Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.68759476G>A	CA2574903027	CPT1A	c.2235+93C>T (n.2235+93C>T) c.2331+93C>T (n.2331+93C>T)	gnomAD v4
11	g.68759476G>T	CA2614740142	CPT1A	c.2235+93C>A (n.2235+93C>A) c.2331+93C>A (n.2331+93C>A)	gnomAD v4
11	g.68759478dup	CA223365610	CPT1A	c.2235+91dup (n.2235+91dup) c.2331+91dup (n.2331+91dup)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.68759479T>G	CA939164650	CPT1A	c.2235+90A>C (n.2235+90A>C) c.2331+90A>C (n.2331+90A>C)	dbSNP gnomAD v3 gnomAD v4
11	g.68759483dup	CA2614740147	CPT1A	c.2235+90dup (n.2235+90dup) c.2331+90dup (n.2331+90dup)	gnomAD v4
11	g.68759483T>C	CA223365612	CPT1A	c.2235+86A>G (n.2235+86A>G) c.2331+86A>G (n.2331+86A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.68759484C>A	CA679630342	CPT1A	c.2235+85G>T (n.2235+85G>T) c.2331+85G>T (n.2331+85G>T)	dbSNP gnomAD v3 gnomAD v4
11	g.68759485T>C	CA223365615	CPT1A	c.2235+84A>G (n.2235+84A>G) c.2331+84A>G (n.2331+84A>G)	dbSNP gnomAD v4
11	g.68759486G>C	CA679630343	CPT1A	c.2235+83C>G (n.2235+83C>G) c.2331+83C>G (n.2331+83C>G)	dbSNP
11	g.68759486G>T	CA2574903028	CPT1A	c.2235+83C>A (n.2235+83C>A) c.2331+83C>A (n.2331+83C>A)	gnomAD v4
11	g.68759487T>C	CA2724352223	CPT1A	c.2235+82A>G (n.2235+82A>G) c.2331+82A>G (n.2331+82A>G)	dbSNP
11	g.68759488C>A	CA2614740158	CPT1A	c.2235+81G>T (n.2235+81G>T) c.2331+81G>T (n.2331+81G>T)	gnomAD v4
11	g.68759488C>T	CA2574903029	CPT1A	c.2235+81G>A (n.2235+81G>A) c.2331+81G>A (n.2331+81G>A)
11	g.68759492T>A	CA2614740159	CPT1A	c.2235+77A>T (n.2235+77A>T) c.2331+77A>T (n.2331+77A>T)	gnomAD v4
11	g.68759492T>C	CA2724352224	CPT1A	c.2235+77A>G (n.2235+77A>G) c.2331+77A>G (n.2331+77A>G)	dbSNP
11	g.68759493T>G	CA599985054	CPT1A	c.2235+76A>C (n.2235+76A>C) c.2331+76A>C (n.2331+76A>C)	dbSNP gnomAD v2 gnomAD v4
11	g.68759494A>G	CA2614740163	CPT1A	c.2235+75T>C (n.2235+75T>C) c.2331+75T>C (n.2331+75T>C)	gnomAD v4
11	g.68759494A>T	CA2574903030	CPT1A	c.2235+75T>A (n.2235+75T>A) c.2331+75T>A (n.2331+75T>A)	gnomAD v4
11	g.68759496dup	CA939164654	CPT1A	c.2235+75dup (n.2235+75dup) c.2331+75dup (n.2331+75dup)	dbSNP gnomAD v3 gnomAD v4
11	g.68759497G>A	CA223365618	CPT1A	c.2235+72C>T (n.2235+72C>T) c.2331+72C>T (n.2331+72C>T)	dbSNP gnomAD v4
11	g.68759497G>C	CA2614740169	CPT1A	c.2235+72C>G (n.2235+72C>G) c.2331+72C>G (n.2331+72C>G)	gnomAD v4
11	g.68759497G>T	CA2614740170	CPT1A	c.2235+72C>A (n.2235+72C>A) c.2331+72C>A (n.2331+72C>A)	gnomAD v4
11	g.68759498A>G	CA2614740172	CPT1A	c.2235+71T>C (n.2235+71T>C) c.2331+71T>C (n.2331+71T>C)	gnomAD v4
11	g.68759499T>C	CA223365622	CPT1A	c.2235+70A>G (n.2235+70A>G) c.2331+70A>G (n.2331+70A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.68759502_68759503del	CA2614740175	CPT1A	c.2235+69_2235+70del (n.2235+69_2235+70del) c.2331+69_2331+70del (n.2331+69_2331+70del)	gnomAD v4
11	g.68759500G>T	CA2574903031	CPT1A	c.2235+69C>A (n.2235+69C>A) c.2331+69C>A (n.2331+69C>A)	gnomAD v4
11	g.68759501T>G	CA2614740178	CPT1A	c.2235+68A>C (n.2235+68A>C) c.2331+68A>C (n.2331+68A>C)	dbSNP gnomAD v4
11	g.68759502G>A	CA939164657	CPT1A	c.2235+67C>T (n.2235+67C>T) c.2331+67C>T (n.2331+67C>T)	dbSNP gnomAD v3 gnomAD v4
11	g.68759502G>T	CA2614740180	CPT1A	c.2235+67C>A (n.2235+67C>A) c.2331+67C>A (n.2331+67C>A)	gnomAD v4
11	g.68759503T>C	CA2614740182	CPT1A	c.2235+66A>G (n.2235+66A>G) c.2331+66A>G (n.2331+66A>G)	gnomAD v4
11	g.68759505T>A	CA223365625	CPT1A	c.2235+64A>T (n.2235+64A>T) c.2331+64A>T (n.2331+64A>T)	dbSNP
11	g.68759508T>C	CA2614740185	CPT1A	c.2235+61A>G (n.2235+61A>G) c.2331+61A>G (n.2331+61A>G)	gnomAD v4
11	g.68759508T>G	CA679630347	CPT1A	c.2235+61A>C (n.2235+61A>C) c.2331+61A>C (n.2331+61A>C)	dbSNP gnomAD v3 gnomAD v4
11	g.68759509T>C	CA939164659	CPT1A	c.2235+60A>G (n.2235+60A>G) c.2331+60A>G (n.2331+60A>G)	dbSNP gnomAD v3 gnomAD v4
11	g.68759510A>T	CA2574903032	CPT1A	c.2235+59T>A (n.2235+59T>A) c.2331+59T>A (n.2331+59T>A)	gnomAD v4
11	g.68759511A>C	CA223365628	CPT1A	c.2235+58T>G (n.2235+58T>G) c.2331+58T>G (n.2331+58T>G)	dbSNP gnomAD v3 gnomAD v4
11	g.68759512A>G	CA2614740191	CPT1A	c.2235+57T>C (n.2235+57T>C) c.2331+57T>C (n.2331+57T>C)	gnomAD v4
11	g.68759514A>G	CA2574903033	CPT1A	c.2235+55T>C (n.2235+55T>C) c.2331+55T>C (n.2331+55T>C)
11	g.68759515G>A	CA223365630	CPT1A	c.2235+54C>T (n.2235+54C>T) c.2331+54C>T (n.2331+54C>T)	dbSNP
11	g.68759515G>C	CA2792552356	CPT1A	c.2235+54C>G (n.2235+54C>G) c.2331+54C>G (n.2331+54C>G)
11	g.68759515G>T	CA223365632	CPT1A	c.2235+54C>A (n.2235+54C>A) c.2331+54C>A (n.2331+54C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.68759517A>G	CA679630349	CPT1A	c.2235+52T>C (n.2235+52T>C) c.2331+52T>C (n.2331+52T>C)	dbSNP gnomAD v3 gnomAD v4
11	g.68759518T>C	CA2614740193	CPT1A	c.2235+51A>G (n.2235+51A>G) c.2331+51A>G (n.2331+51A>G)	gnomAD v4
11	g.68759521del	CA939164670	CPT1A	c.2235+50del (n.2235+50del) c.2331+50del (n.2331+50del)	dbSNP gnomAD v3 gnomAD v4
11	g.68759520A>C	CA2614740194	CPT1A	c.2235+49T>G (n.2235+49T>G) c.2331+49T>G (n.2331+49T>G)	gnomAD v4
11	g.68759520A>T	CA2574903034	CPT1A	c.2235+49T>A (n.2235+49T>A) c.2331+49T>A (n.2331+49T>A)
11	g.68759522G>A	CA223365635	CPT1A	c.2235+47C>T (n.2235+47C>T) c.2331+47C>T (n.2331+47C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.68759522G>T	CA2614740197	CPT1A	c.2235+47C>A (n.2235+47C>A) c.2331+47C>A (n.2331+47C>A)	gnomAD v4
11	g.68759523C>A	CA2614740201	CPT1A	c.2235+46G>T (n.2235+46G>T) c.2331+46G>T (n.2331+46G>T)	gnomAD v4
11	g.68759525A>G	CA2724352226	CPT1A	c.2235+44T>C (n.2235+44T>C) c.2331+44T>C (n.2331+44T>C)	dbSNP
11	g.68759531C>A	CA6152036	CPT1A	c.2235+38G>T (n.2235+38G>T) c.2331+38G>T (n.2331+38G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.68759534del	CA599985058	CPT1A	c.2235+38del (n.2235+38del) c.2331+38del (n.2331+38del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.68759533C>T	CA2614740209	CPT1A	c.2235+36G>A (n.2235+36G>A) c.2331+36G>A (n.2331+36G>A)	gnomAD v4
11	g.68759541A>G	CA939164682	CPT1A	c.2235+28T>C (n.2235+28T>C) c.2331+28T>C (n.2331+28T>C)	dbSNP gnomAD v3 gnomAD v4
11	g.68759541A>T	CA2614740212	CPT1A	c.2235+28T>A (n.2235+28T>A) c.2331+28T>A (n.2331+28T>A)	gnomAD v4
11	g.68759542G>A	CA6152037	CPT1A	c.2235+27C>T (n.2235+27C>T) c.2331+27C>T (n.2331+27C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.68759542G>C	CA2614740217	CPT1A	c.2235+27C>G (n.2235+27C>G) c.2331+27C>G (n.2331+27C>G)	gnomAD v4
11	g.68759542G>T	CA2614740215	CPT1A	c.2235+27C>A (n.2235+27C>A) c.2331+27C>A (n.2331+27C>A)	gnomAD v4
11	g.68759543A>G	CA2574903035	CPT1A	c.2235+26T>C (n.2235+26T>C) c.2331+26T>C (n.2331+26T>C)
11	g.68759547dup	CA2792552357	CPT1A	c.2235+26dup (n.2235+26dup) c.2331+26dup (n.2331+26dup)
11	g.68759544A>C	CA2724352229	CPT1A	c.2235+25T>G (n.2235+25T>G) c.2331+25T>G (n.2331+25T>G)	dbSNP
11	g.68759545A>T	CA2614740218	CPT1A	c.2235+24T>A (n.2235+24T>A) c.2331+24T>A (n.2331+24T>A)	gnomAD v4
11	g.68759547A>G	CA939164704	CPT1A	c.2235+22T>C (n.2235+22T>C) c.2331+22T>C (n.2331+22T>C)	dbSNP gnomAD v3 gnomAD v4
11	g.68759548G>T	CA939164706	CPT1A	c.2235+21C>A (n.2235+21C>A) c.2331+21C>A (n.2331+21C>A)	dbSNP gnomAD v3 gnomAD v4
11	g.68759549G>A	CA599985061	CPT1A	c.2235+20C>T (n.2235+20C>T) c.2331+20C>T (n.2331+20C>T)	dbSNP gnomAD v2 gnomAD v4
11	g.68759549G>T	CA2614740220	CPT1A	c.2235+20C>A (n.2235+20C>A) c.2331+20C>A (n.2331+20C>A)	ClinVar gnomAD v4
11	g.68759553T>C	CA2574903036	CPT1A	c.2235+16A>G (n.2235+16A>G) c.2331+16A>G (n.2331+16A>G)	ClinVar gnomAD v4
11	g.68759554T>G	CA2697548777	CPT1A	c.2235+15A>C (n.2235+15A>C) c.2331+15A>C (n.2331+15A>C)	ClinVar
11	g.68759555C>A	CA679630354	CPT1A	c.2235+14G>T (n.2235+14G>T) c.2331+14G>T (n.2331+14G>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.68759555C>T	CA6152038	CPT1A	c.2235+14G>A (n.2235+14G>A) c.2331+14G>A (n.2331+14G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.68759560C>T	CA1139662066	CPT1A	c.2235+9G>A (n.2235+9G>A) c.2331+9G>A (n.2331+9G>A)	ClinVar dbSNP gnomAD v4
11	g.68759561A>G	CA2740093090	CPT1A	c.2235+8T>C (n.2235+8T>C) c.2331+8T>C (n.2331+8T>C)	ClinVar
11	g.68759562T>C	CA2724352230	CPT1A	c.2235+7A>G (n.2235+7A>G) c.2331+7A>G (n.2331+7A>G)	dbSNP
11	g.68759563A>G	CA2614740233	CPT1A	c.2235+6T>C (n.2235+6T>C) c.2331+6T>C (n.2331+6T>C)	gnomAD v4
11	g.68759564C>T	CA6152039	CPT1A	c.2235+5G>A (n.2235+5G>A) c.2331+5G>A (n.2331+5G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.68759565A>G	CA6152040	CPT1A	c.2235+4T>C (n.2235+4T>C) c.2331+4T>C (n.2331+4T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.68759565A>T	CA2517596326	CPT1A	c.2235+4T>A (n.2235+4T>A) c.2331+4T>A (n.2331+4T>A)
11	g.68759566T>C	CA2614740237	CPT1A	c.2235+3A>G (n.2235+3A>G) c.2331+3A>G (n.2331+3A>G)	gnomAD v4
11	g.68759567A>C	CA381625330	CPT1A	c.2235+2T>G (n.2235+2T>G) c.2331+2T>G (n.2331+2T>G)
11	g.68759567A>G	CA381625331	CPT1A	c.2235+2T>C (n.2235+2T>C) c.2331+2T>C (n.2331+2T>C)	gnomAD v4
11	g.68759567A>T	CA381625334	CPT1A	c.2235+2T>A (n.2235+2T>A) c.2331+2T>A (n.2331+2T>A)
11	g.68759568C>A	CA381625336	CPT1A	c.2235+1G>T (n.2235+1G>T) c.2331+1G>T (n.2331+1G>T)
11	g.68759568C>G	CA381625338	CPT1A	c.2235+1G>C (n.2235+1G>C) c.2331+1G>C (n.2331+1G>C)
11	g.68759568C>T	CA381625340	CPT1A	c.2235+1G>A (n.2235+1G>A) c.2331+1G>A (n.2331+1G>A)	gnomAD v4
11	g.68759569C>A	CA475181611	CPT1A	c.2235G>T (p.Thr745=) c.2331G>T (p.Thr777=)
11	g.68759569C>G	CA475181612	CPT1A	c.2235G>C (p.Thr745=) c.2331G>C (p.Thr777=)
11	g.68759569C>T	CA6152041	CPT1A	c.2235G>A (p.Thr745=) c.2331G>A (p.Thr777=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.68759570G>A	CA6152042	CPT1A	c.2234C>T (p.Thr745Met) c.2330C>T (p.Thr777Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11	g.68759570G>C	CA381625350	CPT1A	c.2234C>G (p.Thr745Arg) c.2330C>G (p.Thr777Arg)
11	g.68759570G>T	CA381625345	CPT1A	c.2234C>A (p.Thr745Lys) c.2330C>A (p.Thr777Lys)	gnomAD v4
11	g.68759571T>A	CA381625357	CPT1A	c.2233A>T (p.Thr745Ser) c.2329A>T (p.Thr777Ser)
11	g.68759571T>C	CA381625353	CPT1A	c.2233A>G (p.Thr745Ala) c.2329A>G (p.Thr777Ala)
11	g.68759571T>G	CA381625355	CPT1A	c.2233A>C (p.Thr745Pro) c.2329A>C (p.Thr777Pro)
11	g.68759572C>A	CA381625359	CPT1A	c.2232G>T (p.Glu744Asp) c.2328G>T (p.Glu776Asp)
11	g.68759572C>G	CA381625361	CPT1A	c.2232G>C (p.Glu744Asp) c.2328G>C (p.Glu776Asp)
11	g.68759572C>T	CA475181613	CPT1A	c.2232G>A (p.Glu744=) c.2328G>A (p.Glu776=)
11	g.68759573T>A	CA381625364	CPT1A	c.2231A>T (p.Glu744Val) c.2327A>T (p.Glu776Val)
11	g.68759573T>C	CA381625367	CPT1A	c.2231A>G (p.Glu744Gly) c.2327A>G (p.Glu776Gly)
11	g.68759573T>G	CA381625369	CPT1A	c.2231A>C (p.Glu744Ala) c.2327A>C (p.Glu776Ala)
11	g.68759574C>A	CA381625372	CPT1A	c.2230G>T (p.Glu744Ter) c.2326G>T (p.Glu776Ter)
11	g.68759574C>G	CA381625374	CPT1A	c.2230G>C (p.Glu744Gln) c.2326G>C (p.Glu776Gln)
11	g.68759574C>T	CA381625376	CPT1A	c.2230G>A (p.Glu744Lys) c.2326G>A (p.Glu776Lys)	COSMIC
11	g.68759575A>C	CA475181614	CPT1A	c.2229T>G (p.Pro743=) c.2325T>G (p.Pro775=)
11	g.68759575A>G	CA475181615	CPT1A	c.2229T>C (p.Pro743=) c.2325T>C (p.Pro775=)	dbSNP gnomAD v2 gnomAD v4
11	g.68759575A>T	CA475181616	CPT1A	c.2229T>A (p.Pro743=) c.2325T>A (p.Pro775=)
11	g.68759576G>A	CA381625379	CPT1A	c.2228C>T (p.Pro743Leu) c.2324C>T (p.Pro775Leu)	gnomAD v4
11	g.68759576G>C	CA381625381	CPT1A	c.2228C>G (p.Pro743Arg) c.2324C>G (p.Pro775Arg)
11	g.68759576G>T	CA381625383	CPT1A	c.2228C>A (p.Pro743His) c.2324C>A (p.Pro775His)
11	g.68759577_68759608del	CA645575722	CPT1A	c.2197_2228del (p.Asn733Ter) c.2293_2324del (p.Asn765Ter)	COSMIC

Number of alleles fetched