Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
20	g.49905991G>A	CA315122023	SPATA2	c.1191C>T (p.Arg397=)	dbSNP gnomAD v2 gnomAD v4
20	g.49905991G>C	CA511018084	SPATA2	c.1191C>G (p.Arg397=)	dbSNP
20	g.49905991G=	CA2368281388	SPATA2	c.1191C= (p.Arg397=)
20	g.49905991G>T	CA511018085	SPATA2	c.1191C>A (p.Arg397=)	gnomAD v4
20	g.49905992C>A	CA408947220	SPATA2	c.1190G>T (p.Arg397Leu)	dbSNP
20	g.49905992C=	CA2368281389	SPATA2	c.1190G= (p.Arg397=)
20	g.49905992C>G	CA408947224	SPATA2	c.1190G>C (p.Arg397Pro)
20	g.49905992C>T	CA9904875	SPATA2	c.1190G>A (p.Arg397His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49905993G>A	CA9904876	SPATA2	c.1189C>T (p.Arg397Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49905993G>C	CA408947234	SPATA2	c.1189C>G (p.Arg397Gly)
20	g.49905993G=	CA2368281390	SPATA2	c.1189C= (p.Arg397=)
20	g.49905993G>T	CA408947237	SPATA2	c.1189C>A (p.Arg397Ser)	gnomAD v4
20	g.49905994C>A	CA408947240	SPATA2	c.1188G>T (p.Gln396His)
20	g.49905994C>G	CA408947243	SPATA2	c.1188G>C (p.Gln396His)
20	g.49905994C>T	CA511018087	SPATA2	c.1188G>A (p.Gln396=)	gnomAD v4
20	g.49905995T>A	CA408947249	SPATA2	c.1187A>T (p.Gln396Leu)
20	g.49905995T>C	CA408947254	SPATA2	c.1187A>G (p.Gln396Arg)	dbSNP gnomAD v3 gnomAD v4
20	g.49905995T>G	CA408947256	SPATA2	c.1187A>C (p.Gln396Pro)
20	g.49905995T=	CA2368281391	SPATA2	c.1187A= (p.Gln396=)
20	g.49905996G>A	CA408947274	SPATA2	c.1186C>T (p.Gln396Ter)
20	g.49905996G>C	CA408947264	SPATA2	c.1186C>G (p.Gln396Glu)
20	g.49905996G>T	CA408947259	SPATA2	c.1186C>A (p.Gln396Lys)	gnomAD v4
20	g.49905997G>A	CA511018088	SPATA2	c.1185C>T (p.Cys395=)	dbSNP gnomAD v2 gnomAD v4
20	g.49905997G>C	CA408947280	SPATA2	c.1185C>G (p.Cys395Trp)
20	g.49905997G=	CA2368281392	SPATA2	c.1185C= (p.Cys395=)
20	g.49905997G>T	CA408947283	SPATA2	c.1185C>A (p.Cys395Ter)
20	g.49905998C>A	CA408947288	SPATA2	c.1184G>T (p.Cys395Phe)
20	g.49905998C>G	CA408947294	SPATA2	c.1184G>C (p.Cys395Ser)
20	g.49905998C>T	CA408947297	SPATA2	c.1184G>A (p.Cys395Tyr)	gnomAD v4
20	g.49905999A>C	CA408947305	SPATA2	c.1183T>G (p.Cys395Gly)
20	g.49905999A>G	CA408947308	SPATA2	c.1183T>C (p.Cys395Arg)
20	g.49905999A>T	CA408947309	SPATA2	c.1183T>A (p.Cys395Ser)
20	g.49906000G>A	CA511018093	SPATA2	c.1182C>T (p.Leu394=)
20	g.49906000G>C	CA511018094	SPATA2	c.1182C>G (p.Leu394=)
20	g.49906000G>T	CA511018092	SPATA2	c.1182C>A (p.Leu394=)	gnomAD v4
20	g.49906001A>C	CA408947310	SPATA2	c.1181T>G (p.Leu394Arg)
20	g.49906001A>G	CA408947312	SPATA2	c.1181T>C (p.Leu394Pro)
20	g.49906001A>T	CA408947314	SPATA2	c.1181T>A (p.Leu394His)
20	g.49906002G>A	CA408947325	SPATA2	c.1180C>T (p.Leu394Phe)	dbSNP gnomAD v2 gnomAD v4
20	g.49906002G>C	CA9904877	SPATA2	c.1180C>G (p.Leu394Val)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.49906002G=	CA2368281393	SPATA2	c.1180C= (p.Leu394=)
20	g.49906002G>T	CA408947320	SPATA2	c.1180C>A (p.Leu394Ile)	gnomAD v4
20	g.49906003G>A	CA511018098	SPATA2	c.1179C>T (p.Ser393=)	gnomAD v4
20	g.49906003G>C	CA511018096	SPATA2	c.1179C>G (p.Ser393=)
20	g.49906003G>T	CA511018097	SPATA2	c.1179C>A (p.Ser393=)
20	g.49906004G>A	CA408947328	SPATA2	c.1178C>T (p.Ser393Phe)
20	g.49906004G>C	CA408947329	SPATA2	c.1178C>G (p.Ser393Cys)
20	g.49906004G>T	CA408947330	SPATA2	c.1178C>A (p.Ser393Tyr)	dbSNP gnomAD v4
20	g.49906005A>C	CA408947333	SPATA2	c.1177T>G (p.Ser393Ala)
20	g.49906005A>G	CA408947338	SPATA2	c.1177T>C (p.Ser393Pro)
20	g.49906005A>T	CA408947339	SPATA2	c.1177T>A (p.Ser393Thr)
20	g.49906006G>A	CA511018100	SPATA2	c.1176C>T (p.Ser392=)	dbSNP gnomAD v2 gnomAD v4
20	g.49906006G>C	CA511018102	SPATA2	c.1176C>G (p.Ser392=)
20	g.49906006G=	CA2368281394	SPATA2	c.1176C= (p.Ser392=)
20	g.49906006G>T	CA511018101	SPATA2	c.1176C>A (p.Ser392=)
20	g.49906007G>A	CA408947340	SPATA2	c.1175C>T (p.Ser392Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.49906007G>C	CA408947343	SPATA2	c.1175C>G (p.Ser392Cys)
20	g.49906007G=	CA2368281395	SPATA2	c.1175C= (p.Ser392=)
20	g.49906007G>T	CA408947345	SPATA2	c.1175C>A (p.Ser392Tyr)
20	g.49906008A>C	CA408947347	SPATA2	c.1174T>G (p.Ser392Ala)
20	g.49906008A>G	CA408947352	SPATA2	c.1174T>C (p.Ser392Pro)
20	g.49906008A>T	CA408947355	SPATA2	c.1174T>A (p.Ser392Thr)
20	g.49906009G>A	CA511018104	SPATA2	c.1173C>T (p.Ser391=)
20	g.49906009G>C	CA408947366	SPATA2	c.1173C>G (p.Ser391Arg)
20	g.49906009G>T	CA408947364	SPATA2	c.1173C>A (p.Ser391Arg)	gnomAD v4
20	g.49906010C>A	CA408947369	SPATA2	c.1172G>T (p.Ser391Ile)	dbSNP gnomAD v2 gnomAD v4
20	g.49906010C=	CA2368281396	SPATA2	c.1172G= (p.Ser391=)
20	g.49906010C>G	CA9904878	SPATA2	c.1172G>C (p.Ser391Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49906010C>T	CA408947373	SPATA2	c.1172G>A (p.Ser391Asn)
20	g.49906011T>A	CA408947377	SPATA2	c.1171A>T (p.Ser391Cys)
20	g.49906011T>C	CA9904879	SPATA2	c.1171A>G (p.Ser391Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.49906011T>G	CA408947384	SPATA2	c.1171A>C (p.Ser391Arg)
20	g.49906011T=	CA2368281398	SPATA2	c.1171A= (p.Ser391=)
20	g.49906011_49906014delinsTGCA	CA2368281397	SPATA2	c.1168_1171delinsTGCA (p.Cys390=)
20	g.49906012G>A	CA511018106	SPATA2	c.1170C>T (p.Cys390=)	gnomAD v4
20	g.49906012G>C	CA408947387	SPATA2	c.1170C>G (p.Cys390Trp)
20	g.49906012G>T	CA408947390	SPATA2	c.1170C>A (p.Cys390Ter)
20	g.49906013_49906015del	CA9904880	SPATA2	c.1168_1170del (p.Cys390del)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.49906013C>A	CA408947394	SPATA2	c.1169G>T (p.Cys390Phe)
20	g.49906013C=	CA2368281399	SPATA2	c.1169G= (p.Cys390=)
20	g.49906013C>G	CA408947395	SPATA2	c.1169G>C (p.Cys390Ser)
20	g.49906013C>T	CA408947397	SPATA2	c.1169G>A (p.Cys390Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.49906014A>C	CA408947401	SPATA2	c.1168T>G (p.Cys390Gly)
20	g.49906014A>G	CA408947399	SPATA2	c.1168T>C (p.Cys390Arg)
20	g.49906014A>T	CA408947398	SPATA2	c.1168T>A (p.Cys390Ser)
20	g.49906015G>A	CA511018110	SPATA2	c.1167C>T (p.Ser389=)
20	g.49906015G>C	CA511018111	SPATA2	c.1167C>G (p.Ser389=)	gnomAD v4
20	g.49906015G>T	CA511018112	SPATA2	c.1167C>A (p.Ser389=)	gnomAD v4
20	g.49906016G>A	CA408947403	SPATA2	c.1166C>T (p.Ser389Phe)	COSMIC
20	g.49906016G>C	CA408947407	SPATA2	c.1166C>G (p.Ser389Cys)
20	g.49906016G>T	CA408947406	SPATA2	c.1166C>A (p.Ser389Tyr)	gnomAD v4
20	g.49906017A>C	CA408947410	SPATA2	c.1165T>G (p.Ser389Ala)
20	g.49906017A>G	CA408947412	SPATA2	c.1165T>C (p.Ser389Pro)
20	g.49906017A>T	CA408947415	SPATA2	c.1165T>A (p.Ser389Thr)
20	g.49906018C>A	CA511018113	SPATA2	c.1164G>T (p.Leu388=)	gnomAD v4
20	g.49906018C>G	CA511018114	SPATA2	c.1164G>C (p.Leu388=)
20	g.49906018C>T	CA511018115	SPATA2	c.1164G>A (p.Leu388=)	gnomAD v4
20	g.49906019A>C	CA408947420	SPATA2	c.1163T>G (p.Leu388Arg)
20	g.49906019A>G	CA408947425	SPATA2	c.1163T>C (p.Leu388Pro)
20	g.49906019A>T	CA408947427	SPATA2	c.1163T>A (p.Leu388Gln)
20	g.49906020G>A	CA511018116	SPATA2	c.1162C>T (p.Leu388=)
20	g.49906020G>C	CA408947432	SPATA2	c.1162C>G (p.Leu388Val)
20	g.49906020G>T	CA408947434	SPATA2	c.1162C>A (p.Leu388Met)
20	g.49906021C>A	CA511018122	SPATA2	c.1161G>T (p.Gly387=)	gnomAD v4
20	g.49906021C=	CA2368281400	SPATA2	c.1161G= (p.Gly387=)
20	g.49906021C>G	CA511018121	SPATA2	c.1161G>C (p.Gly387=)
20	g.49906021C>T	CA511018120	SPATA2	c.1161G>A (p.Gly387=)	dbSNP gnomAD v2 gnomAD v4
20	g.49906023del	CA2653280145	SPATA2	c.1161del (p.Leu388CysfsTer?)	gnomAD v4
20	g.49906022C>A	CA408947438	SPATA2	c.1160G>T (p.Gly387Val)	COSMIC
20	g.49906022C>G	CA408947441	SPATA2	c.1160G>C (p.Gly387Ala)
20	g.49906022C>T	CA408947445	SPATA2	c.1160G>A (p.Gly387Glu)
20	g.49906023C>A	CA408947456	SPATA2	c.1159G>T (p.Gly387Trp)	gnomAD v4
20	g.49906023C=	CA2368281401	SPATA2	c.1159G= (p.Gly387=)
20	g.49906023C>G	CA408947453	SPATA2	c.1159G>C (p.Gly387Arg)
20	g.49906023C>T	CA9904881	SPATA2	c.1159G>A (p.Gly387Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20	g.49906024G>A	CA9904882	SPATA2	c.1158C>T (p.Cys386=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49906024G>C	CA408947462	SPATA2	c.1158C>G (p.Cys386Trp)
20	g.49906024G=	CA2368281402	SPATA2	c.1158C= (p.Cys386=)
20	g.49906024G>T	CA408947463	SPATA2	c.1158C>A (p.Cys386Ter)	gnomAD v4
20	g.49906025C>A	CA408947464	SPATA2	c.1157G>T (p.Cys386Phe)	gnomAD v4
20	g.49906025C>G	CA408947466	SPATA2	c.1157G>C (p.Cys386Ser)
20	g.49906025C>T	CA408947467	SPATA2	c.1157G>A (p.Cys386Tyr)
20	g.49906026A>C	CA408947470	SPATA2	c.1156T>G (p.Cys386Gly)
20	g.49906026A>G	CA408947472	SPATA2	c.1156T>C (p.Cys386Arg)
20	g.49906026A>T	CA408947479	SPATA2	c.1156T>A (p.Cys386Ser)
20	g.49906027G>A	CA511018127	SPATA2	c.1155C>T (p.Ser385=)
20	g.49906027G>C	CA408947482	SPATA2	c.1155C>G (p.Ser385Arg)
20	g.49906027G>T	CA408947483	SPATA2	c.1155C>A (p.Ser385Arg)	gnomAD v4
20	g.49906028C>A	CA408947487	SPATA2	c.1154G>T (p.Ser385Ile)	gnomAD v4
20	g.49906028C>G	CA408947485	SPATA2	c.1154G>C (p.Ser385Thr)
20	g.49906028C>T	CA408947484	SPATA2	c.1154G>A (p.Ser385Asn)	gnomAD v4
20	g.49906029T>A	CA408947490	SPATA2	c.1153A>T (p.Ser385Cys)
20	g.49906029T>C	CA408947494	SPATA2	c.1153A>G (p.Ser385Gly)
20	g.49906029T>G	CA408947498	SPATA2	c.1153A>C (p.Ser385Arg)
20	g.49906030T>A	CA408947501	SPATA2	c.1152A>T (p.Gln384His)
20	g.49906030T>C	CA9904883	SPATA2	c.1152A>G (p.Gln384=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.49906030T>G	CA408947505	SPATA2	c.1152A>C (p.Gln384His)
20	g.49906030T=	CA2368281403	SPATA2	c.1152A= (p.Gln384=)
20	g.49906031T>A	CA408947517	SPATA2	c.1151A>T (p.Gln384Leu)
20	g.49906031T>C	CA408947511	SPATA2	c.1151A>G (p.Gln384Arg)
20	g.49906031T>G	CA408947515	SPATA2	c.1151A>C (p.Gln384Pro)
20	g.49906032G>A	CA408947519	SPATA2	c.1150C>T (p.Gln384Ter)
20	g.49906032G>C	CA408947522	SPATA2	c.1150C>G (p.Gln384Glu)
20	g.49906032G>T	CA408947526	SPATA2	c.1150C>A (p.Gln384Lys)
20	g.49906033G>A	CA511018129	SPATA2	c.1149C>T (p.Cys383=)
20	g.49906033G>C	CA408947530	SPATA2	c.1149C>G (p.Cys383Trp)
20	g.49906033G>T	CA408947546	SPATA2	c.1149C>A (p.Cys383Ter)
20	g.49906034C>A	CA408947549	SPATA2	c.1148G>T (p.Cys383Phe)
20	g.49906034C>G	CA408947553	SPATA2	c.1148G>C (p.Cys383Ser)
20	g.49906034C>T	CA408947551	SPATA2	c.1148G>A (p.Cys383Tyr)	gnomAD v4
20	g.49906035A>C	CA408947557	SPATA2	c.1147T>G (p.Cys383Gly)
20	g.49906035A>G	CA408947559	SPATA2	c.1147T>C (p.Cys383Arg)
20	g.49906035A>T	CA408947562	SPATA2	c.1147T>A (p.Cys383Ser)
20	g.49906036C>A	CA408947565	SPATA2	c.1146G>T (p.Lys382Asn)
20	g.49906036C>G	CA408947566	SPATA2	c.1146G>C (p.Lys382Asn)
20	g.49906036C>T	CA511018133	SPATA2	c.1146G>A (p.Lys382=)
20	g.49906037T>A	CA408947574	SPATA2	c.1145A>T (p.Lys382Met)
20	g.49906037T>C	CA9904884	SPATA2	c.1145A>G (p.Lys382Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.49906037T>G	CA408947578	SPATA2	c.1145A>C (p.Lys382Thr)
20	g.49906037T=	CA2368281404	SPATA2	c.1145A= (p.Lys382=)
20	g.49906038T>A	CA408947583	SPATA2	c.1144A>T (p.Lys382Ter)
20	g.49906038T>C	CA408947586	SPATA2	c.1144A>G (p.Lys382Glu)
20	g.49906038T>G	CA408947588	SPATA2	c.1144A>C (p.Lys382Gln)
20	g.49906039G>A	CA511018137	SPATA2	c.1143C>T (p.Ser381=)	gnomAD v4
20	g.49906039G>C	CA511018138	SPATA2	c.1143C>G (p.Ser381=)
20	g.49906039G>T	CA511018139	SPATA2	c.1143C>A (p.Ser381=)
20	g.49906040G>A	CA9904885	SPATA2	c.1142C>T (p.Ser381Phe)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49906040G>C	CA408947597	SPATA2	c.1142C>G (p.Ser381Cys)	dbSNP
20	g.49906040G=	CA2368281405	SPATA2	c.1142C= (p.Ser381=)
20	g.49906040G>T	CA408947593	SPATA2	c.1142C>A (p.Ser381Tyr)	gnomAD v4
20	g.49906041A=	CA2368281406	SPATA2	c.1141T= (p.Ser381=)
20	g.49906041A>C	CA408947605	SPATA2	c.1141T>G (p.Ser381Ala)
20	g.49906041A>G	CA408947603	SPATA2	c.1141T>C (p.Ser381Pro)	gnomAD v4
20	g.49906041A>T	CA408947608	SPATA2	c.1141T>A (p.Ser381Thr)	dbSNP
20	g.49906042G>A	CA315122061	SPATA2	c.1140C>T (p.Leu380=)	dbSNP gnomAD v2 gnomAD v4
20	g.49906042G>C	CA511018141	SPATA2	c.1140C>G (p.Leu380=)
20	g.49906042G=	CA2368281407	SPATA2	c.1140C= (p.Leu380=)
20	g.49906042G>T	CA511018142	SPATA2	c.1140C>A (p.Leu380=)
20	g.49906043A>C	CA408947610	SPATA2	c.1139T>G (p.Leu380Arg)
20	g.49906043A>G	CA408947611	SPATA2	c.1139T>C (p.Leu380Pro)
20	g.49906043A>T	CA408947613	SPATA2	c.1139T>A (p.Leu380His)
20	g.49906044G>A	CA9904886	SPATA2	c.1138C>T (p.Leu380Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.49906044G>C	CA408947618	SPATA2	c.1138C>G (p.Leu380Val)
20	g.49906044G=	CA2368281408	SPATA2	c.1138C= (p.Leu380=)
20	g.49906044G>T	CA408947621	SPATA2	c.1138C>A (p.Leu380Ile)	gnomAD v4
20	g.49906045G>A	CA511018146	SPATA2	c.1137C>T (p.Ala379=)	dbSNP gnomAD v3 gnomAD v4
20	g.49906045G>C	CA511018147	SPATA2	c.1137C>G (p.Ala379=)	dbSNP
20	g.49906045G=	CA2368281409	SPATA2	c.1137C= (p.Ala379=)
20	g.49906045G>T	CA511018148	SPATA2	c.1137C>A (p.Ala379=)	gnomAD v4
20	g.49906046G>A	CA9904887	SPATA2	c.1136C>T (p.Ala379Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49906046G>C	CA408947627	SPATA2	c.1136C>G (p.Ala379Gly)
20	g.49906046G=	CA2368281410	SPATA2	c.1136C= (p.Ala379=)
20	g.49906046G>T	CA408947635	SPATA2	c.1136C>A (p.Ala379Asp)
20	g.49906047del	CA2577424475	SPATA2	c.1135del (p.Ala379ProfsTer?)
20	g.49906047C>A	CA408947639	SPATA2	c.1135G>T (p.Ala379Ser)	gnomAD v4
20	g.49906047C=	CA2368281411	SPATA2	c.1135G= (p.Ala379=)
20	g.49906047C>G	CA408947643	SPATA2	c.1135G>C (p.Ala379Pro)
20	g.49906047C>T	CA9904888	SPATA2	c.1135G>A (p.Ala379Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.49906048G>A	CA9904889	SPATA2	c.1134C>T (p.Ser378=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49906048G>C	CA315122076	SPATA2	c.1134C>G (p.Ser378=)	dbSNP
20	g.49906048G=	CA2368281412	SPATA2	c.1134C= (p.Ser378=)
20	g.49906048G>T	CA315122078	SPATA2	c.1134C>A (p.Ser378=)	dbSNP
20	g.49906049G>A	CA9904890	SPATA2	c.1133C>T (p.Ser378Phe)	dbSNP ExAC gnomAD v2
20	g.49906049G>C	CA408947656	SPATA2	c.1133C>G (p.Ser378Cys)
20	g.49906049G=	CA2368281413	SPATA2	c.1133C= (p.Ser378=)
20	g.49906049G>T	CA408947660	SPATA2	c.1133C>A (p.Ser378Tyr)
20	g.49906050A=	CA2368281414	SPATA2	c.1132T= (p.Ser378=)
20	g.49906050A>C	CA408947664	SPATA2	c.1132T>G (p.Ser378Ala)
20	g.49906050A>G	CA408947668	SPATA2	c.1132T>C (p.Ser378Pro)
20	g.49906050A>T	CA9904891	SPATA2	c.1132T>A (p.Ser378Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49906051C>A	CA408947675	SPATA2	c.1131G>T (p.Glu377Asp)	gnomAD v4
20	g.49906051C>G	CA408947677	SPATA2	c.1131G>C (p.Glu377Asp)
20	g.49906051C>T	CA511018151	SPATA2	c.1131G>A (p.Glu377=)
20	g.49906052T>A	CA408947681	SPATA2	c.1130A>T (p.Glu377Val)
20	g.49906052T>C	CA408947682	SPATA2	c.1130A>G (p.Glu377Gly)
20	g.49906052T>G	CA408947683	SPATA2	c.1130A>C (p.Glu377Ala)
20	g.49906053C>A	CA408947686	SPATA2	c.1129G>T (p.Glu377Ter)	gnomAD v4
20	g.49906053C>G	CA408947690	SPATA2	c.1129G>C (p.Glu377Gln)	gnomAD v4
20	g.49906053C>T	CA408947693	SPATA2	c.1129G>A (p.Glu377Lys)
20	g.49906054T>A	CA408947703	SPATA2	c.1128A>T (p.Lys376Asn)
20	g.49906054T>C	CA9904892	SPATA2	c.1128A>G (p.Lys376=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.49906054T>G	CA408947696	SPATA2	c.1128A>C (p.Lys376Asn)
20	g.49906054T=	CA2368281415	SPATA2	c.1128A= (p.Lys376=)
20	g.49906055T>A	CA408947707	SPATA2	c.1127A>T (p.Lys376Ile)
20	g.49906055T>C	CA408947715	SPATA2	c.1127A>G (p.Lys376Arg)
20	g.49906055T>G	CA408947719	SPATA2	c.1127A>C (p.Lys376Thr)
20	g.49906056T>A	CA408947725	SPATA2	c.1126A>T (p.Lys376Ter)
20	g.49906056T>C	CA315122097	SPATA2	c.1126A>G (p.Lys376Glu)	dbSNP gnomAD v4
20	g.49906056T>G	CA408947731	SPATA2	c.1126A>C (p.Lys376Gln)
20	g.49906056T=	CA2368281416	SPATA2	c.1126A= (p.Lys376=)
20	g.49906057G>A	CA511018155	SPATA2	c.1125C>T (p.Ala375=)	gnomAD v4
20	g.49906057G>C	CA511018156	SPATA2	c.1125C>G (p.Ala375=)
20	g.49906057G>T	CA511018157	SPATA2	c.1125C>A (p.Ala375=)
20	g.49906058G>A	CA408947741	SPATA2	c.1124C>T (p.Ala375Val)
20	g.49906058G>C	CA408947746	SPATA2	c.1124C>G (p.Ala375Gly)	gnomAD v4
20	g.49906058G>T	CA408947760	SPATA2	c.1124C>A (p.Ala375Asp)
20	g.49906059C>A	CA408947766	SPATA2	c.1123G>T (p.Ala375Ser)
20	g.49906059C>G	CA408947769	SPATA2	c.1123G>C (p.Ala375Pro)
20	g.49906059C>T	CA408947772	SPATA2	c.1123G>A (p.Ala375Thr)	gnomAD v4
20	g.49906059_49906060delinsCA	CA2368281417	SPATA2	c.1122_1123delinsTG (p.Pro374=)
20	g.49906060del	CA920228913	SPATA2	c.1122del (p.Ala375ProfsTer?)	dbSNP gnomAD v3 gnomAD v4
20	g.49906060A>C	CA511018161	SPATA2	c.1122T>G (p.Pro374=)
20	g.49906060A>G	CA511018162	SPATA2	c.1122T>C (p.Pro374=)
20	g.49906060A>T	CA511018163	SPATA2	c.1122T>A (p.Pro374=)
20	g.49906061G>A	CA9904893	SPATA2	c.1121C>T (p.Pro374Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.49906061G>C	CA408947776	SPATA2	c.1121C>G (p.Pro374Arg)
20	g.49906061G=	CA2368281418	SPATA2	c.1121C= (p.Pro374=)
20	g.49906061G>T	CA408947774	SPATA2	c.1121C>A (p.Pro374His)	gnomAD v4
20	g.49906065dup	CA2653280208	SPATA2	c.1121dup (p.Ala375CysfsTer25)	gnomAD v4
20	g.49906062G>A	CA9904894	SPATA2	c.1120C>T (p.Pro374Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20	g.49906062G>C	CA408947781	SPATA2	c.1120C>G (p.Pro374Ala)
20	g.49906062G=	CA2368281419	SPATA2	c.1120C= (p.Pro374=)
20	g.49906062G>T	CA408947785	SPATA2	c.1120C>A (p.Pro374Thr)	gnomAD v4
20	g.49906063G>A	CA511018165	SPATA2	c.1119C>T (p.Pro373=)
20	g.49906063G>C	CA511018166	SPATA2	c.1119C>G (p.Pro373=)
20	g.49906063G>T	CA511018167	SPATA2	c.1119C>A (p.Pro373=)
20	g.49906064G>A	CA408947795	SPATA2	c.1118C>T (p.Pro373Leu)	dbSNP gnomAD v4
20	g.49906064G>C	CA408947797	SPATA2	c.1118C>G (p.Pro373Arg)	gnomAD v4
20	g.49906064G=	CA2368281420	SPATA2	c.1118C= (p.Pro373=)
20	g.49906064G>T	CA408947800	SPATA2	c.1118C>A (p.Pro373His)
20	g.49906065G>A	CA408947804	SPATA2	c.1117C>T (p.Pro373Ser)	gnomAD v4
20	g.49906065G>C	CA408947811	SPATA2	c.1117C>G (p.Pro373Ala)
20	g.49906065G>T	CA408947808	SPATA2	c.1117C>A (p.Pro373Thr)	gnomAD v4
20	g.49906066C>A	CA511018171	SPATA2	c.1116G>T (p.Ser372=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.49906066C=	CA2368281421	SPATA2	c.1116G= (p.Ser372=)
20	g.49906066C>G	CA511018172	SPATA2	c.1116G>C (p.Ser372=)
20	g.49906066C>T	CA9904895	SPATA2	c.1116G>A (p.Ser372=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49906067G>A	CA9904896	SPATA2	c.1115C>T (p.Ser372Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49906067G>C	CA408947818	SPATA2	c.1115C>G (p.Ser372Trp)
20	g.49906067G=	CA2368281422	SPATA2	c.1115C= (p.Ser372=)
20	g.49906067G>T	CA408947819	SPATA2	c.1115C>A (p.Ser372Ter)	gnomAD v4
20	g.49906068A>C	CA408947825	SPATA2	c.1114T>G (p.Ser372Ala)
20	g.49906068A>G	CA408947822	SPATA2	c.1114T>C (p.Ser372Pro)
20	g.49906068A>T	CA408947820	SPATA2	c.1114T>A (p.Ser372Thr)
20	g.49906069G>A	CA511018176	SPATA2	c.1113C>T (p.Arg371=)
20	g.49906069G>C	CA511018177	SPATA2	c.1113C>G (p.Arg371=)
20	g.49906069G>T	CA511018178	SPATA2	c.1113C>A (p.Arg371=)
20	g.49906070C>A	CA408947826	SPATA2	c.1112G>T (p.Arg371Leu)	gnomAD v4
20	g.49906070C=	CA2368281423	SPATA2	c.1112G= (p.Arg371=)
20	g.49906070C>G	CA408947827	SPATA2	c.1112G>C (p.Arg371Pro)	gnomAD v4
20	g.49906070C>T	CA9904897	SPATA2	c.1112G>A (p.Arg371His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49906071G>A	CA9904898	SPATA2	c.1111C>T (p.Arg371Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20	g.49906071G>C	CA408947830	SPATA2	c.1111C>G (p.Arg371Gly)
20	g.49906071G=	CA2368281424	SPATA2	c.1111C= (p.Arg371=)
20	g.49906071G>T	CA408947832	SPATA2	c.1111C>A (p.Arg371Ser)	gnomAD v4
20	g.49906072C>A	CA408947834	SPATA2	c.1110G>T (p.Lys370Asn)
20	g.49906072C>G	CA408947835	SPATA2	c.1110G>C (p.Lys370Asn)
20	g.49906072C>T	CA511018181	SPATA2	c.1110G>A (p.Lys370=)
20	g.49906073T>A	CA408947837	SPATA2	c.1109A>T (p.Lys370Met)
20	g.49906073T>C	CA408947839	SPATA2	c.1109A>G (p.Lys370Arg)	gnomAD v4
20	g.49906073T>G	CA408947842	SPATA2	c.1109A>C (p.Lys370Thr)
20	g.49906074T>A	CA408947844	SPATA2	c.1108A>T (p.Lys370Ter)
20	g.49906074T>C	CA408947845	SPATA2	c.1108A>G (p.Lys370Glu)
20	g.49906074T>G	CA408947848	SPATA2	c.1108A>C (p.Lys370Gln)	gnomAD v4
20	g.49906075G>A	CA511018185	SPATA2	c.1107C>T (p.His369=)
20	g.49906075G>C	CA408947850	SPATA2	c.1107C>G (p.His369Gln)
20	g.49906075G>T	CA408947853	SPATA2	c.1107C>A (p.His369Gln)	gnomAD v4
20	g.49906076T>A	CA408947860	SPATA2	c.1106A>T (p.His369Leu)
20	g.49906076T>C	CA408947856	SPATA2	c.1106A>G (p.His369Arg)
20	g.49906076T>G	CA408947858	SPATA2	c.1106A>C (p.His369Pro)
20	g.49906077G>A	CA408947866	SPATA2	c.1105C>T (p.His369Tyr)	gnomAD v4
20	g.49906077G>C	CA408947870	SPATA2	c.1105C>G (p.His369Asp)
20	g.49906077G>T	CA408947873	SPATA2	c.1105C>A (p.His369Asn)
20	g.49906078G>A	CA511018189	SPATA2	c.1104C>T (p.Tyr368=)	dbSNP gnomAD v3 gnomAD v4
20	g.49906078G>C	CA408947875	SPATA2	c.1104C>G (p.Tyr368Ter)
20	g.49906078G=	CA2368281425	SPATA2	c.1104C= (p.Tyr368=)
20	g.49906078G>T	CA408947878	SPATA2	c.1104C>A (p.Tyr368Ter)
20	g.49906079T>A	CA408947885	SPATA2	c.1103A>T (p.Tyr368Phe)	gnomAD v4
20	g.49906079T>C	CA9904899	SPATA2	c.1103A>G (p.Tyr368Cys)	dbSNP ExAC gnomAD v2
20	g.49906079T>G	CA408947890	SPATA2	c.1103A>C (p.Tyr368Ser)
20	g.49906079T=	CA2368281426	SPATA2	c.1103A= (p.Tyr368=)
20	g.49906080A>C	CA408947896	SPATA2	c.1102T>G (p.Tyr368Asp)
20	g.49906080A>G	CA408947900	SPATA2	c.1102T>C (p.Tyr368His)
20	g.49906080A>T	CA408947904	SPATA2	c.1102T>A (p.Tyr368Asn)
20	g.49906081G>A	CA511018190	SPATA2	c.1101C>T (p.Leu367=)
20	g.49906081G>C	CA511018193	SPATA2	c.1101C>G (p.Leu367=)	dbSNP
20	g.49906081G=	CA2368281427	SPATA2	c.1101C= (p.Leu367=)
20	g.49906081G>T	CA511018192	SPATA2	c.1101C>A (p.Leu367=)	dbSNP gnomAD v4
20	g.49906082A>C	CA408947920	SPATA2	c.1100T>G (p.Leu367Arg)
20	g.49906082A>G	CA408947916	SPATA2	c.1100T>C (p.Leu367Pro)
20	g.49906082A>T	CA408947912	SPATA2	c.1100T>A (p.Leu367His)
20	g.49906083G>A	CA408947921	SPATA2	c.1099C>T (p.Leu367Phe)
20	g.49906083G>C	CA9904900	SPATA2	c.1099C>G (p.Leu367Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49906083G=	CA2368281428	SPATA2	c.1099C= (p.Leu367=)
20	g.49906083G>T	CA408947923	SPATA2	c.1099C>A (p.Leu367Ile)	gnomAD v4
20	g.49906084G>A	CA511018194	SPATA2	c.1098C>T (p.Ser366=)	gnomAD v4
20	g.49906084G>C	CA511018195	SPATA2	c.1098C>G (p.Ser366=)
20	g.49906084G>T	CA511018196	SPATA2	c.1098C>A (p.Ser366=)	gnomAD v4
20	g.49906085G>A	CA408947934	SPATA2	c.1097C>T (p.Ser366Phe)	dbSNP gnomAD v2 gnomAD v4
20	g.49906085G>C	CA408947938	SPATA2	c.1097C>G (p.Ser366Cys)
20	g.49906085G=	CA2368281429	SPATA2	c.1097C= (p.Ser366=)
20	g.49906085G>T	CA408947941	SPATA2	c.1097C>A (p.Ser366Tyr)	gnomAD v4
20	g.49906086A>C	CA408947952	SPATA2	c.1096T>G (p.Ser366Ala)
20	g.49906086A>G	CA408947947	SPATA2	c.1096T>C (p.Ser366Pro)	gnomAD v3 gnomAD v4
20	g.49906086A>T	CA408947951	SPATA2	c.1096T>A (p.Ser366Thr)
20	g.49906087G>A	CA511018198	SPATA2	c.1095C>T (p.His365=)
20	g.49906087G>C	CA408947955	SPATA2	c.1095C>G (p.His365Gln)
20	g.49906087G=	CA2368281430	SPATA2	c.1095C= (p.His365=)
20	g.49906087G>T	CA9904901	SPATA2	c.1095C>A (p.His365Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49906088T>A	CA408947962	SPATA2	c.1094A>T (p.His365Leu)
20	g.49906088T>C	CA9904902	SPATA2	c.1094A>G (p.His365Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49906088T>G	CA408947967	SPATA2	c.1094A>C (p.His365Pro)
20	g.49906088T=	CA2368281431	SPATA2	c.1094A= (p.His365=)
20	g.49906089G>A	CA408947970	SPATA2	c.1093C>T (p.His365Tyr)	gnomAD v4
20	g.49906089G>C	CA408947974	SPATA2	c.1093C>G (p.His365Asp)
20	g.49906089G>T	CA408947972	SPATA2	c.1093C>A (p.His365Asn)	gnomAD v4
20	g.49906090G>A	CA511018202	SPATA2	c.1092C>T (p.Ala364=)	gnomAD v4
20	g.49906090G>C	CA511018203	SPATA2	c.1092C>G (p.Ala364=)
20	g.49906090G>T	CA511018204	SPATA2	c.1092C>A (p.Ala364=)	gnomAD v4
20	g.49906091G>A	CA408947978	SPATA2	c.1091C>T (p.Ala364Val)	dbSNP gnomAD v2 gnomAD v4
20	g.49906091G>C	CA408947982	SPATA2	c.1091C>G (p.Ala364Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.49906091G=	CA2368281432	SPATA2	c.1091C= (p.Ala364=)
20	g.49906091G>T	CA408947984	SPATA2	c.1091C>A (p.Ala364Asp)

Number of alleles fetched