Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.73196477_73196479del	CA2525811614	COG1	c.316-30_316-28del (n.316-30_316-28del) c.314-30_314-28del c.293-10_293-8del
17	g.73196478C=	CA2274431910	COG1	c.316-29C= (n.316-29C=) c.314-29C= c.293-9C=
17	g.73196478C>T	CA8739931	COG1	c.316-29C>T (n.316-29C>T) c.314-29C>T c.293-9C>T	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.73196479T>C	CA8739932	COG1	c.316-28T>C (n.316-28T>C) c.314-28T>C c.293-8T>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.73196479T=	CA2274431911	COG1	c.316-28T= (n.316-28T=) c.314-28T= c.293-8T=
17	g.73196481G>A	CA293799236	COG1	c.316-26G>A (n.316-26G>A) c.314-26G>A c.293-6G>A	dbSNP gnomAD v2
17	g.73196481G=	CA2274431912	COG1	c.316-26G= (n.316-26G=) c.314-26G= c.293-6G=
17	g.73196486G>C	CA2639622957	COG1	c.316-21G>C (n.316-21G>C) c.314-21G>C c.293-1G>C	gnomAD v4
17	g.73196489C>A	CA2639622958	COG1	c.316-18C>A (n.316-18C>A) c.314-18C>A c.295C>A	gnomAD v4
17	g.73196490T>C	CA293799239	COG1	c.316-17T>C (n.316-17T>C) c.314-17T>C c.296T>C	dbSNP gnomAD v4
17	g.73196490T=	CA2274431913	COG1	c.316-17T= (n.316-17T=) c.314-17T= c.296T=
17	g.73196493G>A	CA8739933	COG1	c.316-14G>A (n.316-14G>A) c.314-14G>A c.299G>A	dbSNP ExAC gnomAD v2
17	g.73196493G=	CA2274431914	COG1	c.316-14G= (n.316-14G=) c.314-14G= c.299G=
17	g.73196494C>T	CA2639622959	COG1	c.316-13C>T (n.316-13C>T) c.314-13C>T c.300C>T	gnomAD v4
17	g.73196495C>A	CA2639622961	COG1	c.316-12C>A (n.316-12C>A) c.314-12C>A c.301C>A	gnomAD v4
17	g.73196495C=	CA2274431915	COG1	c.316-12C= (n.316-12C=) c.314-12C= c.301C=
17	g.73196495C>T	CA627590152	COG1	c.316-12C>T (n.316-12C>T) c.314-12C>T c.301C>T	dbSNP gnomAD v2 gnomAD v4
17	g.73196496T>C	CA2576374988	COG1	c.316-11T>C (n.316-11T>C) c.314-11T>C c.302T>C
17	g.73196497T>C	CA627590153	COG1	c.316-10T>C (n.316-10T>C) c.314-10T>C c.303T>C	dbSNP gnomAD v2 gnomAD v4
17	g.73196497T=	CA2274431916	COG1	c.316-10T= (n.316-10T=) c.314-10T= c.303T=
17	g.73196498C>T	CA2639622963	COG1	c.316-9C>T (n.316-9C>T) c.314-9C>T c.304C>T	ClinVar dbSNP gnomAD v4
17	g.73196501dup	CA774876099	COG1	c.316-6dup (n.316-6dup) c.314-6dup c.307dup	dbSNP gnomAD v4
17	g.73196499C>A	CA2639622964	COG1	c.316-8C>A (n.316-8C>A) c.314-8C>A c.305C>A	gnomAD v4
17	g.73196499C>T	CA2576374989	COG1	c.316-8C>T (n.316-8C>T) c.314-8C>T c.305C>T
17	g.73196500C>T	CA2639622966	COG1	c.316-7C>T (n.316-7C>T) c.314-7C>T c.306C>T	gnomAD v4
17	g.73196501C>A	CA2639622967	COG1	c.316-6C>A (n.316-6C>A) c.314-6C>A c.307C>A	gnomAD v4
17	g.73196501C=	CA2274431917	COG1	c.316-6C= (n.316-6C=) c.314-6C= c.307C=
17	g.73196501C>G	CA2639622968	COG1	c.316-6C>G (n.316-6C>G) c.314-6C>G c.307C>G	gnomAD v4
17	g.73196501C>T	CA8739934	COG1	c.316-6C>T (n.316-6C>T) c.314-6C>T c.307C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.73196502T>A	CA8739935	COG1	c.316-5T>A (n.316-5T>A) c.314-5T>A c.308T>A	dbSNP ExAC gnomAD v2
17	g.73196502T=	CA2274431918	COG1	c.316-5T= (n.316-5T=) c.314-5T= c.308T=
17	g.73196503G>C	CA2274431920	COG1	c.316-4G>C (n.316-4G>C) c.314-4G>C c.309G>C	dbSNP gnomAD v4
17	g.73196503G=	CA2274431919	COG1	c.316-4G= (n.316-4G=) c.314-4G= c.309G=
17	g.73196504C=	CA2274431921	COG1	c.316-3C= (n.316-3C=) c.314-3C= c.310C=
17	g.73196504C>T	CA8739936	COG1	c.316-3C>T (n.316-3C>T) c.314-3C>T c.310C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.73196505A>C	CA400882755	COG1	c.316-2A>C (n.316-2A>C) c.314-2A>C c.311A>C
17	g.73196505A>G	CA400882756	COG1	c.316-2A>G (n.316-2A>G) c.314-2A>G c.311A>G
17	g.73196505A>T	CA400882757	COG1	c.316-2A>T (n.316-2A>T) c.314-2A>T c.311A>T
17	g.73196506G>A	CA400882758	COG1	c.316-1G>A (n.316-1G>A) c.314-1G>A c.312G>A
17	g.73196506G>C	CA400882759	COG1	c.316-1G>C (n.316-1G>C) c.314-1G>C c.312G>C
17	g.73196506G>T	CA400882760	COG1	c.316-1G>T (n.316-1G>T) c.314-1G>T c.312G>T
17	g.73196507C>A	CA400882761	COG1	c.316C>A (p.Pro106Thr) c.314C>A c.313C>A
17	g.73196507C>G	CA400882762	COG1	c.316C>G (p.Pro106Ala) c.314C>G c.313C>G
17	g.73196507C>T	CA400882763	COG1	c.316C>T (p.Pro106Ser) c.314C>T c.313C>T
17	g.73196508C>A	CA400882765	COG1	c.317C>A (p.Pro106Gln) c.315C>A c.314C>A
17	g.73196508C=	CA2274431922	COG1	c.317C= (p.Pro106=) c.315C= c.314C=
17	g.73196508C>G	CA400882764	COG1	c.317C>G (p.Pro106Arg) c.315C>G c.314C>G
17	g.73196508C>T	CA8739937	COG1	c.317C>T (p.Pro106Leu) c.315C>T c.314C>T	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.73196509A>C	CA502026158	COG1	c.318A>C (p.Pro106=) c.316A>C c.315A>C
17	g.73196509A>G	CA502026159	COG1	c.318A>G (p.Pro106=) c.316A>G c.315A>G
17	g.73196509A>T	CA502026160	COG1	c.318A>T (p.Pro106=) c.316A>T c.315A>T
17	g.73196510C>A	CA400882766	COG1	c.319C>A (p.Gln107Lys) c.317C>A c.316C>A
17	g.73196510C>G	CA400882767	COG1	c.319C>G (p.Gln107Glu) c.317C>G c.316C>G
17	g.73196510C>T	CA400882768	COG1	c.319C>T (p.Gln107Ter) c.317C>T c.316C>T
17	g.73196511A=	CA2274431923	COG1	c.320A= (p.Gln107=) c.318A= c.317A=
17	g.73196511A>C	CA400882769	COG1	c.320A>C (p.Gln107Pro) c.318A>C c.317A>C
17	g.73196511A>G	CA8739938	COG1	c.320A>G (p.Gln107Arg) c.318A>G c.317A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.73196511A>T	CA400882770	COG1	c.320A>T (p.Gln107Leu) c.318A>T c.317A>T
17	g.73196512G>A	CA502026165	COG1	c.321G>A (p.Gln107=) c.319G>A c.318G>A
17	g.73196512G>C	CA400882771	COG1	c.321G>C (p.Gln107His) c.319G>C c.318G>C
17	g.73196512G>T	CA400882772	COG1	c.321G>T (p.Gln107His) c.319G>T c.318G>T
17	g.73196513C>A	CA400882773	COG1	c.322C>A (p.Gln108Lys) c.320C>A c.319C>A
17	g.73196513C>G	CA400882774	COG1	c.322C>G (p.Gln108Glu) c.320C>G c.319C>G
17	g.73196513C>T	CA400882775	COG1	c.322C>T (p.Gln108Ter) c.320C>T c.319C>T	gnomAD v4
17	g.73196514A>C	CA400882778	COG1	c.323A>C (p.Gln108Pro) c.321A>C c.320A>C
17	g.73196514A>G	CA400882777	COG1	c.323A>G (p.Gln108Arg) c.321A>G c.320A>G
17	g.73196514A>T	CA400882776	COG1	c.323A>T (p.Gln108Leu) c.321A>T c.320A>T
17	g.73196515G>A	CA502026167	COG1	c.324G>A (p.Gln108=) c.322G>A c.321G>A
17	g.73196515G>C	CA400882779	COG1	c.324G>C (p.Gln108His) c.322G>C c.321G>C
17	g.73196515G>T	CA400882780	COG1	c.324G>T (p.Gln108His) c.322G>T c.321G>T
17	g.73196516C>A	CA400882781	COG1	c.325C>A (p.Pro109Thr) c.323C>A c.322C>A
17	g.73196516C>G	CA400882782	COG1	c.325C>G (p.Pro109Ala) c.323C>G c.322C>G
17	g.73196516C>T	CA400882783	COG1	c.325C>T (p.Pro109Ser) c.323C>T c.322C>T
17	g.73196517C>A	CA400882786	COG1	c.326C>A (p.Pro109Gln) c.324C>A c.323C>A
17	g.73196517C>G	CA400882785	COG1	c.326C>G (p.Pro109Arg) c.324C>G c.323C>G
17	g.73196517C>T	CA400882784	COG1	c.326C>T (p.Pro109Leu) c.324C>T c.323C>T
17	g.73196518A=	CA2274431924	COG1	c.327A= (p.Pro109=) c.325A= c.324A=
17	g.73196518A>C	CA502026172	COG1	c.327A>C (p.Pro109=) c.325A>C c.324A>C
17	g.73196518A>G	CA293799265	COG1	c.327A>G (p.Pro109=) c.325A>G c.324A>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.73196518A>T	CA502026171	COG1	c.327A>T (p.Pro109=) c.325A>T c.324A>T
17	g.73196519T>A	CA400882787	COG1	c.328T>A (p.Ser110Thr) c.326T>A c.325T>A	gnomAD v4
17	g.73196519T>C	CA400882788	COG1	c.328T>C (p.Ser110Pro) c.326T>C c.325T>C
17	g.73196519T>G	CA400882789	COG1	c.328T>G (p.Ser110Ala) c.326T>G c.325T>G
17	g.73196520C>A	CA400882791	COG1	c.329C>A (p.Ser110Tyr) c.327C>A c.326C>A
17	g.73196520C=	CA2274431925	COG1	c.329C= (p.Ser110=) c.327C= c.326C=
17	g.73196520C>G	CA400882793	COG1	c.329C>G (p.Ser110Cys) c.327C>G c.326C>G
17	g.73196520C>T	CA8739939	COG1	c.329C>T (p.Ser110Phe) c.327C>T c.326C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.73196521C>A	CA502026176	COG1	c.330C>A (p.Ser110=) c.328C>A c.327C>A	COSMIC
17	g.73196521C=	CA2274431926	COG1	c.330C= (p.Ser110=) c.328C= c.327C=
17	g.73196521C>G	CA502026177	COG1	c.330C>G (p.Ser110=) c.328C>G c.327C>G
17	g.73196521C>T	CA502026178	COG1	c.330C>T (p.Ser110=) c.328C>T c.327C>T	dbSNP gnomAD v3 gnomAD v4
17	g.73196522C>A	CA400882797	COG1	c.331C>A (p.Gln111Lys) c.329C>A c.328C>A	dbSNP
17	g.73196522C=	CA2274431928	COG1	c.331C= (p.Gln111=) c.329C= c.328C=
17	g.73196522C>G	CA400882800	COG1	c.331C>G (p.Gln111Glu) c.329C>G c.328C>G
17	g.73196522C>T	CA400882799	COG1	c.331C>T (p.Gln111Ter) c.329C>T c.328C>T
17	g.73196522_73196525delinsCAGG	CA2274431927	COG1	c.331_334delinsCAGG (p.Gln111=) c.329_332delinsCAGG c.328_331delinsCAGG
17	g.73196523A>C	CA400882803	COG1	c.332A>C (p.Gln111Pro) c.330A>C c.329A>C	gnomAD v4
17	g.73196523A>G	CA400882805	COG1	c.332A>G (p.Gln111Arg) c.330A>G c.329A>G
17	g.73196523A>T	CA400882806	COG1	c.332A>T (p.Gln111Leu) c.330A>T c.329A>T
17	g.73196523_73196525delinsAGG	CA2274431929	COG1	c.332_334delinsAGG (p.Gln111=) c.330_332delinsAGG c.329_331delinsAGG
17	g.73196525_73196527del	CA8739940	COG1	c.334_336del (p.Glu112del) c.332_334del c.331_333del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.73196524G>A	CA149037	COG1	c.333G>A (p.Gln111=) c.331G>A c.330G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.73196524G>C	CA400882810	COG1	c.333G>C (p.Gln111His) c.331G>C c.330G>C
17	g.73196524G=	CA2274431931	COG1	c.333G= (p.Gln111=) c.331G= c.330G=
17	g.73196524G>T	CA400882811	COG1	c.333G>T (p.Gln111His) c.331G>T c.330G>T	dbSNP
17	g.73196524_73196525del	CA2274431930	COG1	c.333_334del (p.Lys113ValfsTer?) c.331_332del c.330_331del	dbSNP gnomAD v4
17	g.73196525G>A	CA400882812	COG1	c.334G>A (p.Glu112Lys) c.332G>A c.331G>A
17	g.73196525G>C	CA400882814	COG1	c.334G>C (p.Glu112Gln) c.332G>C c.331G>C	dbSNP gnomAD v4
17	g.73196525G=	CA2274431932	COG1	c.334G= (p.Glu112=) c.332G= c.331G=
17	g.73196525G>T	CA400882816	COG1	c.334G>T (p.Glu112Ter) c.332G>T c.331G>T
17	g.73196526A=	CA2274431933	COG1	c.335A= (p.Glu112=) c.333A= c.332A=
17	g.73196526A>C	CA400882821	COG1	c.335A>C (p.Glu112Ala) c.333A>C c.332A>C
17	g.73196526A>G	CA400882819	COG1	c.335A>G (p.Glu112Gly) c.333A>G c.332A>G	dbSNP
17	g.73196526A>T	CA400882818	COG1	c.335A>T (p.Glu112Val) c.333A>T c.332A>T
17	g.73196527G>A	CA502026184	COG1	c.336G>A (p.Glu112=) c.334G>A c.333G>A
17	g.73196527G>C	CA400882823	COG1	c.336G>C (p.Glu112Asp) c.334G>C c.333G>C
17	g.73196527G>T	CA400882825	COG1	c.336G>T (p.Glu112Asp) c.334G>T c.333G>T
17	g.73196527_73196528delinsGA	CA2274431934	COG1	c.336_337delinsGA (p.Glu112=) c.334_335delinsGA c.333_334delinsGA
17	g.73196528A>C	CA400882828	COG1	c.337A>C (p.Lys113Gln) c.335A>C c.334A>C
17	g.73196528A>G	CA400882832	COG1	c.337A>G (p.Lys113Glu) c.335A>G c.334A>G
17	g.73196528A>T	CA400882830	COG1	c.337A>T (p.Lys113Ter) c.335A>T c.334A>T
17	g.73196529del	CA2274431935	COG1	c.338del (p.Lys113SerfsTer13) c.336del c.335del	dbSNP gnomAD v4
17	g.73196529A=	CA2274431936	COG1	c.338A= (p.Lys113=) c.336A= c.335A=
17	g.73196529A>C	CA400882834	COG1	c.338A>C (p.Lys113Thr) c.336A>C c.335A>C
17	g.73196529A>G	CA400882835	COG1	c.338A>G (p.Lys113Arg) c.336A>G c.335A>G	dbSNP
17	g.73196529A>T	CA400882836	COG1	c.338A>T (p.Lys113Met) c.336A>T c.335A>T
17	g.73196530G>A	CA502026188	COG1	c.339G>A (p.Lys113=) c.337G>A c.336G>A
17	g.73196530G>C	CA400882839	COG1	c.339G>C (p.Lys113Asn) c.337G>C c.336G>C
17	g.73196530G>T	CA400882841	COG1	c.339G>T (p.Lys113Asn) c.337G>T c.336G>T
17	g.73196531T>A	CA293799274	COG1	c.340T>A (p.Phe114Ile) c.338T>A c.337T>A	dbSNP gnomAD v4
17	g.73196531T>C	CA400882844	COG1	c.340T>C (p.Phe114Leu) c.338T>C c.337T>C
17	g.73196531T>G	CA400882846	COG1	c.340T>G (p.Phe114Val) c.338T>G c.337T>G
17	g.73196531T=	CA2274431937	COG1	c.340T= (p.Phe114=) c.338T= c.337T=
17	g.73196532T>A	CA400882848	COG1	c.341T>A (p.Phe114Tyr) c.339T>A c.338T>A
17	g.73196532T>C	CA400882850	COG1	c.341T>C (p.Phe114Ser) c.339T>C c.338T>C
17	g.73196532T>G	CA400882852	COG1	c.341T>G (p.Phe114Cys) c.339T>G c.338T>G
17	g.73196533C>A	CA400882855	COG1	c.342C>A (p.Phe114Leu) c.340C>A c.339C>A
17	g.73196533C>G	CA400882853	COG1	c.342C>G (p.Phe114Leu) c.340C>G c.339C>G	COSMIC
17	g.73196533C>T	CA502026191	COG1	c.342C>T (p.Phe114=) c.340C>T c.339C>T
17	g.73196534T>A	CA400882856	COG1	c.343T>A (p.Tyr115Asn) c.341T>A c.340T>A
17	g.73196534T>C	CA400882857	COG1	c.343T>C (p.Tyr115His) c.341T>C c.340T>C
17	g.73196534T>G	CA400882859	COG1	c.343T>G (p.Tyr115Asp) c.341T>G c.340T>G
17	g.73196535A=	CA2274431938	COG1	c.344A= (p.Tyr115=) c.342A= c.341A=
17	g.73196535A>C	CA400882861	COG1	c.344A>C (p.Tyr115Ser) c.342A>C c.341A>C
17	g.73196535A>G	CA8739941	COG1	c.344A>G (p.Tyr115Cys) c.342A>G c.341A>G	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.73196535A>T	CA400882864	COG1	c.344A>T (p.Tyr115Phe) c.342A>T c.341A>T
17	g.73196536C>A	CA400882866	COG1	c.345C>A (p.Tyr115Ter) c.343C>A c.342C>A
17	g.73196536C=	CA2274431939	COG1	c.345C= (p.Tyr115=) c.343C= c.342C=
17	g.73196536C>G	CA400882868	COG1	c.345C>G (p.Tyr115Ter) c.343C>G c.342C>G
17	g.73196536C>T	CA502026194	COG1	c.345C>T (p.Tyr115=) c.343C>T c.342C>T	dbSNP gnomAD v3 gnomAD v4
17	g.73196537A=	CA2274431940	COG1	c.346A= (p.Ser116=) c.344A= c.343A=
17	g.73196537A>C	CA400882870	COG1	c.346A>C (p.Ser116Arg) c.344A>C c.343A>C
17	g.73196537A>G	CA400882872	COG1	c.346A>G (p.Ser116Gly) c.344A>G c.343A>G	dbSNP gnomAD v2 gnomAD v4
17	g.73196537A>T	CA400882874	COG1	c.346A>T (p.Ser116Cys) c.344A>T c.343A>T
17	g.73196538G>A	CA400882877	COG1	c.347G>A (p.Ser116Asn) c.345G>A c.344G>A
17	g.73196538G>C	CA400882878	COG1	c.347G>C (p.Ser116Thr) c.345G>C c.344G>C
17	g.73196538G>T	CA400882876	COG1	c.347G>T (p.Ser116Ile) c.345G>T c.344G>T
17	g.73196539C>A	CA400882880	COG1	c.348C>A (p.Ser116Arg) c.346C>A c.345C>A
17	g.73196539C>G	CA400882882	COG1	c.348C>G (p.Ser116Arg) c.346C>G c.345C>G
17	g.73196539C>T	CA502026198	COG1	c.348C>T (p.Ser116=) c.346C>T c.345C>T	gnomAD v4
17	g.73196540A>C	CA400882885	COG1	c.349A>C (p.Met117Leu) c.347A>C c.346A>C
17	g.73196540A>G	CA400882886	COG1	c.349A>G (p.Met117Val) c.347A>G c.346A>G
17	g.73196540A>T	CA400882888	COG1	c.349A>T (p.Met117Leu) c.347A>T c.346A>T
17	g.73196541T>A	CA400882894	COG1	c.350T>A (p.Met117Lys) c.348T>A c.347T>A
17	g.73196541T>C	CA400882892	COG1	c.350T>C (p.Met117Thr) c.348T>C c.347T>C
17	g.73196541T>G	CA400882891	COG1	c.350T>G (p.Met117Arg) c.348T>G c.347T>G	gnomAD v4
17	g.73196542G>A	CA293799276	COG1	c.351G>A (p.Met117Ile) c.349G>A c.348G>A	dbSNP gnomAD v4
17	g.73196542G>C	CA400882895	COG1	c.351G>C (p.Met117Ile) c.349G>C c.348G>C
17	g.73196542G=	CA2274431941	COG1	c.351G= (p.Met117=) c.349G= c.348G=
17	g.73196542G>T	CA400882897	COG1	c.351G>T (p.Met117Ile) c.349G>T c.348G>T
17	g.73196543G>A	CA400882899	COG1	c.352G>A (p.Ala118Thr) c.350G>A c.349G>A
17	g.73196543G>C	CA400882901	COG1	c.352G>C (p.Ala118Pro) c.350G>C c.349G>C
17	g.73196543G=	CA2274431942	COG1	c.352G= (p.Ala118=) c.350G= c.349G=
17	g.73196543G>T	CA8739942	COG1	c.352G>T (p.Ala118Ser) c.350G>T c.349G>T	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.73196544C>A	CA400882905	COG1	c.353C>A (p.Ala118Asp) c.351C>A c.350C>A
17	g.73196544C>G	CA400882908	COG1	c.353C>G (p.Ala118Gly) c.351C>G c.350C>G
17	g.73196544C>T	CA400882906	COG1	c.353C>T (p.Ala118Val) c.351C>T c.350C>T
17	g.73196545T>A	CA502026205	COG1	c.354T>A (p.Ala118=) c.352T>A c.351T>A
17	g.73196545T>C	CA502026206	COG1	c.354T>C (p.Ala118=) c.352T>C c.351T>C
17	g.73196545T>G	CA502026207	COG1	c.354T>G (p.Ala118=) c.352T>G c.351T>G
17	g.73196546G>A	CA293799305	COG1	c.355G>A (p.Ala119Thr) c.353G>A c.352G>A	dbSNP gnomAD v2 gnomAD v4
17	g.73196546G>C	CA400882911	COG1	c.355G>C (p.Ala119Pro) c.353G>C c.352G>C	gnomAD v4
17	g.73196546G=	CA2274431943	COG1	c.355G= (p.Ala119=) c.353G= c.352G=
17	g.73196546G>T	CA400882913	COG1	c.355G>T (p.Ala119Ser) c.353G>T c.352G>T
17	g.73196547C>A	CA400882915	COG1	c.356C>A (p.Ala119Asp) c.354C>A c.353C>A
17	g.73196547C=	CA2274431944	COG1	c.356C= (p.Ala119=) c.354C= c.353C=
17	g.73196547C>G	CA400882916	COG1	c.356C>G (p.Ala119Gly) c.354C>G c.353C>G
17	g.73196547C>T	CA8739943	COG1	c.356C>T (p.Ala119Val) c.354C>T c.353C>T	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.73196548C>A	CA502026211	COG1	c.357C>A (p.Ala119=) c.355C>A c.354C>A	gnomAD v4
17	g.73196548C>G	CA502026212	COG1	c.357C>G (p.Ala119=) c.355C>G c.354C>G
17	g.73196548C>T	CA502026213	COG1	c.357C>T (p.Ala119=) c.355C>T c.354C>T
17	g.73196549C>A	CA400882919	COG1	c.358C>A (p.Gln120Lys) c.356C>A c.355C>A
17	g.73196549C>G	CA400882921	COG1	c.358C>G (p.Gln120Glu) c.356C>G c.355C>G
17	g.73196549C>T	CA400882923	COG1	c.358C>T (p.Gln120Ter) c.356C>T c.355C>T
17	g.73196550A>C	CA400882925	COG1	c.359A>C (p.Gln120Pro) c.357A>C c.356A>C	gnomAD v4
17	g.73196550A>G	CA400882927	COG1	c.359A>G (p.Gln120Arg) c.357A>G c.356A>G
17	g.73196550A>T	CA400882929	COG1	c.359A>T (p.Gln120Leu) c.357A>T c.356A>T
17	g.73196551G>A	CA502026215	COG1	c.360G>A (p.Gln120=) c.358G>A c.357G>A	gnomAD v4
17	g.73196551G>C	CA400882933	COG1	c.360G>C (p.Gln120His) c.358G>C c.357G>C
17	g.73196551G>T	CA400882931	COG1	c.360G>T (p.Gln120His) c.358G>T c.357G>T
17	g.73196552A=	CA2274431945	COG1	c.361A= (p.Ile121=) c.359A= c.358A=
17	g.73196552A>C	CA400882936	COG1	c.361A>C (p.Ile121Leu) c.359A>C c.358A>C
17	g.73196552A>G	CA400882942	COG1	c.361A>G (p.Ile121Val) c.359A>G c.358A>G	dbSNP gnomAD v3 gnomAD v4
17	g.73196552A>T	CA400882940	COG1	c.361A>T (p.Ile121Phe) c.359A>T c.358A>T
17	g.73196553T>A	CA400882945	COG1	c.362T>A (p.Ile121Asn) c.360T>A c.359T>A
17	g.73196553T>C	CA400882946	COG1	c.362T>C (p.Ile121Thr) c.360T>C c.359T>C
17	g.73196553T>G	CA400882948	COG1	c.362T>G (p.Ile121Ser) c.360T>G c.359T>G
17	g.73196554C>A	CA502026218	COG1	c.363C>A (p.Ile121=) c.361C>A c.360C>A
17	g.73196554C=	CA2274431946	COG1	c.363C= (p.Ile121=) c.361C= c.360C=
17	g.73196554C>G	CA8739944	COG1	c.363C>G (p.Ile121Met) c.361C>G c.360C>G	dbSNP ExAC gnomAD v2
17	g.73196554C>T	CA502026219	COG1	c.363C>T (p.Ile121=) c.361C>T c.360C>T
17	g.73196555A>C	CA400882952	COG1	c.364A>C (p.Lys122Gln) c.362A>C c.361A>C
17	g.73196555A>G	CA400882956	COG1	c.364A>G (p.Lys122Glu) c.362A>G c.361A>G
17	g.73196555A>T	CA400882958	COG1	c.364A>T (p.Lys122Ter) c.362A>T c.361A>T
17	g.73196556del	CA2639623013	COG1	c.365del (p.Lys122SerfsTer4) c.363del c.362del	gnomAD v4
17	g.73196556A>C	CA400882961	COG1	c.365A>C (p.Lys122Thr) c.363A>C c.362A>C
17	g.73196556A>G	CA400882963	COG1	c.365A>G (p.Lys122Arg) c.363A>G c.362A>G
17	g.73196556A>T	CA400882966	COG1	c.365A>T (p.Lys122Met) c.363A>T c.362A>T
17	g.73196557G>A	CA502026222	COG1	c.366G>A (p.Lys122=) c.364G>A c.363G>A
17	g.73196557G>C	CA400882969	COG1	c.366G>C (p.Lys122Asn) c.364G>C c.363G>C
17	g.73196557G=	CA2274431947	COG1	c.366G= (p.Lys122=) c.364G= c.363G=
17	g.73196557G>T	CA400882970	COG1	c.366G>T (p.Lys122Asn) c.364G>T c.363G>T	dbSNP gnomAD v2 gnomAD v4
17	g.73196558C>A	CA400882973	COG1	c.367C>A (p.Leu123Ile) c.365C>A c.364C>A
17	g.73196558C=	CA2274431948	COG1	c.367C= (p.Leu123=) c.365C= c.364C=
17	g.73196558C>G	CA8739945	COG1	c.367C>G (p.Leu123Val) c.365C>G c.364C>G	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.73196558C>T	CA502026224	COG1	c.367C>T (p.Leu123=) c.365C>T c.364C>T
17	g.73196559T>A	CA400882975	COG1	c.368T>A (p.Leu123Gln) c.366T>A c.365T>A
17	g.73196559T>C	CA400882977	COG1	c.368T>C (p.Leu123Pro) c.366T>C c.365T>C
17	g.73196559T>G	CA400882980	COG1	c.368T>G (p.Leu123Arg) c.366T>G c.365T>G
17	g.73196560A>C	CA502026227	COG1	c.369A>C (p.Leu123=) c.367A>C c.366A>C
17	g.73196560A>G	CA502026229	COG1	c.369A>G (p.Leu123=) c.367A>G c.366A>G
17	g.73196560A>T	CA502026228	COG1	c.369A>T (p.Leu123=) c.367A>T c.366A>T
17	g.73196561C>A	CA400882983	COG1	c.370C>A (p.Leu124Ile) c.368C>A c.367C>A
17	g.73196561C=	CA2274431949	COG1	c.370C= (p.Leu124=) c.368C= c.367C=
17	g.73196561C>G	CA400882985	COG1	c.370C>G (p.Leu124Val) c.368C>G c.367C>G	dbSNP
17	g.73196561C>T	CA400882986	COG1	c.370C>T (p.Leu124Phe) c.368C>T c.367C>T
17	g.73196562T>A	CA400882991	COG1	c.371T>A (p.Leu124His) c.369T>A c.368T>A
17	g.73196562T>C	CA400882988	COG1	c.371T>C (p.Leu124Pro) c.369T>C c.368T>C	dbSNP gnomAD v2 gnomAD v4
17	g.73196562T>G	CA400882990	COG1	c.371T>G (p.Leu124Arg) c.369T>G c.368T>G
17	g.73196562T=	CA2274431950	COG1	c.371T= (p.Leu124=) c.369T= c.368T=
17	g.73196563C>A	CA8739947	COG1	c.372C>A (p.Leu124=) c.370C>A c.369C>A	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.73196563C=	CA2274431951	COG1	c.372C= (p.Leu124=) c.370C= c.369C=
17	g.73196563C>G	CA8739946	COG1	c.372C>G (p.Leu124=) c.370C>G c.369C>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.73196563C>T	CA502026233	COG1	c.372C>T (p.Leu124=) c.370C>T c.369C>T	dbSNP gnomAD v3 gnomAD v4
17	g.73196564T>A	CA400882994	COG1	c.373T>A (p.Leu125Ile) c.371T>A c.370T>A
17	g.73196564T>C	CA293799331	COG1	c.373T>C (p.Leu125=) c.371T>C c.370T>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.73196564T>G	CA400882996	COG1	c.373T>G (p.Leu125Val) c.371T>G c.370T>G	gnomAD v4
17	g.73196564T=	CA2274431952	COG1	c.373T= (p.Leu125=) c.371T= c.370T=
17	g.73196565T>A	CA8739948	COG1	c.374T>A (p.Leu125Ter) c.372T>A c.371T>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.73196565T>C	CA400883000	COG1	c.374T>C (p.Leu125Ser) c.372T>C c.371T>C	gnomAD v4
17	g.73196565T>G	CA400882998	COG1	c.374T>G (p.Leu125Ter) c.372T>G c.371T>G
17	g.73196565T=	CA2274431953	COG1	c.374T= (p.Leu125=) c.372T= c.371T=
17	g.73196566A>C	CA400883002	COG1	c.375A>C (p.Leu125Phe) c.373A>C c.372A>C
17	g.73196566A>G	CA502026237	COG1	c.375A>G (p.Leu125=) c.373A>G c.372A>G
17	g.73196566A>T	CA400883004	COG1	c.375A>T (p.Leu125Phe) c.373A>T c.372A>T
17	g.73196567G>A	CA400883006	COG1	c.376G>A (p.Glu126Lys) c.374G>A c.373G>A
17	g.73196567G>C	CA400883008	COG1	c.376G>C (p.Glu126Gln) c.374G>C c.373G>C
17	g.73196567G=	CA2274431954	COG1	c.376G= (p.Glu126=) c.374G= c.373G=
17	g.73196567G>T	CA400883010	COG1	c.376G>T (p.Glu126Ter) c.374G>T c.373G>T	dbSNP gnomAD v4
17	g.73196568A>C	CA400883012	COG1	c.377A>C (p.Glu126Ala) c.375A>C c.374A>C
17	g.73196568A>G	CA400883014	COG1	c.377A>G (p.Glu126Gly) c.375A>G c.374A>G
17	g.73196568A>T	CA400883015	COG1	c.377A>T (p.Glu126Val) c.375A>T c.374A>T
17	g.73196569A=	CA2274431955	COG1	c.378A= (p.Glu126=) c.376A= c.375A=
17	g.73196569A>C	CA400883018	COG1	c.378A>C (p.Glu126Asp) c.376A>C c.375A>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.73196569A>G	CA502026239	COG1	c.378A>G (p.Glu126=) c.376A>G c.375A>G
17	g.73196569A>T	CA400883020	COG1	c.378A>T (p.Glu126Asp) c.376A>T c.375A>T
17	g.73196570A>C	CA400883022	COG1	c.379A>C (p.Ile127Leu) c.377A>C c.376A>C
17	g.73196570A>G	CA400883024	COG1	c.379A>G (p.Ile127Val) c.377A>G c.376A>G
17	g.73196570A>T	CA400883026	COG1	c.379A>T (p.Ile127Phe) c.377A>T c.376A>T
17	g.73196571T>A	CA400883034	COG1	c.380T>A (p.Ile127Asn) c.378T>A c.377T>A	COSMIC
17	g.73196571T>C	CA400883029	COG1	c.380T>C (p.Ile127Thr) c.378T>C c.377T>C	gnomAD v4
17	g.73196571T>G	CA400883031	COG1	c.380T>G (p.Ile127Ser) c.378T>G c.377T>G
17	g.73196572T>A	CA502026243	COG1	c.381T>A (p.Ile127=) c.379T>A c.378T>A
17	g.73196572T>C	CA502026244	COG1	c.381T>C (p.Ile127=) c.379T>C c.378T>C
17	g.73196572T>G	CA400883036	COG1	c.381T>G (p.Ile127Met) c.379T>G c.378T>G
17	g.73196573C>A	CA400883039	COG1	c.382C>A (p.Pro128Thr) c.380C>A c.379C>A
17	g.73196573C>G	CA400883040	COG1	c.382C>G (p.Pro128Ala) c.380C>G c.379C>G
17	g.73196573C>T	CA400883042	COG1	c.382C>T (p.Pro128Ser) c.380C>T c.379C>T
17	g.73196574C>A	CA400883045	COG1	c.383C>A (p.Pro128Gln) c.381C>A c.380C>A
17	g.73196574C=	CA2274431956	COG1	c.383C= (p.Pro128=) c.381C= c.380C=
17	g.73196574C>G	CA400883046	COG1	c.383C>G (p.Pro128Arg) c.381C>G c.380C>G
17	g.73196574C>T	CA8739949	COG1	c.383C>T (p.Pro128Leu) c.381C>T c.380C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.73196575G>A	CA8739950	COG1	c.384G>A (p.Pro128=) c.382G>A c.381G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.73196575G>C	CA502026248	COG1	c.384G>C (p.Pro128=) c.382G>C c.381G>C
17	g.73196575G=	CA2274431957	COG1	c.384G= (p.Pro128=) c.382G= c.381G=
17	g.73196575G>T	CA502026247	COG1	c.384G>T (p.Pro128=) c.382G>T c.381G>T	dbSNP gnomAD v3 gnomAD v4
17	g.73196579_73196589del	CA2639623035	COG1	c.388_398del (p.Lys130LeufsTer30) c.386_396del c.385_395del	gnomAD v4
17	g.73196576G>A	CA400883052	COG1	c.385G>A (p.Glu129Lys) c.383G>A c.382G>A
17	g.73196576G>C	CA400883053	COG1	c.385G>C (p.Glu129Gln) c.383G>C c.382G>C
17	g.73196576G>T	CA400883056	COG1	c.385G>T (p.Glu129Ter) c.383G>T c.382G>T
17	g.73196576_73196579delinsGAGA	CA2274431958	COG1	c.385_388delinsGAGA (p.Glu129=) c.383_386delinsGAGA c.382_385delinsGAGA
17	g.73196577A=	CA2274431959	COG1	c.386A= (p.Glu129=) c.384A= c.383A=
17	g.73196577A>C	CA400883061	COG1	c.386A>C (p.Glu129Ala) c.384A>C c.383A>C
17	g.73196577A>G	CA293799357	COG1	c.386A>G (p.Glu129Gly) c.384A>G c.383A>G	dbSNP
17	g.73196577A>T	CA400883063	COG1	c.386A>T (p.Glu129Val) c.384A>T c.383A>T
17	g.73196580_73196582del	CA8739951	COG1	c.389_391del (p.Lys130del) c.387_389del c.386_388del	dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched