Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51912435G>ACA384896076ACVRL1c.3G>A (p.Met1Ile)
c.-5-35G>A (n.-5-35G>A)
c.-40G>A (n.-40G>A)
 gnomAD v4
12g.51912435G>CCA6572763ACVRL1c.3G>C (p.Met1Ile)
c.-5-35G>C (n.-5-35G>C)
c.-40G>C (n.-40G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51912435G=CA2036266162ACVRL1c.3G= (p.Met1=)
c.-5-35G= (n.-5-35G=)
c.-40G= (n.-40G=)
12g.51912435G>TCA384896078ACVRL1c.3G>T (p.Met1Ile)
c.-5-35G>T (n.-5-35G>T)
c.-40G>T (n.-40G>T)
12g.51912436G>ACA384896102ACVRL1c.4G>A (p.Ala2Thr)
c.-5-34G>A (n.-5-34G>A)
c.-39G>A (n.-39G>A)
12g.51912436G>CCA384896095ACVRL1c.4G>C (p.Ala2Pro)
c.-5-34G>C (n.-5-34G>C)
c.-39G>C (n.-39G>C)
12g.51912436G>TCA384896084ACVRL1c.4G>T (p.Ala2Ser)
c.-5-34G>T (n.-5-34G>T)
c.-39G>T (n.-39G>T)
12g.51912437C>ACA384896109ACVRL1c.5C>A (p.Ala2Asp)
c.-5-33C>A (n.-5-33C>A)
c.-38C>A (n.-38C>A)
12g.51912437C=CA1630855696ACVRL1c.5C= (p.Ala2=)
c.-5-33C= (n.-5-33C=)
c.-38C= (n.-38C=)
12g.51912437C>GCA384896110ACVRL1c.5C>G (p.Ala2Gly)
c.-5-33C>G (n.-5-33C>G)
c.-38C>G (n.-38C>G)
 gnomAD v4
12g.51912437C>TCA289293ACVRL1c.5C>T (p.Ala2Val)
c.-5-33C>T (n.-5-33C>T)
c.-38C>T (n.-38C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51912439C>ACA384896118ACVRL1c.7C>A (p.Leu3Ile)
c.-5-31C>A (n.-5-31C>A)
c.-36C>A (n.-36C>A)
12g.51912439C=CA2036266168ACVRL1c.7C= (p.Leu3=)
c.-5-31C= (n.-5-31C=)
c.-36C= (n.-36C=)
12g.51912439C>GCA384896122ACVRL1c.7C>G (p.Leu3Val)
c.-5-31C>G (n.-5-31C>G)
c.-36C>G (n.-36C>G)
12g.51912439C>TCA6572764ACVRL1c.7C>T (p.Leu3Phe)
c.-5-31C>T (n.-5-31C>T)
c.-36C>T (n.-36C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51912440T>ACA384896130ACVRL1c.8T>A (p.Leu3His)
c.-5-30T>A (n.-5-30T>A)
c.-35T>A (n.-35T>A)
12g.51912440T>CCA384896134ACVRL1c.8T>C (p.Leu3Pro)
c.-5-30T>C (n.-5-30T>C)
c.-35T>C (n.-35T>C)
12g.51912440T>GCA384896139ACVRL1c.8T>G (p.Leu3Arg)
c.-5-30T>G (n.-5-30T>G)
c.-35T>G (n.-35T>G)
12g.51912441T>CCA6572765ACVRL1c.9T>C (p.Leu3=)
c.-5-29T>C (n.-5-29T>C)
c.-34T>C (n.-34T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51912441T=CA2036266172ACVRL1c.9T= (p.Leu3=)
c.-5-29T= (n.-5-29T=)
c.-34T= (n.-34T=)
12g.51912442A>CCA384896143ACVRL1c.10A>C (p.Thr4Pro)
c.-5-28A>C (n.-5-28A>C)
c.-33A>C (n.-33A>C)
 gnomAD v4
12g.51912442A>GCA384896146ACVRL1c.10A>G (p.Thr4Ala)
c.-5-28A>G (n.-5-28A>G)
c.-33A>G (n.-33A>G)
12g.51912442A>TCA384896147ACVRL1c.10A>T (p.Thr4Ser)
c.-5-28A>T (n.-5-28A>T)
c.-33A>T (n.-33A>T)
12g.51912443C>ACA384896155ACVRL1c.11C>A (p.Thr4Asn)
c.-5-27C>A (n.-5-27C>A)
c.-32C>A (n.-32C>A)
12g.51912443C=CA2036266175ACVRL1c.11C= (p.Thr4=)
c.-5-27C= (n.-5-27C=)
c.-32C= (n.-32C=)
12g.51912443C>GCA384896151ACVRL1c.11C>G (p.Thr4Ser)
c.-5-27C>G (n.-5-27C>G)
c.-32C>G (n.-32C>G)
12g.51912443C>TCA6572766ACVRL1c.11C>T (p.Thr4Ile)
c.-5-27C>T (n.-5-27C>T)
c.-32C>T (n.-32C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51912444T>GCA2618855864ACVRL1c.12T>G (p.Thr4=)
c.-5-26T>G (n.-5-26T>G)
c.-31T>G (n.-31T>G)
 gnomAD v4
12g.51912445C>ACA6572768ACVRL1c.13C>A (p.Pro5Thr)
c.-5-25C>A (n.-5-25C>A)
c.-30C>A (n.-30C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51912445C=CA2036266180ACVRL1c.13C= (p.Pro5=)
c.-5-25C= (n.-5-25C=)
c.-30C= (n.-30C=)
12g.51912445C>GCA384896162ACVRL1c.13C>G (p.Pro5Ala)
c.-5-25C>G (n.-5-25C>G)
c.-30C>G (n.-30C>G)
12g.51912445C>TCA6572767ACVRL1c.13C>T (p.Pro5Ser)
c.-5-25C>T (n.-5-25C>T)
c.-30C>T (n.-30C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51912446C>ACA384896166ACVRL1c.14C>A (p.Pro5Gln)
c.-5-24C>A (n.-5-24C>A)
c.-29C>A (n.-29C>A)
 COSMIC
12g.51912446C=CA2036266186ACVRL1c.14C= (p.Pro5=)
c.-5-24C= (n.-5-24C=)
c.-29C= (n.-29C=)
12g.51912446C>GCA384896168ACVRL1c.14C>G (p.Pro5Arg)
c.-5-24C>G (n.-5-24C>G)
c.-29C>G (n.-29C>G)
12g.51912446C>TCA384896170ACVRL1c.14C>T (p.Pro5Leu)
c.-5-24C>T (n.-5-24C>T)
c.-29C>T (n.-29C>T)
 dbSNP gnomAD v4
12g.51912447A=CA2036266188ACVRL1c.15A= (p.Pro5=)
c.-5-23A= (n.-5-23A=)
c.-28A= (n.-28A=)
12g.51912447A>CCA2036266189ACVRL1c.15A>C (p.Pro5=)
c.-5-23A>C (n.-5-23A>C)
c.-28A>C (n.-28A>C)
 dbSNP
12g.51912448C>ACA384896172ACVRL1c.16C>A (p.Pro6Thr)
c.-5-22C>A (n.-5-22C>A)
c.-27C>A (n.-27C>A)
12g.51912448C=CA2036266191ACVRL1c.16C= (p.Pro6=)
c.-5-22C= (n.-5-22C=)
c.-27C= (n.-27C=)
12g.51912448C>GCA384896175ACVRL1c.16C>G (p.Pro6Ala)
c.-5-22C>G (n.-5-22C>G)
c.-27C>G (n.-27C>G)
12g.51912448C>TCA6572769ACVRL1c.16C>T (p.Pro6Ser)
c.-5-22C>T (n.-5-22C>T)
c.-27C>T (n.-27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51912449C>ACA384896187ACVRL1c.17C>A (p.Pro6His)
c.-5-21C>A (n.-5-21C>A)
c.-26C>A (n.-26C>A)
12g.51912449C=CA2036266194ACVRL1c.17C= (p.Pro6=)
c.-5-21C= (n.-5-21C=)
c.-26C= (n.-26C=)
12g.51912449C>GCA384896188ACVRL1c.17C>G (p.Pro6Arg)
c.-5-21C>G (n.-5-21C>G)
c.-26C>G (n.-26C>G)
12g.51912449C>TCA384896189ACVRL1c.17C>T (p.Pro6Leu)
c.-5-21C>T (n.-5-21C>T)
c.-26C>T (n.-26C>T)
 dbSNP
12g.51912451C>ACA384896193ACVRL1c.19C>A (p.Leu7Ile)
c.-5-19C>A (n.-5-19C>A)
c.-24C>A (n.-24C>A)
12g.51912451C>GCA384896192ACVRL1c.19C>G (p.Leu7Val)
c.-5-19C>G (n.-5-19C>G)
c.-24C>G (n.-24C>G)
12g.51912451C>TCA384896191ACVRL1c.19C>T (p.Leu7Phe)
c.-5-19C>T (n.-5-19C>T)
c.-24C>T (n.-24C>T)
12g.51912452T>ACA384896198ACVRL1c.20T>A (p.Leu7His)
c.-5-18T>A (n.-5-18T>A)
c.-23T>A (n.-23T>A)
12g.51912452T>CCA384896195ACVRL1c.20T>C (p.Leu7Pro)
c.-5-18T>C (n.-5-18T>C)
c.-23T>C (n.-23T>C)
12g.51912452T>GCA384896197ACVRL1c.20T>G (p.Leu7Arg)
c.-5-18T>G (n.-5-18T>G)
c.-23T>G (n.-23T>G)
12g.51912453C=CA2036266197ACVRL1c.21C= (p.Leu7=)
c.-5-17C= (n.-5-17C=)
c.-22C= (n.-22C=)
12g.51912453C>TCA6572770ACVRL1c.21C>T (p.Leu7=)
c.-5-17C>T (n.-5-17C>T)
c.-22C>T (n.-22C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51912454T>ACA384896211ACVRL1c.22T>A (p.Leu8Met)
c.-5-16T>A (n.-5-16T>A)
c.-21T>A (n.-21T>A)
12g.51912454T>GCA384896213ACVRL1c.22T>G (p.Leu8Val)
c.-5-16T>G (n.-5-16T>G)
c.-21T>G (n.-21T>G)
12g.51912455T>ACA384896224ACVRL1c.23T>A (p.Leu8Ter)
c.-5-15T>A (n.-5-15T>A)
c.-20T>A (n.-20T>A)
12g.51912455T>CCA384896222ACVRL1c.23T>C (p.Leu8Ser)
c.-5-15T>C (n.-5-15T>C)
c.-20T>C (n.-20T>C)
12g.51912455T>GCA384896215ACVRL1c.23T>G (p.Leu8Trp)
c.-5-15T>G (n.-5-15T>G)
c.-20T>G (n.-20T>G)
12g.51912456G>CCA384896226ACVRL1c.24G>C (p.Leu8Phe)
c.-5-14G>C (n.-5-14G>C)
c.-19G>C (n.-19G>C)
 gnomAD v4
12g.51912456G>TCA384896237ACVRL1c.24G>T (p.Leu8Phe)
c.-5-14G>T (n.-5-14G>T)
c.-19G>T (n.-19G>T)
12g.51912456_51912457delinsGCCA2036266199ACVRL1c.24_25delinsGC (p.Leu8=)
c.-5-14_-5-13delinsGC (n.-5-14_-5-13delinsGC)
c.-19_-18delinsGC (n.-19_-18delinsGC)
12g.51912456_51912460delCA2618855882ACVRL1c.24_28del (p.Leu8PhefsTer?)
c.-5-14_-5-10del (n.-5-14_-5-10del)
c.-19_-15del (n.-19_-15del)
 gnomAD v4
12g.51912457delCA6572771ACVRL1c.25del (p.Leu9SerfsTer7)
c.-5-13del (n.-5-13del)
c.-18del (n.-18del)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.51912457C>ACA384896239ACVRL1c.25C>A (p.Leu9Ile)
c.-5-13C>A (n.-5-13C>A)
c.-18C>A (n.-18C>A)
12g.51912457C>GCA384896242ACVRL1c.25C>G (p.Leu9Val)
c.-5-13C>G (n.-5-13C>G)
c.-18C>G (n.-18C>G)
12g.51912457C>TCA384896247ACVRL1c.25C>T (p.Leu9Phe)
c.-5-13C>T (n.-5-13C>T)
c.-18C>T (n.-18C>T)
12g.51912458T>ACA384896256ACVRL1c.26T>A (p.Leu9His)
c.-5-12T>A (n.-5-12T>A)
c.-17T>A (n.-17T>A)
 gnomAD v4
12g.51912458T>CCA384896251ACVRL1c.26T>C (p.Leu9Pro)
c.-5-12T>C (n.-5-12T>C)
c.-17T>C (n.-17T>C)
 gnomAD v4
12g.51912458T>GCA6572772ACVRL1c.26T>G (p.Leu9Arg)
c.-5-12T>G (n.-5-12T>G)
c.-17T>G (n.-17T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51912458T=CA2036266204ACVRL1c.26T= (p.Leu9=)
c.-5-12T= (n.-5-12T=)
c.-17T= (n.-17T=)
12g.51912459C>TCA2575161268ACVRL1c.27C>T (p.Leu9=)
c.-5-11C>T (n.-5-11C>T)
c.-16C>T (n.-16C>T)
 gnomAD v4
12g.51912460C>ACA384896260ACVRL1c.28C>A (p.Leu10Ile)
c.-5-10C>A (n.-5-10C>A)
c.-15C>A (n.-15C>A)
12g.51912460C=CA2036266210ACVRL1c.28C= (p.Leu10=)
c.-5-10C= (n.-5-10C=)
c.-15C= (n.-15C=)
12g.51912460C>GCA384896261ACVRL1c.28C>G (p.Leu10Val)
c.-5-10C>G (n.-5-10C>G)
c.-15C>G (n.-15C>G)
12g.51912460C>TCA6572773ACVRL1c.28C>T (p.Leu10Phe)
c.-5-10C>T (n.-5-10C>T)
c.-15C>T (n.-15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51912461T>ACA384896267ACVRL1c.29T>A (p.Leu10His)
c.-5-9T>A (n.-5-9T>A)
c.-14T>A (n.-14T>A)
12g.51912461T>CCA384896270ACVRL1c.29T>C (p.Leu10Pro)
c.-5-9T>C (n.-5-9T>C)
c.-14T>C (n.-14T>C)
12g.51912461T>GCA384896274ACVRL1c.29T>G (p.Leu10Arg)
c.-5-9T>G (n.-5-9T>G)
c.-14T>G (n.-14T>G)
12g.51912462C=CA2036266213ACVRL1c.30C= (p.Leu10=)
c.-5-8C= (n.-5-8C=)
c.-13C= (n.-13C=)
12g.51912462C>TCA2036266214ACVRL1c.30C>T (p.Leu10=)
c.-5-8C>T (n.-5-8C>T)
c.-13C>T (n.-13C>T)
 dbSNP gnomAD v4
12g.51912463T>ACA384896277ACVRL1c.31T>A (p.Ser11Thr)
c.-5-7T>A (n.-5-7T>A)
c.-12T>A (n.-12T>A)
12g.51912463T>CCA384896280ACVRL1c.31T>C (p.Ser11Pro)
c.-5-7T>C (n.-5-7T>C)
c.-12T>C (n.-12T>C)
 gnomAD v4
12g.51912463T>GCA6572774ACVRL1c.31T>G (p.Ser11Ala)
c.-5-7T>G (n.-5-7T>G)
c.-12T>G (n.-12T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51912463T=CA2036266219ACVRL1c.31T= (p.Ser11=)
c.-5-7T= (n.-5-7T=)
c.-12T= (n.-12T=)
12g.51912464C>ACA384896284ACVRL1c.32C>A (p.Ser11Tyr)
c.-5-6C>A (n.-5-6C>A)
c.-11C>A (n.-11C>A)
12g.51912464C>GCA384896285ACVRL1c.32C>G (p.Ser11Cys)
c.-5-6C>G (n.-5-6C>G)
c.-11C>G (n.-11C>G)
12g.51912464C>TCA384896286ACVRL1c.32C>T (p.Ser11Phe)
c.-5-6C>T (n.-5-6C>T)
c.-11C>T (n.-11C>T)
12g.51912465T>CCA6572775ACVRL1c.33T>C (p.Ser11=)
c.-5-5T>C (n.-5-5T>C)
c.-10T>C (n.-10T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51912465T=CA2036266222ACVRL1c.33T= (p.Ser11=)
c.-5-5T= (n.-5-5T=)
c.-10T= (n.-10T=)
12g.51912466G>ACA384896288ACVRL1c.34G>A (p.Ala12Thr)
c.-5-4G>A (n.-5-4G>A)
c.-9G>A (n.-9G>A)
 gnomAD v4
12g.51912466G>CCA384896291ACVRL1c.34G>C (p.Ala12Pro)
c.-5-4G>C (n.-5-4G>C)
c.-9G>C (n.-9G>C)
12g.51912466G>TCA384896290ACVRL1c.34G>T (p.Ala12Ser)
c.-5-4G>T (n.-5-4G>T)
c.-9G>T (n.-9G>T)
12g.51912467C>ACA384896292ACVRL1c.35C>A (p.Ala12Glu)
c.-5-3C>A (n.-5-3C>A)
c.-8C>A (n.-8C>A)
12g.51912467C>GCA384896293ACVRL1c.35C>G (p.Ala12Gly)
c.-5-3C>G (n.-5-3C>G)
c.-8C>G (n.-8C>G)
12g.51912467C>TCA384896294ACVRL1c.35C>T (p.Ala12Val)
c.-5-3C>T (n.-5-3C>T)
c.-8C>T (n.-8C>T)
12g.51912469G>ACA384896295ACVRL1c.37G>A (p.Gly13Arg)
c.-5-1G>A (n.-5-1G>A)
c.-6G>A (n.-6G>A)
12g.51912469G>CCA384896298ACVRL1c.37G>C (p.Gly13Arg)
c.-5-1G>C (n.-5-1G>C)
c.-6G>C (n.-6G>C)
12g.51912469G>TCA384896302ACVRL1c.37G>T (p.Gly13Trp)
c.-5-1G>T (n.-5-1G>T)
c.-6G>T (n.-6G>T)
12g.51912470G>ACA384896305ACVRL1c.38G>A (p.Gly13Glu)
c.-5G>A (n.-5G>A)
 dbSNP
12g.51912470G>CCA384896309ACVRL1c.38G>C (p.Gly13Ala)
c.-5G>C (n.-5G>C)
12g.51912470G=CA2036266225ACVRL1c.38G= (p.Gly13=)
c.-5G= (n.-5G=)
12g.51912470G>TCA384896312ACVRL1c.38G>T (p.Gly13Val)
c.-5G>T (n.-5G>T)
12g.51912471G=CA2036266232ACVRL1c.39G= (p.Gly13=)
c.-4G= (n.-4G=)
12g.51912471G>TCA6572776ACVRL1c.39G>T (p.Gly13=)
c.-4G>T (n.-4G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51912472A>CCA384896320ACVRL1c.40A>C (p.Thr14Pro)
c.-3A>C (n.-3A>C)
12g.51912472A>GCA384896321ACVRL1c.40A>G (p.Thr14Ala)
c.-3A>G (n.-3A>G)
12g.51912472A>TCA384896324ACVRL1c.40A>T (p.Thr14Ser)
c.-3A>T (n.-3A>T)
 gnomAD v4
12g.51912473C>ACA384896335ACVRL1c.41C>A (p.Thr14Asn)
c.-2C>A (n.-2C>A)
12g.51912473C>GCA384896326ACVRL1c.41C>G (p.Thr14Ser)
c.-2C>G (n.-2C>G)
12g.51912473C>TCA384896329ACVRL1c.41C>T (p.Thr14Ile)
c.-2C>T (n.-2C>T)
12g.51912475A>CCA384896338ACVRL1c.43A>C (p.Met15Leu)
c.1A>C (p.Met1Leu)
12g.51912475A>GCA384896340ACVRL1c.43A>G (p.Met15Val)
c.1A>G (p.Met1Val)
12g.51912475A>TCA384896343ACVRL1c.43A>T (p.Met15Leu)
c.1A>T (p.Met1Leu)
12g.51912476T>ACA384896347ACVRL1c.44T>A (p.Met15Lys)
c.2T>A (p.Met1Lys)
12g.51912476T>CCA384896351ACVRL1c.44T>C (p.Met15Thr)
c.2T>C (p.Met1Thr)
 gnomAD v4
12g.51912476T>GCA384896352ACVRL1c.44T>G (p.Met15Arg)
c.2T>G (p.Met1Arg)
12g.51912477G>ACA384896354ACVRL1c.45G>A (p.Met15Ile)
c.3G>A (p.Met1Ile)
12g.51912477G>CCA384896356ACVRL1c.45G>C (p.Met15Ile)
c.3G>C (p.Met1Ile)
12g.51912477G>TCA384896357ACVRL1c.45G>T (p.Met15Ile)
c.3G>T (p.Met1Ile)
12g.51912478A>CCA384896360ACVRL1c.46A>C (p.Thr16Pro)
c.4A>C (p.Thr2Pro)
12g.51912478A>GCA384896368ACVRL1c.46A>G (p.Thr16Ala)
c.4A>G (p.Thr2Ala)
12g.51912478A>TCA384896369ACVRL1c.46A>T (p.Thr16Ser)
c.4A>T (p.Thr2Ser)
12g.51912479C>ACA384896371ACVRL1c.47C>A (p.Thr16Asn)
c.5C>A (p.Thr2Asn)
12g.51912479C=CA2036266238ACVRL1c.47C= (p.Thr16=)
c.5C= (p.Thr2=)
12g.51912479C>GCA384896373ACVRL1c.47C>G (p.Thr16Ser)
c.5C>G (p.Thr2Ser)
12g.51912479C>TCA6572777ACVRL1c.47C>T (p.Thr16Ile)
c.5C>T (p.Thr2Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51912480C>ACA479804292ACVRL1c.48C>A (p.Thr16=)
c.6C>A (p.Thr2=)
12g.51912480C=CA2036266243ACVRL1c.48C= (p.Thr16=)
c.6C= (p.Thr2=)
12g.51912480C>GCA479804293ACVRL1c.48C>G (p.Thr16=)
c.6C>G (p.Thr2=)
12g.51912480C>TCA479804294ACVRL1c.48C>T (p.Thr16=)
c.6C>T (p.Thr2=)
 dbSNP gnomAD v3 gnomAD v4
12g.51912481T>ACA384896376ACVRL1c.49T>A (p.Leu17Met)
c.7T>A (p.Leu3Met)
12g.51912481T>CCA479804295ACVRL1c.49T>C (p.Leu17=)
c.7T>C (p.Leu3=)
 gnomAD v4
12g.51912481T>GCA384896377ACVRL1c.49T>G (p.Leu17Val)
c.7T>G (p.Leu3Val)
12g.51912482T>ACA384896381ACVRL1c.50T>A (p.Leu17Ter)
c.8T>A (p.Leu3Ter)
12g.51912482T>CCA384896384ACVRL1c.50T>C (p.Leu17Ser)
c.8T>C (p.Leu3Ser)
12g.51912482T>GCA384896387ACVRL1c.50T>G (p.Leu17Trp)
c.8T>G (p.Leu3Trp)
12g.51912483G>ACA6572778ACVRL1c.51G>A (p.Leu17=)
c.9G>A (p.Leu3=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51912483G>CCA384896393ACVRL1c.51G>C (p.Leu17Phe)
c.9G>C (p.Leu3Phe)
12g.51912483G=CA2036266249ACVRL1c.51G= (p.Leu17=)
c.9G= (p.Leu3=)
12g.51912483G>TCA6572779ACVRL1c.51G>T (p.Leu17Phe)
c.9G>T (p.Leu3Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51912485delCA2695216658ACVRL1c.53del (p.Gly18AlafsTer8)
c.11del (p.Gly4AlafsTer8)
12g.51912484G>ACA384896397ACVRL1c.52G>A (p.Gly18Ser)
c.10G>A (p.Gly4Ser)
12g.51912484G>CCA384896399ACVRL1c.52G>C (p.Gly18Arg)
c.10G>C (p.Gly4Arg)
12g.51912484G>TCA384896402ACVRL1c.52G>T (p.Gly18Cys)
c.10G>T (p.Gly4Cys)
12g.51912485G>ACA384896403ACVRL1c.53G>A (p.Gly18Asp)
c.11G>A (p.Gly4Asp)
 COSMIC COSMIC
12g.51912485G>CCA384896404ACVRL1c.53G>C (p.Gly18Ala)
c.11G>C (p.Gly4Ala)
12g.51912485G>TCA384896405ACVRL1c.53G>T (p.Gly18Val)
c.11G>T (p.Gly4Val)
12g.51912486C>ACA479804302ACVRL1c.54C>A (p.Gly18=)
c.12C>A (p.Gly4=)
 gnomAD v4
12g.51912486C=CA2036266254ACVRL1c.54C= (p.Gly18=)
c.12C= (p.Gly4=)
12g.51912486C>GCA479804303ACVRL1c.54C>G (p.Gly18=)
c.12C>G (p.Gly4=)
 dbSNP gnomAD v2 gnomAD v4
12g.51912486C>TCA479804304ACVRL1c.54C>T (p.Gly18=)
c.12C>T (p.Gly4=)
 dbSNP
12g.51912487T>ACA384896410ACVRL1c.55T>A (p.Ser19Thr)
c.13T>A (p.Ser5Thr)
12g.51912487T>CCA384896408ACVRL1c.55T>C (p.Ser19Pro)
c.13T>C (p.Ser5Pro)
12g.51912487T>GCA384896406ACVRL1c.55T>G (p.Ser19Ala)
c.13T>G (p.Ser5Ala)
12g.51912488C>ACA384896411ACVRL1c.56C>A (p.Ser19Tyr)
c.14C>A (p.Ser5Tyr)
12g.51912488C>GCA384896413ACVRL1c.56C>G (p.Ser19Cys)
c.14C>G (p.Ser5Cys)
12g.51912488C>TCA384896416ACVRL1c.56C>T (p.Ser19Phe)
c.14C>T (p.Ser5Phe)
 gnomAD v4
12g.51912492dupCA2580086416ACVRL1c.60dup (p.Arg21GlnfsTer?)
c.18dup (p.Arg7GlnfsTer?)
c.60dup (p.Arg21GlnfsTer30)
 ClinVar
12g.51912492delCA479804306ACVRL1c.60del (p.Arg21GlyfsTer5)
c.18del (p.Arg7GlyfsTer5)
 COSMIC COSMIC COSMIC
12g.51912489C>ACA479804307ACVRL1c.57C>A (p.Ser19=)
c.15C>A (p.Ser5=)
12g.51912489C=CA2036266258ACVRL1c.57C= (p.Ser19=)
c.15C= (p.Ser5=)
12g.51912489C>GCA479804308ACVRL1c.57C>G (p.Ser19=)
c.15C>G (p.Ser5=)
12g.51912489C>TCA6572780ACVRL1c.57C>T (p.Ser19=)
c.15C>T (p.Ser5=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51912490C>ACA384896421ACVRL1c.58C>A (p.Pro20Thr)
c.16C>A (p.Pro6Thr)
12g.51912490C>GCA384896423ACVRL1c.58C>G (p.Pro20Ala)
c.16C>G (p.Pro6Ala)
12g.51912490C>TCA384896424ACVRL1c.58C>T (p.Pro20Ser)
c.16C>T (p.Pro6Ser)
12g.51912491C>ACA384896426ACVRL1c.59C>A (p.Pro20His)
c.17C>A (p.Pro6His)
12g.51912491C=CA2036266261ACVRL1c.59C= (p.Pro20=)
c.17C= (p.Pro6=)
12g.51912491C>GCA384896428ACVRL1c.59C>G (p.Pro20Arg)
c.17C>G (p.Pro6Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.51912491C>TCA384896430ACVRL1c.59C>T (p.Pro20Leu)
c.17C>T (p.Pro6Leu)
12g.51912492C>ACA479804310ACVRL1c.60C>A (p.Pro20=)
c.18C>A (p.Pro6=)
12g.51912492C=CA2036266265ACVRL1c.60C= (p.Pro20=)
c.18C= (p.Pro6=)
12g.51912492C>GCA6572781ACVRL1c.60C>G (p.Pro20=)
c.18C>G (p.Pro6=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51912492C>TCA6572782ACVRL1c.60C>T (p.Pro20=)
c.18C>T (p.Pro6=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51912493A>CCA479804311ACVRL1c.61A>C (p.Arg21=)
c.19A>C (p.Arg7=)
12g.51912493A>GCA384896437ACVRL1c.61A>G (p.Arg21Gly)
c.19A>G (p.Arg7Gly)
 gnomAD v4
12g.51912493A>TCA384896439ACVRL1c.61A>T (p.Arg21Trp)
c.19A>T (p.Arg7Trp)
12g.51912494G>ACA384896445ACVRL1c.62G>A (p.Arg21Lys)
c.20G>A (p.Arg7Lys)
 dbSNP gnomAD v3 gnomAD v4
12g.51912494G>CCA384896449ACVRL1c.62G>C (p.Arg21Thr)
c.20G>C (p.Arg7Thr)
12g.51912494G=CA2036266269ACVRL1c.62G= (p.Arg21=)
c.20G= (p.Arg7=)
12g.51912494G>TCA384896442ACVRL1c.62G>T (p.Arg21Met)
c.20G>T (p.Arg7Met)
12g.51912495G>ACA479804313ACVRL1c.63G>A (p.Arg21=)
c.21G>A (p.Arg7=)
12g.51912495G>CCA384896452ACVRL1c.63G>C (p.Arg21Ser)
c.21G>C (p.Arg7Ser)
12g.51912495G>TCA384896457ACVRL1c.63G>T (p.Arg21Ser)
c.21G>T (p.Arg7Ser)
12g.51912496A>CCA384896460ACVRL1c.64A>C (p.Lys22Gln)
c.22A>C (p.Lys8Gln)
12g.51912496A>GCA384896466ACVRL1c.64A>G (p.Lys22Glu)
c.22A>G (p.Lys8Glu)
 dbSNP
12g.51912496A>TCA384896468ACVRL1c.64A>T (p.Lys22Ter)
c.22A>T (p.Lys8Ter)
12g.51912497A=CA2036266273ACVRL1c.65A= (p.Lys22=)
c.23A= (p.Lys8=)
12g.51912497A>CCA6572783ACVRL1c.65A>C (p.Lys22Thr)
c.23A>C (p.Lys8Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51912497A>GCA384896471ACVRL1c.65A>G (p.Lys22Arg)
c.23A>G (p.Lys8Arg)
12g.51912497A>TCA384896470ACVRL1c.65A>T (p.Lys22Ile)
c.23A>T (p.Lys8Ile)
12g.51912498A=CA2036266277ACVRL1c.66A= (p.Lys22=)
c.24A= (p.Lys8=)
12g.51912498A>CCA384896475ACVRL1c.66A>C (p.Lys22Asn)
c.24A>C (p.Lys8Asn)
12g.51912498A>GCA6572784ACVRL1c.66A>G (p.Lys22=)
c.24A>G (p.Lys8=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51912498A>TCA384896478ACVRL1c.66A>T (p.Lys22Asn)
c.24A>T (p.Lys8Asn)
12g.51912499G>ACA384896490ACVRL1c.67G>A (p.Gly23Ser)
c.25G>A (p.Gly9Ser)
12g.51912499G>CCA384896493ACVRL1c.67G>C (p.Gly23Arg)
c.25G>C (p.Gly9Arg)
 COSMIC
12g.51912499G>TCA384896500ACVRL1c.67G>T (p.Gly23Cys)
c.25G>T (p.Gly9Cys)
12g.51912505_51912524delCA913185028ACVRL1c.73_92del (p.Leu25GlyfsTer20)
c.31_50del (p.Leu11GlyfsTer20)
c.73_92del (p.Leu25GlyfsTer19)
12g.51912500G>ACA384896504ACVRL1c.68G>A (p.Gly23Asp)
c.26G>A (p.Gly9Asp)
 gnomAD v4
12g.51912500G>CCA384896515ACVRL1c.68G>C (p.Gly23Ala)
c.26G>C (p.Gly9Ala)
12g.51912500G>TCA384896514ACVRL1c.68G>T (p.Gly23Val)
c.26G>T (p.Gly9Val)
 gnomAD v4
12g.51912501C>ACA479804318ACVRL1c.69C>A (p.Gly23=)
c.27C>A (p.Gly9=)
 gnomAD v4
12g.51912501C>GCA479804319ACVRL1c.69C>G (p.Gly23=)
c.27C>G (p.Gly9=)
12g.51912501C>TCA479804321ACVRL1c.69C>T (p.Gly23=)
c.27C>T (p.Gly9=)
12g.51912502C>ACA384896516ACVRL1c.70C>A (p.Leu24Ile)
c.28C>A (p.Leu10Ile)
12g.51912502C>GCA384896517ACVRL1c.70C>G (p.Leu24Val)
c.28C>G (p.Leu10Val)
12g.51912502C>TCA384896519ACVRL1c.70C>T (p.Leu24Phe)
c.28C>T (p.Leu10Phe)
12g.51912503T>ACA384896522ACVRL1c.71T>A (p.Leu24His)
c.29T>A (p.Leu10His)
12g.51912503T>CCA384896526ACVRL1c.71T>C (p.Leu24Pro)
c.29T>C (p.Leu10Pro)
12g.51912503T>GCA384896529ACVRL1c.71T>G (p.Leu24Arg)
c.29T>G (p.Leu10Arg)
12g.51912504T>ACA479804323ACVRL1c.72T>A (p.Leu24=)
c.30T>A (p.Leu10=)
12g.51912504T>CCA479804325ACVRL1c.72T>C (p.Leu24=)
c.30T>C (p.Leu10=)
12g.51912504T>GCA479804327ACVRL1c.72T>G (p.Leu24=)
c.30T>G (p.Leu10=)
12g.51912505C>ACA384896537ACVRL1c.73C>A (p.Leu25Met)
c.31C>A (p.Leu11Met)
12g.51912505C>GCA384896539ACVRL1c.73C>G (p.Leu25Val)
c.31C>G (p.Leu11Val)
12g.51912505C>TCA479804328ACVRL1c.73C>T (p.Leu25=)
c.31C>T (p.Leu11=)
12g.51912506T>ACA384896540ACVRL1c.74T>A (p.Leu25Gln)
c.32T>A (p.Leu11Gln)
12g.51912506T>CCA384896541ACVRL1c.74T>C (p.Leu25Pro)
c.32T>C (p.Leu11Pro)
12g.51912506T>GCA6572785ACVRL1c.74T>G (p.Leu25Arg)
c.32T>G (p.Leu11Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51912506T=CA2036266281ACVRL1c.74T= (p.Leu25=)
c.32T= (p.Leu11=)
12g.51912507G>ACA479804329ACVRL1c.75G>A (p.Leu25=)
c.33G>A (p.Leu11=)
12g.51912507G>CCA479804330ACVRL1c.75G>C (p.Leu25=)
c.33G>C (p.Leu11=)
12g.51912507G>TCA479804331ACVRL1c.75G>T (p.Leu25=)
c.33G>T (p.Leu11=)
12g.51912508A>CCA384896545ACVRL1c.76A>C (p.Met26Leu)
c.34A>C (p.Met12Leu)
12g.51912508A>GCA384896551ACVRL1c.76A>G (p.Met26Val)
c.34A>G (p.Met12Val)
12g.51912508A>TCA384896546ACVRL1c.76A>T (p.Met26Leu)
c.34A>T (p.Met12Leu)
12g.51912509T>ACA384896554ACVRL1c.77T>A (p.Met26Lys)
c.35T>A (p.Met12Lys)
12g.51912509T>CCA384896568ACVRL1c.77T>C (p.Met26Thr)
c.35T>C (p.Met12Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.51912509T>GCA384896566ACVRL1c.77T>G (p.Met26Arg)
c.35T>G (p.Met12Arg)
12g.51912509T=CA2036266284ACVRL1c.77T= (p.Met26=)
c.35T= (p.Met12=)
12g.51912510G>ACA384896570ACVRL1c.78G>A (p.Met26Ile)
c.36G>A (p.Met12Ile)
12g.51912510G>CCA6572786ACVRL1c.78G>C (p.Met26Ile)
c.36G>C (p.Met12Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51912510G=CA2036266289ACVRL1c.78G= (p.Met26=)
c.36G= (p.Met12=)
12g.51912510G>TCA384896574ACVRL1c.78G>T (p.Met26Ile)
c.36G>T (p.Met12Ile)
12g.51912510_51912511delinsGCCA2036266291ACVRL1c.78_79delinsGC (p.Met26=)
c.36_37delinsGC (p.Met12=)
12g.51912511delCA645293883ACVRL1c.79del (p.Leu27CysfsTer2)
c.37del (p.Leu13CysfsTer2)
 ClinVar dbSNP
12g.51912511C>ACA384896576ACVRL1c.79C>A (p.Leu27Met)
c.37C>A (p.Leu13Met)
12g.51912511C>GCA384896579ACVRL1c.79C>G (p.Leu27Val)
c.37C>G (p.Leu13Val)
12g.51912511C>TCA479804336ACVRL1c.79C>T (p.Leu27=)
c.37C>T (p.Leu13=)
12g.51912512T>ACA384896584ACVRL1c.80T>A (p.Leu27Gln)
c.38T>A (p.Leu13Gln)
12g.51912512T>CCA384896589ACVRL1c.80T>C (p.Leu27Pro)
c.38T>C (p.Leu13Pro)
12g.51912512T>GCA384896594ACVRL1c.80T>G (p.Leu27Arg)
c.38T>G (p.Leu13Arg)
12g.51912513G>ACA479804338ACVRL1c.81G>A (p.Leu27=)
c.39G>A (p.Leu13=)
 gnomAD v4
12g.51912513G>CCA479804340ACVRL1c.81G>C (p.Leu27=)
c.39G>C (p.Leu13=)
12g.51912513G>TCA479804342ACVRL1c.81G>T (p.Leu27=)
c.39G>T (p.Leu13=)
12g.51912514C>ACA384896596ACVRL1c.82C>A (p.Leu28Met)
c.40C>A (p.Leu14Met)
12g.51912514C=CA2036266302ACVRL1c.82C= (p.Leu28=)
c.40C= (p.Leu14=)
12g.51912514C>GCA384896600ACVRL1c.82C>G (p.Leu28Val)
c.40C>G (p.Leu14Val)
12g.51912514C>TCA479804343ACVRL1c.82C>T (p.Leu28=)
c.40C>T (p.Leu14=)
 dbSNP gnomAD v4
12g.51912515T>ACA384896605ACVRL1c.83T>A (p.Leu28Gln)
c.41T>A (p.Leu14Gln)
12g.51912515T>CCA384896607ACVRL1c.83T>C (p.Leu28Pro)
c.41T>C (p.Leu14Pro)
12g.51912515T>GCA384896615ACVRL1c.83T>G (p.Leu28Arg)
c.41T>G (p.Leu14Arg)
12g.51912515dupCA16614035ACVRL1c.83dup (p.Met29AspfsTer23)
c.41dup (p.Met15AspfsTer23)
c.83dup (p.Met29AspfsTer22)
 ClinVar dbSNP
12g.51912516G>ACA479804346ACVRL1c.84G>A (p.Leu28=)
c.42G>A (p.Leu14=)
 dbSNP gnomAD v2 gnomAD v4
12g.51912516G>CCA479804345ACVRL1c.84G>C (p.Leu28=)
c.42G>C (p.Leu14=)
 ClinVar
12g.51912516G=CA2036266309ACVRL1c.84G= (p.Leu28=)
c.42G= (p.Leu14=)
12g.51912516G>TCA479804344ACVRL1c.84G>T (p.Leu28=)
c.42G>T (p.Leu14=)
 gnomAD v4
12g.51912517A>CCA384896619ACVRL1c.85A>C (p.Met29Leu)
c.43A>C (p.Met15Leu)
12g.51912517A>GCA384896624ACVRL1c.85A>G (p.Met29Val)
c.43A>G (p.Met15Val)
12g.51912517A>TCA384896622ACVRL1c.85A>T (p.Met29Leu)
c.43A>T (p.Met15Leu)
12g.51912518T>ACA384896626ACVRL1c.86T>A (p.Met29Lys)
c.44T>A (p.Met15Lys)
12g.51912518T>CCA384896630ACVRL1c.86T>C (p.Met29Thr)
c.44T>C (p.Met15Thr)
 gnomAD v4
12g.51912518T>GCA384896634ACVRL1c.86T>G (p.Met29Arg)
c.44T>G (p.Met15Arg)
12g.51912519G>ACA384896637ACVRL1c.87G>A (p.Met29Ile)
c.45G>A (p.Met15Ile)
12g.51912519G>CCA384896639ACVRL1c.87G>C (p.Met29Ile)
c.45G>C (p.Met15Ile)
12g.51912519G>TCA384896643ACVRL1c.87G>T (p.Met29Ile)
c.45G>T (p.Met15Ile)
12g.51912520G>ACA384896653ACVRL1c.88G>A (p.Ala30Thr)
c.46G>A (p.Ala16Thr)
12g.51912520G>CCA384896659ACVRL1c.88G>C (p.Ala30Pro)
c.46G>C (p.Ala16Pro)
12g.51912520G>TCA384896661ACVRL1c.88G>T (p.Ala30Ser)
c.46G>T (p.Ala16Ser)
12g.51912521C>ACA384896669ACVRL1c.89C>A (p.Ala30Asp)
c.47C>A (p.Ala16Asp)
12g.51912521C=CA2036266311ACVRL1c.89C= (p.Ala30=)
c.47C= (p.Ala16=)
12g.51912521C>GCA6572787ACVRL1c.89C>G (p.Ala30Gly)
c.47C>G (p.Ala16Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51912521C>TCA384896664ACVRL1c.89C>T (p.Ala30Val)
c.47C>T (p.Ala16Val)
12g.51912522C>ACA479804352ACVRL1c.90C>A (p.Ala30=)
c.48C>A (p.Ala16=)
12g.51912522C=CA2036266314ACVRL1c.90C= (p.Ala30=)
c.48C= (p.Ala16=)
12g.51912522C>GCA479804354ACVRL1c.90C>G (p.Ala30=)
c.48C>G (p.Ala16=)
 dbSNP gnomAD v2 gnomAD v4
12g.51912522C>TCA479804353ACVRL1c.90C>T (p.Ala30=)
c.48C>T (p.Ala16=)
12g.51912523T>ACA384896670ACVRL1c.91T>A (p.Leu31Met)
c.49T>A (p.Leu17Met)
12g.51912523T>CCA236361368ACVRL1c.91T>C (p.Leu31=)
c.49T>C (p.Leu17=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51912523T>GCA384896671ACVRL1c.91T>G (p.Leu31Val)
c.49T>G (p.Leu17Val)
12g.51912523T=CA2036266318ACVRL1c.91T= (p.Leu31=)
c.49T= (p.Leu17=)
12g.51912524dupCA2573148771ACVRL1c.92dup (p.Leu31PhefsTer21)
c.50dup (p.Leu17PhefsTer21)
c.92dup (p.Leu31PhefsTer20)
 ClinVar dbSNP
12g.51912524_51912527delCA2695216659ACVRL1c.92_95del (p.Leu31Ter)
c.50_53del (p.Leu17Ter)
12g.51912524T>ACA384896672ACVRL1c.92T>A (p.Leu31Ter)
c.50T>A (p.Leu17Ter)
12g.51912524T>CCA384896673ACVRL1c.92T>C (p.Leu31Ser)
c.50T>C (p.Leu17Ser)
12g.51912524T>GCA384896677ACVRL1c.92T>G (p.Leu31Trp)
c.50T>G (p.Leu17Trp)
12g.51912525G>ACA479804356ACVRL1c.93G>A (p.Leu31=)
c.51G>A (p.Leu17=)
 dbSNP gnomAD v4
12g.51912525G>CCA384896681ACVRL1c.93G>C (p.Leu31Phe)
c.51G>C (p.Leu17Phe)
12g.51912525G=CA2036266320ACVRL1c.93G= (p.Leu31=)
c.51G= (p.Leu17=)
12g.51912525G>TCA236361381ACVRL1c.93G>T (p.Leu31Phe)
c.51G>T (p.Leu17Phe)
12g.51912526G>ACA6572788ACVRL1c.94G>A (p.Val32Met)
c.52G>A (p.Val18Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51912526G>CCA384896688ACVRL1c.94G>C (p.Val32Leu)
c.52G>C (p.Val18Leu)
12g.51912526G=CA2036266323ACVRL1c.94G= (p.Val32=)
c.52G= (p.Val18=)
12g.51912526G>TCA384896694ACVRL1c.94G>T (p.Val32Leu)
c.52G>T (p.Val18Leu)
12g.51912527T>ACA384896698ACVRL1c.95T>A (p.Val32Glu)
c.53T>A (p.Val18Glu)
12g.51912527T>CCA384896701ACVRL1c.95T>C (p.Val32Ala)
c.53T>C (p.Val18Ala)
12g.51912527T>GCA384896712ACVRL1c.95T>G (p.Val32Gly)
c.53T>G (p.Val18Gly)
12g.51912528G>ACA479804359ACVRL1c.96G>A (p.Val32=)
c.54G>A (p.Val18=)
12g.51912528G>CCA479804360ACVRL1c.96G>C (p.Val32=)
c.54G>C (p.Val18=)
12g.51912528G>TCA479804361ACVRL1c.96G>T (p.Val32=)
c.54G>T (p.Val18=)
12g.51912529A>CCA384896721ACVRL1c.97A>C (p.Thr33Pro)
c.55A>C (p.Thr19Pro)
12g.51912529A>GCA384896716ACVRL1c.97A>G (p.Thr33Ala)
c.55A>G (p.Thr19Ala)
12g.51912529A>TCA384896718ACVRL1c.97A>T (p.Thr33Ser)
c.55A>T (p.Thr19Ser)
12g.51912529dupCA2582341783ACVRL1c.97dup (p.Thr33AsnfsTer19)
c.55dup (p.Thr19AsnfsTer19)
c.97dup (p.Thr33AsnfsTer18)
 ClinVar
12g.51912530C>ACA384896724ACVRL1c.98C>A (p.Thr33Asn)
c.56C>A (p.Thr19Asn)
12g.51912530C>GCA384896726ACVRL1c.98C>G (p.Thr33Ser)
c.56C>G (p.Thr19Ser)
 gnomAD v4
12g.51912530C>TCA384896730ACVRL1c.98C>T (p.Thr33Ile)
c.56C>T (p.Thr19Ile)
12g.51912532delCA2618856032ACVRL1c.100del (p.Gln34ArgfsTer5)
c.58del (p.Gln20ArgfsTer5)
c.100del (p.Gln34ArgfsTer?)
 gnomAD v4
12g.51912531C>ACA479804362ACVRL1c.99C>A (p.Thr33=)
c.57C>A (p.Thr19=)
12g.51912531C>GCA479804363ACVRL1c.99C>G (p.Thr33=)
c.57C>G (p.Thr19=)
12g.51912531C>TCA479804364ACVRL1c.99C>T (p.Thr33=)
c.57C>T (p.Thr19=)
 gnomAD v4
12g.51912532C>ACA384896733ACVRL1c.100C>A (p.Gln34Lys)
c.58C>A (p.Gln20Lys)
12g.51912532C=CA2036266327ACVRL1c.100C= (p.Gln34=)
c.58C= (p.Gln20=)
12g.51912532C>GCA384896739ACVRL1c.100C>G (p.Gln34Glu)
c.58C>G (p.Gln20Glu)
 gnomAD v4
12g.51912532C>TCA384896740ACVRL1c.100C>T (p.Gln34Ter)
c.58C>T (p.Gln20Ter)
 ClinVar dbSNP
12g.51912533A>CCA384896743ACVRL1c.101A>C (p.Gln34Pro)
c.59A>C (p.Gln20Pro)
12g.51912533A>GCA384896744ACVRL1c.101A>G (p.Gln34Arg)
c.59A>G (p.Gln20Arg)
12g.51912533A>TCA384896745ACVRL1c.101A>T (p.Gln34Leu)
c.59A>T (p.Gln20Leu)
12g.51912534G>ACA479804367ACVRL1c.102G>A (p.Gln34=)
c.60G>A (p.Gln20=)
12g.51912534G>CCA384896746ACVRL1c.102G>C (p.Gln34His)
c.60G>C (p.Gln20His)
12g.51912534G>TCA384896747ACVRL1c.102G>T (p.Gln34His)
c.60G>T (p.Gln20His)
12g.51912534_51912535insTACTCACCCTGCA2618856035ACVRL1c.102_103insTACTCACCCTG (p.Gly35TyrfsTer8)
c.60_61insTACTCACCCTG (p.Gly21TyrfsTer8)
c.102_103insTACTCACCCTG (p.Gly35TyrfsTer?)
 gnomAD v4
12g.51912535G>ACA384896750ACVRL1c.103G>A (p.Gly35Arg)
c.61G>A (p.Gly21Arg)
12g.51912535G>CCA384896758ACVRL1c.103G>C (p.Gly35Arg)
c.61G>C (p.Gly21Arg)
12g.51912535G>TCA384896754ACVRL1c.103G>T (p.Gly35Ter)
c.61G>T (p.Gly21Ter)

Number of alleles fetched