Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
17g.42909375T>ACA399654950G6PC1c.519T>A (p.Leu173=)
c.447-1540T>A (n.447-1540T>A)
c.442T>A (p.Cys148Ser)
17g.42909375T>CCA399654949G6PC1c.519T>C (p.Leu173=)
c.447-1540T>C (n.447-1540T>C)
c.442T>C (p.Cys148Arg)
17g.42909375T>GCA399654948G6PC1c.519T>G (p.Leu173=)
c.447-1540T>G (n.447-1540T>G)
c.442T>G (p.Cys148Gly)
17g.42909376G>ACA399654951G6PC1c.520G>A (p.Ala174Thr)
c.447-1539G>A (n.447-1539G>A)
c.443G>A (p.Cys148Tyr)
17g.42909376G>CCA399654952G6PC1c.520G>C (p.Ala174Pro)
c.447-1539G>C (n.447-1539G>C)
c.443G>C (p.Cys148Ser)
17g.42909376G>TCA399654953G6PC1c.520G>T (p.Ala174Ser)
c.447-1539G>T (n.447-1539G>T)
c.443G>T (p.Cys148Phe)
17g.42909377C>ACA399654954G6PC1c.521C>A (p.Ala174Asp)
c.447-1538C>A (n.447-1538C>A)
c.444C>A (p.Cys148Ter)
17g.42909377C>GCA399654955G6PC1c.521C>G (p.Ala174Gly)
c.447-1538C>G (n.447-1538C>G)
c.444C>G (p.Cys148Trp)
17g.42909377C>TCA399654956G6PC1c.521C>T (p.Ala174Val)
c.447-1538C>T (n.447-1538C>T)
c.444C>T (p.Cys148=)
 gnomAD v4
17g.42909378T>ACA399654957G6PC1c.522T>A (p.Ala174=)
c.447-1537T>A (n.447-1537T>A)
c.445T>A (p.Cys149Ser)
17g.42909378T>CCA399654959G6PC1c.522T>C (p.Ala174=)
c.447-1537T>C (n.447-1537T>C)
c.445T>C (p.Cys149Arg)
17g.42909378T>GCA399654958G6PC1c.522T>G (p.Ala174=)
c.447-1537T>G (n.447-1537T>G)
c.445T>G (p.Cys149Gly)
 gnomAD v4
17g.42909379G>ACA399654960G6PC1c.523G>A (p.Ala175Thr)
c.447-1536G>A (n.447-1536G>A)
c.446G>A (p.Cys149Tyr)
17g.42909379G>CCA399654961G6PC1c.523G>C (p.Ala175Pro)
c.447-1536G>C (n.447-1536G>C)
c.446G>C (p.Cys149Ser)
17g.42909379G>TCA399654962G6PC1c.523G>T (p.Ala175Ser)
c.447-1536G>T (n.447-1536G>T)
c.446G>T (p.Cys149Phe)
17g.42909380C>ACA399654963G6PC1c.524C>A (p.Ala175Asp)
c.447-1535C>A (n.447-1535C>A)
c.447C>A (p.Cys149Ter)
17g.42909380C>GCA399654964G6PC1c.524C>G (p.Ala175Gly)
c.447-1535C>G (n.447-1535C>G)
c.447C>G (p.Cys149Trp)
17g.42909380C>TCA399654965G6PC1c.524C>T (p.Ala175Val)
c.447-1535C>T (n.447-1535C>T)
c.447C>T (p.Cys149=)
17g.42909381T>ACA399654966G6PC1c.525T>A (p.Ala175=)
c.447-1534T>A (n.447-1534T>A)
c.448T>A (p.Ser150Thr)
17g.42909381T>CCA399654967G6PC1c.525T>C (p.Ala175=)
c.447-1534T>C (n.447-1534T>C)
c.448T>C (p.Ser150Pro)
 dbSNP
17g.42909381T>GCA399654968G6PC1c.525T>G (p.Ala175=)
c.447-1534T>G (n.447-1534T>G)
c.448T>G (p.Ser150Ala)
17g.42909382C>ACA399654969G6PC1c.526C>A (p.His176Asn)
c.447-1533C>A (n.447-1533C>A)
c.449C>A (p.Ser150Ter)
17g.42909382C=CA2260696659G6PC1c.526C= (p.His176=)
c.447-1533C= (n.447-1533C=)
c.449C= (p.Ser150=)
17g.42909382C>GCA399654970G6PC1c.526C>G (p.His176Asp)
c.447-1533C>G (n.447-1533C>G)
c.449C>G (p.Ser150Ter)
17g.42909382C>TCA399654971G6PC1c.526C>T (p.His176Tyr)
c.447-1533C>T (n.447-1533C>T)
c.449C>T (p.Ser150Leu)
 ClinVar dbSNP
17g.42909383A>CCA399654974G6PC1c.527A>C (p.His176Pro)
c.447-1532A>C (n.447-1532A>C)
c.450A>C (p.Ser150=)
17g.42909383A>GCA399654973G6PC1c.527A>G (p.His176Arg)
c.447-1532A>G (n.447-1532A>G)
c.450A>G (p.Ser150=)
17g.42909383A>TCA399654972G6PC1c.527A>T (p.His176Leu)
c.447-1532A>T (n.447-1532A>T)
c.450A>T (p.Ser150=)
 dbSNP
17g.42909384T>ACA399654975G6PC1c.528T>A (p.His176Gln)
c.447-1531T>A (n.447-1531T>A)
c.451T>A (p.Phe151Ile)
17g.42909384T>CCA399654976G6PC1c.528T>C (p.His176=)
c.447-1531T>C (n.447-1531T>C)
c.451T>C (p.Phe151Leu)
 gnomAD v4
17g.42909384T>GCA399654977G6PC1c.528T>G (p.His176Gln)
c.447-1531T>G (n.447-1531T>G)
c.451T>G (p.Phe151Val)
17g.42909385T>ACA399654978G6PC1c.529T>A (p.Phe177Ile)
c.447-1530T>A (n.447-1530T>A)
c.452T>A (p.Phe151Tyr)
 dbSNP
17g.42909385T>CCA399654979G6PC1c.529T>C (p.Phe177Leu)
c.447-1530T>C (n.447-1530T>C)
c.452T>C (p.Phe151Ser)
17g.42909385T>GCA399654980G6PC1c.529T>G (p.Phe177Val)
c.447-1530T>G (n.447-1530T>G)
c.452T>G (p.Phe151Cys)
17g.42909386T>ACA399654983G6PC1c.530T>A (p.Phe177Tyr)
c.447-1529T>A (n.447-1529T>A)
c.453T>A (p.Phe151Leu)
 dbSNP
17g.42909386T>CCA399654982G6PC1c.530T>C (p.Phe177Ser)
c.447-1529T>C (n.447-1529T>C)
c.453T>C (p.Phe151=)
 dbSNP gnomAD v2 gnomAD v4
17g.42909386T>GCA399654981G6PC1c.530T>G (p.Phe177Cys)
c.447-1529T>G (n.447-1529T>G)
c.453T>G (p.Phe151Leu)
17g.42909386T=CA2260696660G6PC1c.530T= (p.Phe177=)
c.447-1529T= (n.447-1529T=)
c.453T= (p.Phe151=)
17g.42909387T>ACA399654984G6PC1c.531T>A (p.Phe177Leu)
c.447-1528T>A (n.447-1528T>A)
c.454T>A (p.Ser152Thr)
 dbSNP
17g.42909387T>CCA399654985G6PC1c.531T>C (p.Phe177=)
c.447-1528T>C (n.447-1528T>C)
c.454T>C (p.Ser152Pro)
17g.42909387T>GCA399654986G6PC1c.531T>G (p.Phe177Leu)
c.447-1528T>G (n.447-1528T>G)
c.454T>G (p.Ser152Ala)
17g.42909388C>ACA399654987G6PC1c.532C>A (p.Pro178Thr)
c.447-1527C>A (n.447-1527C>A)
c.455C>A (p.Ser152Tyr)
17g.42909388C=CA2260696661G6PC1c.532C= (p.Pro178=)
c.447-1527C= (n.447-1527C=)
c.455C= (p.Ser152=)
17g.42909388C>GCA8587599G6PC1c.532C>G (p.Pro178Ala)
c.447-1527C>G (n.447-1527C>G)
c.455C>G (p.Ser152Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909388C>TCA399654988G6PC1c.532C>T (p.Pro178Ser)
c.447-1527C>T (n.447-1527C>T)
c.455C>T (p.Ser152Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42909389C>ACA399654989G6PC1c.533C>A (p.Pro178His)
c.447-1526C>A (n.447-1526C>A)
c.456C>A (p.Ser152=)
17g.42909389C=CA2260696662G6PC1c.533C= (p.Pro178=)
c.447-1526C= (n.447-1526C=)
c.456C= (p.Ser152=)
17g.42909389C>GCA399654990G6PC1c.533C>G (p.Pro178Arg)
c.447-1526C>G (n.447-1526C>G)
c.456C>G (p.Ser152=)
17g.42909389C>TCA8587600G6PC1c.533C>T (p.Pro178Leu)
c.447-1526C>T (n.447-1526C>T)
c.456C>T (p.Ser152=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909390T>ACA8587602G6PC1c.534T>A (p.Pro178=)
c.447-1525T>A (n.447-1525T>A)
c.457T>A (p.Ser153Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909390T>CCA8587601G6PC1c.534T>C (p.Pro178=)
c.447-1525T>C (n.447-1525T>C)
c.457T>C (p.Ser153Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909390T>GCA399654991G6PC1c.534T>G (p.Pro178=)
c.447-1525T>G (n.447-1525T>G)
c.457T>G (p.Ser153Ala)
17g.42909390T=CA2260696663G6PC1c.534T= (p.Pro178=)
c.447-1525T= (n.447-1525T=)
c.457T= (p.Ser153=)
17g.42909391C>ACA399654992G6PC1c.535C>A (p.His179Asn)
c.447-1524C>A (n.447-1524C>A)
c.458C>A (p.Ser153Ter)
17g.42909391C>GCA399654993G6PC1c.535C>G (p.His179Asp)
c.447-1524C>G (n.447-1524C>G)
c.458C>G (p.Ser153Ter)
 dbSNP
17g.42909391C>TCA399654994G6PC1c.535C>T (p.His179Tyr)
c.447-1524C>T (n.447-1524C>T)
c.458C>T (p.Ser153Leu)
 gnomAD v4
17g.42909392A>CCA399654995G6PC1c.536A>C (p.His179Pro)
c.447-1523A>C (n.447-1523A>C)
c.459A>C (p.Ser153=)
 dbSNP
17g.42909392A>GCA399654996G6PC1c.536A>G (p.His179Arg)
c.447-1523A>G (n.447-1523A>G)
c.459A>G (p.Ser153=)
17g.42909392A>TCA399654997G6PC1c.536A>T (p.His179Leu)
c.447-1523A>T (n.447-1523A>T)
c.459A>T (p.Ser153=)
17g.42909393delCA2695226078G6PC1c.537del (p.Gln180LysfsTer?)
c.447-1522del (n.447-1522del)
c.460del (p.Ser154GlnfsTer?)
17g.42909393T>ACA399654998G6PC1c.537T>A (p.His179Gln)
c.447-1522T>A (n.447-1522T>A)
c.460T>A (p.Ser154Thr)
 gnomAD v4
17g.42909393T>CCA399654999G6PC1c.537T>C (p.His179=)
c.447-1522T>C (n.447-1522T>C)
c.460T>C (p.Ser154Pro)
17g.42909393T>GCA399655000G6PC1c.537T>G (p.His179Gln)
c.447-1522T>G (n.447-1522T>G)
c.460T>G (p.Ser154Ala)
17g.42909394C>ACA399655001G6PC1c.538C>A (p.Gln180Lys)
c.447-1521C>A (n.447-1521C>A)
c.461C>A (p.Ser154Ter)
17g.42909394C=CA2260696664G6PC1c.538C= (p.Gln180=)
c.447-1521C= (n.447-1521C=)
c.461C= (p.Ser154=)
17g.42909394C>GCA399655003G6PC1c.538C>G (p.Gln180Glu)
c.447-1521C>G (n.447-1521C>G)
c.461C>G (p.Ser154Ter)
17g.42909394C>TCA399655002G6PC1c.538C>T (p.Gln180Ter)
c.447-1521C>T (n.447-1521C>T)
c.461C>T (p.Ser154Leu)
 ClinVar dbSNP
17g.42909395A=CA2260696665G6PC1c.539A= (p.Gln180=)
c.447-1520A= (n.447-1520A=)
c.462A= (p.Ser154=)
17g.42909395A>CCA399655004G6PC1c.539A>C (p.Gln180Pro)
c.447-1520A>C (n.447-1520A>C)
c.462A>C (p.Ser154=)
17g.42909395A>GCA290788967G6PC1c.539A>G (p.Gln180Arg)
c.447-1520A>G (n.447-1520A>G)
c.462A>G (p.Ser154=)
 dbSNP
17g.42909395A>TCA399655005G6PC1c.539A>T (p.Gln180Leu)
c.447-1520A>T (n.447-1520A>T)
c.462A>T (p.Ser154=)
17g.42909396A=CA2260696666G6PC1c.540A= (p.Gln180=)
c.447-1519A= (n.447-1519A=)
c.463A= (p.Ser155=)
17g.42909396A>CCA399655006G6PC1c.540A>C (p.Gln180His)
c.447-1519A>C (n.447-1519A>C)
c.463A>C (p.Ser155Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.42909396A>GCA399655007G6PC1c.540A>G (p.Gln180=)
c.447-1519A>G (n.447-1519A>G)
c.463A>G (p.Ser155Gly)
17g.42909396A>TCA399655008G6PC1c.540A>T (p.Gln180His)
c.447-1519A>T (n.447-1519A>T)
c.463A>T (p.Ser155Cys)
17g.42909397G>ACA399655009G6PC1c.541G>A (p.Val181Ile)
c.447-1518G>A (n.447-1518G>A)
c.464G>A (p.Ser155Asn)
17g.42909397G>CCA399655010G6PC1c.541G>C (p.Val181Leu)
c.447-1518G>C (n.447-1518G>C)
c.464G>C (p.Ser155Thr)
17g.42909397G>TCA399655011G6PC1c.541G>T (p.Val181Phe)
c.447-1518G>T (n.447-1518G>T)
c.464G>T (p.Ser155Ile)
17g.42909398T>ACA399655012G6PC1c.542T>A (p.Val181Asp)
c.447-1517T>A (n.447-1517T>A)
c.465T>A (p.Ser155Arg)
17g.42909398T>CCA399655013G6PC1c.542T>C (p.Val181Ala)
c.447-1517T>C (n.447-1517T>C)
c.465T>C (p.Ser155=)
17g.42909398T>GCA399655014G6PC1c.542T>G (p.Val181Gly)
c.447-1517T>G (n.447-1517T>G)
c.465T>G (p.Ser155Arg)
17g.42909399T>ACA399655017G6PC1c.543T>A (p.Val181=)
c.447-1516T>A (n.447-1516T>A)
c.466T>A (p.Cys156Ser)
17g.42909399T>CCA399655016G6PC1c.543T>C (p.Val181=)
c.447-1516T>C (n.447-1516T>C)
c.466T>C (p.Cys156Arg)
17g.42909399T>GCA399655015G6PC1c.543T>G (p.Val181=)
c.447-1516T>G (n.447-1516T>G)
c.466T>G (p.Cys156Gly)
17g.42909400G>ACA399655018G6PC1c.544G>A (p.Val182Ile)
c.447-1515G>A (n.447-1515G>A)
c.467G>A (p.Cys156Tyr)
17g.42909400G>CCA399655019G6PC1c.544G>C (p.Val182Leu)
c.447-1515G>C (n.447-1515G>C)
c.467G>C (p.Cys156Ser)
17g.42909400G>TCA399655020G6PC1c.544G>T (p.Val182Phe)
c.447-1515G>T (n.447-1515G>T)
c.467G>T (p.Cys156Phe)
17g.42909401T>ACA399655021G6PC1c.545T>A (p.Val182Asp)
c.447-1514T>A (n.447-1514T>A)
c.468T>A (p.Cys156Ter)
17g.42909401T>CCA399655022G6PC1c.545T>C (p.Val182Ala)
c.447-1514T>C (n.447-1514T>C)
c.468T>C (p.Cys156=)
17g.42909401T>GCA399655023G6PC1c.545T>G (p.Val182Gly)
c.447-1514T>G (n.447-1514T>G)
c.468T>G (p.Cys156Trp)
17g.42909402T>ACA399655024G6PC1c.546T>A (p.Val182=)
c.447-1513T>A (n.447-1513T>A)
c.469T>A (p.Cys157Ser)
17g.42909402T>CCA399655025G6PC1c.546T>C (p.Val182=)
c.447-1513T>C (n.447-1513T>C)
c.469T>C (p.Cys157Arg)
 gnomAD v4
17g.42909402T>GCA399655026G6PC1c.546T>G (p.Val182=)
c.447-1513T>G (n.447-1513T>G)
c.469T>G (p.Cys157Gly)
17g.42909403G>ACA8587603G6PC1c.547G>A (p.Ala183Thr)
c.447-1512G>A (n.447-1512G>A)
c.470G>A (p.Cys157Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909403G>CCA399655027G6PC1c.547G>C (p.Ala183Pro)
c.447-1512G>C (n.447-1512G>C)
c.470G>C (p.Cys157Ser)
17g.42909403G=CA2260696667G6PC1c.547G= (p.Ala183=)
c.447-1512G= (n.447-1512G=)
c.470G= (p.Cys157=)
17g.42909403G>TCA399655028G6PC1c.547G>T (p.Ala183Ser)
c.447-1512G>T (n.447-1512G>T)
c.470G>T (p.Cys157Phe)
17g.42909404delCA2638040825G6PC1c.548del (p.Ala183ValfsTer?)
c.447-1511del (n.447-1511del)
c.471del (p.Trp158GlyfsTer?)
 gnomAD v4
17g.42909404C>ACA399655029G6PC1c.548C>A (p.Ala183Asp)
c.447-1511C>A (n.447-1511C>A)
c.471C>A (p.Cys157Ter)
17g.42909404C>GCA399655031G6PC1c.548C>G (p.Ala183Gly)
c.447-1511C>G (n.447-1511C>G)
c.471C>G (p.Cys157Trp)
 gnomAD v4
17g.42909404C>TCA399655030G6PC1c.548C>T (p.Ala183Val)
c.447-1511C>T (n.447-1511C>T)
c.471C>T (p.Cys157=)
17g.42909405T>ACA399655032G6PC1c.549T>A (p.Ala183=)
c.447-1510T>A (n.447-1510T>A)
c.472T>A (p.Trp158Arg)
17g.42909405T>CCA8587604G6PC1c.549T>C (p.Ala183=)
c.447-1510T>C (n.447-1510T>C)
c.472T>C (p.Trp158Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42909405T>GCA8587605G6PC1c.549T>G (p.Ala183=)
c.447-1510T>G (n.447-1510T>G)
c.472T>G (p.Trp158Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42909405T=CA2260696668G6PC1c.549T= (p.Ala183=)
c.447-1510T= (n.447-1510T=)
c.472T= (p.Trp158=)
17g.42909405dupCA2573154244G6PC1c.549dup (p.Gly184TrpfsTer20)
c.447-1510dup (n.447-1510dup)
c.472dup (p.Trp158LeufsTer?)
 ClinVar dbSNP
17g.42909406G>ACA399655033G6PC1c.550G>A (p.Gly184Arg)
c.447-1509G>A (n.447-1509G>A)
c.473G>A (p.Trp158Ter)
17g.42909406G>CCA399655035G6PC1c.550G>C (p.Gly184Arg)
c.447-1509G>C (n.447-1509G>C)
c.473G>C (p.Trp158Ser)
17g.42909406G=CA2260696669G6PC1c.550G= (p.Gly184=)
c.447-1509G= (n.447-1509G=)
c.473G= (p.Trp158=)
17g.42909406G>TCA399655034G6PC1c.550G>T (p.Gly184Ter)
c.447-1509G>T (n.447-1509G>T)
c.473G>T (p.Trp158Leu)
 ClinVar dbSNP
17g.42909407G>ACA256188G6PC1c.551G>A (p.Gly184Glu)
c.447-1508G>A (n.447-1508G>A)
c.474G>A (p.Trp158Ter)
 ClinVar dbSNP
17g.42909407G>CCA399655036G6PC1c.551G>C (p.Gly184Ala)
c.447-1508G>C (n.447-1508G>C)
c.474G>C (p.Trp158Cys)
17g.42909407G=CA2260696670G6PC1c.551G= (p.Gly184=)
c.447-1508G= (n.447-1508G=)
c.474G= (p.Trp158=)
17g.42909407G>TCA16043527G6PC1c.551G>T (p.Gly184Val)
c.447-1508G>T (n.447-1508G>T)
c.474G>T (p.Trp158Cys)
 ClinVar dbSNP
17g.42909408A>CCA399655037G6PC1c.552A>C (p.Gly184=)
c.447-1507A>C (n.447-1507A>C)
c.475A>C (p.Ser159Arg)
17g.42909408A>GCA399655038G6PC1c.552A>G (p.Gly184=)
c.447-1507A>G (n.447-1507A>G)
c.475A>G (p.Ser159Gly)
17g.42909408A>TCA399655039G6PC1c.552A>T (p.Gly184=)
c.447-1507A>T (n.447-1507A>T)
c.475A>T (p.Ser159Cys)
17g.42909409G>ACA8587606G6PC1c.553G>A (p.Val185Ile)
c.447-1506G>A (n.447-1506G>A)
c.476G>A (p.Ser159Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42909409G>CCA399655040G6PC1c.553G>C (p.Val185Leu)
c.447-1506G>C (n.447-1506G>C)
c.476G>C (p.Ser159Thr)
17g.42909409G=CA2260696671G6PC1c.553G= (p.Val185=)
c.447-1506G= (n.447-1506G=)
c.476G= (p.Ser159=)
17g.42909409G>TCA399655041G6PC1c.553G>T (p.Val185Phe)
c.447-1506G>T (n.447-1506G>T)
c.476G>T (p.Ser159Ile)
17g.42909410T>ACA399655042G6PC1c.554T>A (p.Val185Asp)
c.447-1505T>A (n.447-1505T>A)
c.477T>A (p.Ser159Arg)
17g.42909410T>CCA399655043G6PC1c.554T>C (p.Val185Ala)
c.447-1505T>C (n.447-1505T>C)
c.477T>C (p.Ser159=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42909410T>GCA399655044G6PC1c.554T>G (p.Val185Gly)
c.447-1505T>G (n.447-1505T>G)
c.477T>G (p.Ser159Arg)
17g.42909410T=CA2260696672G6PC1c.554T= (p.Val185=)
c.447-1505T= (n.447-1505T=)
c.477T= (p.Ser159=)
17g.42909411C>ACA399655045G6PC1c.555C>A (p.Val185=)
c.447-1504C>A (n.447-1504C>A)
c.478C>A (p.Pro160Thr)
17g.42909411C>GCA399655046G6PC1c.555C>G (p.Val185=)
c.447-1504C>G (n.447-1504C>G)
c.478C>G (p.Pro160Ala)
17g.42909411C>TCA399655047G6PC1c.555C>T (p.Val185=)
c.447-1504C>T (n.447-1504C>T)
c.478C>T (p.Pro160Ser)
17g.42909412C>ACA399655048G6PC1c.556C>A (p.Leu186Met)
c.447-1503C>A (n.447-1503C>A)
c.479C>A (p.Pro160His)
17g.42909412C>GCA399655050G6PC1c.556C>G (p.Leu186Val)
c.447-1503C>G (n.447-1503C>G)
c.479C>G (p.Pro160Arg)
17g.42909412C>TCA399655049G6PC1c.556C>T (p.Leu186=)
c.447-1503C>T (n.447-1503C>T)
c.479C>T (p.Pro160Leu)
 COSMIC
17g.42909413T>ACA399655051G6PC1c.557T>A (p.Leu186Gln)
c.447-1502T>A (n.447-1502T>A)
c.480T>A (p.Pro160=)
17g.42909413T>CCA399655052G6PC1c.557T>C (p.Leu186Pro)
c.447-1502T>C (n.447-1502T>C)
c.480T>C (p.Pro160=)
17g.42909413T>GCA399655053G6PC1c.557T>G (p.Leu186Arg)
c.447-1502T>G (n.447-1502T>G)
c.480T>G (p.Pro160=)
17g.42909414_42909415delCA2576280994G6PC1c.558_559del (p.Ser187ArgfsTer16)
c.447-1501_447-1500del (n.447-1501_447-1500del)
c.481_482del (p.Val161GlnfsTer?)
17g.42909414G>ACA8587608G6PC1c.558G>A (p.Leu186=)
c.447-1501G>A (n.447-1501G>A)
c.481G>A (p.Val161Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909414G>CCA399655054G6PC1c.558G>C (p.Leu186=)
c.447-1501G>C (n.447-1501G>C)
c.481G>C (p.Val161Leu)
17g.42909414G=CA2260696673G6PC1c.558G= (p.Leu186=)
c.447-1501G= (n.447-1501G=)
c.481G= (p.Val161=)
17g.42909414G>TCA8587607G6PC1c.558G>T (p.Leu186=)
c.447-1501G>T (n.447-1501G>T)
c.481G>T (p.Val161Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched