Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36246248A=CA1846320811CLTA,GNEc.492T= (p.Ile164=)
c.222T= (p.Ile74=)
c.399T= (p.Ile133=)
c.486-16950A= (n.486-16950A=)
c.384T= (p.Ile128=)
9g.36246248A>CCA373418967CLTA,GNEc.492T>G (p.Ile164Met)
c.222T>G (p.Ile74Met)
c.399T>G (p.Ile133Met)
c.486-16950A>C (n.486-16950A>C)
c.384T>G (p.Ile128Met)
9g.36246248A>GCA464620061CLTA,GNEc.492T>C (p.Ile164=)
c.222T>C (p.Ile74=)
c.399T>C (p.Ile133=)
c.486-16950A>G (n.486-16950A>G)
c.384T>C (p.Ile128=)
9g.36246248A>TCA464620062CLTA,GNEc.492T>A (p.Ile164=)
c.222T>A (p.Ile74=)
c.399T>A (p.Ile133=)
c.486-16950A>T (n.486-16950A>T)
c.384T>A (p.Ile128=)
9g.36246249A=CA1846320830CLTA,GNEc.491T= (p.Ile164=)
c.221T= (p.Ile74=)
c.398T= (p.Ile133=)
c.486-16949A= (n.486-16949A=)
c.383T= (p.Ile128=)
9g.36246249A>CCA373418971CLTA,GNEc.491T>G (p.Ile164Ser)
c.221T>G (p.Ile74Ser)
c.398T>G (p.Ile133Ser)
c.486-16949A>C (n.486-16949A>C)
c.383T>G (p.Ile128Ser)
9g.36246249A>GCA5056731CLTA,GNEc.491T>C (p.Ile164Thr)
c.221T>C (p.Ile74Thr)
c.398T>C (p.Ile133Thr)
c.486-16949A>G (n.486-16949A>G)
c.383T>C (p.Ile128Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246249A>TCA373418976CLTA,GNEc.491T>A (p.Ile164Asn)
c.221T>A (p.Ile74Asn)
c.398T>A (p.Ile133Asn)
c.486-16949A>T (n.486-16949A>T)
c.383T>A (p.Ile128Asn)
9g.36246249_36246250dupCA1139660956CLTA,GNEc.490_491dup (p.Glu165LeufsTer18)
c.220_221dup (p.Glu75LeufsTer18)
c.397_398dup (p.Glu134LeufsTer18)
c.486-16949_486-16948dup (n.486-16949_486-16948dup)
c.382_383dup (p.Glu129LeufsTer18)
 ClinVar dbSNP
9g.36246250T>ACA373418989CLTA,GNEc.490A>T (p.Ile164Phe)
c.220A>T (p.Ile74Phe)
c.397A>T (p.Ile133Phe)
c.486-16948T>A (n.486-16948T>A)
c.382A>T (p.Ile128Phe)
9g.36246250T>CCA373418980CLTA,GNEc.490A>G (p.Ile164Val)
c.220A>G (p.Ile74Val)
c.397A>G (p.Ile133Val)
c.486-16948T>C (n.486-16948T>C)
c.382A>G (p.Ile128Val)
9g.36246250T>GCA373418985CLTA,GNEc.490A>C (p.Ile164Leu)
c.220A>C (p.Ile74Leu)
c.397A>C (p.Ile133Leu)
c.486-16948T>G (n.486-16948T>G)
c.382A>C (p.Ile128Leu)
9g.36246251G>ACA464620067CLTA,GNEc.489C>T (p.His163=)
c.219C>T (p.His73=)
c.396C>T (p.His132=)
c.486-16947G>A (n.486-16947G>A)
c.381C>T (p.His127=)
 dbSNP
9g.36246251G>CCA373418993CLTA,GNEc.489C>G (p.His163Gln)
c.219C>G (p.His73Gln)
c.396C>G (p.His132Gln)
c.486-16947G>C (n.486-16947G>C)
c.381C>G (p.His127Gln)
9g.36246251G=CA1846320835CLTA,GNEc.489C= (p.His163=)
c.219C= (p.His73=)
c.396C= (p.His132=)
c.486-16947G= (n.486-16947G=)
c.381C= (p.His127=)
9g.36246251G>TCA373418995CLTA,GNEc.489C>A (p.His163Gln)
c.219C>A (p.His73Gln)
c.396C>A (p.His132Gln)
c.486-16947G>T (n.486-16947G>T)
c.381C>A (p.His127Gln)
 gnomAD v4
9g.36246252T>ACA373419000CLTA,GNEc.488A>T (p.His163Leu)
c.218A>T (p.His73Leu)
c.395A>T (p.His132Leu)
c.486-16946T>A (n.486-16946T>A)
c.380A>T (p.His127Leu)
 gnomAD v4
9g.36246252T>CCA373419005CLTA,GNEc.488A>G (p.His163Arg)
c.218A>G (p.His73Arg)
c.395A>G (p.His132Arg)
c.486-16946T>C (n.486-16946T>C)
c.380A>G (p.His127Arg)
9g.36246252T>GCA373419008CLTA,GNEc.488A>C (p.His163Pro)
c.218A>C (p.His73Pro)
c.395A>C (p.His132Pro)
c.486-16946T>G (n.486-16946T>G)
c.380A>C (p.His127Pro)
9g.36246253G>ACA373419018CLTA,GNEc.487C>T (p.His163Tyr)
c.217C>T (p.His73Tyr)
c.394C>T (p.His132Tyr)
c.486-16945G>A (n.486-16945G>A)
c.379C>T (p.His127Tyr)
 COSMIC COSMIC COSMIC
9g.36246253G>CCA373419012CLTA,GNEc.487C>G (p.His163Asp)
c.217C>G (p.His73Asp)
c.394C>G (p.His132Asp)
c.486-16945G>C (n.486-16945G>C)
c.379C>G (p.His127Asp)
9g.36246253G>TCA373419015CLTA,GNEc.487C>A (p.His163Asn)
c.217C>A (p.His73Asn)
c.394C>A (p.His132Asn)
c.486-16945G>T (n.486-16945G>T)
c.379C>A (p.His127Asn)
9g.36246254A>CCA464620069CLTA,GNEc.486T>G (p.Leu162=)
c.216T>G (p.Leu72=)
c.393T>G (p.Leu131=)
c.486-16944A>C (n.486-16944A>C)
c.378T>G (p.Leu126=)
9g.36246254A>GCA464620070CLTA,GNEc.486T>C (p.Leu162=)
c.216T>C (p.Leu72=)
c.393T>C (p.Leu131=)
c.486-16944A>G (n.486-16944A>G)
c.378T>C (p.Leu126=)
9g.36246254A>TCA464620072CLTA,GNEc.486T>A (p.Leu162=)
c.216T>A (p.Leu72=)
c.393T>A (p.Leu131=)
c.486-16944A>T (n.486-16944A>T)
c.378T>A (p.Leu126=)
 gnomAD v4
9g.36246255A>CCA373419025CLTA,GNEc.485T>G (p.Leu162Arg)
c.215T>G (p.Leu72Arg)
c.392T>G (p.Leu131Arg)
c.486-16943A>C (n.486-16943A>C)
c.377T>G (p.Leu126Arg)
9g.36246255A>GCA373419033CLTA,GNEc.485T>C (p.Leu162Pro)
c.215T>C (p.Leu72Pro)
c.392T>C (p.Leu131Pro)
c.486-16943A>G (n.486-16943A>G)
c.377T>C (p.Leu126Pro)
 ClinVar gnomAD v4
9g.36246255A>TCA373419036CLTA,GNEc.485T>A (p.Leu162His)
c.215T>A (p.Leu72His)
c.392T>A (p.Leu131His)
c.486-16943A>T (n.486-16943A>T)
c.377T>A (p.Leu126His)
9g.36246256G>ACA373419039CLTA,GNEc.484C>T (p.Leu162Phe)
c.214C>T (p.Leu72Phe)
c.391C>T (p.Leu131Phe)
c.486-16942G>A (n.486-16942G>A)
c.376C>T (p.Leu126Phe)
9g.36246256G>CCA373419042CLTA,GNEc.484C>G (p.Leu162Val)
c.214C>G (p.Leu72Val)
c.391C>G (p.Leu131Val)
c.486-16942G>C (n.486-16942G>C)
c.376C>G (p.Leu126Val)
 dbSNP gnomAD v4
9g.36246256G=CA1846320841CLTA,GNEc.484C= (p.Leu162=)
c.214C= (p.Leu72=)
c.391C= (p.Leu131=)
c.486-16942G= (n.486-16942G=)
c.376C= (p.Leu126=)
9g.36246256G>TCA373419046CLTA,GNEc.484C>A (p.Leu162Ile)
c.214C>A (p.Leu72Ile)
c.391C>A (p.Leu131Ile)
c.486-16942G>T (n.486-16942G>T)
c.376C>A (p.Leu126Ile)
9g.36246257G>ACA464619709CLTA,GNEc.483C>T (p.Ile161=)
c.213C>T (p.Ile71=)
c.390C>T (p.Ile130=)
c.486-16941G>A (n.486-16941G>A)
c.375C>T (p.Ile125=)
9g.36246257G>CCA373419048CLTA,GNEc.483C>G (p.Ile161Met)
c.213C>G (p.Ile71Met)
c.390C>G (p.Ile130Met)
c.486-16941G>C (n.486-16941G>C)
c.375C>G (p.Ile125Met)
 gnomAD v4
9g.36246257G>TCA464619710CLTA,GNEc.483C>A (p.Ile161=)
c.213C>A (p.Ile71=)
c.390C>A (p.Ile130=)
c.486-16941G>T (n.486-16941G>T)
c.375C>A (p.Ile125=)
9g.36246258A>CCA373419052CLTA,GNEc.482T>G (p.Ile161Ser)
c.212T>G (p.Ile71Ser)
c.389T>G (p.Ile130Ser)
c.486-16940A>C (n.486-16940A>C)
c.374T>G (p.Ile125Ser)
9g.36246258A>GCA373419061CLTA,GNEc.482T>C (p.Ile161Thr)
c.212T>C (p.Ile71Thr)
c.389T>C (p.Ile130Thr)
c.486-16940A>G (n.486-16940A>G)
c.374T>C (p.Ile125Thr)
9g.36246258A>TCA373419063CLTA,GNEc.482T>A (p.Ile161Asn)
c.212T>A (p.Ile71Asn)
c.389T>A (p.Ile130Asn)
c.486-16940A>T (n.486-16940A>T)
c.374T>A (p.Ile125Asn)
9g.36246258_36246259delCA913157669CLTA,GNEc.481_482del (p.Ile161ProfsTer4)
c.211_212del (p.Ile71ProfsTer4)
c.388_389del (p.Ile130ProfsTer4)
c.486-16940_486-16939del (n.486-16940_486-16939del)
c.373_374del (p.Ile125ProfsTer4)
9g.36246258_36246259delinsATCA1846320849CLTA,GNEc.481_482delinsAT (p.Ile161=)
c.211_212delinsAT (p.Ile71=)
c.388_389delinsAT (p.Ile130=)
c.486-16940_486-16939delinsAT (n.486-16940_486-16939delinsAT)
c.373_374delinsAT (p.Ile125=)
9g.36246259T>ACA373419068CLTA,GNEc.481A>T (p.Ile161Phe)
c.211A>T (p.Ile71Phe)
c.388A>T (p.Ile130Phe)
c.486-16939T>A (n.486-16939T>A)
c.373A>T (p.Ile125Phe)
9g.36246259T>CCA373419071CLTA,GNEc.481A>G (p.Ile161Val)
c.211A>G (p.Ile71Val)
c.388A>G (p.Ile130Val)
c.486-16939T>C (n.486-16939T>C)
c.373A>G (p.Ile125Val)
9g.36246259T>GCA373419074CLTA,GNEc.481A>C (p.Ile161Leu)
c.211A>C (p.Ile71Leu)
c.388A>C (p.Ile130Leu)
c.486-16939T>G (n.486-16939T>G)
c.373A>C (p.Ile125Leu)
9g.36246260delCA588147229CLTA,GNEc.481del (p.Ile161SerfsTer21)
c.211del (p.Ile71SerfsTer21)
c.388del (p.Ile130SerfsTer21)
c.486-16938del (n.486-16938del)
c.373del (p.Ile125SerfsTer21)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246260T>ACA464619724CLTA,GNEc.480A>T (p.Arg160=)
c.210A>T (p.Arg70=)
c.387A>T (p.Arg129=)
c.486-16938T>A (n.486-16938T>A)
c.372A>T (p.Arg124=)
9g.36246260T>CCA464619728CLTA,GNEc.480A>G (p.Arg160=)
c.210A>G (p.Arg70=)
c.387A>G (p.Arg129=)
c.486-16938T>C (n.486-16938T>C)
c.372A>G (p.Arg124=)
9g.36246260T>GCA464619730CLTA,GNEc.480A>C (p.Arg160=)
c.210A>C (p.Arg70=)
c.387A>C (p.Arg129=)
c.486-16938T>G (n.486-16938T>G)
c.372A>C (p.Arg124=)
 dbSNP
9g.36246260T=CA1846320864CLTA,GNEc.480A= (p.Arg160=)
c.210A= (p.Arg70=)
c.387A= (p.Arg129=)
c.486-16938T= (n.486-16938T=)
c.372A= (p.Arg124=)
9g.36246261C>ACA373419076CLTA,GNEc.479G>T (p.Arg160Leu)
c.209G>T (p.Arg70Leu)
c.386G>T (p.Arg129Leu)
c.486-16937C>A (n.486-16937C>A)
c.371G>T (p.Arg124Leu)
9g.36246261C=CA1846320870CLTA,GNEc.479G= (p.Arg160=)
c.209G= (p.Arg70=)
c.386G= (p.Arg129=)
c.486-16937C= (n.486-16937C=)
c.371G= (p.Arg124=)
9g.36246261C>GCA373419085CLTA,GNEc.479G>C (p.Arg160Pro)
c.209G>C (p.Arg70Pro)
c.386G>C (p.Arg129Pro)
c.486-16937C>G (n.486-16937C>G)
c.371G>C (p.Arg124Pro)
 gnomAD v4
9g.36246261C>TCA274432CLTA,GNEc.479G>A (p.Arg160Gln)
c.209G>A (p.Arg70Gln)
c.386G>A (p.Arg129Gln)
c.486-16937C>T (n.486-16937C>T)
c.371G>A (p.Arg124Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
9g.36246262G>ACA5056732CLTA,GNEc.478C>T (p.Arg160Ter)
c.208C>T (p.Arg70Ter)
c.385C>T (p.Arg129Ter)
c.486-16936G>A (n.486-16936G>A)
c.370C>T (p.Arg124Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246262G>CCA373419090CLTA,GNEc.478C>G (p.Arg160Gly)
c.208C>G (p.Arg70Gly)
c.385C>G (p.Arg129Gly)
c.486-16936G>C (n.486-16936G>C)
c.370C>G (p.Arg124Gly)
 ClinVar
9g.36246262G=CA1846320879CLTA,GNEc.478C= (p.Arg160=)
c.208C= (p.Arg70=)
c.385C= (p.Arg129=)
c.486-16936G= (n.486-16936G=)
c.370C= (p.Arg124=)
9g.36246262G>TCA464619739CLTA,GNEc.478C>A (p.Arg160=)
c.208C>A (p.Arg70=)
c.385C>A (p.Arg129=)
c.486-16936G>T (n.486-16936G>T)
c.370C>A (p.Arg124=)
9g.36246263G>ACA464619741CLTA,GNEc.477C>T (p.Ile159=)
c.207C>T (p.Ile69=)
c.384C>T (p.Ile128=)
c.486-16935G>A (n.486-16935G>A)
c.369C>T (p.Ile123=)
9g.36246263G>CCA373419094CLTA,GNEc.477C>G (p.Ile159Met)
c.207C>G (p.Ile69Met)
c.384C>G (p.Ile128Met)
c.486-16935G>C (n.486-16935G>C)
c.369C>G (p.Ile123Met)
9g.36246263G>TCA464619746CLTA,GNEc.477C>A (p.Ile159=)
c.207C>A (p.Ile69=)
c.384C>A (p.Ile128=)
c.486-16935G>T (n.486-16935G>T)
c.369C>A (p.Ile123=)
9g.36246264A>CCA373419099CLTA,GNEc.476T>G (p.Ile159Ser)
c.206T>G (p.Ile69Ser)
c.383T>G (p.Ile128Ser)
c.486-16934A>C (n.486-16934A>C)
c.368T>G (p.Ile123Ser)
9g.36246264A>GCA373419102CLTA,GNEc.476T>C (p.Ile159Thr)
c.206T>C (p.Ile69Thr)
c.383T>C (p.Ile128Thr)
c.486-16934A>G (n.486-16934A>G)
c.368T>C (p.Ile123Thr)
9g.36246264A>TCA373419106CLTA,GNEc.476T>A (p.Ile159Asn)
c.206T>A (p.Ile69Asn)
c.383T>A (p.Ile128Asn)
c.486-16934A>T (n.486-16934A>T)
c.368T>A (p.Ile123Asn)
 gnomAD v4
9g.36246264dupCA2695210605CLTA,GNEc.476dup (p.Arg160ProfsTer6)
c.206dup (p.Arg70ProfsTer6)
c.383dup (p.Arg129ProfsTer6)
c.486-16934dup (n.486-16934dup)
c.368dup (p.Arg124ProfsTer6)
9g.36246265T>ACA373419120CLTA,GNEc.475A>T (p.Ile159Phe)
c.205A>T (p.Ile69Phe)
c.382A>T (p.Ile128Phe)
c.486-16933T>A (n.486-16933T>A)
c.367A>T (p.Ile123Phe)
9g.36246265T>CCA373419112CLTA,GNEc.475A>G (p.Ile159Val)
c.205A>G (p.Ile69Val)
c.382A>G (p.Ile128Val)
c.486-16933T>C (n.486-16933T>C)
c.367A>G (p.Ile123Val)
9g.36246265T>GCA373419116CLTA,GNEc.475A>C (p.Ile159Leu)
c.205A>C (p.Ile69Leu)
c.382A>C (p.Ile128Leu)
c.486-16933T>G (n.486-16933T>G)
c.367A>C (p.Ile123Leu)
9g.36246266G>ACA464619754CLTA,GNEc.474C>T (p.Asn158=)
c.204C>T (p.Asn68=)
c.381C>T (p.Asn127=)
c.486-16932G>A (n.486-16932G>A)
c.366C>T (p.Asn122=)
9g.36246266G>CCA373419123CLTA,GNEc.474C>G (p.Asn158Lys)
c.204C>G (p.Asn68Lys)
c.381C>G (p.Asn127Lys)
c.486-16932G>C (n.486-16932G>C)
c.366C>G (p.Asn122Lys)
9g.36246266G>TCA373419126CLTA,GNEc.474C>A (p.Asn158Lys)
c.204C>A (p.Asn68Lys)
c.381C>A (p.Asn127Lys)
c.486-16932G>T (n.486-16932G>T)
c.366C>A (p.Asn122Lys)
9g.36246267T>ACA373419131CLTA,GNEc.473A>T (p.Asn158Ile)
c.203A>T (p.Asn68Ile)
c.380A>T (p.Asn127Ile)
c.486-16931T>A (n.486-16931T>A)
c.365A>T (p.Asn122Ile)
9g.36246267T>CCA373419133CLTA,GNEc.473A>G (p.Asn158Ser)
c.203A>G (p.Asn68Ser)
c.380A>G (p.Asn127Ser)
c.486-16931T>C (n.486-16931T>C)
c.365A>G (p.Asn122Ser)
9g.36246267T>GCA373419136CLTA,GNEc.473A>C (p.Asn158Thr)
c.203A>C (p.Asn68Thr)
c.380A>C (p.Asn127Thr)
c.486-16931T>G (n.486-16931T>G)
c.365A>C (p.Asn122Thr)
9g.36246268T>ACA373419140CLTA,GNEc.472A>T (p.Asn158Tyr)
c.202A>T (p.Asn68Tyr)
c.379A>T (p.Asn127Tyr)
c.486-16930T>A (n.486-16930T>A)
c.364A>T (p.Asn122Tyr)
9g.36246268T>CCA373419143CLTA,GNEc.472A>G (p.Asn158Asp)
c.202A>G (p.Asn68Asp)
c.379A>G (p.Asn127Asp)
c.486-16930T>C (n.486-16930T>C)
c.364A>G (p.Asn122Asp)
9g.36246268T>GCA373419141CLTA,GNEc.472A>C (p.Asn158His)
c.202A>C (p.Asn68His)
c.379A>C (p.Asn127His)
c.486-16930T>G (n.486-16930T>G)
c.364A>C (p.Asn122His)
9g.36246269C>ACA373419145CLTA,GNEc.471G>T (p.Met157Ile)
c.201G>T (p.Met67Ile)
c.378G>T (p.Met126Ile)
c.486-16929C>A (n.486-16929C>A)
c.363G>T (p.Met121Ile)
9g.36246269C>GCA373419147CLTA,GNEc.471G>C (p.Met157Ile)
c.201G>C (p.Met67Ile)
c.378G>C (p.Met126Ile)
c.486-16929C>G (n.486-16929C>G)
c.363G>C (p.Met121Ile)
9g.36246269C>TCA373419150CLTA,GNEc.471G>A (p.Met157Ile)
c.201G>A (p.Met67Ile)
c.378G>A (p.Met126Ile)
c.486-16929C>T (n.486-16929C>T)
c.363G>A (p.Met121Ile)
9g.36246270A>CCA373419153CLTA,GNEc.470T>G (p.Met157Arg)
c.200T>G (p.Met67Arg)
c.377T>G (p.Met126Arg)
c.486-16928A>C (n.486-16928A>C)
c.362T>G (p.Met121Arg)
9g.36246270A>GCA373419156CLTA,GNEc.470T>C (p.Met157Thr)
c.200T>C (p.Met67Thr)
c.377T>C (p.Met126Thr)
c.486-16928A>G (n.486-16928A>G)
c.362T>C (p.Met121Thr)
 COSMIC COSMIC COSMIC
9g.36246270A>TCA373419158CLTA,GNEc.470T>A (p.Met157Lys)
c.200T>A (p.Met67Lys)
c.377T>A (p.Met126Lys)
c.486-16928A>T (n.486-16928A>T)
c.362T>A (p.Met121Lys)
 ClinVar
9g.36246271T>ACA373419163CLTA,GNEc.469A>T (p.Met157Leu)
c.199A>T (p.Met67Leu)
c.376A>T (p.Met126Leu)
c.486-16927T>A (n.486-16927T>A)
c.361A>T (p.Met121Leu)
9g.36246271T>CCA373419165CLTA,GNEc.469A>G (p.Met157Val)
c.199A>G (p.Met67Val)
c.376A>G (p.Met126Val)
c.486-16927T>C (n.486-16927T>C)
c.361A>G (p.Met121Val)
9g.36246271T>GCA373419166CLTA,GNEc.469A>C (p.Met157Leu)
c.199A>C (p.Met67Leu)
c.376A>C (p.Met126Leu)
c.486-16927T>G (n.486-16927T>G)
c.361A>C (p.Met121Leu)
9g.36246272C>ACA373419170CLTA,GNEc.468G>T (p.Leu156Phe)
c.198G>T (p.Leu66Phe)
c.375G>T (p.Leu125Phe)
c.486-16926C>A (n.486-16926C>A)
c.360G>T (p.Leu120Phe)
9g.36246272C>GCA373419172CLTA,GNEc.468G>C (p.Leu156Phe)
c.198G>C (p.Leu66Phe)
c.375G>C (p.Leu125Phe)
c.486-16926C>G (n.486-16926C>G)
c.360G>C (p.Leu120Phe)
9g.36246272C>TCA464619780CLTA,GNEc.468G>A (p.Leu156=)
c.198G>A (p.Leu66=)
c.375G>A (p.Leu125=)
c.486-16926C>T (n.486-16926C>T)
c.360G>A (p.Leu120=)
 COSMIC COSMIC COSMIC
9g.36246273A>CCA373419174CLTA,GNEc.467T>G (p.Leu156Trp)
c.197T>G (p.Leu66Trp)
c.374T>G (p.Leu125Trp)
c.486-16925A>C (n.486-16925A>C)
c.359T>G (p.Leu120Trp)
9g.36246273A>GCA373419179CLTA,GNEc.467T>C (p.Leu156Ser)
c.197T>C (p.Leu66Ser)
c.374T>C (p.Leu125Ser)
c.486-16925A>G (n.486-16925A>G)
c.359T>C (p.Leu120Ser)
9g.36246273A>TCA373419176CLTA,GNEc.467T>A (p.Leu156Ter)
c.197T>A (p.Leu66Ter)
c.374T>A (p.Leu125Ter)
c.486-16925A>T (n.486-16925A>T)
c.359T>A (p.Leu120Ter)
9g.36246274A>CCA373419182CLTA,GNEc.466T>G (p.Leu156Val)
c.196T>G (p.Leu66Val)
c.373T>G (p.Leu125Val)
c.486-16924A>C (n.486-16924A>C)
c.358T>G (p.Leu120Val)
9g.36246274A>GCA464619785CLTA,GNEc.466T>C (p.Leu156=)
c.196T>C (p.Leu66=)
c.373T>C (p.Leu125=)
c.486-16924A>G (n.486-16924A>G)
c.358T>C (p.Leu120=)
9g.36246274A>TCA373419184CLTA,GNEc.466T>A (p.Leu156Met)
c.196T>A (p.Leu66Met)
c.373T>A (p.Leu125Met)
c.486-16924A>T (n.486-16924A>T)
c.358T>A (p.Leu120Met)
9g.36246275G>ACA464619791CLTA,GNEc.465C>T (p.Ala155=)
c.195C>T (p.Ala65=)
c.372C>T (p.Ala124=)
c.486-16923G>A (n.486-16923G>A)
c.357C>T (p.Ala119=)
9g.36246275G>CCA464619792CLTA,GNEc.465C>G (p.Ala155=)
c.195C>G (p.Ala65=)
c.372C>G (p.Ala124=)
c.486-16923G>C (n.486-16923G>C)
c.357C>G (p.Ala119=)
9g.36246275G>TCA464619794CLTA,GNEc.465C>A (p.Ala155=)
c.195C>A (p.Ala65=)
c.372C>A (p.Ala124=)
c.486-16923G>T (n.486-16923G>T)
c.357C>A (p.Ala119=)
9g.36246276G>ACA373419188CLTA,GNEc.464C>T (p.Ala155Val)
c.194C>T (p.Ala65Val)
c.371C>T (p.Ala124Val)
c.486-16922G>A (n.486-16922G>A)
c.356C>T (p.Ala119Val)
9g.36246276G>CCA373419191CLTA,GNEc.464C>G (p.Ala155Gly)
c.194C>G (p.Ala65Gly)
c.371C>G (p.Ala124Gly)
c.486-16922G>C (n.486-16922G>C)
c.356C>G (p.Ala119Gly)
9g.36246276G>TCA373419192CLTA,GNEc.464C>A (p.Ala155Asp)
c.194C>A (p.Ala65Asp)
c.371C>A (p.Ala124Asp)
c.486-16922G>T (n.486-16922G>T)
c.356C>A (p.Ala119Asp)
9g.36246277C>ACA373419195CLTA,GNEc.463G>T (p.Ala155Ser)
c.193G>T (p.Ala65Ser)
c.370G>T (p.Ala124Ser)
c.486-16921C>A (n.486-16921C>A)
c.355G>T (p.Ala119Ser)
9g.36246277C>GCA373419196CLTA,GNEc.463G>C (p.Ala155Pro)
c.193G>C (p.Ala65Pro)
c.370G>C (p.Ala124Pro)
c.486-16921C>G (n.486-16921C>G)
c.355G>C (p.Ala119Pro)
9g.36246277C>TCA373419198CLTA,GNEc.463G>A (p.Ala155Thr)
c.193G>A (p.Ala65Thr)
c.370G>A (p.Ala124Thr)
c.486-16921C>T (n.486-16921C>T)
c.355G>A (p.Ala119Thr)
 gnomAD v4
9g.36246278A>CCA464619799CLTA,GNEc.462T>G (p.Ala154=)
c.192T>G (p.Ala64=)
c.369T>G (p.Ala123=)
c.486-16920A>C (n.486-16920A>C)
c.354T>G (p.Ala118=)
9g.36246278A>GCA464619800CLTA,GNEc.462T>C (p.Ala154=)
c.192T>C (p.Ala64=)
c.369T>C (p.Ala123=)
c.486-16920A>G (n.486-16920A>G)
c.354T>C (p.Ala118=)
 gnomAD v4
9g.36246278A>TCA464619801CLTA,GNEc.462T>A (p.Ala154=)
c.192T>A (p.Ala64=)
c.369T>A (p.Ala123=)
c.486-16920A>T (n.486-16920A>T)
c.354T>A (p.Ala118=)
9g.36246279G>ACA373419201CLTA,GNEc.461C>T (p.Ala154Val)
c.191C>T (p.Ala64Val)
c.368C>T (p.Ala123Val)
c.486-16919G>A (n.486-16919G>A)
c.353C>T (p.Ala118Val)
 dbSNP gnomAD v3 gnomAD v4
9g.36246279G>CCA373419203CLTA,GNEc.461C>G (p.Ala154Gly)
c.191C>G (p.Ala64Gly)
c.368C>G (p.Ala123Gly)
c.486-16919G>C (n.486-16919G>C)
c.353C>G (p.Ala118Gly)
9g.36246279G=CA1846320888CLTA,GNEc.461C= (p.Ala154=)
c.191C= (p.Ala64=)
c.368C= (p.Ala123=)
c.486-16919G= (n.486-16919G=)
c.353C= (p.Ala118=)
9g.36246279G>TCA373419206CLTA,GNEc.461C>A (p.Ala154Asp)
c.191C>A (p.Ala64Asp)
c.368C>A (p.Ala123Asp)
c.486-16919G>T (n.486-16919G>T)
c.353C>A (p.Ala118Asp)
9g.36246280C>ACA373419209CLTA,GNEc.460G>T (p.Ala154Ser)
c.190G>T (p.Ala64Ser)
c.367G>T (p.Ala123Ser)
c.486-16918C>A (n.486-16918C>A)
c.352G>T (p.Ala118Ser)
9g.36246280C>GCA373419212CLTA,GNEc.460G>C (p.Ala154Pro)
c.190G>C (p.Ala64Pro)
c.367G>C (p.Ala123Pro)
c.486-16918C>G (n.486-16918C>G)
c.352G>C (p.Ala118Pro)
9g.36246280C>TCA373419215CLTA,GNEc.460G>A (p.Ala154Thr)
c.190G>A (p.Ala64Thr)
c.367G>A (p.Ala123Thr)
c.486-16918C>T (n.486-16918C>T)
c.352G>A (p.Ala118Thr)
9g.36246281A=CA1846320894CLTA,GNEc.459T= (p.Ser153=)
c.189T= (p.Ser63=)
c.366T= (p.Ser122=)
c.486-16917A= (n.486-16917A=)
c.351T= (p.Ser117=)
9g.36246281A>CCA464619810CLTA,GNEc.459T>G (p.Ser153=)
c.189T>G (p.Ser63=)
c.366T>G (p.Ser122=)
c.486-16917A>C (n.486-16917A>C)
c.351T>G (p.Ser117=)
 dbSNP
9g.36246281A>GCA464619811CLTA,GNEc.459T>C (p.Ser153=)
c.189T>C (p.Ser63=)
c.366T>C (p.Ser122=)
c.486-16917A>G (n.486-16917A>G)
c.351T>C (p.Ser117=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246281A>TCA464619806CLTA,GNEc.459T>A (p.Ser153=)
c.189T>A (p.Ser63=)
c.366T>A (p.Ser122=)
c.486-16917A>T (n.486-16917A>T)
c.351T>A (p.Ser117=)
9g.36246282G>ACA373419225CLTA,GNEc.458C>T (p.Ser153Phe)
c.188C>T (p.Ser63Phe)
c.365C>T (p.Ser122Phe)
c.486-16916G>A (n.486-16916G>A)
c.350C>T (p.Ser117Phe)
9g.36246282G>CCA373419222CLTA,GNEc.458C>G (p.Ser153Cys)
c.188C>G (p.Ser63Cys)
c.365C>G (p.Ser122Cys)
c.486-16916G>C (n.486-16916G>C)
c.350C>G (p.Ser117Cys)
9g.36246282G>TCA373419220CLTA,GNEc.458C>A (p.Ser153Tyr)
c.188C>A (p.Ser63Tyr)
c.365C>A (p.Ser122Tyr)
c.486-16916G>T (n.486-16916G>T)
c.350C>A (p.Ser117Tyr)
9g.36246283A>CCA373419228CLTA,GNEc.457T>G (p.Ser153Ala)
c.187T>G (p.Ser63Ala)
c.364T>G (p.Ser122Ala)
c.486-16915A>C (n.486-16915A>C)
c.349T>G (p.Ser117Ala)
9g.36246283A>GCA373419230CLTA,GNEc.457T>C (p.Ser153Pro)
c.187T>C (p.Ser63Pro)
c.364T>C (p.Ser122Pro)
c.486-16915A>G (n.486-16915A>G)
c.349T>C (p.Ser117Pro)
 gnomAD v4
9g.36246283A>TCA373419233CLTA,GNEc.457T>A (p.Ser153Thr)
c.187T>A (p.Ser63Thr)
c.364T>A (p.Ser122Thr)
c.486-16915A>T (n.486-16915A>T)
c.349T>A (p.Ser117Thr)
9g.36246284T>ACA464619816CLTA,GNEc.456A>T (p.Thr152=)
c.186A>T (p.Thr62=)
c.363A>T (p.Thr121=)
c.486-16914T>A (n.486-16914T>A)
c.348A>T (p.Thr116=)
9g.36246284T>CCA464619819CLTA,GNEc.456A>G (p.Thr152=)
c.186A>G (p.Thr62=)
c.363A>G (p.Thr121=)
c.486-16914T>C (n.486-16914T>C)
c.348A>G (p.Thr116=)
 ClinVar
9g.36246284T>GCA464619821CLTA,GNEc.456A>C (p.Thr152=)
c.186A>C (p.Thr62=)
c.363A>C (p.Thr121=)
c.486-16914T>G (n.486-16914T>G)
c.348A>C (p.Thr116=)
9g.36246285G>ACA373419237CLTA,GNEc.455C>T (p.Thr152Ile)
c.185C>T (p.Thr62Ile)
c.362C>T (p.Thr121Ile)
c.486-16913G>A (n.486-16913G>A)
c.347C>T (p.Thr116Ile)
9g.36246285G>CCA373419240CLTA,GNEc.455C>G (p.Thr152Arg)
c.185C>G (p.Thr62Arg)
c.362C>G (p.Thr121Arg)
c.486-16913G>C (n.486-16913G>C)
c.347C>G (p.Thr116Arg)
9g.36246285G>TCA373419243CLTA,GNEc.455C>A (p.Thr152Lys)
c.185C>A (p.Thr62Lys)
c.362C>A (p.Thr121Lys)
c.486-16913G>T (n.486-16913G>T)
c.347C>A (p.Thr116Lys)
9g.36246285dupCA2695210606CLTA,GNEc.455dup (p.Ser153IlefsTer13)
c.185dup (p.Ser63IlefsTer13)
c.362dup (p.Ser122IlefsTer13)
c.486-16913dup (n.486-16913dup)
c.347dup (p.Ser117IlefsTer13)
9g.36246286T>ACA373419247CLTA,GNEc.454A>T (p.Thr152Ser)
c.184A>T (p.Thr62Ser)
c.361A>T (p.Thr121Ser)
c.486-16912T>A (n.486-16912T>A)
c.346A>T (p.Thr116Ser)
9g.36246286T>CCA373419249CLTA,GNEc.454A>G (p.Thr152Ala)
c.184A>G (p.Thr62Ala)
c.361A>G (p.Thr121Ala)
c.486-16912T>C (n.486-16912T>C)
c.346A>G (p.Thr116Ala)
9g.36246286T>GCA373419252CLTA,GNEc.454A>C (p.Thr152Pro)
c.184A>C (p.Thr62Pro)
c.361A>C (p.Thr121Pro)
c.486-16912T>G (n.486-16912T>G)
c.346A>C (p.Thr116Pro)
9g.36246287G>ACA464619831CLTA,GNEc.453C>T (p.Ala151=)
c.183C>T (p.Ala61=)
c.360C>T (p.Ala120=)
c.486-16911G>A (n.486-16911G>A)
c.345C>T (p.Ala115=)
9g.36246287G>CCA464619830CLTA,GNEc.453C>G (p.Ala151=)
c.183C>G (p.Ala61=)
c.360C>G (p.Ala120=)
c.486-16911G>C (n.486-16911G>C)
c.345C>G (p.Ala115=)
9g.36246287G>TCA464619829CLTA,GNEc.453C>A (p.Ala151=)
c.183C>A (p.Ala61=)
c.360C>A (p.Ala120=)
c.486-16911G>T (n.486-16911G>T)
c.345C>A (p.Ala115=)
9g.36246288G>ACA373419256CLTA,GNEc.452C>T (p.Ala151Val)
c.182C>T (p.Ala61Val)
c.359C>T (p.Ala120Val)
c.486-16910G>A (n.486-16910G>A)
c.344C>T (p.Ala115Val)
9g.36246288G>CCA373419258CLTA,GNEc.452C>G (p.Ala151Gly)
c.182C>G (p.Ala61Gly)
c.359C>G (p.Ala120Gly)
c.486-16910G>C (n.486-16910G>C)
c.344C>G (p.Ala115Gly)
9g.36246288G>TCA373419261CLTA,GNEc.452C>A (p.Ala151Asp)
c.182C>A (p.Ala61Asp)
c.359C>A (p.Ala120Asp)
c.486-16910G>T (n.486-16910G>T)
c.344C>A (p.Ala115Asp)
9g.36246289C>ACA373419270CLTA,GNEc.451G>T (p.Ala151Ser)
c.181G>T (p.Ala61Ser)
c.358G>T (p.Ala120Ser)
c.486-16909C>A (n.486-16909C>A)
c.343G>T (p.Ala115Ser)
9g.36246289C>GCA373419267CLTA,GNEc.451G>C (p.Ala151Pro)
c.181G>C (p.Ala61Pro)
c.358G>C (p.Ala120Pro)
c.486-16909C>G (n.486-16909C>G)
c.343G>C (p.Ala115Pro)
9g.36246289C>TCA373419265CLTA,GNEc.451G>A (p.Ala151Thr)
c.181G>A (p.Ala61Thr)
c.358G>A (p.Ala120Thr)
c.486-16909C>T (n.486-16909C>T)
c.343G>A (p.Ala115Thr)
9g.36246290dupCA2839959423CLTA,GNEc.451dup (p.Ala151GlyfsTer15)
c.181dup (p.Ala61GlyfsTer15)
c.358dup (p.Ala120GlyfsTer15)
c.486-16908dup (n.486-16908dup)
c.343dup (p.Ala115GlyfsTer15)
9g.36246290C>ACA464619841CLTA,GNEc.450G>T (p.Leu150=)
c.180G>T (p.Leu60=)
c.357G>T (p.Leu119=)
c.486-16908C>A (n.486-16908C>A)
c.342G>T (p.Leu114=)
9g.36246290C>GCA464619842CLTA,GNEc.450G>C (p.Leu150=)
c.180G>C (p.Leu60=)
c.357G>C (p.Leu119=)
c.486-16908C>G (n.486-16908C>G)
c.342G>C (p.Leu114=)
9g.36246290C>TCA464619843CLTA,GNEc.450G>A (p.Leu150=)
c.180G>A (p.Leu60=)
c.357G>A (p.Leu119=)
c.486-16908C>T (n.486-16908C>T)
c.342G>A (p.Leu114=)
9g.36246291A>CCA373419274CLTA,GNEc.449T>G (p.Leu150Arg)
c.179T>G (p.Leu60Arg)
c.356T>G (p.Leu119Arg)
c.486-16907A>C (n.486-16907A>C)
c.341T>G (p.Leu114Arg)
9g.36246291A>GCA373419275CLTA,GNEc.449T>C (p.Leu150Pro)
c.179T>C (p.Leu60Pro)
c.356T>C (p.Leu119Pro)
c.486-16907A>G (n.486-16907A>G)
c.341T>C (p.Leu114Pro)
9g.36246291A>TCA373419276CLTA,GNEc.449T>A (p.Leu150Gln)
c.179T>A (p.Leu60Gln)
c.356T>A (p.Leu119Gln)
c.486-16907A>T (n.486-16907A>T)
c.341T>A (p.Leu114Gln)
9g.36246292G>ACA464619851CLTA,GNEc.448C>T (p.Leu150=)
c.178C>T (p.Leu60=)
c.355C>T (p.Leu119=)
c.486-16906G>A (n.486-16906G>A)
c.340C>T (p.Leu114=)
9g.36246292G>CCA373419277CLTA,GNEc.448C>G (p.Leu150Val)
c.178C>G (p.Leu60Val)
c.355C>G (p.Leu119Val)
c.486-16906G>C (n.486-16906G>C)
c.340C>G (p.Leu114Val)
 gnomAD v4
9g.36246292G>TCA373419278CLTA,GNEc.448C>A (p.Leu150Met)
c.178C>A (p.Leu60Met)
c.355C>A (p.Leu119Met)
c.486-16906G>T (n.486-16906G>T)
c.340C>A (p.Leu114Met)
9g.36246293A>CCA464619853CLTA,GNEc.447T>G (p.Ala149=)
c.177T>G (p.Ala59=)
c.354T>G (p.Ala118=)
c.486-16905A>C (n.486-16905A>C)
c.339T>G (p.Ala113=)
9g.36246293A>GCA464619854CLTA,GNEc.447T>C (p.Ala149=)
c.177T>C (p.Ala59=)
c.354T>C (p.Ala118=)
c.486-16905A>G (n.486-16905A>G)
c.339T>C (p.Ala113=)
9g.36246293A>TCA464619855CLTA,GNEc.447T>A (p.Ala149=)
c.177T>A (p.Ala59=)
c.354T>A (p.Ala118=)
c.486-16905A>T (n.486-16905A>T)
c.339T>A (p.Ala113=)
9g.36246294G>ACA373419279CLTA,GNEc.446C>T (p.Ala149Val)
c.176C>T (p.Ala59Val)
c.353C>T (p.Ala118Val)
c.486-16904G>A (n.486-16904G>A)
c.338C>T (p.Ala113Val)
 ClinVar
9g.36246294G>CCA373419280CLTA,GNEc.446C>G (p.Ala149Gly)
c.176C>G (p.Ala59Gly)
c.353C>G (p.Ala118Gly)
c.486-16904G>C (n.486-16904G>C)
c.338C>G (p.Ala113Gly)
9g.36246294G>TCA373419281CLTA,GNEc.446C>A (p.Ala149Asp)
c.176C>A (p.Ala59Asp)
c.353C>A (p.Ala118Asp)
c.486-16904G>T (n.486-16904G>T)
c.338C>A (p.Ala113Asp)
9g.36246295C>ACA373419282CLTA,GNEc.445G>T (p.Ala149Ser)
c.175G>T (p.Ala59Ser)
c.352G>T (p.Ala118Ser)
c.486-16903C>A (n.486-16903C>A)
c.337G>T (p.Ala113Ser)
9g.36246295C>GCA373419283CLTA,GNEc.445G>C (p.Ala149Pro)
c.175G>C (p.Ala59Pro)
c.352G>C (p.Ala118Pro)
c.486-16903C>G (n.486-16903C>G)
c.337G>C (p.Ala113Pro)
9g.36246295C>TCA373419284CLTA,GNEc.445G>A (p.Ala149Thr)
c.175G>A (p.Ala59Thr)
c.352G>A (p.Ala118Thr)
c.486-16903C>T (n.486-16903C>T)
c.337G>A (p.Ala113Thr)
9g.36246296C>ACA464619859CLTA,GNEc.444G>T (p.Leu148=)
c.174G>T (p.Leu58=)
c.351G>T (p.Leu117=)
c.486-16902C>A (n.486-16902C>A)
c.336G>T (p.Leu112=)
9g.36246296C>GCA464619861CLTA,GNEc.444G>C (p.Leu148=)
c.174G>C (p.Leu58=)
c.351G>C (p.Leu117=)
c.486-16902C>G (n.486-16902C>G)
c.336G>C (p.Leu112=)
9g.36246296C>TCA464619862CLTA,GNEc.444G>A (p.Leu148=)
c.174G>A (p.Leu58=)
c.351G>A (p.Leu117=)
c.486-16902C>T (n.486-16902C>T)
c.336G>A (p.Leu112=)
9g.36246297A=CA1846320896CLTA,GNEc.443T= (p.Leu148=)
c.173T= (p.Leu58=)
c.350T= (p.Leu117=)
c.486-16901A= (n.486-16901A=)
c.335T= (p.Leu112=)
9g.36246297A>CCA373419285CLTA,GNEc.443T>G (p.Leu148Arg)
c.173T>G (p.Leu58Arg)
c.350T>G (p.Leu117Arg)
c.486-16901A>C (n.486-16901A>C)
c.335T>G (p.Leu112Arg)
9g.36246297A>GCA373419286CLTA,GNEc.443T>C (p.Leu148Pro)
c.173T>C (p.Leu58Pro)
c.350T>C (p.Leu117Pro)
c.486-16901A>G (n.486-16901A>G)
c.335T>C (p.Leu112Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246297A>TCA373419287CLTA,GNEc.443T>A (p.Leu148Gln)
c.173T>A (p.Leu58Gln)
c.350T>A (p.Leu117Gln)
c.486-16901A>T (n.486-16901A>T)
c.335T>A (p.Leu112Gln)
9g.36246298G>ACA464619865CLTA,GNEc.442C>T (p.Leu148=)
c.172C>T (p.Leu58=)
c.349C>T (p.Leu117=)
c.486-16900G>A (n.486-16900G>A)
c.334C>T (p.Leu112=)
 gnomAD v4
9g.36246298G>CCA373419288CLTA,GNEc.442C>G (p.Leu148Val)
c.172C>G (p.Leu58Val)
c.349C>G (p.Leu117Val)
c.486-16900G>C (n.486-16900G>C)
c.334C>G (p.Leu112Val)
9g.36246298G>TCA373419291CLTA,GNEc.442C>A (p.Leu148Met)
c.172C>A (p.Leu58Met)
c.349C>A (p.Leu117Met)
c.486-16900G>T (n.486-16900G>T)
c.334C>A (p.Leu112Met)
9g.36246299G>ACA464619866CLTA,GNEc.441C>T (p.Ala147=)
c.171C>T (p.Ala57=)
c.348C>T (p.Ala116=)
c.486-16899G>A (n.486-16899G>A)
c.333C>T (p.Ala111=)
 ClinVar
9g.36246299G>CCA464619868CLTA,GNEc.441C>G (p.Ala147=)
c.171C>G (p.Ala57=)
c.348C>G (p.Ala116=)
c.486-16899G>C (n.486-16899G>C)
c.333C>G (p.Ala111=)
9g.36246299G>TCA464619869CLTA,GNEc.441C>A (p.Ala147=)
c.171C>A (p.Ala57=)
c.348C>A (p.Ala116=)
c.486-16899G>T (n.486-16899G>T)
c.333C>A (p.Ala111=)
9g.36246300G>ACA373419295CLTA,GNEc.440C>T (p.Ala147Val)
c.170C>T (p.Ala57Val)
c.347C>T (p.Ala116Val)
c.486-16898G>A (n.486-16898G>A)
c.332C>T (p.Ala111Val)
9g.36246300G>CCA373419298CLTA,GNEc.440C>G (p.Ala147Gly)
c.170C>G (p.Ala57Gly)
c.347C>G (p.Ala116Gly)
c.486-16898G>C (n.486-16898G>C)
c.332C>G (p.Ala111Gly)
9g.36246300G>TCA373419301CLTA,GNEc.440C>A (p.Ala147Asp)
c.170C>A (p.Ala57Asp)
c.347C>A (p.Ala116Asp)
c.486-16898G>T (n.486-16898G>T)
c.332C>A (p.Ala111Asp)
9g.36246301C>ACA373419303CLTA,GNEc.439G>T (p.Ala147Ser)
c.169G>T (p.Ala57Ser)
c.346G>T (p.Ala116Ser)
c.486-16897C>A (n.486-16897C>A)
c.331G>T (p.Ala111Ser)
9g.36246301C>GCA373419306CLTA,GNEc.439G>C (p.Ala147Pro)
c.169G>C (p.Ala57Pro)
c.346G>C (p.Ala116Pro)
c.486-16897C>G (n.486-16897C>G)
c.331G>C (p.Ala111Pro)
9g.36246301C>TCA373419309CLTA,GNEc.439G>A (p.Ala147Thr)
c.169G>A (p.Ala57Thr)
c.346G>A (p.Ala116Thr)
c.486-16897C>T (n.486-16897C>T)
c.331G>A (p.Ala111Thr)
9g.36246302A>CCA373419312CLTA,GNEc.438T>G (p.Asp146Glu)
c.168T>G (p.Asp56Glu)
c.345T>G (p.Asp115Glu)
c.486-16896A>C (n.486-16896A>C)
c.330T>G (p.Asp110Glu)
9g.36246302A>GCA464619879CLTA,GNEc.438T>C (p.Asp146=)
c.168T>C (p.Asp56=)
c.345T>C (p.Asp115=)
c.486-16896A>G (n.486-16896A>G)
c.330T>C (p.Asp110=)
9g.36246302A>TCA373419314CLTA,GNEc.438T>A (p.Asp146Glu)
c.168T>A (p.Asp56Glu)
c.345T>A (p.Asp115Glu)
c.486-16896A>T (n.486-16896A>T)
c.330T>A (p.Asp110Glu)
9g.36246303delCA2689947825CLTA,GNEc.437del (p.Asp146ValfsTer11)
c.167del (p.Asp56ValfsTer11)
c.344del (p.Asp115ValfsTer11)
c.486-16895del (n.486-16895del)
c.329del (p.Asp110ValfsTer11)
 gnomAD v4
9g.36246303T>ACA373419319CLTA,GNEc.437A>T (p.Asp146Val)
c.167A>T (p.Asp56Val)
c.344A>T (p.Asp115Val)
c.486-16895T>A (n.486-16895T>A)
c.329A>T (p.Asp110Val)
9g.36246303T>CCA373419322CLTA,GNEc.437A>G (p.Asp146Gly)
c.167A>G (p.Asp56Gly)
c.344A>G (p.Asp115Gly)
c.486-16895T>C (n.486-16895T>C)
c.329A>G (p.Asp110Gly)
9g.36246303T>GCA373419324CLTA,GNEc.437A>C (p.Asp146Ala)
c.167A>C (p.Asp56Ala)
c.344A>C (p.Asp115Ala)
c.486-16895T>G (n.486-16895T>G)
c.329A>C (p.Asp110Ala)
9g.36246304C>ACA373419329CLTA,GNEc.436G>T (p.Asp146Tyr)
c.166G>T (p.Asp56Tyr)
c.343G>T (p.Asp115Tyr)
c.486-16894C>A (n.486-16894C>A)
c.328G>T (p.Asp110Tyr)
9g.36246304C=CA1846320900CLTA,GNEc.436G= (p.Asp146=)
c.166G= (p.Asp56=)
c.343G= (p.Asp115=)
c.486-16894C= (n.486-16894C=)
c.328G= (p.Asp110=)
9g.36246304C>GCA373419335CLTA,GNEc.436G>C (p.Asp146His)
c.166G>C (p.Asp56His)
c.343G>C (p.Asp115His)
c.486-16894C>G (n.486-16894C>G)
c.328G>C (p.Asp110His)
9g.36246304C>TCA373419331CLTA,GNEc.436G>A (p.Asp146Asn)
c.166G>A (p.Asp56Asn)
c.343G>A (p.Asp115Asn)
c.486-16894C>T (n.486-16894C>T)
c.328G>A (p.Asp110Asn)
 dbSNP gnomAD v4
9g.36246305A>CCA373419339CLTA,GNEc.435T>G (p.Phe145Leu)
c.165T>G (p.Phe55Leu)
c.342T>G (p.Phe114Leu)
c.486-16893A>C (n.486-16893A>C)
c.327T>G (p.Phe109Leu)
9g.36246305A>GCA464619883CLTA,GNEc.435T>C (p.Phe145=)
c.165T>C (p.Phe55=)
c.342T>C (p.Phe114=)
c.486-16893A>G (n.486-16893A>G)
c.327T>C (p.Phe109=)
9g.36246305A>TCA373419342CLTA,GNEc.435T>A (p.Phe145Leu)
c.165T>A (p.Phe55Leu)
c.342T>A (p.Phe114Leu)
c.486-16893A>T (n.486-16893A>T)
c.327T>A (p.Phe109Leu)
9g.36246306A=CA1846320902CLTA,GNEc.434T= (p.Phe145=)
c.164T= (p.Phe55=)
c.341T= (p.Phe114=)
c.486-16892A= (n.486-16892A=)
c.326T= (p.Phe109=)
9g.36246306A>CCA373419345CLTA,GNEc.434T>G (p.Phe145Cys)
c.164T>G (p.Phe55Cys)
c.341T>G (p.Phe114Cys)
c.486-16892A>C (n.486-16892A>C)
c.326T>G (p.Phe109Cys)
9g.36246306A>GCA373419351CLTA,GNEc.434T>C (p.Phe145Ser)
c.164T>C (p.Phe55Ser)
c.341T>C (p.Phe114Ser)
c.486-16892A>G (n.486-16892A>G)
c.326T>C (p.Phe109Ser)
 dbSNP
9g.36246306A>TCA373419348CLTA,GNEc.434T>A (p.Phe145Tyr)
c.164T>A (p.Phe55Tyr)
c.341T>A (p.Phe114Tyr)
c.486-16892A>T (n.486-16892A>T)
c.326T>A (p.Phe109Tyr)
9g.36246307A>CCA373419353CLTA,GNEc.433T>G (p.Phe145Val)
c.163T>G (p.Phe55Val)
c.340T>G (p.Phe114Val)
c.486-16891A>C (n.486-16891A>C)
c.325T>G (p.Phe109Val)
9g.36246307A>GCA373419358CLTA,GNEc.433T>C (p.Phe145Leu)
c.163T>C (p.Phe55Leu)
c.340T>C (p.Phe114Leu)
c.486-16891A>G (n.486-16891A>G)
c.325T>C (p.Phe109Leu)
9g.36246307A>TCA373419356CLTA,GNEc.433T>A (p.Phe145Ile)
c.163T>A (p.Phe55Ile)
c.340T>A (p.Phe114Ile)
c.486-16891A>T (n.486-16891A>T)
c.325T>A (p.Phe109Ile)
9g.36246308C>ACA373419360CLTA,GNEc.432G>T (p.Arg144Ser)
c.162G>T (p.Arg54Ser)
c.339G>T (p.Arg113Ser)
c.486-16890C>A (n.486-16890C>A)
c.324G>T (p.Arg108Ser)
9g.36246308C>GCA373419363CLTA,GNEc.432G>C (p.Arg144Ser)
c.162G>C (p.Arg54Ser)
c.339G>C (p.Arg113Ser)
c.486-16890C>G (n.486-16890C>G)
c.324G>C (p.Arg108Ser)
9g.36246308C>TCA464619890CLTA,GNEc.432G>A (p.Arg144=)
c.162G>A (p.Arg54=)
c.339G>A (p.Arg113=)
c.486-16890C>T (n.486-16890C>T)
c.324G>A (p.Arg108=)
9g.36246309C>ACA373419366CLTA,GNEc.431G>T (p.Arg144Met)
c.161G>T (p.Arg54Met)
c.338G>T (p.Arg113Met)
c.486-16889C>A (n.486-16889C>A)
c.323G>T (p.Arg108Met)
9g.36246309C>GCA373419374CLTA,GNEc.431G>C (p.Arg144Thr)
c.161G>C (p.Arg54Thr)
c.338G>C (p.Arg113Thr)
c.486-16889C>G (n.486-16889C>G)
c.323G>C (p.Arg108Thr)
9g.36246309C>TCA373419375CLTA,GNEc.431G>A (p.Arg144Lys)
c.161G>A (p.Arg54Lys)
c.338G>A (p.Arg113Lys)
c.486-16889C>T (n.486-16889C>T)
c.323G>A (p.Arg108Lys)
9g.36246310T>ACA373419378CLTA,GNEc.430A>T (p.Arg144Trp)
c.160A>T (p.Arg54Trp)
c.337A>T (p.Arg113Trp)
c.486-16888T>A (n.486-16888T>A)
c.322A>T (p.Arg108Trp)
9g.36246310T>CCA373419381CLTA,GNEc.430A>G (p.Arg144Gly)
c.160A>G (p.Arg54Gly)
c.337A>G (p.Arg113Gly)
c.486-16888T>C (n.486-16888T>C)
c.322A>G (p.Arg108Gly)
9g.36246310T>GCA464619897CLTA,GNEc.430A>C (p.Arg144=)
c.160A>C (p.Arg54=)
c.337A>C (p.Arg113=)
c.486-16888T>G (n.486-16888T>G)
c.322A>C (p.Arg108=)
9g.36246311G>ACA192828325CLTA,GNEc.429C>T (p.Asp143=)
c.159C>T (p.Asp53=)
c.336C>T (p.Asp112=)
c.486-16887G>A (n.486-16887G>A)
c.321C>T (p.Asp107=)
 dbSNP
9g.36246311G>CCA373419385CLTA,GNEc.429C>G (p.Asp143Glu)
c.159C>G (p.Asp53Glu)
c.336C>G (p.Asp112Glu)
c.486-16887G>C (n.486-16887G>C)
c.321C>G (p.Asp107Glu)
9g.36246311G=CA1846320907CLTA,GNEc.429C= (p.Asp143=)
c.159C= (p.Asp53=)
c.336C= (p.Asp112=)
c.486-16887G= (n.486-16887G=)
c.321C= (p.Asp107=)
9g.36246311G>TCA373419388CLTA,GNEc.429C>A (p.Asp143Glu)
c.159C>A (p.Asp53Glu)
c.336C>A (p.Asp112Glu)
c.486-16887G>T (n.486-16887G>T)
c.321C>A (p.Asp107Glu)
 gnomAD v4
9g.36246312T>ACA373419394CLTA,GNEc.428A>T (p.Asp143Val)
c.158A>T (p.Asp53Val)
c.335A>T (p.Asp112Val)
c.486-16886T>A (n.486-16886T>A)
c.320A>T (p.Asp107Val)
9g.36246312T>CCA373419397CLTA,GNEc.428A>G (p.Asp143Gly)
c.158A>G (p.Asp53Gly)
c.335A>G (p.Asp112Gly)
c.486-16886T>C (n.486-16886T>C)
c.320A>G (p.Asp107Gly)
9g.36246312T>GCA373419401CLTA,GNEc.428A>C (p.Asp143Ala)
c.158A>C (p.Asp53Ala)
c.335A>C (p.Asp112Ala)
c.486-16886T>G (n.486-16886T>G)
c.320A>C (p.Asp107Ala)
9g.36246313C>ACA373419416CLTA,GNEc.427G>T (p.Asp143Tyr)
c.157G>T (p.Asp53Tyr)
c.334G>T (p.Asp112Tyr)
c.486-16885C>A (n.486-16885C>A)
c.319G>T (p.Asp107Tyr)
9g.36246313C>GCA373419407CLTA,GNEc.427G>C (p.Asp143His)
c.157G>C (p.Asp53His)
c.334G>C (p.Asp112His)
c.486-16885C>G (n.486-16885C>G)
c.319G>C (p.Asp107His)
9g.36246313C>TCA373419411CLTA,GNEc.427G>A (p.Asp143Asn)
c.157G>A (p.Asp53Asn)
c.334G>A (p.Asp112Asn)
c.486-16885C>T (n.486-16885C>T)
c.319G>A (p.Asp107Asn)
9g.36246314T>ACA464619903CLTA,GNEc.426A>T (p.Gly142=)
c.156A>T (p.Gly52=)
c.333A>T (p.Gly111=)
c.486-16884T>A (n.486-16884T>A)
c.318A>T (p.Gly106=)
9g.36246314T>CCA464619909CLTA,GNEc.426A>G (p.Gly142=)
c.156A>G (p.Gly52=)
c.333A>G (p.Gly111=)
c.486-16884T>C (n.486-16884T>C)
c.318A>G (p.Gly106=)
9g.36246314T>GCA464619911CLTA,GNEc.426A>C (p.Gly142=)
c.156A>C (p.Gly52=)
c.333A>C (p.Gly111=)
c.486-16884T>G (n.486-16884T>G)
c.318A>C (p.Gly106=)
9g.36246316_36246326delCA2573106149CLTA,GNEc.416_426del (p.Ile139ArgfsTer4)
c.146_156del (p.Ile49ArgfsTer4)
c.323_333del (p.Ile108ArgfsTer4)
c.486-16882_486-16872del (n.486-16882_486-16872del)
c.308_318del (p.Ile103ArgfsTer4)
9g.36246315C>ACA373419421CLTA,GNEc.425G>T (p.Gly142Val)
c.155G>T (p.Gly52Val)
c.332G>T (p.Gly111Val)
c.486-16883C>A (n.486-16883C>A)
c.317G>T (p.Gly106Val)
9g.36246315C>GCA373419423CLTA,GNEc.425G>C (p.Gly142Ala)
c.155G>C (p.Gly52Ala)
c.332G>C (p.Gly111Ala)
c.486-16883C>G (n.486-16883C>G)
c.317G>C (p.Gly106Ala)
9g.36246315C>TCA373419427CLTA,GNEc.425G>A (p.Gly142Glu)
c.155G>A (p.Gly52Glu)
c.332G>A (p.Gly111Glu)
c.486-16883C>T (n.486-16883C>T)
c.317G>A (p.Gly106Glu)
 gnomAD v4
9g.36246316C>ACA373419431CLTA,GNEc.424G>T (p.Gly142Ter)
c.154G>T (p.Gly52Ter)
c.331G>T (p.Gly111Ter)
c.486-16882C>A (n.486-16882C>A)
c.316G>T (p.Gly106Ter)
9g.36246316C>GCA373419435CLTA,GNEc.424G>C (p.Gly142Arg)
c.154G>C (p.Gly52Arg)
c.331G>C (p.Gly111Arg)
c.486-16882C>G (n.486-16882C>G)
c.316G>C (p.Gly106Arg)
9g.36246316C>TCA373419439CLTA,GNEc.424G>A (p.Gly142Arg)
c.154G>A (p.Gly52Arg)
c.331G>A (p.Gly111Arg)
c.486-16882C>T (n.486-16882C>T)
c.316G>A (p.Gly106Arg)
9g.36246317A>CCA373419444CLTA,GNEc.423T>G (p.His141Gln)
c.153T>G (p.His51Gln)
c.330T>G (p.His110Gln)
c.486-16881A>C (n.486-16881A>C)
c.315T>G (p.His105Gln)
9g.36246317A>GCA464619917CLTA,GNEc.423T>C (p.His141=)
c.153T>C (p.His51=)
c.330T>C (p.His110=)
c.486-16881A>G (n.486-16881A>G)
c.315T>C (p.His105=)
 ClinVar dbSNP
9g.36246317A>TCA373419447CLTA,GNEc.423T>A (p.His141Gln)
c.153T>A (p.His51Gln)
c.330T>A (p.His110Gln)
c.486-16881A>T (n.486-16881A>T)
c.315T>A (p.His105Gln)
9g.36246318T>ACA373419452CLTA,GNEc.422A>T (p.His141Leu)
c.152A>T (p.His51Leu)
c.329A>T (p.His110Leu)
c.486-16880T>A (n.486-16880T>A)
c.314A>T (p.His105Leu)
9g.36246318T>CCA10605885CLTA,GNEc.422A>G (p.His141Arg)
c.152A>G (p.His51Arg)
c.329A>G (p.His110Arg)
c.486-16880T>C (n.486-16880T>C)
c.314A>G (p.His105Arg)
 ClinVar dbSNP gnomAD v4
9g.36246318T>GCA373419459CLTA,GNEc.422A>C (p.His141Pro)
c.152A>C (p.His51Pro)
c.329A>C (p.His110Pro)
c.486-16880T>G (n.486-16880T>G)
c.314A>C (p.His105Pro)
9g.36246318T=CA1846320917CLTA,GNEc.422A= (p.His141=)
c.152A= (p.His51=)
c.329A= (p.His110=)
c.486-16880T= (n.486-16880T=)
c.314A= (p.His105=)
9g.36246319G>ACA373419472CLTA,GNEc.421C>T (p.His141Tyr)
c.151C>T (p.His51Tyr)
c.328C>T (p.His110Tyr)
c.486-16879G>A (n.486-16879G>A)
c.313C>T (p.His105Tyr)
9g.36246319G>CCA373419470CLTA,GNEc.421C>G (p.His141Asp)
c.151C>G (p.His51Asp)
c.328C>G (p.His110Asp)
c.486-16879G>C (n.486-16879G>C)
c.313C>G (p.His105Asp)
 ClinVar dbSNP
9g.36246319G>TCA373419464CLTA,GNEc.421C>A (p.His141Asn)
c.151C>A (p.His51Asn)
c.328C>A (p.His110Asn)
c.486-16879G>T (n.486-16879G>T)
c.313C>A (p.His105Asn)
9g.36246320A=CA1846320923CLTA,GNEc.420T= (p.Val140=)
c.150T= (p.Val50=)
c.327T= (p.Val109=)
c.486-16878A= (n.486-16878A=)
c.312T= (p.Val104=)
9g.36246320A>CCA464619921CLTA,GNEc.420T>G (p.Val140=)
c.150T>G (p.Val50=)
c.327T>G (p.Val109=)
c.486-16878A>C (n.486-16878A>C)
c.312T>G (p.Val104=)
 dbSNP gnomAD v3 gnomAD v4
9g.36246320A>GCA464619923CLTA,GNEc.420T>C (p.Val140=)
c.150T>C (p.Val50=)
c.327T>C (p.Val109=)
c.486-16878A>G (n.486-16878A>G)
c.312T>C (p.Val104=)
9g.36246320A>TCA464619924CLTA,GNEc.420T>A (p.Val140=)
c.150T>A (p.Val50=)
c.327T>A (p.Val109=)
c.486-16878A>T (n.486-16878A>T)
c.312T>A (p.Val104=)
9g.36246321delCA2689947826CLTA,GNEc.420del (p.His141MetfsTer16)
c.150del (p.His51MetfsTer16)
c.327del (p.His110MetfsTer16)
c.486-16877del (n.486-16877del)
c.312del (p.His105MetfsTer16)
 gnomAD v4
9g.36246321A>CCA373419487CLTA,GNEc.419T>G (p.Val140Gly)
c.149T>G (p.Val50Gly)
c.326T>G (p.Val109Gly)
c.486-16877A>C (n.486-16877A>C)
c.311T>G (p.Val104Gly)
9g.36246321A>GCA373419478CLTA,GNEc.419T>C (p.Val140Ala)
c.149T>C (p.Val50Ala)
c.326T>C (p.Val109Ala)
c.486-16877A>G (n.486-16877A>G)
c.311T>C (p.Val104Ala)
9g.36246321A>TCA373419483CLTA,GNEc.419T>A (p.Val140Asp)
c.149T>A (p.Val50Asp)
c.326T>A (p.Val109Asp)
c.486-16877A>T (n.486-16877A>T)
c.311T>A (p.Val104Asp)
9g.36246322C>ACA373419492CLTA,GNEc.418G>T (p.Val140Phe)
c.148G>T (p.Val50Phe)
c.325G>T (p.Val109Phe)
c.486-16876C>A (n.486-16876C>A)
c.310G>T (p.Val104Phe)
9g.36246322C>GCA373419495CLTA,GNEc.418G>C (p.Val140Leu)
c.148G>C (p.Val50Leu)
c.325G>C (p.Val109Leu)
c.486-16876C>G (n.486-16876C>G)
c.310G>C (p.Val104Leu)
9g.36246322C>TCA373419499CLTA,GNEc.418G>A (p.Val140Ile)
c.148G>A (p.Val50Ile)
c.325G>A (p.Val109Ile)
c.486-16876C>T (n.486-16876C>T)
c.310G>A (p.Val104Ile)
 ClinVar dbSNP
9g.36246323A>CCA373419503CLTA,GNEc.417T>G (p.Ile139Met)
c.147T>G (p.Ile49Met)
c.324T>G (p.Ile108Met)
c.486-16875A>C (n.486-16875A>C)
c.309T>G (p.Ile103Met)
9g.36246323A>GCA464619930CLTA,GNEc.417T>C (p.Ile139=)
c.147T>C (p.Ile49=)
c.324T>C (p.Ile108=)
c.486-16875A>G (n.486-16875A>G)
c.309T>C (p.Ile103=)
9g.36246323A>TCA464619928CLTA,GNEc.417T>A (p.Ile139=)
c.147T>A (p.Ile49=)
c.324T>A (p.Ile108=)
c.486-16875A>T (n.486-16875A>T)
c.309T>A (p.Ile103=)
9g.36246324A>CCA373419509CLTA,GNEc.416T>G (p.Ile139Ser)
c.146T>G (p.Ile49Ser)
c.323T>G (p.Ile108Ser)
c.486-16874A>C (n.486-16874A>C)
c.308T>G (p.Ile103Ser)
9g.36246324A>GCA373419512CLTA,GNEc.416T>C (p.Ile139Thr)
c.146T>C (p.Ile49Thr)
c.323T>C (p.Ile108Thr)
c.486-16874A>G (n.486-16874A>G)
c.308T>C (p.Ile103Thr)
 ClinVar dbSNP
9g.36246324A>TCA373419516CLTA,GNEc.416T>A (p.Ile139Asn)
c.146T>A (p.Ile49Asn)
c.323T>A (p.Ile108Asn)
c.486-16874A>T (n.486-16874A>T)
c.308T>A (p.Ile103Asn)
9g.36246325T>ACA373419521CLTA,GNEc.415A>T (p.Ile139Phe)
c.145A>T (p.Ile49Phe)
c.322A>T (p.Ile108Phe)
c.486-16873T>A (n.486-16873T>A)
c.307A>T (p.Ile103Phe)
9g.36246325T>CCA373419524CLTA,GNEc.415A>G (p.Ile139Val)
c.145A>G (p.Ile49Val)
c.322A>G (p.Ile108Val)
c.486-16873T>C (n.486-16873T>C)
c.307A>G (p.Ile103Val)
9g.36246325T>GCA373419529CLTA,GNEc.415A>C (p.Ile139Leu)
c.145A>C (p.Ile49Leu)
c.322A>C (p.Ile108Leu)
c.486-16873T>G (n.486-16873T>G)
c.307A>C (p.Ile103Leu)
9g.36246326C>ACA373419555CLTA,GNEc.414G>T (p.Met138Ile)
c.144G>T (p.Met48Ile)
c.321G>T (p.Met107Ile)
c.486-16872C>A (n.486-16872C>A)
c.306G>T (p.Met102Ile)
9g.36246326C=CA1846320929CLTA,GNEc.414G= (p.Met138=)
c.144G= (p.Met48=)
c.321G= (p.Met107=)
c.486-16872C= (n.486-16872C=)
c.306G= (p.Met102=)
9g.36246326C>GCA373419550CLTA,GNEc.414G>C (p.Met138Ile)
c.144G>C (p.Met48Ile)
c.321G>C (p.Met107Ile)
c.486-16872C>G (n.486-16872C>G)
c.306G>C (p.Met102Ile)
 COSMIC COSMIC COSMIC
9g.36246326C>TCA373419536CLTA,GNEc.414G>A (p.Met138Ile)
c.144G>A (p.Met48Ile)
c.321G>A (p.Met107Ile)
c.486-16872C>T (n.486-16872C>T)
c.306G>A (p.Met102Ile)
 dbSNP gnomAD v2 gnomAD v4
9g.36246327A>CCA373419564CLTA,GNEc.413T>G (p.Met138Arg)
c.143T>G (p.Met48Arg)
c.320T>G (p.Met107Arg)
c.486-16871A>C (n.486-16871A>C)
c.305T>G (p.Met102Arg)
9g.36246327A>GCA373419567CLTA,GNEc.413T>C (p.Met138Thr)
c.143T>C (p.Met48Thr)
c.320T>C (p.Met107Thr)
c.486-16871A>G (n.486-16871A>G)
c.305T>C (p.Met102Thr)
9g.36246327A>TCA373419570CLTA,GNEc.413T>A (p.Met138Lys)
c.143T>A (p.Met48Lys)
c.320T>A (p.Met107Lys)
c.486-16871A>T (n.486-16871A>T)
c.305T>A (p.Met102Lys)
9g.36246328T>ACA373419574CLTA,GNEc.412A>T (p.Met138Leu)
c.142A>T (p.Met48Leu)
c.319A>T (p.Met107Leu)
c.486-16870T>A (n.486-16870T>A)
c.304A>T (p.Met102Leu)
9g.36246328T>CCA373419576CLTA,GNEc.412A>G (p.Met138Val)
c.142A>G (p.Met48Val)
c.319A>G (p.Met107Val)
c.486-16870T>C (n.486-16870T>C)
c.304A>G (p.Met102Val)
 gnomAD v4
9g.36246328T>GCA373419580CLTA,GNEc.412A>C (p.Met138Leu)
c.142A>C (p.Met48Leu)
c.319A>C (p.Met107Leu)
c.486-16870T>G (n.486-16870T>G)
c.304A>C (p.Met102Leu)
9g.36246328T=CA1846320939CLTA,GNEc.412A= (p.Met138=)
c.142A= (p.Met48=)
c.319A= (p.Met107=)
c.486-16870T= (n.486-16870T=)
c.304A= (p.Met102=)
9g.36246329G>ACA464619947CLTA,GNEc.411C>T (p.Ile137=)
c.141C>T (p.Ile47=)
c.318C>T (p.Ile106=)
c.486-16869G>A (n.486-16869G>A)
c.303C>T (p.Ile101=)
9g.36246329G>CCA373419585CLTA,GNEc.411C>G (p.Ile137Met)
c.141C>G (p.Ile47Met)
c.318C>G (p.Ile106Met)
c.486-16869G>C (n.486-16869G>C)
c.303C>G (p.Ile101Met)
9g.36246329G=CA1846320949CLTA,GNEc.411C= (p.Ile137=)
c.141C= (p.Ile47=)
c.318C= (p.Ile106=)
c.486-16869G= (n.486-16869G=)
c.303C= (p.Ile101=)
9g.36246329G>TCA464619951CLTA,GNEc.411C>A (p.Ile137=)
c.141C>A (p.Ile47=)
c.318C>A (p.Ile106=)
c.486-16869G>T (n.486-16869G>T)
c.303C>A (p.Ile101=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36246329dupCA1123252962CLTA,GNEc.411dup (p.Met138HisfsTer9)
c.141dup (p.Met48HisfsTer9)
c.318dup (p.Met107HisfsTer9)
c.486-16869dup (n.486-16869dup)
c.303dup (p.Met102HisfsTer9)
 dbSNP gnomAD v3 gnomAD v4
9g.36246330A=CA1846320950CLTA,GNEc.410T= (p.Ile137=)
c.140T= (p.Ile47=)
c.317T= (p.Ile106=)
c.486-16868A= (n.486-16868A=)
c.302T= (p.Ile101=)
9g.36246330A>CCA373419591CLTA,GNEc.410T>G (p.Ile137Ser)
c.140T>G (p.Ile47Ser)
c.317T>G (p.Ile106Ser)
c.486-16868A>C (n.486-16868A>C)
c.302T>G (p.Ile101Ser)
9g.36246330A>GCA5056733CLTA,GNEc.410T>C (p.Ile137Thr)
c.140T>C (p.Ile47Thr)
c.317T>C (p.Ile106Thr)
c.486-16868A>G (n.486-16868A>G)
c.302T>C (p.Ile101Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246330A>TCA373419599CLTA,GNEc.410T>A (p.Ile137Asn)
c.140T>A (p.Ile47Asn)
c.317T>A (p.Ile106Asn)
c.486-16868A>T (n.486-16868A>T)
c.302T>A (p.Ile101Asn)
9g.36246331T>ACA373419603CLTA,GNEc.409A>T (p.Ile137Phe)
c.139A>T (p.Ile47Phe)
c.316A>T (p.Ile106Phe)
c.486-16867T>A (n.486-16867T>A)
c.301A>T (p.Ile101Phe)
 dbSNP
9g.36246331T>CCA5056734CLTA,GNEc.409A>G (p.Ile137Val)
c.139A>G (p.Ile47Val)
c.316A>G (p.Ile106Val)
c.486-16867T>C (n.486-16867T>C)
c.301A>G (p.Ile101Val)
 dbSNP ExAC
9g.36246331T>GCA373419611CLTA,GNEc.409A>C (p.Ile137Leu)
c.139A>C (p.Ile47Leu)
c.316A>C (p.Ile106Leu)
c.486-16867T>G (n.486-16867T>G)
c.301A>C (p.Ile101Leu)
9g.36246331T=CA1846320951CLTA,GNEc.409A= (p.Ile137=)
c.139A= (p.Ile47=)
c.316A= (p.Ile106=)
c.486-16867T= (n.486-16867T=)
c.301A= (p.Ile101=)
9g.36246331_36246334delinsTATCCA1846320952CLTA,GNEc.406_409delinsGATA (p.Asp136=)
c.136_139delinsGATA (p.Asp46=)
c.313_316delinsGATA (p.Asp105=)
c.486-16867_486-16864delinsTATC (n.486-16867_486-16864delinsTATC)
c.298_301delinsGATA (p.Asp100=)
9g.36246332A=CA1846320957CLTA,GNEc.408T= (p.Asp136=)
c.138T= (p.Asp46=)
c.315T= (p.Asp105=)
c.486-16866A= (n.486-16866A=)
c.300T= (p.Asp100=)
9g.36246332A>CCA373419619CLTA,GNEc.408T>G (p.Asp136Glu)
c.138T>G (p.Asp46Glu)
c.315T>G (p.Asp105Glu)
c.486-16866A>C (n.486-16866A>C)
c.300T>G (p.Asp100Glu)
9g.36246332A>GCA10630085CLTA,GNEc.408T>C (p.Asp136=)
c.138T>C (p.Asp46=)
c.315T>C (p.Asp105=)
c.486-16866A>G (n.486-16866A>G)
c.300T>C (p.Asp100=)
 ClinVar dbSNP
9g.36246332A>TCA373419615CLTA,GNEc.408T>A (p.Asp136Glu)
c.138T>A (p.Asp46Glu)
c.315T>A (p.Asp105Glu)
c.486-16866A>T (n.486-16866A>T)
c.300T>A (p.Asp100Glu)
9g.36246333_36246335delCA1123252967CLTA,GNEc.406_408del (p.Asp136del)
c.136_138del (p.Asp46del)
c.313_315del (p.Asp105del)
c.486-16865_486-16863del (n.486-16865_486-16863del)
c.298_300del (p.Asp100del)
 dbSNP gnomAD v3 gnomAD v4
9g.36246333T>ACA373419626CLTA,GNEc.407A>T (p.Asp136Val)
c.137A>T (p.Asp46Val)
c.314A>T (p.Asp105Val)
c.486-16865T>A (n.486-16865T>A)
c.299A>T (p.Asp100Val)
9g.36246333T>CCA373419631CLTA,GNEc.407A>G (p.Asp136Gly)
c.137A>G (p.Asp46Gly)
c.314A>G (p.Asp105Gly)
c.486-16865T>C (n.486-16865T>C)
c.299A>G (p.Asp100Gly)
 gnomAD v4
9g.36246333T>GCA373419629CLTA,GNEc.407A>C (p.Asp136Ala)
c.137A>C (p.Asp46Ala)
c.314A>C (p.Asp105Ala)
c.486-16865T>G (n.486-16865T>G)
c.299A>C (p.Asp100Ala)
9g.36246334C>ACA373419635CLTA,GNEc.406G>T (p.Asp136Tyr)
c.136G>T (p.Asp46Tyr)
c.313G>T (p.Asp105Tyr)
c.486-16864C>A (n.486-16864C>A)
c.298G>T (p.Asp100Tyr)
9g.36246334C=CA1846320961CLTA,GNEc.406G= (p.Asp136=)
c.136G= (p.Asp46=)
c.313G= (p.Asp105=)
c.486-16864C= (n.486-16864C=)
c.298G= (p.Asp100=)
9g.36246334C>GCA192828341CLTA,GNEc.406G>C (p.Asp136His)
c.136G>C (p.Asp46His)
c.313G>C (p.Asp105His)
c.486-16864C>G (n.486-16864C>G)
c.298G>C (p.Asp100His)
 dbSNP gnomAD v3 gnomAD v4
9g.36246334C>TCA192828348CLTA,GNEc.406G>A (p.Asp136Asn)
c.136G>A (p.Asp46Asn)
c.313G>A (p.Asp105Asn)
c.486-16864C>T (n.486-16864C>T)
c.298G>A (p.Asp100Asn)
 dbSNP
9g.36246335A=CA1846320967CLTA,GNEc.405T= (p.Pro135=)
c.135T= (p.Pro45=)
c.312T= (p.Pro104=)
c.486-16863A= (n.486-16863A=)
c.297T= (p.Pro99=)
9g.36246335A>CCA5056735CLTA,GNEc.405T>G (p.Pro135=)
c.135T>G (p.Pro45=)
c.312T>G (p.Pro104=)
c.486-16863A>C (n.486-16863A>C)
c.297T>G (p.Pro99=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246335A>GCA464619965CLTA,GNEc.405T>C (p.Pro135=)
c.135T>C (p.Pro45=)
c.312T>C (p.Pro104=)
c.486-16863A>G (n.486-16863A>G)
c.297T>C (p.Pro99=)
9g.36246335A>TCA464619967CLTA,GNEc.405T>A (p.Pro135=)
c.135T>A (p.Pro45=)
c.312T>A (p.Pro104=)
c.486-16863A>T (n.486-16863A>T)
c.297T>A (p.Pro99=)
9g.36246336G>ACA373419652CLTA,GNEc.404C>T (p.Pro135Leu)
c.134C>T (p.Pro45Leu)
c.311C>T (p.Pro104Leu)
c.486-16862G>A (n.486-16862G>A)
c.296C>T (p.Pro99Leu)
 dbSNP
9g.36246336G>CCA373419654CLTA,GNEc.404C>G (p.Pro135Arg)
c.134C>G (p.Pro45Arg)
c.311C>G (p.Pro104Arg)
c.486-16862G>C (n.486-16862G>C)
c.296C>G (p.Pro99Arg)
9g.36246336G=CA1846320972CLTA,GNEc.404C= (p.Pro135=)
c.134C= (p.Pro45=)
c.311C= (p.Pro104=)
c.486-16862G= (n.486-16862G=)
c.296C= (p.Pro99=)
9g.36246336G>TCA373419657CLTA,GNEc.404C>A (p.Pro135His)
c.134C>A (p.Pro45His)
c.311C>A (p.Pro104His)
c.486-16862G>T (n.486-16862G>T)
c.296C>A (p.Pro99His)
9g.36246337G>ACA373419661CLTA,GNEc.403C>T (p.Pro135Ser)
c.133C>T (p.Pro45Ser)
c.310C>T (p.Pro104Ser)
c.486-16861G>A (n.486-16861G>A)
c.295C>T (p.Pro99Ser)
9g.36246337G>CCA373419663CLTA,GNEc.403C>G (p.Pro135Ala)
c.133C>G (p.Pro45Ala)
c.310C>G (p.Pro104Ala)
c.486-16861G>C (n.486-16861G>C)
c.295C>G (p.Pro99Ala)
9g.36246337G>TCA373419665CLTA,GNEc.403C>A (p.Pro135Thr)
c.133C>A (p.Pro45Thr)
c.310C>A (p.Pro104Thr)
c.486-16861G>T (n.486-16861G>T)
c.295C>A (p.Pro99Thr)
9g.36246338C>ACA373419673CLTA,GNEc.402G>T (p.Lys134Asn)
c.132G>T (p.Lys44Asn)
c.309G>T (p.Lys103Asn)
c.486-16860C>A (n.486-16860C>A)
c.294G>T (p.Lys98Asn)
 dbSNP gnomAD v2 gnomAD v4
9g.36246338C=CA1846320976CLTA,GNEc.402G= (p.Lys134=)
c.132G= (p.Lys44=)
c.309G= (p.Lys103=)
c.486-16860C= (n.486-16860C=)
c.294G= (p.Lys98=)
9g.36246338C>GCA373419675CLTA,GNEc.402G>C (p.Lys134Asn)
c.132G>C (p.Lys44Asn)
c.309G>C (p.Lys103Asn)
c.486-16860C>G (n.486-16860C>G)
c.294G>C (p.Lys98Asn)
9g.36246338C>TCA464619975CLTA,GNEc.402G>A (p.Lys134=)
c.132G>A (p.Lys44=)
c.309G>A (p.Lys103=)
c.486-16860C>T (n.486-16860C>T)
c.294G>A (p.Lys98=)
 dbSNP gnomAD v2 gnomAD v4
9g.36246339T>ACA373419678CLTA,GNEc.401A>T (p.Lys134Met)
c.131A>T (p.Lys44Met)
c.308A>T (p.Lys103Met)
c.486-16859T>A (n.486-16859T>A)
c.293A>T (p.Lys98Met)
9g.36246339T>CCA373419687CLTA,GNEc.401A>G (p.Lys134Arg)
c.131A>G (p.Lys44Arg)
c.308A>G (p.Lys103Arg)
c.486-16859T>C (n.486-16859T>C)
c.293A>G (p.Lys98Arg)
9g.36246339T>GCA373419681CLTA,GNEc.401A>C (p.Lys134Thr)
c.131A>C (p.Lys44Thr)
c.308A>C (p.Lys103Thr)
c.486-16859T>G (n.486-16859T>G)
c.293A>C (p.Lys98Thr)
9g.36246340T>ACA373419692CLTA,GNEc.400A>T (p.Lys134Ter)
c.130A>T (p.Lys44Ter)
c.307A>T (p.Lys103Ter)
c.486-16858T>A (n.486-16858T>A)
c.292A>T (p.Lys98Ter)
9g.36246340T>CCA373419694CLTA,GNEc.400A>G (p.Lys134Glu)
c.130A>G (p.Lys44Glu)
c.307A>G (p.Lys103Glu)
c.486-16858T>C (n.486-16858T>C)
c.292A>G (p.Lys98Glu)
9g.36246340T>GCA373419696CLTA,GNEc.400A>C (p.Lys134Gln)
c.130A>C (p.Lys44Gln)
c.307A>C (p.Lys103Gln)
c.486-16858T>G (n.486-16858T>G)
c.292A>C (p.Lys98Gln)
9g.36246341C>ACA464619984CLTA,GNEc.399G>T (p.Leu133=)
c.129G>T (p.Leu43=)
c.306G>T (p.Leu102=)
c.486-16857C>A (n.486-16857C>A)
c.291G>T (p.Leu97=)
9g.36246341C=CA1846320979CLTA,GNEc.399G= (p.Leu133=)
c.129G= (p.Leu43=)
c.306G= (p.Leu102=)
c.486-16857C= (n.486-16857C=)
c.291G= (p.Leu97=)
9g.36246341C>GCA464619982CLTA,GNEc.399G>C (p.Leu133=)
c.129G>C (p.Leu43=)
c.306G>C (p.Leu102=)
c.486-16857C>G (n.486-16857C>G)
c.291G>C (p.Leu97=)
9g.36246341C>TCA5056736CLTA,GNEc.399G>A (p.Leu133=)
c.129G>A (p.Leu43=)
c.306G>A (p.Leu102=)
c.486-16857C>T (n.486-16857C>T)
c.291G>A (p.Leu97=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246342A=CA1846320983CLTA,GNEc.398T= (p.Leu133=)
c.128T= (p.Leu43=)
c.305T= (p.Leu102=)
c.486-16856A= (n.486-16856A=)
c.290T= (p.Leu97=)
9g.36246342A>CCA373419702CLTA,GNEc.398T>G (p.Leu133Arg)
c.128T>G (p.Leu43Arg)
c.305T>G (p.Leu102Arg)
c.486-16856A>C (n.486-16856A>C)
c.290T>G (p.Leu97Arg)
9g.36246342A>GCA5056737CLTA,GNEc.398T>C (p.Leu133Pro)
c.128T>C (p.Leu43Pro)
c.305T>C (p.Leu102Pro)
c.486-16856A>G (n.486-16856A>G)
c.290T>C (p.Leu97Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246342A>TCA373419706CLTA,GNEc.398T>A (p.Leu133Gln)
c.128T>A (p.Leu43Gln)
c.305T>A (p.Leu102Gln)
c.486-16856A>T (n.486-16856A>T)
c.290T>A (p.Leu97Gln)
9g.36246343G>ACA464619987CLTA,GNEc.397C>T (p.Leu133=)
c.127C>T (p.Leu43=)
c.304C>T (p.Leu102=)
c.486-16855G>A (n.486-16855G>A)
c.289C>T (p.Leu97=)
 gnomAD v4
9g.36246343G>CCA373419710CLTA,GNEc.397C>G (p.Leu133Val)
c.127C>G (p.Leu43Val)
c.304C>G (p.Leu102Val)
c.486-16855G>C (n.486-16855G>C)
c.289C>G (p.Leu97Val)
9g.36246343G>TCA373419711CLTA,GNEc.397C>A (p.Leu133Met)
c.127C>A (p.Leu43Met)
c.304C>A (p.Leu102Met)
c.486-16855G>T (n.486-16855G>T)
c.289C>A (p.Leu97Met)
9g.36246344G>ACA464619989CLTA,GNEc.396C>T (p.Arg132=)
c.126C>T (p.Arg42=)
c.303C>T (p.Arg101=)
c.486-16854G>A (n.486-16854G>A)
c.288C>T (p.Arg96=)
9g.36246344G>CCA464619991CLTA,GNEc.396C>G (p.Arg132=)
c.126C>G (p.Arg42=)
c.303C>G (p.Arg101=)
c.486-16854G>C (n.486-16854G>C)
c.288C>G (p.Arg96=)
 ClinVar gnomAD v4
9g.36246344G>TCA464619992CLTA,GNEc.396C>A (p.Arg132=)
c.126C>A (p.Arg42=)
c.303C>A (p.Arg101=)
c.486-16854G>T (n.486-16854G>T)
c.288C>A (p.Arg96=)
9g.36246345delCA2689947827CLTA,GNEc.395del (p.Arg132ProfsTer2)
c.125del (p.Arg42ProfsTer2)
c.302del (p.Arg101ProfsTer2)
c.486-16853del (n.486-16853del)
c.287del (p.Arg96ProfsTer2)
 gnomAD v4
9g.36246345C>ACA373419712CLTA,GNEc.395G>T (p.Arg132Leu)
c.125G>T (p.Arg42Leu)
c.302G>T (p.Arg101Leu)
c.486-16853C>A (n.486-16853C>A)
c.287G>T (p.Arg96Leu)
 gnomAD v4
9g.36246345C=CA1846320990CLTA,GNEc.395G= (p.Arg132=)
c.125G= (p.Arg42=)
c.302G= (p.Arg101=)
c.486-16853C= (n.486-16853C=)
c.287G= (p.Arg96=)
9g.36246345C>GCA373419713CLTA,GNEc.395G>C (p.Arg132Pro)
c.125G>C (p.Arg42Pro)
c.302G>C (p.Arg101Pro)
c.486-16853C>G (n.486-16853C>G)
c.287G>C (p.Arg96Pro)
 ClinVar
9g.36246345C>TCA5056738CLTA,GNEc.395G>A (p.Arg132His)
c.125G>A (p.Arg42His)
c.302G>A (p.Arg101His)
c.486-16853C>T (n.486-16853C>T)
c.287G>A (p.Arg96His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246346G>ACA5056739CLTA,GNEc.394C>T (p.Arg132Cys)
c.124C>T (p.Arg42Cys)
c.301C>T (p.Arg101Cys)
c.486-16852G>A (n.486-16852G>A)
c.286C>T (p.Arg96Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246346G>CCA373419714CLTA,GNEc.394C>G (p.Arg132Gly)
c.124C>G (p.Arg42Gly)
c.301C>G (p.Arg101Gly)
c.486-16852G>C (n.486-16852G>C)
c.286C>G (p.Arg96Gly)
9g.36246346G=CA1846320995CLTA,GNEc.394C= (p.Arg132=)
c.124C= (p.Arg42=)
c.301C= (p.Arg101=)
c.486-16852G= (n.486-16852G=)
c.286C= (p.Arg96=)
9g.36246346G>TCA373419715CLTA,GNEc.394C>A (p.Arg132Ser)
c.124C>A (p.Arg42Ser)
c.301C>A (p.Arg101Ser)
c.486-16852G>T (n.486-16852G>T)
c.286C>A (p.Arg96Ser)
9g.36246347A>CCA373419716CLTA,GNEc.393T>G (p.Asn131Lys)
c.123T>G (p.Asn41Lys)
c.300T>G (p.Asn100Lys)
c.486-16851A>C (n.486-16851A>C)
c.285T>G (p.Asn95Lys)
9g.36246347A>GCA464620001CLTA,GNEc.393T>C (p.Asn131=)
c.123T>C (p.Asn41=)
c.300T>C (p.Asn100=)
c.486-16851A>G (n.486-16851A>G)
c.285T>C (p.Asn95=)
9g.36246347A>TCA373419717CLTA,GNEc.393T>A (p.Asn131Lys)
c.123T>A (p.Asn41Lys)
c.300T>A (p.Asn100Lys)
c.486-16851A>T (n.486-16851A>T)
c.285T>A (p.Asn95Lys)
9g.36246348T>ACA373419720CLTA,GNEc.392A>T (p.Asn131Ile)
c.122A>T (p.Asn41Ile)
c.299A>T (p.Asn100Ile)
c.486-16850T>A (n.486-16850T>A)
c.284A>T (p.Asn95Ile)
9g.36246348T>CCA373419718CLTA,GNEc.392A>G (p.Asn131Ser)
c.122A>G (p.Asn41Ser)
c.299A>G (p.Asn100Ser)
c.486-16850T>C (n.486-16850T>C)
c.284A>G (p.Asn95Ser)
9g.36246348T>GCA373419719CLTA,GNEc.392A>C (p.Asn131Thr)
c.122A>C (p.Asn41Thr)
c.299A>C (p.Asn100Thr)
c.486-16850T>G (n.486-16850T>G)
c.284A>C (p.Asn95Thr)

Number of alleles fetched