Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.52403468T>ACA433885867BAP1c.1677A>T (p.Thr559=)
c.1623A>T (p.Thr541=)
n.84A>T
c.119+333A>T
c.180A>T (p.Thr60=)
 dbSNP
3g.52403468T>CCA433885870BAP1c.1677A>G (p.Thr559=)
c.1623A>G (p.Thr541=)
n.84A>G
c.119+333A>G
c.180A>G (p.Thr60=)
 dbSNP gnomAD v4
3g.52403468T>GCA433885869BAP1c.1677A>C (p.Thr559=)
c.1623A>C (p.Thr541=)
n.84A>C
c.119+333A>C
c.180A>C (p.Thr60=)
3g.52403469G>ACA353099922BAP1c.1676C>T (p.Thr559Ile)
c.1622C>T (p.Thr541Ile)
n.83C>T
c.119+332C>T
c.179C>T (p.Thr60Ile)
 ClinVar dbSNP gnomAD v2
3g.52403469G>CCA353099924BAP1c.1676C>G (p.Thr559Arg)
c.1622C>G (p.Thr541Arg)
n.83C>G
c.119+332C>G
c.179C>G (p.Thr60Arg)
 ClinVar dbSNP
3g.52403469G=CA1364836419BAP1c.1676C= (p.Thr559=)
c.1622C= (p.Thr541=)
n.83C=
c.119+332C=
c.179C= (p.Thr60=)
3g.52403469G>TCA353099933BAP1c.1676C>A (p.Thr559Lys)
c.1622C>A (p.Thr541Lys)
n.83C>A
c.119+332C>A
c.179C>A (p.Thr60Lys)
 dbSNP gnomAD v2 gnomAD v4
3g.52403470T>ACA353099935BAP1c.1675A>T (p.Thr559Ser)
c.1621A>T (p.Thr541Ser)
n.82A>T
c.119+331A>T
c.178A>T (p.Thr60Ser)
 dbSNP
3g.52403470T>CCA353099941BAP1c.1675A>G (p.Thr559Ala)
c.1621A>G (p.Thr541Ala)
n.82A>G
c.119+331A>G
c.178A>G (p.Thr60Ala)
 dbSNP
3g.52403470T>GCA353099944BAP1c.1675A>C (p.Thr559Pro)
c.1621A>C (p.Thr541Pro)
n.82A>C
c.119+331A>C
c.178A>C (p.Thr60Pro)
 dbSNP
3g.52403472_52403474delCA2580070226BAP1c.1673_1675del (p.Ser558del)
c.1619_1621del (p.Ser540del)
n.80_82del
c.119+329_119+331del
c.176_178del (p.Ser59del)
 ClinVar
3g.52403471G>ACA433885873BAP1c.1674C>T (p.Ser558=)
c.1620C>T (p.Ser540=)
n.81C>T
c.119+330C>T
c.177C>T (p.Ser59=)
 ClinVar dbSNP
3g.52403471G>CCA353099946BAP1c.1674C>G (p.Ser558Arg)
c.1620C>G (p.Ser540Arg)
n.81C>G
c.119+330C>G
c.177C>G (p.Ser59Arg)
 dbSNP
3g.52403471G>TCA353099948BAP1c.1674C>A (p.Ser558Arg)
c.1620C>A (p.Ser540Arg)
n.81C>A
c.119+330C>A
c.177C>A (p.Ser59Arg)
3g.52403472C>ACA2436757BAP1c.1673G>T (p.Ser558Ile)
c.1619G>T (p.Ser540Ile)
n.80G>T
c.119+329G>T
c.176G>T (p.Ser59Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403472C=CA1364836421BAP1c.1673G= (p.Ser558=)
c.1619G= (p.Ser540=)
n.80G=
c.119+329G=
c.176G= (p.Ser59=)
3g.52403472C>GCA353099952BAP1c.1673G>C (p.Ser558Thr)
c.1619G>C (p.Ser540Thr)
n.80G>C
c.119+329G>C
c.176G>C (p.Ser59Thr)
 dbSNP
3g.52403472C>TCA353099951BAP1c.1673G>A (p.Ser558Asn)
c.1619G>A (p.Ser540Asn)
n.80G>A
c.119+329G>A
c.176G>A (p.Ser59Asn)
 ClinVar dbSNP
3g.52403473T>ACA353099957BAP1c.1672A>T (p.Ser558Cys)
c.1618A>T (p.Ser540Cys)
n.79A>T
c.119+328A>T
c.175A>T (p.Ser59Cys)
 dbSNP
3g.52403473T>CCA353099958BAP1c.1672A>G (p.Ser558Gly)
c.1618A>G (p.Ser540Gly)
n.79A>G
c.119+328A>G
c.175A>G (p.Ser59Gly)
 ClinVar dbSNP
3g.52403473T>GCA353099963BAP1c.1672A>C (p.Ser558Arg)
c.1618A>C (p.Ser540Arg)
n.79A>C
c.119+328A>C
c.175A>C (p.Ser59Arg)
 dbSNP
3g.52403474G>ACA74740619BAP1c.1671C>T (p.Ile557=)
c.1617C>T (p.Ile539=)
n.78C>T
c.119+327C>T
c.174C>T (p.Ile58=)
 ClinVar dbSNP gnomAD v4
3g.52403474G>CCA353099966BAP1c.1671C>G (p.Ile557Met)
c.1617C>G (p.Ile539Met)
n.78C>G
c.119+327C>G
c.174C>G (p.Ile58Met)
 dbSNP
3g.52403474G=CA1364836431BAP1c.1671C= (p.Ile557=)
c.1617C= (p.Ile539=)
n.78C=
c.119+327C=
c.174C= (p.Ile58=)
3g.52403474G>TCA433885881BAP1c.1671C>A (p.Ile557=)
c.1617C>A (p.Ile539=)
n.78C>A
c.119+327C>A
c.174C>A (p.Ile58=)
 ClinVar dbSNP
3g.52403475A>CCA353099982BAP1c.1670T>G (p.Ile557Ser)
c.1616T>G (p.Ile539Ser)
n.77T>G
c.119+326T>G
c.173T>G (p.Ile58Ser)
 dbSNP
3g.52403475A>GCA353099985BAP1c.1670T>C (p.Ile557Thr)
c.1616T>C (p.Ile539Thr)
n.77T>C
c.119+326T>C
c.173T>C (p.Ile58Thr)
 dbSNP
3g.52403475A>TCA353099990BAP1c.1670T>A (p.Ile557Asn)
c.1616T>A (p.Ile539Asn)
n.77T>A
c.119+326T>A
c.173T>A (p.Ile58Asn)
 dbSNP
3g.52403476T>ACA353099994BAP1c.1669A>T (p.Ile557Phe)
c.1615A>T (p.Ile539Phe)
n.76A>T
c.119+325A>T
c.172A>T (p.Ile58Phe)
 dbSNP gnomAD v4
3g.52403476T>CCA2436758BAP1c.1669A>G (p.Ile557Val)
c.1615A>G (p.Ile539Val)
n.76A>G
c.119+325A>G
c.172A>G (p.Ile58Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403476T>GCA353100002BAP1c.1669A>C (p.Ile557Leu)
c.1615A>C (p.Ile539Leu)
n.76A>C
c.119+325A>C
c.172A>C (p.Ile58Leu)
 dbSNP
3g.52403476T=CA1364836434BAP1c.1669A= (p.Ile557=)
c.1615A= (p.Ile539=)
n.76A=
c.119+325A=
c.172A= (p.Ile58=)
3g.52403476_52403479delCA645529901BAP1c.1666_1669del (p.Val556SerfsTer14)
c.1612_1615del (p.Val538SerfsTer14)
n.73_76del
c.119+322_119+325del
c.169_172del (p.Val57SerfsTer14)
 COSMIC
3g.52403477G>ACA433885887BAP1c.1668C>T (p.Val556=)
c.1614C>T (p.Val538=)
n.75C>T
c.119+324C>T
c.171C>T (p.Val57=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403477G>CCA433885885BAP1c.1668C>G (p.Val556=)
c.1614C>G (p.Val538=)
n.75C>G
c.119+324C>G
c.171C>G (p.Val57=)
 dbSNP
3g.52403477G=CA1364836437BAP1c.1668C= (p.Val556=)
c.1614C= (p.Val538=)
n.75C=
c.119+324C=
c.171C= (p.Val57=)
3g.52403477G>TCA433885886BAP1c.1668C>A (p.Val556=)
c.1614C>A (p.Val538=)
n.75C>A
c.119+324C>A
c.171C>A (p.Val57=)
3g.52403478A>CCA353100017BAP1c.1667T>G (p.Val556Gly)
c.1613T>G (p.Val538Gly)
n.74T>G
c.119+323T>G
c.170T>G (p.Val57Gly)
 dbSNP
3g.52403478A>GCA353100015BAP1c.1667T>C (p.Val556Ala)
c.1613T>C (p.Val538Ala)
n.74T>C
c.119+323T>C
c.170T>C (p.Val57Ala)
 dbSNP
3g.52403478A>TCA353100008BAP1c.1667T>A (p.Val556Asp)
c.1613T>A (p.Val538Asp)
n.74T>A
c.119+323T>A
c.170T>A (p.Val57Asp)
 dbSNP
3g.52403479C>ACA353100020BAP1c.1666G>T (p.Val556Phe)
c.1612G>T (p.Val538Phe)
n.73G>T
c.119+322G>T
c.169G>T (p.Val57Phe)
3g.52403479C>GCA353100024BAP1c.1666G>C (p.Val556Leu)
c.1612G>C (p.Val538Leu)
n.73G>C
c.119+322G>C
c.169G>C (p.Val57Leu)
 dbSNP
3g.52403479C>TCA353100031BAP1c.1666G>A (p.Val556Ile)
c.1612G>A (p.Val538Ile)
n.73G>A
c.119+322G>A
c.169G>A (p.Val57Ile)
 ClinVar dbSNP
3g.52403480A>CCA433885890BAP1c.1665T>G (p.Pro555=)
c.1611T>G (p.Pro537=)
n.72T>G
c.119+321T>G
c.168T>G (p.Pro56=)
3g.52403480A>GCA433885892BAP1c.1665T>C (p.Pro555=)
c.1611T>C (p.Pro537=)
n.72T>C
c.119+321T>C
c.168T>C (p.Pro56=)
 ClinVar dbSNP
3g.52403480A>TCA433885893BAP1c.1665T>A (p.Pro555=)
c.1611T>A (p.Pro537=)
n.72T>A
c.119+321T>A
c.168T>A (p.Pro56=)
3g.52403481G>ACA353100034BAP1c.1664C>T (p.Pro555Leu)
c.1610C>T (p.Pro537Leu)
n.71C>T
c.119+320C>T
c.167C>T (p.Pro56Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403481G>CCA353100044BAP1c.1664C>G (p.Pro555Arg)
c.1610C>G (p.Pro537Arg)
n.71C>G
c.119+320C>G
c.167C>G (p.Pro56Arg)
 dbSNP
3g.52403481G=CA1364836440BAP1c.1664C= (p.Pro555=)
c.1610C= (p.Pro537=)
n.71C=
c.119+320C=
c.167C= (p.Pro56=)
3g.52403481G>TCA353100046BAP1c.1664C>A (p.Pro555His)
c.1610C>A (p.Pro537His)
n.71C>A
c.119+320C>A
c.167C>A (p.Pro56His)
 dbSNP
3g.52403482G>ACA353100052BAP1c.1663C>T (p.Pro555Ser)
c.1609C>T (p.Pro537Ser)
n.70C>T
c.119+319C>T
c.166C>T (p.Pro56Ser)
 dbSNP gnomAD v4
3g.52403482G>CCA353100054BAP1c.1663C>G (p.Pro555Ala)
c.1609C>G (p.Pro537Ala)
n.70C>G
c.119+319C>G
c.166C>G (p.Pro56Ala)
 dbSNP
3g.52403482G=CA1364836443BAP1c.1663C= (p.Pro555=)
c.1609C= (p.Pro537=)
n.70C=
c.119+319C=
c.166C= (p.Pro56=)
3g.52403482G>TCA2436759BAP1c.1663C>A (p.Pro555Thr)
c.1609C>A (p.Pro537Thr)
n.70C>A
c.119+319C>A
c.166C>A (p.Pro56Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403483A>CCA433885901BAP1c.1662T>G (p.Gly554=)
c.1608T>G (p.Gly536=)
n.69T>G
c.119+318T>G
c.165T>G (p.Gly55=)
3g.52403483A>GCA433885898BAP1c.1662T>C (p.Gly554=)
c.1608T>C (p.Gly536=)
n.69T>C
c.119+318T>C
c.165T>C (p.Gly55=)
3g.52403483A>TCA433885899BAP1c.1662T>A (p.Gly554=)
c.1608T>A (p.Gly536=)
n.69T>A
c.119+318T>A
c.165T>A (p.Gly55=)
3g.52403484C>ACA353100055BAP1c.1661G>T (p.Gly554Val)
c.1607G>T (p.Gly536Val)
n.68G>T
c.119+317G>T
c.164G>T (p.Gly55Val)
 ClinVar dbSNP
3g.52403484C=CA1364836447BAP1c.1661G= (p.Gly554=)
c.1607G= (p.Gly536=)
n.68G=
c.119+317G=
c.164G= (p.Gly55=)
3g.52403484C>GCA353100056BAP1c.1661G>C (p.Gly554Ala)
c.1607G>C (p.Gly536Ala)
n.68G>C
c.119+317G>C
c.164G>C (p.Gly55Ala)
 ClinVar dbSNP
3g.52403484C>TCA353100059BAP1c.1661G>A (p.Gly554Asp)
c.1607G>A (p.Gly536Asp)
n.68G>A
c.119+317G>A
c.164G>A (p.Gly55Asp)
 dbSNP
3g.52403486delCA645529902BAP1c.1661del (p.Gly554ValfsTer17)
c.1607del (p.Gly536ValfsTer17)
n.68del
c.119+317del
c.164del (p.Gly55ValfsTer17)
 ClinVar dbSNP COSMIC
3g.52403485C>ACA353100065BAP1c.1660G>T (p.Gly554Cys)
c.1606G>T (p.Gly536Cys)
n.67G>T
c.119+316G>T
c.163G>T (p.Gly55Cys)
 dbSNP
3g.52403485C=CA1364836451BAP1c.1660G= (p.Gly554=)
c.1606G= (p.Gly536=)
n.67G=
c.119+316G=
c.163G= (p.Gly55=)
3g.52403485C>GCA353100064BAP1c.1660G>C (p.Gly554Arg)
c.1606G>C (p.Gly536Arg)
n.67G>C
c.119+316G>C
c.163G>C (p.Gly55Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403485C>TCA353100061BAP1c.1660G>A (p.Gly554Ser)
c.1606G>A (p.Gly536Ser)
n.67G>A
c.119+316G>A
c.163G>A (p.Gly55Ser)
 ClinVar dbSNP
3g.52403486C>ACA433885904BAP1c.1659G>T (p.Leu553=)
c.1605G>T (p.Leu535=)
n.66G>T
c.119+315G>T
c.162G>T (p.Leu54=)
 ClinVar dbSNP
3g.52403486C=CA1364836454BAP1c.1659G= (p.Leu553=)
c.1605G= (p.Leu535=)
n.66G=
c.119+315G=
c.162G= (p.Leu54=)
3g.52403486C>GCA433885905BAP1c.1659G>C (p.Leu553=)
c.1605G>C (p.Leu535=)
n.66G>C
c.119+315G>C
c.162G>C (p.Leu54=)
 dbSNP gnomAD v2 gnomAD v4
3g.52403486C>TCA433885906BAP1c.1659G>A (p.Leu553=)
c.1605G>A (p.Leu535=)
n.66G>A
c.119+315G>A
c.162G>A (p.Leu54=)
 ClinVar
3g.52403487A>CCA353100066BAP1c.1658T>G (p.Leu553Arg)
c.1604T>G (p.Leu535Arg)
n.65T>G
c.119+314T>G
c.161T>G (p.Leu54Arg)
3g.52403487A>GCA353100068BAP1c.1658T>C (p.Leu553Pro)
c.1604T>C (p.Leu535Pro)
n.65T>C
c.119+314T>C
c.161T>C (p.Leu54Pro)
 dbSNP
3g.52403487A>TCA353100069BAP1c.1658T>A (p.Leu553Gln)
c.1604T>A (p.Leu535Gln)
n.65T>A
c.119+314T>A
c.161T>A (p.Leu54Gln)
3g.52403488G>ACA433885909BAP1c.1657C>T (p.Leu553=)
c.1603C>T (p.Leu535=)
n.64C>T
c.119+313C>T
c.160C>T (p.Leu54=)
 dbSNP
3g.52403488G>CCA353100071BAP1c.1657C>G (p.Leu553Val)
c.1603C>G (p.Leu535Val)
n.64C>G
c.119+313C>G
c.160C>G (p.Leu54Val)
 dbSNP
3g.52403488G=CA1364836459BAP1c.1657C= (p.Leu553=)
c.1603C= (p.Leu535=)
n.64C=
c.119+313C=
c.160C= (p.Leu54=)
3g.52403488G>TCA2436760BAP1c.1657C>A (p.Leu553Met)
c.1603C>A (p.Leu535Met)
n.64C>A
c.119+313C>A
c.160C>A (p.Leu54Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403489A=CA1364836462BAP1c.1656T= (p.Asp552=)
c.1602T= (p.Asp534=)
n.63T=
c.119+312T=
c.159T= (p.Asp53=)
3g.52403489A>CCA353100075BAP1c.1656T>G (p.Asp552Glu)
c.1602T>G (p.Asp534Glu)
n.63T>G
c.119+312T>G
c.159T>G (p.Asp53Glu)
 dbSNP
3g.52403489A>GCA2436761BAP1c.1656T>C (p.Asp552=)
c.1602T>C (p.Asp534=)
n.63T>C
c.119+312T>C
c.159T>C (p.Asp53=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403489A>TCA353100077BAP1c.1656T>A (p.Asp552Glu)
c.1602T>A (p.Asp534Glu)
n.63T>A
c.119+312T>A
c.159T>A (p.Asp53Glu)
 ClinVar dbSNP
3g.52403490T>ACA353100079BAP1c.1655A>T (p.Asp552Val)
c.1601A>T (p.Asp534Val)
n.62A>T
c.119+311A>T
c.158A>T (p.Asp53Val)
 dbSNP
3g.52403490T>CCA353100080BAP1c.1655A>G (p.Asp552Gly)
c.1601A>G (p.Asp534Gly)
n.62A>G
c.119+311A>G
c.158A>G (p.Asp53Gly)
3g.52403490T>GCA353100083BAP1c.1655A>C (p.Asp552Ala)
c.1601A>C (p.Asp534Ala)
n.62A>C
c.119+311A>C
c.158A>C (p.Asp53Ala)
 dbSNP
3g.52403490_52403491delinsTCCA1364836464BAP1c.1654_1655delinsGA (p.Asp552=)
c.1600_1601delinsGA (p.Asp534=)
n.61_62delinsGA
c.119+310_119+311delinsGA
c.157_158delinsGA (p.Asp53=)
3g.52403491delCA143986BAP1c.1654del (p.Asp552IlefsTer19)
c.1600del (p.Asp534IlefsTer19)
n.61del
c.119+310del
c.157del (p.Asp53IlefsTer19)
 ClinVar dbSNP
3g.52403491C>ACA353100086BAP1c.1654G>T (p.Asp552Tyr)
c.1600G>T (p.Asp534Tyr)
n.61G>T
c.119+310G>T
c.157G>T (p.Asp53Tyr)
 dbSNP
3g.52403491C>GCA353100085BAP1c.1654G>C (p.Asp552His)
c.1600G>C (p.Asp534His)
n.61G>C
c.119+310G>C
c.157G>C (p.Asp53His)
 dbSNP
3g.52403491C>TCA353100084BAP1c.1654G>A (p.Asp552Asn)
c.1600G>A (p.Asp534Asn)
n.61G>A
c.119+310G>A
c.157G>A (p.Asp53Asn)
 ClinVar dbSNP
3g.52403492A>CCA433885916BAP1c.1653T>G (p.Arg551=)
c.1599T>G (p.Arg533=)
n.60T>G
c.119+309T>G
c.156T>G (p.Arg52=)
 dbSNP
3g.52403492A>GCA433885918BAP1c.1653T>C (p.Arg551=)
c.1599T>C (p.Arg533=)
n.60T>C
c.119+309T>C
c.156T>C (p.Arg52=)
 ClinVar dbSNP
3g.52403492A>TCA433885914BAP1c.1653T>A (p.Arg551=)
c.1599T>A (p.Arg533=)
n.60T>A
c.119+309T>A
c.156T>A (p.Arg52=)
 dbSNP
3g.52403493C>ACA353100087BAP1c.1652G>T (p.Arg551Leu)
c.1598G>T (p.Arg533Leu)
n.59G>T
c.119+308G>T
c.155G>T (p.Arg52Leu)
 dbSNP gnomAD v4
3g.52403493C=CA1364836471BAP1c.1652G= (p.Arg551=)
c.1598G= (p.Arg533=)
n.59G=
c.119+308G=
c.155G= (p.Arg52=)
3g.52403493C>GCA353100088BAP1c.1652G>C (p.Arg551Pro)
c.1598G>C (p.Arg533Pro)
n.59G>C
c.119+308G>C
c.155G>C (p.Arg52Pro)
 dbSNP
3g.52403493C>TCA2436762BAP1c.1652G>A (p.Arg551His)
c.1598G>A (p.Arg533His)
n.59G>A
c.119+308G>A
c.155G>A (p.Arg52His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.52403493delinsGATCA2697556700BAP1c.1652delinsATC (p.Arg551HisfsTer21)
c.1598delinsATC (p.Arg533HisfsTer21)
n.59delinsATC
c.119+308delinsATC
c.155delinsATC (p.Arg52HisfsTer21)
 ClinVar
3g.52403494G>ACA2436763BAP1c.1651C>T (p.Arg551Cys)
c.1597C>T (p.Arg533Cys)
n.58C>T
c.119+307C>T
c.154C>T (p.Arg52Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403494G>CCA74740641BAP1c.1651C>G (p.Arg551Gly)
c.1597C>G (p.Arg533Gly)
n.58C>G
c.119+307C>G
c.154C>G (p.Arg52Gly)
 ClinVar dbSNP gnomAD v4
3g.52403494G=CA1364836478BAP1c.1651C= (p.Arg551=)
c.1597C= (p.Arg533=)
n.58C=
c.119+307C=
c.154C= (p.Arg52=)
3g.52403494G>TCA353100089BAP1c.1651C>A (p.Arg551Ser)
c.1597C>A (p.Arg533Ser)
n.58C>A
c.119+307C>A
c.154C>A (p.Arg52Ser)
 gnomAD v4
3g.52403495G>ACA433885929BAP1c.1650C>T (p.Val550=)
c.1596C>T (p.Val532=)
n.57C>T
c.119+306C>T
c.153C>T (p.Val51=)
 dbSNP
3g.52403495G>CCA433885926BAP1c.1650C>G (p.Val550=)
c.1596C>G (p.Val532=)
n.57C>G
c.119+306C>G
c.153C>G (p.Val51=)
 dbSNP
3g.52403495G>TCA433885928BAP1c.1650C>A (p.Val550=)
c.1596C>A (p.Val532=)
n.57C>A
c.119+306C>A
c.153C>A (p.Val51=)
 ClinVar dbSNP
3g.52403496delCA2580070227BAP1c.1649del (p.Val550AlafsTer21)
c.1595del (p.Val532AlafsTer21)
n.56del
c.119+305del
c.152del (p.Val51AlafsTer21)
 ClinVar
3g.52403496A=CA1364836488BAP1c.1649T= (p.Val550=)
c.1595T= (p.Val532=)
n.56T=
c.119+305T=
c.152T= (p.Val51=)
3g.52403496A>CCA353100091BAP1c.1649T>G (p.Val550Gly)
c.1595T>G (p.Val532Gly)
n.56T>G
c.119+305T>G
c.152T>G (p.Val51Gly)
 ClinVar dbSNP
3g.52403496A>GCA353100092BAP1c.1649T>C (p.Val550Ala)
c.1595T>C (p.Val532Ala)
n.56T>C
c.119+305T>C
c.152T>C (p.Val51Ala)
 dbSNP
3g.52403496A>TCA353100093BAP1c.1649T>A (p.Val550Asp)
c.1595T>A (p.Val532Asp)
n.56T>A
c.119+305T>A
c.152T>A (p.Val51Asp)
 dbSNP
3g.52403497C>ACA353100094BAP1c.1648G>T (p.Val550Phe)
c.1594G>T (p.Val532Phe)
n.55G>T
c.119+304G>T
c.151G>T (p.Val51Phe)
3g.52403497C>GCA353100095BAP1c.1648G>C (p.Val550Leu)
c.1594G>C (p.Val532Leu)
n.55G>C
c.119+304G>C
c.151G>C (p.Val51Leu)
 dbSNP
3g.52403497C>TCA353100096BAP1c.1648G>A (p.Val550Ile)
c.1594G>A (p.Val532Ile)
n.55G>A
c.119+304G>A
c.151G>A (p.Val51Ile)
 ClinVar dbSNP gnomAD v4
3g.52403498delCA2586972739BAP1c.1647del (p.Val550SerfsTer21)
c.1593del (p.Val532SerfsTer21)
n.54del
c.119+303del
c.150del (p.Val51SerfsTer21)
3g.52403498A>CCA433885937BAP1c.1647T>G (p.Ala549=)
c.1593T>G (p.Ala531=)
n.54T>G
c.119+303T>G
c.150T>G (p.Ala50=)
3g.52403498A>GCA433885939BAP1c.1647T>C (p.Ala549=)
c.1593T>C (p.Ala531=)
n.54T>C
c.119+303T>C
c.150T>C (p.Ala50=)
3g.52403498A>TCA433885938BAP1c.1647T>A (p.Ala549=)
c.1593T>A (p.Ala531=)
n.54T>A
c.119+303T>A
c.150T>A (p.Ala50=)
 ClinVar dbSNP
3g.52403499G>ACA353100101BAP1c.1646C>T (p.Ala549Val)
c.1592C>T (p.Ala531Val)
n.53C>T
c.119+302C>T
c.149C>T (p.Ala50Val)
 ClinVar dbSNP
3g.52403499G>CCA353100100BAP1c.1646C>G (p.Ala549Gly)
c.1592C>G (p.Ala531Gly)
n.53C>G
c.119+302C>G
c.149C>G (p.Ala50Gly)
 dbSNP
3g.52403499G=CA1364836494BAP1c.1646C= (p.Ala549=)
c.1592C= (p.Ala531=)
n.53C=
c.119+302C=
c.149C= (p.Ala50=)
3g.52403499G>TCA353100098BAP1c.1646C>A (p.Ala549Asp)
c.1592C>A (p.Ala531Asp)
n.53C>A
c.119+302C>A
c.149C>A (p.Ala50Asp)
3g.52403500C>ACA353100102BAP1c.1645G>T (p.Ala549Ser)
c.1591G>T (p.Ala531Ser)
n.52G>T
c.119+301G>T
c.148G>T (p.Ala50Ser)
3g.52403500C>GCA353100104BAP1c.1645G>C (p.Ala549Pro)
c.1591G>C (p.Ala531Pro)
n.52G>C
c.119+301G>C
c.148G>C (p.Ala50Pro)
 dbSNP
3g.52403500C>TCA353100103BAP1c.1645G>A (p.Ala549Thr)
c.1591G>A (p.Ala531Thr)
n.52G>A
c.119+301G>A
c.148G>A (p.Ala50Thr)
 ClinVar dbSNP gnomAD v4
3g.52403501A>CCA433885943BAP1c.1644T>G (p.Arg548=)
c.1590T>G (p.Arg530=)
n.51T>G
c.119+300T>G
c.147T>G (p.Arg49=)
 dbSNP
3g.52403501A>GCA433885944BAP1c.1644T>C (p.Arg548=)
c.1590T>C (p.Arg530=)
n.51T>C
c.119+300T>C
c.147T>C (p.Arg49=)
 ClinVar dbSNP
3g.52403501A>TCA433885945BAP1c.1644T>A (p.Arg548=)
c.1590T>A (p.Arg530=)
n.51T>A
c.119+300T>A
c.147T>A (p.Arg49=)
 ClinVar dbSNP
3g.52403502C>ACA353100106BAP1c.1643G>T (p.Arg548Leu)
c.1589G>T (p.Arg530Leu)
n.50G>T
c.119+299G>T
c.146G>T (p.Arg49Leu)
 ClinVar dbSNP gnomAD v4
3g.52403502C=CA1364836501BAP1c.1643G= (p.Arg548=)
c.1589G= (p.Arg530=)
n.50G=
c.119+299G=
c.146G= (p.Arg49=)
3g.52403502C>GCA353100108BAP1c.1643G>C (p.Arg548Pro)
c.1589G>C (p.Arg530Pro)
n.50G>C
c.119+299G>C
c.146G>C (p.Arg49Pro)
 dbSNP
3g.52403502C>TCA2436764BAP1c.1643G>A (p.Arg548His)
c.1589G>A (p.Arg530His)
n.50G>A
c.119+299G>A
c.146G>A (p.Arg49His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403503G>ACA2436765BAP1c.1642C>T (p.Arg548Cys)
c.1588C>T (p.Arg530Cys)
n.49C>T
c.119+298C>T
c.145C>T (p.Arg49Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.52403503G>CCA353100113BAP1c.1642C>G (p.Arg548Gly)
c.1588C>G (p.Arg530Gly)
n.49C>G
c.119+298C>G
c.145C>G (p.Arg49Gly)
 ClinVar dbSNP gnomAD v4
3g.52403503G=CA1364836508BAP1c.1642C= (p.Arg548=)
c.1588C= (p.Arg530=)
n.49C=
c.119+298C=
c.145C= (p.Arg49=)
3g.52403503G>TCA353100111BAP1c.1642C>A (p.Arg548Ser)
c.1588C>A (p.Arg530Ser)
n.49C>A
c.119+298C>A
c.145C>A (p.Arg49Ser)
 dbSNP
3g.52403504G>ACA433885948BAP1c.1641C>T (p.Asn547=)
c.1587C>T (p.Asn529=)
n.48C>T
c.119+297C>T
c.144C>T (p.Asn48=)
 ClinVar dbSNP
3g.52403504G>CCA353100114BAP1c.1641C>G (p.Asn547Lys)
c.1587C>G (p.Asn529Lys)
n.48C>G
c.119+297C>G
c.144C>G (p.Asn48Lys)
 dbSNP
3g.52403504G=CA1364836513BAP1c.1641C= (p.Asn547=)
c.1587C= (p.Asn529=)
n.48C=
c.119+297C=
c.144C= (p.Asn48=)
3g.52403504G>TCA353100116BAP1c.1641C>A (p.Asn547Lys)
c.1587C>A (p.Asn529Lys)
n.48C>A
c.119+297C>A
c.144C>A (p.Asn48Lys)
3g.52403505T>ACA353100117BAP1c.1640A>T (p.Asn547Ile)
c.1586A>T (p.Asn529Ile)
n.47A>T
c.119+296A>T
c.143A>T (p.Asn48Ile)
 dbSNP
3g.52403505T>CCA353100119BAP1c.1640A>G (p.Asn547Ser)
c.1586A>G (p.Asn529Ser)
n.47A>G
c.119+296A>G
c.143A>G (p.Asn48Ser)
 dbSNP gnomAD v4
3g.52403505T>GCA353100121BAP1c.1640A>C (p.Asn547Thr)
c.1586A>C (p.Asn529Thr)
n.47A>C
c.119+296A>C
c.143A>C (p.Asn48Thr)
 dbSNP
3g.52403506T>ACA353100123BAP1c.1639A>T (p.Asn547Tyr)
c.1585A>T (p.Asn529Tyr)
n.46A>T
c.119+295A>T
c.142A>T (p.Asn48Tyr)
 dbSNP
3g.52403506T>CCA353100125BAP1c.1639A>G (p.Asn547Asp)
c.1585A>G (p.Asn529Asp)
n.46A>G
c.119+295A>G
c.142A>G (p.Asn48Asp)
3g.52403506T>GCA353100128BAP1c.1639A>C (p.Asn547His)
c.1585A>C (p.Asn529His)
n.46A>C
c.119+295A>C
c.142A>C (p.Asn48His)
 dbSNP
3g.52403507G>ACA433885952BAP1c.1638C>T (p.Tyr546=)
c.1584C>T (p.Tyr528=)
n.45C>T
c.119+294C>T
c.141C>T (p.Tyr47=)
 dbSNP
3g.52403507G>CCA353100129BAP1c.1638C>G (p.Tyr546Ter)
c.1584C>G (p.Tyr528Ter)
n.45C>G
c.119+294C>G
c.141C>G (p.Tyr47Ter)
 dbSNP
3g.52403507G>TCA353100132BAP1c.1638C>A (p.Tyr546Ter)
c.1584C>A (p.Tyr528Ter)
n.45C>A
c.119+294C>A
c.141C>A (p.Tyr47Ter)
3g.52403508T>ACA353100140BAP1c.1637A>T (p.Tyr546Phe)
c.1583A>T (p.Tyr528Phe)
n.44A>T
c.119+293A>T
c.140A>T (p.Tyr47Phe)
 ClinVar dbSNP gnomAD v4
3g.52403508T>CCA353100137BAP1c.1637A>G (p.Tyr546Cys)
c.1583A>G (p.Tyr528Cys)
n.44A>G
c.119+293A>G
c.140A>G (p.Tyr47Cys)
 dbSNP
3g.52403508T>GCA353100135BAP1c.1637A>C (p.Tyr546Ser)
c.1583A>C (p.Tyr528Ser)
n.44A>C
c.119+293A>C
c.140A>C (p.Tyr47Ser)
 dbSNP
3g.52403508T=CA1364836517BAP1c.1637A= (p.Tyr546=)
c.1583A= (p.Tyr528=)
n.44A=
c.119+293A=
c.140A= (p.Tyr47=)
3g.52403509A>CCA353100142BAP1c.1636T>G (p.Tyr546Asp)
c.1582T>G (p.Tyr528Asp)
n.43T>G
c.119+292T>G
c.139T>G (p.Tyr47Asp)
3g.52403509A>GCA353100144BAP1c.1636T>C (p.Tyr546His)
c.1582T>C (p.Tyr528His)
n.43T>C
c.119+292T>C
c.139T>C (p.Tyr47His)
 dbSNP gnomAD v4
3g.52403509A>TCA353100145BAP1c.1636T>A (p.Tyr546Asn)
c.1582T>A (p.Tyr528Asn)
n.43T>A
c.119+292T>A
c.139T>A (p.Tyr47Asn)
 dbSNP
3g.52403510G>ACA433885959BAP1c.1635C>T (p.Arg545=)
c.1581C>T (p.Arg527=)
n.42C>T
c.119+291C>T
c.138C>T (p.Arg46=)
 dbSNP
3g.52403510G>CCA433885960BAP1c.1635C>G (p.Arg545=)
c.1581C>G (p.Arg527=)
n.42C>G
c.119+291C>G
c.138C>G (p.Arg46=)
 dbSNP
3g.52403510G>TCA433885962BAP1c.1635C>A (p.Arg545=)
c.1581C>A (p.Arg527=)
n.42C>A
c.119+291C>A
c.138C>A (p.Arg46=)
3g.52403511C>ACA353100148BAP1c.1634G>T (p.Arg545Leu)
c.1580G>T (p.Arg527Leu)
n.41G>T
c.119+290G>T
c.137G>T (p.Arg46Leu)
3g.52403511C=CA1364836521BAP1c.1634G= (p.Arg545=)
c.1580G= (p.Arg527=)
n.41G=
c.119+290G=
c.137G= (p.Arg46=)
3g.52403511C>GCA353100151BAP1c.1634G>C (p.Arg545Pro)
c.1580G>C (p.Arg527Pro)
n.41G>C
c.119+290G>C
c.137G>C (p.Arg46Pro)
 dbSNP
3g.52403511C>TCA2436766BAP1c.1634G>A (p.Arg545His)
c.1580G>A (p.Arg527His)
n.41G>A
c.119+290G>A
c.137G>A (p.Arg46His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403512G>ACA2436767BAP1c.1633C>T (p.Arg545Cys)
c.1579C>T (p.Arg527Cys)
n.40C>T
c.119+289C>T
c.136C>T (p.Arg46Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403512G>CCA353100169BAP1c.1633C>G (p.Arg545Gly)
c.1579C>G (p.Arg527Gly)
n.40C>G
c.119+289C>G
c.136C>G (p.Arg46Gly)
 dbSNP
3g.52403512G=CA1364836525BAP1c.1633C= (p.Arg545=)
c.1579C= (p.Arg527=)
n.40C=
c.119+289C=
c.136C= (p.Arg46=)
3g.52403512G>TCA353100174BAP1c.1633C>A (p.Arg545Ser)
c.1579C>A (p.Arg527Ser)
n.40C>A
c.119+289C>A
c.136C>A (p.Arg46Ser)
 gnomAD v4
3g.52403513T>ACA433885965BAP1c.1632A>T (p.Ile544=)
c.1578A>T (p.Ile526=)
n.39A>T
c.119+288A>T
c.135A>T (p.Ile45=)
 dbSNP
3g.52403513T>CCA353100177BAP1c.1632A>G (p.Ile544Met)
c.1578A>G (p.Ile526Met)
n.39A>G
c.119+288A>G
c.135A>G (p.Ile45Met)
 dbSNP
3g.52403513T>GCA433885968BAP1c.1632A>C (p.Ile544=)
c.1578A>C (p.Ile526=)
n.39A>C
c.119+288A>C
c.135A>C (p.Ile45=)
 dbSNP
3g.52403514A>CCA353100189BAP1c.1631T>G (p.Ile544Arg)
c.1577T>G (p.Ile526Arg)
n.38T>G
c.119+287T>G
c.134T>G (p.Ile45Arg)
 ClinVar
3g.52403514A>GCA353100186BAP1c.1631T>C (p.Ile544Thr)
c.1577T>C (p.Ile526Thr)
n.38T>C
c.119+287T>C
c.134T>C (p.Ile45Thr)
3g.52403514A>TCA353100185BAP1c.1631T>A (p.Ile544Lys)
c.1577T>A (p.Ile526Lys)
n.38T>A
c.119+287T>A
c.134T>A (p.Ile45Lys)
 ClinVar dbSNP
3g.52403515T>ACA353100192BAP1c.1630A>T (p.Ile544Leu)
c.1576A>T (p.Ile526Leu)
n.37A>T
c.119+286A>T
c.133A>T (p.Ile45Leu)
 dbSNP
3g.52403515T>CCA353100193BAP1c.1630A>G (p.Ile544Val)
c.1576A>G (p.Ile526Val)
n.37A>G
c.119+286A>G
c.133A>G (p.Ile45Val)
 ClinVar dbSNP gnomAD v4
3g.52403515T>GCA353100194BAP1c.1630A>C (p.Ile544Leu)
c.1576A>C (p.Ile526Leu)
n.37A>C
c.119+286A>C
c.133A>C (p.Ile45Leu)
3g.52403515T=CA1364836528BAP1c.1630A= (p.Ile544=)
c.1576A= (p.Ile526=)
n.37A=
c.119+286A=
c.133A= (p.Ile45=)
3g.52403516G>ACA2436768BAP1c.1629C>T (p.Cys543=)
c.1575C>T (p.Cys525=)
n.36C>T
c.119+285C>T
c.132C>T (p.Cys44=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403516G>CCA353100196BAP1c.1629C>G (p.Cys543Trp)
c.1575C>G (p.Cys525Trp)
n.36C>G
c.119+285C>G
c.132C>G (p.Cys44Trp)
 dbSNP
3g.52403516G=CA1364836531BAP1c.1629C= (p.Cys543=)
c.1575C= (p.Cys525=)
n.36C=
c.119+285C=
c.132C= (p.Cys44=)
3g.52403516G>TCA353100208BAP1c.1629C>A (p.Cys543Ter)
c.1575C>A (p.Cys525Ter)
n.36C>A
c.119+285C>A
c.132C>A (p.Cys44Ter)
3g.52403517C>ACA353100213BAP1c.1628G>T (p.Cys543Phe)
c.1574G>T (p.Cys525Phe)
n.35G>T
c.119+284G>T
c.131G>T (p.Cys44Phe)
 dbSNP
3g.52403517C=CA1364836534BAP1c.1628G= (p.Cys543=)
c.1574G= (p.Cys525=)
n.35G=
c.119+284G=
c.131G= (p.Cys44=)
3g.52403517C>GCA353100216BAP1c.1628G>C (p.Cys543Ser)
c.1574G>C (p.Cys525Ser)
n.35G>C
c.119+284G>C
c.131G>C (p.Cys44Ser)
 dbSNP
3g.52403517C>TCA16611424BAP1c.1628G>A (p.Cys543Tyr)
c.1574G>A (p.Cys525Tyr)
n.35G>A
c.119+284G>A
c.131G>A (p.Cys44Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403518A>CCA353100223BAP1c.1627T>G (p.Cys543Gly)
c.1573T>G (p.Cys525Gly)
n.34T>G
c.119+283T>G
c.130T>G (p.Cys44Gly)
 ClinVar dbSNP
3g.52403518A>GCA353100231BAP1c.1627T>C (p.Cys543Arg)
c.1573T>C (p.Cys525Arg)
n.34T>C
c.119+283T>C
c.130T>C (p.Cys44Arg)
 dbSNP
3g.52403518A>TCA353100234BAP1c.1627T>A (p.Cys543Ser)
c.1573T>A (p.Cys525Ser)
n.34T>A
c.119+283T>A
c.130T>A (p.Cys44Ser)
 dbSNP
3g.52403519G>ACA433885979BAP1c.1626C>T (p.Asp542=)
c.1572C>T (p.Asp524=)
n.33C>T
c.119+282C>T
c.129C>T (p.Asp43=)
 ClinVar dbSNP
3g.52403519G>CCA353100241BAP1c.1626C>G (p.Asp542Glu)
c.1572C>G (p.Asp524Glu)
n.33C>G
c.119+282C>G
c.129C>G (p.Asp43Glu)
 dbSNP
3g.52403519G=CA1364836537BAP1c.1626C= (p.Asp542=)
c.1572C= (p.Asp524=)
n.33C=
c.119+282C=
c.129C= (p.Asp43=)
3g.52403519G>TCA353100237BAP1c.1626C>A (p.Asp542Glu)
c.1572C>A (p.Asp524Glu)
n.33C>A
c.119+282C>A
c.129C>A (p.Asp43Glu)
3g.52403520T>ACA353100244BAP1c.1625A>T (p.Asp542Val)
c.1571A>T (p.Asp524Val)
n.32A>T
c.119+281A>T
c.128A>T (p.Asp43Val)
 dbSNP gnomAD v4
3g.52403520T>CCA353100247BAP1c.1625A>G (p.Asp542Gly)
c.1571A>G (p.Asp524Gly)
n.32A>G
c.119+281A>G
c.128A>G (p.Asp43Gly)
 dbSNP
3g.52403520T>GCA353100251BAP1c.1625A>C (p.Asp542Ala)
c.1571A>C (p.Asp524Ala)
n.32A>C
c.119+281A>C
c.128A>C (p.Asp43Ala)
 dbSNP
3g.52403521C>ACA353100253BAP1c.1624G>T (p.Asp542Tyr)
c.1570G>T (p.Asp524Tyr)
n.31G>T
c.119+280G>T
c.127G>T (p.Asp43Tyr)
3g.52403521C>GCA353100255BAP1c.1624G>C (p.Asp542His)
c.1570G>C (p.Asp524His)
n.31G>C
c.119+280G>C
c.127G>C (p.Asp43His)
 dbSNP
3g.52403521C>TCA353100258BAP1c.1624G>A (p.Asp542Asn)
c.1570G>A (p.Asp524Asn)
n.31G>A
c.119+280G>A
c.127G>A (p.Asp43Asn)
 dbSNP
3g.52403522A>CCA433885984BAP1c.1623T>G (p.Val541=)
c.1569T>G (p.Val523=)
n.30T>G
c.119+279T>G
c.126T>G (p.Val42=)
3g.52403522A>GCA433885985BAP1c.1623T>C (p.Val541=)
c.1569T>C (p.Val523=)
n.30T>C
c.119+279T>C
c.126T>C (p.Val42=)
3g.52403522A>TCA433885986BAP1c.1623T>A (p.Val541=)
c.1569T>A (p.Val523=)
n.30T>A
c.119+279T>A
c.126T>A (p.Val42=)
3g.52403523A>CCA353100259BAP1c.1622T>G (p.Val541Gly)
c.1568T>G (p.Val523Gly)
n.29T>G
c.119+278T>G
c.125T>G (p.Val42Gly)
 dbSNP
3g.52403523A>GCA353100261BAP1c.1622T>C (p.Val541Ala)
c.1568T>C (p.Val523Ala)
n.29T>C
c.119+278T>C
c.125T>C (p.Val42Ala)
 ClinVar dbSNP gnomAD v4
3g.52403523A>TCA353100262BAP1c.1622T>A (p.Val541Asp)
c.1568T>A (p.Val523Asp)
n.29T>A
c.119+278T>A
c.125T>A (p.Val42Asp)
 dbSNP
3g.52403524delCA2586972740BAP1c.1621del (p.Val541LeufsTer30)
c.1567del (p.Val523LeufsTer30)
n.28del
c.119+277del
c.124del (p.Val42LeufsTer30)
3g.52403524C>ACA353100265BAP1c.1621G>T (p.Val541Phe)
c.1567G>T (p.Val523Phe)
n.28G>T
c.119+277G>T
c.124G>T (p.Val42Phe)
 ClinVar dbSNP
3g.52403524C=CA1364836540BAP1c.1621G= (p.Val541=)
c.1567G= (p.Val523=)
n.28G=
c.119+277G=
c.124G= (p.Val42=)
3g.52403524C>GCA353100267BAP1c.1621G>C (p.Val541Leu)
c.1567G>C (p.Val523Leu)
n.28G>C
c.119+277G>C
c.124G>C (p.Val42Leu)
 dbSNP
3g.52403524C>TCA353100272BAP1c.1621G>A (p.Val541Ile)
c.1567G>A (p.Val523Ile)
n.28G>A
c.119+277G>A
c.124G>A (p.Val42Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403525A>CCA433885998BAP1c.1620T>G (p.Arg540=)
c.1566T>G (p.Arg522=)
n.27T>G
c.119+276T>G
c.123T>G (p.Arg41=)
 dbSNP
3g.52403525A>GCA433885997BAP1c.1620T>C (p.Arg540=)
c.1566T>C (p.Arg522=)
n.27T>C
c.119+276T>C
c.123T>C (p.Arg41=)
 dbSNP gnomAD v4
3g.52403525A>TCA433885993BAP1c.1620T>A (p.Arg540=)
c.1566T>A (p.Arg522=)
n.27T>A
c.119+276T>A
c.123T>A (p.Arg41=)
 dbSNP
3g.52403526C>ACA353100280BAP1c.1619G>T (p.Arg540Leu)
c.1565G>T (p.Arg522Leu)
n.26G>T
c.119+275G>T
c.122G>T (p.Arg41Leu)
 dbSNP
3g.52403526C=CA1364836542BAP1c.1619G= (p.Arg540=)
c.1565G= (p.Arg522=)
n.26G=
c.119+275G=
c.122G= (p.Arg41=)
3g.52403526C>GCA353100281BAP1c.1619G>C (p.Arg540Pro)
c.1565G>C (p.Arg522Pro)
n.26G>C
c.119+275G>C
c.122G>C (p.Arg41Pro)
 dbSNP
3g.52403526C>TCA2436769BAP1c.1619G>A (p.Arg540His)
c.1565G>A (p.Arg522His)
n.26G>A
c.119+275G>A
c.122G>A (p.Arg41His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.52403527G>ACA74740654BAP1c.1618C>T (p.Arg540Cys)
c.1564C>T (p.Arg522Cys)
n.25C>T
c.119+274C>T
c.121C>T (p.Arg41Cys)
 ClinVar dbSNP gnomAD v4
3g.52403527G>CCA353100285BAP1c.1618C>G (p.Arg540Gly)
c.1564C>G (p.Arg522Gly)
n.25C>G
c.119+274C>G
c.121C>G (p.Arg41Gly)
 ClinVar dbSNP
3g.52403527G=CA1364836546BAP1c.1618C= (p.Arg540=)
c.1564C= (p.Arg522=)
n.25C=
c.119+274C=
c.121C= (p.Arg41=)
3g.52403527G>TCA353100286BAP1c.1618C>A (p.Arg540Ser)
c.1564C>A (p.Arg522Ser)
n.25C>A
c.119+274C>A
c.121C>A (p.Arg41Ser)
3g.52403528C>ACA433886003BAP1c.1617G>T (p.Leu539=)
c.1563G>T (p.Leu521=)
n.24G>T
c.119+273G>T
c.120G>T (p.Leu40=)
 dbSNP
3g.52403528C>GCA433886004BAP1c.1617G>C (p.Leu539=)
c.1563G>C (p.Leu521=)
n.24G>C
c.119+273G>C
c.120G>C (p.Leu40=)
 dbSNP
3g.52403528C>TCA433886008BAP1c.1617G>A (p.Leu539=)
c.1563G>A (p.Leu521=)
n.24G>A
c.119+273G>A
c.120G>A (p.Leu40=)
 dbSNP
3g.52403529A=CA1364836549BAP1c.1616T= (p.Leu539=)
c.1562T= (p.Leu521=)
n.23T=
c.119+272T=
c.119T= (p.Leu40=)
3g.52403529A>CCA353100287BAP1c.1616T>G (p.Leu539Arg)
c.1562T>G (p.Leu521Arg)
n.23T>G
c.119+272T>G
c.119T>G (p.Leu40Arg)
 ClinVar dbSNP
3g.52403529A>GCA353100288BAP1c.1616T>C (p.Leu539Pro)
c.1562T>C (p.Leu521Pro)
n.23T>C
c.119+272T>C
c.119T>C (p.Leu40Pro)
 ClinVar dbSNP
3g.52403529A>TCA353100289BAP1c.1616T>A (p.Leu539Gln)
c.1562T>A (p.Leu521Gln)
n.23T>A
c.119+272T>A
c.119T>A (p.Leu40Gln)
3g.52403530G>ACA433886012BAP1c.1615C>T (p.Leu539=)
c.1561C>T (p.Leu521=)
n.22C>T
c.119+271C>T
c.118C>T (p.Leu40=)
 dbSNP gnomAD v4
3g.52403530G>CCA353100293BAP1c.1615C>G (p.Leu539Val)
c.1561C>G (p.Leu521Val)
n.22C>G
c.119+271C>G
c.118C>G (p.Leu40Val)
 ClinVar dbSNP
3g.52403530G>TCA353100294BAP1c.1615C>A (p.Leu539Met)
c.1561C>A (p.Leu521Met)
n.22C>A
c.119+271C>A
c.118C>A (p.Leu40Met)
3g.52403531C>ACA433886013BAP1c.1614G>T (p.Leu538=)
c.1560G>T (p.Leu520=)
n.21G>T
c.119+270G>T
c.117G>T (p.Leu39=)
 dbSNP
3g.52403531C=CA1364836552BAP1c.1614G= (p.Leu538=)
c.1560G= (p.Leu520=)
n.21G=
c.119+270G=
c.117G= (p.Leu39=)
3g.52403531C>GCA433886016BAP1c.1614G>C (p.Leu538=)
c.1560G>C (p.Leu520=)
n.21G>C
c.119+270G>C
c.117G>C (p.Leu39=)
 dbSNP
3g.52403531C>TCA433886014BAP1c.1614G>A (p.Leu538=)
c.1560G>A (p.Leu520=)
n.21G>A
c.119+270G>A
c.117G>A (p.Leu39=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403532delCA2739292489BAP1c.1613del (p.Leu538ArgfsTer?)
c.1559del (p.Leu520ArgfsTer?)
n.20del
c.119+269del
c.116del (p.Leu39ArgfsTer?)
3g.52403532A>CCA353100297BAP1c.1613T>G (p.Leu538Arg)
c.1559T>G (p.Leu520Arg)
n.20T>G
c.119+269T>G
c.116T>G (p.Leu39Arg)
3g.52403532A>GCA353100299BAP1c.1613T>C (p.Leu538Pro)
c.1559T>C (p.Leu520Pro)
n.20T>C
c.119+269T>C
c.116T>C (p.Leu39Pro)
3g.52403532A>TCA353100305BAP1c.1613T>A (p.Leu538Gln)
c.1559T>A (p.Leu520Gln)
n.20T>A
c.119+269T>A
c.116T>A (p.Leu39Gln)
 dbSNP
3g.52403533G>ACA433886022BAP1c.1612C>T (p.Leu538=)
c.1558C>T (p.Leu520=)
n.19C>T
c.119+268C>T
c.115C>T (p.Leu39=)
 dbSNP
3g.52403533G>CCA353100306BAP1c.1612C>G (p.Leu538Val)
c.1558C>G (p.Leu520Val)
n.19C>G
c.119+268C>G
c.115C>G (p.Leu39Val)
 dbSNP
3g.52403533G>TCA353100308BAP1c.1612C>A (p.Leu538Met)
c.1558C>A (p.Leu520Met)
n.19C>A
c.119+268C>A
c.115C>A (p.Leu39Met)
3g.52403534G>ACA2436770BAP1c.1611C>T (p.Ser537=)
c.1557C>T (p.Ser519=)
n.18C>T
c.119+267C>T
c.114C>T (p.Ser38=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403534G>CCA353100312BAP1c.1611C>G (p.Ser537Arg)
c.1557C>G (p.Ser519Arg)
n.18C>G
c.119+267C>G
c.114C>G (p.Ser38Arg)
 dbSNP
3g.52403534G=CA1364836555BAP1c.1611C= (p.Ser537=)
c.1557C= (p.Ser519=)
n.18C=
c.119+267C=
c.114C= (p.Ser38=)
3g.52403534G>TCA353100313BAP1c.1611C>A (p.Ser537Arg)
c.1557C>A (p.Ser519Arg)
n.18C>A
c.119+267C>A
c.114C>A (p.Ser38Arg)
3g.52403535C>ACA353100314BAP1c.1610G>T (p.Ser537Ile)
c.1556G>T (p.Ser519Ile)
n.17G>T
c.119+266G>T
c.113G>T (p.Ser38Ile)
 dbSNP
3g.52403535C=CA1364836557BAP1c.1610G= (p.Ser537=)
c.1556G= (p.Ser519=)
n.17G=
c.119+266G=
c.113G= (p.Ser38=)
3g.52403535C>GCA353100317BAP1c.1610G>C (p.Ser537Thr)
c.1556G>C (p.Ser519Thr)
n.17G>C
c.119+266G>C
c.113G>C (p.Ser38Thr)
 dbSNP
3g.52403535C>TCA353100318BAP1c.1610G>A (p.Ser537Asn)
c.1556G>A (p.Ser519Asn)
n.17G>A
c.119+266G>A
c.113G>A (p.Ser38Asn)
 ClinVar dbSNP gnomAD v4
3g.52403536T>ACA353100336BAP1c.1609A>T (p.Ser537Cys)
c.1555A>T (p.Ser519Cys)
n.16A>T
c.119+265A>T
c.112A>T (p.Ser38Cys)
 dbSNP
3g.52403536T>CCA2436771BAP1c.1609A>G (p.Ser537Gly)
c.1555A>G (p.Ser519Gly)
n.16A>G
c.119+265A>G
c.112A>G (p.Ser38Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403536T>GCA353100351BAP1c.1609A>C (p.Ser537Arg)
c.1555A>C (p.Ser519Arg)
n.16A>C
c.119+265A>C
c.112A>C (p.Ser38Arg)
 ClinVar
3g.52403536T=CA1364836559BAP1c.1609A= (p.Ser537=)
c.1555A= (p.Ser519=)
n.16A=
c.119+265A=
c.112A= (p.Ser38=)
3g.52403537G>ACA433886029BAP1c.1608C>T (p.Asp536=)
c.1554C>T (p.Asp518=)
n.15C>T
c.119+264C>T
c.111C>T (p.Asp37=)
 dbSNP gnomAD v4
3g.52403537G>CCA353100354BAP1c.1608C>G (p.Asp536Glu)
c.1554C>G (p.Asp518Glu)
n.15C>G
c.119+264C>G
c.111C>G (p.Asp37Glu)
 dbSNP
3g.52403537G>TCA353100364BAP1c.1608C>A (p.Asp536Glu)
c.1554C>A (p.Asp518Glu)
n.15C>A
c.119+264C>A
c.111C>A (p.Asp37Glu)
 ClinVar
3g.52403538T>ACA353100369BAP1c.1607A>T (p.Asp536Val)
c.1553A>T (p.Asp518Val)
n.14A>T
c.119+263A>T
c.110A>T (p.Asp37Val)
 dbSNP
3g.52403538T>CCA353100370BAP1c.1607A>G (p.Asp536Gly)
c.1553A>G (p.Asp518Gly)
n.14A>G
c.119+263A>G
c.110A>G (p.Asp37Gly)
3g.52403538T>GCA353100371BAP1c.1607A>C (p.Asp536Ala)
c.1553A>C (p.Asp518Ala)
n.14A>C
c.119+263A>C
c.110A>C (p.Asp37Ala)
 dbSNP
3g.52403539C>ACA353100373BAP1c.1606G>T (p.Asp536Tyr)
c.1552G>T (p.Asp518Tyr)
n.13G>T
c.119+262G>T
c.109G>T (p.Asp37Tyr)
 dbSNP
3g.52403539C=CA1364836561BAP1c.1606G= (p.Asp536=)
c.1552G= (p.Asp518=)
n.13G=
c.119+262G=
c.109G= (p.Asp37=)
3g.52403539C>GCA353100375BAP1c.1606G>C (p.Asp536His)
c.1552G>C (p.Asp518His)
n.13G>C
c.119+262G>C
c.109G>C (p.Asp37His)
 dbSNP
3g.52403539C>TCA74740656BAP1c.1606G>A (p.Asp536Asn)
c.1552G>A (p.Asp518Asn)
n.13G>A
c.119+262G>A
c.109G>A (p.Asp37Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403540A>CCA353100376BAP1c.1605T>G (p.Asp535Glu)
c.1551T>G (p.Asp517Glu)
n.12T>G
c.119+261T>G
c.108T>G (p.Asp36Glu)
 dbSNP
3g.52403540A>GCA433886043BAP1c.1605T>C (p.Asp535=)
c.1551T>C (p.Asp517=)
n.12T>C
c.119+261T>C
c.108T>C (p.Asp36=)
 ClinVar dbSNP gnomAD v4
3g.52403540A>TCA353100378BAP1c.1605T>A (p.Asp535Glu)
c.1551T>A (p.Asp517Glu)
n.12T>A
c.119+261T>A
c.108T>A (p.Asp36Glu)
 dbSNP
3g.52403541delCA433886049BAP1c.1604del (p.Asp535ValfsTer?)
c.1550del (p.Asp517ValfsTer?)
n.11del
c.119+260del
c.107del (p.Asp36ValfsTer?)
 COSMIC COSMIC
3g.52403541T>ACA353100382BAP1c.1604A>T (p.Asp535Val)
c.1550A>T (p.Asp517Val)
n.11A>T
c.119+260A>T
c.107A>T (p.Asp36Val)
 dbSNP
3g.52403541T>CCA353100385BAP1c.1604A>G (p.Asp535Gly)
c.1550A>G (p.Asp517Gly)
n.11A>G
c.119+260A>G
c.107A>G (p.Asp36Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403541T>GCA353100389BAP1c.1604A>C (p.Asp535Ala)
c.1550A>C (p.Asp517Ala)
n.11A>C
c.119+260A>C
c.107A>C (p.Asp36Ala)
 dbSNP
3g.52403541T=CA1364836564BAP1c.1604A= (p.Asp535=)
c.1550A= (p.Asp517=)
n.11A=
c.119+260A=
c.107A= (p.Asp36=)
3g.52403542C>ACA353100394BAP1c.1603G>T (p.Asp535Tyr)
c.1549G>T (p.Asp517Tyr)
n.10G>T
c.119+259G>T
c.106G>T (p.Asp36Tyr)
 dbSNP
3g.52403542C>GCA353100397BAP1c.1603G>C (p.Asp535His)
c.1549G>C (p.Asp517His)
n.10G>C
c.119+259G>C
c.106G>C (p.Asp36His)
 dbSNP
3g.52403542C>TCA353100400BAP1c.1603G>A (p.Asp535Asn)
c.1549G>A (p.Asp517Asn)
n.10G>A
c.119+259G>A
c.106G>A (p.Asp36Asn)
 dbSNP
3g.52403543C>ACA353100402BAP1c.1602G>T (p.Glu534Asp)
c.1548G>T (p.Glu516Asp)
n.9G>T
c.119+258G>T
c.105G>T (p.Glu35Asp)
 dbSNP
3g.52403543C=CA1364836565BAP1c.1602G= (p.Glu534=)
c.1548G= (p.Glu516=)
n.9G=
c.119+258G=
c.105G= (p.Glu35=)
3g.52403543C>GCA353100405BAP1c.1602G>C (p.Glu534Asp)
c.1548G>C (p.Glu516Asp)
n.9G>C
c.119+258G>C
c.105G>C (p.Glu35Asp)
3g.52403543C>TCA433886057BAP1c.1602G>A (p.Glu534=)
c.1548G>A (p.Glu516=)
n.9G>A
c.119+258G>A
c.105G>A (p.Glu35=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403544T>ACA353100408BAP1c.1601A>T (p.Glu534Val)
c.1547A>T (p.Glu516Val)
n.8A>T
c.119+257A>T
c.104A>T (p.Glu35Val)
 dbSNP
3g.52403544T>CCA353100411BAP1c.1601A>G (p.Glu534Gly)
c.1547A>G (p.Glu516Gly)
n.8A>G
c.119+257A>G
c.104A>G (p.Glu35Gly)
3g.52403544T>GCA353100416BAP1c.1601A>C (p.Glu534Ala)
c.1547A>C (p.Glu516Ala)
n.8A>C
c.119+257A>C
c.104A>C (p.Glu35Ala)
3g.52403545C>ACA353100421BAP1c.1600G>T (p.Glu534Ter)
c.1546G>T (p.Glu516Ter)
n.7G>T
c.119+256G>T
c.103G>T (p.Glu35Ter)
 dbSNP
3g.52403545C=CA1364836567BAP1c.1600G= (p.Glu534=)
c.1546G= (p.Glu516=)
n.7G=
c.119+256G=
c.103G= (p.Glu35=)
3g.52403545C>GCA353100420BAP1c.1600G>C (p.Glu534Gln)
c.1546G>C (p.Glu516Gln)
n.7G>C
c.119+256G>C
c.103G>C (p.Glu35Gln)
 dbSNP
3g.52403545C>TCA353100419BAP1c.1600G>A (p.Glu534Lys)
c.1546G>A (p.Glu516Lys)
n.7G>A
c.119+256G>A
c.103G>A (p.Glu35Lys)
 ClinVar dbSNP gnomAD v4
3g.52403546T>ACA433886065BAP1c.1599A>T (p.Gly533=)
c.1545A>T (p.Gly515=)
n.6A>T
c.119+255A>T
c.102A>T (p.Gly34=)
 ClinVar
3g.52403546T>CCA433886069BAP1c.1599A>G (p.Gly533=)
c.1545A>G (p.Gly515=)
n.6A>G
c.119+255A>G
c.102A>G (p.Gly34=)
 ClinVar
3g.52403546T>GCA433886067BAP1c.1599A>C (p.Gly533=)
c.1545A>C (p.Gly515=)
n.6A>C
c.119+255A>C
c.102A>C (p.Gly34=)
3g.52403547C>ACA353100424BAP1c.1598G>T (p.Gly533Val)
c.1544G>T (p.Gly515Val)
n.5G>T
c.119+254G>T
c.101G>T (p.Gly34Val)
 dbSNP
3g.52403547C>GCA353100432BAP1c.1598G>C (p.Gly533Ala)
c.1544G>C (p.Gly515Ala)
n.5G>C
c.119+254G>C
c.101G>C (p.Gly34Ala)
 dbSNP
3g.52403547C>TCA353100435BAP1c.1598G>A (p.Gly533Glu)
c.1544G>A (p.Gly515Glu)
n.5G>A
c.119+254G>A
c.101G>A (p.Gly34Glu)
 dbSNP
3g.52403548C>ACA353100439BAP1c.1597G>T (p.Gly533Ter)
c.1543G>T (p.Gly515Ter)
n.4G>T
c.119+253G>T
c.100G>T (p.Gly34Ter)
3g.52403548C>GCA353100443BAP1c.1597G>C (p.Gly533Arg)
c.1543G>C (p.Gly515Arg)
n.4G>C
c.119+253G>C
c.100G>C (p.Gly34Arg)
3g.52403548C>TCA353100444BAP1c.1597G>A (p.Gly533Arg)
c.1543G>A (p.Gly515Arg)
n.4G>A
c.119+253G>A
c.100G>A (p.Gly34Arg)
3g.52403549A>CCA353100446BAP1c.1596T>G (p.Phe532Leu)
c.1542T>G (p.Phe514Leu)
n.3T>G
c.119+252T>G
c.99T>G (p.Phe33Leu)
3g.52403549A>GCA433886071BAP1c.1596T>C (p.Phe532=)
c.1542T>C (p.Phe514=)
n.3T>C
c.119+252T>C
c.99T>C (p.Phe33=)
 ClinVar
3g.52403549A>TCA353100448BAP1c.1596T>A (p.Phe532Leu)
c.1542T>A (p.Phe514Leu)
n.3T>A
c.119+252T>A
c.99T>A (p.Phe33Leu)
3g.52403553delCA2582342858BAP1c.1596del (p.Phe532LeufsTer?)
c.1542del (p.Phe514LeufsTer?)
c.119+252del
c.99del (p.Phe33LeufsTer?)
 ClinVar
3g.52403550A=CA1364836569BAP1c.1595T= (p.Phe532=)
c.1541T= (p.Phe514=)
n.2T=
c.119+251T=
c.98T= (p.Phe33=)
3g.52403550A>CCA353100450BAP1c.1595T>G (p.Phe532Cys)
c.1541T>G (p.Phe514Cys)
n.2T>G
c.119+251T>G
c.98T>G (p.Phe33Cys)
3g.52403550A>GCA353100506BAP1c.1595T>C (p.Phe532Ser)
c.1541T>C (p.Phe514Ser)
n.2T>C
c.119+251T>C
c.98T>C (p.Phe33Ser)
 ClinVar dbSNP
3g.52403550A>TCA353100509BAP1c.1595T>A (p.Phe532Tyr)
c.1541T>A (p.Phe514Tyr)
n.2T>A
c.119+251T>A
c.98T>A (p.Phe33Tyr)
3g.52403550_52403558delinsAAAAGCACCCA1364836568BAP1c.1587_1595delinsGGTGCTTTT (p.Lys529=)
c.1533_1541delinsGGTGCTTTT (p.Lys511=)
c.119+243_119+251delinsGGTGCTTTT
c.90_98delinsGGTGCTTTT (p.Lys30=)
3g.52403551A>CCA353100511BAP1c.1594T>G (p.Phe532Val)
c.1540T>G (p.Phe514Val)
n.1T>G
c.119+250T>G
c.97T>G (p.Phe33Val)
3g.52403551A>GCA353100513BAP1c.1594T>C (p.Phe532Leu)
c.1540T>C (p.Phe514Leu)
n.1T>C
c.119+250T>C
c.97T>C (p.Phe33Leu)
 ClinVar dbSNP
3g.52403551A>TCA353100516BAP1c.1594T>A (p.Phe532Ile)
c.1540T>A (p.Phe514Ile)
n.1T>A
c.119+250T>A
c.97T>A (p.Phe33Ile)
3g.52403551_52403558delinsTGTGGGAGGTGTGCA915942469BAP1c.1587_1594delinsCACACCTCCCACA (p.Lys529AsnfsTer?)
c.1533_1540delinsCACACCTCCCACA (p.Lys511AsnfsTer?)
c.119+243_119+250delinsCACACCTCCCACA
c.90_97delinsCACACCTCCCACA (p.Lys30AsnfsTer?)
 ClinVar dbSNP
3g.52403552A>CCA433886079BAP1c.1593T>G (p.Leu531=)
c.1539T>G (p.Leu513=)
c.119+249T>G
c.96T>G (p.Leu32=)
3g.52403552A>GCA433886083BAP1c.1593T>C (p.Leu531=)
c.1539T>C (p.Leu513=)
c.119+249T>C
c.96T>C (p.Leu32=)
 ClinVar dbSNP
3g.52403552A>TCA433886080BAP1c.1593T>A (p.Leu531=)
c.1539T>A (p.Leu513=)
c.119+249T>A
c.96T>A (p.Leu32=)
3g.52403553A>CCA353100521BAP1c.1592T>G (p.Leu531Arg)
c.1538T>G (p.Leu513Arg)
c.119+248T>G
c.95T>G (p.Leu32Arg)
 dbSNP
3g.52403553A>GCA353100522BAP1c.1592T>C (p.Leu531Pro)
c.1538T>C (p.Leu513Pro)
c.119+248T>C
c.95T>C (p.Leu32Pro)
 dbSNP gnomAD v4
3g.52403553A>TCA353100520BAP1c.1592T>A (p.Leu531His)
c.1538T>A (p.Leu513His)
c.119+248T>A
c.95T>A (p.Leu32His)
 dbSNP
3g.52403554G>ACA74740657BAP1c.1591C>T (p.Leu531Phe)
c.1537C>T (p.Leu513Phe)
c.119+247C>T
c.94C>T (p.Leu32Phe)
 dbSNP gnomAD v4
3g.52403554G>CCA353100525BAP1c.1591C>G (p.Leu531Val)
c.1537C>G (p.Leu513Val)
c.119+247C>G
c.94C>G (p.Leu32Val)
 dbSNP
3g.52403554G=CA1364836572BAP1c.1591C= (p.Leu531=)
c.1537C= (p.Leu513=)
c.119+247C=
c.94C= (p.Leu32=)
3g.52403554G>TCA353100528BAP1c.1591C>A (p.Leu531Ile)
c.1537C>A (p.Leu513Ile)
c.119+247C>A
c.94C>A (p.Leu32Ile)
3g.52403555C>ACA433886092BAP1c.1590G>T (p.Val530=)
c.1536G>T (p.Val512=)
c.119+246G>T
c.93G>T (p.Val31=)
 dbSNP
3g.52403555C>GCA433886101BAP1c.1590G>C (p.Val530=)
c.1536G>C (p.Val512=)
c.119+246G>C
c.93G>C (p.Val31=)
 ClinVar
3g.52403555C>TCA433886103BAP1c.1590G>A (p.Val530=)
c.1536G>A (p.Val512=)
c.119+246G>A
c.93G>A (p.Val31=)
 dbSNP gnomAD v4
3g.52403556A>CCA353100530BAP1c.1589T>G (p.Val530Gly)
c.1535T>G (p.Val512Gly)
c.119+245T>G
c.92T>G (p.Val31Gly)
3g.52403556A>GCA353100532BAP1c.1589T>C (p.Val530Ala)
c.1535T>C (p.Val512Ala)
c.119+245T>C
c.92T>C (p.Val31Ala)
 dbSNP
3g.52403556A>TCA353100534BAP1c.1589T>A (p.Val530Glu)
c.1535T>A (p.Val512Glu)
c.119+245T>A
c.92T>A (p.Val31Glu)
 dbSNP
3g.52403557C>ACA353100537BAP1c.1588G>T (p.Val530Leu)
c.1534G>T (p.Val512Leu)
c.119+244G>T
c.91G>T (p.Val31Leu)
3g.52403557C>GCA353100539BAP1c.1588G>C (p.Val530Leu)
c.1534G>C (p.Val512Leu)
c.119+244G>C
c.91G>C (p.Val31Leu)
 dbSNP
3g.52403557C>TCA353100541BAP1c.1588G>A (p.Val530Met)
c.1534G>A (p.Val512Met)
c.119+244G>A
c.91G>A (p.Val31Met)
 ClinVar dbSNP gnomAD v4
3g.52403558delCA2573052220BAP1c.1588del (p.Val530CysfsTer?)
c.1534del (p.Val512CysfsTer?)
c.119+244del
c.91del (p.Val31CysfsTer?)
 ClinVar dbSNP
3g.52403558C>ACA353100543BAP1c.1587G>T (p.Lys529Asn)
c.1533G>T (p.Lys511Asn)
c.119+243G>T
c.90G>T (p.Lys30Asn)
 dbSNP
3g.52403558C=CA1364836574BAP1c.1587G= (p.Lys529=)
c.1533G= (p.Lys511=)
c.119+243G=
c.90G= (p.Lys30=)
3g.52403558C>GCA353100546BAP1c.1587G>C (p.Lys529Asn)
c.1533G>C (p.Lys511Asn)
c.119+243G>C
c.90G>C (p.Lys30Asn)
 ClinVar dbSNP
3g.52403558C>TCA433886106BAP1c.1587G>A (p.Lys529=)
c.1533G>A (p.Lys511=)
c.119+243G>A
c.90G>A (p.Lys30=)
3g.52403559T>ACA353100548BAP1c.1586A>T (p.Lys529Met)
c.1532A>T (p.Lys511Met)
c.119+242A>T
c.89A>T (p.Lys30Met)
 dbSNP
3g.52403559T>CCA353100551BAP1c.1586A>G (p.Lys529Arg)
c.1532A>G (p.Lys511Arg)
c.119+242A>G
c.89A>G (p.Lys30Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403559T>GCA353100553BAP1c.1586A>C (p.Lys529Thr)
c.1532A>C (p.Lys511Thr)
c.119+242A>C
c.89A>C (p.Lys30Thr)
3g.52403559T=CA1364836576BAP1c.1586A= (p.Lys529=)
c.1532A= (p.Lys511=)
c.119+242A=
c.89A= (p.Lys30=)
3g.52403560delCA2740094457BAP1c.1586del (p.Lys529ArgfsTer?)
c.1532del (p.Lys511ArgfsTer?)
c.119+242del
c.89del (p.Lys30ArgfsTer?)
 ClinVar
3g.52403560T>ACA353100560BAP1c.1585A>T (p.Lys529Ter)
c.1531A>T (p.Lys511Ter)
c.119+241A>T
c.88A>T (p.Lys30Ter)
3g.52403560T>CCA353100557BAP1c.1585A>G (p.Lys529Glu)
c.1531A>G (p.Lys511Glu)
c.119+241A>G
c.88A>G (p.Lys30Glu)
3g.52403560T>GCA353100555BAP1c.1585A>C (p.Lys529Gln)
c.1531A>C (p.Lys511Gln)
c.119+241A>C
c.88A>C (p.Lys30Gln)
 ClinVar gnomAD v4
3g.52403560T=CA1364836579BAP1c.1585A= (p.Lys529=)
c.1531A= (p.Lys511=)
c.119+241A=
c.88A= (p.Lys30=)
3g.52403560_52403572delinsTGGAGATGTGGGACA1364836580BAP1c.1573_1585delinsTCCCACATCTCCA (p.Ser525=)
c.1519_1531delinsTCCCACATCTCCA (p.Ser507=)
c.119+229_119+241delinsTCCCACATCTCCA
c.76_88delinsTCCCACATCTCCA (p.Ser26=)
3g.52403561G>ACA433886125BAP1c.1584C>T (p.Ser528=)
c.1530C>T (p.Ser510=)
c.119+240C>T
c.87C>T (p.Ser29=)
 dbSNP
3g.52403561G>CCA433886122BAP1c.1584C>G (p.Ser528=)
c.1530C>G (p.Ser510=)
c.119+240C>G
c.87C>G (p.Ser29=)
3g.52403561G>TCA433886123BAP1c.1584C>A (p.Ser528=)
c.1530C>A (p.Ser510=)
c.119+240C>A
c.87C>A (p.Ser29=)
3g.52403562dupCA1139658114BAP1c.1584dup (p.Lys529GlnfsTer8)
c.1530dup (p.Lys511GlnfsTer8)
c.119+240dup
c.87dup (p.Lys30GlnfsTer8)
 ClinVar dbSNP
3g.52403563_52403574delCA1364836583BAP1c.1573_1584del (p.Ser525_Ser528del)
c.1519_1530del (p.Ser507_Ser510del)
c.119+229_119+240del
c.76_87del (p.Ser26_Ser29del)
 ClinVar dbSNP
3g.52403562G>ACA353100563BAP1c.1583C>T (p.Ser528Phe)
c.1529C>T (p.Ser510Phe)
c.119+239C>T
c.86C>T (p.Ser29Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403562G>CCA353100564BAP1c.1583C>G (p.Ser528Cys)
c.1529C>G (p.Ser510Cys)
c.119+239C>G
c.86C>G (p.Ser29Cys)
3g.52403562G=CA1364836586BAP1c.1583C= (p.Ser528=)
c.1529C= (p.Ser510=)
c.119+239C=
c.86C= (p.Ser29=)
3g.52403562G>TCA353100567BAP1c.1583C>A (p.Ser528Tyr)
c.1529C>A (p.Ser510Tyr)
c.119+239C>A
c.86C>A (p.Ser29Tyr)
3g.52403563A=CA1364836588BAP1c.1582T= (p.Ser528=)
c.1528T= (p.Ser510=)
c.119+238T=
c.85T= (p.Ser29=)
3g.52403563A>CCA2436772BAP1c.1582T>G (p.Ser528Ala)
c.1528T>G (p.Ser510Ala)
c.119+238T>G
c.85T>G (p.Ser29Ala)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
3g.52403563A>GCA353100570BAP1c.1582T>C (p.Ser528Pro)
c.1528T>C (p.Ser510Pro)
c.119+238T>C
c.85T>C (p.Ser29Pro)
 ClinVar dbSNP gnomAD v4
3g.52403563A>TCA353100572BAP1c.1582T>A (p.Ser528Thr)
c.1528T>A (p.Ser510Thr)
c.119+238T>A
c.85T>A (p.Ser29Thr)
3g.52403564G>ACA433886134BAP1c.1581C>T (p.Ile527=)
c.1527C>T (p.Ile509=)
c.119+237C>T
c.84C>T (p.Ile28=)
 ClinVar dbSNP
3g.52403564G>CCA353100574BAP1c.1581C>G (p.Ile527Met)
c.1527C>G (p.Ile509Met)
c.119+237C>G
c.84C>G (p.Ile28Met)
 ClinVar
3g.52403564G=CA1364836591BAP1c.1581C= (p.Ile527=)
c.1527C= (p.Ile509=)
c.119+237C=
c.84C= (p.Ile28=)
3g.52403564G>TCA433886136BAP1c.1581C>A (p.Ile527=)
c.1527C>A (p.Ile509=)
c.119+237C>A
c.84C>A (p.Ile28=)
3g.52403565A>CCA353100577BAP1c.1580T>G (p.Ile527Ser)
c.1526T>G (p.Ile509Ser)
c.119+236T>G
c.83T>G (p.Ile28Ser)
3g.52403565A>GCA353100580BAP1c.1580T>C (p.Ile527Thr)
c.1526T>C (p.Ile509Thr)
c.119+236T>C
c.83T>C (p.Ile28Thr)
 dbSNP
3g.52403565A>TCA353100581BAP1c.1580T>A (p.Ile527Asn)
c.1526T>A (p.Ile509Asn)
c.119+236T>A
c.83T>A (p.Ile28Asn)
3g.52403565_52403572delCA645529903BAP1c.1573_1580del (p.Ser525LeufsTer9)
c.1519_1526del (p.Ser507LeufsTer9)
c.119+229_119+236del
c.76_83del (p.Ser26LeufsTer9)
 COSMIC
3g.52403566T>ACA353100584BAP1c.1579A>T (p.Ile527Phe)
c.1525A>T (p.Ile509Phe)
c.119+235A>T
c.82A>T (p.Ile28Phe)
3g.52403566T>CCA353100586BAP1c.1579A>G (p.Ile527Val)
c.1525A>G (p.Ile509Val)
c.119+235A>G
c.82A>G (p.Ile28Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403566T>GCA353100589BAP1c.1579A>C (p.Ile527Leu)
c.1525A>C (p.Ile509Leu)
c.119+235A>C
c.82A>C (p.Ile28Leu)
3g.52403566T=CA1364836592BAP1c.1579A= (p.Ile527=)
c.1525A= (p.Ile509=)
c.119+235A=
c.82A= (p.Ile28=)
3g.52403567G>ACA433886137BAP1c.1578C>T (p.His526=)
c.1524C>T (p.His508=)
c.119+234C>T
c.81C>T (p.His27=)
 ClinVar dbSNP
3g.52403567G>CCA353100593BAP1c.1578C>G (p.His526Gln)
c.1524C>G (p.His508Gln)
c.119+234C>G
c.81C>G (p.His27Gln)
3g.52403567G=CA1364836594BAP1c.1578C= (p.His526=)
c.1524C= (p.His508=)
c.119+234C=
c.81C= (p.His27=)
3g.52403567G>TCA353100591BAP1c.1578C>A (p.His526Gln)
c.1524C>A (p.His508Gln)
c.119+234C>A
c.81C>A (p.His27Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403568T>ACA353100599BAP1c.1577A>T (p.His526Leu)
c.1523A>T (p.His508Leu)
c.119+233A>T
c.80A>T (p.His27Leu)
3g.52403568T>CCA353100601BAP1c.1577A>G (p.His526Arg)
c.1523A>G (p.His508Arg)
c.119+233A>G
c.80A>G (p.His27Arg)
 ClinVar
3g.52403568T>GCA353100603BAP1c.1577A>C (p.His526Pro)
c.1523A>C (p.His508Pro)
c.119+233A>C
c.80A>C (p.His27Pro)

Number of alleles fetched