Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.157774126C>A	CA128484	ACVR1	c.605G>T (p.Arg202Ile) n.622G>T	ClinVar dbSNP
2	g.157774126C=	CA1301099882	ACVR1	c.605G= (p.Arg202=) n.622G=
2	g.157774126C>G	CA349192569	ACVR1	c.605G>C (p.Arg202Thr) n.622G>C
2	g.157774126C>T	CA349192570	ACVR1	c.605G>A (p.Arg202Lys) n.622G>A
2	g.157774126_157774127delinsTC	CA2580064110	ACVR1	c.604_605delinsGA (p.Arg202Glu) n.621_622delinsGA	ClinVar
2	g.157774127T>A	CA349192571	ACVR1	c.604A>T (p.Arg202Ter) n.621A>T
2	g.157774127T>C	CA349192572	ACVR1	c.604A>G (p.Arg202Gly) n.621A>G
2	g.157774127T>G	CA429594373	ACVR1	c.604A>C (p.Arg202=) n.621A>C
2	g.157774128T>A	CA349192573	ACVR1	c.603A>T (p.Gln201His) n.620A>T
2	g.157774128T>C	CA59280438	ACVR1	c.603A>G (p.Gln201=) n.620A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.157774128T>G	CA349192574	ACVR1	c.603A>C (p.Gln201His) n.620A>C
2	g.157774128T=	CA1301099883	ACVR1	c.603A= (p.Gln201=) n.620A=
2	g.157774129T>A	CA349192575	ACVR1	c.602A>T (p.Gln201Leu) n.619A>T
2	g.157774129T>C	CA349192576	ACVR1	c.602A>G (p.Gln201Arg) n.619A>G
2	g.157774129T>G	CA349192577	ACVR1	c.602A>C (p.Gln201Pro) n.619A>C
2	g.157774130G>A	CA349192578	ACVR1	c.601C>T (p.Gln201Ter) n.618C>T	dbSNP
2	g.157774130G>C	CA349192579	ACVR1	c.601C>G (p.Gln201Glu) n.618C>G
2	g.157774130G=	CA1301099884	ACVR1	c.601C= (p.Gln201=) n.618C=
2	g.157774130G>T	CA349192581	ACVR1	c.601C>A (p.Gln201Lys) n.618C>A
2	g.157774131T>A	CA429594374	ACVR1	c.600A>T (p.Val200=) n.617A>T
2	g.157774131T>C	CA429594375	ACVR1	c.600A>G (p.Val200=) n.617A>G
2	g.157774131T>G	CA429594376	ACVR1	c.600A>C (p.Val200=) n.617A>C
2	g.157774132A>C	CA349192582	ACVR1	c.599T>G (p.Val200Gly) n.616T>G	gnomAD v4
2	g.157774132A>G	CA349192583	ACVR1	c.599T>C (p.Val200Ala) n.616T>C
2	g.157774132A>T	CA349192584	ACVR1	c.599T>A (p.Val200Glu) n.616T>A
2	g.157774133C>A	CA349192587	ACVR1	c.598G>T (p.Val200Leu) n.615G>T
2	g.157774133C=	CA1301099885	ACVR1	c.598G= (p.Val200=) n.615G=
2	g.157774133C>G	CA349192586	ACVR1	c.598G>C (p.Val200Leu) n.615G>C	dbSNP
2	g.157774133C>T	CA349192585	ACVR1	c.598G>A (p.Val200Ile) n.615G>A
2	g.157774134C>A	CA429594377	ACVR1	c.597G>T (p.Leu199=) n.614G>T	COSMIC
2	g.157774134C>G	CA429594378	ACVR1	c.597G>C (p.Leu199=) n.614G>C
2	g.157774134C>T	CA429594379	ACVR1	c.597G>A (p.Leu199=) n.614G>A
2	g.157774135A>C	CA349192588	ACVR1	c.596T>G (p.Leu199Arg) n.613T>G
2	g.157774135A>G	CA349192589	ACVR1	c.596T>C (p.Leu199Pro) n.613T>C
2	g.157774135A>T	CA349192590	ACVR1	c.596T>A (p.Leu199Gln) n.613T>A
2	g.157774136G>A	CA429594380	ACVR1	c.595C>T (p.Leu199=) n.612C>T	COSMIC
2	g.157774136G>C	CA349192591	ACVR1	c.595C>G (p.Leu199Val) n.612C>G
2	g.157774136G>T	CA349192592	ACVR1	c.595C>A (p.Leu199Met) n.612C>A
2	g.157774137A>C	CA349192593	ACVR1	c.594T>G (p.Phe198Leu) n.611T>G
2	g.157774137A>G	CA429594381	ACVR1	c.594T>C (p.Phe198=) n.611T>C
2	g.157774137A>T	CA349192594	ACVR1	c.594T>A (p.Phe198Leu) n.611T>A
2	g.157774138A>C	CA349192595	ACVR1	c.593T>G (p.Phe198Cys) n.610T>G
2	g.157774138A>G	CA349192596	ACVR1	c.593T>C (p.Phe198Ser) n.610T>C
2	g.157774138A>T	CA349192597	ACVR1	c.593T>A (p.Phe198Tyr) n.610T>A
2	g.157774139A>C	CA349192598	ACVR1	c.592T>G (p.Phe198Val) n.609T>G
2	g.157774139A>G	CA349192599	ACVR1	c.592T>C (p.Phe198Leu) n.609T>C
2	g.157774139A>T	CA349192600	ACVR1	c.592T>A (p.Phe198Ile) n.609T>A
2	g.157774139_157774141del	CA2586970378	ACVR1	c.590_592del (p.Pro197_Phe198delinsLeu) n.607_609del
2	g.157774139_157774141delinsAAG	CA2573335048	ACVR1	c.590_592delinsCTT (p.Pro197=) n.607_609delinsCTT
2	g.157774140A>C	CA429594382	ACVR1	c.591T>G (p.Pro197=) n.608T>G

Number of alleles fetched