Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.49909242A=	CA2410562570	ALG12	c.768+2T= (n.768+2T=) c.299+2T=
22	g.49909242A>C	CA412074492	ALG12	c.768+2T>G (n.768+2T>G) c.299+2T>G	dbSNP gnomAD v2
22	g.49909242A>G	CA412074493	ALG12	c.768+2T>C (n.768+2T>C) c.299+2T>C	gnomAD v4
22	g.49909242A>T	CA412074491	ALG12	c.768+2T>A (n.768+2T>A) c.299+2T>A
22	g.49909242_49909243delinsAC	CA2410562569	ALG12	c.768+1_768+2delinsGT (n.768+1_768+2delinsGT) c.299+1_299+2delinsGT
22	g.49909243C>A	CA412074494	ALG12	c.768+1G>T (n.768+1G>T) c.299+1G>T	gnomAD v4
22	g.49909243C=	CA2410562571	ALG12	c.768+1G= (n.768+1G=) c.299+1G=
22	g.49909243C>G	CA412074495	ALG12	c.768+1G>C (n.768+1G>C) c.299+1G>C	gnomAD v4
22	g.49909243C>T	CA10300487	ALG12	c.768+1G>A (n.768+1G>A) c.299+1G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49909248dup	CA10300486	ALG12	c.768+1dup c.299+1dup	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49909248del	CA640014109	ALG12	c.768+1del c.299+1del	dbSNP gnomAD v2 gnomAD v4
22	g.49909244C>A	CA514983529	ALG12	c.768G>T (p.Gly256=) c.299G>T
22	g.49909244C>G	CA514983530	ALG12	c.768G>C (p.Gly256=) c.299G>C
22	g.49909244C>T	CA514983528	ALG12	c.768G>A (p.Gly256=) c.299G>A	COSMIC
22	g.49909245C>A	CA412074498	ALG12	c.767G>T (p.Gly256Val) c.298G>T
22	g.49909245C=	CA2410562572	ALG12	c.767G= (p.Gly256=) c.298G=
22	g.49909245C>G	CA412074497	ALG12	c.767G>C (p.Gly256Ala) c.298G>C	dbSNP
22	g.49909245C>T	CA412074496	ALG12	c.767G>A (p.Gly256Glu) c.298G>A	dbSNP gnomAD v2 gnomAD v4
22	g.49909246C>A	CA412074499	ALG12	c.766G>T (p.Gly256Trp) c.297G>T
22	g.49909246C=	CA2410562573	ALG12	c.766G= (p.Gly256=) c.297G=
22	g.49909246C>G	CA412074500	ALG12	c.766G>C (p.Gly256Arg) c.297G>C	dbSNP gnomAD v4
22	g.49909246C>T	CA412074501	ALG12	c.766G>A (p.Gly256Arg) c.297G>A	dbSNP COSMIC
22	g.49909247C>A	CA412074502	ALG12	c.765G>T (p.Trp255Cys) c.296G>T
22	g.49909247C=	CA2410562574	ALG12	c.765G= (p.Trp255=) c.296G=
22	g.49909247C>G	CA412074503	ALG12	c.765G>C (p.Trp255Cys) c.296G>C	dbSNP gnomAD v3 gnomAD v4
22	g.49909247C>T	CA412074504	ALG12	c.765G>A (p.Trp255Ter) c.296G>A	gnomAD v4
22	g.49909248C>A	CA325427455	ALG12	c.764G>T (p.Trp255Leu) c.295G>T	ClinVar dbSNP gnomAD v4
22	g.49909248C=	CA2410562575	ALG12	c.764G= (p.Trp255=) c.295G=
22	g.49909248C>G	CA412074505	ALG12	c.764G>C (p.Trp255Ser) c.295G>C
22	g.49909248C>T	CA10300488	ALG12	c.764G>A (p.Trp255Ter) c.295G>A	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49909249A=	CA2410562576	ALG12	c.763T= (p.Trp255=) c.294T=
22	g.49909249A>C	CA412074506	ALG12	c.763T>G (p.Trp255Gly) c.294T>G
22	g.49909249A>G	CA10300489	ALG12	c.763T>C (p.Trp255Arg) c.294T>C	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49909249A>T	CA412074507	ALG12	c.763T>A (p.Trp255Arg) c.294T>A
22	g.49909250G>A	CA10300491	ALG12	c.762C>T (p.Asn254=) c.293C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49909250G>C	CA412074508	ALG12	c.762C>G (p.Asn254Lys) c.293C>G
22	g.49909250G=	CA2410562577	ALG12	c.762C= (p.Asn254=) c.293C=
22	g.49909250G>T	CA10300490	ALG12	c.762C>A (p.Asn254Lys) c.293C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49909251T>A	CA412074510	ALG12	c.761A>T (p.Asn254Ile) c.292A>T
22	g.49909251T>C	CA412074509	ALG12	c.761A>G (p.Asn254Ser) c.292A>G
22	g.49909251T>G	CA10300492	ALG12	c.761A>C (p.Asn254Thr) c.292A>C	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49909251T=	CA2410562578	ALG12	c.761A= (p.Asn254=) c.292A=
22	g.49909252T>A	CA412074511	ALG12	c.760A>T (p.Asn254Tyr) c.291A>T
22	g.49909252T>C	CA412074512	ALG12	c.760A>G (p.Asn254Asp) c.291A>G	gnomAD v4
22	g.49909252T>G	CA412074513	ALG12	c.760A>C (p.Asn254His) c.291A>C
22	g.49909253G>A	CA514983535	ALG12	c.759C>T (p.Ser253=) c.290C>T
22	g.49909253G>C	CA514983537	ALG12	c.759C>G (p.Ser253=) c.290C>G
22	g.49909253G>T	CA514983538	ALG12	c.759C>A (p.Ser253=) c.290C>A
22	g.49909254G>A	CA412074514	ALG12	c.758C>T (p.Ser253Phe) c.289C>T	dbSNP gnomAD v2 gnomAD v4
22	g.49909254G>C	CA412074515	ALG12	c.758C>G (p.Ser253Cys) c.289C>G

Number of alleles fetched