Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
 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)

Number of alleles fetched