Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.77942107A>CCA340881035NEXNc.1558A>C (p.Met520Leu)
c.1366A>C (p.Met456Leu)
c.1257A>C
n.397A>C
n.1132A>C
c.1516A>C (p.Met506Leu)
c.1336A>C (p.Met446Leu)
c.1324A>C (p.Met442Leu)
c.1141A>C (p.Met381Leu)
 gnomAD v4
1g.77942107A>GCA340881037NEXNc.1558A>G (p.Met520Val)
c.1366A>G (p.Met456Val)
c.1257A>G
n.397A>G
n.1132A>G
c.1516A>G (p.Met506Val)
c.1336A>G (p.Met446Val)
c.1324A>G (p.Met442Val)
c.1141A>G (p.Met381Val)
 gnomAD v4
1g.77942107A>TCA340881038NEXNc.1558A>T (p.Met520Leu)
c.1366A>T (p.Met456Leu)
c.1257A>T
n.397A>T
n.1132A>T
c.1516A>T (p.Met506Leu)
c.1336A>T (p.Met446Leu)
c.1324A>T (p.Met442Leu)
c.1141A>T (p.Met381Leu)
1g.77942108T>ACA340881041NEXNc.1559T>A (p.Met520Lys)
c.1367T>A (p.Met456Lys)
c.1258T>A
n.398T>A
n.1133T>A
c.1517T>A (p.Met506Lys)
c.1337T>A (p.Met446Lys)
c.1325T>A (p.Met442Lys)
c.1142T>A (p.Met381Lys)
1g.77942108T>CCA340881046NEXNc.1559T>C (p.Met520Thr)
c.1367T>C (p.Met456Thr)
c.1258T>C
n.398T>C
n.1133T>C
c.1517T>C (p.Met506Thr)
c.1337T>C (p.Met446Thr)
c.1325T>C (p.Met442Thr)
c.1142T>C (p.Met381Thr)
 dbSNP
1g.77942108T>GCA340881044NEXNc.1559T>G (p.Met520Arg)
c.1367T>G (p.Met456Arg)
c.1258T>G
n.398T>G
n.1133T>G
c.1517T>G (p.Met506Arg)
c.1337T>G (p.Met446Arg)
c.1325T>G (p.Met442Arg)
c.1142T>G (p.Met381Arg)
1g.77942108T=CA1177631155NEXNc.1559T= (p.Met520=)
c.1367T= (p.Met456=)
c.1258T=
n.398T=
n.1133T=
c.1517T= (p.Met506=)
c.1337T= (p.Met446=)
c.1325T= (p.Met442=)
c.1142T= (p.Met381=)
1g.77942109G>ACA340881049NEXNc.1560G>A (p.Met520Ile)
c.1368G>A (p.Met456Ile)
c.1259G>A
n.399G>A
n.1134G>A
c.1518G>A (p.Met506Ile)
c.1338G>A (p.Met446Ile)
c.1326G>A (p.Met442Ile)
c.1143G>A (p.Met381Ile)
 gnomAD v4
1g.77942109G>CCA340881054NEXNc.1560G>C (p.Met520Ile)
c.1368G>C (p.Met456Ile)
c.1259G>C
n.399G>C
n.1134G>C
c.1518G>C (p.Met506Ile)
c.1338G>C (p.Met446Ile)
c.1326G>C (p.Met442Ile)
c.1143G>C (p.Met381Ile)
1g.77942109G>TCA340881055NEXNc.1560G>T (p.Met520Ile)
c.1368G>T (p.Met456Ile)
c.1259G>T
n.399G>T
n.1134G>T
c.1518G>T (p.Met506Ile)
c.1338G>T (p.Met446Ile)
c.1326G>T (p.Met442Ile)
c.1143G>T (p.Met381Ile)
1g.77942110G>ACA340881057NEXNc.1561G>A (p.Ala521Thr)
c.1369G>A (p.Ala457Thr)
c.1260G>A
n.400G>A
n.1135G>A
c.1519G>A (p.Ala507Thr)
c.1339G>A (p.Ala447Thr)
c.1327G>A (p.Ala443Thr)
c.1144G>A (p.Ala382Thr)
 dbSNP gnomAD v4
1g.77942110G>CCA340881058NEXNc.1561G>C (p.Ala521Pro)
c.1369G>C (p.Ala457Pro)
c.1260G>C
n.400G>C
n.1135G>C
c.1519G>C (p.Ala507Pro)
c.1339G>C (p.Ala447Pro)
c.1327G>C (p.Ala443Pro)
c.1144G>C (p.Ala382Pro)
1g.77942110G=CA1177631156NEXNc.1561G= (p.Ala521=)
c.1369G= (p.Ala457=)
c.1260G=
n.400G=
n.1135G=
c.1519G= (p.Ala507=)
c.1339G= (p.Ala447=)
c.1327G= (p.Ala443=)
c.1144G= (p.Ala382=)
1g.77942110G>TCA340881064NEXNc.1561G>T (p.Ala521Ser)
c.1369G>T (p.Ala457Ser)
c.1260G>T
n.400G>T
n.1135G>T
c.1519G>T (p.Ala507Ser)
c.1339G>T (p.Ala447Ser)
c.1327G>T (p.Ala443Ser)
c.1144G>T (p.Ala382Ser)
1g.77942111C>ACA340881066NEXNc.1562C>A (p.Ala521Asp)
c.1370C>A (p.Ala457Asp)
c.1261C>A
n.401C>A
n.1136C>A
c.1520C>A (p.Ala507Asp)
c.1340C>A (p.Ala447Asp)
c.1328C>A (p.Ala443Asp)
c.1145C>A (p.Ala382Asp)
 gnomAD v4
1g.77942111C>GCA340881067NEXNc.1562C>G (p.Ala521Gly)
c.1370C>G (p.Ala457Gly)
c.1261C>G
n.401C>G
n.1136C>G
c.1520C>G (p.Ala507Gly)
c.1340C>G (p.Ala447Gly)
c.1328C>G (p.Ala443Gly)
c.1145C>G (p.Ala382Gly)
1g.77942111C>TCA340881071NEXNc.1562C>T (p.Ala521Val)
c.1370C>T (p.Ala457Val)
c.1261C>T
n.401C>T
n.1136C>T
c.1520C>T (p.Ala507Val)
c.1340C>T (p.Ala447Val)
c.1328C>T (p.Ala443Val)
c.1145C>T (p.Ala382Val)
1g.77942112T>ACA418573259NEXNc.1563T>A (p.Ala521=)
c.1371T>A (p.Ala457=)
c.1262T>A
n.402T>A
n.1137T>A
c.1521T>A (p.Ala507=)
c.1341T>A (p.Ala447=)
c.1329T>A (p.Ala443=)
c.1146T>A (p.Ala382=)
1g.77942112T>CCA418573261NEXNc.1563T>C (p.Ala521=)
c.1371T>C (p.Ala457=)
c.1262T>C
n.402T>C
n.1137T>C
c.1521T>C (p.Ala507=)
c.1341T>C (p.Ala447=)
c.1329T>C (p.Ala443=)
c.1146T>C (p.Ala382=)
1g.77942112T>GCA418573263NEXNc.1563T>G (p.Ala521=)
c.1371T>G (p.Ala457=)
c.1262T>G
n.402T>G
n.1137T>G
c.1521T>G (p.Ala507=)
c.1341T>G (p.Ala447=)
c.1329T>G (p.Ala443=)
c.1146T>G (p.Ala382=)
1g.77942113A=CA1177631157NEXNc.1564A= (p.Lys522=)
c.1372A= (p.Lys458=)
c.1263A=
n.403A=
n.1138A=
c.1522A= (p.Lys508=)
c.1342A= (p.Lys448=)
c.1330A= (p.Lys444=)
c.1147A= (p.Lys383=)
1g.77942113A>CCA340881077NEXNc.1564A>C (p.Lys522Gln)
c.1372A>C (p.Lys458Gln)
c.1263A>C
n.403A>C
n.1138A>C
c.1522A>C (p.Lys508Gln)
c.1342A>C (p.Lys448Gln)
c.1330A>C (p.Lys444Gln)
c.1147A>C (p.Lys383Gln)
1g.77942113A>GCA340881076NEXNc.1564A>G (p.Lys522Glu)
c.1372A>G (p.Lys458Glu)
c.1263A>G
n.403A>G
n.1138A>G
c.1522A>G (p.Lys508Glu)
c.1342A>G (p.Lys448Glu)
c.1330A>G (p.Lys444Glu)
c.1147A>G (p.Lys383Glu)
1g.77942113A>TCA340881074NEXNc.1564A>T (p.Lys522Ter)
c.1372A>T (p.Lys458Ter)
c.1263A>T
n.403A>T
n.1138A>T
c.1522A>T (p.Lys508Ter)
c.1342A>T (p.Lys448Ter)
c.1330A>T (p.Lys444Ter)
c.1147A>T (p.Lys383Ter)
1g.77942113_77942114insTCA524231071NEXNc.1564_1565insT (p.Lys522IlefsTer12)
c.1372_1373insT (p.Lys458IlefsTer12)
c.1263_1264insT
n.403_404insT
n.1138_1139insT
c.1522_1523insT (p.Lys508IlefsTer12)
c.1342_1343insT (p.Lys448IlefsTer12)
c.1330_1331insT (p.Lys444IlefsTer12)
c.1147_1148insT (p.Lys383IlefsTer12)
 dbSNP gnomAD v2 gnomAD v4
1g.77942114A=CA1177631158NEXNc.1565A= (p.Lys522=)
c.1373A= (p.Lys458=)
c.1264A=
n.404A=
n.1139A=
c.1523A= (p.Lys508=)
c.1343A= (p.Lys448=)
c.1331A= (p.Lys444=)
c.1148A= (p.Lys383=)
1g.77942114A>CCA335421NEXNc.1565A>C (p.Lys522Thr)
c.1373A>C (p.Lys458Thr)
c.1264A>C
n.404A>C
n.1139A>C
c.1523A>C (p.Lys508Thr)
c.1343A>C (p.Lys448Thr)
c.1331A>C (p.Lys444Thr)
c.1148A>C (p.Lys383Thr)
 dbSNP gnomAD v4
1g.77942114A>GCA340881090NEXNc.1565A>G (p.Lys522Arg)
c.1373A>G (p.Lys458Arg)
c.1264A>G
n.404A>G
n.1139A>G
c.1523A>G (p.Lys508Arg)
c.1343A>G (p.Lys448Arg)
c.1331A>G (p.Lys444Arg)
c.1148A>G (p.Lys383Arg)
1g.77942114A>TCA340881092NEXNc.1565A>T (p.Lys522Met)
c.1373A>T (p.Lys458Met)
c.1264A>T
n.404A>T
n.1139A>T
c.1523A>T (p.Lys508Met)
c.1343A>T (p.Lys448Met)
c.1331A>T (p.Lys444Met)
c.1148A>T (p.Lys383Met)
1g.77942115G>ACA418573272NEXNc.1566G>A (p.Lys522=)
c.1374G>A (p.Lys458=)
c.1265G>A
n.405G>A
n.1140G>A
c.1524G>A (p.Lys508=)
c.1344G>A (p.Lys448=)
c.1332G>A (p.Lys444=)
c.1149G>A (p.Lys383=)
1g.77942115G>CCA340881095NEXNc.1566G>C (p.Lys522Asn)
c.1374G>C (p.Lys458Asn)
c.1265G>C
n.405G>C
n.1140G>C
c.1524G>C (p.Lys508Asn)
c.1344G>C (p.Lys448Asn)
c.1332G>C (p.Lys444Asn)
c.1149G>C (p.Lys383Asn)
1g.77942115G>TCA340881098NEXNc.1566G>T (p.Lys522Asn)
c.1374G>T (p.Lys458Asn)
c.1265G>T
n.405G>T
n.1140G>T
c.1524G>T (p.Lys508Asn)
c.1344G>T (p.Lys448Asn)
c.1332G>T (p.Lys444Asn)
c.1149G>T (p.Lys383Asn)
1g.77942116G>ACA340881099NEXNc.1567G>A (p.Ala523Thr)
c.1375G>A (p.Ala459Thr)
c.1266G>A
n.406G>A
n.1141G>A
c.1525G>A (p.Ala509Thr)
c.1345G>A (p.Ala449Thr)
c.1333G>A (p.Ala445Thr)
c.1150G>A (p.Ala384Thr)
1g.77942116G>CCA340881100NEXNc.1567G>C (p.Ala523Pro)
c.1375G>C (p.Ala459Pro)
c.1266G>C
n.406G>C
n.1141G>C
c.1525G>C (p.Ala509Pro)
c.1345G>C (p.Ala449Pro)
c.1333G>C (p.Ala445Pro)
c.1150G>C (p.Ala384Pro)
1g.77942116G=CA1177631159NEXNc.1567G= (p.Ala523=)
c.1375G= (p.Ala459=)
c.1266G=
n.406G=
n.1141G=
c.1525G= (p.Ala509=)
c.1345G= (p.Ala449=)
c.1333G= (p.Ala445=)
c.1150G= (p.Ala384=)
1g.77942116G>TCA340881101NEXNc.1567G>T (p.Ala523Ser)
c.1375G>T (p.Ala459Ser)
c.1266G>T
n.406G>T
n.1141G>T
c.1525G>T (p.Ala509Ser)
c.1345G>T (p.Ala449Ser)
c.1333G>T (p.Ala445Ser)
c.1150G>T (p.Ala384Ser)
 dbSNP
1g.77942117C>ACA340881102NEXNc.1568C>A (p.Ala523Glu)
c.1376C>A (p.Ala459Glu)
c.1267C>A
n.407C>A
n.1142C>A
c.1526C>A (p.Ala509Glu)
c.1346C>A (p.Ala449Glu)
c.1334C>A (p.Ala445Glu)
c.1151C>A (p.Ala384Glu)
1g.77942117C=CA1177631160NEXNc.1568C= (p.Ala523=)
c.1376C= (p.Ala459=)
c.1267C=
n.407C=
n.1142C=
c.1526C= (p.Ala509=)
c.1346C= (p.Ala449=)
c.1334C= (p.Ala445=)
c.1151C= (p.Ala384=)
1g.77942117C>GCA340881103NEXNc.1568C>G (p.Ala523Gly)
c.1376C>G (p.Ala459Gly)
c.1267C>G
n.407C>G
n.1142C>G
c.1526C>G (p.Ala509Gly)
c.1346C>G (p.Ala449Gly)
c.1334C>G (p.Ala445Gly)
c.1151C>G (p.Ala384Gly)
1g.77942117C>TCA340881105NEXNc.1568C>T (p.Ala523Val)
c.1376C>T (p.Ala459Val)
c.1267C>T
n.407C>T
n.1142C>T
c.1526C>T (p.Ala509Val)
c.1346C>T (p.Ala449Val)
c.1334C>T (p.Ala445Val)
c.1151C>T (p.Ala384Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.77942118A>CCA418573282NEXNc.1569A>C (p.Ala523=)
c.1377A>C (p.Ala459=)
c.1268A>C
n.408A>C
n.1143A>C
c.1527A>C (p.Ala509=)
c.1347A>C (p.Ala449=)
c.1335A>C (p.Ala445=)
c.1152A>C (p.Ala384=)
1g.77942118A>GCA418573284NEXNc.1569A>G (p.Ala523=)
c.1377A>G (p.Ala459=)
c.1268A>G
n.408A>G
n.1143A>G
c.1527A>G (p.Ala509=)
c.1347A>G (p.Ala449=)
c.1335A>G (p.Ala445=)
c.1152A>G (p.Ala384=)
1g.77942118A>TCA418573285NEXNc.1569A>T (p.Ala523=)
c.1377A>T (p.Ala459=)
c.1268A>T
n.408A>T
n.1143A>T
c.1527A>T (p.Ala509=)
c.1347A>T (p.Ala449=)
c.1335A>T (p.Ala445=)
c.1152A>T (p.Ala384=)
1g.77942119A>CCA418573290NEXNc.1570A>C (p.Arg524=)
c.1378A>C (p.Arg460=)
c.1269A>C
n.409A>C
n.1144A>C
c.1528A>C (p.Arg510=)
c.1348A>C (p.Arg450=)
c.1336A>C (p.Arg446=)
c.1153A>C (p.Arg385=)
1g.77942119A>GCA340881106NEXNc.1570A>G (p.Arg524Gly)
c.1378A>G (p.Arg460Gly)
c.1269A>G
n.409A>G
n.1144A>G
c.1528A>G (p.Arg510Gly)
c.1348A>G (p.Arg450Gly)
c.1336A>G (p.Arg446Gly)
c.1153A>G (p.Arg385Gly)
1g.77942119A>TCA340881107NEXNc.1570A>T (p.Arg524Ter)
c.1378A>T (p.Arg460Ter)
c.1269A>T
n.409A>T
n.1144A>T
c.1528A>T (p.Arg510Ter)
c.1348A>T (p.Arg450Ter)
c.1336A>T (p.Arg446Ter)
c.1153A>T (p.Arg385Ter)
1g.77942120G>ACA340881113NEXNc.1571G>A (p.Arg524Lys)
c.1379G>A (p.Arg460Lys)
c.1270G>A
n.410G>A
n.1145G>A
c.1529G>A (p.Arg510Lys)
c.1349G>A (p.Arg450Lys)
c.1337G>A (p.Arg446Lys)
c.1154G>A (p.Arg385Lys)
1g.77942120G>CCA340881110NEXNc.1571G>C (p.Arg524Thr)
c.1379G>C (p.Arg460Thr)
c.1270G>C
n.410G>C
n.1145G>C
c.1529G>C (p.Arg510Thr)
c.1349G>C (p.Arg450Thr)
c.1337G>C (p.Arg446Thr)
c.1154G>C (p.Arg385Thr)
1g.77942120G>TCA340881111NEXNc.1571G>T (p.Arg524Ile)
c.1379G>T (p.Arg460Ile)
c.1270G>T
n.410G>T
n.1145G>T
c.1529G>T (p.Arg510Ile)
c.1349G>T (p.Arg450Ile)
c.1337G>T (p.Arg446Ile)
c.1154G>T (p.Arg385Ile)
1g.77942120_77942122delCA2646275140NEXNc.1571_1573del (p.Arg524_Glu525delinsLys)
c.1379_1381del (p.Arg460_Glu461delinsLys)
c.1270_1272del
n.410_412del
n.1145_1147del
c.1529_1531del (p.Arg510_Glu511delinsLys)
c.1349_1351del (p.Arg450_Glu451delinsLys)
c.1337_1339del (p.Arg446_Glu447delinsLys)
c.1154_1156del (p.Arg385_Glu386delinsLys)
 gnomAD v4

Number of alleles fetched