Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42909274T>GCA2638040775G6PC1c.447-29T>G (n.447-29T>G)
c.447-1641T>G (n.447-1641T>G)
c.370-29T>G (n.370-29T>G)
 gnomAD v4
17g.42909274_42909275dupCA2638040774G6PC1c.447-29_447-28dup (n.447-29_447-28dup)
c.447-1641_447-1640dup (n.447-1641_447-1640dup)
c.370-29_370-28dup (n.370-29_370-28dup)
 gnomAD v4
17g.42909276_42909277delCA2638040776G6PC1c.447-27_447-26del (n.447-27_447-26del)
c.447-1639_447-1638del (n.447-1639_447-1638del)
c.370-27_370-26del (n.370-27_370-26del)
 gnomAD v4
17g.42909276C>ACA2638040777G6PC1c.447-27C>A (n.447-27C>A)
c.447-1639C>A (n.447-1639C>A)
c.370-27C>A (n.370-27C>A)
 gnomAD v4
17g.42909278G>ACA8587583G6PC1c.447-25G>A (n.447-25G>A)
c.447-1637G>A (n.447-1637G>A)
c.370-25G>A (n.370-25G>A)
 dbSNP ExAC gnomAD v2
17g.42909278G=CA2260696612G6PC1c.447-25G= (n.447-25G=)
c.447-1637G= (n.447-1637G=)
c.370-25G= (n.370-25G=)
17g.42909278G>TCA2809535861G6PC1c.447-25G>T (n.447-25G>T)
c.447-1637G>T (n.447-1637G>T)
c.370-25G>T (n.370-25G>T)
17g.42909281A=CA2260696613G6PC1c.447-22A= (n.447-22A=)
c.447-1634A= (n.447-1634A=)
c.370-22A= (n.370-22A=)
17g.42909281A>GCA2260696614G6PC1c.447-22A>G (n.447-22A>G)
c.447-1634A>G (n.447-1634A>G)
c.370-22A>G (n.370-22A>G)
 dbSNP gnomAD v4
17g.42909282T>CCA8587584G6PC1c.447-21T>C (n.447-21T>C)
c.447-1633T>C (n.447-1633T>C)
c.370-21T>C (n.370-21T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909282T=CA2260696615G6PC1c.447-21T= (n.447-21T=)
c.447-1633T= (n.447-1633T=)
c.370-21T= (n.370-21T=)
17g.42909283G>ACA626070436G6PC1c.447-20G>A (n.447-20G>A)
c.447-1632G>A (n.447-1632G>A)
c.370-20G>A (n.370-20G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42909283G=CA2260696616G6PC1c.447-20G= (n.447-20G=)
c.447-1632G= (n.447-1632G=)
c.370-20G= (n.370-20G=)
17g.42909284delCA2576280988G6PC1c.447-19del (n.447-19del)
c.447-1631del (n.447-1631del)
c.370-19del (n.370-19del)
 gnomAD v4
17g.42909285T>CCA2638040786G6PC1c.447-18T>C (n.447-18T>C)
c.447-1630T>C (n.447-1630T>C)
c.370-18T>C (n.370-18T>C)
 gnomAD v4
17g.42909286delCA2638040784G6PC1c.447-17del (n.447-17del)
c.447-1629del (n.447-1629del)
c.370-17del (n.370-17del)
 gnomAD v4
17g.42909287G>ACA290788861G6PC1c.447-16G>A (n.447-16G>A)
c.447-1628G>A (n.447-1628G>A)
c.370-16G>A (n.370-16G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.42909287G=CA2260696617G6PC1c.447-16G= (n.447-16G=)
c.447-1628G= (n.447-1628G=)
c.370-16G= (n.370-16G=)
17g.42909288C>ACA2638040789G6PC1c.447-15C>A (n.447-15C>A)
c.447-1627C>A (n.447-1627C>A)
c.370-15C>A (n.370-15C>A)
 gnomAD v4
17g.42909288C=CA2260696618G6PC1c.447-15C= (n.447-15C=)
c.447-1627C= (n.447-1627C=)
c.370-15C= (n.370-15C=)
17g.42909288C>TCA2260696619G6PC1c.447-15C>T (n.447-15C>T)
c.447-1627C>T (n.447-1627C>T)
c.370-15C>T (n.370-15C>T)
 dbSNP gnomAD v4
17g.42909289C>ACA2638040790G6PC1c.447-14C>A (n.447-14C>A)
c.447-1626C>A (n.447-1626C>A)
c.370-14C>A (n.370-14C>A)
 gnomAD v4
17g.42909289C=CA2260696620G6PC1c.447-14C= (n.447-14C=)
c.447-1626C= (n.447-1626C=)
c.370-14C= (n.370-14C=)
17g.42909289C>TCA8587585G6PC1c.447-14C>T (n.447-14C>T)
c.447-1626C>T (n.447-1626C>T)
c.370-14C>T (n.370-14C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909290T>CCA2638040791G6PC1c.447-13T>C (n.447-13T>C)
c.447-1625T>C (n.447-1625T>C)
c.370-13T>C (n.370-13T>C)
 gnomAD v4
17g.42909290T>GCA8587586G6PC1c.447-13T>G (n.447-13T>G)
c.447-1625T>G (n.447-1625T>G)
c.370-13T>G (n.370-13T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909290T=CA2260696621G6PC1c.447-13T= (n.447-13T=)
c.447-1625T= (n.447-1625T=)
c.370-13T= (n.370-13T=)
17g.42909291C>GCA2638040792G6PC1c.447-12C>G (n.447-12C>G)
c.447-1624C>G (n.447-1624C>G)
c.370-12C>G (n.370-12C>G)
 gnomAD v4
17g.42909291C>TCA2809535862G6PC1c.447-12C>T (n.447-12C>T)
c.447-1624C>T (n.447-1624C>T)
c.370-12C>T (n.370-12C>T)
17g.42909292T>ACA2551136688G6PC1c.447-11T>A (n.447-11T>A)
c.447-1623T>A (n.447-1623T>A)
c.370-11T>A (n.370-11T>A)
17g.42909292T>CCA2576280989G6PC1c.447-11T>C (n.447-11T>C)
c.447-1623T>C (n.447-1623T>C)
c.370-11T>C (n.370-11T>C)
 gnomAD v4
17g.42909294C>ACA2638040794G6PC1c.447-9C>A (n.447-9C>A)
c.447-1621C>A (n.447-1621C>A)
c.370-9C>A (n.370-9C>A)
 gnomAD v4
17g.42909294C=CA2260696622G6PC1c.447-9C= (n.447-9C=)
c.447-1621C= (n.447-1621C=)
c.370-9C= (n.370-9C=)
17g.42909294C>GCA2638040795G6PC1c.447-9C>G (n.447-9C>G)
c.447-1621C>G (n.447-1621C>G)
c.370-9C>G (n.370-9C>G)
 gnomAD v4
17g.42909294C>TCA8587587G6PC1c.447-9C>T (n.447-9C>T)
c.447-1621C>T (n.447-1621C>T)
c.370-9C>T (n.370-9C>T)
 dbSNP ExAC gnomAD v2
17g.42909295T>CCA2638040796G6PC1c.447-8T>C (n.447-8T>C)
c.447-1620T>C (n.447-1620T>C)
c.370-8T>C (n.370-8T>C)
 gnomAD v4
17g.42909296G>ACA2638040797G6PC1c.447-7G>A (n.447-7G>A)
c.447-1619G>A (n.447-1619G>A)
c.370-7G>A (n.370-7G>A)
 gnomAD v4
17g.42909297T>CCA915950016G6PC1c.447-6T>C (n.447-6T>C)
c.447-1618T>C (n.447-1618T>C)
c.370-6T>C (n.370-6T>C)
 ClinVar dbSNP
17g.42909297T=CA2260696623G6PC1c.447-6T= (n.447-6T=)
c.447-1618T= (n.447-1618T=)
c.370-6T= (n.370-6T=)
17g.42909299G>ACA8587588G6PC1c.447-4G>A (n.447-4G>A)
c.447-1616G>A (n.447-1616G>A)
c.370-4G>A (n.370-4G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909299G=CA2260696624G6PC1c.447-4G= (n.447-4G=)
c.447-1616G= (n.447-1616G=)
c.370-4G= (n.370-4G=)
17g.42909300C>ACA2638040800G6PC1c.447-3C>A (n.447-3C>A)
c.447-1615C>A (n.447-1615C>A)
c.370-3C>A (n.370-3C>A)
 gnomAD v4
17g.42909301A>CCA399654635G6PC1c.447-2A>C (n.447-2A>C)
c.447-1614A>C (n.447-1614A>C)
c.370-2A>C (n.370-2A>C)
17g.42909301A>GCA399654637G6PC1c.447-2A>G (n.447-2A>G)
c.447-1614A>G (n.447-1614A>G)
c.370-2A>G (n.370-2A>G)
17g.42909301A>TCA399654638G6PC1c.447-2A>T (n.447-2A>T)
c.447-1614A>T (n.447-1614A>T)
c.370-2A>T (n.370-2A>T)
17g.42909302G>ACA399654644G6PC1c.447-1G>A (n.447-1G>A)
c.447-1613G>A (n.447-1613G>A)
c.370-1G>A (n.370-1G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42909302G>CCA399654642G6PC1c.447-1G>C (n.447-1G>C)
c.447-1613G>C (n.447-1613G>C)
c.370-1G>C (n.370-1G>C)
 ClinVar gnomAD v4
17g.42909302G=CA2260696625G6PC1c.447-1G= (n.447-1G=)
c.447-1613G= (n.447-1613G=)
c.370-1G= (n.370-1G=)
17g.42909302G>TCA399654641G6PC1c.447-1G>T (n.447-1G>T)
c.447-1613G>T (n.447-1613G>T)
c.370-1G>T (n.370-1G>T)
17g.42909303G>ACA8587589G6PC1c.447G>A (p.Arg149=)
c.447-1612G>A (n.447-1612G>A)
c.370G>A (p.Val124Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42909303G>CCA399654646G6PC1c.447G>C (p.Arg149=)
c.447-1612G>C (n.447-1612G>C)
c.370G>C (p.Val124Leu)
17g.42909303G=CA2260696626G6PC1c.447G= (p.Arg149=)
c.447-1612G= (n.447-1612G=)
c.370G= (p.Val124=)
17g.42909303G>TCA399654648G6PC1c.447G>T (p.Arg149=)
c.447-1612G>T (n.447-1612G>T)
c.370G>T (p.Val124Leu)
17g.42909304T>ACA399654649G6PC1c.448T>A (p.Cys150Ser)
c.447-1611T>A (n.447-1611T>A)
c.371T>A (p.Val124Glu)
17g.42909304T>CCA399654651G6PC1c.448T>C (p.Cys150Arg)
c.447-1611T>C (n.447-1611T>C)
c.371T>C (p.Val124Ala)
17g.42909304T>GCA399654652G6PC1c.448T>G (p.Cys150Gly)
c.447-1611T>G (n.447-1611T>G)
c.371T>G (p.Val124Gly)
 dbSNP COSMIC
17g.42909304T=CA2260696627G6PC1c.448T= (p.Cys150=)
c.447-1611T= (n.447-1611T=)
c.371T= (p.Val124=)
17g.42909305G>ACA399654654G6PC1c.449G>A (p.Cys150Tyr)
c.447-1610G>A (n.447-1610G>A)
c.372G>A (p.Val124=)
17g.42909305G>CCA399654656G6PC1c.449G>C (p.Cys150Ser)
c.447-1610G>C (n.447-1610G>C)
c.372G>C (p.Val124=)
17g.42909305G>TCA399654657G6PC1c.449G>T (p.Cys150Phe)
c.447-1610G>T (n.447-1610G>T)
c.372G>T (p.Val124=)
17g.42909306delCA2573154240G6PC1c.450del (p.Leu151Ter)
c.447-1609del (n.447-1609del)
c.373del (p.Glu126AsnfsTer?)
 ClinVar dbSNP
17g.42909306C>ACA399654659G6PC1c.450C>A (p.Cys150Ter)
c.447-1609C>A (n.447-1609C>A)
c.373C>A (p.Leu125Ile)
17g.42909306C=CA2260696628G6PC1c.450C= (p.Cys150=)
c.447-1609C= (n.447-1609C=)
c.373C= (p.Leu125=)
17g.42909306C>GCA399654661G6PC1c.450C>G (p.Cys150Trp)
c.447-1609C>G (n.447-1609C>G)
c.373C>G (p.Leu125Val)
17g.42909306C>TCA8587590G6PC1c.450C>T (p.Cys150=)
c.447-1609C>T (n.447-1609C>T)
c.373C>T (p.Leu125Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909307T>ACA399654666G6PC1c.451T>A (p.Leu151Met)
c.447-1608T>A (n.447-1608T>A)
c.374T>A (p.Leu125His)
17g.42909307T>CCA399654664G6PC1c.451T>C (p.Leu151=)
c.447-1608T>C (n.447-1608T>C)
c.374T>C (p.Leu125Pro)
17g.42909307T>GCA399654663G6PC1c.451T>G (p.Leu151Val)
c.447-1608T>G (n.447-1608T>G)
c.374T>G (p.Leu125Arg)
17g.42909308T>ACA399654668G6PC1c.452T>A (p.Leu151Ter)
c.447-1607T>A (n.447-1607T>A)
c.375T>A (p.Leu125=)
17g.42909308T>CCA399654670G6PC1c.452T>C (p.Leu151Ser)
c.447-1607T>C (n.447-1607T>C)
c.375T>C (p.Leu125=)
17g.42909308T>GCA399654671G6PC1c.452T>G (p.Leu151Trp)
c.447-1607T>G (n.447-1607T>G)
c.375T>G (p.Leu125=)
17g.42909309G>ACA8587591G6PC1c.453G>A (p.Leu151=)
c.447-1606G>A (n.447-1606G>A)
c.376G>A (p.Glu126Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42909309G>CCA399654673G6PC1c.453G>C (p.Leu151Phe)
c.447-1606G>C (n.447-1606G>C)
c.376G>C (p.Glu126Gln)
17g.42909309G=CA2260696629G6PC1c.453G= (p.Leu151=)
c.447-1606G= (n.447-1606G=)
c.376G= (p.Glu126=)
17g.42909309G>TCA399654674G6PC1c.453G>T (p.Leu151Phe)
c.447-1606G>T (n.447-1606G>T)
c.376G>T (p.Glu126Ter)
17g.42909310A>CCA399654676G6PC1c.454A>C (p.Asn152His)
c.447-1605A>C (n.447-1605A>C)
c.377A>C (p.Glu126Ala)
17g.42909310A>GCA399654677G6PC1c.454A>G (p.Asn152Asp)
c.447-1605A>G (n.447-1605A>G)
c.377A>G (p.Glu126Gly)
17g.42909310A>TCA399654679G6PC1c.454A>T (p.Asn152Tyr)
c.447-1605A>T (n.447-1605A>T)
c.377A>T (p.Glu126Val)
17g.42909311A=CA2260696630G6PC1c.455A= (p.Asn152=)
c.447-1604A= (n.447-1604A=)
c.378A= (p.Glu126=)
17g.42909311A>CCA399654681G6PC1c.455A>C (p.Asn152Thr)
c.447-1604A>C (n.447-1604A>C)
c.378A>C (p.Glu126Asp)
17g.42909311A>GCA399654682G6PC1c.455A>G (p.Asn152Ser)
c.447-1604A>G (n.447-1604A>G)
c.378A>G (p.Glu126=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42909311A>TCA399654684G6PC1c.455A>T (p.Asn152Ile)
c.447-1604A>T (n.447-1604A>T)
c.378A>T (p.Glu126Asp)
17g.42909312T>ACA399654688G6PC1c.456T>A (p.Asn152Lys)
c.447-1603T>A (n.447-1603T>A)
c.379T>A (p.Cys127Ser)
17g.42909312T>CCA399654687G6PC1c.456T>C (p.Asn152=)
c.447-1603T>C (n.447-1603T>C)
c.379T>C (p.Cys127Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42909312T>GCA399654686G6PC1c.456T>G (p.Asn152Lys)
c.447-1603T>G (n.447-1603T>G)
c.379T>G (p.Cys127Gly)
17g.42909312T=CA2260696631G6PC1c.456T= (p.Asn152=)
c.447-1603T= (n.447-1603T=)
c.379T= (p.Cys127=)
17g.42909313G>ACA399654689G6PC1c.457G>A (p.Val153Ile)
c.447-1602G>A (n.447-1602G>A)
c.380G>A (p.Cys127Tyr)
 dbSNP gnomAD v3 gnomAD v4
17g.42909313G>CCA399654691G6PC1c.457G>C (p.Val153Leu)
c.447-1602G>C (n.447-1602G>C)
c.380G>C (p.Cys127Ser)
17g.42909313G=CA2260696632G6PC1c.457G= (p.Val153=)
c.447-1602G= (n.447-1602G=)
c.380G= (p.Cys127=)
17g.42909313G>TCA399654692G6PC1c.457G>T (p.Val153Phe)
c.447-1602G>T (n.447-1602G>T)
c.380G>T (p.Cys127Phe)
17g.42909314T>ACA399654694G6PC1c.458T>A (p.Val153Asp)
c.447-1601T>A (n.447-1601T>A)
c.381T>A (p.Cys127Ter)
17g.42909314T>CCA8587592G6PC1c.458T>C (p.Val153Ala)
c.447-1601T>C (n.447-1601T>C)
c.381T>C (p.Cys127=)
 dbSNP ExAC gnomAD v4
17g.42909314T>GCA399654696G6PC1c.458T>G (p.Val153Gly)
c.447-1601T>G (n.447-1601T>G)
c.381T>G (p.Cys127Trp)
17g.42909314T=CA2260696633G6PC1c.458T= (p.Val153=)
c.447-1601T= (n.447-1601T=)
c.381T= (p.Cys127=)
17g.42909315C>ACA399654698G6PC1c.459C>A (p.Val153=)
c.447-1600C>A (n.447-1600C>A)
c.382C>A (p.His128Asn)
17g.42909315C=CA2260696634G6PC1c.459C= (p.Val153=)
c.447-1600C= (n.447-1600C=)
c.382C= (p.His128=)
17g.42909315C>GCA399654699G6PC1c.459C>G (p.Val153=)
c.447-1600C>G (n.447-1600C>G)
c.382C>G (p.His128Asp)
17g.42909315C>TCA8587593G6PC1c.459C>T (p.Val153=)
c.447-1600C>T (n.447-1600C>T)
c.382C>T (p.His128Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909316A>CCA399654702G6PC1c.460A>C (p.Ile154Leu)
c.447-1599A>C (n.447-1599A>C)
c.383A>C (p.His128Pro)
17g.42909316A>GCA399654703G6PC1c.460A>G (p.Ile154Val)
c.447-1599A>G (n.447-1599A>G)
c.383A>G (p.His128Arg)
17g.42909316A>TCA399654705G6PC1c.460A>T (p.Ile154Phe)
c.447-1599A>T (n.447-1599A>T)
c.383A>T (p.His128Leu)
17g.42909317T>ACA399654708G6PC1c.461T>A (p.Ile154Asn)
c.447-1598T>A (n.447-1598T>A)
c.384T>A (p.His128Gln)
17g.42909317T>CCA399654707G6PC1c.461T>C (p.Ile154Thr)
c.447-1598T>C (n.447-1598T>C)
c.384T>C (p.His128=)
17g.42909317T>GCA399654706G6PC1c.461T>G (p.Ile154Ser)
c.447-1598T>G (n.447-1598T>G)
c.384T>G (p.His128Gln)
17g.42909318_42909322delCA2638040822G6PC1c.462_466del (p.Ile154MetfsTer?)
c.447-1597_447-1593del (n.447-1597_447-1593del)
c.385_389del (p.Phe129GlyfsTer9)
 ClinVar gnomAD v4
17g.42909318T>ACA399654710G6PC1c.462T>A (p.Ile154=)
c.447-1597T>A (n.447-1597T>A)
c.385T>A (p.Phe129Ile)
17g.42909318T>CCA399654713G6PC1c.462T>C (p.Ile154=)
c.447-1597T>C (n.447-1597T>C)
c.385T>C (p.Phe129Leu)
 gnomAD v4
17g.42909318T>GCA399654712G6PC1c.462T>G (p.Ile154Met)
c.447-1597T>G (n.447-1597T>G)
c.385T>G (p.Phe129Val)
17g.42909319T>ACA399654714G6PC1c.463T>A (p.Leu155Met)
c.447-1596T>A (n.447-1596T>A)
c.386T>A (p.Phe129Tyr)
17g.42909319T>CCA399654718G6PC1c.463T>C (p.Leu155=)
c.447-1596T>C (n.447-1596T>C)
c.386T>C (p.Phe129Ser)
17g.42909319T>GCA399654716G6PC1c.463T>G (p.Leu155Val)
c.447-1596T>G (n.447-1596T>G)
c.386T>G (p.Phe129Cys)
17g.42909320T>ACA399654719G6PC1c.464T>A (p.Leu155Ter)
c.447-1595T>A (n.447-1595T>A)
c.387T>A (p.Phe129Leu)
17g.42909320T>CCA399654721G6PC1c.464T>C (p.Leu155Ser)
c.447-1595T>C (n.447-1595T>C)
c.387T>C (p.Phe129=)
 gnomAD v4
17g.42909320T>GCA399654722G6PC1c.464T>G (p.Leu155Trp)
c.447-1595T>G (n.447-1595T>G)
c.387T>G (p.Phe129Leu)
17g.42909321G>ACA399654724G6PC1c.465G>A (p.Leu155=)
c.447-1594G>A (n.447-1594G>A)
c.388G>A (p.Val130Met)
17g.42909321G>CCA399654726G6PC1c.465G>C (p.Leu155Phe)
c.447-1594G>C (n.447-1594G>C)
c.388G>C (p.Val130Leu)
17g.42909321G>TCA399654728G6PC1c.465G>T (p.Leu155Phe)
c.447-1594G>T (n.447-1594G>T)
c.388G>T (p.Val130Leu)
17g.42909322T>ACA399654729G6PC1c.466T>A (p.Trp156Arg)
c.447-1593T>A (n.447-1593T>A)
c.389T>A (p.Val130Glu)
17g.42909322T>CCA399654730G6PC1c.466T>C (p.Trp156Arg)
c.447-1593T>C (n.447-1593T>C)
c.389T>C (p.Val130Ala)
17g.42909322T>GCA399654731G6PC1c.466T>G (p.Trp156Gly)
c.447-1593T>G (n.447-1593T>G)
c.389T>G (p.Val130Gly)
 gnomAD v4
17g.42909323G>ACA399654733G6PC1c.467G>A (p.Trp156Ter)
c.447-1592G>A (n.447-1592G>A)
c.390G>A (p.Val130=)
 dbSNP gnomAD v2 gnomAD v4
17g.42909323G>CCA399654734G6PC1c.467G>C (p.Trp156Ser)
c.447-1592G>C (n.447-1592G>C)
c.390G>C (p.Val130=)
17g.42909323G=CA2260696635G6PC1c.467G= (p.Trp156=)
c.447-1592G= (n.447-1592G=)
c.390G= (p.Val130=)
17g.42909323G>TCA399654736G6PC1c.467G>T (p.Trp156Leu)
c.447-1592G>T (n.447-1592G>T)
c.390G>T (p.Val130=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42909324G>ACA399654738G6PC1c.468G>A (p.Trp156Ter)
c.447-1591G>A (n.447-1591G>A)
c.391G>A (p.Val131Ile)
 ClinVar dbSNP
17g.42909324G>CCA399654741G6PC1c.468G>C (p.Trp156Cys)
c.447-1591G>C (n.447-1591G>C)
c.391G>C (p.Val131Leu)
17g.42909324G=CA2260696636G6PC1c.468G= (p.Trp156=)
c.447-1591G= (n.447-1591G=)
c.391G= (p.Val131=)
17g.42909324G>TCA399654739G6PC1c.468G>T (p.Trp156Cys)
c.447-1591G>T (n.447-1591G>T)
c.391G>T (p.Val131Phe)
17g.42909325T>ACA399654742G6PC1c.469T>A (p.Leu157Met)
c.447-1590T>A (n.447-1590T>A)
c.392T>A (p.Val131Asp)
17g.42909325T>CCA399654744G6PC1c.469T>C (p.Leu157=)
c.447-1590T>C (n.447-1590T>C)
c.392T>C (p.Val131Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42909325T>GCA399654746G6PC1c.469T>G (p.Leu157Val)
c.447-1590T>G (n.447-1590T>G)
c.392T>G (p.Val131Gly)
17g.42909325T=CA2260696637G6PC1c.469T= (p.Leu157=)
c.447-1590T= (n.447-1590T=)
c.392T= (p.Val131=)
17g.42909326T>ACA399654748G6PC1c.470T>A (p.Leu157Ter)
c.447-1589T>A (n.447-1589T>A)
c.393T>A (p.Val131=)
17g.42909326T>CCA399654749G6PC1c.470T>C (p.Leu157Ser)
c.447-1589T>C (n.447-1589T>C)
c.393T>C (p.Val131=)
 gnomAD v4
17g.42909326T>GCA399654750G6PC1c.470T>G (p.Leu157Trp)
c.447-1589T>G (n.447-1589T>G)
c.393T>G (p.Val131=)
 dbSNP
17g.42909326T=CA2260696638G6PC1c.470T= (p.Leu157=)
c.447-1589T= (n.447-1589T=)
c.393T= (p.Val131=)
17g.42909327G>ACA8587594G6PC1c.471G>A (p.Leu157=)
c.447-1588G>A (n.447-1588G>A)
c.394G>A (p.Gly132Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42909327G>CCA399654753G6PC1c.471G>C (p.Leu157Phe)
c.447-1588G>C (n.447-1588G>C)
c.394G>C (p.Gly132Arg)
17g.42909327G=CA2260696639G6PC1c.471G= (p.Leu157=)
c.447-1588G= (n.447-1588G=)
c.394G= (p.Gly132=)
17g.42909327G>TCA399654757G6PC1c.471G>T (p.Leu157Phe)
c.447-1588G>T (n.447-1588G>T)
c.394G>T (p.Gly132Trp)
 COSMIC
17g.42909328G>ACA399654761G6PC1c.472G>A (p.Gly158Arg)
c.447-1587G>A (n.447-1587G>A)
c.395G>A (p.Gly132Glu)
17g.42909328G>CCA399654762G6PC1c.472G>C (p.Gly158Arg)
c.447-1587G>C (n.447-1587G>C)
c.395G>C (p.Gly132Ala)
 dbSNP gnomAD v3 gnomAD v4
17g.42909328G=CA2260696640G6PC1c.472G= (p.Gly158=)
c.447-1587G= (n.447-1587G=)
c.395G= (p.Gly132=)
17g.42909328G>TCA399654759G6PC1c.472G>T (p.Gly158Ter)
c.447-1587G>T (n.447-1587G>T)
c.395G>T (p.Gly132Val)
17g.42909329G>ACA399654763G6PC1c.473G>A (p.Gly158Glu)
c.447-1586G>A (n.447-1586G>A)
c.396G>A (p.Gly132=)
 ClinVar dbSNP
17g.42909329G>CCA399654764G6PC1c.473G>C (p.Gly158Ala)
c.447-1586G>C (n.447-1586G>C)
c.396G>C (p.Gly132=)
17g.42909329G>TCA399654766G6PC1c.473G>T (p.Gly158Val)
c.447-1586G>T (n.447-1586G>T)
c.396G>T (p.Gly132=)
17g.42909330A=CA2260696641G6PC1c.474A= (p.Gly158=)
c.447-1585A= (n.447-1585A=)
c.397A= (p.Ile133=)
17g.42909330A>CCA399654768G6PC1c.474A>C (p.Gly158=)
c.447-1585A>C (n.447-1585A>C)
c.397A>C (p.Ile133Leu)
17g.42909330A>GCA399654769G6PC1c.474A>G (p.Gly158=)
c.447-1585A>G (n.447-1585A>G)
c.397A>G (p.Ile133Val)
 dbSNP
17g.42909330A>TCA399654770G6PC1c.474A>T (p.Gly158=)
c.447-1585A>T (n.447-1585A>T)
c.397A>T (p.Ile133Phe)
17g.42909331T>ACA399654775G6PC1c.475T>A (p.Phe159Ile)
c.447-1584T>A (n.447-1584T>A)
c.398T>A (p.Ile133Asn)
17g.42909331T>CCA399654772G6PC1c.475T>C (p.Phe159Leu)
c.447-1584T>C (n.447-1584T>C)
c.398T>C (p.Ile133Thr)
17g.42909331T>GCA399654773G6PC1c.475T>G (p.Phe159Val)
c.447-1584T>G (n.447-1584T>G)
c.398T>G (p.Ile133Ser)
17g.42909332T>ACA399654777G6PC1c.476T>A (p.Phe159Tyr)
c.447-1583T>A (n.447-1583T>A)
c.399T>A (p.Ile133=)
17g.42909332T>CCA399654778G6PC1c.476T>C (p.Phe159Ser)
c.447-1583T>C (n.447-1583T>C)
c.399T>C (p.Ile133=)
17g.42909332T>GCA399654779G6PC1c.476T>G (p.Phe159Cys)
c.447-1583T>G (n.447-1583T>G)
c.399T>G (p.Ile133Met)
17g.42909333C>ACA399654781G6PC1c.477C>A (p.Phe159Leu)
c.447-1582C>A (n.447-1582C>A)
c.400C>A (p.Leu134Met)
17g.42909333C>GCA399654783G6PC1c.477C>G (p.Phe159Leu)
c.447-1582C>G (n.447-1582C>G)
c.400C>G (p.Leu134Val)
17g.42909333C>TCA500103899G6PC1c.477C>T (p.Phe159=)
c.447-1582C>T (n.447-1582C>T)
c.400C>T (p.Leu134=)
17g.42909334T>ACA399654784G6PC1c.478T>A (p.Trp160Arg)
c.447-1581T>A (n.447-1581T>A)
c.401T>A (p.Leu134Gln)
17g.42909334T>CCA399654786G6PC1c.478T>C (p.Trp160Arg)
c.447-1581T>C (n.447-1581T>C)
c.401T>C (p.Leu134Pro)
17g.42909334T>GCA399654785G6PC1c.478T>G (p.Trp160Gly)
c.447-1581T>G (n.447-1581T>G)
c.401T>G (p.Leu134Arg)
17g.42909335G>ACA399654787G6PC1c.479G>A (p.Trp160Ter)
c.447-1580G>A (n.447-1580G>A)
c.402G>A (p.Leu134=)
 ClinVar dbSNP
17g.42909335G>CCA399654789G6PC1c.479G>C (p.Trp160Ser)
c.447-1580G>C (n.447-1580G>C)
c.402G>C (p.Leu134=)
17g.42909335G=CA2260696642G6PC1c.479G= (p.Trp160=)
c.447-1580G= (n.447-1580G=)
c.402G= (p.Leu134=)
17g.42909335G>TCA399654791G6PC1c.479G>T (p.Trp160Leu)
c.447-1580G>T (n.447-1580G>T)
c.402G>T (p.Leu134=)
17g.42909336G>ACA399654792G6PC1c.480G>A (p.Trp160Ter)
c.447-1579G>A (n.447-1579G>A)
c.403G>A (p.Gly135Ser)
 ClinVar
17g.42909336G>CCA399654793G6PC1c.480G>C (p.Trp160Cys)
c.447-1579G>C (n.447-1579G>C)
c.403G>C (p.Gly135Arg)
17g.42909336G>TCA399654795G6PC1c.480G>T (p.Trp160Cys)
c.447-1579G>T (n.447-1579G>T)
c.403G>T (p.Gly135Cys)
17g.42909337G>ACA399654797G6PC1c.481G>A (p.Ala161Thr)
c.447-1578G>A (n.447-1578G>A)
c.404G>A (p.Gly135Asp)
17g.42909337G>CCA399654799G6PC1c.481G>C (p.Ala161Pro)
c.447-1578G>C (n.447-1578G>C)
c.404G>C (p.Gly135Ala)
17g.42909337G>TCA399654800G6PC1c.481G>T (p.Ala161Ser)
c.447-1578G>T (n.447-1578G>T)
c.404G>T (p.Gly135Val)
 gnomAD v4
17g.42909338C>ACA399654802G6PC1c.482C>A (p.Ala161Asp)
c.447-1577C>A (n.447-1577C>A)
c.405C>A (p.Gly135=)
17g.42909338C>GCA399654804G6PC1c.482C>G (p.Ala161Gly)
c.447-1577C>G (n.447-1577C>G)
c.405C>G (p.Gly135=)
17g.42909338C>TCA399654805G6PC1c.482C>T (p.Ala161Val)
c.447-1577C>T (n.447-1577C>T)
c.405C>T (p.Gly135=)
 gnomAD v4
17g.42909339T>ACA399654810G6PC1c.483T>A (p.Ala161=)
c.447-1576T>A (n.447-1576T>A)
c.406T>A (p.Cys136Ser)
17g.42909339T>CCA399654808G6PC1c.483T>C (p.Ala161=)
c.447-1576T>C (n.447-1576T>C)
c.406T>C (p.Cys136Arg)
17g.42909339T>GCA399654806G6PC1c.483T>G (p.Ala161=)
c.447-1576T>G (n.447-1576T>G)
c.406T>G (p.Cys136Gly)
17g.42909340G>ACA399654813G6PC1c.484G>A (p.Val162Met)
c.447-1575G>A (n.447-1575G>A)
c.407G>A (p.Cys136Tyr)
 gnomAD v4
17g.42909340G>CCA399654812G6PC1c.484G>C (p.Val162Leu)
c.447-1575G>C (n.447-1575G>C)
c.407G>C (p.Cys136Ser)
17g.42909340G>TCA399654814G6PC1c.484G>T (p.Val162Leu)
c.447-1575G>T (n.447-1575G>T)
c.407G>T (p.Cys136Phe)
17g.42909341T>ACA399654816G6PC1c.485T>A (p.Val162Glu)
c.447-1574T>A (n.447-1574T>A)
c.408T>A (p.Cys136Ter)
17g.42909341T>CCA399654818G6PC1c.485T>C (p.Val162Ala)
c.447-1574T>C (n.447-1574T>C)
c.408T>C (p.Cys136=)
 gnomAD v4
17g.42909341T>GCA399654819G6PC1c.485T>G (p.Val162Gly)
c.447-1574T>G (n.447-1574T>G)
c.408T>G (p.Cys136Trp)
17g.42909342G>ACA399654821G6PC1c.486G>A (p.Val162=)
c.447-1573G>A (n.447-1573G>A)
c.409G>A (p.Ala137Thr)
 ClinVar gnomAD v4
17g.42909342G>CCA399654822G6PC1c.486G>C (p.Val162=)
c.447-1573G>C (n.447-1573G>C)
c.409G>C (p.Ala137Pro)
17g.42909342G>TCA399654823G6PC1c.486G>T (p.Val162=)
c.447-1573G>T (n.447-1573G>T)
c.409G>T (p.Ala137Ser)
17g.42909343C>ACA399654825G6PC1c.487C>A (p.Gln163Lys)
c.447-1572C>A (n.447-1572C>A)
c.410C>A (p.Ala137Glu)
17g.42909343C>GCA399654827G6PC1c.487C>G (p.Gln163Glu)
c.447-1572C>G (n.447-1572C>G)
c.410C>G (p.Ala137Gly)
17g.42909343C>TCA399654829G6PC1c.487C>T (p.Gln163Ter)
c.447-1572C>T (n.447-1572C>T)
c.410C>T (p.Ala137Val)
17g.42909344A>CCA399654830G6PC1c.488A>C (p.Gln163Pro)
c.447-1571A>C (n.447-1571A>C)
c.411A>C (p.Ala137=)
17g.42909344A>GCA399654831G6PC1c.488A>G (p.Gln163Arg)
c.447-1571A>G (n.447-1571A>G)
c.411A>G (p.Ala137=)
17g.42909344A>TCA399654833G6PC1c.488A>T (p.Gln163Leu)
c.447-1571A>T (n.447-1571A>T)
c.411A>T (p.Ala137=)
17g.42909345G>ACA399654838G6PC1c.489G>A (p.Gln163=)
c.447-1570G>A (n.447-1570G>A)
c.412G>A (p.Ala138Thr)
 ClinVar dbSNP gnomAD v4
17g.42909345G>CCA399654836G6PC1c.489G>C (p.Gln163His)
c.447-1570G>C (n.447-1570G>C)
c.412G>C (p.Ala138Pro)
17g.42909345G=CA2260696643G6PC1c.489G= (p.Gln163=)
c.447-1570G= (n.447-1570G=)
c.412G= (p.Ala138=)
17g.42909345G>TCA399654834G6PC1c.489G>T (p.Gln163His)
c.447-1570G>T (n.447-1570G>T)
c.412G>T (p.Ala138Ser)
17g.42909346C>ACA399654839G6PC1c.490C>A (p.Leu164Met)
c.447-1569C>A (n.447-1569C>A)
c.413C>A (p.Ala138Asp)
17g.42909346C=CA2260696644G6PC1c.490C= (p.Leu164=)
c.447-1569C= (n.447-1569C=)
c.413C= (p.Ala138=)
17g.42909346C>GCA399654841G6PC1c.490C>G (p.Leu164Val)
c.447-1569C>G (n.447-1569C>G)
c.413C>G (p.Ala138Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.42909346C>TCA290788917G6PC1c.490C>T (p.Leu164=)
c.447-1569C>T (n.447-1569C>T)
c.413C>T (p.Ala138Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42909347T>ACA399654844G6PC1c.491T>A (p.Leu164Gln)
c.447-1568T>A (n.447-1568T>A)
c.414T>A (p.Ala138=)
17g.42909347T>CCA399654845G6PC1c.491T>C (p.Leu164Pro)
c.447-1568T>C (n.447-1568T>C)
c.414T>C (p.Ala138=)
17g.42909347T>GCA399654847G6PC1c.491T>G (p.Leu164Arg)
c.447-1568T>G (n.447-1568T>G)
c.414T>G (p.Ala138=)
17g.42909348G>ACA399654849G6PC1c.492G>A (p.Leu164=)
c.447-1567G>A (n.447-1567G>A)
c.415G>A (p.Glu139Lys)
17g.42909348G>CCA399654850G6PC1c.492G>C (p.Leu164=)
c.447-1567G>C (n.447-1567G>C)
c.415G>C (p.Glu139Gln)
17g.42909348G>TCA399654851G6PC1c.492G>T (p.Leu164=)
c.447-1567G>T (n.447-1567G>T)
c.415G>T (p.Glu139Ter)
17g.42909349A>CCA399654853G6PC1c.493A>C (p.Asn165His)
c.447-1566A>C (n.447-1566A>C)
c.416A>C (p.Glu139Ala)
17g.42909349A>GCA399654855G6PC1c.493A>G (p.Asn165Asp)
c.447-1566A>G (n.447-1566A>G)
c.416A>G (p.Glu139Gly)
17g.42909349A>TCA399654856G6PC1c.493A>T (p.Asn165Tyr)
c.447-1566A>T (n.447-1566A>T)
c.416A>T (p.Glu139Val)
17g.42909350A>CCA399654861G6PC1c.494A>C (p.Asn165Thr)
c.447-1565A>C (n.447-1565A>C)
c.417A>C (p.Glu139Asp)
 gnomAD v4
17g.42909350A>GCA399654859G6PC1c.494A>G (p.Asn165Ser)
c.447-1565A>G (n.447-1565A>G)
c.417A>G (p.Glu139=)
17g.42909350A>TCA399654857G6PC1c.494A>T (p.Asn165Ile)
c.447-1565A>T (n.447-1565A>T)
c.417A>T (p.Glu139Asp)
17g.42909351T>ACA399654863G6PC1c.495T>A (p.Asn165Lys)
c.447-1564T>A (n.447-1564T>A)
c.418T>A (p.Cys140Ser)
17g.42909351T>CCA399654864G6PC1c.495T>C (p.Asn165=)
c.447-1564T>C (n.447-1564T>C)
c.418T>C (p.Cys140Arg)
17g.42909351T>GCA399654865G6PC1c.495T>G (p.Asn165Lys)
c.447-1564T>G (n.447-1564T>G)
c.418T>G (p.Cys140Gly)
 gnomAD v4
17g.42909359_42909362dupCA2580613141G6PC1c.503_506dup (p.Arg170ValfsTer?)
c.447-1556_447-1553dup (n.447-1556_447-1553dup)
c.426_429dup (p.Thr144CysfsTer?)
 ClinVar dbSNP
17g.42909359_42909362delCA2638040824G6PC1c.503_506del (p.Leu168HisfsTer?)
c.447-1556_447-1553del (n.447-1556_447-1553del)
c.426_429del (p.Val143ArgfsTer?)
 gnomAD v4
17g.42909352G>ACA399654867G6PC1c.496G>A (p.Val166Ile)
c.447-1563G>A (n.447-1563G>A)
c.419G>A (p.Cys140Tyr)
 gnomAD v4
17g.42909352G>CCA399654869G6PC1c.496G>C (p.Val166Leu)
c.447-1563G>C (n.447-1563G>C)
c.419G>C (p.Cys140Ser)
17g.42909352G=CA2260696645G6PC1c.496G= (p.Val166=)
c.447-1563G= (n.447-1563G=)
c.419G= (p.Cys140=)
17g.42909352G>TCA399654871G6PC1c.496G>T (p.Val166Phe)
c.447-1563G>T (n.447-1563G>T)
c.419G>T (p.Cys140Phe)
 dbSNP gnomAD v3 gnomAD v4
17g.42909353T>ACA399654875G6PC1c.497T>A (p.Val166Asp)
c.447-1562T>A (n.447-1562T>A)
c.420T>A (p.Cys140Ter)
17g.42909353T>CCA399654872G6PC1c.497T>C (p.Val166Ala)
c.447-1562T>C (n.447-1562T>C)
c.420T>C (p.Cys140=)
 ClinVar dbSNP
17g.42909353T>GCA256192G6PC1c.497T>G (p.Val166Gly)
c.447-1562T>G (n.447-1562T>G)
c.420T>G (p.Cys140Trp)
 ClinVar dbSNP
17g.42909353T=CA2260696646G6PC1c.497T= (p.Val166=)
c.447-1562T= (n.447-1562T=)
c.420T= (p.Cys140=)
17g.42909354C>ACA399654876G6PC1c.498C>A (p.Val166=)
c.447-1561C>A (n.447-1561C>A)
c.421C>A (p.Leu141Met)
17g.42909354C=CA2260696647G6PC1c.498C= (p.Val166=)
c.447-1561C= (n.447-1561C=)
c.421C= (p.Leu141=)
17g.42909354C>GCA399654877G6PC1c.498C>G (p.Val166=)
c.447-1561C>G (n.447-1561C>G)
c.421C>G (p.Leu141Val)
17g.42909354C>TCA500103918G6PC1c.498C>T (p.Val166=)
c.447-1561C>T (n.447-1561C>T)
c.421C>T (p.Leu141=)
 dbSNP
17g.42909355T>ACA399654880G6PC1c.499T>A (p.Cys167Ser)
c.447-1560T>A (n.447-1560T>A)
c.422T>A (p.Leu141Gln)
17g.42909355T>CCA399654881G6PC1c.499T>C (p.Cys167Arg)
c.447-1560T>C (n.447-1560T>C)
c.422T>C (p.Leu141Pro)
17g.42909355T>GCA399654883G6PC1c.499T>G (p.Cys167Gly)
c.447-1560T>G (n.447-1560T>G)
c.422T>G (p.Leu141Arg)
17g.42909355dupCA16041844G6PC1c.499dup (p.Cys167LeufsTer?)
c.447-1560dup (n.447-1560dup)
c.422dup (p.Ser142ValfsTer?)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.42909356G>ACA8587595G6PC1c.500G>A (p.Cys167Tyr)
c.447-1559G>A (n.447-1559G>A)
c.423G>A (p.Leu141=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909356G>CCA399654887G6PC1c.500G>C (p.Cys167Ser)
c.447-1559G>C (n.447-1559G>C)
c.423G>C (p.Leu141=)
 dbSNP gnomAD v3 gnomAD v4
17g.42909356G=CA2260696648G6PC1c.500G= (p.Cys167=)
c.447-1559G= (n.447-1559G=)
c.423G= (p.Leu141=)
17g.42909356G>TCA399654885G6PC1c.500G>T (p.Cys167Phe)
c.447-1559G>T (n.447-1559G>T)
c.423G>T (p.Leu141=)
17g.42909357T>ACA399654888G6PC1c.501T>A (p.Cys167Ter)
c.447-1558T>A (n.447-1558T>A)
c.424T>A (p.Ser142Thr)
 gnomAD v4
17g.42909357T>CCA399654890G6PC1c.501T>C (p.Cys167=)
c.447-1558T>C (n.447-1558T>C)
c.424T>C (p.Ser142Pro)
 gnomAD v4
17g.42909357T>GCA399654891G6PC1c.501T>G (p.Cys167Trp)
c.447-1558T>G (n.447-1558T>G)
c.424T>G (p.Ser142Ala)
17g.42909358C>ACA399654893G6PC1c.502C>A (p.Leu168Met)
c.447-1557C>A (n.447-1557C>A)
c.425C>A (p.Ser142Tyr)
17g.42909358C=CA2260696649G6PC1c.502C= (p.Leu168=)
c.447-1557C= (n.447-1557C=)
c.425C= (p.Ser142=)
17g.42909358C>GCA399654895G6PC1c.502C>G (p.Leu168Val)
c.447-1557C>G (n.447-1557C>G)
c.425C>G (p.Ser142Cys)
 gnomAD v4
17g.42909358C>TCA399654896G6PC1c.502C>T (p.Leu168=)
c.447-1557C>T (n.447-1557C>T)
c.425C>T (p.Ser142Phe)
 dbSNP gnomAD v3 gnomAD v4
17g.42909359T>ACA399654898G6PC1c.503T>A (p.Leu168Gln)
c.447-1556T>A (n.447-1556T>A)
c.426T>A (p.Ser142=)
17g.42909359T>CCA399654899G6PC1c.503T>C (p.Leu168Pro)
c.447-1556T>C (n.447-1556T>C)
c.426T>C (p.Ser142=)
17g.42909359T>GCA399654901G6PC1c.503T>G (p.Leu168Arg)
c.447-1556T>G (n.447-1556T>G)
c.426T>G (p.Ser142=)
17g.42909360G>ACA399654902G6PC1c.504G>A (p.Leu168=)
c.447-1555G>A (n.447-1555G>A)
c.427G>A (p.Val143Ile)
17g.42909360G>CCA399654904G6PC1c.504G>C (p.Leu168=)
c.447-1555G>C (n.447-1555G>C)
c.427G>C (p.Val143Leu)
17g.42909360G>TCA399654906G6PC1c.504G>T (p.Leu168=)
c.447-1555G>T (n.447-1555G>T)
c.427G>T (p.Val143Phe)
17g.42909361T>ACA399654910G6PC1c.505T>A (p.Ser169Thr)
c.447-1554T>A (n.447-1554T>A)
c.428T>A (p.Val143Asp)
17g.42909361T>CCA399654908G6PC1c.505T>C (p.Ser169Pro)
c.447-1554T>C (n.447-1554T>C)
c.428T>C (p.Val143Ala)
17g.42909361T>GCA399654907G6PC1c.505T>G (p.Ser169Ala)
c.447-1554T>G (n.447-1554T>G)
c.428T>G (p.Val143Gly)
17g.42909362C>ACA399654912G6PC1c.506C>A (p.Ser169Ter)
c.447-1553C>A (n.447-1553C>A)
c.429C>A (p.Val143=)
17g.42909362C=CA2260696650G6PC1c.506C= (p.Ser169=)
c.447-1553C= (n.447-1553C=)
c.429C= (p.Val143=)
17g.42909362C>GCA399654915G6PC1c.506C>G (p.Ser169Ter)
c.447-1553C>G (n.447-1553C>G)
c.429C>G (p.Val143=)
 ClinVar dbSNP
17g.42909362C>TCA399654914G6PC1c.506C>T (p.Ser169Leu)
c.447-1553C>T (n.447-1553C>T)
c.429C>T (p.Val143=)
17g.42909363A=CA2260696651G6PC1c.507A= (p.Ser169=)
c.447-1552A= (n.447-1552A=)
c.430A= (p.Thr144=)
17g.42909363A>CCA399654916G6PC1c.507A>C (p.Ser169=)
c.447-1552A>C (n.447-1552A>C)
c.430A>C (p.Thr144Pro)
17g.42909363A>GCA399654917G6PC1c.507A>G (p.Ser169=)
c.447-1552A>G (n.447-1552A>G)
c.430A>G (p.Thr144Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.42909363A>TCA399654918G6PC1c.507A>T (p.Ser169=)
c.447-1552A>T (n.447-1552A>T)
c.430A>T (p.Thr144Ser)
17g.42909364C>ACA399654919G6PC1c.508C>A (p.Arg170=)
c.447-1551C>A (n.447-1551C>A)
c.431C>A (p.Thr144Lys)
17g.42909364C=CA2260696652G6PC1c.508C= (p.Arg170=)
c.447-1551C= (n.447-1551C=)
c.431C= (p.Thr144=)
17g.42909364C>GCA399654920G6PC1c.508C>G (p.Arg170Gly)
c.447-1551C>G (n.447-1551C>G)
c.431C>G (p.Thr144Arg)
17g.42909364C>TCA8587596G6PC1c.508C>T (p.Arg170Ter)
c.447-1551C>T (n.447-1551C>T)
c.431C>T (p.Thr144Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42909365G>ACA8587597G6PC1c.509G>A (p.Arg170Gln)
c.447-1550G>A (n.447-1550G>A)
c.432G>A (p.Thr144=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42909365G>CCA399654921G6PC1c.509G>C (p.Arg170Pro)
c.447-1550G>C (n.447-1550G>C)
c.432G>C (p.Thr144=)
17g.42909365G=CA2260696653G6PC1c.509G= (p.Arg170=)
c.447-1550G= (n.447-1550G=)
c.432G= (p.Thr144=)
17g.42909365G>TCA399654922G6PC1c.509G>T (p.Arg170Leu)
c.447-1550G>T (n.447-1550G>T)
c.432G>T (p.Thr144=)
17g.42909365_42909366delinsGACA2260696654G6PC1c.509_510delinsGA (p.Arg170=)
c.447-1550_447-1549delinsGA (n.447-1550_447-1549delinsGA)
c.432_433delinsGA (p.Thr144=)
17g.42909366A>CCA399654923G6PC1c.510A>C (p.Arg170=)
c.447-1549A>C (n.447-1549A>C)
c.433A>C (p.Asn145His)
17g.42909366A>GCA399654924G6PC1c.510A>G (p.Arg170=)
c.447-1549A>G (n.447-1549A>G)
c.433A>G (p.Asn145Asp)
17g.42909366A>TCA399654925G6PC1c.510A>T (p.Arg170=)
c.447-1549A>T (n.447-1549A>T)
c.433A>T (p.Asn145Tyr)
17g.42909367delCA915950017G6PC1c.511del (p.Ile171SerfsTer?)
c.447-1548del (n.447-1548del)
c.434del (p.Asn145IlefsTer?)
 ClinVar dbSNP
17g.42909367A>CCA399654928G6PC1c.511A>C (p.Ile171Leu)
c.447-1548A>C (n.447-1548A>C)
c.434A>C (p.Asn145Thr)
17g.42909367A>GCA399654926G6PC1c.511A>G (p.Ile171Val)
c.447-1548A>G (n.447-1548A>G)
c.434A>G (p.Asn145Ser)
17g.42909367A>TCA399654927G6PC1c.511A>T (p.Ile171Phe)
c.447-1548A>T (n.447-1548A>T)
c.434A>T (p.Asn145Ile)
17g.42909368T>ACA399654929G6PC1c.512T>A (p.Ile171Asn)
c.447-1547T>A (n.447-1547T>A)
c.435T>A (p.Asn145Lys)
 gnomAD v4
17g.42909368T>CCA399654930G6PC1c.512T>C (p.Ile171Thr)
c.447-1547T>C (n.447-1547T>C)
c.435T>C (p.Asn145=)
17g.42909368T>GCA399654931G6PC1c.512T>G (p.Ile171Ser)
c.447-1547T>G (n.447-1547T>G)
c.435T>G (p.Asn145Lys)
17g.42909369C>ACA399654932G6PC1c.513C>A (p.Ile171=)
c.447-1546C>A (n.447-1546C>A)
c.436C>A (p.Leu146Ile)
17g.42909369C=CA2260696655G6PC1c.513C= (p.Ile171=)
c.447-1546C= (n.447-1546C=)
c.436C= (p.Leu146=)
17g.42909369C>GCA399654933G6PC1c.513C>G (p.Ile171Met)
c.447-1546C>G (n.447-1546C>G)
c.436C>G (p.Leu146Val)
 dbSNP gnomAD v2 gnomAD v4
17g.42909369C>TCA500103920G6PC1c.513C>T (p.Ile171=)
c.447-1546C>T (n.447-1546C>T)
c.436C>T (p.Leu146=)
17g.42909370T>ACA399654934G6PC1c.514T>A (p.Tyr172Asn)
c.447-1545T>A (n.447-1545T>A)
c.437T>A (p.Leu146Gln)
17g.42909370T>CCA399654935G6PC1c.514T>C (p.Tyr172His)
c.447-1545T>C (n.447-1545T>C)
c.437T>C (p.Leu146Pro)
17g.42909370T>GCA399654936G6PC1c.514T>G (p.Tyr172Asp)
c.447-1545T>G (n.447-1545T>G)
c.437T>G (p.Leu146Arg)
17g.42909371A>CCA399654937G6PC1c.515A>C (p.Tyr172Ser)
c.447-1544A>C (n.447-1544A>C)
c.438A>C (p.Leu146=)
17g.42909371A>GCA399654938G6PC1c.515A>G (p.Tyr172Cys)
c.447-1544A>G (n.447-1544A>G)
c.438A>G (p.Leu146=)
17g.42909371A>TCA399654939G6PC1c.515A>T (p.Tyr172Phe)
c.447-1544A>T (n.447-1544A>T)
c.438A>T (p.Leu146=)
17g.42909372C>ACA399654942G6PC1c.516C>A (p.Tyr172Ter)
c.447-1543C>A (n.447-1543C>A)
c.439C>A (p.Pro147Thr)
 ClinVar dbSNP
17g.42909372C=CA2260696656G6PC1c.516C= (p.Tyr172=)
c.447-1543C= (n.447-1543C=)
c.439C= (p.Pro147=)
17g.42909372C>GCA399654941G6PC1c.516C>G (p.Tyr172Ter)
c.447-1543C>G (n.447-1543C>G)
c.439C>G (p.Pro147Ala)
17g.42909372C>TCA399654940G6PC1c.516C>T (p.Tyr172=)
c.447-1543C>T (n.447-1543C>T)
c.439C>T (p.Pro147Ser)
17g.42909373C>ACA399654945G6PC1c.517C>A (p.Leu173Ile)
c.447-1542C>A (n.447-1542C>A)
c.440C>A (p.Pro147His)
17g.42909373C=CA2260696657G6PC1c.517C= (p.Leu173=)
c.447-1542C= (n.447-1542C=)
c.440C= (p.Pro147=)
17g.42909373C>GCA399654943G6PC1c.517C>G (p.Leu173Val)
c.447-1542C>G (n.447-1542C>G)
c.440C>G (p.Pro147Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.42909373C>TCA399654944G6PC1c.517C>T (p.Leu173Phe)
c.447-1542C>T (n.447-1542C>T)
c.440C>T (p.Pro147Leu)
17g.42909374T>ACA399654946G6PC1c.518T>A (p.Leu173His)
c.447-1541T>A (n.447-1541T>A)
c.441T>A (p.Pro147=)
17g.42909374T>CCA8587598G6PC1c.518T>C (p.Leu173Pro)
c.447-1541T>C (n.447-1541T>C)
c.441T>C (p.Pro147=)
 ClinVar dbSNP ExAC gnomAD v2
17g.42909374T>GCA399654947G6PC1c.518T>G (p.Leu173Arg)
c.447-1541T>G (n.447-1541T>G)
c.441T>G (p.Pro147=)
17g.42909374T=CA2260696658G6PC1c.518T= (p.Leu173=)
c.447-1541T= (n.447-1541T=)
c.441T= (p.Pro147=)

Number of alleles fetched