Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.73193180T>A	CA502026693	COG1	c.111T>A (p.Val37=) c.109T>A c.88T>A
17	g.73193180T>C	CA502026694	COG1	c.111T>C (p.Val37=) c.109T>C c.88T>C
17	g.73193180T>G	CA502026695	COG1	c.111T>G (p.Val37=) c.109T>G c.88T>G
17	g.73193181C>A	CA502026696	COG1	c.112C>A (p.Arg38=) c.110C>A c.89C>A
17	g.73193181C>G	CA400879114	COG1	c.112C>G (p.Arg38Gly) c.110C>G c.89C>G
17	g.73193181C>T	CA400879115	COG1	c.112C>T (p.Arg38Trp) c.110C>T c.89C>T	gnomAD v4 COSMIC
17	g.73193182G>A	CA293796952	COG1	c.113G>A (p.Arg38Gln) c.111G>A c.90G>A	dbSNP gnomAD v2 gnomAD v4
17	g.73193182G>C	CA400879116	COG1	c.113G>C (p.Arg38Pro) c.111G>C c.90G>C
17	g.73193182G=	CA2274430316	COG1	c.113G= (p.Arg38=) c.111G= c.90G=
17	g.73193182G>T	CA8739891	COG1	c.113G>T (p.Arg38Leu) c.111G>T c.90G>T	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.73193184del	CA2639622150	COG1	c.115del (p.Ala39ProfsTer21) c.113del c.92del	gnomAD v4
17	g.73193183G>A	CA502026697	COG1	c.114G>A (p.Arg38=) c.112G>A c.91G>A	dbSNP gnomAD v2
17	g.73193183G>C	CA502026698	COG1	c.114G>C (p.Arg38=) c.112G>C c.91G>C	dbSNP gnomAD v2 gnomAD v4
17	g.73193183G=	CA2274430317	COG1	c.114G= (p.Arg38=) c.112G= c.91G=
17	g.73193183G>T	CA502026699	COG1	c.114G>T (p.Arg38=) c.112G>T c.91G>T
17	g.73193184G>A	CA400879117	COG1	c.115G>A (p.Ala39Thr) c.113G>A c.92G>A	gnomAD v4
17	g.73193184G>C	CA400879118	COG1	c.115G>C (p.Ala39Pro) c.113G>C c.92G>C
17	g.73193184G>T	CA400879119	COG1	c.115G>T (p.Ala39Ser) c.113G>T c.92G>T
17	g.73193185C>A	CA400879120	COG1	c.116C>A (p.Ala39Asp) c.114C>A c.93C>A	dbSNP gnomAD v2 gnomAD v4
17	g.73193185C=	CA2274430318	COG1	c.116C= (p.Ala39=) c.114C= c.93C=
17	g.73193185C>G	CA400879121	COG1	c.116C>G (p.Ala39Gly) c.114C>G c.93C>G
17	g.73193185C>T	CA400879122	COG1	c.116C>T (p.Ala39Val) c.114C>T c.93C>T	gnomAD v4
17	g.73193186C>A	CA502026700	COG1	c.117C>A (p.Ala39=) c.115C>A c.94C>A	gnomAD v4
17	g.73193186C=	CA2274430319	COG1	c.117C= (p.Ala39=) c.115C= c.94C=
17	g.73193186C>G	CA502026701	COG1	c.117C>G (p.Ala39=) c.115C>G c.94C>G	dbSNP gnomAD v3 gnomAD v4
17	g.73193186C>T	CA502026702	COG1	c.117C>T (p.Ala39=) c.115C>T c.94C>T	ClinVar gnomAD v4
17	g.73193187G>A	CA400879125	COG1	c.118G>A (p.Glu40Lys) c.116G>A c.95G>A
17	g.73193187G>C	CA400879123	COG1	c.118G>C (p.Glu40Gln) c.116G>C c.95G>C
17	g.73193187G>T	CA400879124	COG1	c.118G>T (p.Glu40Ter) c.116G>T c.95G>T
17	g.73193188A>C	CA400879126	COG1	c.119A>C (p.Glu40Ala) c.117A>C c.96A>C
17	g.73193188A>G	CA400879127	COG1	c.119A>G (p.Glu40Gly) c.117A>G c.96A>G
17	g.73193188A>T	CA400879128	COG1	c.119A>T (p.Glu40Val) c.117A>T c.96A>T
17	g.73193189G>A	CA502026703	COG1	c.120G>A (p.Glu40=) c.118G>A c.97G>A
17	g.73193189G>C	CA400879129	COG1	c.120G>C (p.Glu40Asp) c.118G>C c.97G>C
17	g.73193189G=	CA2274430320	COG1	c.120G= (p.Glu40=) c.118G= c.97G=
17	g.73193189G>T	CA400879130	COG1	c.120G>T (p.Glu40Asp) c.118G>T c.97G>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.73193190A>C	CA400879133	COG1	c.121A>C (p.Ile41Leu) c.119A>C c.98A>C
17	g.73193190A>G	CA400879131	COG1	c.121A>G (p.Ile41Val) c.119A>G c.98A>G
17	g.73193190A>T	CA400879132	COG1	c.121A>T (p.Ile41Phe) c.119A>T c.98A>T
17	g.73193191T>A	CA400879134	COG1	c.122T>A (p.Ile41Asn) c.120T>A c.99T>A
17	g.73193191T>C	CA400879135	COG1	c.122T>C (p.Ile41Thr) c.120T>C c.99T>C
17	g.73193191T>G	CA400879136	COG1	c.122T>G (p.Ile41Ser) c.120T>G c.99T>G
17	g.73193192C>A	CA502026705	COG1	c.123C>A (p.Ile41=) c.121C>A c.100C>A
17	g.73193192C>G	CA400879137	COG1	c.123C>G (p.Ile41Met) c.121C>G c.100C>G	gnomAD v4
17	g.73193192C>T	CA502026704	COG1	c.123C>T (p.Ile41=) c.121C>T c.100C>T	gnomAD v4
17	g.73193193G>A	CA400879138	COG1	c.124G>A (p.Glu42Lys) c.122G>A c.101G>A	gnomAD v4
17	g.73193193G>C	CA400879139	COG1	c.124G>C (p.Glu42Gln) c.122G>C c.101G>C
17	g.73193193G>T	CA400879140	COG1	c.124G>T (p.Glu42Ter) c.122G>T c.101G>T	gnomAD v4
17	g.73193194A=	CA2274430321	COG1	c.125A= (p.Glu42=) c.123A= c.102A=
17	g.73193194A>C	CA293796959	COG1	c.125A>C (p.Glu42Ala) c.123A>C c.102A>C	ClinVar dbSNP

Number of alleles fetched