Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104170_80104729del	CA2697555214	GAA	c.-32-385_143del	ClinVar
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)
17	g.80104768G>A	CA401360409	GAA	c.182G>A (p.Ser61Asn)
17	g.80104768G>C	CA401360408	GAA	c.182G>C (p.Ser61Thr)
17	g.80104768G>T	CA401360407	GAA	c.182G>T (p.Ser61Ile)
17	g.80104769C>A	CA401360410	GAA	c.183C>A (p.Ser61Arg)	dbSNP gnomAD v2
17	g.80104769C=	CA2277810628	GAA	c.183C= (p.Ser61=)
17	g.80104769C>G	CA401360411	GAA	c.183C>G (p.Ser61Arg)
17	g.80104769C>T	CA294886678	GAA	c.183C>T (p.Ser61=)	ClinVar dbSNP
17	g.80104770A>C	CA502177168	GAA	c.184A>C (p.Arg62=)
17	g.80104770A>G	CA401360412	GAA	c.184A>G (p.Arg62Gly)
17	g.80104770A>T	CA401360413	GAA	c.184A>T (p.Arg62Ter)
17	g.80104771G>A	CA401360414	GAA	c.185G>A (p.Arg62Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104771G>C	CA401360415	GAA	c.185G>C (p.Arg62Thr)
17	g.80104771G=	CA2277810629	GAA	c.185G= (p.Arg62=)
17	g.80104771G>T	CA401360416	GAA	c.185G>T (p.Arg62Ile)
17	g.80104772A>C	CA401360417	GAA	c.186A>C (p.Arg62Ser)
17	g.80104772A>G	CA502177169	GAA	c.186A>G (p.Arg62=)	dbSNP
17	g.80104772A>T	CA401360418	GAA	c.186A>T (p.Arg62Ser)
17	g.80104772_80104782dup	CA658795224	GAA	c.186_196dup (p.Arg66HisfsTer?)
17	g.80104773C>A	CA401360419	GAA	c.187C>A (p.Pro63Thr)
17	g.80104773C>G	CA401360420	GAA	c.187C>G (p.Pro63Ala)
17	g.80104773C>T	CA401360421	GAA	c.187C>T (p.Pro63Ser)	gnomAD v4
17	g.80104774C>A	CA401360424	GAA	c.188C>A (p.Pro63Gln)	gnomAD v4
17	g.80104774C=	CA2277810630	GAA	c.188C= (p.Pro63=)
17	g.80104774C>G	CA401360422	GAA	c.188C>G (p.Pro63Arg)
17	g.80104774C>T	CA401360423	GAA	c.188C>T (p.Pro63Leu)	dbSNP gnomAD v2
17	g.80104775A=	CA2277810631	GAA	c.189A= (p.Pro63=)
17	g.80104775A>C	CA502177173	GAA	c.189A>C (p.Pro63=)	ClinVar
17	g.80104775A>G	CA502177172	GAA	c.189A>G (p.Pro63=)	dbSNP gnomAD v3 gnomAD v4
17	g.80104775A>T	CA502177171	GAA	c.189A>T (p.Pro63=)
17	g.80104776G>A	CA401360425	GAA	c.190G>A (p.Gly64Arg)
17	g.80104776G>C	CA401360426	GAA	c.190G>C (p.Gly64Arg)
17	g.80104776G>T	CA401360427	GAA	c.190G>T (p.Gly64Trp)	COSMIC
17	g.80104777G>A	CA294886682	GAA	c.191G>A (p.Gly64Glu)	dbSNP
17	g.80104777G>C	CA401360428	GAA	c.191G>C (p.Gly64Ala)
17	g.80104777G=	CA2277810632	GAA	c.191G= (p.Gly64=)
17	g.80104777G>T	CA401360429	GAA	c.191G>T (p.Gly64Val)
17	g.80104778G>A	CA502177175	GAA	c.192G>A (p.Gly64=)	gnomAD v4
17	g.80104778G>C	CA502177176	GAA	c.192G>C (p.Gly64=)
17	g.80104778G>T	CA502177177	GAA	c.192G>T (p.Gly64=)
17	g.80104779C>A	CA401360430	GAA	c.193C>A (p.Pro65Thr)	dbSNP
17	g.80104779C=	CA2277810633	GAA	c.193C= (p.Pro65=)
17	g.80104779C>G	CA401360431	GAA	c.193C>G (p.Pro65Ala)
17	g.80104779C>T	CA401360432	GAA	c.193C>T (p.Pro65Ser)	ClinVar dbSNP gnomAD v4
17	g.80104780C>A	CA401360433	GAA	c.194C>A (p.Pro65His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104780C=	CA2277810634	GAA	c.194C= (p.Pro65=)
17	g.80104780C>G	CA401360434	GAA	c.194C>G (p.Pro65Arg)	gnomAD v4
17	g.80104780C>T	CA401360435	GAA	c.194C>T (p.Pro65Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80104781C>A	CA502177178	GAA	c.195C>A (p.Pro65=)
17	g.80104781C>G	CA502177179	GAA	c.195C>G (p.Pro65=)
17	g.80104781C>T	CA502177180	GAA	c.195C>T (p.Pro65=)
17	g.80104782C>A	CA502177181	GAA	c.196C>A (p.Arg66=)
17	g.80104782C=	CA2277810635	GAA	c.196C= (p.Arg66=)
17	g.80104782C>G	CA401360436	GAA	c.196C>G (p.Arg66Gly)	gnomAD v4
17	g.80104782C>T	CA294886701	GAA	c.196C>T (p.Arg66Trp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104783G>A	CA8814804	GAA	c.197G>A (p.Arg66Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104783G>C	CA401360437	GAA	c.197G>C (p.Arg66Pro)
17	g.80104783G=	CA2277810636	GAA	c.197G= (p.Arg66=)
17	g.80104783G>T	CA401360438	GAA	c.197G>T (p.Arg66Leu)
17	g.80104785del	CA2499224997	GAA	c.199del (p.Asp67MetfsTer?)	ClinVar dbSNP
17	g.80104784G>A	CA502177182	GAA	c.198G>A (p.Arg66=)	ClinVar dbSNP
17	g.80104784G>C	CA502177183	GAA	c.198G>C (p.Arg66=)
17	g.80104784G>T	CA502177184	GAA	c.198G>T (p.Arg66=)
17	g.80104785G>A	CA401360439	GAA	c.199G>A (p.Asp67Asn)
17	g.80104785G>C	CA401360440	GAA	c.199G>C (p.Asp67His)
17	g.80104785G>T	CA401360441	GAA	c.199G>T (p.Asp67Tyr)
17	g.80104786A>C	CA401360442	GAA	c.200A>C (p.Asp67Ala)
17	g.80104786A>G	CA401360443	GAA	c.200A>G (p.Asp67Gly)
17	g.80104786A>T	CA401360444	GAA	c.200A>T (p.Asp67Val)
17	g.80104787T>A	CA401360445	GAA	c.201T>A (p.Asp67Glu)
17	g.80104787T>C	CA502177185	GAA	c.201T>C (p.Asp67=)
17	g.80104787T>G	CA401360446	GAA	c.201T>G (p.Asp67Glu)
17	g.80104788G>A	CA401360447	GAA	c.202G>A (p.Ala68Thr)
17	g.80104788G>C	CA401360448	GAA	c.202G>C (p.Ala68Pro)
17	g.80104788G=	CA2277810637	GAA	c.202G= (p.Ala68=)
17	g.80104788G>T	CA401360449	GAA	c.202G>T (p.Ala68Ser)	dbSNP gnomAD v4
17	g.80104789C>A	CA401360452	GAA	c.203C>A (p.Ala68Asp)
17	g.80104789C>G	CA401360451	GAA	c.203C>G (p.Ala68Gly)
17	g.80104789C>T	CA401360450	GAA	c.203C>T (p.Ala68Val)	gnomAD v4
17	g.80104791del	CA645599493	GAA	c.205del (p.Gln69ArgfsTer?)	COSMIC
17	g.80104790C>A	CA502177186	GAA	c.204C>A (p.Ala68=)
17	g.80104790C>G	CA502177187	GAA	c.204C>G (p.Ala68=)
17	g.80104790C>T	CA502177188	GAA	c.204C>T (p.Ala68=)	ClinVar dbSNP
17	g.80104791C>A	CA401360453	GAA	c.205C>A (p.Gln69Lys)
17	g.80104791C=	CA2277810638	GAA	c.205C= (p.Gln69=)
17	g.80104791C>G	CA8814805	GAA	c.205C>G (p.Gln69Glu)	ClinVar dbSNP ExAC gnomAD v4
17	g.80104791C>T	CA8814806	GAA	c.205C>T (p.Gln69Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104792A=	CA2277810639	GAA	c.206A= (p.Gln69=)
17	g.80104792A>C	CA401360454	GAA	c.206A>C (p.Gln69Pro)
17	g.80104792A>G	CA8814807	GAA	c.206A>G (p.Gln69Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104792A>T	CA401360455	GAA	c.206A>T (p.Gln69Leu)
17	g.80104793G>A	CA502177192	GAA	c.207G>A (p.Gln69=)	ClinVar dbSNP
17	g.80104793G>C	CA401360456	GAA	c.207G>C (p.Gln69His)
17	g.80104793G=	CA2277810640	GAA	c.207G= (p.Gln69=)
17	g.80104793G>T	CA401360457	GAA	c.207G>T (p.Gln69His)
17	g.80104794G>A	CA401360458	GAA	c.208G>A (p.Ala70Thr)
17	g.80104794G>C	CA401360459	GAA	c.208G>C (p.Ala70Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104794G=	CA2277810641	GAA	c.208G= (p.Ala70=)
17	g.80104794G>T	CA401360460	GAA	c.208G>T (p.Ala70Ser)
17	g.80104795C>A	CA8814808	GAA	c.209C>A (p.Ala70Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104795C=	CA2277810642	GAA	c.209C= (p.Ala70=)
17	g.80104795C>G	CA401360461	GAA	c.209C>G (p.Ala70Gly)
17	g.80104795C>T	CA401360462	GAA	c.209C>T (p.Ala70Val)
17	g.80104796A>C	CA502402163	GAA	c.210A>C (p.Ala70=)
17	g.80104796A>G	CA502402164	GAA	c.210A>G (p.Ala70=)
17	g.80104796A>T	CA502402165	GAA	c.210A>T (p.Ala70=)
17	g.80104797C>A	CA401360464	GAA	c.211C>A (p.His71Asn)
17	g.80104797C>G	CA401360465	GAA	c.211C>G (p.His71Asp)
17	g.80104797C>T	CA401360463	GAA	c.211C>T (p.His71Tyr)	gnomAD v4
17	g.80104798A=	CA2277810643	GAA	c.212A= (p.His71=)
17	g.80104798A>C	CA401360466	GAA	c.212A>C (p.His71Pro)
17	g.80104798A>G	CA8814809	GAA	c.212A>G (p.His71Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104798A>T	CA401360467	GAA	c.212A>T (p.His71Leu)
17	g.80104799C>A	CA8814810	GAA	c.213C>A (p.His71Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104799C=	CA2277810644	GAA	c.213C= (p.His71=)
17	g.80104799C>G	CA401360468	GAA	c.213C>G (p.His71Gln)
17	g.80104799C>T	CA502402166	GAA	c.213C>T (p.His71=)	ClinVar dbSNP gnomAD v4
17	g.80104800C>A	CA294886764	GAA	c.214C>A (p.Pro72Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104800C=	CA2277810645	GAA	c.214C= (p.Pro72=)
17	g.80104800C>G	CA401360469	GAA	c.214C>G (p.Pro72Ala)
17	g.80104800C>T	CA401360470	GAA	c.214C>T (p.Pro72Ser)	gnomAD v4
17	g.80104801C>A	CA401360471	GAA	c.215C>A (p.Pro72His)
17	g.80104801C>G	CA401360472	GAA	c.215C>G (p.Pro72Arg)
17	g.80104801C>T	CA401360473	GAA	c.215C>T (p.Pro72Leu)
17	g.80104802C>A	CA502402167	GAA	c.216C>A (p.Pro72=)	gnomAD v4
17	g.80104802C=	CA2277810646	GAA	c.216C= (p.Pro72=)
17	g.80104802C>G	CA502402168	GAA	c.216C>G (p.Pro72=)	gnomAD v4
17	g.80104802C>T	CA8814811	GAA	c.216C>T (p.Pro72=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104803G>A	CA8814813	GAA	c.217G>A (p.Gly73Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104803G>C	CA401360474	GAA	c.217G>C (p.Gly73Arg)
17	g.80104803G=	CA2277810647	GAA	c.217G= (p.Gly73=)
17	g.80104803G>T	CA401360475	GAA	c.217G>T (p.Gly73Cys)	ClinVar dbSNP
17	g.80104804dup	CA8814812	GAA	c.218dup (p.Arg74ProfsTer22)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104804G>A	CA401360476	GAA	c.218G>A (p.Gly73Asp)
17	g.80104804G>C	CA401360477	GAA	c.218G>C (p.Gly73Ala)
17	g.80104804G>T	CA401360478	GAA	c.218G>T (p.Gly73Val)
17	g.80104805C>A	CA502402169	GAA	c.219C>A (p.Gly73=)
17	g.80104805C>G	CA502402170	GAA	c.219C>G (p.Gly73=)
17	g.80104805C>T	CA502402171	GAA	c.219C>T (p.Gly73=)	COSMIC

Number of alleles fetched