Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.97515738_97515739delCA2646705839DPYDc.1732_1733del (p.Leu578Ter)
c.1524+33826_1524+33827del (n.1524+33826_1524+33827del)
c.1621_1622del (p.Leu541Ter)
c.1237_1238del (p.Leu413Ter)
gnomAD v4
1g.97515736_97515739delCA740775519DPYDc.1730_1733del (p.Ser577LeufsTer6)
c.1524+33824_1524+33827del (n.1524+33824_1524+33827del)
c.1619_1622del (p.Ser540LeufsTer6)
c.1235_1238del (p.Ser412LeufsTer6)
dbSNP
1g.97515738_97515739delinsGACA1182902251DPYDc.1727_1728delinsTC (p.Phe576=)
c.1524+33821_1524+33822delinsTC (n.1524+33821_1524+33822delinsTC)
c.1616_1617delinsTC (p.Phe539=)
c.1232_1233delinsTC (p.Phe411=)
1g.97515739A>CCA341378183DPYDc.1727T>G (p.Phe576Cys)
c.1524+33821T>G (n.1524+33821T>G)
c.1616T>G (p.Phe539Cys)
c.1232T>G (p.Phe411Cys)
1g.97515739A>GCA341378184DPYDc.1727T>C (p.Phe576Ser)
c.1524+33821T>C (n.1524+33821T>C)
c.1616T>C (p.Phe539Ser)
c.1232T>C (p.Phe411Ser)
1g.97515739A>TCA341378185DPYDc.1727T>A (p.Phe576Tyr)
c.1524+33821T>A (n.1524+33821T>A)
c.1616T>A (p.Phe539Tyr)
c.1232T>A (p.Phe411Tyr)
1g.97515741delCA963265DPYDc.1727del (p.Phe576SerfsTer8)
c.1524+33821del (n.1524+33821del)
c.1616del (p.Phe539SerfsTer8)
c.1232del (p.Phe411SerfsTer8)
ClinVar dbSNP ExAC gnomAD v2
1g.97515740A=CA1148476758DPYDc.1726T= (p.Phe576=)
c.1524+33820T= (n.1524+33820T=)
c.1615T= (p.Phe539=)
c.1231T= (p.Phe411=)
1g.97515740A>CCA963266DPYDc.1726T>G (p.Phe576Val)
c.1524+33820T>G (n.1524+33820T>G)
c.1615T>G (p.Phe539Val)
c.1231T>G (p.Phe411Val)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515740A>GCA341378187DPYDc.1726T>C (p.Phe576Leu)
c.1524+33820T>C (n.1524+33820T>C)
c.1615T>C (p.Phe539Leu)
c.1231T>C (p.Phe411Leu)
dbSNP gnomAD v2 gnomAD v4
1g.97515740A>TCA341378186DPYDc.1726T>A (p.Phe576Ile)
c.1524+33820T>A (n.1524+33820T>A)
c.1615T>A (p.Phe539Ile)
c.1231T>A (p.Phe411Ile)
dbSNP
1g.97515741A=CA1145062442DPYDc.1725T= (p.Thr575=)
c.1524+33819T= (n.1524+33819T=)
c.1614T= (p.Thr538=)
c.1230T= (p.Thr410=)
1g.97515741A>CCA419142292DPYDc.1725T>G (p.Thr575=)
c.1524+33819T>G (n.1524+33819T>G)
c.1614T>G (p.Thr538=)
c.1230T>G (p.Thr410=)
1g.97515741A>GCA963267DPYDc.1725T>C (p.Thr575=)
c.1524+33819T>C (n.1524+33819T>C)
c.1614T>C (p.Thr538=)
c.1230T>C (p.Thr410=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515741A>TCA419142296DPYDc.1725T>A (p.Thr575=)
c.1524+33819T>A (n.1524+33819T>A)
c.1614T>A (p.Thr538=)
c.1230T>A (p.Thr410=)
dbSNP
1g.97515742G>ACA341378188DPYDc.1724C>T (p.Thr575Ile)
c.1524+33818C>T (n.1524+33818C>T)
c.1613C>T (p.Thr538Ile)
c.1229C>T (p.Thr410Ile)
COSMIC
1g.97515742G>CCA341378189DPYDc.1724C>G (p.Thr575Ser)
c.1524+33818C>G (n.1524+33818C>G)
c.1613C>G (p.Thr538Ser)
c.1229C>G (p.Thr410Ser)
1g.97515742G>TCA341378190DPYDc.1724C>A (p.Thr575Asn)
c.1524+33818C>A (n.1524+33818C>A)
c.1613C>A (p.Thr538Asn)
c.1229C>A (p.Thr410Asn)
1g.97515743T>ACA341378191DPYDc.1723A>T (p.Thr575Ser)
c.1524+33817A>T (n.1524+33817A>T)
c.1612A>T (p.Thr538Ser)
c.1228A>T (p.Thr410Ser)
dbSNP
1g.97515743T>CCA341378192DPYDc.1723A>G (p.Thr575Ala)
c.1524+33817A>G (n.1524+33817A>G)
c.1612A>G (p.Thr538Ala)
c.1228A>G (p.Thr410Ala)
1g.97515743T>GCA341378193DPYDc.1723A>C (p.Thr575Pro)
c.1524+33817A>C (n.1524+33817A>C)
c.1612A>C (p.Thr538Pro)
c.1228A>C (p.Thr410Pro)
1g.97515746delCA2696707373DPYDc.1723del (p.Thr575LeufsTer9)
c.1524+33817del (n.1524+33817del)
c.1612del (p.Thr538LeufsTer9)
c.1228del (p.Thr410LeufsTer9)
dbSNP
1g.97515744T>ACA341378194DPYDc.1722A>T (p.Lys574Asn)
c.1524+33816A>T (n.1524+33816A>T)
c.1611A>T (p.Lys537Asn)
c.1227A>T (p.Lys409Asn)
1g.97515744T>CCA419142309DPYDc.1722A>G (p.Lys574=)
c.1524+33816A>G (n.1524+33816A>G)
c.1611A>G (p.Lys537=)
c.1227A>G (p.Lys409=)
gnomAD v4
1g.97515744T>GCA341378195DPYDc.1722A>C (p.Lys574Asn)
c.1524+33816A>C (n.1524+33816A>C)
c.1611A>C (p.Lys537Asn)
c.1227A>C (p.Lys409Asn)
1g.97515745T>ACA341378196DPYDc.1721A>T (p.Lys574Ile)
c.1524+33815A>T (n.1524+33815A>T)
c.1610A>T (p.Lys537Ile)
c.1226A>T (p.Lys409Ile)
1g.97515745T>CCA341378197DPYDc.1721A>G (p.Lys574Arg)
c.1524+33815A>G (n.1524+33815A>G)
c.1610A>G (p.Lys537Arg)
c.1226A>G (p.Lys409Arg)
1g.97515745T>GCA341378198DPYDc.1721A>C (p.Lys574Thr)
c.1524+33815A>C (n.1524+33815A>C)
c.1610A>C (p.Lys537Thr)
c.1226A>C (p.Lys409Thr)
1g.97515746T>ACA341378200DPYDc.1720A>T (p.Lys574Ter)
c.1524+33814A>T (n.1524+33814A>T)
c.1609A>T (p.Lys537Ter)
c.1225A>T (p.Lys409Ter)
1g.97515746T>CCA341378201DPYDc.1720A>G (p.Lys574Glu)
c.1524+33814A>G (n.1524+33814A>G)
c.1609A>G (p.Lys537Glu)
c.1225A>G (p.Lys409Glu)
dbSNP gnomAD v3 gnomAD v4
1g.97515746T>GCA341378199DPYDc.1720A>C (p.Lys574Gln)
c.1524+33814A>C (n.1524+33814A>C)
c.1609A>C (p.Lys537Gln)
c.1225A>C (p.Lys409Gln)
1g.97515746T=CA1182902253DPYDc.1720A= (p.Lys574=)
c.1524+33814A= (n.1524+33814A=)
c.1609A= (p.Lys537=)
c.1225A= (p.Lys409=)
1g.97515747G>ACA419142320DPYDc.1719C>T (p.Thr573=)
c.1524+33813C>T (n.1524+33813C>T)
c.1608C>T (p.Thr536=)
c.1224C>T (p.Thr408=)
dbSNP COSMIC
1g.97515747G>CCA419142321DPYDc.1719C>G (p.Thr573=)
c.1524+33813C>G (n.1524+33813C>G)
c.1608C>G (p.Thr536=)
c.1224C>G (p.Thr408=)
1g.97515747G=CA1182902254DPYDc.1719C= (p.Thr573=)
c.1524+33813C= (n.1524+33813C=)
c.1608C= (p.Thr536=)
c.1224C= (p.Thr408=)
1g.97515747G>TCA419142324DPYDc.1719C>A (p.Thr573=)
c.1524+33813C>A (n.1524+33813C>A)
c.1608C>A (p.Thr536=)
c.1224C>A (p.Thr408=)
dbSNP
1g.97515748delCA2696707378DPYDc.1719del (p.Thr575LeufsTer9)
c.1524+33813del (n.1524+33813del)
c.1608del (p.Thr538LeufsTer9)
c.1224del (p.Thr410LeufsTer9)
dbSNP
1g.97515748G>ACA963268DPYDc.1718C>T (p.Thr573Ile)
c.1524+33812C>T (n.1524+33812C>T)
c.1607C>T (p.Thr536Ile)
c.1223C>T (p.Thr408Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515748G>CCA341378202DPYDc.1718C>G (p.Thr573Ser)
c.1524+33812C>G (n.1524+33812C>G)
c.1607C>G (p.Thr536Ser)
c.1223C>G (p.Thr408Ser)
dbSNP
1g.97515748G=CA1146605237DPYDc.1718C= (p.Thr573=)
c.1524+33812C= (n.1524+33812C=)
c.1607C= (p.Thr536=)
c.1223C= (p.Thr408=)
1g.97515748G>TCA341378203DPYDc.1718C>A (p.Thr573Asn)
c.1524+33812C>A (n.1524+33812C>A)
c.1607C>A (p.Thr536Asn)
c.1223C>A (p.Thr408Asn)
dbSNP gnomAD v2 gnomAD v4
1g.97515749T>ACA341378204DPYDc.1717A>T (p.Thr573Ser)
c.1524+33811A>T (n.1524+33811A>T)
c.1606A>T (p.Thr536Ser)
c.1222A>T (p.Thr408Ser)
1g.97515749T>CCA341378205DPYDc.1717A>G (p.Thr573Ala)
c.1524+33811A>G (n.1524+33811A>G)
c.1606A>G (p.Thr536Ala)
c.1222A>G (p.Thr408Ala)
dbSNP
1g.97515749T>GCA341378206DPYDc.1717A>C (p.Thr573Pro)
c.1524+33811A>C (n.1524+33811A>C)
c.1606A>C (p.Thr536Pro)
c.1222A>C (p.Thr408Pro)
1g.97515750G>ACA419142335DPYDc.1716C>T (p.Leu572=)
c.1524+33810C>T (n.1524+33810C>T)
c.1605C>T (p.Leu535=)
c.1221C>T (p.Leu407=)
1g.97515750G>CCA419142337DPYDc.1716C>G (p.Leu572=)
c.1524+33810C>G (n.1524+33810C>G)
c.1605C>G (p.Leu535=)
c.1221C>G (p.Leu407=)
dbSNP
1g.97515750G>TCA419142339DPYDc.1716C>A (p.Leu572=)
c.1524+33810C>A (n.1524+33810C>A)
c.1605C>A (p.Leu535=)
c.1221C>A (p.Leu407=)
dbSNP
1g.97515751A=CA1182902255DPYDc.1715T= (p.Leu572=)
c.1524+33809T= (n.1524+33809T=)
c.1604T= (p.Leu535=)
c.1220T= (p.Leu407=)
1g.97515751A>CCA341378207DPYDc.1715T>G (p.Leu572Arg)
c.1524+33809T>G (n.1524+33809T>G)
c.1604T>G (p.Leu535Arg)
c.1220T>G (p.Leu407Arg)
1g.97515751A>GCA341378208DPYDc.1715T>C (p.Leu572Pro)
c.1524+33809T>C (n.1524+33809T>C)
c.1604T>C (p.Leu535Pro)
c.1220T>C (p.Leu407Pro)
1g.97515751A>TCA341378209DPYDc.1715T>A (p.Leu572His)
c.1524+33809T>A (n.1524+33809T>A)
c.1604T>A (p.Leu535His)
c.1220T>A (p.Leu407His)
1g.97515752G>ACA341378210DPYDc.1714C>T (p.Leu572Phe)
c.1524+33808C>T (n.1524+33808C>T)
c.1603C>T (p.Leu535Phe)
c.1219C>T (p.Leu407Phe)
1g.97515752G>CCA341378211DPYDc.1714C>G (p.Leu572Val)
c.1524+33808C>G (n.1524+33808C>G)
c.1603C>G (p.Leu535Val)
c.1219C>G (p.Leu407Val)
1g.97515752G=CA1182902256DPYDc.1714C= (p.Leu572=)
c.1524+33808C= (n.1524+33808C=)
c.1603C= (p.Leu535=)
c.1219C= (p.Leu407=)
1g.97515752G>TCA341378212DPYDc.1714C>A (p.Leu572Ile)
c.1524+33808C>A (n.1524+33808C>A)
c.1603C>A (p.Leu535Ile)
c.1219C>A (p.Leu407Ile)
dbSNP gnomAD v3 gnomAD v4
1g.97515754dupCA525177645DPYDc.1714dup (p.Leu572ProfsTer8)
c.1524+33808dup (n.1524+33808dup)
c.1603dup (p.Leu535ProfsTer8)
c.1219dup (p.Leu407ProfsTer8)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.97515753G>ACA419142350DPYDc.1713C>T (p.Ala571=)
c.1524+33807C>T (n.1524+33807C>T)
c.1602C>T (p.Ala534=)
c.1218C>T (p.Ala406=)
dbSNP gnomAD v2 gnomAD v4
1g.97515753G>CCA419142354DPYDc.1713C>G (p.Ala571=)
c.1524+33807C>G (n.1524+33807C>G)
c.1602C>G (p.Ala534=)
c.1218C>G (p.Ala406=)
dbSNP
1g.97515753G=CA1182902257DPYDc.1713C= (p.Ala571=)
c.1524+33807C= (n.1524+33807C=)
c.1602C= (p.Ala534=)
c.1218C= (p.Ala406=)
1g.97515753G>TCA419142352DPYDc.1713C>A (p.Ala571=)
c.1524+33807C>A (n.1524+33807C>A)
c.1602C>A (p.Ala534=)
c.1218C>A (p.Ala406=)
dbSNP COSMIC
1g.97515754G>ACA341378214DPYDc.1712C>T (p.Ala571Val)
c.1524+33806C>T (n.1524+33806C>T)
c.1601C>T (p.Ala534Val)
c.1217C>T (p.Ala406Val)
dbSNP gnomAD v2
1g.97515754G>CCA341378215DPYDc.1712C>G (p.Ala571Gly)
c.1524+33806C>G (n.1524+33806C>G)
c.1601C>G (p.Ala534Gly)
c.1217C>G (p.Ala406Gly)
dbSNP
1g.97515754G=CA1182902258DPYDc.1712C= (p.Ala571=)
c.1524+33806C= (n.1524+33806C=)
c.1601C= (p.Ala534=)
c.1217C= (p.Ala406=)
1g.97515754G>TCA341378213DPYDc.1712C>A (p.Ala571Asp)
c.1524+33806C>A (n.1524+33806C>A)
c.1601C>A (p.Ala534Asp)
c.1217C>A (p.Ala406Asp)
dbSNP gnomAD v3 gnomAD v4
1g.97515755C>ACA341378216DPYDc.1711G>T (p.Ala571Ser)
c.1524+33805G>T (n.1524+33805G>T)
c.1600G>T (p.Ala534Ser)
c.1216G>T (p.Ala406Ser)
1g.97515755C>GCA341378217DPYDc.1711G>C (p.Ala571Pro)
c.1524+33805G>C (n.1524+33805G>C)
c.1600G>C (p.Ala534Pro)
c.1216G>C (p.Ala406Pro)
1g.97515755C>TCA341378218DPYDc.1711G>A (p.Ala571Thr)
c.1524+33805G>A (n.1524+33805G>A)
c.1600G>A (p.Ala534Thr)
c.1216G>A (p.Ala406Thr)
1g.97515756A>CCA341378219DPYDc.1710T>G (p.Phe570Leu)
c.1524+33804T>G (n.1524+33804T>G)
c.1599T>G (p.Phe533Leu)
c.1215T>G (p.Phe405Leu)
1g.97515756A>GCA419142369DPYDc.1710T>C (p.Phe570=)
c.1524+33804T>C (n.1524+33804T>C)
c.1599T>C (p.Phe533=)
c.1215T>C (p.Phe405=)
1g.97515756A>TCA341378220DPYDc.1710T>A (p.Phe570Leu)
c.1524+33804T>A (n.1524+33804T>A)
c.1599T>A (p.Phe533Leu)
c.1215T>A (p.Phe405Leu)
1g.97515759dupCA2646705840DPYDc.1710dup (p.Ala571CysfsTer9)
c.1524+33804dup (n.1524+33804dup)
c.1599dup (p.Ala534CysfsTer9)
c.1215dup (p.Ala406CysfsTer9)
gnomAD v4
1g.97515759delCA2646705841DPYDc.1710del (p.Phe570LeufsTer14)
c.1524+33804del (n.1524+33804del)
c.1599del (p.Phe533LeufsTer14)
c.1215del (p.Phe405LeufsTer14)
gnomAD v4
1g.97515757A>CCA341378223DPYDc.1709T>G (p.Phe570Cys)
c.1524+33803T>G (n.1524+33803T>G)
c.1598T>G (p.Phe533Cys)
c.1214T>G (p.Phe405Cys)
1g.97515757A>GCA341378221DPYDc.1709T>C (p.Phe570Ser)
c.1524+33803T>C (n.1524+33803T>C)
c.1598T>C (p.Phe533Ser)
c.1214T>C (p.Phe405Ser)
1g.97515757A>TCA341378222DPYDc.1709T>A (p.Phe570Tyr)
c.1524+33803T>A (n.1524+33803T>A)
c.1598T>A (p.Phe533Tyr)
c.1214T>A (p.Phe405Tyr)
dbSNP
1g.97515758A>CCA341378224DPYDc.1708T>G (p.Phe570Val)
c.1524+33802T>G (n.1524+33802T>G)
c.1597T>G (p.Phe533Val)
c.1213T>G (p.Phe405Val)
1g.97515758A>GCA341378225DPYDc.1708T>C (p.Phe570Leu)
c.1524+33802T>C (n.1524+33802T>C)
c.1597T>C (p.Phe533Leu)
c.1213T>C (p.Phe405Leu)
1g.97515758A>TCA341378226DPYDc.1708T>A (p.Phe570Ile)
c.1524+33802T>A (n.1524+33802T>A)
c.1597T>A (p.Phe533Ile)
c.1213T>A (p.Phe405Ile)
dbSNP
1g.97515759A>CCA419142379DPYDc.1707T>G (p.Gly569=)
c.1524+33801T>G (n.1524+33801T>G)
c.1596T>G (p.Gly532=)
c.1212T>G (p.Gly404=)
dbSNP
1g.97515759A>GCA419142384DPYDc.1707T>C (p.Gly569=)
c.1524+33801T>C (n.1524+33801T>C)
c.1596T>C (p.Gly532=)
c.1212T>C (p.Gly404=)
1g.97515759A>TCA419142382DPYDc.1707T>A (p.Gly569=)
c.1524+33801T>A (n.1524+33801T>A)
c.1596T>A (p.Gly532=)
c.1212T>A (p.Gly404=)
dbSNP
1g.97515760C>ACA341378227DPYDc.1706G>T (p.Gly569Val)
c.1524+33800G>T (n.1524+33800G>T)
c.1595G>T (p.Gly532Val)
c.1211G>T (p.Gly404Val)
gnomAD v4
1g.97515760C>GCA341378228DPYDc.1706G>C (p.Gly569Ala)
c.1524+33800G>C (n.1524+33800G>C)
c.1595G>C (p.Gly532Ala)
c.1211G>C (p.Gly404Ala)
dbSNP COSMIC
1g.97515760C>TCA341378229DPYDc.1706G>A (p.Gly569Asp)
c.1524+33800G>A (n.1524+33800G>A)
c.1595G>A (p.Gly532Asp)
c.1211G>A (p.Gly404Asp)
1g.97515761C>ACA341378230DPYDc.1705G>T (p.Gly569Cys)
c.1524+33799G>T (n.1524+33799G>T)
c.1594G>T (p.Gly532Cys)
c.1210G>T (p.Gly404Cys)
gnomAD v4
1g.97515761C=CA1182902259DPYDc.1705G= (p.Gly569=)
c.1524+33799G= (n.1524+33799G=)
c.1594G= (p.Gly532=)
c.1210G= (p.Gly404=)
1g.97515761C>GCA341378231DPYDc.1705G>C (p.Gly569Arg)
c.1524+33799G>C (n.1524+33799G>C)
c.1594G>C (p.Gly532Arg)
c.1210G>C (p.Gly404Arg)
1g.97515761C>TCA27638079DPYDc.1705G>A (p.Gly569Ser)
c.1524+33799G>A (n.1524+33799G>A)
c.1594G>A (p.Gly532Ser)
c.1210G>A (p.Gly404Ser)
dbSNP
1g.97515762C>ACA341378233DPYDc.1704G>T (p.Trp568Cys)
c.1524+33798G>T (n.1524+33798G>T)
c.1593G>T (p.Trp531Cys)
c.1209G>T (p.Trp403Cys)
dbSNP gnomAD v4
1g.97515762C=CA1182902260DPYDc.1704G= (p.Trp568=)
c.1524+33798G= (n.1524+33798G=)
c.1593G= (p.Trp531=)
c.1209G= (p.Trp403=)
1g.97515762C>GCA341378232DPYDc.1704G>C (p.Trp568Cys)
c.1524+33798G>C (n.1524+33798G>C)
c.1593G>C (p.Trp531Cys)
c.1209G>C (p.Trp403Cys)
dbSNP gnomAD v2 gnomAD v4
1g.97515762C>TCA341378234DPYDc.1704G>A (p.Trp568Ter)
c.1524+33798G>A (n.1524+33798G>A)
c.1593G>A (p.Trp531Ter)
c.1209G>A (p.Trp403Ter)
dbSNP
1g.97515763C>ACA341378235DPYDc.1703G>T (p.Trp568Leu)
c.1524+33797G>T (n.1524+33797G>T)
c.1592G>T (p.Trp531Leu)
c.1208G>T (p.Trp403Leu)
1g.97515763C>GCA341378236DPYDc.1703G>C (p.Trp568Ser)
c.1524+33797G>C (n.1524+33797G>C)
c.1592G>C (p.Trp531Ser)
c.1208G>C (p.Trp403Ser)
dbSNP
1g.97515763C>TCA341378237DPYDc.1703G>A (p.Trp568Ter)
c.1524+33797G>A (n.1524+33797G>A)
c.1592G>A (p.Trp531Ter)
c.1208G>A (p.Trp403Ter)
dbSNP
1g.97515764A>CCA341378238DPYDc.1702T>G (p.Trp568Gly)
c.1524+33796T>G (n.1524+33796T>G)
c.1591T>G (p.Trp531Gly)
c.1207T>G (p.Trp403Gly)
1g.97515764A>GCA341378239DPYDc.1702T>C (p.Trp568Arg)
c.1524+33796T>C (n.1524+33796T>C)
c.1591T>C (p.Trp531Arg)
c.1207T>C (p.Trp403Arg)
1g.97515764A>TCA341378240DPYDc.1702T>A (p.Trp568Arg)
c.1524+33796T>A (n.1524+33796T>A)
c.1591T>A (p.Trp531Arg)
c.1207T>A (p.Trp403Arg)
dbSNP
1g.97515765T>ACA963269DPYDc.1701A>T (p.Gly567=)
c.1524+33795A>T (n.1524+33795A>T)
c.1590A>T (p.Gly530=)
c.1206A>T (p.Gly402=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515765T>CCA963270DPYDc.1701A>G (p.Gly567=)
c.1524+33795A>G (n.1524+33795A>G)
c.1590A>G (p.Gly530=)
c.1206A>G (p.Gly402=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515765T>GCA419142412DPYDc.1701A>C (p.Gly567=)
c.1524+33795A>C (n.1524+33795A>C)
c.1590A>C (p.Gly530=)
c.1206A>C (p.Gly402=)
1g.97515765T=CA1142236162DPYDc.1701A= (p.Gly567=)
c.1524+33795A= (n.1524+33795A=)
c.1590A= (p.Gly530=)
c.1206A= (p.Gly402=)
1g.97515766C>ACA341378241DPYDc.1700G>T (p.Gly567Val)
c.1524+33794G>T (n.1524+33794G>T)
c.1589G>T (p.Gly530Val)
c.1205G>T (p.Gly402Val)
dbSNP gnomAD v4 COSMIC
1g.97515766C=CA1182902261DPYDc.1700G= (p.Gly567=)
c.1524+33794G= (n.1524+33794G=)
c.1589G= (p.Gly530=)
c.1205G= (p.Gly402=)
1g.97515766C>GCA341378242DPYDc.1700G>C (p.Gly567Ala)
c.1524+33794G>C (n.1524+33794G>C)
c.1589G>C (p.Gly530Ala)
c.1205G>C (p.Gly402Ala)
dbSNP gnomAD v4
1g.97515766C>TCA341378243DPYDc.1700G>A (p.Gly567Glu)
c.1524+33794G>A (n.1524+33794G>A)
c.1589G>A (p.Gly530Glu)
c.1205G>A (p.Gly402Glu)
dbSNP gnomAD v2 gnomAD v4
1g.97515767C>ACA341378246DPYDc.1699G>T (p.Gly567Ter)
c.1524+33793G>T (n.1524+33793G>T)
c.1588G>T (p.Gly530Ter)
c.1204G>T (p.Gly402Ter)
dbSNP
1g.97515767C>GCA341378244DPYDc.1699G>C (p.Gly567Arg)
c.1524+33793G>C (n.1524+33793G>C)
c.1588G>C (p.Gly530Arg)
c.1204G>C (p.Gly402Arg)
1g.97515767C>TCA341378245DPYDc.1699G>A (p.Gly567Arg)
c.1524+33793G>A (n.1524+33793G>A)
c.1588G>A (p.Gly530Arg)
c.1204G>A (p.Gly402Arg)
dbSNP
1g.97515768A=CA1182902262DPYDc.1698T= (p.Ala566=)
c.1524+33792T= (n.1524+33792T=)
c.1587T= (p.Ala529=)
c.1203T= (p.Ala401=)
1g.97515768A>CCA419142422DPYDc.1698T>G (p.Ala566=)
c.1524+33792T>G (n.1524+33792T>G)
c.1587T>G (p.Ala529=)
c.1203T>G (p.Ala401=)
1g.97515768A>GCA419142425DPYDc.1698T>C (p.Ala566=)
c.1524+33792T>C (n.1524+33792T>C)
c.1587T>C (p.Ala529=)
c.1203T>C (p.Ala401=)
1g.97515768A>TCA419142426DPYDc.1698T>A (p.Ala566=)
c.1524+33792T>A (n.1524+33792T>A)
c.1587T>A (p.Ala529=)
c.1203T>A (p.Ala401=)
dbSNP gnomAD v4
1g.97515769G>ACA341378247DPYDc.1697C>T (p.Ala566Val)
c.1524+33791C>T (n.1524+33791C>T)
c.1586C>T (p.Ala529Val)
c.1202C>T (p.Ala401Val)
dbSNP gnomAD v4
1g.97515769G>CCA963271DPYDc.1697C>G (p.Ala566Gly)
c.1524+33791C>G (n.1524+33791C>G)
c.1586C>G (p.Ala529Gly)
c.1202C>G (p.Ala401Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515769G=CA1182902263DPYDc.1697C= (p.Ala566=)
c.1524+33791C= (n.1524+33791C=)
c.1586C= (p.Ala529=)
c.1202C= (p.Ala401=)
1g.97515769G>TCA341378248DPYDc.1697C>A (p.Ala566Asp)
c.1524+33791C>A (n.1524+33791C>A)
c.1586C>A (p.Ala529Asp)
c.1202C>A (p.Ala401Asp)
dbSNP gnomAD v3 gnomAD v4
1g.97515770C>ACA341378249DPYDc.1696G>T (p.Ala566Ser)
c.1524+33790G>T (n.1524+33790G>T)
c.1585G>T (p.Ala529Ser)
c.1201G>T (p.Ala401Ser)
1g.97515770C>GCA341378250DPYDc.1696G>C (p.Ala566Pro)
c.1524+33790G>C (n.1524+33790G>C)
c.1585G>C (p.Ala529Pro)
c.1201G>C (p.Ala401Pro)
dbSNP
1g.97515770C>TCA341378251DPYDc.1696G>A (p.Ala566Thr)
c.1524+33790G>A (n.1524+33790G>A)
c.1585G>A (p.Ala529Thr)
c.1201G>A (p.Ala401Thr)
dbSNP
1g.97515771T>ACA341378252DPYDc.1695A>T (p.Glu565Asp)
c.1524+33789A>T (n.1524+33789A>T)
c.1584A>T (p.Glu528Asp)
c.1200A>T (p.Glu400Asp)
dbSNP
1g.97515771T>CCA419142442DPYDc.1695A>G (p.Glu565=)
c.1524+33789A>G (n.1524+33789A>G)
c.1584A>G (p.Glu528=)
c.1200A>G (p.Glu400=)
1g.97515771T>GCA341378253DPYDc.1695A>C (p.Glu565Asp)
c.1524+33789A>C (n.1524+33789A>C)
c.1584A>C (p.Glu528Asp)
c.1200A>C (p.Glu400Asp)
1g.97515772T>ACA341378254DPYDc.1694A>T (p.Glu565Val)
c.1524+33788A>T (n.1524+33788A>T)
c.1583A>T (p.Glu528Val)
c.1199A>T (p.Glu400Val)
dbSNP
1g.97515772T>CCA341378255DPYDc.1694A>G (p.Glu565Gly)
c.1524+33788A>G (n.1524+33788A>G)
c.1583A>G (p.Glu528Gly)
c.1199A>G (p.Glu400Gly)
1g.97515772T>GCA341378256DPYDc.1694A>C (p.Glu565Ala)
c.1524+33788A>C (n.1524+33788A>C)
c.1583A>C (p.Glu528Ala)
c.1199A>C (p.Glu400Ala)
1g.97515773C>ACA341378258DPYDc.1693G>T (p.Glu565Ter)
c.1524+33787G>T (n.1524+33787G>T)
c.1582G>T (p.Glu528Ter)
c.1198G>T (p.Glu400Ter)
1g.97515773C>GCA341378259DPYDc.1693G>C (p.Glu565Gln)
c.1524+33787G>C (n.1524+33787G>C)
c.1582G>C (p.Glu528Gln)
c.1198G>C (p.Glu400Gln)
dbSNP
1g.97515773C>TCA341378257DPYDc.1693G>A (p.Glu565Lys)
c.1524+33787G>A (n.1524+33787G>A)
c.1582G>A (p.Glu528Lys)
c.1198G>A (p.Glu400Lys)
dbSNP
1g.97515774A=CA1182902264DPYDc.1692T= (p.Phe564=)
c.1524+33786T= (n.1524+33786T=)
c.1581T= (p.Phe527=)
c.1197T= (p.Phe399=)
1g.97515774A>CCA341378260DPYDc.1692T>G (p.Phe564Leu)
c.1524+33786T>G (n.1524+33786T>G)
c.1581T>G (p.Phe527Leu)
c.1197T>G (p.Phe399Leu)
1g.97515774A>GCA419142456DPYDc.1692T>C (p.Phe564=)
c.1524+33786T>C (n.1524+33786T>C)
c.1581T>C (p.Phe527=)
c.1197T>C (p.Phe399=)
1g.97515774A>TCA963272DPYDc.1692T>A (p.Phe564Leu)
c.1524+33786T>A (n.1524+33786T>A)
c.1581T>A (p.Phe527Leu)
c.1197T>A (p.Phe399Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515775A>CCA341378261DPYDc.1691T>G (p.Phe564Cys)
c.1524+33785T>G (n.1524+33785T>G)
c.1580T>G (p.Phe527Cys)
c.1196T>G (p.Phe399Cys)
1g.97515775A>GCA341378262DPYDc.1691T>C (p.Phe564Ser)
c.1524+33785T>C (n.1524+33785T>C)
c.1580T>C (p.Phe527Ser)
c.1196T>C (p.Phe399Ser)
gnomAD v4
1g.97515775A>TCA341378263DPYDc.1691T>A (p.Phe564Tyr)
c.1524+33785T>A (n.1524+33785T>A)
c.1580T>A (p.Phe527Tyr)
c.1196T>A (p.Phe399Tyr)
dbSNP
1g.97515776A>CCA341378264DPYDc.1690T>G (p.Phe564Val)
c.1524+33784T>G (n.1524+33784T>G)
c.1579T>G (p.Phe527Val)
c.1195T>G (p.Phe399Val)
gnomAD v4
1g.97515776A>GCA341378265DPYDc.1690T>C (p.Phe564Leu)
c.1524+33784T>C (n.1524+33784T>C)
c.1579T>C (p.Phe527Leu)
c.1195T>C (p.Phe399Leu)
1g.97515776A>TCA341378266DPYDc.1690T>A (p.Phe564Ile)
c.1524+33784T>A (n.1524+33784T>A)
c.1579T>A (p.Phe527Ile)
c.1195T>A (p.Phe399Ile)
dbSNP
1g.97515777A>CCA419142467DPYDc.1689T>G (p.Ala563=)
c.1524+33783T>G (n.1524+33783T>G)
c.1578T>G (p.Ala526=)
c.1194T>G (p.Ala398=)
1g.97515777A>GCA419142469DPYDc.1689T>C (p.Ala563=)
c.1524+33783T>C (n.1524+33783T>C)
c.1578T>C (p.Ala526=)
c.1194T>C (p.Ala398=)
1g.97515777A>TCA419142471DPYDc.1689T>A (p.Ala563=)
c.1524+33783T>A (n.1524+33783T>A)
c.1578T>A (p.Ala526=)
c.1194T>A (p.Ala398=)
1g.97515778G>ACA963273DPYDc.1688C>T (p.Ala563Val)
c.1524+33782C>T (n.1524+33782C>T)
c.1577C>T (p.Ala526Val)
c.1193C>T (p.Ala398Val)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515778G>CCA341378267DPYDc.1688C>G (p.Ala563Gly)
c.1524+33782C>G (n.1524+33782C>G)
c.1577C>G (p.Ala526Gly)
c.1193C>G (p.Ala398Gly)
dbSNP
1g.97515778G=CA1182902265DPYDc.1688C= (p.Ala563=)
c.1524+33782C= (n.1524+33782C=)
c.1577C= (p.Ala526=)
c.1193C= (p.Ala398=)
1g.97515778G>TCA341378268DPYDc.1688C>A (p.Ala563Asp)
c.1524+33782C>A (n.1524+33782C>A)
c.1577C>A (p.Ala526Asp)
c.1193C>A (p.Ala398Asp)
1g.97515779C>ACA341378270DPYDc.1687G>T (p.Ala563Ser)
c.1524+33781G>T (n.1524+33781G>T)
c.1576G>T (p.Ala526Ser)
c.1192G>T (p.Ala398Ser)
dbSNP gnomAD v3 gnomAD v4
1g.97515779C=CA1182902266DPYDc.1687G= (p.Ala563=)
c.1524+33781G= (n.1524+33781G=)
c.1576G= (p.Ala526=)
c.1192G= (p.Ala398=)
1g.97515779C>GCA341378271DPYDc.1687G>C (p.Ala563Pro)
c.1524+33781G>C (n.1524+33781G>C)
c.1576G>C (p.Ala526Pro)
c.1192G>C (p.Ala398Pro)
dbSNP gnomAD v4
1g.97515779C>TCA341378269DPYDc.1687G>A (p.Ala563Thr)
c.1524+33781G>A (n.1524+33781G>A)
c.1576G>A (p.Ala526Thr)
c.1192G>A (p.Ala398Thr)
dbSNP gnomAD v3 gnomAD v4
1g.97515780T>ACA963274DPYDc.1686A>T (p.Arg562Ser)
c.1524+33780A>T (n.1524+33780A>T)
c.1575A>T (p.Arg525Ser)
c.1191A>T (p.Arg397Ser)
dbSNP ExAC gnomAD v2
1g.97515780T>CCA419142481DPYDc.1686A>G (p.Arg562=)
c.1524+33780A>G (n.1524+33780A>G)
c.1575A>G (p.Arg525=)
c.1191A>G (p.Arg397=)
dbSNP
1g.97515780T>GCA341378272DPYDc.1686A>C (p.Arg562Ser)
c.1524+33780A>C (n.1524+33780A>C)
c.1575A>C (p.Arg525Ser)
c.1191A>C (p.Arg397Ser)
1g.97515780T=CA1182902267DPYDc.1686A= (p.Arg562=)
c.1524+33780A= (n.1524+33780A=)
c.1575A= (p.Arg525=)
c.1191A= (p.Arg397=)
1g.97515781C>ACA341378273DPYDc.1685G>T (p.Arg562Ile)
c.1524+33779G>T (n.1524+33779G>T)
c.1574G>T (p.Arg525Ile)
c.1190G>T (p.Arg397Ile)
dbSNP
1g.97515781C>GCA341378274DPYDc.1685G>C (p.Arg562Thr)
c.1524+33779G>C (n.1524+33779G>C)
c.1574G>C (p.Arg525Thr)
c.1190G>C (p.Arg397Thr)
dbSNP
1g.97515781C>TCA341378275DPYDc.1685G>A (p.Arg562Lys)
c.1524+33779G>A (n.1524+33779G>A)
c.1574G>A (p.Arg525Lys)
c.1190G>A (p.Arg397Lys)
dbSNP
1g.97515782T>ACA341378277DPYDc.1684A>T (p.Arg562Ter)
c.1524+33778A>T (n.1524+33778A>T)
c.1573A>T (p.Arg525Ter)
c.1189A>T (p.Arg397Ter)
dbSNP
1g.97515782T>CCA341378276DPYDc.1684A>G (p.Arg562Gly)
c.1524+33778A>G (n.1524+33778A>G)
c.1573A>G (p.Arg525Gly)
c.1189A>G (p.Arg397Gly)
COSMIC
1g.97515782T>GCA963275DPYDc.1684A>C (p.Arg562=)
c.1524+33778A>C (n.1524+33778A>C)
c.1573A>C (p.Arg525=)
c.1189A>C (p.Arg397=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515782T=CA1182902268DPYDc.1684A= (p.Arg562=)
c.1524+33778A= (n.1524+33778A=)
c.1573A= (p.Arg525=)
c.1189A= (p.Arg397=)
1g.97515783T>ACA419142495DPYDc.1683A>T (p.Arg561=)
c.1524+33777A>T (n.1524+33777A>T)
c.1572A>T (p.Arg524=)
c.1188A>T (p.Arg396=)
1g.97515783T>CCA419142497DPYDc.1683A>G (p.Arg561=)
c.1524+33777A>G (n.1524+33777A>G)
c.1572A>G (p.Arg524=)
c.1188A>G (p.Arg396=)
1g.97515783T>GCA419142498DPYDc.1683A>C (p.Arg561=)
c.1524+33777A>C (n.1524+33777A>C)
c.1572A>C (p.Arg524=)
c.1188A>C (p.Arg396=)
ClinVar dbSNP
1g.97515783T=CA1182902269DPYDc.1683A= (p.Arg561=)
c.1524+33777A= (n.1524+33777A=)
c.1572A= (p.Arg524=)
c.1188A= (p.Arg396=)
1g.97515783_97515784insACA2696708418DPYDc.1682_1683insT (p.Arg562LysfsTer4)
c.1524+33776_1524+33777insT (n.1524+33776_1524+33777insT)
c.1571_1572insT (p.Arg525LysfsTer4)
c.1187_1188insT (p.Arg397LysfsTer4)
dbSNP
1g.97515784C>ACA27638110DPYDc.1682G>T (p.Arg561Leu)
c.1524+33776G>T (n.1524+33776G>T)
c.1571G>T (p.Arg524Leu)
c.1187G>T (p.Arg396Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97515784C=CA1143494439DPYDc.1682G= (p.Arg561=)
c.1524+33776G= (n.1524+33776G=)
c.1571G= (p.Arg524=)
c.1187G= (p.Arg396=)
1g.97515784C>GCA341378278DPYDc.1682G>C (p.Arg561Pro)
c.1524+33776G>C (n.1524+33776G>C)
c.1571G>C (p.Arg524Pro)
c.1187G>C (p.Arg396Pro)
dbSNP
1g.97515784C>TCA963276DPYDc.1682G>A (p.Arg561Gln)
c.1524+33776G>A (n.1524+33776G>A)
c.1571G>A (p.Arg524Gln)
c.1187G>A (p.Arg396Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.97515785G>ACA16040802DPYDc.1681C>T (p.Arg561Ter)
c.1524+33775C>T (n.1524+33775C>T)
c.1570C>T (p.Arg524Ter)
c.1186C>T (p.Arg396Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.97515785G>CCA341378279DPYDc.1681C>G (p.Arg561Gly)
c.1524+33775C>G (n.1524+33775C>G)
c.1570C>G (p.Arg524Gly)
c.1186C>G (p.Arg396Gly)
dbSNP gnomAD v4
1g.97515785G=CA1182902270DPYDc.1681C= (p.Arg561=)
c.1524+33775C= (n.1524+33775C=)
c.1570C= (p.Arg524=)
c.1186C= (p.Arg396=)
1g.97515785G>TCA419142506DPYDc.1681C>A (p.Arg561=)
c.1524+33775C>A (n.1524+33775C>A)
c.1570C>A (p.Arg524=)
c.1186C>A (p.Arg396=)
dbSNP gnomAD v4
1g.97515786A=CA1182902271DPYDc.1680T= (p.Ile560=)
c.1524+33774T= (n.1524+33774T=)
c.1569T= (p.Ile523=)
c.1185T= (p.Ile395=)
1g.97515786A>CCA341378280DPYDc.1680T>G (p.Ile560Met)
c.1524+33774T>G (n.1524+33774T>G)
c.1569T>G (p.Ile523Met)
c.1185T>G (p.Ile395Met)
1g.97515786A>GCA419142512DPYDc.1680T>C (p.Ile560=)
c.1524+33774T>C (n.1524+33774T>C)
c.1569T>C (p.Ile523=)
c.1185T>C (p.Ile395=)
dbSNP gnomAD v3 gnomAD v4
1g.97515786A>TCA419142514DPYDc.1680T>A (p.Ile560=)
c.1524+33774T>A (n.1524+33774T>A)
c.1569T>A (p.Ile523=)
c.1185T>A (p.Ile395=)
dbSNP gnomAD v4
1g.97515787A=CA1140625293DPYDc.1679T= (p.Ile560=)
c.1524+33773T= (n.1524+33773T=)
c.1568T= (p.Ile523=)
c.1184T= (p.Ile395=)
1g.97515787A>CCA228118DPYDc.1679T>G (p.Ile560Ser)
c.1524+33773T>G (n.1524+33773T>G)
c.1568T>G (p.Ile523Ser)
c.1184T>G (p.Ile395Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515787A>GCA341378281DPYDc.1679T>C (p.Ile560Thr)
c.1524+33773T>C (n.1524+33773T>C)
c.1568T>C (p.Ile523Thr)
c.1184T>C (p.Ile395Thr)
1g.97515787A>TCA27638125DPYDc.1679T>A (p.Ile560Asn)
c.1524+33773T>A (n.1524+33773T>A)
c.1568T>A (p.Ile523Asn)
c.1184T>A (p.Ile395Asn)
dbSNP
1g.97515788T>ACA341378284DPYDc.1678A>T (p.Ile560Phe)
c.1524+33772A>T (n.1524+33772A>T)
c.1567A>T (p.Ile523Phe)
c.1183A>T (p.Ile395Phe)
dbSNP
1g.97515788T>CCA341378282DPYDc.1678A>G (p.Ile560Val)
c.1524+33772A>G (n.1524+33772A>G)
c.1567A>G (p.Ile523Val)
c.1183A>G (p.Ile395Val)
dbSNP gnomAD v2 gnomAD v4
1g.97515788T>GCA341378283DPYDc.1678A>C (p.Ile560Leu)
c.1524+33772A>C (n.1524+33772A>C)
c.1567A>C (p.Ile523Leu)
c.1183A>C (p.Ile395Leu)
gnomAD v4
1g.97515788T=CA1182902272DPYDc.1678A= (p.Ile560=)
c.1524+33772A= (n.1524+33772A=)
c.1567A= (p.Ile523=)
c.1183A= (p.Ile395=)
1g.97515789C>ACA341378285DPYDc.1677G>T (p.Met559Ile)
c.1524+33771G>T (n.1524+33771G>T)
c.1566G>T (p.Met522Ile)
c.1182G>T (p.Met394Ile)
dbSNP
1g.97515789C>GCA341378286DPYDc.1677G>C (p.Met559Ile)
c.1524+33771G>C (n.1524+33771G>C)
c.1566G>C (p.Met522Ile)
c.1182G>C (p.Met394Ile)
dbSNP
1g.97515789C>TCA341378287DPYDc.1677G>A (p.Met559Ile)
c.1524+33771G>A (n.1524+33771G>A)
c.1566G>A (p.Met522Ile)
c.1182G>A (p.Met394Ile)
dbSNP
1g.97515790A=CA1182902273DPYDc.1676T= (p.Met559=)
c.1524+33770T= (n.1524+33770T=)
c.1565T= (p.Met522=)
c.1181T= (p.Met394=)
1g.97515790A>CCA341378288DPYDc.1676T>G (p.Met559Arg)
c.1524+33770T>G (n.1524+33770T>G)
c.1565T>G (p.Met522Arg)
c.1181T>G (p.Met394Arg)
dbSNP
1g.97515790A>GCA341378289DPYDc.1676T>C (p.Met559Thr)
c.1524+33770T>C (n.1524+33770T>C)
c.1565T>C (p.Met522Thr)
c.1181T>C (p.Met394Thr)
dbSNP
1g.97515790A>TCA341378290DPYDc.1676T>A (p.Met559Lys)
c.1524+33770T>A (n.1524+33770T>A)
c.1565T>A (p.Met522Lys)
c.1181T>A (p.Met394Lys)
dbSNP
1g.97515791T>ACA341378291DPYDc.1675A>T (p.Met559Leu)
c.1524+33769A>T (n.1524+33769A>T)
c.1564A>T (p.Met522Leu)
c.1180A>T (p.Met394Leu)
1g.97515791T>CCA963277DPYDc.1675A>G (p.Met559Val)
c.1524+33769A>G (n.1524+33769A>G)
c.1564A>G (p.Met522Val)
c.1180A>G (p.Met394Val)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515791T>GCA341378292DPYDc.1675A>C (p.Met559Leu)
c.1524+33769A>C (n.1524+33769A>C)
c.1564A>C (p.Met522Leu)
c.1180A>C (p.Met394Leu)
1g.97515791T=CA1182902274DPYDc.1675A= (p.Met559=)
c.1524+33769A= (n.1524+33769A=)
c.1564A= (p.Met522=)
c.1180A= (p.Met394=)
1g.97515792T>ACA419142537DPYDc.1674A>T (p.Ser558=)
c.1524+33768A>T (n.1524+33768A>T)
c.1563A>T (p.Ser521=)
c.1179A>T (p.Ser393=)
dbSNP
1g.97515792T>CCA419142539DPYDc.1674A>G (p.Ser558=)
c.1524+33768A>G (n.1524+33768A>G)
c.1563A>G (p.Ser521=)
c.1179A>G (p.Ser393=)
dbSNP gnomAD v3 gnomAD v4
1g.97515792T>GCA419142541DPYDc.1674A>C (p.Ser558=)
c.1524+33768A>C (n.1524+33768A>C)
c.1563A>C (p.Ser521=)
c.1179A>C (p.Ser393=)
1g.97515792T=CA1182902275DPYDc.1674A= (p.Ser558=)
c.1524+33768A= (n.1524+33768A=)
c.1563A= (p.Ser521=)
c.1179A= (p.Ser393=)
1g.97515793G>ACA341378295DPYDc.1673C>T (p.Ser558Leu)
c.1524+33767C>T (n.1524+33767C>T)
c.1562C>T (p.Ser521Leu)
c.1178C>T (p.Ser393Leu)
dbSNP
1g.97515793G>CCA341378294DPYDc.1673C>G (p.Ser558Ter)
c.1524+33767C>G (n.1524+33767C>G)
c.1562C>G (p.Ser521Ter)
c.1178C>G (p.Ser393Ter)
dbSNP
1g.97515793G>TCA341378293DPYDc.1673C>A (p.Ser558Ter)
c.1524+33767C>A (n.1524+33767C>A)
c.1562C>A (p.Ser521Ter)
c.1178C>A (p.Ser393Ter)
dbSNP
1g.97515794A>CCA341378296DPYDc.1672T>G (p.Ser558Ala)
c.1524+33766T>G (n.1524+33766T>G)
c.1561T>G (p.Ser521Ala)
c.1177T>G (p.Ser393Ala)
gnomAD v3 gnomAD v4
1g.97515794A>GCA341378297DPYDc.1672T>C (p.Ser558Pro)
c.1524+33766T>C (n.1524+33766T>C)
c.1561T>C (p.Ser521Pro)
c.1177T>C (p.Ser393Pro)
1g.97515794A>TCA341378298DPYDc.1672T>A (p.Ser558Thr)
c.1524+33766T>A (n.1524+33766T>A)
c.1561T>A (p.Ser521Thr)
c.1177T>A (p.Ser393Thr)
dbSNP
1g.97515794_97515795delinsATCA1182902276DPYDc.1671_1672delinsAT (p.Thr557=)
c.1524+33765_1524+33766delinsAT (n.1524+33765_1524+33766delinsAT)
c.1560_1561delinsAT (p.Thr520=)
c.1176_1177delinsAT (p.Thr392=)
1g.97515795delCA16040803DPYDc.1671del (p.Ser558GlnfsTer2)
c.1524+33765del (n.1524+33765del)
c.1560del (p.Ser521GlnfsTer2)
c.1176del (p.Ser393GlnfsTer2)
ClinVar dbSNP
1g.97515795T>ACA419142555DPYDc.1671A>T (p.Thr557=)
c.1524+33765A>T (n.1524+33765A>T)
c.1560A>T (p.Thr520=)
c.1176A>T (p.Thr392=)
gnomAD v4
1g.97515795T>CCA963278DPYDc.1671A>G (p.Thr557=)
c.1524+33765A>G (n.1524+33765A>G)
c.1560A>G (p.Thr520=)
c.1176A>G (p.Thr392=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515795T>GCA419142553DPYDc.1671A>C (p.Thr557=)
c.1524+33765A>C (n.1524+33765A>C)
c.1560A>C (p.Thr520=)
c.1176A>C (p.Thr392=)
gnomAD v4
1g.97515795T=CA1182902277DPYDc.1671A= (p.Thr557=)
c.1524+33765A= (n.1524+33765A=)
c.1560A= (p.Thr520=)
c.1176A= (p.Thr392=)
1g.97515796G>ACA963279DPYDc.1670C>T (p.Thr557Ile)
c.1524+33764C>T (n.1524+33764C>T)
c.1559C>T (p.Thr520Ile)
c.1175C>T (p.Thr392Ile)
ClinVar dbSNP ExAC gnomAD v4
1g.97515796G>CCA341378299DPYDc.1670C>G (p.Thr557Arg)
c.1524+33764C>G (n.1524+33764C>G)
c.1559C>G (p.Thr520Arg)
c.1175C>G (p.Thr392Arg)
dbSNP gnomAD v2 gnomAD v4
1g.97515796G=CA1182902278DPYDc.1670C= (p.Thr557=)
c.1524+33764C= (n.1524+33764C=)
c.1559C= (p.Thr520=)
c.1175C= (p.Thr392=)
1g.97515796G>TCA27638138DPYDc.1670C>A (p.Thr557Lys)
c.1524+33764C>A (n.1524+33764C>A)
c.1559C>A (p.Thr520Lys)
c.1175C>A (p.Thr392Lys)
dbSNP gnomAD v4
1g.97515797T>ACA341378300DPYDc.1669A>T (p.Thr557Ser)
c.1524+33763A>T (n.1524+33763A>T)
c.1558A>T (p.Thr520Ser)
c.1174A>T (p.Thr392Ser)
1g.97515797T>CCA341378301DPYDc.1669A>G (p.Thr557Ala)
c.1524+33763A>G (n.1524+33763A>G)
c.1558A>G (p.Thr520Ala)
c.1174A>G (p.Thr392Ala)
1g.97515797T>GCA341378302DPYDc.1669A>C (p.Thr557Pro)
c.1524+33763A>C (n.1524+33763A>C)
c.1558A>C (p.Thr520Pro)
c.1174A>C (p.Thr392Pro)
gnomAD v4
1g.97515799_97515801dupCA2646705842DPYDc.1667_1669dup (p.Ser556_Thr557insSer)
c.1524+33761_1524+33763dup (n.1524+33761_1524+33763dup)
c.1556_1558dup (p.Ser519_Thr520insSer)
c.1172_1174dup (p.Ser391_Thr392insSer)
gnomAD v4
1g.97515798G>ACA419142571DPYDc.1668C>T (p.Ser556=)
c.1524+33762C>T (n.1524+33762C>T)
c.1557C>T (p.Ser519=)
c.1173C>T (p.Ser391=)
dbSNP gnomAD v4
1g.97515798G>CCA341378303DPYDc.1668C>G (p.Ser556Arg)
c.1524+33762C>G (n.1524+33762C>G)
c.1557C>G (p.Ser519Arg)
c.1173C>G (p.Ser391Arg)
1g.97515798G>TCA341378304DPYDc.1668C>A (p.Ser556Arg)
c.1524+33762C>A (n.1524+33762C>A)
c.1557C>A (p.Ser519Arg)
c.1173C>A (p.Ser391Arg)
1g.97515799C>ACA341378306DPYDc.1667G>T (p.Ser556Ile)
c.1524+33761G>T (n.1524+33761G>T)
c.1556G>T (p.Ser519Ile)
c.1172G>T (p.Ser391Ile)
dbSNP
1g.97515799C=CA1182902279DPYDc.1667G= (p.Ser556=)
c.1524+33761G= (n.1524+33761G=)
c.1556G= (p.Ser519=)
c.1172G= (p.Ser391=)
1g.97515799C>GCA341378307DPYDc.1667G>C (p.Ser556Thr)
c.1524+33761G>C (n.1524+33761G>C)
c.1556G>C (p.Ser519Thr)
c.1172G>C (p.Ser391Thr)
dbSNP
1g.97515799C>TCA341378305DPYDc.1667G>A (p.Ser556Asn)
c.1524+33761G>A (n.1524+33761G>A)
c.1556G>A (p.Ser519Asn)
c.1172G>A (p.Ser391Asn)
dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.97515800T>ACA341378308DPYDc.1666A>T (p.Ser556Cys)
c.1524+33760A>T (n.1524+33760A>T)
c.1555A>T (p.Ser519Cys)
c.1171A>T (p.Ser391Cys)
1g.97515800T>CCA341378309DPYDc.1666A>G (p.Ser556Gly)
c.1524+33760A>G (n.1524+33760A>G)
c.1555A>G (p.Ser519Gly)
c.1171A>G (p.Ser391Gly)
dbSNP
1g.97515800T>GCA963280DPYDc.1666A>C (p.Ser556Arg)
c.1524+33760A>C (n.1524+33760A>C)
c.1555A>C (p.Ser519Arg)
c.1171A>C (p.Ser391Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515800T=CA1182902280DPYDc.1666A= (p.Ser556=)
c.1524+33760A= (n.1524+33760A=)
c.1555A= (p.Ser519=)
c.1171A= (p.Ser391=)
1g.97515801G>ACA419142582DPYDc.1665C>T (p.Thr555=)
c.1524+33759C>T (n.1524+33759C>T)
c.1554C>T (p.Thr518=)
c.1170C>T (p.Thr390=)
dbSNP
1g.97515801G>CCA419142586DPYDc.1665C>G (p.Thr555=)
c.1524+33759C>G (n.1524+33759C>G)
c.1554C>G (p.Thr518=)
c.1170C>G (p.Thr390=)
1g.97515801G>TCA419142584DPYDc.1665C>A (p.Thr555=)
c.1524+33759C>A (n.1524+33759C>A)
c.1554C>A (p.Thr518=)
c.1170C>A (p.Thr390=)
gnomAD v4
1g.97515802delCA2696709061DPYDc.1665del (p.Ser556AlafsTer4)
c.1524+33759del (n.1524+33759del)
c.1554del (p.Ser519AlafsTer4)
c.1170del (p.Ser391AlafsTer4)
dbSNP
1g.97515802G>ACA341378310DPYDc.1664C>T (p.Thr555Ile)
c.1524+33758C>T (n.1524+33758C>T)
c.1553C>T (p.Thr518Ile)
c.1169C>T (p.Thr390Ile)
dbSNP
1g.97515802G>CCA341378311DPYDc.1664C>G (p.Thr555Ser)
c.1524+33758C>G (n.1524+33758C>G)
c.1553C>G (p.Thr518Ser)
c.1169C>G (p.Thr390Ser)
dbSNP gnomAD v4
1g.97515802G>TCA341378312DPYDc.1664C>A (p.Thr555Asn)
c.1524+33758C>A (n.1524+33758C>A)
c.1553C>A (p.Thr518Asn)
c.1169C>A (p.Thr390Asn)
gnomAD v4
1g.97515803T>ACA341378313DPYDc.1663A>T (p.Thr555Ser)
c.1524+33757A>T (n.1524+33757A>T)
c.1552A>T (p.Thr518Ser)
c.1168A>T (p.Thr390Ser)
1g.97515803T>CCA341378314DPYDc.1663A>G (p.Thr555Ala)
c.1524+33757A>G (n.1524+33757A>G)
c.1552A>G (p.Thr518Ala)
c.1168A>G (p.Thr390Ala)
gnomAD v4
1g.97515803T>GCA341378315DPYDc.1663A>C (p.Thr555Pro)
c.1524+33757A>C (n.1524+33757A>C)
c.1552A>C (p.Thr518Pro)
c.1168A>C (p.Thr390Pro)
1g.97515804G>ACA963281DPYDc.1662C>T (p.Ala554=)
c.1524+33756C>T (n.1524+33756C>T)
c.1551C>T (p.Ala517=)
c.1167C>T (p.Ala389=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515804G>CCA419142597DPYDc.1662C>G (p.Ala554=)
c.1524+33756C>G (n.1524+33756C>G)
c.1551C>G (p.Ala517=)
c.1167C>G (p.Ala389=)
dbSNP
1g.97515804G=CA1182902281DPYDc.1662C= (p.Ala554=)
c.1524+33756C= (n.1524+33756C=)
c.1551C= (p.Ala517=)
c.1167C= (p.Ala389=)
1g.97515804G>TCA419142599DPYDc.1662C>A (p.Ala554=)
c.1524+33756C>A (n.1524+33756C>A)
c.1551C>A (p.Ala517=)
c.1167C>A (p.Ala389=)
1g.97515805G>ACA341378316DPYDc.1661C>T (p.Ala554Val)
c.1524+33755C>T (n.1524+33755C>T)
c.1550C>T (p.Ala517Val)
c.1166C>T (p.Ala389Val)
dbSNP
1g.97515805G>CCA341378317DPYDc.1661C>G (p.Ala554Gly)
c.1524+33755C>G (n.1524+33755C>G)
c.1550C>G (p.Ala517Gly)
c.1166C>G (p.Ala389Gly)
dbSNP
1g.97515805G>TCA341378318DPYDc.1661C>A (p.Ala554Asp)
c.1524+33755C>A (n.1524+33755C>A)
c.1550C>A (p.Ala517Asp)
c.1166C>A (p.Ala389Asp)
dbSNP
1g.97515806C>ACA341378320DPYDc.1660G>T (p.Ala554Ser)
c.1524+33754G>T (n.1524+33754G>T)
c.1549G>T (p.Ala517Ser)
c.1165G>T (p.Ala389Ser)
dbSNP
1g.97515806C>GCA341378321DPYDc.1660G>C (p.Ala554Pro)
c.1524+33754G>C (n.1524+33754G>C)
c.1549G>C (p.Ala517Pro)
c.1165G>C (p.Ala389Pro)
dbSNP
1g.97515806C>TCA341378319DPYDc.1660G>A (p.Ala554Thr)
c.1524+33754G>A (n.1524+33754G>A)
c.1549G>A (p.Ala517Thr)
c.1165G>A (p.Ala389Thr)
dbSNP
1g.97515807T>ACA419142611DPYDc.1659A>T (p.Pro553=)
c.1524+33753A>T (n.1524+33753A>T)
c.1548A>T (p.Pro516=)
c.1164A>T (p.Pro388=)
1g.97515807T>CCA419142613DPYDc.1659A>G (p.Pro553=)
c.1524+33753A>G (n.1524+33753A>G)
c.1548A>G (p.Pro516=)
c.1164A>G (p.Pro388=)
dbSNP COSMIC
1g.97515807T>GCA419142615DPYDc.1659A>C (p.Pro553=)
c.1524+33753A>C (n.1524+33753A>C)
c.1548A>C (p.Pro516=)
c.1164A>C (p.Pro388=)
1g.97515808G>ACA963282DPYDc.1658C>T (p.Pro553Leu)
c.1524+33752C>T (n.1524+33752C>T)
c.1547C>T (p.Pro516Leu)
c.1163C>T (p.Pro388Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515808G>CCA341378322DPYDc.1658C>G (p.Pro553Arg)
c.1524+33752C>G (n.1524+33752C>G)
c.1547C>G (p.Pro516Arg)
c.1163C>G (p.Pro388Arg)
COSMIC
1g.97515808G=CA1148567850DPYDc.1658C= (p.Pro553=)
c.1524+33752C= (n.1524+33752C=)
c.1547C= (p.Pro516=)
c.1163C= (p.Pro388=)
1g.97515808G>TCA341378323DPYDc.1658C>A (p.Pro553Gln)
c.1524+33752C>A (n.1524+33752C>A)
c.1547C>A (p.Pro516Gln)
c.1163C>A (p.Pro388Gln)
1g.97515809G>ACA341378324DPYDc.1657C>T (p.Pro553Ser)
c.1524+33751C>T (n.1524+33751C>T)
c.1546C>T (p.Pro516Ser)
c.1162C>T (p.Pro388Ser)
dbSNP
1g.97515809G>CCA341378325DPYDc.1657C>G (p.Pro553Ala)
c.1524+33751C>G (n.1524+33751C>G)
c.1546C>G (p.Pro516Ala)
c.1162C>G (p.Pro388Ala)
dbSNP gnomAD v4 COSMIC
1g.97515809G>TCA341378326DPYDc.1657C>A (p.Pro553Thr)
c.1524+33751C>A (n.1524+33751C>A)
c.1546C>A (p.Pro516Thr)
c.1162C>A (p.Pro388Thr)
1g.97515809_97515810insCACA2646705843DPYDc.1656_1657insTG (p.Pro553CysfsTer8)
c.1524+33750_1524+33751insTG (n.1524+33750_1524+33751insTG)
c.1545_1546insTG (p.Pro516CysfsTer8)
c.1161_1162insTG (p.Pro388CysfsTer8)
gnomAD v4
1g.97515810delCA2646705844DPYDc.1656del (p.Pro553GlnfsTer7)
c.1524+33750del (n.1524+33750del)
c.1545del (p.Pro516GlnfsTer7)
c.1161del (p.Pro388GlnfsTer7)
gnomAD v4
1g.97515810A=CA1182902282DPYDc.1656T= (p.Thr552=)
c.1524+33750T= (n.1524+33750T=)
c.1545T= (p.Thr515=)
c.1161T= (p.Thr387=)
1g.97515810A>CCA419142627DPYDc.1656T>G (p.Thr552=)
c.1524+33750T>G (n.1524+33750T>G)
c.1545T>G (p.Thr515=)
c.1161T>G (p.Thr387=)
1g.97515810A>GCA419142629DPYDc.1656T>C (p.Thr552=)
c.1524+33750T>C (n.1524+33750T>C)
c.1545T>C (p.Thr515=)
c.1161T>C (p.Thr387=)
dbSNP
1g.97515810A>TCA419142631DPYDc.1656T>A (p.Thr552=)
c.1524+33750T>A (n.1524+33750T>A)
c.1545T>A (p.Thr515=)
c.1161T>A (p.Thr387=)
dbSNP gnomAD v2 gnomAD v4
1g.97515811G>ACA341378329DPYDc.1655C>T (p.Thr552Ile)
c.1524+33749C>T (n.1524+33749C>T)
c.1544C>T (p.Thr515Ile)
c.1160C>T (p.Thr387Ile)
dbSNP
1g.97515811G>CCA341378327DPYDc.1655C>G (p.Thr552Ser)
c.1524+33749C>G (n.1524+33749C>G)
c.1544C>G (p.Thr515Ser)
c.1160C>G (p.Thr387Ser)
dbSNP
1g.97515811G>TCA341378328DPYDc.1655C>A (p.Thr552Asn)
c.1524+33749C>A (n.1524+33749C>A)
c.1544C>A (p.Thr515Asn)
c.1160C>A (p.Thr387Asn)
1g.97515812T>ACA341378330DPYDc.1654A>T (p.Thr552Ser)
c.1524+33748A>T (n.1524+33748A>T)
c.1543A>T (p.Thr515Ser)
c.1159A>T (p.Thr387Ser)
dbSNP
1g.97515812T>CCA963283DPYDc.1654A>G (p.Thr552Ala)
c.1524+33748A>G (n.1524+33748A>G)
c.1543A>G (p.Thr515Ala)
c.1159A>G (p.Thr387Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515812T>GCA341378331DPYDc.1654A>C (p.Thr552Pro)
c.1524+33748A>C (n.1524+33748A>C)
c.1543A>C (p.Thr515Pro)
c.1159A>C (p.Thr387Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97515812T=CA1182902283DPYDc.1654A= (p.Thr552=)
c.1524+33748A= (n.1524+33748A=)
c.1543A= (p.Thr515=)
c.1159A= (p.Thr387=)
1g.97515813T>ACA419142642DPYDc.1653A>T (p.Ala551=)
c.1524+33747A>T (n.1524+33747A>T)
c.1542A>T (p.Ala514=)
c.1158A>T (p.Ala386=)
1g.97515813T>CCA419142644DPYDc.1653A>G (p.Ala551=)
c.1524+33747A>G (n.1524+33747A>G)
c.1542A>G (p.Ala514=)
c.1158A>G (p.Ala386=)
1g.97515813T>GCA419142646DPYDc.1653A>C (p.Ala551=)
c.1524+33747A>C (n.1524+33747A>C)
c.1542A>C (p.Ala514=)
c.1158A>C (p.Ala386=)
1g.97515814G>ACA341378332DPYDc.1652C>T (p.Ala551Val)
c.1524+33746C>T (n.1524+33746C>T)
c.1541C>T (p.Ala514Val)
c.1157C>T (p.Ala386Val)
dbSNP gnomAD v2 gnomAD v4
1g.97515814G>CCA341378333DPYDc.1652C>G (p.Ala551Gly)
c.1524+33746C>G (n.1524+33746C>G)
c.1541C>G (p.Ala514Gly)
c.1157C>G (p.Ala386Gly)
dbSNP
1g.97515814G=CA1182902284DPYDc.1652C= (p.Ala551=)
c.1524+33746C= (n.1524+33746C=)
c.1541C= (p.Ala514=)
c.1157C= (p.Ala386=)
1g.97515814G>TCA341378334DPYDc.1652C>A (p.Ala551Glu)
c.1524+33746C>A (n.1524+33746C>A)
c.1541C>A (p.Ala514Glu)
c.1157C>A (p.Ala386Glu)
1g.97515815C>ACA963285DPYDc.1651G>T (p.Ala551Ser)
c.1524+33745G>T (n.1524+33745G>T)
c.1540G>T (p.Ala514Ser)
c.1156G>T (p.Ala386Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515815C=CA1182902285DPYDc.1651G= (p.Ala551=)
c.1524+33745G= (n.1524+33745G=)
c.1540G= (p.Ala514=)
c.1156G= (p.Ala386=)
1g.97515815C>GCA341378335DPYDc.1651G>C (p.Ala551Pro)
c.1524+33745G>C (n.1524+33745G>C)
c.1540G>C (p.Ala514Pro)
c.1156G>C (p.Ala386Pro)
dbSNP
1g.97515815C>TCA963284DPYDc.1651G>A (p.Ala551Thr)
c.1524+33745G>A (n.1524+33745G>A)
c.1540G>A (p.Ala514Thr)
c.1156G>A (p.Ala386Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.97515816G>ACA963286DPYDc.1650C>T (p.Ser550=)
c.1524+33744C>T (n.1524+33744C>T)
c.1539C>T (p.Ser513=)
c.1155C>T (p.Ser385=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515816G>CCA341378336DPYDc.1650C>G (p.Ser550Arg)
c.1524+33744C>G (n.1524+33744C>G)
c.1539C>G (p.Ser513Arg)
c.1155C>G (p.Ser385Arg)
dbSNP gnomAD v4
1g.97515816G=CA1142281843DPYDc.1650C= (p.Ser550=)
c.1524+33744C= (n.1524+33744C=)
c.1539C= (p.Ser513=)
c.1155C= (p.Ser385=)
1g.97515816G>TCA341378337DPYDc.1650C>A (p.Ser550Arg)
c.1524+33744C>A (n.1524+33744C>A)
c.1539C>A (p.Ser513Arg)
c.1155C>A (p.Ser385Arg)
dbSNP gnomAD v2
1g.97515817C>ACA341378338DPYDc.1649G>T (p.Ser550Ile)
c.1524+33743G>T (n.1524+33743G>T)
c.1538G>T (p.Ser513Ile)
c.1154G>T (p.Ser385Ile)
dbSNP
1g.97515817C=CA1182902286DPYDc.1649G= (p.Ser550=)
c.1524+33743G= (n.1524+33743G=)
c.1538G= (p.Ser513=)
c.1154G= (p.Ser385=)
1g.97515817C>GCA341378340DPYDc.1649G>C (p.Ser550Thr)
c.1524+33743G>C (n.1524+33743G>C)
c.1538G>C (p.Ser513Thr)
c.1154G>C (p.Ser385Thr)
dbSNP
1g.97515817C>TCA341378339DPYDc.1649G>A (p.Ser550Asn)
c.1524+33743G>A (n.1524+33743G>A)
c.1538G>A (p.Ser513Asn)
c.1154G>A (p.Ser385Asn)
1g.97515818T>ACA341378341DPYDc.1648A>T (p.Ser550Cys)
c.1524+33742A>T (n.1524+33742A>T)
c.1537A>T (p.Ser513Cys)
c.1153A>T (p.Ser385Cys)
dbSNP
1g.97515818T>CCA341378342DPYDc.1648A>G (p.Ser550Gly)
c.1524+33742A>G (n.1524+33742A>G)
c.1537A>G (p.Ser513Gly)
c.1153A>G (p.Ser385Gly)
1g.97515818T>GCA341378343DPYDc.1648A>C (p.Ser550Arg)
c.1524+33742A>C (n.1524+33742A>C)
c.1537A>C (p.Ser513Arg)
c.1153A>C (p.Ser385Arg)
1g.97515819A>CCA419142672DPYDc.1647T>G (p.Ala549=)
c.1524+33741T>G (n.1524+33741T>G)
c.1536T>G (p.Ala512=)
c.1152T>G (p.Ala384=)
1g.97515819A>GCA419142674DPYDc.1647T>C (p.Ala549=)
c.1524+33741T>C (n.1524+33741T>C)
c.1536T>C (p.Ala512=)
c.1152T>C (p.Ala384=)
gnomAD v4
1g.97515819A>TCA419142675DPYDc.1647T>A (p.Ala549=)
c.1524+33741T>A (n.1524+33741T>A)
c.1536T>A (p.Ala512=)
c.1152T>A (p.Ala384=)
1g.97515820G>ACA341378344DPYDc.1646C>T (p.Ala549Val)
c.1524+33740C>T (n.1524+33740C>T)
c.1535C>T (p.Ala512Val)
c.1151C>T (p.Ala384Val)
dbSNP
1g.97515820G>CCA341378345DPYDc.1646C>G (p.Ala549Gly)
c.1524+33740C>G (n.1524+33740C>G)
c.1535C>G (p.Ala512Gly)
c.1151C>G (p.Ala384Gly)
dbSNP gnomAD v2 gnomAD v4
1g.97515820G=CA1182902287DPYDc.1646C= (p.Ala549=)
c.1524+33740C= (n.1524+33740C=)
c.1535C= (p.Ala512=)
c.1151C= (p.Ala384=)
1g.97515820G>TCA341378346DPYDc.1646C>A (p.Ala549Asp)
c.1524+33740C>A (n.1524+33740C>A)
c.1535C>A (p.Ala512Asp)
c.1151C>A (p.Ala384Asp)
1g.97515821C>ACA341378347DPYDc.1645G>T (p.Ala549Ser)
c.1524+33739G>T (n.1524+33739G>T)
c.1534G>T (p.Ala512Ser)
c.1150G>T (p.Ala384Ser)
1g.97515821C=CA1141717946DPYDc.1645G= (p.Ala549=)
c.1524+33739G= (n.1524+33739G=)
c.1534G= (p.Ala512=)
c.1150G= (p.Ala384=)
1g.97515821C>GCA963287DPYDc.1645G>C (p.Ala549Pro)
c.1524+33739G>C (n.1524+33739G>C)
c.1534G>C (p.Ala512Pro)
c.1150G>C (p.Ala384Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515821C>TCA341378348DPYDc.1645G>A (p.Ala549Thr)
c.1524+33739G>A (n.1524+33739G>A)
c.1534G>A (p.Ala512Thr)
c.1150G>A (p.Ala384Thr)
1g.97515822A>CCA419142691DPYDc.1644T>G (p.Leu548=)
c.1524+33738T>G (n.1524+33738T>G)
c.1533T>G (p.Leu511=)
c.1149T>G (p.Leu383=)
1g.97515822A>GCA419142688DPYDc.1644T>C (p.Leu548=)
c.1524+33738T>C (n.1524+33738T>C)
c.1533T>C (p.Leu511=)
c.1149T>C (p.Leu383=)
1g.97515822A>TCA419142689DPYDc.1644T>A (p.Leu548=)
c.1524+33738T>A (n.1524+33738T>A)
c.1533T>A (p.Leu511=)
c.1149T>A (p.Leu383=)
1g.97515823A=CA1182902288DPYDc.1643T= (p.Leu548=)
c.1524+33737T= (n.1524+33737T=)
c.1532T= (p.Leu511=)
c.1148T= (p.Leu383=)
1g.97515823A>CCA341378349DPYDc.1643T>G (p.Leu548Arg)
c.1524+33737T>G (n.1524+33737T>G)
c.1532T>G (p.Leu511Arg)
c.1148T>G (p.Leu383Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97515823A>GCA341378350DPYDc.1643T>C (p.Leu548Pro)
c.1524+33737T>C (n.1524+33737T>C)
c.1532T>C (p.Leu511Pro)
c.1148T>C (p.Leu383Pro)
1g.97515823A>TCA341378351DPYDc.1643T>A (p.Leu548His)
c.1524+33737T>A (n.1524+33737T>A)
c.1532T>A (p.Leu511His)
c.1148T>A (p.Leu383His)
1g.97515824G>ACA341378354DPYDc.1642C>T (p.Leu548Phe)
c.1524+33736C>T (n.1524+33736C>T)
c.1531C>T (p.Leu511Phe)
c.1147C>T (p.Leu383Phe)
dbSNP
1g.97515824G>CCA341378352DPYDc.1642C>G (p.Leu548Val)
c.1524+33736C>G (n.1524+33736C>G)
c.1531C>G (p.Leu511Val)
c.1147C>G (p.Leu383Val)
dbSNP
1g.97515824G>TCA341378353DPYDc.1642C>A (p.Leu548Ile)
c.1524+33736C>A (n.1524+33736C>A)
c.1531C>A (p.Leu511Ile)
c.1147C>A (p.Leu383Ile)
1g.97515825A>CCA419142702DPYDc.1641T>G (p.Gly547=)
c.1524+33735T>G (n.1524+33735T>G)
c.1530T>G (p.Gly510=)
c.1146T>G (p.Gly382=)
1g.97515825A>GCA419142704DPYDc.1641T>C (p.Gly547=)
c.1524+33735T>C (n.1524+33735T>C)
c.1530T>C (p.Gly510=)
c.1146T>C (p.Gly382=)
1g.97515825A>TCA419142706DPYDc.1641T>A (p.Gly547=)
c.1524+33735T>A (n.1524+33735T>A)
c.1530T>A (p.Gly510=)
c.1146T>A (p.Gly382=)
1g.97515826C>ACA341378355DPYDc.1640G>T (p.Gly547Val)
c.1524+33734G>T (n.1524+33734G>T)
c.1529G>T (p.Gly510Val)
c.1145G>T (p.Gly382Val)
dbSNP gnomAD v2 gnomAD v4
1g.97515826C=CA1182902289DPYDc.1640G= (p.Gly547=)
c.1524+33734G= (n.1524+33734G=)
c.1529G= (p.Gly510=)
c.1145G= (p.Gly382=)
1g.97515826C>GCA341378356DPYDc.1640G>C (p.Gly547Ala)
c.1524+33734G>C (n.1524+33734G>C)
c.1529G>C (p.Gly510Ala)
c.1145G>C (p.Gly382Ala)
dbSNP
1g.97515826C>TCA341378357DPYDc.1640G>A (p.Gly547Asp)
c.1524+33734G>A (n.1524+33734G>A)
c.1529G>A (p.Gly510Asp)
c.1145G>A (p.Gly382Asp)
dbSNP COSMIC
1g.97515827C>ACA341378358DPYDc.1639G>T (p.Gly547Cys)
c.1524+33733G>T (n.1524+33733G>T)
c.1528G>T (p.Gly510Cys)
c.1144G>T (p.Gly382Cys)
1g.97515827C>GCA341378359DPYDc.1639G>C (p.Gly547Arg)
c.1524+33733G>C (n.1524+33733G>C)
c.1528G>C (p.Gly510Arg)
c.1144G>C (p.Gly382Arg)
1g.97515827C>TCA341378360DPYDc.1639G>A (p.Gly547Ser)
c.1524+33733G>A (n.1524+33733G>A)
c.1528G>A (p.Gly510Ser)
c.1144G>A (p.Gly382Ser)
1g.97515828A>CCA341378361DPYDc.1638T>G (p.Phe546Leu)
c.1524+33732T>G (n.1524+33732T>G)
c.1527T>G (p.Phe509Leu)
c.1143T>G (p.Phe381Leu)
dbSNP
1g.97515828A>GCA419142717DPYDc.1638T>C (p.Phe546=)
c.1524+33732T>C (n.1524+33732T>C)
c.1527T>C (p.Phe509=)
c.1143T>C (p.Phe381=)
1g.97515828A>TCA341378362DPYDc.1638T>A (p.Phe546Leu)
c.1524+33732T>A (n.1524+33732T>A)
c.1527T>A (p.Phe509Leu)
c.1143T>A (p.Phe381Leu)
dbSNP
1g.97515829A=CA1182902290DPYDc.1637T= (p.Phe546=)
c.1524+33731T= (n.1524+33731T=)
c.1526T= (p.Phe509=)
c.1142T= (p.Phe381=)
1g.97515829A>CCA341378363DPYDc.1637T>G (p.Phe546Cys)
c.1524+33731T>G (n.1524+33731T>G)
c.1526T>G (p.Phe509Cys)
c.1142T>G (p.Phe381Cys)
1g.97515829A>GCA341378364DPYDc.1637T>C (p.Phe546Ser)
c.1524+33731T>C (n.1524+33731T>C)
c.1526T>C (p.Phe509Ser)
c.1142T>C (p.Phe381Ser)
dbSNP gnomAD v4
1g.97515829A>TCA341378365DPYDc.1637T>A (p.Phe546Tyr)
c.1524+33731T>A (n.1524+33731T>A)
c.1526T>A (p.Phe509Tyr)
c.1142T>A (p.Phe381Tyr)
1g.97515830A>CCA341378368DPYDc.1636T>G (p.Phe546Val)
c.1524+33730T>G (n.1524+33730T>G)
c.1525T>G (p.Phe509Val)
c.1141T>G (p.Phe381Val)
gnomAD v4
1g.97515830A>GCA341378367DPYDc.1636T>C (p.Phe546Leu)
c.1524+33730T>C (n.1524+33730T>C)
c.1525T>C (p.Phe509Leu)
c.1141T>C (p.Phe381Leu)
1g.97515830A>TCA341378366DPYDc.1636T>A (p.Phe546Ile)
c.1524+33730T>A (n.1524+33730T>A)
c.1525T>A (p.Phe509Ile)
c.1141T>A (p.Phe381Ile)
1g.97515831A=CA1182902291DPYDc.1635T= (p.Pro545=)
c.1524+33729T= (n.1524+33729T=)
c.1524T= (p.Pro508=)
c.1140T= (p.Pro380=)
1g.97515831A>CCA419142729DPYDc.1635T>G (p.Pro545=)
c.1524+33729T>G (n.1524+33729T>G)
c.1524T>G (p.Pro508=)
c.1140T>G (p.Pro380=)
1g.97515831A>GCA963288DPYDc.1635T>C (p.Pro545=)
c.1524+33729T>C (n.1524+33729T>C)
c.1524T>C (p.Pro508=)
c.1140T>C (p.Pro380=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515831A>TCA419142732DPYDc.1635T>A (p.Pro545=)
c.1524+33729T>A (n.1524+33729T>A)
c.1524T>A (p.Pro508=)
c.1140T>A (p.Pro380=)
1g.97515832G>ACA341378369DPYDc.1634C>T (p.Pro545Leu)
c.1524+33728C>T (n.1524+33728C>T)
c.1523C>T (p.Pro508Leu)
c.1139C>T (p.Pro380Leu)
dbSNP gnomAD v4 COSMIC
1g.97515832G>CCA341378370DPYDc.1634C>G (p.Pro545Arg)
c.1524+33728C>G (n.1524+33728C>G)
c.1523C>G (p.Pro508Arg)
c.1139C>G (p.Pro380Arg)
dbSNP
1g.97515832G>TCA341378371DPYDc.1634C>A (p.Pro545His)
c.1524+33728C>A (n.1524+33728C>A)
c.1523C>A (p.Pro508His)
c.1139C>A (p.Pro380His)
1g.97515832_97515833delinsAACA645518034DPYDc.1633_1634delinsTT (p.Pro545Phe)
c.1524+33727_1524+33728delinsTT (n.1524+33727_1524+33728delinsTT)
c.1522_1523delinsTT (p.Pro508Phe)
c.1138_1139delinsTT (p.Pro380Phe)
COSMIC
1g.97515833G>ACA341378372DPYDc.1633C>T (p.Pro545Ser)
c.1524+33727C>T (n.1524+33727C>T)
c.1522C>T (p.Pro508Ser)
c.1138C>T (p.Pro380Ser)
dbSNP COSMIC
1g.97515833G>CCA341378373DPYDc.1633C>G (p.Pro545Ala)
c.1524+33727C>G (n.1524+33727C>G)
c.1522C>G (p.Pro508Ala)
c.1138C>G (p.Pro380Ala)
dbSNP gnomAD v4
1g.97515833G>TCA341378374DPYDc.1633C>A (p.Pro545Thr)
c.1524+33727C>A (n.1524+33727C>A)
c.1522C>A (p.Pro508Thr)
c.1138C>A (p.Pro380Thr)
1g.97515834A>CCA341378375DPYDc.1632T>G (p.Asn544Lys)
c.1524+33726T>G (n.1524+33726T>G)
c.1521T>G (p.Asn507Lys)
c.1137T>G (p.Asn379Lys)
1g.97515834A>GCA419142744DPYDc.1632T>C (p.Asn544=)
c.1524+33726T>C (n.1524+33726T>C)
c.1521T>C (p.Asn507=)
c.1137T>C (p.Asn379=)
1g.97515834A>TCA341378376DPYDc.1632T>A (p.Asn544Lys)
c.1524+33726T>A (n.1524+33726T>A)
c.1521T>A (p.Asn507Lys)
c.1137T>A (p.Asn379Lys)
gnomAD v4
1g.97515835T>ACA341378377DPYDc.1631A>T (p.Asn544Ile)
c.1524+33725A>T (n.1524+33725A>T)
c.1520A>T (p.Asn507Ile)
c.1136A>T (p.Asn379Ile)
dbSNP
1g.97515835T>CCA341378378DPYDc.1631A>G (p.Asn544Ser)
c.1524+33725A>G (n.1524+33725A>G)
c.1520A>G (p.Asn507Ser)
c.1136A>G (p.Asn379Ser)
1g.97515835T>GCA341378379DPYDc.1631A>C (p.Asn544Thr)
c.1524+33725A>C (n.1524+33725A>C)
c.1520A>C (p.Asn507Thr)
c.1136A>C (p.Asn379Thr)
dbSNP
1g.97515836T>ACA341378382DPYDc.1630A>T (p.Asn544Tyr)
c.1524+33724A>T (n.1524+33724A>T)
c.1519A>T (p.Asn507Tyr)
c.1135A>T (p.Asn379Tyr)
dbSNP
1g.97515836T>CCA341378381DPYDc.1630A>G (p.Asn544Asp)
c.1524+33724A>G (n.1524+33724A>G)
c.1519A>G (p.Asn507Asp)
c.1135A>G (p.Asn379Asp)
1g.97515836T>GCA341378380DPYDc.1630A>C (p.Asn544His)
c.1524+33724A>C (n.1524+33724A>C)
c.1519A>C (p.Asn507His)
c.1135A>C (p.Asn379His)
gnomAD v4
1g.97515837T>ACA419142757DPYDc.1629A>T (p.Ile543=)
c.1524+33723A>T (n.1524+33723A>T)
c.1518A>T (p.Ile506=)
c.1134A>T (p.Ile378=)
1g.97515837T>CCA341378383DPYDc.1629A>G (p.Ile543Met)
c.1524+33723A>G (n.1524+33723A>G)
c.1518A>G (p.Ile506Met)
c.1134A>G (p.Ile378Met)
1g.97515837T>GCA419142761DPYDc.1629A>C (p.Ile543=)
c.1524+33723A>C (n.1524+33723A>C)
c.1518A>C (p.Ile506=)
c.1134A>C (p.Ile378=)
1g.97515838A>CCA341378384DPYDc.1628T>G (p.Ile543Arg)
c.1524+33722T>G (n.1524+33722T>G)
c.1517T>G (p.Ile506Arg)
c.1133T>G (p.Ile378Arg)
1g.97515838A>GCA341378385DPYDc.1628T>C (p.Ile543Thr)
c.1524+33722T>C (n.1524+33722T>C)
c.1517T>C (p.Ile506Thr)
c.1133T>C (p.Ile378Thr)
gnomAD v4
1g.97515838A>TCA341378386DPYDc.1628T>A (p.Ile543Lys)
c.1524+33722T>A (n.1524+33722T>A)
c.1517T>A (p.Ile506Lys)
c.1133T>A (p.Ile378Lys)
1g.97515839T>ACA341378387DPYDc.1627A>T (p.Ile543Leu)
c.1524+33721A>T (n.1524+33721A>T)
c.1516A>T (p.Ile506Leu)
c.1132A>T (p.Ile378Leu)
dbSNP
1g.97515839T>CCA200992DPYDc.1627A>G (p.Ile543Val)
c.1524+33721A>G (n.1524+33721A>G)
c.1516A>G (p.Ile506Val)
c.1132A>G (p.Ile378Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515839T>GCA341378388DPYDc.1627A>C (p.Ile543Leu)
c.1524+33721A>C (n.1524+33721A>C)
c.1516A>C (p.Ile506Leu)
c.1132A>C (p.Ile378Leu)
dbSNP
1g.97515839T=CA1139894835DPYDc.1627A= (p.Ile543=)
c.1524+33721A= (n.1524+33721A=)
c.1516A= (p.Ile506=)
c.1132A= (p.Ile378=)

Number of alleles fetched