Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.18543055A>CCA408364016SEC23Bc.1548A>C (p.Glu516Asp)
c.1494A>C (p.Glu498Asp)
c.72A>C (p.Glu24Asp)
20g.18543055A>GCA509829216SEC23Bc.1548A>G (p.Glu516=)
c.1494A>G (p.Glu498=)
c.72A>G (p.Glu24=)
20g.18543055A>TCA408364017SEC23Bc.1548A>T (p.Glu516Asp)
c.1494A>T (p.Glu498Asp)
c.72A>T (p.Glu24Asp)
20g.18543056G>ACA408364018SEC23Bc.1549G>A (p.Ala517Thr)
c.1495G>A (p.Ala499Thr)
c.73G>A (p.Ala25Thr)
20g.18543056G>CCA408364019SEC23Bc.1549G>C (p.Ala517Pro)
c.1495G>C (p.Ala499Pro)
c.73G>C (p.Ala25Pro)
20g.18543056G>TCA408364020SEC23Bc.1549G>T (p.Ala517Ser)
c.1495G>T (p.Ala499Ser)
c.73G>T (p.Ala25Ser)
 gnomAD v4
20g.18543057C>ACA408364021SEC23Bc.1550C>A (p.Ala517Glu)
c.1496C>A (p.Ala499Glu)
c.74C>A (p.Ala25Glu)
20g.18543057C>GCA408364022SEC23Bc.1550C>G (p.Ala517Gly)
c.1496C>G (p.Ala499Gly)
c.74C>G (p.Ala25Gly)
20g.18543057C>TCA408364023SEC23Bc.1550C>T (p.Ala517Val)
c.1496C>T (p.Ala499Val)
c.74C>T (p.Ala25Val)
20g.18543058A=CA2353564527SEC23Bc.1551A= (p.Ala517=)
c.1497A= (p.Ala499=)
c.75A= (p.Ala25=)
20g.18543058A>CCA509829220SEC23Bc.1551A>C (p.Ala517=)
c.1497A>C (p.Ala499=)
c.75A>C (p.Ala25=)
20g.18543058A>GCA509829222SEC23Bc.1551A>G (p.Ala517=)
c.1497A>G (p.Ala499=)
c.75A>G (p.Ala25=)
20g.18543058A>TCA509829221SEC23Bc.1551A>T (p.Ala517=)
c.1497A>T (p.Ala499=)
c.75A>T (p.Ala25=)
 dbSNP gnomAD v3 gnomAD v4
20g.18543059G>ACA312406938SEC23Bc.1552G>A (p.Ala518Thr)
c.1498G>A (p.Ala500Thr)
c.76G>A (p.Ala26Thr)
 dbSNP gnomAD v2 gnomAD v4
20g.18543059G>CCA408364025SEC23Bc.1552G>C (p.Ala518Pro)
c.1498G>C (p.Ala500Pro)
c.76G>C (p.Ala26Pro)
20g.18543059G=CA2353564528SEC23Bc.1552G= (p.Ala518=)
c.1498G= (p.Ala500=)
c.76G= (p.Ala26=)
20g.18543059G>TCA408364024SEC23Bc.1552G>T (p.Ala518Ser)
c.1498G>T (p.Ala500Ser)
c.76G>T (p.Ala26Ser)
20g.18543060C>ACA408364026SEC23Bc.1553C>A (p.Ala518Glu)
c.1499C>A (p.Ala500Glu)
c.77C>A (p.Ala26Glu)
20g.18543060C=CA2353564529SEC23Bc.1553C= (p.Ala518=)
c.1499C= (p.Ala500=)
c.77C= (p.Ala26=)
20g.18543060C>GCA408364027SEC23Bc.1553C>G (p.Ala518Gly)
c.1499C>G (p.Ala500Gly)
c.77C>G (p.Ala26Gly)
 dbSNP gnomAD v2 gnomAD v4
20g.18543060C>TCA408364028SEC23Bc.1553C>T (p.Ala518Val)
c.1499C>T (p.Ala500Val)
c.77C>T (p.Ala26Val)
20g.18543061A=CA2353564530SEC23Bc.1554A= (p.Ala518=)
c.1500A= (p.Ala500=)
c.78A= (p.Ala26=)
20g.18543061A>CCA509829226SEC23Bc.1554A>C (p.Ala518=)
c.1500A>C (p.Ala500=)
c.78A>C (p.Ala26=)
20g.18543061A>GCA9778409SEC23Bc.1554A>G (p.Ala518=)
c.1500A>G (p.Ala500=)
c.78A>G (p.Ala26=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543061A>TCA509829229SEC23Bc.1554A>T (p.Ala518=)
c.1500A>T (p.Ala500=)
c.78A>T (p.Ala26=)
20g.18543062T>ACA408364029SEC23Bc.1555T>A (p.Phe519Ile)
c.1501T>A (p.Phe501Ile)
c.79T>A (p.Phe27Ile)
20g.18543062T>CCA408364030SEC23Bc.1555T>C (p.Phe519Leu)
c.1501T>C (p.Phe501Leu)
c.79T>C (p.Phe27Leu)
 ClinVar gnomAD v4
20g.18543062T>GCA408364031SEC23Bc.1555T>G (p.Phe519Val)
c.1501T>G (p.Phe501Val)
c.79T>G (p.Phe27Val)
20g.18543063T>ACA408364032SEC23Bc.1556T>A (p.Phe519Tyr)
c.1502T>A (p.Phe501Tyr)
c.80T>A (p.Phe27Tyr)
20g.18543063T>CCA408364033SEC23Bc.1556T>C (p.Phe519Ser)
c.1502T>C (p.Phe501Ser)
c.80T>C (p.Phe27Ser)
20g.18543063T>GCA408364034SEC23Bc.1556T>G (p.Phe519Cys)
c.1502T>G (p.Phe501Cys)
c.80T>G (p.Phe27Cys)
 dbSNP gnomAD v3 gnomAD v4
20g.18543063T=CA2353564531SEC23Bc.1556T= (p.Phe519=)
c.1502T= (p.Phe501=)
c.80T= (p.Phe27=)
20g.18543064T>ACA408364035SEC23Bc.1557T>A (p.Phe519Leu)
c.1503T>A (p.Phe501Leu)
c.81T>A (p.Phe27Leu)
20g.18543064T>CCA509829235SEC23Bc.1557T>C (p.Phe519=)
c.1503T>C (p.Phe501=)
c.81T>C (p.Phe27=)
20g.18543064T>GCA408364036SEC23Bc.1557T>G (p.Phe519Leu)
c.1503T>G (p.Phe501Leu)
c.81T>G (p.Phe27Leu)
20g.18543065G>ACA408364038SEC23Bc.1558G>A (p.Asp520Asn)
c.1504G>A (p.Asp502Asn)
c.82G>A (p.Asp28Asn)
20g.18543065G>CCA408364039SEC23Bc.1558G>C (p.Asp520His)
c.1504G>C (p.Asp502His)
c.82G>C (p.Asp28His)
20g.18543065G>TCA408364037SEC23Bc.1558G>T (p.Asp520Tyr)
c.1504G>T (p.Asp502Tyr)
c.82G>T (p.Asp28Tyr)
20g.18543066A>CCA408364040SEC23Bc.1559A>C (p.Asp520Ala)
c.1505A>C (p.Asp502Ala)
c.83A>C (p.Asp28Ala)
20g.18543066A>GCA408364041SEC23Bc.1559A>G (p.Asp520Gly)
c.1505A>G (p.Asp502Gly)
c.83A>G (p.Asp28Gly)
20g.18543066A>TCA408364042SEC23Bc.1559A>T (p.Asp520Val)
c.1505A>T (p.Asp502Val)
c.83A>T (p.Asp28Val)
20g.18543067C>ACA408364043SEC23Bc.1560C>A (p.Asp520Glu)
c.1506C>A (p.Asp502Glu)
c.84C>A (p.Asp28Glu)
20g.18543067C>GCA408364044SEC23Bc.1560C>G (p.Asp520Glu)
c.1506C>G (p.Asp502Glu)
c.84C>G (p.Asp28Glu)
20g.18543067C>TCA509829242SEC23Bc.1560C>T (p.Asp520=)
c.1506C>T (p.Asp502=)
c.84C>T (p.Asp28=)
20g.18543068C>ACA408364045SEC23Bc.1561C>A (p.Gln521Lys)
c.1507C>A (p.Gln503Lys)
c.85C>A (p.Gln29Lys)
20g.18543068C=CA2353564532SEC23Bc.1561C= (p.Gln521=)
c.1507C= (p.Gln503=)
c.85C= (p.Gln29=)
20g.18543068C>GCA408364046SEC23Bc.1561C>G (p.Gln521Glu)
c.1507C>G (p.Gln503Glu)
c.85C>G (p.Gln29Glu)
20g.18543068C>TCA408364047SEC23Bc.1561C>T (p.Gln521Ter)
c.1507C>T (p.Gln503Ter)
c.85C>T (p.Gln29Ter)
 ClinVar dbSNP gnomAD v4
20g.18543069A>CCA408364048SEC23Bc.1562A>C (p.Gln521Pro)
c.1508A>C (p.Gln503Pro)
c.86A>C (p.Gln29Pro)
20g.18543069A>GCA408364049SEC23Bc.1562A>G (p.Gln521Arg)
c.1508A>G (p.Gln503Arg)
c.86A>G (p.Gln29Arg)
20g.18543069A>TCA408364050SEC23Bc.1562A>T (p.Gln521Leu)
c.1508A>T (p.Gln503Leu)
c.86A>T (p.Gln29Leu)
20g.18543070G>ACA509829248SEC23Bc.1563G>A (p.Gln521=)
c.1509G>A (p.Gln503=)
c.87G>A (p.Gln29=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.18543070G>CCA408364051SEC23Bc.1563G>C (p.Gln521His)
c.1509G>C (p.Gln503His)
c.87G>C (p.Gln29His)
 COSMIC
20g.18543070G=CA2353564533SEC23Bc.1563G= (p.Gln521=)
c.1509G= (p.Gln503=)
c.87G= (p.Gln29=)
20g.18543070G>TCA408364052SEC23Bc.1563G>T (p.Gln521His)
c.1509G>T (p.Gln503His)
c.87G>T (p.Gln29His)
 gnomAD v4
20g.18543071G>ACA408364055SEC23Bc.1564G>A (p.Glu522Lys)
c.1510G>A (p.Glu504Lys)
c.88G>A (p.Glu30Lys)
 gnomAD v4
20g.18543071G>CCA408364054SEC23Bc.1564G>C (p.Glu522Gln)
c.1510G>C (p.Glu504Gln)
c.88G>C (p.Glu30Gln)
20g.18543071G>TCA408364053SEC23Bc.1564G>T (p.Glu522Ter)
c.1510G>T (p.Glu504Ter)
c.88G>T (p.Glu30Ter)
 COSMIC
20g.18543072A>CCA408364056SEC23Bc.1565A>C (p.Glu522Ala)
c.1511A>C (p.Glu504Ala)
c.89A>C (p.Glu30Ala)
20g.18543072A>GCA408364057SEC23Bc.1565A>G (p.Glu522Gly)
c.1511A>G (p.Glu504Gly)
c.89A>G (p.Glu30Gly)
20g.18543072A>TCA408364058SEC23Bc.1565A>T (p.Glu522Val)
c.1511A>T (p.Glu504Val)
c.89A>T (p.Glu30Val)
20g.18543073G>ACA9778410SEC23Bc.1566G>A (p.Glu522=)
c.1512G>A (p.Glu504=)
c.90G>A (p.Glu30=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543073G>CCA408364059SEC23Bc.1566G>C (p.Glu522Asp)
c.1512G>C (p.Glu504Asp)
c.90G>C (p.Glu30Asp)
20g.18543073G=CA2353564534SEC23Bc.1566G= (p.Glu522=)
c.1512G= (p.Glu504=)
c.90G= (p.Glu30=)
20g.18543073G>TCA408364060SEC23Bc.1566G>T (p.Glu522Asp)
c.1512G>T (p.Glu504Asp)
c.90G>T (p.Glu30Asp)
20g.18543074dupCA2652043868SEC23Bc.1567dup (p.Ala523GlyfsTer?)
c.1513dup (p.Ala505GlyfsTer?)
c.91dup (p.Ala31GlyfsTer?)
 gnomAD v4
20g.18543074G>ACA408364061SEC23Bc.1567G>A (p.Ala523Thr)
c.1513G>A (p.Ala505Thr)
c.91G>A (p.Ala31Thr)
20g.18543074G>CCA408364062SEC23Bc.1567G>C (p.Ala523Pro)
c.1513G>C (p.Ala505Pro)
c.91G>C (p.Ala31Pro)
20g.18543074G>TCA408364063SEC23Bc.1567G>T (p.Ala523Ser)
c.1513G>T (p.Ala505Ser)
c.91G>T (p.Ala31Ser)
20g.18543075C>ACA408364064SEC23Bc.1568C>A (p.Ala523Asp)
c.1514C>A (p.Ala505Asp)
c.92C>A (p.Ala31Asp)
20g.18543075C>GCA408364065SEC23Bc.1568C>G (p.Ala523Gly)
c.1514C>G (p.Ala505Gly)
c.92C>G (p.Ala31Gly)
20g.18543075C>TCA408364066SEC23Bc.1568C>T (p.Ala523Val)
c.1514C>T (p.Ala505Val)
c.92C>T (p.Ala31Val)
20g.18543076T>ACA509829259SEC23Bc.1569T>A (p.Ala523=)
c.1515T>A (p.Ala505=)
c.93T>A (p.Ala31=)
20g.18543076T>CCA312406941SEC23Bc.1569T>C (p.Ala523=)
c.1515T>C (p.Ala505=)
c.93T>C (p.Ala31=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.18543076T>GCA509829260SEC23Bc.1569T>G (p.Ala523=)
c.1515T>G (p.Ala505=)
c.93T>G (p.Ala31=)
 gnomAD v4
20g.18543076T=CA2353564535SEC23Bc.1569T= (p.Ala523=)
c.1515T= (p.Ala505=)
c.93T= (p.Ala31=)
20g.18543077G>ACA408364069SEC23Bc.1570G>A (p.Ala524Thr)
c.1516G>A (p.Ala506Thr)
c.94G>A (p.Ala32Thr)
 gnomAD v4
20g.18543077G>CCA408364068SEC23Bc.1570G>C (p.Ala524Pro)
c.1516G>C (p.Ala506Pro)
c.94G>C (p.Ala32Pro)
20g.18543077G>TCA408364067SEC23Bc.1570G>T (p.Ala524Ser)
c.1516G>T (p.Ala506Ser)
c.94G>T (p.Ala32Ser)
20g.18543078C>ACA408364070SEC23Bc.1571C>A (p.Ala524Glu)
c.1517C>A (p.Ala506Glu)
c.95C>A (p.Ala32Glu)
20g.18543078C=CA2353564536SEC23Bc.1571C= (p.Ala524=)
c.1517C= (p.Ala506=)
c.95C= (p.Ala32=)
20g.18543078C>GCA408364071SEC23Bc.1571C>G (p.Ala524Gly)
c.1517C>G (p.Ala506Gly)
c.95C>G (p.Ala32Gly)
20g.18543078C>TCA222937SEC23Bc.1571C>T (p.Ala524Val)
c.1517C>T (p.Ala506Val)
c.95C>T (p.Ala32Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543079G>ACA509829266SEC23Bc.1572G>A (p.Ala524=)
c.1518G>A (p.Ala506=)
c.96G>A (p.Ala32=)
 dbSNP gnomAD v2 gnomAD v4
20g.18543079G>CCA509829267SEC23Bc.1572G>C (p.Ala524=)
c.1518G>C (p.Ala506=)
c.96G>C (p.Ala32=)
20g.18543079G=CA2353564537SEC23Bc.1572G= (p.Ala524=)
c.1518G= (p.Ala506=)
c.96G= (p.Ala32=)
20g.18543079G>TCA509829268SEC23Bc.1572G>T (p.Ala524=)
c.1518G>T (p.Ala506=)
c.96G>T (p.Ala32=)
20g.18543080G>ACA408364072SEC23Bc.1573G>A (p.Ala525Thr)
c.1519G>A (p.Ala507Thr)
c.97G>A (p.Ala33Thr)
20g.18543080G>CCA408364073SEC23Bc.1573G>C (p.Ala525Pro)
c.1519G>C (p.Ala507Pro)
c.97G>C (p.Ala33Pro)
20g.18543080G>TCA408364074SEC23Bc.1573G>T (p.Ala525Ser)
c.1519G>T (p.Ala507Ser)
c.97G>T (p.Ala33Ser)
20g.18543081C>ACA408364075SEC23Bc.1574C>A (p.Ala525Glu)
c.1520C>A (p.Ala507Glu)
c.98C>A (p.Ala33Glu)
20g.18543081C=CA2353564538SEC23Bc.1574C= (p.Ala525=)
c.1520C= (p.Ala507=)
c.98C= (p.Ala33=)
20g.18543081C>GCA408364076SEC23Bc.1574C>G (p.Ala525Gly)
c.1520C>G (p.Ala507Gly)
c.98C>G (p.Ala33Gly)
20g.18543081C>TCA9778411SEC23Bc.1574C>T (p.Ala525Val)
c.1520C>T (p.Ala507Val)
c.98C>T (p.Ala33Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543082A>CCA509829278SEC23Bc.1575A>C (p.Ala525=)
c.1521A>C (p.Ala507=)
c.99A>C (p.Ala33=)
20g.18543082A>GCA509829280SEC23Bc.1575A>G (p.Ala525=)
c.1521A>G (p.Ala507=)
c.99A>G (p.Ala33=)
20g.18543082A>TCA509829282SEC23Bc.1575A>T (p.Ala525=)
c.1521A>T (p.Ala507=)
c.99A>T (p.Ala33=)
20g.18543083G>ACA408364077SEC23Bc.1576G>A (p.Val526Met)
c.1522G>A (p.Val508Met)
c.100G>A (p.Val34Met)
20g.18543083G>CCA408364078SEC23Bc.1576G>C (p.Val526Leu)
c.1522G>C (p.Val508Leu)
c.100G>C (p.Val34Leu)
20g.18543083G>TCA408364079SEC23Bc.1576G>T (p.Val526Leu)
c.1522G>T (p.Val508Leu)
c.100G>T (p.Val34Leu)
20g.18543084T>ACA408364080SEC23Bc.1577T>A (p.Val526Glu)
c.1523T>A (p.Val508Glu)
c.101T>A (p.Val34Glu)
20g.18543084T>CCA408364081SEC23Bc.1577T>C (p.Val526Ala)
c.1523T>C (p.Val508Ala)
c.101T>C (p.Val34Ala)
20g.18543084T>GCA408364082SEC23Bc.1577T>G (p.Val526Gly)
c.1523T>G (p.Val508Gly)
c.101T>G (p.Val34Gly)
20g.18543085G>ACA9778412SEC23Bc.1578G>A (p.Val526=)
c.1524G>A (p.Val508=)
c.102G>A (p.Val34=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543085G>CCA509829288SEC23Bc.1578G>C (p.Val526=)
c.1524G>C (p.Val508=)
c.102G>C (p.Val34=)
 dbSNP
20g.18543085G=CA2353564539SEC23Bc.1578G= (p.Val526=)
c.1524G= (p.Val508=)
c.102G= (p.Val34=)
20g.18543085G>TCA509829290SEC23Bc.1578G>T (p.Val526=)
c.1524G>T (p.Val508=)
c.102G>T (p.Val34=)
20g.18543085_18543086delinsGTCA2353564540SEC23Bc.1578_1579delinsGT (p.Val526=)
c.1524_1525delinsGT (p.Val508=)
c.102_103delinsGT (p.Val34=)
20g.18543086T>ACA408364083SEC23Bc.1579T>A (p.Leu527Met)
c.1525T>A (p.Leu509Met)
c.103T>A (p.Leu35Met)
20g.18543086T>CCA509829292SEC23Bc.1579T>C (p.Leu527=)
c.1525T>C (p.Leu509=)
c.103T>C (p.Leu35=)
20g.18543086T>GCA408364084SEC23Bc.1579T>G (p.Leu527Val)
c.1525T>G (p.Leu509Val)
c.103T>G (p.Leu35Val)
20g.18543087delCA2353564541SEC23Bc.1580del (p.Leu527Ter)
c.1526del (p.Leu509Ter)
c.104del (p.Leu35Ter)
 dbSNP
20g.18543087T>ACA408364085SEC23Bc.1580T>A (p.Leu527Ter)
c.1526T>A (p.Leu509Ter)
c.104T>A (p.Leu35Ter)
20g.18543087T>CCA408364086SEC23Bc.1580T>C (p.Leu527Ser)
c.1526T>C (p.Leu509Ser)
c.104T>C (p.Leu35Ser)
 ClinVar dbSNP gnomAD v4
20g.18543087T>GCA408364087SEC23Bc.1580T>G (p.Leu527Trp)
c.1526T>G (p.Leu509Trp)
c.104T>G (p.Leu35Trp)
20g.18543087T=CA2353564542SEC23Bc.1580T= (p.Leu527=)
c.1526T= (p.Leu509=)
c.104T= (p.Leu35=)
20g.18543088G>ACA509829297SEC23Bc.1581G>A (p.Leu527=)
c.1527G>A (p.Leu509=)
c.105G>A (p.Leu35=)
20g.18543088G>CCA408364088SEC23Bc.1581G>C (p.Leu527Phe)
c.1527G>C (p.Leu509Phe)
c.105G>C (p.Leu35Phe)
 dbSNP
20g.18543088G=CA2353564543SEC23Bc.1581G= (p.Leu527=)
c.1527G= (p.Leu509=)
c.105G= (p.Leu35=)
20g.18543088G>TCA9778413SEC23Bc.1581G>T (p.Leu527Phe)
c.1527G>T (p.Leu509Phe)
c.105G>T (p.Leu35Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543089A=CA2353564544SEC23Bc.1582A= (p.Met528=)
c.1528A= (p.Met510=)
c.106A= (p.Met36=)
20g.18543089A>CCA408364089SEC23Bc.1582A>C (p.Met528Leu)
c.1528A>C (p.Met510Leu)
c.106A>C (p.Met36Leu)
 dbSNP
20g.18543089A>GCA408364090SEC23Bc.1582A>G (p.Met528Val)
c.1528A>G (p.Met510Val)
c.106A>G (p.Met36Val)
20g.18543089A>TCA408364091SEC23Bc.1582A>T (p.Met528Leu)
c.1528A>T (p.Met510Leu)
c.106A>T (p.Met36Leu)
20g.18543090T>ACA408364092SEC23Bc.1583T>A (p.Met528Lys)
c.1529T>A (p.Met510Lys)
c.107T>A (p.Met36Lys)
20g.18543090T>CCA408364093SEC23Bc.1583T>C (p.Met528Thr)
c.1529T>C (p.Met510Thr)
c.107T>C (p.Met36Thr)
20g.18543090T>GCA408364094SEC23Bc.1583T>G (p.Met528Arg)
c.1529T>G (p.Met510Arg)
c.107T>G (p.Met36Arg)
20g.18543091G>ACA408364097SEC23Bc.1584G>A (p.Met528Ile)
c.1530G>A (p.Met510Ile)
c.108G>A (p.Met36Ile)
 gnomAD v4
20g.18543091G>CCA408364096SEC23Bc.1584G>C (p.Met528Ile)
c.1530G>C (p.Met510Ile)
c.108G>C (p.Met36Ile)
20g.18543091G>TCA408364095SEC23Bc.1584G>T (p.Met528Ile)
c.1530G>T (p.Met510Ile)
c.108G>T (p.Met36Ile)
20g.18543092G>ACA408364098SEC23Bc.1585G>A (p.Ala529Thr)
c.1531G>A (p.Ala511Thr)
c.109G>A (p.Ala37Thr)
20g.18543092G>CCA408364099SEC23Bc.1585G>C (p.Ala529Pro)
c.1531G>C (p.Ala511Pro)
c.109G>C (p.Ala37Pro)
20g.18543092G>TCA408364100SEC23Bc.1585G>T (p.Ala529Ser)
c.1531G>T (p.Ala511Ser)
c.109G>T (p.Ala37Ser)
20g.18543093C>ACA408364101SEC23Bc.1586C>A (p.Ala529Glu)
c.1532C>A (p.Ala511Glu)
c.110C>A (p.Ala37Glu)
20g.18543093C>GCA408364102SEC23Bc.1586C>G (p.Ala529Gly)
c.1532C>G (p.Ala511Gly)
c.110C>G (p.Ala37Gly)
20g.18543093C>TCA408364103SEC23Bc.1586C>T (p.Ala529Val)
c.1532C>T (p.Ala511Val)
c.110C>T (p.Ala37Val)
 gnomAD v4
20g.18543094A>CCA509829307SEC23Bc.1587A>C (p.Ala529=)
c.1533A>C (p.Ala511=)
c.111A>C (p.Ala37=)
20g.18543094A>GCA509829308SEC23Bc.1587A>G (p.Ala529=)
c.1533A>G (p.Ala511=)
c.111A>G (p.Ala37=)
 gnomAD v4
20g.18543094A>TCA509829309SEC23Bc.1587A>T (p.Ala529=)
c.1533A>T (p.Ala511=)
c.111A>T (p.Ala37=)
20g.18543095C>ACA509829310SEC23Bc.1588C>A (p.Arg530=)
c.1534C>A (p.Arg512=)
c.112C>A (p.Arg38=)
20g.18543095C=CA2353564545SEC23Bc.1588C= (p.Arg530=)
c.1534C= (p.Arg512=)
c.112C= (p.Arg38=)
20g.18543095C>GCA408364104SEC23Bc.1588C>G (p.Arg530Gly)
c.1534C>G (p.Arg512Gly)
c.112C>G (p.Arg38Gly)
20g.18543095C>TCA114849SEC23Bc.1588C>T (p.Arg530Trp)
c.1534C>T (p.Arg512Trp)
c.112C>T (p.Arg38Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.18543096G>ACA9778414SEC23Bc.1589G>A (p.Arg530Gln)
c.1535G>A (p.Arg512Gln)
c.113G>A (p.Arg38Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543096G>CCA408364105SEC23Bc.1589G>C (p.Arg530Pro)
c.1535G>C (p.Arg512Pro)
c.113G>C (p.Arg38Pro)
 gnomAD v4
20g.18543096G=CA2353564546SEC23Bc.1589G= (p.Arg530=)
c.1535G= (p.Arg512=)
c.113G= (p.Arg38=)
20g.18543096G>TCA408364106SEC23Bc.1589G>T (p.Arg530Leu)
c.1535G>T (p.Arg512Leu)
c.113G>T (p.Arg38Leu)
20g.18543097G>ACA509829318SEC23Bc.1590G>A (p.Arg530=)
c.1536G>A (p.Arg512=)
c.114G>A (p.Arg38=)
20g.18543097G>CCA312406962SEC23Bc.1590G>C (p.Arg530=)
c.1536G>C (p.Arg512=)
c.114G>C (p.Arg38=)
 dbSNP gnomAD v4
20g.18543097G=CA2353564547SEC23Bc.1590G= (p.Arg530=)
c.1536G= (p.Arg512=)
c.114G= (p.Arg38=)
20g.18543097G>TCA509829319SEC23Bc.1590G>T (p.Arg530=)
c.1536G>T (p.Arg512=)
c.114G>T (p.Arg38=)
20g.18543098C>ACA408364107SEC23Bc.1591C>A (p.Leu531Ile)
c.1537C>A (p.Leu513Ile)
c.115C>A (p.Leu39Ile)
20g.18543098C>GCA408364108SEC23Bc.1591C>G (p.Leu531Val)
c.1537C>G (p.Leu513Val)
c.115C>G (p.Leu39Val)
20g.18543098C>TCA408364109SEC23Bc.1591C>T (p.Leu531Phe)
c.1537C>T (p.Leu513Phe)
c.115C>T (p.Leu39Phe)
20g.18543099T>ACA408364110SEC23Bc.1592T>A (p.Leu531His)
c.1538T>A (p.Leu513His)
c.116T>A (p.Leu39His)
20g.18543099T>CCA408364112SEC23Bc.1592T>C (p.Leu531Pro)
c.1538T>C (p.Leu513Pro)
c.116T>C (p.Leu39Pro)
20g.18543099T>GCA408364111SEC23Bc.1592T>G (p.Leu531Arg)
c.1538T>G (p.Leu513Arg)
c.116T>G (p.Leu39Arg)
20g.18543100T>ACA509829323SEC23Bc.1593T>A (p.Leu531=)
c.1539T>A (p.Leu513=)
c.117T>A (p.Leu39=)
20g.18543100T>CCA509829326SEC23Bc.1593T>C (p.Leu531=)
c.1539T>C (p.Leu513=)
c.117T>C (p.Leu39=)
20g.18543100T>GCA509829325SEC23Bc.1593T>G (p.Leu531=)
c.1539T>G (p.Leu513=)
c.117T>G (p.Leu39=)
20g.18543101G>ACA408364113SEC23Bc.1594G>A (p.Gly532Arg)
c.1540G>A (p.Gly514Arg)
c.118G>A (p.Gly40Arg)
20g.18543101G>CCA408364114SEC23Bc.1594G>C (p.Gly532Arg)
c.1540G>C (p.Gly514Arg)
c.118G>C (p.Gly40Arg)
20g.18543101G>TCA408364115SEC23Bc.1594G>T (p.Gly532Trp)
c.1540G>T (p.Gly514Trp)
c.118G>T (p.Gly40Trp)
20g.18543102G>ACA408364116SEC23Bc.1595G>A (p.Gly532Glu)
c.1541G>A (p.Gly514Glu)
c.119G>A (p.Gly40Glu)
20g.18543102G>CCA9778415SEC23Bc.1595G>C (p.Gly532Ala)
c.1541G>C (p.Gly514Ala)
c.119G>C (p.Gly40Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543102G=CA2353564548SEC23Bc.1595G= (p.Gly532=)
c.1541G= (p.Gly514=)
c.119G= (p.Gly40=)
20g.18543102G>TCA408364117SEC23Bc.1595G>T (p.Gly532Val)
c.1541G>T (p.Gly514Val)
c.119G>T (p.Gly40Val)
20g.18543103G>ACA509829328SEC23Bc.1596G>A (p.Gly532=)
c.1542G>A (p.Gly514=)
c.120G>A (p.Gly40=)
20g.18543103G>CCA9778416SEC23Bc.1596G>C (p.Gly532=)
c.1542G>C (p.Gly514=)
c.120G>C (p.Gly40=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543103G=CA2353564549SEC23Bc.1596G= (p.Gly532=)
c.1542G= (p.Gly514=)
c.120G= (p.Gly40=)
20g.18543103G>TCA509829329SEC23Bc.1596G>T (p.Gly532=)
c.1542G>T (p.Gly514=)
c.120G>T (p.Gly40=)
20g.18543104G>ACA408364118SEC23Bc.1597G>A (p.Val533Met)
c.1543G>A (p.Val515Met)
c.121G>A (p.Val41Met)
20g.18543104G>CCA408364119SEC23Bc.1597G>C (p.Val533Leu)
c.1543G>C (p.Val515Leu)
c.121G>C (p.Val41Leu)
20g.18543104G>TCA408364120SEC23Bc.1597G>T (p.Val533Leu)
c.1543G>T (p.Val515Leu)
c.121G>T (p.Val41Leu)
20g.18543105T>ACA408364123SEC23Bc.1598T>A (p.Val533Glu)
c.1544T>A (p.Val515Glu)
c.122T>A (p.Val41Glu)
20g.18543105T>CCA408364122SEC23Bc.1598T>C (p.Val533Ala)
c.1544T>C (p.Val515Ala)
c.122T>C (p.Val41Ala)
20g.18543105T>GCA408364121SEC23Bc.1598T>G (p.Val533Gly)
c.1544T>G (p.Val515Gly)
c.122T>G (p.Val41Gly)
 dbSNP gnomAD v2
20g.18543105T=CA2353564550SEC23Bc.1598T= (p.Val533=)
c.1544T= (p.Val515=)
c.122T= (p.Val41=)
20g.18543106G>ACA509829332SEC23Bc.1599G>A (p.Val533=)
c.1545G>A (p.Val515=)
c.123G>A (p.Val41=)
 gnomAD v4
20g.18543106G>CCA509829333SEC23Bc.1599G>C (p.Val533=)
c.1545G>C (p.Val515=)
c.123G>C (p.Val41=)
20g.18543106G>TCA509829334SEC23Bc.1599G>T (p.Val533=)
c.1545G>T (p.Val515=)
c.123G>T (p.Val41=)
 gnomAD v4 COSMIC
20g.18543107T>ACA408364124SEC23Bc.1600T>A (p.Phe534Ile)
c.1546T>A (p.Phe516Ile)
c.124T>A (p.Phe42Ile)
20g.18543107T>CCA408364125SEC23Bc.1600T>C (p.Phe534Leu)
c.1546T>C (p.Phe516Leu)
c.124T>C (p.Phe42Leu)
 COSMIC
20g.18543107T>GCA408364126SEC23Bc.1600T>G (p.Phe534Val)
c.1546T>G (p.Phe516Val)
c.124T>G (p.Phe42Val)
20g.18543108T>ACA408364127SEC23Bc.1601T>A (p.Phe534Tyr)
c.1547T>A (p.Phe516Tyr)
c.125T>A (p.Phe42Tyr)
20g.18543108T>CCA408364128SEC23Bc.1601T>C (p.Phe534Ser)
c.1547T>C (p.Phe516Ser)
c.125T>C (p.Phe42Ser)
20g.18543108T>GCA408364129SEC23Bc.1601T>G (p.Phe534Cys)
c.1547T>G (p.Phe516Cys)
c.125T>G (p.Phe42Cys)
20g.18543109C>ACA408364130SEC23Bc.1602C>A (p.Phe534Leu)
c.1548C>A (p.Phe516Leu)
c.126C>A (p.Phe42Leu)
20g.18543109C=CA2353564551SEC23Bc.1602C= (p.Phe534=)
c.1548C= (p.Phe516=)
c.126C= (p.Phe42=)
20g.18543109C>GCA312406964SEC23Bc.1602C>G (p.Phe534Leu)
c.1548C>G (p.Phe516Leu)
c.126C>G (p.Phe42Leu)
 ClinVar dbSNP gnomAD v4
20g.18543109C>TCA509829336SEC23Bc.1602C>T (p.Phe534=)
c.1548C>T (p.Phe516=)
c.126C>T (p.Phe42=)
 dbSNP
20g.18543110delCA2695229331SEC23Bc.1603del (p.Arg535GlufsTer?)
c.1549del (p.Arg517GlufsTer?)
c.127del (p.Arg43GlufsTer?)
20g.18543110C>ACA509829337SEC23Bc.1603C>A (p.Arg535=)
c.1549C>A (p.Arg517=)
c.127C>A (p.Arg43=)
20g.18543110C=CA2353564552SEC23Bc.1603C= (p.Arg535=)
c.1549C= (p.Arg517=)
c.127C= (p.Arg43=)
20g.18543110C>GCA408364131SEC23Bc.1603C>G (p.Arg535Gly)
c.1549C>G (p.Arg517Gly)
c.127C>G (p.Arg43Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.18543110C>TCA9778417SEC23Bc.1603C>T (p.Arg535Ter)
c.1549C>T (p.Arg517Ter)
c.127C>T (p.Arg43Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543111G>ACA9778419SEC23Bc.1604G>A (p.Arg535Gln)
c.1550G>A (p.Arg517Gln)
c.128G>A (p.Arg43Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543111G>CCA408364132SEC23Bc.1604G>C (p.Arg535Pro)
c.1550G>C (p.Arg517Pro)
c.128G>C (p.Arg43Pro)
20g.18543111G=CA2353564553SEC23Bc.1604G= (p.Arg535=)
c.1550G= (p.Arg517=)
c.128G= (p.Arg43=)
20g.18543111G>TCA9778418SEC23Bc.1604G>T (p.Arg535Leu)
c.1550G>T (p.Arg517Leu)
c.128G>T (p.Arg43Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543112A>CCA509829340SEC23Bc.1605A>C (p.Arg535=)
c.1551A>C (p.Arg517=)
c.129A>C (p.Arg43=)
20g.18543112A>GCA509829341SEC23Bc.1605A>G (p.Arg535=)
c.1551A>G (p.Arg517=)
c.129A>G (p.Arg43=)
 gnomAD v4
20g.18543112A>TCA509829342SEC23Bc.1605A>T (p.Arg535=)
c.1551A>T (p.Arg517=)
c.129A>T (p.Arg43=)
20g.18543113G>ACA408364133SEC23Bc.1606G>A (p.Ala536Thr)
c.1552G>A (p.Ala518Thr)
c.130G>A (p.Ala44Thr)
 gnomAD v4
20g.18543113G>CCA408364134SEC23Bc.1606G>C (p.Ala536Pro)
c.1552G>C (p.Ala518Pro)
c.130G>C (p.Ala44Pro)
20g.18543113G>TCA408364135SEC23Bc.1606G>T (p.Ala536Ser)
c.1552G>T (p.Ala518Ser)
c.130G>T (p.Ala44Ser)
20g.18543114C>ACA9778420SEC23Bc.1607C>A (p.Ala536Glu)
c.1553C>A (p.Ala518Glu)
c.131C>A (p.Ala44Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543114C=CA2353564554SEC23Bc.1607C= (p.Ala536=)
c.1553C= (p.Ala518=)
c.131C= (p.Ala44=)
20g.18543114C>GCA9778422SEC23Bc.1607C>G (p.Ala536Gly)
c.1553C>G (p.Ala518Gly)
c.131C>G (p.Ala44Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543114C>TCA9778421SEC23Bc.1607C>T (p.Ala536Val)
c.1553C>T (p.Ala518Val)
c.131C>T (p.Ala44Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.18543115G>ACA9778423SEC23Bc.1608G>A (p.Ala536=)
c.1554G>A (p.Ala518=)
c.132G>A (p.Ala44=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543115G>CCA509829345SEC23Bc.1608G>C (p.Ala536=)
c.1554G>C (p.Ala518=)
c.132G>C (p.Ala44=)
20g.18543115G=CA2353564555SEC23Bc.1608G= (p.Ala536=)
c.1554G= (p.Ala518=)
c.132G= (p.Ala44=)
20g.18543115G>TCA509829346SEC23Bc.1608G>T (p.Ala536=)
c.1554G>T (p.Ala518=)
c.132G>T (p.Ala44=)
 gnomAD v4
20g.18543116G>ACA408364136SEC23Bc.1609G>A (p.Glu537Lys)
c.1555G>A (p.Glu519Lys)
c.133G>A (p.Glu45Lys)
20g.18543116G>CCA408364137SEC23Bc.1609G>C (p.Glu537Gln)
c.1555G>C (p.Glu519Gln)
c.133G>C (p.Glu45Gln)
20g.18543116G>TCA408364138SEC23Bc.1609G>T (p.Glu537Ter)
c.1555G>T (p.Glu519Ter)
c.133G>T (p.Glu45Ter)
20g.18543117A>CCA408364139SEC23Bc.1610A>C (p.Glu537Ala)
c.1556A>C (p.Glu519Ala)
c.134A>C (p.Glu45Ala)
20g.18543117A>GCA408364140SEC23Bc.1610A>G (p.Glu537Gly)
c.1556A>G (p.Glu519Gly)
c.134A>G (p.Glu45Gly)
20g.18543117A>TCA408364141SEC23Bc.1610A>T (p.Glu537Val)
c.1556A>T (p.Glu519Val)
c.134A>T (p.Glu45Val)
20g.18543118G>ACA509829349SEC23Bc.1611G>A (p.Glu537=)
c.1557G>A (p.Glu519=)
c.135G>A (p.Glu45=)
 ClinVar
20g.18543118G>CCA408364142SEC23Bc.1611G>C (p.Glu537Asp)
c.1557G>C (p.Glu519Asp)
c.135G>C (p.Glu45Asp)
20g.18543118G>TCA408364143SEC23Bc.1611G>T (p.Glu537Asp)
c.1557G>T (p.Glu519Asp)
c.135G>T (p.Glu45Asp)
20g.18543119T>ACA408364144SEC23Bc.1612T>A (p.Ser538Thr)
c.1558T>A (p.Ser520Thr)
c.136T>A (p.Ser46Thr)
20g.18543119T>CCA408364145SEC23Bc.1612T>C (p.Ser538Pro)
c.1558T>C (p.Ser520Pro)
c.136T>C (p.Ser46Pro)
20g.18543119T>GCA408364146SEC23Bc.1612T>G (p.Ser538Ala)
c.1558T>G (p.Ser520Ala)
c.136T>G (p.Ser46Ala)
 dbSNP
20g.18543119T=CA2353564556SEC23Bc.1612T= (p.Ser538=)
c.1558T= (p.Ser520=)
c.136T= (p.Ser46=)
20g.18543120C>ACA408364148SEC23Bc.1613C>A (p.Ser538Ter)
c.1559C>A (p.Ser520Ter)
c.137C>A (p.Ser46Ter)
20g.18543120C=CA2353564557SEC23Bc.1613C= (p.Ser538=)
c.1559C= (p.Ser520=)
c.137C= (p.Ser46=)
20g.18543120C>GCA408364147SEC23Bc.1613C>G (p.Ser538Ter)
c.1559C>G (p.Ser520Ter)
c.137C>G (p.Ser46Ter)
20g.18543120C>TCA9778424SEC23Bc.1613C>T (p.Ser538Leu)
c.1559C>T (p.Ser520Leu)
c.137C>T (p.Ser46Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543121A>CCA509829353SEC23Bc.1614A>C (p.Ser538=)
c.1560A>C (p.Ser520=)
c.138A>C (p.Ser46=)
20g.18543121A>GCA509829354SEC23Bc.1614A>G (p.Ser538=)
c.1560A>G (p.Ser520=)
c.138A>G (p.Ser46=)
20g.18543121A>TCA509829355SEC23Bc.1614A>T (p.Ser538=)
c.1560A>T (p.Ser520=)
c.138A>T (p.Ser46=)
20g.18543123_18543124delCA2577347663SEC23Bc.1616_1617del (p.Glu539GlyfsTer24)
c.1562_1563del (p.Glu521GlyfsTer24)
c.140_141del (p.Glu47GlyfsTer24)
20g.18543122G>ACA408364149SEC23Bc.1615G>A (p.Glu539Lys)
c.1561G>A (p.Glu521Lys)
c.139G>A (p.Glu47Lys)
20g.18543122G>CCA408364150SEC23Bc.1615G>C (p.Glu539Gln)
c.1561G>C (p.Glu521Gln)
c.139G>C (p.Glu47Gln)
20g.18543122G>TCA408364151SEC23Bc.1615G>T (p.Glu539Ter)
c.1561G>T (p.Glu521Ter)
c.139G>T (p.Glu47Ter)
20g.18543123A>CCA408364152SEC23Bc.1616A>C (p.Glu539Ala)
c.1562A>C (p.Glu521Ala)
c.140A>C (p.Glu47Ala)
20g.18543123A>GCA408364153SEC23Bc.1616A>G (p.Glu539Gly)
c.1562A>G (p.Glu521Gly)
c.140A>G (p.Glu47Gly)
20g.18543123A>TCA408364154SEC23Bc.1616A>T (p.Glu539Val)
c.1562A>T (p.Glu521Val)
c.140A>T (p.Glu47Val)
20g.18543124G>ACA509829359SEC23Bc.1617G>A (p.Glu539=)
c.1563G>A (p.Glu521=)
c.141G>A (p.Glu47=)
20g.18543124G>CCA408364155SEC23Bc.1617G>C (p.Glu539Asp)
c.1563G>C (p.Glu521Asp)
c.141G>C (p.Glu47Asp)
20g.18543124G>TCA408364156SEC23Bc.1617G>T (p.Glu539Asp)
c.1563G>T (p.Glu521Asp)
c.141G>T (p.Glu47Asp)
20g.18543125G>ACA312407001SEC23Bc.1618G>A (p.Glu540Lys)
c.1564G>A (p.Glu522Lys)
c.142G>A (p.Glu48Lys)
 dbSNP gnomAD v3 gnomAD v4
20g.18543125G>CCA408364157SEC23Bc.1618G>C (p.Glu540Gln)
c.1564G>C (p.Glu522Gln)
c.142G>C (p.Glu48Gln)
20g.18543125G=CA2353564558SEC23Bc.1618G= (p.Glu540=)
c.1564G= (p.Glu522=)
c.142G= (p.Glu48=)
20g.18543125G>TCA9778425SEC23Bc.1618G>T (p.Glu540Ter)
c.1564G>T (p.Glu522Ter)
c.142G>T (p.Glu48Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543126A>CCA408364158SEC23Bc.1619A>C (p.Glu540Ala)
c.1565A>C (p.Glu522Ala)
c.143A>C (p.Glu48Ala)
20g.18543126A>GCA408364159SEC23Bc.1619A>G (p.Glu540Gly)
c.1565A>G (p.Glu522Gly)
c.143A>G (p.Glu48Gly)
20g.18543126A>TCA408364160SEC23Bc.1619A>T (p.Glu540Val)
c.1565A>T (p.Glu522Val)
c.143A>T (p.Glu48Val)
20g.18543127G>ACA509829363SEC23Bc.1620G>A (p.Glu540=)
c.1566G>A (p.Glu522=)
c.144G>A (p.Glu48=)
 dbSNP gnomAD v3 gnomAD v4
20g.18543127G>CCA408364162SEC23Bc.1620G>C (p.Glu540Asp)
c.1566G>C (p.Glu522Asp)
c.144G>C (p.Glu48Asp)
20g.18543127G=CA2353564559SEC23Bc.1620G= (p.Glu540=)
c.1566G= (p.Glu522=)
c.144G= (p.Glu48=)
20g.18543127G>TCA408364161SEC23Bc.1620G>T (p.Glu540Asp)
c.1566G>T (p.Glu522Asp)
c.144G>T (p.Glu48Asp)
 gnomAD v4
20g.18543130dupCA2577347664SEC23Bc.1623dup (p.Pro542AlafsTer22)
c.1569dup (p.Pro524AlafsTer22)
c.147dup (p.Pro50AlafsTer22)
20g.18543128G>ACA408364163SEC23Bc.1621G>A (p.Gly541Arg)
c.1567G>A (p.Gly523Arg)
c.145G>A (p.Gly49Arg)
20g.18543128G>CCA408364164SEC23Bc.1621G>C (p.Gly541Arg)
c.1567G>C (p.Gly523Arg)
c.145G>C (p.Gly49Arg)
20g.18543128G>TCA408364165SEC23Bc.1621G>T (p.Gly541Trp)
c.1567G>T (p.Gly523Trp)
c.145G>T (p.Gly49Trp)
20g.18543129G>ACA408364166SEC23Bc.1622G>A (p.Gly541Glu)
c.1568G>A (p.Gly523Glu)
c.146G>A (p.Gly49Glu)
20g.18543129G>CCA408364167SEC23Bc.1622G>C (p.Gly541Ala)
c.1568G>C (p.Gly523Ala)
c.146G>C (p.Gly49Ala)
20g.18543129G>TCA408364168SEC23Bc.1622G>T (p.Gly541Val)
c.1568G>T (p.Gly523Val)
c.146G>T (p.Gly49Val)
 COSMIC
20g.18543130G>ACA509829367SEC23Bc.1623G>A (p.Gly541=)
c.1569G>A (p.Gly523=)
c.147G>A (p.Gly49=)
 gnomAD v4
20g.18543130G>CCA509829366SEC23Bc.1623G>C (p.Gly541=)
c.1569G>C (p.Gly523=)
c.147G>C (p.Gly49=)
20g.18543130G>TCA509829365SEC23Bc.1623G>T (p.Gly541=)
c.1569G>T (p.Gly523=)
c.147G>T (p.Gly49=)
 gnomAD v4
20g.18543131C>ACA408364169SEC23Bc.1624C>A (p.Pro542Thr)
c.1570C>A (p.Pro524Thr)
c.148C>A (p.Pro50Thr)
20g.18543131C>GCA408364170SEC23Bc.1624C>G (p.Pro542Ala)
c.1570C>G (p.Pro524Ala)
c.148C>G (p.Pro50Ala)
20g.18543131C>TCA408364171SEC23Bc.1624C>T (p.Pro542Ser)
c.1570C>T (p.Pro524Ser)
c.148C>T (p.Pro50Ser)
20g.18543133delCA645614622SEC23Bc.1626del (p.Asp543MetfsTer?)
c.1572del (p.Asp525MetfsTer?)
c.150del (p.Asp51MetfsTer?)
 COSMIC
20g.18543132C>ACA408364172SEC23Bc.1625C>A (p.Pro542His)
c.1571C>A (p.Pro524His)
c.149C>A (p.Pro50His)
20g.18543132C=CA2353564560SEC23Bc.1625C= (p.Pro542=)
c.1571C= (p.Pro524=)
c.149C= (p.Pro50=)
20g.18543132C>GCA408364173SEC23Bc.1625C>G (p.Pro542Arg)
c.1571C>G (p.Pro524Arg)
c.149C>G (p.Pro50Arg)
20g.18543132C>TCA408364174SEC23Bc.1625C>T (p.Pro542Leu)
c.1571C>T (p.Pro524Leu)
c.149C>T (p.Pro50Leu)
 dbSNP gnomAD v3 gnomAD v4
20g.18543133C>ACA509829372SEC23Bc.1626C>A (p.Pro542=)
c.1572C>A (p.Pro524=)
c.150C>A (p.Pro50=)
20g.18543133C=CA2353564561SEC23Bc.1626C= (p.Pro542=)
c.1572C= (p.Pro524=)
c.150C= (p.Pro50=)
20g.18543133C>GCA9778426SEC23Bc.1626C>G (p.Pro542=)
c.1572C>G (p.Pro524=)
c.150C>G (p.Pro50=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543133C>TCA509829369SEC23Bc.1626C>T (p.Pro542=)
c.1572C>T (p.Pro524=)
c.150C>T (p.Pro50=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.18543134G>ACA9778427SEC23Bc.1627G>A (p.Asp543Asn)
c.1573G>A (p.Asp525Asn)
c.151G>A (p.Asp51Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543134G>CCA408364175SEC23Bc.1627G>C (p.Asp543His)
c.1573G>C (p.Asp525His)
c.151G>C (p.Asp51His)
 gnomAD v4
20g.18543134G=CA2353564562SEC23Bc.1627G= (p.Asp543=)
c.1573G= (p.Asp525=)
c.151G= (p.Asp51=)
20g.18543134G>TCA408364176SEC23Bc.1627G>T (p.Asp543Tyr)
c.1573G>T (p.Asp525Tyr)
c.151G>T (p.Asp51Tyr)
 gnomAD v4
20g.18543135A>CCA408364177SEC23Bc.1628A>C (p.Asp543Ala)
c.1574A>C (p.Asp525Ala)
c.152A>C (p.Asp51Ala)
20g.18543135A>GCA408364178SEC23Bc.1628A>G (p.Asp543Gly)
c.1574A>G (p.Asp525Gly)
c.152A>G (p.Asp51Gly)
20g.18543135A>TCA408364179SEC23Bc.1628A>T (p.Asp543Val)
c.1574A>T (p.Asp525Val)
c.152A>T (p.Asp51Val)
20g.18543136T>ACA408364180SEC23Bc.1629T>A (p.Asp543Glu)
c.1575T>A (p.Asp525Glu)
c.153T>A (p.Asp51Glu)
20g.18543136T>CCA509829376SEC23Bc.1629T>C (p.Asp543=)
c.1575T>C (p.Asp525=)
c.153T>C (p.Asp51=)
 gnomAD v4
20g.18543136T>GCA408364181SEC23Bc.1629T>G (p.Asp543Glu)
c.1575T>G (p.Asp525Glu)
c.153T>G (p.Asp51Glu)
20g.18543137G>ACA408364182SEC23Bc.1630G>A (p.Val544Met)
c.1576G>A (p.Val526Met)
c.154G>A (p.Val52Met)
20g.18543137G>CCA408364183SEC23Bc.1630G>C (p.Val544Leu)
c.1576G>C (p.Val526Leu)
c.154G>C (p.Val52Leu)
20g.18543137G>TCA408364184SEC23Bc.1630G>T (p.Val544Leu)
c.1576G>T (p.Val526Leu)
c.154G>T (p.Val52Leu)
20g.18543138T>ACA408364185SEC23Bc.1631T>A (p.Val544Glu)
c.1577T>A (p.Val526Glu)
c.155T>A (p.Val52Glu)
20g.18543138T>CCA408364187SEC23Bc.1631T>C (p.Val544Ala)
c.1577T>C (p.Val526Ala)
c.155T>C (p.Val52Ala)
20g.18543138T>GCA408364186SEC23Bc.1631T>G (p.Val544Gly)
c.1577T>G (p.Val526Gly)
c.155T>G (p.Val52Gly)
20g.18543139G>ACA509829485SEC23Bc.1632G>A (p.Val544=)
c.1578G>A (p.Val526=)
c.156G>A (p.Val52=)
20g.18543139G>CCA9778428SEC23Bc.1632G>C (p.Val544=)
c.1578G>C (p.Val526=)
c.156G>C (p.Val52=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543139G=CA2353564563SEC23Bc.1632G= (p.Val544=)
c.1578G= (p.Val526=)
c.156G= (p.Val52=)
20g.18543139G>TCA509829489SEC23Bc.1632G>T (p.Val544=)
c.1578G>T (p.Val526=)
c.156G>T (p.Val52=)
20g.18543140C>ACA408364188SEC23Bc.1633C>A (p.Leu545Ile)
c.1579C>A (p.Leu527Ile)
c.157C>A (p.Leu53Ile)
20g.18543140C>GCA408364189SEC23Bc.1633C>G (p.Leu545Val)
c.1579C>G (p.Leu527Val)
c.157C>G (p.Leu53Val)
20g.18543140C>TCA408364190SEC23Bc.1633C>T (p.Leu545Phe)
c.1579C>T (p.Leu527Phe)
c.157C>T (p.Leu53Phe)
20g.18543141T>ACA408364193SEC23Bc.1634T>A (p.Leu545His)
c.1580T>A (p.Leu527His)
c.158T>A (p.Leu53His)
20g.18543141T>CCA408364191SEC23Bc.1634T>C (p.Leu545Pro)
c.1580T>C (p.Leu527Pro)
c.158T>C (p.Leu53Pro)
20g.18543141T>GCA408364192SEC23Bc.1634T>G (p.Leu545Arg)
c.1580T>G (p.Leu527Arg)
c.158T>G (p.Leu53Arg)
20g.18543142C>ACA509829510SEC23Bc.1635C>A (p.Leu545=)
c.1581C>A (p.Leu527=)
c.159C>A (p.Leu53=)
20g.18543142C>GCA509829512SEC23Bc.1635C>G (p.Leu545=)
c.1581C>G (p.Leu527=)
c.159C>G (p.Leu53=)
 gnomAD v4
20g.18543142C>TCA509829514SEC23Bc.1635C>T (p.Leu545=)
c.1581C>T (p.Leu527=)
c.159C>T (p.Leu53=)
20g.18543143C>ACA509829516SEC23Bc.1636C>A (p.Arg546=)
c.1582C>A (p.Arg528=)
c.160C>A (p.Arg54=)
20g.18543143C=CA2353564564SEC23Bc.1636C= (p.Arg546=)
c.1582C= (p.Arg528=)
c.160C= (p.Arg54=)
20g.18543143C>GCA408364194SEC23Bc.1636C>G (p.Arg546Gly)
c.1582C>G (p.Arg528Gly)
c.160C>G (p.Arg54Gly)
20g.18543143C>TCA9778429SEC23Bc.1636C>T (p.Arg546Trp)
c.1582C>T (p.Arg528Trp)
c.160C>T (p.Arg54Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543144G>ACA9778430SEC23Bc.1637G>A (p.Arg546Gln)
c.1583G>A (p.Arg528Gln)
c.161G>A (p.Arg54Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543144G>CCA408364195SEC23Bc.1637G>C (p.Arg546Pro)
c.1583G>C (p.Arg528Pro)
c.161G>C (p.Arg54Pro)
20g.18543144G=CA2353564565SEC23Bc.1637G= (p.Arg546=)
c.1583G= (p.Arg528=)
c.161G= (p.Arg54=)
20g.18543144G>TCA408364196SEC23Bc.1637G>T (p.Arg546Leu)
c.1583G>T (p.Arg528Leu)
c.161G>T (p.Arg54Leu)
 ClinVar gnomAD v4
20g.18543145G>ACA9778432SEC23Bc.1638G>A (p.Arg546=)
c.1584G>A (p.Arg528=)
c.162G>A (p.Arg54=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543145G>CCA9778431SEC23Bc.1638G>C (p.Arg546=)
c.1584G>C (p.Arg528=)
c.162G>C (p.Arg54=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543145G=CA2353564566SEC23Bc.1638G= (p.Arg546=)
c.1584G= (p.Arg528=)
c.162G= (p.Arg54=)
20g.18543145G>TCA509829529SEC23Bc.1638G>T (p.Arg546=)
c.1584G>T (p.Arg528=)
c.162G>T (p.Arg54=)
20g.18543146T>ACA408364197SEC23Bc.1639T>A (p.Trp547Arg)
c.1585T>A (p.Trp529Arg)
c.163T>A (p.Trp55Arg)
20g.18543146T>CCA408364198SEC23Bc.1639T>C (p.Trp547Arg)
c.1585T>C (p.Trp529Arg)
c.163T>C (p.Trp55Arg)
20g.18543146T>GCA408364199SEC23Bc.1639T>G (p.Trp547Gly)
c.1585T>G (p.Trp529Gly)
c.163T>G (p.Trp55Gly)
20g.18543147G>ACA408364200SEC23Bc.1640G>A (p.Trp547Ter)
c.1586G>A (p.Trp529Ter)
c.164G>A (p.Trp55Ter)
20g.18543147G>CCA408364201SEC23Bc.1640G>C (p.Trp547Ser)
c.1586G>C (p.Trp529Ser)
c.164G>C (p.Trp55Ser)
20g.18543147G>TCA408364202SEC23Bc.1640G>T (p.Trp547Leu)
c.1586G>T (p.Trp529Leu)
c.164G>T (p.Trp55Leu)
20g.18543148G>ACA9778433SEC23Bc.1641G>A (p.Trp547Ter)
c.1587G>A (p.Trp529Ter)
c.165G>A (p.Trp55Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543148G>CCA408364204SEC23Bc.1641G>C (p.Trp547Cys)
c.1587G>C (p.Trp529Cys)
c.165G>C (p.Trp55Cys)
20g.18543148G=CA2353564567SEC23Bc.1641G= (p.Trp547=)
c.1587G= (p.Trp529=)
c.165G= (p.Trp55=)
20g.18543148G>TCA408364203SEC23Bc.1641G>T (p.Trp547Cys)
c.1587G>T (p.Trp529Cys)
c.165G>T (p.Trp55Cys)
20g.18543149C>ACA408364205SEC23Bc.1642C>A (p.Leu548Met)
c.1588C>A (p.Leu530Met)
c.166C>A (p.Leu56Met)
 gnomAD v4
20g.18543149C>GCA408364206SEC23Bc.1642C>G (p.Leu548Val)
c.1588C>G (p.Leu530Val)
c.166C>G (p.Leu56Val)
 gnomAD v4
20g.18543149C>TCA509829544SEC23Bc.1642C>T (p.Leu548=)
c.1588C>T (p.Leu530=)
c.166C>T (p.Leu56=)
20g.18543150T>ACA408364207SEC23Bc.1643T>A (p.Leu548Gln)
c.1589T>A (p.Leu530Gln)
c.167T>A (p.Leu56Gln)
20g.18543150T>CCA408364208SEC23Bc.1643T>C (p.Leu548Pro)
c.1589T>C (p.Leu530Pro)
c.167T>C (p.Leu56Pro)
 gnomAD v4
20g.18543150T>GCA408364209SEC23Bc.1643T>G (p.Leu548Arg)
c.1589T>G (p.Leu530Arg)
c.167T>G (p.Leu56Arg)
20g.18543151G>ACA509829549SEC23Bc.1644G>A (p.Leu548=)
c.1590G>A (p.Leu530=)
c.168G>A (p.Leu56=)
20g.18543151G>CCA509829553SEC23Bc.1644G>C (p.Leu548=)
c.1590G>C (p.Leu530=)
c.168G>C (p.Leu56=)
20g.18543151G>TCA509829551SEC23Bc.1644G>T (p.Leu548=)
c.1590G>T (p.Leu530=)
c.168G>T (p.Leu56=)
20g.18543152_18543156dupCA2580611931SEC23Bc.1645_1649dup (p.Gln551ThrfsTer?)
c.1591_1595dup (p.Gln533ThrfsTer?)
c.169_173dup (p.Gln59ThrfsTer?)
20g.18543152G>ACA408364210SEC23Bc.1645G>A (p.Asp549Asn)
c.1591G>A (p.Asp531Asn)
c.169G>A (p.Asp57Asn)
20g.18543152G>CCA408364211SEC23Bc.1645G>C (p.Asp549His)
c.1591G>C (p.Asp531His)
c.169G>C (p.Asp57His)
20g.18543152G>TCA408364212SEC23Bc.1645G>T (p.Asp549Tyr)
c.1591G>T (p.Asp531Tyr)
c.169G>T (p.Asp57Tyr)
20g.18543152_18543159delinsGACCGACACA2353564568SEC23Bc.1645_1652delinsGACCGACA (p.Asp549=)
c.1591_1598delinsGACCGACA (p.Asp531=)
c.169_176delinsGACCGACA (p.Asp57=)
20g.18543153A>CCA408364213SEC23Bc.1646A>C (p.Asp549Ala)
c.1592A>C (p.Asp531Ala)
c.170A>C (p.Asp57Ala)
20g.18543153A>GCA408364214SEC23Bc.1646A>G (p.Asp549Gly)
c.1592A>G (p.Asp531Gly)
c.170A>G (p.Asp57Gly)
 gnomAD v4
20g.18543153A>TCA408364215SEC23Bc.1646A>T (p.Asp549Val)
c.1592A>T (p.Asp531Val)
c.170A>T (p.Asp57Val)
20g.18543155_18543161delCA9778434SEC23Bc.1648_1654del (p.Arg550SerfsTer?)
c.1594_1600del (p.Arg532SerfsTer?)
c.172_178del (p.Arg58SerfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543154C>ACA408364216SEC23Bc.1647C>A (p.Asp549Glu)
c.1593C>A (p.Asp531Glu)
c.171C>A (p.Asp57Glu)
20g.18543154C=CA2353564569SEC23Bc.1647C= (p.Asp549=)
c.1593C= (p.Asp531=)
c.171C= (p.Asp57=)
20g.18543154C>GCA408364217SEC23Bc.1647C>G (p.Asp549Glu)
c.1593C>G (p.Asp531Glu)
c.171C>G (p.Asp57Glu)
20g.18543154C>TCA509829569SEC23Bc.1647C>T (p.Asp549=)
c.1593C>T (p.Asp531=)
c.171C>T (p.Asp57=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
20g.18543155C>ACA509829571SEC23Bc.1648C>A (p.Arg550=)
c.1594C>A (p.Arg532=)
c.172C>A (p.Arg58=)
20g.18543155C=CA2353564570SEC23Bc.1648C= (p.Arg550=)
c.1594C= (p.Arg532=)
c.172C= (p.Arg58=)
20g.18543155C>GCA408364218SEC23Bc.1648C>G (p.Arg550Gly)
c.1594C>G (p.Arg532Gly)
c.172C>G (p.Arg58Gly)
 gnomAD v4
20g.18543155C>TCA234909SEC23Bc.1648C>T (p.Arg550Ter)
c.1594C>T (p.Arg532Ter)
c.172C>T (p.Arg58Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched