Cluster Information | Plasmid Cluster ID | C2523 |
Reference Plasmid | 1111525849772552_bin.4__k141_350155 | |
Reference Plasmid Size | 418528 | |
Reference Plasmid GC Content | 0.55 | |
Reference Plasmid Mobility Type | non-mobilizable |
mutid | gname | pos | count | tissue | frequnt | biotype | consequence | impact | nucchange | aachange |
---|---|---|---|---|---|---|---|---|---|---|
M0043922 | HKHCGNOH_00116 | 124580 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 45A>G | Pro15Pro |
M0043923 | HKHCGNOH_00116 | 124679 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 144A>G | Leu48Leu |
M0043924 | HKHCGNOH_00116 | 124904 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 369T>A | Thr123Thr |
M0043925 | HKHCGNOH_00116 | 124905 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 370A>G | Thr124Ala |
M0043926 | HKHCGNOH_00116 | 124922 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 387A>C | Pro129Pro |
M0043927 | HKHCGNOH_00116 | 125075 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 540T>C | Ala180Ala |
M0043928 | HKHCGNOH_00116 | 125090 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 555T>C | Ala185Ala |
M0043929 | HKHCGNOH_00116 | 125465 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 930G>A | Leu310Leu |
M0043930 | HKHCGNOH_00116 | 125469 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 934G>A | Ala312Thr |
M0043931 | HKHCGNOH_00116 | 125495 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 960T>G | Ala320Ala |
M0043932 | HKHCGNOH_00116 | 125564 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1029A>G | Gln343Gln |
M0043933 | HKHCGNOH_00116 | 125933 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1398A>G | Pro466Pro |
M0043934 | HKHCGNOH_00117 | 126468 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 206A>C | Asn69Thr |
M0043935 | HKHCGNOH_00117 | 126727 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 465G>A | Leu155Leu |
M0043936 | HKHCGNOH_00117 | 126736 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 474G>A | Arg158Arg |
M0043937 | HKHCGNOH_00117 | 126793 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 531A>C | Val177Val |
M0043938 | HKHCGNOH_00117 | 126799 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 537T>C | Asp179Asp |
M0043939 | HKHCGNOH_00117 | 126883 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 621C>T | Asn207Asn |
M0043940 | HKHCGNOH_00118 | 127258 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 180T>C | Gly60Gly |
M0043941 | HKHCGNOH_00118 | 127261 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 183C>T | Asn61Asn |
M0043942 | HKHCGNOH_00118 | 127270 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 192T>C | Val64Val |
M0043943 | HKHCGNOH_00118 | 127306 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 228A>G | Ala76Ala |
M0043944 | HKHCGNOH_00118 | 127333 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 255G>A | Leu85Leu |
M0043945 | HKHCGNOH_00118 | 127456 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 378A>G | Lys126Lys |
M0043946 | HKHCGNOH_00118 | 128005 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 927T>C | Asp309Asp |
M0043947 | HKHCGNOH_00119 | 128125 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 54G>A | Gln18Gln |
M0043948 | HKHCGNOH_00119 | 128185 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 114C>T | Val38Val |
M0043949 | HKHCGNOH_00119 | 128197 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 126T>C | Cys42Cys |
M0043950 | HKHCGNOH_00119 | 128332 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 261C>T | Gly87Gly |
M0043951 | HKHCGNOH_00119 | 128379 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 308T>C | Val103Ala |
M0043952 | HKHCGNOH_00119 | 128383 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 312T>G | Leu104Leu |
M0043953 | HKHCGNOH_00119 | 128384 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 313A>G | Thr105Ala |
M0043954 | HKHCGNOH_00119 | 128644 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 573C>T | His191His |
M0043955 | HKHCGNOH_00119 | 128647 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 576T>G | Ala192Ala |
M0043956 | HKHCGNOH_00119 | 128723 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 652A>G | Thr218Ala |
M0043957 | HKHCGNOH_00119 | 128725 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 654C>A | Thr218Thr |
M0043958 | HKHCGNOH_00119 | 128776 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 705A>C | Gly235Gly |
M0043959 | HKHCGNOH_00119 | 128777 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 706T>G | Ser236Ala |
M0043960 | HKHCGNOH_00119 | 128782 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 711C>G | Leu237Leu |
M0043961 | HKHCGNOH_00119 | 128797 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 726A>G | Gly242Gly |
M0043962 | HKHCGNOH_00119 | 128820 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 749G>A | Ser250Asn |
M0043963 | HKHCGNOH_00120 | 128937 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 75A>T | Gly25Gly |
M0043964 | HKHCGNOH_00120 | 129003 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 141A>G | Ser47Ser |
M0043965 | HKHCGNOH_00120 | 129113 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 251C>A | Ala84Asp |
M0043966 | HKHCGNOH_00120 | 129240 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 378G>A | Glu126Glu |
M0043967 | HKHCGNOH_00120 | 129309 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 447C>T | Asn149Asn |
M0043968 | HKHCGNOH_00120 | 129327 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 465C>T | Ile155Ile |
M0043969 | HKHCGNOH_00121 | 129428 | 5 | Skin | 0.10 | protein_coding | upstream_gene_variant | MODIFIER | -1A>G | None |
M0043970 | HKHCGNOH_00121 | 129638 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 210C>T | Arg70Arg |
M0043971 | HKHCGNOH_00121 | 129647 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 219A>G | Gln73Gln |
M0043972 | HKHCGNOH_00121 | 129650 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 222T>C | Arg74Arg |
M0043973 | HKHCGNOH_00121 | 129704 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 276A>T | Ile92Ile |
M0043974 | HKHCGNOH_00121 | 129789 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 361T>C | Leu121Leu |
M0043975 | HKHCGNOH_00121 | 129800 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 372T>C | Asn124Asn |
M0043976 | HKHCGNOH_00121 | 129815 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 387T>C | Ser129Ser |
M0043977 | HKHCGNOH_00121 | 129818 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 390C>T | Tyr130Tyr |
M0043978 | HKHCGNOH_00121 | 129821 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 393T>C | Thr131Thr |
M0043979 | HKHCGNOH_00121 | 130425 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 997T>C | Leu333Leu |
M0043980 | HKHCGNOH_00121 | 130520 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1092T>C | Ala364Ala |
M0043981 | HKHCGNOH_00121 | 131123 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 1695G>A | Leu565Leu |
M0043982 | HKHCGNOH_00121 | 131171 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1743C>T | Gly581Gly |
M0043983 | HKHCGNOH_00121 | 131282 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1854T>G | Gly618Gly |
M0043984 | HKHCGNOH_00122 | 131629 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 333T>C | Arg111Arg |
M0043985 | HKHCGNOH_00122 | 131653 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 357T>C | Asp119Asp |
M0043986 | HKHCGNOH_00122 | 131758 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 462C>T | Asp154Asp |
M0043987 | HKHCGNOH_00122 | 132133 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 837T>C | Asn279Asn |
M0043988 | HKHCGNOH_00122 | 132202 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 906G>A | Val302Val |
M0043989 | HKHCGNOH_00122 | 132337 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1041T>C | Ala347Ala |
M0043990 | HKHCGNOH_00123 | 132521 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 132A>G | Gln44Gln |
M0043991 | HKHCGNOH_00123 | 132846 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 457T>C | Leu153Leu |
M0043992 | HKHCGNOH_00123 | 132878 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 489T>G | Ala163Ala |
M0043993 | HKHCGNOH_00123 | 132880 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 491T>C | Val164Ala |
M0043994 | HKHCGNOH_00123 | 132888 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 499A>G | Thr167Ala |
M0043995 | HKHCGNOH_00123 | 132926 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 537A>G | Thr179Thr |
M0043996 | HKHCGNOH_00123 | 133061 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 672T>C | Thr224Thr |
M0043997 | HKHCGNOH_00123 | 133067 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 678A>G | Glu226Glu |
M0043998 | HKHCGNOH_00123 | 133070 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 681C>T | Ala227Ala |
M0043999 | HKHCGNOH_00123 | 133079 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 690C>T | Gly230Gly |
M0044000 | HKHCGNOH_00123 | 133097 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 708A>G | Glu236Glu |
M0044001 | HKHCGNOH_00123 | 133454 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 1065A>G | Val355Val |
M0044002 | HKHCGNOH_00123 | 133505 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 1116T>C | Thr372Thr |
M0044003 | HKHCGNOH_00123 | 133553 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1164G>A | Ala388Ala |
M0044004 | HKHCGNOH_00123 | 133556 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 1167T>C | Val389Val |
M0044005 | HKHCGNOH_00123 | 133619 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1230C>A | Val410Val |
M0044006 | HKHCGNOH_00123 | 133742 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1353G>A | Glu451Glu |
M0044007 | HKHCGNOH_00123 | 133766 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 1377T>C | Ala459Ala |
M0044008 | HKHCGNOH_00123 | 133911 | 6 | Skin | 0.12 | protein_coding | missense_variant | MODERATE | 1522G>C | Glu508Gln |
M0044009 | HKHCGNOH_00123 | 133968 | 6 | Skin | 0.12 | protein_coding | missense_variant | MODERATE | 1579T>G | Cys527Gly |
M0044010 | HKHCGNOH_00123 | 134009 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1620A>G | Val540Val |
M0044011 | HKHCGNOH_00123 | 134471 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 2082T>C | Ile694Ile |
M0044012 | HKHCGNOH_00123 | 134585 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 2196A>T | Ala732Ala |
M0044013 | HKHCGNOH_00123 | 134795 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 2406T>C | Cys802Cys |
M0044014 | HKHCGNOH_00124 | 135419 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 393G>A | Glu131Glu |
M0044015 | HKHCGNOH_00124 | 135455 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 429T>C | Arg143Arg |
M0044016 | HKHCGNOH_00124 | 135515 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 489C>T | His163His |
M0044017 | HKHCGNOH_00124 | 135572 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 546C>T | Leu182Leu |
M0044018 | HKHCGNOH_00124 | 135626 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 600T>C | Thr200Thr |
M0044019 | HKHCGNOH_00124 | 135743 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 717C>T | Gly239Gly |
M0044020 | HKHCGNOH_00124 | 135845 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 819C>G | Val273Val |
M0044021 | HKHCGNOH_00124 | 136214 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1188C>G | Ala396Ala |
M0044022 | HKHCGNOH_00124 | 136251 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 1225A>C | Arg409Arg |
M0044023 | HKHCGNOH_00124 | 136286 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1260A>T | Pro420Pro |
M0044024 | HKHCGNOH_00124 | 136358 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 1332A>G | Leu444Leu |
M0044025 | HKHCGNOH_00124 | 136394 | 6 | Skin | 0.12 | protein_coding | missense_variant | MODERATE | 1368T>G | Asp456Glu |
M0044026 | HKHCGNOH_00124 | 136430 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 1404A>G | Ser468Ser |
M0044027 | HKHCGNOH_00124 | 136431 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 1405A>G | Ser469Gly |
M0044028 | HKHCGNOH_00125 | 136475 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -55C>A | None |
M0044029 | HKHCGNOH_00125 | 136487 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -43C>G | None |
M0044030 | HKHCGNOH_00125 | 136500 | 5 | Skin | 0.10 | protein_coding | upstream_gene_variant | MODIFIER | -30A>G | None |
M0044031 | HKHCGNOH_00125 | 136510 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -20T>C | None |
M0044032 | HKHCGNOH_00125 | 136512 | 5 | Skin | 0.10 | protein_coding | upstream_gene_variant | MODIFIER | -18G>A | None |
M0044033 | HKHCGNOH_00125 | 136566 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 37C>T | Leu13Leu |
M0044034 | HKHCGNOH_00125 | 136568 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 39G>T | Leu13Leu |
M0044035 | HKHCGNOH_00125 | 136584 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 55A>G | Ser19Gly |
M0044036 | HKHCGNOH_00125 | 136628 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 99G>A | Arg33Arg |
M0044037 | HKHCGNOH_00125 | 136847 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 318A>C | Leu106Leu |
M0044038 | HKHCGNOH_00125 | 136850 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 321T>G | Asp107Glu |
M0044039 | HKHCGNOH_00125 | 136915 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 386A>G | Lys129Arg |
M0044040 | HKHCGNOH_00126 | 136920 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 5G>A | Ser2Asn |
M0044041 | HKHCGNOH_00126 | 136922 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 7G>A | Val3Ile |
M0044042 | HKHCGNOH_00126 | 136984 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 69A>G | Leu23Leu |
M0044043 | HKHCGNOH_00126 | 137047 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 132A>G | Val44Val |
M0044044 | HKHCGNOH_00127 | 137291 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -38C>T | None |
M0044045 | HKHCGNOH_00127 | 137415 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 87T>C | Phe29Phe |
M0044046 | HKHCGNOH_00127 | 137603 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 275T>C | Ile92Thr |
M0044047 | HKHCGNOH_00127 | 137703 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 375C>T | Tyr125Tyr |
M0044048 | HKHCGNOH_00127 | 137859 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 531G>T | Val177Val |
M0044049 | HKHCGNOH_00127 | 138111 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 783A>G | Arg261Arg |
M0044050 | HKHCGNOH_00127 | 138144 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 816G>C | Ala272Ala |
M0044051 | HKHCGNOH_00127 | 138171 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 843T>A | Val281Val |
M0044052 | HKHCGNOH_00127 | 138234 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 906T>C | Thr302Thr |
M0044053 | HKHCGNOH_00127 | 138240 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 912T>C | Thr304Thr |
M0044054 | HKHCGNOH_00199 | 207229 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 87A>G | Val29Val |
M0044055 | HKHCGNOH_00199 | 207488 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 346A>G | Thr116Ala |
M0044056 | HKHCGNOH_00199 | 207544 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 402A>G | Ser134Ser |
M0044057 | HKHCGNOH_00202 | 213863 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -2838T>C | None |
M0044058 | HKHCGNOH_00206 | 213903 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 471C>T | Ile157Ile |
M0044059 | HKHCGNOH_00206 | 213944 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 430T>C | Leu144Leu |
M0044060 | HKHCGNOH_00206 | 213957 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 417T>C | Gly139Gly |
M0044061 | HKHCGNOH_00206 | 214119 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 255T>A | Gly85Gly |
M0044062 | HKHCGNOH_00206 | 214137 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 237G>A | Ala79Ala |
M0044063 | HKHCGNOH_00206 | 214143 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 231T>C | Ile77Ile |
M0044064 | HKHCGNOH_00206 | 214230 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 144G>A | Glu48Glu |
M0044065 | HKHCGNOH_00206 | 214356 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 18T>C | Asn6Asn |
M0044066 | HKHCGNOH_00207 | 214982 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 159T>C | Gly53Gly |
M0044067 | HKHCGNOH_00209 | 216175 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 303A>G | Thr101Thr |
M0044068 | HKHCGNOH_00209 | 216298 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 426C>T | Cys142Cys |
M0044069 | HKHCGNOH_00209 | 216496 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 624C>A | Ala208Ala |
M0044070 | HKHCGNOH_00209 | 216577 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 705A>G | Val235Val |
M0044071 | HKHCGNOH_00209 | 216580 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 708A>G | Leu236Leu |
M0044072 | HKHCGNOH_00209 | 216637 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 765G>A | Pro255Pro |
M0044073 | HKHCGNOH_00209 | 216640 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 768G>T | Leu256Leu |
M0044074 | HKHCGNOH_00210 | 216810 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 859T>C | Leu287Leu |
M0044075 | HKHCGNOH_00210 | 216835 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 834A>G | Leu278Leu |
M0044076 | HKHCGNOH_00210 | 216838 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 831C>T | Gly277Gly |
M0044077 | HKHCGNOH_00210 | 216961 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 708T>C | His236His |
M0044078 | HKHCGNOH_00210 | 217051 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 618T>C | Leu206Leu |
M0044079 | HKHCGNOH_00210 | 217396 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 273T>C | Ser91Ser |
M0044080 | HKHCGNOH_00210 | 217408 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 261T>C | Gly87Gly |
M0044081 | HKHCGNOH_00071 | 77924 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 87A>C | Arg29Arg |
M0044082 | HKHCGNOH_00072 | 78152 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 42C>G | Ile14Met |
M0044083 | HKHCGNOH_00072 | 78332 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 222G>A | Leu74Leu |
M0044084 | HKHCGNOH_00072 | 78365 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 255A>T | Ile85Ile |
M0044085 | HKHCGNOH_00073 | 78563 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 9A>G | Ile3Met |
M0044086 | HKHCGNOH_00073 | 78896 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 342C>G | Gly114Gly |
M0044087 | HKHCGNOH_00073 | 78983 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 429T>G | Ala143Ala |
M0044088 | HKHCGNOH_00073 | 78989 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 435T>C | Gly145Gly |
M0044089 | HKHCGNOH_00073 | 79024 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 470A>G | Glu157Gly |
M0044090 | HKHCGNOH_00073 | 79046 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 492T>C | Thr164Thr |
M0044091 | HKHCGNOH_00074 | 79335 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 171T>C | Cys57Cys |
M0044092 | HKHCGNOH_00074 | 79386 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 222T>C | Asp74Asp |
M0044093 | HKHCGNOH_00076 | 81069 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1086C>G | Pro362Pro |
M0044094 | HKHCGNOH_00076 | 81192 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1209C>T | Asp403Asp |
M0044095 | HKHCGNOH_00076 | 81222 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1239T>C | Gly413Gly |
M0044096 | HKHCGNOH_00077 | 82116 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 2091A>C | Gln697His |
M0044097 | HKHCGNOH_00077 | 82413 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1794C>T | Pro598Pro |
M0044098 | HKHCGNOH_00077 | 82458 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1749G>A | Glu583Glu |
M0044099 | HKHCGNOH_00077 | 82469 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 1738A>G | Ile580Val |
M0044100 | HKHCGNOH_00077 | 82506 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 1701T>G | His567Gln |
M0044101 | HKHCGNOH_00077 | 82561 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 1646G>C | Arg549Pro |
M0044102 | HKHCGNOH_00077 | 82987 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 1220T>G | Leu407Arg |
M0044103 | HKHCGNOH_00077 | 83296 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 911C>G | Thr304Ser |
M0044104 | HKHCGNOH_00077 | 83298 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 909T>C | Phe303Phe |
M0044105 | HKHCGNOH_00077 | 83322 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 885C>T | Arg295Arg |
M0044106 | HKHCGNOH_00077 | 83611 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 596T>A | Leu199Gln |
M0044107 | HKHCGNOH_00078 | 84585 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 764A>G | Asn255Ser |
M0044108 | HKHCGNOH_00078 | 84596 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 753A>G | Ser251Ser |
M0044109 | HKHCGNOH_00078 | 84905 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 444T>A | Ala148Ala |
M0044110 | HKHCGNOH_00078 | 85142 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 207T>G | Pro69Pro |
M0044111 | HKHCGNOH_00078 | 85271 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 78T>C | Cys26Cys |
M0044112 | HKHCGNOH_00079 | 85509 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 105A>G | Leu35Leu |
M0044113 | HKHCGNOH_00080 | 86342 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 30A>G | Gln10Gln |
M0044114 | HKHCGNOH_00080 | 86363 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 9A>T | Ile3Ile |
M0044115 | HKHCGNOH_00081 | 86398 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 894G>A | Gly298Gly |
M0044116 | HKHCGNOH_00081 | 86437 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 855G>C | Lys285Asn |
M0044117 | HKHCGNOH_00081 | 86440 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 852C>T | Arg284Arg |
M0044118 | HKHCGNOH_00081 | 86452 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 840A>G | Gln280Gln |
M0044119 | HKHCGNOH_00081 | 86497 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 795G>A | Lys265Lys |
M0044120 | HKHCGNOH_00081 | 86698 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 594A>G | Pro198Pro |
M0044121 | HKHCGNOH_00081 | 86710 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 582G>A | Leu194Leu |
M0044122 | HKHCGNOH_00081 | 86725 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 567T>C | Arg189Arg |
M0044123 | HKHCGNOH_00081 | 86830 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 462A>G | Leu154Leu |
M0044124 | HKHCGNOH_00081 | 86862 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 430G>A | Asp144Asn |
M0044125 | HKHCGNOH_00081 | 86869 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 423C>T | Thr141Thr |
M0044126 | HKHCGNOH_00081 | 86914 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 378T>C | Thr126Thr |
M0044127 | HKHCGNOH_00081 | 86968 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 324C>A | Val108Val |
M0044128 | HKHCGNOH_00081 | 86980 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 312T>C | Cys104Cys |
M0044129 | HKHCGNOH_00081 | 86983 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 309G>C | Gly103Gly |
M0044130 | HKHCGNOH_00081 | 86992 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 300G>A | Leu100Leu |
M0044131 | HKHCGNOH_00081 | 87010 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 282A>T | Thr94Thr |
M0044132 | HKHCGNOH_00082 | 87723 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 853T>C | Leu285Leu |
M0044133 | HKHCGNOH_00082 | 87901 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 675A>G | Pro225Pro |
M0044134 | HKHCGNOH_00082 | 87961 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 615G>A | Gln205Gln |
M0044135 | HKHCGNOH_00082 | 87966 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 610A>G | Thr204Ala |
M0044136 | HKHCGNOH_00082 | 88153 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 423G>C | Val141Val |
M0044137 | HKHCGNOH_00082 | 88248 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 328G>C | Glu110Gln |
M0044138 | HKHCGNOH_00082 | 88250 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 326A>G | His109Arg |
M0044139 | HKHCGNOH_00082 | 88311 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 265A>G | Ile89Val |
M0044140 | HKHCGNOH_00082 | 88318 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 258A>G | Lys86Lys |
M0044141 | HKHCGNOH_00082 | 88423 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 153A>G | Ala51Ala |
M0044142 | HKHCGNOH_00082 | 88445 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 131A>G | Glu44Gly |
M0044143 | HKHCGNOH_00082 | 88504 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 72T>C | Thr24Thr |
M0044144 | HKHCGNOH_00077 | 88635 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4429C>A | None |
M0044145 | HKHCGNOH_00077 | 88709 | 4 | Skin | 0.08 | protein_coding | upstream_gene_variant | MODIFIER | -4503G>T | None |
M0044146 | HKHCGNOH_00077 | 88710 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4504A>T | None |
M0044147 | HKHCGNOH_00077 | 88738 | 4 | Skin | 0.08 | protein_coding | upstream_gene_variant | MODIFIER | -4532C>T | None |
M0044148 | HKHCGNOH_00077 | 88778 | 4 | Skin | 0.08 | protein_coding | upstream_gene_variant | MODIFIER | -4572T>C | None |
M0044149 | HKHCGNOH_00083 | 88858 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 36G>T | Ala12Ala |
M0044150 | HKHCGNOH_00083 | 88888 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 66T>C | Ser22Ser |
M0044151 | HKHCGNOH_00083 | 89060 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 238T>C | Leu80Leu |
M0044152 | HKHCGNOH_00083 | 89541 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 719C>T | Thr240Ile |
M0044153 | HKHCGNOH_00083 | 89638 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 816G>C | Pro272Pro |
M0044154 | HKHCGNOH_00084 | 90066 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 165C>T | Asp55Asp |
M0044155 | HKHCGNOH_00084 | 90099 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 198C>T | Leu66Leu |
M0044156 | HKHCGNOH_00084 | 90370 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 469G>A | Glu157Lys |
M0044157 | HKHCGNOH_00084 | 90399 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 498A>G | Gly166Gly |
M0044158 | HKHCGNOH_00084 | 90600 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 699C>T | Tyr233Tyr |
M0044159 | HKHCGNOH_00085 | 90772 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 134A>G | Asp45Gly |
M0044160 | HKHCGNOH_00085 | 90929 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 291T>C | Arg97Arg |
M0044161 | HKHCGNOH_00085 | 91047 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 409T>C | Leu137Leu |
M0044162 | HKHCGNOH_00085 | 91098 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 460T>C | Leu154Leu |
M0044163 | HKHCGNOH_00085 | 91127 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 489A>G | Leu163Leu |
M0044164 | HKHCGNOH_00085 | 91597 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 959T>C | Val320Ala |
M0044165 | HKHCGNOH_00085 | 91895 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1257C>T | Asn419Asn |
M0044166 | HKHCGNOH_00081 | 92023 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4732C>T | None |
M0044167 | HKHCGNOH_00086 | 92133 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 54C>T | Cys18Cys |
M0044168 | HKHCGNOH_00001 | 163 | 3 | Skin | 0.06 | protein_coding | downstream_gene_variant | MODIFIER | *10C>G | None |
M0044169 | HKHCGNOH_00001 | 329 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 525G>C | Ser175Ser |
M0044170 | HKHCGNOH_00042 | 44698 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 315A>T | Ala105Ala |
M0044171 | HKHCGNOH_00043 | 45121 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 702T>C | Gly234Gly |
M0044172 | HKHCGNOH_00043 | 45712 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 111C>T | Tyr37Tyr |
M0044173 | HKHCGNOH_00044 | 46947 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 201G>T | Gly67Gly |
M0044174 | HKHCGNOH_00044 | 46998 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 150C>T | Leu50Leu |
M0044175 | HKHCGNOH_00044 | 47001 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 147T>C | Ser49Ser |
M0044176 | HKHCGNOH_00044 | 47013 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 135C>G | Ala45Ala |
M0044177 | HKHCGNOH_00041 | 47232 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -2956C>T | None |
M0044178 | HKHCGNOH_00041 | 47234 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -2958C>T | None |
M0044179 | HKHCGNOH_00041 | 47237 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -2961G>A | None |
M0044180 | HKHCGNOH_00046 | 48722 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1554A>G | Val518Val |
M0044181 | HKHCGNOH_00046 | 48791 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1485T>C | Ala495Ala |
M0044182 | HKHCGNOH_00046 | 48842 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1434A>G | Gly478Gly |
M0044183 | HKHCGNOH_00046 | 49364 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 912T>C | Gly304Gly |
M0044184 | HKHCGNOH_00046 | 49451 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 825A>G | Ala275Ala |
M0044185 | HKHCGNOH_00048 | 50824 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 804C>T | Ser268Ser |
M0044186 | HKHCGNOH_00048 | 50844 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 784G>C | Ala262Pro |
M0044187 | HKHCGNOH_00048 | 51586 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 42T>C | Ser14Ser |
M0044188 | HKHCGNOH_00044 | 51673 | 5 | Skin | 0.10 | protein_coding | upstream_gene_variant | MODIFIER | -4526A>G | None |
M0044189 | HKHCGNOH_00049 | 51805 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 66G>T | Ala22Ala |
M0044190 | HKHCGNOH_00049 | 52171 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 432A>C | Thr144Thr |
M0044191 | HKHCGNOH_00049 | 52233 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 494T>C | Val165Ala |
M0044192 | HKHCGNOH_00049 | 52247 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 508T>C | Leu170Leu |
M0044193 | HKHCGNOH_00049 | 52409 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 670T>C | Leu224Leu |
M0044194 | HKHCGNOH_00045 | 53101 | 4 | Skin | 0.08 | protein_coding | upstream_gene_variant | MODIFIER | -4676T>A | None |
M0044195 | HKHCGNOH_00051 | 53222 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 41A>C | Asn14Thr |
M0044196 | HKHCGNOH_00051 | 53562 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 381C>T | His127His |
M0044197 | HKHCGNOH_00051 | 53578 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 397T>G | Phe133Val |
M0044198 | HKHCGNOH_00051 | 53637 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 456T>C | His152His |
M0044199 | HKHCGNOH_00051 | 53916 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 735T>C | Val245Val |
M0044200 | HKHCGNOH_00051 | 53919 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 738G>C | Ala246Ala |
M0044201 | HKHCGNOH_00051 | 53922 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 741T>A | Gly247Gly |
M0044202 | HKHCGNOH_00051 | 54048 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 867C>G | Gly289Gly |
M0044203 | HKHCGNOH_00051 | 54057 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 876C>T | His292His |
M0044204 | HKHCGNOH_00051 | 54069 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 888C>T | Arg296Arg |
M0044205 | HKHCGNOH_00051 | 54081 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 900A>G | Thr300Thr |
M0044206 | HKHCGNOH_00046 | 54090 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -3815C>T | None |
M0044207 | HKHCGNOH_00046 | 54132 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -3857A>G | None |
M0044208 | HKHCGNOH_00046 | 54153 | 5 | Skin | 0.10 | protein_coding | upstream_gene_variant | MODIFIER | -3878G>A | None |
M0044209 | HKHCGNOH_00052 | 54281 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 25A>G | Asn9Asp |
M0044210 | HKHCGNOH_00052 | 54568 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 312T>C | Gly104Gly |
M0044211 | HKHCGNOH_00052 | 54742 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 486G>C | Ala162Ala |
M0044212 | HKHCGNOH_00052 | 54784 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 528T>G | Ala176Ala |
M0044213 | HKHCGNOH_00052 | 55114 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 858C>T | His286His |
M0044214 | HKHCGNOH_00052 | 55164 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 908T>G | Val303Gly |
M0044215 | HKHCGNOH_00046 | 55191 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4916C>A | None |
M0044216 | HKHCGNOH_00053 | 55771 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 519T>C | Ala173Ala |
M0044217 | HKHCGNOH_00053 | 55814 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 562A>G | Thr188Ala |
M0044218 | HKHCGNOH_00053 | 55990 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 738G>A | Lys246Lys |
M0044219 | HKHCGNOH_00053 | 56011 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 759G>T | Gly253Gly |
M0044220 | HKHCGNOH_00048 | 56262 | 5 | Skin | 0.10 | protein_coding | upstream_gene_variant | MODIFIER | -4635T>C | None |
M0044221 | HKHCGNOH_00054 | 56888 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 234T>C | Arg78Arg |
M0044222 | HKHCGNOH_00054 | 57178 | 6 | Skin | 0.12 | protein_coding | missense_variant | MODERATE | 524A>G | Asp175Gly |
M0044223 | HKHCGNOH_00054 | 57245 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 591G>C | Gly197Gly |
M0044224 | HKHCGNOH_00054 | 57266 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 612C>T | Ser204Ser |
M0044225 | HKHCGNOH_00054 | 57299 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 645G>A | Leu215Leu |
M0044226 | HKHCGNOH_00054 | 57305 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 651T>C | Arg217Arg |
M0044227 | HKHCGNOH_00054 | 57308 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 654C>G | Thr218Thr |
M0044228 | HKHCGNOH_00054 | 57311 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 657T>G | Val219Val |
M0044229 | HKHCGNOH_00054 | 57320 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 666C>T | Phe222Phe |
M0044230 | HKHCGNOH_00054 | 57323 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 669C>T | Cys223Cys |
M0044231 | HKHCGNOH_00054 | 57324 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 670G>A | Ala224Thr |
M0044232 | HKHCGNOH_00054 | 57329 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 675A>G | Leu225Leu |
M0044233 | HKHCGNOH_00054 | 57330 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 676T>C | Leu226Leu |
M0044234 | HKHCGNOH_00054 | 57335 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 681C>G | Pro227Pro |
M0044235 | HKHCGNOH_00054 | 57407 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 753C>A | Ser251Ser |
M0044236 | HKHCGNOH_00054 | 57455 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 801T>A | Ala267Ala |
M0044237 | HKHCGNOH_00054 | 57566 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 912C>T | Leu304Leu |
M0044238 | HKHCGNOH_00058 | 57606 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -3041G>T | None |
M0044239 | HKHCGNOH_00055 | 57659 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 114T>C | Ala38Ala |
M0044240 | HKHCGNOH_00056 | 57886 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 897T>C | Ser299Ser |
M0044241 | HKHCGNOH_00056 | 58162 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 621T>C | Ala207Ala |
M0044242 | HKHCGNOH_00056 | 58174 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 609A>G | Leu203Leu |
M0044243 | HKHCGNOH_00056 | 58176 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 607T>C | Leu203Leu |
M0044244 | HKHCGNOH_00056 | 58264 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 519A>G | Leu173Leu |
M0044245 | HKHCGNOH_00056 | 58266 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 517T>C | Leu173Leu |
M0044246 | HKHCGNOH_00056 | 58267 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 516A>G | Ala172Ala |
M0044247 | HKHCGNOH_00056 | 58285 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 498A>G | Gly166Gly |
M0044248 | HKHCGNOH_00056 | 58290 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 493A>G | Ile165Val |
M0044249 | HKHCGNOH_00056 | 58330 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 453G>A | Ser151Ser |
M0044250 | HKHCGNOH_00056 | 58410 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 373C>T | Leu125Leu |
M0044251 | HKHCGNOH_00056 | 58474 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 309T>C | Phe103Phe |
M0044252 | HKHCGNOH_00056 | 58639 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 144C>T | Asn48Asn |
M0044253 | HKHCGNOH_00056 | 58651 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 132T>C | Asp44Asp |
M0044254 | HKHCGNOH_00056 | 58660 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 123T>C | Thr41Thr |
M0044255 | HKHCGNOH_00057 | 58823 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1371T>C | Ser457Ser |
M0044256 | HKHCGNOH_00057 | 58862 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1332G>A | Glu444Glu |
M0044257 | HKHCGNOH_00057 | 58943 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1251T>C | Val417Val |
M0044258 | HKHCGNOH_00057 | 59069 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1125T>A | Ala375Ala |
M0044259 | HKHCGNOH_00057 | 59132 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1062C>G | Thr354Thr |
M0044260 | HKHCGNOH_00057 | 59138 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1056C>T | Leu352Leu |
M0044261 | HKHCGNOH_00057 | 59228 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 966T>C | Ile322Ile |
M0044262 | HKHCGNOH_00057 | 59315 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 879T>C | Gly293Gly |
M0044263 | HKHCGNOH_00057 | 59396 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 798A>G | Glu266Glu |
M0044264 | HKHCGNOH_00057 | 59555 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 639A>G | Thr213Thr |
M0044265 | HKHCGNOH_00057 | 59558 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 636T>C | Asp212Asp |
M0044266 | HKHCGNOH_00057 | 59585 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 609A>G | Ala203Ala |
M0044267 | HKHCGNOH_00057 | 59630 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 564T>C | Ser188Ser |
M0044268 | HKHCGNOH_00057 | 60116 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 78C>T | Ala26Ala |
M0044269 | HKHCGNOH_00058 | 60877 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 231A>G | Lys77Lys |
M0044270 | HKHCGNOH_00058 | 60895 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 249T>C | Ala83Ala |
M0044271 | HKHCGNOH_00058 | 60949 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 303A>G | Leu101Leu |
M0044272 | HKHCGNOH_00058 | 61216 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 570A>G | Ala190Ala |
M0044273 | HKHCGNOH_00058 | 61303 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 657T>C | Ser219Ser |
M0044274 | HKHCGNOH_00058 | 61327 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 681T>C | Asn227Asn |
M0044275 | HKHCGNOH_00058 | 61405 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 759G>A | Glu253Glu |
M0044276 | HKHCGNOH_00058 | 61559 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 913A>G | Asn305Asp |
M0044277 | HKHCGNOH_00058 | 61688 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1042T>C | Leu348Leu |
M0044278 | HKHCGNOH_00058 | 61784 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1138A>C | Arg380Arg |
M0044279 | HKHCGNOH_00058 | 62182 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1536T>C | Arg512Arg |
M0044280 | HKHCGNOH_00058 | 62284 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1638T>C | Asp546Asp |
M0044281 | HKHCGNOH_00058 | 62547 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 1901T>C | Phe634Ser |
M0044282 | HKHCGNOH_00058 | 62785 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2139C>T | Tyr713Tyr |
M0044283 | HKHCGNOH_00058 | 62791 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2145T>C | Ile715Ile |
M0044284 | HKHCGNOH_00058 | 62806 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2160T>G | Val720Val |
M0044285 | HKHCGNOH_00058 | 62869 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2223C>A | Gly741Gly |
M0044286 | HKHCGNOH_00058 | 62939 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2293T>C | Leu765Leu |
M0044287 | HKHCGNOH_00059 | 63651 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 543T>C | Pro181Pro |
M0044288 | HKHCGNOH_00059 | 63753 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 645A>G | Pro215Pro |
M0044289 | HKHCGNOH_00064 | 70351 | 6 | Skin | 0.12 | protein_coding | missense_variant | MODERATE | 1482G>C | Glu494Asp |
M0044290 | HKHCGNOH_00064 | 70454 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 1585T>C | Leu529Leu |
M0044291 | HKHCGNOH_00064 | 70489 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1620A>C | Ala540Ala |
M0044292 | HKHCGNOH_00064 | 70957 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2088G>T | Val696Val |
M0044293 | HKHCGNOH_00064 | 70996 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2127T>C | Tyr709Tyr |
M0044294 | HKHCGNOH_00064 | 71056 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2187G>C | Ala729Ala |
M0044295 | HKHCGNOH_00064 | 71389 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2520T>C | Ile840Ile |
M0044296 | HKHCGNOH_00064 | 71431 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2562G>T | Ala854Ala |
M0044297 | HKHCGNOH_00064 | 71599 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2730T>C | Phe910Phe |
M0044298 | HKHCGNOH_00068 | 73634 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 96T>C | Val32Val |
M0044299 | HKHCGNOH_00068 | 73658 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 120T>G | His40Gln |
M0044300 | HKHCGNOH_00068 | 73718 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 180T>C | Arg60Arg |
M0044301 | HKHCGNOH_00068 | 73805 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 267A>G | Glu89Glu |
M0044302 | HKHCGNOH_00066 | 74571 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -1794T>A | None |
M0044303 | HKHCGNOH_00066 | 74616 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -1839C>T | None |
M0044304 | HKHCGNOH_00069 | 75048 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1767A>G | Val589Val |
M0044305 | HKHCGNOH_00069 | 75405 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1410G>T | Val470Val |
M0044306 | HKHCGNOH_00069 | 75582 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1233A>G | Leu411Leu |
M0044307 | HKHCGNOH_00069 | 75588 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1227C>T | Phe409Phe |
M0044308 | HKHCGNOH_00069 | 75690 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1125G>A | Val375Val |
M0044309 | HKHCGNOH_00069 | 75780 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1035T>G | Ala345Ala |
M0044310 | HKHCGNOH_00069 | 75789 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1026T>C | Arg342Arg |
M0044311 | HKHCGNOH_00069 | 75804 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1011G>A | Glu337Glu |
M0044312 | HKHCGNOH_00069 | 76317 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 498A>G | Ala166Ala |
M0044313 | HKHCGNOH_00069 | 76572 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 243A>G | Leu81Leu |
M0044314 | HKHCGNOH_00069 | 76767 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 48T>C | Cys16Cys |
M0044315 | HKHCGNOH_00066 | 76938 | 4 | Skin | 0.08 | protein_coding | upstream_gene_variant | MODIFIER | -4161C>A | None |
M0044316 | HKHCGNOH_00076 | 80157 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 174T>C | Asn58Asn |
M0044317 | HKHCGNOH_00076 | 80226 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 243A>G | Val81Val |
M0044318 | HKHCGNOH_00076 | 80421 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 438A>C | Arg146Arg |
M0044319 | HKHCGNOH_00076 | 81522 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1539T>C | Tyr513Tyr |
M0044320 | HKHCGNOH_00076 | 81627 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1644C>G | Gly548Gly |
M0044321 | HKHCGNOH_00076 | 81807 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1824T>C | Arg608Arg |
M0044322 | HKHCGNOH_00077 | 82005 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2202A>G | Leu734Leu |
M0044323 | HKHCGNOH_00077 | 82215 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1992A>G | Gln664Gln |
M0044324 | HKHCGNOH_00077 | 82238 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 1969A>G | Asn657Asp |
M0044325 | HKHCGNOH_00077 | 82359 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1848G>A | Ala616Ala |
M0044326 | HKHCGNOH_00077 | 82362 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1845C>G | Gly615Gly |
M0044327 | HKHCGNOH_00077 | 82365 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1842A>G | Glu614Glu |
M0044328 | HKHCGNOH_00077 | 83379 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 828A>G | Leu276Leu |
M0044329 | HKHCGNOH_00077 | 83483 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 724C>A | Gln242Lys |
M0044330 | HKHCGNOH_00077 | 83565 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 642A>G | Gly214Gly |
M0044331 | HKHCGNOH_00077 | 83709 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 498T>G | Ser166Ser |
M0044332 | HKHCGNOH_00078 | 84227 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1122C>T | Ile374Ile |
M0044333 | HKHCGNOH_00080 | 85913 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 459T>C | Ile153Ile |
M0044334 | HKHCGNOH_00080 | 85972 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 400A>C | Arg134Arg |
M0044335 | HKHCGNOH_00081 | 86770 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 522C>G | Arg174Arg |
M0044336 | HKHCGNOH_00081 | 86772 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 520C>A | Arg174Ser |
M0044337 | HKHCGNOH_00081 | 87067 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 225G>T | Val75Val |
M0044338 | HKHCGNOH_00082 | 88129 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 447C>T | Asn149Asn |
M0044339 | HKHCGNOH_00083 | 89680 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 858A>G | Pro286Pro |
M0044340 | HKHCGNOH_00084 | 90105 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 204A>C | Arg68Arg |
M0044341 | HKHCGNOH_00086 | 92331 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 252A>G | Leu84Leu |
M0044342 | HKHCGNOH_00086 | 92344 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 265T>G | Phe89Val |
M0044343 | HKHCGNOH_00086 | 92367 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 288G>A | Pro96Pro |
M0044344 | HKHCGNOH_00086 | 92637 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 558T>G | Ala186Ala |
M0044345 | HKHCGNOH_00086 | 93128 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 1049T>G | Leu350Trp |
M0044346 | HKHCGNOH_00086 | 93166 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 1087A>T | Ile363Phe |
M0044347 | HKHCGNOH_00171 | 179958 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 423A>C | Ala141Ala |
M0044348 | HKHCGNOH_00171 | 179961 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 420C>A | Pro140Pro |
M0044349 | HKHCGNOH_00171 | 179966 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 415C>T | Leu139Leu |
M0044350 | HKHCGNOH_00171 | 179969 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 412A>G | Asn138Asp |
M0044351 | HKHCGNOH_00171 | 179971 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 410A>T | Glu137Val |
M0044352 | HKHCGNOH_00171 | 179976 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 405G>T | Gly135Gly |
M0044353 | HKHCGNOH_00171 | 179979 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 402A>C | Gly134Gly |
M0044354 | HKHCGNOH_00171 | 179982 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 399T>G | Ser133Arg |
M0044355 | HKHCGNOH_00171 | 179983 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 398G>C | Ser133Thr |
M0044356 | HKHCGNOH_00171 | 179985 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 396G>A | Val132Val |
M0044357 | HKHCGNOH_00171 | 179994 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 387T>C | Ala129Ala |
M0044358 | HKHCGNOH_00171 | 180010 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 371A>G | Lys124Arg |
M0044359 | HKHCGNOH_00171 | 180135 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 246A>G | Ala82Ala |
M0044360 | HKHCGNOH_00171 | 180174 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 207A>G | Lys69Lys |
M0044361 | HKHCGNOH_00171 | 180176 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 205A>C | Lys69Gln |
M0044362 | HKHCGNOH_00171 | 180240 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 141A>G | Leu47Leu |
M0044363 | HKHCGNOH_00171 | 180264 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 117C>T | Pro39Pro |
M0044364 | HKHCGNOH_00171 | 180290 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 91A>G | Thr31Ala |
M0044365 | HKHCGNOH_00172 | 180551 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 2549G>A | Arg850Lys |
M0044366 | HKHCGNOH_00172 | 180628 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2472T>C | Ser824Ser |
M0044367 | HKHCGNOH_00172 | 180733 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2367C>T | Arg789Arg |
M0044368 | HKHCGNOH_00172 | 180894 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2206T>C | Leu736Leu |
M0044369 | HKHCGNOH_00172 | 181054 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 2046A>G | Ala682Ala |
M0044370 | HKHCGNOH_00172 | 181141 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1959T>C | Asn653Asn |
M0044371 | HKHCGNOH_00172 | 181255 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1845T>C | His615His |
M0044372 | HKHCGNOH_00172 | 181332 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 1768G>T | Ala590Ser |
M0044373 | HKHCGNOH_00172 | 181363 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1737C>G | Leu579Leu |
M0044374 | HKHCGNOH_00172 | 181402 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1698A>T | Gly566Gly |
M0044375 | HKHCGNOH_00172 | 181516 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1584C>T | Tyr528Tyr |
M0044376 | HKHCGNOH_00172 | 181564 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1536A>G | Pro512Pro |
M0044377 | HKHCGNOH_00172 | 181657 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1443G>A | Val481Val |
M0044378 | HKHCGNOH_00172 | 181666 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1434T>C | Ser478Ser |
M0044379 | HKHCGNOH_00172 | 181671 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1429A>C | Arg477Arg |
M0044380 | HKHCGNOH_00172 | 181690 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1410C>T | Asp470Asp |
M0044381 | HKHCGNOH_00172 | 181696 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1404C>G | Gly468Gly |
M0044382 | HKHCGNOH_00172 | 181699 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1401A>C | Thr467Thr |
M0044383 | HKHCGNOH_00172 | 181711 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1389T>C | Asp463Asp |
M0044384 | HKHCGNOH_00172 | 181864 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1236T>A | Gly412Gly |
M0044385 | HKHCGNOH_00172 | 181879 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1221T>C | Val407Val |
M0044386 | HKHCGNOH_00172 | 181893 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 1207C>G | Leu403Val |
M0044387 | HKHCGNOH_00172 | 181939 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1161A>G | Thr387Thr |
M0044388 | HKHCGNOH_00033 | 33912 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 225G>C | Ala75Ala |
M0044389 | HKHCGNOH_00034 | 34405 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 731T>A | Val244Glu |
M0044390 | HKHCGNOH_00034 | 34463 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 673T>C | Leu225Leu |
M0044391 | HKHCGNOH_00034 | 34537 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 599A>C | Gln200Pro |
M0044392 | HKHCGNOH_00034 | 34878 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 258A>G | Leu86Leu |
M0044393 | HKHCGNOH_00034 | 34949 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 187T>C | Tyr63His |
M0044394 | HKHCGNOH_00034 | 35043 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 93T>C | His31His |
M0044395 | HKHCGNOH_00034 | 35103 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 33T>C | Arg11Arg |
M0044396 | HKHCGNOH_00035 | 35152 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 1582T>C | Ser528Pro |
M0044397 | HKHCGNOH_00035 | 35527 | 6 | Skin | 0.12 | protein_coding | missense_variant | MODERATE | 1207T>G | Ser403Ala |
M0044398 | HKHCGNOH_00035 | 35678 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1056C>G | Arg352Arg |
M0044399 | HKHCGNOH_00035 | 35978 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 756A>G | Gln252Gln |
M0044400 | HKHCGNOH_00035 | 36220 | 6 | Skin | 0.12 | protein_coding | missense_variant | MODERATE | 514G>C | Ala172Pro |
M0044401 | HKHCGNOH_00035 | 36272 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 462A>C | Leu154Leu |
M0044402 | HKHCGNOH_00017 | 19274 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 273T>G | Leu91Leu |
M0044403 | HKHCGNOH_00018 | 19967 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 330C>G | Leu110Leu |
M0044404 | HKHCGNOH_00018 | 20108 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 471A>C | Ser157Ser |
M0044405 | HKHCGNOH_00018 | 20129 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 492T>C | Val164Val |
M0044406 | HKHCGNOH_00018 | 20228 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 591C>G | Ala197Ala |
M0044407 | HKHCGNOH_00018 | 20297 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 660T>C | Leu220Leu |
M0044408 | HKHCGNOH_00018 | 20753 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1116T>G | Pro372Pro |
M0044409 | HKHCGNOH_00018 | 21368 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1731G>A | Lys577Lys |
M0044410 | HKHCGNOH_00018 | 21463 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 1826A>G | Asn609Ser |
M0044411 | HKHCGNOH_00018 | 21593 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1956C>G | Pro652Pro |
M0044412 | HKHCGNOH_00018 | 21614 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1977G>T | Val659Val |
M0044413 | HKHCGNOH_00018 | 21623 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1986A>G | Leu662Leu |
M0044414 | HKHCGNOH_00018 | 21626 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1989C>T | Tyr663Tyr |
M0044415 | HKHCGNOH_00018 | 21635 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1998C>T | Asp666Asp |
M0044416 | HKHCGNOH_00018 | 21645 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2008T>C | Leu670Leu |
M0044417 | HKHCGNOH_00018 | 21647 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2010A>G | Leu670Leu |
M0044418 | HKHCGNOH_00018 | 21689 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2052T>C | Arg684Arg |
M0044419 | HKHCGNOH_00018 | 21695 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 2058T>C | Thr686Thr |
M0044420 | HKHCGNOH_00018 | 21722 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2085C>T | His695His |
M0044421 | HKHCGNOH_00018 | 21731 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2094C>T | Leu698Leu |
M0044422 | HKHCGNOH_00018 | 21737 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2100G>A | Ala700Ala |
M0044423 | HKHCGNOH_00018 | 21870 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 2233T>C | Leu745Leu |
M0044424 | HKHCGNOH_00018 | 21911 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 2274T>C | Val758Val |
M0044425 | HKHCGNOH_00018 | 21941 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2304C>T | Gly768Gly |
M0044426 | HKHCGNOH_00018 | 22026 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 2389T>C | Leu797Leu |
M0044427 | HKHCGNOH_00019 | 22144 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 84G>C | Ala28Ala |
M0044428 | HKHCGNOH_00019 | 22180 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 120G>A | Val40Val |
M0044429 | HKHCGNOH_00019 | 22271 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 211A>G | Asn71Asp |
M0044430 | HKHCGNOH_00019 | 22276 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 216T>C | Leu72Leu |
M0044431 | HKHCGNOH_00019 | 22303 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 243T>C | Arg81Arg |
M0044432 | HKHCGNOH_00019 | 22372 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 312G>A | Glu104Glu |
M0044433 | HKHCGNOH_00019 | 22933 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 873G>A | Glu291Glu |
M0044434 | HKHCGNOH_00020 | 23234 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 297T>C | Asn99Asn |
M0044435 | HKHCGNOH_00021 | 23682 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 288C>G | Val96Val |
M0044436 | HKHCGNOH_00021 | 23712 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 258A>C | Val86Val |
M0044437 | HKHCGNOH_00021 | 23931 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 39A>G | Ala13Ala |
M0044438 | HKHCGNOH_00022 | 23975 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 180G>A | Val60Val |
M0044439 | HKHCGNOH_00022 | 24009 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 146C>A | Ala49Glu |
M0044440 | HKHCGNOH_00022 | 24010 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 145G>A | Ala49Thr |
M0044441 | HKHCGNOH_00022 | 24123 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 32T>C | Ile11Thr |
M0044442 | HKHCGNOH_00022 | 24129 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 26A>G | Lys9Arg |
M0044443 | HKHCGNOH_00021 | 24340 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -371G>T | None |
M0044444 | HKHCGNOH_00023 | 24348 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 813G>A | Lys271Lys |
M0044445 | HKHCGNOH_00023 | 24840 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 321A>G | Glu107Glu |
M0044446 | HKHCGNOH_00021 | 25670 | 4 | Skin | 0.08 | protein_coding | upstream_gene_variant | MODIFIER | -1701C>T | None |
M0044447 | HKHCGNOH_00027 | 27364 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 609T>C | Arg203Arg |
M0044448 | HKHCGNOH_00027 | 27439 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 684T>C | Cys228Cys |
M0044449 | HKHCGNOH_00027 | 27562 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 807T>C | Thr269Thr |
M0044450 | HKHCGNOH_00027 | 27568 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 813T>C | Gly271Gly |
M0044451 | HKHCGNOH_00027 | 27607 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 852A>T | Pro284Pro |
M0044452 | HKHCGNOH_00027 | 27685 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 930C>G | Ser310Ser |
M0044453 | HKHCGNOH_00027 | 27789 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 1034A>C | Asp345Ala |
M0044454 | HKHCGNOH_00028 | 28024 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 42A>G | Thr14Thr |
M0044455 | HKHCGNOH_00028 | 28081 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 99C>T | Ile33Ile |
M0044456 | HKHCGNOH_00028 | 28339 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 357C>G | Val119Val |
M0044457 | HKHCGNOH_00028 | 28357 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 375A>C | Pro125Pro |
M0044458 | HKHCGNOH_00028 | 28546 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 564A>G | Arg188Arg |
M0044459 | HKHCGNOH_00028 | 28705 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 723A>G | Ala241Ala |
M0044460 | HKHCGNOH_00028 | 28717 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 735T>C | Gly245Gly |
M0044461 | HKHCGNOH_00028 | 28723 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 741A>C | Ile247Ile |
M0044462 | HKHCGNOH_00029 | 28948 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 42A>C | Arg14Arg |
M0044463 | HKHCGNOH_00029 | 29057 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 151T>A | Phe51Ile |
M0044464 | HKHCGNOH_00029 | 29158 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 252T>C | Asp84Asp |
M0044465 | HKHCGNOH_00029 | 29338 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 432A>G | Ala144Ala |
M0044466 | HKHCGNOH_00029 | 29368 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 462T>C | Phe154Phe |
M0044467 | HKHCGNOH_00029 | 29524 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 618T>G | Val206Val |
M0044468 | HKHCGNOH_00029 | 29527 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 621C>G | Thr207Thr |
M0044469 | HKHCGNOH_00029 | 29530 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 624C>G | Leu208Leu |
M0044470 | HKHCGNOH_00029 | 29542 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 636G>A | Glu212Glu |
M0044471 | HKHCGNOH_00029 | 29551 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 645T>C | Arg215Arg |
M0044472 | HKHCGNOH_00029 | 29572 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 666A>G | Val222Val |
M0044473 | HKHCGNOH_00029 | 29575 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 669T>C | Ser223Ser |
M0044474 | HKHCGNOH_00029 | 29578 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 672C>T | Phe224Phe |
M0044475 | HKHCGNOH_00029 | 29744 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 838A>C | Met280Leu |
M0044476 | HKHCGNOH_00029 | 29764 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 858G>A | Lys286Lys |
M0044477 | HKHCGNOH_00030 | 30570 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 381A>G | Val127Val |
M0044478 | HKHCGNOH_00030 | 31046 | 6 | Skin | 0.12 | protein_coding | missense_variant | MODERATE | 857G>A | Gly286Glu |
M0044479 | HKHCGNOH_00031 | 31141 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 80C>T | Thr27Met |
M0044480 | HKHCGNOH_00031 | 31199 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 138C>G | Thr46Thr |
M0044481 | HKHCGNOH_00031 | 31272 | 6 | Skin | 0.12 | protein_coding | missense_variant | MODERATE | 211T>C | Cys71Arg |
M0044482 | HKHCGNOH_00031 | 31615 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 554C>A | Ala185Asp |
M0044483 | HKHCGNOH_00031 | 31643 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 582A>G | Glu194Glu |
M0044484 | HKHCGNOH_00031 | 31682 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 621T>G | Ala207Ala |
M0044485 | HKHCGNOH_00031 | 31706 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 645T>A | Ile215Ile |
M0044486 | HKHCGNOH_00031 | 31748 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 687A>G | Glu229Glu |
M0044487 | HKHCGNOH_00031 | 31751 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 690C>G | Val230Val |
M0044488 | HKHCGNOH_00032 | 31895 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 33A>G | Gly11Gly |
M0044489 | HKHCGNOH_00032 | 31934 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 72T>G | Gly24Gly |
M0044490 | HKHCGNOH_00032 | 32069 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 207G>A | Ser69Ser |
M0044491 | HKHCGNOH_00032 | 32082 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 220T>C | Leu74Leu |
M0044492 | HKHCGNOH_00032 | 32417 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 555C>A | Ser185Ser |
M0044493 | HKHCGNOH_00032 | 32432 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 570C>T | Ser190Ser |
M0044494 | HKHCGNOH_00032 | 32695 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 833C>T | Ala278Val |
M0044495 | HKHCGNOH_00032 | 32730 | 6 | Skin | 0.12 | protein_coding | missense_variant | MODERATE | 868A>C | Met290Leu |
M0044496 | HKHCGNOH_00032 | 32762 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 900T>C | Cys300Cys |
M0044497 | HKHCGNOH_00032 | 32765 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 903G>C | Ala301Ala |
M0044498 | HKHCGNOH_00032 | 32795 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 933G>A | Gln311Gln |
M0044499 | HKHCGNOH_00032 | 32799 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 937C>T | Leu313Leu |
M0044500 | HKHCGNOH_00032 | 32805 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 943C>T | Leu315Leu |
M0044501 | HKHCGNOH_00032 | 32825 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 963A>C | Gly321Gly |
M0044502 | HKHCGNOH_00033 | 33246 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 891C>T | Gly297Gly |
M0044503 | HKHCGNOH_00033 | 33281 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 856T>C | Leu286Leu |
M0044504 | HKHCGNOH_00033 | 33330 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 807G>A | Ala269Ala |
M0044505 | HKHCGNOH_00033 | 33534 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 603A>G | Glu201Glu |
M0044506 | HKHCGNOH_00033 | 33800 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 337G>A | Gly113Ser |
M0044507 | HKHCGNOH_00035 | 35291 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1443G>A | Thr481Thr |
M0044508 | HKHCGNOH_00035 | 36599 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 135A>T | Gly45Gly |
M0044509 | HKHCGNOH_00036 | 36737 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 845A>G | His282Arg |
M0044510 | HKHCGNOH_00036 | 36745 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 837T>C | Asn279Asn |
M0044511 | HKHCGNOH_00036 | 36760 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 822T>C | Ile274Ile |
M0044512 | HKHCGNOH_00036 | 36808 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 774T>C | Thr258Thr |
M0044513 | HKHCGNOH_00036 | 36841 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 741C>T | Arg247Arg |
M0044514 | HKHCGNOH_00036 | 36943 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 639T>C | Leu213Leu |
M0044515 | HKHCGNOH_00036 | 37027 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 555T>C | Tyr185Tyr |
M0044516 | HKHCGNOH_00036 | 37087 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 495T>C | Ala165Ala |
M0044517 | HKHCGNOH_00036 | 37270 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 312T>C | Gly104Gly |
M0044518 | HKHCGNOH_00036 | 37363 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 219A>G | Gln73Gln |
M0044519 | HKHCGNOH_00036 | 37558 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 24A>G | Ser8Ser |
M0044520 | HKHCGNOH_00037 | 37799 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 724C>T | Leu242Leu |
M0044521 | HKHCGNOH_00037 | 37809 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 714T>C | Ala238Ala |
M0044522 | HKHCGNOH_00037 | 37998 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 525C>G | Gly175Gly |
M0044523 | HKHCGNOH_00037 | 38007 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 516T>A | Pro172Pro |
M0044524 | HKHCGNOH_00037 | 38180 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 343A>C | Met115Leu |
M0044525 | HKHCGNOH_00037 | 38207 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 316C>T | Leu106Leu |
M0044526 | HKHCGNOH_00037 | 38262 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 261G>A | Gly87Gly |
M0044527 | HKHCGNOH_00038 | 39075 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1080G>A | Thr360Thr |
M0044528 | HKHCGNOH_00038 | 39242 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 913G>C | Val305Leu |
M0044529 | HKHCGNOH_00038 | 39245 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 910T>C | Leu304Leu |
M0044530 | HKHCGNOH_00038 | 39285 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 870T>G | Pro290Pro |
M0044531 | HKHCGNOH_00038 | 39288 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 867C>T | Arg289Arg |
M0044532 | HKHCGNOH_00038 | 39315 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 840T>C | Arg280Arg |
M0044533 | HKHCGNOH_00038 | 39330 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 825T>C | Tyr275Tyr |
M0044534 | HKHCGNOH_00038 | 39342 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 813T>C | Gly271Gly |
M0044535 | HKHCGNOH_00038 | 39354 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 801G>A | Ala267Ala |
M0044536 | HKHCGNOH_00038 | 39459 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 696T>C | Gly232Gly |
M0044537 | HKHCGNOH_00038 | 39507 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 648G>A | Gln216Gln |
M0044538 | HKHCGNOH_00038 | 39530 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 625T>C | Leu209Leu |
M0044539 | HKHCGNOH_00038 | 39531 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 624C>G | Thr208Thr |
M0044540 | HKHCGNOH_00038 | 39536 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 619C>T | Leu207Leu |
M0044541 | HKHCGNOH_00038 | 39582 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 573T>C | Ile191Ile |
M0044542 | HKHCGNOH_00038 | 39590 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 565C>A | His189Asn |
M0044543 | HKHCGNOH_00038 | 39615 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 540T>C | Ser180Ser |
M0044544 | HKHCGNOH_00038 | 39618 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 537A>G | Arg179Arg |
M0044545 | HKHCGNOH_00038 | 39627 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 528C>T | Thr176Thr |
M0044546 | HKHCGNOH_00038 | 39699 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 456T>C | Tyr152Tyr |
M0044547 | HKHCGNOH_00038 | 39717 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 438A>G | Pro146Pro |
M0044548 | HKHCGNOH_00038 | 39774 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 381A>G | Leu127Leu |
M0044549 | HKHCGNOH_00038 | 39777 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 378C>A | Ala126Ala |
M0044550 | HKHCGNOH_00038 | 40020 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 135C>T | Tyr45Tyr |
M0044551 | HKHCGNOH_00038 | 40086 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 69G>C | Ala23Ala |
M0044552 | HKHCGNOH_00035 | 40265 | 5 | Skin | 0.10 | protein_coding | upstream_gene_variant | MODIFIER | -3532T>C | None |
M0044553 | HKHCGNOH_00039 | 40352 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 972T>C | Gly324Gly |
M0044554 | HKHCGNOH_00039 | 40391 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 933C>T | Leu311Leu |
M0044555 | HKHCGNOH_00039 | 40592 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 732C>T | Ser244Ser |
M0044556 | HKHCGNOH_00039 | 40961 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 363C>T | Cys121Cys |
M0044557 | HKHCGNOH_00035 | 41361 | 5 | Skin | 0.10 | protein_coding | upstream_gene_variant | MODIFIER | -4628T>G | None |
M0044558 | HKHCGNOH_00035 | 41498 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4765C>A | None |
M0044559 | HKHCGNOH_00035 | 41500 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4767C>A | None |
M0044560 | HKHCGNOH_00040 | 41514 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 10C>G | Pro4Ala |
M0044561 | HKHCGNOH_00040 | 41524 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 20A>G | Glu7Gly |
M0044562 | HKHCGNOH_00040 | 41538 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 34T>G | Cys12Gly |
M0044563 | HKHCGNOH_00040 | 41546 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 42T>A | Ile14Ile |
M0044564 | HKHCGNOH_00040 | 41554 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 50T>C | Leu17Pro |
M0044565 | HKHCGNOH_00040 | 41827 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 323G>T | Gly108Val |
M0044566 | HKHCGNOH_00040 | 42047 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 543T>A | Val181Val |
M0044567 | HKHCGNOH_00036 | 42524 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4943T>A | None |
M0044568 | HKHCGNOH_00041 | 42756 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1521G>C | Arg507Arg |
M0044569 | HKHCGNOH_00041 | 43227 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1050C>G | Pro350Pro |
M0044570 | HKHCGNOH_00041 | 43253 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 1024G>C | Val342Leu |
M0044571 | HKHCGNOH_00041 | 43717 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 560A>C | Asp187Ala |
M0044572 | HKHCGNOH_00041 | 43844 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 433A>G | Asn145Asp |
M0044573 | HKHCGNOH_00041 | 43848 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 429G>A | Gln143Gln |
M0044574 | HKHCGNOH_00041 | 43932 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 345G>C | Thr115Thr |
M0044575 | HKHCGNOH_00043 | 45294 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 529T>C | Leu177Leu |
M0044576 | HKHCGNOH_00043 | 45295 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 528G>A | Glu176Glu |
M0044577 | HKHCGNOH_00043 | 45325 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 498T>C | Ile166Ile |
M0044578 | HKHCGNOH_00043 | 45328 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 495A>C | Ala165Ala |
M0044579 | HKHCGNOH_00053 | 55996 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 744C>T | Gly248Gly |
M0044580 | HKHCGNOH_00048 | 56482 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4855G>T | None |
M0044581 | HKHCGNOH_00054 | 57362 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 708T>C | Tyr236Tyr |
M0044582 | HKHCGNOH_00054 | 57548 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 894T>C | Pro298Pro |
M0044583 | HKHCGNOH_00055 | 57720 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 53A>G | His18Arg |
M0044584 | HKHCGNOH_00056 | 57861 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 922C>T | Leu308Leu |
M0044585 | HKHCGNOH_00056 | 57862 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 921G>A | Gly307Gly |
M0044586 | HKHCGNOH_00056 | 58417 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 366T>C | Gly122Gly |
M0044587 | HKHCGNOH_00058 | 62104 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1458T>C | Ser486Ser |
M0044588 | HKHCGNOH_00058 | 62212 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1566C>T | Arg522Arg |
M0044589 | HKHCGNOH_00060 | 64413 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 492T>A | Thr164Thr |
M0044590 | HKHCGNOH_00057 | 64984 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4791T>C | None |
M0044591 | HKHCGNOH_00057 | 65004 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4811T>C | None |
M0044592 | HKHCGNOH_00061 | 65062 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 54T>C | Thr18Thr |
M0044593 | HKHCGNOH_00061 | 65303 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 295T>C | Leu99Leu |
M0044594 | HKHCGNOH_00061 | 65308 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 300C>A | Ile100Ile |
M0044595 | HKHCGNOH_00061 | 65805 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 797A>G | Gln266Arg |
M0044596 | HKHCGNOH_00061 | 65839 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 831T>C | Ile277Ile |
M0044597 | HKHCGNOH_00062 | 66318 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 1285G>A | Val429Ile |
M0044598 | HKHCGNOH_00062 | 66421 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1182C>T | Tyr394Tyr |
M0044599 | HKHCGNOH_00062 | 66565 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1038T>C | Asn346Asn |
M0044600 | HKHCGNOH_00062 | 66667 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 936A>G | Gln312Gln |
M0044601 | HKHCGNOH_00062 | 66706 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 897C>T | Phe299Phe |
M0044602 | HKHCGNOH_00062 | 66718 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 885G>C | Ala295Ala |
M0044603 | HKHCGNOH_00062 | 66778 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 825A>T | Ile275Ile |
M0044604 | HKHCGNOH_00062 | 66782 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 821C>A | Ala274Glu |
M0044605 | HKHCGNOH_00062 | 66830 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 773A>G | His258Arg |
M0044606 | HKHCGNOH_00063 | 68006 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 132T>C | Ile44Ile |
M0044607 | HKHCGNOH_00060 | 68535 | 4 | Skin | 0.08 | protein_coding | upstream_gene_variant | MODIFIER | -3631T>G | None |
M0044608 | HKHCGNOH_00064 | 69080 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 211C>A | Arg71Ser |
M0044609 | HKHCGNOH_00064 | 69277 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 408G>A | Glu136Glu |
M0044610 | HKHCGNOH_00064 | 69355 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 486T>C | Gly162Gly |
M0044611 | HKHCGNOH_00064 | 69481 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 612T>C | Val204Val |
M0044612 | HKHCGNOH_00064 | 69511 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 642T>A | Leu214Leu |
M0044613 | HKHCGNOH_00064 | 69651 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 782G>A | Arg261Gln |
M0044614 | HKHCGNOH_00064 | 69709 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 840C>T | Ile280Ile |
M0044615 | HKHCGNOH_00064 | 69853 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 984T>C | Phe328Phe |
M0044616 | HKHCGNOH_00064 | 69945 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 1076A>G | His359Arg |
M0044617 | HKHCGNOH_00064 | 70200 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 1331A>G | His444Arg |
M0044618 | HKHCGNOH_00064 | 70286 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 1417T>A | Cys473Ser |
M0044619 | HKHCGNOH_00066 | 72111 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 667T>G | Ser223Ala |
M0044620 | HKHCGNOH_00067 | 73363 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 417A>T | Ala139Ala |
M0044621 | HKHCGNOH_00069 | 76263 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 552C>G | Gly184Gly |
M0044622 | HKHCGNOH_00071 | 77690 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 321T>C | Phe107Phe |
M0044623 | HKHCGNOH_00082 | 93320 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4745C>A | None |
M0044624 | HKHCGNOH_00087 | 93683 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1128A>G | Gln376Gln |
M0044625 | HKHCGNOH_00087 | 94010 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 801A>G | Glu267Glu |
M0044626 | HKHCGNOH_00087 | 94292 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 519A>G | Gln173Gln |
M0044627 | HKHCGNOH_00087 | 94313 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 498T>C | Ala166Ala |
M0044628 | HKHCGNOH_00087 | 94316 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 495C>T | Phe165Phe |
M0044629 | HKHCGNOH_00087 | 94331 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 480A>G | Ala160Ala |
M0044630 | HKHCGNOH_00087 | 94340 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 471A>G | Leu157Leu |
M0044631 | HKHCGNOH_00087 | 94358 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 453A>G | Gln151Gln |
M0044632 | HKHCGNOH_00088 | 94997 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1215A>G | Ala405Ala |
M0044633 | HKHCGNOH_00088 | 95314 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 898T>C | Leu300Leu |
M0044634 | HKHCGNOH_00088 | 95852 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 360A>G | Glu120Glu |
M0044635 | HKHCGNOH_00088 | 95984 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 228C>T | His76His |
M0044636 | HKHCGNOH_00088 | 95999 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 213G>T | Ala71Ala |
M0044637 | HKHCGNOH_00088 | 96169 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 43A>T | Met15Leu |
M0044638 | HKHCGNOH_00089 | 96714 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 738A>G | Arg246Arg |
M0044639 | HKHCGNOH_00089 | 97239 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 213A>T | Ala71Ala |
M0044640 | HKHCGNOH_00090 | 97480 | 3 | Skin | 0.06 | protein_coding | splice_region_variant&stop_retained_variant | LOW | 740G>A | Ter247Ter |
M0044641 | HKHCGNOH_00090 | 97521 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 699A>C | Val233Val |
M0044642 | HKHCGNOH_00090 | 97593 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 627T>C | Arg209Arg |
M0044643 | HKHCGNOH_00090 | 97623 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 597C>T | Leu199Leu |
M0044644 | HKHCGNOH_00090 | 97971 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 249G>A | Arg83Arg |
M0044645 | HKHCGNOH_00090 | 97992 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 228A>C | Leu76Leu |
M0044646 | HKHCGNOH_00090 | 98014 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 206T>C | Val69Ala |
M0044647 | HKHCGNOH_00090 | 98031 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 189G>A | Gly63Gly |
M0044648 | HKHCGNOH_00090 | 98067 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 153T>C | Ser51Ser |
M0044649 | HKHCGNOH_00090 | 98097 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 123A>G | Ala41Ala |
M0044650 | HKHCGNOH_00090 | 98109 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 111T>G | Ala37Ala |
M0044651 | HKHCGNOH_00099 | 105938 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 444A>G | Glu148Glu |
M0044652 | HKHCGNOH_00101 | 108530 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 388C>T | Leu130Leu |
M0044653 | HKHCGNOH_00101 | 108705 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 213C>G | Pro71Pro |
M0044654 | HKHCGNOH_00101 | 108723 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 195C>T | Val65Val |
M0044655 | HKHCGNOH_00101 | 108789 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 129T>A | Asn43Lys |
M0044656 | HKHCGNOH_00101 | 108861 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 57A>G | Ala19Ala |
M0044657 | HKHCGNOH_00101 | 108894 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 24C>T | Leu8Leu |
M0044658 | HKHCGNOH_00099 | 109019 | 4 | Skin | 0.08 | protein_coding | upstream_gene_variant | MODIFIER | -2638T>C | None |
M0044659 | HKHCGNOH_00099 | 109072 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -2691C>A | None |
M0044660 | HKHCGNOH_00102 | 109185 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 27A>C | Ala9Ala |
M0044661 | HKHCGNOH_00099 | 109677 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -3296G>A | None |
M0044662 | HKHCGNOH_00103 | 110177 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 58A>G | Thr20Ala |
M0044663 | HKHCGNOH_00105 | 111388 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 219G>T | Thr73Thr |
M0044664 | HKHCGNOH_00105 | 111586 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 417T>C | Val139Val |
M0044665 | HKHCGNOH_00105 | 111646 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 477A>G | Leu159Leu |
M0044666 | HKHCGNOH_00105 | 111832 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 663C>A | Leu221Leu |
M0044667 | HKHCGNOH_00105 | 111887 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 718T>C | Leu240Leu |
M0044668 | HKHCGNOH_00105 | 111943 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 774T>C | His258His |
M0044669 | HKHCGNOH_00105 | 112025 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 856T>C | Leu286Leu |
M0044670 | HKHCGNOH_00105 | 112036 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 867T>C | Tyr289Tyr |
M0044671 | HKHCGNOH_00105 | 112087 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 918T>C | Arg306Arg |
M0044672 | HKHCGNOH_00105 | 112165 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 996A>G | Ala332Ala |
M0044673 | HKHCGNOH_00106 | 112550 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 23A>C | Asp8Ala |
M0044674 | HKHCGNOH_00106 | 112556 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 29A>G | Asn10Ser |
M0044675 | HKHCGNOH_00106 | 112566 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 39G>A | Val13Val |
M0044676 | HKHCGNOH_00106 | 112605 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 78A>G | Leu26Leu |
M0044677 | HKHCGNOH_00106 | 112608 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 81T>A | Leu27Leu |
M0044678 | HKHCGNOH_00106 | 112617 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 90T>C | Ile30Ile |
M0044679 | HKHCGNOH_00106 | 112624 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 97C>A | Leu33Ile |
M0044680 | HKHCGNOH_00106 | 112641 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 114G>T | Ser38Ser |
M0044681 | HKHCGNOH_00106 | 112734 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 207A>G | Val69Val |
M0044682 | HKHCGNOH_00106 | 112779 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 252T>G | Ala84Ala |
M0044683 | HKHCGNOH_00106 | 112845 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 318C>T | His106His |
M0044684 | HKHCGNOH_00106 | 112848 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 321T>C | Asn107Asn |
M0044685 | HKHCGNOH_00106 | 112872 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 345T>C | Phe115Phe |
M0044686 | HKHCGNOH_00106 | 112887 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 360A>G | Ala120Ala |
M0044687 | HKHCGNOH_00106 | 112908 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 381C>T | Arg127Arg |
M0044688 | HKHCGNOH_00106 | 112914 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 387T>C | His129His |
M0044689 | HKHCGNOH_00106 | 113007 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 480T>C | Thr160Thr |
M0044690 | HKHCGNOH_00106 | 113013 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 486A>G | Lys162Lys |
M0044691 | HKHCGNOH_00106 | 113052 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 525C>T | Gly175Gly |
M0044692 | HKHCGNOH_00106 | 113469 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 942T>C | Ser314Ser |
M0044693 | HKHCGNOH_00106 | 113547 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1020C>G | Ser340Ser |
M0044694 | HKHCGNOH_00106 | 113721 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1194A>C | Thr398Thr |
M0044695 | HKHCGNOH_00107 | 113819 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 60T>C | Ala20Ala |
M0044696 | HKHCGNOH_00107 | 113960 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 201C>T | Arg67Arg |
M0044697 | HKHCGNOH_00107 | 114221 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 462T>C | Ala154Ala |
M0044698 | HKHCGNOH_00107 | 114284 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 525T>C | Gly175Gly |
M0044699 | HKHCGNOH_00107 | 114662 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 903T>C | Ile301Ile |
M0044700 | HKHCGNOH_00107 | 114722 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 963T>C | Arg321Arg |
M0044701 | HKHCGNOH_00107 | 114741 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 982C>T | Leu328Leu |
M0044702 | HKHCGNOH_00107 | 114743 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 984G>A | Leu328Leu |
M0044703 | HKHCGNOH_00107 | 115401 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 1642A>G | Asn548Asp |
M0044704 | HKHCGNOH_00107 | 115412 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1653C>T | Val551Val |
M0044705 | HKHCGNOH_00107 | 115544 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1785C>T | Asn595Asn |
M0044706 | HKHCGNOH_00107 | 115886 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 2127T>C | Leu709Leu |
M0044707 | HKHCGNOH_00107 | 116036 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2277T>C | Ile759Ile |
M0044708 | HKHCGNOH_00107 | 116273 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2514T>C | Ala838Ala |
M0044709 | HKHCGNOH_00107 | 117227 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 3468C>T | Phe1156Phe |
M0044710 | HKHCGNOH_00107 | 117248 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 3489C>G | Ala1163Ala |
M0044711 | HKHCGNOH_00108 | 117548 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 161C>A | Pro54Gln |
M0044712 | HKHCGNOH_00108 | 117609 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 222A>G | Val74Val |
M0044713 | HKHCGNOH_00108 | 117699 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 312A>G | Ser104Ser |
M0044714 | HKHCGNOH_00108 | 117709 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 322T>C | Phe108Leu |
M0044715 | HKHCGNOH_00108 | 117717 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 330A>G | Gln110Gln |
M0044716 | HKHCGNOH_00108 | 117900 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 513T>C | Gly171Gly |
M0044717 | HKHCGNOH_00108 | 117993 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 606G>C | Val202Val |
M0044718 | HKHCGNOH_00109 | 118316 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 210G>A | Leu70Leu |
M0044719 | HKHCGNOH_00109 | 118508 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 402A>G | Ala134Ala |
M0044720 | HKHCGNOH_00109 | 118536 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 430C>T | Leu144Leu |
M0044721 | HKHCGNOH_00109 | 118676 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 570A>T | Ile190Ile |
M0044722 | HKHCGNOH_00109 | 118790 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 684T>C | Ile228Ile |
M0044723 | HKHCGNOH_00109 | 118811 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 705C>A | Ile235Ile |
M0044724 | HKHCGNOH_00109 | 118885 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 779T>C | Leu260Pro |
M0044725 | HKHCGNOH_00109 | 118946 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 840A>G | Gln280Gln |
M0044726 | HKHCGNOH_00110 | 119357 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 165C>G | Pro55Pro |
M0044727 | HKHCGNOH_00110 | 119627 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 435T>G | Leu145Leu |
M0044728 | HKHCGNOH_00111 | 119882 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 162T>C | Asn54Asn |
M0044729 | HKHCGNOH_00111 | 119945 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 225A>G | Glu75Glu |
M0044730 | HKHCGNOH_00111 | 119987 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 267A>G | Glu89Glu |
M0044731 | HKHCGNOH_00111 | 120110 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 390A>G | Lys130Lys |
M0044732 | HKHCGNOH_00111 | 120164 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 444A>G | Glu148Glu |
M0044733 | HKHCGNOH_00111 | 120209 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 489T>C | Val163Val |
M0044734 | HKHCGNOH_00111 | 120269 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 549A>T | Arg183Arg |
M0044735 | HKHCGNOH_00111 | 120287 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 567T>C | His189His |
M0044736 | HKHCGNOH_00111 | 120707 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 987G>A | Lys329Lys |
M0044737 | HKHCGNOH_00111 | 120743 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1023A>G | Glu341Glu |
M0044738 | HKHCGNOH_00111 | 120866 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1146T>G | Ala382Ala |
M0044739 | HKHCGNOH_00111 | 120869 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1149C>T | Asn383Asn |
M0044740 | HKHCGNOH_00111 | 121082 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1362G>A | Val454Val |
M0044741 | HKHCGNOH_00111 | 121088 | 6 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 1368T>A | Val456Val |
M0044742 | HKHCGNOH_00112 | 121228 | 5 | Skin | 0.10 | protein_coding | upstream_gene_variant | MODIFIER | -442A>C | None |
M0044743 | HKHCGNOH_00112 | 121993 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 324T>C | Ser108Ser |
M0044744 | HKHCGNOH_00116 | 125324 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 789C>G | Ala263Ala |
M0044745 | HKHCGNOH_00116 | 125504 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 969T>C | Arg323Arg |
M0044746 | HKHCGNOH_00116 | 125738 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1203G>T | Arg401Arg |
M0044747 | HKHCGNOH_00117 | 126826 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 564C>T | Asp188Asp |
M0044748 | HKHCGNOH_00118 | 127387 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 309G>T | Gly103Gly |
M0044749 | HKHCGNOH_00119 | 128265 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 194A>G | Gln65Arg |
M0044750 | HKHCGNOH_00121 | 131132 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1704C>T | Asp568Asp |
M0044751 | HKHCGNOH_00122 | 131416 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 120A>G | Ala40Ala |
M0044752 | HKHCGNOH_00122 | 131509 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 213A>C | Pro71Pro |
M0044753 | HKHCGNOH_00122 | 131512 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 216A>G | Ala72Ala |
M0044754 | HKHCGNOH_00122 | 131518 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 222A>G | Leu74Leu |
M0044755 | HKHCGNOH_00122 | 131538 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 242C>A | Ala81Glu |
M0044756 | HKHCGNOH_00123 | 132545 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 156T>C | Asp52Asp |
M0044757 | HKHCGNOH_00123 | 132899 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 510T>G | Thr170Thr |
M0044758 | HKHCGNOH_00123 | 133811 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1422C>T | Thr474Thr |
M0044759 | HKHCGNOH_00123 | 134261 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1872A>G | Ala624Ala |
M0044760 | HKHCGNOH_00124 | 136157 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1131G>A | Pro377Pro |
M0044761 | HKHCGNOH_00124 | 136268 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1242C>T | Leu414Leu |
M0044762 | HKHCGNOH_00125 | 136461 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -69C>A | None |
M0044763 | HKHCGNOH_00125 | 136462 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -68T>C | None |
M0044764 | HKHCGNOH_00125 | 136468 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -62G>A | None |
M0044765 | HKHCGNOH_00133 | 142932 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 31T>C | Leu11Leu |
M0044766 | HKHCGNOH_00133 | 142939 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 38C>T | Ala13Val |
M0044767 | HKHCGNOH_00133 | 142940 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 39A>C | Ala13Ala |
M0044768 | HKHCGNOH_00133 | 142974 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 73A>C | Ile25Leu |
M0044769 | HKHCGNOH_00133 | 143054 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 153A>G | Ala51Ala |
M0044770 | HKHCGNOH_00133 | 143123 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 222G>A | Lys74Lys |
M0044771 | HKHCGNOH_00133 | 143144 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 243T>G | Val81Val |
M0044772 | HKHCGNOH_00133 | 143166 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 265T>C | Tyr89His |
M0044773 | HKHCGNOH_00134 | 143628 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 327T>G | His109Gln |
M0044774 | HKHCGNOH_00135 | 144096 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 378G>C | Leu126Leu |
M0044775 | HKHCGNOH_00135 | 144147 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 429T>G | Gly143Gly |
M0044776 | HKHCGNOH_00135 | 144154 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 436A>G | Ile146Val |
M0044777 | HKHCGNOH_00135 | 144183 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 465G>A | Glu155Glu |
M0044778 | HKHCGNOH_00135 | 144291 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 573G>C | Arg191Arg |
M0044779 | HKHCGNOH_00135 | 144623 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 905T>A | Leu302His |
M0044780 | HKHCGNOH_00135 | 144690 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 972T>C | Gly324Gly |
M0044781 | HKHCGNOH_00135 | 144768 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1050C>T | Phe350Phe |
M0044782 | HKHCGNOH_00135 | 144804 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1086T>C | Gly362Gly |
M0044783 | HKHCGNOH_00135 | 145119 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1401A>G | Arg467Arg |
M0044784 | HKHCGNOH_00135 | 145147 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 1429G>C | Asp477His |
M0044785 | HKHCGNOH_00135 | 145194 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1476C>T | His492His |
M0044786 | HKHCGNOH_00135 | 145587 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1869T>C | Cys623Cys |
M0044787 | HKHCGNOH_00135 | 145599 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1881T>C | Asn627Asn |
M0044788 | HKHCGNOH_00135 | 145600 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 1882A>G | Thr628Ala |
M0044789 | HKHCGNOH_00135 | 145621 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 1903T>C | Phe635Leu |
M0044790 | HKHCGNOH_00135 | 145656 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 1938T>G | His646Gln |
M0044791 | HKHCGNOH_00135 | 145666 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1948T>C | Leu650Leu |
M0044792 | HKHCGNOH_00135 | 145863 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2145A>G | Ala715Ala |
M0044793 | HKHCGNOH_00135 | 145884 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2166T>C | Ile722Ile |
M0044794 | HKHCGNOH_00135 | 146118 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2400A>G | Gln800Gln |
M0044795 | HKHCGNOH_00135 | 146121 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2403G>T | Leu801Leu |
M0044796 | HKHCGNOH_00135 | 146202 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2484T>C | Asp828Asp |
M0044797 | HKHCGNOH_00136 | 146458 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 203T>A | Leu68Gln |
M0044798 | HKHCGNOH_00136 | 146592 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 337G>A | Ala113Thr |
M0044799 | HKHCGNOH_00136 | 146643 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 388A>C | Ser130Arg |
M0044800 | HKHCGNOH_00136 | 146663 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 408T>C | Arg136Arg |
M0044801 | HKHCGNOH_00136 | 146684 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 429C>T | Asp143Asp |
M0044802 | HKHCGNOH_00136 | 146762 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 507T>G | Leu169Leu |
M0044803 | HKHCGNOH_00136 | 146771 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 516C>G | Ile172Met |
M0044804 | HKHCGNOH_00136 | 146843 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 588T>C | Gly196Gly |
M0044805 | HKHCGNOH_00136 | 146939 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 684A>G | Glu228Glu |
M0044806 | HKHCGNOH_00136 | 147188 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 933T>C | Gly311Gly |
M0044807 | HKHCGNOH_00136 | 147209 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 954A>G | Arg318Arg |
M0044808 | HKHCGNOH_00137 | 147372 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 35T>C | Val12Ala |
M0044809 | HKHCGNOH_00137 | 147478 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 141C>T | Ser47Ser |
M0044810 | HKHCGNOH_00137 | 147531 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 194G>A | Ser65Asn |
M0044811 | HKHCGNOH_00137 | 147583 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 246A>G | Glu82Glu |
M0044812 | HKHCGNOH_00137 | 147710 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 373T>C | Phe125Leu |
M0044813 | HKHCGNOH_00137 | 147940 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 603T>C | Gly201Gly |
M0044814 | HKHCGNOH_00138 | 148061 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 108A>G | Gly36Gly |
M0044815 | HKHCGNOH_00138 | 148172 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 219T>G | Gly73Gly |
M0044816 | HKHCGNOH_00138 | 148175 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 222A>G | Val74Val |
M0044817 | HKHCGNOH_00138 | 148217 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 264C>T | Gly88Gly |
M0044818 | HKHCGNOH_00139 | 148840 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 480A>G | Leu160Leu |
M0044819 | HKHCGNOH_00140 | 149078 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 378T>C | Gly126Gly |
M0044820 | HKHCGNOH_00140 | 149245 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 211A>C | Lys71Gln |
M0044821 | HKHCGNOH_00140 | 149309 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 147T>C | Ala49Ala |
M0044822 | HKHCGNOH_00140 | 149325 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 131A>G | Asp44Gly |
M0044823 | HKHCGNOH_00140 | 149387 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 69T>C | Val23Val |
M0044824 | HKHCGNOH_00140 | 149420 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 36T>C | Thr12Thr |
M0044825 | HKHCGNOH_00141 | 150303 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 624A>C | Pro208Pro |
M0044826 | HKHCGNOH_00141 | 150454 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 775A>C | Arg259Arg |
M0044827 | HKHCGNOH_00141 | 150699 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1020T>C | Ile340Ile |
M0044828 | HKHCGNOH_00144 | 152986 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 66A>T | Ile22Ile |
M0044829 | HKHCGNOH_00144 | 153129 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 209G>T | Ser70Ile |
M0044830 | HKHCGNOH_00145 | 153793 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 688A>G | Ile230Val |
M0044831 | HKHCGNOH_00145 | 153842 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 639C>T | Ala213Ala |
M0044832 | HKHCGNOH_00145 | 153859 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 622C>A | Leu208Ile |
M0044833 | HKHCGNOH_00145 | 153860 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 621C>G | Ala207Ala |
M0044834 | HKHCGNOH_00145 | 153899 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 582T>G | Gly194Gly |
M0044835 | HKHCGNOH_00145 | 153907 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 574C>T | Leu192Leu |
M0044836 | HKHCGNOH_00145 | 153920 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 561G>A | Glu187Glu |
M0044837 | HKHCGNOH_00145 | 153926 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 555C>T | His185His |
M0044838 | HKHCGNOH_00145 | 153937 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 544C>A | Arg182Ser |
M0044839 | HKHCGNOH_00145 | 153941 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 540A>G | Arg180Arg |
M0044840 | HKHCGNOH_00145 | 153944 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 537C>A | Gly179Gly |
M0044841 | HKHCGNOH_00145 | 153949 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 532G>C | Ala178Pro |
M0044842 | HKHCGNOH_00145 | 153952 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 529C>T | Leu177Leu |
M0044843 | HKHCGNOH_00145 | 153965 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 516T>C | Ser172Ser |
M0044844 | HKHCGNOH_00145 | 154049 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 432A>G | Arg144Arg |
M0044845 | HKHCGNOH_00145 | 154267 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 214G>T | Ala72Ser |
M0044846 | HKHCGNOH_00145 | 154270 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 211A>C | Arg71Arg |
M0044847 | HKHCGNOH_00145 | 154304 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 177T>C | His59His |
M0044848 | HKHCGNOH_00145 | 154310 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 171G>C | Gly57Gly |
M0044849 | HKHCGNOH_00145 | 154349 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 132C>T | His44His |
M0044850 | HKHCGNOH_00146 | 154620 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 914A>G | Asn305Ser |
M0044851 | HKHCGNOH_00146 | 154694 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 840T>C | Asp280Asp |
M0044852 | HKHCGNOH_00146 | 154772 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 762A>G | Arg254Arg |
M0044853 | HKHCGNOH_00146 | 154850 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 684A>T | Gly228Gly |
M0044854 | HKHCGNOH_00146 | 154862 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 672C>G | Arg224Arg |
M0044855 | HKHCGNOH_00146 | 154868 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 666C>T | Gly222Gly |
M0044856 | HKHCGNOH_00146 | 155269 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 265T>C | Leu89Leu |
M0044857 | HKHCGNOH_00146 | 155288 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 246T>C | Ile82Ile |
M0044858 | HKHCGNOH_00146 | 155291 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 243C>T | Gly81Gly |
M0044859 | HKHCGNOH_00146 | 155298 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 236C>A | Ala79Glu |
M0044860 | HKHCGNOH_00146 | 155515 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 19A>G | Thr7Ala |
M0044861 | HKHCGNOH_00147 | 155847 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 189A>C | Gly63Gly |
M0044862 | HKHCGNOH_00147 | 156066 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 408T>C | Asp136Asp |
M0044863 | HKHCGNOH_00147 | 156079 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 421T>G | Ser141Ala |
M0044864 | HKHCGNOH_00147 | 156456 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 798A>G | Leu266Leu |
M0044865 | HKHCGNOH_00147 | 156459 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 801A>G | Arg267Arg |
M0044866 | HKHCGNOH_00147 | 156564 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 906C>T | Ala302Ala |
M0044867 | HKHCGNOH_00148 | 156864 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 864T>C | His288His |
M0044868 | HKHCGNOH_00148 | 156948 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 780T>C | Thr260Thr |
M0044869 | HKHCGNOH_00148 | 157059 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 669A>G | Leu223Leu |
M0044870 | HKHCGNOH_00148 | 157122 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 606C>G | Gly202Gly |
M0044871 | HKHCGNOH_00148 | 157214 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 514A>C | Ser172Arg |
M0044872 | HKHCGNOH_00148 | 157440 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 288A>C | Gly96Gly |
M0044873 | HKHCGNOH_00148 | 157504 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 224G>A | Gly75Glu |
M0044874 | HKHCGNOH_00148 | 157653 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 75T>A | Ala25Ala |
M0044875 | HKHCGNOH_00145 | 157829 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -3349T>C | None |
M0044876 | HKHCGNOH_00145 | 157839 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -3359T>C | None |
M0044877 | HKHCGNOH_00145 | 157971 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -3491C>T | None |
M0044878 | HKHCGNOH_00145 | 157976 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -3496T>A | None |
M0044879 | HKHCGNOH_00145 | 157992 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -3512A>G | None |
M0044880 | HKHCGNOH_00149 | 158362 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 276C>T | Ala92Ala |
M0044881 | HKHCGNOH_00149 | 158719 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 633T>C | Gly211Gly |
M0044882 | HKHCGNOH_00149 | 158740 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 654T>C | Ala218Ala |
M0044883 | HKHCGNOH_00149 | 159127 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1041A>T | Pro347Pro |
M0044884 | HKHCGNOH_00149 | 159244 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1158G>C | Thr386Thr |
M0044885 | HKHCGNOH_00149 | 159295 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1209C>T | Ile403Ile |
M0044886 | HKHCGNOH_00149 | 159310 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1224A>T | Ala408Ala |
M0044887 | HKHCGNOH_00149 | 159349 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1263C>T | Phe421Phe |
M0044888 | HKHCGNOH_00150 | 159736 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 290A>C | Asp97Ala |
M0044889 | HKHCGNOH_00150 | 159815 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 369A>G | Gly123Gly |
M0044890 | HKHCGNOH_00152 | 160653 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 975G>T | Val325Val |
M0044891 | HKHCGNOH_00152 | 160740 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 888T>G | Pro296Pro |
M0044892 | HKHCGNOH_00152 | 160803 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 825A>C | Ile275Ile |
M0044893 | HKHCGNOH_00152 | 161427 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 201G>C | Arg67Arg |
M0044894 | HKHCGNOH_00152 | 161470 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 158C>G | Ala53Gly |
M0044895 | HKHCGNOH_00152 | 161606 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 22T>C | Leu8Leu |
M0044896 | HKHCGNOH_00153 | 161959 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1260T>G | Pro420Pro |
M0044897 | HKHCGNOH_00153 | 162085 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1134A>G | Glu378Glu |
M0044898 | HKHCGNOH_00153 | 162088 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1131A>T | Pro377Pro |
M0044899 | HKHCGNOH_00153 | 162991 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 228A>G | Leu76Leu |
M0044900 | HKHCGNOH_00152 | 163346 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -1719C>T | None |
M0044901 | HKHCGNOH_00154 | 163457 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 96G>A | Gln32Gln |
M0044902 | HKHCGNOH_00154 | 163460 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 99A>G | Leu33Leu |
M0044903 | HKHCGNOH_00154 | 163490 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 129A>G | Ala43Ala |
M0044904 | HKHCGNOH_00154 | 163529 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 168T>C | Arg56Arg |
M0044905 | HKHCGNOH_00154 | 163700 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 339T>G | Leu113Leu |
M0044906 | HKHCGNOH_00154 | 164012 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 651C>T | Cys217Cys |
M0044907 | HKHCGNOH_00155 | 164377 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 300T>C | Ala100Ala |
M0044908 | HKHCGNOH_00156 | 164909 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 76G>A | Asp26Asn |
M0044909 | HKHCGNOH_00156 | 165715 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 882A>C | Thr294Thr |
M0044910 | HKHCGNOH_00107 | 114011 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 252C>A | Asp84Glu |
M0044911 | HKHCGNOH_00107 | 114014 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 255G>A | Thr85Thr |
M0044912 | HKHCGNOH_00107 | 115532 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1773A>G | Leu591Leu |
M0044913 | HKHCGNOH_00005 | 7540 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 731T>A | Val244Asp |
M0044914 | HKHCGNOH_00005 | 7722 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 549T>C | Ser183Ser |
M0044915 | HKHCGNOH_00005 | 7983 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 288A>T | Ile96Ile |
M0044916 | HKHCGNOH_00005 | 8031 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 240A>G | Ser80Ser |
M0044917 | HKHCGNOH_00005 | 8058 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 213A>G | Gln71Gln |
M0044918 | HKHCGNOH_00004 | 8283 | 5 | Skin | 0.10 | protein_coding | upstream_gene_variant | MODIFIER | -1457A>T | None |
M0044919 | HKHCGNOH_00004 | 8322 | 4 | Skin | 0.08 | protein_coding | upstream_gene_variant | MODIFIER | -1496T>C | None |
M0044920 | HKHCGNOH_00004 | 8332 | 4 | Skin | 0.08 | protein_coding | upstream_gene_variant | MODIFIER | -1506G>T | None |
M0044921 | HKHCGNOH_00006 | 8586 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 447T>C | Asp149Asp |
M0044922 | HKHCGNOH_00006 | 8631 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 402T>C | Asn134Asn |
M0044923 | HKHCGNOH_00006 | 8951 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 82A>G | Thr28Ala |
M0044924 | HKHCGNOH_00004 | 9040 | 4 | Skin | 0.08 | protein_coding | upstream_gene_variant | MODIFIER | -2214A>G | None |
M0044925 | HKHCGNOH_00007 | 9409 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 256T>C | Leu86Leu |
M0044926 | HKHCGNOH_00007 | 9486 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 333C>T | Ile111Ile |
M0044927 | HKHCGNOH_00007 | 9537 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 384A>G | Gln128Gln |
M0044928 | HKHCGNOH_00007 | 9699 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 546G>T | Val182Val |
M0044929 | HKHCGNOH_00007 | 9702 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 549C>A | Pro183Pro |
M0044930 | HKHCGNOH_00007 | 9705 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 552T>C | Arg184Arg |
M0044931 | HKHCGNOH_00007 | 9811 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 658T>C | Leu220Leu |
M0044932 | HKHCGNOH_00007 | 10290 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1137A>G | Ala379Ala |
M0044933 | HKHCGNOH_00007 | 10293 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1140G>A | Ala380Ala |
M0044934 | HKHCGNOH_00007 | 10302 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1149G>A | Glu383Glu |
M0044935 | HKHCGNOH_00007 | 10308 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1155G>C | Ala385Ala |
M0044936 | HKHCGNOH_00007 | 10311 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1158G>C | Ser386Ser |
M0044937 | HKHCGNOH_00007 | 10359 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1206T>C | Leu402Leu |
M0044938 | HKHCGNOH_00007 | 10362 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1209T>A | Gly403Gly |
M0044939 | HKHCGNOH_00007 | 10484 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 1331T>C | Val444Ala |
M0044940 | HKHCGNOH_00007 | 10506 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1353T>G | Pro451Pro |
M0044941 | HKHCGNOH_00008 | 10692 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 753C>G | Leu251Leu |
M0044942 | HKHCGNOH_00008 | 11058 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 387T>C | Ile129Ile |
M0044943 | HKHCGNOH_00008 | 11061 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 384C>T | Tyr128Tyr |
M0044944 | HKHCGNOH_00008 | 11106 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 339A>T | Gly113Gly |
M0044945 | HKHCGNOH_00008 | 11127 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 318T>C | Asp106Asp |
M0044946 | HKHCGNOH_00008 | 11148 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 297A>G | Lys99Lys |
M0044947 | HKHCGNOH_00008 | 11187 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 258C>A | Ala86Ala |
M0044948 | HKHCGNOH_00008 | 11193 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 252A>G | Val84Val |
M0044949 | HKHCGNOH_00008 | 11202 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 243A>G | Leu81Leu |
M0044950 | HKHCGNOH_00008 | 11205 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 240A>T | Leu80Leu |
M0044951 | HKHCGNOH_00004 | 11535 | 4 | Skin | 0.08 | protein_coding | upstream_gene_variant | MODIFIER | -4709A>G | None |
M0044952 | HKHCGNOH_00004 | 11553 | 4 | Skin | 0.08 | protein_coding | upstream_gene_variant | MODIFIER | -4727A>G | None |
M0044953 | HKHCGNOH_00009 | 12333 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 636A>C | Arg212Arg |
M0044954 | HKHCGNOH_00009 | 12339 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 642A>G | Leu214Leu |
M0044955 | HKHCGNOH_00009 | 12351 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 654T>G | Gly218Gly |
M0044956 | HKHCGNOH_00011 | 13389 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 202T>C | Cys68Arg |
M0044957 | HKHCGNOH_00011 | 13592 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 405A>G | Leu135Leu |
M0044958 | HKHCGNOH_00011 | 13634 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 447T>C | Asn149Asn |
M0044959 | HKHCGNOH_00011 | 13673 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 486C>T | Asn162Asn |
M0044960 | HKHCGNOH_00011 | 13689 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 502A>C | Lys168Gln |
M0044961 | HKHCGNOH_00011 | 13718 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 531C>T | Arg177Arg |
M0044962 | HKHCGNOH_00011 | 13964 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 777C>T | Ile259Ile |
M0044963 | HKHCGNOH_00011 | 13983 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 796T>A | Cys266Ser |
M0044964 | HKHCGNOH_00011 | 14027 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 840T>C | His280His |
M0044965 | HKHCGNOH_00011 | 14087 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 900A>C | Arg300Arg |
M0044966 | HKHCGNOH_00012 | 14336 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 111G>A | Leu37Leu |
M0044967 | HKHCGNOH_00012 | 14584 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 359A>G | Asn120Ser |
M0044968 | HKHCGNOH_00012 | 14725 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 500G>C | Gly167Ala |
M0044969 | HKHCGNOH_00012 | 14765 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 540T>C | Ser180Ser |
M0044970 | HKHCGNOH_00012 | 15158 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 933T>C | Asn311Asn |
M0044971 | HKHCGNOH_00012 | 15299 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1074G>A | Glu358Glu |
M0044972 | HKHCGNOH_00013 | 15817 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 210T>C | Val70Val |
M0044973 | HKHCGNOH_00014 | 16195 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 93T>C | Arg31Arg |
M0044974 | HKHCGNOH_00014 | 16204 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 102T>A | Val34Val |
M0044975 | HKHCGNOH_00014 | 16484 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 382T>C | Leu128Leu |
M0044976 | HKHCGNOH_00014 | 17060 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 958G>A | Val320Ile |
M0044977 | HKHCGNOH_00015 | 17287 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 159C>T | Ser53Ser |
M0044978 | HKHCGNOH_00015 | 17332 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 204C>T | Thr68Thr |
M0044979 | HKHCGNOH_00015 | 17383 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 255A>C | Leu85Leu |
M0044980 | HKHCGNOH_00015 | 17644 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 516T>C | Gly172Gly |
M0044981 | HKHCGNOH_00016 | 18016 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 705A>G | Val235Val |
M0044982 | HKHCGNOH_00016 | 18019 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 702T>G | Pro234Pro |
M0044983 | HKHCGNOH_00016 | 18094 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 627A>G | Leu209Leu |
M0044984 | HKHCGNOH_00016 | 18193 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 528C>G | Leu176Leu |
M0044985 | HKHCGNOH_00016 | 18343 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 378T>C | Leu126Leu |
M0044986 | HKHCGNOH_00016 | 18355 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 366T>C | His122His |
M0044987 | HKHCGNOH_00016 | 18433 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 288C>T | Gly96Gly |
M0044988 | HKHCGNOH_00016 | 18649 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 72G>C | Leu24Leu |
M0044989 | HKHCGNOH_00017 | 19415 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 414G>A | Lys138Lys |
M0044990 | HKHCGNOH_00018 | 19745 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 108A>G | Lys36Lys |
M0044991 | HKHCGNOH_00018 | 19871 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 234T>C | Tyr78Tyr |
M0044992 | HKHCGNOH_00018 | 19922 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 285C>T | Asn95Asn |
M0044993 | HKHCGNOH_00018 | 20056 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 419T>A | Val140Glu |
M0044994 | HKHCGNOH_00018 | 20333 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 696C>T | Ala232Ala |
M0044995 | HKHCGNOH_00018 | 20366 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 729A>C | Thr243Thr |
M0044996 | HKHCGNOH_00018 | 20771 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1134C>G | Ser378Ser |
M0044997 | HKHCGNOH_00018 | 20814 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 1177A>T | Thr393Ser |
M0044998 | HKHCGNOH_00018 | 20816 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1179C>G | Thr393Thr |
M0044999 | HKHCGNOH_00018 | 21024 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1387T>C | Leu463Leu |
M0045000 | HKHCGNOH_00018 | 21133 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 1496G>T | Gly499Val |
M0045001 | HKHCGNOH_00018 | 21263 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1626C>T | Asp542Asp |
M0045002 | HKHCGNOH_00018 | 21470 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1833A>G | Gly611Gly |
M0045003 | HKHCGNOH_00020 | 23360 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 423A>C | Glu141Asp |
M0045004 | HKHCGNOH_00020 | 23465 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 528T>C | Val176Val |
M0045005 | HKHCGNOH_00020 | 23534 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 597T>C | Arg199Arg |
M0045006 | HKHCGNOH_00023 | 25080 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 81G>A | Ala27Ala |
M0045007 | HKHCGNOH_00023 | 25092 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 69G>A | Glu23Glu |
M0045008 | HKHCGNOH_00021 | 26228 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -2259T>C | None |
M0045009 | HKHCGNOH_00101 | 108599 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 319A>G | Ile107Val |
M0045010 | HKHCGNOH_00107 | 113924 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 165C>G | Val55Val |
M0045011 | HKHCGNOH_00107 | 114116 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 357T>C | Ser119Ser |
M0045012 | HKHCGNOH_00107 | 114146 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 387C>G | Arg129Arg |
M0045013 | HKHCGNOH_00107 | 114422 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 663G>T | Arg221Arg |
M0045014 | HKHCGNOH_00109 | 118229 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 123T>C | Phe41Phe |
M0045015 | HKHCGNOH_00111 | 120473 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 753T>G | Pro251Pro |
M0045016 | HKHCGNOH_00111 | 120479 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 759G>T | Gly253Gly |
M0045017 | HKHCGNOH_00117 | 126337 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 75G>C | Val25Val |
M0045018 | HKHCGNOH_00117 | 126595 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 333T>C | Tyr111Tyr |
M0045019 | HKHCGNOH_00117 | 126610 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 348T>C | Gly116Gly |
M0045020 | HKHCGNOH_00122 | 131803 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 507T>C | Gly169Gly |
M0045021 | HKHCGNOH_00123 | 132900 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 511G>A | Gly171Ser |
M0045022 | HKHCGNOH_00123 | 134201 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1812G>C | Gly604Gly |
M0045023 | HKHCGNOH_00133 | 143192 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 291G>A | Glu97Glu |
M0045024 | HKHCGNOH_00135 | 144185 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 467G>A | Arg156His |
M0045025 | HKHCGNOH_00135 | 146019 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2301G>A | Val767Val |
M0045026 | HKHCGNOH_00136 | 146280 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 25C>A | Leu9Ile |
M0045027 | HKHCGNOH_00137 | 147622 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 285A>G | Gly95Gly |
M0045028 | HKHCGNOH_00137 | 147646 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 309C>G | Arg103Arg |
M0045029 | HKHCGNOH_00137 | 147739 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 402C>T | Ile134Ile |
M0045030 | HKHCGNOH_00142 | 151426 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 483G>A | Arg161Arg |
M0045031 | HKHCGNOH_00142 | 151472 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 529G>A | Val177Ile |
M0045032 | HKHCGNOH_00142 | 151585 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 642C>T | Cys214Cys |
M0045033 | HKHCGNOH_00142 | 151606 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 663T>C | Leu221Leu |
M0045034 | HKHCGNOH_00145 | 153962 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 519G>A | Pro173Pro |
M0045035 | HKHCGNOH_00145 | 154400 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 81C>T | Pro27Pro |
M0045036 | HKHCGNOH_00146 | 154715 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 819T>C | Ala273Ala |
M0045037 | HKHCGNOH_00146 | 154778 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 756G>A | Glu252Glu |
M0045038 | HKHCGNOH_00146 | 154781 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 753T>C | Gly251Gly |
M0045039 | HKHCGNOH_00166 | 174131 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 404G>A | Arg135Lys |
M0045040 | HKHCGNOH_00166 | 174432 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 705A>G | Glu235Glu |
M0045041 | HKHCGNOH_00166 | 174498 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 771C>T | Tyr257Tyr |
M0045042 | HKHCGNOH_00166 | 174513 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 786G>C | Arg262Arg |
M0045043 | HKHCGNOH_00167 | 175001 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 36T>A | Ala12Ala |
M0045044 | HKHCGNOH_00167 | 175379 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 414G>T | Gly138Gly |
M0045045 | HKHCGNOH_00167 | 175415 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 450G>A | Gln150Gln |
M0045046 | HKHCGNOH_00167 | 176130 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 1165A>G | Lys389Glu |
M0045047 | HKHCGNOH_00168 | 176653 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 972G>A | Ala324Ala |
M0045048 | HKHCGNOH_00168 | 177034 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 591A>G | Arg197Arg |
M0045049 | HKHCGNOH_00168 | 177058 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 567A>G | Val189Val |
M0045050 | HKHCGNOH_00168 | 177175 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 450T>C | Ala150Ala |
M0045051 | HKHCGNOH_00168 | 177394 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 231T>G | Ala77Ala |
M0045052 | HKHCGNOH_00168 | 177705 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -81A>G | None |
M0045053 | HKHCGNOH_00169 | 177964 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 210T>C | Arg70Arg |
M0045054 | HKHCGNOH_00169 | 178246 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 492C>A | Leu164Leu |
M0045055 | HKHCGNOH_00169 | 178288 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 534A>G | Pro178Pro |
M0045056 | HKHCGNOH_00169 | 178297 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 543A>C | Ala181Ala |
M0045057 | HKHCGNOH_00170 | 178889 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 324T>C | Ile108Ile |
M0045058 | HKHCGNOH_00170 | 178907 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 306T>C | His102His |
M0045059 | HKHCGNOH_00170 | 178991 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 222A>G | Arg74Arg |
M0045060 | HKHCGNOH_00170 | 178992 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 221G>A | Arg74Gln |
M0045061 | HKHCGNOH_00170 | 179006 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 207A>G | Glu69Glu |
M0045062 | HKHCGNOH_00170 | 179009 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 204G>C | Leu68Leu |
M0045063 | HKHCGNOH_00170 | 179014 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 199T>A | Ser67Thr |
M0045064 | HKHCGNOH_00170 | 179049 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 164C>G | Thr55Ser |
M0045065 | HKHCGNOH_00170 | 179054 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 159T>C | Ser53Ser |
M0045066 | HKHCGNOH_00170 | 179143 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 70G>A | Asp24Asn |
M0045067 | HKHCGNOH_00170 | 179162 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 51C>T | Arg17Arg |
M0045068 | HKHCGNOH_00171 | 179361 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1020A>C | Val340Val |
M0045069 | HKHCGNOH_00171 | 179415 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 966C>T | Gly322Gly |
M0045070 | HKHCGNOH_00171 | 179493 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 888G>A | Thr296Thr |
M0045071 | HKHCGNOH_00171 | 179568 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 813T>C | Phe271Phe |
M0045072 | HKHCGNOH_00171 | 179588 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 793A>T | Thr265Ser |
M0045073 | HKHCGNOH_00171 | 179589 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 792T>C | Ser264Ser |
M0045074 | HKHCGNOH_00171 | 179646 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 735A>G | Lys245Lys |
M0045075 | HKHCGNOH_00171 | 179648 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 733A>G | Lys245Glu |
M0045076 | HKHCGNOH_00171 | 179748 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 633T>C | Val211Val |
M0045077 | HKHCGNOH_00172 | 181348 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1752C>T | Asn584Asn |
M0045078 | HKHCGNOH_00172 | 181354 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1746T>A | Ala582Ala |
M0045079 | HKHCGNOH_00172 | 181381 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1719C>A | Gly573Gly |
M0045080 | HKHCGNOH_00172 | 181411 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1689T>C | Asp563Asp |
M0045081 | HKHCGNOH_00172 | 182202 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 898T>C | Leu300Leu |
M0045082 | HKHCGNOH_00172 | 182208 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 892C>A | His298Asn |
M0045083 | HKHCGNOH_00172 | 182697 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 403T>C | Leu135Leu |
M0045084 | HKHCGNOH_00172 | 182701 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 399A>T | Ile133Ile |
M0045085 | HKHCGNOH_00172 | 182704 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 396C>T | Arg132Arg |
M0045086 | HKHCGNOH_00172 | 182707 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 393T>C | Ala131Ala |
M0045087 | HKHCGNOH_00173 | 183552 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 129C>T | Asp43Asp |
M0045088 | HKHCGNOH_00174 | 183952 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 555G>A | Arg185Arg |
M0045089 | HKHCGNOH_00174 | 184447 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 60A>G | Leu20Leu |
M0045090 | HKHCGNOH_00174 | 184474 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 33A>G | Lys11Lys |
M0045091 | HKHCGNOH_00171 | 184532 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4152C>T | None |
M0045092 | HKHCGNOH_00171 | 184539 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4159A>T | None |
M0045093 | HKHCGNOH_00175 | 184917 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 109T>C | Leu37Leu |
M0045094 | HKHCGNOH_00175 | 184988 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 180A>G | Gln60Gln |
M0045095 | HKHCGNOH_00175 | 185078 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 270G>A | Glu90Glu |
M0045096 | HKHCGNOH_00175 | 185249 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 441G>A | Ser147Ser |
M0045097 | HKHCGNOH_00175 | 185301 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 493G>A | Val165Ile |
M0045098 | HKHCGNOH_00175 | 185313 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 505C>G | Pro169Ala |
M0045099 | HKHCGNOH_00175 | 185315 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 507G>T | Pro169Pro |
M0045100 | HKHCGNOH_00175 | 185316 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 508A>G | Ile170Val |
M0045101 | HKHCGNOH_00175 | 185333 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 525T>A | Ala175Ala |
M0045102 | HKHCGNOH_00209 | 216070 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 198T>C | Ala66Ala |
M0045103 | HKHCGNOH_00210 | 217507 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 162A>T | Glu54Asp |
M0045104 | HKHCGNOH_00213 | 220143 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 603T>C | Ser201Ser |
M0045105 | HKHCGNOH_00213 | 220191 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 555T>C | Val185Val |
M0045106 | HKHCGNOH_00213 | 220266 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 480A>G | Ala160Ala |
M0045107 | HKHCGNOH_00219 | 225648 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 643T>C | Leu215Leu |
M0045108 | HKHCGNOH_00213 | 225679 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4934G>A | None |
M0045109 | HKHCGNOH_00220 | 225735 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1008A>G | Glu336Glu |
M0045110 | HKHCGNOH_00220 | 226197 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 546T>C | Gly182Gly |
M0045111 | HKHCGNOH_00220 | 226240 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 503T>C | Val168Ala |
M0045112 | HKHCGNOH_00220 | 226322 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 421A>G | Ile141Val |
M0045113 | HKHCGNOH_00220 | 226362 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 381A>G | Pro127Pro |
M0045114 | HKHCGNOH_00220 | 226548 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 195T>C | Pro65Pro |
M0045115 | HKHCGNOH_00221 | 226863 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 30G>A | Lys10Lys |
M0045116 | HKHCGNOH_00221 | 226980 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 147A>G | Val49Val |
M0045117 | HKHCGNOH_00221 | 227256 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 423T>C | Cys141Cys |
M0045118 | HKHCGNOH_00221 | 227353 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 520T>G | Ser174Ala |
M0045119 | HKHCGNOH_00221 | 227632 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 799G>A | Val267Ile |
M0045120 | HKHCGNOH_00222 | 228093 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 727G>T | Ala243Ser |
M0045121 | HKHCGNOH_00222 | 228777 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 43A>C | Met15Leu |
M0045122 | HKHCGNOH_00220 | 228837 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -2095A>G | None |
M0045123 | HKHCGNOH_00220 | 228848 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -2106A>G | None |
M0045124 | HKHCGNOH_00223 | 229184 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1146A>G | Glu382Glu |
M0045125 | HKHCGNOH_00223 | 229298 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1032T>C | Thr344Thr |
M0045126 | HKHCGNOH_00223 | 229976 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 354A>G | Glu118Glu |
M0045127 | HKHCGNOH_00224 | 230649 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 222A>G | Leu74Leu |
M0045128 | HKHCGNOH_00224 | 230836 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 409G>A | Val137Met |
M0045129 | HKHCGNOH_00224 | 230838 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 411G>A | Val137Val |
M0045130 | HKHCGNOH_00224 | 230844 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 417G>A | Val139Val |
M0045131 | HKHCGNOH_00224 | 230868 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 441T>C | Asn147Asn |
M0045132 | HKHCGNOH_00224 | 230869 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 442G>A | Val148Ile |
M0045133 | HKHCGNOH_00224 | 230870 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 443T>C | Val148Ala |
M0045134 | HKHCGNOH_00224 | 230877 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 450C>G | Ile150Met |
M0045135 | HKHCGNOH_00224 | 230881 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 454G>A | Val152Ile |
M0045136 | HKHCGNOH_00224 | 230883 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 456C>T | Val152Val |
M0045137 | HKHCGNOH_00224 | 230884 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 457G>T | Ala153Ser |
M0045138 | HKHCGNOH_00224 | 230886 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 459G>A | Ala153Ala |
M0045139 | HKHCGNOH_00224 | 230892 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 465T>C | Asp155Asp |
M0045140 | HKHCGNOH_00224 | 231030 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 603C>G | Gly201Gly |
M0045141 | HKHCGNOH_00224 | 231043 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 616A>G | Ile206Val |
M0045142 | HKHCGNOH_00224 | 231048 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 621C>T | Ser207Ser |
M0045143 | HKHCGNOH_00224 | 231052 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 625A>C | Ser209Arg |
M0045144 | HKHCGNOH_00224 | 231112 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 685G>A | Val229Ile |
M0045145 | HKHCGNOH_00224 | 231216 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 789G>A | Leu263Leu |
M0045146 | HKHCGNOH_00224 | 231252 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 825T>C | Val275Val |
M0045147 | HKHCGNOH_00224 | 231267 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 840T>C | Ile280Ile |
M0045148 | HKHCGNOH_00220 | 231334 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4592T>C | None |
M0045149 | HKHCGNOH_00220 | 231355 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4613G>A | None |
M0045150 | HKHCGNOH_00220 | 231356 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4614A>G | None |
M0045151 | HKHCGNOH_00225 | 231376 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 156T>C | Val52Val |
M0045152 | HKHCGNOH_00220 | 231726 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4984A>C | None |
M0045153 | HKHCGNOH_00220 | 231727 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4985C>T | None |
M0045154 | HKHCGNOH_00220 | 231731 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4989T>C | None |
M0045155 | HKHCGNOH_00220 | 231736 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4994A>C | None |
M0045156 | HKHCGNOH_00222 | 231752 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -2933A>T | None |
M0045157 | HKHCGNOH_00226 | 231787 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 6C>T | Thr2Thr |
M0045158 | HKHCGNOH_00226 | 231796 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 15T>C | Val5Val |
M0045159 | HKHCGNOH_00226 | 231835 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 54G>T | Val18Val |
M0045160 | HKHCGNOH_00226 | 231838 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 57T>C | Val19Val |
M0045161 | HKHCGNOH_00226 | 231904 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 123T>C | Tyr41Tyr |
M0045162 | HKHCGNOH_00226 | 231935 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 154A>G | Ile52Val |
M0045163 | HKHCGNOH_00226 | 231976 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 195G>C | Arg65Arg |
M0045164 | HKHCGNOH_00226 | 232027 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 246T>C | Ser82Ser |
M0045165 | HKHCGNOH_00226 | 232271 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 490A>C | Met164Leu |
M0045166 | HKHCGNOH_00226 | 232343 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 562A>G | Ser188Gly |
M0045167 | HKHCGNOH_00226 | 232363 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 582G>C | Thr194Thr |
M0045168 | HKHCGNOH_00226 | 232366 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 585A>C | Arg195Arg |
M0045169 | HKHCGNOH_00226 | 232474 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 693C>T | Val231Val |
M0045170 | HKHCGNOH_00226 | 232596 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 815T>G | Leu272Arg |
M0045171 | HKHCGNOH_00226 | 232783 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1002C>T | Gly334Gly |
M0045172 | HKHCGNOH_00226 | 232955 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 1174A>T | Thr392Ser |
M0045173 | HKHCGNOH_00227 | 233259 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 78G>A | Lys26Lys |
M0045174 | HKHCGNOH_00227 | 233280 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 99A>G | Gly33Gly |
M0045175 | HKHCGNOH_00227 | 233289 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 108T>C | Asn36Asn |
M0045176 | HKHCGNOH_00227 | 233307 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 126A>G | Leu42Leu |
M0045177 | HKHCGNOH_00227 | 233310 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 129C>T | Arg43Arg |
M0045178 | HKHCGNOH_00227 | 233313 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 132G>A | Lys44Lys |
M0045179 | HKHCGNOH_00227 | 233331 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 150T>C | Ile50Ile |
M0045180 | HKHCGNOH_00227 | 233337 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 156T>C | His52His |
M0045181 | HKHCGNOH_00227 | 233367 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 186G>A | Leu62Leu |
M0045182 | HKHCGNOH_00227 | 233370 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 189T>C | Arg63Arg |
M0045183 | HKHCGNOH_00227 | 233373 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 192C>T | Gly64Gly |
M0045184 | HKHCGNOH_00227 | 233379 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 198C>T | Ile66Ile |
M0045185 | HKHCGNOH_00227 | 233388 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 207G>C | Ala69Ala |
M0045186 | HKHCGNOH_00227 | 233391 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 210A>T | Gly70Gly |
M0045187 | HKHCGNOH_00227 | 233394 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 213C>T | His71His |
M0045188 | HKHCGNOH_00222 | 233474 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4655A>G | None |
M0045189 | HKHCGNOH_00228 | 233719 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 561C>T | Arg187Arg |
M0045190 | HKHCGNOH_00228 | 233809 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 471T>G | Ser157Ser |
M0045191 | HKHCGNOH_00228 | 233941 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 339G>C | Leu113Leu |
M0045192 | HKHCGNOH_00228 | 233999 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 281G>C | Ser94Thr |
M0045193 | HKHCGNOH_00228 | 234087 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 193G>A | Ala65Thr |
M0045194 | HKHCGNOH_00228 | 234214 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 66T>A | Thr22Thr |
M0045195 | HKHCGNOH_00223 | 234307 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -3978G>T | None |
M0045196 | HKHCGNOH_00223 | 234309 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -3980A>C | None |
M0045197 | HKHCGNOH_00223 | 234397 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4068T>C | None |
M0045198 | HKHCGNOH_00223 | 234407 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4078A>G | None |
M0045199 | HKHCGNOH_00229 | 234755 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 297C>G | Ala99Ala |
M0045200 | HKHCGNOH_00229 | 234977 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 519C>T | Gly173Gly |
M0045201 | HKHCGNOH_00229 | 235128 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 670T>C | Leu224Leu |
M0045202 | HKHCGNOH_00230 | 235275 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 712A>G | Ser238Gly |
M0045203 | HKHCGNOH_00230 | 235279 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 708T>G | Leu236Leu |
M0045204 | HKHCGNOH_00231 | 236332 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 126T>G | Ala42Ala |
M0045205 | HKHCGNOH_00231 | 236368 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 162T>A | Val54Val |
M0045206 | HKHCGNOH_00231 | 236369 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 163T>C | Ser55Pro |
M0045207 | HKHCGNOH_00231 | 236375 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 169A>G | Lys57Glu |
M0045208 | HKHCGNOH_00231 | 236398 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 192G>T | Leu64Leu |
M0045209 | HKHCGNOH_00231 | 236409 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 203G>A | Arg68His |
M0045210 | HKHCGNOH_00231 | 236475 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 269T>G | Ile90Ser |
M0045211 | HKHCGNOH_00231 | 236476 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 270C>A | Ile90Ile |
M0045212 | HKHCGNOH_00231 | 236477 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 271G>A | Glu91Lys |
M0045213 | HKHCGNOH_00231 | 236491 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 285T>C | Gly95Gly |
M0045214 | HKHCGNOH_00231 | 236509 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 303G>A | Leu101Leu |
M0045215 | HKHCGNOH_00231 | 236537 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 331G>A | Val111Met |
M0045216 | HKHCGNOH_00231 | 236539 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 333G>T | Val111Val |
M0045217 | HKHCGNOH_00231 | 236545 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 339T>C | Ser113Ser |
M0045218 | HKHCGNOH_00231 | 236596 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 390T>A | Val130Val |
M0045219 | HKHCGNOH_00231 | 236609 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 403T>C | Leu135Leu |
M0045220 | HKHCGNOH_00231 | 236611 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 405G>A | Leu135Leu |
M0045221 | HKHCGNOH_00231 | 236638 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 432A>G | Pro144Pro |
M0045222 | HKHCGNOH_00231 | 236840 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 634C>T | Leu212Leu |
M0045223 | HKHCGNOH_00231 | 236842 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 636A>G | Leu212Leu |
M0045224 | HKHCGNOH_00231 | 236845 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 639A>C | Gln213His |
M0045225 | HKHCGNOH_00231 | 236848 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 642G>T | Glu214Asp |
M0045226 | HKHCGNOH_00231 | 236866 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 660A>T | Gly220Gly |
M0045227 | HKHCGNOH_00231 | 236884 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 678C>G | Ala226Ala |
M0045228 | HKHCGNOH_00231 | 236893 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 687A>G | Ala229Ala |
M0045229 | HKHCGNOH_00231 | 236897 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 691A>T | Ser231Cys |
M0045230 | HKHCGNOH_00231 | 236899 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 693T>C | Ser231Ser |
M0045231 | HKHCGNOH_00231 | 237343 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1137C>T | Ile379Ile |
M0045232 | HKHCGNOH_00231 | 237349 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1143T>C | Ala381Ala |
M0045233 | HKHCGNOH_00231 | 237370 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1164G>A | Pro388Pro |
M0045234 | HKHCGNOH_00231 | 237469 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1263T>C | Cys421Cys |
M0045235 | HKHCGNOH_00232 | 237922 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 451C>A | Gln151Lys |
M0045236 | HKHCGNOH_00232 | 237964 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 493C>G | Leu165Val |
M0045237 | HKHCGNOH_00233 | 238307 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 207T>C | Gly69Gly |
M0045238 | HKHCGNOH_00233 | 238433 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 333A>G | Gly111Gly |
M0045239 | HKHCGNOH_00233 | 238520 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 420T>G | Phe140Leu |
M0045240 | HKHCGNOH_00122 | 131701 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 405A>G | Leu135Leu |
M0045241 | HKHCGNOH_00001 | 611 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 243T>C | Phe81Phe |
M0045242 | HKHCGNOH_00001 | 722 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 132T>C | Leu44Leu |
M0045243 | HKHCGNOH_00001 | 842 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 12T>C | Tyr4Tyr |
M0045244 | HKHCGNOH_00002 | 1100 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 446T>A | Leu149Gln |
M0045245 | HKHCGNOH_00002 | 1225 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 321A>G | Leu107Leu |
M0045246 | HKHCGNOH_00002 | 1237 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 309A>C | Leu103Leu |
M0045247 | HKHCGNOH_00002 | 1312 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 234T>C | Arg78Arg |
M0045248 | HKHCGNOH_00002 | 1327 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 219A>T | Val73Val |
M0045249 | HKHCGNOH_00002 | 1366 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 180A>G | Glu60Glu |
M0045250 | HKHCGNOH_00002 | 1369 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 177C>T | Phe59Phe |
M0045251 | HKHCGNOH_00002 | 1442 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 104T>C | Val35Ala |
M0045252 | HKHCGNOH_00002 | 1448 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 98T>C | Val33Ala |
M0045253 | HKHCGNOH_00003 | 1575 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1515G>A | Gly505Gly |
M0045254 | HKHCGNOH_00003 | 1677 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1413G>T | Pro471Pro |
M0045255 | HKHCGNOH_00003 | 1697 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1393T>C | Leu465Leu |
M0045256 | HKHCGNOH_00003 | 1962 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1128T>C | Ile376Ile |
M0045257 | HKHCGNOH_00003 | 2061 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1029T>C | His343His |
M0045258 | HKHCGNOH_00003 | 2070 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1020G>A | Leu340Leu |
M0045259 | HKHCGNOH_00003 | 2613 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 477T>C | Asn159Asn |
M0045260 | HKHCGNOH_00003 | 2652 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 438A>G | Leu146Leu |
M0045261 | HKHCGNOH_00003 | 2654 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 436T>C | Leu146Leu |
M0045262 | HKHCGNOH_00003 | 2655 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 435G>A | Glu145Glu |
M0045263 | HKHCGNOH_00003 | 2832 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 258A>G | Ser86Ser |
M0045264 | HKHCGNOH_00003 | 2859 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 231C>T | Arg77Arg |
M0045265 | HKHCGNOH_00003 | 2940 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 150T>C | Ile50Ile |
M0045266 | HKHCGNOH_00003 | 2946 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 144A>C | Pro48Pro |
M0045267 | HKHCGNOH_00003 | 2973 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 117A>G | Ala39Ala |
M0045268 | HKHCGNOH_00004 | 3224 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 3603T>C | Tyr1201Tyr |
M0045269 | HKHCGNOH_00004 | 3251 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 3576T>A | Pro1192Pro |
M0045270 | HKHCGNOH_00004 | 3266 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 3561G>C | Val1187Val |
M0045271 | HKHCGNOH_00004 | 3311 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 3516T>A | Pro1172Pro |
M0045272 | HKHCGNOH_00004 | 3314 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 3513T>C | Ile1171Ile |
M0045273 | HKHCGNOH_00004 | 3317 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 3510C>T | Asn1170Asn |
M0045274 | HKHCGNOH_00004 | 3404 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 3423T>C | Asn1141Asn |
M0045275 | HKHCGNOH_00004 | 3485 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 3342A>G | Gly1114Gly |
M0045276 | HKHCGNOH_00004 | 3659 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 3168G>A | Glu1056Glu |
M0045277 | HKHCGNOH_00004 | 3668 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 3159T>C | Ala1053Ala |
M0045278 | HKHCGNOH_00004 | 4322 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 2505C>A | Asp835Glu |
M0045279 | HKHCGNOH_00004 | 4340 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2487C>T | Ile829Ile |
M0045280 | HKHCGNOH_00004 | 4427 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 2400A>C | Ser800Ser |
M0045281 | HKHCGNOH_00004 | 4532 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2295T>C | Leu765Leu |
M0045282 | HKHCGNOH_00004 | 4553 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 2274T>C | Thr758Thr |
M0045283 | HKHCGNOH_00004 | 4588 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 2239A>G | Thr747Ala |
M0045284 | HKHCGNOH_00004 | 4685 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2142T>G | Ser714Ser |
M0045285 | HKHCGNOH_00004 | 4709 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 2118A>G | Pro706Pro |
M0045286 | HKHCGNOH_00004 | 4818 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 2009G>A | Arg670Gln |
M0045287 | HKHCGNOH_00004 | 4892 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1935T>C | Phe645Phe |
M0045288 | HKHCGNOH_00004 | 4945 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1882T>C | Leu628Leu |
M0045289 | HKHCGNOH_00004 | 4985 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1842T>C | His614His |
M0045290 | HKHCGNOH_00004 | 5252 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1575T>C | Phe525Phe |
M0045291 | HKHCGNOH_00004 | 5675 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1152G>A | Glu384Glu |
M0045292 | HKHCGNOH_00004 | 5681 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 1146A>C | Glu382Asp |
M0045293 | HKHCGNOH_00004 | 5765 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1062T>C | Gly354Gly |
M0045294 | HKHCGNOH_00004 | 6263 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 564A>C | Gly188Gly |
M0045295 | HKHCGNOH_00004 | 6266 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 561A>G | Ala187Ala |
M0045296 | HKHCGNOH_00004 | 6311 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 516A>G | Ala172Ala |
M0045297 | HKHCGNOH_00004 | 6443 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 384A>G | Gln128Gln |
M0045298 | HKHCGNOH_00004 | 6448 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 379G>A | Ala127Thr |
M0045299 | HKHCGNOH_00004 | 6459 | 5 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 368A>G | His123Arg |
M0045300 | HKHCGNOH_00004 | 6527 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 300A>C | Ser100Ser |
M0045301 | HKHCGNOH_00004 | 6773 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 54C>T | Phe18Phe |
M0045302 | HKHCGNOH_00004 | 6779 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 48A>G | Glu16Glu |
M0045303 | HKHCGNOH_00005 | 6909 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1362C>T | Tyr454Tyr |
M0045304 | HKHCGNOH_00005 | 6972 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1299A>G | Val433Val |
M0045305 | HKHCGNOH_00005 | 7047 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1224T>C | Ala408Ala |
M0045306 | HKHCGNOH_00005 | 7287 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 984G>C | Val328Val |
M0045307 | HKHCGNOH_00006 | 8455 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 578T>C | Val193Ala |
M0045308 | HKHCGNOH_00006 | 8562 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 471T>C | Ala157Ala |
M0045309 | HKHCGNOH_00006 | 8589 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 444T>A | Ala148Ala |
M0045310 | HKHCGNOH_00006 | 8682 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 351A>G | Ala117Ala |
M0045311 | HKHCGNOH_00006 | 8707 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 326G>A | Gly109Asp |
M0045312 | HKHCGNOH_00006 | 8748 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 285A>G | Glu95Glu |
M0045313 | HKHCGNOH_00006 | 8910 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 123A>C | Ala41Ala |
M0045314 | HKHCGNOH_00007 | 9630 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 477T>C | Tyr159Tyr |
M0045315 | HKHCGNOH_00007 | 10320 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1167A>T | Gly389Gly |
M0045316 | HKHCGNOH_00007 | 10386 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1233T>G | Leu411Leu |
M0045317 | HKHCGNOH_00007 | 10413 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1260G>A | Glu420Glu |
M0045318 | HKHCGNOH_00008 | 10752 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 693C>G | Ala231Ala |
M0045319 | HKHCGNOH_00008 | 10755 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 690G>A | Ala230Ala |
M0045320 | HKHCGNOH_00009 | 12522 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 825A>G | Lys275Lys |
M0045321 | HKHCGNOH_00011 | 13376 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 189T>C | His63His |
M0045322 | HKHCGNOH_00012 | 14369 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 144A>T | Gly48Gly |
M0045323 | HKHCGNOH_00012 | 15005 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 780C>A | Gly260Gly |
M0045324 | HKHCGNOH_00012 | 15251 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1026A>G | Pro342Pro |
M0045325 | HKHCGNOH_00027 | 27322 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 567G>T | Ala189Ala |
M0045326 | HKHCGNOH_00028 | 28465 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 483T>C | Phe161Phe |
M0045327 | HKHCGNOH_00028 | 28466 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 484A>G | Ile162Val |
M0045328 | HKHCGNOH_00029 | 29135 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 229A>G | Ile77Val |
M0045329 | HKHCGNOH_00029 | 29908 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1002T>C | Gly334Gly |
M0045330 | HKHCGNOH_00029 | 29932 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1026C>G | Gly342Gly |
M0045331 | HKHCGNOH_00029 | 29953 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1047T>C | Phe349Phe |
M0045332 | HKHCGNOH_00029 | 30046 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1140T>G | Thr380Thr |
M0045333 | HKHCGNOH_00029 | 30082 | 5 | Skin | 0.10 | protein_coding | synonymous_variant | LOW | 1176T>C | Tyr392Tyr |
M0045334 | HKHCGNOH_00029 | 30130 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1224G>C | Arg408Arg |
M0045335 | HKHCGNOH_00029 | 30148 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1242T>C | Arg414Arg |
M0045336 | HKHCGNOH_00111 | 120548 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 828C>T | Tyr276Tyr |
M0045337 | HKHCGNOH_00111 | 121205 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1485A>G | Lys495Lys |
M0045338 | HKHCGNOH_00001 | 587 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 267G>A | Val89Val |
M0045339 | HKHCGNOH_00002 | 1309 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 237C>T | Asp79Asp |
M0045340 | HKHCGNOH_00003 | 2190 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 900C>T | Leu300Leu |
M0045341 | HKHCGNOH_00003 | 2481 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 609C>T | Arg203Arg |
M0045342 | HKHCGNOH_00003 | 2487 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 603C>T | Tyr201Tyr |
M0045343 | HKHCGNOH_00003 | 2616 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 474C>T | Arg158Arg |
M0045344 | HKHCGNOH_00004 | 3602 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 3225C>A | Asp1075Glu |
M0045345 | HKHCGNOH_00004 | 4784 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 2043G>T | Glu681Asp |
M0045346 | HKHCGNOH_00004 | 4787 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2040A>C | Ala680Ala |
M0045347 | HKHCGNOH_00004 | 4790 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 2037C>G | Pro679Pro |
M0045348 | HKHCGNOH_00004 | 4808 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 2019C>G | Asp673Glu |
M0045349 | HKHCGNOH_00004 | 4821 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 2006A>G | Lys669Arg |
M0045350 | HKHCGNOH_00004 | 4877 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1950G>A | Glu650Glu |
M0045351 | HKHCGNOH_00004 | 4937 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1890A>G | Ser630Ser |
M0045352 | HKHCGNOH_00004 | 4940 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1887C>G | Leu629Leu |
M0045353 | HKHCGNOH_00004 | 5123 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1704T>C | Gly568Gly |
M0045354 | HKHCGNOH_00004 | 5364 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 1463G>A | Gly488Asp |
M0045355 | HKHCGNOH_00004 | 5443 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1384C>T | Leu462Leu |
M0045356 | HKHCGNOH_00004 | 6449 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 378G>T | Leu126Leu |
M0045357 | HKHCGNOH_00004 | 6626 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 201C>T | Gly67Gly |
M0045358 | HKHCGNOH_00005 | 6996 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1275T>G | Ser425Ser |
M0045359 | HKHCGNOH_00029 | 29794 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 888G>T | Arg296Arg |
M0045360 | HKHCGNOH_00032 | 32198 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 336A>G | Gly112Gly |
M0045361 | HKHCGNOH_00032 | 32594 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 732G>C | Val244Val |
M0045362 | HKHCGNOH_00032 | 32742 | 4 | Skin | 0.08 | protein_coding | missense_variant | MODERATE | 880A>G | Thr294Ala |
M0045363 | HKHCGNOH_00033 | 33051 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1086G>A | Arg362Arg |
M0045364 | HKHCGNOH_00035 | 35330 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 1404C>T | Leu468Leu |
M0045365 | HKHCGNOH_00035 | 35765 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 969T>C | Arg323Arg |
M0045366 | HKHCGNOH_00035 | 36305 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 429A>G | Pro143Pro |
M0045367 | HKHCGNOH_00036 | 36937 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 645T>C | Phe215Phe |
M0045368 | HKHCGNOH_00037 | 37731 | 4 | Skin | 0.08 | protein_coding | synonymous_variant | LOW | 792T>G | Leu264Leu |
M0045369 | HKHCGNOH_00037 | 37827 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 696A>G | Leu232Leu |
M0045370 | HKHCGNOH_00038 | 38997 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1158A>G | Gln386Gln |
M0045371 | HKHCGNOH_00038 | 39846 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 309C>T | Ser103Ser |
M0045372 | HKHCGNOH_00038 | 39852 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 303A>C | Thr101Thr |
M0045373 | HKHCGNOH_00038 | 40095 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 60A>G | Ser20Ser |
M0045374 | HKHCGNOH_00039 | 40729 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 595C>T | Leu199Leu |
M0045375 | HKHCGNOH_00039 | 41066 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 258T>C | Phe86Phe |
M0045376 | HKHCGNOH_00041 | 43275 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1002T>C | Gly334Gly |
M0045377 | HKHCGNOH_00041 | 43398 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 879C>T | Asp293Asp |
M0045378 | HKHCGNOH_00041 | 43539 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 738T>C | Gly246Gly |
M0045379 | HKHCGNOH_00041 | 43634 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 643C>G | Gln215Glu |
M0045380 | HKHCGNOH_00041 | 43642 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 635A>G | Gln212Arg |
M0045381 | HKHCGNOH_00041 | 43683 | 3 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 594C>A | Asn198Lys |
M0045382 | HKHCGNOH_00041 | 43689 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 588T>C | Arg196Arg |
M0045383 | HKHCGNOH_00041 | 43881 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 396T>C | Thr132Thr |
M0045384 | HKHCGNOH_00041 | 43956 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 321A>G | Arg107Arg |
M0045385 | HKHCGNOH_00045 | 53110 | 3 | Skin | 0.06 | protein_coding | upstream_gene_variant | MODIFIER | -4685G>A | None |
M0045386 | HKHCGNOH_00051 | 53598 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 417T>C | Pro139Pro |
M0045387 | HKHCGNOH_00052 | 54331 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 75C>T | Val25Val |
M0045388 | HKHCGNOH_00057 | 59042 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1152T>C | Arg384Arg |
M0045389 | HKHCGNOH_00057 | 59051 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1143G>A | Glu381Glu |
M0045390 | HKHCGNOH_00057 | 59057 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1137T>C | Thr379Thr |
M0045391 | HKHCGNOH_00030 | 30306 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 117C>G | Pro39Pro |
M0045392 | HKHCGNOH_00030 | 30462 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 273T>C | Arg91Arg |
M0045393 | HKHCGNOH_00030 | 30822 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 633G>A | Ala211Ala |
M0045394 | HKHCGNOH_00035 | 36266 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 468T>C | Gly156Gly |
M0045395 | HKHCGNOH_00035 | 36269 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 465T>C | Ser155Ser |
M0045396 | HKHCGNOH_00056 | 58564 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 219G>A | Pro73Pro |
M0045397 | HKHCGNOH_00057 | 58817 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 1377G>A | Val459Val |
M0045398 | HKHCGNOH_00172 | 180730 | 3 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 2370C>T | Tyr790Tyr |
Gene Name | vf_gene_id | vf_name | identity | evalue | qstart | qend | query_coverage | subject_coverage | vf_category | gene_description | condition |
---|---|---|---|---|---|---|---|---|---|---|---|
HKHCGNOH_00064 | VFG000574 | MgtB | 88.1 | 0 | 1 | 910 | 1.0 | 1.0022 | Nutritional/Metabolic factor | Mg2+ transport protein | experiment |
HKHCGNOH_00110 | VFG002069 | HSI-1 | 71.3 | 1.3e-65 | 1 | 167 | 0.9598 | 0.9709 | Effector delivery system | type VI secretion system tubule-forming protein VipA | experiment |
HKHCGNOH_00111 | VFG041098 | SCI (Salmonella centrisome island)/SPI-6 T6SS | 72.6 | 2.3e-221 | 11 | 499 | 0.98 | 0.9741 | Effector delivery system | EvpB family type VI secretion protein | experiment |
HKHCGNOH_00064 | VFG018402 | MgtB | 88.6 | 0 | 1 | 910 | 1.0 | 1.0022 | Nutritional/Metabolic factor | Mg2+ transport protein | prediction |
HKHCGNOH_00110 | VFG015445 | HSI-1 | 73 | 3.2e-65 | 6 | 168 | 0.9368 | 0.9532 | Effector delivery system | type VI secretion system tubule-forming protein VipA | prediction |
HKHCGNOH_00111 | VFG041203 | CTS1 | 74.4 | 2e-229 | 1 | 495 | 0.992 | 0.992 | Effector delivery system | type VI secretion system contractile sheath large subunit | prediction |
Gene Name | compound | identity | evalue | qstart | qend | query_coverage | subject_coverage | group |
---|---|---|---|---|---|---|---|---|
HKHCGNOH_00007 | Acriflavine [class: Acridine], 4,6-diamidino-2-phenylindole (DAPI) [class: Diamindine], Hoechst 33342 [class: Bisbenzimide], Tetraphenylphosphonium (TPP) [class: Quaternary Ammonium Compounds (QACs)], Methyl Viologen [class: Paraquat], Ethidium Bromide [class: Phenanthridine], Cetrimide (CTM) [class: Quaternary Ammonium Compounds (QACs)] | 88.3 | 3.4e-228 | 1 | 496 | 1.0000 | 0.9940 | experiment |
HKHCGNOH_00016 | Methyl Viologen [class: Paraquat] | 77.7 | 1.9e-119 | 1 | 273 | 1.0000 | 0.9317 | experiment |
HKHCGNOH_00257 | Cyclohexane [class: Cycloalkane], Diphenyl Ether [class: Phenyl], n-hexane [class: Alkane] | 80.6 | 8.1e-66 | 1 | 144 | 1.0000 | 1.0000 | experiment |
HKHCGNOH_00258 | Cyclohexane [class: Cycloalkane], Diphenyl Ether [class: Phenyl], n-hexane [class: Alkane] | 91.2 | 1.4e-64 | 1 | 125 | 0.9843 | 0.9843 | experiment |
HKHCGNOH_00307 | Sodium Dodecyl Sulfate (SDS) [class: Organo-sulfate], Sodium Deoxycholate (SDC) [class: Acid], Benzylkonium Chloride (BAC) [class: Quaternary Ammonium Compounds (QACs)], Chlorhexidine [class: Biguanides], Triclosan [class: Phenolic compounds], Methyl Viologen [class: Paraquat], Hydrogen Peroxide (H2O2) [class: Peroxides] | 92.7 | 2.7e-53 | 1 | 109 | 1.0000 | 1.0000 | experiment |
HKHCGNOH_00308 | Sodium Dodecyl Sulfate (SDS) [class: Organo-sulfate], Sodium Deoxycholate (SDC) [class: Acid], Benzylkonium Chloride (BAC) [class: Quaternary Ammonium Compounds (QACs)], Chlorhexidine [class: Biguanides], Triclosan [class: Phenolic compounds], Methyl Viologen [class: Paraquat], Hydrogen Peroxide (H2O2) [class: Peroxides] | 85.8 | 3.1e-50 | 1 | 120 | 1.0000 | 1.0000 | experiment |
HKHCGNOH_00404 | Chlorhexidine [class: Biguanides] | 91.2 | 1.8e-105 | 1 | 193 | 1.0000 | 0.8616 | experiment |
HKHCGNOH_00404 | Selenium (Se), Hydrogen Peroxide (H2O2) [class: Peroxides] | 91.2 | 1.8e-105 | 1 | 193 | 1.0000 | 0.8616 | experiment |
HKHCGNOH_00007 | Acriflavine [class: Acridine], 4,6-diamidino-2-phenylindole (DAPI) [class: Diamindine], Hoechst 33342 [class: Bisbenzimide], Tetraphenylphosphonium (TPP) [class: Quaternary Ammonium Compounds (QACs)], Methyl Viologen [class: Paraquat], Ethidium Bromide [class: Phenanthridine], Cetrimide (CTM) [class: Quaternary Ammonium Compounds (QACs)] | 99.8 | 4.7e-255 | 1 | 496 | 1.0000 | 1.0000 | prediction |
HKHCGNOH_00016 | Methyl Viologen [class: Paraquat] | 79.9 | 5.4e-120 | 1 | 273 | 1.0000 | 0.9964 | prediction |
HKHCGNOH_00198 | Hydrogen Peroxide (H2O2) [class: Peroxides] | 100 | 3.7e-74 | 1 | 134 | 1.0000 | 1.0000 | prediction |
HKHCGNOH_00257 | Cyclohexane [class: Cycloalkane], Diphenyl Ether [class: Phenyl], n-hexane [class: Alkane] | 99.3 | 7.1e-79 | 1 | 144 | 1.0000 | 1.0000 | prediction |
HKHCGNOH_00258 | Cyclohexane [class: Cycloalkane], Diphenyl Ether [class: Phenyl], n-hexane [class: Alkane] | 100 | 6.9e-70 | 1 | 127 | 1.0000 | 1.0000 | prediction |
HKHCGNOH_00307 | Sodium Deoxycholate (SDC) [class: Acid], Sodium Dodecyl Sulfate (SDS) [class: Organo-sulfate], Spermidine [class: Polyamines] | 100 | 1.6e-54 | 1 | 109 | 1.0000 | 1.0000 | prediction |
HKHCGNOH_00308 | Spermidine [class: Polyamines] | 100 | 2.7e-55 | 1 | 120 | 1.0000 | 1.0000 | prediction |
HKHCGNOH_00404 | Hydrogen Peroxide (H2O2) [class: Peroxides] | 100 | 1.4e-111 | 1 | 193 | 1.0000 | 1.0000 | prediction |
Gene Name | aro_accession | identity | evalue | qstart | qend | query_coverage | subject_coverage | drug_class | amr_gene_family | resistance_mechanism |
---|---|---|---|---|---|---|---|---|---|---|
HKHCGNOH_00257 | ARO:3003378 | 80.6 | 2.74e-83 | 1 | 144 | 1.0000 | 1.0000 | fluoroquinolone antibiotic | resistance-nodulation-cell division (RND) antibiotic efflux pump | antibiotic target alteration |
HKHCGNOH_00258 | ARO:3000263 | 91.2 | 2.61e-82 | 1 | 125 | 0.9843 | 0.9843 | fluoroquinolone antibiotic | resistance-nodulation-cell division (RND) antibiotic efflux pump | antibiotic efflux |
HKHCGNOH_00307 | ARO:3004583 | 92.7 | 2.61e-69 | 1 | 109 | 1.0000 | 1.0000 | macrolide antibiotic | small multidrug resistance (SMR) antibiotic efflux pump | antibiotic efflux |
HKHCGNOH_00308 | ARO:3004580 | 85.8 | 7.61e-65 | 1 | 120 | 1.0000 | 1.0000 | macrolide antibiotic | small multidrug resistance (SMR) antibiotic efflux pump | antibiotic efflux |
Gene Name | phi_molconn_id | host gene_name | identity | evalue | qstart | qend | query_coverage | subject_coverage | host_descripton | disease_name | function | phenotype_of_mutant |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HKHCGNOH_00001 | PHI:10519 | narV | 82.3 | 1.5e-110 | 1 | 226 | 1.0000 | 1.0000 | rodents | urinary tract infection | respiratory nitrate reductase 2 gamma chain | reduced virulence |
HKHCGNOH_00002 | PHI:10518 | narW | 77.5 | 2.5e-100 | 1 | 231 | 1.0000 | 1.0000 | rodents | urinary tract infection | probable nitrate reductase molybdenum cofactor assembly chaperone | reduced virulence |
HKHCGNOH_00003 | PHI:10517 | narY | 88.7 | 1.2e-291 | 1 | 514 | 1.0000 | 1.0000 | rodents | urinary tract infection | respiratory nitrate reductase 2 beta chain | reduced virulence |
HKHCGNOH_00004 | PHI:10516 | narZ | 87.6 | 0 | 1 | 1246 | 1.0000 | 1.0000 | rodents | urinary tract infection | respiratory nitrate reductase 2 alpha chain | reduced virulence |
HKHCGNOH_00005 | PHI:123381 | narU | 82.2 | 1.3e-220 | 1 | 461 | 0.9978 | 0.9978 | rodents | salmonellosis | nitrate/nitrite transporter | unaffected pathogenicity |
HKHCGNOH_00017 | PHI:10997 | fdnG | 94.4 | 2.3e-107 | 1 | 195 | 1.0000 | 0.9833 | rodents | infection | formate dehydrogenase, nitrate-inducible, major subunit | unaffected pathogenicity |
HKHCGNOH_00018 | PHI:10997 | fdnG | 90.9 | 0 | 1 | 803 | 1.0000 | 0.9833 | rodents | infection | formate dehydrogenase, nitrate-inducible, major subunit | unaffected pathogenicity |
HKHCGNOH_00064 | PHI:7573 | MgtB | 73.5 | 0 | 5 | 909 | 0.9945 | 0.9967 | moths | zoonotic infection | magnesium ion transporter | reduced virulence |
HKHCGNOH_00069 | PHI:11381 | katG | 83.2 | 0 | 1 | 725 | 1.0000 | 0.9986 | moths | salmonellosis | catalase | reduced virulence |
HKHCGNOH_00105 | PHI:7087 | tssK-1 | 72.3 | 3.2e-197 | 1 | 444 | 0.9933 | 0.9933 | eudicots | fire blight | T6SS-1 component | reduced virulence |
HKHCGNOH_00106 | PHI:7103 | tssL-1 | 76.8 | 1.2e-182 | 1 | 409 | 1.0000 | 1.0000 | eudicots | fire blight | T6SS-1 component | unaffected pathogenicity |
HKHCGNOH_00107 | PHI:7090 | tssM-1 | 73.7 | 0 | 1 | 1203 | 1.0000 | 1.0000 | eudicots | fire blight | T6SS-1 component | reduced virulence |
HKHCGNOH_00109 | PHI:7097 | tssA-1 | 72 | 4.7e-132 | 1 | 336 | 1.0000 | 0.9941 | eudicots | fire blight | T6SS-1 component | unaffected pathogenicity |
HKHCGNOH_00110 | PHI:7098 | tssB-1 | 84.1 | 9e-79 | 1 | 169 | 0.9713 | 0.9551 | eudicots | fire blight | T6SS-1 component | unaffected pathogenicity |
HKHCGNOH_00111 | PHI:7099 | tssC-1 | 91 | 1.5e-272 | 1 | 499 | 1.0000 | 1.0000 | eudicots | fire blight | T6SS-1 component | unaffected pathogenicity |
HKHCGNOH_00112 | PHI:3408 | TssD | 83.1 | 1e-76 | 1 | 160 | 1.0000 | 1.0000 | monocots | None | virulence mechanism | unaffected pathogenicity |
HKHCGNOH_00117 | PHI:7399 | EAMY _3011 | 72.7 | 2.2e-113 | 1 | 264 | 1.0000 | 1.0000 | eudicots | fire blight | type VI secretion system protein | unaffected pathogenicity |
HKHCGNOH_00120 | PHI:7100 | tssE-1 | 72.3 | 9.4e-74 | 11 | 187 | 0.9465 | 0.9415 | eudicots | fire blight | T6SS-1 component | unaffected pathogenicity |
HKHCGNOH_00121 | PHI:7101 | tssF-1 | 73.9 | 8e-279 | 1 | 623 | 1.0000 | 1.0000 | eudicots | fire blight | T6SS-1 component | unaffected pathogenicity |
HKHCGNOH_00123 | PHI:7106 | clpV-1 | 82.7 | 0 | 1 | 870 | 1.0000 | 1.0000 | eudicots | fire blight | T6SS-1 component | unaffected pathogenicity |
HKHCGNOH_00140 | PHI:7523 | ykfE (VK055_1949) | 87.8 | 3.6e-68 | 1 | 147 | 0.9866 | 0.8400 | rodents | pneumonia | inhibitor of vertebrate C-type lysozyme | unaffected pathogenicity |
HKHCGNOH_00208 | PHI:10387 | SEN1538 | 90 | 1.9e-23 | 1 | 60 | 0.9836 | 1.0000 | rodents | salmonellosis | conserved hypothetical protein | reduced virulence |
HKHCGNOH_00258 | PHI:5369 | MarA | 91.9 | 1.7e-63 | 1 | 124 | 0.9764 | 0.9764 | rodents | bacteremia | transcriptional regulator | reduced virulence |
HKHCGNOH_00307 | PHI:8967 | mdtI | 90.8 | 1.7e-51 | 1 | 109 | 1.0000 | 1.0000 | rodents | pneumonia | multidrug resistance protein | reduced virulence |
HKHCGNOH_00308 | PHI:8966 | mdtJ | 85.8 | 3.9e-49 | 1 | 120 | 1.0000 | 1.0000 | rodents | pneumonia | multidrug transporter subunit | reduced virulence |
HKHCGNOH_00326 | PHI:10046 | fumA | 87.7 | 1.9e-284 | 1 | 543 | 0.9873 | 0.9362 | rodents | salmonellosis | fumarate hydratase class I, aerobic | reduced virulence |
HKHCGNOH_00342 | PHI:4876 | FNR | 97.2 | 6.1e-137 | 1 | 250 | 1.0000 | 1.0000 | rodents | infection | global regulator | reduced virulence |
HKHCGNOH_00347 | PHI:3780 | sssB | 84.2 | 3e-149 | 1 | 316 | 1.0000 | 1.0000 | rodents | self-limiting gastroenteritis; typhoid-like disease (mice) | secreted effector protein | effector (plant avirulence determinant) |
HKHCGNOH_00351 | PHI:3466 | RstA | 80.3 | 3.3e-108 | 1 | 237 | 0.9958 | 0.9522 | birds | colibacillosis | part of a two component regulatory system | reduced virulence |
HKHCGNOH_00355 | PHI:10048 | fumC | 88.8 | 6.7e-238 | 1 | 463 | 0.9936 | 0.9914 | rodents | salmonellosis | fumarate hydratase class II | reduced virulence |
HKHCGNOH_00356 | PHI:10046 | fumA | 89.5 | 8.6e-293 | 1 | 543 | 0.9909 | 0.9362 | rodents | salmonellosis | fumarate hydratase class I, aerobic | reduced virulence |
HKHCGNOH_00360 | PHI:4631 | pafP | 90.6 | 1.3e-277 | 1 | 530 | 1.0000 | 1.0000 | rodents | urinary tract infection | transcription regulator | reduced virulence |
HKHCGNOH_00364 | PHI:7643 | yedF | 94.8 | 5.3e-39 | 1 | 77 | 1.0000 | 1.0000 | primates | salmonellosis | hypothetical transcription factor | reduced virulence |
HKHCGNOH_00372 | PHI:4179 | expI | 75.7 | 1.3e-28 | 1 | 70 | 0.9859 | 0.9859 | eudicots | soft rot | synthesis and perception of signaling molecules | reduced virulence |
HKHCGNOH_00386 | PHI:2646 | MliC | 72.9 | 2.9e-43 | 1 | 107 | 1.0000 | 1.0000 | birds | colibacillosis; cellulitis; swollen head syndrome | lysozyme inhibitor | reduced virulence |
HKHCGNOH_00390 | PHI:2678 | slyA | 82.6 | 2e-63 | 1 | 144 | 1.0000 | 1.0000 | rodents | food poisoning | regulators of systemic infection | reduced virulence |
HKHCGNOH_00394 | PHI:9809 | SodCII | 74.1 | 3.1e-71 | 1 | 174 | 1.0000 | 1.0000 | rodents | salmonellosis | superoxide dismutase [Cu-Zn] 2 | reduced virulence |
HKHCGNOH_00404 | PHI:11377 | sodB | 91.7 | 2.4e-104 | 1 | 193 | 1.0000 | 1.0000 | moths | salmonellosis | cytoplasmic superoxide dismutase | increased virulence (hypervirulence) |
Gene Name | cazy_id | identity | evalue | qstart | qend | query_coverage | subject_coverage |
---|---|---|---|---|---|---|---|
HKHCGNOH_00156 | ATY02590.1|CE4 | 100 | 4.22e-245 | 1 | 310 | 1 | 1 |
HKHCGNOH_00202 | QUS05576.1|GH13_16 | 99.3 | 0 | 1 | 541 | 1 | 1 |
HKHCGNOH_00251 | QXC63708.1|GH33 | 100 | 9.4e-302 | 1 | 388 | 1 | 1 |
HKHCGNOH_00274 | UUX43276.1|GH2 | 99.3 | 0 | 1 | 1035 | 1 | 1 |
HKHCGNOH_00371 | QUS05418.1|GH1 | 99.8 | 0 | 1 | 456 | 1 | 1 |
Gene Name | tcid | identity | evalue | qstart | qend | query_coverage | subject_coverage | class_field | class_term | subclass | subclass_term | family | family_term |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HKHCGNOH_00004 | 5.A.3.1.2 | 87.6 | 0 | 1 | 1246 | 1.0000 | 1.0000 | 5 | Transmembrane Electron Carriers | 5.A | Transmembrane 2-electron transfer carriers | 5.A.3 | The Prokaryotic Molybdopterin-containing Oxidoreductase (PMO) Family |
HKHCGNOH_00005 | 2.A.1.8.10 | 79.4 | 1.5e-213 | 1 | 461 | 0.9978 | 0.9978 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.1 | The Major Facilitator Superfamily (MFS) |
HKHCGNOH_00007 | 2.A.1.3.14 | 73.7 | 2.6e-187 | 1 | 490 | 0.9879 | 0.9899 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.1 | The Major Facilitator Superfamily (MFS) |
HKHCGNOH_00016 | 2.A.7.17.2 | 79.5 | 2.8e-119 | 1 | 273 | 1.0000 | 0.9317 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.7 | The Drug/Metabolite Transporter (DMT) Superfamily |
HKHCGNOH_00018 | 5.A.3.2.1 | 90.9 | 0 | 1 | 803 | 1.0000 | 0.7911 | 5 | Transmembrane Electron Carriers | 5.A | Transmembrane 2-electron transfer carriers | 5.A.3 | The Prokaryotic Molybdopterin-containing Oxidoreductase (PMO) Family |
HKHCGNOH_00032 | 2.A.1.2.14 | 73.5 | 2.7e-155 | 1 | 381 | 0.9695 | 0.9670 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.1 | The Major Facilitator Superfamily (MFS) |
HKHCGNOH_00054 | 1.A.46.2.8 | 90.5 | 1.3e-160 | 1 | 305 | 1.0000 | 1.0000 | 1 | Channels/Pores | 1.A | α-Type Channels | 1.A.46 | The Anion Channel-forming Bestrophin (Bestrophin) Family |
HKHCGNOH_00072 | 2.A.7.21.5 | 81 | 1.1e-58 | 1 | 142 | 0.9861 | 0.9404 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.7 | The Drug/Metabolite Transporter (DMT) Superfamily |
HKHCGNOH_00073 | 2.A.7.21.5 | 78.3 | 1.9e-57 | 5 | 147 | 0.8563 | 0.9470 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.7 | The Drug/Metabolite Transporter (DMT) Superfamily |
HKHCGNOH_00074 | 2.A.76.1.10 | 81.4 | 2.7e-93 | 1 | 210 | 1.0000 | 1.0000 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.76 | The Resistance to Homoserine/Threonine (RhtB) Family |
HKHCGNOH_00191 | 9.B.12.2.1 | 94.2 | 2.5e-24 | 1 | 52 | 1.0000 | 1.0000 | 9 | Incompletely Characterized Transport Systems | 9.B | Putative transport proteins | 9.B.12 | The Sensitivity to Sodium or Salt Stress-induced Hydrophobic Peptide (Sna) Family |
HKHCGNOH_00255 | 2.A.1.2.15 | 80.7 | 2.5e-172 | 1 | 394 | 0.9875 | 0.9949 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.1 | The Major Facilitator Superfamily (MFS) |
HKHCGNOH_00256 | 2.A.95.1.1 | 86 | 3.1e-100 | 1 | 221 | 0.9955 | 1.0000 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.95 | The 6 TMS Neutral Amino Acid Transporter (NAAT) Family |
HKHCGNOH_00260 | 2.A.7.3.2 | 82.8 | 4e-130 | 1 | 290 | 0.9539 | 0.9699 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.7 | The Drug/Metabolite Transporter (DMT) Superfamily |
HKHCGNOH_00261 | 2.A.1.2.55 | 71.2 | 7.1e-156 | 1 | 389 | 0.9873 | 0.9848 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.1 | The Major Facilitator Superfamily (MFS) |
HKHCGNOH_00283 | 2.A.1.6.9 | 81.9 | 2.2e-193 | 29 | 453 | 0.9239 | 0.9859 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.1 | The Major Facilitator Superfamily (MFS) |
HKHCGNOH_00287 | 2.A.7.26.1 | 81.3 | 8.8e-48 | 1 | 107 | 0.9907 | 0.9907 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.7 | The Drug/Metabolite Transporter (DMT) Superfamily |
HKHCGNOH_00292 | 5.A.3.3.1 | 86.6 | 0 | 1 | 811 | 1.0000 | 1.0012 | 5 | Transmembrane Electron Carriers | 5.A | Transmembrane 2-electron transfer carriers | 5.A.3 | The Prokaryotic Molybdopterin-containing Oxidoreductase (PMO) Family |
HKHCGNOH_00293 | 5.A.3.3.2 | 89.3 | 4.4e-117 | 1 | 205 | 1.0000 | 0.7143 | 5 | Transmembrane Electron Carriers | 5.A | Transmembrane 2-electron transfer carriers | 5.A.3 | The Prokaryotic Molybdopterin-containing Oxidoreductase (PMO) Family |
HKHCGNOH_00296 | 2.A.49.5.4 | 76.1 | 2.4e-173 | 13 | 430 | 0.9698 | 1.0000 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.49 | The Chloride Carrier/Channel (ClC) Family |
HKHCGNOH_00300 | 2.A.1.36.1 | 85.8 | 3e-197 | 1 | 415 | 0.9976 | 0.9952 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.1 | The Major Facilitator Superfamily (MFS) |
HKHCGNOH_00307 | 2.A.7.1.9 | 85.3 | 6.1e-49 | 1 | 109 | 1.0000 | 0.9008 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.7 | The Drug/Metabolite Transporter (DMT) Superfamily |
HKHCGNOH_00308 | 2.A.7.1.9 | 78.8 | 1.4e-41 | 3 | 120 | 0.9833 | 0.9752 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.7 | The Drug/Metabolite Transporter (DMT) Superfamily |
HKHCGNOH_00309 | 2.A.86.1.4 | 82 | 1.9e-141 | 1 | 344 | 1.0000 | 1.0000 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.86 | The Autoinducer-2 Exporter (AI-2E) Family (Formerly the PerM Family, TC #9.B.22) |
HKHCGNOH_00315 | 2.A.69.3.3 | 100 | 6.2e-166 | 1 | 319 | 1.0000 | 1.0000 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.69 | The Auxin Efflux Carrier (AEC) Family |
HKHCGNOH_00339 | 2.A.68.1.1 | 87.8 | 5.2e-252 | 1 | 507 | 0.9980 | 0.9980 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.68 | The p-Aminobenzoyl-glutamate Transporter (AbgT) Family |
HKHCGNOH_00345 | 3.D.2.1.1 | 91.8 | 1.9e-237 | 1 | 462 | 1.0000 | 1.0000 | 3 | Primary Active Transporters | 3.D | Oxidoreduction-driven transporters | 3.D.2 | The Proton-translocating Transhydrogenase (PTH) Family |
HKHCGNOH_00346 | 3.D.2.1.1 | 89 | 5.6e-254 | 1 | 509 | 1.0000 | 1.1039 | 3 | Primary Active Transporters | 3.D | Oxidoreduction-driven transporters | 3.D.2 | The Proton-translocating Transhydrogenase (PTH) Family |
HKHCGNOH_00348 | 2.A.3.2.8 | 88.3 | 3.3e-229 | 1 | 460 | 1.0000 | 1.0000 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.3 | The Amino Acid-Polyamine-Organocation (APC) Family |
HKHCGNOH_00350 | 9.B.72.1.2 | 78.4 | 6.1e-45 | 14 | 124 | 0.8952 | 1.0000 | 9 | Incompletely Characterized Transport Systems | 9.B | Putative transport proteins | 9.B.72 | The 4 TMS GlpM (GlpM) Family |
HKHCGNOH_00360 | 4.A.1.1.3 | 90.6 | 2.9e-277 | 1 | 530 | 1.0000 | 1.0000 | 4 | Group Translocators | 4.A | Phosphotransfer-driven Group Translocators (PTS) | 4.A.1 | The PTS Glucose-Glucoside (Glc) Family |
HKHCGNOH_00363 | 9.B.102.1.1 | 88.5 | 4.4e-209 | 1 | 391 | 0.9702 | 0.9751 | 9 | Incompletely Characterized Transport Systems | 9.B | Putative transport proteins | 9.B.102 | The YedE/YeeE (YedE/YeeE) Family |
HKHCGNOH_00376 | 3.D.6.1.4 | 81 | 0 | 1 | 738 | 0.9973 | 0.9527 | 3 | Primary Active Transporters | 3.D | Oxidoreduction-driven transporters | 3.D.6 | The Ion (H+ or Na+)-translocating NADH:Ferredoxin Oxidoreductase (NFO or RNF) Family |
HKHCGNOH_00381 | 2.A.17.1.2 | 86.6 | 3.2e-246 | 1 | 501 | 1.0000 | 1.0000 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.17 | The Proton-dependent Oligopeptide Transporter (POT/PTR) Family |
HKHCGNOH_00391 | 8.A.48.1.1 | 73.3 | 1.8e-26 | 1 | 75 | 0.9615 | 0.9615 | 8 | Accessory Factors Involved in Transport | 8.A | Auxiliary transport proteins | 8.A.48 | The Putative Auxiliary Aromatic Acid Exporter (AaeX) Family |
HKHCGNOH_00393 | 2.A.85.1.5 | 77.9 | 1.9e-305 | 1 | 669 | 0.9926 | 0.9853 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.85 | The Aromatic Acid Exporter (ArAE) Family |
HKHCGNOH_00395 | 8.A.5.1.7 | 88.3 | 7.3e-153 | 1 | 298 | 1.0000 | 1.0000 | 8 | Accessory Factors Involved in Transport | 8.A | Auxiliary transport proteins | 8.A.5 | The Voltage-gated K+ Channel β-subunit (Kvβ) Family |
HKHCGNOH_00405 | 2.A.1.2.65 | 87.1 | 6.3e-181 | 1 | 388 | 1.0000 | 0.9974 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.1 | The Major Facilitator Superfamily (MFS) |
HKHCGNOH_00409 | 2.A.1.2.62 | 77.1 | 3.6e-160 | 1 | 373 | 0.9688 | 0.9305 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.1 | The Major Facilitator Superfamily (MFS) |