Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80108534G>A	CA401364995	GAA	c.1121G>A (p.Cys374Tyr)	dbSNP
17	g.80108534G>C	CA401364996	GAA	c.1121G>C (p.Cys374Ser)
17	g.80108534G=	CA2277812807	GAA	c.1121G= (p.Cys374=)
17	g.80108534G>T	CA401364997	GAA	c.1121G>T (p.Cys374Phe)
17	g.80108535C>A	CA401364998	GAA	c.1122C>A (p.Cys374Ter)
17	g.80108535C=	CA2277812808	GAA	c.1122C= (p.Cys374=)
17	g.80108535C>G	CA401364999	GAA	c.1122C>G (p.Cys374Trp)
17	g.80108535C>T	CA502402395	GAA	c.1122C>T (p.Cys374=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108536C>A	CA401365001	GAA	c.1123C>A (p.Arg375Ser)	ClinVar gnomAD v4
17	g.80108536C=	CA2277812809	GAA	c.1123C= (p.Arg375=)
17	g.80108536C>G	CA401365000	GAA	c.1123C>G (p.Arg375Gly)
17	g.80108536C>T	CA8815176	GAA	c.1123C>T (p.Arg375Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108537G>A	CA8815177	GAA	c.1124G>A (p.Arg375His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108537G>C	CA401365002	GAA	c.1124G>C (p.Arg375Pro)	gnomAD v4
17	g.80108537G=	CA2277812810	GAA	c.1124G= (p.Arg375=)
17	g.80108537G>T	CA8815178	GAA	c.1124G>T (p.Arg375Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108538C>A	CA502402396	GAA	c.1125C>A (p.Arg375=)
17	g.80108538C>G	CA502402397	GAA	c.1125C>G (p.Arg375=)
17	g.80108538C>T	CA502402398	GAA	c.1125C>T (p.Arg375=)
17	g.80108539T>A	CA401365003	GAA	c.1126T>A (p.Trp376Arg)
17	g.80108539T>C	CA401365004	GAA	c.1126T>C (p.Trp376Arg)
17	g.80108539T>G	CA401365005	GAA	c.1126T>G (p.Trp376Gly)
17	g.80108539_80108540delinsTG	CA2277812811	GAA	c.1126_1127delinsTG (p.Trp376=)
17	g.80108540G>A	CA401365006	GAA	c.1127G>A (p.Trp376Ter)
17	g.80108540G>C	CA401365008	GAA	c.1127G>C (p.Trp376Ser)
17	g.80108540G>T	CA401365007	GAA	c.1127G>T (p.Trp376Leu)
17	g.80108540_80108542delinsGGG	CA2277812812	GAA	c.1127_1129delinsGGG (p.Trp376=)
17	g.80108540_80108543del	CA2695227077	GAA	c.1127_1130del (p.Trp376SerfsTer15)
17	g.80108543del	CA8815179	GAA	c.1130del (p.Gly377AlafsTer15)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108540_80108541insC	CA1139532165	GAA	c.1127_1128insC (p.Trp376CysfsTer?)
17	g.80108541G>A	CA401365009	GAA	c.1128G>A (p.Trp376Ter)
17	g.80108541G>C	CA401365010	GAA	c.1128G>C (p.Trp376Cys)
17	g.80108541G>T	CA401365011	GAA	c.1128G>T (p.Trp376Cys)
17	g.80108541_80108542delinsC	CA274311	GAA	c.1128_1129delinsC (p.Trp376CysfsTer16)	ClinVar dbSNP
17	g.80108542G>A	CA401365012	GAA	c.1129G>A (p.Gly377Ser)	ClinVar dbSNP gnomAD v4
17	g.80108542G>C	CA8815180	GAA	c.1129G>C (p.Gly377Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108542G=	CA2277812813	GAA	c.1129G= (p.Gly377=)
17	g.80108542G>T	CA401365013	GAA	c.1129G>T (p.Gly377Cys)	ClinVar dbSNP gnomAD v2
17	g.80108542_80108543delinsC	CA2573054601	GAA	c.1129_1130delinsC (p.Gly377ProfsTer15)	dbSNP
17	g.80108543G>A	CA401365014	GAA	c.1130G>A (p.Gly377Asp)
17	g.80108543G>C	CA401365015	GAA	c.1130G>C (p.Gly377Ala)
17	g.80108543G>T	CA401365016	GAA	c.1130G>T (p.Gly377Val)
17	g.80108544C>A	CA502402399	GAA	c.1131C>A (p.Gly377=)
17	g.80108544C>G	CA502402400	GAA	c.1131C>G (p.Gly377=)
17	g.80108544C>T	CA502402401	GAA	c.1131C>T (p.Gly377=)
17	g.80108545del	CA2640286093	GAA	c.1132del (p.Tyr378ThrfsTer14)	gnomAD v4
17	g.80108545T>A	CA401365019	GAA	c.1132T>A (p.Tyr378Asn)	ClinVar
17	g.80108545T>C	CA401365018	GAA	c.1132T>C (p.Tyr378His)	gnomAD v4
17	g.80108545T>G	CA401365017	GAA	c.1132T>G (p.Tyr378Asp)	gnomAD v4
17	g.80108545_80108549delinsGGCTA	CA915952250	GAA	c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr)	ClinVar dbSNP
17	g.80108545_80108549delinsTACTC	CA2277812814	GAA	c.1132_1136delinsTACTC (p.Tyr378=)
17	g.80108546A=	CA2277812815	GAA	c.1133A= (p.Tyr378=)
17	g.80108546A>C	CA401365020	GAA	c.1133A>C (p.Tyr378Ser)
17	g.80108546A>G	CA294892229	GAA	c.1133A>G (p.Tyr378Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108546A>T	CA401365021	GAA	c.1133A>T (p.Tyr378Phe)
17	g.80108547C>A	CA401365022	GAA	c.1134C>A (p.Tyr378Ter)	ClinVar dbSNP
17	g.80108547C=	CA2277812816	GAA	c.1134C= (p.Tyr378=)
17	g.80108547C>G	CA401365023	GAA	c.1134C>G (p.Tyr378Ter)	ClinVar dbSNP
17	g.80108547C>T	CA502402402	GAA	c.1134C>T (p.Tyr378=)	ClinVar dbSNP gnomAD v4
17	g.80108551_80108553del	CA2580612671	GAA	c.1138_1140del (p.Ser380del)	ClinVar
17	g.80108548T>A	CA401365024	GAA	c.1135T>A (p.Ser379Thr)
17	g.80108548T>C	CA401365025	GAA	c.1135T>C (p.Ser379Pro)
17	g.80108548T>G	CA401365026	GAA	c.1135T>G (p.Ser379Ala)	gnomAD v4
17	g.80108549C>A	CA294892232	GAA	c.1136C>A (p.Ser379Tyr)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108549C=	CA2277812817	GAA	c.1136C= (p.Ser379=)
17	g.80108549C>G	CA401365027	GAA	c.1136C>G (p.Ser379Cys)
17	g.80108549C>T	CA294892234	GAA	c.1136C>T (p.Ser379Phe)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108550C>A	CA502402403	GAA	c.1137C>A (p.Ser379=)
17	g.80108550C=	CA2277812818	GAA	c.1137C= (p.Ser379=)
17	g.80108550C>G	CA502402405	GAA	c.1137C>G (p.Ser379=)	ClinVar dbSNP
17	g.80108550C>T	CA502402404	GAA	c.1137C>T (p.Ser379=)	dbSNP
17	g.80108551del	CA2810576493	GAA	c.1138del (p.Ser380ProfsTer12)
17	g.80108551T>A	CA401365028	GAA	c.1138T>A (p.Ser380Thr)
17	g.80108551T>C	CA401365029	GAA	c.1138T>C (p.Ser380Pro)
17	g.80108551T>G	CA401365030	GAA	c.1138T>G (p.Ser380Ala)
17	g.80108552C>A	CA401365031	GAA	c.1139C>A (p.Ser380Tyr)
17	g.80108552C=	CA2277812819	GAA	c.1139C= (p.Ser380=)
17	g.80108552C>G	CA401365032	GAA	c.1139C>G (p.Ser380Cys)
17	g.80108552C>T	CA401365033	GAA	c.1139C>T (p.Ser380Phe)	dbSNP
17	g.80108553C>A	CA502402406	GAA	c.1140C>A (p.Ser380=)	ClinVar dbSNP
17	g.80108553C=	CA2277812820	GAA	c.1140C= (p.Ser380=)
17	g.80108553C>G	CA502402407	GAA	c.1140C>G (p.Ser380=)
17	g.80108553C>T	CA502402408	GAA	c.1140C>T (p.Ser380=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108554A>C	CA401365036	GAA	c.1141A>C (p.Thr381Pro)
17	g.80108554A>G	CA401365035	GAA	c.1141A>G (p.Thr381Ala)
17	g.80108554A>T	CA401365034	GAA	c.1141A>T (p.Thr381Ser)
17	g.80108554_80108555delinsAC	CA2277812821	GAA	c.1141_1142delinsAC (p.Thr381=)
17	g.80108555C>A	CA401365037	GAA	c.1142C>A (p.Thr381Asn)
17	g.80108555C>G	CA401365038	GAA	c.1142C>G (p.Thr381Ser)
17	g.80108555C>T	CA401365039	GAA	c.1142C>T (p.Thr381Ile)
17	g.80108556del	CA8815181	GAA	c.1143del (p.Ala382LeufsTer10)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108556C>A	CA502402409	GAA	c.1143C>A (p.Thr381=)
17	g.80108556C=	CA2277812822	GAA	c.1143C= (p.Thr381=)
17	g.80108556C>G	CA294892260	GAA	c.1143C>G (p.Thr381=)	dbSNP
17	g.80108556C>T	CA8815182	GAA	c.1143C>T (p.Thr381=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108556_80108557insTAG	CA2640286107	GAA	c.1143_1144insTAG	gnomAD v4
17	g.80108557G>A	CA401365040	GAA	c.1144G>A (p.Ala382Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108557G>C	CA401365041	GAA	c.1144G>C (p.Ala382Pro)
17	g.80108557G=	CA2277812823	GAA	c.1144G= (p.Ala382=)
17	g.80108557G>T	CA401365042	GAA	c.1144G>T (p.Ala382Ser)	gnomAD v4 COSMIC
17	g.80108558C>A	CA401365043	GAA	c.1145C>A (p.Ala382Asp)
17	g.80108558C=	CA2277812824	GAA	c.1145C= (p.Ala382=)
17	g.80108558C>G	CA401365044	GAA	c.1145C>G (p.Ala382Gly)	dbSNP
17	g.80108558C>T	CA401365045	GAA	c.1145C>T (p.Ala382Val)
17	g.80108559T>A	CA502402411	GAA	c.1146T>A (p.Ala382=)
17	g.80108559T>C	CA502402412	GAA	c.1146T>C (p.Ala382=)
17	g.80108559T>G	CA502402410	GAA	c.1146T>G (p.Ala382=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80108559T=	CA2277812825	GAA	c.1146T= (p.Ala382=)
17	g.80108560A=	CA2277812826	GAA	c.1147A= (p.Ile383=)
17	g.80108560A>C	CA401365047	GAA	c.1147A>C (p.Ile383Leu)
17	g.80108560A>G	CA247028	GAA	c.1147A>G (p.Ile383Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108560A>T	CA401365046	GAA	c.1147A>T (p.Ile383Phe)
17	g.80108561T>A	CA401365048	GAA	c.1148T>A (p.Ile383Asn)
17	g.80108561T>C	CA401365049	GAA	c.1148T>C (p.Ile383Thr)	gnomAD v4
17	g.80108561T>G	CA401365050	GAA	c.1148T>G (p.Ile383Ser)
17	g.80108562C>A	CA502402414	GAA	c.1149C>A (p.Ile383=)
17	g.80108562C>G	CA401365051	GAA	c.1149C>G (p.Ile383Met)	gnomAD v4
17	g.80108562C>T	CA502402413	GAA	c.1149C>T (p.Ile383=)	ClinVar COSMIC
17	g.80108563A=	CA2277812828	GAA	c.1150A= (p.Thr384=)
17	g.80108563A>C	CA401365052	GAA	c.1150A>C (p.Thr384Pro)	dbSNP gnomAD v4
17	g.80108563A>G	CA401365053	GAA	c.1150A>G (p.Thr384Ala)	gnomAD v4
17	g.80108563A>T	CA401365054	GAA	c.1150A>T (p.Thr384Ser)
17	g.80108563_80108564delinsAC	CA2277812827	GAA	c.1150_1151delinsAC (p.Thr384=)
17	g.80108564C>A	CA401365055	GAA	c.1151C>A (p.Thr384Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108564C=	CA2277812829	GAA	c.1151C= (p.Thr384=)
17	g.80108564C>G	CA401365056	GAA	c.1151C>G (p.Thr384Ser)
17	g.80108564C>T	CA401365057	GAA	c.1151C>T (p.Thr384Ile)	dbSNP
17	g.80108566del	CA658798978	GAA	c.1153del (p.Arg385AlafsTer7)	ClinVar dbSNP
17	g.80108565C>A	CA502402415	GAA	c.1152C>A (p.Thr384=)
17	g.80108565C>G	CA502402417	GAA	c.1152C>G (p.Thr384=)
17	g.80108565C>T	CA502402416	GAA	c.1152C>T (p.Thr384=)
17	g.80108566C>A	CA401365059	GAA	c.1153C>A (p.Arg385Ser)
17	g.80108566C=	CA2277812830	GAA	c.1153C= (p.Arg385=)
17	g.80108566C>G	CA401365058	GAA	c.1153C>G (p.Arg385Gly)
17	g.80108566C>T	CA8815183	GAA	c.1153C>T (p.Arg385Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108567G>A	CA8815184	GAA	c.1154G>A (p.Arg385His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108567G>C	CA401365060	GAA	c.1154G>C (p.Arg385Pro)
17	g.80108567G=	CA2277812831	GAA	c.1154G= (p.Arg385=)
17	g.80108567G>T	CA401365061	GAA	c.1154G>T (p.Arg385Leu)	gnomAD v4
17	g.80108568C>A	CA502402418	GAA	c.1155C>A (p.Arg385=)	COSMIC
17	g.80108568C>G	CA502402419	GAA	c.1155C>G (p.Arg385=)	ClinVar
17	g.80108568C>T	CA502402420	GAA	c.1155C>T (p.Arg385=)	ClinVar dbSNP
17	g.80108569C>A	CA401365062	GAA	c.1156C>A (p.Gln386Lys)
17	g.80108569C=	CA2277812832	GAA	c.1156C= (p.Gln386=)
17	g.80108569C>G	CA401365063	GAA	c.1156C>G (p.Gln386Glu)
17	g.80108569C>T	CA274049	GAA	c.1156C>T (p.Gln386Ter)	ClinVar dbSNP
17	g.80108570A=	CA2277812834	GAA	c.1157A= (p.Gln386=)
17	g.80108570A>C	CA401365064	GAA	c.1157A>C (p.Gln386Pro)
17	g.80108570A>G	CA401365065	GAA	c.1157A>G (p.Gln386Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.80108570A>T	CA401365066	GAA	c.1157A>T (p.Gln386Leu)
17	g.80108570dup	CA658655614	GAA	c.1157dup (p.Val387GlyfsTer?)
17	g.80108570_80108573delinsAGGT	CA2277812833	GAA	c.1157_1160delinsAGGT (p.Gln386=)
17	g.80108571G>A	CA502402421	GAA	c.1158G>A (p.Gln386=)	dbSNP gnomAD v2 gnomAD v4
17	g.80108571G>C	CA401365067	GAA	c.1158G>C (p.Gln386His)
17	g.80108571G=	CA2277812835	GAA	c.1158G= (p.Gln386=)
17	g.80108571G>T	CA401365068	GAA	c.1158G>T (p.Gln386His)	ClinVar dbSNP gnomAD v4
17	g.80108576_80108578del	CA8815185	GAA	c.1163_1165del (p.Val388del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108572G>A	CA401365070	GAA	c.1159G>A (p.Val387Met)	dbSNP gnomAD v3 gnomAD v4
17	g.80108572G>C	CA401365071	GAA	c.1159G>C (p.Val387Leu)	gnomAD v4
17	g.80108572G=	CA2277812836	GAA	c.1159G= (p.Val387=)
17	g.80108572G>T	CA401365069	GAA	c.1159G>T (p.Val387Leu)
17	g.80108573T>A	CA401365074	GAA	c.1160T>A (p.Val387Glu)
17	g.80108573T>C	CA401365072	GAA	c.1160T>C (p.Val387Ala)	ClinVar gnomAD v4
17	g.80108573T>G	CA401365073	GAA	c.1160T>G (p.Val387Gly)
17	g.80108574G>A	CA502402422	GAA	c.1161G>A (p.Val387=)
17	g.80108574G>C	CA8815186	GAA	c.1161G>C (p.Val387=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108574G=	CA2277812837	GAA	c.1161G= (p.Val387=)
17	g.80108574G>T	CA502402423	GAA	c.1161G>T (p.Val387=)
17	g.80108575G>A	CA8815187	GAA	c.1162G>A (p.Val388Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108575G>C	CA401365075	GAA	c.1162G>C (p.Val388Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.80108575G=	CA2277812838	GAA	c.1162G= (p.Val388=)
17	g.80108575G>T	CA401365076	GAA	c.1162G>T (p.Val388Leu)
17	g.80108576_80108577del	CA913014093	GAA	c.1163_1164del (p.Val388GlyfsTer?)
17	g.80108576T>A	CA401365077	GAA	c.1163T>A (p.Val388Glu)	gnomAD v4
17	g.80108576T>C	CA401365078	GAA	c.1163T>C (p.Val388Ala)
17	g.80108576T>G	CA401365079	GAA	c.1163T>G (p.Val388Gly)
17	g.80108576_80108577delinsTG	CA2277812839	GAA	c.1163_1164delinsTG (p.Val388=)
17	g.80108577G>A	CA502402424	GAA	c.1164G>A (p.Val388=)	ClinVar dbSNP
17	g.80108577G>C	CA502402425	GAA	c.1164G>C (p.Val388=)
17	g.80108577G>T	CA502402426	GAA	c.1164G>T (p.Val388=)
17	g.80108578del	CA658795242	GAA	c.1165del (p.Glu389ArgfsTer3)	ClinVar dbSNP gnomAD v4
17	g.80108578G>A	CA8815188	GAA	c.1165G>A (p.Glu389Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108578G>C	CA401365080	GAA	c.1165G>C (p.Glu389Gln)
17	g.80108578G=	CA2277812840	GAA	c.1165G= (p.Glu389=)
17	g.80108578G>T	CA401365081	GAA	c.1165G>T (p.Glu389Ter)
17	g.80108579A>C	CA401365084	GAA	c.1166A>C (p.Glu389Ala)
17	g.80108579A>G	CA401365082	GAA	c.1166A>G (p.Glu389Gly)
17	g.80108579A>T	CA401365083	GAA	c.1166A>T (p.Glu389Val)
17	g.80108580G>A	CA502402427	GAA	c.1167G>A (p.Glu389=)
17	g.80108580G>C	CA401365085	GAA	c.1167G>C (p.Glu389Asp)
17	g.80108580G>T	CA401365086	GAA	c.1167G>T (p.Glu389Asp)
17	g.80108581A>C	CA401365087	GAA	c.1168A>C (p.Asn390His)
17	g.80108581A>G	CA401365088	GAA	c.1168A>G (p.Asn390Asp)
17	g.80108581A>T	CA401365089	GAA	c.1168A>T (p.Asn390Tyr)
17	g.80108582A>C	CA401365090	GAA	c.1169A>C (p.Asn390Thr)	gnomAD v4
17	g.80108582A>G	CA401365091	GAA	c.1169A>G (p.Asn390Ser)
17	g.80108582A>T	CA401365092	GAA	c.1169A>T (p.Asn390Ile)
17	g.80108583C>A	CA401365093	GAA	c.1170C>A (p.Asn390Lys)
17	g.80108583C=	CA2277812841	GAA	c.1170C= (p.Asn390=)
17	g.80108583C>G	CA401365094	GAA	c.1170C>G (p.Asn390Lys)	gnomAD v4
17	g.80108583C>T	CA8815189	GAA	c.1170C>T (p.Asn390=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108584A=	CA2277812842	GAA	c.1171A= (p.Met391=)
17	g.80108584A>C	CA401365096	GAA	c.1171A>C (p.Met391Leu)
17	g.80108584A>G	CA8815190	GAA	c.1171A>G (p.Met391Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108584A>T	CA401365095	GAA	c.1171A>T (p.Met391Leu)
17	g.80108585T>A	CA401365097	GAA	c.1172T>A (p.Met391Lys)	ClinVar
17	g.80108585T>C	CA8815191	GAA	c.1172T>C (p.Met391Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108585T>G	CA401365098	GAA	c.1172T>G (p.Met391Arg)
17	g.80108585T=	CA2277812843	GAA	c.1172T= (p.Met391=)
17	g.80108586G>A	CA401365099	GAA	c.1173G>A (p.Met391Ile)	ClinVar dbSNP COSMIC
17	g.80108586G>C	CA401365100	GAA	c.1173G>C (p.Met391Ile)
17	g.80108586G>T	CA401365101	GAA	c.1173G>T (p.Met391Ile)
17	g.80108587A>C	CA401365104	GAA	c.1174A>C (p.Thr392Pro)
17	g.80108587A>G	CA401365102	GAA	c.1174A>G (p.Thr392Ala)	COSMIC
17	g.80108587A>T	CA401365103	GAA	c.1174A>T (p.Thr392Ser)
17	g.80108588C>A	CA401365105	GAA	c.1175C>A (p.Thr392Asn)	dbSNP
17	g.80108588C=	CA2277812844	GAA	c.1175C= (p.Thr392=)
17	g.80108588C>G	CA401365106	GAA	c.1175C>G (p.Thr392Ser)
17	g.80108588C>T	CA401365107	GAA	c.1175C>T (p.Thr392Ile)
17	g.80108589C>A	CA502402428	GAA	c.1176C>A (p.Thr392=)
17	g.80108589C>G	CA502402429	GAA	c.1176C>G (p.Thr392=)
17	g.80108589C>T	CA502402430	GAA	c.1176C>T (p.Thr392=)	ClinVar dbSNP gnomAD v4
17	g.80108590A>C	CA502402431	GAA	c.1177A>C (p.Arg393=)
17	g.80108590A>G	CA401365108	GAA	c.1177A>G (p.Arg393Gly)
17	g.80108590A>T	CA401365109	GAA	c.1177A>T (p.Arg393Trp)
17	g.80108591G>A	CA401365110	GAA	c.1178G>A (p.Arg393Lys)
17	g.80108591G>C	CA401365112	GAA	c.1178G>C (p.Arg393Thr)	ClinVar dbSNP
17	g.80108591G=	CA2277812845	GAA	c.1178G= (p.Arg393=)
17	g.80108591G>T	CA401365111	GAA	c.1178G>T (p.Arg393Met)
17	g.80108592G>A	CA502402432	GAA	c.1179G>A (p.Arg393=)
17	g.80108592G>C	CA401365113	GAA	c.1179G>C (p.Arg393Ser)
17	g.80108592G>T	CA401365114	GAA	c.1179G>T (p.Arg393Ser)
17	g.80108593G>A	CA294892303	GAA	c.1180G>A (p.Ala394Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108593G>C	CA401365115	GAA	c.1180G>C (p.Ala394Pro)	COSMIC
17	g.80108593G=	CA2277812846	GAA	c.1180G= (p.Ala394=)
17	g.80108593G>T	CA401365116	GAA	c.1180G>T (p.Ala394Ser)
17	g.80108594C>A	CA401365117	GAA	c.1181C>A (p.Ala394Asp)
17	g.80108594C>G	CA401365118	GAA	c.1181C>G (p.Ala394Gly)	gnomAD v4
17	g.80108594C>T	CA401365119	GAA	c.1181C>T (p.Ala394Val)
17	g.80108595C>A	CA502402433	GAA	c.1182C>A (p.Ala394=)
17	g.80108595C=	CA2277812847	GAA	c.1182C= (p.Ala394=)
17	g.80108595C>G	CA502402434	GAA	c.1182C>G (p.Ala394=)	gnomAD v4
17	g.80108595C>T	CA8815192	GAA	c.1182C>T (p.Ala394=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108596C>A	CA401365120	GAA	c.1183C>A (p.His395Asn)
17	g.80108596C>G	CA401365121	GAA	c.1183C>G (p.His395Asp)
17	g.80108596C>T	CA401365122	GAA	c.1183C>T (p.His395Tyr)
17	g.80108597A=	CA2277812848	GAA	c.1184A= (p.His395=)
17	g.80108597A>C	CA401365123	GAA	c.1184A>C (p.His395Pro)	gnomAD v4
17	g.80108597A>G	CA401365124	GAA	c.1184A>G (p.His395Arg)	ClinVar dbSNP gnomAD v4
17	g.80108597A>T	CA8815193	GAA	c.1184A>T (p.His395Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108598C>A	CA401365126	GAA	c.1185C>A (p.His395Gln)	gnomAD v4 COSMIC
17	g.80108598C>G	CA401365125	GAA	c.1185C>G (p.His395Gln)
17	g.80108598C>T	CA502402435	GAA	c.1185C>T (p.His395=)	ClinVar dbSNP
17	g.80108599T>A	CA401365128	GAA	c.1186T>A (p.Phe396Ile)
17	g.80108599T>C	CA401365127	GAA	c.1186T>C (p.Phe396Leu)
17	g.80108599T>G	CA8815194	GAA	c.1186T>G (p.Phe396Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108599T=	CA2277812849	GAA	c.1186T= (p.Phe396=)
17	g.80108600T>A	CA401365129	GAA	c.1187T>A (p.Phe396Tyr)
17	g.80108600T>C	CA401365130	GAA	c.1187T>C (p.Phe396Ser)
17	g.80108600T>G	CA401365131	GAA	c.1187T>G (p.Phe396Cys)	gnomAD v4
17	g.80108600_80108601delinsTC	CA2277812850	GAA	c.1187_1188delinsTC (p.Phe396=)
17	g.80108601C>A	CA401365132	GAA	c.1188C>A (p.Phe396Leu)
17	g.80108601C=	CA2277812851	GAA	c.1188C= (p.Phe396=)
17	g.80108601C>G	CA8815195	GAA	c.1188C>G (p.Phe396Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108601C>T	CA502402436	GAA	c.1188C>T (p.Phe396=)	ClinVar dbSNP COSMIC
17	g.80108605dup	CA16041890	GAA	c.1192dup (p.Leu398ProfsTer?)	ClinVar dbSNP
17	g.80108605del	CA628018372	GAA	c.1192del (p.Leu398TrpfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108602C>A	CA401365133	GAA	c.1189C>A (p.Pro397Thr)
17	g.80108602C>G	CA401365134	GAA	c.1189C>G (p.Pro397Ala)
17	g.80108602C>T	CA401365135	GAA	c.1189C>T (p.Pro397Ser)
17	g.80108603C>A	CA401365136	GAA	c.1190C>A (p.Pro397His)
17	g.80108603C=	CA2277812852	GAA	c.1190C= (p.Pro397=)
17	g.80108603C>G	CA8815196	GAA	c.1190C>G (p.Pro397Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108603C>T	CA8815197	GAA	c.1190C>T (p.Pro397Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.80108604C>A	CA502402437	GAA	c.1191C>A (p.Pro397=)
17	g.80108604C=	CA2277812853	GAA	c.1191C= (p.Pro397=)
17	g.80108604C>G	CA294892311	GAA	c.1191C>G (p.Pro397=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108604C>T	CA502402438	GAA	c.1191C>T (p.Pro397=)	ClinVar gnomAD v4
17	g.80108605C>A	CA8815198	GAA	c.1192C>A (p.Leu398Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108605C=	CA2277812854	GAA	c.1192C= (p.Leu398=)
17	g.80108605C>G	CA401365137	GAA	c.1192C>G (p.Leu398Val)
17	g.80108605C>T	CA8815199	GAA	c.1192C>T (p.Leu398=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108605_80108606delinsCT	CA2277812855	GAA	c.1192_1193delinsCT (p.Leu398=)
17	g.80108606del	CA16041891	GAA	c.1193del (p.Leu398ArgfsTer?)	ClinVar dbSNP gnomAD v4
17	g.80108606T>A	CA401365138	GAA	c.1193T>A (p.Leu398Gln)
17	g.80108606T>C	CA401365139	GAA	c.1193T>C (p.Leu398Pro)	ClinVar dbSNP
17	g.80108606T>G	CA401365140	GAA	c.1193T>G (p.Leu398Arg)
17	g.80108606T=	CA2277812856	GAA	c.1193T= (p.Leu398=)
17	g.80108606_80108628delinsTGGTGAGTTGGGGTGGTGGCAGG	CA2277812857	GAA	c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
17	g.80108607G>A	CA502402441	GAA	c.1194G>A (p.Leu398=)
17	g.80108607G>C	CA502402439	GAA	c.1194G>C (p.Leu398=)
17	g.80108607G>T	CA502402440	GAA	c.1194G>T (p.Leu398=)
17	g.80108609_80108630del	CA919905431	GAA	c.1194+2_1194+23del	dbSNP gnomAD v4
17	g.80108609_80108697del	CA2810576509	GAA	c.1194+2_1195del
17	g.80108608G>A	CA401365141	GAA	c.1194+1G>A (n.1194+1G>A)
17	g.80108608G>C	CA401365142	GAA	c.1194+1G>C (n.1194+1G>C)
17	g.80108608G>T	CA401365143	GAA	c.1194+1G>T (n.1194+1G>T)
17	g.80108609T>A	CA401365144	GAA	c.1194+2T>A (n.1194+2T>A)
17	g.80108609T>C	CA16041892	GAA	c.1194+2T>C (n.1194+2T>C)	ClinVar dbSNP
17	g.80108609T>G	CA401365145	GAA	c.1194+2T>G (n.1194+2T>G)	ClinVar
17	g.80108609T=	CA2277812858	GAA	c.1194+2T= (n.1194+2T=)
17	g.80108610G>C	CA247031	GAA	c.1194+3G>C (n.1194+3G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108610G=	CA2277812859	GAA	c.1194+3G= (n.1194+3G=)
17	g.80108610G>T	CA2525810184	GAA	c.1194+3G>T (n.1194+3G>T)	ClinVar dbSNP
17	g.80108612G>A	CA658795243	GAA	c.1194+5G>A (n.1194+5G>A)	ClinVar dbSNP gnomAD v4
17	g.80108612G=	CA2277812860	GAA	c.1194+5G= (n.1194+5G=)
17	g.80108613T>C	CA628018373	GAA	c.1194+6T>C (n.1194+6T>C)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108613T=	CA2277812861	GAA	c.1194+6T= (n.1194+6T=)
17	g.80108615G>T	CA2499225005	GAA	c.1194+8G>T (n.1194+8G>T)	ClinVar dbSNP
17	g.80108618del	CA2573154956	GAA	c.1194+11del (n.1194+11del)	ClinVar dbSNP
17	g.80108616G>A	CA8815200	GAA	c.1194+9G>A (n.1194+9G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108616G=	CA2277812862	GAA	c.1194+9G= (n.1194+9G=)
17	g.80108616G>T	CA2580095329	GAA	c.1194+9G>T (n.1194+9G>T)	ClinVar gnomAD v4
17	g.80108617G>A	CA2573154957	GAA	c.1194+10G>A (n.1194+10G>A)	ClinVar dbSNP
17	g.80108617G>T	CA2740093941	GAA	c.1194+10G>T (n.1194+10G>T)	ClinVar
17	g.80108618G=	CA2277812863	GAA	c.1194+11G= (n.1194+11G=)
17	g.80108618G>T	CA775512744	GAA	c.1194+11G>T (n.1194+11G>T)	ClinVar dbSNP gnomAD v4
17	g.80108619T>A	CA294892362	GAA	c.1194+12T>A (n.1194+12T>A)	dbSNP gnomAD v3 gnomAD v4
17	g.80108619T=	CA2277812864	GAA	c.1194+12T= (n.1194+12T=)
17	g.80108620G>A	CA8815201	GAA	c.1194+13G>A (n.1194+13G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108620G=	CA2277812865	GAA	c.1194+13G= (n.1194+13G=)
17	g.80108620G>T	CA2277812866	GAA	c.1194+13G>T (n.1194+13G>T)	dbSNP
17	g.80108622T>A	CA628018374	GAA	c.1194+15T>A (n.1194+15T>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108622T>C	CA2697555247	GAA	c.1194+15T>C (n.1194+15T>C)	ClinVar
17	g.80108622T=	CA2277812868	GAA	c.1194+15T= (n.1194+15T=)
17	g.80108622_80108625delinsTGGC	CA2277812867	GAA	c.1194+15_1194+18delinsTGGC (n.1194+15_1194+18delinsTGGC)
17	g.80108623G>A	CA2810576512	GAA	c.1194+16G>A (n.1194+16G>A)
17	g.80108623_80108625del	CA8815202	GAA	c.1194+16_1194+18del (n.1194+16_1194+18del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108624G>A	CA2741558922	GAA	c.1194+17G>A (n.1194+17G>A)
17	g.80108624G=	CA2277812869	GAA	c.1194+17G= (n.1194+17G=)
17	g.80108624G>T	CA8815203	GAA	c.1194+17G>T (n.1194+17G>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108625_80108627del	CA401365146	GAA	c.1194+18_1194+20del (n.1194+18_1194+20del)
17	g.80108625C=	CA2277812870	GAA	c.1194+18C= (n.1194+18C=)
17	g.80108625C>T	CA628018375	GAA	c.1194+18C>T (n.1194+18C>T)	gnomAD v2
17	g.80108626A>G	CA2640286287	GAA	c.1194+19A>G (n.1194+19A>G)	gnomAD v4
17	g.80108626dup	CA8815204	GAA	c.1194+19dup (n.1194+19dup)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108626_80108627del	CA2640286285	GAA	c.1194+19_1194+20del (n.1194+19_1194+20del)	gnomAD v4
17	g.80108627G>A	CA8815205	GAA	c.1194+20G>A (n.1194+20G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108627G>C	CA2580095330	GAA	c.1194+20G>C (n.1194+20G>C)	ClinVar gnomAD v4
17	g.80108627G=	CA2277812871	GAA	c.1194+20G= (n.1194+20G=)
17	g.80108630del	CA2640286295	GAA	c.1194+23del (n.1194+23del)	gnomAD v4
17	g.80108628G>A	CA2277812873	GAA	c.1194+21G>A (n.1194+21G>A)	dbSNP gnomAD v4
17	g.80108628G=	CA2277812872	GAA	c.1194+21G= (n.1194+21G=)
17	g.80108630G>A	CA2640286304	GAA	c.1194+23G>A (n.1194+23G>A)	gnomAD v4
17	g.80108630G=	CA2277812874	GAA	c.1194+23G= (n.1194+23G=)
17	g.80108630G>T	CA628018376	GAA	c.1194+23G>T (n.1194+23G>T)	dbSNP gnomAD v2 gnomAD v4
17	g.80108631A=	CA2277812875	GAA	c.1194+24A= (n.1194+24A=)
17	g.80108632G>A	CA986705901	GAA	c.1194+25G>A (n.1194+25G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.80108632G>C	CA2598861758	GAA	c.1194+25G>C (n.1194+25G>C)	gnomAD v3 gnomAD v4
17	g.80108632G=	CA2277812876	GAA	c.1194+25G= (n.1194+25G=)
17	g.80108633dup	CA8815206	GAA	c.1194+26dup (n.1194+26dup)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108633G>A	CA628018377	GAA	c.1194+26G>A (n.1194+26G>A)	dbSNP gnomAD v2 gnomAD v4
17	g.80108633G=	CA2277812877	GAA	c.1194+26G= (n.1194+26G=)
17	g.80108634C>A	CA2576414018	GAA	c.1194+27C>A (n.1194+27C>A)

Number of alleles fetched