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.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)
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)
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)

Number of alleles fetched