Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.52029634C>ACA2670599112SGCBc.429+44G>T (n.429+44G>T)
c.512+44G>T
c.506+44G>T (n.506+44G>T)
c.132+44G>T (n.132+44G>T)
c.219+44G>T (n.219+44G>T)
gnomAD v4
4g.52029634C>TCA2670599111SGCBc.429+44G>A (n.429+44G>A)
c.512+44G>A
c.506+44G>A (n.506+44G>A)
c.132+44G>A (n.132+44G>A)
c.219+44G>A (n.219+44G>A)
gnomAD v4
4g.52029635C=CA1457429925SGCBc.429+43G= (n.429+43G=)
c.512+43G=
c.506+43G= (n.506+43G=)
c.132+43G= (n.132+43G=)
c.219+43G= (n.219+43G=)
4g.52029635C>GCA2918404SGCBc.429+43G>C (n.429+43G>C)
c.512+43G>C
c.506+43G>C (n.506+43G>C)
c.132+43G>C (n.132+43G>C)
c.219+43G>C (n.219+43G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029636C=CA1457429927SGCBc.429+42G= (n.429+42G=)
c.512+42G=
c.506+42G= (n.506+42G=)
c.132+42G= (n.132+42G=)
c.219+42G= (n.219+42G=)
4g.52029636C>TCA1457429926SGCBc.429+42G>A (n.429+42G>A)
c.512+42G>A
c.506+42G>A (n.506+42G>A)
c.132+42G>A (n.132+42G>A)
c.219+42G>A (n.219+42G>A)
dbSNP gnomAD v4
4g.52029636_52029638delinsCCTCA1457429928SGCBc.429+40_429+42delinsAGG (n.429+40_429+42delinsAGG)
c.512+40_512+42delinsAGG
c.506+40_506+42delinsAGG (n.506+40_506+42delinsAGG)
c.132+40_132+42delinsAGG (n.132+40_132+42delinsAGG)
c.219+40_219+42delinsAGG (n.219+40_219+42delinsAGG)
4g.52029640_52029641delCA796079921SGCBc.429+40_429+41del (n.429+40_429+41del)
c.512+40_512+41del
c.506+40_506+41del (n.506+40_506+41del)
c.132+40_132+41del (n.132+40_132+41del)
c.219+40_219+41del (n.219+40_219+41del)
dbSNP gnomAD v3 gnomAD v4
4g.52029639C>TCA2670599113SGCBc.429+39G>A (n.429+39G>A)
c.512+39G>A
c.506+39G>A (n.506+39G>A)
c.132+39G>A (n.132+39G>A)
c.219+39G>A (n.219+39G>A)
gnomAD v4
4g.52029640T>CCA2670599114SGCBc.429+38A>G (n.429+38A>G)
c.512+38A>G
c.506+38A>G (n.506+38A>G)
c.132+38A>G (n.132+38A>G)
c.219+38A>G (n.219+38A>G)
gnomAD v4
4g.52029641C>TCA2670599115SGCBc.429+37G>A (n.429+37G>A)
c.512+37G>A
c.506+37G>A (n.506+37G>A)
c.132+37G>A (n.132+37G>A)
c.219+37G>A (n.219+37G>A)
gnomAD v4
4g.52029642C=CA1457429929SGCBc.429+36G= (n.429+36G=)
c.512+36G=
c.506+36G= (n.506+36G=)
c.132+36G= (n.132+36G=)
c.219+36G= (n.219+36G=)
4g.52029642C>TCA2918405SGCBc.429+36G>A (n.429+36G>A)
c.512+36G>A
c.506+36G>A (n.506+36G>A)
c.132+36G>A (n.132+36G>A)
c.219+36G>A (n.219+36G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029643T>CCA2670599116SGCBc.429+35A>G (n.429+35A>G)
c.512+35A>G
c.506+35A>G (n.506+35A>G)
c.132+35A>G (n.132+35A>G)
c.219+35A>G (n.219+35A>G)
gnomAD v4
4g.52029644G>ACA2670599117SGCBc.429+34C>T (n.429+34C>T)
c.512+34C>T
c.506+34C>T (n.506+34C>T)
c.132+34C>T (n.132+34C>T)
c.219+34C>T (n.219+34C>T)
gnomAD v4
4g.52029644G>CCA96782924SGCBc.429+34C>G (n.429+34C>G)
c.512+34C>G
c.506+34C>G (n.506+34C>G)
c.132+34C>G (n.132+34C>G)
c.219+34C>G (n.219+34C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52029644G=CA1457429930SGCBc.429+34C= (n.429+34C=)
c.512+34C=
c.506+34C= (n.506+34C=)
c.132+34C= (n.132+34C=)
c.219+34C= (n.219+34C=)
4g.52029644G>TCA2578086669SGCBc.429+34C>A (n.429+34C>A)
c.512+34C>A
c.506+34C>A (n.506+34C>A)
c.132+34C>A (n.132+34C>A)
c.219+34C>A (n.219+34C>A)
gnomAD v4
4g.52029645T>CCA2578086670SGCBc.429+33A>G (n.429+33A>G)
c.512+33A>G
c.506+33A>G (n.506+33A>G)
c.132+33A>G (n.132+33A>G)
c.219+33A>G (n.219+33A>G)
4g.52029646T>CCA2670599118SGCBc.429+32A>G (n.429+32A>G)
c.512+32A>G
c.506+32A>G (n.506+32A>G)
c.132+32A>G (n.132+32A>G)
c.219+32A>G (n.219+32A>G)
gnomAD v4
4g.52029647T>ACA2705793587SGCBc.429+31A>T (n.429+31A>T)
c.512+31A>T
c.506+31A>T (n.506+31A>T)
c.132+31A>T (n.132+31A>T)
c.219+31A>T (n.219+31A>T)
dbSNP
4g.52029647T>CCA96782927SGCBc.429+31A>G (n.429+31A>G)
c.512+31A>G
c.506+31A>G (n.506+31A>G)
c.132+31A>G (n.132+31A>G)
c.219+31A>G (n.219+31A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52029647T=CA1457429931SGCBc.429+31A= (n.429+31A=)
c.512+31A=
c.506+31A= (n.506+31A=)
c.132+31A= (n.132+31A=)
c.219+31A= (n.219+31A=)
4g.52029648G>ACA2670599119SGCBc.429+30C>T (n.429+30C>T)
c.512+30C>T
c.506+30C>T (n.506+30C>T)
c.132+30C>T (n.132+30C>T)
c.219+30C>T (n.219+30C>T)
gnomAD v4
4g.52029648G>TCA2578086671SGCBc.429+30C>A (n.429+30C>A)
c.512+30C>A
c.506+30C>A (n.506+30C>A)
c.132+30C>A (n.132+30C>A)
c.219+30C>A (n.219+30C>A)
gnomAD v4
4g.52029649C=CA1457429932SGCBc.429+29G= (n.429+29G=)
c.512+29G=
c.506+29G= (n.506+29G=)
c.132+29G= (n.132+29G=)
c.219+29G= (n.219+29G=)
4g.52029649C>TCA2918406SGCBc.429+29G>A (n.429+29G>A)
c.512+29G>A
c.506+29G>A (n.506+29G>A)
c.132+29G>A (n.132+29G>A)
c.219+29G>A (n.219+29G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029651T>ACA2918407SGCBc.429+27A>T (n.429+27A>T)
c.512+27A>T
c.506+27A>T (n.506+27A>T)
c.132+27A>T (n.132+27A>T)
c.219+27A>T (n.219+27A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029651T>CCA2918408SGCBc.429+27A>G (n.429+27A>G)
c.512+27A>G
c.506+27A>G (n.506+27A>G)
c.132+27A>G (n.132+27A>G)
c.219+27A>G (n.219+27A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029651T=CA1457429933SGCBc.429+27A= (n.429+27A=)
c.512+27A=
c.506+27A= (n.506+27A=)
c.132+27A= (n.132+27A=)
c.219+27A= (n.219+27A=)
4g.52029652T>GCA2670599120SGCBc.429+26A>C (n.429+26A>C)
c.512+26A>C
c.506+26A>C (n.506+26A>C)
c.132+26A>C (n.132+26A>C)
c.219+26A>C (n.219+26A>C)
gnomAD v4
4g.52029654C>ACA2918409SGCBc.429+24G>T (n.429+24G>T)
c.512+24G>T
c.506+24G>T (n.506+24G>T)
c.132+24G>T (n.132+24G>T)
c.219+24G>T (n.219+24G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029654C=CA1457429934SGCBc.429+24G= (n.429+24G=)
c.512+24G=
c.506+24G= (n.506+24G=)
c.132+24G= (n.132+24G=)
c.219+24G= (n.219+24G=)
4g.52029654C>TCA2670599122SGCBc.429+24G>A (n.429+24G>A)
c.512+24G>A
c.506+24G>A (n.506+24G>A)
c.132+24G>A (n.132+24G>A)
c.219+24G>A (n.219+24G>A)
gnomAD v4
4g.52029655T>CCA551651117SGCBc.429+23A>G (n.429+23A>G)
c.512+23A>G
c.506+23A>G (n.506+23A>G)
c.132+23A>G (n.132+23A>G)
c.219+23A>G (n.219+23A>G)
dbSNP gnomAD v2 gnomAD v4
4g.52029655T=CA1457429935SGCBc.429+23A= (n.429+23A=)
c.512+23A=
c.506+23A= (n.506+23A=)
c.132+23A= (n.132+23A=)
c.219+23A= (n.219+23A=)
4g.52029657T>CCA2670599123SGCBc.429+21A>G (n.429+21A>G)
c.512+21A>G
c.506+21A>G (n.506+21A>G)
c.132+21A>G (n.132+21A>G)
c.219+21A>G (n.219+21A>G)
gnomAD v4
4g.52029658C>ACA2670599124SGCBc.429+20G>T (n.429+20G>T)
c.512+20G>T
c.506+20G>T (n.506+20G>T)
c.132+20G>T (n.132+20G>T)
c.219+20G>T (n.219+20G>T)
gnomAD v4
4g.52029658C=CA1457429936SGCBc.429+20G= (n.429+20G=)
c.512+20G=
c.506+20G= (n.506+20G=)
c.132+20G= (n.132+20G=)
c.219+20G= (n.219+20G=)
4g.52029658C>GCA551651118SGCBc.429+20G>C (n.429+20G>C)
c.512+20G>C
c.506+20G>C (n.506+20G>C)
c.132+20G>C (n.132+20G>C)
c.219+20G>C (n.219+20G>C)
dbSNP gnomAD v2 gnomAD v4
4g.52029658C>TCA2670599125SGCBc.429+20G>A (n.429+20G>A)
c.512+20G>A
c.506+20G>A (n.506+20G>A)
c.132+20G>A (n.132+20G>A)
c.219+20G>A (n.219+20G>A)
gnomAD v4
4g.52029659A=CA1457429937SGCBc.429+19T= (n.429+19T=)
c.512+19T=
c.506+19T= (n.506+19T=)
c.132+19T= (n.132+19T=)
c.219+19T= (n.219+19T=)
4g.52029659A>CCA2670599126SGCBc.429+19T>G (n.429+19T>G)
c.512+19T>G
c.506+19T>G (n.506+19T>G)
c.132+19T>G (n.132+19T>G)
c.219+19T>G (n.219+19T>G)
gnomAD v4
4g.52029659A>GCA1062470998SGCBc.429+19T>C (n.429+19T>C)
c.512+19T>C
c.506+19T>C (n.506+19T>C)
c.132+19T>C (n.132+19T>C)
c.219+19T>C (n.219+19T>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.52029659A>TCA2670599127SGCBc.429+19T>A (n.429+19T>A)
c.512+19T>A
c.506+19T>A (n.506+19T>A)
c.132+19T>A (n.132+19T>A)
c.219+19T>A (n.219+19T>A)
gnomAD v4
4g.52029660G>CCA2670599128SGCBc.429+18C>G (n.429+18C>G)
c.512+18C>G
c.506+18C>G (n.506+18C>G)
c.132+18C>G (n.132+18C>G)
c.219+18C>G (n.219+18C>G)
gnomAD v4
4g.52029660G>TCA2573137896SGCBc.429+18C>A (n.429+18C>A)
c.512+18C>A
c.506+18C>A (n.506+18C>A)
c.132+18C>A (n.132+18C>A)
c.219+18C>A (n.219+18C>A)
ClinVar dbSNP gnomAD v4
4g.52029662_52029667delCA2670599129SGCBc.429+13_429+18del (n.429+13_429+18del)
c.512+13_512+18del
c.506+13_506+18del (n.506+13_506+18del)
c.132+13_132+18del (n.132+13_132+18del)
c.219+13_219+18del (n.219+13_219+18del)
gnomAD v4
4g.52029661T>ACA2918410SGCBc.429+17A>T (n.429+17A>T)
c.512+17A>T
c.506+17A>T (n.506+17A>T)
c.132+17A>T (n.132+17A>T)
c.219+17A>T (n.219+17A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029661T>CCA2578086672SGCBc.429+17A>G (n.429+17A>G)
c.512+17A>G
c.506+17A>G (n.506+17A>G)
c.132+17A>G (n.132+17A>G)
c.219+17A>G (n.219+17A>G)
gnomAD v4
4g.52029661T=CA1457429938SGCBc.429+17A= (n.429+17A=)
c.512+17A=
c.506+17A= (n.506+17A=)
c.132+17A= (n.132+17A=)
c.219+17A= (n.219+17A=)
4g.52029662T>CCA2670599130SGCBc.429+16A>G (n.429+16A>G)
c.512+16A>G
c.506+16A>G (n.506+16A>G)
c.132+16A>G (n.132+16A>G)
c.219+16A>G (n.219+16A>G)
gnomAD v4
4g.52029663A=CA1457429939SGCBc.429+15T= (n.429+15T=)
c.512+15T=
c.506+15T= (n.506+15T=)
c.132+15T= (n.132+15T=)
c.219+15T= (n.219+15T=)
4g.52029663A>CCA2918411SGCBc.429+15T>G (n.429+15T>G)
c.512+15T>G
c.506+15T>G (n.506+15T>G)
c.132+15T>G (n.132+15T>G)
c.219+15T>G (n.219+15T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029664A>GCA2761641288SGCBc.429+14T>C (n.429+14T>C)
c.512+14T>C
c.506+14T>C (n.506+14T>C)
c.132+14T>C (n.132+14T>C)
c.219+14T>C (n.219+14T>C)
4g.52029665T>CCA2918412SGCBc.429+13A>G (n.429+13A>G)
c.512+13A>G
c.506+13A>G (n.506+13A>G)
c.132+13A>G (n.132+13A>G)
c.219+13A>G (n.219+13A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029665T>GCA796079946SGCBc.429+13A>C (n.429+13A>C)
c.512+13A>C
c.506+13A>C (n.506+13A>C)
c.132+13A>C (n.132+13A>C)
c.219+13A>C (n.219+13A>C)
dbSNP
4g.52029665T=CA1457429940SGCBc.429+13A= (n.429+13A=)
c.512+13A=
c.506+13A= (n.506+13A=)
c.132+13A= (n.132+13A=)
c.219+13A= (n.219+13A=)
4g.52029666G>ACA96782955SGCBc.429+12C>T (n.429+12C>T)
c.512+12C>T
c.506+12C>T (n.506+12C>T)
c.132+12C>T (n.132+12C>T)
c.219+12C>T (n.219+12C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.52029666G=CA1457429941SGCBc.429+12C= (n.429+12C=)
c.512+12C=
c.506+12C= (n.506+12C=)
c.132+12C= (n.132+12C=)
c.219+12C= (n.219+12C=)
4g.52029666G>TCA2670599131SGCBc.429+12C>A (n.429+12C>A)
c.512+12C>A
c.506+12C>A (n.506+12C>A)
c.132+12C>A (n.132+12C>A)
c.219+12C>A (n.219+12C>A)
gnomAD v4
4g.52029668G>ACA2670599132SGCBc.429+10C>T (n.429+10C>T)
c.512+10C>T
c.506+10C>T (n.506+10C>T)
c.132+10C>T (n.132+10C>T)
c.219+10C>T (n.219+10C>T)
gnomAD v4
4g.52029668G>TCA2670599133SGCBc.429+10C>A (n.429+10C>A)
c.512+10C>A
c.506+10C>A (n.506+10C>A)
c.132+10C>A (n.132+10C>A)
c.219+10C>A (n.219+10C>A)
gnomAD v4
4g.52029669delCA2578086673SGCBc.429+10del (n.429+10del)
c.512+10del
c.506+10del (n.506+10del)
c.132+10del (n.132+10del)
c.219+10del (n.219+10del)
4g.52029669G>ACA2670599134SGCBc.429+9C>T (n.429+9C>T)
c.512+9C>T
c.506+9C>T (n.506+9C>T)
c.132+9C>T (n.132+9C>T)
c.219+9C>T (n.219+9C>T)
gnomAD v4
4g.52029669G>TCA2670599135SGCBc.429+9C>A (n.429+9C>A)
c.512+9C>A
c.506+9C>A (n.506+9C>A)
c.132+9C>A (n.132+9C>A)
c.219+9C>A (n.219+9C>A)
gnomAD v4
4g.52029670C=CA1457429942SGCBc.429+8G= (n.429+8G=)
c.512+8G=
c.506+8G= (n.506+8G=)
c.132+8G= (n.132+8G=)
c.219+8G= (n.219+8G=)
4g.52029670C>TCA551651119SGCBc.429+8G>A (n.429+8G>A)
c.512+8G>A
c.506+8G>A (n.506+8G>A)
c.132+8G>A (n.132+8G>A)
c.219+8G>A (n.219+8G>A)
dbSNP gnomAD v2 gnomAD v4
4g.52029673C=CA1457429943SGCBc.429+5G= (n.429+5G=)
c.512+5G=
c.506+5G= (n.506+5G=)
c.132+5G= (n.132+5G=)
c.219+5G= (n.219+5G=)
4g.52029673C>TCA243128SGCBc.429+5G>A (n.429+5G>A)
c.512+5G>A
c.506+5G>A (n.506+5G>A)
c.132+5G>A (n.132+5G>A)
c.219+5G>A (n.219+5G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.52029675delCA2670599136SGCBc.429+4del (n.429+4del)
c.512+4del
c.506+4del (n.506+4del)
c.132+4del (n.132+4del)
c.219+4del (n.219+4del)
gnomAD v4
4g.52029676A>CCA356877113SGCBc.429+2T>G (n.429+2T>G)
c.512+2T>G
c.506+2T>G (n.506+2T>G)
c.132+2T>G (n.132+2T>G)
c.219+2T>G (n.219+2T>G)
4g.52029676A>GCA356877114SGCBc.429+2T>C (n.429+2T>C)
c.512+2T>C
c.506+2T>C (n.506+2T>C)
c.132+2T>C (n.132+2T>C)
c.219+2T>C (n.219+2T>C)
4g.52029676A>TCA356877115SGCBc.429+2T>A (n.429+2T>A)
c.512+2T>A
c.506+2T>A (n.506+2T>A)
c.132+2T>A (n.132+2T>A)
c.219+2T>A (n.219+2T>A)
gnomAD v4
4g.52029676dupCA2695199380SGCBc.429+2dup (n.429+2dup)
c.512+2dup
c.506+2dup (n.506+2dup)
c.132+2dup (n.132+2dup)
c.219+2dup (n.219+2dup)
ClinVar
4g.52029677C>ACA356877116SGCBc.429+1G>T (n.429+1G>T)
c.512+1G>T
c.506+1G>T (n.506+1G>T)
c.132+1G>T (n.132+1G>T)
c.219+1G>T (n.219+1G>T)
4g.52029677C>GCA356877117SGCBc.429+1G>C (n.429+1G>C)
c.512+1G>C
c.506+1G>C (n.506+1G>C)
c.132+1G>C (n.132+1G>C)
c.219+1G>C (n.219+1G>C)
4g.52029677C>TCA356877118SGCBc.429+1G>A (n.429+1G>A)
c.512+1G>A
c.506+1G>A (n.506+1G>A)
c.132+1G>A (n.132+1G>A)
c.219+1G>A (n.219+1G>A)
gnomAD v4
4g.52029678A>CCA439274189SGCBc.429T>G (p.Pro143=)
c.512T>G
c.506T>G (n.506T>G)
c.132T>G (p.Pro44=)
c.219T>G (p.Pro73=)
4g.52029678A>GCA439274190SGCBc.429T>C (p.Pro143=)
c.512T>C
c.506T>C (n.506T>C)
c.132T>C (p.Pro44=)
c.219T>C (p.Pro73=)
4g.52029678A>TCA439274191SGCBc.429T>A (p.Pro143=)
c.512T>A
c.506T>A (n.506T>A)
c.132T>A (p.Pro44=)
c.219T>A (p.Pro73=)
4g.52029679G>ACA356877120SGCBc.428C>T (p.Pro143Leu)
c.511C>T
c.505C>T (n.505C>T)
c.131C>T (p.Pro44Leu)
c.218C>T (p.Pro73Leu)
4g.52029679G>CCA356877121SGCBc.428C>G (p.Pro143Arg)
c.511C>G
c.505C>G (n.505C>G)
c.131C>G (p.Pro44Arg)
c.218C>G (p.Pro73Arg)
4g.52029679G>TCA356877119SGCBc.428C>A (p.Pro143His)
c.511C>A
c.505C>A (n.505C>A)
c.131C>A (p.Pro44His)
c.218C>A (p.Pro73His)
gnomAD v4
4g.52029679_52029680insTTAATCA2670599138SGCBc.427_428insATTAA (p.Pro143HisfsTer2)
c.510_511insATTAA
c.504_505insATTAA (n.504_505insATTAA)
c.130_131insATTAA (p.Pro44HisfsTer2)
c.217_218insATTAA (p.Pro73HisfsTer2)
gnomAD v4
4g.52029680G>ACA356877124SGCBc.427C>T (p.Pro143Ser)
c.510C>T
c.504C>T (n.504C>T)
c.130C>T (p.Pro44Ser)
c.217C>T (p.Pro73Ser)
4g.52029680G>CCA356877122SGCBc.427C>G (p.Pro143Ala)
c.510C>G
c.504C>G (n.504C>G)
c.130C>G (p.Pro44Ala)
c.217C>G (p.Pro73Ala)
dbSNP gnomAD v2 gnomAD v4
4g.52029680G=CA1457429944SGCBc.427C= (p.Pro143=)
c.510C=
c.504C= (n.504C=)
c.130C= (p.Pro44=)
c.217C= (p.Pro73=)
4g.52029680G>TCA356877123SGCBc.427C>A (p.Pro143Thr)
c.510C>A
c.504C>A (n.504C>A)
c.130C>A (p.Pro44Thr)
c.217C>A (p.Pro73Thr)
gnomAD v4
4g.52029680_52029681insTGGCAACA2670599139SGCBc.426_427insTTGCCA (p.Gln142_Pro143insLeuPro)
c.509_510insTTGCCA
c.503_504insTTGCCA (n.503_504insTTGCCA)
c.129_130insTTGCCA (p.Gln43_Pro44insLeuPro)
c.216_217insTTGCCA (p.Gln72_Pro73insLeuPro)
gnomAD v4
4g.52029681C>ACA356877125SGCBc.426G>T (p.Gln142His)
c.509G>T
c.503G>T (n.503G>T)
c.129G>T (p.Gln43His)
c.216G>T (p.Gln72His)
4g.52029681C=CA1457429945SGCBc.426G= (p.Gln142=)
c.509G=
c.503G= (n.503G=)
c.129G= (p.Gln43=)
c.216G= (p.Gln72=)
4g.52029681C>GCA356877126SGCBc.426G>C (p.Gln142His)
c.509G>C
c.503G>C (n.503G>C)
c.129G>C (p.Gln43His)
c.216G>C (p.Gln72His)
4g.52029681C>TCA2918413SGCBc.426G>A (p.Gln142=)
c.509G>A
c.503G>A (n.503G>A)
c.129G>A (p.Gln43=)
c.216G>A (p.Gln72=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029682T>ACA356877127SGCBc.425A>T (p.Gln142Leu)
c.508A>T
c.502A>T (n.502A>T)
c.128A>T (p.Gln43Leu)
c.215A>T (p.Gln72Leu)
4g.52029682T>CCA356877128SGCBc.425A>G (p.Gln142Arg)
c.508A>G
c.502A>G (n.502A>G)
c.128A>G (p.Gln43Arg)
c.215A>G (p.Gln72Arg)
4g.52029682T>GCA356877129SGCBc.425A>C (p.Gln142Pro)
c.508A>C
c.502A>C (n.502A>C)
c.128A>C (p.Gln43Pro)
c.215A>C (p.Gln72Pro)
4g.52029683G>ACA356877130SGCBc.424C>T (p.Gln142Ter)
c.507C>T
c.501C>T (n.501C>T)
c.127C>T (p.Gln43Ter)
c.214C>T (p.Gln72Ter)
dbSNP
4g.52029683G>CCA356877131SGCBc.424C>G (p.Gln142Glu)
c.507C>G
c.501C>G (n.501C>G)
c.127C>G (p.Gln43Glu)
c.214C>G (p.Gln72Glu)
4g.52029683G=CA1457429946SGCBc.424C= (p.Gln142=)
c.507C=
c.501C= (n.501C=)
c.127C= (p.Gln43=)
c.214C= (p.Gln72=)
4g.52029683G>TCA356877132SGCBc.424C>A (p.Gln142Lys)
c.507C>A
c.501C>A (n.501C>A)
c.127C>A (p.Gln43Lys)
c.214C>A (p.Gln72Lys)
4g.52029684G>ACA439274196SGCBc.423C>T (p.Asn141=)
c.506C>T
c.500C>T (n.500C>T)
c.126C>T (p.Asn42=)
c.213C>T (p.Asn71=)
4g.52029684G>CCA356877133SGCBc.423C>G (p.Asn141Lys)
c.506C>G
c.500C>G (n.500C>G)
c.126C>G (p.Asn42Lys)
c.213C>G (p.Asn71Lys)
4g.52029684G>TCA356877134SGCBc.423C>A (p.Asn141Lys)
c.506C>A
c.500C>A (n.500C>A)
c.126C>A (p.Asn42Lys)
c.213C>A (p.Asn71Lys)
gnomAD v4
4g.52029685T>ACA2918414SGCBc.422A>T (p.Asn141Ile)
c.505A>T
c.499A>T (n.499A>T)
c.125A>T (p.Asn42Ile)
c.212A>T (p.Asn71Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029685T>CCA356877135SGCBc.422A>G (p.Asn141Ser)
c.505A>G
c.499A>G (n.499A>G)
c.125A>G (p.Asn42Ser)
c.212A>G (p.Asn71Ser)
dbSNP gnomAD v2 gnomAD v4
4g.52029685T>GCA356877136SGCBc.422A>C (p.Asn141Thr)
c.505A>C
c.499A>C (n.499A>C)
c.125A>C (p.Asn42Thr)
c.212A>C (p.Asn71Thr)
dbSNP
4g.52029685T=CA1457429947SGCBc.422A= (p.Asn141=)
c.505A=
c.499A= (n.499A=)
c.125A= (p.Asn42=)
c.212A= (p.Asn71=)
4g.52029686T>ACA356877137SGCBc.421A>T (p.Asn141Tyr)
c.504A>T
c.498A>T (n.498A>T)
c.124A>T (p.Asn42Tyr)
c.211A>T (p.Asn71Tyr)
4g.52029686T>CCA356877138SGCBc.421A>G (p.Asn141Asp)
c.504A>G
c.498A>G (n.498A>G)
c.124A>G (p.Asn42Asp)
c.211A>G (p.Asn71Asp)
dbSNP gnomAD v2 gnomAD v4
4g.52029686T>GCA356877139SGCBc.421A>C (p.Asn141His)
c.504A>C
c.498A>C (n.498A>C)
c.124A>C (p.Asn42His)
c.211A>C (p.Asn71His)
4g.52029686T=CA1457429948SGCBc.421A= (p.Asn141=)
c.504A=
c.498A= (n.498A=)
c.124A= (p.Asn42=)
c.211A= (p.Asn71=)
4g.52029687G>ACA439274200SGCBc.420C>T (p.Asn140=)
c.503C>T
c.497C>T (n.497C>T)
c.123C>T (p.Asn41=)
c.210C>T (p.Asn70=)
dbSNP gnomAD v3 gnomAD v4
4g.52029687G>CCA356877140SGCBc.420C>G (p.Asn140Lys)
c.503C>G
c.497C>G (n.497C>G)
c.123C>G (p.Asn41Lys)
c.210C>G (p.Asn70Lys)
gnomAD v4
4g.52029687G=CA1457429949SGCBc.420C= (p.Asn140=)
c.503C=
c.497C= (n.497C=)
c.123C= (p.Asn41=)
c.210C= (p.Asn70=)
4g.52029687G>TCA356877141SGCBc.420C>A (p.Asn140Lys)
c.503C>A
c.497C>A (n.497C>A)
c.123C>A (p.Asn41Lys)
c.210C>A (p.Asn70Lys)
4g.52029688T>ACA356877142SGCBc.419A>T (p.Asn140Ile)
c.502A>T
c.496A>T (n.496A>T)
c.122A>T (p.Asn41Ile)
c.209A>T (p.Asn70Ile)
4g.52029688T>CCA2918415SGCBc.419A>G (p.Asn140Ser)
c.502A>G
c.496A>G (n.496A>G)
c.122A>G (p.Asn41Ser)
c.209A>G (p.Asn70Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029688T>GCA356877143SGCBc.419A>C (p.Asn140Thr)
c.502A>C
c.496A>C (n.496A>C)
c.122A>C (p.Asn41Thr)
c.209A>C (p.Asn70Thr)
4g.52029688T=CA1457429950SGCBc.419A= (p.Asn140=)
c.502A=
c.496A= (n.496A=)
c.122A= (p.Asn41=)
c.209A= (p.Asn70=)
4g.52029689T>ACA356877144SGCBc.418A>T (p.Asn140Tyr)
c.501A>T
c.495A>T (n.495A>T)
c.121A>T (p.Asn41Tyr)
c.208A>T (p.Asn70Tyr)
4g.52029689T>CCA356877145SGCBc.418A>G (p.Asn140Asp)
c.501A>G
c.495A>G (n.495A>G)
c.121A>G (p.Asn41Asp)
c.208A>G (p.Asn70Asp)
4g.52029689T>GCA356877146SGCBc.418A>C (p.Asn140His)
c.501A>C
c.495A>C (n.495A>C)
c.121A>C (p.Asn41His)
c.208A>C (p.Asn70His)
4g.52029690G>ACA2918416SGCBc.417C>T (p.Gly139=)
c.500C>T
c.494C>T (n.494C>T)
c.120C>T (p.Gly40=)
c.207C>T (p.Gly69=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029690G>CCA439274204SGCBc.417C>G (p.Gly139=)
c.500C>G
c.494C>G (n.494C>G)
c.120C>G (p.Gly40=)
c.207C>G (p.Gly69=)
4g.52029690G=CA1457429951SGCBc.417C= (p.Gly139=)
c.500C=
c.494C= (n.494C=)
c.120C= (p.Gly40=)
c.207C= (p.Gly69=)
4g.52029690G>TCA439274205SGCBc.417C>A (p.Gly139=)
c.500C>A
c.494C>A (n.494C>A)
c.120C>A (p.Gly40=)
c.207C>A (p.Gly69=)
ClinVar gnomAD v4
4g.52029691C>ACA356877149SGCBc.416G>T (p.Gly139Val)
c.499G>T
c.493G>T (n.493G>T)
c.119G>T (p.Gly40Val)
c.206G>T (p.Gly69Val)
4g.52029691C=CA1457429952SGCBc.416G= (p.Gly139=)
c.499G=
c.493G= (n.493G=)
c.119G= (p.Gly40=)
c.206G= (p.Gly69=)
4g.52029691C>GCA356877148SGCBc.416G>C (p.Gly139Ala)
c.499G>C
c.493G>C (n.493G>C)
c.119G>C (p.Gly40Ala)
c.206G>C (p.Gly69Ala)
4g.52029691C>TCA356877147SGCBc.416G>A (p.Gly139Asp)
c.499G>A
c.493G>A (n.493G>A)
c.119G>A (p.Gly40Asp)
c.206G>A (p.Gly69Asp)
ClinVar dbSNP
4g.52029692C>ACA356877150SGCBc.415G>T (p.Gly139Cys)
c.498G>T
c.492G>T (n.492G>T)
c.118G>T (p.Gly40Cys)
c.205G>T (p.Gly69Cys)
4g.52029692C=CA1457429953SGCBc.415G= (p.Gly139=)
c.498G=
c.492G= (n.492G=)
c.118G= (p.Gly40=)
c.205G= (p.Gly69=)
4g.52029692C>GCA356877151SGCBc.415G>C (p.Gly139Arg)
c.498G>C
c.492G>C (n.492G>C)
c.118G>C (p.Gly40Arg)
c.205G>C (p.Gly69Arg)
4g.52029692C>TCA356877152SGCBc.415G>A (p.Gly139Ser)
c.498G>A
c.492G>A (n.492G>A)
c.118G>A (p.Gly40Ser)
c.205G>A (p.Gly69Ser)
dbSNP gnomAD v2 gnomAD v4
4g.52029693delCA2705878197SGCBc.414del (p.Gly139AlafsTer17)
c.497del
c.491del (n.491del)
c.117del (p.Gly40AlafsTer17)
c.204del (p.Gly69AlafsTer17)
dbSNP
4g.52029693A=CA1457429954SGCBc.414T= (p.Thr138=)
c.497T=
c.491T= (n.491T=)
c.117T= (p.Thr39=)
c.204T= (p.Thr68=)
4g.52029693A>CCA439274206SGCBc.414T>G (p.Thr138=)
c.497T>G
c.491T>G (n.491T>G)
c.117T>G (p.Thr39=)
c.204T>G (p.Thr68=)
dbSNP
4g.52029693A>GCA439274207SGCBc.414T>C (p.Thr138=)
c.497T>C
c.491T>C (n.491T>C)
c.117T>C (p.Thr39=)
c.204T>C (p.Thr68=)
4g.52029693A>TCA439274208SGCBc.414T>A (p.Thr138=)
c.497T>A
c.491T>A (n.491T>A)
c.117T>A (p.Thr39=)
c.204T>A (p.Thr68=)
4g.52029694G>ACA356877153SGCBc.413C>T (p.Thr138Ile)
c.496C>T
c.490C>T (n.490C>T)
c.116C>T (p.Thr39Ile)
c.203C>T (p.Thr68Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52029694G>CCA356877154SGCBc.413C>G (p.Thr138Ser)
c.496C>G
c.490C>G (n.490C>G)
c.116C>G (p.Thr39Ser)
c.203C>G (p.Thr68Ser)
4g.52029694G=CA1457429955SGCBc.413C= (p.Thr138=)
c.496C=
c.490C= (n.490C=)
c.116C= (p.Thr39=)
c.203C= (p.Thr68=)
4g.52029694G>TCA356877155SGCBc.413C>A (p.Thr138Asn)
c.496C>A
c.490C>A (n.490C>A)
c.116C>A (p.Thr39Asn)
c.203C>A (p.Thr68Asn)
4g.52029695T>ACA356877156SGCBc.412A>T (p.Thr138Ser)
c.495A>T
c.489A>T (n.489A>T)
c.115A>T (p.Thr39Ser)
c.202A>T (p.Thr68Ser)
dbSNP gnomAD v4
4g.52029695T>CCA356877157SGCBc.412A>G (p.Thr138Ala)
c.495A>G
c.489A>G (n.489A>G)
c.115A>G (p.Thr39Ala)
c.202A>G (p.Thr68Ala)
gnomAD v4
4g.52029695T>GCA356877158SGCBc.412A>C (p.Thr138Pro)
c.495A>C
c.489A>C (n.489A>C)
c.115A>C (p.Thr39Pro)
c.202A>C (p.Thr68Pro)
4g.52029695T=CA1457429956SGCBc.412A= (p.Thr138=)
c.495A=
c.489A= (n.489A=)
c.115A= (p.Thr39=)
c.202A= (p.Thr68=)
4g.52029696G>ACA439274210SGCBc.411C>T (p.Ile137=)
c.494C>T
c.488C>T (n.488C>T)
c.114C>T (p.Ile38=)
c.201C>T (p.Ile67=)
4g.52029696G>CCA356877159SGCBc.411C>G (p.Ile137Met)
c.494C>G
c.488C>G (n.488C>G)
c.114C>G (p.Ile38Met)
c.201C>G (p.Ile67Met)
4g.52029696G>TCA439274211SGCBc.411C>A (p.Ile137=)
c.494C>A
c.488C>A (n.488C>A)
c.114C>A (p.Ile38=)
c.201C>A (p.Ile67=)
4g.52029697A>CCA356877160SGCBc.410T>G (p.Ile137Ser)
c.493T>G
c.487T>G (n.487T>G)
c.113T>G (p.Ile38Ser)
c.200T>G (p.Ile67Ser)
4g.52029697A>GCA356877161SGCBc.410T>C (p.Ile137Thr)
c.493T>C
c.487T>C (n.487T>C)
c.113T>C (p.Ile38Thr)
c.200T>C (p.Ile67Thr)
4g.52029697A>TCA356877162SGCBc.410T>A (p.Ile137Asn)
c.493T>A
c.487T>A (n.487T>A)
c.113T>A (p.Ile38Asn)
c.200T>A (p.Ile67Asn)
4g.52029698T>ACA356877165SGCBc.409A>T (p.Ile137Phe)
c.492A>T
c.486A>T (n.486A>T)
c.112A>T (p.Ile38Phe)
c.199A>T (p.Ile67Phe)
4g.52029698T>CCA356877163SGCBc.409A>G (p.Ile137Val)
c.492A>G
c.486A>G (n.486A>G)
c.112A>G (p.Ile38Val)
c.199A>G (p.Ile67Val)
4g.52029698T>GCA356877164SGCBc.409A>C (p.Ile137Leu)
c.492A>C
c.486A>C (n.486A>C)
c.112A>C (p.Ile38Leu)
c.199A>C (p.Ile67Leu)
4g.52029699G>ACA439274213SGCBc.408C>T (p.Val136=)
c.491C>T
c.485C>T (n.485C>T)
c.111C>T (p.Val37=)
c.198C>T (p.Val66=)
ClinVar dbSNP gnomAD v4
4g.52029699G>CCA439274214SGCBc.408C>G (p.Val136=)
c.491C>G
c.485C>G (n.485C>G)
c.111C>G (p.Val37=)
c.198C>G (p.Val66=)
4g.52029699G>TCA439274216SGCBc.408C>A (p.Val136=)
c.491C>A
c.485C>A (n.485C>A)
c.111C>A (p.Val37=)
c.198C>A (p.Val66=)
gnomAD v4
4g.52029700A=CA1457429957SGCBc.407T= (p.Val136=)
c.490T=
c.484T= (n.484T=)
c.110T= (p.Val37=)
c.197T= (p.Val66=)
4g.52029700A>CCA2918417SGCBc.407T>G (p.Val136Gly)
c.490T>G
c.484T>G (n.484T>G)
c.110T>G (p.Val37Gly)
c.197T>G (p.Val66Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029700A>GCA356877166SGCBc.407T>C (p.Val136Ala)
c.490T>C
c.484T>C (n.484T>C)
c.110T>C (p.Val37Ala)
c.197T>C (p.Val66Ala)
4g.52029700A>TCA356877167SGCBc.407T>A (p.Val136Asp)
c.490T>A
c.484T>A (n.484T>A)
c.110T>A (p.Val37Asp)
c.197T>A (p.Val66Asp)
4g.52029701C>ACA356877168SGCBc.406G>T (p.Val136Phe)
c.489G>T
c.483G>T (n.483G>T)
c.109G>T (p.Val37Phe)
c.196G>T (p.Val66Phe)
4g.52029701C>GCA356877169SGCBc.406G>C (p.Val136Leu)
c.489G>C
c.483G>C (n.483G>C)
c.109G>C (p.Val37Leu)
c.196G>C (p.Val66Leu)
4g.52029701C>TCA356877170SGCBc.406G>A (p.Val136Ile)
c.489G>A
c.483G>A (n.483G>A)
c.109G>A (p.Val37Ile)
c.196G>A (p.Val66Ile)
4g.52029702C>ACA356877171SGCBc.405G>T (p.Leu135Phe)
c.488G>T
c.482G>T (n.482G>T)
c.108G>T (p.Leu36Phe)
c.195G>T (p.Leu65Phe)
dbSNP gnomAD v3 gnomAD v4
4g.52029702C=CA1457429958SGCBc.405G= (p.Leu135=)
c.488G=
c.482G= (n.482G=)
c.108G= (p.Leu36=)
c.195G= (p.Leu65=)
4g.52029702C>GCA356877172SGCBc.405G>C (p.Leu135Phe)
c.488G>C
c.482G>C (n.482G>C)
c.108G>C (p.Leu36Phe)
c.195G>C (p.Leu65Phe)
4g.52029702C>TCA439274219SGCBc.405G>A (p.Leu135=)
c.488G>A
c.482G>A (n.482G>A)
c.108G>A (p.Leu36=)
c.195G>A (p.Leu65=)
ClinVar dbSNP
4g.52029703A>CCA356877173SGCBc.404T>G (p.Leu135Trp)
c.487T>G
c.481T>G (n.481T>G)
c.107T>G (p.Leu36Trp)
c.194T>G (p.Leu65Trp)
ClinVar gnomAD v4
4g.52029703A>GCA356877174SGCBc.404T>C (p.Leu135Ser)
c.487T>C
c.481T>C (n.481T>C)
c.107T>C (p.Leu36Ser)
c.194T>C (p.Leu65Ser)
4g.52029703A>TCA356877175SGCBc.404T>A (p.Leu135Ter)
c.487T>A
c.481T>A (n.481T>A)
c.107T>A (p.Leu36Ter)
c.194T>A (p.Leu65Ter)
ClinVar
4g.52029704A=CA1457429959SGCBc.403T= (p.Leu135=)
c.486T=
c.480T= (n.480T=)
c.106T= (p.Leu36=)
c.193T= (p.Leu65=)
4g.52029704A>CCA356877176SGCBc.403T>G (p.Leu135Val)
c.486T>G
c.480T>G (n.480T>G)
c.106T>G (p.Leu36Val)
c.193T>G (p.Leu65Val)
gnomAD v4
4g.52029704A>GCA439274220SGCBc.403T>C (p.Leu135=)
c.486T>C
c.480T>C (n.480T>C)
c.106T>C (p.Leu36=)
c.193T>C (p.Leu65=)
ClinVar dbSNP gnomAD v4
4g.52029704A>TCA356877177SGCBc.403T>A (p.Leu135Met)
c.486T>A
c.480T>A (n.480T>A)
c.106T>A (p.Leu36Met)
c.193T>A (p.Leu65Met)
dbSNP
4g.52029705A>CCA356877179SGCBc.402T>G (p.Asn134Lys)
c.485T>G
c.479T>G (n.479T>G)
c.105T>G (p.Asn35Lys)
c.192T>G (p.Asn64Lys)
4g.52029705A>GCA439274226SGCBc.402T>C (p.Asn134=)
c.485T>C
c.479T>C (n.479T>C)
c.105T>C (p.Asn35=)
c.192T>C (p.Asn64=)
4g.52029705A>TCA356877178SGCBc.402T>A (p.Asn134Lys)
c.485T>A
c.479T>A (n.479T>A)
c.105T>A (p.Asn35Lys)
c.192T>A (p.Asn64Lys)
4g.52029706T>ACA356877180SGCBc.401A>T (p.Asn134Ile)
c.484A>T
c.478A>T (n.478A>T)
c.104A>T (p.Asn35Ile)
c.191A>T (p.Asn64Ile)
4g.52029706T>CCA356877182SGCBc.401A>G (p.Asn134Ser)
c.484A>G
c.478A>G (n.478A>G)
c.104A>G (p.Asn35Ser)
c.191A>G (p.Asn64Ser)
4g.52029706T>GCA356877181SGCBc.401A>C (p.Asn134Thr)
c.484A>C
c.478A>C (n.478A>C)
c.104A>C (p.Asn35Thr)
c.191A>C (p.Asn64Thr)
4g.52029707T>ACA356877183SGCBc.400A>T (p.Asn134Tyr)
c.483A>T
c.477A>T (n.477A>T)
c.103A>T (p.Asn35Tyr)
c.190A>T (p.Asn64Tyr)
4g.52029707T>CCA356877185SGCBc.400A>G (p.Asn134Asp)
c.483A>G
c.477A>G (n.477A>G)
c.103A>G (p.Asn35Asp)
c.190A>G (p.Asn64Asp)
4g.52029707T>GCA356877184SGCBc.400A>C (p.Asn134His)
c.483A>C
c.477A>C (n.477A>C)
c.103A>C (p.Asn35His)
c.190A>C (p.Asn64His)
dbSNP
4g.52029707T=CA1457429960SGCBc.400A= (p.Asn134=)
c.483A=
c.477A= (n.477A=)
c.103A= (p.Asn35=)
c.190A= (p.Asn64=)
4g.52029708T>ACA356877186SGCBc.399A>T (p.Glu133Asp)
c.482A>T
c.476A>T (n.476A>T)
c.102A>T (p.Glu34Asp)
c.189A>T (p.Glu63Asp)
4g.52029708T>CCA439274227SGCBc.399A>G (p.Glu133=)
c.482A>G
c.476A>G (n.476A>G)
c.102A>G (p.Glu34=)
c.189A>G (p.Glu63=)
4g.52029708T>GCA356877187SGCBc.399A>C (p.Glu133Asp)
c.482A>C
c.476A>C (n.476A>C)
c.102A>C (p.Glu34Asp)
c.189A>C (p.Glu63Asp)
4g.52029709T>ACA356877188SGCBc.398A>T (p.Glu133Val)
c.481A>T
c.475A>T (n.475A>T)
c.101A>T (p.Glu34Val)
c.188A>T (p.Glu63Val)
4g.52029709T>CCA356877189SGCBc.398A>G (p.Glu133Gly)
c.481A>G
c.475A>G (n.475A>G)
c.101A>G (p.Glu34Gly)
c.188A>G (p.Glu63Gly)
4g.52029709T>GCA356877190SGCBc.398A>C (p.Glu133Ala)
c.481A>C
c.475A>C (n.475A>C)
c.101A>C (p.Glu34Ala)
c.188A>C (p.Glu63Ala)
4g.52029710C>ACA356877191SGCBc.397G>T (p.Glu133Ter)
c.480G>T
c.474G>T (n.474G>T)
c.100G>T (p.Glu34Ter)
c.187G>T (p.Glu63Ter)
4g.52029710C>GCA356877192SGCBc.397G>C (p.Glu133Gln)
c.480G>C
c.474G>C (n.474G>C)
c.100G>C (p.Glu34Gln)
c.187G>C (p.Glu63Gln)
4g.52029710C>TCA356877193SGCBc.397G>A (p.Glu133Lys)
c.480G>A
c.474G>A (n.474G>A)
c.100G>A (p.Glu34Lys)
c.187G>A (p.Glu63Lys)
gnomAD v4
4g.52029711A>CCA356877194SGCBc.396T>G (p.Asn132Lys)
c.479T>G
c.473T>G (n.473T>G)
c.99T>G (p.Asn33Lys)
c.186T>G (p.Asn62Lys)
ClinVar
4g.52029711A>GCA439274231SGCBc.396T>C (p.Asn132=)
c.479T>C
c.473T>C (n.473T>C)
c.99T>C (p.Asn33=)
c.186T>C (p.Asn62=)
4g.52029711A>TCA356877195SGCBc.396T>A (p.Asn132Lys)
c.479T>A
c.473T>A (n.473T>A)
c.99T>A (p.Asn33Lys)
c.186T>A (p.Asn62Lys)
4g.52029712T>ACA356877196SGCBc.395A>T (p.Asn132Ile)
c.478A>T
c.472A>T (n.472A>T)
c.98A>T (p.Asn33Ile)
c.185A>T (p.Asn62Ile)
4g.52029712T>CCA356877197SGCBc.395A>G (p.Asn132Ser)
c.478A>G
c.472A>G (n.472A>G)
c.98A>G (p.Asn33Ser)
c.185A>G (p.Asn62Ser)
4g.52029712T>GCA356877198SGCBc.395A>C (p.Asn132Thr)
c.478A>C
c.472A>C (n.472A>C)
c.98A>C (p.Asn33Thr)
c.185A>C (p.Asn62Thr)
4g.52029713T>ACA356877199SGCBc.394A>T (p.Asn132Tyr)
c.477A>T
c.471A>T (n.471A>T)
c.97A>T (p.Asn33Tyr)
c.184A>T (p.Asn62Tyr)
4g.52029713T>CCA356877201SGCBc.394A>G (p.Asn132Asp)
c.477A>G
c.471A>G (n.471A>G)
c.97A>G (p.Asn33Asp)
c.184A>G (p.Asn62Asp)
4g.52029713T>GCA356877200SGCBc.394A>C (p.Asn132His)
c.477A>C
c.471A>C (n.471A>C)
c.97A>C (p.Asn33His)
c.184A>C (p.Asn62His)
4g.52029714T>ACA439274234SGCBc.393A>T (p.Arg131=)
c.476A>T
c.470A>T (n.470A>T)
c.96A>T (p.Arg32=)
c.183A>T (p.Arg61=)
4g.52029714T>CCA439274235SGCBc.393A>G (p.Arg131=)
c.476A>G
c.470A>G (n.470A>G)
c.96A>G (p.Arg32=)
c.183A>G (p.Arg61=)
4g.52029714T>GCA439274236SGCBc.393A>C (p.Arg131=)
c.476A>C
c.470A>C (n.470A>C)
c.96A>C (p.Arg32=)
c.183A>C (p.Arg61=)
4g.52029715C>ACA356877202SGCBc.392G>T (p.Arg131Leu)
c.475G>T
c.469G>T (n.469G>T)
c.95G>T (p.Arg32Leu)
c.182G>T (p.Arg61Leu)
dbSNP gnomAD v3 gnomAD v4
4g.52029715C=CA1457429961SGCBc.392G= (p.Arg131=)
c.475G=
c.469G= (n.469G=)
c.95G= (p.Arg32=)
c.182G= (p.Arg61=)
4g.52029715C>GCA356877203SGCBc.392G>C (p.Arg131Pro)
c.475G>C
c.469G>C (n.469G>C)
c.95G>C (p.Arg32Pro)
c.182G>C (p.Arg61Pro)
4g.52029715C>TCA2918418SGCBc.392G>A (p.Arg131Gln)
c.475G>A
c.469G>A (n.469G>A)
c.95G>A (p.Arg32Gln)
c.182G>A (p.Arg61Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029716G>ACA96782984SGCBc.391C>T (p.Arg131Ter)
c.474C>T
c.468C>T (n.468C>T)
c.94C>T (p.Arg32Ter)
c.181C>T (p.Arg61Ter)
ClinVar dbSNP gnomAD v4 COSMIC
4g.52029716G>CCA356877204SGCBc.391C>G (p.Arg131Gly)
c.474C>G
c.468C>G (n.468C>G)
c.94C>G (p.Arg32Gly)
c.181C>G (p.Arg61Gly)
4g.52029716G=CA1457429962SGCBc.391C= (p.Arg131=)
c.474C=
c.468C= (n.468C=)
c.94C= (p.Arg32=)
c.181C= (p.Arg61=)
4g.52029716G>TCA439274240SGCBc.391C>A (p.Arg131=)
c.474C>A
c.468C>A (n.468C>A)
c.94C>A (p.Arg32=)
c.181C>A (p.Arg61=)
4g.52029717C>ACA356877205SGCBc.390G>T (p.Arg130Ser)
c.473G>T
c.467G>T (n.467G>T)
c.93G>T (p.Arg31Ser)
c.180G>T (p.Arg60Ser)
4g.52029717C=CA1457429963SGCBc.390G= (p.Arg130=)
c.473G=
c.467G= (n.467G=)
c.93G= (p.Arg31=)
c.180G= (p.Arg60=)
4g.52029717C>GCA356877206SGCBc.390G>C (p.Arg130Ser)
c.473G>C
c.467G>C (n.467G>C)
c.93G>C (p.Arg31Ser)
c.180G>C (p.Arg60Ser)
gnomAD v4
4g.52029717C>TCA2918419SGCBc.390G>A (p.Arg130=)
c.473G>A
c.467G>A (n.467G>A)
c.93G>A (p.Arg31=)
c.180G>A (p.Arg60=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029718C>ACA356877207SGCBc.389G>T (p.Arg130Met)
c.472G>T
c.466G>T (n.466G>T)
c.92G>T (p.Arg31Met)
c.179G>T (p.Arg60Met)
4g.52029718C>GCA356877208SGCBc.389G>C (p.Arg130Thr)
c.472G>C
c.466G>C (n.466G>C)
c.92G>C (p.Arg31Thr)
c.179G>C (p.Arg60Thr)
4g.52029718C>TCA356877209SGCBc.389G>A (p.Arg130Lys)
c.472G>A
c.466G>A (n.466G>A)
c.92G>A (p.Arg31Lys)
c.179G>A (p.Arg60Lys)
4g.52029719T>ACA356877210SGCBc.388A>T (p.Arg130Trp)
c.471A>T
c.465A>T (n.465A>T)
c.91A>T (p.Arg31Trp)
c.178A>T (p.Arg60Trp)
gnomAD v4
4g.52029719T>CCA356877211SGCBc.388A>G (p.Arg130Gly)
c.471A>G
c.465A>G (n.465A>G)
c.91A>G (p.Arg31Gly)
c.178A>G (p.Arg60Gly)
4g.52029719T>GCA439274243SGCBc.388A>C (p.Arg130=)
c.471A>C
c.465A>C (n.465A>C)
c.91A>C (p.Arg31=)
c.178A>C (p.Arg60=)
4g.52029720T>ACA439274244SGCBc.387A>T (p.Gly129=)
c.470A>T
c.464A>T (n.464A>T)
c.90A>T (p.Gly30=)
c.177A>T (p.Gly59=)
4g.52029720T>CCA439274246SGCBc.387A>G (p.Gly129=)
c.470A>G
c.464A>G (n.464A>G)
c.90A>G (p.Gly30=)
c.177A>G (p.Gly59=)
4g.52029720T>GCA439274248SGCBc.387A>C (p.Gly129=)
c.470A>C
c.464A>C (n.464A>C)
c.90A>C (p.Gly30=)
c.177A>C (p.Gly59=)
4g.52029721C>ACA356877212SGCBc.386G>T (p.Gly129Val)
c.469G>T
c.463G>T (n.463G>T)
c.89G>T (p.Gly30Val)
c.176G>T (p.Gly59Val)
4g.52029721C>GCA356877213SGCBc.386G>C (p.Gly129Ala)
c.469G>C
c.463G>C (n.463G>C)
c.89G>C (p.Gly30Ala)
c.176G>C (p.Gly59Ala)
4g.52029721C>TCA356877214SGCBc.386G>A (p.Gly129Glu)
c.469G>A
c.463G>A (n.463G>A)
c.89G>A (p.Gly30Glu)
c.176G>A (p.Gly59Glu)
gnomAD v4
4g.52029722C>ACA356877215SGCBc.385G>T (p.Gly129Ter)
c.468G>T
c.462G>T (n.462G>T)
c.88G>T (p.Gly30Ter)
c.175G>T (p.Gly59Ter)
gnomAD v4
4g.52029722C=CA1457429964SGCBc.385G= (p.Gly129=)
c.468G=
c.462G= (n.462G=)
c.88G= (p.Gly30=)
c.175G= (p.Gly59=)
4g.52029722C>GCA356877216SGCBc.385G>C (p.Gly129Arg)
c.468G>C
c.462G>C (n.462G>C)
c.88G>C (p.Gly30Arg)
c.175G>C (p.Gly59Arg)
4g.52029722C>TCA356877217SGCBc.385G>A (p.Gly129Arg)
c.468G>A
c.462G>A (n.462G>A)
c.88G>A (p.Gly30Arg)
c.175G>A (p.Gly59Arg)
4g.52029723T>ACA439274252SGCBc.384A>T (p.Gly128=)
c.467A>T
c.461A>T (n.461A>T)
c.87A>T (p.Gly29=)
c.174A>T (p.Gly58=)
4g.52029723T>CCA439274253SGCBc.384A>G (p.Gly128=)
c.467A>G
c.461A>G (n.461A>G)
c.87A>G (p.Gly29=)
c.174A>G (p.Gly58=)
4g.52029723T>GCA439274254SGCBc.384A>C (p.Gly128=)
c.467A>C
c.461A>C (n.461A>C)
c.87A>C (p.Gly29=)
c.174A>C (p.Gly58=)
4g.52029724_52029731dupCA2918420SGCBc.377_384dup (p.Gly129GlnfsTer2)
c.460_467dup
c.454_461dup (n.454_461dup)
c.80_87dup (p.Gly30GlnfsTer2)
c.167_174dup (p.Gly59GlnfsTer2)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029724C>ACA356877218SGCBc.383G>T (p.Gly128Val)
c.466G>T
c.460G>T (n.460G>T)
c.86G>T (p.Gly29Val)
c.173G>T (p.Gly58Val)
4g.52029724C=CA1457429965SGCBc.383G= (p.Gly128=)
c.466G=
c.460G= (n.460G=)
c.86G= (p.Gly29=)
c.173G= (p.Gly58=)
4g.52029724C>GCA356877219SGCBc.383G>C (p.Gly128Ala)
c.466G>C
c.460G>C (n.460G>C)
c.86G>C (p.Gly29Ala)
c.173G>C (p.Gly58Ala)
4g.52029724C>TCA356877220SGCBc.383G>A (p.Gly128Glu)
c.466G>A
c.460G>A (n.460G>A)
c.86G>A (p.Gly29Glu)
c.173G>A (p.Gly58Glu)
dbSNP gnomAD v2 gnomAD v4
4g.52029725C>ACA356877221SGCBc.382G>T (p.Gly128Ter)
c.465G>T
c.459G>T (n.459G>T)
c.85G>T (p.Gly29Ter)
c.172G>T (p.Gly58Ter)
4g.52029725C=CA1457429966SGCBc.382G= (p.Gly128=)
c.465G=
c.459G= (n.459G=)
c.85G= (p.Gly29=)
c.172G= (p.Gly58=)
4g.52029725C>GCA356877222SGCBc.382G>C (p.Gly128Arg)
c.465G>C
c.459G>C (n.459G>C)
c.85G>C (p.Gly29Arg)
c.172G>C (p.Gly58Arg)
4g.52029725C>TCA96783014SGCBc.382G>A (p.Gly128Arg)
c.465G>A
c.459G>A (n.459G>A)
c.85G>A (p.Gly29Arg)
c.172G>A (p.Gly58Arg)
dbSNP
4g.52029726T>ACA439274259SGCBc.381A>T (p.Val127=)
c.464A>T
c.458A>T (n.458A>T)
c.84A>T (p.Val28=)
c.171A>T (p.Val57=)
4g.52029726T>CCA439274261SGCBc.381A>G (p.Val127=)
c.464A>G
c.458A>G (n.458A>G)
c.84A>G (p.Val28=)
c.171A>G (p.Val57=)
4g.52029726T>GCA439274260SGCBc.381A>C (p.Val127=)
c.464A>C
c.458A>C (n.458A>C)
c.84A>C (p.Val28=)
c.171A>C (p.Val57=)
4g.52029727A=CA1457429967SGCBc.380T= (p.Val127=)
c.463T=
c.457T= (n.457T=)
c.83T= (p.Val28=)
c.170T= (p.Val57=)
4g.52029727A>CCA356877224SGCBc.380T>G (p.Val127Gly)
c.463T>G
c.457T>G (n.457T>G)
c.83T>G (p.Val28Gly)
c.170T>G (p.Val57Gly)
4g.52029727A>GCA10605418SGCBc.380T>C (p.Val127Ala)
c.463T>C
c.457T>C (n.457T>C)
c.83T>C (p.Val28Ala)
c.170T>C (p.Val57Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.52029727A>TCA356877223SGCBc.380T>A (p.Val127Glu)
c.463T>A
c.457T>A (n.457T>A)
c.83T>A (p.Val28Glu)
c.170T>A (p.Val57Glu)
4g.52029728C>ACA356877225SGCBc.379G>T (p.Val127Leu)
c.462G>T
c.456G>T (n.456G>T)
c.82G>T (p.Val28Leu)
c.169G>T (p.Val57Leu)
4g.52029728C=CA1457429968SGCBc.379G= (p.Val127=)
c.462G=
c.456G= (n.456G=)
c.82G= (p.Val28=)
c.169G= (p.Val57=)
4g.52029728C>GCA96783038SGCBc.379G>C (p.Val127Leu)
c.462G>C
c.456G>C (n.456G>C)
c.82G>C (p.Val28Leu)
c.169G>C (p.Val57Leu)
ClinVar dbSNP gnomAD v4
4g.52029728C>TCA2918421SGCBc.379G>A (p.Val127Ile)
c.462G>A
c.456G>A (n.456G>A)
c.82G>A (p.Val28Ile)
c.169G>A (p.Val57Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029729T>ACA439274262SGCBc.378A>T (p.Thr126=)
c.461A>T
c.455A>T (n.455A>T)
c.81A>T (p.Thr27=)
c.168A>T (p.Thr56=)
4g.52029729T>CCA439274263SGCBc.378A>G (p.Thr126=)
c.461A>G
c.455A>G (n.455A>G)
c.81A>G (p.Thr27=)
c.168A>G (p.Thr56=)
ClinVar gnomAD v4
4g.52029729T>GCA439274265SGCBc.378A>C (p.Thr126=)
c.461A>C
c.455A>C (n.455A>C)
c.81A>C (p.Thr27=)
c.168A>C (p.Thr56=)
4g.52029730G>ACA2918422SGCBc.377C>T (p.Thr126Ile)
c.460C>T
c.454C>T (n.454C>T)
c.80C>T (p.Thr27Ile)
c.167C>T (p.Thr56Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029730G>CCA356877226SGCBc.377C>G (p.Thr126Arg)
c.460C>G
c.454C>G (n.454C>G)
c.80C>G (p.Thr27Arg)
c.167C>G (p.Thr56Arg)
4g.52029730G=CA1457429969SGCBc.377C= (p.Thr126=)
c.460C=
c.454C= (n.454C=)
c.80C= (p.Thr27=)
c.167C= (p.Thr56=)
4g.52029730G>TCA356877227SGCBc.377C>A (p.Thr126Lys)
c.460C>A
c.454C>A (n.454C>A)
c.80C>A (p.Thr27Lys)
c.167C>A (p.Thr56Lys)
4g.52029731T>ACA356877228SGCBc.376A>T (p.Thr126Ser)
c.459A>T
c.453A>T (n.453A>T)
c.79A>T (p.Thr27Ser)
c.166A>T (p.Thr56Ser)
dbSNP gnomAD v2 gnomAD v4
4g.52029731T>CCA96783055SGCBc.376A>G (p.Thr126Ala)
c.459A>G
c.453A>G (n.453A>G)
c.79A>G (p.Thr27Ala)
c.166A>G (p.Thr56Ala)
dbSNP gnomAD v2 gnomAD v4
4g.52029731T>GCA2918423SGCBc.376A>C (p.Thr126Pro)
c.459A>C
c.453A>C (n.453A>C)
c.79A>C (p.Thr27Pro)
c.166A>C (p.Thr56Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029731T=CA1457429970SGCBc.376A= (p.Thr126=)
c.459A=
c.453A= (n.453A=)
c.79A= (p.Thr27=)
c.166A= (p.Thr56=)
4g.52029732G>ACA439274271SGCBc.375C>T (p.Ser125=)
c.458C>T
c.452C>T (n.452C>T)
c.78C>T (p.Ser26=)
c.165C>T (p.Ser55=)
4g.52029732G>CCA356877229SGCBc.375C>G (p.Ser125Arg)
c.458C>G
c.452C>G (n.452C>G)
c.78C>G (p.Ser26Arg)
c.165C>G (p.Ser55Arg)
4g.52029732G>TCA356877230SGCBc.375C>A (p.Ser125Arg)
c.458C>A
c.452C>A (n.452C>A)
c.78C>A (p.Ser26Arg)
c.165C>A (p.Ser55Arg)
4g.52029733delCA2695199381SGCBc.374del (p.Ser125ThrfsTer3)
c.457del
c.451del (n.451del)
c.77del (p.Ser26ThrfsTer3)
c.164del (p.Ser55ThrfsTer3)
ClinVar
4g.52029733C>ACA356877233SGCBc.374G>T (p.Ser125Ile)
c.457G>T
c.451G>T (n.451G>T)
c.77G>T (p.Ser26Ile)
c.164G>T (p.Ser55Ile)
gnomAD v4
4g.52029733C=CA1457429971SGCBc.374G= (p.Ser125=)
c.457G=
c.451G= (n.451G=)
c.77G= (p.Ser26=)
c.164G= (p.Ser55=)
4g.52029733C>GCA356877232SGCBc.374G>C (p.Ser125Thr)
c.457G>C
c.451G>C (n.451G>C)
c.77G>C (p.Ser26Thr)
c.164G>C (p.Ser55Thr)
4g.52029733C>TCA356877231SGCBc.374G>A (p.Ser125Asn)
c.457G>A
c.451G>A (n.451G>A)
c.77G>A (p.Ser26Asn)
c.164G>A (p.Ser55Asn)
ClinVar dbSNP gnomAD v4
4g.52029734T>ACA2918425SGCBc.373A>T (p.Ser125Cys)
c.456A>T
c.450A>T (n.450A>T)
c.76A>T (p.Ser26Cys)
c.163A>T (p.Ser55Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029734T>CCA2918424SGCBc.373A>G (p.Ser125Gly)
c.456A>G
c.450A>G (n.450A>G)
c.76A>G (p.Ser26Gly)
c.163A>G (p.Ser55Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029734T>GCA356877234SGCBc.373A>C (p.Ser125Arg)
c.456A>C
c.450A>C (n.450A>C)
c.76A>C (p.Ser26Arg)
c.163A>C (p.Ser55Arg)
4g.52029734T=CA1457429972SGCBc.373A= (p.Ser125=)
c.456A=
c.450A= (n.450A=)
c.76A= (p.Ser26=)
c.163A= (p.Ser55=)
4g.52029737dupCA2573137897SGCBc.373dup (p.Ser125LysfsTer9)
c.456dup
c.450dup (n.450dup)
c.76dup (p.Ser26LysfsTer9)
c.163dup (p.Ser55LysfsTer9)
ClinVar dbSNP

Number of alleles fetched