Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51915260_51915272dupCA658797917ACVRL1c.538_550dup (p.Trp184Ter)
c.808_820dup (p.Trp274Ter)
c.286_298dup (p.Trp100Ter)
c.850_862dup (p.Trp288Ter)
c.19_31dup (p.Trp11Ter)
ClinVar dbSNP
12g.51915263_51915275delCA2695216738ACVRL1c.541_553del (p.Thr181SerfsTer26)
c.811_823del (p.Thr271SerfsTer26)
c.289_301del (p.Thr97SerfsTer26)
c.853_865del (p.Thr285SerfsTer26)
c.22_34del (p.Thr8SerfsTer26)
12g.51915268G>ACA480063155ACVRL1c.546G>A (p.Gln182=)
c.816G>A (p.Gln272=)
c.294G>A (p.Gln98=)
c.858G>A (p.Gln286=)
c.27G>A (p.Gln9=)
12g.51915268G>CCA384900425ACVRL1c.546G>C (p.Gln182His)
c.816G>C (p.Gln272His)
c.294G>C (p.Gln98His)
c.858G>C (p.Gln286His)
c.27G>C (p.Gln9His)
12g.51915268G>TCA384900427ACVRL1c.546G>T (p.Gln182His)
c.816G>T (p.Gln272His)
c.294G>T (p.Gln98His)
c.858G>T (p.Gln286His)
c.27G>T (p.Gln9His)
12g.51915269C>ACA384900429ACVRL1c.547C>A (p.Leu183Met)
c.817C>A (p.Leu273Met)
c.295C>A (p.Leu99Met)
c.859C>A (p.Leu287Met)
c.28C>A (p.Leu10Met)
12g.51915269C=CA2036269432ACVRL1c.547C= (p.Leu183=)
c.817C= (p.Leu273=)
c.295C= (p.Leu99=)
c.859C= (p.Leu287=)
c.28C= (p.Leu10=)
12g.51915269C>GCA384900431ACVRL1c.547C>G (p.Leu183Val)
c.817C>G (p.Leu273Val)
c.295C>G (p.Leu99Val)
c.859C>G (p.Leu287Val)
c.28C>G (p.Leu10Val)
12g.51915269C>TCA6573001ACVRL1c.547C>T (p.Leu183=)
c.817C>T (p.Leu273=)
c.295C>T (p.Leu99=)
c.859C>T (p.Leu287=)
c.28C>T (p.Leu10=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51915270T>ACA384900436ACVRL1c.548T>A (p.Leu183Gln)
c.818T>A (p.Leu273Gln)
c.296T>A (p.Leu99Gln)
c.860T>A (p.Leu287Gln)
c.29T>A (p.Leu10Gln)
12g.51915270T>CCA384900434ACVRL1c.548T>C (p.Leu183Pro)
c.818T>C (p.Leu273Pro)
c.296T>C (p.Leu99Pro)
c.860T>C (p.Leu287Pro)
c.29T>C (p.Leu10Pro)
ClinVar dbSNP gnomAD v4
12g.51915270T>GCA384900433ACVRL1c.548T>G (p.Leu183Arg)
c.818T>G (p.Leu273Arg)
c.296T>G (p.Leu99Arg)
c.860T>G (p.Leu287Arg)
c.29T>G (p.Leu10Arg)
12g.51915270T=CA2036269433ACVRL1c.548T= (p.Leu183=)
c.818T= (p.Leu273=)
c.296T= (p.Leu99=)
c.860T= (p.Leu287=)
c.29T= (p.Leu10=)
12g.51915271G>ACA480063156ACVRL1c.549G>A (p.Leu183=)
c.819G>A (p.Leu273=)
c.297G>A (p.Leu99=)
c.861G>A (p.Leu287=)
c.30G>A (p.Leu10=)
12g.51915271G>CCA480063157ACVRL1c.549G>C (p.Leu183=)
c.819G>C (p.Leu273=)
c.297G>C (p.Leu99=)
c.861G>C (p.Leu287=)
c.30G>C (p.Leu10=)
12g.51915271G>TCA480063158ACVRL1c.549G>T (p.Leu183=)
c.819G>T (p.Leu273=)
c.297G>T (p.Leu99=)
c.861G>T (p.Leu287=)
c.30G>T (p.Leu10=)
12g.51915272T>ACA384900438ACVRL1c.550T>A (p.Trp184Arg)
c.820T>A (p.Trp274Arg)
c.298T>A (p.Trp100Arg)
c.862T>A (p.Trp288Arg)
c.31T>A (p.Trp11Arg)
12g.51915272T>CCA384900439ACVRL1c.550T>C (p.Trp184Arg)
c.820T>C (p.Trp274Arg)
c.298T>C (p.Trp100Arg)
c.862T>C (p.Trp288Arg)
c.31T>C (p.Trp11Arg)
12g.51915272T>GCA384900441ACVRL1c.550T>G (p.Trp184Gly)
c.820T>G (p.Trp274Gly)
c.298T>G (p.Trp100Gly)
c.862T>G (p.Trp288Gly)
c.31T>G (p.Trp11Gly)
12g.51915273_51915276dupCA2695216739ACVRL1c.551_554dup (p.Ile186AlafsTer?)
c.821_824dup (p.Ile276AlafsTer?)
c.299_302dup (p.Ile102AlafsTer?)
c.863_866dup (p.Ile290AlafsTer?)
c.32_35dup (p.Ile13AlafsTer?)
12g.51915273G>ACA384900443ACVRL1c.551G>A (p.Trp184Ter)
c.821G>A (p.Trp274Ter)
c.299G>A (p.Trp100Ter)
c.863G>A (p.Trp288Ter)
c.32G>A (p.Trp11Ter)
12g.51915273G>CCA384900445ACVRL1c.551G>C (p.Trp184Ser)
c.821G>C (p.Trp274Ser)
c.299G>C (p.Trp100Ser)
c.863G>C (p.Trp288Ser)
c.32G>C (p.Trp11Ser)
12g.51915273G>TCA384900446ACVRL1c.551G>T (p.Trp184Leu)
c.821G>T (p.Trp274Leu)
c.299G>T (p.Trp100Leu)
c.863G>T (p.Trp288Leu)
c.32G>T (p.Trp11Leu)
COSMIC COSMIC
12g.51915274G>ACA6573002ACVRL1c.552G>A (p.Trp184Ter)
c.822G>A (p.Trp274Ter)
c.300G>A (p.Trp100Ter)
c.864G>A (p.Trp288Ter)
c.33G>A (p.Trp11Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51915274G>CCA384900449ACVRL1c.552G>C (p.Trp184Cys)
c.822G>C (p.Trp274Cys)
c.300G>C (p.Trp100Cys)
c.864G>C (p.Trp288Cys)
c.33G>C (p.Trp11Cys)
12g.51915274G=CA2036269434ACVRL1c.552G= (p.Trp184=)
c.822G= (p.Trp274=)
c.300G= (p.Trp100=)
c.864G= (p.Trp288=)
c.33G= (p.Trp11=)
12g.51915274G>TCA384900451ACVRL1c.552G>T (p.Trp184Cys)
c.822G>T (p.Trp274Cys)
c.300G>T (p.Trp100Cys)
c.864G>T (p.Trp288Cys)
c.33G>T (p.Trp11Cys)
ClinVar dbSNP
12g.51915275C>ACA6573003ACVRL1c.553C>A (p.Leu185Ile)
c.823C>A (p.Leu275Ile)
c.301C>A (p.Leu101Ile)
c.865C>A (p.Leu289Ile)
c.34C>A (p.Leu12Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.51915275C=CA2036269435ACVRL1c.553C= (p.Leu185=)
c.823C= (p.Leu275=)
c.301C= (p.Leu101=)
c.865C= (p.Leu289=)
c.34C= (p.Leu12=)
12g.51915275C>GCA384900453ACVRL1c.553C>G (p.Leu185Val)
c.823C>G (p.Leu275Val)
c.301C>G (p.Leu101Val)
c.865C>G (p.Leu289Val)
c.34C>G (p.Leu12Val)
12g.51915275C>TCA384900455ACVRL1c.553C>T (p.Leu185Phe)
c.823C>T (p.Leu275Phe)
c.301C>T (p.Leu101Phe)
c.865C>T (p.Leu289Phe)
c.34C>T (p.Leu12Phe)
12g.51915276T>ACA384900457ACVRL1c.554T>A (p.Leu185His)
c.824T>A (p.Leu275His)
c.302T>A (p.Leu101His)
c.866T>A (p.Leu289His)
c.35T>A (p.Leu12His)
12g.51915276T>CCA384900458ACVRL1c.554T>C (p.Leu185Pro)
c.824T>C (p.Leu275Pro)
c.302T>C (p.Leu101Pro)
c.866T>C (p.Leu289Pro)
c.35T>C (p.Leu12Pro)
ClinVar
12g.51915276T>GCA384900456ACVRL1c.554T>G (p.Leu185Arg)
c.824T>G (p.Leu275Arg)
c.302T>G (p.Leu101Arg)
c.866T>G (p.Leu289Arg)
c.35T>G (p.Leu12Arg)
12g.51915277C>ACA480063159ACVRL1c.555C>A (p.Leu185=)
c.825C>A (p.Leu275=)
c.303C>A (p.Leu101=)
c.867C>A (p.Leu289=)
c.36C>A (p.Leu12=)
12g.51915277C=CA2036269436ACVRL1c.555C= (p.Leu185=)
c.825C= (p.Leu275=)
c.303C= (p.Leu101=)
c.867C= (p.Leu289=)
c.36C= (p.Leu12=)
12g.51915277C>GCA480063160ACVRL1c.555C>G (p.Leu185=)
c.825C>G (p.Leu275=)
c.303C>G (p.Leu101=)
c.867C>G (p.Leu289=)
c.36C>G (p.Leu12=)
12g.51915277C>TCA480063161ACVRL1c.555C>T (p.Leu185=)
c.825C>T (p.Leu275=)
c.303C>T (p.Leu101=)
c.867C>T (p.Leu289=)
c.36C>T (p.Leu12=)
dbSNP
12g.51915278A=CA2036269437ACVRL1c.556A= (p.Ile186=)
c.826A= (p.Ile276=)
c.304A= (p.Ile102=)
c.868A= (p.Ile290=)
c.37A= (p.Ile13=)
12g.51915278A>CCA236363985ACVRL1c.556A>C (p.Ile186Leu)
c.826A>C (p.Ile276Leu)
c.304A>C (p.Ile102Leu)
c.868A>C (p.Ile290Leu)
c.37A>C (p.Ile13Leu)
dbSNP
12g.51915278A>GCA384900460ACVRL1c.556A>G (p.Ile186Val)
c.826A>G (p.Ile276Val)
c.304A>G (p.Ile102Val)
c.868A>G (p.Ile290Val)
c.37A>G (p.Ile13Val)
12g.51915278A>TCA384900461ACVRL1c.556A>T (p.Ile186Phe)
c.826A>T (p.Ile276Phe)
c.304A>T (p.Ile102Phe)
c.868A>T (p.Ile290Phe)
c.37A>T (p.Ile13Phe)
12g.51915279T>ACA384900463ACVRL1c.557T>A (p.Ile186Asn)
c.827T>A (p.Ile276Asn)
c.305T>A (p.Ile102Asn)
c.869T>A (p.Ile290Asn)
c.38T>A (p.Ile13Asn)
12g.51915279T>CCA384900465ACVRL1c.557T>C (p.Ile186Thr)
c.827T>C (p.Ile276Thr)
c.305T>C (p.Ile102Thr)
c.869T>C (p.Ile290Thr)
c.38T>C (p.Ile13Thr)
12g.51915279T>GCA384900467ACVRL1c.557T>G (p.Ile186Ser)
c.827T>G (p.Ile276Ser)
c.305T>G (p.Ile102Ser)
c.869T>G (p.Ile290Ser)
c.38T>G (p.Ile13Ser)
12g.51915280C>ACA480063162ACVRL1c.558C>A (p.Ile186=)
c.828C>A (p.Ile276=)
c.306C>A (p.Ile102=)
c.870C>A (p.Ile290=)
c.39C>A (p.Ile13=)
12g.51915280C=CA2036269438ACVRL1c.558C= (p.Ile186=)
c.828C= (p.Ile276=)
c.306C= (p.Ile102=)
c.870C= (p.Ile290=)
c.39C= (p.Ile13=)
12g.51915280C>GCA384900468ACVRL1c.558C>G (p.Ile186Met)
c.828C>G (p.Ile276Met)
c.306C>G (p.Ile102Met)
c.870C>G (p.Ile290Met)
c.39C>G (p.Ile13Met)
12g.51915280C>TCA236363986ACVRL1c.558C>T (p.Ile186=)
c.828C>T (p.Ile276=)
c.306C>T (p.Ile102=)
c.870C>T (p.Ile290=)
c.39C>T (p.Ile13=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.51915281A=CA2036269439ACVRL1c.559A= (p.Thr187=)
c.829A= (p.Thr277=)
c.307A= (p.Thr103=)
c.871A= (p.Thr291=)
c.40A= (p.Thr14=)

Number of alleles fetched