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.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)
9g.36246182A>CCA373418572CLTA,GNEc.558T>G (p.His186Gln)
c.288T>G (p.His96Gln)
c.465T>G (p.His155Gln)
c.486-17016A>C (n.486-17016A>C)
c.450T>G (p.His150Gln)
9g.36246182A>GCA464619925CLTA,GNEc.558T>C (p.His186=)
c.288T>C (p.His96=)
c.465T>C (p.His155=)
c.486-17016A>G (n.486-17016A>G)
c.450T>C (p.His150=)
 gnomAD v4
9g.36246182A>TCA373418573CLTA,GNEc.558T>A (p.His186Gln)
c.288T>A (p.His96Gln)
c.465T>A (p.His155Gln)
c.486-17016A>T (n.486-17016A>T)
c.450T>A (p.His150Gln)
9g.36246183T>ACA373418575CLTA,GNEc.557A>T (p.His186Leu)
c.287A>T (p.His96Leu)
c.464A>T (p.His155Leu)
c.486-17015T>A (n.486-17015T>A)
c.449A>T (p.His150Leu)
9g.36246183T>CCA373418577CLTA,GNEc.557A>G (p.His186Arg)
c.287A>G (p.His96Arg)
c.464A>G (p.His155Arg)
c.486-17015T>C (n.486-17015T>C)
c.449A>G (p.His150Arg)
9g.36246183T>GCA373418579CLTA,GNEc.557A>C (p.His186Pro)
c.287A>C (p.His96Pro)
c.464A>C (p.His155Pro)
c.486-17015T>G (n.486-17015T>G)
c.449A>C (p.His150Pro)
9g.36246183T=CA1846375341CLTA,GNEc.557A= (p.His186=)
c.287A= (p.His96=)
c.464A= (p.His155=)
c.486-17015T= (n.486-17015T=)
c.449A= (p.His150=)
9g.36246184G>ACA373418585CLTA,GNEc.556C>T (p.His186Tyr)
c.286C>T (p.His96Tyr)
c.463C>T (p.His155Tyr)
c.486-17014G>A (n.486-17014G>A)
c.448C>T (p.His150Tyr)
 gnomAD v4
9g.36246184G>CCA373418581CLTA,GNEc.556C>G (p.His186Asp)
c.286C>G (p.His96Asp)
c.463C>G (p.His155Asp)
c.486-17014G>C (n.486-17014G>C)
c.448C>G (p.His150Asp)
9g.36246184G>TCA373418583CLTA,GNEc.556C>A (p.His186Asn)
c.286C>A (p.His96Asn)
c.463C>A (p.His155Asn)
c.486-17014G>T (n.486-17014G>T)
c.448C>A (p.His150Asn)
9g.36246184dupCA1846375343CLTA,GNEc.556dup (p.His186ProfsTer19)
c.286dup (p.His96ProfsTer19)
c.463dup (p.His155ProfsTer19)
c.486-17014dup (n.486-17014dup)
c.448dup (p.His150ProfsTer19)
 dbSNP
9g.36246185A=CA1846375351CLTA,GNEc.555T= (p.Ala185=)
c.285T= (p.Ala95=)
c.462T= (p.Ala154=)
c.486-17013A= (n.486-17013A=)
c.447T= (p.Ala149=)
9g.36246185A>CCA464619926CLTA,GNEc.555T>G (p.Ala185=)
c.285T>G (p.Ala95=)
c.462T>G (p.Ala154=)
c.486-17013A>C (n.486-17013A>C)
c.447T>G (p.Ala149=)
9g.36246185A>GCA464619927CLTA,GNEc.555T>C (p.Ala185=)
c.285T>C (p.Ala95=)
c.462T>C (p.Ala154=)
c.486-17013A>G (n.486-17013A>G)
c.447T>C (p.Ala149=)
9g.36246185A>TCA5056725CLTA,GNEc.555T>A (p.Ala185=)
c.285T>A (p.Ala95=)
c.462T>A (p.Ala154=)
c.486-17013A>T (n.486-17013A>T)
c.447T>A (p.Ala149=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246186G>ACA373418589CLTA,GNEc.554C>T (p.Ala185Val)
c.284C>T (p.Ala95Val)
c.461C>T (p.Ala154Val)
c.486-17012G>A (n.486-17012G>A)
c.446C>T (p.Ala149Val)
9g.36246186G>CCA373418591CLTA,GNEc.554C>G (p.Ala185Gly)
c.284C>G (p.Ala95Gly)
c.461C>G (p.Ala154Gly)
c.486-17012G>C (n.486-17012G>C)
c.446C>G (p.Ala149Gly)
9g.36246186G>TCA373418592CLTA,GNEc.554C>A (p.Ala185Asp)
c.284C>A (p.Ala95Asp)
c.461C>A (p.Ala154Asp)
c.486-17012G>T (n.486-17012G>T)
c.446C>A (p.Ala149Asp)
9g.36246187C>ACA373418595CLTA,GNEc.553G>T (p.Ala185Ser)
c.283G>T (p.Ala95Ser)
c.460G>T (p.Ala154Ser)
c.486-17011C>A (n.486-17011C>A)
c.445G>T (p.Ala149Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36246187C=CA1846375370CLTA,GNEc.553G= (p.Ala185=)
c.283G= (p.Ala95=)
c.460G= (p.Ala154=)
c.486-17011C= (n.486-17011C=)
c.445G= (p.Ala149=)
9g.36246187C>GCA373418597CLTA,GNEc.553G>C (p.Ala185Pro)
c.283G>C (p.Ala95Pro)
c.460G>C (p.Ala154Pro)
c.486-17011C>G (n.486-17011C>G)
c.445G>C (p.Ala149Pro)
9g.36246187C>TCA373418599CLTA,GNEc.553G>A (p.Ala185Thr)
c.283G>A (p.Ala95Thr)
c.460G>A (p.Ala154Thr)
c.486-17011C>T (n.486-17011C>T)
c.445G>A (p.Ala149Thr)
9g.36246188C>ACA464619931CLTA,GNEc.552G>T (p.Leu184=)
c.282G>T (p.Leu94=)
c.459G>T (p.Leu153=)
c.486-17010C>A (n.486-17010C>A)
c.444G>T (p.Leu148=)
 gnomAD v4
9g.36246188C=CA1846375373CLTA,GNEc.552G= (p.Leu184=)
c.282G= (p.Leu94=)
c.459G= (p.Leu153=)
c.486-17010C= (n.486-17010C=)
c.444G= (p.Leu148=)
9g.36246188C>GCA464619932CLTA,GNEc.552G>C (p.Leu184=)
c.282G>C (p.Leu94=)
c.459G>C (p.Leu153=)
c.486-17010C>G (n.486-17010C>G)
c.444G>C (p.Leu148=)
9g.36246188C>TCA464619933CLTA,GNEc.552G>A (p.Leu184=)
c.282G>A (p.Leu94=)
c.459G>A (p.Leu153=)
c.486-17010C>T (n.486-17010C>T)
c.444G>A (p.Leu148=)
 dbSNP gnomAD v3 gnomAD v4
9g.36246189A>CCA373418600CLTA,GNEc.551T>G (p.Leu184Arg)
c.281T>G (p.Leu94Arg)
c.458T>G (p.Leu153Arg)
c.486-17009A>C (n.486-17009A>C)
c.443T>G (p.Leu148Arg)
9g.36246189A>GCA373418602CLTA,GNEc.551T>C (p.Leu184Pro)
c.281T>C (p.Leu94Pro)
c.458T>C (p.Leu153Pro)
c.486-17009A>G (n.486-17009A>G)
c.443T>C (p.Leu148Pro)
 gnomAD v4
9g.36246189A>TCA373418604CLTA,GNEc.551T>A (p.Leu184Gln)
c.281T>A (p.Leu94Gln)
c.458T>A (p.Leu153Gln)
c.486-17009A>T (n.486-17009A>T)
c.443T>A (p.Leu148Gln)
9g.36246190G>ACA464619937CLTA,GNEc.550C>T (p.Leu184=)
c.280C>T (p.Leu94=)
c.457C>T (p.Leu153=)
c.486-17008G>A (n.486-17008G>A)
c.442C>T (p.Leu148=)
 COSMIC COSMIC COSMIC
9g.36246190G>CCA373418606CLTA,GNEc.550C>G (p.Leu184Val)
c.280C>G (p.Leu94Val)
c.457C>G (p.Leu153Val)
c.486-17008G>C (n.486-17008G>C)
c.442C>G (p.Leu148Val)
9g.36246190G=CA1846375376CLTA,GNEc.550C= (p.Leu184=)
c.280C= (p.Leu94=)
c.457C= (p.Leu153=)
c.486-17008G= (n.486-17008G=)
c.442C= (p.Leu148=)
9g.36246190G>TCA373418607CLTA,GNEc.550C>A (p.Leu184Met)
c.280C>A (p.Leu94Met)
c.457C>A (p.Leu153Met)
c.486-17008G>T (n.486-17008G>T)
c.442C>A (p.Leu148Met)
9g.36246191T>ACA373418610CLTA,GNEc.549A>T (p.Lys183Asn)
c.279A>T (p.Lys93Asn)
c.456A>T (p.Lys152Asn)
c.486-17007T>A (n.486-17007T>A)
c.441A>T (p.Lys147Asn)
9g.36246191T>CCA464619939CLTA,GNEc.549A>G (p.Lys183=)
c.279A>G (p.Lys93=)
c.456A>G (p.Lys152=)
c.486-17007T>C (n.486-17007T>C)
c.441A>G (p.Lys147=)
9g.36246191T>GCA373418608CLTA,GNEc.549A>C (p.Lys183Asn)
c.279A>C (p.Lys93Asn)
c.456A>C (p.Lys152Asn)
c.486-17007T>G (n.486-17007T>G)
c.441A>C (p.Lys147Asn)
9g.36246194dupCA918447763CLTA,GNEc.549dup (p.Leu184ThrfsTer21)
c.279dup (p.Leu94ThrfsTer21)
c.456dup (p.Leu153ThrfsTer21)
c.486-17004dup (n.486-17004dup)
c.441dup (p.Leu148ThrfsTer21)
 dbSNP gnomAD v4
9g.36246192T>ACA373418613CLTA,GNEc.548A>T (p.Lys183Ile)
c.278A>T (p.Lys93Ile)
c.455A>T (p.Lys152Ile)
c.486-17006T>A (n.486-17006T>A)
c.440A>T (p.Lys147Ile)
9g.36246192T>CCA373418616CLTA,GNEc.548A>G (p.Lys183Arg)
c.278A>G (p.Lys93Arg)
c.455A>G (p.Lys152Arg)
c.486-17006T>C (n.486-17006T>C)
c.440A>G (p.Lys147Arg)
9g.36246192T>GCA373418614CLTA,GNEc.548A>C (p.Lys183Thr)
c.278A>C (p.Lys93Thr)
c.455A>C (p.Lys152Thr)
c.486-17006T>G (n.486-17006T>G)
c.440A>C (p.Lys147Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36246192T=CA1846375383CLTA,GNEc.548A= (p.Lys183=)
c.278A= (p.Lys93=)
c.455A= (p.Lys152=)
c.486-17006T= (n.486-17006T=)
c.440A= (p.Lys147=)
9g.36246193T>ACA373418619CLTA,GNEc.547A>T (p.Lys183Ter)
c.277A>T (p.Lys93Ter)
c.454A>T (p.Lys152Ter)
c.486-17005T>A (n.486-17005T>A)
c.439A>T (p.Lys147Ter)
9g.36246193T>CCA373418621CLTA,GNEc.547A>G (p.Lys183Glu)
c.277A>G (p.Lys93Glu)
c.454A>G (p.Lys152Glu)
c.486-17005T>C (n.486-17005T>C)
c.439A>G (p.Lys147Glu)
 gnomAD v4
9g.36246193T>GCA373418620CLTA,GNEc.547A>C (p.Lys183Gln)
c.277A>C (p.Lys93Gln)
c.454A>C (p.Lys152Gln)
c.486-17005T>G (n.486-17005T>G)
c.439A>C (p.Lys147Gln)
9g.36246194T>ACA464619948CLTA,GNEc.546A>T (p.Thr182=)
c.276A>T (p.Thr92=)
c.453A>T (p.Thr151=)
c.486-17004T>A (n.486-17004T>A)
c.438A>T (p.Thr146=)
9g.36246194T>CCA464619949CLTA,GNEc.546A>G (p.Thr182=)
c.276A>G (p.Thr92=)
c.453A>G (p.Thr151=)
c.486-17004T>C (n.486-17004T>C)
c.438A>G (p.Thr146=)
9g.36246194T>GCA464619950CLTA,GNEc.546A>C (p.Thr182=)
c.276A>C (p.Thr92=)
c.453A>C (p.Thr151=)
c.486-17004T>G (n.486-17004T>G)
c.438A>C (p.Thr146=)
9g.36246195G>ACA373418622CLTA,GNEc.545C>T (p.Thr182Ile)
c.275C>T (p.Thr92Ile)
c.452C>T (p.Thr151Ile)
c.486-17003G>A (n.486-17003G>A)
c.437C>T (p.Thr146Ile)
 gnomAD v4
9g.36246195G>CCA373418623CLTA,GNEc.545C>G (p.Thr182Arg)
c.275C>G (p.Thr92Arg)
c.452C>G (p.Thr151Arg)
c.486-17003G>C (n.486-17003G>C)
c.437C>G (p.Thr146Arg)
9g.36246195G>TCA373418625CLTA,GNEc.545C>A (p.Thr182Lys)
c.275C>A (p.Thr92Lys)
c.452C>A (p.Thr151Lys)
c.486-17003G>T (n.486-17003G>T)
c.437C>A (p.Thr146Lys)
9g.36246196T>ACA373418627CLTA,GNEc.544A>T (p.Thr182Ser)
c.274A>T (p.Thr92Ser)
c.451A>T (p.Thr151Ser)
c.486-17002T>A (n.486-17002T>A)
c.436A>T (p.Thr146Ser)
9g.36246196T>CCA373418629CLTA,GNEc.544A>G (p.Thr182Ala)
c.274A>G (p.Thr92Ala)
c.451A>G (p.Thr151Ala)
c.486-17002T>C (n.486-17002T>C)
c.436A>G (p.Thr146Ala)
9g.36246196T>GCA373418631CLTA,GNEc.544A>C (p.Thr182Pro)
c.274A>C (p.Thr92Pro)
c.451A>C (p.Thr151Pro)
c.486-17002T>G (n.486-17002T>G)
c.436A>C (p.Thr146Pro)
9g.36246197T>ACA464619957CLTA,GNEc.543A>T (p.Ile181=)
c.273A>T (p.Ile91=)
c.450A>T (p.Ile150=)
c.486-17001T>A (n.486-17001T>A)
c.435A>T (p.Ile145=)
 dbSNP gnomAD v4
9g.36246197T>CCA373418632CLTA,GNEc.543A>G (p.Ile181Met)
c.273A>G (p.Ile91Met)
c.450A>G (p.Ile150Met)
c.486-17001T>C (n.486-17001T>C)
c.435A>G (p.Ile145Met)
9g.36246197T>GCA464619956CLTA,GNEc.543A>C (p.Ile181=)
c.273A>C (p.Ile91=)
c.450A>C (p.Ile150=)
c.486-17001T>G (n.486-17001T>G)
c.435A>C (p.Ile145=)
9g.36246197T=CA1846375388CLTA,GNEc.543A= (p.Ile181=)
c.273A= (p.Ile91=)
c.450A= (p.Ile150=)
c.486-17001T= (n.486-17001T=)
c.435A= (p.Ile145=)
9g.36246198A=CA1846375390CLTA,GNEc.542T= (p.Ile181=)
c.272T= (p.Ile91=)
c.449T= (p.Ile150=)
c.486-17000A= (n.486-17000A=)
c.434T= (p.Ile145=)
9g.36246198A>CCA373418634CLTA,GNEc.542T>G (p.Ile181Arg)
c.272T>G (p.Ile91Arg)
c.449T>G (p.Ile150Arg)
c.486-17000A>C (n.486-17000A>C)
c.434T>G (p.Ile145Arg)
9g.36246198A>GCA373418636CLTA,GNEc.542T>C (p.Ile181Thr)
c.272T>C (p.Ile91Thr)
c.449T>C (p.Ile150Thr)
c.486-17000A>G (n.486-17000A>G)
c.434T>C (p.Ile145Thr)
9g.36246198A>TCA5056726CLTA,GNEc.542T>A (p.Ile181Lys)
c.272T>A (p.Ile91Lys)
c.449T>A (p.Ile150Lys)
c.486-17000A>T (n.486-17000A>T)
c.434T>A (p.Ile145Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246199T>ACA5056727CLTA,GNEc.541A>T (p.Ile181Leu)
c.271A>T (p.Ile91Leu)
c.448A>T (p.Ile150Leu)
c.486-16999T>A (n.486-16999T>A)
c.433A>T (p.Ile145Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246199T>CCA373418640CLTA,GNEc.541A>G (p.Ile181Val)
c.271A>G (p.Ile91Val)
c.448A>G (p.Ile150Val)
c.486-16999T>C (n.486-16999T>C)
c.433A>G (p.Ile145Val)
 ClinVar dbSNP COSMIC COSMIC COSMIC
9g.36246199T>GCA373418639CLTA,GNEc.541A>C (p.Ile181Leu)
c.271A>C (p.Ile91Leu)
c.448A>C (p.Ile150Leu)
c.486-16999T>G (n.486-16999T>G)
c.433A>C (p.Ile145Leu)
9g.36246199T=CA1846375399CLTA,GNEc.541A= (p.Ile181=)
c.271A= (p.Ile91=)
c.448A= (p.Ile150=)
c.486-16999T= (n.486-16999T=)
c.433A= (p.Ile145=)
9g.36246200G>ACA5056728CLTA,GNEc.540C>T (p.Ala180=)
c.270C>T (p.Ala90=)
c.447C>T (p.Ala149=)
c.486-16998G>A (n.486-16998G>A)
c.432C>T (p.Ala144=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246200G>CCA464619962CLTA,GNEc.540C>G (p.Ala180=)
c.270C>G (p.Ala90=)
c.447C>G (p.Ala149=)
c.486-16998G>C (n.486-16998G>C)
c.432C>G (p.Ala144=)
9g.36246200G=CA1846375401CLTA,GNEc.540C= (p.Ala180=)
c.270C= (p.Ala90=)
c.447C= (p.Ala149=)
c.486-16998G= (n.486-16998G=)
c.432C= (p.Ala144=)
9g.36246200G>TCA464619961CLTA,GNEc.540C>A (p.Ala180=)
c.270C>A (p.Ala90=)
c.447C>A (p.Ala149=)
c.486-16998G>T (n.486-16998G>T)
c.432C>A (p.Ala144=)
9g.36246201G>ACA373418644CLTA,GNEc.539C>T (p.Ala180Val)
c.269C>T (p.Ala90Val)
c.446C>T (p.Ala149Val)
c.486-16997G>A (n.486-16997G>A)
c.431C>T (p.Ala144Val)
9g.36246201G>CCA373418645CLTA,GNEc.539C>G (p.Ala180Gly)
c.269C>G (p.Ala90Gly)
c.446C>G (p.Ala149Gly)
c.486-16997G>C (n.486-16997G>C)
c.431C>G (p.Ala144Gly)
9g.36246201G=CA1846375405CLTA,GNEc.539C= (p.Ala180=)
c.269C= (p.Ala90=)
c.446C= (p.Ala149=)
c.486-16997G= (n.486-16997G=)
c.431C= (p.Ala144=)
9g.36246201G>TCA5056729CLTA,GNEc.539C>A (p.Ala180Asp)
c.269C>A (p.Ala90Asp)
c.446C>A (p.Ala149Asp)
c.486-16997G>T (n.486-16997G>T)
c.431C>A (p.Ala144Asp)
 dbSNP ExAC gnomAD v2
9g.36246202C>ACA373418649CLTA,GNEc.538G>T (p.Ala180Ser)
c.268G>T (p.Ala90Ser)
c.445G>T (p.Ala149Ser)
c.486-16996C>A (n.486-16996C>A)
c.430G>T (p.Ala144Ser)
 ClinVar dbSNP
9g.36246202C=CA1846375410CLTA,GNEc.538G= (p.Ala180=)
c.268G= (p.Ala90=)
c.445G= (p.Ala149=)
c.486-16996C= (n.486-16996C=)
c.430G= (p.Ala144=)
9g.36246202C>GCA373418651CLTA,GNEc.538G>C (p.Ala180Pro)
c.268G>C (p.Ala90Pro)
c.445G>C (p.Ala149Pro)
c.486-16996C>G (n.486-16996C>G)
c.430G>C (p.Ala144Pro)
9g.36246202C>TCA373418653CLTA,GNEc.538G>A (p.Ala180Thr)
c.268G>A (p.Ala90Thr)
c.445G>A (p.Ala149Thr)
c.486-16996C>T (n.486-16996C>T)
c.430G>A (p.Ala144Thr)
9g.36246203A>CCA373418655CLTA,GNEc.537T>G (p.His179Gln)
c.267T>G (p.His89Gln)
c.444T>G (p.His148Gln)
c.486-16995A>C (n.486-16995A>C)
c.429T>G (p.His143Gln)
9g.36246203A>GCA464619966CLTA,GNEc.537T>C (p.His179=)
c.267T>C (p.His89=)
c.444T>C (p.His148=)
c.486-16995A>G (n.486-16995A>G)
c.429T>C (p.His143=)
 ClinVar gnomAD v4
9g.36246203A>TCA373418657CLTA,GNEc.537T>A (p.His179Gln)
c.267T>A (p.His89Gln)
c.444T>A (p.His148Gln)
c.486-16995A>T (n.486-16995A>T)
c.429T>A (p.His143Gln)
9g.36246204T>ACA373418660CLTA,GNEc.536A>T (p.His179Leu)
c.266A>T (p.His89Leu)
c.443A>T (p.His148Leu)
c.486-16994T>A (n.486-16994T>A)
c.428A>T (p.His143Leu)
9g.36246204T>CCA373418662CLTA,GNEc.536A>G (p.His179Arg)
c.266A>G (p.His89Arg)
c.443A>G (p.His148Arg)
c.486-16994T>C (n.486-16994T>C)
c.428A>G (p.His143Arg)
 ClinVar
9g.36246204T>GCA373418663CLTA,GNEc.536A>C (p.His179Pro)
c.266A>C (p.His89Pro)
c.443A>C (p.His148Pro)
c.486-16994T>G (n.486-16994T>G)
c.428A>C (p.His143Pro)
9g.36246205G>ACA373418668CLTA,GNEc.535C>T (p.His179Tyr)
c.265C>T (p.His89Tyr)
c.442C>T (p.His148Tyr)
c.486-16993G>A (n.486-16993G>A)
c.427C>T (p.His143Tyr)
 gnomAD v4
9g.36246205G>CCA373418670CLTA,GNEc.535C>G (p.His179Asp)
c.265C>G (p.His89Asp)
c.442C>G (p.His148Asp)
c.486-16993G>C (n.486-16993G>C)
c.427C>G (p.His143Asp)
9g.36246205G>TCA373418666CLTA,GNEc.535C>A (p.His179Asn)
c.265C>A (p.His89Asn)
c.442C>A (p.His148Asn)
c.486-16993G>T (n.486-16993G>T)
c.427C>A (p.His143Asn)
9g.36246206T>ACA373418672CLTA,GNEc.534A>T (p.Arg178Ser)
c.264A>T (p.Arg88Ser)
c.441A>T (p.Arg147Ser)
c.486-16992T>A (n.486-16992T>A)
c.426A>T (p.Arg142Ser)
9g.36246206T>CCA464619969CLTA,GNEc.534A>G (p.Arg178=)
c.264A>G (p.Arg88=)
c.441A>G (p.Arg147=)
c.486-16992T>C (n.486-16992T>C)
c.426A>G (p.Arg142=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36246206T>GCA373418673CLTA,GNEc.534A>C (p.Arg178Ser)
c.264A>C (p.Arg88Ser)
c.441A>C (p.Arg147Ser)
c.486-16992T>G (n.486-16992T>G)
c.426A>C (p.Arg142Ser)
9g.36246206T=CA1846375415CLTA,GNEc.534A= (p.Arg178=)
c.264A= (p.Arg88=)
c.441A= (p.Arg147=)
c.486-16992T= (n.486-16992T=)
c.426A= (p.Arg142=)
9g.36246207C>ACA373418676CLTA,GNEc.533G>T (p.Arg178Ile)
c.263G>T (p.Arg88Ile)
c.440G>T (p.Arg147Ile)
c.486-16991C>A (n.486-16991C>A)
c.425G>T (p.Arg142Ile)
9g.36246207C>GCA373418677CLTA,GNEc.533G>C (p.Arg178Thr)
c.263G>C (p.Arg88Thr)
c.440G>C (p.Arg147Thr)
c.486-16991C>G (n.486-16991C>G)
c.425G>C (p.Arg142Thr)
9g.36246207C>TCA373418679CLTA,GNEc.533G>A (p.Arg178Lys)
c.263G>A (p.Arg88Lys)
c.440G>A (p.Arg147Lys)
c.486-16991C>T (n.486-16991C>T)
c.425G>A (p.Arg142Lys)
9g.36246208T>ACA373418681CLTA,GNEc.532A>T (p.Arg178Ter)
c.262A>T (p.Arg88Ter)
c.439A>T (p.Arg147Ter)
c.486-16990T>A (n.486-16990T>A)
c.424A>T (p.Arg142Ter)
9g.36246208T>CCA373418683CLTA,GNEc.532A>G (p.Arg178Gly)
c.262A>G (p.Arg88Gly)
c.439A>G (p.Arg147Gly)
c.486-16990T>C (n.486-16990T>C)
c.424A>G (p.Arg142Gly)
 gnomAD v4
9g.36246208T>GCA464619970CLTA,GNEc.532A>C (p.Arg178=)
c.262A>C (p.Arg88=)
c.439A>C (p.Arg147=)
c.486-16990T>G (n.486-16990T>G)
c.424A>C (p.Arg142=)
9g.36246208_36246212delinsTGATACA1846375418CLTA,GNEc.528_532delinsTATCA (p.Ser176=)
c.258_262delinsTATCA (p.Ser86=)
c.435_439delinsTATCA (p.Ser145=)
c.486-16990_486-16986delinsTGATA (n.486-16990_486-16986delinsTGATA)
c.420_424delinsTATCA (p.Ser140=)
9g.36246209G>ACA464619974CLTA,GNEc.531C>T (p.Ile177=)
c.261C>T (p.Ile87=)
c.438C>T (p.Ile146=)
c.486-16989G>A (n.486-16989G>A)
c.423C>T (p.Ile141=)
9g.36246209G>CCA373418685CLTA,GNEc.531C>G (p.Ile177Met)
c.261C>G (p.Ile87Met)
c.438C>G (p.Ile146Met)
c.486-16989G>C (n.486-16989G>C)
c.423C>G (p.Ile141Met)
 COSMIC COSMIC COSMIC
9g.36246209G>TCA464619976CLTA,GNEc.531C>A (p.Ile177=)
c.261C>A (p.Ile87=)
c.438C>A (p.Ile146=)
c.486-16989G>T (n.486-16989G>T)
c.423C>A (p.Ile141=)
9g.36246211_36246214delCA16041322CLTA,GNEc.528_531del (p.Ile177AspfsTer4)
c.258_261del (p.Ile87AspfsTer4)
c.435_438del (p.Ile146AspfsTer4)
c.486-16987_486-16984del (n.486-16987_486-16984del)
c.420_423del (p.Ile141AspfsTer4)
 ClinVar dbSNP
9g.36246210A>CCA373418689CLTA,GNEc.530T>G (p.Ile177Ser)
c.260T>G (p.Ile87Ser)
c.437T>G (p.Ile146Ser)
c.486-16988A>C (n.486-16988A>C)
c.422T>G (p.Ile141Ser)
9g.36246210A>GCA373418690CLTA,GNEc.530T>C (p.Ile177Thr)
c.260T>C (p.Ile87Thr)
c.437T>C (p.Ile146Thr)
c.486-16988A>G (n.486-16988A>G)
c.422T>C (p.Ile141Thr)
9g.36246210A>TCA373418692CLTA,GNEc.530T>A (p.Ile177Asn)
c.260T>A (p.Ile87Asn)
c.437T>A (p.Ile146Asn)
c.486-16988A>T (n.486-16988A>T)
c.422T>A (p.Ile141Asn)
9g.36246210_36246211delinsATCA1846375426CLTA,GNEc.529_530delinsAT (p.Ile177=)
c.259_260delinsAT (p.Ile87=)
c.436_437delinsAT (p.Ile146=)
c.486-16988_486-16987delinsAT (n.486-16988_486-16987delinsAT)
c.421_422delinsAT (p.Ile141=)
9g.36246211delCA1123252950CLTA,GNEc.529del (p.Ile177SerfsTer5)
c.259del (p.Ile87SerfsTer5)
c.436del (p.Ile146SerfsTer5)
c.486-16987del (n.486-16987del)
c.421del (p.Ile141SerfsTer5)
 dbSNP gnomAD v3 gnomAD v4
9g.36246211T>ACA373418696CLTA,GNEc.529A>T (p.Ile177Phe)
c.259A>T (p.Ile87Phe)
c.436A>T (p.Ile146Phe)
c.486-16987T>A (n.486-16987T>A)
c.421A>T (p.Ile141Phe)
9g.36246211T>CCA373418698CLTA,GNEc.529A>G (p.Ile177Val)
c.259A>G (p.Ile87Val)
c.436A>G (p.Ile146Val)
c.486-16987T>C (n.486-16987T>C)
c.421A>G (p.Ile141Val)
 ClinVar dbSNP
9g.36246211T>GCA373418695CLTA,GNEc.529A>C (p.Ile177Leu)
c.259A>C (p.Ile87Leu)
c.436A>C (p.Ile146Leu)
c.486-16987T>G (n.486-16987T>G)
c.421A>C (p.Ile141Leu)
9g.36246212A=CA1846375430CLTA,GNEc.528T= (p.Ser176=)
c.258T= (p.Ser86=)
c.435T= (p.Ser145=)
c.486-16986A= (n.486-16986A=)
c.420T= (p.Ser140=)
9g.36246212A>CCA464619981CLTA,GNEc.528T>G (p.Ser176=)
c.258T>G (p.Ser86=)
c.435T>G (p.Ser145=)
c.486-16986A>C (n.486-16986A>C)
c.420T>G (p.Ser140=)
9g.36246212A>GCA5056730CLTA,GNEc.528T>C (p.Ser176=)
c.258T>C (p.Ser86=)
c.435T>C (p.Ser145=)
c.486-16986A>G (n.486-16986A>G)
c.420T>C (p.Ser140=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246212A>TCA464619983CLTA,GNEc.528T>A (p.Ser176=)
c.258T>A (p.Ser86=)
c.435T>A (p.Ser145=)
c.486-16986A>T (n.486-16986A>T)
c.420T>A (p.Ser140=)
9g.36246212dupCA2689947824CLTA,GNEc.528dup (p.Ile177TyrfsTer28)
c.258dup (p.Ile87TyrfsTer28)
c.435dup (p.Ile146TyrfsTer28)
c.486-16986dup (n.486-16986dup)
c.420dup (p.Ile141TyrfsTer28)
 gnomAD v4
9g.36246213G>ACA373418702CLTA,GNEc.527C>T (p.Ser176Phe)
c.257C>T (p.Ser86Phe)
c.434C>T (p.Ser145Phe)
c.486-16985G>A (n.486-16985G>A)
c.419C>T (p.Ser140Phe)
9g.36246213G>CCA373418704CLTA,GNEc.527C>G (p.Ser176Cys)
c.257C>G (p.Ser86Cys)
c.434C>G (p.Ser145Cys)
c.486-16985G>C (n.486-16985G>C)
c.419C>G (p.Ser140Cys)
9g.36246213G>TCA373418706CLTA,GNEc.527C>A (p.Ser176Tyr)
c.257C>A (p.Ser86Tyr)
c.434C>A (p.Ser145Tyr)
c.486-16985G>T (n.486-16985G>T)
c.419C>A (p.Ser140Tyr)
9g.36246214A>CCA373418708CLTA,GNEc.526T>G (p.Ser176Ala)
c.256T>G (p.Ser86Ala)
c.433T>G (p.Ser145Ala)
c.486-16984A>C (n.486-16984A>C)
c.418T>G (p.Ser140Ala)
 gnomAD v4
9g.36246214A>GCA373418711CLTA,GNEc.526T>C (p.Ser176Pro)
c.256T>C (p.Ser86Pro)
c.433T>C (p.Ser145Pro)
c.486-16984A>G (n.486-16984A>G)
c.418T>C (p.Ser140Pro)
9g.36246214A>TCA373418712CLTA,GNEc.526T>A (p.Ser176Thr)
c.256T>A (p.Ser86Thr)
c.433T>A (p.Ser145Thr)
c.486-16984A>T (n.486-16984A>T)
c.418T>A (p.Ser140Thr)
9g.36246215G>ACA464619988CLTA,GNEc.525C>T (p.Asp175=)
c.255C>T (p.Asp85=)
c.432C>T (p.Asp144=)
c.486-16983G>A (n.486-16983G>A)
c.417C>T (p.Asp139=)
 ClinVar dbSNP
9g.36246215G>CCA373418714CLTA,GNEc.525C>G (p.Asp175Glu)
c.255C>G (p.Asp85Glu)
c.432C>G (p.Asp144Glu)
c.486-16983G>C (n.486-16983G>C)
c.417C>G (p.Asp139Glu)
9g.36246215G>TCA373418716CLTA,GNEc.525C>A (p.Asp175Glu)
c.255C>A (p.Asp85Glu)
c.432C>A (p.Asp144Glu)
c.486-16983G>T (n.486-16983G>T)
c.417C>A (p.Asp139Glu)
9g.36246216T>ACA373418718CLTA,GNEc.524A>T (p.Asp175Val)
c.254A>T (p.Asp85Val)
c.431A>T (p.Asp144Val)
c.486-16982T>A (n.486-16982T>A)
c.416A>T (p.Asp139Val)
9g.36246216T>CCA373418720CLTA,GNEc.524A>G (p.Asp175Gly)
c.254A>G (p.Asp85Gly)
c.431A>G (p.Asp144Gly)
c.486-16982T>C (n.486-16982T>C)
c.416A>G (p.Asp139Gly)
9g.36246216T>GCA373418722CLTA,GNEc.524A>C (p.Asp175Ala)
c.254A>C (p.Asp85Ala)
c.431A>C (p.Asp144Ala)
c.486-16982T>G (n.486-16982T>G)
c.416A>C (p.Asp139Ala)
9g.36246217C>ACA373418724CLTA,GNEc.523G>T (p.Asp175Tyr)
c.253G>T (p.Asp85Tyr)
c.430G>T (p.Asp144Tyr)
c.486-16981C>A (n.486-16981C>A)
c.415G>T (p.Asp139Tyr)
 gnomAD v4
9g.36246217C>GCA373418726CLTA,GNEc.523G>C (p.Asp175His)
c.253G>C (p.Asp85His)
c.430G>C (p.Asp144His)
c.486-16981C>G (n.486-16981C>G)
c.415G>C (p.Asp139His)
 gnomAD v4
9g.36246217C>TCA373418727CLTA,GNEc.523G>A (p.Asp175Asn)
c.253G>A (p.Asp85Asn)
c.430G>A (p.Asp144Asn)
c.486-16981C>T (n.486-16981C>T)
c.415G>A (p.Asp139Asn)
9g.36246218A=CA1846375436CLTA,GNEc.522T= (p.Asp174=)
c.252T= (p.Asp84=)
c.429T= (p.Asp143=)
c.486-16980A= (n.486-16980A=)
c.414T= (p.Asp138=)
9g.36246218A>CCA373418730CLTA,GNEc.522T>G (p.Asp174Glu)
c.252T>G (p.Asp84Glu)
c.429T>G (p.Asp143Glu)
c.486-16980A>C (n.486-16980A>C)
c.414T>G (p.Asp138Glu)
9g.36246218A>GCA464619996CLTA,GNEc.522T>C (p.Asp174=)
c.252T>C (p.Asp84=)
c.429T>C (p.Asp143=)
c.486-16980A>G (n.486-16980A>G)
c.414T>C (p.Asp138=)
 ClinVar dbSNP
9g.36246218A>TCA373418732CLTA,GNEc.522T>A (p.Asp174Glu)
c.252T>A (p.Asp84Glu)
c.429T>A (p.Asp143Glu)
c.486-16980A>T (n.486-16980A>T)
c.414T>A (p.Asp138Glu)
 gnomAD v4
9g.36246219T>ACA373418734CLTA,GNEc.521A>T (p.Asp174Val)
c.251A>T (p.Asp84Val)
c.428A>T (p.Asp143Val)
c.486-16979T>A (n.486-16979T>A)
c.413A>T (p.Asp138Val)
9g.36246219T>CCA373418738CLTA,GNEc.521A>G (p.Asp174Gly)
c.251A>G (p.Asp84Gly)
c.428A>G (p.Asp143Gly)
c.486-16979T>C (n.486-16979T>C)
c.413A>G (p.Asp138Gly)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC
9g.36246219T>GCA373418736CLTA,GNEc.521A>C (p.Asp174Ala)
c.251A>C (p.Asp84Ala)
c.428A>C (p.Asp143Ala)
c.486-16979T>G (n.486-16979T>G)
c.413A>C (p.Asp138Ala)
9g.36246220C>ACA373418740CLTA,GNEc.520G>T (p.Asp174Tyr)
c.250G>T (p.Asp84Tyr)
c.427G>T (p.Asp143Tyr)
c.486-16978C>A (n.486-16978C>A)
c.412G>T (p.Asp138Tyr)
9g.36246220C>GCA373418742CLTA,GNEc.520G>C (p.Asp174His)
c.250G>C (p.Asp84His)
c.427G>C (p.Asp143His)
c.486-16978C>G (n.486-16978C>G)
c.412G>C (p.Asp138His)
9g.36246220C>TCA373418744CLTA,GNEc.520G>A (p.Asp174Asn)
c.250G>A (p.Asp84Asn)
c.427G>A (p.Asp143Asn)
c.486-16978C>T (n.486-16978C>T)
c.412G>A (p.Asp138Asn)
9g.36246221A>CCA373418746CLTA,GNEc.519T>G (p.Ile173Met)
c.249T>G (p.Ile83Met)
c.426T>G (p.Ile142Met)
c.486-16977A>C (n.486-16977A>C)
c.411T>G (p.Ile137Met)
9g.36246221A>GCA464620002CLTA,GNEc.519T>C (p.Ile173=)
c.249T>C (p.Ile83=)
c.426T>C (p.Ile142=)
c.486-16977A>G (n.486-16977A>G)
c.411T>C (p.Ile137=)
9g.36246221A>TCA464620000CLTA,GNEc.519T>A (p.Ile173=)
c.249T>A (p.Ile83=)
c.426T>A (p.Ile142=)
c.486-16977A>T (n.486-16977A>T)
c.411T>A (p.Ile137=)
9g.36246222A=CA1846375443CLTA,GNEc.518T= (p.Ile173=)
c.248T= (p.Ile83=)
c.425T= (p.Ile142=)
c.486-16976A= (n.486-16976A=)
c.410T= (p.Ile137=)
9g.36246222A>CCA373418749CLTA,GNEc.518T>G (p.Ile173Ser)
c.248T>G (p.Ile83Ser)
c.425T>G (p.Ile142Ser)
c.486-16976A>C (n.486-16976A>C)
c.410T>G (p.Ile137Ser)
9g.36246222A>GCA373418750CLTA,GNEc.518T>C (p.Ile173Thr)
c.248T>C (p.Ile83Thr)
c.425T>C (p.Ile142Thr)
c.486-16976A>G (n.486-16976A>G)
c.410T>C (p.Ile137Thr)
 ClinVar dbSNP gnomAD v4
9g.36246222A>TCA373418752CLTA,GNEc.518T>A (p.Ile173Asn)
c.248T>A (p.Ile83Asn)
c.425T>A (p.Ile142Asn)
c.486-16976A>T (n.486-16976A>T)
c.410T>A (p.Ile137Asn)
9g.36246223T>ACA373418755CLTA,GNEc.517A>T (p.Ile173Phe)
c.247A>T (p.Ile83Phe)
c.424A>T (p.Ile142Phe)
c.486-16975T>A (n.486-16975T>A)
c.409A>T (p.Ile137Phe)
9g.36246223T>CCA373418756CLTA,GNEc.517A>G (p.Ile173Val)
c.247A>G (p.Ile83Val)
c.424A>G (p.Ile142Val)
c.486-16975T>C (n.486-16975T>C)
c.409A>G (p.Ile137Val)
9g.36246223T>GCA373418758CLTA,GNEc.517A>C (p.Ile173Leu)
c.247A>C (p.Ile83Leu)
c.424A>C (p.Ile142Leu)
c.486-16975T>G (n.486-16975T>G)
c.409A>C (p.Ile137Leu)
9g.36246224G>ACA464620007CLTA,GNEc.516C>T (p.Thr172=)
c.246C>T (p.Thr82=)
c.423C>T (p.Thr141=)
c.486-16974G>A (n.486-16974G>A)
c.408C>T (p.Thr136=)
 dbSNP gnomAD v2 gnomAD v4
9g.36246224G>CCA464620009CLTA,GNEc.516C>G (p.Thr172=)
c.246C>G (p.Thr82=)
c.423C>G (p.Thr141=)
c.486-16974G>C (n.486-16974G>C)
c.408C>G (p.Thr136=)
9g.36246224G=CA1846375446CLTA,GNEc.516C= (p.Thr172=)
c.246C= (p.Thr82=)
c.423C= (p.Thr141=)
c.486-16974G= (n.486-16974G=)
c.408C= (p.Thr136=)
9g.36246224G>TCA464620008CLTA,GNEc.516C>A (p.Thr172=)
c.246C>A (p.Thr82=)
c.423C>A (p.Thr141=)
c.486-16974G>T (n.486-16974G>T)
c.408C>A (p.Thr136=)
9g.36246225G>ACA373418759CLTA,GNEc.515C>T (p.Thr172Ile)
c.245C>T (p.Thr82Ile)
c.422C>T (p.Thr141Ile)
c.486-16973G>A (n.486-16973G>A)
c.407C>T (p.Thr136Ile)
9g.36246225G>CCA373418761CLTA,GNEc.515C>G (p.Thr172Ser)
c.245C>G (p.Thr82Ser)
c.422C>G (p.Thr141Ser)
c.486-16973G>C (n.486-16973G>C)
c.407C>G (p.Thr136Ser)
9g.36246225G>TCA373418763CLTA,GNEc.515C>A (p.Thr172Asn)
c.245C>A (p.Thr82Asn)
c.422C>A (p.Thr141Asn)
c.486-16973G>T (n.486-16973G>T)
c.407C>A (p.Thr136Asn)
9g.36246226T>ACA373418776CLTA,GNEc.514A>T (p.Thr172Ser)
c.244A>T (p.Thr82Ser)
c.421A>T (p.Thr141Ser)
c.486-16972T>A (n.486-16972T>A)
c.406A>T (p.Thr136Ser)
9g.36246226T>CCA373418766CLTA,GNEc.514A>G (p.Thr172Ala)
c.244A>G (p.Thr82Ala)
c.421A>G (p.Thr141Ala)
c.486-16972T>C (n.486-16972T>C)
c.406A>G (p.Thr136Ala)
9g.36246226T>GCA373418768CLTA,GNEc.514A>C (p.Thr172Pro)
c.244A>C (p.Thr82Pro)
c.421A>C (p.Thr141Pro)
c.486-16972T>G (n.486-16972T>G)
c.406A>C (p.Thr136Pro)
9g.36246227C>ACA464620012CLTA,GNEc.513G>T (p.Gly171=)
c.243G>T (p.Gly81=)
c.420G>T (p.Gly140=)
c.486-16971C>A (n.486-16971C>A)
c.405G>T (p.Gly135=)
9g.36246227C>GCA464620013CLTA,GNEc.513G>C (p.Gly171=)
c.243G>C (p.Gly81=)
c.420G>C (p.Gly140=)
c.486-16971C>G (n.486-16971C>G)
c.405G>C (p.Gly135=)
9g.36246227C>TCA464620014CLTA,GNEc.513G>A (p.Gly171=)
c.243G>A (p.Gly81=)
c.420G>A (p.Gly140=)
c.486-16971C>T (n.486-16971C>T)
c.405G>A (p.Gly135=)
 ClinVar dbSNP
9g.36246228C>ACA373418780CLTA,GNEc.512G>T (p.Gly171Val)
c.242G>T (p.Gly81Val)
c.419G>T (p.Gly140Val)
c.486-16970C>A (n.486-16970C>A)
c.404G>T (p.Gly135Val)
9g.36246228C>GCA373418783CLTA,GNEc.512G>C (p.Gly171Ala)
c.242G>C (p.Gly81Ala)
c.419G>C (p.Gly140Ala)
c.486-16970C>G (n.486-16970C>G)
c.404G>C (p.Gly135Ala)
9g.36246228C>TCA373418786CLTA,GNEc.512G>A (p.Gly171Glu)
c.242G>A (p.Gly81Glu)
c.419G>A (p.Gly140Glu)
c.486-16970C>T (n.486-16970C>T)
c.404G>A (p.Gly135Glu)
 gnomAD v4
9g.36246229C>ACA373418788CLTA,GNEc.511G>T (p.Gly171Trp)
c.241G>T (p.Gly81Trp)
c.418G>T (p.Gly140Trp)
c.486-16969C>A (n.486-16969C>A)
c.403G>T (p.Gly135Trp)
9g.36246229C>GCA373418791CLTA,GNEc.511G>C (p.Gly171Arg)
c.241G>C (p.Gly81Arg)
c.418G>C (p.Gly140Arg)
c.486-16969C>G (n.486-16969C>G)
c.403G>C (p.Gly135Arg)
9g.36246229C>TCA373418793CLTA,GNEc.511G>A (p.Gly171Arg)
c.241G>A (p.Gly81Arg)
c.418G>A (p.Gly140Arg)
c.486-16969C>T (n.486-16969C>T)
c.403G>A (p.Gly135Arg)
9g.36246230A=CA1846375452CLTA,GNEc.510T= (p.Ser170=)
c.240T= (p.Ser80=)
c.417T= (p.Ser139=)
c.486-16968A= (n.486-16968A=)
c.402T= (p.Ser134=)
9g.36246230A>CCA373418797CLTA,GNEc.510T>G (p.Ser170Arg)
c.240T>G (p.Ser80Arg)
c.417T>G (p.Ser139Arg)
c.486-16968A>C (n.486-16968A>C)
c.402T>G (p.Ser134Arg)
9g.36246230A>GCA464620017CLTA,GNEc.510T>C (p.Ser170=)
c.240T>C (p.Ser80=)
c.417T>C (p.Ser139=)
c.486-16968A>G (n.486-16968A>G)
c.402T>C (p.Ser134=)
 ClinVar dbSNP gnomAD v4
9g.36246230A>TCA373418800CLTA,GNEc.510T>A (p.Ser170Arg)
c.240T>A (p.Ser80Arg)
c.417T>A (p.Ser139Arg)
c.486-16968A>T (n.486-16968A>T)
c.402T>A (p.Ser134Arg)
9g.36246231C>ACA373418804CLTA,GNEc.509G>T (p.Ser170Ile)
c.239G>T (p.Ser80Ile)
c.416G>T (p.Ser139Ile)
c.486-16967C>A (n.486-16967C>A)
c.401G>T (p.Ser134Ile)
9g.36246231C>GCA373418807CLTA,GNEc.509G>C (p.Ser170Thr)
c.239G>C (p.Ser80Thr)
c.416G>C (p.Ser139Thr)
c.486-16967C>G (n.486-16967C>G)
c.401G>C (p.Ser134Thr)
9g.36246231C>TCA373418811CLTA,GNEc.509G>A (p.Ser170Asn)
c.239G>A (p.Ser80Asn)
c.416G>A (p.Ser139Asn)
c.486-16967C>T (n.486-16967C>T)
c.401G>A (p.Ser134Asn)
 gnomAD v4
9g.36246232T>ACA373418821CLTA,GNEc.508A>T (p.Ser170Cys)
c.238A>T (p.Ser80Cys)
c.415A>T (p.Ser139Cys)
c.486-16966T>A (n.486-16966T>A)
c.400A>T (p.Ser134Cys)
9g.36246232T>CCA373418817CLTA,GNEc.508A>G (p.Ser170Gly)
c.238A>G (p.Ser80Gly)
c.415A>G (p.Ser139Gly)
c.486-16966T>C (n.486-16966T>C)
c.400A>G (p.Ser134Gly)
9g.36246232T>GCA373418815CLTA,GNEc.508A>C (p.Ser170Arg)
c.238A>C (p.Ser80Arg)
c.415A>C (p.Ser139Arg)
c.486-16966T>G (n.486-16966T>G)
c.400A>C (p.Ser134Arg)
9g.36246233G>ACA464620024CLTA,GNEc.507C>T (p.Val169=)
c.237C>T (p.Val79=)
c.414C>T (p.Val138=)
c.486-16965G>A (n.486-16965G>A)
c.399C>T (p.Val133=)
9g.36246233G>CCA464620026CLTA,GNEc.507C>G (p.Val169=)
c.237C>G (p.Val79=)
c.414C>G (p.Val138=)
c.486-16965G>C (n.486-16965G>C)
c.399C>G (p.Val133=)
9g.36246233G>TCA464620027CLTA,GNEc.507C>A (p.Val169=)
c.237C>A (p.Val79=)
c.414C>A (p.Val138=)
c.486-16965G>T (n.486-16965G>T)
c.399C>A (p.Val133=)
9g.36246234A>CCA373418824CLTA,GNEc.506T>G (p.Val169Gly)
c.236T>G (p.Val79Gly)
c.413T>G (p.Val138Gly)
c.486-16964A>C (n.486-16964A>C)
c.398T>G (p.Val133Gly)
9g.36246234A>GCA373418826CLTA,GNEc.506T>C (p.Val169Ala)
c.236T>C (p.Val79Ala)
c.413T>C (p.Val138Ala)
c.486-16964A>G (n.486-16964A>G)
c.398T>C (p.Val133Ala)
9g.36246234A>TCA373418829CLTA,GNEc.506T>A (p.Val169Asp)
c.236T>A (p.Val79Asp)
c.413T>A (p.Val138Asp)
c.486-16964A>T (n.486-16964A>T)
c.398T>A (p.Val133Asp)
9g.36246235C>ACA373418835CLTA,GNEc.505G>T (p.Val169Phe)
c.235G>T (p.Val79Phe)
c.412G>T (p.Val138Phe)
c.486-16963C>A (n.486-16963C>A)
c.397G>T (p.Val133Phe)
9g.36246235C>GCA373418836CLTA,GNEc.505G>C (p.Val169Leu)
c.235G>C (p.Val79Leu)
c.412G>C (p.Val138Leu)
c.486-16963C>G (n.486-16963C>G)
c.397G>C (p.Val133Leu)
9g.36246235C>TCA373418840CLTA,GNEc.505G>A (p.Val169Ile)
c.235G>A (p.Val79Ile)
c.412G>A (p.Val138Ile)
c.486-16963C>T (n.486-16963C>T)
c.397G>A (p.Val133Ile)
9g.36246236T>ACA373418855CLTA,GNEc.504A>T (p.Glu168Asp)
c.234A>T (p.Glu78Asp)
c.411A>T (p.Glu137Asp)
c.486-16962T>A (n.486-16962T>A)
c.396A>T (p.Glu132Asp)
9g.36246236T>CCA464620032CLTA,GNEc.504A>G (p.Glu168=)
c.234A>G (p.Glu78=)
c.411A>G (p.Glu137=)
c.486-16962T>C (n.486-16962T>C)
c.396A>G (p.Glu132=)
 dbSNP
9g.36246236T>GCA373418845CLTA,GNEc.504A>C (p.Glu168Asp)
c.234A>C (p.Glu78Asp)
c.411A>C (p.Glu137Asp)
c.486-16962T>G (n.486-16962T>G)
c.396A>C (p.Glu132Asp)
9g.36246236T=CA1846320787CLTA,GNEc.504A= (p.Glu168=)
c.234A= (p.Glu78=)
c.411A= (p.Glu137=)
c.486-16962T= (n.486-16962T=)
c.396A= (p.Glu132=)
9g.36246237T>ACA373418857CLTA,GNEc.503A>T (p.Glu168Val)
c.233A>T (p.Glu78Val)
c.410A>T (p.Glu137Val)
c.486-16961T>A (n.486-16961T>A)
c.395A>T (p.Glu132Val)
9g.36246237T>CCA373418860CLTA,GNEc.503A>G (p.Glu168Gly)
c.233A>G (p.Glu78Gly)
c.410A>G (p.Glu137Gly)
c.486-16961T>C (n.486-16961T>C)
c.395A>G (p.Glu132Gly)
9g.36246237T>GCA373418862CLTA,GNEc.503A>C (p.Glu168Ala)
c.233A>C (p.Glu78Ala)
c.410A>C (p.Glu137Ala)
c.486-16961T>G (n.486-16961T>G)
c.395A>C (p.Glu132Ala)
9g.36246238C>ACA373418865CLTA,GNEc.502G>T (p.Glu168Ter)
c.232G>T (p.Glu78Ter)
c.409G>T (p.Glu137Ter)
c.486-16960C>A (n.486-16960C>A)
c.394G>T (p.Glu132Ter)
9g.36246238C>GCA373418868CLTA,GNEc.502G>C (p.Glu168Gln)
c.232G>C (p.Glu78Gln)
c.409G>C (p.Glu137Gln)
c.486-16960C>G (n.486-16960C>G)
c.394G>C (p.Glu132Gln)
9g.36246238C>TCA373418873CLTA,GNEc.502G>A (p.Glu168Lys)
c.232G>A (p.Glu78Lys)
c.409G>A (p.Glu137Lys)
c.486-16960C>T (n.486-16960C>T)
c.394G>A (p.Glu132Lys)
9g.36246241delCA2579338612CLTA,GNEc.502del (p.Glu168LysfsTer14)
c.232del (p.Glu78LysfsTer14)
c.409del (p.Glu137LysfsTer14)
c.486-16957del (n.486-16957del)
c.394del (p.Glu132LysfsTer14)
9g.36246239C>ACA464620040CLTA,GNEc.501G>T (p.Gly167=)
c.231G>T (p.Gly77=)
c.408G>T (p.Gly136=)
c.486-16959C>A (n.486-16959C>A)
c.393G>T (p.Gly131=)
9g.36246239C>GCA464620046CLTA,GNEc.501G>C (p.Gly167=)
c.231G>C (p.Gly77=)
c.408G>C (p.Gly136=)
c.486-16959C>G (n.486-16959C>G)
c.393G>C (p.Gly131=)
9g.36246239C>TCA464620045CLTA,GNEc.501G>A (p.Gly167=)
c.231G>A (p.Gly77=)
c.408G>A (p.Gly136=)
c.486-16959C>T (n.486-16959C>T)
c.393G>A (p.Gly131=)
9g.36246240C>ACA373418878CLTA,GNEc.500G>T (p.Gly167Val)
c.230G>T (p.Gly77Val)
c.407G>T (p.Gly136Val)
c.486-16958C>A (n.486-16958C>A)
c.392G>T (p.Gly131Val)
9g.36246240C=CA1846320795CLTA,GNEc.500G= (p.Gly167=)
c.230G= (p.Gly77=)
c.407G= (p.Gly136=)
c.486-16958C= (n.486-16958C=)
c.392G= (p.Gly131=)
9g.36246240C>GCA373418884CLTA,GNEc.500G>C (p.Gly167Ala)
c.230G>C (p.Gly77Ala)
c.407G>C (p.Gly136Ala)
c.486-16958C>G (n.486-16958C>G)
c.392G>C (p.Gly131Ala)
9g.36246240C>TCA373418882CLTA,GNEc.500G>A (p.Gly167Glu)
c.230G>A (p.Gly77Glu)
c.407G>A (p.Gly136Glu)
c.486-16958C>T (n.486-16958C>T)
c.392G>A (p.Gly131Glu)
 dbSNP gnomAD v2 gnomAD v4
9g.36246241C>ACA373418899CLTA,GNEc.499G>T (p.Gly167Trp)
c.229G>T (p.Gly77Trp)
c.406G>T (p.Gly136Trp)
c.486-16957C>A (n.486-16957C>A)
c.391G>T (p.Gly131Trp)
9g.36246241C>GCA373418902CLTA,GNEc.499G>C (p.Gly167Arg)
c.229G>C (p.Gly77Arg)
c.406G>C (p.Gly136Arg)
c.486-16957C>G (n.486-16957C>G)
c.391G>C (p.Gly131Arg)
9g.36246241C>TCA373418906CLTA,GNEc.499G>A (p.Gly167Arg)
c.229G>A (p.Gly77Arg)
c.406G>A (p.Gly136Arg)
c.486-16957C>T (n.486-16957C>T)
c.391G>A (p.Gly131Arg)
9g.36246242A=CA1846320802CLTA,GNEc.498T= (p.Gly166=)
c.228T= (p.Gly76=)
c.405T= (p.Gly135=)
c.486-16956A= (n.486-16956A=)
c.390T= (p.Gly130=)
9g.36246242A>CCA464620052CLTA,GNEc.498T>G (p.Gly166=)
c.228T>G (p.Gly76=)
c.405T>G (p.Gly135=)
c.486-16956A>C (n.486-16956A>C)
c.390T>G (p.Gly130=)
 dbSNP
9g.36246242A>GCA464620053CLTA,GNEc.498T>C (p.Gly166=)
c.228T>C (p.Gly76=)
c.405T>C (p.Gly135=)
c.486-16956A>G (n.486-16956A>G)
c.390T>C (p.Gly130=)
9g.36246242A>TCA464620054CLTA,GNEc.498T>A (p.Gly166=)
c.228T>A (p.Gly76=)
c.405T>A (p.Gly135=)
c.486-16956A>T (n.486-16956A>T)
c.390T>A (p.Gly130=)
9g.36246243C>ACA373418912CLTA,GNEc.497G>T (p.Gly166Val)
c.227G>T (p.Gly76Val)
c.404G>T (p.Gly135Val)
c.486-16955C>A (n.486-16955C>A)
c.389G>T (p.Gly130Val)
 ClinVar dbSNP
9g.36246243C=CA1846320807CLTA,GNEc.497G= (p.Gly166=)
c.227G= (p.Gly76=)
c.404G= (p.Gly135=)
c.486-16955C= (n.486-16955C=)
c.389G= (p.Gly130=)
9g.36246243C>GCA373418914CLTA,GNEc.497G>C (p.Gly166Ala)
c.227G>C (p.Gly76Ala)
c.404G>C (p.Gly135Ala)
c.486-16955C>G (n.486-16955C>G)
c.389G>C (p.Gly130Ala)
9g.36246243C>TCA373418916CLTA,GNEc.497G>A (p.Gly166Asp)
c.227G>A (p.Gly76Asp)
c.404G>A (p.Gly135Asp)
c.486-16955C>T (n.486-16955C>T)
c.389G>A (p.Gly130Asp)
 gnomAD v4
9g.36246244C>ACA373418921CLTA,GNEc.496G>T (p.Gly166Cys)
c.226G>T (p.Gly76Cys)
c.403G>T (p.Gly135Cys)
c.486-16954C>A (n.486-16954C>A)
c.388G>T (p.Gly130Cys)
9g.36246244C>GCA373418923CLTA,GNEc.496G>C (p.Gly166Arg)
c.226G>C (p.Gly76Arg)
c.403G>C (p.Gly135Arg)
c.486-16954C>G (n.486-16954C>G)
c.388G>C (p.Gly130Arg)
9g.36246244C>TCA373418926CLTA,GNEc.496G>A (p.Gly166Ser)
c.226G>A (p.Gly76Ser)
c.403G>A (p.Gly135Ser)
c.486-16954C>T (n.486-16954C>T)
c.388G>A (p.Gly130Ser)
9g.36246245T>ACA373418936CLTA,GNEc.495A>T (p.Glu165Asp)
c.225A>T (p.Glu75Asp)
c.402A>T (p.Glu134Asp)
c.486-16953T>A (n.486-16953T>A)
c.387A>T (p.Glu129Asp)
9g.36246245T>CCA464620056CLTA,GNEc.495A>G (p.Glu165=)
c.225A>G (p.Glu75=)
c.402A>G (p.Glu134=)
c.486-16953T>C (n.486-16953T>C)
c.387A>G (p.Glu129=)
9g.36246245T>GCA373418939CLTA,GNEc.495A>C (p.Glu165Asp)
c.225A>C (p.Glu75Asp)
c.402A>C (p.Glu134Asp)
c.486-16953T>G (n.486-16953T>G)
c.387A>C (p.Glu129Asp)
9g.36246246T>ACA373418944CLTA,GNEc.494A>T (p.Glu165Val)
c.224A>T (p.Glu75Val)
c.401A>T (p.Glu134Val)
c.486-16952T>A (n.486-16952T>A)
c.386A>T (p.Glu129Val)
9g.36246246T>CCA373418949CLTA,GNEc.494A>G (p.Glu165Gly)
c.224A>G (p.Glu75Gly)
c.401A>G (p.Glu134Gly)
c.486-16952T>C (n.486-16952T>C)
c.386A>G (p.Glu129Gly)
9g.36246246T>GCA373418947CLTA,GNEc.494A>C (p.Glu165Ala)
c.224A>C (p.Glu75Ala)
c.401A>C (p.Glu134Ala)
c.486-16952T>G (n.486-16952T>G)
c.386A>C (p.Glu129Ala)
9g.36246247C>ACA373418954CLTA,GNEc.493G>T (p.Glu165Ter)
c.223G>T (p.Glu75Ter)
c.400G>T (p.Glu134Ter)
c.486-16951C>A (n.486-16951C>A)
c.385G>T (p.Glu129Ter)
9g.36246247C>GCA373418958CLTA,GNEc.493G>C (p.Glu165Gln)
c.223G>C (p.Glu75Gln)
c.400G>C (p.Glu134Gln)
c.486-16951C>G (n.486-16951C>G)
c.385G>C (p.Glu129Gln)
9g.36246247C>TCA373418964CLTA,GNEc.493G>A (p.Glu165Lys)
c.223G>A (p.Glu75Lys)
c.400G>A (p.Glu134Lys)
c.486-16951C>T (n.486-16951C>T)
c.385G>A (p.Glu129Lys)
9g.36246248A=CA1846320811CLTA,GNEc.492T= (p.Ile164=)
c.222T= (p.Ile74=)
c.399T= (p.Ile133=)
c.486-16950A= (n.486-16950A=)
c.384T= (p.Ile128=)
9g.36246248A>CCA373418967CLTA,GNEc.492T>G (p.Ile164Met)
c.222T>G (p.Ile74Met)
c.399T>G (p.Ile133Met)
c.486-16950A>C (n.486-16950A>C)
c.384T>G (p.Ile128Met)
9g.36246248A>GCA464620061CLTA,GNEc.492T>C (p.Ile164=)
c.222T>C (p.Ile74=)
c.399T>C (p.Ile133=)
c.486-16950A>G (n.486-16950A>G)
c.384T>C (p.Ile128=)
9g.36246248A>TCA464620062CLTA,GNEc.492T>A (p.Ile164=)
c.222T>A (p.Ile74=)
c.399T>A (p.Ile133=)
c.486-16950A>T (n.486-16950A>T)
c.384T>A (p.Ile128=)
9g.36246249A=CA1846320830CLTA,GNEc.491T= (p.Ile164=)
c.221T= (p.Ile74=)
c.398T= (p.Ile133=)
c.486-16949A= (n.486-16949A=)
c.383T= (p.Ile128=)
9g.36246249A>CCA373418971CLTA,GNEc.491T>G (p.Ile164Ser)
c.221T>G (p.Ile74Ser)
c.398T>G (p.Ile133Ser)
c.486-16949A>C (n.486-16949A>C)
c.383T>G (p.Ile128Ser)
9g.36246249A>GCA5056731CLTA,GNEc.491T>C (p.Ile164Thr)
c.221T>C (p.Ile74Thr)
c.398T>C (p.Ile133Thr)
c.486-16949A>G (n.486-16949A>G)
c.383T>C (p.Ile128Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246249A>TCA373418976CLTA,GNEc.491T>A (p.Ile164Asn)
c.221T>A (p.Ile74Asn)
c.398T>A (p.Ile133Asn)
c.486-16949A>T (n.486-16949A>T)
c.383T>A (p.Ile128Asn)
9g.36246249_36246250dupCA1139660956CLTA,GNEc.490_491dup (p.Glu165LeufsTer18)
c.220_221dup (p.Glu75LeufsTer18)
c.397_398dup (p.Glu134LeufsTer18)
c.486-16949_486-16948dup (n.486-16949_486-16948dup)
c.382_383dup (p.Glu129LeufsTer18)
 ClinVar dbSNP
9g.36246250T>ACA373418989CLTA,GNEc.490A>T (p.Ile164Phe)
c.220A>T (p.Ile74Phe)
c.397A>T (p.Ile133Phe)
c.486-16948T>A (n.486-16948T>A)
c.382A>T (p.Ile128Phe)
9g.36246250T>CCA373418980CLTA,GNEc.490A>G (p.Ile164Val)
c.220A>G (p.Ile74Val)
c.397A>G (p.Ile133Val)
c.486-16948T>C (n.486-16948T>C)
c.382A>G (p.Ile128Val)
9g.36246250T>GCA373418985CLTA,GNEc.490A>C (p.Ile164Leu)
c.220A>C (p.Ile74Leu)
c.397A>C (p.Ile133Leu)
c.486-16948T>G (n.486-16948T>G)
c.382A>C (p.Ile128Leu)
9g.36246251G>ACA464620067CLTA,GNEc.489C>T (p.His163=)
c.219C>T (p.His73=)
c.396C>T (p.His132=)
c.486-16947G>A (n.486-16947G>A)
c.381C>T (p.His127=)
 dbSNP
9g.36246251G>CCA373418993CLTA,GNEc.489C>G (p.His163Gln)
c.219C>G (p.His73Gln)
c.396C>G (p.His132Gln)
c.486-16947G>C (n.486-16947G>C)
c.381C>G (p.His127Gln)
9g.36246251G=CA1846320835CLTA,GNEc.489C= (p.His163=)
c.219C= (p.His73=)
c.396C= (p.His132=)
c.486-16947G= (n.486-16947G=)
c.381C= (p.His127=)
9g.36246251G>TCA373418995CLTA,GNEc.489C>A (p.His163Gln)
c.219C>A (p.His73Gln)
c.396C>A (p.His132Gln)
c.486-16947G>T (n.486-16947G>T)
c.381C>A (p.His127Gln)
 gnomAD v4
9g.36246252T>ACA373419000CLTA,GNEc.488A>T (p.His163Leu)
c.218A>T (p.His73Leu)
c.395A>T (p.His132Leu)
c.486-16946T>A (n.486-16946T>A)
c.380A>T (p.His127Leu)
 gnomAD v4
9g.36246252T>CCA373419005CLTA,GNEc.488A>G (p.His163Arg)
c.218A>G (p.His73Arg)
c.395A>G (p.His132Arg)
c.486-16946T>C (n.486-16946T>C)
c.380A>G (p.His127Arg)
9g.36246252T>GCA373419008CLTA,GNEc.488A>C (p.His163Pro)
c.218A>C (p.His73Pro)
c.395A>C (p.His132Pro)
c.486-16946T>G (n.486-16946T>G)
c.380A>C (p.His127Pro)
9g.36246253G>ACA373419018CLTA,GNEc.487C>T (p.His163Tyr)
c.217C>T (p.His73Tyr)
c.394C>T (p.His132Tyr)
c.486-16945G>A (n.486-16945G>A)
c.379C>T (p.His127Tyr)
 COSMIC COSMIC COSMIC
9g.36246253G>CCA373419012CLTA,GNEc.487C>G (p.His163Asp)
c.217C>G (p.His73Asp)
c.394C>G (p.His132Asp)
c.486-16945G>C (n.486-16945G>C)
c.379C>G (p.His127Asp)
9g.36246253G>TCA373419015CLTA,GNEc.487C>A (p.His163Asn)
c.217C>A (p.His73Asn)
c.394C>A (p.His132Asn)
c.486-16945G>T (n.486-16945G>T)
c.379C>A (p.His127Asn)
9g.36246254A>CCA464620069CLTA,GNEc.486T>G (p.Leu162=)
c.216T>G (p.Leu72=)
c.393T>G (p.Leu131=)
c.486-16944A>C (n.486-16944A>C)
c.378T>G (p.Leu126=)
9g.36246254A>GCA464620070CLTA,GNEc.486T>C (p.Leu162=)
c.216T>C (p.Leu72=)
c.393T>C (p.Leu131=)
c.486-16944A>G (n.486-16944A>G)
c.378T>C (p.Leu126=)
9g.36246254A>TCA464620072CLTA,GNEc.486T>A (p.Leu162=)
c.216T>A (p.Leu72=)
c.393T>A (p.Leu131=)
c.486-16944A>T (n.486-16944A>T)
c.378T>A (p.Leu126=)
 gnomAD v4
9g.36246255A>CCA373419025CLTA,GNEc.485T>G (p.Leu162Arg)
c.215T>G (p.Leu72Arg)
c.392T>G (p.Leu131Arg)
c.486-16943A>C (n.486-16943A>C)
c.377T>G (p.Leu126Arg)
9g.36246255A>GCA373419033CLTA,GNEc.485T>C (p.Leu162Pro)
c.215T>C (p.Leu72Pro)
c.392T>C (p.Leu131Pro)
c.486-16943A>G (n.486-16943A>G)
c.377T>C (p.Leu126Pro)
 ClinVar gnomAD v4
9g.36246255A>TCA373419036CLTA,GNEc.485T>A (p.Leu162His)
c.215T>A (p.Leu72His)
c.392T>A (p.Leu131His)
c.486-16943A>T (n.486-16943A>T)
c.377T>A (p.Leu126His)
9g.36246256G>ACA373419039CLTA,GNEc.484C>T (p.Leu162Phe)
c.214C>T (p.Leu72Phe)
c.391C>T (p.Leu131Phe)
c.486-16942G>A (n.486-16942G>A)
c.376C>T (p.Leu126Phe)
9g.36246256G>CCA373419042CLTA,GNEc.484C>G (p.Leu162Val)
c.214C>G (p.Leu72Val)
c.391C>G (p.Leu131Val)
c.486-16942G>C (n.486-16942G>C)
c.376C>G (p.Leu126Val)
 dbSNP gnomAD v4
9g.36246256G=CA1846320841CLTA,GNEc.484C= (p.Leu162=)
c.214C= (p.Leu72=)
c.391C= (p.Leu131=)
c.486-16942G= (n.486-16942G=)
c.376C= (p.Leu126=)
9g.36246256G>TCA373419046CLTA,GNEc.484C>A (p.Leu162Ile)
c.214C>A (p.Leu72Ile)
c.391C>A (p.Leu131Ile)
c.486-16942G>T (n.486-16942G>T)
c.376C>A (p.Leu126Ile)
9g.36246257G>ACA464619709CLTA,GNEc.483C>T (p.Ile161=)
c.213C>T (p.Ile71=)
c.390C>T (p.Ile130=)
c.486-16941G>A (n.486-16941G>A)
c.375C>T (p.Ile125=)
9g.36246257G>CCA373419048CLTA,GNEc.483C>G (p.Ile161Met)
c.213C>G (p.Ile71Met)
c.390C>G (p.Ile130Met)
c.486-16941G>C (n.486-16941G>C)
c.375C>G (p.Ile125Met)
 gnomAD v4
9g.36246257G>TCA464619710CLTA,GNEc.483C>A (p.Ile161=)
c.213C>A (p.Ile71=)
c.390C>A (p.Ile130=)
c.486-16941G>T (n.486-16941G>T)
c.375C>A (p.Ile125=)
9g.36246258A>CCA373419052CLTA,GNEc.482T>G (p.Ile161Ser)
c.212T>G (p.Ile71Ser)
c.389T>G (p.Ile130Ser)
c.486-16940A>C (n.486-16940A>C)
c.374T>G (p.Ile125Ser)
9g.36246258A>GCA373419061CLTA,GNEc.482T>C (p.Ile161Thr)
c.212T>C (p.Ile71Thr)
c.389T>C (p.Ile130Thr)
c.486-16940A>G (n.486-16940A>G)
c.374T>C (p.Ile125Thr)
9g.36246258A>TCA373419063CLTA,GNEc.482T>A (p.Ile161Asn)
c.212T>A (p.Ile71Asn)
c.389T>A (p.Ile130Asn)
c.486-16940A>T (n.486-16940A>T)
c.374T>A (p.Ile125Asn)
9g.36246258_36246259delCA913157669CLTA,GNEc.481_482del (p.Ile161ProfsTer4)
c.211_212del (p.Ile71ProfsTer4)
c.388_389del (p.Ile130ProfsTer4)
c.486-16940_486-16939del (n.486-16940_486-16939del)
c.373_374del (p.Ile125ProfsTer4)
9g.36246258_36246259delinsATCA1846320849CLTA,GNEc.481_482delinsAT (p.Ile161=)
c.211_212delinsAT (p.Ile71=)
c.388_389delinsAT (p.Ile130=)
c.486-16940_486-16939delinsAT (n.486-16940_486-16939delinsAT)
c.373_374delinsAT (p.Ile125=)
9g.36246259T>ACA373419068CLTA,GNEc.481A>T (p.Ile161Phe)
c.211A>T (p.Ile71Phe)
c.388A>T (p.Ile130Phe)
c.486-16939T>A (n.486-16939T>A)
c.373A>T (p.Ile125Phe)
9g.36246259T>CCA373419071CLTA,GNEc.481A>G (p.Ile161Val)
c.211A>G (p.Ile71Val)
c.388A>G (p.Ile130Val)
c.486-16939T>C (n.486-16939T>C)
c.373A>G (p.Ile125Val)
9g.36246259T>GCA373419074CLTA,GNEc.481A>C (p.Ile161Leu)
c.211A>C (p.Ile71Leu)
c.388A>C (p.Ile130Leu)
c.486-16939T>G (n.486-16939T>G)
c.373A>C (p.Ile125Leu)
9g.36246260delCA588147229CLTA,GNEc.481del (p.Ile161SerfsTer21)
c.211del (p.Ile71SerfsTer21)
c.388del (p.Ile130SerfsTer21)
c.486-16938del (n.486-16938del)
c.373del (p.Ile125SerfsTer21)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246260T>ACA464619724CLTA,GNEc.480A>T (p.Arg160=)
c.210A>T (p.Arg70=)
c.387A>T (p.Arg129=)
c.486-16938T>A (n.486-16938T>A)
c.372A>T (p.Arg124=)
9g.36246260T>CCA464619728CLTA,GNEc.480A>G (p.Arg160=)
c.210A>G (p.Arg70=)
c.387A>G (p.Arg129=)
c.486-16938T>C (n.486-16938T>C)
c.372A>G (p.Arg124=)
9g.36246260T>GCA464619730CLTA,GNEc.480A>C (p.Arg160=)
c.210A>C (p.Arg70=)
c.387A>C (p.Arg129=)
c.486-16938T>G (n.486-16938T>G)
c.372A>C (p.Arg124=)
 dbSNP
9g.36246260T=CA1846320864CLTA,GNEc.480A= (p.Arg160=)
c.210A= (p.Arg70=)
c.387A= (p.Arg129=)
c.486-16938T= (n.486-16938T=)
c.372A= (p.Arg124=)
9g.36246261C>ACA373419076CLTA,GNEc.479G>T (p.Arg160Leu)
c.209G>T (p.Arg70Leu)
c.386G>T (p.Arg129Leu)
c.486-16937C>A (n.486-16937C>A)
c.371G>T (p.Arg124Leu)
9g.36246261C=CA1846320870CLTA,GNEc.479G= (p.Arg160=)
c.209G= (p.Arg70=)
c.386G= (p.Arg129=)
c.486-16937C= (n.486-16937C=)
c.371G= (p.Arg124=)
9g.36246261C>GCA373419085CLTA,GNEc.479G>C (p.Arg160Pro)
c.209G>C (p.Arg70Pro)
c.386G>C (p.Arg129Pro)
c.486-16937C>G (n.486-16937C>G)
c.371G>C (p.Arg124Pro)
 gnomAD v4
9g.36246261C>TCA274432CLTA,GNEc.479G>A (p.Arg160Gln)
c.209G>A (p.Arg70Gln)
c.386G>A (p.Arg129Gln)
c.486-16937C>T (n.486-16937C>T)
c.371G>A (p.Arg124Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
9g.36246262G>ACA5056732CLTA,GNEc.478C>T (p.Arg160Ter)
c.208C>T (p.Arg70Ter)
c.385C>T (p.Arg129Ter)
c.486-16936G>A (n.486-16936G>A)
c.370C>T (p.Arg124Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246262G>CCA373419090CLTA,GNEc.478C>G (p.Arg160Gly)
c.208C>G (p.Arg70Gly)
c.385C>G (p.Arg129Gly)
c.486-16936G>C (n.486-16936G>C)
c.370C>G (p.Arg124Gly)
 ClinVar
9g.36246262G=CA1846320879CLTA,GNEc.478C= (p.Arg160=)
c.208C= (p.Arg70=)
c.385C= (p.Arg129=)
c.486-16936G= (n.486-16936G=)
c.370C= (p.Arg124=)
9g.36246262G>TCA464619739CLTA,GNEc.478C>A (p.Arg160=)
c.208C>A (p.Arg70=)
c.385C>A (p.Arg129=)
c.486-16936G>T (n.486-16936G>T)
c.370C>A (p.Arg124=)
9g.36246263G>ACA464619741CLTA,GNEc.477C>T (p.Ile159=)
c.207C>T (p.Ile69=)
c.384C>T (p.Ile128=)
c.486-16935G>A (n.486-16935G>A)
c.369C>T (p.Ile123=)
9g.36246263G>CCA373419094CLTA,GNEc.477C>G (p.Ile159Met)
c.207C>G (p.Ile69Met)
c.384C>G (p.Ile128Met)
c.486-16935G>C (n.486-16935G>C)
c.369C>G (p.Ile123Met)
9g.36246263G>TCA464619746CLTA,GNEc.477C>A (p.Ile159=)
c.207C>A (p.Ile69=)
c.384C>A (p.Ile128=)
c.486-16935G>T (n.486-16935G>T)
c.369C>A (p.Ile123=)
9g.36246264A>CCA373419099CLTA,GNEc.476T>G (p.Ile159Ser)
c.206T>G (p.Ile69Ser)
c.383T>G (p.Ile128Ser)
c.486-16934A>C (n.486-16934A>C)
c.368T>G (p.Ile123Ser)
9g.36246264A>GCA373419102CLTA,GNEc.476T>C (p.Ile159Thr)
c.206T>C (p.Ile69Thr)
c.383T>C (p.Ile128Thr)
c.486-16934A>G (n.486-16934A>G)
c.368T>C (p.Ile123Thr)
9g.36246264A>TCA373419106CLTA,GNEc.476T>A (p.Ile159Asn)
c.206T>A (p.Ile69Asn)
c.383T>A (p.Ile128Asn)
c.486-16934A>T (n.486-16934A>T)
c.368T>A (p.Ile123Asn)
 gnomAD v4
9g.36246264dupCA2695210605CLTA,GNEc.476dup (p.Arg160ProfsTer6)
c.206dup (p.Arg70ProfsTer6)
c.383dup (p.Arg129ProfsTer6)
c.486-16934dup (n.486-16934dup)
c.368dup (p.Arg124ProfsTer6)
9g.36246265T>ACA373419120CLTA,GNEc.475A>T (p.Ile159Phe)
c.205A>T (p.Ile69Phe)
c.382A>T (p.Ile128Phe)
c.486-16933T>A (n.486-16933T>A)
c.367A>T (p.Ile123Phe)
9g.36246265T>CCA373419112CLTA,GNEc.475A>G (p.Ile159Val)
c.205A>G (p.Ile69Val)
c.382A>G (p.Ile128Val)
c.486-16933T>C (n.486-16933T>C)
c.367A>G (p.Ile123Val)
9g.36246265T>GCA373419116CLTA,GNEc.475A>C (p.Ile159Leu)
c.205A>C (p.Ile69Leu)
c.382A>C (p.Ile128Leu)
c.486-16933T>G (n.486-16933T>G)
c.367A>C (p.Ile123Leu)
9g.36246266G>ACA464619754CLTA,GNEc.474C>T (p.Asn158=)
c.204C>T (p.Asn68=)
c.381C>T (p.Asn127=)
c.486-16932G>A (n.486-16932G>A)
c.366C>T (p.Asn122=)
9g.36246266G>CCA373419123CLTA,GNEc.474C>G (p.Asn158Lys)
c.204C>G (p.Asn68Lys)
c.381C>G (p.Asn127Lys)
c.486-16932G>C (n.486-16932G>C)
c.366C>G (p.Asn122Lys)
9g.36246266G>TCA373419126CLTA,GNEc.474C>A (p.Asn158Lys)
c.204C>A (p.Asn68Lys)
c.381C>A (p.Asn127Lys)
c.486-16932G>T (n.486-16932G>T)
c.366C>A (p.Asn122Lys)

Number of alleles fetched