Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80105727A=	CA2277811204	GAA	c.547-22A= (n.547-22A=)
17	g.80105727A>G	CA627698574	GAA	c.547-22A>G (n.547-22A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105728A=	CA2277811205	GAA	c.547-21A= (n.547-21A=)
17	g.80105728A>G	CA8814924	GAA	c.547-21A>G (n.547-21A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105732del	CA2640277635	GAA	c.547-17del (n.547-17del)	gnomAD v4
17	g.80105733C>A	CA2277811207	GAA	c.547-16C>A (n.547-16C>A)	dbSNP gnomAD v4
17	g.80105733C=	CA2277811206	GAA	c.547-16C= (n.547-16C=)
17	g.80105733C>G	CA2640277641	GAA	c.547-16C>G (n.547-16C>G)	ClinVar gnomAD v4
17	g.80105733C>T	CA2640277642	GAA	c.547-16C>T (n.547-16C>T)	gnomAD v4
17	g.80105737del	CA2640277639	GAA	c.547-12del (n.547-12del)	gnomAD v4
17	g.80105734C>A	CA2277811208	GAA	c.547-15C>A (n.547-15C>A)	dbSNP
17	g.80105734C=	CA2277811209	GAA	c.547-15C= (n.547-15C=)
17	g.80105734C>G	CA2576660836	GAA	c.547-15C>G (n.547-15C>G)
17	g.80105734C>T	CA627698578	GAA	c.547-15C>T (n.547-15C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105735C>A	CA2640277647	GAA	c.547-14C>A (n.547-14C>A)	gnomAD v4
17	g.80105735C=	CA2277811210	GAA	c.547-14C= (n.547-14C=)
17	g.80105735C>G	CA2277811211	GAA	c.547-14C>G (n.547-14C>G)	dbSNP
17	g.80105736C>A	CA627698580	GAA	c.547-13C>A (n.547-13C>A)	dbSNP gnomAD v2 gnomAD v4
17	g.80105736C=	CA2277811212	GAA	c.547-13C= (n.547-13C=)
17	g.80105736C>T	CA2640277651	GAA	c.547-13C>T (n.547-13C>T)	gnomAD v4
17	g.80105737C=	CA2277811213	GAA	c.547-12C= (n.547-12C=)
17	g.80105737C>T	CA8814925	GAA	c.547-12C>T (n.547-12C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105738A>G	CA2576660837	GAA	c.547-11A>G (n.547-11A>G)	dbSNP gnomAD v4
17	g.80105739T>C	CA2640277652	GAA	c.547-10T>C (n.547-10T>C)	gnomAD v4
17	g.80105740C=	CA2277811214	GAA	c.547-9C= (n.547-9C=)
17	g.80105740C>G	CA8814926	GAA	c.547-9C>G (n.547-9C>G)	dbSNP ExAC gnomAD v2
17	g.80105740C>T	CA2573154932	GAA	c.547-9C>T (n.547-9C>T)	ClinVar dbSNP gnomAD v4
17	g.80105744T>G	CA2576660838	GAA	c.547-5T>G (n.547-5T>G)	gnomAD v4
17	g.80105744_80105745delinsGG	CA2580095297	GAA	c.547-5_547-4delinsGG (n.547-5_547-4delinsGG)	ClinVar
17	g.80105745C>A	CA2277811216	GAA	c.547-4C>A (n.547-4C>A)	ClinVar dbSNP gnomAD v4
17	g.80105745C=	CA2277811215	GAA	c.547-4C= (n.547-4C=)
17	g.80105745C>G	CA145784	GAA	c.547-4C>G (n.547-4C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105745C>T	CA2581285006	GAA	c.547-4C>T (n.547-4C>T)	gnomAD v4
17	g.80105746T>C	CA2640277671	GAA	c.547-3T>C (n.547-3T>C)	gnomAD v4
17	g.80105747A>C	CA401362005	GAA	c.547-2A>C (n.547-2A>C)
17	g.80105747A>G	CA401362009	GAA	c.547-2A>G (n.547-2A>G)
17	g.80105747A>T	CA401362007	GAA	c.547-2A>T (n.547-2A>T)
17	g.80105748G>A	CA401362011	GAA	c.547-1G>A (n.547-1G>A)
17	g.80105748G>C	CA401362012	GAA	c.547-1G>C (n.547-1G>C)	ClinVar dbSNP
17	g.80105748G>T	CA401362014	GAA	c.547-1G>T (n.547-1G>T)
17	g.80105749A=	CA2277811217	GAA	c.547A= (p.Ile183=)
17	g.80105749A>C	CA401362017	GAA	c.547A>C (p.Ile183Leu)
17	g.80105749A>G	CA401362018	GAA	c.547A>G (p.Ile183Val)	ClinVar dbSNP gnomAD v4
17	g.80105749A>T	CA401362019	GAA	c.547A>T (p.Ile183Phe)
17	g.80105750T>A	CA401362021	GAA	c.548T>A (p.Ile183Asn)	gnomAD v4
17	g.80105750T>C	CA401362024	GAA	c.548T>C (p.Ile183Thr)
17	g.80105750T>G	CA401362026	GAA	c.548T>G (p.Ile183Ser)
17	g.80105751C>A	CA502177450	GAA	c.549C>A (p.Ile183=)	gnomAD v4
17	g.80105751C=	CA2277811218	GAA	c.549C= (p.Ile183=)
17	g.80105751C>G	CA8814927	GAA	c.549C>G (p.Ile183Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105751C>T	CA502177453	GAA	c.549C>T (p.Ile183=)
17	g.80105752A>C	CA401362029	GAA	c.550A>C (p.Lys184Gln)
17	g.80105752A>G	CA401362031	GAA	c.550A>G (p.Lys184Glu)	gnomAD v4
17	g.80105752A>T	CA401362032	GAA	c.550A>T (p.Lys184Ter)
17	g.80105754del	CA2640277679	GAA	c.552del (p.Asp185IlefsTer?)	gnomAD v4
17	g.80105753A=	CA2277811219	GAA	c.551A= (p.Lys184=)
17	g.80105753A>C	CA401362034	GAA	c.551A>C (p.Lys184Thr)
17	g.80105753A>G	CA401362038	GAA	c.551A>G (p.Lys184Arg)	dbSNP gnomAD v4
17	g.80105753A>T	CA401362036	GAA	c.551A>T (p.Lys184Ile)
17	g.80105754A>C	CA401362040	GAA	c.552A>C (p.Lys184Asn)
17	g.80105754A>G	CA502177456	GAA	c.552A>G (p.Lys184=)	ClinVar gnomAD v4
17	g.80105754A>T	CA401362042	GAA	c.552A>T (p.Lys184Asn)
17	g.80105755G>A	CA401362045	GAA	c.553G>A (p.Asp185Asn)	gnomAD v4
17	g.80105755G>C	CA401362047	GAA	c.553G>C (p.Asp185His)
17	g.80105755G>T	CA401362049	GAA	c.553G>T (p.Asp185Tyr)
17	g.80105756A>C	CA401362055	GAA	c.554A>C (p.Asp185Ala)
17	g.80105756A>G	CA401362056	GAA	c.554A>G (p.Asp185Gly)
17	g.80105756A>T	CA401362059	GAA	c.554A>T (p.Asp185Val)
17	g.80105757T>A	CA401362061	GAA	c.555T>A (p.Asp185Glu)
17	g.80105757T>C	CA502177460	GAA	c.555T>C (p.Asp185=)
17	g.80105757T>G	CA401362062	GAA	c.555T>G (p.Asp185Glu)
17	g.80105758C>A	CA401362066	GAA	c.556C>A (p.Pro186Thr)
17	g.80105758C>G	CA401362069	GAA	c.556C>G (p.Pro186Ala)
17	g.80105758C>T	CA401362065	GAA	c.556C>T (p.Pro186Ser)	ClinVar
17	g.80105759C>A	CA401362072	GAA	c.557C>A (p.Pro186Gln)	ClinVar
17	g.80105759C>G	CA401362071	GAA	c.557C>G (p.Pro186Arg)
17	g.80105759C>T	CA401362074	GAA	c.557C>T (p.Pro186Leu)	gnomAD v4
17	g.80105760A=	CA2277811220	GAA	c.558A= (p.Pro186=)
17	g.80105760A>C	CA502177465	GAA	c.558A>C (p.Pro186=)
17	g.80105760A>G	CA502177468	GAA	c.558A>G (p.Pro186=)	dbSNP gnomAD v3 gnomAD v4
17	g.80105760A>T	CA502177466	GAA	c.558A>T (p.Pro186=)
17	g.80105761G>A	CA401362076	GAA	c.559G>A (p.Ala187Thr)
17	g.80105761G>C	CA401362078	GAA	c.559G>C (p.Ala187Pro)
17	g.80105761G>T	CA401362080	GAA	c.559G>T (p.Ala187Ser)	gnomAD v4 COSMIC
17	g.80105762C>A	CA401362082	GAA	c.560C>A (p.Ala187Asp)
17	g.80105762C=	CA2277811221	GAA	c.560C= (p.Ala187=)
17	g.80105762C>G	CA8814928	GAA	c.560C>G (p.Ala187Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105762C>T	CA401362084	GAA	c.560C>T (p.Ala187Val)
17	g.80105763T>A	CA502177472	GAA	c.561T>A (p.Ala187=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80105763T>C	CA502177474	GAA	c.561T>C (p.Ala187=)
17	g.80105763T>G	CA502177476	GAA	c.561T>G (p.Ala187=)
17	g.80105763T=	CA2277811222	GAA	c.561T= (p.Ala187=)
17	g.80105764A=	CA2277811223	GAA	c.562A= (p.Asn188=)
17	g.80105764A>C	CA401362086	GAA	c.562A>C (p.Asn188His)
17	g.80105764A>G	CA294888081	GAA	c.562A>G (p.Asn188Asp)	dbSNP gnomAD v4
17	g.80105764A>T	CA401362088	GAA	c.562A>T (p.Asn188Tyr)
17	g.80105765A>C	CA401362090	GAA	c.563A>C (p.Asn188Thr)
17	g.80105765A>G	CA401362092	GAA	c.563A>G (p.Asn188Ser)	COSMIC
17	g.80105765A>T	CA401362094	GAA	c.563A>T (p.Asn188Ile)
17	g.80105766C>A	CA401362095	GAA	c.564C>A (p.Asn188Lys)
17	g.80105766C=	CA2277811224	GAA	c.564C= (p.Asn188=)
17	g.80105766C>G	CA401362097	GAA	c.564C>G (p.Asn188Lys)	dbSNP gnomAD v3 gnomAD v4
17	g.80105766C>T	CA502177484	GAA	c.564C>T (p.Asn188=)	ClinVar dbSNP gnomAD v4
17	g.80105767A>C	CA502177485	GAA	c.565A>C (p.Arg189=)
17	g.80105767A>G	CA401362099	GAA	c.565A>G (p.Arg189Gly)
17	g.80105767A>T	CA401362100	GAA	c.565A>T (p.Arg189Trp)
17	g.80105768G>A	CA401362102	GAA	c.566G>A (p.Arg189Lys)	ClinVar dbSNP
17	g.80105768G>C	CA401362104	GAA	c.566G>C (p.Arg189Thr)
17	g.80105768G=	CA2277811225	GAA	c.566G= (p.Arg189=)
17	g.80105768G>T	CA401362106	GAA	c.566G>T (p.Arg189Met)	gnomAD v4
17	g.80105769G>A	CA502177491	GAA	c.567G>A (p.Arg189=)	ClinVar gnomAD v4
17	g.80105769G>C	CA401362108	GAA	c.567G>C (p.Arg189Ser)
17	g.80105769G>T	CA401362111	GAA	c.567G>T (p.Arg189Ser)	gnomAD v4
17	g.80105770C>A	CA401362112	GAA	c.568C>A (p.Arg190Ser)
17	g.80105770C=	CA2277811226	GAA	c.568C= (p.Arg190=)
17	g.80105770C>G	CA401362114	GAA	c.568C>G (p.Arg190Gly)
17	g.80105770C>T	CA8814929	GAA	c.568C>T (p.Arg190Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80105771G>A	CA273988	GAA	c.569G>A (p.Arg190His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105771G>C	CA401362118	GAA	c.569G>C (p.Arg190Pro)
17	g.80105771G=	CA2277811227	GAA	c.569G= (p.Arg190=)
17	g.80105771G>T	CA8814930	GAA	c.569G>T (p.Arg190Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105772C>A	CA502177495	GAA	c.570C>A (p.Arg190=)
17	g.80105772C>G	CA502177497	GAA	c.570C>G (p.Arg190=)
17	g.80105772C>T	CA502177498	GAA	c.570C>T (p.Arg190=)	gnomAD v4
17	g.80105773T>A	CA8814931	GAA	c.571T>A (p.Tyr191Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105773T>C	CA294888098	GAA	c.571T>C (p.Tyr191His)	dbSNP gnomAD v4
17	g.80105773T>G	CA401362120	GAA	c.571T>G (p.Tyr191Asp)	ClinVar dbSNP
17	g.80105773T=	CA2277811228	GAA	c.571T= (p.Tyr191=)
17	g.80105774A=	CA2277811229	GAA	c.572A= (p.Tyr191=)
17	g.80105774A>C	CA401362122	GAA	c.572A>C (p.Tyr191Ser)
17	g.80105774A>G	CA401362123	GAA	c.572A>G (p.Tyr191Cys)	ClinVar dbSNP
17	g.80105774A>T	CA401362125	GAA	c.572A>T (p.Tyr191Phe)
17	g.80105775C>A	CA16041885	GAA	c.573C>A (p.Tyr191Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105775C=	CA2277811230	GAA	c.573C= (p.Tyr191=)
17	g.80105775C>G	CA401362126	GAA	c.573C>G (p.Tyr191Ter)
17	g.80105775C>T	CA8814932	GAA	c.573C>T (p.Tyr191=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105776G>A	CA401362134	GAA	c.574G>A (p.Glu192Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105776G>C	CA401362130	GAA	c.574G>C (p.Glu192Gln)
17	g.80105776G=	CA2277811231	GAA	c.574G= (p.Glu192=)
17	g.80105776G>T	CA401362132	GAA	c.574G>T (p.Glu192Ter)	COSMIC
17	g.80105777A>C	CA401362136	GAA	c.575A>C (p.Glu192Ala)
17	g.80105777A>G	CA401362137	GAA	c.575A>G (p.Glu192Gly)
17	g.80105777A>T	CA401362139	GAA	c.575A>T (p.Glu192Val)
17	g.80105778G>A	CA502177509	GAA	c.576G>A (p.Glu192=)
17	g.80105778G>C	CA8814933	GAA	c.576G>C (p.Glu192Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105778G=	CA2277811232	GAA	c.576G= (p.Glu192=)
17	g.80105778G>T	CA401362143	GAA	c.576G>T (p.Glu192Asp)	gnomAD v4
17	g.80105779G>A	CA401362145	GAA	c.577G>A (p.Val193Met)
17	g.80105779G>C	CA401362148	GAA	c.577G>C (p.Val193Leu)
17	g.80105779G>T	CA401362147	GAA	c.577G>T (p.Val193Leu)	gnomAD v4
17	g.80105780T>A	CA401362150	GAA	c.578T>A (p.Val193Glu)
17	g.80105780T>C	CA401362152	GAA	c.578T>C (p.Val193Ala)
17	g.80105780T>G	CA401362154	GAA	c.578T>G (p.Val193Gly)
17	g.80105781G>A	CA502177515	GAA	c.579G>A (p.Val193=)	ClinVar dbSNP
17	g.80105781G>C	CA8814934	GAA	c.579G>C (p.Val193=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105781G=	CA2277811233	GAA	c.579G= (p.Val193=)
17	g.80105781G>T	CA502177517	GAA	c.579G>T (p.Val193=)	gnomAD v4
17	g.80105781dup	CA2576660839	GAA	c.579dup (p.Pro194AlafsTer?)
17	g.80105782C>A	CA401362156	GAA	c.580C>A (p.Pro194Thr)
17	g.80105782C>G	CA401362158	GAA	c.580C>G (p.Pro194Ala)
17	g.80105782C>T	CA401362160	GAA	c.580C>T (p.Pro194Ser)	gnomAD v4
17	g.80105783C>A	CA401362161	GAA	c.581C>A (p.Pro194His)	gnomAD v4
17	g.80105783C=	CA2277811234	GAA	c.581C= (p.Pro194=)
17	g.80105783C>G	CA401362163	GAA	c.581C>G (p.Pro194Arg)
17	g.80105783C>T	CA401362165	GAA	c.581C>T (p.Pro194Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.80105784C>A	CA502177523	GAA	c.582C>A (p.Pro194=)
17	g.80105784C=	CA2277811235	GAA	c.582C= (p.Pro194=)
17	g.80105784C>G	CA8814935	GAA	c.582C>G (p.Pro194=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105784C>T	CA502177525	GAA	c.582C>T (p.Pro194=)
17	g.80105785T>A	CA401362168	GAA	c.583T>A (p.Leu195Met)
17	g.80105785T>C	CA502177528	GAA	c.583T>C (p.Leu195=)	ClinVar dbSNP
17	g.80105785T>G	CA401362170	GAA	c.583T>G (p.Leu195Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105785T=	CA2277811236	GAA	c.583T= (p.Leu195=)
17	g.80105786T>A	CA401362172	GAA	c.584T>A (p.Leu195Ter)	ClinVar
17	g.80105786T>C	CA401362176	GAA	c.584T>C (p.Leu195Ser)	gnomAD v4
17	g.80105786T>G	CA401362173	GAA	c.584T>G (p.Leu195Trp)
17	g.80105787G>A	CA502177532	GAA	c.585G>A (p.Leu195=)
17	g.80105787G>C	CA401362178	GAA	c.585G>C (p.Leu195Phe)
17	g.80105787G>T	CA401362180	GAA	c.585G>T (p.Leu195Phe)
17	g.80105788G>A	CA401362183	GAA	c.586G>A (p.Glu196Lys)
17	g.80105788G>C	CA401362184	GAA	c.586G>C (p.Glu196Gln)	dbSNP gnomAD v2 gnomAD v4
17	g.80105788G=	CA2277811237	GAA	c.586G= (p.Glu196=)
17	g.80105788G>T	CA401362187	GAA	c.586G>T (p.Glu196Ter)	gnomAD v4
17	g.80105789del	CA2580095298	GAA	c.587del (p.Glu196GlyfsTer25) c.587del (p.Glu196GlyfsTer?)	ClinVar
17	g.80105789A>C	CA401362189	GAA	c.587A>C (p.Glu196Ala)
17	g.80105789A>G	CA401362191	GAA	c.587A>G (p.Glu196Gly)
17	g.80105789A>T	CA401362192	GAA	c.587A>T (p.Glu196Val)
17	g.80105790G>A	CA502177537	GAA	c.588G>A (p.Glu196=)
17	g.80105790G>C	CA401362194	GAA	c.588G>C (p.Glu196Asp)
17	g.80105790G>T	CA401362196	GAA	c.588G>T (p.Glu196Asp)
17	g.80105791A>C	CA401362201	GAA	c.589A>C (p.Thr197Pro)
17	g.80105791A>G	CA401362200	GAA	c.589A>G (p.Thr197Ala)
17	g.80105791A>T	CA401362198	GAA	c.589A>T (p.Thr197Ser)
17	g.80105792C>A	CA8814936	GAA	c.590C>A (p.Thr197Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105792C=	CA2277811238	GAA	c.590C= (p.Thr197=)
17	g.80105792C>G	CA401362205	GAA	c.590C>G (p.Thr197Ser)
17	g.80105792C>T	CA401362206	GAA	c.590C>T (p.Thr197Ile)	ClinVar dbSNP
17	g.80105795del	CA2640277686	GAA	c.593del (p.Pro198ArgfsTer23) c.593del (p.Pro198ArgfsTer?)	gnomAD v4
17	g.80105793C>A	CA502177543	GAA	c.591C>A (p.Thr197=)
17	g.80105793C>G	CA502177545	GAA	c.591C>G (p.Thr197=)
17	g.80105793C>T	CA502177547	GAA	c.591C>T (p.Thr197=)	gnomAD v4
17	g.80105794C>A	CA294888175	GAA	c.592C>A (p.Pro198Thr)	dbSNP
17	g.80105794C=	CA2277811239	GAA	c.592C= (p.Pro198=)
17	g.80105794C>G	CA401362209	GAA	c.592C>G (p.Pro198Ala)	gnomAD v4
17	g.80105794C>T	CA401362210	GAA	c.592C>T (p.Pro198Ser)
17	g.80105795C>A	CA401362212	GAA	c.593C>A (p.Pro198Gln)	ClinVar dbSNP
17	g.80105795C=	CA2277811240	GAA	c.593C= (p.Pro198=)
17	g.80105795C>G	CA401362214	GAA	c.593C>G (p.Pro198Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.80105795C>T	CA8814937	GAA	c.593C>T (p.Pro198Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105796G>A	CA502177552	GAA	c.594G>A (p.Pro198=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105796G>C	CA502177553	GAA	c.594G>C (p.Pro198=)	ClinVar dbSNP gnomAD v4
17	g.80105796G=	CA2277811241	GAA	c.594G= (p.Pro198=)
17	g.80105796G>T	CA502177555	GAA	c.594G>T (p.Pro198=)	ClinVar dbSNP gnomAD v4
17	g.80105797C>A	CA401362217	GAA	c.595C>A (p.His199Asn)
17	g.80105797C>G	CA401362219	GAA	c.595C>G (p.His199Asp)
17	g.80105797C>T	CA401362222	GAA	c.595C>T (p.His199Tyr)	gnomAD v4 COSMIC
17	g.80105797_80105798delinsTG	CA2580095300	GAA	c.595_596delinsTG (p.His199Cys)	ClinVar
17	g.80105798A=	CA2277811242	GAA	c.596A= (p.His199=)
17	g.80105798A>C	CA401362227	GAA	c.596A>C (p.His199Pro)
17	g.80105798A>G	CA145785	GAA	c.596A>G (p.His199Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105798A>T	CA401362225	GAA	c.596A>T (p.His199Leu)	ClinVar gnomAD v4
17	g.80105798_80105802delinsGTGT	CA2580095301	GAA	c.596_600delinsGTGT (p.His199ArgfsTer22) c.596_600delinsGTGT (p.His199ArgfsTer?)	ClinVar
17	g.80105799T>A	CA401362231	GAA	c.597T>A (p.His199Gln)
17	g.80105799T>C	CA502177561	GAA	c.597T>C (p.His199=)
17	g.80105799T>G	CA401362232	GAA	c.597T>G (p.His199Gln)
17	g.80105800G>A	CA401362233	GAA	c.598G>A (p.Val200Ile)
17	g.80105800G>C	CA401362234	GAA	c.598G>C (p.Val200Leu)
17	g.80105800G=	CA2277811243	GAA	c.598G= (p.Val200=)
17	g.80105800G>T	CA401362236	GAA	c.598G>T (p.Val200Phe)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105801T>A	CA8814938	GAA	c.599T>A (p.Val200Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105801T>C	CA401362241	GAA	c.599T>C (p.Val200Ala)
17	g.80105801T>G	CA401362243	GAA	c.599T>G (p.Val200Gly)
17	g.80105801T=	CA2277811244	GAA	c.599T= (p.Val200=)
17	g.80105802C>A	CA502177568	GAA	c.600C>A (p.Val200=)
17	g.80105802C=	CA2277811245	GAA	c.600C= (p.Val200=)
17	g.80105802C>G	CA502177570	GAA	c.600C>G (p.Val200=)
17	g.80105802C>T	CA8814939	GAA	c.600C>T (p.Val200=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105803C>A	CA401362247	GAA	c.601C>A (p.His201Asn)
17	g.80105803C=	CA2277811246	GAA	c.601C= (p.His201=)
17	g.80105803C>G	CA401362249	GAA	c.601C>G (p.His201Asp)
17	g.80105803C>T	CA401362251	GAA	c.601C>T (p.His201Tyr)	dbSNP gnomAD v2 gnomAD v4
17	g.80105804A>C	CA401362254	GAA	c.602A>C (p.His201Pro)
17	g.80105804A>G	CA401362256	GAA	c.602A>G (p.His201Arg)	gnomAD v4
17	g.80105804A>T	CA401362253	GAA	c.602A>T (p.His201Leu)
17	g.80105805C>A	CA401362257	GAA	c.603C>A (p.His201Gln)
17	g.80105805C=	CA2277811247	GAA	c.603C= (p.His201=)
17	g.80105805C>G	CA401362259	GAA	c.603C>G (p.His201Gln)
17	g.80105805C>T	CA502177577	GAA	c.603C>T (p.His201=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105806A>C	CA401362260	GAA	c.604A>C (p.Ser202Arg)
17	g.80105806A>G	CA401362262	GAA	c.604A>G (p.Ser202Gly)
17	g.80105806A>T	CA401362264	GAA	c.604A>T (p.Ser202Cys)
17	g.80105807G>A	CA401362270	GAA	c.605G>A (p.Ser202Asn)	gnomAD v4
17	g.80105807G>C	CA401362269	GAA	c.605G>C (p.Ser202Thr)
17	g.80105807G>T	CA401362267	GAA	c.605G>T (p.Ser202Ile)	gnomAD v4
17	g.80105808C>A	CA401362271	GAA	c.606C>A (p.Ser202Arg)
17	g.80105808C=	CA2277811248	GAA	c.606C= (p.Ser202=)
17	g.80105808C>G	CA401362273	GAA	c.606C>G (p.Ser202Arg)
17	g.80105808C>T	CA502177582	GAA	c.606C>T (p.Ser202=)	dbSNP gnomAD v4
17	g.80105809C>A	CA502177584	GAA	c.607C>A (p.Arg203=)	gnomAD v4
17	g.80105809C=	CA2277811249	GAA	c.607C= (p.Arg203=)
17	g.80105809C>G	CA401362275	GAA	c.607C>G (p.Arg203Gly)
17	g.80105809C>T	CA8814940	GAA	c.607C>T (p.Arg203Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105810G>A	CA8814941	GAA	c.608G>A (p.Arg203Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105810G>C	CA401362278	GAA	c.608G>C (p.Arg203Pro)	dbSNP gnomAD v4
17	g.80105810G=	CA2277811250	GAA	c.608G= (p.Arg203=)
17	g.80105810G>T	CA401362279	GAA	c.608G>T (p.Arg203Leu)	gnomAD v4
17	g.80105811G>A	CA502177589	GAA	c.609G>A (p.Arg203=)	ClinVar dbSNP gnomAD v4
17	g.80105811G>C	CA502177591	GAA	c.609G>C (p.Arg203=)
17	g.80105811G=	CA2277811251	GAA	c.609G= (p.Arg203=)
17	g.80105811G>T	CA502177592	GAA	c.609G>T (p.Arg203=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105812G>A	CA8814942	GAA	c.610G>A (p.Ala204Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105812G>C	CA401362283	GAA	c.610G>C (p.Ala204Pro)
17	g.80105812G=	CA2277811252	GAA	c.610G= (p.Ala204=)
17	g.80105812G>T	CA401362280	GAA	c.610G>T (p.Ala204Ser)	gnomAD v4
17	g.80105813C>A	CA401362287	GAA	c.611C>A (p.Ala204Glu)	gnomAD v4
17	g.80105813C>G	CA401362285	GAA	c.611C>G (p.Ala204Gly)
17	g.80105813C>T	CA401362289	GAA	c.611C>T (p.Ala204Val)	ClinVar gnomAD v4
17	g.80105814A>C	CA502177598	GAA	c.612A>C (p.Ala204=)
17	g.80105814A>G	CA502177600	GAA	c.612A>G (p.Ala204=)	ClinVar
17	g.80105814A>T	CA502177601	GAA	c.612A>T (p.Ala204=)
17	g.80105815C>A	CA401362292	GAA	c.613C>A (p.Pro205Thr)
17	g.80105815C=	CA2277811253	GAA	c.613C= (p.Pro205=)
17	g.80105815C>G	CA401362293	GAA	c.613C>G (p.Pro205Ala)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105815C>T	CA401362294	GAA	c.613C>T (p.Pro205Ser)	ClinVar gnomAD v4
17	g.80105816C>A	CA401362296	GAA	c.614C>A (p.Pro205Gln)	gnomAD v4
17	g.80105816C=	CA2277811254	GAA	c.614C= (p.Pro205=)
17	g.80105816C>G	CA401362297	GAA	c.614C>G (p.Pro205Arg)
17	g.80105816C>T	CA8814943	GAA	c.614C>T (p.Pro205Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105817G>A	CA243111	GAA	c.615G>A (p.Pro205=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105817G>C	CA502177607	GAA	c.615G>C (p.Pro205=)
17	g.80105817G=	CA2277811255	GAA	c.615G= (p.Pro205=)
17	g.80105817G>T	CA502177608	GAA	c.615G>T (p.Pro205=)
17	g.80105818T>A	CA401362302	GAA	c.616T>A (p.Ser206Thr)
17	g.80105818T>C	CA401362303	GAA	c.616T>C (p.Ser206Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105818T>G	CA401362305	GAA	c.616T>G (p.Ser206Ala)
17	g.80105818T=	CA2277811256	GAA	c.616T= (p.Ser206=)
17	g.80105819C>A	CA401362306	GAA	c.617C>A (p.Ser206Tyr)	gnomAD v4
17	g.80105819C=	CA2277811257	GAA	c.617C= (p.Ser206=)
17	g.80105819C>G	CA8814944	GAA	c.617C>G (p.Ser206Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105819C>T	CA401362308	GAA	c.617C>T (p.Ser206Phe)
17	g.80105822del	CA2640277882	GAA	c.620del (p.Pro207HisfsTer14) c.620del (p.Pro207HisfsTer?)	gnomAD v4
17	g.80105820C>A	CA502177628	GAA	c.618C>A (p.Ser206=)	ClinVar dbSNP
17	g.80105820C=	CA2277811258	GAA	c.618C= (p.Ser206=)
17	g.80105820C>G	CA502177629	GAA	c.618C>G (p.Ser206=)	ClinVar dbSNP
17	g.80105820C>T	CA8814945	GAA	c.618C>T (p.Ser206=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105821C>A	CA401362351	GAA	c.619C>A (p.Pro207Thr)
17	g.80105821C>G	CA401362352	GAA	c.619C>G (p.Pro207Ala)
17	g.80105821C>T	CA401362353	GAA	c.619C>T (p.Pro207Ser)	ClinVar gnomAD v4
17	g.80105822C>A	CA401362354	GAA	c.620C>A (p.Pro207Gln)
17	g.80105822C>G	CA401362355	GAA	c.620C>G (p.Pro207Arg)
17	g.80105822C>T	CA401362356	GAA	c.620C>T (p.Pro207Leu)
17	g.80105823A=	CA2277811259	GAA	c.621A= (p.Pro207=)
17	g.80105823A>C	CA502177630	GAA	c.621A>C (p.Pro207=)	ClinVar
17	g.80105823A>G	CA8814946	GAA	c.621A>G (p.Pro207=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105823A>T	CA502177631	GAA	c.621A>T (p.Pro207=)
17	g.80105824C>A	CA401362357	GAA	c.622C>A (p.Leu208Ile)
17	g.80105824C>G	CA401362358	GAA	c.622C>G (p.Leu208Val)
17	g.80105824C>T	CA401362359	GAA	c.622C>T (p.Leu208Phe)	gnomAD v4
17	g.80105825T>A	CA401362360	GAA	c.623T>A (p.Leu208His)
17	g.80105825T>C	CA401362361	GAA	c.623T>C (p.Leu208Pro)	ClinVar dbSNP
17	g.80105825T>G	CA401362362	GAA	c.623T>G (p.Leu208Arg)
17	g.80105825T=	CA2277811260	GAA	c.623T= (p.Leu208=)
17	g.80105826C>A	CA502177632	GAA	c.624C>A (p.Leu208=)
17	g.80105826C=	CA2277811261	GAA	c.624C= (p.Leu208=)
17	g.80105826C>G	CA502177633	GAA	c.624C>G (p.Leu208=)	ClinVar dbSNP gnomAD v4
17	g.80105826C>T	CA502177634	GAA	c.624C>T (p.Leu208=)
17	g.80105827T>A	CA401362364	GAA	c.625T>A (p.Tyr209Asn) c.625T>A
17	g.80105827T>C	CA294888258	GAA	c.625T>C (p.Tyr209His) c.625T>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105827T>G	CA401362363	GAA	c.625T>G (p.Tyr209Asp) c.625T>G
17	g.80105827T=	CA2277811262	GAA	c.625T= (p.Tyr209=) c.625T=
17	g.80105827dup	CA8814947	GAA	c.625dup (p.Tyr209LeufsTer?) c.625dup	dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched