Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
1	g.99864492_99864495del	CA2574444291	AGL	c.567_570del (p.Asn189LysfsTer11) n.778_781del c.519_522del (p.Asn173LysfsTer11) c.516_519del (p.Asn172LysfsTer11)
1	g.99864495A>C	CA341335880	AGL	c.570A>C (p.Arg190Ser) n.781A>C c.522A>C (p.Arg174Ser) c.519A>C (p.Arg173Ser)
1	g.99864495A>G	CA419096193	AGL	c.570A>G (p.Arg190=) n.781A>G c.522A>G (p.Arg174=) c.519A>G (p.Arg173=)	ClinVar
1	g.99864495A>T	CA341335887	AGL	c.570A>T (p.Arg190Ser) n.781A>T c.522A>T (p.Arg174Ser) c.519A>T (p.Arg173Ser)
1	g.99864496A>C	CA341335890	AGL	c.571A>C (p.Lys191Gln) n.782A>C c.523A>C (p.Lys175Gln) c.520A>C (p.Lys174Gln)
1	g.99864496A>G	CA341335892	AGL	c.571A>G (p.Lys191Glu) n.782A>G c.523A>G (p.Lys175Glu) c.520A>G (p.Lys174Glu)	gnomAD v4
1	g.99864496A>T	CA341335895	AGL	c.571A>T (p.Lys191Ter) n.782A>T c.523A>T (p.Lys175Ter) c.520A>T (p.Lys174Ter)
1	g.99864497A=	CA1183926487	AGL	c.572A= (p.Lys191=) n.783A= c.524A= (p.Lys175=) c.521A= (p.Lys174=)
1	g.99864497A>C	CA341335906	AGL	c.572A>C (p.Lys191Thr) n.783A>C c.524A>C (p.Lys175Thr) c.521A>C (p.Lys174Thr)
1	g.99864497A>G	CA341335910	AGL	c.572A>G (p.Lys191Arg) n.783A>G c.524A>G (p.Lys175Arg) c.521A>G (p.Lys174Arg)	dbSNP gnomAD v2 gnomAD v4
1	g.99864497A>T	CA341335919	AGL	c.572A>T (p.Lys191Met) n.783A>T c.524A>T (p.Lys175Met) c.521A>T (p.Lys174Met)
1	g.99864498G>A	CA966210	AGL	c.573G>A (p.Lys191=) n.784G>A c.525G>A (p.Lys175=) c.522G>A (p.Lys174=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.99864498G>C	CA966209	AGL	c.573G>C (p.Lys191Asn) n.784G>C c.525G>C (p.Lys175Asn) c.522G>C (p.Lys174Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.99864498G=	CA1183926494	AGL	c.573G= (p.Lys191=) n.784G= c.525G= (p.Lys175=) c.522G= (p.Lys174=)
1	g.99864498G>T	CA341335925	AGL	c.573G>T (p.Lys191Asn) n.784G>T c.525G>T (p.Lys175Asn) c.522G>T (p.Lys174Asn)
1	g.99864499T>A	CA341335928	AGL	c.574T>A (p.Tyr192Asn) n.785T>A c.526T>A (p.Tyr176Asn) c.523T>A (p.Tyr175Asn)
1	g.99864499T>C	CA341335932	AGL	c.574T>C (p.Tyr192His) n.785T>C c.526T>C (p.Tyr176His) c.523T>C (p.Tyr175His)
1	g.99864499T>G	CA341335937	AGL	c.574T>G (p.Tyr192Asp) n.785T>G c.526T>G (p.Tyr176Asp) c.523T>G (p.Tyr175Asp)
1	g.99864500A=	CA1183926498	AGL	c.575A= (p.Tyr192=) n.786A= c.527A= (p.Tyr176=) c.524A= (p.Tyr175=)
1	g.99864500A>C	CA341335940	AGL	c.575A>C (p.Tyr192Ser) n.786A>C c.527A>C (p.Tyr176Ser) c.524A>C (p.Tyr175Ser)	gnomAD v4
1	g.99864500A>G	CA341335941	AGL	c.575A>G (p.Tyr192Cys) n.786A>G c.527A>G (p.Tyr176Cys) c.524A>G (p.Tyr175Cys)	dbSNP gnomAD v2 gnomAD v4
1	g.99864500A>T	CA341335942	AGL	c.575A>T (p.Tyr192Phe) n.786A>T c.527A>T (p.Tyr176Phe) c.524A>T (p.Tyr175Phe)
1	g.99864501T>A	CA341335944	AGL	c.576T>A (p.Tyr192Ter) n.787T>A c.528T>A (p.Tyr176Ter) c.525T>A (p.Tyr175Ter)
1	g.99864501T>C	CA419096196	AGL	c.576T>C (p.Tyr192=) n.787T>C c.528T>C (p.Tyr176=) c.525T>C (p.Tyr175=)	gnomAD v4
1	g.99864501T>G	CA341335951	AGL	c.576T>G (p.Tyr192Ter) n.787T>G c.528T>G (p.Tyr176Ter) c.525T>G (p.Tyr175Ter)	ClinVar dbSNP
1	g.99864501T=	CA1183926500	AGL	c.576T= (p.Tyr192=) n.787T= c.528T= (p.Tyr176=) c.525T= (p.Tyr175=)
1	g.99864502A>C	CA341335956	AGL	c.577A>C (p.Thr193Pro) n.788A>C c.529A>C (p.Thr177Pro) c.526A>C (p.Thr176Pro)
1	g.99864502A>G	CA341335958	AGL	c.577A>G (p.Thr193Ala) n.788A>G c.529A>G (p.Thr177Ala) c.526A>G (p.Thr176Ala)	COSMIC COSMIC
1	g.99864502A>T	CA341335960	AGL	c.577A>T (p.Thr193Ser) n.788A>T c.529A>T (p.Thr177Ser) c.526A>T (p.Thr176Ser)
1	g.99864503C>A	CA341335971	AGL	c.578C>A (p.Thr193Asn) n.789C>A c.530C>A (p.Thr177Asn) c.527C>A (p.Thr176Asn)	gnomAD v4
1	g.99864503C=	CA1183926502	AGL	c.578C= (p.Thr193=) n.789C= c.530C= (p.Thr177=) c.527C= (p.Thr176=)
1	g.99864503C>G	CA341335973	AGL	c.578C>G (p.Thr193Ser) n.789C>G c.530C>G (p.Thr177Ser) c.527C>G (p.Thr176Ser)
1	g.99864503C>T	CA341335987	AGL	c.578C>T (p.Thr193Ile) n.789C>T c.530C>T (p.Thr177Ile) c.527C>T (p.Thr176Ile)	dbSNP
1	g.99864504del	CA2573132619	AGL	c.579del (p.Trp194GlyfsTer7) n.790del c.531del (p.Trp178GlyfsTer7) c.528del (p.Trp177GlyfsTer7)	ClinVar dbSNP
1	g.99864504C>A	CA419096200	AGL	c.579C>A (p.Thr193=) n.790C>A c.531C>A (p.Thr177=) c.528C>A (p.Thr176=)
1	g.99864504C=	CA1183926504	AGL	c.579C= (p.Thr193=) n.790C= c.531C= (p.Thr177=) c.528C= (p.Thr176=)
1	g.99864504C>G	CA419096199	AGL	c.579C>G (p.Thr193=) n.790C>G c.531C>G (p.Thr177=) c.528C>G (p.Thr176=)	dbSNP gnomAD v2
1	g.99864504C>T	CA419096198	AGL	c.579C>T (p.Thr193=) n.790C>T c.531C>T (p.Thr177=) c.528C>T (p.Thr176=)
1	g.99864505T>A	CA341336000	AGL	c.580T>A (p.Trp194Arg) n.791T>A c.532T>A (p.Trp178Arg) c.529T>A (p.Trp177Arg)
1	g.99864505T>C	CA341335997	AGL	c.580T>C (p.Trp194Arg) n.791T>C c.532T>C (p.Trp178Arg) c.529T>C (p.Trp177Arg)
1	g.99864505T>G	CA341335994	AGL	c.580T>G (p.Trp194Gly) n.791T>G c.532T>G (p.Trp178Gly) c.529T>G (p.Trp177Gly)
1	g.99864505_99864506delinsTG	CA1183926506	AGL	c.580_581delinsTG (p.Trp194=) n.791_792delinsTG c.532_533delinsTG (p.Trp178=) c.529_530delinsTG (p.Trp177=)
1	g.99864506G>A	CA341336001	AGL	c.581G>A (p.Trp194Ter) n.792G>A c.533G>A (p.Trp178Ter) c.530G>A (p.Trp177Ter)	COSMIC COSMIC
1	g.99864506G>C	CA341336002	AGL	c.581G>C (p.Trp194Ser) n.792G>C c.533G>C (p.Trp178Ser) c.530G>C (p.Trp177Ser)
1	g.99864506G>T	CA341336003	AGL	c.581G>T (p.Trp194Leu) n.792G>T c.533G>T (p.Trp178Leu) c.530G>T (p.Trp177Leu)
1	g.99864507del	CA1183926509	AGL	c.582del (p.Trp194Ter) n.793del c.534del (p.Trp178Ter) c.531del (p.Trp177Ter)	ClinVar dbSNP gnomAD v4
1	g.99864507G>A	CA341336007	AGL	c.582G>A (p.Trp194Ter) n.793G>A c.534G>A (p.Trp178Ter) c.531G>A (p.Trp177Ter)	gnomAD v4
1	g.99864507G>C	CA341336010	AGL	c.582G>C (p.Trp194Cys) n.793G>C c.534G>C (p.Trp178Cys) c.531G>C (p.Trp177Cys)
1	g.99864507G>T	CA341336012	AGL	c.582G>T (p.Trp194Cys) n.793G>T c.534G>T (p.Trp178Cys) c.531G>T (p.Trp177Cys)
1	g.99864508A>C	CA341336020	AGL	c.583A>C (p.Asn195His) n.794A>C c.535A>C (p.Asn179His) c.532A>C (p.Asn178His)

Number of alleles fetched