Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51916218_51916237dupCA916081673ACVRL1c.961_976+4dup
c.1231_1246+4dup
c.709_724+4dup
n.506_521+4dup
c.1273_1288+4dup
c.236_251+4dup
c.442_457+4dup
 ClinVar dbSNP
12g.51916223C>ACA6573092ACVRL1c.966C>A (p.Thr322=)
c.1236C>A (p.Thr412=)
c.714C>A (p.Thr238=)
n.511C>A
c.1278C>A (p.Thr426=)
c.241C>A
c.447C>A (p.Thr149=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916223C=CA2036237153ACVRL1c.966C= (p.Thr322=)
c.1236C= (p.Thr412=)
c.714C= (p.Thr238=)
n.511C=
c.1278C= (p.Thr426=)
c.241C=
c.447C= (p.Thr149=)
12g.51916223C>GCA479811772ACVRL1c.966C>G (p.Thr322=)
c.1236C>G (p.Thr412=)
c.714C>G (p.Thr238=)
n.511C>G
c.1278C>G (p.Thr426=)
c.241C>G
c.447C>G (p.Thr149=)
12g.51916223C>TCA479811774ACVRL1c.966C>T (p.Thr322=)
c.1236C>T (p.Thr412=)
c.714C>T (p.Thr238=)
n.511C>T
c.1278C>T (p.Thr426=)
c.241C>T
c.447C>T (p.Thr149=)
12g.51916224A=CA2036237156ACVRL1c.967A= (p.Ile323=)
c.1237A= (p.Ile413=)
c.715A= (p.Ile239=)
n.512A=
c.1279A= (p.Ile427=)
c.242A=
c.448A= (p.Ile150=)
12g.51916224A>CCA384903051ACVRL1c.967A>C (p.Ile323Leu)
c.1237A>C (p.Ile413Leu)
c.715A>C (p.Ile239Leu)
n.512A>C
c.1279A>C (p.Ile427Leu)
c.242A>C
c.448A>C (p.Ile150Leu)
12g.51916224A>GCA6573093ACVRL1c.967A>G (p.Ile323Val)
c.1237A>G (p.Ile413Val)
c.715A>G (p.Ile239Val)
n.512A>G
c.1279A>G (p.Ile427Val)
c.242A>G
c.448A>G (p.Ile150Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916224A>TCA384903054ACVRL1c.967A>T (p.Ile323Phe)
c.1237A>T (p.Ile413Phe)
c.715A>T (p.Ile239Phe)
n.512A>T
c.1279A>T (p.Ile427Phe)
c.242A>T
c.448A>T (p.Ile150Phe)
12g.51916225T>ACA384903055ACVRL1c.968T>A (p.Ile323Asn)
c.1238T>A (p.Ile413Asn)
c.716T>A (p.Ile239Asn)
n.513T>A
c.1280T>A (p.Ile427Asn)
c.243T>A
c.449T>A (p.Ile150Asn)
12g.51916225T>CCA384903058ACVRL1c.968T>C (p.Ile323Thr)
c.1238T>C (p.Ile413Thr)
c.716T>C (p.Ile239Thr)
n.513T>C
c.1280T>C (p.Ile427Thr)
c.243T>C
c.449T>C (p.Ile150Thr)
12g.51916225T>GCA384903057ACVRL1c.968T>G (p.Ile323Ser)
c.1238T>G (p.Ile413Ser)
c.716T>G (p.Ile239Ser)
n.513T>G
c.1280T>G (p.Ile427Ser)
c.243T>G
c.449T>G (p.Ile150Ser)
12g.51916226C>ACA479811795ACVRL1c.969C>A (p.Ile323=)
c.1239C>A (p.Ile413=)
c.717C>A (p.Ile239=)
n.514C>A
c.1281C>A (p.Ile427=)
c.244C>A
c.450C>A (p.Ile150=)
12g.51916226C=CA2036237161ACVRL1c.969C= (p.Ile323=)
c.1239C= (p.Ile413=)
c.717C= (p.Ile239=)
n.514C=
c.1281C= (p.Ile427=)
c.244C=
c.450C= (p.Ile150=)
12g.51916226C>GCA384903060ACVRL1c.969C>G (p.Ile323Met)
c.1239C>G (p.Ile413Met)
c.717C>G (p.Ile239Met)
n.514C>G
c.1281C>G (p.Ile427Met)
c.244C>G
c.450C>G (p.Ile150Met)
12g.51916226C>TCA6573094ACVRL1c.969C>T (p.Ile323=)
c.1239C>T (p.Ile413=)
c.717C>T (p.Ile239=)
n.514C>T
c.1281C>T (p.Ile427=)
c.244C>T
c.450C>T (p.Ile150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.51916227G>ACA6573095ACVRL1c.970G>A (p.Val324Met)
c.1240G>A (p.Val414Met)
c.718G>A (p.Val240Met)
n.515G>A
c.1282G>A (p.Val428Met)
c.245G>A
c.451G>A (p.Val151Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51916227G>CCA384903062ACVRL1c.970G>C (p.Val324Leu)
c.1240G>C (p.Val414Leu)
c.718G>C (p.Val240Leu)
n.515G>C
c.1282G>C (p.Val428Leu)
c.245G>C
c.451G>C (p.Val151Leu)
12g.51916227G=CA2036237167ACVRL1c.970G= (p.Val324=)
c.1240G= (p.Val414=)
c.718G= (p.Val240=)
n.515G=
c.1282G= (p.Val428=)
c.245G=
c.451G= (p.Val151=)
12g.51916227G>TCA384903063ACVRL1c.970G>T (p.Val324Leu)
c.1240G>T (p.Val414Leu)
c.718G>T (p.Val240Leu)
n.515G>T
c.1282G>T (p.Val428Leu)
c.245G>T
c.451G>T (p.Val151Leu)
12g.51916228T>ACA384903066ACVRL1c.971T>A (p.Val324Glu)
c.1241T>A (p.Val414Glu)
c.719T>A (p.Val240Glu)
n.516T>A
c.1283T>A (p.Val428Glu)
c.246T>A
c.452T>A (p.Val151Glu)
12g.51916228T>CCA384903067ACVRL1c.971T>C (p.Val324Ala)
c.1241T>C (p.Val414Ala)
c.719T>C (p.Val240Ala)
n.516T>C
c.1283T>C (p.Val428Ala)
c.246T>C
c.452T>C (p.Val151Ala)
12g.51916228T>GCA384903065ACVRL1c.971T>G (p.Val324Gly)
c.1241T>G (p.Val414Gly)
c.719T>G (p.Val240Gly)
n.516T>G
c.1283T>G (p.Val428Gly)
c.246T>G
c.452T>G (p.Val151Gly)
12g.51916229G>ACA479811823ACVRL1c.972G>A (p.Val324=)
c.1242G>A (p.Val414=)
c.720G>A (p.Val240=)
n.517G>A
c.1284G>A (p.Val428=)
c.247G>A
c.453G>A (p.Val151=)
12g.51916229G>CCA479811826ACVRL1c.972G>C (p.Val324=)
c.1242G>C (p.Val414=)
c.720G>C (p.Val240=)
n.517G>C
c.1284G>C (p.Val428=)
c.247G>C
c.453G>C (p.Val151=)
12g.51916229G>TCA479811829ACVRL1c.972G>T (p.Val324=)
c.1242G>T (p.Val414=)
c.720G>T (p.Val240=)
n.517G>T
c.1284G>T (p.Val428=)
c.247G>T
c.453G>T (p.Val151=)
12g.51916230A>CCA384903069ACVRL1c.973A>C (p.Asn325His)
c.1243A>C (p.Asn415His)
c.721A>C (p.Asn241His)
n.518A>C
c.1285A>C (p.Asn429His)
c.248A>C
c.454A>C (p.Asn152His)
12g.51916230A>GCA384903068ACVRL1c.973A>G (p.Asn325Asp)
c.1243A>G (p.Asn415Asp)
c.721A>G (p.Asn241Asp)
n.518A>G
c.1285A>G (p.Asn429Asp)
c.248A>G
c.454A>G (p.Asn152Asp)
12g.51916230A>TCA384903070ACVRL1c.973A>T (p.Asn325Tyr)
c.1243A>T (p.Asn415Tyr)
c.721A>T (p.Asn241Tyr)
n.518A>T
c.1285A>T (p.Asn429Tyr)
c.248A>T
c.454A>T (p.Asn152Tyr)
12g.51916231A=CA2036237173ACVRL1c.974A= (p.Asn325=)
c.1244A= (p.Asn415=)
c.722A= (p.Asn241=)
n.519A=
c.1286A= (p.Asn429=)
c.249A=
c.455A= (p.Asn152=)
12g.51916231A>CCA384903072ACVRL1c.974A>C (p.Asn325Thr)
c.1244A>C (p.Asn415Thr)
c.722A>C (p.Asn241Thr)
n.519A>C
c.1286A>C (p.Asn429Thr)
c.249A>C
c.455A>C (p.Asn152Thr)
12g.51916231A>GCA384903076ACVRL1c.974A>G (p.Asn325Ser)
c.1244A>G (p.Asn415Ser)
c.722A>G (p.Asn241Ser)
n.519A>G
c.1286A>G (p.Asn429Ser)
c.249A>G
c.455A>G (p.Asn152Ser)
 dbSNP
12g.51916231A>TCA384903073ACVRL1c.974A>T (p.Asn325Ile)
c.1244A>T (p.Asn415Ile)
c.722A>T (p.Asn241Ile)
n.519A>T
c.1286A>T (p.Asn429Ile)
c.249A>T
c.455A>T (p.Asn152Ile)
12g.51916232T>ACA384903078ACVRL1c.975T>A (p.Asn325Lys)
c.1245T>A (p.Asn415Lys)
c.723T>A (p.Asn241Lys)
n.520T>A
c.1287T>A (p.Asn429Lys)
c.250T>A
c.456T>A (p.Asn152Lys)
12g.51916232T>CCA479811857ACVRL1c.975T>C (p.Asn325=)
c.1245T>C (p.Asn415=)
c.723T>C (p.Asn241=)
n.520T>C
c.1287T>C (p.Asn429=)
c.250T>C
c.456T>C (p.Asn152=)
12g.51916232T>GCA384903081ACVRL1c.975T>G (p.Asn325Lys)
c.1245T>G (p.Asn415Lys)
c.723T>G (p.Asn241Lys)
n.520T>G
c.1287T>G (p.Asn429Lys)
c.250T>G
c.456T>G (p.Asn152Lys)
12g.51916233G>ACA384903083ACVRL1c.976G>A (p.Gly326Ser)
c.1246G>A (p.Gly416Ser)
c.724G>A (p.Gly242Ser)
n.521G>A
c.1288G>A (p.Gly430Ser)
c.251G>A
c.457G>A (p.Gly153Ser)
 ClinVar dbSNP
12g.51916233G>CCA384903088ACVRL1c.976G>C (p.Gly326Arg)
c.1246G>C (p.Gly416Arg)
c.724G>C (p.Gly242Arg)
n.521G>C
c.1288G>C (p.Gly430Arg)
c.251G>C
c.457G>C (p.Gly153Arg)
12g.51916233G=CA2036237176ACVRL1c.976G= (p.Gly326=)
c.1246G= (p.Gly416=)
c.724G= (p.Gly242=)
n.521G=
c.1288G= (p.Gly430=)
c.251G=
c.457G= (p.Gly153=)
12g.51916233G>TCA384903089ACVRL1c.976G>T (p.Gly326Cys)
c.1246G>T (p.Gly416Cys)
c.724G>T (p.Gly242Cys)
n.521G>T
c.1288G>T (p.Gly430Cys)
c.251G>T
c.457G>T (p.Gly153Cys)
12g.51916234G>ACA384903091ACVRL1c.976+1G>A (n.976+1G>A)
c.1246+1G>A (n.1246+1G>A)
c.724+1G>A (n.724+1G>A)
n.521+1G>A
c.1288+1G>A (n.1288+1G>A)
c.251+1G>A
c.457+1G>A (n.457+1G>A)
 ClinVar dbSNP
12g.51916234G>CCA384903093ACVRL1c.976+1G>C (n.976+1G>C)
c.1246+1G>C (n.1246+1G>C)
c.724+1G>C (n.724+1G>C)
n.521+1G>C
c.1288+1G>C (n.1288+1G>C)
c.251+1G>C
c.457+1G>C (n.457+1G>C)
12g.51916234G=CA2036237182ACVRL1c.976+1G= (n.976+1G=)
c.1246+1G= (n.1246+1G=)
c.724+1G= (n.724+1G=)
n.521+1G=
c.1288+1G= (n.1288+1G=)
c.251+1G=
c.457+1G= (n.457+1G=)
12g.51916234G>TCA384903094ACVRL1c.976+1G>T (n.976+1G>T)
c.1246+1G>T (n.1246+1G>T)
c.724+1G>T (n.724+1G>T)
n.521+1G>T
c.1288+1G>T (n.1288+1G>T)
c.251+1G>T
c.457+1G>T (n.457+1G>T)
12g.51916235T>ACA384903096ACVRL1c.976+2T>A (n.976+2T>A)
c.1246+2T>A (n.1246+2T>A)
c.724+2T>A (n.724+2T>A)
n.521+2T>A
c.1288+2T>A (n.1288+2T>A)
c.251+2T>A
c.457+2T>A (n.457+2T>A)
12g.51916235T>CCA384903098ACVRL1c.976+2T>C (n.976+2T>C)
c.1246+2T>C (n.1246+2T>C)
c.724+2T>C (n.724+2T>C)
n.521+2T>C
c.1288+2T>C (n.1288+2T>C)
c.251+2T>C
c.457+2T>C (n.457+2T>C)
 ClinVar dbSNP
12g.51916235T>GCA384903100ACVRL1c.976+2T>G (n.976+2T>G)
c.1246+2T>G (n.1246+2T>G)
c.724+2T>G (n.724+2T>G)
n.521+2T>G
c.1288+2T>G (n.1288+2T>G)
c.251+2T>G
c.457+2T>G (n.457+2T>G)
12g.51916235T=CA2036237188ACVRL1c.976+2T= (n.976+2T=)
c.1246+2T= (n.1246+2T=)
c.724+2T= (n.724+2T=)
n.521+2T=
c.1288+2T= (n.1288+2T=)
c.251+2T=
c.457+2T= (n.457+2T=)
12g.51916237_51916238delinsAGCA2036237192ACVRL1c.976+4_976+5delinsAG (n.976+4_976+5delinsAG)
c.1246+4_1246+5delinsAG (n.1246+4_1246+5delinsAG)
c.724+4_724+5delinsAG (n.724+4_724+5delinsAG)
n.521+4_521+5delinsAG
c.1288+4_1288+5delinsAG (n.1288+4_1288+5delinsAG)
c.251+4_251+5delinsAG
c.457+4_457+5delinsAG (n.457+4_457+5delinsAG)
12g.51916238G>ACA1139662706ACVRL1c.976+5G>A (n.976+5G>A)
c.1246+5G>A (n.1246+5G>A)
c.724+5G>A (n.724+5G>A)
n.521+5G>A
c.1288+5G>A (n.1288+5G>A)
c.251+5G>A
c.457+5G>A (n.457+5G>A)
 ClinVar dbSNP

Number of alleles fetched