Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51920681_51920739delCA2596578555ACVRL1c.1108-78_1108-20del (n.1108-78_1108-20del)
c.1378-78_1378-20del (n.1378-78_1378-20del)
c.856-78_856-20del (n.856-78_856-20del)
c.1420-78_1420-20del (n.1420-78_1420-20del)
c.589-78_589-20del (n.589-78_589-20del)
 gnomAD v3 gnomAD v4
12g.51920691_51920750delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCACA2036241567ACVRL1c.1108-68_1108-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA (n.1108-68_1108-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA)
c.1378-68_1378-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA (n.1378-68_1378-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA)
c.856-68_856-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA (n.856-68_856-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA)
c.1420-68_1420-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA (n.1420-68_1420-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA)
c.589-68_589-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA (n.589-68_589-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA)
12g.51920698_51920756delCA947668812ACVRL1c.1108-61_1108-3del (n.1108-61_1108-3del)
c.1378-61_1378-3del (n.1378-61_1378-3del)
c.856-61_856-3del (n.856-61_856-3del)
c.1420-61_1420-3del (n.1420-61_1420-3del)
c.589-61_589-3del (n.589-61_589-3del)
 dbSNP gnomAD v3 gnomAD v4
12g.51920712_51920739dupCA605053059ACVRL1c.1108-47_1108-20dup (n.1108-47_1108-20dup)
c.1378-47_1378-20dup (n.1378-47_1378-20dup)
c.856-47_856-20dup (n.856-47_856-20dup)
c.1420-47_1420-20dup (n.1420-47_1420-20dup)
c.589-47_589-20dup (n.589-47_589-20dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51920712_51920739delCA2036241583ACVRL1c.1108-47_1108-20del (n.1108-47_1108-20del)
c.1378-47_1378-20del (n.1378-47_1378-20del)
c.856-47_856-20del (n.856-47_856-20del)
c.1420-47_1420-20del (n.1420-47_1420-20del)
c.589-47_589-20del (n.589-47_589-20del)
 dbSNP gnomAD v4
12g.51920723_51920739delinsGCCTCCTCTCCTCTGCACA2036241607ACVRL1c.1108-36_1108-20delinsGCCTCCTCTCCTCTGCA (n.1108-36_1108-20delinsGCCTCCTCTCCTCTGCA)
c.1378-36_1378-20delinsGCCTCCTCTCCTCTGCA (n.1378-36_1378-20delinsGCCTCCTCTCCTCTGCA)
c.856-36_856-20delinsGCCTCCTCTCCTCTGCA (n.856-36_856-20delinsGCCTCCTCTCCTCTGCA)
c.1420-36_1420-20delinsGCCTCCTCTCCTCTGCA (n.1420-36_1420-20delinsGCCTCCTCTCCTCTGCA)
c.589-36_589-20delinsGCCTCCTCTCCTCTGCA (n.589-36_589-20delinsGCCTCCTCTCCTCTGCA)
12g.51920728_51920743delCA6573161ACVRL1c.1108-31_1108-16del (n.1108-31_1108-16del)
c.1378-31_1378-16del (n.1378-31_1378-16del)
c.856-31_856-16del (n.856-31_856-16del)
c.1420-31_1420-16del (n.1420-31_1420-16del)
c.589-31_589-16del (n.589-31_589-16del)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51920739delCA2575161645ACVRL1c.1108-20del (n.1108-20del)
c.1378-20del (n.1378-20del)
c.856-20del (n.856-20del)
c.1420-20del (n.1420-20del)
c.589-20del (n.589-20del)
12g.51920739A=CA2036241626ACVRL1c.1108-20A= (n.1108-20A=)
c.1378-20A= (n.1378-20A=)
c.856-20A= (n.856-20A=)
c.1420-20A= (n.1420-20A=)
c.589-20A= (n.589-20A=)
12g.51920739A>CCA2036241628ACVRL1c.1108-20A>C (n.1108-20A>C)
c.1378-20A>C (n.1378-20A>C)
c.856-20A>C (n.856-20A>C)
c.1420-20A>C (n.1420-20A>C)
c.589-20A>C (n.589-20A>C)
 dbSNP
12g.51920740C=CA2036241630ACVRL1c.1108-19C= (n.1108-19C=)
c.1378-19C= (n.1378-19C=)
c.856-19C= (n.856-19C=)
c.1420-19C= (n.1420-19C=)
c.589-19C= (n.589-19C=)
12g.51920740C>TCA6573165ACVRL1c.1108-19C>T (n.1108-19C>T)
c.1378-19C>T (n.1378-19C>T)
c.856-19C>T (n.856-19C>T)
c.1420-19C>T (n.1420-19C>T)
c.589-19C>T (n.589-19C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51920742T>CCA2618860288ACVRL1c.1108-17T>C (n.1108-17T>C)
c.1378-17T>C (n.1378-17T>C)
c.856-17T>C (n.856-17T>C)
c.1420-17T>C (n.1420-17T>C)
c.589-17T>C (n.589-17T>C)
 gnomAD v4
12g.51920745C=CA2036241633ACVRL1c.1108-14C= (n.1108-14C=)
c.1378-14C= (n.1378-14C=)
c.856-14C= (n.856-14C=)
c.1420-14C= (n.1420-14C=)
c.589-14C= (n.589-14C=)
12g.51920745C>TCA2036241634ACVRL1c.1108-14C>T (n.1108-14C>T)
c.1378-14C>T (n.1378-14C>T)
c.856-14C>T (n.856-14C>T)
c.1420-14C>T (n.1420-14C>T)
c.589-14C>T (n.589-14C>T)
 dbSNP
12g.51920747C=CA2036241636ACVRL1c.1108-12C= (n.1108-12C=)
c.1378-12C= (n.1378-12C=)
c.856-12C= (n.856-12C=)
c.1420-12C= (n.1420-12C=)
c.589-12C= (n.589-12C=)
12g.51920747C>GCA2618860290ACVRL1c.1108-12C>G (n.1108-12C>G)
c.1378-12C>G (n.1378-12C>G)
c.856-12C>G (n.856-12C>G)
c.1420-12C>G (n.1420-12C>G)
c.589-12C>G (n.589-12C>G)
 gnomAD v4
12g.51920747C>TCA2036241638ACVRL1c.1108-12C>T (n.1108-12C>T)
c.1378-12C>T (n.1378-12C>T)
c.856-12C>T (n.856-12C>T)
c.1420-12C>T (n.1420-12C>T)
c.589-12C>T (n.589-12C>T)
 dbSNP gnomAD v4
12g.51920748C>ACA2795983357ACVRL1c.1108-11C>A (n.1108-11C>A)
c.1378-11C>A (n.1378-11C>A)
c.856-11C>A (n.856-11C>A)
c.1420-11C>A (n.1420-11C>A)
c.589-11C>A (n.589-11C>A)
12g.51920748C=CA2036241640ACVRL1c.1108-11C= (n.1108-11C=)
c.1378-11C= (n.1378-11C=)
c.856-11C= (n.856-11C=)
c.1420-11C= (n.1420-11C=)
c.589-11C= (n.589-11C=)
12g.51920748C>TCA6573166ACVRL1c.1108-11C>T (n.1108-11C>T)
c.1378-11C>T (n.1378-11C>T)
c.856-11C>T (n.856-11C>T)
c.1420-11C>T (n.1420-11C>T)
c.589-11C>T (n.589-11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51920749C>TCA2618860292ACVRL1c.1108-10C>T (n.1108-10C>T)
c.1378-10C>T (n.1378-10C>T)
c.856-10C>T (n.856-10C>T)
c.1420-10C>T (n.1420-10C>T)
c.589-10C>T (n.589-10C>T)
 gnomAD v4
12g.51920750A=CA2036241645ACVRL1c.1108-9A= (n.1108-9A=)
c.1378-9A= (n.1378-9A=)
c.856-9A= (n.856-9A=)
c.1420-9A= (n.1420-9A=)
c.589-9A= (n.589-9A=)
12g.51920750A>GCA2036241646ACVRL1c.1108-9A>G (n.1108-9A>G)
c.1378-9A>G (n.1378-9A>G)
c.856-9A>G (n.856-9A>G)
c.1420-9A>G (n.1420-9A>G)
c.589-9A>G (n.589-9A>G)
 dbSNP
12g.51920751A=CA2036241648ACVRL1c.1108-8A= (n.1108-8A=)
c.1378-8A= (n.1378-8A=)
c.856-8A= (n.856-8A=)
c.1420-8A= (n.1420-8A=)
c.589-8A= (n.589-8A=)
12g.51920751A>CCA947668855ACVRL1c.1108-8A>C (n.1108-8A>C)
c.1378-8A>C (n.1378-8A>C)
c.856-8A>C (n.856-8A>C)
c.1420-8A>C (n.1420-8A>C)
c.589-8A>C (n.589-8A>C)
 dbSNP gnomAD v3 gnomAD v4
12g.51920752C>ACA2575161648ACVRL1c.1108-7C>A (n.1108-7C>A)
c.1378-7C>A (n.1378-7C>A)
c.856-7C>A (n.856-7C>A)
c.1420-7C>A (n.1420-7C>A)
c.589-7C>A (n.589-7C>A)
 gnomAD v4
12g.51920756dupCA2575161647ACVRL1c.1108-3dup (n.1108-3dup)
c.1378-3dup (n.1378-3dup)
c.856-3dup (n.856-3dup)
c.1420-3dup (n.1420-3dup)
c.589-3dup (n.589-3dup)
12g.51920753C>ACA2618860297ACVRL1c.1108-6C>A (n.1108-6C>A)
c.1378-6C>A (n.1378-6C>A)
c.856-6C>A (n.856-6C>A)
c.1420-6C>A (n.1420-6C>A)
c.589-6C>A (n.589-6C>A)
 gnomAD v4
12g.51920753C>TCA2618860296ACVRL1c.1108-6C>T (n.1108-6C>T)
c.1378-6C>T (n.1378-6C>T)
c.856-6C>T (n.856-6C>T)
c.1420-6C>T (n.1420-6C>T)
c.589-6C>T (n.589-6C>T)
 gnomAD v4
12g.51920754C>TCA2618860299ACVRL1c.1108-5C>T (n.1108-5C>T)
c.1378-5C>T (n.1378-5C>T)
c.856-5C>T (n.856-5C>T)
c.1420-5C>T (n.1420-5C>T)
c.589-5C>T (n.589-5C>T)
 gnomAD v4
12g.51920755C>GCA2739272042ACVRL1c.1108-4C>G (n.1108-4C>G)
c.1378-4C>G (n.1378-4C>G)
c.856-4C>G (n.856-4C>G)
c.1420-4C>G (n.1420-4C>G)
c.589-4C>G (n.589-4C>G)
 ClinVar
12g.51920756C>TCA2618860301ACVRL1c.1108-3C>T (n.1108-3C>T)
c.1378-3C>T (n.1378-3C>T)
c.856-3C>T (n.856-3C>T)
c.1420-3C>T (n.1420-3C>T)
c.589-3C>T (n.589-3C>T)
 gnomAD v4
12g.51920757A>CCA384905208ACVRL1c.1108-2A>C (n.1108-2A>C)
c.1378-2A>C (n.1378-2A>C)
c.856-2A>C (n.856-2A>C)
c.1420-2A>C (n.1420-2A>C)
c.589-2A>C (n.589-2A>C)
12g.51920757A>GCA384905210ACVRL1c.1108-2A>G (n.1108-2A>G)
c.1378-2A>G (n.1378-2A>G)
c.856-2A>G (n.856-2A>G)
c.1420-2A>G (n.1420-2A>G)
c.589-2A>G (n.589-2A>G)
 ClinVar dbSNP
12g.51920757A>TCA384905213ACVRL1c.1108-2A>T (n.1108-2A>T)
c.1378-2A>T (n.1378-2A>T)
c.856-2A>T (n.856-2A>T)
c.1420-2A>T (n.1420-2A>T)
c.589-2A>T (n.589-2A>T)
12g.51920758G>ACA16613756ACVRL1c.1108-1G>A (n.1108-1G>A)
c.1378-1G>A (n.1378-1G>A)
c.856-1G>A (n.856-1G>A)
c.1420-1G>A (n.1420-1G>A)
c.589-1G>A (n.589-1G>A)
 ClinVar dbSNP COSMIC COSMIC
12g.51920758G>CCA384905218ACVRL1c.1108-1G>C (n.1108-1G>C)
c.1378-1G>C (n.1378-1G>C)
c.856-1G>C (n.856-1G>C)
c.1420-1G>C (n.1420-1G>C)
c.589-1G>C (n.589-1G>C)
12g.51920758G=CA2036241653ACVRL1c.1108-1G= (n.1108-1G=)
c.1378-1G= (n.1378-1G=)
c.856-1G= (n.856-1G=)
c.1420-1G= (n.1420-1G=)
c.589-1G= (n.589-1G=)
12g.51920758G>TCA384905215ACVRL1c.1108-1G>T (n.1108-1G>T)
c.1378-1G>T (n.1378-1G>T)
c.856-1G>T (n.856-1G>T)
c.1420-1G>T (n.1420-1G>T)
c.589-1G>T (n.589-1G>T)
12g.51920759G>ACA236367666ACVRL1c.1108G>A (p.Val370Ile)
c.1378G>A (p.Val460Ile)
c.856G>A (p.Val286Ile)
c.1420G>A (p.Val474Ile)
c.589G>A (p.Val197Ile)
 dbSNP gnomAD v4
12g.51920759G>CCA384905219ACVRL1c.1108G>C (p.Val370Leu)
c.1378G>C (p.Val460Leu)
c.856G>C (p.Val286Leu)
c.1420G>C (p.Val474Leu)
c.589G>C (p.Val197Leu)
12g.51920759G=CA2036241659ACVRL1c.1108G= (p.Val370=)
c.1378G= (p.Val460=)
c.856G= (p.Val286=)
c.1420G= (p.Val474=)
c.589G= (p.Val197=)
12g.51920759G>TCA384905220ACVRL1c.1108G>T (p.Val370Phe)
c.1378G>T (p.Val460Phe)
c.856G>T (p.Val286Phe)
c.1420G>T (p.Val474Phe)
c.589G>T (p.Val197Phe)
12g.51920760T>ACA384905221ACVRL1c.1109T>A (p.Val370Asp)
c.1379T>A (p.Val460Asp)
c.857T>A (p.Val286Asp)
c.1421T>A (p.Val474Asp)
c.590T>A (p.Val197Asp)
12g.51920760T>CCA384905223ACVRL1c.1109T>C (p.Val370Ala)
c.1379T>C (p.Val460Ala)
c.857T>C (p.Val286Ala)
c.1421T>C (p.Val474Ala)
c.590T>C (p.Val197Ala)
12g.51920760T>GCA384905226ACVRL1c.1109T>G (p.Val370Gly)
c.1379T>G (p.Val460Gly)
c.857T>G (p.Val286Gly)
c.1421T>G (p.Val474Gly)
c.590T>G (p.Val197Gly)
12g.51920761C>ACA479816167ACVRL1c.1110C>A (p.Val370=)
c.1380C>A (p.Val460=)
c.858C>A (p.Val286=)
c.1422C>A (p.Val474=)
c.591C>A (p.Val197=)
12g.51920761C>GCA479816171ACVRL1c.1110C>G (p.Val370=)
c.1380C>G (p.Val460=)
c.858C>G (p.Val286=)
c.1422C>G (p.Val474=)
c.591C>G (p.Val197=)
12g.51920761C>TCA479816178ACVRL1c.1110C>T (p.Val370=)
c.1380C>T (p.Val460=)
c.858C>T (p.Val286=)
c.1422C>T (p.Val474=)
c.591C>T (p.Val197=)
 COSMIC COSMIC
12g.51920762dupCA2573148789ACVRL1c.1111dup (p.Leu371ProfsTer?)
c.1381dup (p.Leu461ProfsTer?)
c.859dup (p.Leu287ProfsTer?)
c.1423dup (p.Leu475ProfsTer?)
c.592dup (p.Leu198ProfsTer?)
 ClinVar dbSNP
12g.51920762C>ACA384905234ACVRL1c.1111C>A (p.Leu371Ile)
c.1381C>A (p.Leu461Ile)
c.859C>A (p.Leu287Ile)
c.1423C>A (p.Leu475Ile)
c.592C>A (p.Leu198Ile)
12g.51920762C=CA2036241662ACVRL1c.1111C= (p.Leu371=)
c.1381C= (p.Leu461=)
c.859C= (p.Leu287=)
c.1423C= (p.Leu475=)
c.592C= (p.Leu198=)
12g.51920762C>GCA6573167ACVRL1c.1111C>G (p.Leu371Val)
c.1381C>G (p.Leu461Val)
c.859C>G (p.Leu287Val)
c.1423C>G (p.Leu475Val)
c.592C>G (p.Leu198Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51920762C>TCA384905228ACVRL1c.1111C>T (p.Leu371Phe)
c.1381C>T (p.Leu461Phe)
c.859C>T (p.Leu287Phe)
c.1423C>T (p.Leu475Phe)
c.592C>T (p.Leu198Phe)
12g.51920763T>ACA384905251ACVRL1c.1112T>A (p.Leu371His)
c.1382T>A (p.Leu461His)
c.860T>A (p.Leu287His)
c.1424T>A (p.Leu475His)
c.593T>A (p.Leu198His)
12g.51920763T>CCA384905253ACVRL1c.1112T>C (p.Leu371Pro)
c.1382T>C (p.Leu461Pro)
c.860T>C (p.Leu287Pro)
c.1424T>C (p.Leu475Pro)
c.593T>C (p.Leu198Pro)
12g.51920763T>GCA384905255ACVRL1c.1112T>G (p.Leu371Arg)
c.1382T>G (p.Leu461Arg)
c.860T>G (p.Leu287Arg)
c.1424T>G (p.Leu475Arg)
c.593T>G (p.Leu198Arg)
12g.51920764C>ACA479816212ACVRL1c.1113C>A (p.Leu371=)
c.1383C>A (p.Leu461=)
c.861C>A (p.Leu287=)
c.1425C>A (p.Leu475=)
c.594C>A (p.Leu198=)
12g.51920764C>GCA479816216ACVRL1c.1113C>G (p.Leu371=)
c.1383C>G (p.Leu461=)
c.861C>G (p.Leu287=)
c.1425C>G (p.Leu475=)
c.594C>G (p.Leu198=)
12g.51920764C>TCA479816220ACVRL1c.1113C>T (p.Leu371=)
c.1383C>T (p.Leu461=)
c.861C>T (p.Leu287=)
c.1425C>T (p.Leu475=)
c.594C>T (p.Leu198=)
12g.51920765T>ACA384905258ACVRL1c.1114T>A (p.Ser372Thr)
c.1384T>A (p.Ser462Thr)
c.862T>A (p.Ser288Thr)
c.1426T>A (p.Ser476Thr)
c.595T>A (p.Ser199Thr)
12g.51920765T>CCA384905260ACVRL1c.1114T>C (p.Ser372Pro)
c.1384T>C (p.Ser462Pro)
c.862T>C (p.Ser288Pro)
c.1426T>C (p.Ser476Pro)
c.595T>C (p.Ser199Pro)
12g.51920765T>GCA384905263ACVRL1c.1114T>G (p.Ser372Ala)
c.1384T>G (p.Ser462Ala)
c.862T>G (p.Ser288Ala)
c.1426T>G (p.Ser476Ala)
c.595T>G (p.Ser199Ala)
12g.51920766C>ACA384905266ACVRL1c.1115C>A (p.Ser372Ter)
c.1385C>A (p.Ser462Ter)
c.863C>A (p.Ser288Ter)
c.1427C>A (p.Ser476Ter)
c.596C>A (p.Ser199Ter)
12g.51920766C=CA2036241665ACVRL1c.1115C= (p.Ser372=)
c.1385C= (p.Ser462=)
c.863C= (p.Ser288=)
c.1427C= (p.Ser476=)
c.596C= (p.Ser199=)
12g.51920766C>GCA384905272ACVRL1c.1115C>G (p.Ser372Ter)
c.1385C>G (p.Ser462Ter)
c.863C>G (p.Ser288Ter)
c.1427C>G (p.Ser476Ter)
c.596C>G (p.Ser199Ter)
 ClinVar dbSNP COSMIC COSMIC
12g.51920766C>TCA384905270ACVRL1c.1115C>T (p.Ser372Leu)
c.1385C>T (p.Ser462Leu)
c.863C>T (p.Ser288Leu)
c.1427C>T (p.Ser476Leu)
c.596C>T (p.Ser199Leu)
12g.51920767A>CCA479816242ACVRL1c.1116A>C (p.Ser372=)
c.1386A>C (p.Ser462=)
c.864A>C (p.Ser288=)
c.1428A>C (p.Ser476=)
c.597A>C (p.Ser199=)
12g.51920767A>GCA479816245ACVRL1c.1116A>G (p.Ser372=)
c.1386A>G (p.Ser462=)
c.864A>G (p.Ser288=)
c.1428A>G (p.Ser476=)
c.597A>G (p.Ser199=)
12g.51920767A>TCA479816246ACVRL1c.1116A>T (p.Ser372=)
c.1386A>T (p.Ser462=)
c.864A>T (p.Ser288=)
c.1428A>T (p.Ser476=)
c.597A>T (p.Ser199=)
12g.51920767_51920768delinsAGCA2036241672ACVRL1c.1116_1117delinsAG (p.Ser372=)
c.1386_1387delinsAG (p.Ser462=)
c.864_865delinsAG (p.Ser288=)
c.1428_1429delinsAG (p.Ser476=)
c.597_598delinsAG (p.Ser199=)
12g.51920768G>ACA6573168ACVRL1c.1117G>A (p.Gly373Ser)
c.1387G>A (p.Gly463Ser)
c.865G>A (p.Gly289Ser)
c.1429G>A (p.Gly477Ser)
c.598G>A (p.Gly200Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51920768G>CCA384905275ACVRL1c.1117G>C (p.Gly373Arg)
c.1387G>C (p.Gly463Arg)
c.865G>C (p.Gly289Arg)
c.1429G>C (p.Gly477Arg)
c.598G>C (p.Gly200Arg)
12g.51920768G=CA2036241679ACVRL1c.1117G= (p.Gly373=)
c.1387G= (p.Gly463=)
c.865G= (p.Gly289=)
c.1429G= (p.Gly477=)
c.598G= (p.Gly200=)
12g.51920768G>TCA384905277ACVRL1c.1117G>T (p.Gly373Cys)
c.1387G>T (p.Gly463Cys)
c.865G>T (p.Gly289Cys)
c.1429G>T (p.Gly477Cys)
c.598G>T (p.Gly200Cys)
12g.51920769delCA645294070ACVRL1c.1118del (p.Gly373AlafsTer2)
c.1388del (p.Gly463AlafsTer2)
c.866del (p.Gly289AlafsTer2)
c.1430del (p.Gly477AlafsTer2)
c.599del (p.Gly200AlafsTer2)
 ClinVar dbSNP
12g.51920769G>ACA384905278ACVRL1c.1118G>A (p.Gly373Asp)
c.1388G>A (p.Gly463Asp)
c.866G>A (p.Gly289Asp)
c.1430G>A (p.Gly477Asp)
c.599G>A (p.Gly200Asp)
12g.51920769G>CCA384905280ACVRL1c.1118G>C (p.Gly373Ala)
c.1388G>C (p.Gly463Ala)
c.866G>C (p.Gly289Ala)
c.1430G>C (p.Gly477Ala)
c.599G>C (p.Gly200Ala)
12g.51920769G>TCA384905283ACVRL1c.1118G>T (p.Gly373Val)
c.1388G>T (p.Gly463Val)
c.866G>T (p.Gly289Val)
c.1430G>T (p.Gly477Val)
c.599G>T (p.Gly200Val)
12g.51920769_51920770delinsGCCA2036241682ACVRL1c.1118_1119delinsGC (p.Gly373=)
c.1388_1389delinsGC (p.Gly463=)
c.866_867delinsGC (p.Gly289=)
c.1430_1431delinsGC (p.Gly477=)
c.599_600delinsGC (p.Gly200=)
12g.51920770C>ACA479816269ACVRL1c.1119C>A (p.Gly373=)
c.1389C>A (p.Gly463=)
c.867C>A (p.Gly289=)
c.1431C>A (p.Gly477=)
c.600C>A (p.Gly200=)
12g.51920770C>GCA479816273ACVRL1c.1119C>G (p.Gly373=)
c.1389C>G (p.Gly463=)
c.867C>G (p.Gly289=)
c.1431C>G (p.Gly477=)
c.600C>G (p.Gly200=)
12g.51920770C>TCA479816274ACVRL1c.1119C>T (p.Gly373=)
c.1389C>T (p.Gly463=)
c.867C>T (p.Gly289=)
c.1431C>T (p.Gly477=)
c.600C>T (p.Gly200=)
 gnomAD v4 COSMIC COSMIC
12g.51920771delCA645294071ACVRL1c.1120del (p.Leu374Ter)
c.1390del (p.Leu464Ter)
c.868del (p.Leu290Ter)
c.1432del (p.Leu478Ter)
c.601del (p.Leu201Ter)
 ClinVar dbSNP
12g.51920771C>ACA384905286ACVRL1c.1120C>A (p.Leu374Ile)
c.1390C>A (p.Leu464Ile)
c.868C>A (p.Leu290Ile)
c.1432C>A (p.Leu478Ile)
c.601C>A (p.Leu201Ile)
12g.51920771C=CA2036241692ACVRL1c.1120C= (p.Leu374=)
c.1390C= (p.Leu464=)
c.868C= (p.Leu290=)
c.1432C= (p.Leu478=)
c.601C= (p.Leu201=)
12g.51920771C>GCA384905288ACVRL1c.1120C>G (p.Leu374Val)
c.1390C>G (p.Leu464Val)
c.868C>G (p.Leu290Val)
c.1432C>G (p.Leu478Val)
c.601C>G (p.Leu201Val)
12g.51920771C>TCA479816278ACVRL1c.1120C>T (p.Leu374=)
c.1390C>T (p.Leu464=)
c.868C>T (p.Leu290=)
c.1432C>T (p.Leu478=)
c.601C>T (p.Leu201=)
 dbSNP
12g.51920772T>ACA384905295ACVRL1c.1121T>A (p.Leu374Gln)
c.1391T>A (p.Leu464Gln)
c.869T>A (p.Leu290Gln)
c.1433T>A (p.Leu478Gln)
c.602T>A (p.Leu201Gln)
12g.51920772T>CCA384905297ACVRL1c.1121T>C (p.Leu374Pro)
c.1391T>C (p.Leu464Pro)
c.869T>C (p.Leu290Pro)
c.1433T>C (p.Leu478Pro)
c.602T>C (p.Leu201Pro)
12g.51920772T>GCA384905301ACVRL1c.1121T>G (p.Leu374Arg)
c.1391T>G (p.Leu464Arg)
c.869T>G (p.Leu290Arg)
c.1433T>G (p.Leu478Arg)
c.602T>G (p.Leu201Arg)
12g.51920773A>CCA479816280ACVRL1c.1122A>C (p.Leu374=)
c.1392A>C (p.Leu464=)
c.870A>C (p.Leu290=)
c.1434A>C (p.Leu478=)
c.603A>C (p.Leu201=)
12g.51920773A>GCA479816286ACVRL1c.1122A>G (p.Leu374=)
c.1392A>G (p.Leu464=)
c.870A>G (p.Leu290=)
c.1434A>G (p.Leu478=)
c.603A>G (p.Leu201=)
12g.51920773A>TCA479816284ACVRL1c.1122A>T (p.Leu374=)
c.1392A>T (p.Leu464=)
c.870A>T (p.Leu290=)
c.1434A>T (p.Leu478=)
c.603A>T (p.Leu201=)
12g.51920774G>ACA384905303ACVRL1c.1123G>A (p.Ala375Thr)
c.1393G>A (p.Ala465Thr)
c.871G>A (p.Ala291Thr)
c.1435G>A (p.Ala479Thr)
c.604G>A (p.Ala202Thr)
12g.51920774G>CCA384905310ACVRL1c.1123G>C (p.Ala375Pro)
c.1393G>C (p.Ala465Pro)
c.871G>C (p.Ala291Pro)
c.1435G>C (p.Ala479Pro)
c.604G>C (p.Ala202Pro)
12g.51920774G>TCA384905307ACVRL1c.1123G>T (p.Ala375Ser)
c.1393G>T (p.Ala465Ser)
c.871G>T (p.Ala291Ser)
c.1435G>T (p.Ala479Ser)
c.604G>T (p.Ala202Ser)
 gnomAD v4
12g.51920775C>ACA384905313ACVRL1c.1124C>A (p.Ala375Asp)
c.1394C>A (p.Ala465Asp)
c.872C>A (p.Ala291Asp)
c.1436C>A (p.Ala479Asp)
c.605C>A (p.Ala202Asp)
12g.51920775C>GCA384905318ACVRL1c.1124C>G (p.Ala375Gly)
c.1394C>G (p.Ala465Gly)
c.872C>G (p.Ala291Gly)
c.1436C>G (p.Ala479Gly)
c.605C>G (p.Ala202Gly)
12g.51920775C>TCA384905324ACVRL1c.1124C>T (p.Ala375Val)
c.1394C>T (p.Ala465Val)
c.872C>T (p.Ala291Val)
c.1436C>T (p.Ala479Val)
c.605C>T (p.Ala202Val)
 gnomAD v4
12g.51920776T>ACA479816313ACVRL1c.1125T>A (p.Ala375=)
c.1395T>A (p.Ala465=)
c.873T>A (p.Ala291=)
c.1437T>A (p.Ala479=)
c.606T>A (p.Ala202=)
12g.51920776T>CCA479816317ACVRL1c.1125T>C (p.Ala375=)
c.1395T>C (p.Ala465=)
c.873T>C (p.Ala291=)
c.1437T>C (p.Ala479=)
c.606T>C (p.Ala202=)
12g.51920776T>GCA479816322ACVRL1c.1125T>G (p.Ala375=)
c.1395T>G (p.Ala465=)
c.873T>G (p.Ala291=)
c.1437T>G (p.Ala479=)
c.606T>G (p.Ala202=)
12g.51920777C>ACA384905327ACVRL1c.1126C>A (p.Gln376Lys)
c.1396C>A (p.Gln466Lys)
c.874C>A (p.Gln292Lys)
c.1438C>A (p.Gln480Lys)
c.607C>A (p.Gln203Lys)
12g.51920777C>GCA384905329ACVRL1c.1126C>G (p.Gln376Glu)
c.1396C>G (p.Gln466Glu)
c.874C>G (p.Gln292Glu)
c.1438C>G (p.Gln480Glu)
c.607C>G (p.Gln203Glu)
12g.51920777C>TCA384905331ACVRL1c.1126C>T (p.Gln376Ter)
c.1396C>T (p.Gln466Ter)
c.874C>T (p.Gln292Ter)
c.1438C>T (p.Gln480Ter)
c.607C>T (p.Gln203Ter)
 ClinVar
12g.51920778A>CCA384905339ACVRL1c.1127A>C (p.Gln376Pro)
c.1397A>C (p.Gln466Pro)
c.875A>C (p.Gln292Pro)
c.1439A>C (p.Gln480Pro)
c.608A>C (p.Gln203Pro)
12g.51920778A>GCA384905340ACVRL1c.1127A>G (p.Gln376Arg)
c.1397A>G (p.Gln466Arg)
c.875A>G (p.Gln292Arg)
c.1439A>G (p.Gln480Arg)
c.608A>G (p.Gln203Arg)
12g.51920778A>TCA384905341ACVRL1c.1127A>T (p.Gln376Leu)
c.1397A>T (p.Gln466Leu)
c.875A>T (p.Gln292Leu)
c.1439A>T (p.Gln480Leu)
c.608A>T (p.Gln203Leu)
12g.51920779_51920780delCA2580086438ACVRL1c.1128_1129del (p.Gln376HisfsTer27)
c.1398_1399del (p.Gln466HisfsTer27)
c.876_877del (p.Gln292HisfsTer27)
c.1440_1441del (p.Gln480HisfsTer27)
c.609_610del (p.Gln203HisfsTer27)
 ClinVar
12g.51920779G>ACA479816341ACVRL1c.1128G>A (p.Gln376=)
c.1398G>A (p.Gln466=)
c.876G>A (p.Gln292=)
c.1440G>A (p.Gln480=)
c.609G>A (p.Gln203=)
12g.51920779G>CCA384905342ACVRL1c.1128G>C (p.Gln376His)
c.1398G>C (p.Gln466His)
c.876G>C (p.Gln292His)
c.1440G>C (p.Gln480His)
c.609G>C (p.Gln203His)
12g.51920779G>TCA384905343ACVRL1c.1128G>T (p.Gln376His)
c.1398G>T (p.Gln466His)
c.876G>T (p.Gln292His)
c.1440G>T (p.Gln480His)
c.609G>T (p.Gln203His)
12g.51920780A=CA2036241697ACVRL1c.1129A= (p.Met377=)
c.1399A= (p.Met467=)
c.877A= (p.Met293=)
c.1441A= (p.Met481=)
c.610A= (p.Met204=)
12g.51920780A>CCA384905348ACVRL1c.1129A>C (p.Met377Leu)
c.1399A>C (p.Met467Leu)
c.877A>C (p.Met293Leu)
c.1441A>C (p.Met481Leu)
c.610A>C (p.Met204Leu)
12g.51920780A>GCA6573169ACVRL1c.1129A>G (p.Met377Val)
c.1399A>G (p.Met467Val)
c.877A>G (p.Met293Val)
c.1441A>G (p.Met481Val)
c.610A>G (p.Met204Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51920780A>TCA384905344ACVRL1c.1129A>T (p.Met377Leu)
c.1399A>T (p.Met467Leu)
c.877A>T (p.Met293Leu)
c.1441A>T (p.Met481Leu)
c.610A>T (p.Met204Leu)
12g.51920781T>ACA384905349ACVRL1c.1130T>A (p.Met377Lys)
c.1400T>A (p.Met467Lys)
c.878T>A (p.Met293Lys)
c.1442T>A (p.Met481Lys)
c.611T>A (p.Met204Lys)
12g.51920781T>CCA384905351ACVRL1c.1130T>C (p.Met377Thr)
c.1400T>C (p.Met467Thr)
c.878T>C (p.Met293Thr)
c.1442T>C (p.Met481Thr)
c.611T>C (p.Met204Thr)
12g.51920781T>GCA384905373ACVRL1c.1130T>G (p.Met377Arg)
c.1400T>G (p.Met467Arg)
c.878T>G (p.Met293Arg)
c.1442T>G (p.Met481Arg)
c.611T>G (p.Met204Arg)
12g.51920782G>ACA384905375ACVRL1c.1131G>A (p.Met377Ile)
c.1401G>A (p.Met467Ile)
c.879G>A (p.Met293Ile)
c.1443G>A (p.Met481Ile)
c.612G>A (p.Met204Ile)
 gnomAD v4 COSMIC COSMIC
12g.51920782G>CCA384905376ACVRL1c.1131G>C (p.Met377Ile)
c.1401G>C (p.Met467Ile)
c.879G>C (p.Met293Ile)
c.1443G>C (p.Met481Ile)
c.612G>C (p.Met204Ile)
12g.51920782G>TCA384905377ACVRL1c.1131G>T (p.Met377Ile)
c.1401G>T (p.Met467Ile)
c.879G>T (p.Met293Ile)
c.1443G>T (p.Met481Ile)
c.612G>T (p.Met204Ile)
12g.51920783A=CA2036241702ACVRL1c.1132A= (p.Met378=)
c.1402A= (p.Met468=)
c.880A= (p.Met294=)
c.1444A= (p.Met482=)
c.613A= (p.Met205=)
12g.51920783A>CCA384905378ACVRL1c.1132A>C (p.Met378Leu)
c.1402A>C (p.Met468Leu)
c.880A>C (p.Met294Leu)
c.1444A>C (p.Met482Leu)
c.613A>C (p.Met205Leu)
12g.51920783A>GCA384905379ACVRL1c.1132A>G (p.Met378Val)
c.1402A>G (p.Met468Val)
c.880A>G (p.Met294Val)
c.1444A>G (p.Met482Val)
c.613A>G (p.Met205Val)
12g.51920783A>TCA384905381ACVRL1c.1132A>T (p.Met378Leu)
c.1402A>T (p.Met468Leu)
c.880A>T (p.Met294Leu)
c.1444A>T (p.Met482Leu)
c.613A>T (p.Met205Leu)
12g.51920784T>ACA384905388ACVRL1c.1133T>A (p.Met378Lys)
c.1403T>A (p.Met468Lys)
c.881T>A (p.Met294Lys)
c.1445T>A (p.Met482Lys)
c.614T>A (p.Met205Lys)
12g.51920784T>CCA384905389ACVRL1c.1133T>C (p.Met378Thr)
c.1403T>C (p.Met468Thr)
c.881T>C (p.Met294Thr)
c.1445T>C (p.Met482Thr)
c.614T>C (p.Met205Thr)
12g.51920784T>GCA384905396ACVRL1c.1133T>G (p.Met378Arg)
c.1403T>G (p.Met468Arg)
c.881T>G (p.Met294Arg)
c.1445T>G (p.Met482Arg)
c.614T>G (p.Met205Arg)
 ClinVar
12g.51920787_51920794dupCA16043812ACVRL1c.1136_1143dup (p.Trp382GlyfsTer?)
c.1406_1413dup (p.Trp472GlyfsTer?)
c.884_891dup (p.Trp298GlyfsTer?)
c.1448_1455dup (p.Trp486GlyfsTer?)
c.617_624dup (p.Trp209GlyfsTer?)
 ClinVar dbSNP
12g.51920785G>ACA384905402ACVRL1c.1134G>A (p.Met378Ile)
c.1404G>A (p.Met468Ile)
c.882G>A (p.Met294Ile)
c.1446G>A (p.Met482Ile)
c.615G>A (p.Met205Ile)
 gnomAD v4
12g.51920785G>CCA384905404ACVRL1c.1134G>C (p.Met378Ile)
c.1404G>C (p.Met468Ile)
c.882G>C (p.Met294Ile)
c.1446G>C (p.Met482Ile)
c.615G>C (p.Met205Ile)
12g.51920785G>TCA384905399ACVRL1c.1134G>T (p.Met378Ile)
c.1404G>T (p.Met468Ile)
c.882G>T (p.Met294Ile)
c.1446G>T (p.Met482Ile)
c.615G>T (p.Met205Ile)
 COSMIC COSMIC
12g.51920786C>ACA6573171ACVRL1c.1135C>A (p.Arg379=)
c.1405C>A (p.Arg469=)
c.883C>A (p.Arg295=)
c.1447C>A (p.Arg483=)
c.616C>A (p.Arg206=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51920786C=CA2036241714ACVRL1c.1135C= (p.Arg379=)
c.1405C= (p.Arg469=)
c.883C= (p.Arg295=)
c.1447C= (p.Arg483=)
c.616C= (p.Arg206=)
12g.51920786C>GCA384905405ACVRL1c.1135C>G (p.Arg379Gly)
c.1405C>G (p.Arg469Gly)
c.883C>G (p.Arg295Gly)
c.1447C>G (p.Arg483Gly)
c.616C>G (p.Arg206Gly)
12g.51920786C>TCA6573170ACVRL1c.1135C>T (p.Arg379Trp)
c.1405C>T (p.Arg469Trp)
c.883C>T (p.Arg295Trp)
c.1447C>T (p.Arg483Trp)
c.616C>T (p.Arg206Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51920787G>ACA6573172ACVRL1c.1136G>A (p.Arg379Gln)
c.1406G>A (p.Arg469Gln)
c.884G>A (p.Arg295Gln)
c.1448G>A (p.Arg483Gln)
c.617G>A (p.Arg206Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51920787G>CCA6573173ACVRL1c.1136G>C (p.Arg379Pro)
c.1406G>C (p.Arg469Pro)
c.884G>C (p.Arg295Pro)
c.1448G>C (p.Arg483Pro)
c.617G>C (p.Arg206Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51920787G=CA2036241719ACVRL1c.1136G= (p.Arg379=)
c.1406G= (p.Arg469=)
c.884G= (p.Arg295=)
c.1448G= (p.Arg483=)
c.617G= (p.Arg206=)
12g.51920787G>TCA384905452ACVRL1c.1136G>T (p.Arg379Leu)
c.1406G>T (p.Arg469Leu)
c.884G>T (p.Arg295Leu)
c.1448G>T (p.Arg483Leu)
c.617G>T (p.Arg206Leu)
12g.51920789dupCA2580086439ACVRL1c.1138dup (p.Glu380GlyfsTer24)
c.1408dup (p.Glu470GlyfsTer24)
c.886dup (p.Glu296GlyfsTer24)
c.1450dup (p.Glu484GlyfsTer24)
c.619dup (p.Glu207GlyfsTer24)
 ClinVar
12g.51920788G>ACA479816411ACVRL1c.1137G>A (p.Arg379=)
c.1407G>A (p.Arg469=)
c.885G>A (p.Arg295=)
c.1449G>A (p.Arg483=)
c.618G>A (p.Arg206=)
 gnomAD v4
12g.51920788G>CCA479816412ACVRL1c.1137G>C (p.Arg379=)
c.1407G>C (p.Arg469=)
c.885G>C (p.Arg295=)
c.1449G>C (p.Arg483=)
c.618G>C (p.Arg206=)
12g.51920788G>TCA479816416ACVRL1c.1137G>T (p.Arg379=)
c.1407G>T (p.Arg469=)
c.885G>T (p.Arg295=)
c.1449G>T (p.Arg483=)
c.618G>T (p.Arg206=)
12g.51920789G>ACA384905455ACVRL1c.1138G>A (p.Glu380Lys)
c.1408G>A (p.Glu470Lys)
c.886G>A (p.Glu296Lys)
c.1450G>A (p.Glu484Lys)
c.619G>A (p.Glu207Lys)
12g.51920789G>CCA384905458ACVRL1c.1138G>C (p.Glu380Gln)
c.1408G>C (p.Glu470Gln)
c.886G>C (p.Glu296Gln)
c.1450G>C (p.Glu484Gln)
c.619G>C (p.Glu207Gln)
12g.51920789G>TCA384905463ACVRL1c.1138G>T (p.Glu380Ter)
c.1408G>T (p.Glu470Ter)
c.886G>T (p.Glu296Ter)
c.1450G>T (p.Glu484Ter)
c.619G>T (p.Glu207Ter)
 COSMIC COSMIC
12g.51920790A>CCA384905466ACVRL1c.1139A>C (p.Glu380Ala)
c.1409A>C (p.Glu470Ala)
c.887A>C (p.Glu296Ala)
c.1451A>C (p.Glu484Ala)
c.620A>C (p.Glu207Ala)
12g.51920790A>GCA384905472ACVRL1c.1139A>G (p.Glu380Gly)
c.1409A>G (p.Glu470Gly)
c.887A>G (p.Glu296Gly)
c.1451A>G (p.Glu484Gly)
c.620A>G (p.Glu207Gly)
12g.51920790A>TCA384905474ACVRL1c.1139A>T (p.Glu380Val)
c.1409A>T (p.Glu470Val)
c.887A>T (p.Glu296Val)
c.1451A>T (p.Glu484Val)
c.620A>T (p.Glu207Val)
12g.51920791G>ACA479816441ACVRL1c.1140G>A (p.Glu380=)
c.1410G>A (p.Glu470=)
c.888G>A (p.Glu296=)
c.1452G>A (p.Glu484=)
c.621G>A (p.Glu207=)
12g.51920791G>CCA6573174ACVRL1c.1140G>C (p.Glu380Asp)
c.1410G>C (p.Glu470Asp)
c.888G>C (p.Glu296Asp)
c.1452G>C (p.Glu484Asp)
c.621G>C (p.Glu207Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51920791G=CA2036241724ACVRL1c.1140G= (p.Glu380=)
c.1410G= (p.Glu470=)
c.888G= (p.Glu296=)
c.1452G= (p.Glu484=)
c.621G= (p.Glu207=)
12g.51920791G>TCA384905477ACVRL1c.1140G>T (p.Glu380Asp)
c.1410G>T (p.Glu470Asp)
c.888G>T (p.Glu296Asp)
c.1452G>T (p.Glu484Asp)
c.621G>T (p.Glu207Asp)
12g.51920792T>ACA384905484ACVRL1c.1141T>A (p.Cys381Ser)
c.1411T>A (p.Cys471Ser)
c.889T>A (p.Cys297Ser)
c.1453T>A (p.Cys485Ser)
c.622T>A (p.Cys208Ser)
12g.51920792T>CCA384905481ACVRL1c.1141T>C (p.Cys381Arg)
c.1411T>C (p.Cys471Arg)
c.889T>C (p.Cys297Arg)
c.1453T>C (p.Cys485Arg)
c.622T>C (p.Cys208Arg)
 ClinVar
12g.51920792T>GCA384905480ACVRL1c.1141T>G (p.Cys381Gly)
c.1411T>G (p.Cys471Gly)
c.889T>G (p.Cys297Gly)
c.1453T>G (p.Cys485Gly)
c.622T>G (p.Cys208Gly)
 ClinVar dbSNP
12g.51920792T=CA2036241727ACVRL1c.1141T= (p.Cys381=)
c.1411T= (p.Cys471=)
c.889T= (p.Cys297=)
c.1453T= (p.Cys485=)
c.622T= (p.Cys208=)
12g.51920793G>ACA384905485ACVRL1c.1142G>A (p.Cys381Tyr)
c.1412G>A (p.Cys471Tyr)
c.890G>A (p.Cys297Tyr)
c.1454G>A (p.Cys485Tyr)
c.623G>A (p.Cys208Tyr)
 ClinVar dbSNP
12g.51920793G>CCA384905488ACVRL1c.1142G>C (p.Cys381Ser)
c.1412G>C (p.Cys471Ser)
c.890G>C (p.Cys297Ser)
c.1454G>C (p.Cys485Ser)
c.623G>C (p.Cys208Ser)
12g.51920793G=CA2036241735ACVRL1c.1142G= (p.Cys381=)
c.1412G= (p.Cys471=)
c.890G= (p.Cys297=)
c.1454G= (p.Cys485=)
c.623G= (p.Cys208=)
12g.51920793G>TCA384905490ACVRL1c.1142G>T (p.Cys381Phe)
c.1412G>T (p.Cys471Phe)
c.890G>T (p.Cys297Phe)
c.1454G>T (p.Cys485Phe)
c.623G>T (p.Cys208Phe)
12g.51920794C>ACA384905493ACVRL1c.1143C>A (p.Cys381Ter)
c.1413C>A (p.Cys471Ter)
c.891C>A (p.Cys297Ter)
c.1455C>A (p.Cys485Ter)
c.624C>A (p.Cys208Ter)
 ClinVar dbSNP
12g.51920794C=CA2036241740ACVRL1c.1143C= (p.Cys381=)
c.1413C= (p.Cys471=)
c.891C= (p.Cys297=)
c.1455C= (p.Cys485=)
c.624C= (p.Cys208=)
12g.51920794C>GCA384905504ACVRL1c.1143C>G (p.Cys381Trp)
c.1413C>G (p.Cys471Trp)
c.891C>G (p.Cys297Trp)
c.1455C>G (p.Cys485Trp)
c.624C>G (p.Cys208Trp)
12g.51920794C>TCA479816459ACVRL1c.1143C>T (p.Cys381=)
c.1413C>T (p.Cys471=)
c.891C>T (p.Cys297=)
c.1455C>T (p.Cys485=)
c.624C>T (p.Cys208=)
 dbSNP gnomAD v2 gnomAD v4
12g.51920795T>ACA384905507ACVRL1c.1144T>A (p.Trp382Arg)
c.1414T>A (p.Trp472Arg)
c.892T>A (p.Trp298Arg)
c.1456T>A (p.Trp486Arg)
c.625T>A (p.Trp209Arg)
 ClinVar
12g.51920795T>CCA384905508ACVRL1c.1144T>C (p.Trp382Arg)
c.1414T>C (p.Trp472Arg)
c.892T>C (p.Trp298Arg)
c.1456T>C (p.Trp486Arg)
c.625T>C (p.Trp209Arg)
 ClinVar
12g.51920795T>GCA384905509ACVRL1c.1144T>G (p.Trp382Gly)
c.1414T>G (p.Trp472Gly)
c.892T>G (p.Trp298Gly)
c.1456T>G (p.Trp486Gly)
c.625T>G (p.Trp209Gly)
12g.51920796G>ACA324198ACVRL1c.1145G>A (p.Trp382Ter)
c.1415G>A (p.Trp472Ter)
c.893G>A (p.Trp298Ter)
c.1457G>A (p.Trp486Ter)
c.626G>A (p.Trp209Ter)
 ClinVar dbSNP
12g.51920796G>CCA384905510ACVRL1c.1145G>C (p.Trp382Ser)
c.1415G>C (p.Trp472Ser)
c.893G>C (p.Trp298Ser)
c.1457G>C (p.Trp486Ser)
c.626G>C (p.Trp209Ser)
12g.51920796G=CA2036241746ACVRL1c.1145G= (p.Trp382=)
c.1415G= (p.Trp472=)
c.893G= (p.Trp298=)
c.1457G= (p.Trp486=)
c.626G= (p.Trp209=)
12g.51920796G>TCA384905512ACVRL1c.1145G>T (p.Trp382Leu)
c.1415G>T (p.Trp472Leu)
c.893G>T (p.Trp298Leu)
c.1457G>T (p.Trp486Leu)
c.626G>T (p.Trp209Leu)
12g.51920797G>ACA384905514ACVRL1c.1146G>A (p.Trp382Ter)
c.1416G>A (p.Trp472Ter)
c.894G>A (p.Trp298Ter)
c.1458G>A (p.Trp486Ter)
c.627G>A (p.Trp209Ter)
 ClinVar
12g.51920797G>CCA16613828ACVRL1c.1146G>C (p.Trp382Cys)
c.1416G>C (p.Trp472Cys)
c.894G>C (p.Trp298Cys)
c.1458G>C (p.Trp486Cys)
c.627G>C (p.Trp209Cys)
 ClinVar dbSNP
12g.51920797G=CA2036241752ACVRL1c.1146G= (p.Trp382=)
c.1416G= (p.Trp472=)
c.894G= (p.Trp298=)
c.1458G= (p.Trp486=)
c.627G= (p.Trp209=)
12g.51920797G>TCA384905521ACVRL1c.1146G>T (p.Trp382Cys)
c.1416G>T (p.Trp472Cys)
c.894G>T (p.Trp298Cys)
c.1458G>T (p.Trp486Cys)
c.627G>T (p.Trp209Cys)
 ClinVar dbSNP
12g.51920798T>ACA384905535ACVRL1c.1147T>A (p.Tyr383Asn)
c.1417T>A (p.Tyr473Asn)
c.895T>A (p.Tyr299Asn)
c.1459T>A (p.Tyr487Asn)
c.628T>A (p.Tyr210Asn)
12g.51920798T>CCA384905538ACVRL1c.1147T>C (p.Tyr383His)
c.1417T>C (p.Tyr473His)
c.895T>C (p.Tyr299His)
c.1459T>C (p.Tyr487His)
c.628T>C (p.Tyr210His)
12g.51920798T>GCA384905523ACVRL1c.1147T>G (p.Tyr383Asp)
c.1417T>G (p.Tyr473Asp)
c.895T>G (p.Tyr299Asp)
c.1459T>G (p.Tyr487Asp)
c.628T>G (p.Tyr210Asp)
12g.51920799A=CA2036241759ACVRL1c.1148A= (p.Tyr383=)
c.1418A= (p.Tyr473=)
c.896A= (p.Tyr299=)
c.1460A= (p.Tyr487=)
c.629A= (p.Tyr210=)
12g.51920799A>CCA384905541ACVRL1c.1148A>C (p.Tyr383Ser)
c.1418A>C (p.Tyr473Ser)
c.896A>C (p.Tyr299Ser)
c.1460A>C (p.Tyr487Ser)
c.629A>C (p.Tyr210Ser)
 dbSNP
12g.51920799A>GCA384905544ACVRL1c.1148A>G (p.Tyr383Cys)
c.1418A>G (p.Tyr473Cys)
c.896A>G (p.Tyr299Cys)
c.1460A>G (p.Tyr487Cys)
c.629A>G (p.Tyr210Cys)
12g.51920799A>TCA384905546ACVRL1c.1148A>T (p.Tyr383Phe)
c.1418A>T (p.Tyr473Phe)
c.896A>T (p.Tyr299Phe)
c.1460A>T (p.Tyr487Phe)
c.629A>T (p.Tyr210Phe)
12g.51920800C>ACA384905547ACVRL1c.1149C>A (p.Tyr383Ter)
c.1419C>A (p.Tyr473Ter)
c.897C>A (p.Tyr299Ter)
c.1461C>A (p.Tyr487Ter)
c.630C>A (p.Tyr210Ter)
 ClinVar dbSNP
12g.51920800C=CA2036241761ACVRL1c.1149C= (p.Tyr383=)
c.1419C= (p.Tyr473=)
c.897C= (p.Tyr299=)
c.1461C= (p.Tyr487=)
c.630C= (p.Tyr210=)
12g.51920800C>GCA384905548ACVRL1c.1149C>G (p.Tyr383Ter)
c.1419C>G (p.Tyr473Ter)
c.897C>G (p.Tyr299Ter)
c.1461C>G (p.Tyr487Ter)
c.630C>G (p.Tyr210Ter)
 ClinVar dbSNP
12g.51920800C>TCA479816537ACVRL1c.1149C>T (p.Tyr383=)
c.1419C>T (p.Tyr473=)
c.897C>T (p.Tyr299=)
c.1461C>T (p.Tyr487=)
c.630C>T (p.Tyr210=)
12g.51920802delCA2695216727ACVRL1c.1151del (p.Pro384GlnfsTer28)
c.1421del (p.Pro474GlnfsTer28)
c.899del (p.Pro300GlnfsTer28)
c.1463del (p.Pro488GlnfsTer28)
c.632del (p.Pro211GlnfsTer28)
12g.51920801C>ACA384905556ACVRL1c.1150C>A (p.Pro384Thr)
c.1420C>A (p.Pro474Thr)
c.898C>A (p.Pro300Thr)
c.1462C>A (p.Pro488Thr)
c.631C>A (p.Pro211Thr)
 COSMIC COSMIC
12g.51920801C>GCA384905553ACVRL1c.1150C>G (p.Pro384Ala)
c.1420C>G (p.Pro474Ala)
c.898C>G (p.Pro300Ala)
c.1462C>G (p.Pro488Ala)
c.631C>G (p.Pro211Ala)
12g.51920801C>TCA384905549ACVRL1c.1150C>T (p.Pro384Ser)
c.1420C>T (p.Pro474Ser)
c.898C>T (p.Pro300Ser)
c.1462C>T (p.Pro488Ser)
c.631C>T (p.Pro211Ser)
12g.51920802C>ACA384905559ACVRL1c.1151C>A (p.Pro384Gln)
c.1421C>A (p.Pro474Gln)
c.899C>A (p.Pro300Gln)
c.1463C>A (p.Pro488Gln)
c.632C>A (p.Pro211Gln)
 gnomAD v4
12g.51920802C>GCA384905560ACVRL1c.1151C>G (p.Pro384Arg)
c.1421C>G (p.Pro474Arg)
c.899C>G (p.Pro300Arg)
c.1463C>G (p.Pro488Arg)
c.632C>G (p.Pro211Arg)
12g.51920802C>TCA384905562ACVRL1c.1151C>T (p.Pro384Leu)
c.1421C>T (p.Pro474Leu)
c.899C>T (p.Pro300Leu)
c.1463C>T (p.Pro488Leu)
c.632C>T (p.Pro211Leu)
12g.51920803A>CCA479816562ACVRL1c.1152A>C (p.Pro384=)
c.1422A>C (p.Pro474=)
c.900A>C (p.Pro300=)
c.1464A>C (p.Pro488=)
c.633A>C (p.Pro211=)
12g.51920803A>GCA479816567ACVRL1c.1152A>G (p.Pro384=)
c.1422A>G (p.Pro474=)
c.900A>G (p.Pro300=)
c.1464A>G (p.Pro488=)
c.633A>G (p.Pro211=)
12g.51920803A>TCA479816564ACVRL1c.1152A>T (p.Pro384=)
c.1422A>T (p.Pro474=)
c.900A>T (p.Pro300=)
c.1464A>T (p.Pro488=)
c.633A>T (p.Pro211=)
12g.51920804A>CCA384905565ACVRL1c.1153A>C (p.Asn385His)
c.1423A>C (p.Asn475His)
c.901A>C (p.Asn301His)
c.1465A>C (p.Asn489His)
c.634A>C (p.Asn212His)
12g.51920804A>GCA384905568ACVRL1c.1153A>G (p.Asn385Asp)
c.1423A>G (p.Asn475Asp)
c.901A>G (p.Asn301Asp)
c.1465A>G (p.Asn489Asp)
c.634A>G (p.Asn212Asp)
12g.51920804A>TCA384905570ACVRL1c.1153A>T (p.Asn385Tyr)
c.1423A>T (p.Asn475Tyr)
c.901A>T (p.Asn301Tyr)
c.1465A>T (p.Asn489Tyr)
c.634A>T (p.Asn212Tyr)
12g.51920804_51920805insCACACCCAACACCA2795983359ACVRL1c.1153_1154insCACACCCAACAC (p.Asn385delinsThrHisProThrHis)
c.1423_1424insCACACCCAACAC (p.Asn475delinsThrHisProThrHis)
c.901_902insCACACCCAACAC (p.Asn301delinsThrHisProThrHis)
c.1465_1466insCACACCCAACAC (p.Asn489delinsThrHisProThrHis)
c.634_635insCACACCCAACAC (p.Asn212delinsThrHisProThrHis)
12g.51920805A=CA2036241766ACVRL1c.1154A= (p.Asn385=)
c.1424A= (p.Asn475=)
c.902A= (p.Asn301=)
c.1466A= (p.Asn489=)
c.635A= (p.Asn212=)
12g.51920805A>CCA384905573ACVRL1c.1154A>C (p.Asn385Thr)
c.1424A>C (p.Asn475Thr)
c.902A>C (p.Asn301Thr)
c.1466A>C (p.Asn489Thr)
c.635A>C (p.Asn212Thr)
 dbSNP
12g.51920805A>GCA384905577ACVRL1c.1154A>G (p.Asn385Ser)
c.1424A>G (p.Asn475Ser)
c.902A>G (p.Asn301Ser)
c.1466A>G (p.Asn489Ser)
c.635A>G (p.Asn212Ser)
12g.51920805A>TCA384905574ACVRL1c.1154A>T (p.Asn385Ile)
c.1424A>T (p.Asn475Ile)
c.902A>T (p.Asn301Ile)
c.1466A>T (p.Asn489Ile)
c.635A>T (p.Asn212Ile)
12g.51920805_51920806delinsACCA2036241767ACVRL1c.1154_1155delinsAC (p.Asn385=)
c.1424_1425delinsAC (p.Asn475=)
c.902_903delinsAC (p.Asn301=)
c.1466_1467delinsAC (p.Asn489=)
c.635_636delinsAC (p.Asn212=)
12g.51920806C>ACA384905578ACVRL1c.1155C>A (p.Asn385Lys)
c.1425C>A (p.Asn475Lys)
c.903C>A (p.Asn301Lys)
c.1467C>A (p.Asn489Lys)
c.636C>A (p.Asn212Lys)
 gnomAD v4
12g.51920806C=CA2036241780ACVRL1c.1155C= (p.Asn385=)
c.1425C= (p.Asn475=)
c.903C= (p.Asn301=)
c.1467C= (p.Asn489=)
c.636C= (p.Asn212=)
12g.51920806C>GCA384905579ACVRL1c.1155C>G (p.Asn385Lys)
c.1425C>G (p.Asn475Lys)
c.903C>G (p.Asn301Lys)
c.1467C>G (p.Asn489Lys)
c.636C>G (p.Asn212Lys)
12g.51920806C>TCA6573175ACVRL1c.1155C>T (p.Asn385=)
c.1425C>T (p.Asn475=)
c.903C>T (p.Asn301=)
c.1467C>T (p.Asn489=)
c.636C>T (p.Asn212=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51920809dupCA2695216728ACVRL1c.1158dup (p.Ser387LeufsTer17)
c.1428dup (p.Ser477LeufsTer17)
c.906dup (p.Ser303LeufsTer17)
c.1470dup (p.Ser491LeufsTer17)
c.639dup (p.Ser214LeufsTer17)
12g.51920809delCA915948414ACVRL1c.1158del (p.Ser387LeufsTer25)
c.1428del (p.Ser477LeufsTer25)
c.906del (p.Ser303LeufsTer25)
c.1470del (p.Ser491LeufsTer25)
c.639del (p.Ser214LeufsTer25)
 ClinVar dbSNP
12g.51920807_51920809delCA2697554499ACVRL1c.1156_1158del (p.Pro386del)
c.1426_1428del (p.Pro476del)
c.904_906del (p.Pro302del)
c.1468_1470del (p.Pro490del)
c.637_639del (p.Pro213del)
 ClinVar
12g.51920807C>ACA384905596ACVRL1c.1156C>A (p.Pro386Thr)
c.1426C>A (p.Pro476Thr)
c.904C>A (p.Pro302Thr)
c.1468C>A (p.Pro490Thr)
c.637C>A (p.Pro213Thr)
12g.51920807C>GCA384905599ACVRL1c.1156C>G (p.Pro386Ala)
c.1426C>G (p.Pro476Ala)
c.904C>G (p.Pro302Ala)
c.1468C>G (p.Pro490Ala)
c.637C>G (p.Pro213Ala)
12g.51920807C>TCA384905606ACVRL1c.1156C>T (p.Pro386Ser)
c.1426C>T (p.Pro476Ser)
c.904C>T (p.Pro302Ser)
c.1468C>T (p.Pro490Ser)
c.637C>T (p.Pro213Ser)
 gnomAD v4
12g.51920808C>ACA384905609ACVRL1c.1157C>A (p.Pro386His)
c.1427C>A (p.Pro476His)
c.905C>A (p.Pro302His)
c.1469C>A (p.Pro490His)
c.638C>A (p.Pro213His)
12g.51920808C=CA2036241791ACVRL1c.1157C= (p.Pro386=)
c.1427C= (p.Pro476=)
c.905C= (p.Pro302=)
c.1469C= (p.Pro490=)
c.638C= (p.Pro213=)
12g.51920808C>GCA384905615ACVRL1c.1157C>G (p.Pro386Arg)
c.1427C>G (p.Pro476Arg)
c.905C>G (p.Pro302Arg)
c.1469C>G (p.Pro490Arg)
c.638C>G (p.Pro213Arg)
 ClinVar dbSNP
12g.51920808C>TCA384905619ACVRL1c.1157C>T (p.Pro386Leu)
c.1427C>T (p.Pro476Leu)
c.905C>T (p.Pro302Leu)
c.1469C>T (p.Pro490Leu)
c.638C>T (p.Pro213Leu)
 ClinVar dbSNP COSMIC
12g.51920809C>ACA479816612ACVRL1c.1158C>A (p.Pro386=)
c.1428C>A (p.Pro476=)
c.906C>A (p.Pro302=)
c.1470C>A (p.Pro490=)
c.639C>A (p.Pro213=)
12g.51920809C=CA2036241805ACVRL1c.1158C= (p.Pro386=)
c.1428C= (p.Pro476=)
c.906C= (p.Pro302=)
c.1470C= (p.Pro490=)
c.639C= (p.Pro213=)
12g.51920809C>GCA479816615ACVRL1c.1158C>G (p.Pro386=)
c.1428C>G (p.Pro476=)
c.906C>G (p.Pro302=)
c.1470C>G (p.Pro490=)
c.639C>G (p.Pro213=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51920809C>TCA6573176ACVRL1c.1158C>T (p.Pro386=)
c.1428C>T (p.Pro476=)
c.906C>T (p.Pro302=)
c.1470C>T (p.Pro490=)
c.639C>T (p.Pro213=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51920809_51920812delCA2795983780ACVRL1c.1158_1161del (p.Ser387ProfsTer24)
c.1428_1431del (p.Ser477ProfsTer24)
c.906_909del (p.Ser303ProfsTer24)
c.1470_1473del (p.Ser491ProfsTer24)
c.639_642del (p.Ser214ProfsTer24)
12g.51920810T>ACA384905631ACVRL1c.1159T>A (p.Ser387Thr)
c.1429T>A (p.Ser477Thr)
c.907T>A (p.Ser303Thr)
c.1471T>A (p.Ser491Thr)
c.640T>A (p.Ser214Thr)
12g.51920810T>CCA384905628ACVRL1c.1159T>C (p.Ser387Pro)
c.1429T>C (p.Ser477Pro)
c.907T>C (p.Ser303Pro)
c.1471T>C (p.Ser491Pro)
c.640T>C (p.Ser214Pro)
12g.51920810T>GCA384905626ACVRL1c.1159T>G (p.Ser387Ala)
c.1429T>G (p.Ser477Ala)
c.907T>G (p.Ser303Ala)
c.1471T>G (p.Ser491Ala)
c.640T>G (p.Ser214Ala)
12g.51920811C>ACA384905635ACVRL1c.1160C>A (p.Ser387Tyr)
c.1430C>A (p.Ser477Tyr)
c.908C>A (p.Ser303Tyr)
c.1472C>A (p.Ser491Tyr)
c.641C>A (p.Ser214Tyr)
12g.51920811C=CA2036241809ACVRL1c.1160C= (p.Ser387=)
c.1430C= (p.Ser477=)
c.908C= (p.Ser303=)
c.1472C= (p.Ser491=)
c.641C= (p.Ser214=)
12g.51920811C>GCA384905659ACVRL1c.1160C>G (p.Ser387Cys)
c.1430C>G (p.Ser477Cys)
c.908C>G (p.Ser303Cys)
c.1472C>G (p.Ser491Cys)
c.641C>G (p.Ser214Cys)
12g.51920811C>TCA384905655ACVRL1c.1160C>T (p.Ser387Phe)
c.1430C>T (p.Ser477Phe)
c.908C>T (p.Ser303Phe)
c.1472C>T (p.Ser491Phe)
c.641C>T (p.Ser214Phe)
 dbSNP gnomAD v4
12g.51920812_51920813insCACCCGCTCA2695216729ACVRL1c.1161_1162insCACCCGCT (p.Ala388HisfsTer27)
c.1431_1432insCACCCGCT (p.Ala478HisfsTer27)
c.909_910insCACCCGCT (p.Ala304HisfsTer27)
c.1473_1474insCACCCGCT (p.Ala492HisfsTer27)
c.642_643insCACCCGCT (p.Ala215HisfsTer27)
12g.51920812T>ACA479816644ACVRL1c.1161T>A (p.Ser387=)
c.1431T>A (p.Ser477=)
c.909T>A (p.Ser303=)
c.1473T>A (p.Ser491=)
c.642T>A (p.Ser214=)
12g.51920812T>CCA479816646ACVRL1c.1161T>C (p.Ser387=)
c.1431T>C (p.Ser477=)
c.909T>C (p.Ser303=)
c.1473T>C (p.Ser491=)
c.642T>C (p.Ser214=)
12g.51920812T>GCA479816652ACVRL1c.1161T>G (p.Ser387=)
c.1431T>G (p.Ser477=)
c.909T>G (p.Ser303=)
c.1473T>G (p.Ser491=)
c.642T>G (p.Ser214=)
12g.51920813G>ACA384905663ACVRL1c.1162G>A (p.Ala388Thr)
c.1432G>A (p.Ala478Thr)
c.910G>A (p.Ala304Thr)
c.1474G>A (p.Ala492Thr)
c.643G>A (p.Ala215Thr)
12g.51920813G>CCA384905669ACVRL1c.1162G>C (p.Ala388Pro)
c.1432G>C (p.Ala478Pro)
c.910G>C (p.Ala304Pro)
c.1474G>C (p.Ala492Pro)
c.643G>C (p.Ala215Pro)
 ClinVar dbSNP
12g.51920813G=CA2036241811ACVRL1c.1162G= (p.Ala388=)
c.1432G= (p.Ala478=)
c.910G= (p.Ala304=)
c.1474G= (p.Ala492=)
c.643G= (p.Ala215=)
12g.51920813G>TCA384905671ACVRL1c.1162G>T (p.Ala388Ser)
c.1432G>T (p.Ala478Ser)
c.910G>T (p.Ala304Ser)
c.1474G>T (p.Ala492Ser)
c.643G>T (p.Ala215Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51920814C>ACA384905673ACVRL1c.1163C>A (p.Ala388Asp)
c.1433C>A (p.Ala478Asp)
c.911C>A (p.Ala304Asp)
c.1475C>A (p.Ala492Asp)
c.644C>A (p.Ala215Asp)
 ClinVar dbSNP
12g.51920814C=CA2036241815ACVRL1c.1163C= (p.Ala388=)
c.1433C= (p.Ala478=)
c.911C= (p.Ala304=)
c.1475C= (p.Ala492=)
c.644C= (p.Ala215=)
12g.51920814C>GCA384905675ACVRL1c.1163C>G (p.Ala388Gly)
c.1433C>G (p.Ala478Gly)
c.911C>G (p.Ala304Gly)
c.1475C>G (p.Ala492Gly)
c.644C>G (p.Ala215Gly)
12g.51920814C>TCA384905678ACVRL1c.1163C>T (p.Ala388Val)
c.1433C>T (p.Ala478Val)
c.911C>T (p.Ala304Val)
c.1475C>T (p.Ala492Val)
c.644C>T (p.Ala215Val)
 gnomAD v4
12g.51920815C>ACA479816668ACVRL1c.1164C>A (p.Ala388=)
c.1434C>A (p.Ala478=)
c.912C>A (p.Ala304=)
c.1476C>A (p.Ala492=)
c.645C>A (p.Ala215=)
 gnomAD v4
12g.51920815C=CA2036241818ACVRL1c.1164C= (p.Ala388=)
c.1434C= (p.Ala478=)
c.912C= (p.Ala304=)
c.1476C= (p.Ala492=)
c.645C= (p.Ala215=)
12g.51920815C>GCA479816682ACVRL1c.1164C>G (p.Ala388=)
c.1434C>G (p.Ala478=)
c.912C>G (p.Ala304=)
c.1476C>G (p.Ala492=)
c.645C>G (p.Ala215=)
 dbSNP gnomAD v4
12g.51920815C>TCA479816693ACVRL1c.1164C>T (p.Ala388=)
c.1434C>T (p.Ala478=)
c.912C>T (p.Ala304=)
c.1476C>T (p.Ala492=)
c.645C>T (p.Ala215=)
 gnomAD v4
12g.51920816C>ACA479816697ACVRL1c.1165C>A (p.Arg389=)
c.1435C>A (p.Arg479=)
c.913C>A (p.Arg305=)
c.1477C>A (p.Arg493=)
c.646C>A (p.Arg216=)
 gnomAD v4
12g.51920816C=CA2036241824ACVRL1c.1165C= (p.Arg389=)
c.1435C= (p.Arg479=)
c.913C= (p.Arg305=)
c.1477C= (p.Arg493=)
c.646C= (p.Arg216=)
12g.51920816C>GCA384905679ACVRL1c.1165C>G (p.Arg389Gly)
c.1435C>G (p.Arg479Gly)
c.913C>G (p.Arg305Gly)
c.1477C>G (p.Arg493Gly)
c.646C>G (p.Arg216Gly)
12g.51920816C>TCA16042853ACVRL1c.1165C>T (p.Arg389Ter)
c.1435C>T (p.Arg479Ter)
c.913C>T (p.Arg305Ter)
c.1477C>T (p.Arg493Ter)
c.646C>T (p.Arg216Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51920817_51920821dupCA2695199089ACVRL1c.1166_1170dup (p.Thr391AspfsTer23)
c.1436_1440dup (p.Thr481AspfsTer23)
c.914_918dup (p.Thr307AspfsTer23)
c.1478_1482dup (p.Thr495AspfsTer23)
c.647_651dup (p.Thr218AspfsTer23)
 ClinVar
12g.51920817G>ACA384905684ACVRL1c.1166G>A (p.Arg389Gln)
c.1436G>A (p.Arg479Gln)
c.914G>A (p.Arg305Gln)
c.1478G>A (p.Arg493Gln)
c.647G>A (p.Arg216Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51920817G>CCA384905687ACVRL1c.1166G>C (p.Arg389Pro)
c.1436G>C (p.Arg479Pro)
c.914G>C (p.Arg305Pro)
c.1478G>C (p.Arg493Pro)
c.647G>C (p.Arg216Pro)
 ClinVar dbSNP
12g.51920817G=CA2036241828ACVRL1c.1166G= (p.Arg389=)
c.1436G= (p.Arg479=)
c.914G= (p.Arg305=)
c.1478G= (p.Arg493=)
c.647G= (p.Arg216=)
12g.51920817G>TCA384905691ACVRL1c.1166G>T (p.Arg389Leu)
c.1436G>T (p.Arg479Leu)
c.914G>T (p.Arg305Leu)
c.1478G>T (p.Arg493Leu)
c.647G>T (p.Arg216Leu)
12g.51920818A>CCA479816714ACVRL1c.1167A>C (p.Arg389=)
c.1437A>C (p.Arg479=)
c.915A>C (p.Arg305=)
c.1479A>C (p.Arg493=)
c.648A>C (p.Arg216=)
12g.51920818A>GCA479816717ACVRL1c.1167A>G (p.Arg389=)
c.1437A>G (p.Arg479=)
c.915A>G (p.Arg305=)
c.1479A>G (p.Arg493=)
c.648A>G (p.Arg216=)
12g.51920818A>TCA479816721ACVRL1c.1167A>T (p.Arg389=)
c.1437A>T (p.Arg479=)
c.915A>T (p.Arg305=)
c.1479A>T (p.Arg493=)
c.648A>T (p.Arg216=)
12g.51920819C>ACA384905708ACVRL1c.1168C>A (p.Leu390Ile)
c.1438C>A (p.Leu480Ile)
c.916C>A (p.Leu306Ile)
c.1480C>A (p.Leu494Ile)
c.649C>A (p.Leu217Ile)
 ClinVar
12g.51920819C>GCA384905706ACVRL1c.1168C>G (p.Leu390Val)
c.1438C>G (p.Leu480Val)
c.916C>G (p.Leu306Val)
c.1480C>G (p.Leu494Val)
c.649C>G (p.Leu217Val)
12g.51920819C>TCA384905700ACVRL1c.1168C>T (p.Leu390Phe)
c.1438C>T (p.Leu480Phe)
c.916C>T (p.Leu306Phe)
c.1480C>T (p.Leu494Phe)
c.649C>T (p.Leu217Phe)
 ClinVar
12g.51920820T>ACA384905709ACVRL1c.1169T>A (p.Leu390His)
c.1439T>A (p.Leu480His)
c.917T>A (p.Leu306His)
c.1481T>A (p.Leu494His)
c.650T>A (p.Leu217His)
12g.51920820T>CCA384905710ACVRL1c.1169T>C (p.Leu390Pro)
c.1439T>C (p.Leu480Pro)
c.917T>C (p.Leu306Pro)
c.1481T>C (p.Leu494Pro)
c.650T>C (p.Leu217Pro)
12g.51920820T>GCA384905711ACVRL1c.1169T>G (p.Leu390Arg)
c.1439T>G (p.Leu480Arg)
c.917T>G (p.Leu306Arg)
c.1481T>G (p.Leu494Arg)
c.650T>G (p.Leu217Arg)
12g.51920820_51920887delCA2695216730ACVRL1c.1169_1236del (p.Leu390ProfsTer?)
c.1439_1506del (p.Leu480ProfsTer?)
c.917_984del (p.Leu306ProfsTer?)
c.1481_1548del (p.Leu494ProfsTer?)
c.650_717del (p.Leu217ProfsTer?)
12g.51920821C>ACA479816728ACVRL1c.1170C>A (p.Leu390=)
c.1440C>A (p.Leu480=)
c.918C>A (p.Leu306=)
c.1482C>A (p.Leu494=)
c.651C>A (p.Leu217=)
12g.51920821C=CA2036241835ACVRL1c.1170C= (p.Leu390=)
c.1440C= (p.Leu480=)
c.918C= (p.Leu306=)
c.1482C= (p.Leu494=)
c.651C= (p.Leu217=)
12g.51920821C>GCA479816734ACVRL1c.1170C>G (p.Leu390=)
c.1440C>G (p.Leu480=)
c.918C>G (p.Leu306=)
c.1482C>G (p.Leu494=)
c.651C>G (p.Leu217=)
12g.51920821C>TCA236367754ACVRL1c.1170C>T (p.Leu390=)
c.1440C>T (p.Leu480=)
c.918C>T (p.Leu306=)
c.1482C>T (p.Leu494=)
c.651C>T (p.Leu217=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51920822A>CCA384905712ACVRL1c.1171A>C (p.Thr391Pro)
c.1441A>C (p.Thr481Pro)
c.919A>C (p.Thr307Pro)
c.1483A>C (p.Thr495Pro)
c.652A>C (p.Thr218Pro)
12g.51920822A>GCA384905713ACVRL1c.1171A>G (p.Thr391Ala)
c.1441A>G (p.Thr481Ala)
c.919A>G (p.Thr307Ala)
c.1483A>G (p.Thr495Ala)
c.652A>G (p.Thr218Ala)
12g.51920822A>TCA384905722ACVRL1c.1171A>T (p.Thr391Ser)
c.1441A>T (p.Thr481Ser)
c.919A>T (p.Thr307Ser)
c.1483A>T (p.Thr495Ser)
c.652A>T (p.Thr218Ser)
12g.51920823C>ACA384905725ACVRL1c.1172C>A (p.Thr391Asn)
c.1442C>A (p.Thr481Asn)
c.920C>A (p.Thr307Asn)
c.1484C>A (p.Thr495Asn)
c.653C>A (p.Thr218Asn)
12g.51920823C>GCA384905727ACVRL1c.1172C>G (p.Thr391Ser)
c.1442C>G (p.Thr481Ser)
c.920C>G (p.Thr307Ser)
c.1484C>G (p.Thr495Ser)
c.653C>G (p.Thr218Ser)
12g.51920823C>TCA384905729ACVRL1c.1172C>T (p.Thr391Ile)
c.1442C>T (p.Thr481Ile)
c.920C>T (p.Thr307Ile)
c.1484C>T (p.Thr495Ile)
c.653C>T (p.Thr218Ile)
 ClinVar
12g.51920824C>ACA479816784ACVRL1c.1173C>A (p.Thr391=)
c.1443C>A (p.Thr481=)
c.921C>A (p.Thr307=)
c.1485C>A (p.Thr495=)
c.654C>A (p.Thr218=)
12g.51920824C=CA2036241840ACVRL1c.1173C= (p.Thr391=)
c.1443C= (p.Thr481=)
c.921C= (p.Thr307=)
c.1485C= (p.Thr495=)
c.654C= (p.Thr218=)
12g.51920824C>GCA479816780ACVRL1c.1173C>G (p.Thr391=)
c.1443C>G (p.Thr481=)
c.921C>G (p.Thr307=)
c.1485C>G (p.Thr495=)
c.654C>G (p.Thr218=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51920824C>TCA479816777ACVRL1c.1173C>T (p.Thr391=)
c.1443C>T (p.Thr481=)
c.921C>T (p.Thr307=)
c.1485C>T (p.Thr495=)
c.654C>T (p.Thr218=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51920825G>ACA6573177ACVRL1c.1174G>A (p.Ala392Thr)
c.1444G>A (p.Ala482Thr)
c.922G>A (p.Ala308Thr)
c.1486G>A (p.Ala496Thr)
c.655G>A (p.Ala219Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51920825G>CCA384905733ACVRL1c.1174G>C (p.Ala392Pro)
c.1444G>C (p.Ala482Pro)
c.922G>C (p.Ala308Pro)
c.1486G>C (p.Ala496Pro)
c.655G>C (p.Ala219Pro)
 ClinVar
12g.51920825G=CA2036241844ACVRL1c.1174G= (p.Ala392=)
c.1444G= (p.Ala482=)
c.922G= (p.Ala308=)
c.1486G= (p.Ala496=)
c.655G= (p.Ala219=)
12g.51920825G>TCA384905738ACVRL1c.1174G>T (p.Ala392Ser)
c.1444G>T (p.Ala482Ser)
c.922G>T (p.Ala308Ser)
c.1486G>T (p.Ala496Ser)
c.655G>T (p.Ala219Ser)
12g.51920826C>ACA384905746ACVRL1c.1175C>A (p.Ala392Glu)
c.1445C>A (p.Ala482Glu)
c.923C>A (p.Ala308Glu)
c.1487C>A (p.Ala496Glu)
c.656C>A (p.Ala219Glu)
 ClinVar
12g.51920826C=CA2036241849ACVRL1c.1175C= (p.Ala392=)
c.1445C= (p.Ala482=)
c.923C= (p.Ala308=)
c.1487C= (p.Ala496=)
c.656C= (p.Ala219=)
12g.51920826C>GCA384905751ACVRL1c.1175C>G (p.Ala392Gly)
c.1445C>G (p.Ala482Gly)
c.923C>G (p.Ala308Gly)
c.1487C>G (p.Ala496Gly)
c.656C>G (p.Ala219Gly)
12g.51920826C>TCA211324ACVRL1c.1175C>T (p.Ala392Val)
c.1445C>T (p.Ala482Val)
c.923C>T (p.Ala308Val)
c.1487C>T (p.Ala496Val)
c.656C>T (p.Ala219Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51920827G>ACA236367761ACVRL1c.1176G>A (p.Ala392=)
c.1446G>A (p.Ala482=)
c.924G>A (p.Ala308=)
c.1488G>A (p.Ala496=)
c.657G>A (p.Ala219=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51920827G>CCA479816815ACVRL1c.1176G>C (p.Ala392=)
c.1446G>C (p.Ala482=)
c.924G>C (p.Ala308=)
c.1488G>C (p.Ala496=)
c.657G>C (p.Ala219=)
12g.51920827G=CA2036241858ACVRL1c.1176G= (p.Ala392=)
c.1446G= (p.Ala482=)
c.924G= (p.Ala308=)
c.1488G= (p.Ala496=)
c.657G= (p.Ala219=)
12g.51920827G>TCA479816819ACVRL1c.1176G>T (p.Ala392=)
c.1446G>T (p.Ala482=)
c.924G>T (p.Ala308=)
c.1488G>T (p.Ala496=)
c.657G>T (p.Ala219=)
 gnomAD v4
12g.51920828C>ACA384905760ACVRL1c.1177C>A (p.Leu393Met)
c.1447C>A (p.Leu483Met)
c.925C>A (p.Leu309Met)
c.1489C>A (p.Leu497Met)
c.658C>A (p.Leu220Met)
12g.51920828C>GCA384905770ACVRL1c.1177C>G (p.Leu393Val)
c.1447C>G (p.Leu483Val)
c.925C>G (p.Leu309Val)
c.1489C>G (p.Leu497Val)
c.658C>G (p.Leu220Val)
12g.51920828C>TCA479816825ACVRL1c.1177C>T (p.Leu393=)
c.1447C>T (p.Leu483=)
c.925C>T (p.Leu309=)
c.1489C>T (p.Leu497=)
c.658C>T (p.Leu220=)
12g.51920828_51920829delinsCTCA2036241867ACVRL1c.1177_1178delinsCT (p.Leu393=)
c.1447_1448delinsCT (p.Leu483=)
c.925_926delinsCT (p.Leu309=)
c.1489_1490delinsCT (p.Leu497=)
c.658_659delinsCT (p.Leu220=)
12g.51920829delCA1139662711ACVRL1c.1178del (p.Leu393ArgfsTer19)
c.1448del (p.Leu483ArgfsTer19)
c.926del (p.Leu309ArgfsTer19)
c.1490del (p.Leu497ArgfsTer19)
c.659del (p.Leu220ArgfsTer19)
 ClinVar dbSNP
12g.51920829T>ACA384905774ACVRL1c.1178T>A (p.Leu393Gln)
c.1448T>A (p.Leu483Gln)
c.926T>A (p.Leu309Gln)
c.1490T>A (p.Leu497Gln)
c.659T>A (p.Leu220Gln)
12g.51920829T>CCA384905784ACVRL1c.1178T>C (p.Leu393Pro)
c.1448T>C (p.Leu483Pro)
c.926T>C (p.Leu309Pro)
c.1490T>C (p.Leu497Pro)
c.659T>C (p.Leu220Pro)
12g.51920829T>GCA384905789ACVRL1c.1178T>G (p.Leu393Arg)
c.1448T>G (p.Leu483Arg)
c.926T>G (p.Leu309Arg)
c.1490T>G (p.Leu497Arg)
c.659T>G (p.Leu220Arg)
 ClinVar dbSNP
12g.51920829T=CA2036241874ACVRL1c.1178T= (p.Leu393=)
c.1448T= (p.Leu483=)
c.926T= (p.Leu309=)
c.1490T= (p.Leu497=)
c.659T= (p.Leu220=)
12g.51920830G>ACA479816836ACVRL1c.1179G>A (p.Leu393=)
c.1449G>A (p.Leu483=)
c.927G>A (p.Leu309=)
c.1491G>A (p.Leu497=)
c.660G>A (p.Leu220=)
12g.51920830G>CCA479816858ACVRL1c.1179G>C (p.Leu393=)
c.1449G>C (p.Leu483=)
c.927G>C (p.Leu309=)
c.1491G>C (p.Leu497=)
c.660G>C (p.Leu220=)
 gnomAD v4
12g.51920830G>TCA479816851ACVRL1c.1179G>T (p.Leu393=)
c.1449G>T (p.Leu483=)
c.927G>T (p.Leu309=)
c.1491G>T (p.Leu497=)
c.660G>T (p.Leu220=)
12g.51920830_51920831delinsGCCA2036241879ACVRL1c.1179_1180delinsGC (p.Leu393=)
c.1449_1450delinsGC (p.Leu483=)
c.927_928delinsGC (p.Leu309=)
c.1491_1492delinsGC (p.Leu497=)
c.660_661delinsGC (p.Leu220=)
12g.51920831_51920833dupCA2695216732ACVRL1c.1180_1182dup (p.Arg394_Ile395insArg)
c.1450_1452dup (p.Arg484_Ile485insArg)
c.928_930dup (p.Arg310_Ile311insArg)
c.1492_1494dup (p.Arg498_Ile499insArg)
c.661_663dup (p.Arg221_Ile222insArg)
12g.51920831C>ACA479816861ACVRL1c.1180C>A (p.Arg394=)
c.1450C>A (p.Arg484=)
c.928C>A (p.Arg310=)
c.1492C>A (p.Arg498=)
c.661C>A (p.Arg221=)
 ClinVar dbSNP gnomAD v4
12g.51920831C=CA2036241893ACVRL1c.1180C= (p.Arg394=)
c.1450C= (p.Arg484=)
c.928C= (p.Arg310=)
c.1492C= (p.Arg498=)
c.661C= (p.Arg221=)
12g.51920831C>GCA384905800ACVRL1c.1180C>G (p.Arg394Gly)
c.1450C>G (p.Arg484Gly)
c.928C>G (p.Arg310Gly)
c.1492C>G (p.Arg498Gly)
c.661C>G (p.Arg221Gly)
 ClinVar dbSNP
12g.51920831C>TCA119404ACVRL1c.1180C>T (p.Arg394Trp)
c.1450C>T (p.Arg484Trp)
c.928C>T (p.Arg310Trp)
c.1492C>T (p.Arg498Trp)
c.661C>T (p.Arg221Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51920831delinsTGCA645294072ACVRL1c.1180delinsTG (p.Arg394TrpfsTer10)
c.1450delinsTG (p.Arg484TrpfsTer10)
c.928delinsTG (p.Arg310TrpfsTer10)
c.1492delinsTG (p.Arg498TrpfsTer10)
c.661delinsTG (p.Arg221TrpfsTer10)
 ClinVar dbSNP
12g.51920832G>ACA323134ACVRL1c.1181G>A (p.Arg394Gln)
c.1451G>A (p.Arg484Gln)
c.929G>A (p.Arg310Gln)
c.1493G>A (p.Arg498Gln)
c.662G>A (p.Arg221Gln)
 ClinVar dbSNP
12g.51920832G>CCA384905812ACVRL1c.1181G>C (p.Arg394Pro)
c.1451G>C (p.Arg484Pro)
c.929G>C (p.Arg310Pro)
c.1493G>C (p.Arg498Pro)
c.662G>C (p.Arg221Pro)
 ClinVar dbSNP
12g.51920832G=CA2036241910ACVRL1c.1181G= (p.Arg394=)
c.1451G= (p.Arg484=)
c.929G= (p.Arg310=)
c.1493G= (p.Arg498=)
c.662G= (p.Arg221=)
12g.51920832G>TCA384905817ACVRL1c.1181G>T (p.Arg394Leu)
c.1451G>T (p.Arg484Leu)
c.929G>T (p.Arg310Leu)
c.1493G>T (p.Arg498Leu)
c.662G>T (p.Arg221Leu)
 ClinVar dbSNP
12g.51920833G>ACA479816896ACVRL1c.1182G>A (p.Arg394=)
c.1452G>A (p.Arg484=)
c.930G>A (p.Arg310=)
c.1494G>A (p.Arg498=)
c.663G>A (p.Arg221=)
12g.51920833G>CCA479816900ACVRL1c.1182G>C (p.Arg394=)
c.1452G>C (p.Arg484=)
c.930G>C (p.Arg310=)
c.1494G>C (p.Arg498=)
c.663G>C (p.Arg221=)
12g.51920833G>TCA479816903ACVRL1c.1182G>T (p.Arg394=)
c.1452G>T (p.Arg484=)
c.930G>T (p.Arg310=)
c.1494G>T (p.Arg498=)
c.663G>T (p.Arg221=)
12g.51920834A=CA2036241914ACVRL1c.1183A= (p.Ile395=)
c.1453A= (p.Ile485=)
c.931A= (p.Ile311=)
c.1495A= (p.Ile499=)
c.664A= (p.Ile222=)
12g.51920834A>CCA384905820ACVRL1c.1183A>C (p.Ile395Leu)
c.1453A>C (p.Ile485Leu)
c.931A>C (p.Ile311Leu)
c.1495A>C (p.Ile499Leu)
c.664A>C (p.Ile222Leu)
12g.51920834A>GCA384905830ACVRL1c.1183A>G (p.Ile395Val)
c.1453A>G (p.Ile485Val)
c.931A>G (p.Ile311Val)
c.1495A>G (p.Ile499Val)
c.664A>G (p.Ile222Val)
 dbSNP gnomAD v3 gnomAD v4
12g.51920834A>TCA384905831ACVRL1c.1183A>T (p.Ile395Phe)
c.1453A>T (p.Ile485Phe)
c.931A>T (p.Ile311Phe)
c.1495A>T (p.Ile499Phe)
c.664A>T (p.Ile222Phe)
12g.51920834dupCA2695216734ACVRL1c.1183dup (p.Ile395AsnfsTer9)
c.1453dup (p.Ile485AsnfsTer9)
c.931dup (p.Ile311AsnfsTer9)
c.1495dup (p.Ile499AsnfsTer9)
c.664dup (p.Ile222AsnfsTer9)
12g.51920835T>ACA384905835ACVRL1c.1184T>A (p.Ile395Asn)
c.1454T>A (p.Ile485Asn)
c.932T>A (p.Ile311Asn)
c.1496T>A (p.Ile499Asn)
c.665T>A (p.Ile222Asn)
12g.51920835T>CCA384905843ACVRL1c.1184T>C (p.Ile395Thr)
c.1454T>C (p.Ile485Thr)
c.932T>C (p.Ile311Thr)
c.1496T>C (p.Ile499Thr)
c.665T>C (p.Ile222Thr)
12g.51920835T>GCA384905841ACVRL1c.1184T>G (p.Ile395Ser)
c.1454T>G (p.Ile485Ser)
c.932T>G (p.Ile311Ser)
c.1496T>G (p.Ile499Ser)
c.665T>G (p.Ile222Ser)
12g.51920836C>ACA479816923ACVRL1c.1185C>A (p.Ile395=)
c.1455C>A (p.Ile485=)
c.933C>A (p.Ile311=)
c.1497C>A (p.Ile499=)
c.666C>A (p.Ile222=)
 gnomAD v4
12g.51920836C>GCA384905846ACVRL1c.1185C>G (p.Ile395Met)
c.1455C>G (p.Ile485Met)
c.933C>G (p.Ile311Met)
c.1497C>G (p.Ile499Met)
c.666C>G (p.Ile222Met)
12g.51920836C>TCA479816929ACVRL1c.1185C>T (p.Ile395=)
c.1455C>T (p.Ile485=)
c.933C>T (p.Ile311=)
c.1497C>T (p.Ile499=)
c.666C>T (p.Ile222=)
12g.51920836_51920839delinsCAAGCA2036241918ACVRL1c.1185_1188delinsCAAG (p.Ile395=)
c.1455_1458delinsCAAG (p.Ile485=)
c.933_936delinsCAAG (p.Ile311=)
c.1497_1500delinsCAAG (p.Ile499=)
c.666_669delinsCAAG (p.Ile222=)
12g.51920837A=CA2036241922ACVRL1c.1186A= (p.Lys396=)
c.1456A= (p.Lys486=)
c.934A= (p.Lys312=)
c.1498A= (p.Lys500=)
c.667A= (p.Lys223=)
12g.51920837A>CCA384905848ACVRL1c.1186A>C (p.Lys396Gln)
c.1456A>C (p.Lys486Gln)
c.934A>C (p.Lys312Gln)
c.1498A>C (p.Lys500Gln)
c.667A>C (p.Lys223Gln)
12g.51920837A>GCA236367781ACVRL1c.1186A>G (p.Lys396Glu)
c.1456A>G (p.Lys486Glu)
c.934A>G (p.Lys312Glu)
c.1498A>G (p.Lys500Glu)
c.667A>G (p.Lys223Glu)
 ClinVar dbSNP
12g.51920837A>TCA384905872ACVRL1c.1186A>T (p.Lys396Ter)
c.1456A>T (p.Lys486Ter)
c.934A>T (p.Lys312Ter)
c.1498A>T (p.Lys500Ter)
c.667A>T (p.Lys223Ter)
12g.51920841_51920843delCA2036241920ACVRL1c.1190_1192del (p.Lys397del)
c.1460_1462del (p.Lys487del)
c.938_940del (p.Lys313del)
c.1502_1504del (p.Lys501del)
c.671_673del (p.Lys224del)
 ClinVar dbSNP gnomAD v4
12g.51920838A>CCA384905876ACVRL1c.1187A>C (p.Lys396Thr)
c.1457A>C (p.Lys486Thr)
c.935A>C (p.Lys312Thr)
c.1499A>C (p.Lys500Thr)
c.668A>C (p.Lys223Thr)
12g.51920838A>GCA384905883ACVRL1c.1187A>G (p.Lys396Arg)
c.1457A>G (p.Lys486Arg)
c.935A>G (p.Lys312Arg)
c.1499A>G (p.Lys500Arg)
c.668A>G (p.Lys223Arg)
12g.51920838A>TCA384905885ACVRL1c.1187A>T (p.Lys396Met)
c.1457A>T (p.Lys486Met)
c.935A>T (p.Lys312Met)
c.1499A>T (p.Lys500Met)
c.668A>T (p.Lys223Met)
12g.51920839G>ACA479816953ACVRL1c.1188G>A (p.Lys396=)
c.1458G>A (p.Lys486=)
c.936G>A (p.Lys312=)
c.1500G>A (p.Lys500=)
c.669G>A (p.Lys223=)
12g.51920839G>CCA384905888ACVRL1c.1188G>C (p.Lys396Asn)
c.1458G>C (p.Lys486Asn)
c.936G>C (p.Lys312Asn)
c.1500G>C (p.Lys500Asn)
c.669G>C (p.Lys223Asn)
12g.51920839G>TCA384905890ACVRL1c.1188G>T (p.Lys396Asn)
c.1458G>T (p.Lys486Asn)
c.936G>T (p.Lys312Asn)
c.1500G>T (p.Lys500Asn)
c.669G>T (p.Lys223Asn)

Number of alleles fetched