Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.137236187_137236496delCA2573144328SLC34A3c.1571_*80del (n.[c.1571_*80del;Leu524GlnfsTer14])
ClinVar dbSNP
9g.137236202T>ACA375741131SLC34A3c.1586T>A (p.Ile529Asn)
9g.137236202T>CCA375741133SLC34A3c.1586T>C (p.Ile529Thr)
gnomAD v4
9g.137236202T>GCA375741132SLC34A3c.1586T>G (p.Ile529Ser)
9g.137236203C>ACA467942702SLC34A3c.1587C>A (p.Ile529=)
9g.137236203C>GCA375741136SLC34A3c.1587C>G (p.Ile529Met)
9g.137236203C>TCA467942703SLC34A3c.1587C>T (p.Ile529=)
gnomAD v4
9g.137236204C>ACA375741138SLC34A3c.1588C>A (p.Leu530Met)
gnomAD v4
9g.137236204C>GCA375741139SLC34A3c.1588C>G (p.Leu530Val)
9g.137236204C>TCA467942705SLC34A3c.1588C>T (p.Leu530=)
9g.137236205T>ACA375741140SLC34A3c.1589T>A (p.Leu530Gln)
9g.137236205T>CCA375741141SLC34A3c.1589T>C (p.Leu530Pro)
gnomAD v4
9g.137236205T>GCA375741142SLC34A3c.1589T>G (p.Leu530Arg)
9g.137236206G>ACA467942710SLC34A3c.1590G>A (p.Leu530=)
dbSNP gnomAD v4
9g.137236206G>CCA467942712SLC34A3c.1590G>C (p.Leu530=)
9g.137236206G=CA1884372256SLC34A3c.1590G= (p.Leu530=)
9g.137236206G>TCA467942711SLC34A3c.1590G>T (p.Leu530=)
gnomAD v4
9g.137236207G>ACA375741143SLC34A3c.1591G>A (p.Val531Ile)
dbSNP gnomAD v3 gnomAD v4
9g.137236207G>CCA375741144SLC34A3c.1591G>C (p.Val531Leu)
9g.137236207G=CA1884372257SLC34A3c.1591G= (p.Val531=)
9g.137236207G>TCA375741146SLC34A3c.1591G>T (p.Val531Phe)
gnomAD v4
9g.137236208T>ACA375741148SLC34A3c.1592T>A (p.Val531Asp)
9g.137236208T>CCA375741150SLC34A3c.1592T>C (p.Val531Ala)
dbSNP
9g.137236208T>GCA375741152SLC34A3c.1592T>G (p.Val531Gly)
9g.137236208T=CA1884372258SLC34A3c.1592T= (p.Val531=)
9g.137236209T>ACA467942265SLC34A3c.1593T>A (p.Val531=)
9g.137236209T>CCA467942264SLC34A3c.1593T>C (p.Val531=)
dbSNP gnomAD v4
9g.137236209T>GCA467942262SLC34A3c.1593T>G (p.Val531=)
9g.137236209T=CA1884372259SLC34A3c.1593T= (p.Val531=)
9g.137236210A=CA1884372260SLC34A3c.1594A= (p.Thr532=)
9g.137236210A>CCA375741154SLC34A3c.1594A>C (p.Thr532Pro)
9g.137236210A>GCA375741161SLC34A3c.1594A>G (p.Thr532Ala)
9g.137236210A>TCA375741156SLC34A3c.1594A>T (p.Thr532Ser)
9g.137236211C>ACA375741162SLC34A3c.1595C>A (p.Thr532Asn)
gnomAD v4
9g.137236211C>GCA375741165SLC34A3c.1595C>G (p.Thr532Ser)
gnomAD v4
9g.137236211C>TCA375741167SLC34A3c.1595C>T (p.Thr532Ile)
9g.137236217_137236249dupCA891862919SLC34A3c.1601_1633dup (p.Val544_Arg545insLeuGlnArgArgArgProAlaTrpLeuProVal)
ClinVar dbSNP
9g.137236212T>ACA467942273SLC34A3c.1596T>A (p.Thr532=)
9g.137236212T>CCA5365005SLC34A3c.1596T>C (p.Thr532=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236212T>GCA467942274SLC34A3c.1596T>G (p.Thr532=)
9g.137236212T=CA1884372261SLC34A3c.1596T= (p.Thr532=)
9g.137236213G>ACA375741169SLC34A3c.1597G>A (p.Val533Ile)
dbSNP gnomAD v4
9g.137236213G>CCA375741170SLC34A3c.1597G>C (p.Val533Leu)
gnomAD v4
9g.137236213G=CA1884372262SLC34A3c.1597G= (p.Val533=)
9g.137236213G>TCA375741172SLC34A3c.1597G>T (p.Val533Phe)
gnomAD v4
9g.137236214T>ACA375741173SLC34A3c.1598T>A (p.Val533Asp)
9g.137236214T>CCA375741185SLC34A3c.1598T>C (p.Val533Ala)
9g.137236214T>GCA375741176SLC34A3c.1598T>G (p.Val533Gly)
9g.137236215C>ACA467942279SLC34A3c.1599C>A (p.Val533=)
dbSNP gnomAD v4
9g.137236215C=CA1884372263SLC34A3c.1599C= (p.Val533=)
9g.137236215C>GCA467942280SLC34A3c.1599C>G (p.Val533=)
9g.137236215C>TCA5365006SLC34A3c.1599C>T (p.Val533=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236216C>ACA375741193SLC34A3c.1600C>A (p.Leu534Met)
gnomAD v4
9g.137236216C=CA1884372264SLC34A3c.1600C= (p.Leu534=)
9g.137236216C>GCA375741195SLC34A3c.1600C>G (p.Leu534Val)
9g.137236216C>TCA5365007SLC34A3c.1600C>T (p.Leu534=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236217T>ACA375741200SLC34A3c.1601T>A (p.Leu534Gln)
9g.137236217T>CCA375741209SLC34A3c.1601T>C (p.Leu534Pro)
dbSNP gnomAD v4
9g.137236217T>GCA375741203SLC34A3c.1601T>G (p.Leu534Arg)
9g.137236217T=CA1884372265SLC34A3c.1601T= (p.Leu534=)
9g.137236218G>ACA467942285SLC34A3c.1602G>A (p.Leu534=)
gnomAD v4
9g.137236218G>CCA467942286SLC34A3c.1602G>C (p.Leu534=)
9g.137236218G>TCA467942287SLC34A3c.1602G>T (p.Leu534=)
gnomAD v4
9g.137236219C>ACA375741211SLC34A3c.1603C>A (p.Gln535Lys)
gnomAD v4
9g.137236219C=CA1884372266SLC34A3c.1603C= (p.Gln535=)
9g.137236219C>GCA375741215SLC34A3c.1603C>G (p.Gln535Glu)
9g.137236219C>TCA375741217SLC34A3c.1603C>T (p.Gln535Ter)
dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.137236220A>CCA375741221SLC34A3c.1604A>C (p.Gln535Pro)
9g.137236220A>GCA375741224SLC34A3c.1604A>G (p.Gln535Arg)
9g.137236220A>TCA375741226SLC34A3c.1604A>T (p.Gln535Leu)
gnomAD v4
9g.137236221G>ACA467942293SLC34A3c.1605G>A (p.Gln535=)
dbSNP
9g.137236221G>CCA375741231SLC34A3c.1605G>C (p.Gln535His)
9g.137236221G=CA1884372267SLC34A3c.1605G= (p.Gln535=)
9g.137236221G>TCA375741235SLC34A3c.1605G>T (p.Gln535His)
gnomAD v4
9g.137236221_137236222insTTACACACATTAACGCTGTTGCAGGCGTGCAGGTCGGTGGTACACACA591374007SLC34A3c.1605_1606insTTACACACATTAACGCTGTTGCAGGCGTGCAGGTCGGTGGTACACA (p.Arg536LeufsTer?)
dbSNP gnomAD v2 gnomAD v4
9g.137236222C>ACA467942297SLC34A3c.1606C>A (p.Arg536=)
gnomAD v4
9g.137236222C=CA1884372268SLC34A3c.1606C= (p.Arg536=)
9g.137236222C>GCA375741240SLC34A3c.1606C>G (p.Arg536Gly)
dbSNP gnomAD v4
9g.137236222C>TCA5365008SLC34A3c.1606C>T (p.Arg536Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236223G>ACA5365009SLC34A3c.1607G>A (p.Arg536Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236223G>CCA375741251SLC34A3c.1607G>C (p.Arg536Pro)
9g.137236223G=CA1884372269SLC34A3c.1607G= (p.Arg536=)
9g.137236223G>TCA375741247SLC34A3c.1607G>T (p.Arg536Leu)
gnomAD v4
9g.137236224G>ACA5365010SLC34A3c.1608G>A (p.Arg536=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236224G>CCA467942302SLC34A3c.1608G>C (p.Arg536=)
9g.137236224G=CA1884372270SLC34A3c.1608G= (p.Arg536=)
9g.137236224G>TCA467942303SLC34A3c.1608G>T (p.Arg536=)
9g.137236225C>ACA375741258SLC34A3c.1609C>A (p.Arg537Ser)
gnomAD v4
9g.137236225C=CA1884372271SLC34A3c.1609C= (p.Arg537=)
9g.137236225C>GCA375741262SLC34A3c.1609C>G (p.Arg537Gly)
9g.137236225C>TCA5365011SLC34A3c.1609C>T (p.Arg537Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236226G>ACA5365012SLC34A3c.1610G>A (p.Arg537His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236226G>CCA375741271SLC34A3c.1610G>C (p.Arg537Pro)
9g.137236226G=CA1884372272SLC34A3c.1610G= (p.Arg537=)
9g.137236226G>TCA375741273SLC34A3c.1610G>T (p.Arg537Leu)
gnomAD v4
9g.137236233_137236236dupCA2579530753SLC34A3c.1617_1620dup (p.Trp541GlyfsTer?)
9g.137236233_137236236delCA2692818234SLC34A3c.1617_1620del (p.Ala540GlyfsTer26)
gnomAD v4
9g.137236227C>ACA467942306SLC34A3c.1611C>A (p.Arg537=)
gnomAD v4
9g.137236227C>GCA467942308SLC34A3c.1611C>G (p.Arg537=)
9g.137236227C>TCA467942307SLC34A3c.1611C>T (p.Arg537=)
9g.137236228C>ACA467942311SLC34A3c.1612C>A (p.Arg538=)
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.137236228C=CA1884372273SLC34A3c.1612C= (p.Arg538=)
9g.137236228C>GCA375741281SLC34A3c.1612C>G (p.Arg538Gly)
9g.137236228C>TCA5365013SLC34A3c.1612C>T (p.Arg538Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236229G>ACA5365014SLC34A3c.1613G>A (p.Arg538Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236229G>CCA375741287SLC34A3c.1613G>C (p.Arg538Pro)
9g.137236229G=CA1884372274SLC34A3c.1613G= (p.Arg538=)
9g.137236229G>TCA375741289SLC34A3c.1613G>T (p.Arg538Leu)
gnomAD v4
9g.137236230G>ACA467942317SLC34A3c.1614G>A (p.Arg538=)
gnomAD v4
9g.137236230G>CCA467942318SLC34A3c.1614G>C (p.Arg538=)
9g.137236230G>TCA467942319SLC34A3c.1614G>T (p.Arg538=)
gnomAD v4
9g.137236231C>ACA375741293SLC34A3c.1615C>A (p.Pro539Thr)
gnomAD v4
9g.137236231C>GCA375741296SLC34A3c.1615C>G (p.Pro539Ala)
9g.137236231C>TCA375741298SLC34A3c.1615C>T (p.Pro539Ser)
gnomAD v4
9g.137236232C>ACA375741302SLC34A3c.1616C>A (p.Pro539Gln)
9g.137236232C=CA1884372275SLC34A3c.1616C= (p.Pro539=)
9g.137236232C>GCA201700167SLC34A3c.1616C>G (p.Pro539Arg)
dbSNP
9g.137236232C>TCA5365015SLC34A3c.1616C>T (p.Pro539Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236233_137236235delCA2692818235SLC34A3c.1617_1619del (p.Ala540del)
gnomAD v4
9g.137236233G>ACA5365016SLC34A3c.1617G>A (p.Pro539=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236233G>CCA467942323SLC34A3c.1617G>C (p.Pro539=)
gnomAD v4
9g.137236233G=CA1884372276SLC34A3c.1617G= (p.Pro539=)
9g.137236233G>TCA467942324SLC34A3c.1617G>T (p.Pro539=)
gnomAD v4
9g.137236234G>ACA375741314SLC34A3c.1618G>A (p.Ala540Thr)
gnomAD v4
9g.137236234G>CCA375741317SLC34A3c.1618G>C (p.Ala540Pro)
9g.137236234G=CA1884372277SLC34A3c.1618G= (p.Ala540=)
9g.137236234G>TCA375741319SLC34A3c.1618G>T (p.Ala540Ser)
dbSNP gnomAD v4
9g.137236235C>ACA375741323SLC34A3c.1619C>A (p.Ala540Asp)
gnomAD v4
9g.137236235C>GCA375741332SLC34A3c.1619C>G (p.Ala540Gly)
9g.137236235C>TCA375741337SLC34A3c.1619C>T (p.Ala540Val)
gnomAD v4
9g.137236236C>ACA467942329SLC34A3c.1620C>A (p.Ala540=)
gnomAD v4
9g.137236236C=CA1884372278SLC34A3c.1620C= (p.Ala540=)
9g.137236236C>GCA467942330SLC34A3c.1620C>G (p.Ala540=)
9g.137236236C>TCA201700168SLC34A3c.1620C>T (p.Ala540=)
dbSNP gnomAD v2 gnomAD v4
9g.137236237T>ACA375741343SLC34A3c.1621T>A (p.Trp541Arg)
9g.137236237T>CCA375741346SLC34A3c.1621T>C (p.Trp541Arg)
gnomAD v4
9g.137236237T>GCA375741351SLC34A3c.1621T>G (p.Trp541Gly)
9g.137236238G>ACA201700172SLC34A3c.1622G>A (p.Trp541Ter)
dbSNP gnomAD v2 gnomAD v4
9g.137236238G>CCA375741358SLC34A3c.1622G>C (p.Trp541Ser)
gnomAD v4
9g.137236238G=CA1884372279SLC34A3c.1622G= (p.Trp541=)
9g.137236238G>TCA375741356SLC34A3c.1622G>T (p.Trp541Leu)
gnomAD v4
9g.137236239G>ACA5365018SLC34A3c.1623G>A (p.Trp541Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236239G>CCA375741364SLC34A3c.1623G>C (p.Trp541Cys)
9g.137236239G=CA1884372280SLC34A3c.1623G= (p.Trp541=)
9g.137236239G>TCA375741368SLC34A3c.1623G>T (p.Trp541Cys)
gnomAD v4
9g.137236239_137236240delinsGCCA1884372281SLC34A3c.1623_1624delinsGC (p.Trp541=)
9g.137236240delCA5365017SLC34A3c.1624del (p.Leu542CysfsTer25)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236240C>ACA375741373SLC34A3c.1624C>A (p.Leu542Met)
gnomAD v4
9g.137236240C=CA1884372282SLC34A3c.1624C= (p.Leu542=)
9g.137236240C>GCA375741376SLC34A3c.1624C>G (p.Leu542Val)
9g.137236240C>TCA467942336SLC34A3c.1624C>T (p.Leu542=)
dbSNP gnomAD v2 gnomAD v4
9g.137236241T>ACA375741380SLC34A3c.1625T>A (p.Leu542Gln)
9g.137236241T>CCA375741382SLC34A3c.1625T>C (p.Leu542Pro)
dbSNP gnomAD v4
9g.137236241T>GCA375741385SLC34A3c.1625T>G (p.Leu542Arg)
9g.137236241T=CA1884372283SLC34A3c.1625T= (p.Leu542=)
9g.137236242G>ACA467942340SLC34A3c.1626G>A (p.Leu542=)
9g.137236242G>CCA467942339SLC34A3c.1626G>C (p.Leu542=)
dbSNP gnomAD v4
9g.137236242G=CA1884372284SLC34A3c.1626G= (p.Leu542=)
9g.137236242G>TCA467942338SLC34A3c.1626G>T (p.Leu542=)
gnomAD v4
9g.137236242_137236243delinsGCCA1884372285SLC34A3c.1626_1627delinsGC (p.Leu542=)
9g.137236243C>ACA375741390SLC34A3c.1627C>A (p.Pro543Thr)
9g.137236243C>GCA375741391SLC34A3c.1627C>G (p.Pro543Ala)
9g.137236243C>TCA375741394SLC34A3c.1627C>T (p.Pro543Ser)
gnomAD v4
9g.137236244delCA5365019SLC34A3c.1628del (p.Pro543LeufsTer24)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236244C>ACA375741403SLC34A3c.1628C>A (p.Pro543His)
9g.137236244C=CA1884372286SLC34A3c.1628C= (p.Pro543=)
9g.137236244C>GCA375741407SLC34A3c.1628C>G (p.Pro543Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137236244C>TCA375741404SLC34A3c.1628C>T (p.Pro543Leu)
gnomAD v4
9g.137236245T>ACA467942346SLC34A3c.1629T>A (p.Pro543=)
9g.137236245T>CCA5365020SLC34A3c.1629T>C (p.Pro543=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236245T>GCA467942347SLC34A3c.1629T>G (p.Pro543=)
9g.137236245T=CA1884372287SLC34A3c.1629T= (p.Pro543=)
9g.137236246G>ACA375741413SLC34A3c.1630G>A (p.Val544Ile)
9g.137236246G>CCA375741415SLC34A3c.1630G>C (p.Val544Leu)
9g.137236246G>TCA375741419SLC34A3c.1630G>T (p.Val544Phe)
gnomAD v4
9g.137236247T>ACA375741422SLC34A3c.1631T>A (p.Val544Asp)
9g.137236247T>CCA375741425SLC34A3c.1631T>C (p.Val544Ala)
dbSNP gnomAD v3 gnomAD v4
9g.137236247T>GCA375741428SLC34A3c.1631T>G (p.Val544Gly)
gnomAD v4
9g.137236247T=CA1884372288SLC34A3c.1631T= (p.Val544=)
9g.137236248C>ACA467942352SLC34A3c.1632C>A (p.Val544=)
9g.137236248C>GCA467942354SLC34A3c.1632C>G (p.Val544=)
9g.137236248C>TCA467942355SLC34A3c.1632C>T (p.Val544=)
gnomAD v4
9g.137236249C>ACA375741432SLC34A3c.1633C>A (p.Arg545Ser)
gnomAD v4
9g.137236249C=CA1884372291SLC34A3c.1633C= (p.Arg545=)
9g.137236249C>GCA375741435SLC34A3c.1633C>G (p.Arg545Gly)
gnomAD v4
9g.137236249C>TCA5365021SLC34A3c.1633C>T (p.Arg545Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236249_137236263delinsCGCCTGCGCTCCTGGCA1884372290SLC34A3c.1633_1647delinsCGCCTGCGCTCCTGG (p.Arg545=)
9g.137236249_137236279delinsCGCCTGCGCTCCTGGGCCTGGCTCCCCGTCTCA1884372289SLC34A3c.1633_1663delinsCGCCTGCGCTCCTGGGCCTGGCTCCCCGTCT (p.Arg545=)
9g.137236250G>ACA5365022SLC34A3c.1634G>A (p.Arg545His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236250G>CCA375741442SLC34A3c.1634G>C (p.Arg545Pro)
dbSNP gnomAD v4
9g.137236250G=CA1884372292SLC34A3c.1634G= (p.Arg545=)
9g.137236250G>TCA375741439SLC34A3c.1634G>T (p.Arg545Leu)
dbSNP gnomAD v2 gnomAD v4
9g.137236255_137236268delCA658653795SLC34A3c.1639_1652del (p.Arg547AlafsTer?)
ClinVar dbSNP gnomAD v4
9g.137236251_137236280delCA591374008SLC34A3c.1635_1664del (p.Leu546_Trp555del)
dbSNP gnomAD v2 gnomAD v4
9g.137236251C>ACA467942356SLC34A3c.1635C>A (p.Arg545=)
9g.137236251C>GCA467942357SLC34A3c.1635C>G (p.Arg545=)
9g.137236251C>TCA467942359SLC34A3c.1635C>T (p.Arg545=)
gnomAD v4
9g.137236252C>ACA375741444SLC34A3c.1636C>A (p.Leu546Met)
9g.137236252C>GCA375741445SLC34A3c.1636C>G (p.Leu546Val)
9g.137236252C>TCA467942362SLC34A3c.1636C>T (p.Leu546=)
9g.137236253T>ACA375741449SLC34A3c.1637T>A (p.Leu546Gln)
9g.137236253T>CCA375741453SLC34A3c.1637T>C (p.Leu546Pro)
9g.137236253T>GCA5365023SLC34A3c.1637T>G (p.Leu546Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236253T=CA1884372293SLC34A3c.1637T= (p.Leu546=)
9g.137236254G>ACA467942364SLC34A3c.1638G>A (p.Leu546=)
gnomAD v4
9g.137236254G>CCA201700187SLC34A3c.1638G>C (p.Leu546=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137236254G=CA1884372294SLC34A3c.1638G= (p.Leu546=)
9g.137236254G>TCA467942366SLC34A3c.1638G>T (p.Leu546=)
gnomAD v4
9g.137236255C>ACA375741454SLC34A3c.1639C>A (p.Arg547Ser)
gnomAD v4
9g.137236255C=CA1884372295SLC34A3c.1639C= (p.Arg547=)
9g.137236255C>GCA375741455SLC34A3c.1639C>G (p.Arg547Gly)
9g.137236255C>TCA5365024SLC34A3c.1639C>T (p.Arg547Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236256G>ACA5365025SLC34A3c.1640G>A (p.Arg547His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236256G>CCA375741462SLC34A3c.1640G>C (p.Arg547Pro)
dbSNP gnomAD v3 gnomAD v4
9g.137236256G=CA1884372296SLC34A3c.1640G= (p.Arg547=)
9g.137236256G>TCA375741468SLC34A3c.1640G>T (p.Arg547Leu)
gnomAD v4
9g.137236257C>ACA467942368SLC34A3c.1641C>A (p.Arg547=)
gnomAD v4
9g.137236257C=CA1884372297SLC34A3c.1641C= (p.Arg547=)
9g.137236257C>GCA467942369SLC34A3c.1641C>G (p.Arg547=)
dbSNP
9g.137236257C>TCA467942371SLC34A3c.1641C>T (p.Arg547=)
gnomAD v4
9g.137236257_137236258insAGGTGGGGGAAGCAGCCCGATGCTGCCCA2603923006SLC34A3c.1641_1642insAGGTGGGGGAAGCAGCCCGATGCTGCC (p.Arg547_Ser548insArgTrpGlyLysGlnProAspAlaAla)
gnomAD v3 gnomAD v4
9g.137236257_137236258insAGGTGGGGGAAGCAGCCCGACA1130092964SLC34A3c.1641_1642insAGGTGGGGGAAGCAGCCCGA (p.Ser548ArgfsTer26)
gnomAD v3 gnomAD v4
9g.137236258T>ACA375741472SLC34A3c.1642T>A (p.Ser548Thr)
gnomAD v3 gnomAD v4
9g.137236258T>CCA375741474SLC34A3c.1642T>C (p.Ser548Pro)
dbSNP gnomAD v4
9g.137236258T>GCA375741475SLC34A3c.1642T>G (p.Ser548Ala)
9g.137236258T=CA1884372298SLC34A3c.1642T= (p.Ser548=)
9g.137236259C>ACA375741476SLC34A3c.1643C>A (p.Ser548Tyr)
gnomAD v4
9g.137236259C>GCA375741478SLC34A3c.1643C>G (p.Ser548Cys)
gnomAD v3 gnomAD v4
9g.137236259C>TCA375741480SLC34A3c.1643C>T (p.Ser548Phe)
gnomAD v4
9g.137236260C>ACA467942377SLC34A3c.1644C>A (p.Ser548=)
gnomAD v4
9g.137236260C>GCA467942379SLC34A3c.1644C>G (p.Ser548=)
gnomAD v3 gnomAD v4
9g.137236260C>TCA467942380SLC34A3c.1644C>T (p.Ser548=)
gnomAD v4
9g.137236261T>ACA375741488SLC34A3c.1645T>A (p.Trp549Arg)
gnomAD v4
9g.137236261T>CCA201700200SLC34A3c.1645T>C (p.Trp549Arg)
dbSNP gnomAD v2 gnomAD v4
9g.137236261T>GCA375741485SLC34A3c.1645T>G (p.Trp549Gly)
9g.137236261T=CA1884372299SLC34A3c.1645T= (p.Trp549=)
9g.137236262G>ACA375741497SLC34A3c.1646G>A (p.Trp549Ter)
gnomAD v4
9g.137236262G>CCA375741505SLC34A3c.1646G>C (p.Trp549Ser)
9g.137236262G>TCA375741517SLC34A3c.1646G>T (p.Trp549Leu)
gnomAD v4
9g.137236263G>ACA375741521SLC34A3c.1647G>A (p.Trp549Ter)
dbSNP gnomAD v2 gnomAD v4
9g.137236263G>CCA375741526SLC34A3c.1647G>C (p.Trp549Cys)
9g.137236263G=CA1884372300SLC34A3c.1647G= (p.Trp549=)
9g.137236263G>TCA375741539SLC34A3c.1647G>T (p.Trp549Cys)
gnomAD v4
9g.137236264G>ACA375741551SLC34A3c.1648G>A (p.Ala550Thr)
dbSNP gnomAD v4
9g.137236264G>CCA375741556SLC34A3c.1648G>C (p.Ala550Pro)
9g.137236264G=CA1884372301SLC34A3c.1648G= (p.Ala550=)
9g.137236264G>TCA375741561SLC34A3c.1648G>T (p.Ala550Ser)
gnomAD v4
9g.137236265_137236276delCA2692818236SLC34A3c.1649_1660del (p.Ala550_Pro553del)
gnomAD v4
9g.137236265C>ACA375741571SLC34A3c.1649C>A (p.Ala550Asp)
gnomAD v4
9g.137236265C=CA1884372302SLC34A3c.1649C= (p.Ala550=)
9g.137236265C>GCA375741574SLC34A3c.1649C>G (p.Ala550Gly)
gnomAD v4
9g.137236265C>TCA375741576SLC34A3c.1649C>T (p.Ala550Val)
dbSNP gnomAD v4
9g.137236266C>ACA467942392SLC34A3c.1650C>A (p.Ala550=)
gnomAD v4
9g.137236266C=CA1884372303SLC34A3c.1650C= (p.Ala550=)
9g.137236266C>GCA467942395SLC34A3c.1650C>G (p.Ala550=)
9g.137236266C>TCA201700201SLC34A3c.1650C>T (p.Ala550=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137236274_137236285delCA2579530754SLC34A3c.1658_1669del (p.Pro553_Leu556del)
gnomAD v4
9g.137236267T>ACA375741592SLC34A3c.1651T>A (p.Trp551Arg)
9g.137236267T>CCA375741586SLC34A3c.1651T>C (p.Trp551Arg)
9g.137236267T>GCA375741589SLC34A3c.1651T>G (p.Trp551Gly)
9g.137236268G>ACA375741593SLC34A3c.1652G>A (p.Trp551Ter)
9g.137236268G>CCA375741595SLC34A3c.1652G>C (p.Trp551Ser)
gnomAD v4
9g.137236268G>TCA375741598SLC34A3c.1652G>T (p.Trp551Leu)
gnomAD v4
9g.137236269G>ACA16618814SLC34A3c.1653G>A (p.Trp551Ter)
ClinVar dbSNP gnomAD v4
9g.137236269G>CCA375741601SLC34A3c.1653G>C (p.Trp551Cys)
9g.137236269G=CA1884372304SLC34A3c.1653G= (p.Trp551=)
9g.137236269G>TCA375741599SLC34A3c.1653G>T (p.Trp551Cys)
gnomAD v4
9g.137236270C>ACA375741618SLC34A3c.1654C>A (p.Leu552Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137236270C=CA1884372305SLC34A3c.1654C= (p.Leu552=)
9g.137236270C>GCA375741620SLC34A3c.1654C>G (p.Leu552Val)
dbSNP gnomAD v4
9g.137236270C>TCA375741623SLC34A3c.1654C>T (p.Leu552Phe)
gnomAD v4
9g.137236271T>ACA375741627SLC34A3c.1655T>A (p.Leu552His)
9g.137236271T>CCA375741630SLC34A3c.1655T>C (p.Leu552Pro)
gnomAD v4
9g.137236271T>GCA5365026SLC34A3c.1655T>G (p.Leu552Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236271T=CA1884372306SLC34A3c.1655T= (p.Leu552=)
9g.137236272C>ACA467942402SLC34A3c.1656C>A (p.Leu552=)
gnomAD v4
9g.137236272C=CA1884372307SLC34A3c.1656C= (p.Leu552=)
9g.137236272C>GCA467942404SLC34A3c.1656C>G (p.Leu552=)
gnomAD v4
9g.137236272C>TCA467942406SLC34A3c.1656C>T (p.Leu552=)
dbSNP gnomAD v2 gnomAD v4
9g.137236275delCA2538089510SLC34A3c.1659del (p.Val554SerfsTer13)
9g.137236273C>ACA375741635SLC34A3c.1657C>A (p.Pro553Thr)
gnomAD v4
9g.137236273C=CA1884372308SLC34A3c.1657C= (p.Pro553=)
9g.137236273C>GCA375741655SLC34A3c.1657C>G (p.Pro553Ala)
9g.137236273C>TCA375741648SLC34A3c.1657C>T (p.Pro553Ser)
dbSNP gnomAD v2 gnomAD v4
9g.137236274C>ACA375741656SLC34A3c.1658C>A (p.Pro553His)
gnomAD v4
9g.137236274C>GCA375741660SLC34A3c.1658C>G (p.Pro553Arg)
9g.137236274C>TCA375741661SLC34A3c.1658C>T (p.Pro553Leu)
gnomAD v4
9g.137236275C>ACA467942410SLC34A3c.1659C>A (p.Pro553=)
gnomAD v4
9g.137236275C=CA1884372309SLC34A3c.1659C= (p.Pro553=)
9g.137236275C>GCA467942411SLC34A3c.1659C>G (p.Pro553=)
9g.137236275C>TCA5365027SLC34A3c.1659C>T (p.Pro553=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236276G>ACA201700224SLC34A3c.1660G>A (p.Val554Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137236276G>CCA375741664SLC34A3c.1660G>C (p.Val554Leu)
9g.137236276G=CA1884372310SLC34A3c.1660G= (p.Val554=)
9g.137236276G>TCA375741667SLC34A3c.1660G>T (p.Val554Phe)
gnomAD v4
9g.137236277T>ACA375741671SLC34A3c.1661T>A (p.Val554Asp)
9g.137236277T>CCA375741672SLC34A3c.1661T>C (p.Val554Ala)
dbSNP
9g.137236277T>GCA375741673SLC34A3c.1661T>G (p.Val554Gly)
9g.137236277T=CA1884372311SLC34A3c.1661T= (p.Val554=)
9g.137236278C>ACA467942416SLC34A3c.1662C>A (p.Val554=)
9g.137236278C>GCA467942417SLC34A3c.1662C>G (p.Val554=)
9g.137236278C>TCA467942419SLC34A3c.1662C>T (p.Val554=)
9g.137236279T>ACA375741680SLC34A3c.1663T>A (p.Trp555Arg)
9g.137236279T>CCA375741678SLC34A3c.1663T>C (p.Trp555Arg)
9g.137236279T>GCA375741676SLC34A3c.1663T>G (p.Trp555Gly)
9g.137236280G>ACA375741686SLC34A3c.1664G>A (p.Trp555Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137236280G>CCA375741696SLC34A3c.1664G>C (p.Trp555Ser)
9g.137236280G=CA1884372312SLC34A3c.1664G= (p.Trp555=)
9g.137236280G>TCA375741689SLC34A3c.1664G>T (p.Trp555Leu)
gnomAD v4
9g.137236281delCA2692818237SLC34A3c.1665del (p.Trp555CysfsTer12)
gnomAD v4
9g.137236281G>ACA375741699SLC34A3c.1665G>A (p.Trp555Ter)
gnomAD v4
9g.137236281G>CCA375741703SLC34A3c.1665G>C (p.Trp555Cys)
9g.137236281G>TCA375741706SLC34A3c.1665G>T (p.Trp555Cys)
gnomAD v4
9g.137236282C>ACA375741708SLC34A3c.1666C>A (p.Leu556Ile)
9g.137236282C=CA1884372313SLC34A3c.1666C= (p.Leu556=)
9g.137236282C>GCA375741710SLC34A3c.1666C>G (p.Leu556Val)
9g.137236282C>TCA375741712SLC34A3c.1666C>T (p.Leu556Phe)
dbSNP gnomAD v3 gnomAD v4
9g.137236283T>ACA375741715SLC34A3c.1667T>A (p.Leu556His)
9g.137236283T>CCA375741719SLC34A3c.1667T>C (p.Leu556Pro)
gnomAD v4
9g.137236283T>GCA375741722SLC34A3c.1667T>G (p.Leu556Arg)
9g.137236284C>ACA467942432SLC34A3c.1668C>A (p.Leu556=)
gnomAD v4
9g.137236284C=CA1884372314SLC34A3c.1668C= (p.Leu556=)
9g.137236284C>GCA467942433SLC34A3c.1668C>G (p.Leu556=)
9g.137236284C>TCA467942434SLC34A3c.1668C>T (p.Leu556=)
dbSNP gnomAD v3 gnomAD v4
9g.137236285C>ACA375741726SLC34A3c.1669C>A (p.His557Asn)
9g.137236285C>GCA375741727SLC34A3c.1669C>G (p.His557Asp)
9g.137236285C>TCA375741728SLC34A3c.1669C>T (p.His557Tyr)
9g.137236286A>CCA375741730SLC34A3c.1670A>C (p.His557Pro)
9g.137236286A>GCA375741740SLC34A3c.1670A>G (p.His557Arg)
gnomAD v4
9g.137236286A>TCA375741737SLC34A3c.1670A>T (p.His557Leu)
9g.137236287T>ACA375741759SLC34A3c.1671T>A (p.His557Gln)
9g.137236287T>CCA467942438SLC34A3c.1671T>C (p.His557=)
gnomAD v4
9g.137236287T>GCA375741765SLC34A3c.1671T>G (p.His557Gln)
gnomAD v4
9g.137236288T>ACA375741768SLC34A3c.1672T>A (p.Ser558Thr)
9g.137236288T>CCA375741777SLC34A3c.1672T>C (p.Ser558Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137236288T>GCA375741784SLC34A3c.1672T>G (p.Ser558Ala)
9g.137236288T=CA1884372315SLC34A3c.1672T= (p.Ser558=)
9g.137236288_137236294delCA2741063353SLC34A3c.1672_1678del (p.Leu559ProfsTer6)
9g.137236288_137236331dupCA2692818238SLC34A3c.1672_1715dup (p.Asn573LeufsTer9)
gnomAD v4
9g.137236289C>ACA375741788SLC34A3c.1673C>A (p.Ser558Tyr)
9g.137236289C=CA1884372316SLC34A3c.1673C= (p.Ser558=)
9g.137236289C>GCA375741789SLC34A3c.1673C>G (p.Ser558Cys)
dbSNP gnomAD v2 gnomAD v4
9g.137236289C>TCA375741790SLC34A3c.1673C>T (p.Ser558Phe)
dbSNP
9g.137236290T>ACA467942443SLC34A3c.1674T>A (p.Ser558=)
9g.137236290T>CCA467942444SLC34A3c.1674T>C (p.Ser558=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137236290T>GCA467942445SLC34A3c.1674T>G (p.Ser558=)
9g.137236290T=CA1884372317SLC34A3c.1674T= (p.Ser558=)
9g.137236290_137236298delinsTCTGGAGCCCA1884372318SLC34A3c.1674_1682delinsTCTGGAGCC (p.Ser558=)
9g.137236291C>ACA375741795SLC34A3c.1675C>A (p.Leu559Met)
9g.137236291C>GCA375741796SLC34A3c.1675C>G (p.Leu559Val)
gnomAD v4
9g.137236291C>TCA467942447SLC34A3c.1675C>T (p.Leu559=)
9g.137236295_137236302delCA591374009SLC34A3c.1679_1686del (p.Glu560GlyfsTer30)
dbSNP gnomAD v2 gnomAD v4
9g.137236292T>ACA375741807SLC34A3c.1676T>A (p.Leu559Gln)
9g.137236292T>CCA375741815SLC34A3c.1676T>C (p.Leu559Pro)
9g.137236292T>GCA375741803SLC34A3c.1676T>G (p.Leu559Arg)
9g.137236292_137236293delinsTGCA1884372319SLC34A3c.1676_1677delinsTG (p.Leu559=)
9g.137236293G>ACA467942450SLC34A3c.1677G>A (p.Leu559=)
9g.137236293G>CCA467942451SLC34A3c.1677G>C (p.Leu559=)
9g.137236293G>TCA467942452SLC34A3c.1677G>T (p.Leu559=)
gnomAD v4
9g.137236294delCA1130092995SLC34A3c.1678del (p.Glu560SerfsTer7)
dbSNP gnomAD v3 gnomAD v4
9g.137236294G>ACA375741819SLC34A3c.1678G>A (p.Glu560Lys)
9g.137236294G>CCA375741825SLC34A3c.1678G>C (p.Glu560Gln)
9g.137236294G>TCA375741829SLC34A3c.1678G>T (p.Glu560Ter)
gnomAD v4
9g.137236295A>CCA375741844SLC34A3c.1679A>C (p.Glu560Ala)
9g.137236295A>GCA375741845SLC34A3c.1679A>G (p.Glu560Gly)
9g.137236295A>TCA375741849SLC34A3c.1679A>T (p.Glu560Val)
9g.137236296G>ACA467942454SLC34A3c.1680G>A (p.Glu560=)
9g.137236296G>CCA375741863SLC34A3c.1680G>C (p.Glu560Asp)
9g.137236296G>TCA375741851SLC34A3c.1680G>T (p.Glu560Asp)
gnomAD v4
9g.137236297C>ACA375741864SLC34A3c.1681C>A (p.Pro561Thr)
dbSNP gnomAD v3 gnomAD v4
9g.137236297C=CA1884372320SLC34A3c.1681C= (p.Pro561=)
9g.137236297C>GCA375741865SLC34A3c.1681C>G (p.Pro561Ala)
9g.137236297C>TCA375741867SLC34A3c.1681C>T (p.Pro561Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137236299delCA2692818239SLC34A3c.1683del (p.Trp562GlyfsTer5)
gnomAD v4
9g.137236298C>ACA375741890SLC34A3c.1682C>A (p.Pro561His)
9g.137236298C>GCA375741892SLC34A3c.1682C>G (p.Pro561Arg)
9g.137236298C>TCA375741893SLC34A3c.1682C>T (p.Pro561Leu)
9g.137236299C>ACA467942460SLC34A3c.1683C>A (p.Pro561=)
gnomAD v4
9g.137236299C>GCA467942461SLC34A3c.1683C>G (p.Pro561=)
9g.137236299C>TCA467942462SLC34A3c.1683C>T (p.Pro561=)
gnomAD v4
9g.137236299_137236303delCA2741063354SLC34A3c.1683_1687del (p.Trp562ProfsTer29)
9g.137236300T>ACA375741897SLC34A3c.1684T>A (p.Trp562Arg)
9g.137236300T>CCA375741899SLC34A3c.1684T>C (p.Trp562Arg)
gnomAD v4
9g.137236300T>GCA375741898SLC34A3c.1684T>G (p.Trp562Gly)
9g.137236301G>ACA375741900SLC34A3c.1685G>A (p.Trp562Ter)
9g.137236301G>CCA375741903SLC34A3c.1685G>C (p.Trp562Ser)
9g.137236301G>TCA375741904SLC34A3c.1685G>T (p.Trp562Leu)
gnomAD v4
9g.137236303delCA2841301176SLC34A3c.1687del (p.Asp563ThrfsTer4)
9g.137236302G>ACA375741905SLC34A3c.1686G>A (p.Trp562Ter)
dbSNP gnomAD v3 gnomAD v4
9g.137236302G>CCA375741906SLC34A3c.1686G>C (p.Trp562Cys)
gnomAD v4
9g.137236302G=CA1884372321SLC34A3c.1686G= (p.Trp562=)
9g.137236302G>TCA375741916SLC34A3c.1686G>T (p.Trp562Cys)
gnomAD v4

Number of alleles fetched