Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C1753 |
Reference Plasmid |
1111525849644360_bin.33__k141_74696 |
Reference Plasmid Size |
16814 |
Reference Plasmid GC Content |
0.66 |
Reference Plasmid Mobility Type |
non-mobilizable |
Mutation sites in the plasmid cluster
The table lists mutations identified in the plasmid cluster.
Note: Mutations identified in this plasmid cluster are listed below. Click on a mutation ID to view full details..
mutid |
gname |
pos |
count |
tissue |
frequnt |
biotype |
consequence |
impact |
nucchange |
aachange |
M0013824 |
LCAFDHBH_00012 |
12801 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Phe142Phe |
M0013825 |
LCAFDHBH_00012 |
12804 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
423C>G |
Gly141Gly |
M0013826 |
LCAFDHBH_00012 |
12810 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
417C>T |
Asn139Asn |
M0013827 |
LCAFDHBH_00012 |
12816 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
Arg137Arg |
M0013828 |
LCAFDHBH_00012 |
12825 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
402C>G |
Ala134Ala |
M0013829 |
LCAFDHBH_00012 |
12972 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
255C>T |
Pro85Pro |
M0013830 |
LCAFDHBH_00012 |
13023 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
204T>C |
Ala68Ala |
M0013831 |
LCAFDHBH_00012 |
13050 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
177G>C |
Gly59Gly |
M0013832 |
LCAFDHBH_00012 |
13056 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
171G>C |
Gly57Gly |
M0013833 |
LCAFDHBH_00012 |
13089 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
138T>C |
His46His |
M0013834 |
LCAFDHBH_00012 |
13098 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
129A>G |
Thr43Thr |
M0013835 |
LCAFDHBH_00012 |
13101 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
126A>T |
Arg42Arg |
M0013836 |
LCAFDHBH_00012 |
13134 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
93C>T |
Gly31Gly |
M0013837 |
LCAFDHBH_00012 |
13137 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
90G>A |
Thr30Thr |
M0013838 |
LCAFDHBH_00012 |
13158 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
69G>A |
Glu23Glu |
M0013839 |
LCAFDHBH_00012 |
13161 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
66C>T |
Ser22Ser |
M0013840 |
LCAFDHBH_00012 |
13176 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
Gly17Gly |
M0013841 |
LCAFDHBH_00012 |
13212 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
15C>T |
Ile5Ile |
M0013842 |
LCAFDHBH_00011 |
13239 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-945T>C |
None |
M0013843 |
LCAFDHBH_00011 |
13243 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-949G>C |
None |
M0013844 |
LCAFDHBH_00011 |
13251 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-957A>C |
None |
M0013845 |
LCAFDHBH_00011 |
13252 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-958C>A |
None |
M0013846 |
LCAFDHBH_00011 |
13257 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-963A>G |
None |
M0013847 |
LCAFDHBH_00011 |
13269 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-975T>C |
None |
M0013848 |
LCAFDHBH_00011 |
13310 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1016C>T |
None |
M0013849 |
LCAFDHBH_00011 |
13316 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1022C>T |
None |
M0013850 |
LCAFDHBH_00011 |
13335 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1041T>C |
None |
M0013851 |
LCAFDHBH_00011 |
13369 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1075A>G |
None |
M0013852 |
LCAFDHBH_00011 |
13381 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1087A>G |
None |
M0013853 |
LCAFDHBH_00011 |
13382 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1088G>A |
None |
M0013854 |
LCAFDHBH_00011 |
13394 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1100A>G |
None |
M0013855 |
LCAFDHBH_00011 |
13410 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1116C>A |
None |
M0013856 |
LCAFDHBH_00013 |
13434 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
24T>C |
Asp8Asp |
M0013857 |
LCAFDHBH_00013 |
13437 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
27A>G |
Glu9Glu |
M0013858 |
LCAFDHBH_00013 |
13488 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
78G>T |
Pro26Pro |
M0013859 |
LCAFDHBH_00013 |
13518 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Ala36Ala |
M0013860 |
LCAFDHBH_00013 |
13521 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
111T>C |
Phe37Phe |
M0013861 |
LCAFDHBH_00013 |
13525 |
11 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
115C>A |
Gln39Lys |
M0013862 |
LCAFDHBH_00013 |
13698 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
288G>A |
Ala96Ala |
M0013863 |
LCAFDHBH_00013 |
14085 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
675G>A |
Glu225Glu |
M0013864 |
LCAFDHBH_00013 |
14094 |
11 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
684C>T |
Gly228Gly |
M0013865 |
LCAFDHBH_00013 |
14205 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
795C>G |
Arg265Arg |
M0013866 |
LCAFDHBH_00013 |
14226 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
816T>C |
Ile272Ile |
M0013867 |
LCAFDHBH_00013 |
14310 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
900G>A |
Ala300Ala |
M0013868 |
LCAFDHBH_00013 |
14334 |
15 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
924A>G |
Arg308Arg |
M0013869 |
LCAFDHBH_00013 |
14343 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
933C>T |
Leu311Leu |
M0013870 |
LCAFDHBH_00013 |
14415 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1005C>T |
Phe335Phe |
M0013871 |
LCAFDHBH_00013 |
14442 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1032C>T |
Tyr344Tyr |
M0013872 |
LCAFDHBH_00013 |
14457 |
9 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1047G>C |
Leu349Leu |
M0013873 |
LCAFDHBH_00013 |
14463 |
9 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1053C>T |
Arg351Arg |
M0013874 |
LCAFDHBH_00013 |
14502 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1092G>A |
Glu364Glu |
M0013875 |
LCAFDHBH_00005 |
4349 |
13 |
Skin |
0.26 |
protein_coding |
missense_variant |
MODERATE |
1159C>T |
Pro387Ser |
M0013876 |
LCAFDHBH_00005 |
4479 |
9 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1029C>T |
Val343Val |
M0013877 |
LCAFDHBH_00005 |
4518 |
11 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
990T>C |
Arg330Arg |
M0013878 |
LCAFDHBH_00005 |
4536 |
11 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
972C>T |
Ser324Ser |
M0013879 |
LCAFDHBH_00005 |
4664 |
10 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
844A>C |
Lys282Gln |
M0013880 |
LCAFDHBH_00005 |
4836 |
10 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
672G>C |
Ala224Ala |
M0013881 |
LCAFDHBH_00005 |
4839 |
12 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
669A>G |
Glu223Glu |
M0013882 |
LCAFDHBH_00005 |
4863 |
12 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
645G>C |
Gly215Gly |
M0013883 |
LCAFDHBH_00005 |
4972 |
8 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
536G>A |
Gly179Glu |
M0013884 |
LCAFDHBH_00005 |
4995 |
11 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
513T>C |
Phe171Phe |
M0013885 |
LCAFDHBH_00005 |
4998 |
13 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
510C>G |
Val170Val |
M0013886 |
LCAFDHBH_00005 |
5232 |
13 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
276T>C |
Leu92Leu |
M0013887 |
LCAFDHBH_00005 |
5235 |
9 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
273G>A |
Arg91Arg |
M0013888 |
LCAFDHBH_00005 |
5238 |
9 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
270G>A |
Val90Val |
M0013889 |
LCAFDHBH_00005 |
5259 |
12 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
249A>G |
Glu83Glu |
M0013890 |
LCAFDHBH_00005 |
5352 |
10 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
156T>C |
Pro52Pro |
M0013891 |
LCAFDHBH_00005 |
5442 |
9 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Leu22Leu |
M0013892 |
LCAFDHBH_00006 |
5545 |
13 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1353G>T |
Val451Val |
M0013893 |
LCAFDHBH_00006 |
5554 |
15 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
1344C>G |
Thr448Thr |
M0013894 |
LCAFDHBH_00006 |
5599 |
18 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
1299C>A |
Pro433Pro |
M0013895 |
LCAFDHBH_00006 |
5617 |
18 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
1281A>G |
Pro427Pro |
M0013896 |
LCAFDHBH_00006 |
5629 |
15 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
1269T>C |
Cys423Cys |
M0013897 |
LCAFDHBH_00006 |
5633 |
15 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
1265C>G |
Ala422Gly |
M0013898 |
LCAFDHBH_00006 |
5646 |
18 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
1252C>G |
His418Asp |
M0013899 |
LCAFDHBH_00006 |
5648 |
18 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
1250G>A |
Arg417His |
M0013900 |
LCAFDHBH_00006 |
5653 |
15 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
1245G>C |
Ala415Ala |
M0013901 |
LCAFDHBH_00006 |
5676 |
19 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
1222G>C |
Ala408Pro |
M0013902 |
LCAFDHBH_00006 |
5701 |
19 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
1197C>A |
Gly399Gly |
M0013903 |
LCAFDHBH_00006 |
5707 |
17 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
1191A>G |
Gln397Gln |
M0013904 |
LCAFDHBH_00006 |
5715 |
17 |
Skin |
0.34 |
protein_coding |
missense_variant |
MODERATE |
1183G>A |
Ala395Thr |
M0013905 |
LCAFDHBH_00006 |
5745 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1153C>T |
Leu385Leu |
M0013906 |
LCAFDHBH_00006 |
5746 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1152T>A |
Arg384Arg |
M0013907 |
LCAFDHBH_00006 |
5747 |
8 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1151G>A |
Arg384His |
M0013908 |
LCAFDHBH_00006 |
5748 |
8 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1150C>A |
Arg384Ser |
M0013909 |
LCAFDHBH_00006 |
5752 |
11 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1146A>G |
Gln382Gln |
M0013910 |
LCAFDHBH_00006 |
5782 |
18 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
1116T>C |
Ala372Ala |
M0013911 |
LCAFDHBH_00006 |
5785 |
18 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
1113C>T |
Pro371Pro |
M0013912 |
LCAFDHBH_00006 |
5793 |
19 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
1105A>G |
Ile369Val |
M0013913 |
LCAFDHBH_00006 |
5797 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1101C>T |
His367His |
M0013914 |
LCAFDHBH_00006 |
5814 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1084G>T |
Val362Leu |
M0013915 |
LCAFDHBH_00006 |
5815 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1083A>G |
Glu361Glu |
M0013916 |
LCAFDHBH_00006 |
5875 |
13 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1023C>T |
Arg341Arg |
M0013917 |
LCAFDHBH_00006 |
6031 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
867T>C |
Gly289Gly |
M0013918 |
LCAFDHBH_00006 |
6032 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
866G>C |
Gly289Ala |
M0013919 |
LCAFDHBH_00006 |
6054 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
844T>C |
Leu282Leu |
M0013920 |
LCAFDHBH_00006 |
6093 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
805G>C |
Ala269Pro |
M0013921 |
LCAFDHBH_00006 |
6098 |
6 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
800A>C |
Asp267Ala |
M0013922 |
LCAFDHBH_00006 |
6109 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
789G>A |
Ala263Ala |
M0013923 |
LCAFDHBH_00006 |
6111 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
787G>T |
Ala263Ser |
M0013924 |
LCAFDHBH_00006 |
6117 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
781G>A |
Asp261Asn |
M0013925 |
LCAFDHBH_00006 |
6124 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
774A>G |
Glu258Glu |
M0013926 |
LCAFDHBH_00006 |
6125 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
773A>G |
Glu258Gly |
M0013927 |
LCAFDHBH_00006 |
6223 |
14 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
675T>C |
Val225Val |
M0013928 |
LCAFDHBH_00006 |
6232 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
666C>T |
Ser222Ser |
M0013929 |
LCAFDHBH_00006 |
6233 |
7 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
665G>C |
Ser222Thr |
M0013930 |
LCAFDHBH_00006 |
6234 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
664A>T |
Ser222Cys |
M0013931 |
LCAFDHBH_00006 |
6262 |
12 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
636G>C |
Leu212Leu |
M0013932 |
LCAFDHBH_00006 |
6283 |
15 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
615T>C |
Ala205Ala |
M0013933 |
LCAFDHBH_00006 |
6317 |
13 |
Skin |
0.26 |
protein_coding |
missense_variant |
MODERATE |
581A>G |
His194Arg |
M0013934 |
LCAFDHBH_00006 |
6318 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
580C>T |
His194Tyr |
M0013935 |
LCAFDHBH_00006 |
6339 |
7 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
559T>G |
Ser187Ala |
M0013936 |
LCAFDHBH_00006 |
6349 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
549A>G |
Glu183Glu |
M0013937 |
LCAFDHBH_00006 |
6355 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
543C>T |
Asp181Asp |
M0013938 |
LCAFDHBH_00006 |
6361 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
537C>T |
Tyr179Tyr |
M0013939 |
LCAFDHBH_00006 |
6389 |
14 |
Skin |
0.28 |
protein_coding |
missense_variant |
MODERATE |
509A>G |
Glu170Gly |
M0013940 |
LCAFDHBH_00006 |
6421 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
477C>A |
Ile159Ile |
M0013941 |
LCAFDHBH_00006 |
6594 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
304G>A |
Val102Met |
M0013942 |
LCAFDHBH_00006 |
6632 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
266C>G |
Thr89Ser |
M0013943 |
LCAFDHBH_00006 |
6637 |
11 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
261G>C |
Gly87Gly |
M0013944 |
LCAFDHBH_00006 |
6661 |
13 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
237C>T |
Asn79Asn |
M0013945 |
LCAFDHBH_00006 |
6715 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
183C>T |
Arg61Arg |
M0013946 |
LCAFDHBH_00004 |
3248 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
18C>T |
Ser6Ser |
M0013947 |
LCAFDHBH_00004 |
3296 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Glu22Glu |
M0013948 |
LCAFDHBH_00004 |
3299 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
69G>A |
Glu23Glu |
M0013949 |
LCAFDHBH_00004 |
3308 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
78T>C |
Arg26Arg |
M0013950 |
LCAFDHBH_00004 |
3311 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
81C>T |
Arg27Arg |
M0013951 |
LCAFDHBH_00004 |
3312 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
82C>A |
Leu28Met |
M0013952 |
LCAFDHBH_00004 |
3314 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
84G>C |
Leu28Leu |
M0013953 |
LCAFDHBH_00004 |
3317 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
87C>T |
Leu29Leu |
M0013954 |
LCAFDHBH_00004 |
3318 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
88A>C |
Lys30Gln |
M0013955 |
LCAFDHBH_00004 |
3816 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
586A>C |
Arg196Arg |
M0013956 |
LCAFDHBH_00004 |
3818 |
6 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
588G>T |
Arg196Ser |
M0013957 |
LCAFDHBH_00004 |
3830 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
600G>C |
Ala200Ala |
M0013958 |
LCAFDHBH_00004 |
3833 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
603C>T |
Val201Val |
M0013959 |
LCAFDHBH_00004 |
3834 |
6 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
604A>C |
Ile202Leu |
M0013960 |
LCAFDHBH_00004 |
3857 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
627G>C |
Val209Val |
M0013961 |
LCAFDHBH_00004 |
3878 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
648T>G |
Pro216Pro |
M0013962 |
LCAFDHBH_00005 |
4107 |
11 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1401G>C |
Val467Val |
M0013963 |
LCAFDHBH_00005 |
4113 |
11 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1395T>C |
Arg465Arg |
M0013964 |
LCAFDHBH_00005 |
4119 |
11 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1389C>G |
Ala463Ala |
M0013965 |
LCAFDHBH_00005 |
4209 |
9 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1299G>C |
Thr433Thr |
M0013966 |
LCAFDHBH_00005 |
4884 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
624C>A |
Arg208Arg |
M0013967 |
LCAFDHBH_00005 |
4896 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
612C>G |
Thr204Thr |
M0013968 |
LCAFDHBH_00005 |
4926 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
582C>T |
Thr194Thr |
M0013969 |
LCAFDHBH_00005 |
4932 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
576C>A |
Pro192Pro |
M0013970 |
LCAFDHBH_00005 |
4938 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
570T>C |
Arg190Arg |
M0013971 |
LCAFDHBH_00005 |
4944 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
564G>A |
Ala188Ala |
M0013972 |
LCAFDHBH_00005 |
4952 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
556G>A |
Val186Met |
M0013973 |
LCAFDHBH_00005 |
4961 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
547G>A |
Gly183Ser |
M0013974 |
LCAFDHBH_00005 |
4962 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
546G>C |
Thr182Thr |
M0013975 |
LCAFDHBH_00005 |
4965 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
543C>T |
Ile181Ile |
M0013976 |
LCAFDHBH_00006 |
5791 |
11 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1107T>C |
Ile369Ile |
M0013977 |
LCAFDHBH_00006 |
5821 |
11 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1077C>T |
Ala359Ala |
M0013978 |
LCAFDHBH_00006 |
5823 |
9 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
1075G>A |
Ala359Thr |
M0013979 |
LCAFDHBH_00006 |
5827 |
11 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1071A>G |
Val357Val |
M0013980 |
LCAFDHBH_00006 |
5917 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
981C>A |
Asp327Glu |
M0013981 |
LCAFDHBH_00006 |
5942 |
7 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
956G>A |
Gly319Asp |
M0013982 |
LCAFDHBH_00006 |
5944 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
954T>C |
Ala318Ala |
M0013983 |
LCAFDHBH_00006 |
5954 |
9 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
944C>T |
Ala315Val |
M0013984 |
LCAFDHBH_00006 |
6087 |
7 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
811A>T |
Ile271Phe |
M0013985 |
LCAFDHBH_00006 |
6089 |
10 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
809C>A |
Pro270Gln |
M0013986 |
LCAFDHBH_00006 |
6091 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
807C>T |
Ala269Ala |
M0013987 |
LCAFDHBH_00006 |
6095 |
7 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
803C>T |
Pro268Leu |
M0013988 |
LCAFDHBH_00006 |
6114 |
10 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
784G>A |
Ala262Thr |
M0013989 |
LCAFDHBH_00006 |
6130 |
10 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
768T>C |
Ser256Ser |
M0013990 |
LCAFDHBH_00006 |
6184 |
12 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
714A>G |
Pro238Pro |
M0013991 |
LCAFDHBH_00006 |
6292 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
606G>T |
Pro202Pro |
M0013992 |
LCAFDHBH_00006 |
6376 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
522G>A |
Glu174Glu |
M0013993 |
LCAFDHBH_00006 |
6503 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
395G>A |
Cys132Tyr |
M0013994 |
LCAFDHBH_00006 |
6533 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
365A>G |
Asp122Gly |
M0013995 |
LCAFDHBH_00006 |
6535 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
363C>T |
Ser121Ser |
M0013996 |
LCAFDHBH_00006 |
6571 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
327T>C |
His109His |
M0013997 |
LCAFDHBH_00006 |
6574 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
324G>T |
Leu108Leu |
M0013998 |
LCAFDHBH_00006 |
6636 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
262C>T |
Leu88Leu |
M0013999 |
LCAFDHBH_00006 |
6703 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
195G>A |
Val65Val |
M0014000 |
LCAFDHBH_00006 |
6778 |
12 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
Gly40Gly |
M0014001 |
LCAFDHBH_00006 |
6793 |
12 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
105G>A |
Glu35Glu |
M0014002 |
LCAFDHBH_00006 |
6808 |
14 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
90G>C |
Ala30Ala |
M0014003 |
LCAFDHBH_00006 |
6811 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
87C>T |
His29His |
M0014004 |
LCAFDHBH_00007 |
7136 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
96G>A |
Glu32Glu |
M0014005 |
LCAFDHBH_00007 |
7208 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
168C>T |
Arg56Arg |
M0014006 |
LCAFDHBH_00007 |
7274 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
234T>C |
Asp78Asp |
M0014007 |
LCAFDHBH_00007 |
7286 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
246T>G |
Gly82Gly |
M0014008 |
LCAFDHBH_00007 |
7287 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
247T>C |
Phe83Leu |
M0014009 |
LCAFDHBH_00007 |
7289 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
249C>G |
Phe83Leu |
M0014010 |
LCAFDHBH_00007 |
7307 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
267G>T |
Arg89Arg |
M0014011 |
LCAFDHBH_00007 |
7427 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
387T>C |
Ala129Ala |
M0014012 |
LCAFDHBH_00007 |
7439 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
399T>A |
Ala133Ala |
M0014013 |
LCAFDHBH_00007 |
7442 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
402C>G |
Gly134Gly |
M0014014 |
LCAFDHBH_00007 |
7487 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
447C>T |
Ala149Ala |
M0014015 |
LCAFDHBH_00007 |
7571 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
531G>C |
Leu177Leu |
M0014016 |
LCAFDHBH_00007 |
7583 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
543T>C |
His181His |
M0014017 |
LCAFDHBH_00007 |
7610 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
570G>C |
Ala190Ala |
M0014018 |
LCAFDHBH_00007 |
7621 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
581G>A |
Gly194Asp |
M0014019 |
LCAFDHBH_00007 |
7625 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
585T>A |
Gly195Gly |
M0014020 |
LCAFDHBH_00007 |
7751 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
711C>T |
Tyr237Tyr |
M0014021 |
LCAFDHBH_00007 |
7769 |
9 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
729G>C |
Arg243Arg |
M0014022 |
LCAFDHBH_00007 |
7814 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
774C>G |
Leu258Leu |
M0014023 |
LCAFDHBH_00007 |
7819 |
7 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
779C>T |
Ala260Val |
M0014024 |
LCAFDHBH_00007 |
7835 |
7 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
795C>G |
Asp265Glu |
M0014025 |
LCAFDHBH_00007 |
7838 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
798C>T |
Ile266Ile |
M0014026 |
LCAFDHBH_00007 |
7922 |
9 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
882T>C |
Gly294Gly |
M0014027 |
LCAFDHBH_00007 |
7925 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
885C>G |
Val295Val |
M0014028 |
LCAFDHBH_00007 |
8060 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1020G>A |
Gln340Gln |
M0014029 |
LCAFDHBH_00007 |
8237 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1197T>C |
Asp399Asp |
M0014030 |
LCAFDHBH_00008 |
8842 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
210A>C |
Arg70Arg |
M0014031 |
LCAFDHBH_00008 |
8854 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
222C>T |
Phe74Phe |
M0014032 |
LCAFDHBH_00008 |
8857 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
225G>C |
Val75Val |
M0014033 |
LCAFDHBH_00008 |
8869 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
237G>C |
Leu79Leu |
M0014034 |
LCAFDHBH_00008 |
8878 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
246C>T |
His82His |
M0014035 |
LCAFDHBH_00008 |
8908 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
276C>G |
Ser92Ser |
M0014036 |
LCAFDHBH_00008 |
8941 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
309G>C |
Ser103Ser |
M0014037 |
LCAFDHBH_00009 |
9413 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
252C>T |
Pro84Pro |
M0014038 |
LCAFDHBH_00009 |
9511 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
350T>C |
Val117Ala |
M0014039 |
LCAFDHBH_00009 |
9512 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
351G>C |
Val117Val |
M0014040 |
LCAFDHBH_00009 |
9515 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
354G>C |
Arg118Arg |
M0014041 |
LCAFDHBH_00009 |
9521 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
360G>C |
Val120Val |
M0014042 |
LCAFDHBH_00009 |
9527 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
366T>G |
Pro122Pro |
M0014043 |
LCAFDHBH_00009 |
9535 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
374A>G |
Gln125Arg |
M0014044 |
LCAFDHBH_00009 |
9543 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
382T>A |
Trp128Arg |
M0014045 |
LCAFDHBH_00009 |
9544 |
4 |
Skin |
0.08 |
protein_coding |
stop_gained |
HIGH |
383G>A |
Trp128* |
M0014046 |
LCAFDHBH_00009 |
9545 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
384G>C |
Trp128Cys |
M0014047 |
LCAFDHBH_00009 |
9641 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
480G>C |
Val160Val |
M0014048 |
LCAFDHBH_00009 |
9707 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
546A>G |
Leu182Leu |
M0014049 |
LCAFDHBH_00009 |
9710 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
549T>C |
Pro183Pro |
M0014050 |
LCAFDHBH_00009 |
9722 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
561G>C |
Leu187Leu |
M0014051 |
LCAFDHBH_00009 |
9726 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
565T>C |
Tyr189His |
M0014052 |
LCAFDHBH_00009 |
9737 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
576T>C |
Phe192Phe |
M0014053 |
LCAFDHBH_00009 |
9740 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
579G>C |
Leu193Leu |
M0014054 |
LCAFDHBH_00009 |
9749 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
588T>C |
Gly196Gly |
M0014055 |
LCAFDHBH_00010 |
10081 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
99A>G |
Ala33Ala |
M0014056 |
LCAFDHBH_00010 |
10225 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
243G>C |
Ala81Ala |
M0014057 |
LCAFDHBH_00010 |
10264 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
282C>G |
Val94Val |
M0014058 |
LCAFDHBH_00010 |
10333 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
351C>G |
Thr117Thr |
M0014059 |
LCAFDHBH_00010 |
10336 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
354G>C |
Leu118Leu |
M0014060 |
LCAFDHBH_00010 |
10351 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
369G>A |
Lys123Lys |
M0014061 |
LCAFDHBH_00010 |
10370 |
6 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
388C>T |
Arg130Trp |
M0014062 |
LCAFDHBH_00014 |
15303 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
729C>G |
Arg243Arg |
M0014063 |
LCAFDHBH_00014 |
15318 |
12 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
744T>C |
Ile248Ile |
M0014064 |
LCAFDHBH_00014 |
15319 |
10 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
745C>A |
Arg249Arg |
M0014065 |
LCAFDHBH_00011 |
15527 |
12 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3233G>A |
None |
M0014066 |
LCAFDHBH_00011 |
15542 |
12 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3248G>A |
None |
M0014067 |
LCAFDHBH_00011 |
15570 |
12 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3276A>G |
None |
M0014068 |
LCAFDHBH_00011 |
15617 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3323T>C |
None |
M0014069 |
LCAFDHBH_00011 |
15620 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3326A>G |
None |
M0014070 |
LCAFDHBH_00011 |
15699 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3405G>T |
None |
M0014071 |
LCAFDHBH_00011 |
15716 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3422G>T |
None |
M0014072 |
LCAFDHBH_00011 |
15719 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3425G>A |
None |
M0014073 |
LCAFDHBH_00011 |
15720 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3426G>A |
None |
M0014074 |
LCAFDHBH_00011 |
15725 |
6 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3431C>G |
None |
M0014075 |
LCAFDHBH_00011 |
15727 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3433C>T |
None |
M0014076 |
LCAFDHBH_00011 |
15735 |
6 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3441C>G |
None |
M0014077 |
LCAFDHBH_00011 |
15743 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3449T>C |
None |
M0014078 |
LCAFDHBH_00011 |
15752 |
6 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3458A>G |
None |
M0014079 |
LCAFDHBH_00011 |
15812 |
12 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3518C>T |
None |
M0014080 |
LCAFDHBH_00011 |
15813 |
12 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3519C>A |
None |
M0014081 |
LCAFDHBH_00006 |
5674 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1224G>T |
Ala408Ala |
M0014082 |
LCAFDHBH_00006 |
5677 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1221C>A |
Ala407Ala |
M0014083 |
LCAFDHBH_00006 |
5680 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1218C>A |
Arg406Arg |
M0014084 |
LCAFDHBH_00006 |
6286 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
612T>C |
Phe204Phe |
M0014085 |
LCAFDHBH_00006 |
6871 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
27C>G |
Leu9Leu |
M0014086 |
LCAFDHBH_00006 |
6886 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
12C>G |
Ser4Arg |
M0014087 |
LCAFDHBH_00006 |
6894 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
4G>A |
Ala2Thr |
M0014088 |
LCAFDHBH_00007 |
7091 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
51T>C |
Phe17Phe |
M0014089 |
LCAFDHBH_00007 |
7127 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
87T>C |
Ile29Ile |
M0014090 |
LCAFDHBH_00007 |
7149 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
109T>C |
Leu37Leu |
M0014091 |
LCAFDHBH_00007 |
7166 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
126C>T |
Val42Val |
M0014092 |
LCAFDHBH_00007 |
7172 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
132C>G |
Pro44Pro |
M0014093 |
LCAFDHBH_00007 |
7181 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
141C>G |
Pro47Pro |
M0014094 |
LCAFDHBH_00007 |
7197 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
157C>T |
Leu53Leu |
M0014095 |
LCAFDHBH_00007 |
7352 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
312A>G |
Glu104Glu |
M0014096 |
LCAFDHBH_00007 |
7370 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
330A>G |
Glu110Glu |
M0014097 |
LCAFDHBH_00007 |
7514 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
474A>C |
Gln158His |
M0014098 |
LCAFDHBH_00007 |
7556 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
516G>C |
Thr172Thr |
M0014099 |
LCAFDHBH_00007 |
7616 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
576G>A |
Glu192Glu |
M0014100 |
LCAFDHBH_00007 |
7634 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
594C>T |
Gly198Gly |
M0014101 |
LCAFDHBH_00007 |
7661 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
621C>G |
Leu207Leu |
M0014102 |
LCAFDHBH_00007 |
7679 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
639T>C |
Leu213Leu |
M0014103 |
LCAFDHBH_00007 |
7683 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
643C>A |
Arg215Arg |
M0014104 |
LCAFDHBH_00007 |
7684 |
6 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
644G>A |
Arg215Gln |
M0014105 |
LCAFDHBH_00007 |
7700 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
660C>T |
Phe220Phe |
M0014106 |
LCAFDHBH_00007 |
8210 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1170C>G |
Thr390Thr |
M0014107 |
LCAFDHBH_00007 |
8345 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1305T>C |
Gly435Gly |
M0014108 |
LCAFDHBH_00007 |
8387 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1347C>T |
Val449Val |
M0014109 |
LCAFDHBH_00007 |
8390 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1350C>T |
Tyr450Tyr |
M0014110 |
LCAFDHBH_00007 |
8450 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1410C>T |
Gly470Gly |
M0014111 |
LCAFDHBH_00007 |
8552 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1512G>A |
Arg504Arg |
M0014112 |
LCAFDHBH_00007 |
8597 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1557A>G |
Gly519Gly |
M0014113 |
LCAFDHBH_00008 |
8695 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
63C>T |
Gly21Gly |
M0014114 |
LCAFDHBH_00008 |
8710 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
78C>G |
Thr26Thr |
M0014115 |
LCAFDHBH_00008 |
8725 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
93C>G |
Leu31Leu |
M0014116 |
LCAFDHBH_00008 |
8728 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
96C>T |
Tyr32Tyr |
M0014117 |
LCAFDHBH_00008 |
8755 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
123G>C |
Ala41Ala |
M0014118 |
LCAFDHBH_00008 |
8785 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
153C>T |
Arg51Arg |
M0014119 |
LCAFDHBH_00008 |
8788 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
156G>A |
Glu52Glu |
M0014120 |
LCAFDHBH_00008 |
8791 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
159C>T |
Asn53Asn |
M0014121 |
LCAFDHBH_00008 |
8794 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
162C>G |
Leu54Leu |
M0014122 |
LCAFDHBH_00008 |
8818 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
186A>G |
Lys62Lys |
M0014123 |
LCAFDHBH_00008 |
8819 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
187G>C |
Glu63Gln |
M0014124 |
LCAFDHBH_00009 |
9182 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
21C>G |
Arg7Arg |
M0014125 |
LCAFDHBH_00009 |
9186 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
25G>A |
Val9Ile |
M0014126 |
LCAFDHBH_00009 |
9190 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
29T>G |
Leu10Trp |
M0014127 |
LCAFDHBH_00009 |
9197 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
36T>A |
Asp12Glu |
M0014128 |
LCAFDHBH_00009 |
9200 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
39C>A |
Thr13Thr |
M0014129 |
LCAFDHBH_00009 |
9203 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
42C>T |
Phe14Phe |
M0014130 |
LCAFDHBH_00009 |
9211 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
50G>A |
Gly17Asp |
M0014131 |
LCAFDHBH_00009 |
9242 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
81G>A |
Ala27Ala |
M0014132 |
LCAFDHBH_00009 |
9247 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
86C>G |
Ala29Gly |
M0014133 |
LCAFDHBH_00009 |
9254 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Phe31Phe |
M0014134 |
LCAFDHBH_00009 |
9255 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
94C>G |
Pro32Ala |
M0014135 |
LCAFDHBH_00009 |
9257 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
96G>T |
Pro32Pro |
M0014136 |
LCAFDHBH_00010 |
10231 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
249C>T |
Gly83Gly |
M0014137 |
LCAFDHBH_00005 |
5019 |
10 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
489G>C |
Leu163Leu |
M0014138 |
LCAFDHBH_00005 |
5046 |
9 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
462C>T |
Arg154Arg |
M0014139 |
LCAFDHBH_00005 |
5052 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
456G>A |
Thr152Thr |
M0014140 |
LCAFDHBH_00005 |
5055 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
453A>G |
Gly151Gly |
M0014141 |
LCAFDHBH_00006 |
5800 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1098G>A |
Leu366Leu |
M0014142 |
LCAFDHBH_00006 |
5914 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
984C>G |
Leu328Leu |
M0014143 |
LCAFDHBH_00006 |
5920 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
978A>G |
Gln326Gln |
M0014144 |
LCAFDHBH_00006 |
5921 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
977A>G |
Gln326Arg |
M0014145 |
LCAFDHBH_00006 |
5953 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
945G>A |
Ala315Ala |
M0014146 |
LCAFDHBH_00012 |
12831 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Phe132Phe |
M0014147 |
LCAFDHBH_00012 |
12834 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
393C>T |
Ser131Ser |
M0014148 |
LCAFDHBH_00012 |
12879 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
348T>C |
Arg116Arg |
M0014149 |
LCAFDHBH_00012 |
12888 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
339G>A |
Glu113Glu |
M0014150 |
LCAFDHBH_00013 |
13860 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
450G>C |
Gly150Gly |
M0014151 |
LCAFDHBH_00013 |
13889 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
479G>A |
Arg160His |
M0014152 |
LCAFDHBH_00013 |
13944 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
534G>C |
Leu178Leu |
M0014153 |
LCAFDHBH_00013 |
14076 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
666C>T |
Ile222Ile |
M0014154 |
LCAFDHBH_00013 |
14079 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
669G>C |
Gly223Gly |
M0014155 |
LCAFDHBH_00013 |
14235 |
10 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
825T>C |
His275His |
M0014156 |
LCAFDHBH_00013 |
14256 |
10 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
846T>C |
Leu282Leu |
M0014157 |
LCAFDHBH_00013 |
14319 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
909G>C |
Val303Val |
M0014158 |
LCAFDHBH_00013 |
14322 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
912T>C |
Asp304Asp |
M0014159 |
LCAFDHBH_00013 |
14367 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
957T>C |
Phe319Phe |
M0014160 |
LCAFDHBH_00013 |
14430 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1020C>T |
Tyr340Tyr |
M0014161 |
LCAFDHBH_00013 |
14436 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1026C>T |
Thr342Thr |
M0014162 |
LCAFDHBH_00011 |
15579 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3285A>G |
None |
M0014163 |
LCAFDHBH_00011 |
15614 |
6 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3320G>A |
None |
M0014164 |
LCAFDHBH_00011 |
15692 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3398G>C |
None |
M0014165 |
LCAFDHBH_00011 |
15695 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3401C>A |
None |
M0014166 |
LCAFDHBH_00011 |
15696 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3402G>A |
None |
M0014167 |
LCAFDHBH_00011 |
15821 |
11 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3527G>C |
None |
M0014168 |
LCAFDHBH_00011 |
15824 |
11 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3530T>G |
None |
M0014169 |
LCAFDHBH_00011 |
15827 |
8 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3533T>C |
None |
M0014170 |
LCAFDHBH_00011 |
15929 |
11 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3635A>G |
None |
M0014171 |
LCAFDHBH_00011 |
15950 |
13 |
Skin |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3656C>T |
None |
M0014172 |
LCAFDHBH_00011 |
15977 |
10 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3683C>G |
None |
M0014173 |
LCAFDHBH_00011 |
16271 |
10 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3977G>C |
None |
M0014174 |
LCAFDHBH_00011 |
16379 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4085T>C |
None |
M0014175 |
LCAFDHBH_00011 |
16403 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4109C>G |
None |
M0014176 |
LCAFDHBH_00011 |
16407 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4113T>G |
None |
M0014177 |
LCAFDHBH_00011 |
16409 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4115G>C |
None |
M0014178 |
LCAFDHBH_00011 |
16418 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4124G>A |
None |
M0014179 |
LCAFDHBH_00011 |
16421 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4127G>A |
None |
M0014180 |
LCAFDHBH_00011 |
16442 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4148A>G |
None |
M0014181 |
LCAFDHBH_00011 |
16457 |
7 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4163C>T |
None |
M0014182 |
LCAFDHBH_00011 |
16469 |
7 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4175C>A |
None |
M0014183 |
LCAFDHBH_00011 |
16477 |
7 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4183C>T |
None |
M0014184 |
LCAFDHBH_00011 |
16481 |
7 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4187C>T |
None |
M0014185 |
LCAFDHBH_00011 |
16487 |
7 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4193T>C |
None |
M0014186 |
LCAFDHBH_00011 |
16496 |
7 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4202G>A |
None |
M0014187 |
LCAFDHBH_00011 |
16511 |
7 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4217T>C |
None |
M0014188 |
LCAFDHBH_00011 |
16535 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4241G>C |
None |
M0014189 |
LCAFDHBH_00011 |
16547 |
6 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4253G>A |
None |
M0014190 |
LCAFDHBH_00011 |
16568 |
6 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4274G>C |
None |
M0014191 |
LCAFDHBH_00011 |
16571 |
6 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4277A>T |
None |
M0014192 |
LCAFDHBH_00011 |
16640 |
8 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4346G>C |
None |
M0014193 |
LCAFDHBH_00011 |
16649 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4355G>A |
None |
M0014194 |
LCAFDHBH_00011 |
16652 |
8 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4358A>G |
None |
M0014195 |
LCAFDHBH_00011 |
16655 |
8 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4361A>G |
None |
M0014196 |
LCAFDHBH_00012 |
13083 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
144G>C |
Gly48Gly |
M0014197 |
LCAFDHBH_00012 |
13086 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
141G>A |
Glu47Glu |
M0014198 |
LCAFDHBH_00012 |
13110 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
117G>A |
Glu39Glu |
M0014199 |
LCAFDHBH_00013 |
13718 |
7 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
308C>A |
Ala103Glu |
M0014200 |
LCAFDHBH_00013 |
13725 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
315G>A |
Gln105Gln |
M0014201 |
LCAFDHBH_00013 |
13728 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
318G>A |
Lys106Lys |
M0014202 |
LCAFDHBH_00013 |
13729 |
7 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
319G>C |
Gly107Arg |
M0014203 |
LCAFDHBH_00013 |
13744 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
334A>C |
Arg112Arg |
M0014204 |
LCAFDHBH_00013 |
13851 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
441T>G |
Val147Val |
M0014205 |
LCAFDHBH_00013 |
13932 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
522G>T |
Gly174Gly |
M0014206 |
LCAFDHBH_00014 |
14806 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
232C>A |
Leu78Ile |
M0014207 |
LCAFDHBH_00014 |
14811 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
His79His |
M0014208 |
LCAFDHBH_00014 |
14814 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
240T>G |
Gly80Gly |
M0014209 |
LCAFDHBH_00014 |
14905 |
6 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
331A>G |
Ile111Val |
M0014210 |
LCAFDHBH_00014 |
14961 |
8 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
387G>C |
Glu129Asp |
M0014211 |
LCAFDHBH_00014 |
15024 |
9 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
450C>T |
Tyr150Tyr |
M0014212 |
LCAFDHBH_00014 |
15087 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
513G>A |
Leu171Leu |
M0014213 |
LCAFDHBH_00014 |
15147 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
573C>T |
Ile191Ile |
M0014214 |
LCAFDHBH_00014 |
15171 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
597G>A |
Gly199Gly |
M0014215 |
LCAFDHBH_00014 |
15243 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
669A>G |
Glu223Glu |
M0014216 |
LCAFDHBH_00011 |
16188 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3894T>G |
None |
M0014217 |
LCAFDHBH_00011 |
16229 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3935C>T |
None |
M0014218 |
LCAFDHBH_00011 |
16712 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4418G>A |
None |
M0014219 |
LCAFDHBH_00011 |
16725 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4431C>G |
None |
M0014220 |
LCAFDHBH_00011 |
16727 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4433C>G |
None |
M0014221 |
LCAFDHBH_00011 |
16732 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4438G>T |
None |
M0014222 |
LCAFDHBH_00011 |
16733 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4439T>G |
None |
M0014223 |
LCAFDHBH_00011 |
16742 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4448C>G |
None |
M0014224 |
LCAFDHBH_00011 |
16743 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4449C>G |
None |
M0014225 |
LCAFDHBH_00005 |
5307 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
201C>G |
Ser67Ser |
M0014226 |
LCAFDHBH_00005 |
5310 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
198G>C |
Pro66Pro |
M0014227 |
LCAFDHBH_00005 |
5315 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
193T>C |
Leu65Leu |
M0014228 |
LCAFDHBH_00006 |
6172 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
726C>T |
His242His |
M0014229 |
LCAFDHBH_00006 |
6713 |
6 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
185T>C |
Phe62Ser |
M0014230 |
LCAFDHBH_00005 |
4143 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1365T>C |
Val455Val |
M0014231 |
LCAFDHBH_00005 |
4146 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1362C>G |
Ala454Ala |
M0014232 |
LCAFDHBH_00005 |
4149 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1359A>G |
Ala453Ala |
M0014233 |
LCAFDHBH_00005 |
4173 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1335C>T |
Gly445Gly |
M0014234 |
LCAFDHBH_00005 |
4227 |
8 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1281A>G |
Glu427Glu |
M0014235 |
LCAFDHBH_00005 |
4229 |
8 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1279G>C |
Glu427Gln |
M0014236 |
LCAFDHBH_00005 |
4287 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1221G>C |
Thr407Thr |
M0014237 |
LCAFDHBH_00005 |
4345 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1163A>G |
Gln388Arg |
M0014238 |
LCAFDHBH_00005 |
4350 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1158C>T |
Gly386Gly |
M0014239 |
LCAFDHBH_00005 |
4887 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
621A>G |
Gln207Gln |
M0014240 |
LCAFDHBH_00005 |
4947 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
561C>T |
Ala187Ala |
M0014241 |
LCAFDHBH_00005 |
4960 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
548G>A |
Gly183Asp |
M0014242 |
LCAFDHBH_00006 |
6726 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
172C>A |
Arg58Arg |
M0014243 |
LCAFDHBH_00006 |
6787 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
111A>T |
Gly37Gly |
M0014244 |
LCAFDHBH_00006 |
6896 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
2T>C |
Val1Ala |
M0014245 |
LCAFDHBH_00003 |
6957 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3749A>G |
None |
M0014246 |
LCAFDHBH_00003 |
7017 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3809A>G |
None |
M0014247 |
LCAFDHBH_00006 |
6877 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
21C>T |
Arg7Arg |
M0014248 |
LCAFDHBH_00006 |
6892 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
6A>G |
Ala2Ala |
M0014249 |
LCAFDHBH_00003 |
6935 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3727A>G |
None |
M0014250 |
LCAFDHBH_00007 |
7964 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
924G>C |
Thr308Thr |
M0014251 |
LCAFDHBH_00007 |
7970 |
6 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
930C>G |
Thr310Thr |
M0014252 |
LCAFDHBH_00007 |
8147 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1107G>C |
Thr369Thr |
M0014253 |
LCAFDHBH_00007 |
8159 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1119C>T |
Thr373Thr |
M0014254 |
LCAFDHBH_00007 |
8162 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1122G>C |
Thr374Thr |
M0014255 |
LCAFDHBH_00007 |
8165 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1125T>C |
Ile375Ile |
M0014256 |
LCAFDHBH_00007 |
8213 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1173G>A |
Lys391Lys |
M0014257 |
LCAFDHBH_00007 |
8219 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1179G>A |
Arg393Arg |
M0014258 |
LCAFDHBH_00007 |
8267 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1227T>C |
Asp409Asp |
M0014259 |
LCAFDHBH_00007 |
8279 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1239G>C |
Val413Val |
M0014260 |
LCAFDHBH_00007 |
8282 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1242T>C |
Ile414Ile |
M0014261 |
LCAFDHBH_00007 |
8349 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1309C>T |
Leu437Leu |
M0014262 |
LCAFDHBH_00007 |
8351 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1311G>A |
Leu437Leu |
M0014263 |
LCAFDHBH_00007 |
8354 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1314G>T |
Arg438Arg |
M0014264 |
LCAFDHBH_00007 |
8546 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1506C>T |
Ala502Ala |
M0014265 |
LCAFDHBH_00008 |
8689 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
57C>T |
Leu19Leu |
M0014266 |
LCAFDHBH_00008 |
8899 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
267C>T |
Ser89Ser |
M0014267 |
LCAFDHBH_00008 |
9034 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
402T>C |
Ala134Ala |
M0014268 |
LCAFDHBH_00009 |
9311 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
150C>G |
Leu50Leu |
M0014269 |
LCAFDHBH_00009 |
9323 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
162G>A |
Ala54Ala |
M0014270 |
LCAFDHBH_00009 |
9338 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
177G>A |
Glu59Glu |
M0014271 |
LCAFDHBH_00009 |
9353 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
192T>C |
Asp64Asp |
M0014272 |
LCAFDHBH_00009 |
9356 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
195C>G |
Thr65Thr |
M0014273 |
LCAFDHBH_00009 |
9368 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
207C>T |
Phe69Phe |
M0014274 |
LCAFDHBH_00007 |
8273 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1233T>C |
Pro411Pro |
M0014275 |
LCAFDHBH_00008 |
9037 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
405A>G |
Gly135Gly |
M0014276 |
LCAFDHBH_00010 |
10174 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
192C>T |
Gly64Gly |
M0014277 |
LCAFDHBH_00010 |
10208 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
226G>A |
Glu76Lys |
M0014278 |
LCAFDHBH_00013 |
14151 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
741C>G |
Gly247Gly |
M0014279 |
LCAFDHBH_00013 |
14247 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
837C>T |
Ala279Ala |
M0014280 |
LCAFDHBH_00013 |
14262 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
852A>G |
Glu284Glu |
M0014281 |
LCAFDHBH_00013 |
14331 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
921G>A |
Gln307Gln |
M0014282 |
LCAFDHBH_00013 |
14337 |
7 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
927C>T |
Asn309Asn |
M0014283 |
LCAFDHBH_00011 |
15364 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3070G>A |
None |
M0014284 |
LCAFDHBH_00011 |
15516 |
11 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3222G>A |
None |
M0014285 |
LCAFDHBH_00011 |
15520 |
11 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3226T>C |
None |
M0014286 |
LCAFDHBH_00011 |
15521 |
11 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3227T>C |
None |
M0014287 |
LCAFDHBH_00011 |
15522 |
11 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3228T>C |
None |
M0014288 |
LCAFDHBH_00011 |
15523 |
11 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3229T>C |
None |
M0014289 |
LCAFDHBH_00011 |
15566 |
9 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3272G>A |
None |
M0014290 |
LCAFDHBH_00011 |
16034 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3740G>A |
None |
M0014291 |
LCAFDHBH_00011 |
16035 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3741G>A |
None |
M0014292 |
LCAFDHBH_00011 |
16037 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3743C>G |
None |
M0014293 |
LCAFDHBH_00011 |
16043 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3749C>T |
None |
M0014294 |
LCAFDHBH_00011 |
16046 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3752A>C |
None |
M0014295 |
LCAFDHBH_00011 |
16047 |
9 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3753A>C |
None |
M0014296 |
LCAFDHBH_00011 |
16049 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3755G>C |
None |
M0014297 |
LCAFDHBH_00011 |
16055 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3761G>A |
None |
M0014298 |
LCAFDHBH_00011 |
16058 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3764G>A |
None |
M0014299 |
LCAFDHBH_00011 |
16127 |
9 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3833A>G |
None |
M0014300 |
LCAFDHBH_00011 |
16136 |
11 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3842A>G |
None |
M0014301 |
LCAFDHBH_00011 |
16155 |
9 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3861A>G |
None |
M0014302 |
LCAFDHBH_00011 |
16160 |
9 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3866G>C |
None |
M0014303 |
LCAFDHBH_00005 |
4920 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
588C>T |
Ala196Ala |
M0014304 |
LCAFDHBH_00005 |
5186 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
322C>T |
Leu108Leu |
M0014305 |
LCAFDHBH_00005 |
5220 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
288C>T |
Asp96Asp |
M0014306 |
LCAFDHBH_00005 |
5245 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
263A>G |
His88Arg |
M0014307 |
LCAFDHBH_00005 |
5262 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
246A>G |
Arg82Arg |
M0014308 |
LCAFDHBH_00005 |
5271 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
237C>A |
Ala79Ala |
M0014309 |
LCAFDHBH_00013 |
13545 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
135G>C |
Ala45Ala |
M0014310 |
LCAFDHBH_00013 |
13548 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
138G>C |
Leu46Leu |
M0014311 |
LCAFDHBH_00013 |
13551 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
141G>A |
Lys47Lys |
M0014312 |
LCAFDHBH_00013 |
13552 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
142T>C |
Leu48Leu |
M0014313 |
LCAFDHBH_00013 |
13554 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
144G>C |
Leu48Phe |
M0014314 |
LCAFDHBH_00013 |
13557 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
147T>C |
Gly49Gly |
M0014315 |
LCAFDHBH_00013 |
13560 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
150G>C |
Leu50Leu |
M0014316 |
LCAFDHBH_00013 |
13730 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
320G>A |
Gly107Glu |
M0014317 |
LCAFDHBH_00013 |
14340 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
930C>G |
Thr310Thr |
M0014318 |
LCAFDHBH_00014 |
15306 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
732C>T |
Leu244Leu |
M0014319 |
LCAFDHBH_00014 |
15312 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
738T>C |
Gly246Gly |
M0014320 |
LCAFDHBH_00011 |
15353 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3059A>G |
None |
M0014321 |
LCAFDHBH_00011 |
15488 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3194G>A |
None |
M0014322 |
LCAFDHBH_00011 |
15515 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3221C>G |
None |
M0014323 |
LCAFDHBH_00011 |
15533 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3239C>G |
None |
M0014324 |
LCAFDHBH_00011 |
15866 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3572G>A |
None |
M0014325 |
LCAFDHBH_00011 |
15913 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3619C>G |
None |
M0014326 |
LCAFDHBH_00011 |
15917 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3623C>G |
None |
M0014327 |
LCAFDHBH_00011 |
16108 |
7 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3814C>T |
None |
M0014328 |
LCAFDHBH_00011 |
16181 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3887A>G |
None |
M0014329 |
LCAFDHBH_00011 |
15392 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3098G>C |
None |
M0014330 |
LCAFDHBH_00011 |
15393 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3099G>A |
None |
M0014331 |
LCAFDHBH_00011 |
16029 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3735G>T |
None |
M0014332 |
LCAFDHBH_00011 |
16079 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3785C>G |
None |
M0014333 |
LCAFDHBH_00011 |
16082 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3788A>G |
None |
M0014334 |
LCAFDHBH_00011 |
16103 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3809G>A |
None |
M0014335 |
LCAFDHBH_00011 |
16107 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3813G>T |
None |
M0014336 |
LCAFDHBH_00011 |
16262 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3968G>C |
None |
M0014337 |
LCAFDHBH_00011 |
16358 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4064G>C |
None |
M0014338 |
LCAFDHBH_00011 |
16361 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4067C>G |
None |
M0014339 |
LCAFDHBH_00011 |
16362 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4068G>T |
None |
M0014340 |
LCAFDHBH_00011 |
16363 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4069C>T |
None |
M0014341 |
LCAFDHBH_00011 |
16319 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4025T>C |
None |
M0014342 |
LCAFDHBH_00011 |
16325 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4031C>G |
None |
M0014343 |
LCAFDHBH_00011 |
16330 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4036T>G |
None |
M0014344 |
LCAFDHBH_00011 |
16331 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4037T>G |
None |
M0014345 |
LCAFDHBH_00011 |
16352 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4058A>G |
None |
M0014346 |
LCAFDHBH_00007 |
7820 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
780A>C |
Ala260Ala |
M0014347 |
LCAFDHBH_00007 |
7850 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
810G>A |
Glu270Glu |
M0014348 |
LCAFDHBH_00007 |
7886 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
846G>C |
Ala282Ala |
M0014349 |
LCAFDHBH_00007 |
7940 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
900C>T |
Asp300Asp |
M0014350 |
LCAFDHBH_00007 |
7952 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
912C>T |
Tyr304Tyr |
M0014351 |
LCAFDHBH_00007 |
7976 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
936G>C |
Gly312Gly |
M0014352 |
LCAFDHBH_00007 |
8002 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
962A>C |
Lys321Thr |
M0014353 |
LCAFDHBH_00009 |
9705 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
544T>C |
Leu182Leu |
M0014354 |
LCAFDHBH_00009 |
9776 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
615G>A |
Lys205Lys |
M0014355 |
LCAFDHBH_00009 |
9785 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
624A>G |
Glu208Glu |
M0014356 |
LCAFDHBH_00006 |
6823 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
75C>G |
Ala25Ala |
M0014357 |
LCAFDHBH_00007 |
8291 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1251G>C |
Thr417Thr |
M0014358 |
LCAFDHBH_00009 |
9629 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
468C>T |
Gly156Gly |
M0014359 |
LCAFDHBH_00009 |
9638 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
477G>C |
Arg159Arg |
M0014360 |
LCAFDHBH_00009 |
9644 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
483G>A |
Lys161Lys |
M0014361 |
LCAFDHBH_00013 |
14448 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1038G>A |
Val346Val |
M0014362 |
LCAFDHBH_00013 |
13722 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
312G>A |
Glu104Glu |
M0014363 |
LCAFDHBH_00013 |
13737 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
327G>T |
Val109Val |
Analysis of virulence factors contributing to bacterial pathogenicity
This table presents virulence factors identified within the plasmid cluster.
Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.
Gene Name |
vf_gene_id |
vf_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
vf_category |
gene_description |
condition |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
Gene Name |
cazy_id |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |