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.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=)
9g.36246144A>CCA373418395CLTA,GNEc.596T>G (p.Leu199Arg)
c.326T>G (p.Leu109Arg)
c.503T>G (p.Leu168Arg)
c.486-17054A>C (n.486-17054A>C)
c.488T>G (p.Leu163Arg)
9g.36246144A>GCA373418396CLTA,GNEc.596T>C (p.Leu199Pro)
c.326T>C (p.Leu109Pro)
c.503T>C (p.Leu168Pro)
c.486-17054A>G (n.486-17054A>G)
c.488T>C (p.Leu163Pro)
 ClinVar
9g.36246144A>TCA373418397CLTA,GNEc.596T>A (p.Leu199Gln)
c.326T>A (p.Leu109Gln)
c.503T>A (p.Leu168Gln)
c.486-17054A>T (n.486-17054A>T)
c.488T>A (p.Leu163Gln)
9g.36246145G>ACA464619852CLTA,GNEc.595C>T (p.Leu199=)
c.325C>T (p.Leu109=)
c.502C>T (p.Leu168=)
c.486-17053G>A (n.486-17053G>A)
c.487C>T (p.Leu163=)
 gnomAD v4
9g.36246145G>CCA373418399CLTA,GNEc.595C>G (p.Leu199Val)
c.325C>G (p.Leu109Val)
c.502C>G (p.Leu168Val)
c.486-17053G>C (n.486-17053G>C)
c.487C>G (p.Leu163Val)
9g.36246145G>TCA373418401CLTA,GNEc.595C>A (p.Leu199Met)
c.325C>A (p.Leu109Met)
c.502C>A (p.Leu168Met)
c.486-17053G>T (n.486-17053G>T)
c.487C>A (p.Leu163Met)
9g.36246146G>ACA464619856CLTA,GNEc.594C>T (p.His198=)
c.324C>T (p.His108=)
c.501C>T (p.His167=)
c.486-17052G>A (n.486-17052G>A)
c.486C>T (p.His162=)
 ClinVar dbSNP gnomAD v4
9g.36246146G>CCA373418403CLTA,GNEc.594C>G (p.His198Gln)
c.324C>G (p.His108Gln)
c.501C>G (p.His167Gln)
c.486-17052G>C (n.486-17052G>C)
c.486C>G (p.His162Gln)
9g.36246146G=CA1846375263CLTA,GNEc.594C= (p.His198=)
c.324C= (p.His108=)
c.501C= (p.His167=)
c.486-17052G= (n.486-17052G=)
c.486C= (p.His162=)
9g.36246146G>TCA373418404CLTA,GNEc.594C>A (p.His198Gln)
c.324C>A (p.His108Gln)
c.501C>A (p.His167Gln)
c.486-17052G>T (n.486-17052G>T)
c.486C>A (p.His162Gln)
 ClinVar dbSNP
9g.36246147T>ACA373418405CLTA,GNEc.593A>T (p.His198Leu)
c.323A>T (p.His108Leu)
c.500A>T (p.His167Leu)
c.486-17051T>A (n.486-17051T>A)
c.485A>T (p.His162Leu)
9g.36246147T>CCA373418406CLTA,GNEc.593A>G (p.His198Arg)
c.323A>G (p.His108Arg)
c.500A>G (p.His167Arg)
c.486-17051T>C (n.486-17051T>C)
c.485A>G (p.His162Arg)
9g.36246147T>GCA373418407CLTA,GNEc.593A>C (p.His198Pro)
c.323A>C (p.His108Pro)
c.500A>C (p.His167Pro)
c.486-17051T>G (n.486-17051T>G)
c.485A>C (p.His162Pro)
9g.36246148G>ACA373418410CLTA,GNEc.592C>T (p.His198Tyr)
c.322C>T (p.His108Tyr)
c.499C>T (p.His167Tyr)
c.486-17050G>A (n.486-17050G>A)
c.484C>T (p.His162Tyr)
9g.36246148G>CCA373418413CLTA,GNEc.592C>G (p.His198Asp)
c.322C>G (p.His108Asp)
c.499C>G (p.His167Asp)
c.486-17050G>C (n.486-17050G>C)
c.484C>G (p.His162Asp)
9g.36246148G>TCA373418412CLTA,GNEc.592C>A (p.His198Asn)
c.322C>A (p.His108Asn)
c.499C>A (p.His167Asn)
c.486-17050G>T (n.486-17050G>T)
c.484C>A (p.His162Asn)
9g.36246149C>ACA373418416CLTA,GNEc.591G>T (p.Gln197His)
c.321G>T (p.Gln107His)
c.498G>T (p.Gln166His)
c.486-17049C>A (n.486-17049C>A)
c.483G>T (p.Gln161His)
9g.36246149C=CA1846375273CLTA,GNEc.591G= (p.Gln197=)
c.321G= (p.Gln107=)
c.498G= (p.Gln166=)
c.486-17049C= (n.486-17049C=)
c.483G= (p.Gln161=)
9g.36246149C>GCA373418418CLTA,GNEc.591G>C (p.Gln197His)
c.321G>C (p.Gln107His)
c.498G>C (p.Gln166His)
c.486-17049C>G (n.486-17049C>G)
c.483G>C (p.Gln161His)
 ClinVar dbSNP gnomAD v4
9g.36246149C>TCA464619860CLTA,GNEc.591G>A (p.Gln197=)
c.321G>A (p.Gln107=)
c.498G>A (p.Gln166=)
c.486-17049C>T (n.486-17049C>T)
c.483G>A (p.Gln161=)
9g.36246150T>ACA373418420CLTA,GNEc.590A>T (p.Gln197Leu)
c.320A>T (p.Gln107Leu)
c.497A>T (p.Gln166Leu)
c.486-17048T>A (n.486-17048T>A)
c.482A>T (p.Gln161Leu)
9g.36246150T>CCA373418422CLTA,GNEc.590A>G (p.Gln197Arg)
c.320A>G (p.Gln107Arg)
c.497A>G (p.Gln166Arg)
c.486-17048T>C (n.486-17048T>C)
c.482A>G (p.Gln161Arg)
9g.36246150T>GCA373418424CLTA,GNEc.590A>C (p.Gln197Pro)
c.320A>C (p.Gln107Pro)
c.497A>C (p.Gln166Pro)
c.486-17048T>G (n.486-17048T>G)
c.482A>C (p.Gln161Pro)
9g.36246151G>ACA373418427CLTA,GNEc.589C>T (p.Gln197Ter)
c.319C>T (p.Gln107Ter)
c.496C>T (p.Gln166Ter)
c.486-17047G>A (n.486-17047G>A)
c.481C>T (p.Gln161Ter)
9g.36246151G>CCA373418428CLTA,GNEc.589C>G (p.Gln197Glu)
c.319C>G (p.Gln107Glu)
c.496C>G (p.Gln166Glu)
c.486-17047G>C (n.486-17047G>C)
c.481C>G (p.Gln161Glu)
9g.36246151G>TCA373418430CLTA,GNEc.589C>A (p.Gln197Lys)
c.319C>A (p.Gln107Lys)
c.496C>A (p.Gln166Lys)
c.486-17047G>T (n.486-17047G>T)
c.481C>A (p.Gln161Lys)
9g.36246152C>ACA373418432CLTA,GNEc.588G>T (p.Glu196Asp)
c.318G>T (p.Glu106Asp)
c.495G>T (p.Glu165Asp)
c.486-17046C>A (n.486-17046C>A)
c.480G>T (p.Glu160Asp)
9g.36246152C>GCA373418434CLTA,GNEc.588G>C (p.Glu196Asp)
c.318G>C (p.Glu106Asp)
c.495G>C (p.Glu165Asp)
c.486-17046C>G (n.486-17046C>G)
c.480G>C (p.Glu160Asp)
9g.36246152C>TCA464619867CLTA,GNEc.588G>A (p.Glu196=)
c.318G>A (p.Glu106=)
c.495G>A (p.Glu165=)
c.486-17046C>T (n.486-17046C>T)
c.480G>A (p.Glu160=)
 ClinVar dbSNP gnomAD v4
9g.36246153T>ACA373418440CLTA,GNEc.587A>T (p.Glu196Val)
c.317A>T (p.Glu106Val)
c.494A>T (p.Glu165Val)
c.486-17045T>A (n.486-17045T>A)
c.479A>T (p.Glu160Val)
9g.36246153T>CCA373418438CLTA,GNEc.587A>G (p.Glu196Gly)
c.317A>G (p.Glu106Gly)
c.494A>G (p.Glu165Gly)
c.486-17045T>C (n.486-17045T>C)
c.479A>G (p.Glu160Gly)
9g.36246153T>GCA373418436CLTA,GNEc.587A>C (p.Glu196Ala)
c.317A>C (p.Glu106Ala)
c.494A>C (p.Glu165Ala)
c.486-17045T>G (n.486-17045T>G)
c.479A>C (p.Glu160Ala)
9g.36246154C>ACA373418442CLTA,GNEc.586G>T (p.Glu196Ter)
c.316G>T (p.Glu106Ter)
c.493G>T (p.Glu165Ter)
c.486-17044C>A (n.486-17044C>A)
c.478G>T (p.Glu160Ter)
9g.36246154C>GCA373418443CLTA,GNEc.586G>C (p.Glu196Gln)
c.316G>C (p.Glu106Gln)
c.493G>C (p.Glu165Gln)
c.486-17044C>G (n.486-17044C>G)
c.478G>C (p.Glu160Gln)
9g.36246154C>TCA373418445CLTA,GNEc.586G>A (p.Glu196Lys)
c.316G>A (p.Glu106Lys)
c.493G>A (p.Glu165Lys)
c.486-17044C>T (n.486-17044C>T)
c.478G>A (p.Glu160Lys)
9g.36246155T>ACA464619875CLTA,GNEc.585A>T (p.Ala195=)
c.315A>T (p.Ala105=)
c.492A>T (p.Ala164=)
c.486-17043T>A (n.486-17043T>A)
c.477A>T (p.Ala159=)
9g.36246155T>CCA464619878CLTA,GNEc.585A>G (p.Ala195=)
c.315A>G (p.Ala105=)
c.492A>G (p.Ala164=)
c.486-17043T>C (n.486-17043T>C)
c.477A>G (p.Ala159=)
9g.36246155T>GCA464619877CLTA,GNEc.585A>C (p.Ala195=)
c.315A>C (p.Ala105=)
c.492A>C (p.Ala164=)
c.486-17043T>G (n.486-17043T>G)
c.477A>C (p.Ala159=)
9g.36246156G>ACA373418448CLTA,GNEc.584C>T (p.Ala195Val)
c.314C>T (p.Ala105Val)
c.491C>T (p.Ala164Val)
c.486-17042G>A (n.486-17042G>A)
c.476C>T (p.Ala159Val)
 dbSNP gnomAD v2 gnomAD v4
9g.36246156G>CCA373418450CLTA,GNEc.584C>G (p.Ala195Gly)
c.314C>G (p.Ala105Gly)
c.491C>G (p.Ala164Gly)
c.486-17042G>C (n.486-17042G>C)
c.476C>G (p.Ala159Gly)
9g.36246156G=CA1846375276CLTA,GNEc.584C= (p.Ala195=)
c.314C= (p.Ala105=)
c.491C= (p.Ala164=)
c.486-17042G= (n.486-17042G=)
c.476C= (p.Ala159=)
9g.36246156G>TCA373418451CLTA,GNEc.584C>A (p.Ala195Glu)
c.314C>A (p.Ala105Glu)
c.491C>A (p.Ala164Glu)
c.486-17042G>T (n.486-17042G>T)
c.476C>A (p.Ala159Glu)
9g.36246157C>ACA373418454CLTA,GNEc.583G>T (p.Ala195Ser)
c.313G>T (p.Ala105Ser)
c.490G>T (p.Ala164Ser)
c.486-17041C>A (n.486-17041C>A)
c.475G>T (p.Ala159Ser)
9g.36246157C>GCA373418456CLTA,GNEc.583G>C (p.Ala195Pro)
c.313G>C (p.Ala105Pro)
c.490G>C (p.Ala164Pro)
c.486-17041C>G (n.486-17041C>G)
c.475G>C (p.Ala159Pro)
9g.36246157C>TCA373418458CLTA,GNEc.583G>A (p.Ala195Thr)
c.313G>A (p.Ala105Thr)
c.490G>A (p.Ala164Thr)
c.486-17041C>T (n.486-17041C>T)
c.475G>A (p.Ala159Thr)
 ClinVar COSMIC COSMIC COSMIC
9g.36246158A=CA1846375280CLTA,GNEc.582T= (p.Ser194=)
c.312T= (p.Ser104=)
c.489T= (p.Ser163=)
c.486-17040A= (n.486-17040A=)
c.474T= (p.Ser158=)
9g.36246158A>CCA373418460CLTA,GNEc.582T>G (p.Ser194Arg)
c.312T>G (p.Ser104Arg)
c.489T>G (p.Ser163Arg)
c.486-17040A>C (n.486-17040A>C)
c.474T>G (p.Ser158Arg)
9g.36246158A>GCA5056719CLTA,GNEc.582T>C (p.Ser194=)
c.312T>C (p.Ser104=)
c.489T>C (p.Ser163=)
c.486-17040A>G (n.486-17040A>G)
c.474T>C (p.Ser158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246158A>TCA373418463CLTA,GNEc.582T>A (p.Ser194Arg)
c.312T>A (p.Ser104Arg)
c.489T>A (p.Ser163Arg)
c.486-17040A>T (n.486-17040A>T)
c.474T>A (p.Ser158Arg)
9g.36246159C>ACA373418468CLTA,GNEc.581G>T (p.Ser194Ile)
c.311G>T (p.Ser104Ile)
c.488G>T (p.Ser163Ile)
c.486-17039C>A (n.486-17039C>A)
c.473G>T (p.Ser158Ile)
9g.36246159C>GCA373418466CLTA,GNEc.581G>C (p.Ser194Thr)
c.311G>C (p.Ser104Thr)
c.488G>C (p.Ser163Thr)
c.486-17039C>G (n.486-17039C>G)
c.473G>C (p.Ser158Thr)
9g.36246159C>TCA373418464CLTA,GNEc.581G>A (p.Ser194Asn)
c.311G>A (p.Ser104Asn)
c.488G>A (p.Ser163Asn)
c.486-17039C>T (n.486-17039C>T)
c.473G>A (p.Ser158Asn)
9g.36246160T>ACA373418470CLTA,GNEc.580A>T (p.Ser194Cys)
c.310A>T (p.Ser104Cys)
c.487A>T (p.Ser163Cys)
c.486-17038T>A (n.486-17038T>A)
c.472A>T (p.Ser158Cys)
9g.36246160T>CCA5056720CLTA,GNEc.580A>G (p.Ser194Gly)
c.310A>G (p.Ser104Gly)
c.487A>G (p.Ser163Gly)
c.486-17038T>C (n.486-17038T>C)
c.472A>G (p.Ser158Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246160T>GCA373418473CLTA,GNEc.580A>C (p.Ser194Arg)
c.310A>C (p.Ser104Arg)
c.487A>C (p.Ser163Arg)
c.486-17038T>G (n.486-17038T>G)
c.472A>C (p.Ser158Arg)
9g.36246160T=CA1846375285CLTA,GNEc.580A= (p.Ser194=)
c.310A= (p.Ser104=)
c.487A= (p.Ser163=)
c.486-17038T= (n.486-17038T=)
c.472A= (p.Ser158=)
9g.36246161G>ACA464619885CLTA,GNEc.579C>T (p.Arg193=)
c.309C>T (p.Arg103=)
c.486C>T (p.Arg162=)
c.486-17037G>A (n.486-17037G>A)
c.471C>T (p.Arg157=)
 dbSNP gnomAD v2 gnomAD v4
9g.36246161G>CCA464619886CLTA,GNEc.579C>G (p.Arg193=)
c.309C>G (p.Arg103=)
c.486C>G (p.Arg162=)
c.486-17037G>C (n.486-17037G>C)
c.471C>G (p.Arg157=)
9g.36246161G=CA1846375289CLTA,GNEc.579C= (p.Arg193=)
c.309C= (p.Arg103=)
c.486C= (p.Arg162=)
c.486-17037G= (n.486-17037G=)
c.471C= (p.Arg157=)
9g.36246161G>TCA464619887CLTA,GNEc.579C>A (p.Arg193=)
c.309C>A (p.Arg103=)
c.486C>A (p.Arg162=)
c.486-17037G>T (n.486-17037G>T)
c.471C>A (p.Arg157=)
9g.36246162C>ACA373418475CLTA,GNEc.578G>T (p.Arg193Leu)
c.308G>T (p.Arg103Leu)
c.485G>T (p.Arg162Leu)
c.486-17036C>A (n.486-17036C>A)
c.470G>T (p.Arg157Leu)
9g.36246162C=CA1846375291CLTA,GNEc.578G= (p.Arg193=)
c.308G= (p.Arg103=)
c.485G= (p.Arg162=)
c.486-17036C= (n.486-17036C=)
c.470G= (p.Arg157=)
9g.36246162C>GCA373418477CLTA,GNEc.578G>C (p.Arg193Pro)
c.308G>C (p.Arg103Pro)
c.485G>C (p.Arg162Pro)
c.486-17036C>G (n.486-17036C>G)
c.470G>C (p.Arg157Pro)
9g.36246162C>TCA5056721CLTA,GNEc.578G>A (p.Arg193His)
c.308G>A (p.Arg103His)
c.485G>A (p.Arg162His)
c.486-17036C>T (n.486-17036C>T)
c.470G>A (p.Arg157His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246163G>ACA5056722CLTA,GNEc.577C>T (p.Arg193Cys)
c.307C>T (p.Arg103Cys)
c.484C>T (p.Arg162Cys)
c.486-17035G>A (n.486-17035G>A)
c.469C>T (p.Arg157Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246163G>CCA373418481CLTA,GNEc.577C>G (p.Arg193Gly)
c.307C>G (p.Arg103Gly)
c.484C>G (p.Arg162Gly)
c.486-17035G>C (n.486-17035G>C)
c.469C>G (p.Arg157Gly)
 dbSNP gnomAD v2 gnomAD v4
9g.36246163G=CA1846375295CLTA,GNEc.577C= (p.Arg193=)
c.307C= (p.Arg103=)
c.484C= (p.Arg162=)
c.486-17035G= (n.486-17035G=)
c.469C= (p.Arg157=)
9g.36246163G>TCA373418484CLTA,GNEc.577C>A (p.Arg193Ser)
c.307C>A (p.Arg103Ser)
c.484C>A (p.Arg162Ser)
c.486-17035G>T (n.486-17035G>T)
c.469C>A (p.Arg157Ser)
9g.36246164G>ACA464619891CLTA,GNEc.576C>T (p.Thr192=)
c.306C>T (p.Thr102=)
c.483C>T (p.Thr161=)
c.486-17034G>A (n.486-17034G>A)
c.468C>T (p.Thr156=)
 dbSNP gnomAD v2 gnomAD v4
9g.36246164G>CCA464619892CLTA,GNEc.576C>G (p.Thr192=)
c.306C>G (p.Thr102=)
c.483C>G (p.Thr161=)
c.486-17034G>C (n.486-17034G>C)
c.468C>G (p.Thr156=)
9g.36246164G=CA1846375298CLTA,GNEc.576C= (p.Thr192=)
c.306C= (p.Thr102=)
c.483C= (p.Thr161=)
c.486-17034G= (n.486-17034G=)
c.468C= (p.Thr156=)
9g.36246164G>TCA464619893CLTA,GNEc.576C>A (p.Thr192=)
c.306C>A (p.Thr102=)
c.483C>A (p.Thr161=)
c.486-17034G>T (n.486-17034G>T)
c.468C>A (p.Thr156=)
9g.36246165G>ACA373418486CLTA,GNEc.575C>T (p.Thr192Ile)
c.305C>T (p.Thr102Ile)
c.482C>T (p.Thr161Ile)
c.486-17033G>A (n.486-17033G>A)
c.467C>T (p.Thr156Ile)
9g.36246165G>CCA373418487CLTA,GNEc.575C>G (p.Thr192Ser)
c.305C>G (p.Thr102Ser)
c.482C>G (p.Thr161Ser)
c.486-17033G>C (n.486-17033G>C)
c.467C>G (p.Thr156Ser)
9g.36246165G>TCA373418489CLTA,GNEc.575C>A (p.Thr192Asn)
c.305C>A (p.Thr102Asn)
c.482C>A (p.Thr161Asn)
c.486-17033G>T (n.486-17033G>T)
c.467C>A (p.Thr156Asn)
9g.36246166T>ACA373418494CLTA,GNEc.574A>T (p.Thr192Ser)
c.304A>T (p.Thr102Ser)
c.481A>T (p.Thr161Ser)
c.486-17032T>A (n.486-17032T>A)
c.466A>T (p.Thr156Ser)
9g.36246166T>CCA373418492CLTA,GNEc.574A>G (p.Thr192Ala)
c.304A>G (p.Thr102Ala)
c.481A>G (p.Thr161Ala)
c.486-17032T>C (n.486-17032T>C)
c.466A>G (p.Thr156Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246166T>GCA373418491CLTA,GNEc.574A>C (p.Thr192Pro)
c.304A>C (p.Thr102Pro)
c.481A>C (p.Thr161Pro)
c.486-17032T>G (n.486-17032T>G)
c.466A>C (p.Thr156Pro)
 dbSNP gnomAD v2 gnomAD v4
9g.36246166T=CA1846375305CLTA,GNEc.574A= (p.Thr192=)
c.304A= (p.Thr102=)
c.481A= (p.Thr161=)
c.486-17032T= (n.486-17032T=)
c.466A= (p.Thr156=)
9g.36246167G>ACA464619898CLTA,GNEc.573C>T (p.Cys191=)
c.303C>T (p.Cys101=)
c.480C>T (p.Cys160=)
c.486-17031G>A (n.486-17031G>A)
c.465C>T (p.Cys155=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246167G>CCA373418496CLTA,GNEc.573C>G (p.Cys191Trp)
c.303C>G (p.Cys101Trp)
c.480C>G (p.Cys160Trp)
c.486-17031G>C (n.486-17031G>C)
c.465C>G (p.Cys155Trp)
9g.36246167G=CA1846375310CLTA,GNEc.573C= (p.Cys191=)
c.303C= (p.Cys101=)
c.480C= (p.Cys160=)
c.486-17031G= (n.486-17031G=)
c.465C= (p.Cys155=)
9g.36246167G>TCA373418497CLTA,GNEc.573C>A (p.Cys191Ter)
c.303C>A (p.Cys101Ter)
c.480C>A (p.Cys160Ter)
c.486-17031G>T (n.486-17031G>T)
c.465C>A (p.Cys155Ter)
9g.36246168C>ACA373418499CLTA,GNEc.572G>T (p.Cys191Phe)
c.302G>T (p.Cys101Phe)
c.479G>T (p.Cys160Phe)
c.486-17030C>A (n.486-17030C>A)
c.464G>T (p.Cys155Phe)
9g.36246168C>GCA373418501CLTA,GNEc.572G>C (p.Cys191Ser)
c.302G>C (p.Cys101Ser)
c.479G>C (p.Cys160Ser)
c.486-17030C>G (n.486-17030C>G)
c.464G>C (p.Cys155Ser)
9g.36246168C>TCA373418503CLTA,GNEc.572G>A (p.Cys191Tyr)
c.302G>A (p.Cys101Tyr)
c.479G>A (p.Cys160Tyr)
c.486-17030C>T (n.486-17030C>T)
c.464G>A (p.Cys155Tyr)
9g.36246169A=CA1846375313CLTA,GNEc.571T= (p.Cys191=)
c.301T= (p.Cys101=)
c.478T= (p.Cys160=)
c.486-17029A= (n.486-17029A=)
c.463T= (p.Cys155=)
9g.36246169A>CCA373418505CLTA,GNEc.571T>G (p.Cys191Gly)
c.301T>G (p.Cys101Gly)
c.478T>G (p.Cys160Gly)
c.486-17029A>C (n.486-17029A>C)
c.463T>G (p.Cys155Gly)
9g.36246169A>GCA373418507CLTA,GNEc.571T>C (p.Cys191Arg)
c.301T>C (p.Cys101Arg)
c.478T>C (p.Cys160Arg)
c.486-17029A>G (n.486-17029A>G)
c.463T>C (p.Cys155Arg)
 dbSNP gnomAD v2
9g.36246169A>TCA373418509CLTA,GNEc.571T>A (p.Cys191Ser)
c.301T>A (p.Cys101Ser)
c.478T>A (p.Cys160Ser)
c.486-17029A>T (n.486-17029A>T)
c.463T>A (p.Cys155Ser)
9g.36246170G>ACA464619901CLTA,GNEc.570C>T (p.Cys190=)
c.300C>T (p.Cys100=)
c.477C>T (p.Cys159=)
c.486-17028G>A (n.486-17028G>A)
c.462C>T (p.Cys154=)
 gnomAD v4
9g.36246170G>CCA373418511CLTA,GNEc.570C>G (p.Cys190Trp)
c.300C>G (p.Cys100Trp)
c.477C>G (p.Cys159Trp)
c.486-17028G>C (n.486-17028G>C)
c.462C>G (p.Cys154Trp)
9g.36246170G>TCA373418513CLTA,GNEc.570C>A (p.Cys190Ter)
c.300C>A (p.Cys100Ter)
c.477C>A (p.Cys159Ter)
c.486-17028G>T (n.486-17028G>T)
c.462C>A (p.Cys154Ter)
9g.36246171C>ACA373418515CLTA,GNEc.569G>T (p.Cys190Phe)
c.299G>T (p.Cys100Phe)
c.476G>T (p.Cys159Phe)
c.486-17027C>A (n.486-17027C>A)
c.461G>T (p.Cys154Phe)
9g.36246171C>GCA373418517CLTA,GNEc.569G>C (p.Cys190Ser)
c.299G>C (p.Cys100Ser)
c.476G>C (p.Cys159Ser)
c.486-17027C>G (n.486-17027C>G)
c.461G>C (p.Cys154Ser)
 ClinVar
9g.36246171C>TCA373418518CLTA,GNEc.569G>A (p.Cys190Tyr)
c.299G>A (p.Cys100Tyr)
c.476G>A (p.Cys159Tyr)
c.486-17027C>T (n.486-17027C>T)
c.461G>A (p.Cys154Tyr)
9g.36246172A>CCA373418522CLTA,GNEc.568T>G (p.Cys190Gly)
c.298T>G (p.Cys100Gly)
c.475T>G (p.Cys159Gly)
c.486-17026A>C (n.486-17026A>C)
c.460T>G (p.Cys154Gly)
9g.36246172A>GCA373418523CLTA,GNEc.568T>C (p.Cys190Arg)
c.298T>C (p.Cys100Arg)
c.475T>C (p.Cys159Arg)
c.486-17026A>G (n.486-17026A>G)
c.460T>C (p.Cys154Arg)
 gnomAD v4 COSMIC COSMIC COSMIC
9g.36246172A>TCA373418526CLTA,GNEc.568T>A (p.Cys190Ser)
c.298T>A (p.Cys100Ser)
c.475T>A (p.Cys159Ser)
c.486-17026A>T (n.486-17026A>T)
c.460T>A (p.Cys154Ser)
9g.36246173C>ACA464619907CLTA,GNEc.567G>T (p.Val189=)
c.297G>T (p.Val99=)
c.474G>T (p.Val158=)
c.486-17025C>A (n.486-17025C>A)
c.459G>T (p.Val153=)
9g.36246173C=CA1846375315CLTA,GNEc.567G= (p.Val189=)
c.297G= (p.Val99=)
c.474G= (p.Val158=)
c.486-17025C= (n.486-17025C=)
c.459G= (p.Val153=)
9g.36246173C>GCA5056723CLTA,GNEc.567G>C (p.Val189=)
c.297G>C (p.Val99=)
c.474G>C (p.Val158=)
c.486-17025C>G (n.486-17025C>G)
c.459G>C (p.Val153=)
 ClinVar dbSNP ExAC gnomAD v2
9g.36246173C>TCA464619910CLTA,GNEc.567G>A (p.Val189=)
c.297G>A (p.Val99=)
c.474G>A (p.Val158=)
c.486-17025C>T (n.486-17025C>T)
c.459G>A (p.Val153=)
 ClinVar
9g.36246174A>CCA373418529CLTA,GNEc.566T>G (p.Val189Gly)
c.296T>G (p.Val99Gly)
c.473T>G (p.Val158Gly)
c.486-17024A>C (n.486-17024A>C)
c.458T>G (p.Val153Gly)
9g.36246174A>GCA373418530CLTA,GNEc.566T>C (p.Val189Ala)
c.296T>C (p.Val99Ala)
c.473T>C (p.Val158Ala)
c.486-17024A>G (n.486-17024A>G)
c.458T>C (p.Val153Ala)
9g.36246174A>TCA373418533CLTA,GNEc.566T>A (p.Val189Glu)
c.296T>A (p.Val99Glu)
c.473T>A (p.Val158Glu)
c.486-17024A>T (n.486-17024A>T)
c.458T>A (p.Val153Glu)
9g.36246175C>ACA373418535CLTA,GNEc.565G>T (p.Val189Leu)
c.295G>T (p.Val99Leu)
c.472G>T (p.Val158Leu)
c.486-17023C>A (n.486-17023C>A)
c.457G>T (p.Val153Leu)
9g.36246175C>GCA373418537CLTA,GNEc.565G>C (p.Val189Leu)
c.295G>C (p.Val99Leu)
c.472G>C (p.Val158Leu)
c.486-17023C>G (n.486-17023C>G)
c.457G>C (p.Val153Leu)
9g.36246175C>TCA373418539CLTA,GNEc.565G>A (p.Val189Met)
c.295G>A (p.Val99Met)
c.472G>A (p.Val158Met)
c.486-17023C>T (n.486-17023C>T)
c.457G>A (p.Val153Met)
9g.36246175_36246177delinsCATCA1846375321CLTA,GNEc.563_565delinsATG (p.His188=)
c.293_295delinsATG (p.His98=)
c.470_472delinsATG (p.His157=)
c.486-17023_486-17021delinsCAT (n.486-17023_486-17021delinsCAT)
c.455_457delinsATG (p.His152=)
9g.36246176A=CA1846375327CLTA,GNEc.564T= (p.His188=)
c.294T= (p.His98=)
c.471T= (p.His157=)
c.486-17022A= (n.486-17022A=)
c.456T= (p.His152=)
9g.36246176A>CCA373418541CLTA,GNEc.564T>G (p.His188Gln)
c.294T>G (p.His98Gln)
c.471T>G (p.His157Gln)
c.486-17022A>C (n.486-17022A>C)
c.456T>G (p.His152Gln)
9g.36246176A>GCA5056724CLTA,GNEc.564T>C (p.His188=)
c.294T>C (p.His98=)
c.471T>C (p.His157=)
c.486-17022A>G (n.486-17022A>G)
c.456T>C (p.His152=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246176A>TCA373418544CLTA,GNEc.564T>A (p.His188Gln)
c.294T>A (p.His98Gln)
c.471T>A (p.His157Gln)
c.486-17022A>T (n.486-17022A>T)
c.456T>A (p.His152Gln)
9g.36246176_36246177delCA658797205CLTA,GNEc.563_564del (p.His188ArgfsTer16)
c.293_294del (p.His98ArgfsTer16)
c.470_471del (p.His157ArgfsTer16)
c.486-17022_486-17021del (n.486-17022_486-17021del)
c.455_456del (p.His152ArgfsTer16)
 ClinVar dbSNP gnomAD v4
9g.36246177T>ACA373418546CLTA,GNEc.563A>T (p.His188Leu)
c.293A>T (p.His98Leu)
c.470A>T (p.His157Leu)
c.486-17021T>A (n.486-17021T>A)
c.455A>T (p.His152Leu)
9g.36246177T>CCA373418548CLTA,GNEc.563A>G (p.His188Arg)
c.293A>G (p.His98Arg)
c.470A>G (p.His157Arg)
c.486-17021T>C (n.486-17021T>C)
c.455A>G (p.His152Arg)
9g.36246177T>GCA373418550CLTA,GNEc.563A>C (p.His188Pro)
c.293A>C (p.His98Pro)
c.470A>C (p.His157Pro)
c.486-17021T>G (n.486-17021T>G)
c.455A>C (p.His152Pro)
9g.36246178G>ACA373418556CLTA,GNEc.562C>T (p.His188Tyr)
c.292C>T (p.His98Tyr)
c.469C>T (p.His157Tyr)
c.486-17020G>A (n.486-17020G>A)
c.454C>T (p.His152Tyr)
 ClinVar gnomAD v4
9g.36246178G>CCA373418554CLTA,GNEc.562C>G (p.His188Asp)
c.292C>G (p.His98Asp)
c.469C>G (p.His157Asp)
c.486-17020G>C (n.486-17020G>C)
c.454C>G (p.His152Asp)
9g.36246178G=CA1846375332CLTA,GNEc.562C= (p.His188=)
c.292C= (p.His98=)
c.469C= (p.His157=)
c.486-17020G= (n.486-17020G=)
c.454C= (p.His152=)
9g.36246178G>TCA373418552CLTA,GNEc.562C>A (p.His188Asn)
c.292C>A (p.His98Asn)
c.469C>A (p.His157Asn)
c.486-17020G>T (n.486-17020G>T)
c.454C>A (p.His152Asn)
 ClinVar dbSNP
9g.36246179A=CA1846375334CLTA,GNEc.561T= (p.Tyr187=)
c.291T= (p.Tyr97=)
c.468T= (p.Tyr156=)
c.486-17019A= (n.486-17019A=)
c.453T= (p.Tyr151=)
9g.36246179A>CCA373418559CLTA,GNEc.561T>G (p.Tyr187Ter)
c.291T>G (p.Tyr97Ter)
c.468T>G (p.Tyr156Ter)
c.486-17019A>C (n.486-17019A>C)
c.453T>G (p.Tyr151Ter)
9g.36246179A>GCA464619919CLTA,GNEc.561T>C (p.Tyr187=)
c.291T>C (p.Tyr97=)
c.468T>C (p.Tyr156=)
c.486-17019A>G (n.486-17019A>G)
c.453T>C (p.Tyr151=)
 dbSNP
9g.36246179A>TCA373418560CLTA,GNEc.561T>A (p.Tyr187Ter)
c.291T>A (p.Tyr97Ter)
c.468T>A (p.Tyr156Ter)
c.486-17019A>T (n.486-17019A>T)
c.453T>A (p.Tyr151Ter)
9g.36246180T>ACA373418562CLTA,GNEc.560A>T (p.Tyr187Phe)
c.290A>T (p.Tyr97Phe)
c.467A>T (p.Tyr156Phe)
c.486-17018T>A (n.486-17018T>A)
c.452A>T (p.Tyr151Phe)
9g.36246180T>CCA373418564CLTA,GNEc.560A>G (p.Tyr187Cys)
c.290A>G (p.Tyr97Cys)
c.467A>G (p.Tyr156Cys)
c.486-17018T>C (n.486-17018T>C)
c.452A>G (p.Tyr151Cys)
 ClinVar dbSNP
9g.36246180T>GCA373418565CLTA,GNEc.560A>C (p.Tyr187Ser)
c.290A>C (p.Tyr97Ser)
c.467A>C (p.Tyr156Ser)
c.486-17018T>G (n.486-17018T>G)
c.452A>C (p.Tyr151Ser)
9g.36246180dupCA2689947823CLTA,GNEc.560dup (p.Tyr187Ter)
c.290dup (p.Tyr97Ter)
c.467dup (p.Tyr156Ter)
c.486-17018dup (n.486-17018dup)
c.452dup (p.Tyr151Ter)
 gnomAD v4
9g.36246181A=CA1846375339CLTA,GNEc.559T= (p.Tyr187=)
c.289T= (p.Tyr97=)
c.466T= (p.Tyr156=)
c.486-17017A= (n.486-17017A=)
c.451T= (p.Tyr151=)
9g.36246181A>CCA373418567CLTA,GNEc.559T>G (p.Tyr187Asp)
c.289T>G (p.Tyr97Asp)
c.466T>G (p.Tyr156Asp)
c.486-17017A>C (n.486-17017A>C)
c.451T>G (p.Tyr151Asp)
9g.36246181A>GCA243356CLTA,GNEc.559T>C (p.Tyr187His)
c.289T>C (p.Tyr97His)
c.466T>C (p.Tyr156His)
c.486-17017A>G (n.486-17017A>G)
c.451T>C (p.Tyr151His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246181A>TCA373418570CLTA,GNEc.559T>A (p.Tyr187Asn)
c.289T>A (p.Tyr97Asn)
c.466T>A (p.Tyr156Asn)
c.486-17017A>T (n.486-17017A>T)
c.451T>A (p.Tyr151Asn)

Number of alleles fetched