Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18785998G>ACA506117360COMPc.1456C>T (p.Leu486=)
c.1297C>T (p.Leu433=)
c.1357C>T (p.Leu453=)
19g.18785998G>CCA404884276COMPc.1456C>G (p.Leu486Val)
c.1297C>G (p.Leu433Val)
c.1357C>G (p.Leu453Val)
 dbSNP
19g.18785998G=CA2326525518COMPc.1456C= (p.Leu486=)
c.1297C= (p.Leu433=)
c.1357C= (p.Leu453=)
19g.18785998G>TCA306255187COMPc.1456C>A (p.Leu486Met)
c.1297C>A (p.Leu433Met)
c.1357C>A (p.Leu453Met)
 dbSNP
19g.18785999G>ACA506117361COMPc.1455C>T (p.Arg485=)
c.1296C>T (p.Arg432=)
c.1356C>T (p.Arg452=)
19g.18785999G>CCA506117363COMPc.1455C>G (p.Arg485=)
c.1296C>G (p.Arg432=)
c.1356C>G (p.Arg452=)
 gnomAD v4
19g.18785999G>TCA506117366COMPc.1455C>A (p.Arg485=)
c.1296C>A (p.Arg432=)
c.1356C>A (p.Arg452=)
19g.18786000C>ACA404884278COMPc.1454G>T (p.Arg485Leu)
c.1295G>T (p.Arg432Leu)
c.1355G>T (p.Arg452Leu)
19g.18786000C=CA2326525519COMPc.1454G= (p.Arg485=)
c.1295G= (p.Arg432=)
c.1355G= (p.Arg452=)
19g.18786000C>GCA404884280COMPc.1454G>C (p.Arg485Pro)
c.1295G>C (p.Arg432Pro)
c.1355G>C (p.Arg452Pro)
19g.18786000C>TCA404884282COMPc.1454G>A (p.Arg485His)
c.1295G>A (p.Arg432His)
c.1355G>A (p.Arg452His)
 ClinVar dbSNP
19g.18786001G>ACA404884284COMPc.1453C>T (p.Arg485Cys)
c.1294C>T (p.Arg432Cys)
c.1354C>T (p.Arg452Cys)
 dbSNP gnomAD v2 gnomAD v4
19g.18786001G>CCA9316419COMPc.1453C>G (p.Arg485Gly)
c.1294C>G (p.Arg432Gly)
c.1354C>G (p.Arg452Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18786001G=CA2326525520COMPc.1453C= (p.Arg485=)
c.1294C= (p.Arg432=)
c.1354C= (p.Arg452=)
19g.18786001G>TCA404884287COMPc.1453C>A (p.Arg485Ser)
c.1294C>A (p.Arg432Ser)
c.1354C>A (p.Arg452Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.18786002G>ACA506117370COMPc.1452C>T (p.Cys484=)
c.1293C>T (p.Cys431=)
c.1353C>T (p.Cys451=)
 dbSNP
19g.18786002G>CCA404884289COMPc.1452C>G (p.Cys484Trp)
c.1293C>G (p.Cys431Trp)
c.1353C>G (p.Cys451Trp)
19g.18786002G=CA2326525521COMPc.1452C= (p.Cys484=)
c.1293C= (p.Cys431=)
c.1353C= (p.Cys451=)
19g.18786002G>TCA404884290COMPc.1452C>A (p.Cys484Ter)
c.1293C>A (p.Cys431Ter)
c.1353C>A (p.Cys451Ter)
 dbSNP gnomAD v4
19g.18786003C>ACA404884293COMPc.1451G>T (p.Cys484Phe)
c.1292G>T (p.Cys431Phe)
c.1352G>T (p.Cys451Phe)
 ClinVar
19g.18786003C>GCA404884295COMPc.1451G>C (p.Cys484Ser)
c.1292G>C (p.Cys431Ser)
c.1352G>C (p.Cys451Ser)
19g.18786003C>TCA404884296COMPc.1451G>A (p.Cys484Tyr)
c.1292G>A (p.Cys431Tyr)
c.1352G>A (p.Cys451Tyr)
19g.18786004A>CCA404884299COMPc.1450T>G (p.Cys484Gly)
c.1291T>G (p.Cys431Gly)
c.1351T>G (p.Cys451Gly)
19g.18786004A>GCA404884302COMPc.1450T>C (p.Cys484Arg)
c.1291T>C (p.Cys431Arg)
c.1351T>C (p.Cys451Arg)
19g.18786004A>TCA404884301COMPc.1450T>A (p.Cys484Ser)
c.1291T>A (p.Cys431Ser)
c.1351T>A (p.Cys451Ser)
19g.18786005G>ACA506117376COMPc.1449C>T (p.Asn483=)
c.1290C>T (p.Asn430=)
c.1350C>T (p.Asn450=)
19g.18786005G>CCA404884304COMPc.1449C>G (p.Asn483Lys)
c.1290C>G (p.Asn430Lys)
c.1350C>G (p.Asn450Lys)
19g.18786005G>TCA404884306COMPc.1449C>A (p.Asn483Lys)
c.1290C>A (p.Asn430Lys)
c.1350C>A (p.Asn450Lys)
19g.18786006T>ACA404884307COMPc.1448A>T (p.Asn483Ile)
c.1289A>T (p.Asn430Ile)
c.1349A>T (p.Asn450Ile)
19g.18786006T>CCA404884310COMPc.1448A>G (p.Asn483Ser)
c.1289A>G (p.Asn430Ser)
c.1349A>G (p.Asn450Ser)
19g.18786006T>GCA404884312COMPc.1448A>C (p.Asn483Thr)
c.1289A>C (p.Asn430Thr)
c.1349A>C (p.Asn450Thr)
19g.18786007T>ACA404884313COMPc.1447A>T (p.Asn483Tyr)
c.1288A>T (p.Asn430Tyr)
c.1348A>T (p.Asn450Tyr)
19g.18786007T>CCA404884314COMPc.1447A>G (p.Asn483Asp)
c.1288A>G (p.Asn430Asp)
c.1348A>G (p.Asn450Asp)
19g.18786007T>GCA404884315COMPc.1447A>C (p.Asn483His)
c.1288A>C (p.Asn430His)
c.1348A>C (p.Asn450His)
19g.18786008G>ACA9316420COMPc.1446C>T (p.Asp482=)
c.1287C>T (p.Asp429=)
c.1347C>T (p.Asp449=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18786008G>CCA404884316COMPc.1446C>G (p.Asp482Glu)
c.1287C>G (p.Asp429Glu)
c.1347C>G (p.Asp449Glu)
19g.18786008G=CA2326525522COMPc.1446C= (p.Asp482=)
c.1287C= (p.Asp429=)
c.1347C= (p.Asp449=)
19g.18786008G>TCA404884317COMPc.1446C>A (p.Asp482Glu)
c.1287C>A (p.Asp429Glu)
c.1347C>A (p.Asp449Glu)
 gnomAD v4
19g.18786008_18786009delinsGTCA2326525523COMPc.1445_1446delinsAC (p.Asp482=)
c.1286_1287delinsAC (p.Asp429=)
c.1346_1347delinsAC (p.Asp449=)
19g.18786009delCA306255220COMPc.1445del (p.Asp482AlafsTer?)
c.1286del (p.Asp429AlafsTer?)
c.1346del (p.Asp449AlafsTer?)
 dbSNP gnomAD v4
19g.18786009T>ACA404884323COMPc.1445A>T (p.Asp482Val)
c.1286A>T (p.Asp429Val)
c.1346A>T (p.Asp449Val)
 ClinVar dbSNP
19g.18786009T>CCA404884319COMPc.1445A>G (p.Asp482Gly)
c.1286A>G (p.Asp429Gly)
c.1346A>G (p.Asp449Gly)
19g.18786009T>GCA404884318COMPc.1445A>C (p.Asp482Ala)
c.1286A>C (p.Asp429Ala)
c.1346A>C (p.Asp449Ala)
19g.18786009T=CA2326525524COMPc.1445A= (p.Asp482=)
c.1286A= (p.Asp429=)
c.1346A= (p.Asp449=)
19g.18786010C>ACA404884331COMPc.1444G>T (p.Asp482Tyr)
c.1285G>T (p.Asp429Tyr)
c.1345G>T (p.Asp449Tyr)
19g.18786010C>GCA404884326COMPc.1444G>C (p.Asp482His)
c.1285G>C (p.Asp429His)
c.1345G>C (p.Asp449His)
19g.18786010C>TCA404884328COMPc.1444G>A (p.Asp482Asn)
c.1285G>A (p.Asp429Asn)
c.1345G>A (p.Asp449Asn)
 ClinVar dbSNP
19g.18786011C>ACA506117383COMPc.1443G>T (p.Arg481=)
c.1284G>T (p.Arg428=)
c.1344G>T (p.Arg448=)
 dbSNP gnomAD v4
19g.18786011C=CA2326525525COMPc.1443G= (p.Arg481=)
c.1284G= (p.Arg428=)
c.1344G= (p.Arg448=)
19g.18786011C>GCA506117385COMPc.1443G>C (p.Arg481=)
c.1284G>C (p.Arg428=)
c.1344G>C (p.Arg448=)
19g.18786011C>TCA506117384COMPc.1443G>A (p.Arg481=)
c.1284G>A (p.Arg428=)
c.1344G>A (p.Arg448=)
 dbSNP gnomAD v3 gnomAD v4
19g.18786012C>ACA404884337COMPc.1442G>T (p.Arg481Leu)
c.1283G>T (p.Arg428Leu)
c.1343G>T (p.Arg448Leu)
19g.18786012C=CA2326525526COMPc.1442G= (p.Arg481=)
c.1283G= (p.Arg428=)
c.1343G= (p.Arg448=)
19g.18786012C>GCA404884340COMPc.1442G>C (p.Arg481Pro)
c.1283G>C (p.Arg428Pro)
c.1343G>C (p.Arg448Pro)
 gnomAD v4
19g.18786012C>TCA9316421COMPc.1442G>A (p.Arg481Gln)
c.1283G>A (p.Arg428Gln)
c.1343G>A (p.Arg448Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18786013G>ACA9316422COMPc.1441C>T (p.Arg481Trp)
c.1282C>T (p.Arg428Trp)
c.1342C>T (p.Arg448Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18786013G>CCA404884351COMPc.1441C>G (p.Arg481Gly)
c.1282C>G (p.Arg428Gly)
c.1342C>G (p.Arg448Gly)
 gnomAD v4
19g.18786013G=CA2326525527COMPc.1441C= (p.Arg481=)
c.1282C= (p.Arg428=)
c.1342C= (p.Arg448=)
19g.18786013G>TCA506117389COMPc.1441C>A (p.Arg481=)
c.1282C>A (p.Arg428=)
c.1342C>A (p.Arg448=)
 gnomAD v4
19g.18786014A>CCA404884354COMPc.1440T>G (p.Ser480Arg)
c.1281T>G (p.Ser427Arg)
c.1341T>G (p.Ser447Arg)
19g.18786014A>GCA506117391COMPc.1440T>C (p.Ser480=)
c.1281T>C (p.Ser427=)
c.1341T>C (p.Ser447=)
19g.18786014A>TCA404884356COMPc.1440T>A (p.Ser480Arg)
c.1281T>A (p.Ser427Arg)
c.1341T>A (p.Ser447Arg)
19g.18786015C>ACA404884360COMPc.1439G>T (p.Ser480Ile)
c.1280G>T (p.Ser427Ile)
c.1340G>T (p.Ser447Ile)
19g.18786015C>GCA404884364COMPc.1439G>C (p.Ser480Thr)
c.1280G>C (p.Ser427Thr)
c.1340G>C (p.Ser447Thr)
19g.18786015C>TCA404884365COMPc.1439G>A (p.Ser480Asn)
c.1280G>A (p.Ser427Asn)
c.1340G>A (p.Ser447Asn)
 gnomAD v4
19g.18786016T>ACA404884367COMPc.1438A>T (p.Ser480Cys)
c.1279A>T (p.Ser427Cys)
c.1339A>T (p.Ser447Cys)
19g.18786016T>CCA404884368COMPc.1438A>G (p.Ser480Gly)
c.1279A>G (p.Ser427Gly)
c.1339A>G (p.Ser447Gly)
19g.18786016T>GCA404884366COMPc.1438A>C (p.Ser480Arg)
c.1279A>C (p.Ser427Arg)
c.1339A>C (p.Ser447Arg)
19g.18786017G>ACA506117394COMPc.1437C>T (p.Asp479=)
c.1278C>T (p.Asp426=)
c.1338C>T (p.Asp446=)
 dbSNP
19g.18786017G>CCA404884371COMPc.1437C>G (p.Asp479Glu)
c.1278C>G (p.Asp426Glu)
c.1338C>G (p.Asp446Glu)
19g.18786017G=CA2326525528COMPc.1437C= (p.Asp479=)
c.1278C= (p.Asp426=)
c.1338C= (p.Asp446=)
19g.18786017G>TCA404884373COMPc.1437C>A (p.Asp479Glu)
c.1278C>A (p.Asp426Glu)
c.1338C>A (p.Asp446Glu)
19g.18786021_18786032delCA915940661COMPc.1426_1437del (p.Gly476_Asp479del)
c.1267_1278del (p.Gly423_Asp426del)
c.1327_1338del (p.Gly443_Asp446del)
19g.18786018T>ACA404884376COMPc.1436A>T (p.Asp479Val)
c.1277A>T (p.Asp426Val)
c.1337A>T (p.Asp446Val)
 ClinVar
19g.18786018T>CCA404884379COMPc.1436A>G (p.Asp479Gly)
c.1277A>G (p.Asp426Gly)
c.1337A>G (p.Asp446Gly)
19g.18786018T>GCA404884381COMPc.1436A>C (p.Asp479Ala)
c.1277A>C (p.Asp426Ala)
c.1337A>C (p.Asp446Ala)
19g.18786019C>ACA404884390COMPc.1435G>T (p.Asp479Tyr)
c.1276G>T (p.Asp426Tyr)
c.1336G>T (p.Asp446Tyr)
19g.18786019C>GCA404884385COMPc.1435G>C (p.Asp479His)
c.1276G>C (p.Asp426His)
c.1336G>C (p.Asp446His)
 ClinVar dbSNP
19g.18786019C>TCA404884387COMPc.1435G>A (p.Asp479Asn)
c.1276G>A (p.Asp426Asn)
c.1336G>A (p.Asp446Asn)
19g.18786020A>CCA506117400COMPc.1434T>G (p.Pro478=)
c.1275T>G (p.Pro425=)
c.1335T>G (p.Pro445=)
 gnomAD v4
19g.18786020A>GCA506117401COMPc.1434T>C (p.Pro478=)
c.1275T>C (p.Pro425=)
c.1335T>C (p.Pro445=)
19g.18786020A>TCA506117403COMPc.1434T>A (p.Pro478=)
c.1275T>A (p.Pro425=)
c.1335T>A (p.Pro445=)
19g.18786021G>ACA404884394COMPc.1433C>T (p.Pro478Leu)
c.1274C>T (p.Pro425Leu)
c.1334C>T (p.Pro445Leu)
19g.18786021G>CCA404884396COMPc.1433C>G (p.Pro478Arg)
c.1274C>G (p.Pro425Arg)
c.1334C>G (p.Pro445Arg)
19g.18786021G=CA2326525529COMPc.1433C= (p.Pro478=)
c.1274C= (p.Pro425=)
c.1334C= (p.Pro445=)
19g.18786021G>TCA9316423COMPc.1433C>A (p.Pro478His)
c.1274C>A (p.Pro425His)
c.1334C>A (p.Pro445His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18786022G>ACA404884402COMPc.1432C>T (p.Pro478Ser)
c.1273C>T (p.Pro425Ser)
c.1333C>T (p.Pro445Ser)
 COSMIC
19g.18786022G>CCA404884406COMPc.1432C>G (p.Pro478Ala)
c.1273C>G (p.Pro425Ala)
c.1333C>G (p.Pro445Ala)
19g.18786022G>TCA404884408COMPc.1432C>A (p.Pro478Thr)
c.1273C>A (p.Pro425Thr)
c.1333C>A (p.Pro445Thr)
19g.18786023G>ACA506117410COMPc.1431C>T (p.Val477=)
c.1272C>T (p.Val424=)
c.1332C>T (p.Val444=)
19g.18786023G>CCA506117411COMPc.1431C>G (p.Val477=)
c.1272C>G (p.Val424=)
c.1332C>G (p.Val444=)
19g.18786023G=CA2326525530COMPc.1431C= (p.Val477=)
c.1272C= (p.Val424=)
c.1332C= (p.Val444=)
19g.18786023G>TCA506117412COMPc.1431C>A (p.Val477=)
c.1272C>A (p.Val424=)
c.1332C>A (p.Val444=)
 dbSNP gnomAD v4
19g.18786024A=CA2326525531COMPc.1430T= (p.Val477=)
c.1271T= (p.Val424=)
c.1331T= (p.Val444=)
19g.18786024A>CCA404884411COMPc.1430T>G (p.Val477Gly)
c.1271T>G (p.Val424Gly)
c.1331T>G (p.Val444Gly)
19g.18786024A>GCA404884412COMPc.1430T>C (p.Val477Ala)
c.1271T>C (p.Val424Ala)
c.1331T>C (p.Val444Ala)
 dbSNP
19g.18786024A>TCA404884410COMPc.1430T>A (p.Val477Asp)
c.1271T>A (p.Val424Asp)
c.1331T>A (p.Val444Asp)
19g.18786025C>ACA404884414COMPc.1429G>T (p.Val477Phe)
c.1270G>T (p.Val424Phe)
c.1330G>T (p.Val444Phe)
19g.18786025C=CA2326525532COMPc.1429G= (p.Val477=)
c.1270G= (p.Val424=)
c.1330G= (p.Val444=)
19g.18786025C>GCA404884415COMPc.1429G>C (p.Val477Leu)
c.1270G>C (p.Val424Leu)
c.1330G>C (p.Val444Leu)
19g.18786025C>TCA404884418COMPc.1429G>A (p.Val477Ile)
c.1270G>A (p.Val424Ile)
c.1330G>A (p.Val444Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18786026T>ACA506117417COMPc.1428A>T (p.Gly476=)
c.1269A>T (p.Gly423=)
c.1329A>T (p.Gly443=)
19g.18786026T>CCA506117418COMPc.1428A>G (p.Gly476=)
c.1269A>G (p.Gly423=)
c.1329A>G (p.Gly443=)
19g.18786026T>GCA506117419COMPc.1428A>C (p.Gly476=)
c.1269A>C (p.Gly423=)
c.1329A>C (p.Gly443=)
 gnomAD v4
19g.18786027C>ACA404884421COMPc.1427G>T (p.Gly476Val)
c.1268G>T (p.Gly423Val)
c.1328G>T (p.Gly443Val)
 gnomAD v4
19g.18786027C>GCA404884424COMPc.1427G>C (p.Gly476Ala)
c.1268G>C (p.Gly423Ala)
c.1328G>C (p.Gly443Ala)
19g.18786027C>TCA404884427COMPc.1427G>A (p.Gly476Glu)
c.1268G>A (p.Gly423Glu)
c.1328G>A (p.Gly443Glu)
19g.18786028C>ACA404884430COMPc.1426G>T (p.Gly476Ter)
c.1267G>T (p.Gly423Ter)
c.1327G>T (p.Gly443Ter)
19g.18786028C=CA2326525533COMPc.1426G= (p.Gly476=)
c.1267G= (p.Gly423=)
c.1327G= (p.Gly443=)
19g.18786028C>GCA404884432COMPc.1426G>C (p.Gly476Arg)
c.1267G>C (p.Gly423Arg)
c.1327G>C (p.Gly443Arg)
19g.18786028C>TCA404884435COMPc.1426G>A (p.Gly476Arg)
c.1267G>A (p.Gly423Arg)
c.1327G>A (p.Gly443Arg)
 dbSNP gnomAD v2
19g.18786029G>ACA506117421COMPc.1425C>T (p.Asp475=)
c.1266C>T (p.Asp422=)
c.1326C>T (p.Asp442=)
 dbSNP
19g.18786029G>CCA404884436COMPc.1425C>G (p.Asp475Glu)
c.1266C>G (p.Asp422Glu)
c.1326C>G (p.Asp442Glu)
19g.18786029G=CA2326525534COMPc.1425C= (p.Asp475=)
c.1266C= (p.Asp422=)
c.1326C= (p.Asp442=)
19g.18786029G>TCA404884437COMPc.1425C>A (p.Asp475Glu)
c.1266C>A (p.Asp422Glu)
c.1326C>A (p.Asp442Glu)
 gnomAD v4
19g.18786032_18786037dupCA2695228427COMPc.1420_1425dup (p.Asp475_Gly476insAsnAsp)
c.1261_1266dup (p.Asp422_Gly423insAsnAsp)
c.1321_1326dup (p.Asp442_Gly443insAsnAsp)
 ClinVar
19g.18786030T>ACA404884442COMPc.1424A>T (p.Asp475Val)
c.1265A>T (p.Asp422Val)
c.1325A>T (p.Asp442Val)
 COSMIC
19g.18786030T>CCA404884441COMPc.1424A>G (p.Asp475Gly)
c.1265A>G (p.Asp422Gly)
c.1325A>G (p.Asp442Gly)
19g.18786030T>GCA404884439COMPc.1424A>C (p.Asp475Ala)
c.1265A>C (p.Asp422Ala)
c.1325A>C (p.Asp442Ala)
19g.18786031C>ACA404884444COMPc.1423G>T (p.Asp475Tyr)
c.1264G>T (p.Asp422Tyr)
c.1324G>T (p.Asp442Tyr)
19g.18786031C>GCA404884447COMPc.1423G>C (p.Asp475His)
c.1264G>C (p.Asp422His)
c.1324G>C (p.Asp442His)
19g.18786031C>TCA404884452COMPc.1423G>A (p.Asp475Asn)
c.1264G>A (p.Asp422Asn)
c.1324G>A (p.Asp442Asn)
 ClinVar
19g.18786032A>CCA404884458COMPc.1422T>G (p.Asn474Lys)
c.1263T>G (p.Asn421Lys)
c.1323T>G (p.Asn441Lys)
19g.18786032A>GCA506117423COMPc.1422T>C (p.Asn474=)
c.1263T>C (p.Asn421=)
c.1323T>C (p.Asn441=)
19g.18786032A>TCA404884463COMPc.1422T>A (p.Asn474Lys)
c.1263T>A (p.Asn421Lys)
c.1323T>A (p.Asn441Lys)
19g.18786032_18786034delCA2695228428COMPc.1420_1422del (p.Asn474del)
c.1261_1263del (p.Asn421del)
c.1321_1323del (p.Asn441del)
19g.18786032_18786038delinsATTGTCGCA2326525535COMPc.1416_1422delinsCGACAAT (p.Asp472=)
c.1257_1263delinsCGACAAT (p.Asp419=)
c.1317_1323delinsCGACAAT (p.Asp439=)
19g.18786033T>ACA404884469COMPc.1421A>T (p.Asn474Ile)
c.1262A>T (p.Asn421Ile)
c.1322A>T (p.Asn441Ile)
19g.18786033T>CCA404884473COMPc.1421A>G (p.Asn474Ser)
c.1262A>G (p.Asn421Ser)
c.1322A>G (p.Asn441Ser)
19g.18786033T>GCA404884481COMPc.1421A>C (p.Asn474Thr)
c.1262A>C (p.Asn421Thr)
c.1322A>C (p.Asn441Thr)
19g.18786034_18786039delCA1139666379COMPc.1416_1421del (p.Asp473_Asn474del)
c.1257_1262del (p.Asp420_Asn421del)
c.1317_1322del (p.Asp440_Asn441del)
 ClinVar dbSNP
19g.18786034T>ACA404884484COMPc.1420A>T (p.Asn474Tyr)
c.1261A>T (p.Asn421Tyr)
c.1321A>T (p.Asn441Tyr)
19g.18786034T>CCA404884495COMPc.1420A>G (p.Asn474Asp)
c.1261A>G (p.Asn421Asp)
c.1321A>G (p.Asn441Asp)
19g.18786034T>GCA404884499COMPc.1420A>C (p.Asn474His)
c.1261A>C (p.Asn421His)
c.1321A>C (p.Asn441His)
 dbSNP
19g.18786034T=CA2326525537COMPc.1420A= (p.Asn474=)
c.1261A= (p.Asn421=)
c.1321A= (p.Asn441=)
19g.18786034_18786037delinsTGTCCA2326525536COMPc.1417_1420delinsGACA (p.Asp473=)
c.1258_1261delinsGACA (p.Asp420=)
c.1318_1321delinsGACA (p.Asp440=)
19g.18786035G>ACA506117431COMPc.1419C>T (p.Asp473=)
c.1260C>T (p.Asp420=)
c.1320C>T (p.Asp440=)
19g.18786035G>CCA404884525COMPc.1419C>G (p.Asp473Glu)
c.1260C>G (p.Asp420Glu)
c.1320C>G (p.Asp440Glu)
19g.18786035G>TCA404884533COMPc.1419C>A (p.Asp473Glu)
c.1260C>A (p.Asp420Glu)
c.1320C>A (p.Asp440Glu)
 gnomAD v4
19g.18786048_18786050dupCA340879COMPc.1417_1419dup (p.Asp473_Asn474insAsp)
c.1258_1260dup (p.Asp420_Asn421insAsp)
c.1318_1320dup (p.Asp440_Asn441insAsp)
 ClinVar dbSNP
19g.18786045_18786050dupCA645373265COMPc.1414_1419dup (p.Asp473_Asn474insAspAsp)
c.1255_1260dup (p.Asp420_Asn421insAspAsp)
c.1315_1320dup (p.Asp440_Asn441insAspAsp)
 ClinVar dbSNP
19g.18786048_18786050delCA343853COMPc.1417_1419del (p.Asp473del)
c.1258_1260del (p.Asp420del)
c.1318_1320del (p.Asp440del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18786045_18786050delCA2695228430COMPc.1414_1419del (p.Asp472_Asp473del)
c.1255_1260del (p.Asp419_Asp420del)
c.1315_1320del (p.Asp439_Asp440del)
19g.18786042_18786050delCA2695228429COMPc.1411_1419del (p.Asp471_Asp473del)
c.1252_1260del (p.Asp418_Asp420del)
c.1312_1320del (p.Asp438_Asp440del)
19g.18786036T>ACA404884535COMPc.1418A>T (p.Asp473Val)
c.1259A>T (p.Asp420Val)
c.1319A>T (p.Asp440Val)
19g.18786036T>CCA120169COMPc.1418A>G (p.Asp473Gly)
c.1259A>G (p.Asp420Gly)
c.1319A>G (p.Asp440Gly)
 ClinVar dbSNP
19g.18786036T>GCA404884538COMPc.1418A>C (p.Asp473Ala)
c.1259A>C (p.Asp420Ala)
c.1319A>C (p.Asp440Ala)
19g.18786036T=CA2326525538COMPc.1418A= (p.Asp473=)
c.1259A= (p.Asp420=)
c.1319A= (p.Asp440=)
19g.18786037C>ACA404884540COMPc.1417G>T (p.Asp473Tyr)
c.1258G>T (p.Asp420Tyr)
c.1318G>T (p.Asp440Tyr)
19g.18786037C>GCA404884543COMPc.1417G>C (p.Asp473His)
c.1258G>C (p.Asp420His)
c.1318G>C (p.Asp440His)
 ClinVar
19g.18786037C>TCA404884546COMPc.1417G>A (p.Asp473Asn)
c.1258G>A (p.Asp420Asn)
c.1318G>A (p.Asp440Asn)
 ClinVar
19g.18786038G>ACA506117434COMPc.1416C>T (p.Asp472=)
c.1257C>T (p.Asp419=)
c.1317C>T (p.Asp439=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18786038G>CCA404884550COMPc.1416C>G (p.Asp472Glu)
c.1257C>G (p.Asp419Glu)
c.1317C>G (p.Asp439Glu)
19g.18786038G=CA2326525539COMPc.1416C= (p.Asp472=)
c.1257C= (p.Asp419=)
c.1317C= (p.Asp439=)
19g.18786038G>TCA404884552COMPc.1416C>A (p.Asp472Glu)
c.1257C>A (p.Asp419Glu)
c.1317C>A (p.Asp439Glu)
19g.18786039T>ACA404884556COMPc.1415A>T (p.Asp472Val)
c.1256A>T (p.Asp419Val)
c.1316A>T (p.Asp439Val)
19g.18786039T>CCA404884560COMPc.1415A>G (p.Asp472Gly)
c.1256A>G (p.Asp419Gly)
c.1316A>G (p.Asp439Gly)
19g.18786039T>GCA404884563COMPc.1415A>C (p.Asp472Ala)
c.1256A>C (p.Asp419Ala)
c.1316A>C (p.Asp439Ala)
19g.18786040C>ACA254700COMPc.1414G>T (p.Asp472Tyr)
c.1255G>T (p.Asp419Tyr)
c.1315G>T (p.Asp439Tyr)
 ClinVar dbSNP
19g.18786040C=CA2326525540COMPc.1414G= (p.Asp472=)
c.1255G= (p.Asp419=)
c.1315G= (p.Asp439=)
19g.18786040C>GCA404884573COMPc.1414G>C (p.Asp472His)
c.1255G>C (p.Asp419His)
c.1315G>C (p.Asp439His)
 ClinVar dbSNP
19g.18786040C>TCA404884571COMPc.1414G>A (p.Asp472Asn)
c.1255G>A (p.Asp419Asn)
c.1315G>A (p.Asp439Asn)
19g.18786041G>ACA506117439COMPc.1413C>T (p.Asp471=)
c.1254C>T (p.Asp418=)
c.1314C>T (p.Asp438=)
 ClinVar dbSNP gnomAD v4
19g.18786041G>CCA404884575COMPc.1413C>G (p.Asp471Glu)
c.1254C>G (p.Asp418Glu)
c.1314C>G (p.Asp438Glu)
 gnomAD v4
19g.18786041G=CA2326525541COMPc.1413C= (p.Asp471=)
c.1254C= (p.Asp418=)
c.1314C= (p.Asp438=)
19g.18786041G>TCA404884579COMPc.1413C>A (p.Asp471Glu)
c.1254C>A (p.Asp418Glu)
c.1314C>A (p.Asp438Glu)
19g.18786042T>ACA404884581COMPc.1412A>T (p.Asp471Val)
c.1253A>T (p.Asp418Val)
c.1313A>T (p.Asp438Val)
19g.18786042T>CCA404884585COMPc.1412A>G (p.Asp471Gly)
c.1253A>G (p.Asp418Gly)
c.1313A>G (p.Asp438Gly)
19g.18786042T>GCA404884595COMPc.1412A>C (p.Asp471Ala)
c.1253A>C (p.Asp418Ala)
c.1313A>C (p.Asp438Ala)
19g.18786043C>ACA306255334COMPc.1411G>T (p.Asp471Tyr)
c.1252G>T (p.Asp418Tyr)
c.1312G>T (p.Asp438Tyr)
 dbSNP
19g.18786043C=CA2326525542COMPc.1411G= (p.Asp471=)
c.1252G= (p.Asp418=)
c.1312G= (p.Asp438=)
19g.18786043C>GCA404884598COMPc.1411G>C (p.Asp471His)
c.1252G>C (p.Asp418His)
c.1312G>C (p.Asp438His)
 ClinVar
19g.18786043C>TCA404884597COMPc.1411G>A (p.Asp471Asn)
c.1252G>A (p.Asp418Asn)
c.1312G>A (p.Asp438Asn)
19g.18786044G>ACA9316424COMPc.1410C>T (p.Asp470=)
c.1251C>T (p.Asp417=)
c.1311C>T (p.Asp437=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18786044G>CCA404884602COMPc.1410C>G (p.Asp470Glu)
c.1251C>G (p.Asp417Glu)
c.1311C>G (p.Asp437Glu)
19g.18786044G=CA2326525543COMPc.1410C= (p.Asp470=)
c.1251C= (p.Asp417=)
c.1311C= (p.Asp437=)
19g.18786044G>TCA404884605COMPc.1410C>A (p.Asp470Glu)
c.1251C>A (p.Asp417Glu)
c.1311C>A (p.Asp437Glu)
19g.18786045T>ACA404884609COMPc.1409A>T (p.Asp470Val)
c.1250A>T (p.Asp417Val)
c.1310A>T (p.Asp437Val)
19g.18786045T>CCA404884615COMPc.1409A>G (p.Asp470Gly)
c.1250A>G (p.Asp417Gly)
c.1310A>G (p.Asp437Gly)
19g.18786045T>GCA404884617COMPc.1409A>C (p.Asp470Ala)
c.1250A>C (p.Asp417Ala)
c.1310A>C (p.Asp437Ala)
19g.18786046C>ACA404884626COMPc.1408G>T (p.Asp470Tyr)
c.1249G>T (p.Asp417Tyr)
c.1309G>T (p.Asp437Tyr)
19g.18786046C>GCA404884624COMPc.1408G>C (p.Asp470His)
c.1249G>C (p.Asp417His)
c.1309G>C (p.Asp437His)
19g.18786046C>TCA404884621COMPc.1408G>A (p.Asp470Asn)
c.1249G>A (p.Asp417Asn)
c.1309G>A (p.Asp437Asn)
19g.18786047G>ACA9316425COMPc.1407C>T (p.Asp469=)
c.1248C>T (p.Asp416=)
c.1308C>T (p.Asp436=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18786047G>CCA404884630COMPc.1407C>G (p.Asp469Glu)
c.1248C>G (p.Asp416Glu)
c.1308C>G (p.Asp436Glu)
19g.18786047G=CA2326525544COMPc.1407C= (p.Asp469=)
c.1248C= (p.Asp416=)
c.1308C= (p.Asp436=)
19g.18786047G>TCA404884627COMPc.1407C>A (p.Asp469Glu)
c.1248C>A (p.Asp416Glu)
c.1308C>A (p.Asp436Glu)
19g.18786048T>ACA9316426COMPc.1406A>T (p.Asp469Val)
c.1247A>T (p.Asp416Val)
c.1307A>T (p.Asp436Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18786048T>CCA404884643COMPc.1406A>G (p.Asp469Gly)
c.1247A>G (p.Asp416Gly)
c.1307A>G (p.Asp436Gly)
 COSMIC
19g.18786048T>GCA404884633COMPc.1406A>C (p.Asp469Ala)
c.1247A>C (p.Asp416Ala)
c.1307A>C (p.Asp436Ala)
19g.18786048T=CA2326525545COMPc.1406A= (p.Asp469=)
c.1247A= (p.Asp416=)
c.1307A= (p.Asp436=)
19g.18786049C>ACA404884647COMPc.1405G>T (p.Asp469Tyr)
c.1246G>T (p.Asp416Tyr)
c.1306G>T (p.Asp436Tyr)
19g.18786049C>GCA404884649COMPc.1405G>C (p.Asp469His)
c.1246G>C (p.Asp416His)
c.1306G>C (p.Asp436His)
19g.18786049C>TCA404884650COMPc.1405G>A (p.Asp469Asn)
c.1246G>A (p.Asp416Asn)
c.1306G>A (p.Asp436Asn)
19g.18786050G>ACA506117446COMPc.1404C>T (p.Cys468=)
c.1245C>T (p.Cys415=)
c.1305C>T (p.Cys435=)
 ClinVar dbSNP gnomAD v4
19g.18786050G>CCA404884653COMPc.1404C>G (p.Cys468Trp)
c.1245C>G (p.Cys415Trp)
c.1305C>G (p.Cys435Trp)
 ClinVar dbSNP
19g.18786050G=CA2326525546COMPc.1404C= (p.Cys468=)
c.1245C= (p.Cys415=)
c.1305C= (p.Cys435=)
19g.18786050G>TCA9316427COMPc.1404C>A (p.Cys468Ter)
c.1245C>A (p.Cys415Ter)
c.1305C>A (p.Cys435Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18786051C>ACA404884655COMPc.1403G>T (p.Cys468Phe)
c.1244G>T (p.Cys415Phe)
c.1304G>T (p.Cys435Phe)
 ClinVar dbSNP
19g.18786051C=CA2326525547COMPc.1403G= (p.Cys468=)
c.1244G= (p.Cys415=)
c.1304G= (p.Cys435=)
19g.18786051C>GCA404884657COMPc.1403G>C (p.Cys468Ser)
c.1244G>C (p.Cys415Ser)
c.1304G>C (p.Cys435Ser)
 ClinVar dbSNP
19g.18786051C>TCA254701COMPc.1403G>A (p.Cys468Tyr)
c.1244G>A (p.Cys415Tyr)
c.1304G>A (p.Cys435Tyr)
 ClinVar dbSNP
19g.18786052A>CCA404884658COMPc.1402T>G (p.Cys468Gly)
c.1243T>G (p.Cys415Gly)
c.1303T>G (p.Cys435Gly)
19g.18786052A>GCA404884659COMPc.1402T>C (p.Cys468Arg)
c.1243T>C (p.Cys415Arg)
c.1303T>C (p.Cys435Arg)
 ClinVar
19g.18786052A>TCA404884661COMPc.1402T>A (p.Cys468Ser)
c.1243T>A (p.Cys415Ser)
c.1303T>A (p.Cys435Ser)
19g.18786053G>ACA506117449COMPc.1401C>T (p.Ala467=)
c.1242C>T (p.Ala414=)
c.1302C>T (p.Ala434=)
 gnomAD v4
19g.18786053G>CCA506117448COMPc.1401C>G (p.Ala467=)
c.1242C>G (p.Ala414=)
c.1302C>G (p.Ala434=)
19g.18786053G>TCA506117451COMPc.1401C>A (p.Ala467=)
c.1242C>A (p.Ala414=)
c.1302C>A (p.Ala434=)
19g.18786054G>ACA404884670COMPc.1400C>T (p.Ala467Val)
c.1241C>T (p.Ala414Val)
c.1301C>T (p.Ala434Val)
19g.18786054G>CCA404884666COMPc.1400C>G (p.Ala467Gly)
c.1241C>G (p.Ala414Gly)
c.1301C>G (p.Ala434Gly)
19g.18786054G>TCA404884665COMPc.1400C>A (p.Ala467Asp)
c.1241C>A (p.Ala414Asp)
c.1301C>A (p.Ala434Asp)
19g.18786055C>ACA9316428COMPc.1399G>T (p.Ala467Ser)
c.1240G>T (p.Ala414Ser)
c.1300G>T (p.Ala434Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18786055C=CA2326525548COMPc.1399G= (p.Ala467=)
c.1240G= (p.Ala414=)
c.1300G= (p.Ala434=)
19g.18786055C>GCA404884681COMPc.1399G>C (p.Ala467Pro)
c.1240G>C (p.Ala414Pro)
c.1300G>C (p.Ala434Pro)
19g.18786055C>TCA404884685COMPc.1399G>A (p.Ala467Thr)
c.1240G>A (p.Ala414Thr)
c.1300G>A (p.Ala434Thr)
19g.18786056A>CCA404884689COMPc.1398T>G (p.Asp466Glu)
c.1239T>G (p.Asp413Glu)
c.1299T>G (p.Asp433Glu)
19g.18786056A>GCA506117454COMPc.1398T>C (p.Asp466=)
c.1239T>C (p.Asp413=)
c.1299T>C (p.Asp433=)
 gnomAD v4
19g.18786056A>TCA404884690COMPc.1398T>A (p.Asp466Glu)
c.1239T>A (p.Asp413Glu)
c.1299T>A (p.Asp433Glu)
19g.18786057delCA2576725780COMPc.1397del (p.Asp466ValfsTer?)
c.1238del (p.Asp413ValfsTer?)
c.1298del (p.Asp433ValfsTer?)
19g.18786057T>ACA404884692COMPc.1397A>T (p.Asp466Val)
c.1238A>T (p.Asp413Val)
c.1298A>T (p.Asp433Val)
19g.18786057T>CCA404884694COMPc.1397A>G (p.Asp466Gly)
c.1238A>G (p.Asp413Gly)
c.1298A>G (p.Asp433Gly)
19g.18786057T>GCA404884695COMPc.1397A>C (p.Asp466Ala)
c.1238A>C (p.Asp413Ala)
c.1298A>C (p.Asp433Ala)
19g.18786058C>ACA404884702COMPc.1396G>T (p.Asp466Tyr)
c.1237G>T (p.Asp413Tyr)
c.1297G>T (p.Asp433Tyr)
19g.18786058C>GCA404884704COMPc.1396G>C (p.Asp466His)
c.1237G>C (p.Asp413His)
c.1297G>C (p.Asp433His)
19g.18786058C>TCA404884711COMPc.1396G>A (p.Asp466Asn)
c.1237G>A (p.Asp413Asn)
c.1297G>A (p.Asp433Asn)
19g.18786059A>CCA506117456COMPc.1395T>G (p.Gly465=)
c.1236T>G (p.Gly412=)
c.1296T>G (p.Gly432=)
19g.18786059A>GCA506117457COMPc.1395T>C (p.Gly465=)
c.1236T>C (p.Gly412=)
c.1296T>C (p.Gly432=)
19g.18786059A>TCA506117459COMPc.1395T>A (p.Gly465=)
c.1236T>A (p.Gly412=)
c.1296T>A (p.Gly432=)
19g.18786060C>ACA404884725COMPc.1394G>T (p.Gly465Val)
c.1235G>T (p.Gly412Val)
c.1295G>T (p.Gly432Val)
 ClinVar dbSNP
19g.18786060C>GCA404884718COMPc.1394G>C (p.Gly465Ala)
c.1235G>C (p.Gly412Ala)
c.1295G>C (p.Gly432Ala)
19g.18786060C>TCA404884715COMPc.1394G>A (p.Gly465Asp)
c.1235G>A (p.Gly412Asp)
c.1295G>A (p.Gly432Asp)
19g.18786061C>ACA404884728COMPc.1393G>T (p.Gly465Cys)
c.1234G>T (p.Gly412Cys)
c.1294G>T (p.Gly432Cys)
19g.18786061C>GCA404884729COMPc.1393G>C (p.Gly465Arg)
c.1234G>C (p.Gly412Arg)
c.1294G>C (p.Gly432Arg)
19g.18786061C>TCA404884730COMPc.1393G>A (p.Gly465Ser)
c.1234G>A (p.Gly412Ser)
c.1294G>A (p.Gly432Ser)
 ClinVar dbSNP
19g.18786062C>ACA404884731COMPc.1392G>T (p.Gln464His)
c.1233G>T (p.Gln411His)
c.1293G>T (p.Gln431His)
19g.18786062C>GCA404884733COMPc.1392G>C (p.Gln464His)
c.1233G>C (p.Gln411His)
c.1293G>C (p.Gln431His)
 gnomAD v4
19g.18786062C>TCA506117460COMPc.1392G>A (p.Gln464=)
c.1233G>A (p.Gln411=)
c.1293G>A (p.Gln431=)
 gnomAD v4
19g.18786063T>ACA404884737COMPc.1391A>T (p.Gln464Leu)
c.1232A>T (p.Gln411Leu)
c.1292A>T (p.Gln431Leu)
19g.18786063T>CCA404884736COMPc.1391A>G (p.Gln464Arg)
c.1232A>G (p.Gln411Arg)
c.1292A>G (p.Gln431Arg)
19g.18786063T>GCA404884735COMPc.1391A>C (p.Gln464Pro)
c.1232A>C (p.Gln411Pro)
c.1292A>C (p.Gln431Pro)
19g.18786064G>ACA404884739COMPc.1390C>T (p.Gln464Ter)
c.1231C>T (p.Gln411Ter)
c.1291C>T (p.Gln431Ter)
19g.18786064G>CCA404884744COMPc.1390C>G (p.Gln464Glu)
c.1231C>G (p.Gln411Glu)
c.1291C>G (p.Gln431Glu)
19g.18786064G>TCA404884748COMPc.1390C>A (p.Gln464Lys)
c.1231C>A (p.Gln411Lys)
c.1291C>A (p.Gln431Lys)
19g.18786065G>ACA506117462COMPc.1389C>T (p.Gly463=)
c.1230C>T (p.Gly410=)
c.1290C>T (p.Gly430=)
19g.18786065G>CCA506117463COMPc.1389C>G (p.Gly463=)
c.1230C>G (p.Gly410=)
c.1290C>G (p.Gly430=)
19g.18786065G>TCA506117464COMPc.1389C>A (p.Gly463=)
c.1230C>A (p.Gly410=)
c.1290C>A (p.Gly430=)
19g.18786066C>ACA306255348COMPc.1388G>T (p.Gly463Val)
c.1229G>T (p.Gly410Val)
c.1289G>T (p.Gly430Val)
 dbSNP gnomAD v3 gnomAD v4
19g.18786066C=CA2326525549COMPc.1388G= (p.Gly463=)
c.1229G= (p.Gly410=)
c.1289G= (p.Gly430=)
19g.18786066C>GCA9316429COMPc.1388G>C (p.Gly463Ala)
c.1229G>C (p.Gly410Ala)
c.1289G>C (p.Gly430Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18786066C>TCA404884761COMPc.1388G>A (p.Gly463Asp)
c.1229G>A (p.Gly410Asp)
c.1289G>A (p.Gly430Asp)
19g.18786067C>ACA404884763COMPc.1387G>T (p.Gly463Cys)
c.1228G>T (p.Gly410Cys)
c.1288G>T (p.Gly430Cys)
19g.18786067C>GCA404884767COMPc.1387G>C (p.Gly463Arg)
c.1228G>C (p.Gly410Arg)
c.1288G>C (p.Gly430Arg)
19g.18786067C>TCA404884765COMPc.1387G>A (p.Gly463Ser)
c.1228G>A (p.Gly410Ser)
c.1288G>A (p.Gly430Ser)
19g.18786068A>CCA404884769COMPc.1386T>G (p.Asp462Glu)
c.1227T>G (p.Asp409Glu)
c.1287T>G (p.Asp429Glu)
19g.18786068A>GCA506117466COMPc.1386T>C (p.Asp462=)
c.1227T>C (p.Asp409=)
c.1287T>C (p.Asp429=)
19g.18786068A>TCA404884770COMPc.1386T>A (p.Asp462Glu)
c.1227T>A (p.Asp409Glu)
c.1287T>A (p.Asp429Glu)
 gnomAD v4
19g.18786069T>ACA404884777COMPc.1385A>T (p.Asp462Val)
c.1226A>T (p.Asp409Val)
c.1286A>T (p.Asp429Val)
19g.18786069T>CCA404884783COMPc.1385A>G (p.Asp462Gly)
c.1226A>G (p.Asp409Gly)
c.1286A>G (p.Asp429Gly)
19g.18786069T>GCA404884786COMPc.1385A>C (p.Asp462Ala)
c.1226A>C (p.Asp409Ala)
c.1286A>C (p.Asp429Ala)
19g.18786070C>ACA404884787COMPc.1384G>T (p.Asp462Tyr)
c.1225G>T (p.Asp409Tyr)
c.1285G>T (p.Asp429Tyr)
 ClinVar
19g.18786070C=CA2326525550COMPc.1384G= (p.Asp462=)
c.1225G= (p.Asp409=)
c.1285G= (p.Asp429=)
19g.18786070C>GCA404884788COMPc.1384G>C (p.Asp462His)
c.1225G>C (p.Asp409His)
c.1285G>C (p.Asp429His)
 gnomAD v4
19g.18786070C>TCA306255349COMPc.1384G>A (p.Asp462Asn)
c.1225G>A (p.Asp409Asn)
c.1285G>A (p.Asp429Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18786071G>ACA506117468COMPc.1383C>T (p.His461=)
c.1224C>T (p.His408=)
c.1284C>T (p.His428=)
 dbSNP gnomAD v2 gnomAD v4
19g.18786071G>CCA404884799COMPc.1383C>G (p.His461Gln)
c.1224C>G (p.His408Gln)
c.1284C>G (p.His428Gln)
19g.18786071G=CA2326525551COMPc.1383C= (p.His461=)
c.1224C= (p.His408=)
c.1284C= (p.His428=)
19g.18786071G>TCA404884802COMPc.1383C>A (p.His461Gln)
c.1224C>A (p.His408Gln)
c.1284C>A (p.His428Gln)
 gnomAD v4
19g.18786072T>ACA404884815COMPc.1382A>T (p.His461Leu)
c.1223A>T (p.His408Leu)
c.1283A>T (p.His428Leu)
19g.18786072T>CCA404884808COMPc.1382A>G (p.His461Arg)
c.1223A>G (p.His408Arg)
c.1283A>G (p.His428Arg)
 dbSNP gnomAD v2
19g.18786072T>GCA404884806COMPc.1382A>C (p.His461Pro)
c.1223A>C (p.His408Pro)
c.1283A>C (p.His428Pro)
 ClinVar dbSNP
19g.18786072T=CA2326525552COMPc.1382A= (p.His461=)
c.1223A= (p.His408=)
c.1283A= (p.His428=)
19g.18786073G>ACA404884817COMPc.1381C>T (p.His461Tyr)
c.1222C>T (p.His408Tyr)
c.1282C>T (p.His428Tyr)
 dbSNP gnomAD v2 gnomAD v4
19g.18786073G>CCA404884818COMPc.1381C>G (p.His461Asp)
c.1222C>G (p.His408Asp)
c.1282C>G (p.His428Asp)
19g.18786073G=CA2326525553COMPc.1381C= (p.His461=)
c.1222C= (p.His408=)
c.1282C= (p.His428=)
19g.18786073G>TCA404884820COMPc.1381C>A (p.His461Asn)
c.1222C>A (p.His408Asn)
c.1282C>A (p.His428Asn)
 gnomAD v4
19g.18786074G>ACA506117473COMPc.1380C>T (p.Asp460=)
c.1221C>T (p.Asp407=)
c.1281C>T (p.Asp427=)
19g.18786074G>CCA404884822COMPc.1380C>G (p.Asp460Glu)
c.1221C>G (p.Asp407Glu)
c.1281C>G (p.Asp427Glu)
19g.18786074G>TCA404884825COMPc.1380C>A (p.Asp460Glu)
c.1221C>A (p.Asp407Glu)
c.1281C>A (p.Asp427Glu)
19g.18786075T>ACA404884828COMPc.1379A>T (p.Asp460Val)
c.1220A>T (p.Asp407Val)
c.1280A>T (p.Asp427Val)
19g.18786075T>CCA404884827COMPc.1379A>G (p.Asp460Gly)
c.1220A>G (p.Asp407Gly)
c.1280A>G (p.Asp427Gly)
19g.18786075T>GCA404884826COMPc.1379A>C (p.Asp460Ala)
c.1220A>C (p.Asp407Ala)
c.1280A>C (p.Asp427Ala)
19g.18786076_18786077delCA2583621973COMPc.1378_1379del (p.Asp460ProfsTer6)
c.1219_1220del (p.Asp407ProfsTer6)
c.1279_1280del (p.Asp427ProfsTer6)
 gnomAD v4
19g.18786076C>ACA404884829COMPc.1378G>T (p.Asp460Tyr)
c.1219G>T (p.Asp407Tyr)
c.1279G>T (p.Asp427Tyr)
19g.18786076C>GCA404884830COMPc.1378G>C (p.Asp460His)
c.1219G>C (p.Asp407His)
c.1279G>C (p.Asp427His)
19g.18786076C>TCA404884831COMPc.1378G>A (p.Asp460Asn)
c.1219G>A (p.Asp407Asn)
c.1279G>A (p.Asp427Asn)
19g.18786077T>ACA506117478COMPc.1377A>T (p.Ser459=)
c.1218A>T (p.Ser406=)
c.1278A>T (p.Ser426=)
19g.18786077T>CCA506117477COMPc.1377A>G (p.Ser459=)
c.1218A>G (p.Ser406=)
c.1278A>G (p.Ser426=)
19g.18786077T>GCA506117476COMPc.1377A>C (p.Ser459=)
c.1218A>C (p.Ser406=)
c.1278A>C (p.Ser426=)
19g.18786077_18786079delCA2580096755COMPc.1375_1377del (p.Ser459del)
c.1216_1218del (p.Ser406del)
c.1276_1278del (p.Ser426del)
 ClinVar dbSNP
19g.18786078G>ACA9316430COMPc.1376C>T (p.Ser459Leu)
c.1217C>T (p.Ser406Leu)
c.1277C>T (p.Ser426Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18786078G>CCA404884832COMPc.1376C>G (p.Ser459Ter)
c.1217C>G (p.Ser406Ter)
c.1277C>G (p.Ser426Ter)
19g.18786078G=CA2326525554COMPc.1376C= (p.Ser459=)
c.1217C= (p.Ser406=)
c.1277C= (p.Ser426=)
19g.18786078G>TCA404884833COMPc.1376C>A (p.Ser459Ter)
c.1217C>A (p.Ser406Ter)
c.1277C>A (p.Ser426Ter)
19g.18786079A=CA2326525555COMPc.1375T= (p.Ser459=)
c.1216T= (p.Ser406=)
c.1276T= (p.Ser426=)
19g.18786079A>CCA404884838COMPc.1375T>G (p.Ser459Ala)
c.1216T>G (p.Ser406Ala)
c.1276T>G (p.Ser426Ala)
19g.18786079A>GCA9316431COMPc.1375T>C (p.Ser459Pro)
c.1216T>C (p.Ser406Pro)
c.1276T>C (p.Ser426Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18786079A>TCA404884836COMPc.1375T>A (p.Ser459Thr)
c.1216T>A (p.Ser406Thr)
c.1276T>A (p.Ser426Thr)
19g.18786080G>ACA506117479COMPc.1374C>T (p.Asp458=)
c.1215C>T (p.Asp405=)
c.1275C>T (p.Asp425=)
19g.18786080G>CCA404884839COMPc.1374C>G (p.Asp458Glu)
c.1215C>G (p.Asp405Glu)
c.1275C>G (p.Asp425Glu)
19g.18786080G>TCA404884840COMPc.1374C>A (p.Asp458Glu)
c.1215C>A (p.Asp405Glu)
c.1275C>A (p.Asp425Glu)
19g.18786080_18786083delinsGTCCCA2326525556COMPc.1371_1374delinsGGAC (p.Glu457=)
c.1212_1215delinsGGAC (p.Glu404=)
c.1272_1275delinsGGAC (p.Glu424=)
19g.18786080_18786081insCCACA2583621977COMPc.1373_1374insTGG (p.Asp458_Ser459insGly)
c.1214_1215insTGG (p.Asp405_Ser406insGly)
c.1274_1275insTGG (p.Asp425_Ser426insGly)
 gnomAD v4
19g.18786081T>ACA404884843COMPc.1373A>T (p.Asp458Val)
c.1214A>T (p.Asp405Val)
c.1274A>T (p.Asp425Val)
19g.18786081T>CCA404884845COMPc.1373A>G (p.Asp458Gly)
c.1214A>G (p.Asp405Gly)
c.1274A>G (p.Asp425Gly)
 ClinVar
19g.18786081T>GCA404884847COMPc.1373A>C (p.Asp458Ala)
c.1214A>C (p.Asp405Ala)
c.1274A>C (p.Asp425Ala)
19g.18786085_18786087delCA915952950COMPc.1371_1373del (p.Glu457del)
c.1212_1214del (p.Glu404del)
c.1272_1274del (p.Glu424del)
 ClinVar dbSNP
19g.18786082C>ACA404884849COMPc.1372G>T (p.Asp458Tyr)
c.1213G>T (p.Asp405Tyr)
c.1273G>T (p.Asp425Tyr)
 ClinVar
19g.18786082C>GCA404884850COMPc.1372G>C (p.Asp458His)
c.1213G>C (p.Asp405His)
c.1273G>C (p.Asp425His)
19g.18786082C>TCA404884851COMPc.1372G>A (p.Asp458Asn)
c.1213G>A (p.Asp405Asn)
c.1273G>A (p.Asp425Asn)
 gnomAD v4
19g.18786083C>ACA404884853COMPc.1371G>T (p.Glu457Asp)
c.1212G>T (p.Glu404Asp)
c.1272G>T (p.Glu424Asp)
19g.18786083C>GCA404884860COMPc.1371G>C (p.Glu457Asp)
c.1212G>C (p.Glu404Asp)
c.1272G>C (p.Glu424Asp)
19g.18786083C>TCA506117482COMPc.1371G>A (p.Glu457=)
c.1212G>A (p.Glu404=)
c.1272G>A (p.Glu424=)
19g.18786084T>ACA404884863COMPc.1370A>T (p.Glu457Val)
c.1211A>T (p.Glu404Val)
c.1271A>T (p.Glu424Val)
19g.18786084T>CCA404884867COMPc.1370A>G (p.Glu457Gly)
c.1211A>G (p.Glu404Gly)
c.1271A>G (p.Glu424Gly)
 gnomAD v4
19g.18786084T>GCA404884868COMPc.1370A>C (p.Glu457Ala)
c.1211A>C (p.Glu404Ala)
c.1271A>C (p.Glu424Ala)
19g.18786085C>ACA404884869COMPc.1369G>T (p.Glu457Ter)
c.1210G>T (p.Glu404Ter)
c.1270G>T (p.Glu424Ter)
19g.18786085C>GCA404884871COMPc.1369G>C (p.Glu457Gln)
c.1210G>C (p.Glu404Gln)
c.1270G>C (p.Glu424Gln)
19g.18786085C>TCA404884870COMPc.1369G>A (p.Glu457Lys)
c.1210G>A (p.Glu404Lys)
c.1270G>A (p.Glu424Lys)
 gnomAD v4 COSMIC
19g.18786086C>ACA404884874COMPc.1368G>T (p.Gln456His)
c.1209G>T (p.Gln403His)
c.1269G>T (p.Gln423His)
19g.18786086C>GCA404884875COMPc.1368G>C (p.Gln456His)
c.1209G>C (p.Gln403His)
c.1269G>C (p.Gln423His)
19g.18786086C>TCA506117485COMPc.1368G>A (p.Gln456=)
c.1209G>A (p.Gln403=)
c.1269G>A (p.Gln423=)
19g.18786086_18786088delCA2695228431COMPc.1366_1368del (p.Gln456del)
c.1207_1209del (p.Gln403del)
c.1267_1269del (p.Gln423del)
19g.18786087T>ACA404884877COMPc.1367A>T (p.Gln456Leu)
c.1208A>T (p.Gln403Leu)
c.1268A>T (p.Gln423Leu)
19g.18786087T>CCA404884879COMPc.1367A>G (p.Gln456Arg)
c.1208A>G (p.Gln403Arg)
c.1268A>G (p.Gln423Arg)
19g.18786087T>GCA404884883COMPc.1367A>C (p.Gln456Pro)
c.1208A>C (p.Gln403Pro)
c.1268A>C (p.Gln423Pro)
 ClinVar dbSNP
19g.18786088G>ACA404884887COMPc.1366C>T (p.Gln456Ter)
c.1207C>T (p.Gln403Ter)
c.1267C>T (p.Gln423Ter)
19g.18786088G>CCA404884889COMPc.1366C>G (p.Gln456Glu)
c.1207C>G (p.Gln403Glu)
c.1267C>G (p.Gln423Glu)
19g.18786088G=CA2326525557COMPc.1366C= (p.Gln456=)
c.1207C= (p.Gln403=)
c.1267C= (p.Gln423=)
19g.18786088G>TCA404884894COMPc.1366C>A (p.Gln456Lys)
c.1207C>A (p.Gln403Lys)
c.1267C>A (p.Gln423Lys)
 dbSNP gnomAD v4
19g.18786089G>ACA506117486COMPc.1365C>T (p.Ala455=)
c.1206C>T (p.Ala402=)
c.1266C>T (p.Ala422=)
19g.18786089G>CCA506117487COMPc.1365C>G (p.Ala455=)
c.1206C>G (p.Ala402=)
c.1266C>G (p.Ala422=)
19g.18786089G>TCA506117488COMPc.1365C>A (p.Ala455=)
c.1206C>A (p.Ala402=)
c.1266C>A (p.Ala422=)
19g.18786090G>ACA404884897COMPc.1364C>T (p.Ala455Val)
c.1205C>T (p.Ala402Val)
c.1265C>T (p.Ala422Val)
 dbSNP gnomAD v3 gnomAD v4
19g.18786090G>CCA404884899COMPc.1364C>G (p.Ala455Gly)
c.1205C>G (p.Ala402Gly)
c.1265C>G (p.Ala422Gly)
19g.18786090G=CA2326525558COMPc.1364C= (p.Ala455=)
c.1205C= (p.Ala402=)
c.1265C= (p.Ala422=)
19g.18786090G>TCA404884901COMPc.1364C>A (p.Ala455Asp)
c.1205C>A (p.Ala402Asp)
c.1265C>A (p.Ala422Asp)
 gnomAD v4
19g.18786091C>ACA404884913COMPc.1363G>T (p.Ala455Ser)
c.1204G>T (p.Ala402Ser)
c.1264G>T (p.Ala422Ser)
19g.18786091C>GCA404884907COMPc.1363G>C (p.Ala455Pro)
c.1204G>C (p.Ala402Pro)
c.1264G>C (p.Ala422Pro)
19g.18786091C>TCA404884904COMPc.1363G>A (p.Ala455Thr)
c.1204G>A (p.Ala402Thr)
c.1264G>A (p.Ala422Thr)
 ClinVar gnomAD v4
19g.18786092A>CCA404884915COMPc.1362T>G (p.Ser454Arg)
c.1203T>G (p.Ser401Arg)
c.1263T>G (p.Ser421Arg)
19g.18786092A>GCA506117490COMPc.1362T>C (p.Ser454=)
c.1203T>C (p.Ser401=)
c.1263T>C (p.Ser421=)
19g.18786092A>TCA404884916COMPc.1362T>A (p.Ser454Arg)
c.1203T>A (p.Ser401Arg)
c.1263T>A (p.Ser421Arg)
19g.18786093C>ACA404884917COMPc.1361G>T (p.Ser454Ile)
c.1202G>T (p.Ser401Ile)
c.1262G>T (p.Ser421Ile)
19g.18786093C=CA2326525559COMPc.1361G= (p.Ser454=)
c.1202G= (p.Ser401=)
c.1262G= (p.Ser421=)
19g.18786093C>GCA404884918COMPc.1361G>C (p.Ser454Thr)
c.1202G>C (p.Ser401Thr)
c.1262G>C (p.Ser421Thr)
 gnomAD v4
19g.18786093C>TCA404884919COMPc.1361G>A (p.Ser454Asn)
c.1202G>A (p.Ser401Asn)
c.1262G>A (p.Ser421Asn)
 dbSNP
19g.18786093_18786094delCA2695228432COMPc.1360_1361del (p.Ser454CysfsTer12)
c.1201_1202del (p.Ser401CysfsTer12)
c.1261_1262del (p.Ser421CysfsTer12)
19g.18786094T>ACA404884927COMPc.1360A>T (p.Ser454Cys)
c.1201A>T (p.Ser401Cys)
c.1261A>T (p.Ser421Cys)
19g.18786094T>CCA404884936COMPc.1360A>G (p.Ser454Gly)
c.1201A>G (p.Ser401Gly)
c.1261A>G (p.Ser421Gly)
 gnomAD v4
19g.18786094T>GCA404884937COMPc.1360A>C (p.Ser454Arg)
c.1201A>C (p.Ser401Arg)
c.1261A>C (p.Ser421Arg)
19g.18786095G>ACA506117492COMPc.1359C>T (p.Asn453=)
c.1200C>T (p.Asn400=)
c.1260C>T (p.Asn420=)
19g.18786095G>CCA404884949COMPc.1359C>G (p.Asn453Lys)
c.1200C>G (p.Asn400Lys)
c.1260C>G (p.Asn420Lys)
 ClinVar dbSNP
19g.18786095G>TCA404884950COMPc.1359C>A (p.Asn453Lys)
c.1200C>A (p.Asn400Lys)
c.1260C>A (p.Asn420Lys)
19g.18786096T>ACA404884954COMPc.1358A>T (p.Asn453Ile)
c.1199A>T (p.Asn400Ile)
c.1259A>T (p.Asn420Ile)
19g.18786096T>CCA120168COMPc.1358A>G (p.Asn453Ser)
c.1199A>G (p.Asn400Ser)
c.1259A>G (p.Asn420Ser)
 ClinVar dbSNP
19g.18786096T>GCA404884957COMPc.1358A>C (p.Asn453Thr)
c.1199A>C (p.Asn400Thr)
c.1259A>C (p.Asn420Thr)
 ClinVar
19g.18786096T=CA2326525560COMPc.1358A= (p.Asn453=)
c.1199A= (p.Asn400=)
c.1259A= (p.Asn420=)
19g.18786097T>ACA404884979COMPc.1357A>T (p.Asn453Tyr)
c.1198A>T (p.Asn400Tyr)
c.1258A>T (p.Asn420Tyr)
19g.18786097T>CCA404884981COMPc.1357A>G (p.Asn453Asp)
c.1198A>G (p.Asn400Asp)
c.1258A>G (p.Asn420Asp)
19g.18786097T>GCA404884973COMPc.1357A>C (p.Asn453His)
c.1198A>C (p.Asn400His)
c.1258A>C (p.Asn420His)
19g.18786098A>CCA506052692COMPc.1356T>G (p.Pro452=)
c.1197T>G (p.Pro399=)
c.1257T>G (p.Pro419=)
19g.18786098A>GCA506052693COMPc.1356T>C (p.Pro452=)
c.1197T>C (p.Pro399=)
c.1257T>C (p.Pro419=)
19g.18786098A>TCA506052694COMPc.1356T>A (p.Pro452=)
c.1197T>A (p.Pro399=)
c.1257T>A (p.Pro419=)

Number of alleles fetched