Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
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)

Number of alleles fetched