Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.52403404T>ACA2702831608BAP1c.1729+12A>T (n.1729+12A>T)
c.1675+12A>T (n.1675+12A>T)
n.136+12A>T
c.119+397A>T
c.232+12A>T (n.232+12A>T)
 dbSNP
3g.52403404T>CCA2702831707BAP1c.1729+12A>G (n.1729+12A>G)
c.1675+12A>G (n.1675+12A>G)
n.136+12A>G
c.119+397A>G
c.232+12A>G (n.232+12A>G)
 dbSNP
3g.52403404T>GCA2666009677BAP1c.1729+12A>C (n.1729+12A>C)
c.1675+12A>C (n.1675+12A>C)
n.136+12A>C
c.119+397A>C
c.232+12A>C (n.232+12A>C)
 dbSNP gnomAD v4
3g.52403405C>ACA2702578037BAP1c.1729+11G>T (n.1729+11G>T)
c.1675+11G>T (n.1675+11G>T)
n.136+11G>T
c.119+396G>T
c.232+11G>T (n.232+11G>T)
 dbSNP
3g.52403405C=CA1364836247BAP1c.1729+11G= (n.1729+11G=)
c.1675+11G= (n.1675+11G=)
n.136+11G=
c.119+396G=
c.232+11G= (n.232+11G=)
3g.52403405C>GCA2702578039BAP1c.1729+11G>C (n.1729+11G>C)
c.1675+11G>C (n.1675+11G>C)
n.136+11G>C
c.119+396G>C
c.232+11G>C (n.232+11G>C)
 dbSNP
3g.52403405C>TCA913188132BAP1c.1729+11G>A (n.1729+11G>A)
c.1675+11G>A (n.1675+11G>A)
n.136+11G>A
c.119+396G>A
c.232+11G>A (n.232+11G>A)
 ClinVar dbSNP gnomAD v4
3g.52403406dupCA2666009679BAP1c.1729+11dup (n.1729+11dup)
c.1675+11dup (n.1675+11dup)
n.136+11dup
c.119+396dup
c.232+11dup (n.232+11dup)
 gnomAD v4
3g.52403406C>ACA2702558973BAP1c.1729+10G>T (n.1729+10G>T)
c.1675+10G>T (n.1675+10G>T)
n.136+10G>T
c.119+395G>T
c.232+10G>T (n.232+10G>T)
 dbSNP
3g.52403406C=CA1364836250BAP1c.1729+10G= (n.1729+10G=)
c.1675+10G= (n.1675+10G=)
n.136+10G=
c.119+395G=
c.232+10G= (n.232+10G=)
3g.52403406C>GCA2702558972BAP1c.1729+10G>C (n.1729+10G>C)
c.1675+10G>C (n.1675+10G>C)
n.136+10G>C
c.119+395G>C
c.232+10G>C (n.232+10G>C)
 dbSNP
3g.52403406C>TCA908132567BAP1c.1729+10G>A (n.1729+10G>A)
c.1675+10G>A (n.1675+10G>A)
n.136+10G>A
c.119+395G>A
c.232+10G>A (n.232+10G>A)
 ClinVar dbSNP
3g.52403407A=CA1364836253BAP1c.1729+9T= (n.1729+9T=)
c.1675+9T= (n.1675+9T=)
n.136+9T=
c.119+394T=
c.232+9T= (n.232+9T=)
3g.52403407A>GCA543056597BAP1c.1729+9T>C (n.1729+9T>C)
c.1675+9T>C (n.1675+9T>C)
n.136+9T>C
c.119+394T>C
c.232+9T>C (n.232+9T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403408A=CA1364836257BAP1c.1729+8T= (n.1729+8T=)
c.1675+8T= (n.1675+8T=)
n.136+8T=
c.119+393T=
c.232+8T= (n.232+8T=)
3g.52403408A>CCA2702540301BAP1c.1729+8T>G (n.1729+8T>G)
c.1675+8T>G (n.1675+8T>G)
n.136+8T>G
c.119+393T>G
c.232+8T>G (n.232+8T>G)
 dbSNP
3g.52403408A>GCA2436747BAP1c.1729+8T>C (n.1729+8T>C)
c.1675+8T>C (n.1675+8T>C)
n.136+8T>C
c.119+393T>C
c.232+8T>C (n.232+8T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403408A>TCA2702540300BAP1c.1729+8T>A (n.1729+8T>A)
c.1675+8T>A (n.1675+8T>A)
n.136+8T>A
c.119+393T>A
c.232+8T>A (n.232+8T>A)
 dbSNP
3g.52403409G>ACA2499216937BAP1c.1729+7C>T (n.1729+7C>T)
c.1675+7C>T (n.1675+7C>T)
n.136+7C>T
c.119+392C>T
c.232+7C>T (n.232+7C>T)
 ClinVar dbSNP
3g.52403409G>CCA2702831806BAP1c.1729+7C>G (n.1729+7C>G)
c.1675+7C>G (n.1675+7C>G)
n.136+7C>G
c.119+392C>G
c.232+7C>G (n.232+7C>G)
 dbSNP
3g.52403409G>TCA2577781232BAP1c.1729+7C>A (n.1729+7C>A)
c.1675+7C>A (n.1675+7C>A)
n.136+7C>A
c.119+392C>A
c.232+7C>A (n.232+7C>A)
 dbSNP
3g.52403410G>ACA1364836265BAP1c.1729+6C>T (n.1729+6C>T)
c.1675+6C>T (n.1675+6C>T)
n.136+6C>T
c.119+391C>T
c.232+6C>T (n.232+6C>T)
 ClinVar dbSNP
3g.52403410G>CCA2580070223BAP1c.1729+6C>G (n.1729+6C>G)
c.1675+6C>G (n.1675+6C>G)
n.136+6C>G
c.119+391C>G
c.232+6C>G (n.232+6C>G)
 ClinVar
3g.52403410G=CA1364836264BAP1c.1729+6C= (n.1729+6C=)
c.1675+6C= (n.1675+6C=)
n.136+6C=
c.119+391C=
c.232+6C= (n.232+6C=)
3g.52403411C>ACA2702832187BAP1c.1729+5G>T (n.1729+5G>T)
c.1675+5G>T (n.1675+5G>T)
n.136+5G>T
c.119+390G>T
c.232+5G>T (n.232+5G>T)
 dbSNP
3g.52403411C>GCA2702832186BAP1c.1729+5G>C (n.1729+5G>C)
c.1675+5G>C (n.1675+5G>C)
n.136+5G>C
c.119+390G>C
c.232+5G>C (n.232+5G>C)
 dbSNP
3g.52403411C>TCA2666009700BAP1c.1729+5G>A (n.1729+5G>A)
c.1675+5G>A (n.1675+5G>A)
n.136+5G>A
c.119+390G>A
c.232+5G>A (n.232+5G>A)
 dbSNP gnomAD v4
3g.52403412C>ACA2702832189BAP1c.1729+4G>T (n.1729+4G>T)
c.1675+4G>T (n.1675+4G>T)
n.136+4G>T
c.119+389G>T
c.232+4G>T (n.232+4G>T)
 dbSNP
3g.52403412C>GCA2702832188BAP1c.1729+4G>C (n.1729+4G>C)
c.1675+4G>C (n.1675+4G>C)
n.136+4G>C
c.119+389G>C
c.232+4G>C (n.232+4G>C)
 dbSNP
3g.52403413C>ACA2702832278BAP1c.1729+3G>T (n.1729+3G>T)
c.1675+3G>T (n.1675+3G>T)
n.136+3G>T
c.119+388G>T
c.232+3G>T (n.232+3G>T)
 dbSNP
3g.52403413C>TCA2573137321BAP1c.1729+3G>A (n.1729+3G>A)
c.1675+3G>A (n.1675+3G>A)
n.136+3G>A
c.119+388G>A
c.232+3G>A (n.232+3G>A)
 ClinVar dbSNP
3g.52403414A=CA1364836271BAP1c.1729+2T= (n.1729+2T=)
c.1675+2T= (n.1675+2T=)
n.136+2T=
c.119+387T=
c.232+2T= (n.232+2T=)
3g.52403414A>CCA353099468BAP1c.1729+2T>G (n.1729+2T>G)
c.1675+2T>G (n.1675+2T>G)
n.136+2T>G
c.119+387T>G
c.232+2T>G (n.232+2T>G)
 dbSNP
3g.52403414A>GCA353099473BAP1c.1729+2T>C (n.1729+2T>C)
c.1675+2T>C (n.1675+2T>C)
n.136+2T>C
c.119+387T>C
c.232+2T>C (n.232+2T>C)
 dbSNP
3g.52403414A>TCA353099470BAP1c.1729+2T>A (n.1729+2T>A)
c.1675+2T>A (n.1675+2T>A)
n.136+2T>A
c.119+387T>A
c.232+2T>A (n.232+2T>A)
 dbSNP
3g.52403414_52403415delinsACCA1364836269BAP1c.1729+1_1729+2delinsGT (n.1729+1_1729+2delinsGT)
c.1675+1_1675+2delinsGT (n.1675+1_1675+2delinsGT)
n.136+1_136+2delinsGT
c.119+386_119+387delinsGT
c.232+1_232+2delinsGT (n.232+1_232+2delinsGT)
3g.52403415C>ACA353099477BAP1c.1729+1G>T (n.1729+1G>T)
c.1675+1G>T (n.1675+1G>T)
n.136+1G>T
c.119+386G>T
c.232+1G>T (n.232+1G>T)
 dbSNP COSMIC
3g.52403415C=CA1364836280BAP1c.1729+1G= (n.1729+1G=)
c.1675+1G= (n.1675+1G=)
n.136+1G=
c.119+386G=
c.232+1G= (n.232+1G=)
3g.52403415C>GCA353099483BAP1c.1729+1G>C (n.1729+1G>C)
c.1675+1G>C (n.1675+1G>C)
n.136+1G>C
c.119+386G>C
c.232+1G>C (n.232+1G>C)
 dbSNP
3g.52403415C>TCA353099480BAP1c.1729+1G>A (n.1729+1G>A)
c.1675+1G>A (n.1675+1G>A)
n.136+1G>A
c.119+386G>A
c.232+1G>A (n.232+1G>A)
 ClinVar dbSNP
3g.52403416dupCA1139658113BAP1c.1729+1dup
c.1675+1dup
n.136+1dup
c.119+386dup
c.232+1dup
 ClinVar dbSNP
3g.52403416delCA891842891BAP1c.1729+1del
c.1675+1del
n.136+1del
c.119+386del
c.232+1del
 ClinVar dbSNP
3g.52403416C>ACA353099498BAP1c.1729G>T (p.Glu577Ter)
c.1675G>T (p.Glu559Ter)
n.136G>T
c.119+385G>T
c.232G>T (p.Glu78Ter)
 ClinVar dbSNP gnomAD v4
3g.52403416C=CA1364836287BAP1c.1729G= (p.Glu577=)
c.1675G= (p.Glu559=)
n.136G=
c.119+385G=
c.232G= (p.Glu78=)
3g.52403416C>GCA353099500BAP1c.1729G>C (p.Glu577Gln)
c.1675G>C (p.Glu559Gln)
n.136G>C
c.119+385G>C
c.232G>C (p.Glu78Gln)
 COSMIC
3g.52403416C>TCA353099504BAP1c.1729G>A (p.Glu577Lys)
c.1675G>A (p.Glu559Lys)
n.136G>A
c.119+385G>A
c.232G>A (p.Glu78Lys)
 ClinVar dbSNP
3g.52403417T>ACA433885750BAP1c.1728A>T (p.Thr576=)
c.1674A>T (p.Thr558=)
n.135A>T
c.119+384A>T
c.231A>T (p.Thr77=)
 dbSNP
3g.52403417T>CCA433885749BAP1c.1728A>G (p.Thr576=)
c.1674A>G (p.Thr558=)
n.135A>G
c.119+384A>G
c.231A>G (p.Thr77=)
 dbSNP
3g.52403417T>GCA433885748BAP1c.1728A>C (p.Thr576=)
c.1674A>C (p.Thr558=)
n.135A>C
c.119+384A>C
c.231A>C (p.Thr77=)
3g.52403418G>ACA2436748BAP1c.1727C>T (p.Thr576Ile)
c.1673C>T (p.Thr558Ile)
n.134C>T
c.119+383C>T
c.230C>T (p.Thr77Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403418G>CCA353099509BAP1c.1727C>G (p.Thr576Arg)
c.1673C>G (p.Thr558Arg)
n.134C>G
c.119+383C>G
c.230C>G (p.Thr77Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403418G=CA1364836298BAP1c.1727C= (p.Thr576=)
c.1673C= (p.Thr558=)
n.134C=
c.119+383C=
c.230C= (p.Thr77=)
3g.52403418G>TCA353099511BAP1c.1727C>A (p.Thr576Lys)
c.1673C>A (p.Thr558Lys)
n.134C>A
c.119+383C>A
c.230C>A (p.Thr77Lys)
 gnomAD v4
3g.52403419T>ACA353099516BAP1c.1726A>T (p.Thr576Ser)
c.1672A>T (p.Thr558Ser)
n.133A>T
c.119+382A>T
c.229A>T (p.Thr77Ser)
 dbSNP
3g.52403419T>CCA353099518BAP1c.1726A>G (p.Thr576Ala)
c.1672A>G (p.Thr558Ala)
n.133A>G
c.119+382A>G
c.229A>G (p.Thr77Ala)
 dbSNP
3g.52403419T>GCA353099524BAP1c.1726A>C (p.Thr576Pro)
c.1672A>C (p.Thr558Pro)
n.133A>C
c.119+382A>C
c.229A>C (p.Thr77Pro)
 ClinVar dbSNP gnomAD v4
3g.52403420C>ACA433885755BAP1c.1725G>T (p.Leu575=)
c.1671G>T (p.Leu557=)
n.132G>T
c.119+381G>T
c.228G>T (p.Leu76=)
 dbSNP
3g.52403420C=CA1364836310BAP1c.1725G= (p.Leu575=)
c.1671G= (p.Leu557=)
n.132G=
c.119+381G=
c.228G= (p.Leu76=)
3g.52403420C>GCA433885756BAP1c.1725G>C (p.Leu575=)
c.1671G>C (p.Leu557=)
n.132G>C
c.119+381G>C
c.228G>C (p.Leu76=)
3g.52403420C>TCA2436749BAP1c.1725G>A (p.Leu575=)
c.1671G>A (p.Leu557=)
n.132G>A
c.119+381G>A
c.228G>A (p.Leu76=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403421A>CCA353099529BAP1c.1724T>G (p.Leu575Arg)
c.1670T>G (p.Leu557Arg)
n.131T>G
c.119+380T>G
c.227T>G (p.Leu76Arg)
 ClinVar
3g.52403421A>GCA353099532BAP1c.1724T>C (p.Leu575Pro)
c.1670T>C (p.Leu557Pro)
n.131T>C
c.119+380T>C
c.227T>C (p.Leu76Pro)
 ClinVar dbSNP
3g.52403421A>TCA353099537BAP1c.1724T>A (p.Leu575Gln)
c.1670T>A (p.Leu557Gln)
n.131T>A
c.119+380T>A
c.227T>A (p.Leu76Gln)
 dbSNP
3g.52403421_52403423delinsAGCCA1364836318BAP1c.1722_1724delinsGCT (p.Ala574=)
c.1668_1670delinsGCT (p.Ala556=)
n.129_131delinsGCT
c.119+378_119+380delinsGCT
c.225_227delinsGCT (p.Ala75=)
3g.52403421_52403423delinsCGTCA658683347BAP1c.1722_1724delinsACG (p.Leu575Arg)
c.1668_1670delinsACG (p.Leu557Arg)
n.129_131delinsACG
c.119+378_119+380delinsACG
c.225_227delinsACG (p.Leu76Arg)
 ClinVar dbSNP
3g.52403422G>ACA433885757BAP1c.1723C>T (p.Leu575=)
c.1669C>T (p.Leu557=)
n.130C>T
c.119+379C>T
c.226C>T (p.Leu76=)
 dbSNP
3g.52403422G>CCA353099540BAP1c.1723C>G (p.Leu575Val)
c.1669C>G (p.Leu557Val)
n.130C>G
c.119+379C>G
c.226C>G (p.Leu76Val)
 dbSNP
3g.52403422G>TCA353099543BAP1c.1723C>A (p.Leu575Met)
c.1669C>A (p.Leu557Met)
n.130C>A
c.119+379C>A
c.226C>A (p.Leu76Met)
3g.52403423C>ACA433885759BAP1c.1722G>T (p.Ala574=)
c.1668G>T (p.Ala556=)
n.129G>T
c.119+378G>T
c.225G>T (p.Ala75=)
 ClinVar dbSNP
3g.52403423C=CA1364836324BAP1c.1722G= (p.Ala574=)
c.1668G= (p.Ala556=)
n.129G=
c.119+378G=
c.225G= (p.Ala75=)
3g.52403423C>GCA433885760BAP1c.1722G>C (p.Ala574=)
c.1668G>C (p.Ala556=)
n.129G>C
c.119+378G>C
c.225G>C (p.Ala75=)
 ClinVar dbSNP
3g.52403423C>TCA2436750BAP1c.1722G>A (p.Ala574=)
c.1668G>A (p.Ala556=)
n.129G>A
c.119+378G>A
c.225G>A (p.Ala75=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403424G>ACA2436751BAP1c.1721C>T (p.Ala574Val)
c.1667C>T (p.Ala556Val)
n.128C>T
c.119+377C>T
c.224C>T (p.Ala75Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403424G>CCA353099563BAP1c.1721C>G (p.Ala574Gly)
c.1667C>G (p.Ala556Gly)
n.128C>G
c.119+377C>G
c.224C>G (p.Ala75Gly)
 dbSNP
3g.52403424G=CA1364836331BAP1c.1721C= (p.Ala574=)
c.1667C= (p.Ala556=)
n.128C=
c.119+377C=
c.224C= (p.Ala75=)
3g.52403424G>TCA16611519BAP1c.1721C>A (p.Ala574Glu)
c.1667C>A (p.Ala556Glu)
n.128C>A
c.119+377C>A
c.224C>A (p.Ala75Glu)
 ClinVar dbSNP gnomAD v4
3g.52403425C>ACA353099564BAP1c.1720G>T (p.Ala574Ser)
c.1666G>T (p.Ala556Ser)
n.127G>T
c.119+376G>T
c.223G>T (p.Ala75Ser)
 dbSNP
3g.52403425C=CA1364836338BAP1c.1720G= (p.Ala574=)
c.1666G= (p.Ala556=)
n.127G=
c.119+376G=
c.223G= (p.Ala75=)
3g.52403425C>GCA353099565BAP1c.1720G>C (p.Ala574Pro)
c.1666G>C (p.Ala556Pro)
n.127G>C
c.119+376G>C
c.223G>C (p.Ala75Pro)
 ClinVar dbSNP
3g.52403425C>TCA353099567BAP1c.1720G>A (p.Ala574Thr)
c.1666G>A (p.Ala556Thr)
n.127G>A
c.119+376G>A
c.223G>A (p.Ala75Thr)
 ClinVar dbSNP gnomAD v4
3g.52403426C>ACA433885767BAP1c.1719G>T (p.Leu573=)
c.1665G>T (p.Leu555=)
n.126G>T
c.119+375G>T
c.222G>T (p.Leu74=)
 ClinVar dbSNP
3g.52403426C>GCA433885768BAP1c.1719G>C (p.Leu573=)
c.1665G>C (p.Leu555=)
n.126G>C
c.119+375G>C
c.222G>C (p.Leu74=)
 dbSNP
3g.52403426C>TCA433885769BAP1c.1719G>A (p.Leu573=)
c.1665G>A (p.Leu555=)
n.126G>A
c.119+375G>A
c.222G>A (p.Leu74=)
 ClinVar dbSNP
3g.52403427A>CCA353099569BAP1c.1718T>G (p.Leu573Arg)
c.1664T>G (p.Leu555Arg)
n.125T>G
c.119+374T>G
c.221T>G (p.Leu74Arg)
3g.52403427A>GCA353099575BAP1c.1718T>C (p.Leu573Pro)
c.1664T>C (p.Leu555Pro)
n.125T>C
c.119+374T>C
c.221T>C (p.Leu74Pro)
3g.52403427A>TCA353099576BAP1c.1718T>A (p.Leu573Gln)
c.1664T>A (p.Leu555Gln)
n.125T>A
c.119+374T>A
c.221T>A (p.Leu74Gln)
 dbSNP
3g.52403427_52403428delinsAGCA1364836344BAP1c.1717_1718delinsCT (p.Leu573=)
c.1663_1664delinsCT (p.Leu555=)
n.124_125delinsCT
c.119+373_119+374delinsCT
c.220_221delinsCT (p.Leu74=)
3g.52403428_52403432delCA645529899BAP1c.1714_1718del (p.Pro572GlyfsTer?)
c.1660_1664del (p.Pro554GlyfsTer?)
n.121_125del
c.119+370_119+374del
c.217_221del (p.Pro73GlyfsTer?)
 COSMIC
3g.52403428G>ACA433885772BAP1c.1717C>T (p.Leu573=)
c.1663C>T (p.Leu555=)
n.124C>T
c.119+373C>T
c.220C>T (p.Leu74=)
 dbSNP gnomAD v4
3g.52403428G>CCA353099580BAP1c.1717C>G (p.Leu573Val)
c.1663C>G (p.Leu555Val)
n.124C>G
c.119+373C>G
c.220C>G (p.Leu74Val)
 dbSNP
3g.52403428G>TCA353099579BAP1c.1717C>A (p.Leu573Met)
c.1663C>A (p.Leu555Met)
n.124C>A
c.119+373C>A
c.220C>A (p.Leu74Met)
3g.52403431delCA351499BAP1c.1717del (p.Leu573TrpfsTer3)
c.1663del (p.Leu555TrpfsTer3)
n.124del
c.119+373del
c.220del (p.Leu74TrpfsTer3)
 ClinVar dbSNP COSMIC
3g.52403429G>ACA433885776BAP1c.1716C>T (p.Pro572=)
c.1662C>T (p.Pro554=)
n.123C>T
c.119+372C>T
c.219C>T (p.Pro73=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403429G>CCA433885774BAP1c.1716C>G (p.Pro572=)
c.1662C>G (p.Pro554=)
n.123C>G
c.119+372C>G
c.219C>G (p.Pro73=)
 dbSNP
3g.52403429G=CA1364836352BAP1c.1716C= (p.Pro572=)
c.1662C= (p.Pro554=)
n.123C=
c.119+372C=
c.219C= (p.Pro73=)
3g.52403429G>TCA433885775BAP1c.1716C>A (p.Pro572=)
c.1662C>A (p.Pro554=)
n.123C>A
c.119+372C>A
c.219C>A (p.Pro73=)
 dbSNP
3g.52403429_52403443dupCA2666009812BAP1c.1702_1716dup (p.Pro572_Leu573insGlyValLeuSerPro)
c.1648_1662dup (p.Pro554_Leu555insGlyValLeuSerPro)
n.109_123dup
c.119+358_119+372dup
c.205_219dup (p.Pro73_Leu74insGlyValLeuSerPro)
 gnomAD v4
3g.52403430G>ACA353099582BAP1c.1715C>T (p.Pro572Leu)
c.1661C>T (p.Pro554Leu)
n.122C>T
c.119+371C>T
c.218C>T (p.Pro73Leu)
 ClinVar dbSNP gnomAD v4
3g.52403430G>CCA353099592BAP1c.1715C>G (p.Pro572Arg)
c.1661C>G (p.Pro554Arg)
n.122C>G
c.119+371C>G
c.218C>G (p.Pro73Arg)
 dbSNP
3g.52403430G=CA1364836359BAP1c.1715C= (p.Pro572=)
c.1661C= (p.Pro554=)
n.122C=
c.119+371C=
c.218C= (p.Pro73=)
3g.52403430G>TCA353099596BAP1c.1715C>A (p.Pro572His)
c.1661C>A (p.Pro554His)
n.122C>A
c.119+371C>A
c.218C>A (p.Pro73His)
 ClinVar dbSNP gnomAD v4
3g.52403431G>ACA353099598BAP1c.1714C>T (p.Pro572Ser)
c.1660C>T (p.Pro554Ser)
n.121C>T
c.119+370C>T
c.217C>T (p.Pro73Ser)
 ClinVar dbSNP
3g.52403431G>CCA353099603BAP1c.1714C>G (p.Pro572Ala)
c.1660C>G (p.Pro554Ala)
n.121C>G
c.119+370C>G
c.217C>G (p.Pro73Ala)
 dbSNP
3g.52403431G=CA1364836367BAP1c.1714C= (p.Pro572=)
c.1660C= (p.Pro554=)
n.121C=
c.119+370C=
c.217C= (p.Pro73=)
3g.52403431G>TCA353099607BAP1c.1714C>A (p.Pro572Thr)
c.1660C>A (p.Pro554Thr)
n.121C>A
c.119+370C>A
c.217C>A (p.Pro73Thr)
 ClinVar dbSNP
3g.52403432A>CCA353099609BAP1c.1713T>G (p.Ser571Arg)
c.1659T>G (p.Ser553Arg)
n.120T>G
c.119+369T>G
c.216T>G (p.Ser72Arg)
3g.52403432A>GCA433885777BAP1c.1713T>C (p.Ser571=)
c.1659T>C (p.Ser553=)
n.120T>C
c.119+369T>C
c.216T>C (p.Ser72=)
3g.52403432A>TCA353099613BAP1c.1713T>A (p.Ser571Arg)
c.1659T>A (p.Ser553Arg)
n.120T>A
c.119+369T>A
c.216T>A (p.Ser72Arg)
3g.52403433C>ACA353099619BAP1c.1712G>T (p.Ser571Ile)
c.1658G>T (p.Ser553Ile)
n.119G>T
c.119+368G>T
c.215G>T (p.Ser72Ile)
3g.52403433C=CA1364836371BAP1c.1712G= (p.Ser571=)
c.1658G= (p.Ser553=)
n.119G=
c.119+368G=
c.215G= (p.Ser72=)
3g.52403433C>GCA353099623BAP1c.1712G>C (p.Ser571Thr)
c.1658G>C (p.Ser553Thr)
n.119G>C
c.119+368G>C
c.215G>C (p.Ser72Thr)
 dbSNP
3g.52403433C>TCA74740568BAP1c.1712G>A (p.Ser571Asn)
c.1658G>A (p.Ser553Asn)
n.119G>A
c.119+368G>A
c.215G>A (p.Ser72Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403434T>ACA353099644BAP1c.1711A>T (p.Ser571Cys)
c.1657A>T (p.Ser553Cys)
n.118A>T
c.119+367A>T
c.214A>T (p.Ser72Cys)
 ClinVar dbSNP
3g.52403434T>CCA353099639BAP1c.1711A>G (p.Ser571Gly)
c.1657A>G (p.Ser553Gly)
n.118A>G
c.119+367A>G
c.214A>G (p.Ser72Gly)
 dbSNP gnomAD v4
3g.52403434T>GCA353099636BAP1c.1711A>C (p.Ser571Arg)
c.1657A>C (p.Ser553Arg)
n.118A>C
c.119+367A>C
c.214A>C (p.Ser72Arg)
3g.52403435C>ACA433885780BAP1c.1710G>T (p.Leu570=)
c.1656G>T (p.Leu552=)
n.117G>T
c.119+366G>T
c.213G>T (p.Leu71=)
 dbSNP
3g.52403435C=CA1364836374BAP1c.1710G= (p.Leu570=)
c.1656G= (p.Leu552=)
n.117G=
c.119+366G=
c.213G= (p.Leu71=)
3g.52403435C>GCA433885783BAP1c.1710G>C (p.Leu570=)
c.1656G>C (p.Leu552=)
n.117G>C
c.119+366G>C
c.213G>C (p.Leu71=)
 ClinVar dbSNP
3g.52403435C>TCA433885781BAP1c.1710G>A (p.Leu570=)
c.1656G>A (p.Leu552=)
n.117G>A
c.119+366G>A
c.213G>A (p.Leu71=)
 ClinVar dbSNP
3g.52403435_52403436insGCA2580070225BAP1c.1709_1710insC (p.Ser571GlufsTer?)
c.1655_1656insC (p.Ser553GlufsTer?)
n.116_117insC
c.119+365_119+366insC
c.212_213insC (p.Ser72GlufsTer?)
 ClinVar
3g.52403436A=CA1364836376BAP1c.1709T= (p.Leu570=)
c.1655T= (p.Leu552=)
n.116T=
c.119+365T=
c.212T= (p.Leu71=)
3g.52403436A>CCA353099646BAP1c.1709T>G (p.Leu570Arg)
c.1655T>G (p.Leu552Arg)
n.116T>G
c.119+365T>G
c.212T>G (p.Leu71Arg)
3g.52403436A>GCA353099648BAP1c.1709T>C (p.Leu570Pro)
c.1655T>C (p.Leu552Pro)
n.116T>C
c.119+365T>C
c.212T>C (p.Leu71Pro)
 ClinVar dbSNP gnomAD v4
3g.52403436A>TCA353099649BAP1c.1709T>A (p.Leu570Gln)
c.1655T>A (p.Leu552Gln)
n.116T>A
c.119+365T>A
c.212T>A (p.Leu71Gln)
 dbSNP
3g.52403437G>ACA433885785BAP1c.1708C>T (p.Leu570=)
c.1654C>T (p.Leu552=)
n.115C>T
c.119+364C>T
c.211C>T (p.Leu71=)
 ClinVar dbSNP gnomAD v4
3g.52403437G>CCA353099654BAP1c.1708C>G (p.Leu570Val)
c.1654C>G (p.Leu552Val)
n.115C>G
c.119+364C>G
c.211C>G (p.Leu71Val)
 ClinVar dbSNP
3g.52403437G=CA1364836379BAP1c.1708C= (p.Leu570=)
c.1654C= (p.Leu552=)
n.115C=
c.119+364C=
c.211C= (p.Leu71=)
3g.52403437G>TCA353099657BAP1c.1708C>A (p.Leu570Met)
c.1654C>A (p.Leu552Met)
n.115C>A
c.119+364C>A
c.211C>A (p.Leu71Met)
 ClinVar dbSNP gnomAD v4
3g.52403438C>ACA433885788BAP1c.1707G>T (p.Val569=)
c.1653G>T (p.Val551=)
n.114G>T
c.119+363G>T
c.210G>T (p.Val70=)
 dbSNP
3g.52403438C=CA1364836381BAP1c.1707G= (p.Val569=)
c.1653G= (p.Val551=)
n.114G=
c.119+363G=
c.210G= (p.Val70=)
3g.52403438C>GCA433885789BAP1c.1707G>C (p.Val569=)
c.1653G>C (p.Val551=)
n.114G>C
c.119+363G>C
c.210G>C (p.Val70=)
 dbSNP
3g.52403438C>TCA2436752BAP1c.1707G>A (p.Val569=)
c.1653G>A (p.Val551=)
n.114G>A
c.119+363G>A
c.210G>A (p.Val70=)
 ClinVar dbSNP ExAC gnomAD v2
3g.52403439A=CA1364836382BAP1c.1706T= (p.Val569=)
c.1652T= (p.Val551=)
n.113T=
c.119+362T=
c.209T= (p.Val70=)
3g.52403439A>CCA353099663BAP1c.1706T>G (p.Val569Gly)
c.1652T>G (p.Val551Gly)
n.113T>G
c.119+362T>G
c.209T>G (p.Val70Gly)
 dbSNP
3g.52403439A>GCA353099666BAP1c.1706T>C (p.Val569Ala)
c.1652T>C (p.Val551Ala)
n.113T>C
c.119+362T>C
c.209T>C (p.Val70Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403439A>TCA353099668BAP1c.1706T>A (p.Val569Glu)
c.1652T>A (p.Val551Glu)
n.113T>A
c.119+362T>A
c.209T>A (p.Val70Glu)
3g.52403440C>ACA353099671BAP1c.1705G>T (p.Val569Leu)
c.1651G>T (p.Val551Leu)
n.112G>T
c.119+361G>T
c.208G>T (p.Val70Leu)
3g.52403440C>GCA353099674BAP1c.1705G>C (p.Val569Leu)
c.1651G>C (p.Val551Leu)
n.112G>C
c.119+361G>C
c.208G>C (p.Val70Leu)
 dbSNP
3g.52403440C>TCA353099689BAP1c.1705G>A (p.Val569Met)
c.1651G>A (p.Val551Met)
n.112G>A
c.119+361G>A
c.208G>A (p.Val70Met)
 ClinVar dbSNP
3g.52403441C>ACA433885793BAP1c.1704G>T (p.Gly568=)
c.1650G>T (p.Gly550=)
n.111G>T
c.119+360G>T
c.207G>T (p.Gly69=)
 dbSNP gnomAD v4
3g.52403441C=CA1364836384BAP1c.1704G= (p.Gly568=)
c.1650G= (p.Gly550=)
n.111G=
c.119+360G=
c.207G= (p.Gly69=)
3g.52403441C>GCA433885794BAP1c.1704G>C (p.Gly568=)
c.1650G>C (p.Gly550=)
n.111G>C
c.119+360G>C
c.207G>C (p.Gly69=)
 dbSNP
3g.52403441C>TCA433885795BAP1c.1704G>A (p.Gly568=)
c.1650G>A (p.Gly550=)
n.111G>A
c.119+360G>A
c.207G>A (p.Gly69=)
 ClinVar dbSNP gnomAD v4
3g.52403442C>ACA353099698BAP1c.1703G>T (p.Gly568Val)
c.1649G>T (p.Gly550Val)
n.110G>T
c.119+359G>T
c.206G>T (p.Gly69Val)
 dbSNP
3g.52403442C=CA1364836385BAP1c.1703G= (p.Gly568=)
c.1649G= (p.Gly550=)
n.110G=
c.119+359G=
c.206G= (p.Gly69=)
3g.52403442C>GCA353099696BAP1c.1703G>C (p.Gly568Ala)
c.1649G>C (p.Gly550Ala)
n.110G>C
c.119+359G>C
c.206G>C (p.Gly69Ala)
 ClinVar dbSNP
3g.52403442C>TCA353099692BAP1c.1703G>A (p.Gly568Glu)
c.1649G>A (p.Gly550Glu)
n.110G>A
c.119+359G>A
c.206G>A (p.Gly69Glu)
 dbSNP
3g.52403443C>ACA353099701BAP1c.1702G>T (p.Gly568Trp)
c.1648G>T (p.Gly550Trp)
n.109G>T
c.119+358G>T
c.205G>T (p.Gly69Trp)
 dbSNP
3g.52403443C>GCA353099707BAP1c.1702G>C (p.Gly568Arg)
c.1648G>C (p.Gly550Arg)
n.109G>C
c.119+358G>C
c.205G>C (p.Gly69Arg)
3g.52403443C>TCA353099703BAP1c.1702G>A (p.Gly568Arg)
c.1648G>A (p.Gly550Arg)
n.109G>A
c.119+358G>A
c.205G>A (p.Gly69Arg)
 dbSNP
3g.52403444A>CCA353099710BAP1c.1701T>G (p.Asp567Glu)
c.1647T>G (p.Asp549Glu)
n.108T>G
c.119+357T>G
c.204T>G (p.Asp68Glu)
 dbSNP
3g.52403444A>GCA433885802BAP1c.1701T>C (p.Asp567=)
c.1647T>C (p.Asp549=)
n.108T>C
c.119+357T>C
c.204T>C (p.Asp68=)
3g.52403444A>TCA353099714BAP1c.1701T>A (p.Asp567Glu)
c.1647T>A (p.Asp549Glu)
n.108T>A
c.119+357T>A
c.204T>A (p.Asp68Glu)
 dbSNP
3g.52403444_52403445insGACA645529900BAP1c.1701_1702insCT (p.Gly568LeufsTer4)
c.1647_1648insCT (p.Gly550LeufsTer4)
n.108_109insCT
c.119+357_119+358insCT
c.204_205insCT (p.Gly69LeufsTer4)
 COSMIC
3g.52403445delCA2666009883BAP1c.1700del (p.Asp567ValfsTer4)
c.1646del (p.Asp549ValfsTer4)
n.107del
c.119+356del
c.203del (p.Asp68ValfsTer4)
 gnomAD v4
3g.52403445T>ACA353099717BAP1c.1700A>T (p.Asp567Val)
c.1646A>T (p.Asp549Val)
n.107A>T
c.119+356A>T
c.203A>T (p.Asp68Val)
 dbSNP gnomAD v4
3g.52403445T>CCA353099722BAP1c.1700A>G (p.Asp567Gly)
c.1646A>G (p.Asp549Gly)
n.107A>G
c.119+356A>G
c.203A>G (p.Asp68Gly)
 dbSNP gnomAD v2 gnomAD v4
3g.52403445T>GCA353099725BAP1c.1700A>C (p.Asp567Ala)
c.1646A>C (p.Asp549Ala)
n.107A>C
c.119+356A>C
c.203A>C (p.Asp68Ala)
 dbSNP
3g.52403445T=CA1364836386BAP1c.1700A= (p.Asp567=)
c.1646A= (p.Asp549=)
n.107A=
c.119+356A=
c.203A= (p.Asp68=)
3g.52403447_52403449delCA2756265883BAP1c.1698_1700del (p.Glu566del)
c.1644_1646del (p.Glu548del)
n.105_107del
c.119+354_119+356del
c.201_203del (p.Glu67del)
3g.52403446C>ACA353099730BAP1c.1699G>T (p.Asp567Tyr)
c.1645G>T (p.Asp549Tyr)
n.106G>T
c.119+355G>T
c.202G>T (p.Asp68Tyr)
 dbSNP
3g.52403446C=CA1364836388BAP1c.1699G= (p.Asp567=)
c.1645G= (p.Asp549=)
n.106G=
c.119+355G=
c.202G= (p.Asp68=)
3g.52403446C>GCA353099733BAP1c.1699G>C (p.Asp567His)
c.1645G>C (p.Asp549His)
n.106G>C
c.119+355G>C
c.202G>C (p.Asp68His)
 dbSNP
3g.52403446C>TCA353099735BAP1c.1699G>A (p.Asp567Asn)
c.1645G>A (p.Asp549Asn)
n.106G>A
c.119+355G>A
c.202G>A (p.Asp68Asn)
 ClinVar dbSNP gnomAD v4
3g.52403447C>ACA353099739BAP1c.1698G>T (p.Glu566Asp)
c.1644G>T (p.Glu548Asp)
n.105G>T
c.119+354G>T
c.201G>T (p.Glu67Asp)
 dbSNP
3g.52403447C>GCA353099745BAP1c.1698G>C (p.Glu566Asp)
c.1644G>C (p.Glu548Asp)
n.105G>C
c.119+354G>C
c.201G>C (p.Glu67Asp)
3g.52403447C>TCA433885808BAP1c.1698G>A (p.Glu566=)
c.1644G>A (p.Glu548=)
n.105G>A
c.119+354G>A
c.201G>A (p.Glu67=)
 dbSNP
3g.52403448T>ACA353099746BAP1c.1697A>T (p.Glu566Val)
c.1643A>T (p.Glu548Val)
n.104A>T
c.119+353A>T
c.200A>T (p.Glu67Val)
 dbSNP
3g.52403448T>CCA353099753BAP1c.1697A>G (p.Glu566Gly)
c.1643A>G (p.Glu548Gly)
n.104A>G
c.119+353A>G
c.200A>G (p.Glu67Gly)
 dbSNP
3g.52403448T>GCA353099759BAP1c.1697A>C (p.Glu566Ala)
c.1643A>C (p.Glu548Ala)
n.104A>C
c.119+353A>C
c.200A>C (p.Glu67Ala)
3g.52403449C>ACA353099770BAP1c.1696G>T (p.Glu566Ter)
c.1642G>T (p.Glu548Ter)
n.103G>T
c.119+352G>T
c.199G>T (p.Glu67Ter)
3g.52403449C=CA1364836390BAP1c.1696G= (p.Glu566=)
c.1642G= (p.Glu548=)
n.103G=
c.119+352G=
c.199G= (p.Glu67=)
3g.52403449C>GCA353099768BAP1c.1696G>C (p.Glu566Gln)
c.1642G>C (p.Glu548Gln)
n.103G>C
c.119+352G>C
c.199G>C (p.Glu67Gln)
 dbSNP
3g.52403449C>TCA353099765BAP1c.1696G>A (p.Glu566Lys)
c.1642G>A (p.Glu548Lys)
n.103G>A
c.119+352G>A
c.199G>A (p.Glu67Lys)
 dbSNP COSMIC
3g.52403450A>CCA433885814BAP1c.1695T>G (p.Ala565=)
c.1641T>G (p.Ala547=)
n.102T>G
c.119+351T>G
c.198T>G (p.Ala66=)
3g.52403450A>GCA433885816BAP1c.1695T>C (p.Ala565=)
c.1641T>C (p.Ala547=)
n.102T>C
c.119+351T>C
c.198T>C (p.Ala66=)
 dbSNP
3g.52403450A>TCA433885817BAP1c.1695T>A (p.Ala565=)
c.1641T>A (p.Ala547=)
n.102T>A
c.119+351T>A
c.198T>A (p.Ala66=)
 dbSNP
3g.52403450dupCA658657307BAP1c.1695dup (p.Glu566Ter)
c.1641dup (p.Glu548Ter)
n.102dup
c.119+351dup
c.198dup (p.Glu67Ter)
 ClinVar dbSNP
3g.52403451G>ACA353099773BAP1c.1694C>T (p.Ala565Val)
c.1640C>T (p.Ala547Val)
n.101C>T
c.119+350C>T
c.197C>T (p.Ala66Val)
3g.52403451G>CCA353099776BAP1c.1694C>G (p.Ala565Gly)
c.1640C>G (p.Ala547Gly)
n.101C>G
c.119+350C>G
c.197C>G (p.Ala66Gly)
3g.52403451G>TCA353099782BAP1c.1694C>A (p.Ala565Asp)
c.1640C>A (p.Ala547Asp)
n.101C>A
c.119+350C>A
c.197C>A (p.Ala66Asp)
3g.52403452C>ACA353099785BAP1c.1693G>T (p.Ala565Ser)
c.1639G>T (p.Ala547Ser)
n.100G>T
c.119+349G>T
c.196G>T (p.Ala66Ser)
 dbSNP
3g.52403452C>GCA353099787BAP1c.1693G>C (p.Ala565Pro)
c.1639G>C (p.Ala547Pro)
n.100G>C
c.119+349G>C
c.196G>C (p.Ala66Pro)
 dbSNP
3g.52403452C>TCA353099795BAP1c.1693G>A (p.Ala565Thr)
c.1639G>A (p.Ala547Thr)
n.100G>A
c.119+349G>A
c.196G>A (p.Ala66Thr)
 dbSNP
3g.52403453C>ACA433885825BAP1c.1692G>T (p.Leu564=)
c.1638G>T (p.Leu546=)
n.99G>T
c.119+348G>T
c.195G>T (p.Leu65=)
 dbSNP
3g.52403453C=CA1364836394BAP1c.1692G= (p.Leu564=)
c.1638G= (p.Leu546=)
n.99G=
c.119+348G=
c.195G= (p.Leu65=)
3g.52403453C>GCA433885826BAP1c.1692G>C (p.Leu564=)
c.1638G>C (p.Leu546=)
n.99G>C
c.119+348G>C
c.195G>C (p.Leu65=)
 ClinVar dbSNP
3g.52403453C>TCA2436753BAP1c.1692G>A (p.Leu564=)
c.1638G>A (p.Leu546=)
n.99G>A
c.119+348G>A
c.195G>A (p.Leu65=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403454A>CCA353099804BAP1c.1691T>G (p.Leu564Arg)
c.1637T>G (p.Leu546Arg)
n.98T>G
c.119+347T>G
c.194T>G (p.Leu65Arg)
3g.52403454A>GCA353099807BAP1c.1691T>C (p.Leu564Pro)
c.1637T>C (p.Leu546Pro)
n.98T>C
c.119+347T>C
c.194T>C (p.Leu65Pro)
3g.52403454A>TCA353099810BAP1c.1691T>A (p.Leu564Gln)
c.1637T>A (p.Leu546Gln)
n.98T>A
c.119+347T>A
c.194T>A (p.Leu65Gln)
 dbSNP
3g.52403455G>ACA433885828BAP1c.1690C>T (p.Leu564=)
c.1636C>T (p.Leu546=)
n.97C>T
c.119+346C>T
c.193C>T (p.Leu65=)
 ClinVar dbSNP gnomAD v4
3g.52403455G>CCA353099814BAP1c.1690C>G (p.Leu564Val)
c.1636C>G (p.Leu546Val)
n.97C>G
c.119+346C>G
c.193C>G (p.Leu65Val)
 dbSNP
3g.52403455G=CA1364836397BAP1c.1690C= (p.Leu564=)
c.1636C= (p.Leu546=)
n.97C=
c.119+346C=
c.193C= (p.Leu65=)
3g.52403455G>TCA353099819BAP1c.1690C>A (p.Leu564Met)
c.1636C>A (p.Leu546Met)
n.97C>A
c.119+346C>A
c.193C>A (p.Leu65Met)
3g.52403456delCA2695197914BAP1c.1690del (p.Leu564TrpfsTer7)
c.1636del (p.Leu546TrpfsTer7)
n.97del
c.119+346del
c.193del (p.Leu65TrpfsTer7)
 ClinVar
3g.52403456G>ACA2436755BAP1c.1689C>T (p.His563=)
c.1635C>T (p.His545=)
n.96C>T
c.119+345C>T
c.192C>T (p.His64=)
 dbSNP ExAC gnomAD v2
3g.52403456G>CCA353099823BAP1c.1689C>G (p.His563Gln)
c.1635C>G (p.His545Gln)
n.96C>G
c.119+345C>G
c.192C>G (p.His64Gln)
 dbSNP
3g.52403456G=CA1364836400BAP1c.1689C= (p.His563=)
c.1635C= (p.His545=)
n.96C=
c.119+345C=
c.192C= (p.His64=)
3g.52403456G>TCA2436754BAP1c.1689C>A (p.His563Gln)
c.1635C>A (p.His545Gln)
n.96C>A
c.119+345C>A
c.192C>A (p.His64Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403457T>ACA353099834BAP1c.1688A>T (p.His563Leu)
c.1634A>T (p.His545Leu)
n.95A>T
c.119+344A>T
c.191A>T (p.His64Leu)
 dbSNP
3g.52403457T>CCA353099839BAP1c.1688A>G (p.His563Arg)
c.1634A>G (p.His545Arg)
n.95A>G
c.119+344A>G
c.191A>G (p.His64Arg)
 ClinVar dbSNP
3g.52403457T>GCA353099842BAP1c.1688A>C (p.His563Pro)
c.1634A>C (p.His545Pro)
n.95A>C
c.119+344A>C
c.191A>C (p.His64Pro)
 ClinVar dbSNP
3g.52403457T=CA1364836402BAP1c.1688A= (p.His563=)
c.1634A= (p.His545=)
n.95A=
c.119+344A=
c.191A= (p.His64=)
3g.52403458G>ACA353099844BAP1c.1687C>T (p.His563Tyr)
c.1633C>T (p.His545Tyr)
n.94C>T
c.119+343C>T
c.190C>T (p.His64Tyr)
 ClinVar dbSNP gnomAD v4
3g.52403458G>CCA353099847BAP1c.1687C>G (p.His563Asp)
c.1633C>G (p.His545Asp)
n.94C>G
c.119+343C>G
c.190C>G (p.His64Asp)
 dbSNP
3g.52403458G=CA1364836404BAP1c.1687C= (p.His563=)
c.1633C= (p.His545=)
n.94C=
c.119+343C=
c.190C= (p.His64=)
3g.52403458G>TCA353099851BAP1c.1687C>A (p.His563Asn)
c.1633C>A (p.His545Asn)
n.94C>A
c.119+343C>A
c.190C>A (p.His64Asn)
 dbSNP gnomAD v4
3g.52403459C>ACA433885835BAP1c.1686G>T (p.Leu562=)
c.1632G>T (p.Leu544=)
n.93G>T
c.119+342G>T
c.189G>T (p.Leu63=)
3g.52403459C>GCA433885836BAP1c.1686G>C (p.Leu562=)
c.1632G>C (p.Leu544=)
n.93G>C
c.119+342G>C
c.189G>C (p.Leu63=)
 dbSNP gnomAD v3 gnomAD v4
3g.52403459C>TCA433885837BAP1c.1686G>A (p.Leu562=)
c.1632G>A (p.Leu544=)
n.93G>A
c.119+342G>A
c.189G>A (p.Leu63=)
 ClinVar dbSNP
3g.52403460A>CCA353099857BAP1c.1685T>G (p.Leu562Arg)
c.1631T>G (p.Leu544Arg)
n.92T>G
c.119+341T>G
c.188T>G (p.Leu63Arg)
3g.52403460A>GCA353099858BAP1c.1685T>C (p.Leu562Pro)
c.1631T>C (p.Leu544Pro)
n.92T>C
c.119+341T>C
c.188T>C (p.Leu63Pro)
 dbSNP
3g.52403460A>TCA353099860BAP1c.1685T>A (p.Leu562Gln)
c.1631T>A (p.Leu544Gln)
n.92T>A
c.119+341T>A
c.188T>A (p.Leu63Gln)
 dbSNP
3g.52403461G>ACA433885841BAP1c.1684C>T (p.Leu562=)
c.1630C>T (p.Leu544=)
n.91C>T
c.119+340C>T
c.187C>T (p.Leu63=)
 dbSNP
3g.52403461G>CCA353099863BAP1c.1684C>G (p.Leu562Val)
c.1630C>G (p.Leu544Val)
n.91C>G
c.119+340C>G
c.187C>G (p.Leu63Val)
 ClinVar dbSNP
3g.52403461G>TCA353099866BAP1c.1684C>A (p.Leu562Met)
c.1630C>A (p.Leu544Met)
n.91C>A
c.119+340C>A
c.187C>A (p.Leu63Met)
3g.52403462C>ACA433885846BAP1c.1683G>T (p.Leu561=)
c.1629G>T (p.Leu543=)
n.90G>T
c.119+339G>T
c.186G>T (p.Leu62=)
 dbSNP
3g.52403462C>GCA433885851BAP1c.1683G>C (p.Leu561=)
c.1629G>C (p.Leu543=)
n.90G>C
c.119+339G>C
c.186G>C (p.Leu62=)
 dbSNP
3g.52403462C>TCA433885848BAP1c.1683G>A (p.Leu561=)
c.1629G>A (p.Leu543=)
n.90G>A
c.119+339G>A
c.186G>A (p.Leu62=)
 dbSNP gnomAD v4
3g.52403463A=CA1364836406BAP1c.1682T= (p.Leu561=)
c.1628T= (p.Leu543=)
n.89T=
c.119+338T=
c.185T= (p.Leu62=)
3g.52403463A>CCA353099870BAP1c.1682T>G (p.Leu561Arg)
c.1628T>G (p.Leu543Arg)
n.89T>G
c.119+338T>G
c.185T>G (p.Leu62Arg)
3g.52403463A>GCA353099873BAP1c.1682T>C (p.Leu561Pro)
c.1628T>C (p.Leu543Pro)
n.89T>C
c.119+338T>C
c.185T>C (p.Leu62Pro)
 ClinVar
3g.52403463A>TCA353099875BAP1c.1682T>A (p.Leu561Gln)
c.1628T>A (p.Leu543Gln)
n.89T>A
c.119+338T>A
c.185T>A (p.Leu62Gln)
 ClinVar dbSNP
3g.52403464G>ACA433885852BAP1c.1681C>T (p.Leu561=)
c.1627C>T (p.Leu543=)
n.88C>T
c.119+337C>T
c.184C>T (p.Leu62=)
 ClinVar dbSNP
3g.52403464G>CCA353099879BAP1c.1681C>G (p.Leu561Val)
c.1627C>G (p.Leu543Val)
n.88C>G
c.119+337C>G
c.184C>G (p.Leu62Val)
 ClinVar dbSNP gnomAD v4
3g.52403464G=CA1364836410BAP1c.1681C= (p.Leu561=)
c.1627C= (p.Leu543=)
n.88C=
c.119+337C=
c.184C= (p.Leu62=)
3g.52403464G>TCA353099881BAP1c.1681C>A (p.Leu561Met)
c.1627C>A (p.Leu543Met)
n.88C>A
c.119+337C>A
c.184C>A (p.Leu62Met)
 dbSNP
3g.52403465G>ACA433885853BAP1c.1680C>T (p.Gly560=)
c.1626C>T (p.Gly542=)
n.87C>T
c.119+336C>T
c.183C>T (p.Gly61=)
 ClinVar dbSNP
3g.52403465G>CCA433885855BAP1c.1680C>G (p.Gly560=)
c.1626C>G (p.Gly542=)
n.87C>G
c.119+336C>G
c.183C>G (p.Gly61=)
 dbSNP
3g.52403465G>TCA433885859BAP1c.1680C>A (p.Gly560=)
c.1626C>A (p.Gly542=)
n.87C>A
c.119+336C>A
c.183C>A (p.Gly61=)
3g.52403466C>ACA353099885BAP1c.1679G>T (p.Gly560Val)
c.1625G>T (p.Gly542Val)
n.86G>T
c.119+335G>T
c.182G>T (p.Gly61Val)
 dbSNP
3g.52403466C=CA1364836412BAP1c.1679G= (p.Gly560=)
c.1625G= (p.Gly542=)
n.86G=
c.119+335G=
c.182G= (p.Gly61=)
3g.52403466C>GCA353099890BAP1c.1679G>C (p.Gly560Ala)
c.1625G>C (p.Gly542Ala)
n.86G>C
c.119+335G>C
c.182G>C (p.Gly61Ala)
 dbSNP
3g.52403466C>TCA353099892BAP1c.1679G>A (p.Gly560Asp)
c.1625G>A (p.Gly542Asp)
n.86G>A
c.119+335G>A
c.182G>A (p.Gly61Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403467C>ACA353099896BAP1c.1678G>T (p.Gly560Cys)
c.1624G>T (p.Gly542Cys)
n.85G>T
c.119+334G>T
c.181G>T (p.Gly61Cys)
 dbSNP
3g.52403467C=CA1364836414BAP1c.1678G= (p.Gly560=)
c.1624G= (p.Gly542=)
n.85G=
c.119+334G=
c.181G= (p.Gly61=)
3g.52403467C>GCA353099900BAP1c.1678G>C (p.Gly560Arg)
c.1624G>C (p.Gly542Arg)
n.85G>C
c.119+334G>C
c.181G>C (p.Gly61Arg)
 ClinVar dbSNP
3g.52403467C>TCA2436756BAP1c.1678G>A (p.Gly560Ser)
c.1624G>A (p.Gly542Ser)
n.85G>A
c.119+334G>A
c.181G>A (p.Gly61Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403468T>ACA433885867BAP1c.1677A>T (p.Thr559=)
c.1623A>T (p.Thr541=)
n.84A>T
c.119+333A>T
c.180A>T (p.Thr60=)
 dbSNP
3g.52403468T>CCA433885870BAP1c.1677A>G (p.Thr559=)
c.1623A>G (p.Thr541=)
n.84A>G
c.119+333A>G
c.180A>G (p.Thr60=)
 dbSNP gnomAD v4
3g.52403468T>GCA433885869BAP1c.1677A>C (p.Thr559=)
c.1623A>C (p.Thr541=)
n.84A>C
c.119+333A>C
c.180A>C (p.Thr60=)
3g.52403469G>ACA353099922BAP1c.1676C>T (p.Thr559Ile)
c.1622C>T (p.Thr541Ile)
n.83C>T
c.119+332C>T
c.179C>T (p.Thr60Ile)
 ClinVar dbSNP gnomAD v2
3g.52403469G>CCA353099924BAP1c.1676C>G (p.Thr559Arg)
c.1622C>G (p.Thr541Arg)
n.83C>G
c.119+332C>G
c.179C>G (p.Thr60Arg)
 ClinVar dbSNP
3g.52403469G=CA1364836419BAP1c.1676C= (p.Thr559=)
c.1622C= (p.Thr541=)
n.83C=
c.119+332C=
c.179C= (p.Thr60=)
3g.52403469G>TCA353099933BAP1c.1676C>A (p.Thr559Lys)
c.1622C>A (p.Thr541Lys)
n.83C>A
c.119+332C>A
c.179C>A (p.Thr60Lys)
 dbSNP gnomAD v2 gnomAD v4
3g.52403470T>ACA353099935BAP1c.1675A>T (p.Thr559Ser)
c.1621A>T (p.Thr541Ser)
n.82A>T
c.119+331A>T
c.178A>T (p.Thr60Ser)
 dbSNP
3g.52403470T>CCA353099941BAP1c.1675A>G (p.Thr559Ala)
c.1621A>G (p.Thr541Ala)
n.82A>G
c.119+331A>G
c.178A>G (p.Thr60Ala)
 dbSNP
3g.52403470T>GCA353099944BAP1c.1675A>C (p.Thr559Pro)
c.1621A>C (p.Thr541Pro)
n.82A>C
c.119+331A>C
c.178A>C (p.Thr60Pro)
 dbSNP
3g.52403472_52403474delCA2580070226BAP1c.1673_1675del (p.Ser558del)
c.1619_1621del (p.Ser540del)
n.80_82del
c.119+329_119+331del
c.176_178del (p.Ser59del)
 ClinVar
3g.52403471G>ACA433885873BAP1c.1674C>T (p.Ser558=)
c.1620C>T (p.Ser540=)
n.81C>T
c.119+330C>T
c.177C>T (p.Ser59=)
 ClinVar dbSNP
3g.52403471G>CCA353099946BAP1c.1674C>G (p.Ser558Arg)
c.1620C>G (p.Ser540Arg)
n.81C>G
c.119+330C>G
c.177C>G (p.Ser59Arg)
 dbSNP
3g.52403471G>TCA353099948BAP1c.1674C>A (p.Ser558Arg)
c.1620C>A (p.Ser540Arg)
n.81C>A
c.119+330C>A
c.177C>A (p.Ser59Arg)
3g.52403472C>ACA2436757BAP1c.1673G>T (p.Ser558Ile)
c.1619G>T (p.Ser540Ile)
n.80G>T
c.119+329G>T
c.176G>T (p.Ser59Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403472C=CA1364836421BAP1c.1673G= (p.Ser558=)
c.1619G= (p.Ser540=)
n.80G=
c.119+329G=
c.176G= (p.Ser59=)
3g.52403472C>GCA353099952BAP1c.1673G>C (p.Ser558Thr)
c.1619G>C (p.Ser540Thr)
n.80G>C
c.119+329G>C
c.176G>C (p.Ser59Thr)
 dbSNP
3g.52403472C>TCA353099951BAP1c.1673G>A (p.Ser558Asn)
c.1619G>A (p.Ser540Asn)
n.80G>A
c.119+329G>A
c.176G>A (p.Ser59Asn)
 ClinVar dbSNP
3g.52403473T>ACA353099957BAP1c.1672A>T (p.Ser558Cys)
c.1618A>T (p.Ser540Cys)
n.79A>T
c.119+328A>T
c.175A>T (p.Ser59Cys)
 dbSNP
3g.52403473T>CCA353099958BAP1c.1672A>G (p.Ser558Gly)
c.1618A>G (p.Ser540Gly)
n.79A>G
c.119+328A>G
c.175A>G (p.Ser59Gly)
 ClinVar dbSNP
3g.52403473T>GCA353099963BAP1c.1672A>C (p.Ser558Arg)
c.1618A>C (p.Ser540Arg)
n.79A>C
c.119+328A>C
c.175A>C (p.Ser59Arg)
 dbSNP
3g.52403474G>ACA74740619BAP1c.1671C>T (p.Ile557=)
c.1617C>T (p.Ile539=)
n.78C>T
c.119+327C>T
c.174C>T (p.Ile58=)
 ClinVar dbSNP gnomAD v4
3g.52403474G>CCA353099966BAP1c.1671C>G (p.Ile557Met)
c.1617C>G (p.Ile539Met)
n.78C>G
c.119+327C>G
c.174C>G (p.Ile58Met)
 dbSNP
3g.52403474G=CA1364836431BAP1c.1671C= (p.Ile557=)
c.1617C= (p.Ile539=)
n.78C=
c.119+327C=
c.174C= (p.Ile58=)
3g.52403474G>TCA433885881BAP1c.1671C>A (p.Ile557=)
c.1617C>A (p.Ile539=)
n.78C>A
c.119+327C>A
c.174C>A (p.Ile58=)
 ClinVar dbSNP
3g.52403475A>CCA353099982BAP1c.1670T>G (p.Ile557Ser)
c.1616T>G (p.Ile539Ser)
n.77T>G
c.119+326T>G
c.173T>G (p.Ile58Ser)
 dbSNP
3g.52403475A>GCA353099985BAP1c.1670T>C (p.Ile557Thr)
c.1616T>C (p.Ile539Thr)
n.77T>C
c.119+326T>C
c.173T>C (p.Ile58Thr)
 dbSNP
3g.52403475A>TCA353099990BAP1c.1670T>A (p.Ile557Asn)
c.1616T>A (p.Ile539Asn)
n.77T>A
c.119+326T>A
c.173T>A (p.Ile58Asn)
 dbSNP
3g.52403476T>ACA353099994BAP1c.1669A>T (p.Ile557Phe)
c.1615A>T (p.Ile539Phe)
n.76A>T
c.119+325A>T
c.172A>T (p.Ile58Phe)
 dbSNP gnomAD v4
3g.52403476T>CCA2436758BAP1c.1669A>G (p.Ile557Val)
c.1615A>G (p.Ile539Val)
n.76A>G
c.119+325A>G
c.172A>G (p.Ile58Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403476T>GCA353100002BAP1c.1669A>C (p.Ile557Leu)
c.1615A>C (p.Ile539Leu)
n.76A>C
c.119+325A>C
c.172A>C (p.Ile58Leu)
 dbSNP
3g.52403476T=CA1364836434BAP1c.1669A= (p.Ile557=)
c.1615A= (p.Ile539=)
n.76A=
c.119+325A=
c.172A= (p.Ile58=)
3g.52403476_52403479delCA645529901BAP1c.1666_1669del (p.Val556SerfsTer14)
c.1612_1615del (p.Val538SerfsTer14)
n.73_76del
c.119+322_119+325del
c.169_172del (p.Val57SerfsTer14)
 COSMIC
3g.52403477G>ACA433885887BAP1c.1668C>T (p.Val556=)
c.1614C>T (p.Val538=)
n.75C>T
c.119+324C>T
c.171C>T (p.Val57=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403477G>CCA433885885BAP1c.1668C>G (p.Val556=)
c.1614C>G (p.Val538=)
n.75C>G
c.119+324C>G
c.171C>G (p.Val57=)
 dbSNP
3g.52403477G=CA1364836437BAP1c.1668C= (p.Val556=)
c.1614C= (p.Val538=)
n.75C=
c.119+324C=
c.171C= (p.Val57=)
3g.52403477G>TCA433885886BAP1c.1668C>A (p.Val556=)
c.1614C>A (p.Val538=)
n.75C>A
c.119+324C>A
c.171C>A (p.Val57=)
3g.52403478A>CCA353100017BAP1c.1667T>G (p.Val556Gly)
c.1613T>G (p.Val538Gly)
n.74T>G
c.119+323T>G
c.170T>G (p.Val57Gly)
 dbSNP
3g.52403478A>GCA353100015BAP1c.1667T>C (p.Val556Ala)
c.1613T>C (p.Val538Ala)
n.74T>C
c.119+323T>C
c.170T>C (p.Val57Ala)
 dbSNP
3g.52403478A>TCA353100008BAP1c.1667T>A (p.Val556Asp)
c.1613T>A (p.Val538Asp)
n.74T>A
c.119+323T>A
c.170T>A (p.Val57Asp)
 dbSNP
3g.52403479C>ACA353100020BAP1c.1666G>T (p.Val556Phe)
c.1612G>T (p.Val538Phe)
n.73G>T
c.119+322G>T
c.169G>T (p.Val57Phe)
3g.52403479C>GCA353100024BAP1c.1666G>C (p.Val556Leu)
c.1612G>C (p.Val538Leu)
n.73G>C
c.119+322G>C
c.169G>C (p.Val57Leu)
 dbSNP
3g.52403479C>TCA353100031BAP1c.1666G>A (p.Val556Ile)
c.1612G>A (p.Val538Ile)
n.73G>A
c.119+322G>A
c.169G>A (p.Val57Ile)
 ClinVar dbSNP
3g.52403480A>CCA433885890BAP1c.1665T>G (p.Pro555=)
c.1611T>G (p.Pro537=)
n.72T>G
c.119+321T>G
c.168T>G (p.Pro56=)
3g.52403480A>GCA433885892BAP1c.1665T>C (p.Pro555=)
c.1611T>C (p.Pro537=)
n.72T>C
c.119+321T>C
c.168T>C (p.Pro56=)
 ClinVar dbSNP
3g.52403480A>TCA433885893BAP1c.1665T>A (p.Pro555=)
c.1611T>A (p.Pro537=)
n.72T>A
c.119+321T>A
c.168T>A (p.Pro56=)
3g.52403481G>ACA353100034BAP1c.1664C>T (p.Pro555Leu)
c.1610C>T (p.Pro537Leu)
n.71C>T
c.119+320C>T
c.167C>T (p.Pro56Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403481G>CCA353100044BAP1c.1664C>G (p.Pro555Arg)
c.1610C>G (p.Pro537Arg)
n.71C>G
c.119+320C>G
c.167C>G (p.Pro56Arg)
 dbSNP
3g.52403481G=CA1364836440BAP1c.1664C= (p.Pro555=)
c.1610C= (p.Pro537=)
n.71C=
c.119+320C=
c.167C= (p.Pro56=)
3g.52403481G>TCA353100046BAP1c.1664C>A (p.Pro555His)
c.1610C>A (p.Pro537His)
n.71C>A
c.119+320C>A
c.167C>A (p.Pro56His)
 dbSNP
3g.52403482G>ACA353100052BAP1c.1663C>T (p.Pro555Ser)
c.1609C>T (p.Pro537Ser)
n.70C>T
c.119+319C>T
c.166C>T (p.Pro56Ser)
 dbSNP gnomAD v4
3g.52403482G>CCA353100054BAP1c.1663C>G (p.Pro555Ala)
c.1609C>G (p.Pro537Ala)
n.70C>G
c.119+319C>G
c.166C>G (p.Pro56Ala)
 dbSNP
3g.52403482G=CA1364836443BAP1c.1663C= (p.Pro555=)
c.1609C= (p.Pro537=)
n.70C=
c.119+319C=
c.166C= (p.Pro56=)
3g.52403482G>TCA2436759BAP1c.1663C>A (p.Pro555Thr)
c.1609C>A (p.Pro537Thr)
n.70C>A
c.119+319C>A
c.166C>A (p.Pro56Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403483A>CCA433885901BAP1c.1662T>G (p.Gly554=)
c.1608T>G (p.Gly536=)
n.69T>G
c.119+318T>G
c.165T>G (p.Gly55=)
3g.52403483A>GCA433885898BAP1c.1662T>C (p.Gly554=)
c.1608T>C (p.Gly536=)
n.69T>C
c.119+318T>C
c.165T>C (p.Gly55=)
3g.52403483A>TCA433885899BAP1c.1662T>A (p.Gly554=)
c.1608T>A (p.Gly536=)
n.69T>A
c.119+318T>A
c.165T>A (p.Gly55=)
3g.52403484C>ACA353100055BAP1c.1661G>T (p.Gly554Val)
c.1607G>T (p.Gly536Val)
n.68G>T
c.119+317G>T
c.164G>T (p.Gly55Val)
 ClinVar dbSNP
3g.52403484C=CA1364836447BAP1c.1661G= (p.Gly554=)
c.1607G= (p.Gly536=)
n.68G=
c.119+317G=
c.164G= (p.Gly55=)
3g.52403484C>GCA353100056BAP1c.1661G>C (p.Gly554Ala)
c.1607G>C (p.Gly536Ala)
n.68G>C
c.119+317G>C
c.164G>C (p.Gly55Ala)
 ClinVar dbSNP
3g.52403484C>TCA353100059BAP1c.1661G>A (p.Gly554Asp)
c.1607G>A (p.Gly536Asp)
n.68G>A
c.119+317G>A
c.164G>A (p.Gly55Asp)
 dbSNP
3g.52403486delCA645529902BAP1c.1661del (p.Gly554ValfsTer17)
c.1607del (p.Gly536ValfsTer17)
n.68del
c.119+317del
c.164del (p.Gly55ValfsTer17)
 ClinVar dbSNP COSMIC
3g.52403485C>ACA353100065BAP1c.1660G>T (p.Gly554Cys)
c.1606G>T (p.Gly536Cys)
n.67G>T
c.119+316G>T
c.163G>T (p.Gly55Cys)
 dbSNP
3g.52403485C=CA1364836451BAP1c.1660G= (p.Gly554=)
c.1606G= (p.Gly536=)
n.67G=
c.119+316G=
c.163G= (p.Gly55=)
3g.52403485C>GCA353100064BAP1c.1660G>C (p.Gly554Arg)
c.1606G>C (p.Gly536Arg)
n.67G>C
c.119+316G>C
c.163G>C (p.Gly55Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403485C>TCA353100061BAP1c.1660G>A (p.Gly554Ser)
c.1606G>A (p.Gly536Ser)
n.67G>A
c.119+316G>A
c.163G>A (p.Gly55Ser)
 ClinVar dbSNP
3g.52403486C>ACA433885904BAP1c.1659G>T (p.Leu553=)
c.1605G>T (p.Leu535=)
n.66G>T
c.119+315G>T
c.162G>T (p.Leu54=)
 ClinVar dbSNP
3g.52403486C=CA1364836454BAP1c.1659G= (p.Leu553=)
c.1605G= (p.Leu535=)
n.66G=
c.119+315G=
c.162G= (p.Leu54=)
3g.52403486C>GCA433885905BAP1c.1659G>C (p.Leu553=)
c.1605G>C (p.Leu535=)
n.66G>C
c.119+315G>C
c.162G>C (p.Leu54=)
 dbSNP gnomAD v2 gnomAD v4
3g.52403486C>TCA433885906BAP1c.1659G>A (p.Leu553=)
c.1605G>A (p.Leu535=)
n.66G>A
c.119+315G>A
c.162G>A (p.Leu54=)
 ClinVar
3g.52403487A>CCA353100066BAP1c.1658T>G (p.Leu553Arg)
c.1604T>G (p.Leu535Arg)
n.65T>G
c.119+314T>G
c.161T>G (p.Leu54Arg)
3g.52403487A>GCA353100068BAP1c.1658T>C (p.Leu553Pro)
c.1604T>C (p.Leu535Pro)
n.65T>C
c.119+314T>C
c.161T>C (p.Leu54Pro)
 dbSNP
3g.52403487A>TCA353100069BAP1c.1658T>A (p.Leu553Gln)
c.1604T>A (p.Leu535Gln)
n.65T>A
c.119+314T>A
c.161T>A (p.Leu54Gln)
3g.52403488G>ACA433885909BAP1c.1657C>T (p.Leu553=)
c.1603C>T (p.Leu535=)
n.64C>T
c.119+313C>T
c.160C>T (p.Leu54=)
 dbSNP
3g.52403488G>CCA353100071BAP1c.1657C>G (p.Leu553Val)
c.1603C>G (p.Leu535Val)
n.64C>G
c.119+313C>G
c.160C>G (p.Leu54Val)
 dbSNP
3g.52403488G=CA1364836459BAP1c.1657C= (p.Leu553=)
c.1603C= (p.Leu535=)
n.64C=
c.119+313C=
c.160C= (p.Leu54=)
3g.52403488G>TCA2436760BAP1c.1657C>A (p.Leu553Met)
c.1603C>A (p.Leu535Met)
n.64C>A
c.119+313C>A
c.160C>A (p.Leu54Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403489A=CA1364836462BAP1c.1656T= (p.Asp552=)
c.1602T= (p.Asp534=)
n.63T=
c.119+312T=
c.159T= (p.Asp53=)
3g.52403489A>CCA353100075BAP1c.1656T>G (p.Asp552Glu)
c.1602T>G (p.Asp534Glu)
n.63T>G
c.119+312T>G
c.159T>G (p.Asp53Glu)
 dbSNP
3g.52403489A>GCA2436761BAP1c.1656T>C (p.Asp552=)
c.1602T>C (p.Asp534=)
n.63T>C
c.119+312T>C
c.159T>C (p.Asp53=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403489A>TCA353100077BAP1c.1656T>A (p.Asp552Glu)
c.1602T>A (p.Asp534Glu)
n.63T>A
c.119+312T>A
c.159T>A (p.Asp53Glu)
 ClinVar dbSNP
3g.52403490T>ACA353100079BAP1c.1655A>T (p.Asp552Val)
c.1601A>T (p.Asp534Val)
n.62A>T
c.119+311A>T
c.158A>T (p.Asp53Val)
 dbSNP
3g.52403490T>CCA353100080BAP1c.1655A>G (p.Asp552Gly)
c.1601A>G (p.Asp534Gly)
n.62A>G
c.119+311A>G
c.158A>G (p.Asp53Gly)
3g.52403490T>GCA353100083BAP1c.1655A>C (p.Asp552Ala)
c.1601A>C (p.Asp534Ala)
n.62A>C
c.119+311A>C
c.158A>C (p.Asp53Ala)
 dbSNP
3g.52403490_52403491delinsTCCA1364836464BAP1c.1654_1655delinsGA (p.Asp552=)
c.1600_1601delinsGA (p.Asp534=)
n.61_62delinsGA
c.119+310_119+311delinsGA
c.157_158delinsGA (p.Asp53=)
3g.52403491delCA143986BAP1c.1654del (p.Asp552IlefsTer19)
c.1600del (p.Asp534IlefsTer19)
n.61del
c.119+310del
c.157del (p.Asp53IlefsTer19)
 ClinVar dbSNP
3g.52403491C>ACA353100086BAP1c.1654G>T (p.Asp552Tyr)
c.1600G>T (p.Asp534Tyr)
n.61G>T
c.119+310G>T
c.157G>T (p.Asp53Tyr)
 dbSNP
3g.52403491C>GCA353100085BAP1c.1654G>C (p.Asp552His)
c.1600G>C (p.Asp534His)
n.61G>C
c.119+310G>C
c.157G>C (p.Asp53His)
 dbSNP
3g.52403491C>TCA353100084BAP1c.1654G>A (p.Asp552Asn)
c.1600G>A (p.Asp534Asn)
n.61G>A
c.119+310G>A
c.157G>A (p.Asp53Asn)
 ClinVar dbSNP
3g.52403492A>CCA433885916BAP1c.1653T>G (p.Arg551=)
c.1599T>G (p.Arg533=)
n.60T>G
c.119+309T>G
c.156T>G (p.Arg52=)
 dbSNP
3g.52403492A>GCA433885918BAP1c.1653T>C (p.Arg551=)
c.1599T>C (p.Arg533=)
n.60T>C
c.119+309T>C
c.156T>C (p.Arg52=)
 ClinVar dbSNP
3g.52403492A>TCA433885914BAP1c.1653T>A (p.Arg551=)
c.1599T>A (p.Arg533=)
n.60T>A
c.119+309T>A
c.156T>A (p.Arg52=)
 dbSNP
3g.52403493C>ACA353100087BAP1c.1652G>T (p.Arg551Leu)
c.1598G>T (p.Arg533Leu)
n.59G>T
c.119+308G>T
c.155G>T (p.Arg52Leu)
 dbSNP gnomAD v4
3g.52403493C=CA1364836471BAP1c.1652G= (p.Arg551=)
c.1598G= (p.Arg533=)
n.59G=
c.119+308G=
c.155G= (p.Arg52=)
3g.52403493C>GCA353100088BAP1c.1652G>C (p.Arg551Pro)
c.1598G>C (p.Arg533Pro)
n.59G>C
c.119+308G>C
c.155G>C (p.Arg52Pro)
 dbSNP
3g.52403493C>TCA2436762BAP1c.1652G>A (p.Arg551His)
c.1598G>A (p.Arg533His)
n.59G>A
c.119+308G>A
c.155G>A (p.Arg52His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.52403493delinsGATCA2697556700BAP1c.1652delinsATC (p.Arg551HisfsTer21)
c.1598delinsATC (p.Arg533HisfsTer21)
n.59delinsATC
c.119+308delinsATC
c.155delinsATC (p.Arg52HisfsTer21)
 ClinVar
3g.52403494G>ACA2436763BAP1c.1651C>T (p.Arg551Cys)
c.1597C>T (p.Arg533Cys)
n.58C>T
c.119+307C>T
c.154C>T (p.Arg52Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403494G>CCA74740641BAP1c.1651C>G (p.Arg551Gly)
c.1597C>G (p.Arg533Gly)
n.58C>G
c.119+307C>G
c.154C>G (p.Arg52Gly)
 ClinVar dbSNP gnomAD v4
3g.52403494G=CA1364836478BAP1c.1651C= (p.Arg551=)
c.1597C= (p.Arg533=)
n.58C=
c.119+307C=
c.154C= (p.Arg52=)
3g.52403494G>TCA353100089BAP1c.1651C>A (p.Arg551Ser)
c.1597C>A (p.Arg533Ser)
n.58C>A
c.119+307C>A
c.154C>A (p.Arg52Ser)
 gnomAD v4
3g.52403495G>ACA433885929BAP1c.1650C>T (p.Val550=)
c.1596C>T (p.Val532=)
n.57C>T
c.119+306C>T
c.153C>T (p.Val51=)
 dbSNP
3g.52403495G>CCA433885926BAP1c.1650C>G (p.Val550=)
c.1596C>G (p.Val532=)
n.57C>G
c.119+306C>G
c.153C>G (p.Val51=)
 dbSNP
3g.52403495G>TCA433885928BAP1c.1650C>A (p.Val550=)
c.1596C>A (p.Val532=)
n.57C>A
c.119+306C>A
c.153C>A (p.Val51=)
 ClinVar dbSNP
3g.52403496delCA2580070227BAP1c.1649del (p.Val550AlafsTer21)
c.1595del (p.Val532AlafsTer21)
n.56del
c.119+305del
c.152del (p.Val51AlafsTer21)
 ClinVar
3g.52403496A=CA1364836488BAP1c.1649T= (p.Val550=)
c.1595T= (p.Val532=)
n.56T=
c.119+305T=
c.152T= (p.Val51=)
3g.52403496A>CCA353100091BAP1c.1649T>G (p.Val550Gly)
c.1595T>G (p.Val532Gly)
n.56T>G
c.119+305T>G
c.152T>G (p.Val51Gly)
 ClinVar dbSNP
3g.52403496A>GCA353100092BAP1c.1649T>C (p.Val550Ala)
c.1595T>C (p.Val532Ala)
n.56T>C
c.119+305T>C
c.152T>C (p.Val51Ala)
 dbSNP
3g.52403496A>TCA353100093BAP1c.1649T>A (p.Val550Asp)
c.1595T>A (p.Val532Asp)
n.56T>A
c.119+305T>A
c.152T>A (p.Val51Asp)
 dbSNP
3g.52403497C>ACA353100094BAP1c.1648G>T (p.Val550Phe)
c.1594G>T (p.Val532Phe)
n.55G>T
c.119+304G>T
c.151G>T (p.Val51Phe)
3g.52403497C>GCA353100095BAP1c.1648G>C (p.Val550Leu)
c.1594G>C (p.Val532Leu)
n.55G>C
c.119+304G>C
c.151G>C (p.Val51Leu)
 dbSNP
3g.52403497C>TCA353100096BAP1c.1648G>A (p.Val550Ile)
c.1594G>A (p.Val532Ile)
n.55G>A
c.119+304G>A
c.151G>A (p.Val51Ile)
 ClinVar dbSNP gnomAD v4
3g.52403498delCA2586972739BAP1c.1647del (p.Val550SerfsTer21)
c.1593del (p.Val532SerfsTer21)
n.54del
c.119+303del
c.150del (p.Val51SerfsTer21)
3g.52403498A>CCA433885937BAP1c.1647T>G (p.Ala549=)
c.1593T>G (p.Ala531=)
n.54T>G
c.119+303T>G
c.150T>G (p.Ala50=)
3g.52403498A>GCA433885939BAP1c.1647T>C (p.Ala549=)
c.1593T>C (p.Ala531=)
n.54T>C
c.119+303T>C
c.150T>C (p.Ala50=)
3g.52403498A>TCA433885938BAP1c.1647T>A (p.Ala549=)
c.1593T>A (p.Ala531=)
n.54T>A
c.119+303T>A
c.150T>A (p.Ala50=)
 ClinVar dbSNP
3g.52403499G>ACA353100101BAP1c.1646C>T (p.Ala549Val)
c.1592C>T (p.Ala531Val)
n.53C>T
c.119+302C>T
c.149C>T (p.Ala50Val)
 ClinVar dbSNP
3g.52403499G>CCA353100100BAP1c.1646C>G (p.Ala549Gly)
c.1592C>G (p.Ala531Gly)
n.53C>G
c.119+302C>G
c.149C>G (p.Ala50Gly)
 dbSNP
3g.52403499G=CA1364836494BAP1c.1646C= (p.Ala549=)
c.1592C= (p.Ala531=)
n.53C=
c.119+302C=
c.149C= (p.Ala50=)
3g.52403499G>TCA353100098BAP1c.1646C>A (p.Ala549Asp)
c.1592C>A (p.Ala531Asp)
n.53C>A
c.119+302C>A
c.149C>A (p.Ala50Asp)
3g.52403500C>ACA353100102BAP1c.1645G>T (p.Ala549Ser)
c.1591G>T (p.Ala531Ser)
n.52G>T
c.119+301G>T
c.148G>T (p.Ala50Ser)
3g.52403500C>GCA353100104BAP1c.1645G>C (p.Ala549Pro)
c.1591G>C (p.Ala531Pro)
n.52G>C
c.119+301G>C
c.148G>C (p.Ala50Pro)
 dbSNP
3g.52403500C>TCA353100103BAP1c.1645G>A (p.Ala549Thr)
c.1591G>A (p.Ala531Thr)
n.52G>A
c.119+301G>A
c.148G>A (p.Ala50Thr)
 ClinVar dbSNP gnomAD v4
3g.52403501A>CCA433885943BAP1c.1644T>G (p.Arg548=)
c.1590T>G (p.Arg530=)
n.51T>G
c.119+300T>G
c.147T>G (p.Arg49=)
 dbSNP
3g.52403501A>GCA433885944BAP1c.1644T>C (p.Arg548=)
c.1590T>C (p.Arg530=)
n.51T>C
c.119+300T>C
c.147T>C (p.Arg49=)
 ClinVar dbSNP
3g.52403501A>TCA433885945BAP1c.1644T>A (p.Arg548=)
c.1590T>A (p.Arg530=)
n.51T>A
c.119+300T>A
c.147T>A (p.Arg49=)
 ClinVar dbSNP
3g.52403502C>ACA353100106BAP1c.1643G>T (p.Arg548Leu)
c.1589G>T (p.Arg530Leu)
n.50G>T
c.119+299G>T
c.146G>T (p.Arg49Leu)
 ClinVar dbSNP gnomAD v4
3g.52403502C=CA1364836501BAP1c.1643G= (p.Arg548=)
c.1589G= (p.Arg530=)
n.50G=
c.119+299G=
c.146G= (p.Arg49=)
3g.52403502C>GCA353100108BAP1c.1643G>C (p.Arg548Pro)
c.1589G>C (p.Arg530Pro)
n.50G>C
c.119+299G>C
c.146G>C (p.Arg49Pro)
 dbSNP
3g.52403502C>TCA2436764BAP1c.1643G>A (p.Arg548His)
c.1589G>A (p.Arg530His)
n.50G>A
c.119+299G>A
c.146G>A (p.Arg49His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403503G>ACA2436765BAP1c.1642C>T (p.Arg548Cys)
c.1588C>T (p.Arg530Cys)
n.49C>T
c.119+298C>T
c.145C>T (p.Arg49Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.52403503G>CCA353100113BAP1c.1642C>G (p.Arg548Gly)
c.1588C>G (p.Arg530Gly)
n.49C>G
c.119+298C>G
c.145C>G (p.Arg49Gly)
 ClinVar dbSNP gnomAD v4
3g.52403503G=CA1364836508BAP1c.1642C= (p.Arg548=)
c.1588C= (p.Arg530=)
n.49C=
c.119+298C=
c.145C= (p.Arg49=)
3g.52403503G>TCA353100111BAP1c.1642C>A (p.Arg548Ser)
c.1588C>A (p.Arg530Ser)
n.49C>A
c.119+298C>A
c.145C>A (p.Arg49Ser)
 dbSNP
3g.52403504G>ACA433885948BAP1c.1641C>T (p.Asn547=)
c.1587C>T (p.Asn529=)
n.48C>T
c.119+297C>T
c.144C>T (p.Asn48=)
 ClinVar dbSNP
3g.52403504G>CCA353100114BAP1c.1641C>G (p.Asn547Lys)
c.1587C>G (p.Asn529Lys)
n.48C>G
c.119+297C>G
c.144C>G (p.Asn48Lys)
 dbSNP
3g.52403504G=CA1364836513BAP1c.1641C= (p.Asn547=)
c.1587C= (p.Asn529=)
n.48C=
c.119+297C=
c.144C= (p.Asn48=)
3g.52403504G>TCA353100116BAP1c.1641C>A (p.Asn547Lys)
c.1587C>A (p.Asn529Lys)
n.48C>A
c.119+297C>A
c.144C>A (p.Asn48Lys)

Number of alleles fetched