Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18785655_18785656insAGTGACA2838472911COMPc.1668+17_1668+18insTCACT (n.1668+17_1668+18insTCACT)
c.1509+17_1509+18insTCACT (n.1509+17_1509+18insTCACT)
c.1569+17_1569+18insTCACT (n.1569+17_1569+18insTCACT)
19g.18785656G>ACA2326525307COMPc.1668+17C>T (n.1668+17C>T)
c.1509+17C>T (n.1509+17C>T)
c.1569+17C>T (n.1569+17C>T)
 dbSNP
19g.18785656G=CA2326525306COMPc.1668+17C= (n.1668+17C=)
c.1509+17C= (n.1509+17C=)
c.1569+17C= (n.1569+17C=)
19g.18785657T>GCA783972370COMPc.1668+16A>C (n.1668+16A>C)
c.1509+16A>C (n.1509+16A>C)
c.1569+16A>C (n.1569+16A>C)
 dbSNP
19g.18785657T=CA2326525308COMPc.1668+16A= (n.1668+16A=)
c.1509+16A= (n.1509+16A=)
c.1569+16A= (n.1569+16A=)
19g.18785659delCA2838268670COMPc.1668+15del (n.1668+15del)
c.1509+15del (n.1509+15del)
c.1569+15del (n.1569+15del)
19g.18785660A=CA2326525309COMPc.1668+13T= (n.1668+13T=)
c.1509+13T= (n.1509+13T=)
c.1569+13T= (n.1569+13T=)
19g.18785660A>CCA9316333COMPc.1668+13T>G (n.1668+13T>G)
c.1509+13T>G (n.1509+13T>G)
c.1569+13T>G (n.1569+13T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785660A>GCA2581361085COMPc.1668+13T>C (n.1668+13T>C)
c.1509+13T>C (n.1509+13T>C)
c.1569+13T>C (n.1569+13T>C)
19g.18785660A>TCA9316334COMPc.1668+13T>A (n.1668+13T>A)
c.1509+13T>A (n.1509+13T>A)
c.1569+13T>A (n.1569+13T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785661C>ACA2582001293COMPc.1668+12G>T (n.1668+12G>T)
c.1509+12G>T (n.1509+12G>T)
c.1569+12G>T (n.1569+12G>T)
 gnomAD v3 gnomAD v4
19g.18785661C>GCA2583621873COMPc.1668+12G>C (n.1668+12G>C)
c.1509+12G>C (n.1509+12G>C)
c.1569+12G>C (n.1569+12G>C)
 gnomAD v4
19g.18785661C>TCA2576725766COMPc.1668+12G>A (n.1668+12G>A)
c.1509+12G>A (n.1509+12G>A)
c.1569+12G>A (n.1569+12G>A)
 gnomAD v4
19g.18785662_18785666dupCA632626585COMPc.1668+8_1668+12dup (n.1668+8_1668+12dup)
c.1509+8_1509+12dup (n.1509+8_1509+12dup)
c.1569+8_1569+12dup (n.1569+8_1569+12dup)
 dbSNP gnomAD v2 gnomAD v4
19g.18785662C=CA2326525310COMPc.1668+11G= (n.1668+11G=)
c.1509+11G= (n.1509+11G=)
c.1569+11G= (n.1569+11G=)
19g.18785662C>TCA306254510COMPc.1668+11G>A (n.1668+11G>A)
c.1509+11G>A (n.1509+11G>A)
c.1569+11G>A (n.1569+11G>A)
 dbSNP gnomAD v4
19g.18785663C>ACA2839103382COMPc.1668+10G>T (n.1668+10G>T)
c.1509+10G>T (n.1509+10G>T)
c.1569+10G>T (n.1569+10G>T)
19g.18785663C>TCA2583621874COMPc.1668+10G>A (n.1668+10G>A)
c.1509+10G>A (n.1509+10G>A)
c.1569+10G>A (n.1569+10G>A)
 gnomAD v4
19g.18785664C>ACA2735643879COMPc.1668+9G>T (n.1668+9G>T)
c.1509+9G>T (n.1509+9G>T)
c.1569+9G>T (n.1569+9G>T)
 dbSNP
19g.18785664C=CA2326525311COMPc.1668+9G= (n.1668+9G=)
c.1509+9G= (n.1509+9G=)
c.1569+9G= (n.1569+9G=)
19g.18785664C>GCA783972379COMPc.1668+9G>C (n.1668+9G>C)
c.1509+9G>C (n.1509+9G>C)
c.1569+9G>C (n.1569+9G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.18785665G>ACA2583621875COMPc.1668+8C>T (n.1668+8C>T)
c.1509+8C>T (n.1509+8C>T)
c.1569+8C>T (n.1569+8C>T)
 gnomAD v4
19g.18785665G=CA2326525312COMPc.1668+8C= (n.1668+8C=)
c.1509+8C= (n.1509+8C=)
c.1569+8C= (n.1569+8C=)
19g.18785665G>TCA2326525313COMPc.1668+8C>A (n.1668+8C>A)
c.1509+8C>A (n.1509+8C>A)
c.1569+8C>A (n.1569+8C>A)
 dbSNP
19g.18785666C>ACA2583621876COMPc.1668+7G>T (n.1668+7G>T)
c.1509+7G>T (n.1509+7G>T)
c.1569+7G>T (n.1569+7G>T)
 gnomAD v4
19g.18785666C=CA2326525314COMPc.1668+7G= (n.1668+7G=)
c.1509+7G= (n.1509+7G=)
c.1569+7G= (n.1569+7G=)
19g.18785666C>TCA632626586COMPc.1668+7G>A (n.1668+7G>A)
c.1509+7G>A (n.1509+7G>A)
c.1569+7G>A (n.1569+7G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18785668C=CA2326525315COMPc.1668+5G= (n.1668+5G=)
c.1509+5G= (n.1509+5G=)
c.1569+5G= (n.1569+5G=)
19g.18785668C>TCA632626587COMPc.1668+5G>A (n.1668+5G>A)
c.1509+5G>A (n.1509+5G>A)
c.1569+5G>A (n.1569+5G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18785669C=CA2326525316COMPc.1668+4G= (n.1668+4G=)
c.1509+4G= (n.1509+4G=)
c.1569+4G= (n.1569+4G=)
19g.18785669C>TCA9316335COMPc.1668+4G>A (n.1668+4G>A)
c.1509+4G>A (n.1509+4G>A)
c.1569+4G>A (n.1569+4G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785670C=CA2326525317COMPc.1668+3G= (n.1668+3G=)
c.1509+3G= (n.1509+3G=)
c.1569+3G= (n.1569+3G=)
19g.18785670C>TCA2583621877COMPc.1668+3G>A (n.1668+3G>A)
c.1509+3G>A (n.1509+3G>A)
c.1569+3G>A (n.1569+3G>A)
 gnomAD v4
19g.18785671A>CCA404882026COMPc.1668+2T>G (n.1668+2T>G)
c.1509+2T>G (n.1509+2T>G)
c.1569+2T>G (n.1569+2T>G)
19g.18785671A>GCA404882032COMPc.1668+2T>C (n.1668+2T>C)
c.1509+2T>C (n.1509+2T>C)
c.1569+2T>C (n.1569+2T>C)
 gnomAD v4
19g.18785671A>TCA404882034COMPc.1668+2T>A (n.1668+2T>A)
c.1509+2T>A (n.1509+2T>A)
c.1569+2T>A (n.1569+2T>A)
 gnomAD v4
19g.18785671dupCA2326525318COMPc.1668+2dup (n.1668+2dup)
c.1509+2dup (n.1509+2dup)
c.1569+2dup (n.1569+2dup)
 dbSNP
19g.18785672C>ACA9316336COMPc.1668+1G>T (n.1668+1G>T)
c.1509+1G>T (n.1509+1G>T)
c.1569+1G>T (n.1569+1G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785672C=CA2326525319COMPc.1668+1G= (n.1668+1G=)
c.1509+1G= (n.1509+1G=)
c.1569+1G= (n.1569+1G=)
19g.18785672C>GCA404882038COMPc.1668+1G>C (n.1668+1G>C)
c.1509+1G>C (n.1509+1G>C)
c.1569+1G>C (n.1569+1G>C)
19g.18785672C>TCA404882044COMPc.1668+1G>A (n.1668+1G>A)
c.1509+1G>A (n.1509+1G>A)
c.1569+1G>A (n.1569+1G>A)
19g.18785673delCA2583621878COMPc.1668+1del
c.1509+1del
c.1569+1del
 gnomAD v4
19g.18785673C>ACA404882055COMPc.1668G>T (p.Gln556His)
c.1509G>T (p.Gln503His)
c.1569G>T (p.Gln523His)
19g.18785673C>GCA404882060COMPc.1668G>C (p.Gln556His)
c.1509G>C (p.Gln503His)
c.1569G>C (p.Gln523His)
19g.18785673C>TCA506117238COMPc.1668G>A (p.Gln556=)
c.1509G>A (p.Gln503=)
c.1569G>A (p.Gln523=)
19g.18785674T>ACA404882062COMPc.1667A>T (p.Gln556Leu)
c.1508A>T (p.Gln503Leu)
c.1568A>T (p.Gln523Leu)
19g.18785674T>CCA404882066COMPc.1667A>G (p.Gln556Arg)
c.1508A>G (p.Gln503Arg)
c.1568A>G (p.Gln523Arg)
19g.18785674T>GCA404882067COMPc.1667A>C (p.Gln556Pro)
c.1508A>C (p.Gln503Pro)
c.1568A>C (p.Gln523Pro)
19g.18785675G>ACA404882071COMPc.1666C>T (p.Gln556Ter)
c.1507C>T (p.Gln503Ter)
c.1567C>T (p.Gln523Ter)
 ClinVar dbSNP
19g.18785675G>CCA404882073COMPc.1666C>G (p.Gln556Glu)
c.1507C>G (p.Gln503Glu)
c.1567C>G (p.Gln523Glu)
19g.18785675G=CA2326525320COMPc.1666C= (p.Gln556=)
c.1507C= (p.Gln503=)
c.1567C= (p.Gln523=)
19g.18785675G>TCA404882076COMPc.1666C>A (p.Gln556Lys)
c.1507C>A (p.Gln503Lys)
c.1567C>A (p.Gln523Lys)
19g.18785676G>ACA506117243COMPc.1665C>T (p.Asn555=)
c.1506C>T (p.Asn502=)
c.1566C>T (p.Asn522=)
19g.18785676G>CCA404882077COMPc.1665C>G (p.Asn555Lys)
c.1506C>G (p.Asn502Lys)
c.1566C>G (p.Asn522Lys)
 ClinVar
19g.18785676G=CA2326525321COMPc.1665C= (p.Asn555=)
c.1506C= (p.Asn502=)
c.1566C= (p.Asn522=)
19g.18785676G>TCA344886COMPc.1665C>A (p.Asn555Lys)
c.1506C>A (p.Asn502Lys)
c.1566C>A (p.Asn522Lys)
 ClinVar dbSNP
19g.18785677T>ACA404882078COMPc.1664A>T (p.Asn555Ile)
c.1505A>T (p.Asn502Ile)
c.1565A>T (p.Asn522Ile)
19g.18785677T>CCA404882080COMPc.1664A>G (p.Asn555Ser)
c.1505A>G (p.Asn502Ser)
c.1565A>G (p.Asn522Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18785677T>GCA404882082COMPc.1664A>C (p.Asn555Thr)
c.1505A>C (p.Asn502Thr)
c.1565A>C (p.Asn522Thr)
19g.18785677T=CA2326525322COMPc.1664A= (p.Asn555=)
c.1505A= (p.Asn502=)
c.1565A= (p.Asn522=)
19g.18785678T>ACA404882085COMPc.1663A>T (p.Asn555Tyr)
c.1504A>T (p.Asn502Tyr)
c.1564A>T (p.Asn522Tyr)
19g.18785678T>CCA404882090COMPc.1663A>G (p.Asn555Asp)
c.1504A>G (p.Asn502Asp)
c.1564A>G (p.Asn522Asp)
19g.18785678T>GCA404882089COMPc.1663A>C (p.Asn555His)
c.1504A>C (p.Asn502His)
c.1564A>C (p.Asn522His)
19g.18785679G>ACA506117248COMPc.1662C>T (p.Leu554=)
c.1503C>T (p.Leu501=)
c.1563C>T (p.Leu521=)
19g.18785679G>CCA506117250COMPc.1662C>G (p.Leu554=)
c.1503C>G (p.Leu501=)
c.1563C>G (p.Leu521=)
19g.18785679G>TCA506117252COMPc.1662C>A (p.Leu554=)
c.1503C>A (p.Leu501=)
c.1563C>A (p.Leu521=)
19g.18785680A>CCA404882091COMPc.1661T>G (p.Leu554Arg)
c.1502T>G (p.Leu501Arg)
c.1562T>G (p.Leu521Arg)
19g.18785680A>GCA404882098COMPc.1661T>C (p.Leu554Pro)
c.1502T>C (p.Leu501Pro)
c.1562T>C (p.Leu521Pro)
 gnomAD v4
19g.18785680A>TCA404882099COMPc.1661T>A (p.Leu554His)
c.1502T>A (p.Leu501His)
c.1562T>A (p.Leu521His)
19g.18785681G>ACA404882107COMPc.1660C>T (p.Leu554Phe)
c.1501C>T (p.Leu501Phe)
c.1561C>T (p.Leu521Phe)
 dbSNP gnomAD v2 gnomAD v4
19g.18785681G>CCA404882108COMPc.1660C>G (p.Leu554Val)
c.1501C>G (p.Leu501Val)
c.1561C>G (p.Leu521Val)
 gnomAD v4
19g.18785681G=CA2326525323COMPc.1660C= (p.Leu554=)
c.1501C= (p.Leu501=)
c.1561C= (p.Leu521=)
19g.18785681G>TCA404882109COMPc.1660C>A (p.Leu554Ile)
c.1501C>A (p.Leu501Ile)
c.1561C>A (p.Leu521Ile)
19g.18785682C>ACA506117254COMPc.1659G>T (p.Val553=)
c.1500G>T (p.Val500=)
c.1560G>T (p.Val520=)
19g.18785682C>GCA506117256COMPc.1659G>C (p.Val553=)
c.1500G>C (p.Val500=)
c.1560G>C (p.Val520=)
19g.18785682C>TCA506117255COMPc.1659G>A (p.Val553=)
c.1500G>A (p.Val500=)
c.1560G>A (p.Val520=)
 gnomAD v4
19g.18785682_18785683insCCACA2839103383COMPc.1658_1659insTGG (p.Val553_Leu554insGly)
c.1499_1500insTGG (p.Val500_Leu501insGly)
c.1559_1560insTGG (p.Val520_Leu521insGly)
19g.18785683A>CCA404882110COMPc.1658T>G (p.Val553Gly)
c.1499T>G (p.Val500Gly)
c.1559T>G (p.Val520Gly)
19g.18785683A>GCA404882113COMPc.1658T>C (p.Val553Ala)
c.1499T>C (p.Val500Ala)
c.1559T>C (p.Val520Ala)
 gnomAD v4
19g.18785683A>TCA404882115COMPc.1658T>A (p.Val553Glu)
c.1499T>A (p.Val500Glu)
c.1559T>A (p.Val520Glu)
19g.18785684C>ACA404882118COMPc.1657G>T (p.Val553Leu)
c.1498G>T (p.Val500Leu)
c.1558G>T (p.Val520Leu)
 gnomAD v4
19g.18785684C>GCA404882119COMPc.1657G>C (p.Val553Leu)
c.1498G>C (p.Val500Leu)
c.1558G>C (p.Val520Leu)
19g.18785684C>TCA404882124COMPc.1657G>A (p.Val553Met)
c.1498G>A (p.Val500Met)
c.1558G>A (p.Val520Met)
19g.18785684_18785685insTGGGTGGTGCTCA2838268687COMPc.1656_1657insAGCACCACCCA (p.Val553SerfsTer16)
c.1497_1498insAGCACCACCCA (p.Val500SerfsTer16)
c.1557_1558insAGCACCACCCA (p.Val520SerfsTer16)
19g.18785685C>ACA506117258COMPc.1656G>T (p.Val552=)
c.1497G>T (p.Val499=)
c.1557G>T (p.Val519=)
19g.18785685C=CA2326525324COMPc.1656G= (p.Val552=)
c.1497G= (p.Val499=)
c.1557G= (p.Val519=)
19g.18785685C>GCA506117262COMPc.1656G>C (p.Val552=)
c.1497G>C (p.Val499=)
c.1557G>C (p.Val519=)
19g.18785685C>TCA9316337COMPc.1656G>A (p.Val552=)
c.1497G>A (p.Val499=)
c.1557G>A (p.Val519=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785686A>CCA404882132COMPc.1655T>G (p.Val552Gly)
c.1496T>G (p.Val499Gly)
c.1556T>G (p.Val519Gly)
19g.18785686A>GCA404882130COMPc.1655T>C (p.Val552Ala)
c.1496T>C (p.Val499Ala)
c.1556T>C (p.Val519Ala)
19g.18785686A>TCA404882131COMPc.1655T>A (p.Val552Glu)
c.1496T>A (p.Val499Glu)
c.1556T>A (p.Val519Glu)
19g.18785687C>ACA404882134COMPc.1654G>T (p.Val552Leu)
c.1495G>T (p.Val499Leu)
c.1555G>T (p.Val519Leu)
 gnomAD v4
19g.18785687C>GCA404882137COMPc.1654G>C (p.Val552Leu)
c.1495G>C (p.Val499Leu)
c.1555G>C (p.Val519Leu)
19g.18785687C>TCA404882142COMPc.1654G>A (p.Val552Met)
c.1495G>A (p.Val499Met)
c.1555G>A (p.Val519Met)
 gnomAD v4
19g.18785688C>ACA404882148COMPc.1653G>T (p.Trp551Cys)
c.1494G>T (p.Trp498Cys)
c.1554G>T (p.Trp518Cys)
19g.18785688C>GCA404882158COMPc.1653G>C (p.Trp551Cys)
c.1494G>C (p.Trp498Cys)
c.1554G>C (p.Trp518Cys)
19g.18785688C>TCA404882166COMPc.1653G>A (p.Trp551Ter)
c.1494G>A (p.Trp498Ter)
c.1554G>A (p.Trp518Ter)
19g.18785689C>ACA404882170COMPc.1652G>T (p.Trp551Leu)
c.1493G>T (p.Trp498Leu)
c.1553G>T (p.Trp518Leu)
19g.18785689C>GCA404882182COMPc.1652G>C (p.Trp551Ser)
c.1493G>C (p.Trp498Ser)
c.1553G>C (p.Trp518Ser)
19g.18785689C>TCA404882185COMPc.1652G>A (p.Trp551Ter)
c.1493G>A (p.Trp498Ter)
c.1553G>A (p.Trp518Ter)
 gnomAD v4
19g.18785690A=CA2326525325COMPc.1651T= (p.Trp551=)
c.1492T= (p.Trp498=)
c.1552T= (p.Trp518=)
19g.18785690A>CCA404882196COMPc.1651T>G (p.Trp551Gly)
c.1492T>G (p.Trp498Gly)
c.1552T>G (p.Trp518Gly)
19g.18785690A>GCA404882200COMPc.1651T>C (p.Trp551Arg)
c.1492T>C (p.Trp498Arg)
c.1552T>C (p.Trp518Arg)
 dbSNP
19g.18785690A>TCA404882206COMPc.1651T>A (p.Trp551Arg)
c.1492T>A (p.Trp498Arg)
c.1552T>A (p.Trp518Arg)
19g.18785691G>ACA506117273COMPc.1650C>T (p.Asn550=)
c.1491C>T (p.Asn497=)
c.1551C>T (p.Asn517=)
19g.18785691G>CCA9316338COMPc.1650C>G (p.Asn550Lys)
c.1491C>G (p.Asn497Lys)
c.1551C>G (p.Asn517Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785691G=CA2326525326COMPc.1650C= (p.Asn550=)
c.1491C= (p.Asn497=)
c.1551C= (p.Asn517=)
19g.18785691G>TCA404882215COMPc.1650C>A (p.Asn550Lys)
c.1491C>A (p.Asn497Lys)
c.1551C>A (p.Asn517Lys)
19g.18785692T>ACA404882216COMPc.1649A>T (p.Asn550Ile)
c.1490A>T (p.Asn497Ile)
c.1550A>T (p.Asn517Ile)
19g.18785692T>CCA404882219COMPc.1649A>G (p.Asn550Ser)
c.1490A>G (p.Asn497Ser)
c.1550A>G (p.Asn517Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785692T>GCA404882217COMPc.1649A>C (p.Asn550Thr)
c.1490A>C (p.Asn497Thr)
c.1550A>C (p.Asn517Thr)
19g.18785692T=CA2326525327COMPc.1649A= (p.Asn550=)
c.1490A= (p.Asn497=)
c.1550A= (p.Asn517=)
19g.18785693T>ACA404882234COMPc.1648A>T (p.Asn550Tyr)
c.1489A>T (p.Asn497Tyr)
c.1549A>T (p.Asn517Tyr)
19g.18785693T>CCA404882241COMPc.1648A>G (p.Asn550Asp)
c.1489A>G (p.Asn497Asp)
c.1549A>G (p.Asn517Asp)
 dbSNP gnomAD v3 gnomAD v4
19g.18785693T>GCA404882237COMPc.1648A>C (p.Asn550His)
c.1489A>C (p.Asn497His)
c.1549A>C (p.Asn517His)
19g.18785693T=CA2326525328COMPc.1648A= (p.Asn550=)
c.1489A= (p.Asn497=)
c.1549A= (p.Asn517=)
19g.18785694G>ACA506117279COMPc.1647C>T (p.Pro549=)
c.1488C>T (p.Pro496=)
c.1548C>T (p.Pro516=)
19g.18785694G>CCA506117282COMPc.1647C>G (p.Pro549=)
c.1488C>G (p.Pro496=)
c.1548C>G (p.Pro516=)
19g.18785694G>TCA506117284COMPc.1647C>A (p.Pro549=)
c.1488C>A (p.Pro496=)
c.1548C>A (p.Pro516=)
 dbSNP
19g.18785697delCA2842543151COMPc.1647del (p.Asn550ThrfsTer15)
c.1488del (p.Asn497ThrfsTer15)
c.1548del (p.Asn517ThrfsTer15)
19g.18785695G>ACA404882252COMPc.1646C>T (p.Pro549Leu)
c.1487C>T (p.Pro496Leu)
c.1547C>T (p.Pro516Leu)
19g.18785695G>CCA404882272COMPc.1646C>G (p.Pro549Arg)
c.1487C>G (p.Pro496Arg)
c.1547C>G (p.Pro516Arg)
19g.18785695G>TCA404882283COMPc.1646C>A (p.Pro549His)
c.1487C>A (p.Pro496His)
c.1547C>A (p.Pro516His)
19g.18785696G>ACA404882287COMPc.1645C>T (p.Pro549Ser)
c.1486C>T (p.Pro496Ser)
c.1546C>T (p.Pro516Ser)
19g.18785696G>CCA306254536COMPc.1645C>G (p.Pro549Ala)
c.1486C>G (p.Pro496Ala)
c.1546C>G (p.Pro516Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785696G=CA2326525329COMPc.1645C= (p.Pro549=)
c.1486C= (p.Pro496=)
c.1546C= (p.Pro516=)
19g.18785696G>TCA404882301COMPc.1645C>A (p.Pro549Thr)
c.1486C>A (p.Pro496Thr)
c.1546C>A (p.Pro516Thr)
 gnomAD v4
19g.18785697G>ACA506117289COMPc.1644C>T (p.Asp548=)
c.1485C>T (p.Asp495=)
c.1545C>T (p.Asp515=)
 gnomAD v4
19g.18785697G>CCA404882305COMPc.1644C>G (p.Asp548Glu)
c.1485C>G (p.Asp495Glu)
c.1545C>G (p.Asp515Glu)
19g.18785697G=CA2326525330COMPc.1644C= (p.Asp548=)
c.1485C= (p.Asp495=)
c.1545C= (p.Asp515=)
19g.18785697G>TCA404882307COMPc.1644C>A (p.Asp548Glu)
c.1485C>A (p.Asp495Glu)
c.1545C>A (p.Asp515Glu)
 dbSNP
19g.18785698T>ACA404882311COMPc.1643A>T (p.Asp548Val)
c.1484A>T (p.Asp495Val)
c.1544A>T (p.Asp515Val)
19g.18785698T>CCA404882313COMPc.1643A>G (p.Asp548Gly)
c.1484A>G (p.Asp495Gly)
c.1544A>G (p.Asp515Gly)
19g.18785698T>GCA404882358COMPc.1643A>C (p.Asp548Ala)
c.1484A>C (p.Asp495Ala)
c.1544A>C (p.Asp515Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.18785698T=CA2326525331COMPc.1643A= (p.Asp548=)
c.1484A= (p.Asp495=)
c.1544A= (p.Asp515=)
19g.18785699C>ACA404882367COMPc.1642G>T (p.Asp548Tyr)
c.1483G>T (p.Asp495Tyr)
c.1543G>T (p.Asp515Tyr)
19g.18785699C=CA2326525332COMPc.1642G= (p.Asp548=)
c.1483G= (p.Asp495=)
c.1543G= (p.Asp515=)
19g.18785699C>GCA404882363COMPc.1642G>C (p.Asp548His)
c.1483G>C (p.Asp495His)
c.1543G>C (p.Asp515His)
 ClinVar dbSNP
19g.18785699C>TCA404882360COMPc.1642G>A (p.Asp548Asn)
c.1483G>A (p.Asp495Asn)
c.1543G>A (p.Asp515Asn)
19g.18785700A>CCA404882370COMPc.1641T>G (p.Ile547Met)
c.1482T>G (p.Ile494Met)
c.1542T>G (p.Ile514Met)
19g.18785700A>GCA506117299COMPc.1641T>C (p.Ile547=)
c.1482T>C (p.Ile494=)
c.1542T>C (p.Ile514=)
19g.18785700A>TCA506117300COMPc.1641T>A (p.Ile547=)
c.1482T>A (p.Ile494=)
c.1542T>A (p.Ile514=)
19g.18785701A>CCA404882372COMPc.1640T>G (p.Ile547Ser)
c.1481T>G (p.Ile494Ser)
c.1541T>G (p.Ile514Ser)
19g.18785701A>GCA404882375COMPc.1640T>C (p.Ile547Thr)
c.1481T>C (p.Ile494Thr)
c.1541T>C (p.Ile514Thr)
19g.18785701A>TCA404882379COMPc.1640T>A (p.Ile547Asn)
c.1481T>A (p.Ile494Asn)
c.1541T>A (p.Ile514Asn)
19g.18785702T>ACA404882385COMPc.1639A>T (p.Ile547Phe)
c.1480A>T (p.Ile494Phe)
c.1540A>T (p.Ile514Phe)
19g.18785702T>CCA9316339COMPc.1639A>G (p.Ile547Val)
c.1480A>G (p.Ile494Val)
c.1540A>G (p.Ile514Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785702T>GCA404882391COMPc.1639A>C (p.Ile547Leu)
c.1480A>C (p.Ile494Leu)
c.1540A>C (p.Ile514Leu)
19g.18785702T=CA2326525333COMPc.1639A= (p.Ile547=)
c.1480A= (p.Ile494=)
c.1540A= (p.Ile514=)
19g.18785703C>ACA404882396COMPc.1638G>T (p.Gln546His)
c.1479G>T (p.Gln493His)
c.1539G>T (p.Gln513His)
19g.18785703C=CA2326525334COMPc.1638G= (p.Gln546=)
c.1479G= (p.Gln493=)
c.1539G= (p.Gln513=)
19g.18785703C>GCA404882401COMPc.1638G>C (p.Gln546His)
c.1479G>C (p.Gln493His)
c.1539G>C (p.Gln513His)
19g.18785703C>TCA506117303COMPc.1638G>A (p.Gln546=)
c.1479G>A (p.Gln493=)
c.1539G>A (p.Gln513=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18785704T>ACA404882407COMPc.1637A>T (p.Gln546Leu)
c.1478A>T (p.Gln493Leu)
c.1538A>T (p.Gln513Leu)
 dbSNP
19g.18785704T>CCA404882414COMPc.1637A>G (p.Gln546Arg)
c.1478A>G (p.Gln493Arg)
c.1538A>G (p.Gln513Arg)
19g.18785704T>GCA404882420COMPc.1637A>C (p.Gln546Pro)
c.1478A>C (p.Gln493Pro)
c.1538A>C (p.Gln513Pro)
19g.18785705G>ACA404882426COMPc.1636C>T (p.Gln546Ter)
c.1477C>T (p.Gln493Ter)
c.1537C>T (p.Gln513Ter)
 gnomAD v4
19g.18785705G>CCA404882425COMPc.1636C>G (p.Gln546Glu)
c.1477C>G (p.Gln493Glu)
c.1537C>G (p.Gln513Glu)
19g.18785705G>TCA404882424COMPc.1636C>A (p.Gln546Lys)
c.1477C>A (p.Gln493Lys)
c.1537C>A (p.Gln513Lys)
19g.18785706C>ACA506117308COMPc.1635G>T (p.Ala545=)
c.1476G>T (p.Ala492=)
c.1536G>T (p.Ala512=)
 gnomAD v4
19g.18785706C=CA2326525335COMPc.1635G= (p.Ala545=)
c.1476G= (p.Ala492=)
c.1536G= (p.Ala512=)
19g.18785706C>GCA506117310COMPc.1635G>C (p.Ala545=)
c.1476G>C (p.Ala492=)
c.1536G>C (p.Ala512=)
19g.18785706C>TCA506117313COMPc.1635G>A (p.Ala545=)
c.1476G>A (p.Ala492=)
c.1536G>A (p.Ala512=)
 dbSNP gnomAD v2 gnomAD v4
19g.18785707G>ACA9316340COMPc.1634C>T (p.Ala545Val)
c.1475C>T (p.Ala492Val)
c.1535C>T (p.Ala512Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18785707G>CCA404882430COMPc.1634C>G (p.Ala545Gly)
c.1475C>G (p.Ala492Gly)
c.1535C>G (p.Ala512Gly)
19g.18785707G=CA2326525336COMPc.1634C= (p.Ala545=)
c.1475C= (p.Ala492=)
c.1535C= (p.Ala512=)
19g.18785707G>TCA404882433COMPc.1634C>A (p.Ala545Glu)
c.1475C>A (p.Ala492Glu)
c.1535C>A (p.Ala512Glu)
19g.18785708C>ACA404882437COMPc.1633G>T (p.Ala545Ser)
c.1474G>T (p.Ala492Ser)
c.1534G>T (p.Ala512Ser)
 gnomAD v4
19g.18785708C=CA2326525337COMPc.1633G= (p.Ala545=)
c.1474G= (p.Ala492=)
c.1534G= (p.Ala512=)
19g.18785708C>GCA404882438COMPc.1633G>C (p.Ala545Pro)
c.1474G>C (p.Ala492Pro)
c.1534G>C (p.Ala512Pro)
19g.18785708C>TCA9316341COMPc.1633G>A (p.Ala545Thr)
c.1474G>A (p.Ala492Thr)
c.1534G>A (p.Ala512Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785709G>ACA9316342COMPc.1632C>T (p.Asp544=)
c.1473C>T (p.Asp491=)
c.1533C>T (p.Asp511=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785709G>CCA9316343COMPc.1632C>G (p.Asp544Glu)
c.1473C>G (p.Asp491Glu)
c.1533C>G (p.Asp511Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785709G=CA2326525338COMPc.1632C= (p.Asp544=)
c.1473C= (p.Asp491=)
c.1533C= (p.Asp511=)
19g.18785709G>TCA9316344COMPc.1632C>A (p.Asp544Glu)
c.1473C>A (p.Asp491Glu)
c.1533C>A (p.Asp511Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785710T>ACA404882454COMPc.1631A>T (p.Asp544Val)
c.1472A>T (p.Asp491Val)
c.1532A>T (p.Asp511Val)
19g.18785710T>CCA404882470COMPc.1631A>G (p.Asp544Gly)
c.1472A>G (p.Asp491Gly)
c.1532A>G (p.Asp511Gly)
19g.18785710T>GCA404882472COMPc.1631A>C (p.Asp544Ala)
c.1472A>C (p.Asp491Ala)
c.1532A>C (p.Asp511Ala)
19g.18785711C>ACA404882495COMPc.1630G>T (p.Asp544Tyr)
c.1471G>T (p.Asp491Tyr)
c.1531G>T (p.Asp511Tyr)
19g.18785711C>GCA404882502COMPc.1630G>C (p.Asp544His)
c.1471G>C (p.Asp491His)
c.1531G>C (p.Asp511His)
19g.18785711C>TCA404882508COMPc.1630G>A (p.Asp544Asn)
c.1471G>A (p.Asp491Asn)
c.1531G>A (p.Asp511Asn)
19g.18785712A>CCA506117330COMPc.1629T>G (p.Gly543=)
c.1470T>G (p.Gly490=)
c.1530T>G (p.Gly510=)
19g.18785712A>GCA506117327COMPc.1629T>C (p.Gly543=)
c.1470T>C (p.Gly490=)
c.1530T>C (p.Gly510=)
19g.18785712A>TCA506117325COMPc.1629T>A (p.Gly543=)
c.1470T>A (p.Gly490=)
c.1530T>A (p.Gly510=)
19g.18785713C>ACA404882512COMPc.1628G>T (p.Gly543Val)
c.1469G>T (p.Gly490Val)
c.1529G>T (p.Gly510Val)
 gnomAD v4
19g.18785713C>GCA404882515COMPc.1628G>C (p.Gly543Ala)
c.1469G>C (p.Gly490Ala)
c.1529G>C (p.Gly510Ala)
19g.18785713C>TCA404882513COMPc.1628G>A (p.Gly543Asp)
c.1469G>A (p.Gly490Asp)
c.1529G>A (p.Gly510Asp)
19g.18785714C>ACA404882518COMPc.1627G>T (p.Gly543Cys)
c.1468G>T (p.Gly490Cys)
c.1528G>T (p.Gly510Cys)
19g.18785714C>GCA404882520COMPc.1627G>C (p.Gly543Arg)
c.1468G>C (p.Gly490Arg)
c.1528G>C (p.Gly510Arg)
 gnomAD v4
19g.18785714C>TCA404882521COMPc.1627G>A (p.Gly543Ser)
c.1468G>A (p.Gly490Ser)
c.1528G>A (p.Gly510Ser)
19g.18785715C>ACA404882524COMPc.1626G>T (p.Glu542Asp)
c.1467G>T (p.Glu489Asp)
c.1527G>T (p.Glu509Asp)
19g.18785715C>GCA404882527COMPc.1626G>C (p.Glu542Asp)
c.1467G>C (p.Glu489Asp)
c.1527G>C (p.Glu509Asp)
19g.18785715C>TCA506117333COMPc.1626G>A (p.Glu542=)
c.1467G>A (p.Glu489=)
c.1527G>A (p.Glu509=)
 gnomAD v4
19g.18785716T>ACA404882532COMPc.1625A>T (p.Glu542Val)
c.1466A>T (p.Glu489Val)
c.1526A>T (p.Glu509Val)
19g.18785716T>CCA404882535COMPc.1625A>G (p.Glu542Gly)
c.1466A>G (p.Glu489Gly)
c.1526A>G (p.Glu509Gly)
19g.18785716T>GCA404882547COMPc.1625A>C (p.Glu542Ala)
c.1466A>C (p.Glu489Ala)
c.1526A>C (p.Glu509Ala)
 dbSNP
19g.18785716T=CA2326525339COMPc.1625A= (p.Glu542=)
c.1466A= (p.Glu489=)
c.1526A= (p.Glu509=)
19g.18785717C>ACA404882552COMPc.1624G>T (p.Glu542Ter)
c.1465G>T (p.Glu489Ter)
c.1525G>T (p.Glu509Ter)
19g.18785717C>GCA404882554COMPc.1624G>C (p.Glu542Gln)
c.1465G>C (p.Glu489Gln)
c.1525G>C (p.Glu509Gln)
19g.18785717C>TCA404882555COMPc.1624G>A (p.Glu542Lys)
c.1465G>A (p.Glu489Lys)
c.1525G>A (p.Glu509Lys)
19g.18785718C>ACA506117336COMPc.1623G>T (p.Pro541=)
c.1464G>T (p.Pro488=)
c.1524G>T (p.Pro508=)
19g.18785718C>GCA506117337COMPc.1623G>C (p.Pro541=)
c.1464G>C (p.Pro488=)
c.1524G>C (p.Pro508=)
 gnomAD v4
19g.18785718C>TCA506117338COMPc.1623G>A (p.Pro541=)
c.1464G>A (p.Pro488=)
c.1524G>A (p.Pro508=)
 gnomAD v4
19g.18785719G>ACA404882561COMPc.1622C>T (p.Pro541Leu)
c.1463C>T (p.Pro488Leu)
c.1523C>T (p.Pro508Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785719G>CCA404882566COMPc.1622C>G (p.Pro541Arg)
c.1463C>G (p.Pro488Arg)
c.1523C>G (p.Pro508Arg)
19g.18785719G=CA2326525340COMPc.1622C= (p.Pro541=)
c.1463C= (p.Pro488=)
c.1523C= (p.Pro508=)
19g.18785719G>TCA404882557COMPc.1622C>A (p.Pro541Gln)
c.1463C>A (p.Pro488Gln)
c.1523C>A (p.Pro508Gln)
 gnomAD v4
19g.18785720G>ACA404882570COMPc.1621C>T (p.Pro541Ser)
c.1462C>T (p.Pro488Ser)
c.1522C>T (p.Pro508Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.18785720G>CCA404882579COMPc.1621C>G (p.Pro541Ala)
c.1462C>G (p.Pro488Ala)
c.1522C>G (p.Pro508Ala)
 ClinVar dbSNP
19g.18785720G=CA2326525341COMPc.1621C= (p.Pro541=)
c.1462C= (p.Pro488=)
c.1522C= (p.Pro508=)
19g.18785720G>TCA404882577COMPc.1621C>A (p.Pro541Thr)
c.1462C>A (p.Pro488Thr)
c.1522C>A (p.Pro508Thr)
19g.18785721G>ACA506117343COMPc.1620C>T (p.Asp540=)
c.1461C>T (p.Asp487=)
c.1521C>T (p.Asp507=)
 dbSNP gnomAD v2
19g.18785721G>CCA404882581COMPc.1620C>G (p.Asp540Glu)
c.1461C>G (p.Asp487Glu)
c.1521C>G (p.Asp507Glu)
19g.18785721G=CA2326525342COMPc.1620C= (p.Asp540=)
c.1461C= (p.Asp487=)
c.1521C= (p.Asp507=)
19g.18785721G>TCA404882583COMPc.1620C>A (p.Asp540Glu)
c.1461C>A (p.Asp487Glu)
c.1521C>A (p.Asp507Glu)
19g.18785722T>ACA9316345COMPc.1619A>T (p.Asp540Val)
c.1460A>T (p.Asp487Val)
c.1520A>T (p.Asp507Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785722T>CCA404882593COMPc.1619A>G (p.Asp540Gly)
c.1460A>G (p.Asp487Gly)
c.1520A>G (p.Asp507Gly)
19g.18785722T>GCA404882628COMPc.1619A>C (p.Asp540Ala)
c.1460A>C (p.Asp487Ala)
c.1520A>C (p.Asp507Ala)
 dbSNP
19g.18785722T=CA2326525343COMPc.1619A= (p.Asp540=)
c.1460A= (p.Asp487=)
c.1520A= (p.Asp507=)
19g.18785723C>ACA9316346COMPc.1618G>T (p.Asp540Tyr)
c.1459G>T (p.Asp487Tyr)
c.1519G>T (p.Asp507Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785723C=CA2326525344COMPc.1618G= (p.Asp540=)
c.1459G= (p.Asp487=)
c.1519G= (p.Asp507=)
19g.18785723C>GCA404882649COMPc.1618G>C (p.Asp540His)
c.1459G>C (p.Asp487His)
c.1519G>C (p.Asp507His)
19g.18785723C>TCA404882652COMPc.1618G>A (p.Asp540Asn)
c.1459G>A (p.Asp487Asn)
c.1519G>A (p.Asp507Asn)
 gnomAD v4
19g.18785724C>ACA506117346COMPc.1617G>T (p.Leu539=)
c.1458G>T (p.Leu486=)
c.1518G>T (p.Leu506=)
19g.18785724C=CA2326525345COMPc.1617G= (p.Leu539=)
c.1458G= (p.Leu486=)
c.1518G= (p.Leu506=)
19g.18785724C>GCA506117347COMPc.1617G>C (p.Leu539=)
c.1458G>C (p.Leu486=)
c.1518G>C (p.Leu506=)
19g.18785724C>TCA9316347COMPc.1617G>A (p.Leu539=)
c.1458G>A (p.Leu486=)
c.1518G>A (p.Leu506=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
19g.18785725A>CCA404882665COMPc.1616T>G (p.Leu539Arg)
c.1457T>G (p.Leu486Arg)
c.1517T>G (p.Leu506Arg)
19g.18785725A>GCA404882667COMPc.1616T>C (p.Leu539Pro)
c.1457T>C (p.Leu486Pro)
c.1517T>C (p.Leu506Pro)
19g.18785725A>TCA404882671COMPc.1616T>A (p.Leu539Gln)
c.1457T>A (p.Leu486Gln)
c.1517T>A (p.Leu506Gln)
19g.18785726G>ACA506117353COMPc.1615C>T (p.Leu539=)
c.1456C>T (p.Leu486=)
c.1516C>T (p.Leu506=)
19g.18785726G>CCA404882674COMPc.1615C>G (p.Leu539Val)
c.1456C>G (p.Leu486Val)
c.1516C>G (p.Leu506Val)
19g.18785726G>TCA404882678COMPc.1615C>A (p.Leu539Met)
c.1456C>A (p.Leu486Met)
c.1516C>A (p.Leu506Met)
19g.18785727C>ACA506117354COMPc.1614G>T (p.Val538=)
c.1455G>T (p.Val485=)
c.1515G>T (p.Val505=)
19g.18785727C=CA2326525346COMPc.1614G= (p.Val538=)
c.1455G= (p.Val485=)
c.1515G= (p.Val505=)
19g.18785727C>GCA9316348COMPc.1614G>C (p.Val538=)
c.1455G>C (p.Val485=)
c.1515G>C (p.Val505=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785727C>TCA506117357COMPc.1614G>A (p.Val538=)
c.1455G>A (p.Val485=)
c.1515G>A (p.Val505=)
19g.18785728A>CCA404882684COMPc.1613T>G (p.Val538Gly)
c.1454T>G (p.Val485Gly)
c.1514T>G (p.Val505Gly)
19g.18785728A>GCA404882688COMPc.1613T>C (p.Val538Ala)
c.1454T>C (p.Val485Ala)
c.1514T>C (p.Val505Ala)
 gnomAD v4
19g.18785728A>TCA404882698COMPc.1613T>A (p.Val538Glu)
c.1454T>A (p.Val485Glu)
c.1514T>A (p.Val505Glu)
19g.18785729C>ACA404882702COMPc.1612G>T (p.Val538Leu)
c.1453G>T (p.Val485Leu)
c.1513G>T (p.Val505Leu)
 gnomAD v4
19g.18785729C>GCA404882706COMPc.1612G>C (p.Val538Leu)
c.1453G>C (p.Val485Leu)
c.1513G>C (p.Val505Leu)
 gnomAD v4
19g.18785729C>TCA404882709COMPc.1612G>A (p.Val538Met)
c.1453G>A (p.Val485Met)
c.1513G>A (p.Val505Met)
19g.18785730G>ACA506117362COMPc.1611C>T (p.Val537=)
c.1452C>T (p.Val484=)
c.1512C>T (p.Val504=)
 gnomAD v4
19g.18785730G>CCA506117364COMPc.1611C>G (p.Val537=)
c.1452C>G (p.Val484=)
c.1512C>G (p.Val504=)
19g.18785730G>TCA506117367COMPc.1611C>A (p.Val537=)
c.1452C>A (p.Val484=)
c.1512C>A (p.Val504=)
 gnomAD v4 COSMIC
19g.18785731A=CA2326525347COMPc.1610T= (p.Val537=)
c.1451T= (p.Val484=)
c.1511T= (p.Val504=)
19g.18785731A>CCA404882714COMPc.1610T>G (p.Val537Gly)
c.1451T>G (p.Val484Gly)
c.1511T>G (p.Val504Gly)
19g.18785731A>GCA404882722COMPc.1610T>C (p.Val537Ala)
c.1451T>C (p.Val484Ala)
c.1511T>C (p.Val504Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785731A>TCA404882726COMPc.1610T>A (p.Val537Asp)
c.1451T>A (p.Val484Asp)
c.1511T>A (p.Val504Asp)
19g.18785732C>ACA404882733COMPc.1609G>T (p.Val537Phe)
c.1450G>T (p.Val484Phe)
c.1510G>T (p.Val504Phe)
19g.18785732C=CA2326525348COMPc.1609G= (p.Val537=)
c.1450G= (p.Val484=)
c.1510G= (p.Val504=)
19g.18785732C>GCA404882748COMPc.1609G>C (p.Val537Leu)
c.1450G>C (p.Val484Leu)
c.1510G>C (p.Val504Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.18785732C>TCA404882730COMPc.1609G>A (p.Val537Ile)
c.1450G>A (p.Val484Ile)
c.1510G>A (p.Val504Ile)
 gnomAD v4
19g.18785733T>ACA506117371COMPc.1608A>T (p.Thr536=)
c.1449A>T (p.Thr483=)
c.1509A>T (p.Thr503=)
19g.18785733T>CCA506117373COMPc.1608A>G (p.Thr536=)
c.1449A>G (p.Thr483=)
c.1509A>G (p.Thr503=)
 gnomAD v4
19g.18785733T>GCA506117372COMPc.1608A>C (p.Thr536=)
c.1449A>C (p.Thr483=)
c.1509A>C (p.Thr503=)
 dbSNP gnomAD v2 gnomAD v4
19g.18785733T=CA2326525349COMPc.1608A= (p.Thr536=)
c.1449A= (p.Thr483=)
c.1509A= (p.Thr503=)
19g.18785734G>ACA9316349COMPc.1607C>T (p.Thr536Ile)
c.1448C>T (p.Thr483Ile)
c.1508C>T (p.Thr503Ile)
 dbSNP ExAC gnomAD v2
19g.18785734G>CCA404882756COMPc.1607C>G (p.Thr536Arg)
c.1448C>G (p.Thr483Arg)
c.1508C>G (p.Thr503Arg)
19g.18785734G=CA2326525350COMPc.1607C= (p.Thr536=)
c.1448C= (p.Thr483=)
c.1508C= (p.Thr503=)
19g.18785734G>TCA404882762COMPc.1607C>A (p.Thr536Lys)
c.1448C>A (p.Thr483Lys)
c.1508C>A (p.Thr503Lys)
19g.18785735T>ACA404882765COMPc.1606A>T (p.Thr536Ser)
c.1447A>T (p.Thr483Ser)
c.1507A>T (p.Thr503Ser)
19g.18785735T>CCA404882769COMPc.1606A>G (p.Thr536Ala)
c.1447A>G (p.Thr483Ala)
c.1507A>G (p.Thr503Ala)
19g.18785735T>GCA404882771COMPc.1606A>C (p.Thr536Pro)
c.1447A>C (p.Thr483Pro)
c.1507A>C (p.Thr503Pro)
19g.18785736C>ACA404882772COMPc.1605G>T (p.Gln535His)
c.1446G>T (p.Gln482His)
c.1506G>T (p.Gln502His)
19g.18785736C=CA2326525351COMPc.1605G= (p.Gln535=)
c.1446G= (p.Gln482=)
c.1506G= (p.Gln502=)
19g.18785736C>GCA404882773COMPc.1605G>C (p.Gln535His)
c.1446G>C (p.Gln482His)
c.1506G>C (p.Gln502His)
 dbSNP
19g.18785736C>TCA506117377COMPc.1605G>A (p.Gln535=)
c.1446G>A (p.Gln482=)
c.1506G>A (p.Gln502=)
19g.18785737T>ACA404882778COMPc.1604A>T (p.Gln535Leu)
c.1445A>T (p.Gln482Leu)
c.1505A>T (p.Gln502Leu)
19g.18785737T>CCA306254611COMPc.1604A>G (p.Gln535Arg)
c.1445A>G (p.Gln482Arg)
c.1505A>G (p.Gln502Arg)
 dbSNP
19g.18785737T>GCA404882817COMPc.1604A>C (p.Gln535Pro)
c.1445A>C (p.Gln482Pro)
c.1505A>C (p.Gln502Pro)
19g.18785737T=CA2326525352COMPc.1604A= (p.Gln535=)
c.1445A= (p.Gln482=)
c.1505A= (p.Gln502=)
19g.18785738G>ACA404882846COMPc.1603C>T (p.Gln535Ter)
c.1444C>T (p.Gln482Ter)
c.1504C>T (p.Gln502Ter)
19g.18785738G>CCA404882851COMPc.1603C>G (p.Gln535Glu)
c.1444C>G (p.Gln482Glu)
c.1504C>G (p.Gln502Glu)
19g.18785738G>TCA404882839COMPc.1603C>A (p.Gln535Lys)
c.1444C>A (p.Gln482Lys)
c.1504C>A (p.Gln502Lys)
19g.18785739G>ACA506117379COMPc.1602C>T (p.Phe534=)
c.1443C>T (p.Phe481=)
c.1503C>T (p.Phe501=)
 gnomAD v4
19g.18785739G>CCA404882856COMPc.1602C>G (p.Phe534Leu)
c.1443C>G (p.Phe481Leu)
c.1503C>G (p.Phe501Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.18785739G=CA2326525353COMPc.1602C= (p.Phe534=)
c.1443C= (p.Phe481=)
c.1503C= (p.Phe501=)
19g.18785739G>TCA404882873COMPc.1602C>A (p.Phe534Leu)
c.1443C>A (p.Phe481Leu)
c.1503C>A (p.Phe501Leu)
19g.18785740A>CCA404882880COMPc.1601T>G (p.Phe534Cys)
c.1442T>G (p.Phe481Cys)
c.1502T>G (p.Phe501Cys)
19g.18785740A>GCA404882888COMPc.1601T>C (p.Phe534Ser)
c.1442T>C (p.Phe481Ser)
c.1502T>C (p.Phe501Ser)
19g.18785740A>TCA404882897COMPc.1601T>A (p.Phe534Tyr)
c.1442T>A (p.Phe481Tyr)
c.1502T>A (p.Phe501Tyr)
19g.18785741A=CA2326525354COMPc.1600T= (p.Phe534=)
c.1441T= (p.Phe481=)
c.1501T= (p.Phe501=)
19g.18785741A>CCA404882924COMPc.1600T>G (p.Phe534Val)
c.1441T>G (p.Phe481Val)
c.1501T>G (p.Phe501Val)
19g.18785741A>GCA404882902COMPc.1600T>C (p.Phe534Leu)
c.1441T>C (p.Phe481Leu)
c.1501T>C (p.Phe501Leu)
19g.18785741A>TCA306254613COMPc.1600T>A (p.Phe534Ile)
c.1441T>A (p.Phe481Ile)
c.1501T>A (p.Phe501Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785742G>ACA506117386COMPc.1599C>T (p.Ala533=)
c.1440C>T (p.Ala480=)
c.1500C>T (p.Ala500=)
 gnomAD v4
19g.18785742G>CCA506117387COMPc.1599C>G (p.Ala533=)
c.1440C>G (p.Ala480=)
c.1500C>G (p.Ala500=)
19g.18785742G>TCA506117388COMPc.1599C>A (p.Ala533=)
c.1440C>A (p.Ala480=)
c.1500C>A (p.Ala500=)
19g.18785743G>ACA404882939COMPc.1598C>T (p.Ala533Val)
c.1439C>T (p.Ala480Val)
c.1499C>T (p.Ala500Val)
19g.18785743G>CCA404882942COMPc.1598C>G (p.Ala533Gly)
c.1439C>G (p.Ala480Gly)
c.1499C>G (p.Ala500Gly)
19g.18785743G>TCA404882944COMPc.1598C>A (p.Ala533Asp)
c.1439C>A (p.Ala480Asp)
c.1499C>A (p.Ala500Asp)
 gnomAD v4
19g.18785744C>ACA404882947COMPc.1597G>T (p.Ala533Ser)
c.1438G>T (p.Ala480Ser)
c.1498G>T (p.Ala500Ser)
19g.18785744C=CA2326525355COMPc.1597G= (p.Ala533=)
c.1438G= (p.Ala480=)
c.1498G= (p.Ala500=)
19g.18785744C>GCA404882957COMPc.1597G>C (p.Ala533Pro)
c.1438G>C (p.Ala480Pro)
c.1498G>C (p.Ala500Pro)
19g.18785744C>TCA9316350COMPc.1597G>A (p.Ala533Thr)
c.1438G>A (p.Ala480Thr)
c.1498G>A (p.Ala500Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785745C>ACA404882970COMPc.1596G>T (p.Arg532Ser)
c.1437G>T (p.Arg479Ser)
c.1497G>T (p.Arg499Ser)
19g.18785745C>GCA404882966COMPc.1596G>C (p.Arg532Ser)
c.1437G>C (p.Arg479Ser)
c.1497G>C (p.Arg499Ser)
19g.18785745C>TCA506117393COMPc.1596G>A (p.Arg532=)
c.1437G>A (p.Arg479=)
c.1497G>A (p.Arg499=)
19g.18785746C>ACA404882974COMPc.1595G>T (p.Arg532Met)
c.1436G>T (p.Arg479Met)
c.1496G>T (p.Arg499Met)
19g.18785746C>GCA404882981COMPc.1595G>C (p.Arg532Thr)
c.1436G>C (p.Arg479Thr)
c.1496G>C (p.Arg499Thr)
19g.18785746C>TCA404882979COMPc.1595G>A (p.Arg532Lys)
c.1436G>A (p.Arg479Lys)
c.1496G>A (p.Arg499Lys)
19g.18785747T>ACA404882982COMPc.1594A>T (p.Arg532Trp)
c.1435A>T (p.Arg479Trp)
c.1495A>T (p.Arg499Trp)
19g.18785747T>CCA404882983COMPc.1594A>G (p.Arg532Gly)
c.1435A>G (p.Arg479Gly)
c.1495A>G (p.Arg499Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.18785747T>GCA506117398COMPc.1594A>C (p.Arg532=)
c.1435A>C (p.Arg479=)
c.1495A>C (p.Arg499=)
 dbSNP
19g.18785747T=CA2326525356COMPc.1594A= (p.Arg532=)
c.1435A= (p.Arg479=)
c.1495A= (p.Arg499=)
19g.18785748G>ACA506117399COMPc.1593C>T (p.Phe531=)
c.1434C>T (p.Phe478=)
c.1494C>T (p.Phe498=)
 COSMIC
19g.18785748G>CCA404882987COMPc.1593C>G (p.Phe531Leu)
c.1434C>G (p.Phe478Leu)
c.1494C>G (p.Phe498Leu)
 ClinVar
19g.18785748G>TCA404882991COMPc.1593C>A (p.Phe531Leu)
c.1434C>A (p.Phe478Leu)
c.1494C>A (p.Phe498Leu)
19g.18785749A>CCA404882994COMPc.1592T>G (p.Phe531Cys)
c.1433T>G (p.Phe478Cys)
c.1493T>G (p.Phe498Cys)
19g.18785749A>GCA404882998COMPc.1592T>C (p.Phe531Ser)
c.1433T>C (p.Phe478Ser)
c.1493T>C (p.Phe498Ser)
19g.18785749A>TCA404883002COMPc.1592T>A (p.Phe531Tyr)
c.1433T>A (p.Phe478Tyr)
c.1493T>A (p.Phe498Tyr)
19g.18785750A>CCA404883015COMPc.1591T>G (p.Phe531Val)
c.1432T>G (p.Phe478Val)
c.1492T>G (p.Phe498Val)
19g.18785750A>GCA404883006COMPc.1591T>C (p.Phe531Leu)
c.1432T>C (p.Phe478Leu)
c.1492T>C (p.Phe498Leu)
19g.18785750A>TCA404883010COMPc.1591T>A (p.Phe531Ile)
c.1432T>A (p.Phe478Ile)
c.1492T>A (p.Phe498Ile)
19g.18785751G>ACA506117409COMPc.1590C>T (p.Asp530=)
c.1431C>T (p.Asp477=)
c.1491C>T (p.Asp497=)
 ClinVar
19g.18785751G>CCA404883017COMPc.1590C>G (p.Asp530Glu)
c.1431C>G (p.Asp477Glu)
c.1491C>G (p.Asp497Glu)
19g.18785751G=CA2326525357COMPc.1590C= (p.Asp530=)
c.1431C= (p.Asp477=)
c.1491C= (p.Asp497=)
19g.18785751G>TCA9316351COMPc.1590C>A (p.Asp530Glu)
c.1431C>A (p.Asp477Glu)
c.1491C>A (p.Asp497Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785752T>ACA404883026COMPc.1589A>T (p.Asp530Val)
c.1430A>T (p.Asp477Val)
c.1490A>T (p.Asp497Val)
19g.18785752T>CCA9316352COMPc.1589A>G (p.Asp530Gly)
c.1430A>G (p.Asp477Gly)
c.1490A>G (p.Asp497Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785752T>GCA404883031COMPc.1589A>C (p.Asp530Ala)
c.1430A>C (p.Asp477Ala)
c.1490A>C (p.Asp497Ala)
19g.18785752T=CA2326525358COMPc.1589A= (p.Asp530=)
c.1430A= (p.Asp477=)
c.1490A= (p.Asp497=)
19g.18785753delCA2842543152COMPc.1588del (p.Asp530ThrfsTer?)
c.1429del (p.Asp477ThrfsTer?)
c.1489del (p.Asp497ThrfsTer?)
19g.18785753C>ACA404883034COMPc.1588G>T (p.Asp530Tyr)
c.1429G>T (p.Asp477Tyr)
c.1489G>T (p.Asp497Tyr)
19g.18785753C=CA2326525359COMPc.1588G= (p.Asp530=)
c.1429G= (p.Asp477=)
c.1489G= (p.Asp497=)
19g.18785753C>GCA404883036COMPc.1588G>C (p.Asp530His)
c.1429G>C (p.Asp477His)
c.1489G>C (p.Asp497His)
19g.18785753C>TCA9316353COMPc.1588G>A (p.Asp530Asn)
c.1429G>A (p.Asp477Asn)
c.1489G>A (p.Asp497Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.18785754G>ACA306254642COMPc.1587C>T (p.Thr529=)
c.1428C>T (p.Thr476=)
c.1488C>T (p.Thr496=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785754G>CCA506117414COMPc.1587C>G (p.Thr529=)
c.1428C>G (p.Thr476=)
c.1488C>G (p.Thr496=)
19g.18785754G=CA2326525360COMPc.1587C= (p.Thr529=)
c.1428C= (p.Thr476=)
c.1488C= (p.Thr496=)
19g.18785754G>TCA506117415COMPc.1587C>A (p.Thr529=)
c.1428C>A (p.Thr476=)
c.1488C>A (p.Thr496=)
 dbSNP gnomAD v2 gnomAD v4
19g.18785755dupCA2842543153COMPc.1587dup (p.Asp530ArgfsTer15)
c.1428dup (p.Asp477ArgfsTer15)
c.1488dup (p.Asp497ArgfsTer15)
19g.18785755G>ACA343855COMPc.1586C>T (p.Thr529Ile)
c.1427C>T (p.Thr476Ile)
c.1487C>T (p.Thr496Ile)
 ClinVar dbSNP
19g.18785755G>CCA404883039COMPc.1586C>G (p.Thr529Ser)
c.1427C>G (p.Thr476Ser)
c.1487C>G (p.Thr496Ser)
19g.18785755G=CA2326525361COMPc.1586C= (p.Thr529=)
c.1427C= (p.Thr476=)
c.1487C= (p.Thr496=)
19g.18785755G>TCA404883043COMPc.1586C>A (p.Thr529Asn)
c.1427C>A (p.Thr476Asn)
c.1487C>A (p.Thr496Asn)
 ClinVar
19g.18785759_18785764delCA2573156199COMPc.1581_1586del (p.Leu528_Thr529del)
c.1422_1427del (p.Leu475_Thr476del)
c.1482_1487del (p.Leu495_Thr496del)
 ClinVar dbSNP

Number of alleles fetched