Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104170_80104729del	CA2697555214	GAA	c.-32-385_143del	ClinVar
17	g.80104638_80104640del	CA2640274157	GAA	c.52_54del (p.Leu18del)	gnomAD v4
17	g.80104640C>A	CA502177006	GAA	c.54C>A (p.Leu18=)
17	g.80104640C=	CA2277810560	GAA	c.54C= (p.Leu18=)
17	g.80104640C>G	CA502177008	GAA	c.54C>G (p.Leu18=)	ClinVar dbSNP gnomAD v4
17	g.80104640C>T	CA10647040	GAA	c.54C>T (p.Leu18=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104640_80104641del	CA913014071	GAA	c.54_55del (p.Ser20LeufsTer14)
17	g.80104640_80104641delinsCG	CA2277810561	GAA	c.54_55delinsCG (p.Leu18=)
17	g.80104641del	CA658824772	GAA	c.55del (p.Val19CysfsTer24)	ClinVar dbSNP
17	g.80104641G>A	CA8814774	GAA	c.55G>A (p.Val19Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104641G>C	CA401360073	GAA	c.55G>C (p.Val19Leu)
17	g.80104641G=	CA2277810562	GAA	c.55G= (p.Val19=)
17	g.80104641G>T	CA401360075	GAA	c.55G>T (p.Val19Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.80104642T>A	CA401360077	GAA	c.56T>A (p.Val19Glu)
17	g.80104642T>C	CA401360079	GAA	c.56T>C (p.Val19Ala)	gnomAD v4
17	g.80104642T>G	CA401360081	GAA	c.56T>G (p.Val19Gly)
17	g.80104643G>A	CA502177014	GAA	c.57G>A (p.Val19=)
17	g.80104643G>C	CA502177016	GAA	c.57G>C (p.Val19=)
17	g.80104643G>T	CA502177020	GAA	c.57G>T (p.Val19=)
17	g.80104644T>A	CA401360089	GAA	c.58T>A (p.Ser20Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104644T>C	CA401360084	GAA	c.58T>C (p.Ser20Pro)
17	g.80104644T>G	CA401360086	GAA	c.58T>G (p.Ser20Ala)
17	g.80104644T=	CA2277810563	GAA	c.58T= (p.Ser20=)
17	g.80104645C>A	CA401360091	GAA	c.59C>A (p.Ser20Tyr)
17	g.80104645C=	CA2277810564	GAA	c.59C= (p.Ser20=)
17	g.80104645C>G	CA16607527	GAA	c.59C>G (p.Ser20Cys)	ClinVar dbSNP gnomAD v4
17	g.80104645C>T	CA8814775	GAA	c.59C>T (p.Ser20Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104646C>A	CA502177027	GAA	c.60C>A (p.Ser20=)
17	g.80104646C=	CA2277810565	GAA	c.60C= (p.Ser20=)
17	g.80104646C>G	CA502177028	GAA	c.60C>G (p.Ser20=)	dbSNP gnomAD v4
17	g.80104646C>T	CA502177029	GAA	c.60C>T (p.Ser20=)
17	g.80104647T>A	CA401360095	GAA	c.61T>A (p.Leu21Met)
17	g.80104647T>C	CA502177030	GAA	c.61T>C (p.Leu21=)
17	g.80104647T>G	CA401360097	GAA	c.61T>G (p.Leu21Val)
17	g.80104648T>A	CA401360100	GAA	c.62T>A (p.Leu21Ter)
17	g.80104648T>C	CA401360104	GAA	c.62T>C (p.Leu21Ser)
17	g.80104648T>G	CA401360102	GAA	c.62T>G (p.Leu21Trp)
17	g.80104649G>A	CA502177034	GAA	c.63G>A (p.Leu21=)
17	g.80104649G>C	CA401360106	GAA	c.63G>C (p.Leu21Phe)
17	g.80104649G>T	CA401360108	GAA	c.63G>T (p.Leu21Phe)	gnomAD v4
17	g.80104650G>A	CA401360111	GAA	c.64G>A (p.Ala22Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.80104650G>C	CA401360113	GAA	c.64G>C (p.Ala22Pro)
17	g.80104650G=	CA2277810566	GAA	c.64G= (p.Ala22=)
17	g.80104650G>T	CA401360116	GAA	c.64G>T (p.Ala22Ser)
17	g.80104651C>A	CA401360119	GAA	c.65C>A (p.Ala22Glu)	gnomAD v4
17	g.80104651C=	CA2277810567	GAA	c.65C= (p.Ala22=)
17	g.80104651C>G	CA401360121	GAA	c.65C>G (p.Ala22Gly)
17	g.80104651C>T	CA8814776	GAA	c.65C>T (p.Ala22Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104652A>C	CA502177040	GAA	c.66A>C (p.Ala22=)	gnomAD v4
17	g.80104652A>G	CA502177041	GAA	c.66A>G (p.Ala22=)
17	g.80104652A>T	CA502177043	GAA	c.66A>T (p.Ala22=)	gnomAD v4
17	g.80104653A=	CA2277810568	GAA	c.67A= (p.Thr23=)
17	g.80104653A>C	CA401360126	GAA	c.67A>C (p.Thr23Pro)	gnomAD v4
17	g.80104653A>G	CA8814777	GAA	c.67A>G (p.Thr23Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104653A>T	CA401360129	GAA	c.67A>T (p.Thr23Ser)
17	g.80104654C>A	CA401360132	GAA	c.68C>A (p.Thr23Asn)
17	g.80104654C=	CA2277810569	GAA	c.68C= (p.Thr23=)
17	g.80104654C>G	CA401360136	GAA	c.68C>G (p.Thr23Ser)
17	g.80104654C>T	CA401360134	GAA	c.68C>T (p.Thr23Ile)	ClinVar dbSNP
17	g.80104655C>A	CA8814778	GAA	c.69C>A (p.Thr23=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104655C=	CA2277810570	GAA	c.69C= (p.Thr23=)
17	g.80104655C>G	CA502177050	GAA	c.69C>G (p.Thr23=)	gnomAD v4
17	g.80104655C>T	CA8814779	GAA	c.69C>T (p.Thr23=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104656G>A	CA8814780	GAA	c.70G>A (p.Ala24Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104656G>C	CA401360144	GAA	c.70G>C (p.Ala24Pro)
17	g.80104656G=	CA2277810571	GAA	c.70G= (p.Ala24=)
17	g.80104656G>T	CA401360146	GAA	c.70G>T (p.Ala24Ser)
17	g.80104657C>A	CA401360149	GAA	c.71C>A (p.Ala24Asp)
17	g.80104657C=	CA2277810572	GAA	c.71C= (p.Ala24=)
17	g.80104657C>G	CA401360152	GAA	c.71C>G (p.Ala24Gly)
17	g.80104657C>T	CA294886529	GAA	c.71C>T (p.Ala24Val)	dbSNP
17	g.80104658T>A	CA502177056	GAA	c.72T>A (p.Ala24=)
17	g.80104658T>C	CA8814781	GAA	c.72T>C (p.Ala24=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104658T>G	CA502177059	GAA	c.72T>G (p.Ala24=)
17	g.80104658T=	CA2277810573	GAA	c.72T= (p.Ala24=)
17	g.80104659G>A	CA401360158	GAA	c.73G>A (p.Ala25Thr)	gnomAD v4
17	g.80104659G>C	CA401360161	GAA	c.73G>C (p.Ala25Pro)
17	g.80104659G>T	CA401360163	GAA	c.73G>T (p.Ala25Ser)	gnomAD v4
17	g.80104663_80104673del	CA2640274215	GAA	c.77_87del (p.Leu26HisfsTer5)	gnomAD v4
17	g.80104660C>A	CA401360170	GAA	c.74C>A (p.Ala25Glu)
17	g.80104660C=	CA2277810574	GAA	c.74C= (p.Ala25=)
17	g.80104660C>G	CA401360166	GAA	c.74C>G (p.Ala25Gly)
17	g.80104660C>T	CA8814782	GAA	c.74C>T (p.Ala25Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104661A=	CA2277810575	GAA	c.75A= (p.Ala25=)
17	g.80104661A>C	CA502177064	GAA	c.75A>C (p.Ala25=)	ClinVar dbSNP
17	g.80104661A>G	CA502177066	GAA	c.75A>G (p.Ala25=)	ClinVar dbSNP gnomAD v4
17	g.80104661A>T	CA502177068	GAA	c.75A>T (p.Ala25=)	ClinVar
17	g.80104662C>A	CA401360172	GAA	c.76C>A (p.Leu26Ile)
17	g.80104662C=	CA2277810576	GAA	c.76C= (p.Leu26=)
17	g.80104662C>G	CA401360174	GAA	c.76C>G (p.Leu26Val)
17	g.80104662C>T	CA8814783	GAA	c.76C>T (p.Leu26Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104663T>A	CA401360178	GAA	c.77T>A (p.Leu26His)
17	g.80104663T>C	CA401360180	GAA	c.77T>C (p.Leu26Pro)
17	g.80104663T>G	CA401360183	GAA	c.77T>G (p.Leu26Arg)	ClinVar dbSNP
17	g.80104663T=	CA2277810577	GAA	c.77T= (p.Leu26=)
17	g.80104664C>A	CA502177073	GAA	c.78C>A (p.Leu26=)
17	g.80104664C>G	CA502177074	GAA	c.78C>G (p.Leu26=)
17	g.80104664C>T	CA502177072	GAA	c.78C>T (p.Leu26=)	ClinVar dbSNP gnomAD v4
17	g.80104665C>A	CA401360186	GAA	c.79C>A (p.Leu27Met)
17	g.80104665C=	CA2277810578	GAA	c.79C= (p.Leu27=)
17	g.80104665C>G	CA8814784	GAA	c.79C>G (p.Leu27Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104665C>T	CA502177075	GAA	c.79C>T (p.Leu27=)	ClinVar dbSNP gnomAD v4
17	g.80104666T>A	CA401360189	GAA	c.80T>A (p.Leu27Gln)
17	g.80104666T>C	CA401360190	GAA	c.80T>C (p.Leu27Pro)
17	g.80104666T>G	CA401360192	GAA	c.80T>G (p.Leu27Arg)
17	g.80104667G>A	CA502177076	GAA	c.81G>A (p.Leu27=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104667G>C	CA502177077	GAA	c.81G>C (p.Leu27=)
17	g.80104667G=	CA2277810579	GAA	c.81G= (p.Leu27=)
17	g.80104667G>T	CA502177078	GAA	c.81G>T (p.Leu27=)	gnomAD v4
17	g.80104670dup	CA2695200345	GAA	c.84dup (p.His29AlafsTer6)	ClinVar
17	g.80104668G>A	CA294886548	GAA	c.82G>A (p.Gly28Arg)	dbSNP
17	g.80104668G>C	CA401360197	GAA	c.82G>C (p.Gly28Arg)
17	g.80104668G=	CA2277810580	GAA	c.82G= (p.Gly28=)
17	g.80104668G>T	CA401360195	GAA	c.82G>T (p.Gly28Trp)
17	g.80104669G>A	CA401360200	GAA	c.83G>A (p.Gly28Glu)	dbSNP gnomAD v4
17	g.80104669G>C	CA401360202	GAA	c.83G>C (p.Gly28Ala)
17	g.80104669G=	CA2277810581	GAA	c.83G= (p.Gly28=)
17	g.80104669G>T	CA10604460	GAA	c.83G>T (p.Gly28Val)	ClinVar dbSNP
17	g.80104670G>A	CA8814785	GAA	c.84G>A (p.Gly28=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104670G>C	CA502177080	GAA	c.84G>C (p.Gly28=)	ClinVar
17	g.80104670G=	CA2277810582	GAA	c.84G= (p.Gly28=)
17	g.80104670G>T	CA502177079	GAA	c.84G>T (p.Gly28=)
17	g.80104671C>A	CA401360209	GAA	c.85C>A (p.His29Asn)
17	g.80104671C=	CA2277810583	GAA	c.85C= (p.His29=)
17	g.80104671C>G	CA401360211	GAA	c.85C>G (p.His29Asp)
17	g.80104671C>T	CA294886572	GAA	c.85C>T (p.His29Tyr)	dbSNP gnomAD v3 gnomAD v4
17	g.80104672A>C	CA401360220	GAA	c.86A>C (p.His29Pro)
17	g.80104672A>G	CA401360215	GAA	c.86A>G (p.His29Arg)
17	g.80104672A>T	CA401360217	GAA	c.86A>T (p.His29Leu)
17	g.80104673C>A	CA401360221	GAA	c.87C>A (p.His29Gln)
17	g.80104673C=	CA2277810584	GAA	c.87C= (p.His29=)
17	g.80104673C>G	CA401360222	GAA	c.87C>G (p.His29Gln)
17	g.80104673C>T	CA502177081	GAA	c.87C>T (p.His29=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80104674A>C	CA401360223	GAA	c.88A>C (p.Ile30Leu)
17	g.80104674A>G	CA401360224	GAA	c.88A>G (p.Ile30Val)
17	g.80104674A>T	CA401360225	GAA	c.88A>T (p.Ile30Phe)
17	g.80104675T>A	CA401360226	GAA	c.89T>A (p.Ile30Asn)
17	g.80104675T>C	CA401360228	GAA	c.89T>C (p.Ile30Thr)
17	g.80104675T>G	CA401360227	GAA	c.89T>G (p.Ile30Ser)
17	g.80104676C>A	CA502177082	GAA	c.90C>A (p.Ile30=)
17	g.80104676C>G	CA401360229	GAA	c.90C>G (p.Ile30Met)
17	g.80104676C>T	CA502177083	GAA	c.90C>T (p.Ile30=)
17	g.80104676_80104679delinsCCTA	CA2277810585	GAA	c.90_93delinsCCTA (p.Ile30=)
17	g.80104677C>A	CA401360230	GAA	c.91C>A (p.Leu31Ile)
17	g.80104677C=	CA2277810586	GAA	c.91C= (p.Leu31=)
17	g.80104677C>G	CA401360231	GAA	c.91C>G (p.Leu31Val)	dbSNP
17	g.80104677C>T	CA502177084	GAA	c.91C>T (p.Leu31=)	ClinVar dbSNP
17	g.80104679_80104681del	CA628018663	GAA	c.93_95del (p.Leu32del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104678T>A	CA401360232	GAA	c.92T>A (p.Leu31Gln)
17	g.80104678T>C	CA401360233	GAA	c.92T>C (p.Leu31Pro)
17	g.80104678T>G	CA401360234	GAA	c.92T>G (p.Leu31Arg)
17	g.80104679A>C	CA502177085	GAA	c.93A>C (p.Leu31=)
17	g.80104679A>G	CA502177086	GAA	c.93A>G (p.Leu31=)	dbSNP
17	g.80104679A>T	CA502177087	GAA	c.93A>T (p.Leu31=)
17	g.80104680C>A	CA401360235	GAA	c.94C>A (p.Leu32Ile)	gnomAD v4
17	g.80104680C>G	CA401360236	GAA	c.94C>G (p.Leu32Val)
17	g.80104680C>T	CA401360237	GAA	c.94C>T (p.Leu32Phe)
17	g.80104681T>A	CA401360238	GAA	c.95T>A (p.Leu32His)
17	g.80104681T>C	CA401360239	GAA	c.95T>C (p.Leu32Pro)
17	g.80104681T>G	CA401360240	GAA	c.95T>G (p.Leu32Arg)
17	g.80104682C>A	CA502177088	GAA	c.96C>A (p.Leu32=)
17	g.80104682C=	CA2277810587	GAA	c.96C= (p.Leu32=)
17	g.80104682C>G	CA502177089	GAA	c.96C>G (p.Leu32=)	ClinVar dbSNP
17	g.80104682C>T	CA502177090	GAA	c.96C>T (p.Leu32=)
17	g.80104683C>A	CA401360241	GAA	c.97C>A (p.His33Asn)
17	g.80104683C>G	CA401360243	GAA	c.97C>G (p.His33Asp)
17	g.80104683C>T	CA401360242	GAA	c.97C>T (p.His33Tyr)
17	g.80104684A=	CA2277810588	GAA	c.98A= (p.His33=)
17	g.80104684A>C	CA401360244	GAA	c.98A>C (p.His33Pro)	gnomAD v4
17	g.80104684A>G	CA8814786	GAA	c.98A>G (p.His33Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104684A>T	CA401360245	GAA	c.98A>T (p.His33Leu)
17	g.80104685T>A	CA401360246	GAA	c.99T>A (p.His33Gln)
17	g.80104685T>C	CA8814787	GAA	c.99T>C (p.His33=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104685T>G	CA401360247	GAA	c.99T>G (p.His33Gln)
17	g.80104685T=	CA2277810589	GAA	c.99T= (p.His33=)
17	g.80104686G>A	CA401360248	GAA	c.100G>A (p.Asp34Asn)
17	g.80104686G>C	CA401360249	GAA	c.100G>C (p.Asp34His)
17	g.80104686G=	CA2277810590	GAA	c.100G= (p.Asp34=)
17	g.80104686G>T	CA8814788	GAA	c.100G>T (p.Asp34Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104687A>C	CA401360250	GAA	c.101A>C (p.Asp34Ala)
17	g.80104687A>G	CA401360251	GAA	c.101A>G (p.Asp34Gly)	gnomAD v4
17	g.80104687A>T	CA401360252	GAA	c.101A>T (p.Asp34Val)
17	g.80104688T>A	CA401360254	GAA	c.102T>A (p.Asp34Glu)	gnomAD v4
17	g.80104688T>C	CA502177091	GAA	c.102T>C (p.Asp34=)
17	g.80104688T>G	CA401360253	GAA	c.102T>G (p.Asp34Glu)
17	g.80104689T>A	CA401360255	GAA	c.103T>A (p.Phe35Ile)
17	g.80104689T>C	CA401360256	GAA	c.103T>C (p.Phe35Leu)	dbSNP
17	g.80104689T>G	CA401360257	GAA	c.103T>G (p.Phe35Val)	COSMIC
17	g.80104689T=	CA2277810591	GAA	c.103T= (p.Phe35=)
17	g.80104690T>A	CA401360258	GAA	c.104T>A (p.Phe35Tyr)
17	g.80104690T>C	CA401360259	GAA	c.104T>C (p.Phe35Ser)
17	g.80104690T>G	CA401360260	GAA	c.104T>G (p.Phe35Cys)
17	g.80104691C>A	CA401360261	GAA	c.105C>A (p.Phe35Leu)	gnomAD v4
17	g.80104691C>G	CA401360262	GAA	c.105C>G (p.Phe35Leu)
17	g.80104691C>T	CA502177092	GAA	c.105C>T (p.Phe35=)	ClinVar gnomAD v4
17	g.80104692C>A	CA401360263	GAA	c.106C>A (p.Leu36Met)	gnomAD v4
17	g.80104692C>G	CA401360264	GAA	c.106C>G (p.Leu36Val)
17	g.80104692C>T	CA502177093	GAA	c.106C>T (p.Leu36=)	gnomAD v4
17	g.80104693T>A	CA401360265	GAA	c.107T>A (p.Leu36Gln)
17	g.80104693T>C	CA401360266	GAA	c.107T>C (p.Leu36Pro)
17	g.80104693T>G	CA401360267	GAA	c.107T>G (p.Leu36Arg)
17	g.80104694G>A	CA502177095	GAA	c.108G>A (p.Leu36=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80104694G>C	CA502177096	GAA	c.108G>C (p.Leu36=)	ClinVar dbSNP
17	g.80104694G=	CA2277810592	GAA	c.108G= (p.Leu36=)
17	g.80104694G>T	CA502177097	GAA	c.108G>T (p.Leu36=)	ClinVar dbSNP
17	g.80104695C>A	CA401360268	GAA	c.109C>A (p.Leu37Met)
17	g.80104695C=	CA2277810593	GAA	c.109C= (p.Leu37=)
17	g.80104695C>G	CA8814789	GAA	c.109C>G (p.Leu37Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104695C>T	CA502177099	GAA	c.109C>T (p.Leu37=)
17	g.80104696T>A	CA401360269	GAA	c.110T>A (p.Leu37Gln)
17	g.80104696T>C	CA401360271	GAA	c.110T>C (p.Leu37Pro)
17	g.80104696T>G	CA401360270	GAA	c.110T>G (p.Leu37Arg)
17	g.80104697G>A	CA502177102	GAA	c.111G>A (p.Leu37=)
17	g.80104697G>C	CA502177104	GAA	c.111G>C (p.Leu37=)
17	g.80104697G>T	CA502177105	GAA	c.111G>T (p.Leu37=)
17	g.80104698G>A	CA401360272	GAA	c.112G>A (p.Val38Ile)
17	g.80104698G>C	CA401360274	GAA	c.112G>C (p.Val38Leu)
17	g.80104698G>T	CA401360273	GAA	c.112G>T (p.Val38Phe)
17	g.80104699T>A	CA401360275	GAA	c.113T>A (p.Val38Asp)
17	g.80104699T>C	CA401360277	GAA	c.113T>C (p.Val38Ala)	gnomAD v4
17	g.80104699T>G	CA401360276	GAA	c.113T>G (p.Val38Gly)
17	g.80104700T>A	CA502177110	GAA	c.114T>A (p.Val38=)
17	g.80104700T>C	CA502177111	GAA	c.114T>C (p.Val38=)
17	g.80104700T>G	CA502177112	GAA	c.114T>G (p.Val38=)
17	g.80104701C>A	CA401360278	GAA	c.115C>A (p.Pro39Thr)	ClinVar dbSNP
17	g.80104701C=	CA2277810594	GAA	c.115C= (p.Pro39=)
17	g.80104701C>G	CA401360279	GAA	c.115C>G (p.Pro39Ala)
17	g.80104701C>T	CA8814790	GAA	c.115C>T (p.Pro39Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104702C>A	CA401360280	GAA	c.116C>A (p.Pro39His)
17	g.80104702C=	CA2277810595	GAA	c.116C= (p.Pro39=)
17	g.80104702C>G	CA401360281	GAA	c.116C>G (p.Pro39Arg)
17	g.80104702C>T	CA401360282	GAA	c.116C>T (p.Pro39Leu)	ClinVar dbSNP gnomAD v4
17	g.80104703C>A	CA502177114	GAA	c.117C>A (p.Pro39=)
17	g.80104703C=	CA2277810596	GAA	c.117C= (p.Pro39=)
17	g.80104703C>G	CA502177115	GAA	c.117C>G (p.Pro39=)
17	g.80104703C>T	CA502177116	GAA	c.117C>T (p.Pro39=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104704C>A	CA502177117	GAA	c.118C>A (p.Arg40=)
17	g.80104704C=	CA2277810597	GAA	c.118C= (p.Arg40=)
17	g.80104704C>G	CA401360283	GAA	c.118C>G (p.Arg40Gly)	ClinVar dbSNP gnomAD v4 COSMIC
17	g.80104704C>T	CA8814791	GAA	c.118C>T (p.Arg40Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104705G>A	CA8814792	GAA	c.119G>A (p.Arg40Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104705G>C	CA401360284	GAA	c.119G>C (p.Arg40Pro)
17	g.80104705G=	CA2277810598	GAA	c.119G= (p.Arg40=)
17	g.80104705G>T	CA401360285	GAA	c.119G>T (p.Arg40Leu)
17	g.80104706A>C	CA502177121	GAA	c.120A>C (p.Arg40=)
17	g.80104706A>G	CA502177122	GAA	c.120A>G (p.Arg40=)
17	g.80104706A>T	CA502177120	GAA	c.120A>T (p.Arg40=)
17	g.80104707G>A	CA401360288	GAA	c.121G>A (p.Glu41Lys)
17	g.80104707G>C	CA401360286	GAA	c.121G>C (p.Glu41Gln)
17	g.80104707G>T	CA401360287	GAA	c.121G>T (p.Glu41Ter)
17	g.80104708A>C	CA401360289	GAA	c.122A>C (p.Glu41Ala)
17	g.80104708A>G	CA401360290	GAA	c.122A>G (p.Glu41Gly)
17	g.80104708A>T	CA401360291	GAA	c.122A>T (p.Glu41Val)
17	g.80104709G>A	CA502177123	GAA	c.123G>A (p.Glu41=)
17	g.80104709G>C	CA401360292	GAA	c.123G>C (p.Glu41Asp)
17	g.80104709G>T	CA401360293	GAA	c.123G>T (p.Glu41Asp)
17	g.80104710C>A	CA401360294	GAA	c.124C>A (p.Leu42Met)
17	g.80104710C>G	CA401360295	GAA	c.124C>G (p.Leu42Val)	gnomAD v4
17	g.80104710C>T	CA502177126	GAA	c.124C>T (p.Leu42=)	gnomAD v4
17	g.80104711T>A	CA401360296	GAA	c.125T>A (p.Leu42Gln)
17	g.80104711T>C	CA401360297	GAA	c.125T>C (p.Leu42Pro)	gnomAD v4
17	g.80104711T>G	CA401360298	GAA	c.125T>G (p.Leu42Arg)	gnomAD v4
17	g.80104712G>A	CA502177127	GAA	c.126G>A (p.Leu42=)	gnomAD v4
17	g.80104712G>C	CA502177128	GAA	c.126G>C (p.Leu42=)	ClinVar dbSNP
17	g.80104712G>T	CA502177129	GAA	c.126G>T (p.Leu42=)
17	g.80104713A>C	CA401360300	GAA	c.127A>C (p.Ser43Arg)
17	g.80104713A>G	CA401360301	GAA	c.127A>G (p.Ser43Gly)
17	g.80104713A>T	CA401360299	GAA	c.127A>T (p.Ser43Cys)
17	g.80104714G>A	CA401360302	GAA	c.128G>A (p.Ser43Asn)	gnomAD v4
17	g.80104714G>C	CA401360303	GAA	c.128G>C (p.Ser43Thr)	gnomAD v4
17	g.80104714G>T	CA401360304	GAA	c.128G>T (p.Ser43Ile)
17	g.80104715T>A	CA401360305	GAA	c.129T>A (p.Ser43Arg)
17	g.80104715T>C	CA502177130	GAA	c.129T>C (p.Ser43=)	gnomAD v4
17	g.80104715T>G	CA401360306	GAA	c.129T>G (p.Ser43Arg)
17	g.80104716G>A	CA401360307	GAA	c.130G>A (p.Gly44Ser)
17	g.80104716G>C	CA401360308	GAA	c.130G>C (p.Gly44Arg)
17	g.80104716G>T	CA401360309	GAA	c.130G>T (p.Gly44Cys)
17	g.80104717G>A	CA401360310	GAA	c.131G>A (p.Gly44Asp)	dbSNP gnomAD v2 gnomAD v4
17	g.80104717G>C	CA401360311	GAA	c.131G>C (p.Gly44Ala)
17	g.80104717G=	CA2277810599	GAA	c.131G= (p.Gly44=)
17	g.80104717G>T	CA8814793	GAA	c.131G>T (p.Gly44Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104718C>A	CA502177131	GAA	c.132C>A (p.Gly44=)
17	g.80104718C>G	CA502177132	GAA	c.132C>G (p.Gly44=)
17	g.80104718C>T	CA502177133	GAA	c.132C>T (p.Gly44=)	ClinVar dbSNP gnomAD v4
17	g.80104719del	CA2695200346	GAA	c.133del (p.Ser45ProfsTer?)	ClinVar
17	g.80104719T>A	CA401360313	GAA	c.133T>A (p.Ser45Thr)
17	g.80104719T>C	CA401360314	GAA	c.133T>C (p.Ser45Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104719T>G	CA401360312	GAA	c.133T>G (p.Ser45Ala)	ClinVar dbSNP
17	g.80104719T=	CA2277810600	GAA	c.133T= (p.Ser45=)
17	g.80104720C>A	CA401360315	GAA	c.134C>A (p.Ser45Tyr)
17	g.80104720C=	CA2277810601	GAA	c.134C= (p.Ser45=)
17	g.80104720C>G	CA401360316	GAA	c.134C>G (p.Ser45Cys)	dbSNP gnomAD v2 gnomAD v4
17	g.80104720C>T	CA401360317	GAA	c.134C>T (p.Ser45Phe)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104721C>A	CA502177134	GAA	c.135C>A (p.Ser45=)
17	g.80104721C>G	CA502177135	GAA	c.135C>G (p.Ser45=)
17	g.80104721C>T	CA502177136	GAA	c.135C>T (p.Ser45=)	ClinVar dbSNP
17	g.80104722T>A	CA401360318	GAA	c.136T>A (p.Ser46Thr)
17	g.80104722T>C	CA8814794	GAA	c.136T>C (p.Ser46Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104722T>G	CA401360319	GAA	c.136T>G (p.Ser46Ala)
17	g.80104722T=	CA2277810602	GAA	c.136T= (p.Ser46=)
17	g.80104723C>A	CA401360320	GAA	c.137C>A (p.Ser46Tyr)
17	g.80104723C=	CA2277810603	GAA	c.137C= (p.Ser46=)
17	g.80104723C>G	CA401360322	GAA	c.137C>G (p.Ser46Cys)
17	g.80104723C>T	CA401360321	GAA	c.137C>T (p.Ser46Phe)	dbSNP gnomAD v2 gnomAD v4
17	g.80104724C>A	CA502177137	GAA	c.138C>A (p.Ser46=)
17	g.80104724C=	CA2277810604	GAA	c.138C= (p.Ser46=)
17	g.80104724C>G	CA502177138	GAA	c.138C>G (p.Ser46=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104724C>T	CA8814795	GAA	c.138C>T (p.Ser46=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104725C>A	CA401360323	GAA	c.139C>A (p.Pro47Thr)
17	g.80104725C=	CA2277810605	GAA	c.139C= (p.Pro47=)
17	g.80104725C>G	CA401360324	GAA	c.139C>G (p.Pro47Ala)
17	g.80104725C>T	CA294886602	GAA	c.139C>T (p.Pro47Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.80104726C>A	CA401360327	GAA	c.140C>A (p.Pro47Gln)
17	g.80104726C>G	CA401360326	GAA	c.140C>G (p.Pro47Arg)
17	g.80104726C>T	CA401360325	GAA	c.140C>T (p.Pro47Leu)
17	g.80104727A>C	CA502177140	GAA	c.141A>C (p.Pro47=)
17	g.80104727A>G	CA502177141	GAA	c.141A>G (p.Pro47=)
17	g.80104727A>T	CA502177139	GAA	c.141A>T (p.Pro47=)
17	g.80104728G>A	CA401360328	GAA	c.142G>A (p.Val48Ile)
17	g.80104728G>C	CA401360330	GAA	c.142G>C (p.Val48Leu)
17	g.80104728G>T	CA401360329	GAA	c.142G>T (p.Val48Phe)
17	g.80104729T>A	CA401360331	GAA	c.143T>A (p.Val48Asp)	gnomAD v4
17	g.80104729T>C	CA401360332	GAA	c.143T>C (p.Val48Ala)
17	g.80104729T>G	CA401360333	GAA	c.143T>G (p.Val48Gly)
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80104730C>A	CA502177142	GAA	c.144C>A (p.Val48=)	ClinVar
17	g.80104730C=	CA2277810606	GAA	c.144C= (p.Val48=)
17	g.80104730C>G	CA502177143	GAA	c.144C>G (p.Val48=)
17	g.80104730C>T	CA294886609	GAA	c.144C>T (p.Val48=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104731C>A	CA401360334	GAA	c.145C>A (p.Leu49Met)
17	g.80104731C>G	CA401360335	GAA	c.145C>G (p.Leu49Val)
17	g.80104731C>T	CA502177144	GAA	c.145C>T (p.Leu49=)
17	g.80104732T>A	CA401360336	GAA	c.146T>A (p.Leu49Gln)
17	g.80104732T>C	CA401360337	GAA	c.146T>C (p.Leu49Pro)
17	g.80104732T>G	CA401360338	GAA	c.146T>G (p.Leu49Arg)
17	g.80104733G>A	CA294886613	GAA	c.147G>A (p.Leu49=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104733G>C	CA502177146	GAA	c.147G>C (p.Leu49=)
17	g.80104733G=	CA2277810607	GAA	c.147G= (p.Leu49=)
17	g.80104733G>T	CA502177147	GAA	c.147G>T (p.Leu49=)
17	g.80104734G>A	CA401360339	GAA	c.148G>A (p.Glu50Lys)	ClinVar dbSNP
17	g.80104734G>C	CA401360340	GAA	c.148G>C (p.Glu50Gln)
17	g.80104734G=	CA2277810608	GAA	c.148G= (p.Glu50=)
17	g.80104734G>T	CA401360341	GAA	c.148G>T (p.Glu50Ter)	ClinVar dbSNP
17	g.80104735A>C	CA401360344	GAA	c.149A>C (p.Glu50Ala)
17	g.80104735A>G	CA401360342	GAA	c.149A>G (p.Glu50Gly)	dbSNP
17	g.80104735A>T	CA401360343	GAA	c.149A>T (p.Glu50Val)
17	g.80104736G>A	CA502177148	GAA	c.150G>A (p.Glu50=)
17	g.80104736G>C	CA401360345	GAA	c.150G>C (p.Glu50Asp)
17	g.80104736G>T	CA401360346	GAA	c.150G>T (p.Glu50Asp)
17	g.80104737G>A	CA401360347	GAA	c.151G>A (p.Glu51Lys)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80104737G>C	CA401360348	GAA	c.151G>C (p.Glu51Gln)	gnomAD v4
17	g.80104737G=	CA2277810609	GAA	c.151G= (p.Glu51=)
17	g.80104737G>T	CA401360349	GAA	c.151G>T (p.Glu51Ter)
17	g.80104738A=	CA2277810610	GAA	c.152A= (p.Glu51=)
17	g.80104738A>C	CA401360350	GAA	c.152A>C (p.Glu51Ala)
17	g.80104738A>G	CA294886615	GAA	c.152A>G (p.Glu51Gly)	dbSNP gnomAD v3 gnomAD v4
17	g.80104738A>T	CA401360351	GAA	c.152A>T (p.Glu51Val)
17	g.80104739G>A	CA502177149	GAA	c.153G>A (p.Glu51=)
17	g.80104739G>C	CA401360352	GAA	c.153G>C (p.Glu51Asp)
17	g.80104739G>T	CA401360353	GAA	c.153G>T (p.Glu51Asp)
17	g.80104740A>C	CA401360355	GAA	c.154A>C (p.Thr52Pro)	dbSNP
17	g.80104740A>G	CA401360356	GAA	c.154A>G (p.Thr52Ala)	dbSNP
17	g.80104740A>T	CA401360354	GAA	c.154A>T (p.Thr52Ser)
17	g.80104740_80104742delinsACT	CA2277810611	GAA	c.154_156delinsACT (p.Thr52=)

Number of alleles fetched