Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.52403630_52403631delCA2580070229BAP1c.1515_1516del (p.Pro506ThrfsTer?)
c.1461_1462del (p.Pro488ThrfsTer?)
c.119+171_119+172del
c.18_19del (p.Pro7ThrfsTer?)
 ClinVar
3g.52403630_52403632delinsCGACA1364836733BAP1c.1513_1515delinsTCG (p.Ser505=)
c.1459_1461delinsTCG (p.Ser487=)
c.119+169_119+171delinsTCG
c.16_18delinsTCG (p.Ser6=)
3g.52403631G>ACA353100880BAP1c.1514C>T (p.Ser505Leu)
c.1460C>T (p.Ser487Leu)
c.119+170C>T
c.17C>T (p.Ser6Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403631G>CCA353100884BAP1c.1514C>G (p.Ser505Trp)
c.1460C>G (p.Ser487Trp)
c.119+170C>G
c.17C>G (p.Ser6Trp)
3g.52403631G=CA1364836737BAP1c.1514C= (p.Ser505=)
c.1460C= (p.Ser487=)
c.119+170C=
c.17C= (p.Ser6=)
3g.52403631G>TCA353100881BAP1c.1514C>A (p.Ser505Ter)
c.1460C>A (p.Ser487Ter)
c.119+170C>A
c.17C>A (p.Ser6Ter)
 ClinVar dbSNP
3g.52403632_52403633delCA915942470BAP1c.1513_1514del (p.Ser505AlafsTer?)
c.1459_1460del (p.Ser487AlafsTer?)
c.119+169_119+170del
c.16_17del (p.Ser6AlafsTer?)
 ClinVar dbSNP
3g.52403632A>CCA353100886BAP1c.1513T>G (p.Ser505Ala)
c.1459T>G (p.Ser487Ala)
c.119+169T>G
c.16T>G (p.Ser6Ala)
3g.52403632A>GCA353100888BAP1c.1513T>C (p.Ser505Pro)
c.1459T>C (p.Ser487Pro)
c.119+169T>C
c.16T>C (p.Ser6Pro)
3g.52403632A>TCA353100891BAP1c.1513T>A (p.Ser505Thr)
c.1459T>A (p.Ser487Thr)
c.119+169T>A
c.16T>A (p.Ser6Thr)
3g.52403633G>ACA433886199BAP1c.1512C>T (p.Asn504=)
c.1458C>T (p.Asn486=)
c.119+168C>T
c.15C>T (p.Asn5=)
3g.52403633G>CCA353100894BAP1c.1512C>G (p.Asn504Lys)
c.1458C>G (p.Asn486Lys)
c.119+168C>G
c.15C>G (p.Asn5Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403633G=CA1364836740BAP1c.1512C= (p.Asn504=)
c.1458C= (p.Asn486=)
c.119+168C=
c.15C= (p.Asn5=)
3g.52403633G>TCA353100896BAP1c.1512C>A (p.Asn504Lys)
c.1458C>A (p.Asn486Lys)
c.119+168C>A
c.15C>A (p.Asn5Lys)
3g.52403634T>ACA353100900BAP1c.1511A>T (p.Asn504Ile)
c.1457A>T (p.Asn486Ile)
c.119+167A>T
c.14A>T (p.Asn5Ile)
3g.52403634T>CCA2436790BAP1c.1511A>G (p.Asn504Ser)
c.1457A>G (p.Asn486Ser)
c.119+167A>G
c.14A>G (p.Asn5Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403634T>GCA353100902BAP1c.1511A>C (p.Asn504Thr)
c.1457A>C (p.Asn486Thr)
c.119+167A>C
c.14A>C (p.Asn5Thr)
 dbSNP gnomAD v2 gnomAD v4
3g.52403634T=CA1364836742BAP1c.1511A= (p.Asn504=)
c.1457A= (p.Asn486=)
c.119+167A=
c.14A= (p.Asn5=)
3g.52403635T>ACA353100903BAP1c.1510A>T (p.Asn504Tyr)
c.1456A>T (p.Asn486Tyr)
c.119+166A>T
c.13A>T (p.Asn5Tyr)
 dbSNP
3g.52403635T>CCA353100904BAP1c.1510A>G (p.Asn504Asp)
c.1456A>G (p.Asn486Asp)
c.119+166A>G
c.13A>G (p.Asn5Asp)
3g.52403635T>GCA353100907BAP1c.1510A>C (p.Asn504His)
c.1456A>C (p.Asn486His)
c.119+166A>C
c.13A>C (p.Asn5His)
3g.52403636G>ACA433886201BAP1c.1509C>T (p.Phe503=)
c.1455C>T (p.Phe485=)
c.119+165C>T
c.12C>T (p.Phe4=)
 ClinVar
3g.52403636G>CCA353100913BAP1c.1509C>G (p.Phe503Leu)
c.1455C>G (p.Phe485Leu)
c.119+165C>G
c.12C>G (p.Phe4Leu)
 ClinVar gnomAD v4
3g.52403636G>TCA353100910BAP1c.1509C>A (p.Phe503Leu)
c.1455C>A (p.Phe485Leu)
c.119+165C>A
c.12C>A (p.Phe4Leu)
3g.52403637A>CCA353100915BAP1c.1508T>G (p.Phe503Cys)
c.1454T>G (p.Phe485Cys)
c.119+164T>G
c.11T>G (p.Phe4Cys)
3g.52403637A>GCA353100917BAP1c.1508T>C (p.Phe503Ser)
c.1454T>C (p.Phe485Ser)
c.119+164T>C
c.11T>C (p.Phe4Ser)
3g.52403637A>TCA353100918BAP1c.1508T>A (p.Phe503Tyr)
c.1454T>A (p.Phe485Tyr)
c.119+164T>A
c.11T>A (p.Phe4Tyr)
3g.52403639dupCA2697556702BAP1c.1508dup (p.Asn504GlnfsTer?)
c.1454dup (p.Asn486GlnfsTer?)
c.119+164dup
c.11dup (p.Asn5GlnfsTer?)
 ClinVar
3g.52403639delCA433886203BAP1c.1508del (p.Phe503SerfsTer?)
c.1454del (p.Phe485SerfsTer?)
c.119+164del
c.11del (p.Phe4SerfsTer?)
 COSMIC
3g.52403638A=CA1364836745BAP1c.1507T= (p.Phe503=)
c.1453T= (p.Phe485=)
c.119+163T=
c.10T= (p.Phe4=)
3g.52403638A>CCA353100921BAP1c.1507T>G (p.Phe503Val)
c.1453T>G (p.Phe485Val)
c.119+163T>G
c.10T>G (p.Phe4Val)
3g.52403638A>GCA2436791BAP1c.1507T>C (p.Phe503Leu)
c.1453T>C (p.Phe485Leu)
c.119+163T>C
c.10T>C (p.Phe4Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403638A>TCA353100925BAP1c.1507T>A (p.Phe503Ile)
c.1453T>A (p.Phe485Ile)
c.119+163T>A
c.10T>A (p.Phe4Ile)
3g.52403639A>CCA433886205BAP1c.1506T>G (p.Ala502=)
c.1452T>G (p.Ala484=)
c.119+162T>G
c.9T>G (p.Ala3=)
3g.52403639A>GCA433886206BAP1c.1506T>C (p.Ala502=)
c.1452T>C (p.Ala484=)
c.119+162T>C
c.9T>C (p.Ala3=)
3g.52403639A>TCA433886207BAP1c.1506T>A (p.Ala502=)
c.1452T>A (p.Ala484=)
c.119+162T>A
c.9T>A (p.Ala3=)
3g.52403640G>ACA353100928BAP1c.1505C>T (p.Ala502Val)
c.1451C>T (p.Ala484Val)
c.119+161C>T
c.8C>T (p.Ala3Val)
 ClinVar dbSNP
3g.52403640G>CCA353100930BAP1c.1505C>G (p.Ala502Gly)
c.1451C>G (p.Ala484Gly)
c.119+161C>G
c.8C>G (p.Ala3Gly)
 ClinVar dbSNP gnomAD v4
3g.52403640G>TCA353100933BAP1c.1505C>A (p.Ala502Asp)
c.1451C>A (p.Ala484Asp)
c.119+161C>A
c.8C>A (p.Ala3Asp)
 ClinVar
3g.52403641C>ACA353100936BAP1c.1504G>T (p.Ala502Ser)
c.1450G>T (p.Ala484Ser)
c.119+160G>T
c.7G>T (p.Ala3Ser)
3g.52403641C>GCA353100937BAP1c.1504G>C (p.Ala502Pro)
c.1450G>C (p.Ala484Pro)
c.119+160G>C
c.7G>C (p.Ala3Pro)
3g.52403641C>TCA353100938BAP1c.1504G>A (p.Ala502Thr)
c.1450G>A (p.Ala484Thr)
c.119+160G>A
c.7G>A (p.Ala3Thr)
 ClinVar
3g.52403642A=CA1364836748BAP1c.1503T= (p.Ser501=)
c.1449T= (p.Ser483=)
c.119+159T=
c.6T= (p.Ser2=)
3g.52403642A>CCA74740732BAP1c.1503T>G (p.Ser501Arg)
c.1449T>G (p.Ser483Arg)
c.119+159T>G
c.6T>G (p.Ser2Arg)
 dbSNP
3g.52403642A>GCA433886211BAP1c.1503T>C (p.Ser501=)
c.1449T>C (p.Ser483=)
c.119+159T>C
c.6T>C (p.Ser2=)
3g.52403642A>TCA353100939BAP1c.1503T>A (p.Ser501Arg)
c.1449T>A (p.Ser483Arg)
c.119+159T>A
c.6T>A (p.Ser2Arg)
 dbSNP
3g.52403643C>ACA353100950BAP1c.1502G>T (p.Ser501Ile)
c.1448G>T (p.Ser483Ile)
c.119+158G>T
c.5G>T (p.Ser2Ile)
3g.52403643C>GCA353100955BAP1c.1502G>C (p.Ser501Thr)
c.1448G>C (p.Ser483Thr)
c.119+158G>C
c.5G>C (p.Ser2Thr)
3g.52403643C>TCA353100953BAP1c.1502G>A (p.Ser501Asn)
c.1448G>A (p.Ser483Asn)
c.119+158G>A
c.5G>A (p.Ser2Asn)
3g.52403644T>ACA353100959BAP1c.1501A>T (p.Ser501Cys)
c.1447A>T (p.Ser483Cys)
c.119+157A>T
c.4A>T (p.Ser2Cys)

Number of alleles fetched