Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C811 |
Reference Plasmid |
NZ_CP066374.1 |
Reference Plasmid Size |
45209 |
Reference Plasmid GC Content |
0.30 |
Reference Plasmid Mobility Type |
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 |
M0102078 |
HEOAAKAD_00009 |
9840 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
234A>G |
Glu78Glu |
M0102079 |
HEOAAKAD_00013 |
11375 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
2962A>G |
Ile988Val |
M0102080 |
HEOAAKAD_00013 |
11398 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
2939G>A |
Arg980Lys |
M0102081 |
HEOAAKAD_00013 |
11512 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
2825A>G |
Asp942Gly |
M0102082 |
HEOAAKAD_00013 |
11824 |
11 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
2513A>C |
Asp838Ala |
M0102083 |
HEOAAKAD_00013 |
12102 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2235G>A |
Pro745Pro |
M0102084 |
HEOAAKAD_00013 |
12222 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
2115T>G |
His705Gln |
M0102085 |
HEOAAKAD_00013 |
12304 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
2033T>C |
Ile678Thr |
M0102086 |
HEOAAKAD_00013 |
12671 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1666A>C |
Lys556Gln |
M0102087 |
HEOAAKAD_00013 |
12797 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1540G>T |
Ala514Ser |
M0102088 |
HEOAAKAD_00013 |
13014 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1323G>T |
Ala441Ala |
M0102089 |
HEOAAKAD_00013 |
13110 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1227A>G |
Gly409Gly |
M0102090 |
HEOAAKAD_00013 |
13176 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1161C>T |
Asp387Asp |
M0102091 |
HEOAAKAD_00013 |
13838 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
499A>G |
Lys167Glu |
M0102092 |
HEOAAKAD_00013 |
14027 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
310T>G |
Leu104Val |
M0102093 |
HEOAAKAD_00013 |
14090 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
247A>G |
Asn83Asp |
M0102094 |
HEOAAKAD_00013 |
14168 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
169A>G |
Ile57Val |
M0102095 |
HEOAAKAD_00013 |
14295 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
42C>T |
Asp14Asp |
M0102096 |
HEOAAKAD_00014 |
14585 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
2300T>G |
Ile767Ser |
M0102097 |
HEOAAKAD_00014 |
14626 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2259A>C |
Thr753Thr |
M0102098 |
HEOAAKAD_00014 |
14650 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
2235A>G |
Lys745Lys |
M0102099 |
HEOAAKAD_00014 |
14668 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
2217T>C |
His739His |
M0102100 |
HEOAAKAD_00014 |
14701 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
2184T>C |
Asn728Asn |
M0102101 |
HEOAAKAD_00014 |
14719 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
2166T>C |
Asp722Asp |
M0102102 |
HEOAAKAD_00014 |
14720 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
2165A>G |
Asp722Gly |
M0102103 |
HEOAAKAD_00014 |
14779 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
2106C>T |
His702His |
M0102104 |
HEOAAKAD_00014 |
14782 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
2103C>T |
Val701Val |
M0102105 |
HEOAAKAD_00014 |
14808 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
2077A>G |
Ile693Val |
M0102106 |
HEOAAKAD_00014 |
14884 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
2001C>T |
Pro667Pro |
M0102107 |
HEOAAKAD_00014 |
15001 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1884C>T |
Thr628Thr |
M0102108 |
HEOAAKAD_00014 |
15040 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1845C>T |
Gly615Gly |
M0102109 |
HEOAAKAD_00014 |
15055 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1830G>A |
Ala610Ala |
M0102110 |
HEOAAKAD_00014 |
15093 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1792C>T |
Leu598Leu |
M0102111 |
HEOAAKAD_00014 |
15094 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1791T>A |
Ser597Ser |
M0102112 |
HEOAAKAD_00014 |
15121 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1764T>C |
Asn588Asn |
M0102113 |
HEOAAKAD_00014 |
15127 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1758G>A |
Gly586Gly |
M0102114 |
HEOAAKAD_00014 |
15187 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1698C>T |
Asp566Asp |
M0102115 |
HEOAAKAD_00014 |
15223 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1662C>T |
Asn554Asn |
M0102116 |
HEOAAKAD_00014 |
15241 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1644A>G |
Ser548Ser |
M0102117 |
HEOAAKAD_00014 |
15244 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1641C>T |
Ala547Ala |
M0102118 |
HEOAAKAD_00014 |
15373 |
10 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
1512A>C |
Gln504His |
M0102119 |
HEOAAKAD_00014 |
15694 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1191A>G |
Ser397Ser |
M0102120 |
HEOAAKAD_00014 |
16159 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
726C>T |
Asn242Asn |
M0102121 |
HEOAAKAD_00014 |
16879 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
6C>A |
Asp2Glu |
M0102122 |
HEOAAKAD_00015 |
16991 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
883G>T |
Ala295Ser |
M0102123 |
HEOAAKAD_00015 |
17309 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
565G>T |
Ala189Ser |
M0102124 |
HEOAAKAD_00015 |
17475 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
399G>A |
Ser133Ser |
M0102125 |
HEOAAKAD_00016 |
18004 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1989C>T |
Gly663Gly |
M0102126 |
HEOAAKAD_00016 |
18018 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1975A>G |
Ile659Val |
M0102127 |
HEOAAKAD_00016 |
18022 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1971C>T |
Ser657Ser |
M0102128 |
HEOAAKAD_00016 |
18054 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1939A>C |
Ile647Leu |
M0102129 |
HEOAAKAD_00016 |
18057 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1936G>A |
Gly646Ser |
M0102130 |
HEOAAKAD_00016 |
18178 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1815C>T |
Asn605Asn |
M0102131 |
HEOAAKAD_00016 |
18385 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1608G>A |
Lys536Lys |
M0102132 |
HEOAAKAD_00016 |
18457 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1536A>G |
Glu512Glu |
M0102133 |
HEOAAKAD_00016 |
18554 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1439C>T |
Ser480Phe |
M0102134 |
HEOAAKAD_00016 |
18558 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
1435C>A |
Leu479Ile |
M0102135 |
HEOAAKAD_00016 |
18565 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1428C>T |
Asp476Asp |
M0102136 |
HEOAAKAD_00016 |
18568 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1425A>C |
Ile475Ile |
M0102137 |
HEOAAKAD_00016 |
18579 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1414G>A |
Val472Ile |
M0102138 |
HEOAAKAD_00016 |
18592 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1401C>T |
Asp467Asp |
M0102139 |
HEOAAKAD_00016 |
18669 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1324G>A |
Asp442Asn |
M0102140 |
HEOAAKAD_00016 |
18681 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1312T>G |
Phe438Val |
M0102141 |
HEOAAKAD_00016 |
18736 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1257G>A |
Leu419Leu |
M0102142 |
HEOAAKAD_00016 |
18742 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1251T>C |
Asp417Asp |
M0102143 |
HEOAAKAD_00016 |
18745 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1248G>A |
Gln416Gln |
M0102144 |
HEOAAKAD_00001 |
64 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-21T>C |
None |
M0102145 |
HEOAAKAD_00001 |
65 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-20A>T |
None |
M0102146 |
HEOAAKAD_00001 |
74 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-11A>T |
None |
M0102147 |
HEOAAKAD_00001 |
177 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
93C>T |
Phe31Phe |
M0102148 |
HEOAAKAD_00001 |
181 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
97C>A |
His33Asn |
M0102149 |
HEOAAKAD_00001 |
195 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
111G>A |
Glu37Glu |
M0102150 |
HEOAAKAD_00001 |
196 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
112T>G |
Phe38Val |
M0102151 |
HEOAAKAD_00001 |
207 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
123C>T |
Ser41Ser |
M0102152 |
HEOAAKAD_00001 |
213 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
129A>T |
Val43Val |
M0102153 |
HEOAAKAD_00001 |
222 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
138G>A |
Lys46Lys |
M0102154 |
HEOAAKAD_00001 |
224 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
140A>G |
Gln47Arg |
M0102155 |
HEOAAKAD_00001 |
228 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
144T>G |
Ala48Ala |
M0102156 |
HEOAAKAD_00001 |
257 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
173A>G |
Asn58Ser |
M0102157 |
HEOAAKAD_00001 |
277 |
5 |
Skin |
0.15 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*16G>A |
None |
M0102158 |
HEOAAKAD_00001 |
341 |
5 |
Skin |
0.15 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*80T>C |
None |
M0102159 |
HEOAAKAD_00001 |
343 |
5 |
Skin |
0.15 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*82C>A |
None |
M0102160 |
HEOAAKAD_00002 |
385 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
584T>C |
Ile195Thr |
M0102161 |
HEOAAKAD_00002 |
447 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
522C>T |
Asn174Asn |
M0102162 |
HEOAAKAD_00002 |
453 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
516C>T |
Asp172Asp |
M0102163 |
HEOAAKAD_00002 |
470 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
499C>A |
Gln167Lys |
M0102164 |
HEOAAKAD_00002 |
487 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
482C>T |
Ala161Val |
M0102165 |
HEOAAKAD_00002 |
534 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
435A>T |
Ser145Ser |
M0102166 |
HEOAAKAD_00002 |
654 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
315T>C |
Leu105Leu |
M0102167 |
HEOAAKAD_00002 |
669 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
300G>A |
Leu100Leu |
M0102168 |
HEOAAKAD_00002 |
691 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
278C>T |
Ala93Val |
M0102169 |
HEOAAKAD_00002 |
735 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
234T>C |
Gly78Gly |
M0102170 |
HEOAAKAD_00002 |
749 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
220T>C |
Leu74Leu |
M0102171 |
HEOAAKAD_00002 |
750 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
219C>G |
Thr73Thr |
M0102172 |
HEOAAKAD_00002 |
881 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
88A>G |
Thr30Ala |
M0102173 |
HEOAAKAD_00004 |
1925 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
2818A>C |
Lys940Gln |
M0102174 |
HEOAAKAD_00004 |
2318 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
2425A>C |
Ser809Arg |
M0102175 |
HEOAAKAD_00004 |
2429 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
2314A>T |
Thr772Ser |
M0102176 |
HEOAAKAD_00004 |
2742 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
2001A>G |
Lys667Lys |
M0102177 |
HEOAAKAD_00004 |
2799 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1944A>G |
Ala648Ala |
M0102178 |
HEOAAKAD_00004 |
3051 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1692A>T |
Ser564Ser |
M0102179 |
HEOAAKAD_00004 |
3058 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1685G>A |
Gly562Asp |
M0102180 |
HEOAAKAD_00004 |
3071 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1672A>G |
Asn558Asp |
M0102181 |
HEOAAKAD_00004 |
3126 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1617C>T |
Gly539Gly |
M0102182 |
HEOAAKAD_00004 |
3279 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1464T>A |
Gly488Gly |
M0102183 |
HEOAAKAD_00004 |
3297 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1446G>A |
Ser482Ser |
M0102184 |
HEOAAKAD_00004 |
3537 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1206C>T |
Gly402Gly |
M0102185 |
HEOAAKAD_00004 |
4251 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
492A>C |
Glu164Asp |
M0102186 |
HEOAAKAD_00004 |
4519 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
224T>C |
Val75Ala |
M0102187 |
HEOAAKAD_00004 |
4532 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
211T>G |
Ser71Ala |
M0102188 |
HEOAAKAD_00004 |
4565 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
178G>A |
Asp60Asn |
M0102189 |
HEOAAKAD_00004 |
4669 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
74A>C |
Asn25Thr |
M0102190 |
HEOAAKAD_00002 |
4853 |
8 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3885C>T |
None |
M0102191 |
HEOAAKAD_00002 |
4867 |
8 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3899C>T |
None |
M0102192 |
HEOAAKAD_00005 |
5249 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
669C>T |
Leu223Leu |
M0102193 |
HEOAAKAD_00005 |
5258 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
660T>C |
Asn220Asn |
M0102194 |
HEOAAKAD_00005 |
5360 |
9 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
558T>C |
Asp186Asp |
M0102195 |
HEOAAKAD_00005 |
5384 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
534A>G |
Gln178Gln |
M0102196 |
HEOAAKAD_00005 |
5464 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
454G>A |
Gly152Ser |
M0102197 |
HEOAAKAD_00005 |
5504 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
414C>T |
Gly138Gly |
M0102198 |
HEOAAKAD_00005 |
5654 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
264C>A |
Thr88Thr |
M0102199 |
HEOAAKAD_00005 |
5837 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
81T>C |
Leu27Leu |
M0102200 |
HEOAAKAD_00006 |
5968 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
678T>C |
Asp226Asp |
M0102201 |
HEOAAKAD_00006 |
6004 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
642T>G |
Asn214Lys |
M0102202 |
HEOAAKAD_00047 |
38528 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
333G>A |
Ala111Ala |
M0102203 |
HEOAAKAD_00047 |
39989 |
9 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1794A>G |
Lys598Lys |
M0102204 |
HEOAAKAD_00047 |
40178 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1983T>C |
Asp661Asp |
M0102205 |
HEOAAKAD_00047 |
40235 |
9 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
2040G>A |
Glu680Glu |
M0102206 |
HEOAAKAD_00047 |
40368 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
2173T>A |
Ser725Thr |
M0102207 |
HEOAAKAD_00048 |
40608 |
9 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
237A>T |
Ile79Ile |
M0102208 |
HEOAAKAD_00048 |
40683 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Tyr104Tyr |
M0102209 |
HEOAAKAD_00048 |
40688 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
317T>C |
Val106Ala |
M0102210 |
HEOAAKAD_00048 |
40692 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
321T>C |
Ile107Ile |
M0102211 |
HEOAAKAD_00048 |
40728 |
9 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
357A>G |
Ala119Ala |
M0102212 |
HEOAAKAD_00049 |
41096 |
9 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
216A>G |
Leu72Leu |
M0102213 |
HEOAAKAD_00049 |
41117 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
237G>A |
Arg79Arg |
M0102214 |
HEOAAKAD_00049 |
41154 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
274A>G |
Asn92Asp |
M0102215 |
HEOAAKAD_00049 |
41186 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
306T>C |
Gly102Gly |
M0102216 |
HEOAAKAD_00049 |
41201 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
321A>T |
Ser107Ser |
M0102217 |
HEOAAKAD_00049 |
41547 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
667G>A |
Val223Ile |
M0102218 |
HEOAAKAD_00049 |
41606 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
726A>G |
Glu242Glu |
M0102219 |
HEOAAKAD_00050 |
41957 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
156T>C |
Val52Val |
M0102220 |
HEOAAKAD_00050 |
41969 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
168T>G |
Ile56Met |
M0102221 |
HEOAAKAD_00051 |
42308 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
184G>A |
Asp62Asn |
M0102222 |
HEOAAKAD_00051 |
42452 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
328C>A |
Leu110Ile |
M0102223 |
HEOAAKAD_00051 |
42478 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
354A>T |
Gly118Gly |
M0102224 |
HEOAAKAD_00051 |
42541 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
417A>G |
Glu139Glu |
M0102225 |
HEOAAKAD_00051 |
42618 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
494A>G |
Asn165Ser |
M0102226 |
HEOAAKAD_00051 |
43109 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
985G>C |
Gly329Arg |
M0102227 |
HEOAAKAD_00051 |
43126 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1002A>G |
Glu334Glu |
M0102228 |
HEOAAKAD_00051 |
43277 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1153A>G |
Thr385Ala |
M0102229 |
HEOAAKAD_00051 |
43424 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1300A>G |
Asn434Asp |
M0102230 |
HEOAAKAD_00051 |
43624 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1500C>T |
Arg500Arg |
M0102231 |
HEOAAKAD_00051 |
44095 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1971A>C |
Ala657Ala |
M0102232 |
HEOAAKAD_00051 |
44212 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
2088A>G |
Lys696Lys |
M0102233 |
HEOAAKAD_00051 |
44362 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
2238G>A |
Lys746Lys |
M0102234 |
HEOAAKAD_00051 |
44434 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
2310G>A |
Glu770Glu |
M0102235 |
HEOAAKAD_00051 |
44523 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
2399G>A |
Arg800Lys |
M0102236 |
HEOAAKAD_00051 |
44529 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
2405C>T |
Ser802Phe |
M0102237 |
HEOAAKAD_00051 |
44538 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
2414G>A |
Arg805Lys |
M0102238 |
HEOAAKAD_00051 |
44542 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
2418T>C |
Asp806Asp |
M0102239 |
HEOAAKAD_00052 |
44606 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-59C>A |
None |
M0102240 |
HEOAAKAD_00052 |
44607 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-58A>T |
None |
M0102241 |
HEOAAKAD_00052 |
44608 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-57C>A |
None |
M0102242 |
HEOAAKAD_00052 |
44636 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-29T>C |
None |
M0102243 |
HEOAAKAD_00052 |
44712 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
48T>A |
Leu16Leu |
M0102244 |
HEOAAKAD_00052 |
44775 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Tyr37Tyr |
M0102245 |
HEOAAKAD_00052 |
44787 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
123C>T |
Ser41Ser |
M0102246 |
HEOAAKAD_00052 |
44826 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
162A>G |
Thr54Thr |
M0102247 |
HEOAAKAD_00052 |
44868 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
204C>T |
Thr68Thr |
M0102248 |
HEOAAKAD_00052 |
44919 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
255C>A |
Leu85Leu |
M0102249 |
HEOAAKAD_00052 |
44988 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
324C>T |
Phe108Phe |
M0102250 |
HEOAAKAD_00052 |
45006 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
342T>C |
His114His |
M0102251 |
HEOAAKAD_00019 |
21267 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
336T>C |
His112His |
M0102252 |
HEOAAKAD_00019 |
21276 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
327C>T |
Asp109Asp |
M0102253 |
HEOAAKAD_00019 |
21305 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
298C>A |
Leu100Ile |
M0102254 |
HEOAAKAD_00019 |
21339 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
264C>T |
Asp88Asp |
M0102255 |
HEOAAKAD_00019 |
21350 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
253C>T |
Leu85Leu |
M0102256 |
HEOAAKAD_00019 |
21366 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
237C>A |
Gly79Gly |
M0102257 |
HEOAAKAD_00019 |
21405 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
198C>A |
Asp66Glu |
M0102258 |
HEOAAKAD_00019 |
21426 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
177T>A |
Ala59Ala |
M0102259 |
HEOAAKAD_00019 |
21471 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
132G>T |
Ser44Ser |
M0102260 |
HEOAAKAD_00019 |
21507 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
96A>G |
Lys32Lys |
M0102261 |
HEOAAKAD_00019 |
21510 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Asn31Asn |
M0102262 |
HEOAAKAD_00019 |
21516 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
87G>A |
Leu29Leu |
M0102263 |
HEOAAKAD_00019 |
21561 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
42T>C |
Cys14Cys |
M0102264 |
HEOAAKAD_00019 |
21569 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
34G>A |
Val12Ile |
M0102265 |
HEOAAKAD_00019 |
21591 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
12A>G |
Lys4Lys |
M0102266 |
HEOAAKAD_00014 |
21604 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4720A>T |
None |
M0102267 |
HEOAAKAD_00014 |
21606 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4722C>A |
None |
M0102268 |
HEOAAKAD_00020 |
21628 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
390T>A |
Asn130Lys |
M0102269 |
HEOAAKAD_00020 |
21667 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
351C>T |
Gly117Gly |
M0102270 |
HEOAAKAD_00020 |
21703 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
315G>A |
Pro105Pro |
M0102271 |
HEOAAKAD_00020 |
21772 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
246G>A |
Lys82Lys |
M0102272 |
HEOAAKAD_00020 |
21904 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
114A>G |
Arg38Arg |
M0102273 |
HEOAAKAD_00015 |
22055 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4182T>C |
None |
M0102274 |
HEOAAKAD_00015 |
22066 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4193G>T |
None |
M0102275 |
HEOAAKAD_00015 |
22087 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4214G>A |
None |
M0102276 |
HEOAAKAD_00015 |
22112 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4239C>T |
None |
M0102277 |
HEOAAKAD_00021 |
22133 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
204T>A |
Ile68Ile |
M0102278 |
HEOAAKAD_00021 |
22142 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
195C>T |
Ser65Ser |
M0102279 |
HEOAAKAD_00021 |
22157 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
180C>T |
Thr60Thr |
M0102280 |
HEOAAKAD_00021 |
22163 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
174G>A |
Lys58Lys |
M0102281 |
HEOAAKAD_00021 |
22173 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
164T>C |
Ile55Thr |
M0102282 |
HEOAAKAD_00021 |
22181 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
156T>C |
Ser52Ser |
M0102283 |
HEOAAKAD_00021 |
22256 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
81A>G |
Lys27Lys |
M0102284 |
HEOAAKAD_00021 |
22280 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
57A>G |
Val19Val |
M0102285 |
HEOAAKAD_00021 |
22286 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
51G>A |
Gln17Gln |
M0102286 |
HEOAAKAD_00022 |
22358 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
999A>T |
Gly333Gly |
M0102287 |
HEOAAKAD_00022 |
22371 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
986G>A |
Ser329Asn |
M0102288 |
HEOAAKAD_00022 |
22373 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
984G>A |
Gln328Gln |
M0102289 |
HEOAAKAD_00022 |
22375 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
982C>A |
Gln328Lys |
M0102290 |
HEOAAKAD_00022 |
22378 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
979T>A |
Ser327Thr |
M0102291 |
HEOAAKAD_00023 |
23929 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
4C>T |
Leu2Leu |
M0102292 |
HEOAAKAD_00023 |
23949 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
24C>T |
Ile8Ile |
M0102293 |
HEOAAKAD_00023 |
24033 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
108C>A |
Val36Val |
M0102294 |
HEOAAKAD_00023 |
24075 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
150C>T |
Asn50Asn |
M0102295 |
HEOAAKAD_00023 |
24156 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
231G>A |
Arg77Arg |
M0102296 |
HEOAAKAD_00023 |
24168 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
243T>C |
Phe81Phe |
M0102297 |
HEOAAKAD_00023 |
24186 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
261A>T |
Lys87Asn |
M0102298 |
HEOAAKAD_00023 |
24267 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
342G>A |
Leu114Leu |
M0102299 |
HEOAAKAD_00023 |
24289 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
364G>A |
Glu122Lys |
M0102300 |
HEOAAKAD_00023 |
24360 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
435C>T |
Asn145Asn |
M0102301 |
HEOAAKAD_00023 |
24411 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
486A>C |
Ile162Ile |
M0102302 |
HEOAAKAD_00024 |
24836 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
69A>G |
Lys23Lys |
M0102303 |
HEOAAKAD_00017 |
25052 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4620C>A |
None |
M0102304 |
HEOAAKAD_00017 |
25053 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4621C>A |
None |
M0102305 |
HEOAAKAD_00017 |
25056 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4624T>C |
None |
M0102306 |
HEOAAKAD_00017 |
25069 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4637G>A |
None |
M0102307 |
HEOAAKAD_00026 |
25470 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
124G>A |
Val42Ile |
M0102308 |
HEOAAKAD_00026 |
25477 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
131A>G |
Lys44Arg |
M0102309 |
HEOAAKAD_00026 |
25478 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
132G>A |
Lys44Lys |
M0102310 |
HEOAAKAD_00026 |
25481 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
135C>T |
Val45Val |
M0102311 |
HEOAAKAD_00026 |
25490 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
144A>G |
Leu48Leu |
M0102312 |
HEOAAKAD_00018 |
25527 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4811C>T |
None |
M0102313 |
HEOAAKAD_00018 |
25531 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4815T>A |
None |
M0102314 |
HEOAAKAD_00018 |
25535 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4819T>A |
None |
M0102315 |
HEOAAKAD_00018 |
25545 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4829A>T |
None |
M0102316 |
HEOAAKAD_00018 |
25551 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4835G>A |
None |
M0102317 |
HEOAAKAD_00027 |
25624 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
60C>A |
Val20Val |
M0102318 |
HEOAAKAD_00027 |
25699 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
135C>T |
Asp45Asp |
M0102319 |
HEOAAKAD_00027 |
25711 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
147A>T |
Lys49Asn |
M0102320 |
HEOAAKAD_00028 |
25904 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
78A>C |
Gly26Gly |
M0102321 |
HEOAAKAD_00028 |
25907 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
81C>A |
Leu27Leu |
M0102322 |
HEOAAKAD_00028 |
25935 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
109A>G |
Lys37Glu |
M0102323 |
HEOAAKAD_00028 |
26012 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
186G>T |
Ala62Ala |
M0102324 |
HEOAAKAD_00028 |
26014 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
188C>T |
Thr63Ile |
M0102325 |
HEOAAKAD_00028 |
26090 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
264C>T |
Asp88Asp |
M0102326 |
HEOAAKAD_00028 |
26127 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
301C>A |
Gln101Lys |
M0102327 |
HEOAAKAD_00028 |
26146 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
320G>A |
Arg107Lys |
M0102328 |
HEOAAKAD_00028 |
26157 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
331G>T |
Ala111Ser |
M0102329 |
HEOAAKAD_00028 |
26270 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
444A>C |
Gly148Gly |
M0102330 |
HEOAAKAD_00028 |
26366 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
540T>A |
Val180Val |
M0102331 |
HEOAAKAD_00028 |
26416 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
590C>A |
Thr197Lys |
M0102332 |
HEOAAKAD_00028 |
26474 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
648G>A |
Glu216Glu |
M0102333 |
HEOAAKAD_00028 |
26513 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
687T>C |
Ala229Ala |
M0102334 |
HEOAAKAD_00028 |
26532 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
706C>A |
Gln236Lys |
M0102335 |
HEOAAKAD_00028 |
26534 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
708A>T |
Gln236His |
M0102336 |
HEOAAKAD_00028 |
26537 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
711C>A |
Val237Val |
M0102337 |
HEOAAKAD_00019 |
26572 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4970T>A |
None |
M0102338 |
HEOAAKAD_00019 |
26574 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4972T>C |
None |
M0102339 |
HEOAAKAD_00019 |
26576 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4974C>A |
None |
M0102340 |
HEOAAKAD_00019 |
26590 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4988T>A |
None |
M0102341 |
HEOAAKAD_00020 |
26607 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4590A>T |
None |
M0102342 |
HEOAAKAD_00020 |
26611 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4594G>T |
None |
M0102343 |
HEOAAKAD_00020 |
26628 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4611T>G |
None |
M0102344 |
HEOAAKAD_00020 |
26629 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4612T>C |
None |
M0102345 |
HEOAAKAD_00020 |
26660 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4643C>A |
None |
M0102346 |
HEOAAKAD_00020 |
26683 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4666C>T |
None |
M0102347 |
HEOAAKAD_00020 |
26708 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4691A>C |
None |
M0102348 |
HEOAAKAD_00020 |
26722 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4705G>A |
None |
M0102349 |
HEOAAKAD_00029 |
26776 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
21G>A |
Gly7Gly |
M0102350 |
HEOAAKAD_00029 |
26818 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
63A>G |
Gly21Gly |
M0102351 |
HEOAAKAD_00001 |
56 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-29G>A |
None |
M0102352 |
HEOAAKAD_00002 |
528 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
441T>A |
Gly147Gly |
M0102353 |
HEOAAKAD_00002 |
617 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
352A>G |
Asn118Asp |
M0102354 |
HEOAAKAD_00002 |
666 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
303C>T |
Tyr101Tyr |
M0102355 |
HEOAAKAD_00002 |
681 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
288C>T |
Tyr96Tyr |
M0102356 |
HEOAAKAD_00002 |
711 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
258T>C |
Gly86Gly |
M0102357 |
HEOAAKAD_00003 |
1235 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
27A>G |
Thr9Thr |
M0102358 |
HEOAAKAD_00004 |
2162 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
2581G>A |
Asp861Asn |
M0102359 |
HEOAAKAD_00004 |
2526 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
2217C>T |
Asn739Asn |
M0102360 |
HEOAAKAD_00004 |
3264 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1479C>T |
His493His |
M0102361 |
HEOAAKAD_00004 |
3360 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1383C>T |
Ala461Ala |
M0102362 |
HEOAAKAD_00004 |
3417 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1326C>T |
Gly442Gly |
M0102363 |
HEOAAKAD_00004 |
3441 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1302T>G |
Ser434Ser |
M0102364 |
HEOAAKAD_00004 |
3468 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1275C>T |
Ser425Ser |
M0102365 |
HEOAAKAD_00004 |
4254 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
489G>A |
Lys163Lys |
M0102366 |
HEOAAKAD_00004 |
4277 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
466G>T |
Ala156Ser |
M0102367 |
HEOAAKAD_00004 |
4283 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
460A>G |
Ile154Val |
M0102368 |
HEOAAKAD_00004 |
4290 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
453C>T |
Val151Val |
M0102369 |
HEOAAKAD_00004 |
4295 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
448A>G |
Lys150Glu |
M0102370 |
HEOAAKAD_00004 |
4301 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
442A>G |
Lys148Glu |
M0102371 |
HEOAAKAD_00004 |
4307 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
436G>T |
Ala146Ser |
M0102372 |
HEOAAKAD_00004 |
4308 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
435G>A |
Glu145Glu |
M0102373 |
HEOAAKAD_00004 |
4318 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
425A>C |
Asp142Ala |
M0102374 |
HEOAAKAD_00004 |
4359 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
384A>G |
Lys128Lys |
M0102375 |
HEOAAKAD_00004 |
4380 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
363G>A |
Glu121Glu |
M0102376 |
HEOAAKAD_00004 |
4384 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
359C>A |
Thr120Lys |
M0102377 |
HEOAAKAD_00004 |
4467 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
276T>C |
Asn92Asn |
M0102378 |
HEOAAKAD_00004 |
4469 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
274A>G |
Asn92Asp |
M0102379 |
HEOAAKAD_00004 |
4535 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
208A>C |
Lys70Gln |
M0102380 |
HEOAAKAD_00004 |
4536 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
207G>T |
Lys69Asn |
M0102381 |
HEOAAKAD_00004 |
4545 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
198A>G |
Lys66Lys |
M0102382 |
HEOAAKAD_00005 |
5120 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
798A>G |
Lys266Lys |
M0102383 |
HEOAAKAD_00005 |
5516 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
402G>T |
Pro134Pro |
M0102384 |
HEOAAKAD_00006 |
6118 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
528C>T |
Ser176Ser |
M0102385 |
HEOAAKAD_00006 |
6148 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
498C>A |
Gly166Gly |
M0102386 |
HEOAAKAD_00006 |
6187 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
459G>A |
Gly153Gly |
M0102387 |
HEOAAKAD_00006 |
6505 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
141A>G |
Lys47Lys |
M0102388 |
HEOAAKAD_00006 |
6555 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
91A>G |
Ser31Gly |
M0102389 |
HEOAAKAD_00006 |
6559 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
87G>A |
Gln29Gln |
M0102390 |
HEOAAKAD_00006 |
6571 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
75T>C |
Ile25Ile |
M0102391 |
HEOAAKAD_00006 |
6600 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
46A>G |
Ile16Val |
M0102392 |
HEOAAKAD_00006 |
6609 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
37G>A |
Val13Ile |
M0102393 |
HEOAAKAD_00006 |
6612 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
34A>G |
Ile12Val |
M0102394 |
HEOAAKAD_00006 |
6641 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
5G>A |
Arg2Lys |
M0102395 |
HEOAAKAD_00007 |
6703 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1062A>C |
Ile354Ile |
M0102396 |
HEOAAKAD_00007 |
6817 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
948T>G |
Gly316Gly |
M0102397 |
HEOAAKAD_00007 |
7159 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
606G>A |
Lys202Lys |
M0102398 |
HEOAAKAD_00007 |
7168 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
597T>C |
Asp199Asp |
M0102399 |
HEOAAKAD_00008 |
7800 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1923G>T |
Thr641Thr |
M0102400 |
HEOAAKAD_00008 |
8136 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1587A>C |
Ile529Ile |
M0102401 |
HEOAAKAD_00008 |
8700 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1023T>C |
Gly341Gly |
M0102402 |
HEOAAKAD_00008 |
9540 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
183T>C |
Pro61Pro |
M0102403 |
HEOAAKAD_00008 |
9630 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
93A>T |
Leu31Leu |
M0102404 |
HEOAAKAD_00013 |
11406 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
2931G>T |
Thr977Thr |
M0102405 |
HEOAAKAD_00013 |
11556 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
2781A>G |
Thr927Thr |
M0102406 |
HEOAAKAD_00013 |
12456 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1881T>A |
Leu627Leu |
M0102407 |
HEOAAKAD_00013 |
12491 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1846G>A |
Gly616Ser |
M0102408 |
HEOAAKAD_00013 |
12494 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1843T>C |
Ser615Pro |
M0102409 |
HEOAAKAD_00014 |
14502 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
2383A>G |
Asn795Asp |
M0102410 |
HEOAAKAD_00014 |
15370 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1515A>T |
Arg505Ser |
M0102411 |
HEOAAKAD_00016 |
18767 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1226A>G |
Asn409Ser |
M0102412 |
HEOAAKAD_00016 |
18825 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1168G>A |
Asp390Asn |
M0102413 |
HEOAAKAD_00016 |
19196 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
797C>A |
Thr266Asn |
M0102414 |
HEOAAKAD_00016 |
19202 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
791G>A |
Ser264Asn |
M0102415 |
HEOAAKAD_00016 |
19258 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
735C>A |
Asp245Glu |
M0102416 |
HEOAAKAD_00016 |
19346 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
647T>C |
Phe216Ser |
M0102417 |
HEOAAKAD_00016 |
19707 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
286C>T |
Leu96Leu |
M0102418 |
HEOAAKAD_00016 |
19726 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
267G>A |
Thr89Thr |
M0102419 |
HEOAAKAD_00016 |
19837 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
156T>C |
Asp52Asp |
M0102420 |
HEOAAKAD_00016 |
19861 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
132A>G |
Ala44Ala |
M0102421 |
HEOAAKAD_00018 |
20657 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
60C>T |
Asn20Asn |
M0102422 |
HEOAAKAD_00029 |
27271 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
516T>C |
Gly172Gly |
M0102423 |
HEOAAKAD_00046 |
36823 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
7G>A |
Glu3Lys |
M0102424 |
HEOAAKAD_00046 |
36826 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
10C>A |
Gln4Lys |
M0102425 |
HEOAAKAD_00046 |
36917 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
101A>C |
Lys34Thr |
M0102426 |
HEOAAKAD_00046 |
36930 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
114G>A |
Lys38Lys |
M0102427 |
HEOAAKAD_00046 |
36934 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
118G>A |
Asp40Asn |
M0102428 |
HEOAAKAD_00046 |
36939 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
123A>T |
Val41Val |
M0102429 |
HEOAAKAD_00046 |
36945 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
129A>G |
Lys43Lys |
M0102430 |
HEOAAKAD_00046 |
36946 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
130A>C |
Thr44Pro |
M0102431 |
HEOAAKAD_00046 |
36955 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
139A>G |
Lys47Glu |
M0102432 |
HEOAAKAD_00046 |
36958 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
142G>A |
Asp48Asn |
M0102433 |
HEOAAKAD_00046 |
37001 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
185A>G |
Lys62Arg |
M0102434 |
HEOAAKAD_00046 |
37050 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
234A>G |
Thr78Thr |
M0102435 |
HEOAAKAD_00046 |
37053 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
237G>T |
Thr79Thr |
M0102436 |
HEOAAKAD_00046 |
37059 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
243C>T |
Ser81Ser |
M0102437 |
HEOAAKAD_00046 |
37090 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
274A>C |
Lys92Gln |
M0102438 |
HEOAAKAD_00046 |
37101 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Asn95Asn |
M0102439 |
HEOAAKAD_00046 |
37162 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
346G>A |
Val116Ile |
M0102440 |
HEOAAKAD_00046 |
37176 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
360T>C |
Asn120Asn |
M0102441 |
HEOAAKAD_00046 |
37179 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
363A>G |
Gln121Gln |
M0102442 |
HEOAAKAD_00046 |
37183 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
367T>C |
Leu123Leu |
M0102443 |
HEOAAKAD_00046 |
37185 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
369A>T |
Leu123Phe |
M0102444 |
HEOAAKAD_00046 |
37213 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
397T>C |
Leu133Leu |
M0102445 |
HEOAAKAD_00046 |
37233 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
417A>T |
Pro139Pro |
M0102446 |
HEOAAKAD_00046 |
37248 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
432C>T |
Ala144Ala |
M0102447 |
HEOAAKAD_00046 |
37261 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
445A>G |
Ile149Val |
M0102448 |
HEOAAKAD_00046 |
37278 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
462A>G |
Lys154Lys |
M0102449 |
HEOAAKAD_00046 |
37297 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
481A>G |
Asn161Asp |
M0102450 |
HEOAAKAD_00046 |
37300 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
484C>A |
His162Asn |
M0102451 |
HEOAAKAD_00046 |
37350 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
534C>T |
Ile178Ile |
M0102452 |
HEOAAKAD_00046 |
37365 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
549T>C |
Ser183Ser |
M0102453 |
HEOAAKAD_00046 |
37377 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
561T>C |
Asn187Asn |
M0102454 |
HEOAAKAD_00046 |
37421 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
605G>A |
Arg202Lys |
M0102455 |
HEOAAKAD_00046 |
37542 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
726C>A |
Val242Val |
M0102456 |
HEOAAKAD_00046 |
37557 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
741G>A |
Lys247Lys |
M0102457 |
HEOAAKAD_00046 |
37559 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
743A>G |
Asn248Ser |
M0102458 |
HEOAAKAD_00046 |
37560 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
744C>T |
Asn248Asn |
M0102459 |
HEOAAKAD_00046 |
37561 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
745A>G |
Arg249Gly |
M0102460 |
HEOAAKAD_00046 |
37563 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
747A>T |
Arg249Ser |
M0102461 |
HEOAAKAD_00046 |
37611 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
795T>C |
Asp265Asp |
M0102462 |
HEOAAKAD_00046 |
37626 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
810T>A |
Val270Val |
M0102463 |
HEOAAKAD_00046 |
37627 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
811G>A |
Glu271Lys |
M0102464 |
HEOAAKAD_00046 |
37648 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
832G>A |
Glu278Lys |
M0102465 |
HEOAAKAD_00046 |
37672 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
856A>G |
Asn286Asp |
M0102466 |
HEOAAKAD_00046 |
37674 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
858T>A |
Asn286Lys |
M0102467 |
HEOAAKAD_00046 |
37684 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
868G>A |
Val290Ile |
M0102468 |
HEOAAKAD_00046 |
37686 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
870A>T |
Val290Val |
M0102469 |
HEOAAKAD_00046 |
37714 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
898A>G |
Asn300Asp |
M0102470 |
HEOAAKAD_00046 |
38052 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1236G>A |
Leu412Leu |
M0102471 |
HEOAAKAD_00047 |
39227 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1032C>T |
Tyr344Tyr |
M0102472 |
HEOAAKAD_00047 |
39926 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1731C>T |
Asp577Asp |
M0102473 |
HEOAAKAD_00047 |
39935 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1740G>A |
Lys580Lys |
M0102474 |
HEOAAKAD_00047 |
39944 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1749G>A |
Lys583Lys |
M0102475 |
HEOAAKAD_00047 |
39956 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1761A>G |
Gln587Gln |
M0102476 |
HEOAAKAD_00047 |
39958 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1763A>G |
Gln588Arg |
M0102477 |
HEOAAKAD_00047 |
39960 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1765T>A |
Ser589Thr |
M0102478 |
HEOAAKAD_00047 |
40061 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1866T>C |
Asp622Asp |
M0102479 |
HEOAAKAD_00047 |
40100 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1905T>C |
Val635Val |
M0102480 |
HEOAAKAD_00047 |
40157 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1962T>C |
Pro654Pro |
M0102481 |
HEOAAKAD_00047 |
40172 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1977G>T |
Ser659Ser |
M0102482 |
HEOAAKAD_00047 |
40175 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1980C>T |
Cys660Cys |
M0102483 |
HEOAAKAD_00047 |
40182 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
1987G>A |
Val663Ile |
M0102484 |
HEOAAKAD_00047 |
40222 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
2027G>C |
Arg676Pro |
M0102485 |
HEOAAKAD_00047 |
40243 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
2048A>C |
Asn683Thr |
M0102486 |
HEOAAKAD_00048 |
40472 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
101C>T |
Ala34Val |
M0102487 |
HEOAAKAD_00049 |
41036 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
156T>G |
His52Gln |
M0102488 |
HEOAAKAD_00049 |
41381 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
501C>T |
Asn167Asn |
M0102489 |
HEOAAKAD_00049 |
41532 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
652T>C |
Leu218Leu |
M0102490 |
HEOAAKAD_00050 |
41795 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-7A>T |
None |
M0102491 |
HEOAAKAD_00050 |
41810 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
9C>A |
Asn3Lys |
M0102492 |
HEOAAKAD_00050 |
41841 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
40G>A |
Val14Ile |
M0102493 |
HEOAAKAD_00050 |
41860 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
59A>G |
Asn20Ser |
M0102494 |
HEOAAKAD_00050 |
41915 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
114T>G |
Val38Val |
M0102495 |
HEOAAKAD_00050 |
42023 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
222G>A |
Glu74Glu |
M0102496 |
HEOAAKAD_00051 |
42206 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
82A>G |
Asn28Asp |
M0102497 |
HEOAAKAD_00051 |
42211 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
87T>C |
Phe29Phe |
M0102498 |
HEOAAKAD_00051 |
42784 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
660G>T |
Thr220Thr |
M0102499 |
HEOAAKAD_00051 |
42814 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
690C>T |
His230His |
M0102500 |
HEOAAKAD_00051 |
43015 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
891A>C |
Ile297Ile |
M0102501 |
HEOAAKAD_00051 |
43103 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
979C>T |
His327Tyr |
M0102502 |
HEOAAKAD_00051 |
43153 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1029G>A |
Lys343Lys |
M0102503 |
HEOAAKAD_00051 |
43189 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1065A>G |
Gln355Gln |
M0102504 |
HEOAAKAD_00051 |
43219 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1095A>G |
Val365Val |
M0102505 |
HEOAAKAD_00051 |
43336 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1212G>A |
Lys404Lys |
M0102506 |
HEOAAKAD_00051 |
43416 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1292A>G |
Asn431Ser |
M0102507 |
HEOAAKAD_00051 |
43421 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1297A>C |
Lys433Gln |
M0102508 |
HEOAAKAD_00051 |
43540 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1416A>G |
Glu472Glu |
M0102509 |
HEOAAKAD_00051 |
43985 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1861C>A |
Arg621Arg |
M0102510 |
HEOAAKAD_00030 |
31992 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2736C>A |
None |
M0102511 |
HEOAAKAD_00030 |
32110 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2854A>C |
None |
M0102512 |
HEOAAKAD_00030 |
32153 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2897A>T |
None |
M0102513 |
HEOAAKAD_00038 |
32630 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
36G>A |
Leu12Leu |
M0102514 |
HEOAAKAD_00039 |
33067 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
297G>A |
Glu99Glu |
M0102515 |
HEOAAKAD_00040 |
33191 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
60C>A |
Asn20Lys |
M0102516 |
HEOAAKAD_00040 |
33241 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
110G>A |
Ser37Asn |
M0102517 |
HEOAAKAD_00040 |
33248 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
117G>A |
Arg39Arg |
M0102518 |
HEOAAKAD_00040 |
33278 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Leu49Leu |
M0102519 |
HEOAAKAD_00040 |
33341 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
210C>T |
Pro70Pro |
M0102520 |
HEOAAKAD_00040 |
33348 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
217A>G |
Asn73Asp |
M0102521 |
HEOAAKAD_00030 |
33501 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4245A>C |
None |
M0102522 |
HEOAAKAD_00013 |
12801 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1536C>T |
Ser512Ser |
M0102523 |
HEOAAKAD_00013 |
12884 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1453A>G |
Thr485Ala |
M0102524 |
HEOAAKAD_00013 |
12888 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1449T>A |
Ala483Ala |
M0102525 |
HEOAAKAD_00013 |
12935 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1402T>G |
Ser468Ala |
M0102526 |
HEOAAKAD_00013 |
13013 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1324C>T |
Leu442Leu |
M0102527 |
HEOAAKAD_00014 |
14518 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
2367A>T |
Ile789Ile |
M0102528 |
HEOAAKAD_00014 |
14554 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2331T>G |
Val777Val |
M0102529 |
HEOAAKAD_00014 |
15259 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1626G>A |
Leu542Leu |
M0102530 |
HEOAAKAD_00014 |
15295 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1590C>T |
Ile530Ile |
M0102531 |
HEOAAKAD_00014 |
15319 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1566T>C |
Pro522Pro |
M0102532 |
HEOAAKAD_00014 |
15385 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1500A>C |
Gly500Gly |
M0102533 |
HEOAAKAD_00014 |
15463 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1422A>G |
Val474Val |
M0102534 |
HEOAAKAD_00014 |
15619 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1266C>T |
Tyr422Tyr |
M0102535 |
HEOAAKAD_00014 |
15790 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1095C>T |
Ser365Ser |
M0102536 |
HEOAAKAD_00014 |
15808 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1077A>G |
Lys359Lys |
M0102537 |
HEOAAKAD_00014 |
15820 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1065T>G |
Gly355Gly |
M0102538 |
HEOAAKAD_00014 |
15871 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1014A>G |
Glu338Glu |
M0102539 |
HEOAAKAD_00014 |
15922 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
963A>G |
Leu321Leu |
M0102540 |
HEOAAKAD_00014 |
15933 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
952C>T |
Leu318Leu |
M0102541 |
HEOAAKAD_00014 |
15970 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
915A>G |
Gln305Gln |
M0102542 |
HEOAAKAD_00014 |
16054 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
831A>G |
Arg277Arg |
M0102543 |
HEOAAKAD_00014 |
16081 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
804A>G |
Thr268Thr |
M0102544 |
HEOAAKAD_00014 |
16198 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
687A>G |
Lys229Lys |
M0102545 |
HEOAAKAD_00014 |
16249 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Leu212Leu |
M0102546 |
HEOAAKAD_00014 |
16263 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
622A>C |
Thr208Pro |
M0102547 |
HEOAAKAD_00014 |
16264 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
621C>T |
Asp207Asp |
M0102548 |
HEOAAKAD_00014 |
16267 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
618A>G |
Gly206Gly |
M0102549 |
HEOAAKAD_00014 |
16289 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
596A>T |
Tyr199Phe |
M0102550 |
HEOAAKAD_00014 |
16309 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
576T>C |
Asp192Asp |
M0102551 |
HEOAAKAD_00014 |
16365 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
520A>G |
Ile174Val |
M0102552 |
HEOAAKAD_00014 |
16414 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
471A>T |
Thr157Thr |
M0102553 |
HEOAAKAD_00014 |
16417 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
468C>T |
Ile156Ile |
M0102554 |
HEOAAKAD_00014 |
16431 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
454G>T |
Ala152Ser |
M0102555 |
HEOAAKAD_00014 |
16441 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
444C>T |
Tyr148Tyr |
M0102556 |
HEOAAKAD_00014 |
16444 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
441G>A |
Arg147Arg |
M0102557 |
HEOAAKAD_00014 |
16462 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
423G>A |
Val141Val |
M0102558 |
HEOAAKAD_00014 |
16492 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
393A>G |
Leu131Leu |
M0102559 |
HEOAAKAD_00014 |
16539 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
346C>A |
Arg116Arg |
M0102560 |
HEOAAKAD_00014 |
16543 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
342A>G |
Lys114Lys |
M0102561 |
HEOAAKAD_00015 |
17634 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
240G>A |
Glu80Glu |
M0102562 |
HEOAAKAD_00015 |
17643 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
231C>T |
Asp77Asp |
M0102563 |
HEOAAKAD_00015 |
17646 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
228C>A |
Ile76Ile |
M0102564 |
HEOAAKAD_00015 |
17658 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
216C>T |
Asn72Asn |
M0102565 |
HEOAAKAD_00015 |
17727 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
147T>G |
His49Gln |
M0102566 |
HEOAAKAD_00015 |
17835 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
39A>G |
Ala13Ala |
M0102567 |
HEOAAKAD_00016 |
17917 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
2076A>G |
Glu692Glu |
M0102568 |
HEOAAKAD_00016 |
17932 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
2061C>T |
His687His |
M0102569 |
HEOAAKAD_00016 |
17950 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
2043G>A |
Leu681Leu |
M0102570 |
HEOAAKAD_00016 |
17977 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
2016C>T |
Asp672Asp |
M0102571 |
HEOAAKAD_00016 |
18108 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1885A>G |
Lys629Glu |
M0102572 |
HEOAAKAD_00016 |
18126 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1867C>T |
Pro623Ser |
M0102573 |
HEOAAKAD_00016 |
18204 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1789A>G |
Ile597Val |
M0102574 |
HEOAAKAD_00016 |
18220 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1773C>T |
Leu591Leu |
M0102575 |
HEOAAKAD_00016 |
18241 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1752T>C |
Asp584Asp |
M0102576 |
HEOAAKAD_00016 |
18306 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1687C>T |
Leu563Leu |
M0102577 |
HEOAAKAD_00016 |
18460 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1533A>G |
Glu511Glu |
M0102578 |
HEOAAKAD_00016 |
19884 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
109G>A |
Gly37Ser |
M0102579 |
HEOAAKAD_00016 |
19899 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
94A>G |
Asn32Asp |
M0102580 |
HEOAAKAD_00014 |
21036 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4152T>A |
None |
M0102581 |
HEOAAKAD_00014 |
21094 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4210C>T |
None |
M0102582 |
HEOAAKAD_00019 |
21168 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
435A>C |
Ile145Ile |
M0102583 |
HEOAAKAD_00008 |
7875 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1848A>T |
Ile616Ile |
M0102584 |
HEOAAKAD_00008 |
8010 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1713G>A |
Gln571Gln |
M0102585 |
HEOAAKAD_00008 |
8022 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1701A>G |
Glu567Glu |
M0102586 |
HEOAAKAD_00008 |
8276 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1447C>T |
Leu483Leu |
M0102587 |
HEOAAKAD_00008 |
8280 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1443A>C |
Thr481Thr |
M0102588 |
HEOAAKAD_00008 |
8616 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1107T>C |
Ile369Ile |
M0102589 |
HEOAAKAD_00008 |
8688 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1035G>A |
Gln345Gln |
M0102590 |
HEOAAKAD_00008 |
8811 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
912C>T |
Gly304Gly |
M0102591 |
HEOAAKAD_00009 |
9784 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
290G>A |
Gly97Glu |
M0102592 |
HEOAAKAD_00016 |
18835 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1158T>G |
Thr386Thr |
M0102593 |
HEOAAKAD_00016 |
18862 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1131C>A |
Thr377Thr |
M0102594 |
HEOAAKAD_00016 |
18865 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1128A>G |
Thr376Thr |
M0102595 |
HEOAAKAD_00016 |
18898 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1095G>A |
Gln365Gln |
M0102596 |
HEOAAKAD_00016 |
18904 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1089A>C |
Ile363Ile |
M0102597 |
HEOAAKAD_00016 |
18908 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1085G>A |
Ser362Asn |
M0102598 |
HEOAAKAD_00016 |
18933 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1060A>T |
Asn354Tyr |
M0102599 |
HEOAAKAD_00016 |
18955 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1038G>A |
Glu346Glu |
M0102600 |
HEOAAKAD_00016 |
18958 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1035T>C |
Asn345Asn |
M0102601 |
HEOAAKAD_00016 |
18984 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1009T>C |
Tyr337His |
M0102602 |
HEOAAKAD_00016 |
18985 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1008G>A |
Lys336Lys |
M0102603 |
HEOAAKAD_00016 |
19045 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
948C>T |
Tyr316Tyr |
M0102604 |
HEOAAKAD_00016 |
19171 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
822A>T |
Leu274Phe |
M0102605 |
HEOAAKAD_00016 |
19436 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
557T>C |
Val186Ala |
M0102606 |
HEOAAKAD_00016 |
19479 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
514T>G |
Phe172Val |
M0102607 |
HEOAAKAD_00016 |
19621 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
372C>T |
Phe124Phe |
M0102608 |
HEOAAKAD_00016 |
19843 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
150T>C |
Asn50Asn |
M0102609 |
HEOAAKAD_00018 |
20557 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
160A>G |
Asn54Asp |
M0102610 |
HEOAAKAD_00018 |
20694 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
23G>A |
Ser8Asn |
M0102611 |
HEOAAKAD_00018 |
20699 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
18A>G |
Lys6Lys |
M0102612 |
HEOAAKAD_00030 |
32289 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3033A>T |
None |
M0102613 |
HEOAAKAD_00030 |
32290 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3034C>A |
None |
M0102614 |
HEOAAKAD_00030 |
32291 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3035T>G |
None |
M0102615 |
HEOAAKAD_00030 |
32303 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3047C>A |
None |
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 |
HEOAAKAD_00007 |
QQF49007.1|GH73 |
100 |
1.47e-263 |
1 |
368 |
1 |
1 |
PKPHKOCL_00007 |
QQF49007.1|GH73 |
100 |
1.47e-263 |
1 |
368 |
1 |
1 |
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 |