Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36245961_36246193delinsCTACA2573144542CLTA,GNEc.547_709+70delinsTAG
c.277_439+70delinsTAG
c.454_616+70delinsTAG
c.486-17237_486-17005delinsCTA (n.486-17237_486-17005delinsCTA)
c.439_601+70delinsTAG
 ClinVar dbSNP
9g.36246043G>ACA5056706CLTA,GNEc.697C>T (p.Arg233Cys)
c.427C>T (p.Arg143Cys)
c.604C>T (p.Arg202Cys)
c.486-17155G>A (n.486-17155G>A)
c.589C>T (p.Arg197Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246043G>CCA373417982CLTA,GNEc.697C>G (p.Arg233Gly)
c.427C>G (p.Arg143Gly)
c.604C>G (p.Arg202Gly)
c.486-17155G>C (n.486-17155G>C)
c.589C>G (p.Arg197Gly)
9g.36246043G=CA1846375060CLTA,GNEc.697C= (p.Arg233=)
c.427C= (p.Arg143=)
c.604C= (p.Arg202=)
c.486-17155G= (n.486-17155G=)
c.589C= (p.Arg197=)
9g.36246043G>TCA373417983CLTA,GNEc.697C>A (p.Arg233Ser)
c.427C>A (p.Arg143Ser)
c.604C>A (p.Arg202Ser)
c.486-17155G>T (n.486-17155G>T)
c.589C>A (p.Arg197Ser)
9g.36246045_36246048dupCA10603834CLTA,GNEc.694_697dup (p.Arg233HisfsTer7)
c.424_427dup (p.Arg143HisfsTer7)
c.601_604dup (p.Arg202HisfsTer7)
c.486-17153_486-17150dup (n.486-17153_486-17150dup)
c.424_427dup (p.Arg143HisfsTer20)
c.586_589dup (p.Arg197HisfsTer7)
c.694_697dup (p.Arg233HisfsTer20)
c.601_604dup (p.Arg202HisfsTer20)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246044A>CCA373417984CLTA,GNEc.696T>G (p.Ile232Met)
c.426T>G (p.Ile142Met)
c.603T>G (p.Ile201Met)
c.486-17154A>C (n.486-17154A>C)
c.588T>G (p.Ile196Met)
9g.36246044A>GCA464619596CLTA,GNEc.696T>C (p.Ile232=)
c.426T>C (p.Ile142=)
c.603T>C (p.Ile201=)
c.486-17154A>G (n.486-17154A>G)
c.588T>C (p.Ile196=)
9g.36246044A>TCA464619597CLTA,GNEc.696T>A (p.Ile232=)
c.426T>A (p.Ile142=)
c.603T>A (p.Ile201=)
c.486-17154A>T (n.486-17154A>T)
c.588T>A (p.Ile196=)
9g.36246045A=CA1846375070CLTA,GNEc.695T= (p.Ile232=)
c.425T= (p.Ile142=)
c.602T= (p.Ile201=)
c.486-17153A= (n.486-17153A=)
c.587T= (p.Ile196=)
9g.36246045A>CCA373417985CLTA,GNEc.695T>G (p.Ile232Ser)
c.425T>G (p.Ile142Ser)
c.602T>G (p.Ile201Ser)
c.486-17153A>C (n.486-17153A>C)
c.587T>G (p.Ile196Ser)
9g.36246045A>GCA373417986CLTA,GNEc.695T>C (p.Ile232Thr)
c.425T>C (p.Ile142Thr)
c.602T>C (p.Ile201Thr)
c.486-17153A>G (n.486-17153A>G)
c.587T>C (p.Ile196Thr)
9g.36246045A>TCA373417987CLTA,GNEc.695T>A (p.Ile232Asn)
c.425T>A (p.Ile142Asn)
c.602T>A (p.Ile201Asn)
c.486-17153A>T (n.486-17153A>T)
c.587T>A (p.Ile196Asn)
 ClinVar dbSNP gnomAD v4
9g.36246046T>ACA373417988CLTA,GNEc.694A>T (p.Ile232Phe)
c.424A>T (p.Ile142Phe)
c.601A>T (p.Ile201Phe)
c.486-17152T>A (n.486-17152T>A)
c.586A>T (p.Ile196Phe)
9g.36246046T>CCA5056707CLTA,GNEc.694A>G (p.Ile232Val)
c.424A>G (p.Ile142Val)
c.601A>G (p.Ile201Val)
c.486-17152T>C (n.486-17152T>C)
c.586A>G (p.Ile196Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246046T>GCA373417989CLTA,GNEc.694A>C (p.Ile232Leu)
c.424A>C (p.Ile142Leu)
c.601A>C (p.Ile201Leu)
c.486-17152T>G (n.486-17152T>G)
c.586A>C (p.Ile196Leu)
9g.36246046T=CA1846375078CLTA,GNEc.694A= (p.Ile232=)
c.424A= (p.Ile142=)
c.601A= (p.Ile201=)
c.486-17152T= (n.486-17152T=)
c.586A= (p.Ile196=)
9g.36246047G>ACA202360CLTA,GNEc.693C>T (p.Ile231=)
c.423C>T (p.Ile141=)
c.600C>T (p.Ile200=)
c.486-17151G>A (n.486-17151G>A)
c.585C>T (p.Ile195=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246047G>CCA373417990CLTA,GNEc.693C>G (p.Ile231Met)
c.423C>G (p.Ile141Met)
c.600C>G (p.Ile200Met)
c.486-17151G>C (n.486-17151G>C)
c.585C>G (p.Ile195Met)
9g.36246047G=CA1846375088CLTA,GNEc.693C= (p.Ile231=)
c.423C= (p.Ile141=)
c.600C= (p.Ile200=)
c.486-17151G= (n.486-17151G=)
c.585C= (p.Ile195=)
9g.36246047G>TCA464619607CLTA,GNEc.693C>A (p.Ile231=)
c.423C>A (p.Ile141=)
c.600C>A (p.Ile200=)
c.486-17151G>T (n.486-17151G>T)
c.585C>A (p.Ile195=)
9g.36246048A>CCA373417991CLTA,GNEc.692T>G (p.Ile231Ser)
c.422T>G (p.Ile141Ser)
c.599T>G (p.Ile200Ser)
c.486-17150A>C (n.486-17150A>C)
c.584T>G (p.Ile195Ser)
9g.36246048A>GCA373417993CLTA,GNEc.692T>C (p.Ile231Thr)
c.422T>C (p.Ile141Thr)
c.599T>C (p.Ile200Thr)
c.486-17150A>G (n.486-17150A>G)
c.584T>C (p.Ile195Thr)
9g.36246048A>TCA373417992CLTA,GNEc.692T>A (p.Ile231Asn)
c.422T>A (p.Ile141Asn)
c.599T>A (p.Ile200Asn)
c.486-17150A>T (n.486-17150A>T)
c.584T>A (p.Ile195Asn)
9g.36246049T>ACA5056708CLTA,GNEc.691A>T (p.Ile231Phe)
c.421A>T (p.Ile141Phe)
c.598A>T (p.Ile200Phe)
c.486-17149T>A (n.486-17149T>A)
c.583A>T (p.Ile195Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246049T>CCA373417994CLTA,GNEc.691A>G (p.Ile231Val)
c.421A>G (p.Ile141Val)
c.598A>G (p.Ile200Val)
c.486-17149T>C (n.486-17149T>C)
c.583A>G (p.Ile195Val)
 dbSNP gnomAD v2 gnomAD v4
9g.36246049T>GCA373417995CLTA,GNEc.691A>C (p.Ile231Leu)
c.421A>C (p.Ile141Leu)
c.598A>C (p.Ile200Leu)
c.486-17149T>G (n.486-17149T>G)
c.583A>C (p.Ile195Leu)
9g.36246049T=CA1846375097CLTA,GNEc.691A= (p.Ile231=)
c.421A= (p.Ile141=)
c.598A= (p.Ile200=)
c.486-17149T= (n.486-17149T=)
c.583A= (p.Ile195=)
9g.36246050G>ACA464619609CLTA,GNEc.690C>T (p.Ser230=)
c.420C>T (p.Ser140=)
c.597C>T (p.Ser199=)
c.486-17148G>A (n.486-17148G>A)
c.582C>T (p.Ser194=)
 ClinVar gnomAD v4
9g.36246050G>CCA373417996CLTA,GNEc.690C>G (p.Ser230Arg)
c.420C>G (p.Ser140Arg)
c.597C>G (p.Ser199Arg)
c.486-17148G>C (n.486-17148G>C)
c.582C>G (p.Ser194Arg)
9g.36246050G=CA1846375101CLTA,GNEc.690C= (p.Ser230=)
c.420C= (p.Ser140=)
c.597C= (p.Ser199=)
c.486-17148G= (n.486-17148G=)
c.582C= (p.Ser194=)
9g.36246050G>TCA373417997CLTA,GNEc.690C>A (p.Ser230Arg)
c.420C>A (p.Ser140Arg)
c.597C>A (p.Ser199Arg)
c.486-17148G>T (n.486-17148G>T)
c.582C>A (p.Ser194Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246051C>ACA373418000CLTA,GNEc.689G>T (p.Ser230Ile)
c.419G>T (p.Ser140Ile)
c.596G>T (p.Ser199Ile)
c.486-17147C>A (n.486-17147C>A)
c.581G>T (p.Ser194Ile)
 COSMIC COSMIC COSMIC
9g.36246051C>GCA373417999CLTA,GNEc.689G>C (p.Ser230Thr)
c.419G>C (p.Ser140Thr)
c.596G>C (p.Ser199Thr)
c.486-17147C>G (n.486-17147C>G)
c.581G>C (p.Ser194Thr)
9g.36246051C>TCA373417998CLTA,GNEc.689G>A (p.Ser230Asn)
c.419G>A (p.Ser140Asn)
c.596G>A (p.Ser199Asn)
c.486-17147C>T (n.486-17147C>T)
c.581G>A (p.Ser194Asn)
9g.36246052T>ACA373418001CLTA,GNEc.688A>T (p.Ser230Cys)
c.418A>T (p.Ser140Cys)
c.595A>T (p.Ser199Cys)
c.486-17146T>A (n.486-17146T>A)
c.580A>T (p.Ser194Cys)
9g.36246052T>CCA373418002CLTA,GNEc.688A>G (p.Ser230Gly)
c.418A>G (p.Ser140Gly)
c.595A>G (p.Ser199Gly)
c.486-17146T>C (n.486-17146T>C)
c.580A>G (p.Ser194Gly)
 gnomAD v4
9g.36246052T>GCA373418003CLTA,GNEc.688A>C (p.Ser230Arg)
c.418A>C (p.Ser140Arg)
c.595A>C (p.Ser199Arg)
c.486-17146T>G (n.486-17146T>G)
c.580A>C (p.Ser194Arg)
9g.36246053C>ACA373418004CLTA,GNEc.687G>T (p.Met229Ile)
c.417G>T (p.Met139Ile)
c.594G>T (p.Met198Ile)
c.486-17145C>A (n.486-17145C>A)
c.579G>T (p.Met193Ile)
9g.36246053C=CA1846375105CLTA,GNEc.687G= (p.Met229=)
c.417G= (p.Met139=)
c.594G= (p.Met198=)
c.486-17145C= (n.486-17145C=)
c.579G= (p.Met193=)
9g.36246053C>GCA373418005CLTA,GNEc.687G>C (p.Met229Ile)
c.417G>C (p.Met139Ile)
c.594G>C (p.Met198Ile)
c.486-17145C>G (n.486-17145C>G)
c.579G>C (p.Met193Ile)
9g.36246053C>TCA373418006CLTA,GNEc.687G>A (p.Met229Ile)
c.417G>A (p.Met139Ile)
c.594G>A (p.Met198Ile)
c.486-17145C>T (n.486-17145C>T)
c.579G>A (p.Met193Ile)
 ClinVar dbSNP
9g.36246054A=CA1846375111CLTA,GNEc.686T= (p.Met229=)
c.416T= (p.Met139=)
c.593T= (p.Met198=)
c.486-17144A= (n.486-17144A=)
c.578T= (p.Met193=)
9g.36246054A>CCA373418007CLTA,GNEc.686T>G (p.Met229Arg)
c.416T>G (p.Met139Arg)
c.593T>G (p.Met198Arg)
c.486-17144A>C (n.486-17144A>C)
c.578T>G (p.Met193Arg)
 dbSNP gnomAD v4
9g.36246054A>GCA5056709CLTA,GNEc.686T>C (p.Met229Thr)
c.416T>C (p.Met139Thr)
c.593T>C (p.Met198Thr)
c.486-17144A>G (n.486-17144A>G)
c.578T>C (p.Met193Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
9g.36246054A>TCA373418008CLTA,GNEc.686T>A (p.Met229Lys)
c.416T>A (p.Met139Lys)
c.593T>A (p.Met198Lys)
c.486-17144A>T (n.486-17144A>T)
c.578T>A (p.Met193Lys)
 gnomAD v4
9g.36246055T>ACA373418009CLTA,GNEc.685A>T (p.Met229Leu)
c.415A>T (p.Met139Leu)
c.592A>T (p.Met198Leu)
c.486-17143T>A (n.486-17143T>A)
c.577A>T (p.Met193Leu)
9g.36246055T>CCA373418010CLTA,GNEc.685A>G (p.Met229Val)
c.415A>G (p.Met139Val)
c.592A>G (p.Met198Val)
c.486-17143T>C (n.486-17143T>C)
c.577A>G (p.Met193Val)
 gnomAD v2 gnomAD v4
9g.36246055T>GCA373418011CLTA,GNEc.685A>C (p.Met229Leu)
c.415A>C (p.Met139Leu)
c.592A>C (p.Met198Leu)
c.486-17143T>G (n.486-17143T>G)
c.577A>C (p.Met193Leu)
9g.36246056G>ACA464619629CLTA,GNEc.684C>T (p.Tyr228=)
c.414C>T (p.Tyr138=)
c.591C>T (p.Tyr197=)
c.486-17142G>A (n.486-17142G>A)
c.576C>T (p.Tyr192=)
 ClinVar dbSNP
9g.36246056G>CCA373418012CLTA,GNEc.684C>G (p.Tyr228Ter)
c.414C>G (p.Tyr138Ter)
c.591C>G (p.Tyr197Ter)
c.486-17142G>C (n.486-17142G>C)
c.576C>G (p.Tyr192Ter)
9g.36246056G>TCA373418013CLTA,GNEc.684C>A (p.Tyr228Ter)
c.414C>A (p.Tyr138Ter)
c.591C>A (p.Tyr197Ter)
c.486-17142G>T (n.486-17142G>T)
c.576C>A (p.Tyr192Ter)
9g.36246057T>ACA373418014CLTA,GNEc.683A>T (p.Tyr228Phe)
c.413A>T (p.Tyr138Phe)
c.590A>T (p.Tyr197Phe)
c.486-17141T>A (n.486-17141T>A)
c.575A>T (p.Tyr192Phe)
9g.36246057T>CCA373418015CLTA,GNEc.683A>G (p.Tyr228Cys)
c.413A>G (p.Tyr138Cys)
c.590A>G (p.Tyr197Cys)
c.486-17141T>C (n.486-17141T>C)
c.575A>G (p.Tyr192Cys)
 gnomAD v4
9g.36246057T>GCA373418016CLTA,GNEc.683A>C (p.Tyr228Ser)
c.413A>C (p.Tyr138Ser)
c.590A>C (p.Tyr197Ser)
c.486-17141T>G (n.486-17141T>G)
c.575A>C (p.Tyr192Ser)
9g.36246058A>CCA373418017CLTA,GNEc.682T>G (p.Tyr228Asp)
c.412T>G (p.Tyr138Asp)
c.589T>G (p.Tyr197Asp)
c.486-17140A>C (n.486-17140A>C)
c.574T>G (p.Tyr192Asp)
9g.36246058A>GCA373418018CLTA,GNEc.682T>C (p.Tyr228His)
c.412T>C (p.Tyr138His)
c.589T>C (p.Tyr197His)
c.486-17140A>G (n.486-17140A>G)
c.574T>C (p.Tyr192His)
9g.36246058A>TCA373418019CLTA,GNEc.682T>A (p.Tyr228Asn)
c.412T>A (p.Tyr138Asn)
c.589T>A (p.Tyr197Asn)
c.486-17140A>T (n.486-17140A>T)
c.574T>A (p.Tyr192Asn)
9g.36246059G>ACA464619634CLTA,GNEc.681C>T (p.Asp227=)
c.411C>T (p.Asp137=)
c.588C>T (p.Asp196=)
c.486-17139G>A (n.486-17139G>A)
c.573C>T (p.Asp191=)
 ClinVar
9g.36246059G>CCA373418020CLTA,GNEc.681C>G (p.Asp227Glu)
c.411C>G (p.Asp137Glu)
c.588C>G (p.Asp196Glu)
c.486-17139G>C (n.486-17139G>C)
c.573C>G (p.Asp191Glu)
9g.36246059G>TCA373418021CLTA,GNEc.681C>A (p.Asp227Glu)
c.411C>A (p.Asp137Glu)
c.588C>A (p.Asp196Glu)
c.486-17139G>T (n.486-17139G>T)
c.573C>A (p.Asp191Glu)
9g.36246059dupCA2689947822CLTA,GNEc.681dup (p.Tyr228LeufsTer11)
c.411dup (p.Tyr138LeufsTer11)
c.588dup (p.Tyr197LeufsTer11)
c.486-17139dup (n.486-17139dup)
c.411dup (p.Tyr138LeufsTer24)
c.573dup (p.Tyr192LeufsTer11)
c.681dup (p.Tyr228LeufsTer24)
c.588dup (p.Tyr197LeufsTer24)
 gnomAD v4
9g.36246060T>ACA373418022CLTA,GNEc.680A>T (p.Asp227Val)
c.410A>T (p.Asp137Val)
c.587A>T (p.Asp196Val)
c.486-17138T>A (n.486-17138T>A)
c.572A>T (p.Asp191Val)
9g.36246060T>CCA373418024CLTA,GNEc.680A>G (p.Asp227Gly)
c.410A>G (p.Asp137Gly)
c.587A>G (p.Asp196Gly)
c.486-17138T>C (n.486-17138T>C)
c.572A>G (p.Asp191Gly)
9g.36246060T>GCA373418023CLTA,GNEc.680A>C (p.Asp227Ala)
c.410A>C (p.Asp137Ala)
c.587A>C (p.Asp196Ala)
c.486-17138T>G (n.486-17138T>G)
c.572A>C (p.Asp191Ala)
9g.36246061C>ACA373418025CLTA,GNEc.679G>T (p.Asp227Tyr)
c.409G>T (p.Asp137Tyr)
c.586G>T (p.Asp196Tyr)
c.486-17137C>A (n.486-17137C>A)
c.571G>T (p.Asp191Tyr)
9g.36246061C>GCA373418026CLTA,GNEc.679G>C (p.Asp227His)
c.409G>C (p.Asp137His)
c.586G>C (p.Asp196His)
c.486-17137C>G (n.486-17137C>G)
c.571G>C (p.Asp191His)
 ClinVar dbSNP
9g.36246061C>TCA373418027CLTA,GNEc.679G>A (p.Asp227Asn)
c.409G>A (p.Asp137Asn)
c.586G>A (p.Asp196Asn)
c.486-17137C>T (n.486-17137C>T)
c.571G>A (p.Asp191Asn)
9g.36246062T>ACA373418028CLTA,GNEc.678A>T (p.Lys226Asn)
c.408A>T (p.Lys136Asn)
c.585A>T (p.Lys195Asn)
c.486-17136T>A (n.486-17136T>A)
c.570A>T (p.Lys190Asn)
9g.36246062T>CCA464619643CLTA,GNEc.678A>G (p.Lys226=)
c.408A>G (p.Lys136=)
c.585A>G (p.Lys195=)
c.486-17136T>C (n.486-17136T>C)
c.570A>G (p.Lys190=)
9g.36246062T>GCA373418029CLTA,GNEc.678A>C (p.Lys226Asn)
c.408A>C (p.Lys136Asn)
c.585A>C (p.Lys195Asn)
c.486-17136T>G (n.486-17136T>G)
c.570A>C (p.Lys190Asn)
9g.36246063T>ACA373418030CLTA,GNEc.677A>T (p.Lys226Ile)
c.407A>T (p.Lys136Ile)
c.584A>T (p.Lys195Ile)
c.486-17135T>A (n.486-17135T>A)
c.569A>T (p.Lys190Ile)
9g.36246063T>CCA373418031CLTA,GNEc.677A>G (p.Lys226Arg)
c.407A>G (p.Lys136Arg)
c.584A>G (p.Lys195Arg)
c.486-17135T>C (n.486-17135T>C)
c.569A>G (p.Lys190Arg)
9g.36246063T>GCA373418032CLTA,GNEc.677A>C (p.Lys226Thr)
c.407A>C (p.Lys136Thr)
c.584A>C (p.Lys195Thr)
c.486-17135T>G (n.486-17135T>G)
c.569A>C (p.Lys190Thr)
9g.36246064T>ACA373418033CLTA,GNEc.676A>T (p.Lys226Ter)
c.406A>T (p.Lys136Ter)
c.583A>T (p.Lys195Ter)
c.486-17134T>A (n.486-17134T>A)
c.568A>T (p.Lys190Ter)
9g.36246064T>CCA373418034CLTA,GNEc.676A>G (p.Lys226Glu)
c.406A>G (p.Lys136Glu)
c.583A>G (p.Lys195Glu)
c.486-17134T>C (n.486-17134T>C)
c.568A>G (p.Lys190Glu)
 dbSNP
9g.36246064T>GCA373418035CLTA,GNEc.676A>C (p.Lys226Gln)
c.406A>C (p.Lys136Gln)
c.583A>C (p.Lys195Gln)
c.486-17134T>G (n.486-17134T>G)
c.568A>C (p.Lys190Gln)
9g.36246064T=CA1846375117CLTA,GNEc.676A= (p.Lys226=)
c.406A= (p.Lys136=)
c.583A= (p.Lys195=)
c.486-17134T= (n.486-17134T=)
c.568A= (p.Lys190=)
9g.36246065G>ACA5056710CLTA,GNEc.675C>T (p.Asn225=)
c.405C>T (p.Asn135=)
c.582C>T (p.Asn194=)
c.486-17133G>A (n.486-17133G>A)
c.567C>T (p.Asn189=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246065G>CCA373418038CLTA,GNEc.675C>G (p.Asn225Lys)
c.405C>G (p.Asn135Lys)
c.582C>G (p.Asn194Lys)
c.486-17133G>C (n.486-17133G>C)
c.567C>G (p.Asn189Lys)
9g.36246065G=CA1846375124CLTA,GNEc.675C= (p.Asn225=)
c.405C= (p.Asn135=)
c.582C= (p.Asn194=)
c.486-17133G= (n.486-17133G=)
c.567C= (p.Asn189=)
9g.36246065G>TCA373418040CLTA,GNEc.675C>A (p.Asn225Lys)
c.405C>A (p.Asn135Lys)
c.582C>A (p.Asn194Lys)
c.486-17133G>T (n.486-17133G>T)
c.567C>A (p.Asn189Lys)
9g.36246066T>ACA373418043CLTA,GNEc.674A>T (p.Asn225Ile)
c.404A>T (p.Asn135Ile)
c.581A>T (p.Asn194Ile)
c.486-17132T>A (n.486-17132T>A)
c.566A>T (p.Asn189Ile)
9g.36246066T>CCA373418045CLTA,GNEc.674A>G (p.Asn225Ser)
c.404A>G (p.Asn135Ser)
c.581A>G (p.Asn194Ser)
c.486-17132T>C (n.486-17132T>C)
c.566A>G (p.Asn189Ser)
9g.36246066T>GCA373418046CLTA,GNEc.674A>C (p.Asn225Thr)
c.404A>C (p.Asn135Thr)
c.581A>C (p.Asn194Thr)
c.486-17132T>G (n.486-17132T>G)
c.566A>C (p.Asn189Thr)
 dbSNP
9g.36246066T=CA1846375129CLTA,GNEc.674A= (p.Asn225=)
c.404A= (p.Asn135=)
c.581A= (p.Asn194=)
c.486-17132T= (n.486-17132T=)
c.566A= (p.Asn189=)
9g.36246067delCA2695210604CLTA,GNEc.674del (p.Asn225ThrfsTer5)
c.404del (p.Asn135ThrfsTer5)
c.581del (p.Asn194ThrfsTer5)
c.486-17131del (n.486-17131del)
c.566del (p.Asn189ThrfsTer5)
9g.36246067T>ACA373418049CLTA,GNEc.673A>T (p.Asn225Tyr)
c.403A>T (p.Asn135Tyr)
c.580A>T (p.Asn194Tyr)
c.486-17131T>A (n.486-17131T>A)
c.565A>T (p.Asn189Tyr)
9g.36246067T>CCA373418051CLTA,GNEc.673A>G (p.Asn225Asp)
c.403A>G (p.Asn135Asp)
c.580A>G (p.Asn194Asp)
c.486-17131T>C (n.486-17131T>C)
c.565A>G (p.Asn189Asp)
9g.36246067T>GCA373418053CLTA,GNEc.673A>C (p.Asn225His)
c.403A>C (p.Asn135His)
c.580A>C (p.Asn194His)
c.486-17131T>G (n.486-17131T>G)
c.565A>C (p.Asn189His)
9g.36246068C>ACA373418055CLTA,GNEc.672G>T (p.Lys224Asn)
c.402G>T (p.Lys134Asn)
c.579G>T (p.Lys193Asn)
c.486-17130C>A (n.486-17130C>A)
c.564G>T (p.Lys188Asn)
9g.36246068C>GCA373418056CLTA,GNEc.672G>C (p.Lys224Asn)
c.402G>C (p.Lys134Asn)
c.579G>C (p.Lys193Asn)
c.486-17130C>G (n.486-17130C>G)
c.564G>C (p.Lys188Asn)
9g.36246068C>TCA464619657CLTA,GNEc.672G>A (p.Lys224=)
c.402G>A (p.Lys134=)
c.579G>A (p.Lys193=)
c.486-17130C>T (n.486-17130C>T)
c.564G>A (p.Lys188=)
9g.36246069T>ACA373418059CLTA,GNEc.671A>T (p.Lys224Met)
c.401A>T (p.Lys134Met)
c.578A>T (p.Lys193Met)
c.486-17129T>A (n.486-17129T>A)
c.563A>T (p.Lys188Met)
9g.36246069T>CCA373418061CLTA,GNEc.671A>G (p.Lys224Arg)
c.401A>G (p.Lys134Arg)
c.578A>G (p.Lys193Arg)
c.486-17129T>C (n.486-17129T>C)
c.563A>G (p.Lys188Arg)
9g.36246069T>GCA373418063CLTA,GNEc.671A>C (p.Lys224Thr)
c.401A>C (p.Lys134Thr)
c.578A>C (p.Lys193Thr)
c.486-17129T>G (n.486-17129T>G)
c.563A>C (p.Lys188Thr)
9g.36246070T>ACA373418067CLTA,GNEc.670A>T (p.Lys224Ter)
c.400A>T (p.Lys134Ter)
c.577A>T (p.Lys193Ter)
c.486-17128T>A (n.486-17128T>A)
c.562A>T (p.Lys188Ter)
 dbSNP gnomAD v3 gnomAD v4
9g.36246070T>CCA373418069CLTA,GNEc.670A>G (p.Lys224Glu)
c.400A>G (p.Lys134Glu)
c.577A>G (p.Lys193Glu)
c.486-17128T>C (n.486-17128T>C)
c.562A>G (p.Lys188Glu)
9g.36246070T>GCA373418065CLTA,GNEc.670A>C (p.Lys224Gln)
c.400A>C (p.Lys134Gln)
c.577A>C (p.Lys193Gln)
c.486-17128T>G (n.486-17128T>G)
c.562A>C (p.Lys188Gln)
9g.36246070T=CA1846375135CLTA,GNEc.670A= (p.Lys224=)
c.400A= (p.Lys134=)
c.577A= (p.Lys193=)
c.486-17128T= (n.486-17128T=)
c.562A= (p.Lys188=)
9g.36246071G>ACA464619661CLTA,GNEc.669C>T (p.Ala223=)
c.399C>T (p.Ala133=)
c.576C>T (p.Ala192=)
c.486-17127G>A (n.486-17127G>A)
c.561C>T (p.Ala187=)
9g.36246071G>CCA464619663CLTA,GNEc.669C>G (p.Ala223=)
c.399C>G (p.Ala133=)
c.576C>G (p.Ala192=)
c.486-17127G>C (n.486-17127G>C)
c.561C>G (p.Ala187=)
9g.36246071G>TCA464619664CLTA,GNEc.669C>A (p.Ala223=)
c.399C>A (p.Ala133=)
c.576C>A (p.Ala192=)
c.486-17127G>T (n.486-17127G>T)
c.561C>A (p.Ala187=)
9g.36246072G>ACA373418071CLTA,GNEc.668C>T (p.Ala223Val)
c.398C>T (p.Ala133Val)
c.575C>T (p.Ala192Val)
c.486-17126G>A (n.486-17126G>A)
c.560C>T (p.Ala187Val)
 dbSNP gnomAD v4
9g.36246072G>CCA373418073CLTA,GNEc.668C>G (p.Ala223Gly)
c.398C>G (p.Ala133Gly)
c.575C>G (p.Ala192Gly)
c.486-17126G>C (n.486-17126G>C)
c.560C>G (p.Ala187Gly)
9g.36246072G=CA1846375142CLTA,GNEc.668C= (p.Ala223=)
c.398C= (p.Ala133=)
c.575C= (p.Ala192=)
c.486-17126G= (n.486-17126G=)
c.560C= (p.Ala187=)
9g.36246072G>TCA373418075CLTA,GNEc.668C>A (p.Ala223Asp)
c.398C>A (p.Ala133Asp)
c.575C>A (p.Ala192Asp)
c.486-17126G>T (n.486-17126G>T)
c.560C>A (p.Ala187Asp)
9g.36246073C>ACA373418078CLTA,GNEc.667G>T (p.Ala223Ser)
c.397G>T (p.Ala133Ser)
c.574G>T (p.Ala192Ser)
c.486-17125C>A (n.486-17125C>A)
c.559G>T (p.Ala187Ser)
9g.36246073C=CA1846375145CLTA,GNEc.667G= (p.Ala223=)
c.397G= (p.Ala133=)
c.574G= (p.Ala192=)
c.486-17125C= (n.486-17125C=)
c.559G= (p.Ala187=)
9g.36246073C>GCA373418079CLTA,GNEc.667G>C (p.Ala223Pro)
c.397G>C (p.Ala133Pro)
c.574G>C (p.Ala192Pro)
c.486-17125C>G (n.486-17125C>G)
c.559G>C (p.Ala187Pro)
9g.36246073C>TCA373418081CLTA,GNEc.667G>A (p.Ala223Thr)
c.397G>A (p.Ala133Thr)
c.574G>A (p.Ala192Thr)
c.486-17125C>T (n.486-17125C>T)
c.559G>A (p.Ala187Thr)
 dbSNP COSMIC COSMIC COSMIC
9g.36246074T>ACA464619668CLTA,GNEc.666A>T (p.Ser222=)
c.396A>T (p.Ser132=)
c.573A>T (p.Ser191=)
c.486-17124T>A (n.486-17124T>A)
c.558A>T (p.Ser186=)
9g.36246074T>CCA464619669CLTA,GNEc.666A>G (p.Ser222=)
c.396A>G (p.Ser132=)
c.573A>G (p.Ser191=)
c.486-17124T>C (n.486-17124T>C)
c.558A>G (p.Ser186=)
9g.36246074T>GCA464619670CLTA,GNEc.666A>C (p.Ser222=)
c.396A>C (p.Ser132=)
c.573A>C (p.Ser191=)
c.486-17124T>G (n.486-17124T>G)
c.558A>C (p.Ser186=)
9g.36246075G>ACA373418084CLTA,GNEc.665C>T (p.Ser222Leu)
c.395C>T (p.Ser132Leu)
c.572C>T (p.Ser191Leu)
c.486-17123G>A (n.486-17123G>A)
c.557C>T (p.Ser186Leu)
 gnomAD v4
9g.36246075G>CCA373418085CLTA,GNEc.665C>G (p.Ser222Ter)
c.395C>G (p.Ser132Ter)
c.572C>G (p.Ser191Ter)
c.486-17123G>C (n.486-17123G>C)
c.557C>G (p.Ser186Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36246075G=CA1846375151CLTA,GNEc.665C= (p.Ser222=)
c.395C= (p.Ser132=)
c.572C= (p.Ser191=)
c.486-17123G= (n.486-17123G=)
c.557C= (p.Ser186=)
9g.36246075G>TCA373418087CLTA,GNEc.665C>A (p.Ser222Ter)
c.395C>A (p.Ser132Ter)
c.572C>A (p.Ser191Ter)
c.486-17123G>T (n.486-17123G>T)
c.557C>A (p.Ser186Ter)
9g.36246076A>CCA373418090CLTA,GNEc.664T>G (p.Ser222Ala)
c.394T>G (p.Ser132Ala)
c.571T>G (p.Ser191Ala)
c.486-17122A>C (n.486-17122A>C)
c.556T>G (p.Ser186Ala)
9g.36246076A>GCA373418091CLTA,GNEc.664T>C (p.Ser222Pro)
c.394T>C (p.Ser132Pro)
c.571T>C (p.Ser191Pro)
c.486-17122A>G (n.486-17122A>G)
c.556T>C (p.Ser186Pro)
 gnomAD v4
9g.36246076A>TCA373418093CLTA,GNEc.664T>A (p.Ser222Thr)
c.394T>A (p.Ser132Thr)
c.571T>A (p.Ser191Thr)
c.486-17122A>T (n.486-17122A>T)
c.556T>A (p.Ser186Thr)
9g.36246077G>ACA464619673CLTA,GNEc.663C>T (p.Leu221=)
c.393C>T (p.Leu131=)
c.570C>T (p.Leu190=)
c.486-17121G>A (n.486-17121G>A)
c.555C>T (p.Leu185=)
9g.36246077G>CCA464619674CLTA,GNEc.663C>G (p.Leu221=)
c.393C>G (p.Leu131=)
c.570C>G (p.Leu190=)
c.486-17121G>C (n.486-17121G>C)
c.555C>G (p.Leu185=)
 gnomAD v4
9g.36246077G>TCA464619676CLTA,GNEc.663C>A (p.Leu221=)
c.393C>A (p.Leu131=)
c.570C>A (p.Leu190=)
c.486-17121G>T (n.486-17121G>T)
c.555C>A (p.Leu185=)
9g.36246078A>CCA373418097CLTA,GNEc.662T>G (p.Leu221Arg)
c.392T>G (p.Leu131Arg)
c.569T>G (p.Leu190Arg)
c.486-17120A>C (n.486-17120A>C)
c.554T>G (p.Leu185Arg)
9g.36246078A>GCA373418100CLTA,GNEc.662T>C (p.Leu221Pro)
c.392T>C (p.Leu131Pro)
c.569T>C (p.Leu190Pro)
c.486-17120A>G (n.486-17120A>G)
c.554T>C (p.Leu185Pro)
9g.36246078A>TCA373418096CLTA,GNEc.662T>A (p.Leu221His)
c.392T>A (p.Leu131His)
c.569T>A (p.Leu190His)
c.486-17120A>T (n.486-17120A>T)
c.554T>A (p.Leu185His)
9g.36246079G>ACA10604401CLTA,GNEc.661C>T (p.Leu221Phe)
c.391C>T (p.Leu131Phe)
c.568C>T (p.Leu190Phe)
c.486-17119G>A (n.486-17119G>A)
c.553C>T (p.Leu185Phe)
 ClinVar dbSNP
9g.36246079G>CCA373418103CLTA,GNEc.661C>G (p.Leu221Val)
c.391C>G (p.Leu131Val)
c.568C>G (p.Leu190Val)
c.486-17119G>C (n.486-17119G>C)
c.553C>G (p.Leu185Val)
9g.36246079G=CA1846375174CLTA,GNEc.661C= (p.Leu221=)
c.391C= (p.Leu131=)
c.568C= (p.Leu190=)
c.486-17119G= (n.486-17119G=)
c.553C= (p.Leu185=)
9g.36246079G>TCA373418105CLTA,GNEc.661C>A (p.Leu221Ile)
c.391C>A (p.Leu131Ile)
c.568C>A (p.Leu190Ile)
c.486-17119G>T (n.486-17119G>T)
c.553C>A (p.Leu185Ile)
9g.36246080A>CCA464619683CLTA,GNEc.660T>G (p.Leu220=)
c.390T>G (p.Leu130=)
c.567T>G (p.Leu189=)
c.486-17118A>C (n.486-17118A>C)
c.552T>G (p.Leu184=)
9g.36246080A>GCA464619685CLTA,GNEc.660T>C (p.Leu220=)
c.390T>C (p.Leu130=)
c.567T>C (p.Leu189=)
c.486-17118A>G (n.486-17118A>G)
c.552T>C (p.Leu184=)
9g.36246080A>TCA464619687CLTA,GNEc.660T>A (p.Leu220=)
c.390T>A (p.Leu130=)
c.567T>A (p.Leu189=)
c.486-17118A>T (n.486-17118A>T)
c.552T>A (p.Leu184=)
9g.36246081A>CCA373418107CLTA,GNEc.659T>G (p.Leu220Arg)
c.389T>G (p.Leu130Arg)
c.566T>G (p.Leu189Arg)
c.486-17117A>C (n.486-17117A>C)
c.551T>G (p.Leu184Arg)
9g.36246081A>GCA373418109CLTA,GNEc.659T>C (p.Leu220Pro)
c.389T>C (p.Leu130Pro)
c.566T>C (p.Leu189Pro)
c.486-17117A>G (n.486-17117A>G)
c.551T>C (p.Leu184Pro)
 gnomAD v4
9g.36246081A>TCA373418111CLTA,GNEc.659T>A (p.Leu220His)
c.389T>A (p.Leu130His)
c.566T>A (p.Leu189His)
c.486-17117A>T (n.486-17117A>T)
c.551T>A (p.Leu184His)
9g.36246082G>ACA5056711CLTA,GNEc.658C>T (p.Leu220Phe)
c.388C>T (p.Leu130Phe)
c.565C>T (p.Leu189Phe)
c.486-17116G>A (n.486-17116G>A)
c.550C>T (p.Leu184Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246082G>CCA373418114CLTA,GNEc.658C>G (p.Leu220Val)
c.388C>G (p.Leu130Val)
c.565C>G (p.Leu189Val)
c.486-17116G>C (n.486-17116G>C)
c.550C>G (p.Leu184Val)
 gnomAD v4
9g.36246082G=CA1846375186CLTA,GNEc.658C= (p.Leu220=)
c.388C= (p.Leu130=)
c.565C= (p.Leu189=)
c.486-17116G= (n.486-17116G=)
c.550C= (p.Leu184=)
9g.36246082G>TCA373418115CLTA,GNEc.658C>A (p.Leu220Ile)
c.388C>A (p.Leu130Ile)
c.565C>A (p.Leu189Ile)
c.486-17116G>T (n.486-17116G>T)
c.550C>A (p.Leu184Ile)
9g.36246083T>ACA373418119CLTA,GNEc.657A>T (p.Lys219Asn)
c.387A>T (p.Lys129Asn)
c.564A>T (p.Lys188Asn)
c.486-17115T>A (n.486-17115T>A)
c.549A>T (p.Lys183Asn)
9g.36246083T>CCA464619695CLTA,GNEc.657A>G (p.Lys219=)
c.387A>G (p.Lys129=)
c.564A>G (p.Lys188=)
c.486-17115T>C (n.486-17115T>C)
c.549A>G (p.Lys183=)
9g.36246083T>GCA373418120CLTA,GNEc.657A>C (p.Lys219Asn)
c.387A>C (p.Lys129Asn)
c.564A>C (p.Lys188Asn)
c.486-17115T>G (n.486-17115T>G)
c.549A>C (p.Lys183Asn)
9g.36246084T>ACA373418123CLTA,GNEc.656A>T (p.Lys219Ile)
c.386A>T (p.Lys129Ile)
c.563A>T (p.Lys188Ile)
c.486-17114T>A (n.486-17114T>A)
c.548A>T (p.Lys183Ile)
9g.36246084T>CCA373418125CLTA,GNEc.656A>G (p.Lys219Arg)
c.386A>G (p.Lys129Arg)
c.563A>G (p.Lys188Arg)
c.486-17114T>C (n.486-17114T>C)
c.548A>G (p.Lys183Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.36246084T>GCA373418127CLTA,GNEc.656A>C (p.Lys219Thr)
c.386A>C (p.Lys129Thr)
c.563A>C (p.Lys188Thr)
c.486-17114T>G (n.486-17114T>G)
c.548A>C (p.Lys183Thr)
9g.36246084T=CA1846375192CLTA,GNEc.656A= (p.Lys219=)
c.386A= (p.Lys129=)
c.563A= (p.Lys188=)
c.486-17114T= (n.486-17114T=)
c.548A= (p.Lys183=)
9g.36246085T>ACA373418134CLTA,GNEc.655A>T (p.Lys219Ter)
c.385A>T (p.Lys129Ter)
c.562A>T (p.Lys188Ter)
c.486-17113T>A (n.486-17113T>A)
c.547A>T (p.Lys183Ter)
9g.36246085T>CCA373418132CLTA,GNEc.655A>G (p.Lys219Glu)
c.385A>G (p.Lys129Glu)
c.562A>G (p.Lys188Glu)
c.486-17113T>C (n.486-17113T>C)
c.547A>G (p.Lys183Glu)
9g.36246085T>GCA373418129CLTA,GNEc.655A>C (p.Lys219Gln)
c.385A>C (p.Lys129Gln)
c.562A>C (p.Lys188Gln)
c.486-17113T>G (n.486-17113T>G)
c.547A>C (p.Lys183Gln)
9g.36246086G>ACA5056712CLTA,GNEc.654C>T (p.Asp218=)
c.384C>T (p.Asp128=)
c.561C>T (p.Asp187=)
c.486-17112G>A (n.486-17112G>A)
c.546C>T (p.Asp182=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246086G>CCA373418139CLTA,GNEc.654C>G (p.Asp218Glu)
c.384C>G (p.Asp128Glu)
c.561C>G (p.Asp187Glu)
c.486-17112G>C (n.486-17112G>C)
c.546C>G (p.Asp182Glu)
9g.36246086G=CA1846375197CLTA,GNEc.654C= (p.Asp218=)
c.384C= (p.Asp128=)
c.561C= (p.Asp187=)
c.486-17112G= (n.486-17112G=)
c.546C= (p.Asp182=)
9g.36246086G>TCA373418137CLTA,GNEc.654C>A (p.Asp218Glu)
c.384C>A (p.Asp128Glu)
c.561C>A (p.Asp187Glu)
c.486-17112G>T (n.486-17112G>T)
c.546C>A (p.Asp182Glu)
9g.36246087T>ACA373418142CLTA,GNEc.653A>T (p.Asp218Val)
c.383A>T (p.Asp128Val)
c.560A>T (p.Asp187Val)
c.486-17111T>A (n.486-17111T>A)
c.545A>T (p.Asp182Val)
9g.36246087T>CCA373418143CLTA,GNEc.653A>G (p.Asp218Gly)
c.383A>G (p.Asp128Gly)
c.560A>G (p.Asp187Gly)
c.486-17111T>C (n.486-17111T>C)
c.545A>G (p.Asp182Gly)
9g.36246087T>GCA373418145CLTA,GNEc.653A>C (p.Asp218Ala)
c.383A>C (p.Asp128Ala)
c.560A>C (p.Asp187Ala)
c.486-17111T>G (n.486-17111T>G)
c.545A>C (p.Asp182Ala)
9g.36246088C>ACA373418148CLTA,GNEc.652G>T (p.Asp218Tyr)
c.382G>T (p.Asp128Tyr)
c.559G>T (p.Asp187Tyr)
c.486-17110C>A (n.486-17110C>A)
c.544G>T (p.Asp182Tyr)
9g.36246088C=CA1846375200CLTA,GNEc.652G= (p.Asp218=)
c.382G= (p.Asp128=)
c.559G= (p.Asp187=)
c.486-17110C= (n.486-17110C=)
c.544G= (p.Asp182=)
9g.36246088C>GCA373418149CLTA,GNEc.652G>C (p.Asp218His)
c.382G>C (p.Asp128His)
c.559G>C (p.Asp187His)
c.486-17110C>G (n.486-17110C>G)
c.544G>C (p.Asp182His)
9g.36246088C>TCA373418152CLTA,GNEc.652G>A (p.Asp218Asn)
c.382G>A (p.Asp128Asn)
c.559G>A (p.Asp187Asn)
c.486-17110C>T (n.486-17110C>T)
c.544G>A (p.Asp182Asn)
 dbSNP gnomAD v2 gnomAD v4
9g.36246089A>CCA373418154CLTA,GNEc.651T>G (p.Tyr217Ter)
c.381T>G (p.Tyr127Ter)
c.558T>G (p.Tyr186Ter)
c.486-17109A>C (n.486-17109A>C)
c.543T>G (p.Tyr181Ter)
9g.36246089A>GCA464619703CLTA,GNEc.651T>C (p.Tyr217=)
c.381T>C (p.Tyr127=)
c.558T>C (p.Tyr186=)
c.486-17109A>G (n.486-17109A>G)
c.543T>C (p.Tyr181=)
9g.36246089A>TCA373418156CLTA,GNEc.651T>A (p.Tyr217Ter)
c.381T>A (p.Tyr127Ter)
c.558T>A (p.Tyr186Ter)
c.486-17109A>T (n.486-17109A>T)
c.543T>A (p.Tyr181Ter)
9g.36246089_36246090insGAAAATGCA2509312939CLTA,GNEc.650_651insCATTTTC (p.Asp218IlefsTer3)
c.380_381insCATTTTC (p.Asp128IlefsTer3)
c.557_558insCATTTTC (p.Asp187IlefsTer3)
c.486-17109_486-17108insGAAAATG (n.486-17109_486-17108insGAAAATG)
c.542_543insCATTTTC (p.Asp182IlefsTer3)
9g.36246090T>ACA373418158CLTA,GNEc.650A>T (p.Tyr217Phe)
c.380A>T (p.Tyr127Phe)
c.557A>T (p.Tyr186Phe)
c.486-17108T>A (n.486-17108T>A)
c.542A>T (p.Tyr181Phe)
9g.36246090T>CCA5056713CLTA,GNEc.650A>G (p.Tyr217Cys)
c.380A>G (p.Tyr127Cys)
c.557A>G (p.Tyr186Cys)
c.486-17108T>C (n.486-17108T>C)
c.542A>G (p.Tyr181Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246090T>GCA373418161CLTA,GNEc.650A>C (p.Tyr217Ser)
c.380A>C (p.Tyr127Ser)
c.557A>C (p.Tyr186Ser)
c.486-17108T>G (n.486-17108T>G)
c.542A>C (p.Tyr181Ser)
9g.36246090T=CA1846375204CLTA,GNEc.650A= (p.Tyr217=)
c.380A= (p.Tyr127=)
c.557A= (p.Tyr186=)
c.486-17108T= (n.486-17108T=)
c.542A= (p.Tyr181=)
9g.36246091A>CCA373418163CLTA,GNEc.649T>G (p.Tyr217Asp)
c.379T>G (p.Tyr127Asp)
c.556T>G (p.Tyr186Asp)
c.486-17107A>C (n.486-17107A>C)
c.541T>G (p.Tyr181Asp)
9g.36246091A>GCA373418165CLTA,GNEc.649T>C (p.Tyr217His)
c.379T>C (p.Tyr127His)
c.556T>C (p.Tyr186His)
c.486-17107A>G (n.486-17107A>G)
c.541T>C (p.Tyr181His)
 ClinVar
9g.36246091A>TCA373418167CLTA,GNEc.649T>A (p.Tyr217Asn)
c.379T>A (p.Tyr127Asn)
c.556T>A (p.Tyr186Asn)
c.486-17107A>T (n.486-17107A>T)
c.541T>A (p.Tyr181Asn)
9g.36246092G>ACA464619717CLTA,GNEc.648C>T (p.Ser216=)
c.378C>T (p.Ser126=)
c.555C>T (p.Ser185=)
c.486-17106G>A (n.486-17106G>A)
c.540C>T (p.Ser180=)
9g.36246092G>CCA464619714CLTA,GNEc.648C>G (p.Ser216=)
c.378C>G (p.Ser126=)
c.555C>G (p.Ser185=)
c.486-17106G>C (n.486-17106G>C)
c.540C>G (p.Ser180=)
9g.36246092G>TCA464619711CLTA,GNEc.648C>A (p.Ser216=)
c.378C>A (p.Ser126=)
c.555C>A (p.Ser185=)
c.486-17106G>T (n.486-17106G>T)
c.540C>A (p.Ser180=)
9g.36246093G>ACA373418172CLTA,GNEc.647C>T (p.Ser216Phe)
c.377C>T (p.Ser126Phe)
c.554C>T (p.Ser185Phe)
c.486-17105G>A (n.486-17105G>A)
c.539C>T (p.Ser180Phe)
9g.36246093G>CCA373418171CLTA,GNEc.647C>G (p.Ser216Cys)
c.377C>G (p.Ser126Cys)
c.554C>G (p.Ser185Cys)
c.486-17105G>C (n.486-17105G>C)
c.539C>G (p.Ser180Cys)
9g.36246093G>TCA373418169CLTA,GNEc.647C>A (p.Ser216Tyr)
c.377C>A (p.Ser126Tyr)
c.554C>A (p.Ser185Tyr)
c.486-17105G>T (n.486-17105G>T)
c.539C>A (p.Ser180Tyr)
9g.36246094A>CCA373418174CLTA,GNEc.646T>G (p.Ser216Ala)
c.376T>G (p.Ser126Ala)
c.553T>G (p.Ser185Ala)
c.486-17104A>C (n.486-17104A>C)
c.538T>G (p.Ser180Ala)
9g.36246094A>GCA373418175CLTA,GNEc.646T>C (p.Ser216Pro)
c.376T>C (p.Ser126Pro)
c.553T>C (p.Ser185Pro)
c.486-17104A>G (n.486-17104A>G)
c.538T>C (p.Ser180Pro)
9g.36246094A>TCA373418177CLTA,GNEc.646T>A (p.Ser216Thr)
c.376T>A (p.Ser126Thr)
c.553T>A (p.Ser185Thr)
c.486-17104A>T (n.486-17104A>T)
c.538T>A (p.Ser180Thr)
9g.36246096_36246109delCA2740095486CLTA,GNEc.633_646del (p.Leu211PhefsTer3)
c.363_376del (p.Leu121PhefsTer3)
c.540_553del (p.Leu180PhefsTer3)
c.486-17102_486-17089del (n.486-17102_486-17089del)
c.525_538del (p.Leu175PhefsTer3)
 ClinVar
9g.36246095A>CCA464619721CLTA,GNEc.645T>G (p.Pro215=)
c.375T>G (p.Pro125=)
c.552T>G (p.Pro184=)
c.486-17103A>C (n.486-17103A>C)
c.537T>G (p.Pro179=)
9g.36246095A>GCA464619726CLTA,GNEc.645T>C (p.Pro215=)
c.375T>C (p.Pro125=)
c.552T>C (p.Pro184=)
c.486-17103A>G (n.486-17103A>G)
c.537T>C (p.Pro179=)
9g.36246095A>TCA464619723CLTA,GNEc.645T>A (p.Pro215=)
c.375T>A (p.Pro125=)
c.552T>A (p.Pro184=)
c.486-17103A>T (n.486-17103A>T)
c.537T>A (p.Pro179=)
9g.36246096G>ACA373418178CLTA,GNEc.644C>T (p.Pro215Leu)
c.374C>T (p.Pro125Leu)
c.551C>T (p.Pro184Leu)
c.486-17102G>A (n.486-17102G>A)
c.536C>T (p.Pro179Leu)
9g.36246096G>CCA373418180CLTA,GNEc.644C>G (p.Pro215Arg)
c.374C>G (p.Pro125Arg)
c.551C>G (p.Pro184Arg)
c.486-17102G>C (n.486-17102G>C)
c.536C>G (p.Pro179Arg)
9g.36246096G>TCA373418182CLTA,GNEc.644C>A (p.Pro215His)
c.374C>A (p.Pro125His)
c.551C>A (p.Pro184His)
c.486-17102G>T (n.486-17102G>T)
c.536C>A (p.Pro179His)
9g.36246097G>ACA373418185CLTA,GNEc.643C>T (p.Pro215Ser)
c.373C>T (p.Pro125Ser)
c.550C>T (p.Pro184Ser)
c.486-17101G>A (n.486-17101G>A)
c.535C>T (p.Pro179Ser)
9g.36246097G>CCA373418186CLTA,GNEc.643C>G (p.Pro215Ala)
c.373C>G (p.Pro125Ala)
c.550C>G (p.Pro184Ala)
c.486-17101G>C (n.486-17101G>C)
c.535C>G (p.Pro179Ala)
9g.36246097G>TCA373418187CLTA,GNEc.643C>A (p.Pro215Thr)
c.373C>A (p.Pro125Thr)
c.550C>A (p.Pro184Thr)
c.486-17101G>T (n.486-17101G>T)
c.535C>A (p.Pro179Thr)
9g.36246098G>ACA464619738CLTA,GNEc.642C>T (p.Cys214=)
c.372C>T (p.Cys124=)
c.549C>T (p.Cys183=)
c.486-17100G>A (n.486-17100G>A)
c.534C>T (p.Cys178=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246098G>CCA373418190CLTA,GNEc.642C>G (p.Cys214Trp)
c.372C>G (p.Cys124Trp)
c.549C>G (p.Cys183Trp)
c.486-17100G>C (n.486-17100G>C)
c.534C>G (p.Cys178Trp)
9g.36246098G=CA1846375205CLTA,GNEc.642C= (p.Cys214=)
c.372C= (p.Cys124=)
c.549C= (p.Cys183=)
c.486-17100G= (n.486-17100G=)
c.534C= (p.Cys178=)
9g.36246098G>TCA373418192CLTA,GNEc.642C>A (p.Cys214Ter)
c.372C>A (p.Cys124Ter)
c.549C>A (p.Cys183Ter)
c.486-17100G>T (n.486-17100G>T)
c.534C>A (p.Cys178Ter)
9g.36246099C>ACA373418194CLTA,GNEc.641G>T (p.Cys214Phe)
c.371G>T (p.Cys124Phe)
c.548G>T (p.Cys183Phe)
c.486-17099C>A (n.486-17099C>A)
c.533G>T (p.Cys178Phe)
9g.36246099C=CA1846375208CLTA,GNEc.641G= (p.Cys214=)
c.371G= (p.Cys124=)
c.548G= (p.Cys183=)
c.486-17099C= (n.486-17099C=)
c.533G= (p.Cys178=)
9g.36246099C>GCA373418196CLTA,GNEc.641G>C (p.Cys214Ser)
c.371G>C (p.Cys124Ser)
c.548G>C (p.Cys183Ser)
c.486-17099C>G (n.486-17099C>G)
c.533G>C (p.Cys178Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246099C>TCA373418198CLTA,GNEc.641G>A (p.Cys214Tyr)
c.371G>A (p.Cys124Tyr)
c.548G>A (p.Cys183Tyr)
c.486-17099C>T (n.486-17099C>T)
c.533G>A (p.Cys178Tyr)
9g.36246100A>CCA373418203CLTA,GNEc.640T>G (p.Cys214Gly)
c.370T>G (p.Cys124Gly)
c.547T>G (p.Cys183Gly)
c.486-17098A>C (n.486-17098A>C)
c.532T>G (p.Cys178Gly)
9g.36246100A>GCA373418201CLTA,GNEc.640T>C (p.Cys214Arg)
c.370T>C (p.Cys124Arg)
c.547T>C (p.Cys183Arg)
c.486-17098A>G (n.486-17098A>G)
c.532T>C (p.Cys178Arg)
9g.36246100A>TCA373418200CLTA,GNEc.640T>A (p.Cys214Ser)
c.370T>A (p.Cys124Ser)
c.547T>A (p.Cys183Ser)
c.486-17098A>T (n.486-17098A>T)
c.532T>A (p.Cys178Ser)
9g.36246101G>ACA464619743CLTA,GNEc.639C>T (p.Gly213=)
c.369C>T (p.Gly123=)
c.546C>T (p.Gly182=)
c.486-17097G>A (n.486-17097G>A)
c.531C>T (p.Gly177=)
9g.36246101G>CCA464619745CLTA,GNEc.639C>G (p.Gly213=)
c.369C>G (p.Gly123=)
c.546C>G (p.Gly182=)
c.486-17097G>C (n.486-17097G>C)
c.531C>G (p.Gly177=)
9g.36246101G>TCA464619747CLTA,GNEc.639C>A (p.Gly213=)
c.369C>A (p.Gly123=)
c.546C>A (p.Gly182=)
c.486-17097G>T (n.486-17097G>T)
c.531C>A (p.Gly177=)
9g.36246102C>ACA373418205CLTA,GNEc.638G>T (p.Gly213Val)
c.368G>T (p.Gly123Val)
c.545G>T (p.Gly182Val)
c.486-17096C>A (n.486-17096C>A)
c.530G>T (p.Gly177Val)
9g.36246102C>GCA373418207CLTA,GNEc.638G>C (p.Gly213Ala)
c.368G>C (p.Gly123Ala)
c.545G>C (p.Gly182Ala)
c.486-17096C>G (n.486-17096C>G)
c.530G>C (p.Gly177Ala)
9g.36246102C>TCA373418209CLTA,GNEc.638G>A (p.Gly213Asp)
c.368G>A (p.Gly123Asp)
c.545G>A (p.Gly182Asp)
c.486-17096C>T (n.486-17096C>T)
c.530G>A (p.Gly177Asp)
9g.36246103C>ACA373418211CLTA,GNEc.637G>T (p.Gly213Cys)
c.367G>T (p.Gly123Cys)
c.544G>T (p.Gly182Cys)
c.486-17095C>A (n.486-17095C>A)
c.529G>T (p.Gly177Cys)
9g.36246103C>GCA373418213CLTA,GNEc.637G>C (p.Gly213Arg)
c.367G>C (p.Gly123Arg)
c.544G>C (p.Gly182Arg)
c.486-17095C>G (n.486-17095C>G)
c.529G>C (p.Gly177Arg)
9g.36246103C>TCA373418215CLTA,GNEc.637G>A (p.Gly213Ser)
c.367G>A (p.Gly123Ser)
c.544G>A (p.Gly182Ser)
c.486-17095C>T (n.486-17095C>T)
c.529G>A (p.Gly177Ser)
9g.36246104T>ACA464619755CLTA,GNEc.636A>T (p.Ala212=)
c.366A>T (p.Ala122=)
c.543A>T (p.Ala181=)
c.486-17094T>A (n.486-17094T>A)
c.528A>T (p.Ala176=)
9g.36246104T>CCA464619756CLTA,GNEc.636A>G (p.Ala212=)
c.366A>G (p.Ala122=)
c.543A>G (p.Ala181=)
c.486-17094T>C (n.486-17094T>C)
c.528A>G (p.Ala176=)
9g.36246104T>GCA464619758CLTA,GNEc.636A>C (p.Ala212=)
c.366A>C (p.Ala122=)
c.543A>C (p.Ala181=)
c.486-17094T>G (n.486-17094T>G)
c.528A>C (p.Ala176=)
9g.36246105G>ACA192828159CLTA,GNEc.635C>T (p.Ala212Val)
c.365C>T (p.Ala122Val)
c.542C>T (p.Ala181Val)
c.486-17093G>A (n.486-17093G>A)
c.527C>T (p.Ala176Val)
 dbSNP
9g.36246105G>CCA373418218CLTA,GNEc.635C>G (p.Ala212Gly)
c.365C>G (p.Ala122Gly)
c.542C>G (p.Ala181Gly)
c.486-17093G>C (n.486-17093G>C)
c.527C>G (p.Ala176Gly)
 dbSNP
9g.36246105G=CA1846375210CLTA,GNEc.635C= (p.Ala212=)
c.365C= (p.Ala122=)
c.542C= (p.Ala181=)
c.486-17093G= (n.486-17093G=)
c.527C= (p.Ala176=)
9g.36246105G>TCA373418219CLTA,GNEc.635C>A (p.Ala212Glu)
c.365C>A (p.Ala122Glu)
c.542C>A (p.Ala181Glu)
c.486-17093G>T (n.486-17093G>T)
c.527C>A (p.Ala176Glu)
9g.36246106C>ACA373418222CLTA,GNEc.634G>T (p.Ala212Ser)
c.364G>T (p.Ala122Ser)
c.541G>T (p.Ala181Ser)
c.486-17092C>A (n.486-17092C>A)
c.526G>T (p.Ala176Ser)
9g.36246106C>GCA373418224CLTA,GNEc.634G>C (p.Ala212Pro)
c.364G>C (p.Ala122Pro)
c.541G>C (p.Ala181Pro)
c.486-17092C>G (n.486-17092C>G)
c.526G>C (p.Ala176Pro)
9g.36246106C>TCA373418226CLTA,GNEc.634G>A (p.Ala212Thr)
c.364G>A (p.Ala122Thr)
c.541G>A (p.Ala181Thr)
c.486-17092C>T (n.486-17092C>T)
c.526G>A (p.Ala176Thr)
9g.36246107C>ACA373418228CLTA,GNEc.633G>T (p.Leu211Phe)
c.363G>T (p.Leu121Phe)
c.540G>T (p.Leu180Phe)
c.486-17091C>A (n.486-17091C>A)
c.525G>T (p.Leu175Phe)
9g.36246107C>GCA373418230CLTA,GNEc.633G>C (p.Leu211Phe)
c.363G>C (p.Leu121Phe)
c.540G>C (p.Leu180Phe)
c.486-17091C>G (n.486-17091C>G)
c.525G>C (p.Leu175Phe)
9g.36246107C>TCA464619762CLTA,GNEc.633G>A (p.Leu211=)
c.363G>A (p.Leu121=)
c.540G>A (p.Leu180=)
c.486-17091C>T (n.486-17091C>T)
c.525G>A (p.Leu175=)
9g.36246108A>CCA373418236CLTA,GNEc.632T>G (p.Leu211Trp)
c.362T>G (p.Leu121Trp)
c.539T>G (p.Leu180Trp)
c.486-17090A>C (n.486-17090A>C)
c.524T>G (p.Leu175Trp)
9g.36246108A>GCA373418233CLTA,GNEc.632T>C (p.Leu211Ser)
c.362T>C (p.Leu121Ser)
c.539T>C (p.Leu180Ser)
c.486-17090A>G (n.486-17090A>G)
c.524T>C (p.Leu175Ser)
9g.36246108A>TCA373418234CLTA,GNEc.632T>A (p.Leu211Ter)
c.362T>A (p.Leu121Ter)
c.539T>A (p.Leu180Ter)
c.486-17090A>T (n.486-17090A>T)
c.524T>A (p.Leu175Ter)
9g.36246109A>CCA373418239CLTA,GNEc.631T>G (p.Leu211Val)
c.361T>G (p.Leu121Val)
c.538T>G (p.Leu180Val)
c.486-17089A>C (n.486-17089A>C)
c.523T>G (p.Leu175Val)
9g.36246109A>GCA464619763CLTA,GNEc.631T>C (p.Leu211=)
c.361T>C (p.Leu121=)
c.538T>C (p.Leu180=)
c.486-17089A>G (n.486-17089A>G)
c.523T>C (p.Leu175=)
 ClinVar dbSNP
9g.36246109A>TCA373418240CLTA,GNEc.631T>A (p.Leu211Met)
c.361T>A (p.Leu121Met)
c.538T>A (p.Leu180Met)
c.486-17089A>T (n.486-17089A>T)
c.523T>A (p.Leu175Met)
9g.36246110A=CA1846375213CLTA,GNEc.630T= (p.Leu210=)
c.360T= (p.Leu120=)
c.537T= (p.Leu179=)
c.486-17088A= (n.486-17088A=)
c.522T= (p.Leu174=)
9g.36246110A>CCA464619764CLTA,GNEc.630T>G (p.Leu210=)
c.360T>G (p.Leu120=)
c.537T>G (p.Leu179=)
c.486-17088A>C (n.486-17088A>C)
c.522T>G (p.Leu174=)
9g.36246110A>GCA192828181CLTA,GNEc.630T>C (p.Leu210=)
c.360T>C (p.Leu120=)
c.537T>C (p.Leu179=)
c.486-17088A>G (n.486-17088A>G)
c.522T>C (p.Leu174=)
 dbSNP
9g.36246110A>TCA464619766CLTA,GNEc.630T>A (p.Leu210=)
c.360T>A (p.Leu120=)
c.537T>A (p.Leu179=)
c.486-17088A>T (n.486-17088A>T)
c.522T>A (p.Leu174=)
9g.36246111A>CCA373418243CLTA,GNEc.629T>G (p.Leu210Arg)
c.359T>G (p.Leu120Arg)
c.536T>G (p.Leu179Arg)
c.486-17087A>C (n.486-17087A>C)
c.521T>G (p.Leu174Arg)
9g.36246111A>GCA373418245CLTA,GNEc.629T>C (p.Leu210Pro)
c.359T>C (p.Leu120Pro)
c.536T>C (p.Leu179Pro)
c.486-17087A>G (n.486-17087A>G)
c.521T>C (p.Leu174Pro)
9g.36246111A>TCA373418246CLTA,GNEc.629T>A (p.Leu210His)
c.359T>A (p.Leu120His)
c.536T>A (p.Leu179His)
c.486-17087A>T (n.486-17087A>T)
c.521T>A (p.Leu174His)
9g.36246112G>ACA373418248CLTA,GNEc.628C>T (p.Leu210Phe)
c.358C>T (p.Leu120Phe)
c.535C>T (p.Leu179Phe)
c.486-17086G>A (n.486-17086G>A)
c.520C>T (p.Leu174Phe)
 gnomAD v4
9g.36246112G>CCA373418250CLTA,GNEc.628C>G (p.Leu210Val)
c.358C>G (p.Leu120Val)
c.535C>G (p.Leu179Val)
c.486-17086G>C (n.486-17086G>C)
c.520C>G (p.Leu174Val)
9g.36246112G>TCA373418252CLTA,GNEc.628C>A (p.Leu210Ile)
c.358C>A (p.Leu120Ile)
c.535C>A (p.Leu179Ile)
c.486-17086G>T (n.486-17086G>T)
c.520C>A (p.Leu174Ile)
9g.36246113G>ACA464619768CLTA,GNEc.627C>T (p.Ile209=)
c.357C>T (p.Ile119=)
c.534C>T (p.Ile178=)
c.486-17085G>A (n.486-17085G>A)
c.519C>T (p.Ile173=)
9g.36246113G>CCA373418254CLTA,GNEc.627C>G (p.Ile209Met)
c.357C>G (p.Ile119Met)
c.534C>G (p.Ile178Met)
c.486-17085G>C (n.486-17085G>C)
c.519C>G (p.Ile173Met)
9g.36246113G>TCA464619770CLTA,GNEc.627C>A (p.Ile209=)
c.357C>A (p.Ile119=)
c.534C>A (p.Ile178=)
c.486-17085G>T (n.486-17085G>T)
c.519C>A (p.Ile173=)
9g.36246114A>CCA373418257CLTA,GNEc.626T>G (p.Ile209Ser)
c.356T>G (p.Ile119Ser)
c.533T>G (p.Ile178Ser)
c.486-17084A>C (n.486-17084A>C)
c.518T>G (p.Ile173Ser)
9g.36246114A>GCA373418258CLTA,GNEc.626T>C (p.Ile209Thr)
c.356T>C (p.Ile119Thr)
c.533T>C (p.Ile178Thr)
c.486-17084A>G (n.486-17084A>G)
c.518T>C (p.Ile173Thr)
9g.36246114A>TCA373418260CLTA,GNEc.626T>A (p.Ile209Asn)
c.356T>A (p.Ile119Asn)
c.533T>A (p.Ile178Asn)
c.486-17084A>T (n.486-17084A>T)
c.518T>A (p.Ile173Asn)
9g.36246115T>ACA373418262CLTA,GNEc.625A>T (p.Ile209Phe)
c.355A>T (p.Ile119Phe)
c.532A>T (p.Ile178Phe)
c.486-17083T>A (n.486-17083T>A)
c.517A>T (p.Ile173Phe)
9g.36246115T>CCA373418265CLTA,GNEc.625A>G (p.Ile209Val)
c.355A>G (p.Ile119Val)
c.532A>G (p.Ile178Val)
c.486-17083T>C (n.486-17083T>C)
c.517A>G (p.Ile173Val)
9g.36246115T>GCA373418263CLTA,GNEc.625A>C (p.Ile209Leu)
c.355A>C (p.Ile119Leu)
c.532A>C (p.Ile178Leu)
c.486-17083T>G (n.486-17083T>G)
c.517A>C (p.Ile173Leu)
9g.36246116G>ACA5056714CLTA,GNEc.624C>T (p.Arg208=)
c.354C>T (p.Arg118=)
c.531C>T (p.Arg177=)
c.486-17082G>A (n.486-17082G>A)
c.516C>T (p.Arg172=)
 dbSNP ExAC gnomAD v2
9g.36246116G>CCA464619776CLTA,GNEc.624C>G (p.Arg208=)
c.354C>G (p.Arg118=)
c.531C>G (p.Arg177=)
c.486-17082G>C (n.486-17082G>C)
c.516C>G (p.Arg172=)
9g.36246116G=CA1846375216CLTA,GNEc.624C= (p.Arg208=)
c.354C= (p.Arg118=)
c.531C= (p.Arg177=)
c.486-17082G= (n.486-17082G=)
c.516C= (p.Arg172=)
9g.36246116G>TCA464619778CLTA,GNEc.624C>A (p.Arg208=)
c.354C>A (p.Arg118=)
c.531C>A (p.Arg177=)
c.486-17082G>T (n.486-17082G>T)
c.516C>A (p.Arg172=)
9g.36246117C>ACA373418272CLTA,GNEc.623G>T (p.Arg208Leu)
c.353G>T (p.Arg118Leu)
c.530G>T (p.Arg177Leu)
c.486-17081C>A (n.486-17081C>A)
c.515G>T (p.Arg172Leu)
9g.36246117C=CA1846375221CLTA,GNEc.623G= (p.Arg208=)
c.353G= (p.Arg118=)
c.530G= (p.Arg177=)
c.486-17081C= (n.486-17081C=)
c.515G= (p.Arg172=)
9g.36246117C>GCA373418269CLTA,GNEc.623G>C (p.Arg208Pro)
c.353G>C (p.Arg118Pro)
c.530G>C (p.Arg177Pro)
c.486-17081C>G (n.486-17081C>G)
c.515G>C (p.Arg172Pro)
9g.36246117C>TCA5056715CLTA,GNEc.623G>A (p.Arg208His)
c.353G>A (p.Arg118His)
c.530G>A (p.Arg177His)
c.486-17081C>T (n.486-17081C>T)
c.515G>A (p.Arg172His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
9g.36246118G>ACA5056716CLTA,GNEc.622C>T (p.Arg208Cys)
c.352C>T (p.Arg118Cys)
c.529C>T (p.Arg177Cys)
c.486-17080G>A (n.486-17080G>A)
c.514C>T (p.Arg172Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
9g.36246118G>CCA373418276CLTA,GNEc.622C>G (p.Arg208Gly)
c.352C>G (p.Arg118Gly)
c.529C>G (p.Arg177Gly)
c.486-17080G>C (n.486-17080G>C)
c.514C>G (p.Arg172Gly)
 gnomAD v4
9g.36246118G=CA1846375231CLTA,GNEc.622C= (p.Arg208=)
c.352C= (p.Arg118=)
c.529C= (p.Arg177=)
c.486-17080G= (n.486-17080G=)
c.514C= (p.Arg172=)
9g.36246118G>TCA373418278CLTA,GNEc.622C>A (p.Arg208Ser)
c.352C>A (p.Arg118Ser)
c.529C>A (p.Arg177Ser)
c.486-17080G>T (n.486-17080G>T)
c.514C>A (p.Arg172Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.36246119A>CCA373418280CLTA,GNEc.621T>G (p.Asp207Glu)
c.351T>G (p.Asp117Glu)
c.528T>G (p.Asp176Glu)
c.486-17079A>C (n.486-17079A>C)
c.513T>G (p.Asp171Glu)
9g.36246119A>GCA464619782CLTA,GNEc.621T>C (p.Asp207=)
c.351T>C (p.Asp117=)
c.528T>C (p.Asp176=)
c.486-17079A>G (n.486-17079A>G)
c.513T>C (p.Asp171=)
9g.36246119A>TCA373418282CLTA,GNEc.621T>A (p.Asp207Glu)
c.351T>A (p.Asp117Glu)
c.528T>A (p.Asp176Glu)
c.486-17079A>T (n.486-17079A>T)
c.513T>A (p.Asp171Glu)
 COSMIC COSMIC COSMIC
9g.36246120T>ACA344238CLTA,GNEc.620A>T (p.Asp207Val)
c.350A>T (p.Asp117Val)
c.527A>T (p.Asp176Val)
c.486-17078T>A (n.486-17078T>A)
c.512A>T (p.Asp171Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246120T>CCA373418286CLTA,GNEc.620A>G (p.Asp207Gly)
c.350A>G (p.Asp117Gly)
c.527A>G (p.Asp176Gly)
c.486-17078T>C (n.486-17078T>C)
c.512A>G (p.Asp171Gly)
 gnomAD v4
9g.36246120T>GCA373418288CLTA,GNEc.620A>C (p.Asp207Ala)
c.350A>C (p.Asp117Ala)
c.527A>C (p.Asp176Ala)
c.486-17078T>G (n.486-17078T>G)
c.512A>C (p.Asp171Ala)
9g.36246120T=CA1846375234CLTA,GNEc.620A= (p.Asp207=)
c.350A= (p.Asp117=)
c.527A= (p.Asp176=)
c.486-17078T= (n.486-17078T=)
c.512A= (p.Asp171=)
9g.36246121C>ACA373418290CLTA,GNEc.619G>T (p.Asp207Tyr)
c.349G>T (p.Asp117Tyr)
c.526G>T (p.Asp176Tyr)
c.486-17077C>A (n.486-17077C>A)
c.511G>T (p.Asp171Tyr)
9g.36246121C=CA1846375240CLTA,GNEc.619G= (p.Asp207=)
c.349G= (p.Asp117=)
c.526G= (p.Asp176=)
c.486-17077C= (n.486-17077C=)
c.511G= (p.Asp171=)
9g.36246121C>GCA373418291CLTA,GNEc.619G>C (p.Asp207His)
c.349G>C (p.Asp117His)
c.526G>C (p.Asp176His)
c.486-17077C>G (n.486-17077C>G)
c.511G>C (p.Asp171His)
9g.36246121C>TCA5056717CLTA,GNEc.619G>A (p.Asp207Asn)
c.349G>A (p.Asp117Asn)
c.526G>A (p.Asp176Asn)
c.486-17077C>T (n.486-17077C>T)
c.511G>A (p.Asp171Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246122A>CCA373418295CLTA,GNEc.618T>G (p.His206Gln)
c.348T>G (p.His116Gln)
c.525T>G (p.His175Gln)
c.486-17076A>C (n.486-17076A>C)
c.510T>G (p.His170Gln)
9g.36246122A>GCA464619786CLTA,GNEc.618T>C (p.His206=)
c.348T>C (p.His116=)
c.525T>C (p.His175=)
c.486-17076A>G (n.486-17076A>G)
c.510T>C (p.His170=)
9g.36246122A>TCA373418297CLTA,GNEc.618T>A (p.His206Gln)
c.348T>A (p.His116Gln)
c.525T>A (p.His175Gln)
c.486-17076A>T (n.486-17076A>T)
c.510T>A (p.His170Gln)
9g.36246123T>ACA373418299CLTA,GNEc.617A>T (p.His206Leu)
c.347A>T (p.His116Leu)
c.524A>T (p.His175Leu)
c.486-17075T>A (n.486-17075T>A)
c.509A>T (p.His170Leu)
9g.36246123T>CCA373418301CLTA,GNEc.617A>G (p.His206Arg)
c.347A>G (p.His116Arg)
c.524A>G (p.His175Arg)
c.486-17075T>C (n.486-17075T>C)
c.509A>G (p.His170Arg)
 gnomAD v4
9g.36246123T>GCA373418303CLTA,GNEc.617A>C (p.His206Pro)
c.347A>C (p.His116Pro)
c.524A>C (p.His175Pro)
c.486-17075T>G (n.486-17075T>G)
c.509A>C (p.His170Pro)
9g.36246124G>ACA373418305CLTA,GNEc.616C>T (p.His206Tyr)
c.346C>T (p.His116Tyr)
c.523C>T (p.His175Tyr)
c.486-17074G>A (n.486-17074G>A)
c.508C>T (p.His170Tyr)
9g.36246124G>CCA373418307CLTA,GNEc.616C>G (p.His206Asp)
c.346C>G (p.His116Asp)
c.523C>G (p.His175Asp)
c.486-17074G>C (n.486-17074G>C)
c.508C>G (p.His170Asp)
9g.36246124G>TCA373418309CLTA,GNEc.616C>A (p.His206Asn)
c.346C>A (p.His116Asn)
c.523C>A (p.His175Asn)
c.486-17074G>T (n.486-17074G>T)
c.508C>A (p.His170Asn)
9g.36246125G>ACA464619798CLTA,GNEc.615C>T (p.Asp205=)
c.345C>T (p.Asp115=)
c.522C>T (p.Asp174=)
c.486-17073G>A (n.486-17073G>A)
c.507C>T (p.Asp169=)
9g.36246125G>CCA373418310CLTA,GNEc.615C>G (p.Asp205Glu)
c.345C>G (p.Asp115Glu)
c.522C>G (p.Asp174Glu)
c.486-17073G>C (n.486-17073G>C)
c.507C>G (p.Asp169Glu)
9g.36246125G>TCA373418311CLTA,GNEc.615C>A (p.Asp205Glu)
c.345C>A (p.Asp115Glu)
c.522C>A (p.Asp174Glu)
c.486-17073G>T (n.486-17073G>T)
c.507C>A (p.Asp169Glu)
9g.36246126T>ACA373418312CLTA,GNEc.614A>T (p.Asp205Val)
c.344A>T (p.Asp115Val)
c.521A>T (p.Asp174Val)
c.486-17072T>A (n.486-17072T>A)
c.506A>T (p.Asp169Val)
9g.36246126T>CCA373418314CLTA,GNEc.614A>G (p.Asp205Gly)
c.344A>G (p.Asp115Gly)
c.521A>G (p.Asp174Gly)
c.486-17072T>C (n.486-17072T>C)
c.506A>G (p.Asp169Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.36246126T>GCA373418316CLTA,GNEc.614A>C (p.Asp205Ala)
c.344A>C (p.Asp115Ala)
c.521A>C (p.Asp174Ala)
c.486-17072T>G (n.486-17072T>G)
c.506A>C (p.Asp169Ala)
9g.36246126T=CA1846375242CLTA,GNEc.614A= (p.Asp205=)
c.344A= (p.Asp115=)
c.521A= (p.Asp174=)
c.486-17072T= (n.486-17072T=)
c.506A= (p.Asp169=)
9g.36246127C>ACA373418321CLTA,GNEc.613G>T (p.Asp205Tyr)
c.343G>T (p.Asp115Tyr)
c.520G>T (p.Asp174Tyr)
c.486-17071C>A (n.486-17071C>A)
c.505G>T (p.Asp169Tyr)
9g.36246127C>GCA373418323CLTA,GNEc.613G>C (p.Asp205His)
c.343G>C (p.Asp115His)
c.520G>C (p.Asp174His)
c.486-17071C>G (n.486-17071C>G)
c.505G>C (p.Asp169His)
9g.36246127C>TCA373418318CLTA,GNEc.613G>A (p.Asp205Asn)
c.343G>A (p.Asp115Asn)
c.520G>A (p.Asp174Asn)
c.486-17071C>T (n.486-17071C>T)
c.505G>A (p.Asp169Asn)
9g.36246128C>ACA373418324CLTA,GNEc.612G>T (p.Glu204Asp)
c.342G>T (p.Glu114Asp)
c.519G>T (p.Glu173Asp)
c.486-17070C>A (n.486-17070C>A)
c.504G>T (p.Glu168Asp)
9g.36246128C>GCA373418325CLTA,GNEc.612G>C (p.Glu204Asp)
c.342G>C (p.Glu114Asp)
c.519G>C (p.Glu173Asp)
c.486-17070C>G (n.486-17070C>G)
c.504G>C (p.Glu168Asp)
 gnomAD v4
9g.36246128C>TCA464619803CLTA,GNEc.612G>A (p.Glu204=)
c.342G>A (p.Glu114=)
c.519G>A (p.Glu173=)
c.486-17070C>T (n.486-17070C>T)
c.504G>A (p.Glu168=)
 gnomAD v4
9g.36246129T>ACA373418329CLTA,GNEc.611A>T (p.Glu204Val)
c.341A>T (p.Glu114Val)
c.518A>T (p.Glu173Val)
c.486-17069T>A (n.486-17069T>A)
c.503A>T (p.Glu168Val)
9g.36246129T>CCA373418330CLTA,GNEc.611A>G (p.Glu204Gly)
c.341A>G (p.Glu114Gly)
c.518A>G (p.Glu173Gly)
c.486-17069T>C (n.486-17069T>C)
c.503A>G (p.Glu168Gly)
9g.36246129T>GCA373418333CLTA,GNEc.611A>C (p.Glu204Ala)
c.341A>C (p.Glu114Ala)
c.518A>C (p.Glu173Ala)
c.486-17069T>G (n.486-17069T>G)
c.503A>C (p.Glu168Ala)
9g.36246130C>ACA373418335CLTA,GNEc.610G>T (p.Glu204Ter)
c.340G>T (p.Glu114Ter)
c.517G>T (p.Glu173Ter)
c.486-17068C>A (n.486-17068C>A)
c.502G>T (p.Glu168Ter)
9g.36246130C=CA1846375248CLTA,GNEc.610G= (p.Glu204=)
c.340G= (p.Glu114=)
c.517G= (p.Glu173=)
c.486-17068C= (n.486-17068C=)
c.502G= (p.Glu168=)
9g.36246130C>GCA373418337CLTA,GNEc.610G>C (p.Glu204Gln)
c.340G>C (p.Glu114Gln)
c.517G>C (p.Glu173Gln)
c.486-17068C>G (n.486-17068C>G)
c.502G>C (p.Glu168Gln)
9g.36246130C>TCA373418339CLTA,GNEc.610G>A (p.Glu204Lys)
c.340G>A (p.Glu114Lys)
c.517G>A (p.Glu173Lys)
c.486-17068C>T (n.486-17068C>T)
c.502G>A (p.Glu168Lys)
 dbSNP gnomAD v2
9g.36246131A>CCA373418340CLTA,GNEc.609T>G (p.Cys203Trp)
c.339T>G (p.Cys113Trp)
c.516T>G (p.Cys172Trp)
c.486-17067A>C (n.486-17067A>C)
c.501T>G (p.Cys167Trp)
9g.36246131A>GCA464619812CLTA,GNEc.609T>C (p.Cys203=)
c.339T>C (p.Cys113=)
c.516T>C (p.Cys172=)
c.486-17067A>G (n.486-17067A>G)
c.501T>C (p.Cys167=)
9g.36246131A>TCA373418342CLTA,GNEc.609T>A (p.Cys203Ter)
c.339T>A (p.Cys113Ter)
c.516T>A (p.Cys172Ter)
c.486-17067A>T (n.486-17067A>T)
c.501T>A (p.Cys167Ter)
9g.36246132C>ACA373418343CLTA,GNEc.608G>T (p.Cys203Phe)
c.338G>T (p.Cys113Phe)
c.515G>T (p.Cys172Phe)
c.486-17066C>A (n.486-17066C>A)
c.500G>T (p.Cys167Phe)
9g.36246132C=CA1846375251CLTA,GNEc.608G= (p.Cys203=)
c.338G= (p.Cys113=)
c.515G= (p.Cys172=)
c.486-17066C= (n.486-17066C=)
c.500G= (p.Cys167=)
9g.36246132C>GCA5056718CLTA,GNEc.608G>C (p.Cys203Ser)
c.338G>C (p.Cys113Ser)
c.515G>C (p.Cys172Ser)
c.486-17066C>G (n.486-17066C>G)
c.500G>C (p.Cys167Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246132C>TCA373418346CLTA,GNEc.608G>A (p.Cys203Tyr)
c.338G>A (p.Cys113Tyr)
c.515G>A (p.Cys172Tyr)
c.486-17066C>T (n.486-17066C>T)
c.500G>A (p.Cys167Tyr)
 dbSNP gnomAD v3 gnomAD v4
9g.36246133A>CCA373418350CLTA,GNEc.607T>G (p.Cys203Gly)
c.337T>G (p.Cys113Gly)
c.514T>G (p.Cys172Gly)
c.486-17065A>C (n.486-17065A>C)
c.499T>G (p.Cys167Gly)
9g.36246133A>GCA373418349CLTA,GNEc.607T>C (p.Cys203Arg)
c.337T>C (p.Cys113Arg)
c.514T>C (p.Cys172Arg)
c.486-17065A>G (n.486-17065A>G)
c.499T>C (p.Cys167Arg)
9g.36246133A>TCA373418348CLTA,GNEc.607T>A (p.Cys203Ser)
c.337T>A (p.Cys113Ser)
c.514T>A (p.Cys172Ser)
c.486-17065A>T (n.486-17065A>T)
c.499T>A (p.Cys167Ser)
9g.36246134C>ACA373418352CLTA,GNEc.606G>T (p.Met202Ile)
c.336G>T (p.Met112Ile)
c.513G>T (p.Met171Ile)
c.486-17064C>A (n.486-17064C>A)
c.498G>T (p.Met166Ile)
9g.36246134C>GCA373418353CLTA,GNEc.606G>C (p.Met202Ile)
c.336G>C (p.Met112Ile)
c.513G>C (p.Met171Ile)
c.486-17064C>G (n.486-17064C>G)
c.498G>C (p.Met166Ile)
9g.36246134C>TCA373418355CLTA,GNEc.606G>A (p.Met202Ile)
c.336G>A (p.Met112Ile)
c.513G>A (p.Met171Ile)
c.486-17064C>T (n.486-17064C>T)
c.498G>A (p.Met166Ile)
9g.36246135A>CCA373418358CLTA,GNEc.605T>G (p.Met202Arg)
c.335T>G (p.Met112Arg)
c.512T>G (p.Met171Arg)
c.486-17063A>C (n.486-17063A>C)
c.497T>G (p.Met166Arg)
9g.36246135A>GCA373418359CLTA,GNEc.605T>C (p.Met202Thr)
c.335T>C (p.Met112Thr)
c.512T>C (p.Met171Thr)
c.486-17063A>G (n.486-17063A>G)
c.497T>C (p.Met166Thr)
 ClinVar
9g.36246135A>TCA373418361CLTA,GNEc.605T>A (p.Met202Lys)
c.335T>A (p.Met112Lys)
c.512T>A (p.Met171Lys)
c.486-17063A>T (n.486-17063A>T)
c.497T>A (p.Met166Lys)
9g.36246136T>ACA373418364CLTA,GNEc.604A>T (p.Met202Leu)
c.334A>T (p.Met112Leu)
c.511A>T (p.Met171Leu)
c.486-17062T>A (n.486-17062T>A)
c.496A>T (p.Met166Leu)
9g.36246136T>CCA253719CLTA,GNEc.604A>G (p.Met202Val)
c.334A>G (p.Met112Val)
c.511A>G (p.Met171Val)
c.486-17062T>C (n.486-17062T>C)
c.496A>G (p.Met166Val)
 ClinVar dbSNP gnomAD v4
9g.36246136T>GCA373418365CLTA,GNEc.604A>C (p.Met202Leu)
c.334A>C (p.Met112Leu)
c.511A>C (p.Met171Leu)
c.486-17062T>G (n.486-17062T>G)
c.496A>C (p.Met166Leu)
9g.36246136T=CA1846375255CLTA,GNEc.604A= (p.Met202=)
c.334A= (p.Met112=)
c.511A= (p.Met171=)
c.486-17062T= (n.486-17062T=)
c.496A= (p.Met166=)
9g.36246137G>ACA464619824CLTA,GNEc.603C>T (p.Ser201=)
c.333C>T (p.Ser111=)
c.510C>T (p.Ser170=)
c.486-17061G>A (n.486-17061G>A)
c.495C>T (p.Ser165=)
9g.36246137G>CCA464619826CLTA,GNEc.603C>G (p.Ser201=)
c.333C>G (p.Ser111=)
c.510C>G (p.Ser170=)
c.486-17061G>C (n.486-17061G>C)
c.495C>G (p.Ser165=)
9g.36246137G>TCA464619825CLTA,GNEc.603C>A (p.Ser201=)
c.333C>A (p.Ser111=)
c.510C>A (p.Ser170=)
c.486-17061G>T (n.486-17061G>T)
c.495C>A (p.Ser165=)
9g.36246138G>ACA373418368CLTA,GNEc.602C>T (p.Ser201Phe)
c.332C>T (p.Ser111Phe)
c.509C>T (p.Ser170Phe)
c.486-17060G>A (n.486-17060G>A)
c.494C>T (p.Ser165Phe)
9g.36246138G>CCA373418370CLTA,GNEc.602C>G (p.Ser201Cys)
c.332C>G (p.Ser111Cys)
c.509C>G (p.Ser170Cys)
c.486-17060G>C (n.486-17060G>C)
c.494C>G (p.Ser165Cys)
9g.36246138G>TCA373418371CLTA,GNEc.602C>A (p.Ser201Tyr)
c.332C>A (p.Ser111Tyr)
c.509C>A (p.Ser170Tyr)
c.486-17060G>T (n.486-17060G>T)
c.494C>A (p.Ser165Tyr)
9g.36246139A>CCA373418375CLTA,GNEc.601T>G (p.Ser201Ala)
c.331T>G (p.Ser111Ala)
c.508T>G (p.Ser170Ala)
c.486-17059A>C (n.486-17059A>C)
c.493T>G (p.Ser165Ala)
9g.36246139A>GCA373418378CLTA,GNEc.601T>C (p.Ser201Pro)
c.331T>C (p.Ser111Pro)
c.508T>C (p.Ser170Pro)
c.486-17059A>G (n.486-17059A>G)
c.493T>C (p.Ser165Pro)
 gnomAD v4
9g.36246139A>TCA373418376CLTA,GNEc.601T>A (p.Ser201Thr)
c.331T>A (p.Ser111Thr)
c.508T>A (p.Ser170Thr)
c.486-17059A>T (n.486-17059A>T)
c.493T>A (p.Ser165Thr)
 gnomAD v4
9g.36246140T>ACA464619832CLTA,GNEc.600A>T (p.Ile200=)
c.330A>T (p.Ile110=)
c.507A>T (p.Ile169=)
c.486-17058T>A (n.486-17058T>A)
c.492A>T (p.Ile164=)
9g.36246140T>CCA373418380CLTA,GNEc.600A>G (p.Ile200Met)
c.330A>G (p.Ile110Met)
c.507A>G (p.Ile169Met)
c.486-17058T>C (n.486-17058T>C)
c.492A>G (p.Ile164Met)
9g.36246140T>GCA464619837CLTA,GNEc.600A>C (p.Ile200=)
c.330A>C (p.Ile110=)
c.507A>C (p.Ile169=)
c.486-17058T>G (n.486-17058T>G)
c.492A>C (p.Ile164=)
9g.36246141A>CCA373418385CLTA,GNEc.599T>G (p.Ile200Arg)
c.329T>G (p.Ile110Arg)
c.506T>G (p.Ile169Arg)
c.486-17057A>C (n.486-17057A>C)
c.491T>G (p.Ile164Arg)
9g.36246141A>GCA373418382CLTA,GNEc.599T>C (p.Ile200Thr)
c.329T>C (p.Ile110Thr)
c.506T>C (p.Ile169Thr)
c.486-17057A>G (n.486-17057A>G)
c.491T>C (p.Ile164Thr)
9g.36246141A>TCA373418387CLTA,GNEc.599T>A (p.Ile200Lys)
c.329T>A (p.Ile110Lys)
c.506T>A (p.Ile169Lys)
c.486-17057A>T (n.486-17057A>T)
c.491T>A (p.Ile164Lys)
9g.36246142T>ACA373418390CLTA,GNEc.598A>T (p.Ile200Leu)
c.328A>T (p.Ile110Leu)
c.505A>T (p.Ile169Leu)
c.486-17056T>A (n.486-17056T>A)
c.490A>T (p.Ile164Leu)
9g.36246142T>CCA373418391CLTA,GNEc.598A>G (p.Ile200Val)
c.328A>G (p.Ile110Val)
c.505A>G (p.Ile169Val)
c.486-17056T>C (n.486-17056T>C)
c.490A>G (p.Ile164Val)
9g.36246142T>GCA373418393CLTA,GNEc.598A>C (p.Ile200Leu)
c.328A>C (p.Ile110Leu)
c.505A>C (p.Ile169Leu)
c.486-17056T>G (n.486-17056T>G)
c.490A>C (p.Ile164Leu)
9g.36246143C>ACA464619844CLTA,GNEc.597G>T (p.Leu199=)
c.327G>T (p.Leu109=)
c.504G>T (p.Leu168=)
c.486-17055C>A (n.486-17055C>A)
c.489G>T (p.Leu163=)
9g.36246143C>GCA464619845CLTA,GNEc.597G>C (p.Leu199=)
c.327G>C (p.Leu109=)
c.504G>C (p.Leu168=)
c.486-17055C>G (n.486-17055C>G)
c.489G>C (p.Leu163=)
9g.36246143C>TCA464619846CLTA,GNEc.597G>A (p.Leu199=)
c.327G>A (p.Leu109=)
c.504G>A (p.Leu168=)
c.486-17055C>T (n.486-17055C>T)
c.489G>A (p.Leu163=)

Number of alleles fetched