Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
 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)
3g.52403569G>ACA353100605BAP1c.1576C>T (p.His526Tyr)
c.1522C>T (p.His508Tyr)
c.119+232C>T
c.79C>T (p.His27Tyr)
 ClinVar dbSNP
3g.52403569G>CCA353100606BAP1c.1576C>G (p.His526Asp)
c.1522C>G (p.His508Asp)
c.119+232C>G
c.79C>G (p.His27Asp)
3g.52403569G=CA1364836596BAP1c.1576C= (p.His526=)
c.1522C= (p.His508=)
c.119+232C=
c.79C= (p.His27=)
3g.52403569G>TCA353100608BAP1c.1576C>A (p.His526Asn)
c.1522C>A (p.His508Asn)
c.119+232C>A
c.79C>A (p.His27Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403570G>ACA433886145BAP1c.1575C>T (p.Ser525=)
c.1521C>T (p.Ser507=)
c.119+231C>T
c.78C>T (p.Ser26=)
 ClinVar dbSNP
3g.52403570G>CCA433886146BAP1c.1575C>G (p.Ser525=)
c.1521C>G (p.Ser507=)
c.119+231C>G
c.78C>G (p.Ser26=)
 ClinVar dbSNP
3g.52403570G>TCA433886147BAP1c.1575C>A (p.Ser525=)
c.1521C>A (p.Ser507=)
c.119+231C>A
c.78C>A (p.Ser26=)
3g.52403571G>ACA353100615BAP1c.1574C>T (p.Ser525Phe)
c.1520C>T (p.Ser507Phe)
c.119+230C>T
c.77C>T (p.Ser26Phe)
 dbSNP
3g.52403571G>CCA353100614BAP1c.1574C>G (p.Ser525Cys)
c.1520C>G (p.Ser507Cys)
c.119+230C>G
c.77C>G (p.Ser26Cys)
 COSMIC
3g.52403571G=CA1364836598BAP1c.1574C= (p.Ser525=)
c.1520C= (p.Ser507=)
c.119+230C=
c.77C= (p.Ser26=)
3g.52403571G>TCA353100611BAP1c.1574C>A (p.Ser525Tyr)
c.1520C>A (p.Ser507Tyr)
c.119+230C>A
c.77C>A (p.Ser26Tyr)
3g.52403572A>CCA353100618BAP1c.1573T>G (p.Ser525Ala)
c.1519T>G (p.Ser507Ala)
c.119+229T>G
c.76T>G (p.Ser26Ala)
3g.52403572A>GCA353100621BAP1c.1573T>C (p.Ser525Pro)
c.1519T>C (p.Ser507Pro)
c.119+229T>C
c.76T>C (p.Ser26Pro)
3g.52403572A>TCA353100623BAP1c.1573T>A (p.Ser525Thr)
c.1519T>A (p.Ser507Thr)
c.119+229T>A
c.76T>A (p.Ser26Thr)
 dbSNP
3g.52403573G>ACA433886156BAP1c.1572C>T (p.Thr524=)
c.1518C>T (p.Thr506=)
c.119+228C>T
c.75C>T (p.Thr25=)
 ClinVar dbSNP
3g.52403573G>CCA433886157BAP1c.1572C>G (p.Thr524=)
c.1518C>G (p.Thr506=)
c.119+228C>G
c.75C>G (p.Thr25=)
3g.52403573G=CA1364836599BAP1c.1572C= (p.Thr524=)
c.1518C= (p.Thr506=)
c.119+228C=
c.75C= (p.Thr25=)
3g.52403573G>TCA433886158BAP1c.1572C>A (p.Thr524=)
c.1518C>A (p.Thr506=)
c.119+228C>A
c.75C>A (p.Thr25=)
3g.52403573_52403574delinsAACA645529904BAP1c.1571_1572delinsTT (p.Thr524Ile)
c.1517_1518delinsTT (p.Thr506Ile)
c.119+227_119+228delinsTT
c.74_75delinsTT (p.Thr25Ile)
 COSMIC
3g.52403574G>ACA353100626BAP1c.1571C>T (p.Thr524Ile)
c.1517C>T (p.Thr506Ile)
c.119+227C>T
c.74C>T (p.Thr25Ile)
 ClinVar dbSNP gnomAD v4
3g.52403574G>CCA353100627BAP1c.1571C>G (p.Thr524Ser)
c.1517C>G (p.Thr506Ser)
c.119+227C>G
c.74C>G (p.Thr25Ser)
3g.52403574G=CA1364836601BAP1c.1571C= (p.Thr524=)
c.1517C= (p.Thr506=)
c.119+227C=
c.74C= (p.Thr25=)
3g.52403574G>TCA353100628BAP1c.1571C>A (p.Thr524Asn)
c.1517C>A (p.Thr506Asn)
c.119+227C>A
c.74C>A (p.Thr25Asn)
 ClinVar dbSNP
3g.52403575T>ACA353100631BAP1c.1570A>T (p.Thr524Ser)
c.1516A>T (p.Thr506Ser)
c.119+226A>T
c.73A>T (p.Thr25Ser)
 dbSNP
3g.52403575T>CCA353100635BAP1c.1570A>G (p.Thr524Ala)
c.1516A>G (p.Thr506Ala)
c.119+226A>G
c.73A>G (p.Thr25Ala)
 ClinVar
3g.52403575T>GCA353100632BAP1c.1570A>C (p.Thr524Pro)
c.1516A>C (p.Thr506Pro)
c.119+226A>C
c.73A>C (p.Thr25Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403575T=CA1364836605BAP1c.1570A= (p.Thr524=)
c.1516A= (p.Thr506=)
c.119+226A=
c.73A= (p.Thr25=)
3g.52403576G>ACA433886164BAP1c.1569C>T (p.Val523=)
c.1515C>T (p.Val505=)
c.119+225C>T
c.72C>T (p.Val24=)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.52403576G>CCA433886165BAP1c.1569C>G (p.Val523=)
c.1515C>G (p.Val505=)
c.119+225C>G
c.72C>G (p.Val24=)
3g.52403576G>TCA433886166BAP1c.1569C>A (p.Val523=)
c.1515C>A (p.Val505=)
c.119+225C>A
c.72C>A (p.Val24=)
 ClinVar
3g.52403577A>CCA353100638BAP1c.1568T>G (p.Val523Gly)
c.1514T>G (p.Val505Gly)
c.119+224T>G
c.71T>G (p.Val24Gly)
3g.52403577A>GCA353100639BAP1c.1568T>C (p.Val523Ala)
c.1514T>C (p.Val505Ala)
c.119+224T>C
c.71T>C (p.Val24Ala)
3g.52403577A>TCA353100642BAP1c.1568T>A (p.Val523Asp)
c.1514T>A (p.Val505Asp)
c.119+224T>A
c.71T>A (p.Val24Asp)
3g.52403578C>ACA353100645BAP1c.1567G>T (p.Val523Phe)
c.1513G>T (p.Val505Phe)
c.119+223G>T
c.70G>T (p.Val24Phe)
3g.52403578C>GCA353100647BAP1c.1567G>C (p.Val523Leu)
c.1513G>C (p.Val505Leu)
c.119+223G>C
c.70G>C (p.Val24Leu)
 dbSNP
3g.52403578C>TCA353100650BAP1c.1567G>A (p.Val523Ile)
c.1513G>A (p.Val505Ile)
c.119+223G>A
c.70G>A (p.Val24Ile)
 ClinVar dbSNP
3g.52403578_52403580delinsCAGCA1364836607BAP1c.1565_1567delinsCTG (p.Pro522=)
c.1511_1513delinsCTG (p.Pro504=)
c.119+221_119+223delinsCTG
c.68_70delinsCTG (p.Pro23=)
3g.52403579delCA645529905BAP1c.1566del (p.Val523SerfsTer?)
c.1512del (p.Val505SerfsTer?)
c.119+222del
c.69del (p.Val24SerfsTer?)
 COSMIC
3g.52403579A>CCA433886169BAP1c.1566T>G (p.Pro522=)
c.1512T>G (p.Pro504=)
c.119+222T>G
c.69T>G (p.Pro23=)
3g.52403579A>GCA433886171BAP1c.1566T>C (p.Pro522=)
c.1512T>C (p.Pro504=)
c.119+222T>C
c.69T>C (p.Pro23=)
 ClinVar dbSNP gnomAD v4
3g.52403579A>TCA433886172BAP1c.1566T>A (p.Pro522=)
c.1512T>A (p.Pro504=)
c.119+222T>A
c.69T>A (p.Pro23=)
3g.52403579_52403580delCA1139658115BAP1c.1565_1566del (p.Pro522ArgfsTer14)
c.1511_1512del (p.Pro504ArgfsTer14)
c.119+221_119+222del
c.68_69del (p.Pro23ArgfsTer14)
 ClinVar dbSNP
3g.52403580G>ACA353100652BAP1c.1565C>T (p.Pro522Leu)
c.1511C>T (p.Pro504Leu)
c.119+221C>T
c.68C>T (p.Pro23Leu)
 ClinVar
3g.52403580G>CCA353100653BAP1c.1565C>G (p.Pro522Arg)
c.1511C>G (p.Pro504Arg)
c.119+221C>G
c.68C>G (p.Pro23Arg)
 ClinVar dbSNP
3g.52403580G=CA1364836610BAP1c.1565C= (p.Pro522=)
c.1511C= (p.Pro504=)
c.119+221C=
c.68C= (p.Pro23=)
3g.52403580G>TCA353100655BAP1c.1565C>A (p.Pro522His)
c.1511C>A (p.Pro504His)
c.119+221C>A
c.68C>A (p.Pro23His)
3g.52403581G>ACA353100657BAP1c.1564C>T (p.Pro522Ser)
c.1510C>T (p.Pro504Ser)
c.119+220C>T
c.67C>T (p.Pro23Ser)
3g.52403581G>CCA353100660BAP1c.1564C>G (p.Pro522Ala)
c.1510C>G (p.Pro504Ala)
c.119+220C>G
c.67C>G (p.Pro23Ala)
 ClinVar
3g.52403581G>TCA353100661BAP1c.1564C>A (p.Pro522Thr)
c.1510C>A (p.Pro504Thr)
c.119+220C>A
c.67C>A (p.Pro23Thr)
 COSMIC
3g.52403582G>ACA433886180BAP1c.1563C>T (p.Ser521=)
c.1509C>T (p.Ser503=)
c.119+219C>T
c.66C>T (p.Ser22=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403582G>CCA353100664BAP1c.1563C>G (p.Ser521Arg)
c.1509C>G (p.Ser503Arg)
c.119+219C>G
c.66C>G (p.Ser22Arg)
3g.52403582G=CA1364836612BAP1c.1563C= (p.Ser521=)
c.1509C= (p.Ser503=)
c.119+219C=
c.66C= (p.Ser22=)
3g.52403582G>TCA353100667BAP1c.1563C>A (p.Ser521Arg)
c.1509C>A (p.Ser503Arg)
c.119+219C>A
c.66C>A (p.Ser22Arg)
3g.52403583C>ACA353100669BAP1c.1562G>T (p.Ser521Ile)
c.1508G>T (p.Ser503Ile)
c.119+218G>T
c.65G>T (p.Ser22Ile)
 dbSNP
3g.52403583C>GCA353100670BAP1c.1562G>C (p.Ser521Thr)
c.1508G>C (p.Ser503Thr)
c.119+218G>C
c.65G>C (p.Ser22Thr)
 dbSNP
3g.52403583C>TCA353100673BAP1c.1562G>A (p.Ser521Asn)
c.1508G>A (p.Ser503Asn)
c.119+218G>A
c.65G>A (p.Ser22Asn)
 dbSNP
3g.52403584T>ACA353100676BAP1c.1561A>T (p.Ser521Cys)
c.1507A>T (p.Ser503Cys)
c.119+217A>T
c.64A>T (p.Ser22Cys)
 dbSNP
3g.52403584T>CCA353100678BAP1c.1561A>G (p.Ser521Gly)
c.1507A>G (p.Ser503Gly)
c.119+217A>G
c.64A>G (p.Ser22Gly)
 dbSNP
3g.52403584T>GCA353100679BAP1c.1561A>C (p.Ser521Arg)
c.1507A>C (p.Ser503Arg)
c.119+217A>C
c.64A>C (p.Ser22Arg)
3g.52403584T=CA1364836613BAP1c.1561A= (p.Ser521=)
c.1507A= (p.Ser503=)
c.119+217A=
c.64A= (p.Ser22=)
3g.52403585G>ACA433886184BAP1c.1560C>T (p.Ser520=)
c.1506C>T (p.Ser502=)
c.119+216C>T
c.63C>T (p.Ser21=)
 ClinVar dbSNP
3g.52403585G>CCA433886185BAP1c.1560C>G (p.Ser520=)
c.1506C>G (p.Ser502=)
c.119+216C>G
c.63C>G (p.Ser21=)
3g.52403585G=CA1364836615BAP1c.1560C= (p.Ser520=)
c.1506C= (p.Ser502=)
c.119+216C=
c.63C= (p.Ser21=)
3g.52403585G>TCA433886186BAP1c.1560C>A (p.Ser520=)
c.1506C>A (p.Ser502=)
c.119+216C>A
c.63C>A (p.Ser21=)
 ClinVar
3g.52403586G>ACA353100686BAP1c.1559C>T (p.Ser520Phe)
c.1505C>T (p.Ser502Phe)
c.119+215C>T
c.62C>T (p.Ser21Phe)
 ClinVar dbSNP gnomAD v4
3g.52403586G>CCA353100685BAP1c.1559C>G (p.Ser520Cys)
c.1505C>G (p.Ser502Cys)
c.119+215C>G
c.62C>G (p.Ser21Cys)
3g.52403586G=CA1364836618BAP1c.1559C= (p.Ser520=)
c.1505C= (p.Ser502=)
c.119+215C=
c.62C= (p.Ser21=)
3g.52403586G>TCA353100682BAP1c.1559C>A (p.Ser520Tyr)
c.1505C>A (p.Ser502Tyr)
c.119+215C>A
c.62C>A (p.Ser21Tyr)
3g.52403587_52403593delCA645529906BAP1c.1553_1559del (p.Arg518ProfsTer?)
c.1499_1505del (p.Arg500ProfsTer?)
c.119+209_119+215del
c.56_62del (p.Arg19ProfsTer?)
 COSMIC
3g.52403587A>CCA353100687BAP1c.1558T>G (p.Ser520Ala)
c.1504T>G (p.Ser502Ala)
c.119+214T>G
c.61T>G (p.Ser21Ala)
 ClinVar
3g.52403587A>GCA353100688BAP1c.1558T>C (p.Ser520Pro)
c.1504T>C (p.Ser502Pro)
c.119+214T>C
c.61T>C (p.Ser21Pro)
 ClinVar dbSNP
3g.52403587A>TCA353100689BAP1c.1558T>A (p.Ser520Thr)
c.1504T>A (p.Ser502Thr)
c.119+214T>A
c.61T>A (p.Ser21Thr)
 dbSNP gnomAD v4
3g.52403588G>ACA433886034BAP1c.1557C>T (p.Pro519=)
c.1503C>T (p.Pro501=)
c.119+213C>T
c.60C>T (p.Pro20=)
 ClinVar dbSNP
3g.52403588G>CCA433886040BAP1c.1557C>G (p.Pro519=)
c.1503C>G (p.Pro501=)
c.119+213C>G
c.60C>G (p.Pro20=)
3g.52403588G>TCA433886036BAP1c.1557C>A (p.Pro519=)
c.1503C>A (p.Pro501=)
c.119+213C>A
c.60C>A (p.Pro20=)
3g.52403590delCA645529907BAP1c.1557del (p.Ser520ProfsTer?)
c.1503del (p.Ser502ProfsTer?)
c.119+213del
c.60del (p.Ser21ProfsTer?)
 COSMIC
3g.52403589G>ACA2436773BAP1c.1556C>T (p.Pro519Leu)
c.1502C>T (p.Pro501Leu)
c.119+212C>T
c.59C>T (p.Pro20Leu)
 dbSNP ExAC gnomAD v2
3g.52403589G>CCA353100694BAP1c.1556C>G (p.Pro519Arg)
c.1502C>G (p.Pro501Arg)
c.119+212C>G
c.59C>G (p.Pro20Arg)
3g.52403589G=CA1364836620BAP1c.1556C= (p.Pro519=)
c.1502C= (p.Pro501=)
c.119+212C=
c.59C= (p.Pro20=)
3g.52403589G>TCA353100696BAP1c.1556C>A (p.Pro519His)
c.1502C>A (p.Pro501His)
c.119+212C>A
c.59C>A (p.Pro20His)
3g.52403590G>ACA353100703BAP1c.1555C>T (p.Pro519Ser)
c.1501C>T (p.Pro501Ser)
c.119+211C>T
c.58C>T (p.Pro20Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403590G>CCA2436774BAP1c.1555C>G (p.Pro519Ala)
c.1501C>G (p.Pro501Ala)
c.119+211C>G
c.58C>G (p.Pro20Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403590G=CA1364836623BAP1c.1555C= (p.Pro519=)
c.1501C= (p.Pro501=)
c.119+211C=
c.58C= (p.Pro20=)
3g.52403590G>TCA353100699BAP1c.1555C>A (p.Pro519Thr)
c.1501C>A (p.Pro501Thr)
c.119+211C>A
c.58C>A (p.Pro20Thr)
3g.52403591C>ACA433886045BAP1c.1554G>T (p.Arg518=)
c.1500G>T (p.Arg500=)
c.119+210G>T
c.57G>T (p.Arg19=)
 ClinVar dbSNP
3g.52403591C=CA1364836626BAP1c.1554G= (p.Arg518=)
c.1500G= (p.Arg500=)
c.119+210G=
c.57G= (p.Arg19=)
3g.52403591C>GCA433886046BAP1c.1554G>C (p.Arg518=)
c.1500G>C (p.Arg500=)
c.119+210G>C
c.57G>C (p.Arg19=)
 ClinVar dbSNP
3g.52403591C>TCA433886047BAP1c.1554G>A (p.Arg518=)
c.1500G>A (p.Arg500=)
c.119+210G>A
c.57G>A (p.Arg19=)
 dbSNP gnomAD v4
3g.52403592C>ACA353100705BAP1c.1553G>T (p.Arg518Leu)
c.1499G>T (p.Arg500Leu)
c.119+209G>T
c.56G>T (p.Arg19Leu)
 dbSNP
3g.52403592C=CA1364836629BAP1c.1553G= (p.Arg518=)
c.1499G= (p.Arg500=)
c.119+209G=
c.56G= (p.Arg19=)
3g.52403592C>GCA353100706BAP1c.1553G>C (p.Arg518Pro)
c.1499G>C (p.Arg500Pro)
c.119+209G>C
c.56G>C (p.Arg19Pro)
3g.52403592C>TCA2436775BAP1c.1553G>A (p.Arg518Gln)
c.1499G>A (p.Arg500Gln)
c.119+209G>A
c.56G>A (p.Arg19Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403593G>ACA2436776BAP1c.1552C>T (p.Arg518Trp)
c.1498C>T (p.Arg500Trp)
c.119+208C>T
c.55C>T (p.Arg19Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.52403593G>CCA353100711BAP1c.1552C>G (p.Arg518Gly)
c.1498C>G (p.Arg500Gly)
c.119+208C>G
c.55C>G (p.Arg19Gly)
 gnomAD v4
3g.52403593G=CA1364836635BAP1c.1552C= (p.Arg518=)
c.1498C= (p.Arg500=)
c.119+208C=
c.55C= (p.Arg19=)
3g.52403593G>TCA433886051BAP1c.1552C>A (p.Arg518=)
c.1498C>A (p.Arg500=)
c.119+208C>A
c.55C>A (p.Arg19=)
3g.52403593_52403594insGGCA645529908BAP1c.1552_1553insCC (p.Arg518ProfsTer?)
c.1498_1499insCC (p.Arg500ProfsTer?)
c.119+208_119+209insCC
c.55_56insCC (p.Arg19ProfsTer?)
 COSMIC
3g.52403594C>ACA433886053BAP1c.1551G>T (p.Thr517=)
c.1497G>T (p.Thr499=)
c.119+207G>T
c.54G>T (p.Thr18=)
3g.52403594C=CA1364836639BAP1c.1551G= (p.Thr517=)
c.1497G= (p.Thr499=)
c.119+207G=
c.54G= (p.Thr18=)
3g.52403594C>GCA433886055BAP1c.1551G>C (p.Thr517=)
c.1497G>C (p.Thr499=)
c.119+207G>C
c.54G>C (p.Thr18=)
3g.52403594C>TCA2436777BAP1c.1551G>A (p.Thr517=)
c.1497G>A (p.Thr499=)
c.119+207G>A
c.54G>A (p.Thr18=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403595G>ACA2436778BAP1c.1550C>T (p.Thr517Met)
c.1496C>T (p.Thr499Met)
c.119+206C>T
c.53C>T (p.Thr18Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.52403595G>CCA353100717BAP1c.1550C>G (p.Thr517Arg)
c.1496C>G (p.Thr499Arg)
c.119+206C>G
c.53C>G (p.Thr18Arg)
3g.52403595G=CA1364836647BAP1c.1550C= (p.Thr517=)
c.1496C= (p.Thr499=)
c.119+206C=
c.53C= (p.Thr18=)
3g.52403595G>TCA16611334BAP1c.1550C>A (p.Thr517Lys)
c.1496C>A (p.Thr499Lys)
c.119+206C>A
c.53C>A (p.Thr18Lys)
 ClinVar dbSNP gnomAD v4
3g.52403596T>ACA353100722BAP1c.1549A>T (p.Thr517Ser)
c.1495A>T (p.Thr499Ser)
c.119+205A>T
c.52A>T (p.Thr18Ser)
3g.52403596T>CCA353100723BAP1c.1549A>G (p.Thr517Ala)
c.1495A>G (p.Thr499Ala)
c.119+205A>G
c.52A>G (p.Thr18Ala)
 ClinVar dbSNP gnomAD v4
3g.52403596T>GCA353100726BAP1c.1549A>C (p.Thr517Pro)
c.1495A>C (p.Thr499Pro)
c.119+205A>C
c.52A>C (p.Thr18Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403596T=CA1364836653BAP1c.1549A= (p.Thr517=)
c.1495A= (p.Thr499=)
c.119+205A=
c.52A= (p.Thr18=)
3g.52403597C>ACA433886063BAP1c.1548G>T (p.Pro516=)
c.1494G>T (p.Pro498=)
c.119+204G>T
c.51G>T (p.Pro17=)
 ClinVar dbSNP
3g.52403597C=CA1364836657BAP1c.1548G= (p.Pro516=)
c.1494G= (p.Pro498=)
c.119+204G=
c.51G= (p.Pro17=)
3g.52403597C>GCA433886066BAP1c.1548G>C (p.Pro516=)
c.1494G>C (p.Pro498=)
c.119+204G>C
c.51G>C (p.Pro17=)
 dbSNP
3g.52403597C>TCA2436779BAP1c.1548G>A (p.Pro516=)
c.1494G>A (p.Pro498=)
c.119+204G>A
c.51G>A (p.Pro17=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403598G>ACA2436780BAP1c.1547C>T (p.Pro516Leu)
c.1493C>T (p.Pro498Leu)
c.119+203C>T
c.50C>T (p.Pro17Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.52403598G>CCA353100735BAP1c.1547C>G (p.Pro516Arg)
c.1493C>G (p.Pro498Arg)
c.119+203C>G
c.50C>G (p.Pro17Arg)
3g.52403598G=CA1364836664BAP1c.1547C= (p.Pro516=)
c.1493C= (p.Pro498=)
c.119+203C=
c.50C= (p.Pro17=)
3g.52403598G>TCA353100733BAP1c.1547C>A (p.Pro516Gln)
c.1493C>A (p.Pro498Gln)
c.119+203C>A
c.50C>A (p.Pro17Gln)
3g.52403599G>ACA353100739BAP1c.1546C>T (p.Pro516Ser)
c.1492C>T (p.Pro498Ser)
c.119+202C>T
c.49C>T (p.Pro17Ser)
 ClinVar dbSNP
3g.52403599G>CCA353100740BAP1c.1546C>G (p.Pro516Ala)
c.1492C>G (p.Pro498Ala)
c.119+202C>G
c.49C>G (p.Pro17Ala)
3g.52403599G>TCA353100743BAP1c.1546C>A (p.Pro516Thr)
c.1492C>A (p.Pro498Thr)
c.119+202C>A
c.49C>A (p.Pro17Thr)
 dbSNP
3g.52403600G>ACA433886078BAP1c.1545C>T (p.Asn515=)
c.1491C>T (p.Asn497=)
c.119+201C>T
c.48C>T (p.Asn16=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403600G>CCA353100747BAP1c.1545C>G (p.Asn515Lys)
c.1491C>G (p.Asn497Lys)
c.119+201C>G
c.48C>G (p.Asn16Lys)
3g.52403600G=CA1364836668BAP1c.1545C= (p.Asn515=)
c.1491C= (p.Asn497=)
c.119+201C=
c.48C= (p.Asn16=)
3g.52403600G>TCA353100748BAP1c.1545C>A (p.Asn515Lys)
c.1491C>A (p.Asn497Lys)
c.119+201C>A
c.48C>A (p.Asn16Lys)
3g.52403601T>ACA353100757BAP1c.1544A>T (p.Asn515Ile)
c.1490A>T (p.Asn497Ile)
c.119+200A>T
c.47A>T (p.Asn16Ile)
 dbSNP
3g.52403601T>CCA353100754BAP1c.1544A>G (p.Asn515Ser)
c.1490A>G (p.Asn497Ser)
c.119+200A>G
c.47A>G (p.Asn16Ser)
 ClinVar dbSNP
3g.52403601T>GCA353100751BAP1c.1544A>C (p.Asn515Thr)
c.1490A>C (p.Asn497Thr)
c.119+200A>C
c.47A>C (p.Asn16Thr)
 ClinVar gnomAD v4
3g.52403602delCA2573137325BAP1c.1544del (p.Asn515ThrfsTer?)
c.1490del (p.Asn497ThrfsTer?)
c.119+200del
c.47del (p.Asn16ThrfsTer?)
 ClinVar dbSNP
3g.52403602T>ACA353100760BAP1c.1543A>T (p.Asn515Tyr)
c.1489A>T (p.Asn497Tyr)
c.119+199A>T
c.46A>T (p.Asn16Tyr)
3g.52403602T>CCA353100763BAP1c.1543A>G (p.Asn515Asp)
c.1489A>G (p.Asn497Asp)
c.119+199A>G
c.46A>G (p.Asn16Asp)
3g.52403602T>GCA2436781BAP1c.1543A>C (p.Asn515His)
c.1489A>C (p.Asn497His)
c.119+199A>C
c.46A>C (p.Asn16His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403602T=CA1364836671BAP1c.1543A= (p.Asn515=)
c.1489A= (p.Asn497=)
c.119+199A=
c.46A= (p.Asn16=)
3g.52403603G>ACA433886086BAP1c.1542C>T (p.Ala514=)
c.1488C>T (p.Ala496=)
c.119+198C>T
c.45C>T (p.Ala15=)
 ClinVar dbSNP gnomAD v4
3g.52403603G>CCA433886087BAP1c.1542C>G (p.Ala514=)
c.1488C>G (p.Ala496=)
c.119+198C>G
c.45C>G (p.Ala15=)
 ClinVar dbSNP
3g.52403603G=CA1364836676BAP1c.1542C= (p.Ala514=)
c.1488C= (p.Ala496=)
c.119+198C=
c.45C= (p.Ala15=)
3g.52403603G>TCA433886088BAP1c.1542C>A (p.Ala514=)
c.1488C>A (p.Ala496=)
c.119+198C>A
c.45C>A (p.Ala15=)
3g.52403604delCA645529909BAP1c.1542del (p.Asn515ThrfsTer?)
c.1488del (p.Asn497ThrfsTer?)
c.119+198del
c.45del (p.Asn16ThrfsTer?)
 COSMIC
3g.52403604G>ACA353100765BAP1c.1541C>T (p.Ala514Val)
c.1487C>T (p.Ala496Val)
c.119+197C>T
c.44C>T (p.Ala15Val)
 dbSNP
3g.52403604G>CCA353100766BAP1c.1541C>G (p.Ala514Gly)
c.1487C>G (p.Ala496Gly)
c.119+197C>G
c.44C>G (p.Ala15Gly)
 ClinVar
3g.52403604G>TCA353100767BAP1c.1541C>A (p.Ala514Asp)
c.1487C>A (p.Ala496Asp)
c.119+197C>A
c.44C>A (p.Ala15Asp)
3g.52403605C>ACA353100768BAP1c.1540G>T (p.Ala514Ser)
c.1486G>T (p.Ala496Ser)
c.119+196G>T
c.43G>T (p.Ala15Ser)
 ClinVar
3g.52403605C>GCA353100770BAP1c.1540G>C (p.Ala514Pro)
c.1486G>C (p.Ala496Pro)
c.119+196G>C
c.43G>C (p.Ala15Pro)
 dbSNP
3g.52403605C>TCA353100769BAP1c.1540G>A (p.Ala514Thr)
c.1486G>A (p.Ala496Thr)
c.119+196G>A
c.43G>A (p.Ala15Thr)
 dbSNP
3g.52403606T>ACA433886105BAP1c.1539A>T (p.Ser513=)
c.1485A>T (p.Ser495=)
c.119+195A>T
c.42A>T (p.Ser14=)
3g.52403606T>CCA433886110BAP1c.1539A>G (p.Ser513=)
c.1485A>G (p.Ser495=)
c.119+195A>G
c.42A>G (p.Ser14=)
 dbSNP gnomAD v2 gnomAD v4
3g.52403606T>GCA433886112BAP1c.1539A>C (p.Ser513=)
c.1485A>C (p.Ser495=)
c.119+195A>C
c.42A>C (p.Ser14=)
3g.52403606T=CA1364836679BAP1c.1539A= (p.Ser513=)
c.1485A= (p.Ser495=)
c.119+195A=
c.42A= (p.Ser14=)
3g.52403607G>ACA353100772BAP1c.1538C>T (p.Ser513Leu)
c.1484C>T (p.Ser495Leu)
c.119+194C>T
c.41C>T (p.Ser14Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403607G>CCA353100774BAP1c.1538C>G (p.Ser513Ter)
c.1484C>G (p.Ser495Ter)
c.119+194C>G
c.41C>G (p.Ser14Ter)
 gnomAD v4 COSMIC
3g.52403607G=CA1364836682BAP1c.1538C= (p.Ser513=)
c.1484C= (p.Ser495=)
c.119+194C=
c.41C= (p.Ser14=)
3g.52403607G>TCA353100775BAP1c.1538C>A (p.Ser513Ter)
c.1484C>A (p.Ser495Ter)
c.119+194C>A
c.41C>A (p.Ser14Ter)
3g.52403608A=CA1364836687BAP1c.1537T= (p.Ser513=)
c.1483T= (p.Ser495=)
c.119+193T=
c.40T= (p.Ser14=)
3g.52403608A>CCA353100779BAP1c.1537T>G (p.Ser513Ala)
c.1483T>G (p.Ser495Ala)
c.119+193T>G
c.40T>G (p.Ser14Ala)
3g.52403608A>GCA2436782BAP1c.1537T>C (p.Ser513Pro)
c.1483T>C (p.Ser495Pro)
c.119+193T>C
c.40T>C (p.Ser14Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403608A>TCA353100782BAP1c.1537T>A (p.Ser513Thr)
c.1483T>A (p.Ser495Thr)
c.119+193T>A
c.40T>A (p.Ser14Thr)
3g.52403609G>ACA2436783BAP1c.1536C>T (p.Arg512=)
c.1482C>T (p.Arg494=)
c.119+192C>T
c.39C>T (p.Arg13=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.52403609G>CCA433886126BAP1c.1536C>G (p.Arg512=)
c.1482C>G (p.Arg494=)
c.119+192C>G
c.39C>G (p.Arg13=)
3g.52403609G=CA1364836691BAP1c.1536C= (p.Arg512=)
c.1482C= (p.Arg494=)
c.119+192C=
c.39C= (p.Arg13=)
3g.52403609G>TCA433886121BAP1c.1536C>A (p.Arg512=)
c.1482C>A (p.Arg494=)
c.119+192C>A
c.39C>A (p.Arg13=)
 dbSNP
3g.52403610C>ACA353100787BAP1c.1535G>T (p.Arg512Leu)
c.1481G>T (p.Arg494Leu)
c.119+191G>T
c.38G>T (p.Arg13Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403610C=CA1364836697BAP1c.1535G= (p.Arg512=)
c.1481G= (p.Arg494=)
c.119+191G=
c.38G= (p.Arg13=)
3g.52403610C>GCA353100789BAP1c.1535G>C (p.Arg512Pro)
c.1481G>C (p.Arg494Pro)
c.119+191G>C
c.38G>C (p.Arg13Pro)
 dbSNP
3g.52403610C>TCA2436784BAP1c.1535G>A (p.Arg512His)
c.1481G>A (p.Arg494His)
c.119+191G>A
c.38G>A (p.Arg13His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403611G>ACA2436785BAP1c.1534C>T (p.Arg512Cys)
c.1480C>T (p.Arg494Cys)
c.119+190C>T
c.37C>T (p.Arg13Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403611G>CCA353100795BAP1c.1534C>G (p.Arg512Gly)
c.1480C>G (p.Arg494Gly)
c.119+190C>G
c.37C>G (p.Arg13Gly)
3g.52403611G=CA1364836702BAP1c.1534C= (p.Arg512=)
c.1480C= (p.Arg494=)
c.119+190C=
c.37C= (p.Arg13=)
3g.52403611G>TCA353100794BAP1c.1534C>A (p.Arg512Ser)
c.1480C>A (p.Arg494Ser)
c.119+190C>A
c.37C>A (p.Arg13Ser)
3g.52403612G>ACA433886138BAP1c.1533C>T (p.Ile511=)
c.1479C>T (p.Ile493=)
c.119+189C>T
c.36C>T (p.Ile12=)
3g.52403612G>CCA2436786BAP1c.1533C>G (p.Ile511Met)
c.1479C>G (p.Ile493Met)
c.119+189C>G
c.36C>G (p.Ile12Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403612G=CA1364836704BAP1c.1533C= (p.Ile511=)
c.1479C= (p.Ile493=)
c.119+189C=
c.36C= (p.Ile12=)
3g.52403612G>TCA2436787BAP1c.1533C>A (p.Ile511=)
c.1479C>A (p.Ile493=)
c.119+189C>A
c.36C>A (p.Ile12=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403612_52403613insGACA2586972741BAP1c.1532_1533insTC (p.Arg512ProfsTer?)
c.1478_1479insTC (p.Arg494ProfsTer?)
c.119+188_119+189insTC
c.35_36insTC (p.Arg13ProfsTer?)
3g.52403613A>CCA353100799BAP1c.1532T>G (p.Ile511Ser)
c.1478T>G (p.Ile493Ser)
c.119+188T>G
c.35T>G (p.Ile12Ser)
3g.52403613A>GCA353100801BAP1c.1532T>C (p.Ile511Thr)
c.1478T>C (p.Ile493Thr)
c.119+188T>C
c.35T>C (p.Ile12Thr)
3g.52403613A>TCA353100800BAP1c.1532T>A (p.Ile511Asn)
c.1478T>A (p.Ile493Asn)
c.119+188T>A
c.35T>A (p.Ile12Asn)
3g.52403614T>ACA353100804BAP1c.1531A>T (p.Ile511Phe)
c.1477A>T (p.Ile493Phe)
c.119+187A>T
c.34A>T (p.Ile12Phe)
3g.52403614T>CCA353100808BAP1c.1531A>G (p.Ile511Val)
c.1477A>G (p.Ile493Val)
c.119+187A>G
c.34A>G (p.Ile12Val)
 ClinVar dbSNP
3g.52403614T>GCA353100805BAP1c.1531A>C (p.Ile511Leu)
c.1477A>C (p.Ile493Leu)
c.119+187A>C
c.34A>C (p.Ile12Leu)
 ClinVar dbSNP gnomAD v4
3g.52403614T=CA1364836707BAP1c.1531A= (p.Ile511=)
c.1477A= (p.Ile493=)
c.119+187A=
c.34A= (p.Ile12=)
3g.52403615delCA2586972742BAP1c.1530del (p.Ile511SerfsTer?)
c.1476del (p.Ile493SerfsTer?)
c.119+186del
c.33del (p.Ile12SerfsTer?)
3g.52403615A>CCA433886149BAP1c.1530T>G (p.Pro510=)
c.1476T>G (p.Pro492=)
c.119+186T>G
c.33T>G (p.Pro11=)
3g.52403615A>GCA433886152BAP1c.1530T>C (p.Pro510=)
c.1476T>C (p.Pro492=)
c.119+186T>C
c.33T>C (p.Pro11=)
3g.52403615A>TCA433886151BAP1c.1530T>A (p.Pro510=)
c.1476T>A (p.Pro492=)
c.119+186T>A
c.33T>A (p.Pro11=)
3g.52403616G>ACA353100809BAP1c.1529C>T (p.Pro510Leu)
c.1475C>T (p.Pro492Leu)
c.119+185C>T
c.32C>T (p.Pro11Leu)
3g.52403616G>CCA353100813BAP1c.1529C>G (p.Pro510Arg)
c.1475C>G (p.Pro492Arg)
c.119+185C>G
c.32C>G (p.Pro11Arg)
3g.52403616G>TCA353100812BAP1c.1529C>A (p.Pro510His)
c.1475C>A (p.Pro492His)
c.119+185C>A
c.32C>A (p.Pro11His)
3g.52403617G>ACA353100814BAP1c.1528C>T (p.Pro510Ser)
c.1474C>T (p.Pro492Ser)
c.119+184C>T
c.31C>T (p.Pro11Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403617G>CCA353100816BAP1c.1528C>G (p.Pro510Ala)
c.1474C>G (p.Pro492Ala)
c.119+184C>G
c.31C>G (p.Pro11Ala)
3g.52403617G=CA1364836709BAP1c.1528C= (p.Pro510=)
c.1474C= (p.Pro492=)
c.119+184C=
c.31C= (p.Pro11=)
3g.52403617G>TCA2436788BAP1c.1528C>A (p.Pro510Thr)
c.1474C>A (p.Pro492Thr)
c.119+184C>A
c.31C>A (p.Pro11Thr)
 dbSNP ExAC
3g.52403618C>ACA433886159BAP1c.1527G>T (p.Ser509=)
c.1473G>T (p.Ser491=)
c.119+183G>T
c.30G>T (p.Ser10=)
 ClinVar
3g.52403618C=CA1364836712BAP1c.1527G= (p.Ser509=)
c.1473G= (p.Ser491=)
c.119+183G=
c.30G= (p.Ser10=)
3g.52403618C>GCA433886160BAP1c.1527G>C (p.Ser509=)
c.1473G>C (p.Ser491=)
c.119+183G>C
c.30G>C (p.Ser10=)
 ClinVar dbSNP
3g.52403618C>TCA74740723BAP1c.1527G>A (p.Ser509=)
c.1473G>A (p.Ser491=)
c.119+183G>A
c.30G>A (p.Ser10=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403619G>ACA353100822BAP1c.1526C>T (p.Ser509Leu)
c.1472C>T (p.Ser491Leu)
c.119+182C>T
c.29C>T (p.Ser10Leu)
 ClinVar dbSNP gnomAD v4
3g.52403619G>CCA353100825BAP1c.1526C>G (p.Ser509Trp)
c.1472C>G (p.Ser491Trp)
c.119+182C>G
c.29C>G (p.Ser10Trp)
3g.52403619G=CA1364836715BAP1c.1526C= (p.Ser509=)
c.1472C= (p.Ser491=)
c.119+182C=
c.29C= (p.Ser10=)
3g.52403619G>TCA353100828BAP1c.1526C>A (p.Ser509Ter)
c.1472C>A (p.Ser491Ter)
c.119+182C>A
c.29C>A (p.Ser10Ter)
 ClinVar COSMIC
3g.52403620A>CCA353100830BAP1c.1525T>G (p.Ser509Ala)
c.1471T>G (p.Ser491Ala)
c.119+181T>G
c.28T>G (p.Ser10Ala)
3g.52403620A>GCA353100833BAP1c.1525T>C (p.Ser509Pro)
c.1471T>C (p.Ser491Pro)
c.119+181T>C
c.28T>C (p.Ser10Pro)
3g.52403620A>TCA353100836BAP1c.1525T>A (p.Ser509Thr)
c.1471T>A (p.Ser491Thr)
c.119+181T>A
c.28T>A (p.Ser10Thr)
3g.52403621G>ACA433886167BAP1c.1524C>T (p.Arg508=)
c.1470C>T (p.Arg490=)
c.119+180C>T
c.27C>T (p.Arg9=)
 dbSNP
3g.52403621G>CCA433886168BAP1c.1524C>G (p.Arg508=)
c.1470C>G (p.Arg490=)
c.119+180C>G
c.27C>G (p.Arg9=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403621G=CA1364836718BAP1c.1524C= (p.Arg508=)
c.1470C= (p.Arg490=)
c.119+180C=
c.27C= (p.Arg9=)
3g.52403621G>TCA433886170BAP1c.1524C>A (p.Arg508=)
c.1470C>A (p.Arg490=)
c.119+180C>A
c.27C>A (p.Arg9=)
3g.52403622delCA2580070228BAP1c.1523del (p.Arg508ProfsTer?)
c.1469del (p.Arg490ProfsTer?)
c.119+179del
c.26del (p.Arg9ProfsTer?)
 ClinVar
3g.52403622C>ACA353100839BAP1c.1523G>T (p.Arg508Leu)
c.1469G>T (p.Arg490Leu)
c.119+179G>T
c.26G>T (p.Arg9Leu)
3g.52403622C=CA1364836721BAP1c.1523G= (p.Arg508=)
c.1469G= (p.Arg490=)
c.119+179G=
c.26G= (p.Arg9=)
3g.52403622C>GCA353100841BAP1c.1523G>C (p.Arg508Pro)
c.1469G>C (p.Arg490Pro)
c.119+179G>C
c.26G>C (p.Arg9Pro)
 dbSNP
3g.52403622C>TCA353100842BAP1c.1523G>A (p.Arg508His)
c.1469G>A (p.Arg490His)
c.119+179G>A
c.26G>A (p.Arg9His)
 ClinVar dbSNP gnomAD v4
3g.52403623G>ACA74740729BAP1c.1522C>T (p.Arg508Cys)
c.1468C>T (p.Arg490Cys)
c.119+178C>T
c.25C>T (p.Arg9Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403623G>CCA353100846BAP1c.1522C>G (p.Arg508Gly)
c.1468C>G (p.Arg490Gly)
c.119+178C>G
c.25C>G (p.Arg9Gly)
3g.52403623G=CA1364836723BAP1c.1522C= (p.Arg508=)
c.1468C= (p.Arg490=)
c.119+178C=
c.25C= (p.Arg9=)
3g.52403623G>TCA353100847BAP1c.1522C>A (p.Arg508Ser)
c.1468C>A (p.Arg490Ser)
c.119+178C>A
c.25C>A (p.Arg9Ser)
3g.52403624_52403628delCA645529910BAP1c.1518_1522del (p.Arg508AlafsTer27)
c.1464_1468del (p.Arg490AlafsTer27)
c.119+174_119+178del
c.21_25del (p.Arg9AlafsTer27)
 COSMIC
3g.52403624C>ACA433886177BAP1c.1521G>T (p.Leu507=)
c.1467G>T (p.Leu489=)
c.119+177G>T
c.24G>T (p.Leu8=)
 ClinVar dbSNP
3g.52403624C=CA1364836725BAP1c.1521G= (p.Leu507=)
c.1467G= (p.Leu489=)
c.119+177G=
c.24G= (p.Leu8=)
3g.52403624C>GCA433886179BAP1c.1521G>C (p.Leu507=)
c.1467G>C (p.Leu489=)
c.119+177G>C
c.24G>C (p.Leu8=)
 ClinVar dbSNP
3g.52403624C>TCA433886181BAP1c.1521G>A (p.Leu507=)
c.1467G>A (p.Leu489=)
c.119+177G>A
c.24G>A (p.Leu8=)
 ClinVar gnomAD v4
3g.52403625A=CA1364836728BAP1c.1520T= (p.Leu507=)
c.1466T= (p.Leu489=)
c.119+176T=
c.23T= (p.Leu8=)
3g.52403625A>CCA353100852BAP1c.1520T>G (p.Leu507Arg)
c.1466T>G (p.Leu489Arg)
c.119+176T>G
c.23T>G (p.Leu8Arg)
3g.52403625A>GCA353100855BAP1c.1520T>C (p.Leu507Pro)
c.1466T>C (p.Leu489Pro)
c.119+176T>C
c.23T>C (p.Leu8Pro)
 ClinVar dbSNP
3g.52403625A>TCA353100856BAP1c.1520T>A (p.Leu507Gln)
c.1466T>A (p.Leu489Gln)
c.119+176T>A
c.23T>A (p.Leu8Gln)
3g.52403626G>ACA433886183BAP1c.1519C>T (p.Leu507=)
c.1465C>T (p.Leu489=)
c.119+175C>T
c.22C>T (p.Leu8=)
 ClinVar
3g.52403626G>CCA353100859BAP1c.1519C>G (p.Leu507Val)
c.1465C>G (p.Leu489Val)
c.119+175C>G
c.22C>G (p.Leu8Val)
3g.52403626G>TCA353100861BAP1c.1519C>A (p.Leu507Met)
c.1465C>A (p.Leu489Met)
c.119+175C>A
c.22C>A (p.Leu8Met)
3g.52403627T>ACA433886187BAP1c.1518A>T (p.Pro506=)
c.1464A>T (p.Pro488=)
c.119+174A>T
c.21A>T (p.Pro7=)
 ClinVar
3g.52403627T>CCA433886189BAP1c.1518A>G (p.Pro506=)
c.1464A>G (p.Pro488=)
c.119+174A>G
c.21A>G (p.Pro7=)
 COSMIC
3g.52403627T>GCA433886190BAP1c.1518A>C (p.Pro506=)
c.1464A>C (p.Pro488=)
c.119+174A>C
c.21A>C (p.Pro7=)
3g.52403628G>ACA353100864BAP1c.1517C>T (p.Pro506Leu)
c.1463C>T (p.Pro488Leu)
c.119+173C>T
c.20C>T (p.Pro7Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403628G>CCA353100866BAP1c.1517C>G (p.Pro506Arg)
c.1463C>G (p.Pro488Arg)
c.119+173C>G
c.20C>G (p.Pro7Arg)
3g.52403628G=CA1364836730BAP1c.1517C= (p.Pro506=)
c.1463C= (p.Pro488=)
c.119+173C=
c.20C= (p.Pro7=)
3g.52403628G>TCA353100868BAP1c.1517C>A (p.Pro506Gln)
c.1463C>A (p.Pro488Gln)
c.119+173C>A
c.20C>A (p.Pro7Gln)
3g.52403629G>ACA353100872BAP1c.1516C>T (p.Pro506Ser)
c.1462C>T (p.Pro488Ser)
c.119+172C>T
c.19C>T (p.Pro7Ser)
 ClinVar
3g.52403629G>CCA353100875BAP1c.1516C>G (p.Pro506Ala)
c.1462C>G (p.Pro488Ala)
c.119+172C>G
c.19C>G (p.Pro7Ala)
3g.52403629G>TCA353100877BAP1c.1516C>A (p.Pro506Thr)
c.1462C>A (p.Pro488Thr)
c.119+172C>A
c.19C>A (p.Pro7Thr)
3g.52403630_52403631delCA2580070229BAP1c.1515_1516del (p.Pro506ThrfsTer?)
c.1461_1462del (p.Pro488ThrfsTer?)
c.119+171_119+172del
c.18_19del (p.Pro7ThrfsTer?)
 ClinVar
3g.52403630C>ACA433886193BAP1c.1515G>T (p.Ser505=)
c.1461G>T (p.Ser487=)
c.119+171G>T
c.18G>T (p.Ser6=)
 ClinVar
3g.52403630C=CA1364836734BAP1c.1515G= (p.Ser505=)
c.1461G= (p.Ser487=)
c.119+171G=
c.18G= (p.Ser6=)
3g.52403630C>GCA433886192BAP1c.1515G>C (p.Ser505=)
c.1461G>C (p.Ser487=)
c.119+171G>C
c.18G>C (p.Ser6=)
3g.52403630C>TCA2436789BAP1c.1515G>A (p.Ser505=)
c.1461G>A (p.Ser487=)
c.119+171G>A
c.18G>A (p.Ser6=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403630_52403632delinsCGACA1364836733BAP1c.1513_1515delinsTCG (p.Ser505=)
c.1459_1461delinsTCG (p.Ser487=)
c.119+169_119+171delinsTCG
c.16_18delinsTCG (p.Ser6=)
3g.52403631G>ACA353100880BAP1c.1514C>T (p.Ser505Leu)
c.1460C>T (p.Ser487Leu)
c.119+170C>T
c.17C>T (p.Ser6Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403631G>CCA353100884BAP1c.1514C>G (p.Ser505Trp)
c.1460C>G (p.Ser487Trp)
c.119+170C>G
c.17C>G (p.Ser6Trp)
3g.52403631G=CA1364836737BAP1c.1514C= (p.Ser505=)
c.1460C= (p.Ser487=)
c.119+170C=
c.17C= (p.Ser6=)
3g.52403631G>TCA353100881BAP1c.1514C>A (p.Ser505Ter)
c.1460C>A (p.Ser487Ter)
c.119+170C>A
c.17C>A (p.Ser6Ter)
 ClinVar dbSNP
3g.52403632_52403633delCA915942470BAP1c.1513_1514del (p.Ser505AlafsTer?)
c.1459_1460del (p.Ser487AlafsTer?)
c.119+169_119+170del
c.16_17del (p.Ser6AlafsTer?)
 ClinVar dbSNP
3g.52403632A>CCA353100886BAP1c.1513T>G (p.Ser505Ala)
c.1459T>G (p.Ser487Ala)
c.119+169T>G
c.16T>G (p.Ser6Ala)
3g.52403632A>GCA353100888BAP1c.1513T>C (p.Ser505Pro)
c.1459T>C (p.Ser487Pro)
c.119+169T>C
c.16T>C (p.Ser6Pro)
3g.52403632A>TCA353100891BAP1c.1513T>A (p.Ser505Thr)
c.1459T>A (p.Ser487Thr)
c.119+169T>A
c.16T>A (p.Ser6Thr)
3g.52403633G>ACA433886199BAP1c.1512C>T (p.Asn504=)
c.1458C>T (p.Asn486=)
c.119+168C>T
c.15C>T (p.Asn5=)
3g.52403633G>CCA353100894BAP1c.1512C>G (p.Asn504Lys)
c.1458C>G (p.Asn486Lys)
c.119+168C>G
c.15C>G (p.Asn5Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403633G=CA1364836740BAP1c.1512C= (p.Asn504=)
c.1458C= (p.Asn486=)
c.119+168C=
c.15C= (p.Asn5=)
3g.52403633G>TCA353100896BAP1c.1512C>A (p.Asn504Lys)
c.1458C>A (p.Asn486Lys)
c.119+168C>A
c.15C>A (p.Asn5Lys)
3g.52403634T>ACA353100900BAP1c.1511A>T (p.Asn504Ile)
c.1457A>T (p.Asn486Ile)
c.119+167A>T
c.14A>T (p.Asn5Ile)
3g.52403634T>CCA2436790BAP1c.1511A>G (p.Asn504Ser)
c.1457A>G (p.Asn486Ser)
c.119+167A>G
c.14A>G (p.Asn5Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403634T>GCA353100902BAP1c.1511A>C (p.Asn504Thr)
c.1457A>C (p.Asn486Thr)
c.119+167A>C
c.14A>C (p.Asn5Thr)
 dbSNP gnomAD v2 gnomAD v4
3g.52403634T=CA1364836742BAP1c.1511A= (p.Asn504=)
c.1457A= (p.Asn486=)
c.119+167A=
c.14A= (p.Asn5=)
3g.52403635T>ACA353100903BAP1c.1510A>T (p.Asn504Tyr)
c.1456A>T (p.Asn486Tyr)
c.119+166A>T
c.13A>T (p.Asn5Tyr)
 dbSNP
3g.52403635T>CCA353100904BAP1c.1510A>G (p.Asn504Asp)
c.1456A>G (p.Asn486Asp)
c.119+166A>G
c.13A>G (p.Asn5Asp)
3g.52403635T>GCA353100907BAP1c.1510A>C (p.Asn504His)
c.1456A>C (p.Asn486His)
c.119+166A>C
c.13A>C (p.Asn5His)
3g.52403636G>ACA433886201BAP1c.1509C>T (p.Phe503=)
c.1455C>T (p.Phe485=)
c.119+165C>T
c.12C>T (p.Phe4=)
 ClinVar
3g.52403636G>CCA353100913BAP1c.1509C>G (p.Phe503Leu)
c.1455C>G (p.Phe485Leu)
c.119+165C>G
c.12C>G (p.Phe4Leu)
 ClinVar gnomAD v4
3g.52403636G>TCA353100910BAP1c.1509C>A (p.Phe503Leu)
c.1455C>A (p.Phe485Leu)
c.119+165C>A
c.12C>A (p.Phe4Leu)
3g.52403637A>CCA353100915BAP1c.1508T>G (p.Phe503Cys)
c.1454T>G (p.Phe485Cys)
c.119+164T>G
c.11T>G (p.Phe4Cys)
3g.52403637A>GCA353100917BAP1c.1508T>C (p.Phe503Ser)
c.1454T>C (p.Phe485Ser)
c.119+164T>C
c.11T>C (p.Phe4Ser)
3g.52403637A>TCA353100918BAP1c.1508T>A (p.Phe503Tyr)
c.1454T>A (p.Phe485Tyr)
c.119+164T>A
c.11T>A (p.Phe4Tyr)
3g.52403639dupCA2697556702BAP1c.1508dup (p.Asn504GlnfsTer?)
c.1454dup (p.Asn486GlnfsTer?)
c.119+164dup
c.11dup (p.Asn5GlnfsTer?)
 ClinVar
3g.52403639delCA433886203BAP1c.1508del (p.Phe503SerfsTer?)
c.1454del (p.Phe485SerfsTer?)
c.119+164del
c.11del (p.Phe4SerfsTer?)
 COSMIC
3g.52403638A=CA1364836745BAP1c.1507T= (p.Phe503=)
c.1453T= (p.Phe485=)
c.119+163T=
c.10T= (p.Phe4=)
3g.52403638A>CCA353100921BAP1c.1507T>G (p.Phe503Val)
c.1453T>G (p.Phe485Val)
c.119+163T>G
c.10T>G (p.Phe4Val)
3g.52403638A>GCA2436791BAP1c.1507T>C (p.Phe503Leu)
c.1453T>C (p.Phe485Leu)
c.119+163T>C
c.10T>C (p.Phe4Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403638A>TCA353100925BAP1c.1507T>A (p.Phe503Ile)
c.1453T>A (p.Phe485Ile)
c.119+163T>A
c.10T>A (p.Phe4Ile)
3g.52403639A>CCA433886205BAP1c.1506T>G (p.Ala502=)
c.1452T>G (p.Ala484=)
c.119+162T>G
c.9T>G (p.Ala3=)
3g.52403639A>GCA433886206BAP1c.1506T>C (p.Ala502=)
c.1452T>C (p.Ala484=)
c.119+162T>C
c.9T>C (p.Ala3=)
3g.52403639A>TCA433886207BAP1c.1506T>A (p.Ala502=)
c.1452T>A (p.Ala484=)
c.119+162T>A
c.9T>A (p.Ala3=)
3g.52403640G>ACA353100928BAP1c.1505C>T (p.Ala502Val)
c.1451C>T (p.Ala484Val)
c.119+161C>T
c.8C>T (p.Ala3Val)
 ClinVar dbSNP
3g.52403640G>CCA353100930BAP1c.1505C>G (p.Ala502Gly)
c.1451C>G (p.Ala484Gly)
c.119+161C>G
c.8C>G (p.Ala3Gly)
 ClinVar dbSNP gnomAD v4
3g.52403640G>TCA353100933BAP1c.1505C>A (p.Ala502Asp)
c.1451C>A (p.Ala484Asp)
c.119+161C>A
c.8C>A (p.Ala3Asp)
 ClinVar
3g.52403641C>ACA353100936BAP1c.1504G>T (p.Ala502Ser)
c.1450G>T (p.Ala484Ser)
c.119+160G>T
c.7G>T (p.Ala3Ser)
3g.52403641C>GCA353100937BAP1c.1504G>C (p.Ala502Pro)
c.1450G>C (p.Ala484Pro)
c.119+160G>C
c.7G>C (p.Ala3Pro)
3g.52403641C>TCA353100938BAP1c.1504G>A (p.Ala502Thr)
c.1450G>A (p.Ala484Thr)
c.119+160G>A
c.7G>A (p.Ala3Thr)
 ClinVar
3g.52403642A=CA1364836748BAP1c.1503T= (p.Ser501=)
c.1449T= (p.Ser483=)
c.119+159T=
c.6T= (p.Ser2=)
3g.52403642A>CCA74740732BAP1c.1503T>G (p.Ser501Arg)
c.1449T>G (p.Ser483Arg)
c.119+159T>G
c.6T>G (p.Ser2Arg)
 dbSNP
3g.52403642A>GCA433886211BAP1c.1503T>C (p.Ser501=)
c.1449T>C (p.Ser483=)
c.119+159T>C
c.6T>C (p.Ser2=)
3g.52403642A>TCA353100939BAP1c.1503T>A (p.Ser501Arg)
c.1449T>A (p.Ser483Arg)
c.119+159T>A
c.6T>A (p.Ser2Arg)
 dbSNP
3g.52403643C>ACA353100950BAP1c.1502G>T (p.Ser501Ile)
c.1448G>T (p.Ser483Ile)
c.119+158G>T
c.5G>T (p.Ser2Ile)
3g.52403643C>GCA353100955BAP1c.1502G>C (p.Ser501Thr)
c.1448G>C (p.Ser483Thr)
c.119+158G>C
c.5G>C (p.Ser2Thr)
3g.52403643C>TCA353100953BAP1c.1502G>A (p.Ser501Asn)
c.1448G>A (p.Ser483Asn)
c.119+158G>A
c.5G>A (p.Ser2Asn)

Number of alleles fetched