Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104170_80104729del	CA2697555214	GAA	c.-32-385_143del	ClinVar
17	g.80104663_80104673del	CA2640274215	GAA	c.77_87del (p.Leu26HisfsTer5)	gnomAD v4
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=)
17	g.80104741C>A	CA401360357	GAA	c.155C>A (p.Thr52Asn)
17	g.80104741C>G	CA401360358	GAA	c.155C>G (p.Thr52Ser)
17	g.80104741C>T	CA401360359	GAA	c.155C>T (p.Thr52Ile)
17	g.80104742_80104743del	CA294886619	GAA	c.156_157del (p.His53ProfsTer?)	ClinVar dbSNP gnomAD v4
17	g.80104742T>A	CA502177151	GAA	c.156T>A (p.Thr52=)	ClinVar dbSNP
17	g.80104742T>C	CA502177152	GAA	c.156T>C (p.Thr52=)
17	g.80104742T>G	CA502177150	GAA	c.156T>G (p.Thr52=)
17	g.80104743C>A	CA8814796	GAA	c.157C>A (p.His53Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104743C=	CA2277810612	GAA	c.157C= (p.His53=)
17	g.80104743C>G	CA401360360	GAA	c.157C>G (p.His53Asp)
17	g.80104743C>T	CA401360361	GAA	c.157C>T (p.His53Tyr)
17	g.80104744A=	CA2277810613	GAA	c.158A= (p.His53=)
17	g.80104744A>C	CA401360363	GAA	c.158A>C (p.His53Pro)
17	g.80104744A>G	CA8814797	GAA	c.158A>G (p.His53Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104744A>T	CA401360362	GAA	c.158A>T (p.His53Leu)
17	g.80104745C>A	CA401360364	GAA	c.159C>A (p.His53Gln)	ClinVar gnomAD v4
17	g.80104745C>G	CA401360365	GAA	c.159C>G (p.His53Gln)
17	g.80104745C>T	CA502177153	GAA	c.159C>T (p.His53=)	ClinVar dbSNP gnomAD v4
17	g.80104746C>A	CA8814798	GAA	c.160C>A (p.Pro54Thr)	dbSNP ExAC gnomAD v4
17	g.80104746C=	CA2277810614	GAA	c.160C= (p.Pro54=)
17	g.80104746C>G	CA401360366	GAA	c.160C>G (p.Pro54Ala)
17	g.80104746C>T	CA401360367	GAA	c.160C>T (p.Pro54Ser)	dbSNP
17	g.80104747C>A	CA401360368	GAA	c.161C>A (p.Pro54Gln)
17	g.80104747C=	CA2277810615	GAA	c.161C= (p.Pro54=)
17	g.80104747C>G	CA401360369	GAA	c.161C>G (p.Pro54Arg)
17	g.80104747C>T	CA8814799	GAA	c.161C>T (p.Pro54Leu)	ClinVar dbSNP ExAC gnomAD v2
17	g.80104748A>C	CA502177155	GAA	c.162A>C (p.Pro54=)
17	g.80104748A>G	CA502177156	GAA	c.162A>G (p.Pro54=)
17	g.80104748A>T	CA502177154	GAA	c.162A>T (p.Pro54=)
17	g.80104749G>A	CA401360370	GAA	c.163G>A (p.Ala55Thr)
17	g.80104749G>C	CA401360371	GAA	c.163G>C (p.Ala55Pro)
17	g.80104749G>T	CA401360372	GAA	c.163G>T (p.Ala55Ser)
17	g.80104750C>A	CA401360373	GAA	c.164C>A (p.Ala55Asp)
17	g.80104750C>G	CA401360374	GAA	c.164C>G (p.Ala55Gly)
17	g.80104750C>T	CA401360375	GAA	c.164C>T (p.Ala55Val)	gnomAD v4
17	g.80104751T>A	CA502177159	GAA	c.165T>A (p.Ala55=)
17	g.80104751T>C	CA502177158	GAA	c.165T>C (p.Ala55=)
17	g.80104751T>G	CA502177157	GAA	c.165T>G (p.Ala55=)
17	g.80104752C>A	CA294886642	GAA	c.166C>A (p.His56Asn)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80104752C=	CA2277810616	GAA	c.166C= (p.His56=)
17	g.80104752C>G	CA401360376	GAA	c.166C>G (p.His56Asp)	gnomAD v4
17	g.80104752C>T	CA8814800	GAA	c.166C>T (p.His56Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104753A=	CA2277810617	GAA	c.167A= (p.His56=)
17	g.80104753A>C	CA401360377	GAA	c.167A>C (p.His56Pro)
17	g.80104753A>G	CA401360378	GAA	c.167A>G (p.His56Arg)
17	g.80104753A>T	CA294886644	GAA	c.167A>T (p.His56Leu)	ClinVar dbSNP gnomAD v4
17	g.80104754C>A	CA401360380	GAA	c.168C>A (p.His56Gln)
17	g.80104754C=	CA2277810618	GAA	c.168C= (p.His56=)
17	g.80104754C>G	CA401360379	GAA	c.168C>G (p.His56Gln)
17	g.80104754C>T	CA8814801	GAA	c.168C>T (p.His56=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104755C>A	CA401360382	GAA	c.169C>A (p.Gln57Lys)
17	g.80104755C=	CA2277810619	GAA	c.169C= (p.Gln57=)
17	g.80104755C>G	CA401360381	GAA	c.169C>G (p.Gln57Glu)	gnomAD v3 gnomAD v4
17	g.80104755C>T	CA16041879	GAA	c.169C>T (p.Gln57Ter)	ClinVar dbSNP
17	g.80104756A=	CA2277810620	GAA	c.170A= (p.Gln57=)
17	g.80104756A>C	CA401360383	GAA	c.170A>C (p.Gln57Pro)
17	g.80104756A>G	CA401360385	GAA	c.170A>G (p.Gln57Arg)	dbSNP
17	g.80104756A>T	CA401360384	GAA	c.170A>T (p.Gln57Leu)
17	g.80104757G>A	CA502177160	GAA	c.171G>A (p.Gln57=)
17	g.80104757G>C	CA401360386	GAA	c.171G>C (p.Gln57His)
17	g.80104757G>T	CA401360387	GAA	c.171G>T (p.Gln57His)
17	g.80104758C>A	CA401360388	GAA	c.172C>A (p.Gln58Lys)
17	g.80104758C=	CA2277810621	GAA	c.172C= (p.Gln58=)
17	g.80104758C>G	CA401360389	GAA	c.172C>G (p.Gln58Glu)
17	g.80104758C>T	CA274104	GAA	c.172C>T (p.Gln58Ter)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
17	g.80104759A>C	CA401360390	GAA	c.173A>C (p.Gln58Pro)
17	g.80104759A>G	CA401360391	GAA	c.173A>G (p.Gln58Arg)
17	g.80104759A>T	CA401360392	GAA	c.173A>T (p.Gln58Leu)
17	g.80104760G>A	CA502177161	GAA	c.174G>A (p.Gln58=)	gnomAD v4
17	g.80104760G>C	CA294886669	GAA	c.174G>C (p.Gln58His)	dbSNP
17	g.80104760G=	CA2277810622	GAA	c.174G= (p.Gln58=)
17	g.80104760G>T	CA401360393	GAA	c.174G>T (p.Gln58His)
17	g.80104761G>A	CA401360394	GAA	c.175G>A (p.Gly59Arg)
17	g.80104761G>C	CA8814802	GAA	c.175G>C (p.Gly59Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104761G=	CA2277810623	GAA	c.175G= (p.Gly59=)
17	g.80104761G>T	CA401360395	GAA	c.175G>T (p.Gly59Ter)	dbSNP gnomAD v3 gnomAD v4
17	g.80104762G>A	CA8814803	GAA	c.176G>A (p.Gly59Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104762G>C	CA401360397	GAA	c.176G>C (p.Gly59Ala)
17	g.80104762G=	CA2277810624	GAA	c.176G= (p.Gly59=)
17	g.80104762G>T	CA401360396	GAA	c.176G>T (p.Gly59Val)
17	g.80104763A>C	CA502177162	GAA	c.177A>C (p.Gly59=)
17	g.80104763A>G	CA502177163	GAA	c.177A>G (p.Gly59=)
17	g.80104763A>T	CA502177164	GAA	c.177A>T (p.Gly59=)
17	g.80104764G>A	CA401360398	GAA	c.178G>A (p.Ala60Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.80104764G>C	CA401360399	GAA	c.178G>C (p.Ala60Pro)
17	g.80104764G=	CA2277810625	GAA	c.178G= (p.Ala60=)
17	g.80104764G>T	CA401360400	GAA	c.178G>T (p.Ala60Ser)	gnomAD v4
17	g.80104765C>A	CA401360401	GAA	c.179C>A (p.Ala60Asp)	dbSNP gnomAD v4
17	g.80104765C=	CA2277810626	GAA	c.179C= (p.Ala60=)
17	g.80104765C>G	CA401360402	GAA	c.179C>G (p.Ala60Gly)	gnomAD v4
17	g.80104765C>T	CA401360403	GAA	c.179C>T (p.Ala60Val)
17	g.80104766C>A	CA502177165	GAA	c.180C>A (p.Ala60=)
17	g.80104766C=	CA2277810627	GAA	c.180C= (p.Ala60=)
17	g.80104766C>G	CA502177166	GAA	c.180C>G (p.Ala60=)	ClinVar dbSNP gnomAD v4
17	g.80104766C>T	CA502177167	GAA	c.180C>T (p.Ala60=)
17	g.80104767A>C	CA401360404	GAA	c.181A>C (p.Ser61Arg)
17	g.80104767A>G	CA401360405	GAA	c.181A>G (p.Ser61Gly)
17	g.80104767A>T	CA401360406	GAA	c.181A>T (p.Ser61Cys)

Number of alleles fetched