Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.2159842_2161516del	CA344912
11	g.2160778G>A	CA1948026969	INS,INS-IGF2	c.187+7C>T (n.187+7C>T) n.246+7C>T	dbSNP
11	g.2160778G=	CA1948026968	INS,INS-IGF2	c.187+7C= (n.187+7C=) n.246+7C=
11	g.2160779G>A	CA5818172	INS,INS-IGF2	c.187+6C>T (n.187+6C>T) n.246+6C>T	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.2160779G>C	CA5818173	INS,INS-IGF2	c.187+6C>G (n.187+6C>G) n.246+6C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2160779G=	CA1948026971	INS,INS-IGF2	c.187+6C= (n.187+6C=) n.246+6C=
11	g.2160782C=	CA1948026974	INS,INS-IGF2	c.187+3G= (n.187+3G=) n.246+3G=
11	g.2160782C>T	CA5818174	INS,INS-IGF2	c.187+3G>A (n.187+3G>A) n.246+3G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2160783A>C	CA379121126	INS,INS-IGF2	c.187+2T>G (n.187+2T>G) n.246+2T>G
11	g.2160783A>G	CA379121116	INS,INS-IGF2	c.187+2T>C (n.187+2T>C) n.246+2T>C
11	g.2160783A>T	CA379121124	INS,INS-IGF2	c.187+2T>A (n.187+2T>A) n.246+2T>A
11	g.2160784C>A	CA379121129	INS,INS-IGF2	c.187+1G>T (n.187+1G>T) n.246+1G>T
11	g.2160784C>G	CA379121131	INS,INS-IGF2	c.187+1G>C (n.187+1G>C) n.246+1G>C	gnomAD v4
11	g.2160784C>T	CA379121141	INS,INS-IGF2	c.187+1G>A (n.187+1G>A) n.246+1G>A
11	g.2160785C>A	CA5818175	INS,INS-IGF2	c.187G>T (p.Val63Leu) c.187G>T (p.Ala63Ser) c.187G>T (p.Gly63Cys) n.246G>T	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.2160785C=	CA1948026975	INS,INS-IGF2	c.187G= (p.Val63=) c.187G= (p.Ala63=) c.187G= (p.Gly63=) n.246G=
11	g.2160785C>G	CA379121152	INS,INS-IGF2	c.187G>C (p.Val63Leu) c.187G>C (p.Ala63Pro) c.187G>C (p.Gly63Arg) n.246G>C
11	g.2160785C>T	CA379121153	INS,INS-IGF2	c.187G>A (p.Val63Met) c.187G>A (p.Ala63Thr) c.187G>A (p.Gly63Ser) n.246G>A
11	g.2160786C>A	CA379121155	INS,INS-IGF2	c.186G>T (p.Gln62His) n.245G>T
11	g.2160786C=	CA1948026978	INS,INS-IGF2	c.186G= (p.Gln62=) n.245G=
11	g.2160786C>G	CA379121157	INS,INS-IGF2	c.186G>C (p.Gln62His) n.245G>C
11	g.2160786C>T	CA472031683	INS,INS-IGF2	c.186G>A (p.Gln62=) n.245G>A	dbSNP gnomAD v3 gnomAD v4
11	g.2160787T>A	CA379121168	INS,INS-IGF2	c.185A>T (p.Gln62Leu) n.244A>T
11	g.2160787T>C	CA379121171	INS,INS-IGF2	c.185A>G (p.Gln62Arg) n.244A>G	gnomAD v4
11	g.2160787T>G	CA379121173	INS,INS-IGF2	c.185A>C (p.Gln62Pro) n.244A>C
11	g.2160788G>A	CA379121186	INS,INS-IGF2	c.184C>T (p.Gln62Ter) n.243C>T
11	g.2160788G>C	CA379121184	INS,INS-IGF2	c.184C>G (p.Gln62Glu) n.243C>G
11	g.2160788G>T	CA379121178	INS,INS-IGF2	c.184C>A (p.Gln62Lys) n.243C>A	gnomAD v4
11	g.2160789C>A	CA472031691	INS,INS-IGF2	c.183G>T (p.Leu61=) n.242G>T
11	g.2160789C>G	CA472031693	INS,INS-IGF2	c.183G>C (p.Leu61=) n.242G>C
11	g.2160789C>T	CA472031694	INS,INS-IGF2	c.183G>A (p.Leu61=) n.242G>A
11	g.2160790A>C	CA379121189	INS,INS-IGF2	c.182T>G (p.Leu61Arg) n.241T>G
11	g.2160790A>G	CA379121194	INS,INS-IGF2	c.182T>C (p.Leu61Pro) n.241T>C
11	g.2160790A>T	CA379121192	INS,INS-IGF2	c.182T>A (p.Leu61Gln) n.241T>A
11	g.2160791G>A	CA472031699	INS,INS-IGF2	c.181C>T (p.Leu61=) n.240C>T
11	g.2160791G>C	CA379121212	INS,INS-IGF2	c.181C>G (p.Leu61Val) n.240C>G
11	g.2160791G>T	CA379121221	INS,INS-IGF2	c.181C>A (p.Leu61Met) n.240C>A	gnomAD v4
11	g.2160792G>A	CA472031702	INS,INS-IGF2	c.180C>T (p.Asp60=) n.239C>T	dbSNP gnomAD v2 gnomAD v4
11	g.2160792G>C	CA379121226	INS,INS-IGF2	c.180C>G (p.Asp60Glu) n.239C>G
11	g.2160792G=	CA1948026979	INS,INS-IGF2	c.180C= (p.Asp60=) n.239C=
11	g.2160792G>T	CA379121227	INS,INS-IGF2	c.180C>A (p.Asp60Glu) n.239C>A	dbSNP gnomAD v3 gnomAD v4
11	g.2160793T>A	CA379121228	INS,INS-IGF2	c.179A>T (p.Asp60Val) n.238A>T
11	g.2160793T>C	CA379121229	INS,INS-IGF2	c.179A>G (p.Asp60Gly) n.238A>G	dbSNP
11	g.2160793T>G	CA379121230	INS,INS-IGF2	c.179A>C (p.Asp60Ala) n.238A>C
11	g.2160794C>A	CA216276236	INS,INS-IGF2	c.178G>T (p.Asp60Tyr) n.237G>T	dbSNP gnomAD v2 gnomAD v4
11	g.2160794C=	CA1948026980	INS,INS-IGF2	c.178G= (p.Asp60=) n.237G=
11	g.2160794C>G	CA379121236	INS,INS-IGF2	c.178G>C (p.Asp60His) n.237G>C
11	g.2160794C>T	CA379121242	INS,INS-IGF2	c.178G>A (p.Asp60Asn) n.237G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.2160795C>A	CA379121245	INS,INS-IGF2	c.177G>T (p.Glu59Asp) n.236G>T
11	g.2160795C>G	CA379121249	INS,INS-IGF2	c.177G>C (p.Glu59Asp) n.236G>C

Number of alleles fetched