Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
20	g.49905923_49905988dup	CA2653280001	SPATA2	c.1204_1269dup (p.Leu423_Ala424insLeuThrCysProProAlaSerLysProSerAlaPheProSerLysAlaSerThrHisAspSerLeu)	gnomAD v4
20	g.49905936_49905948delinsTGCTGGGGAAGGC	CA2368281360	SPATA2	c.1234_1246delinsGCCTTCCCCAGCA (p.Ala412=)
20	g.49905943_49905954del	CA2368281361	SPATA2	c.1234_1245del (p.Ala412_Ser415del)	dbSNP
20	g.49905947G>A	CA408946869	SPATA2	c.1235C>T (p.Ala412Val)	dbSNP gnomAD v2
20	g.49905947G>C	CA408946872	SPATA2	c.1235C>G (p.Ala412Gly)
20	g.49905947G=	CA2368281369	SPATA2	c.1235C= (p.Ala412=)
20	g.49905947G>T	CA408946875	SPATA2	c.1235C>A (p.Ala412Asp)	gnomAD v4
20	g.49905948C>A	CA408946879	SPATA2	c.1234G>T (p.Ala412Ser)
20	g.49905948C=	CA2368281370	SPATA2	c.1234G= (p.Ala412=)
20	g.49905948C>G	CA408946883	SPATA2	c.1234G>C (p.Ala412Pro)
20	g.49905948C>T	CA9904871	SPATA2	c.1234G>A (p.Ala412Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49905949G>A	CA511018381	SPATA2	c.1233C>T (p.Ser411=)	dbSNP gnomAD v3 gnomAD v4
20	g.49905949G>C	CA408946890	SPATA2	c.1233C>G (p.Ser411Arg)
20	g.49905949G=	CA2368281371	SPATA2	c.1233C= (p.Ser411=)
20	g.49905949G>T	CA408946886	SPATA2	c.1233C>A (p.Ser411Arg)	gnomAD v4
20	g.49905950C>A	CA408946893	SPATA2	c.1232G>T (p.Ser411Ile)
20	g.49905950C=	CA2368281372	SPATA2	c.1232G= (p.Ser411=)
20	g.49905950C>G	CA9904872	SPATA2	c.1232G>C (p.Ser411Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49905950C>T	CA408946897	SPATA2	c.1232G>A (p.Ser411Asn)
20	g.49905951T>A	CA315122005	SPATA2	c.1231A>T (p.Ser411Cys)	dbSNP
20	g.49905951T>C	CA408946903	SPATA2	c.1231A>G (p.Ser411Gly)	dbSNP gnomAD v2 gnomAD v4
20	g.49905951T>G	CA408946906	SPATA2	c.1231A>C (p.Ser411Arg)
20	g.49905951T=	CA2368281373	SPATA2	c.1231A= (p.Ser411=)
20	g.49905952G>A	CA511018382	SPATA2	c.1230C>T (p.Pro410=)	dbSNP gnomAD v2 gnomAD v4
20	g.49905952G>C	CA511018383	SPATA2	c.1230C>G (p.Pro410=)
20	g.49905952G=	CA2368281374	SPATA2	c.1230C= (p.Pro410=)
20	g.49905952G>T	CA511018384	SPATA2	c.1230C>A (p.Pro410=)	gnomAD v4
20	g.49905954del	CA2653280036	SPATA2	c.1230del (p.Ser411AlafsTer?)	gnomAD v4
20	g.49905953G>A	CA408946910	SPATA2	c.1229C>T (p.Pro410Leu)	gnomAD v4 COSMIC
20	g.49905953G>C	CA408946907	SPATA2	c.1229C>G (p.Pro410Arg)
20	g.49905953G>T	CA408946908	SPATA2	c.1229C>A (p.Pro410His)
20	g.49905954G>A	CA408946914	SPATA2	c.1228C>T (p.Pro410Ser)	gnomAD v4
20	g.49905954G>C	CA408946920	SPATA2	c.1228C>G (p.Pro410Ala)
20	g.49905954G>T	CA408946923	SPATA2	c.1228C>A (p.Pro410Thr)	gnomAD v4
20	g.49905955C>A	CA408946926	SPATA2	c.1227G>T (p.Lys409Asn)	gnomAD v4
20	g.49905955C>G	CA408946927	SPATA2	c.1227G>C (p.Lys409Asn)
20	g.49905955C>T	CA511018057	SPATA2	c.1227G>A (p.Lys409=)
20	g.49905956T>A	CA408946928	SPATA2	c.1226A>T (p.Lys409Met)
20	g.49905956T>C	CA408946930	SPATA2	c.1226A>G (p.Lys409Arg)
20	g.49905956T>G	CA408946933	SPATA2	c.1226A>C (p.Lys409Thr)
20	g.49905957T>A	CA408946936	SPATA2	c.1225A>T (p.Lys409Ter)
20	g.49905957T>C	CA408946940	SPATA2	c.1225A>G (p.Lys409Glu)
20	g.49905957T>G	CA408946941	SPATA2	c.1225A>C (p.Lys409Gln)
20	g.49905958G>A	CA511018058	SPATA2	c.1224C>T (p.Ser408=)	gnomAD v4
20	g.49905958G>C	CA9904873	SPATA2	c.1224C>G (p.Ser408=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.49905958G=	CA2368281375	SPATA2	c.1224C= (p.Ser408=)
20	g.49905958G>T	CA511018059	SPATA2	c.1224C>A (p.Ser408=)
20	g.49905959G>A	CA408946943	SPATA2	c.1223C>T (p.Ser408Phe)
20	g.49905959G>C	CA408946950	SPATA2	c.1223C>G (p.Ser408Cys)	dbSNP
20	g.49905959G=	CA2368281376	SPATA2	c.1223C= (p.Ser408=)
20	g.49905959G>T	CA408946946	SPATA2	c.1223C>A (p.Ser408Tyr)	gnomAD v4
20	g.49905960A>C	CA408946952	SPATA2	c.1222T>G (p.Ser408Ala)
20	g.49905960A>G	CA408946971	SPATA2	c.1222T>C (p.Ser408Pro)
20	g.49905960A>T	CA408946966	SPATA2	c.1222T>A (p.Ser408Thr)
20	g.49905961A>C	CA511018060	SPATA2	c.1221T>G (p.Ala407=)	gnomAD v4
20	g.49905961A>G	CA511018061	SPATA2	c.1221T>C (p.Ala407=)
20	g.49905961A>T	CA511018062	SPATA2	c.1221T>A (p.Ala407=)
20	g.49905962G>A	CA408946976	SPATA2	c.1220C>T (p.Ala407Val)
20	g.49905962G>C	CA408946981	SPATA2	c.1220C>G (p.Ala407Gly)
20	g.49905962G>T	CA408946984	SPATA2	c.1220C>A (p.Ala407Asp)	gnomAD v4
20	g.49905963C>A	CA408946986	SPATA2	c.1219G>T (p.Ala407Ser)	gnomAD v4
20	g.49905963C=	CA2368281377	SPATA2	c.1219G= (p.Ala407=)
20	g.49905963C>G	CA408946988	SPATA2	c.1219G>C (p.Ala407Pro)
20	g.49905963C>T	CA408947002	SPATA2	c.1219G>A (p.Ala407Thr)	dbSNP gnomAD v2 gnomAD v4
20	g.49905964T>A	CA511018063	SPATA2	c.1218A>T (p.Pro406=)
20	g.49905964T>C	CA511018064	SPATA2	c.1218A>G (p.Pro406=)	dbSNP gnomAD v4
20	g.49905964T>G	CA511018065	SPATA2	c.1218A>C (p.Pro406=)
20	g.49905964T=	CA2368281378	SPATA2	c.1218A= (p.Pro406=)
20	g.49905965G>A	CA408947006	SPATA2	c.1217C>T (p.Pro406Leu)
20	g.49905965G>C	CA408947009	SPATA2	c.1217C>G (p.Pro406Arg)
20	g.49905965G>T	CA408947010	SPATA2	c.1217C>A (p.Pro406Gln)	gnomAD v4
20	g.49905966G>A	CA408947016	SPATA2	c.1216C>T (p.Pro406Ser)	gnomAD v4
20	g.49905966G>C	CA408947019	SPATA2	c.1216C>G (p.Pro406Ala)	gnomAD v4
20	g.49905966G>T	CA408947025	SPATA2	c.1216C>A (p.Pro406Thr)	gnomAD v4
20	g.49905967A=	CA2368281379	SPATA2	c.1215T= (p.Pro405=)
20	g.49905967A>C	CA511018066	SPATA2	c.1215T>G (p.Pro405=)
20	g.49905967A>G	CA511018067	SPATA2	c.1215T>C (p.Pro405=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.49905967A>T	CA511018068	SPATA2	c.1215T>A (p.Pro405=)
20	g.49905968G>A	CA9904874	SPATA2	c.1214C>T (p.Pro405Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.49905968G>C	CA408947032	SPATA2	c.1214C>G (p.Pro405Arg)
20	g.49905968G=	CA2368281380	SPATA2	c.1214C= (p.Pro405=)
20	g.49905968G>T	CA408947036	SPATA2	c.1214C>A (p.Pro405His)	gnomAD v4
20	g.49905969G>A	CA408947042	SPATA2	c.1213C>T (p.Pro405Ser)
20	g.49905969G>C	CA408947044	SPATA2	c.1213C>G (p.Pro405Ala)
20	g.49905969G>T	CA408947046	SPATA2	c.1213C>A (p.Pro405Thr)
20	g.49905970A>C	CA408947048	SPATA2	c.1212T>G (p.Cys404Trp)
20	g.49905970A>G	CA511018069	SPATA2	c.1212T>C (p.Cys404=)
20	g.49905970A>T	CA408947051	SPATA2	c.1212T>A (p.Cys404Ter)
20	g.49905971C>A	CA408947052	SPATA2	c.1211G>T (p.Cys404Phe)
20	g.49905971C=	CA2368281381	SPATA2	c.1211G= (p.Cys404=)
20	g.49905971C>G	CA408947053	SPATA2	c.1211G>C (p.Cys404Ser)
20	g.49905971C>T	CA408947055	SPATA2	c.1211G>A (p.Cys404Tyr)	dbSNP gnomAD v4
20	g.49905972A=	CA2368281382	SPATA2	c.1210T= (p.Cys404=)
20	g.49905972A>C	CA408947059	SPATA2	c.1210T>G (p.Cys404Gly)
20	g.49905972A>G	CA408947062	SPATA2	c.1210T>C (p.Cys404Arg)	dbSNP
20	g.49905972A>T	CA408947065	SPATA2	c.1210T>A (p.Cys404Ser)
20	g.49905973G>A	CA315122014	SPATA2	c.1209C>T (p.Thr403=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.49905973G>C	CA511018070	SPATA2	c.1209C>G (p.Thr403=)
20	g.49905973G=	CA2368281383	SPATA2	c.1209C= (p.Thr403=)
20	g.49905973G>T	CA511018071	SPATA2	c.1209C>A (p.Thr403=)	dbSNP COSMIC
20	g.49905974G>A	CA408947071	SPATA2	c.1208C>T (p.Thr403Ile)
20	g.49905974G>C	CA408947070	SPATA2	c.1208C>G (p.Thr403Ser)
20	g.49905974G>T	CA408947069	SPATA2	c.1208C>A (p.Thr403Asn)	gnomAD v4
20	g.49905975T>A	CA408947075	SPATA2	c.1207A>T (p.Thr403Ser)
20	g.49905975T>C	CA408947084	SPATA2	c.1207A>G (p.Thr403Ala)
20	g.49905975T>G	CA408947087	SPATA2	c.1207A>C (p.Thr403Pro)	dbSNP gnomAD v4
20	g.49905975T=	CA2368281384	SPATA2	c.1207A= (p.Thr403=)
20	g.49905976G>A	CA511018072	SPATA2	c.1206C>T (p.Leu402=)	gnomAD v4
20	g.49905976G>C	CA511018073	SPATA2	c.1206C>G (p.Leu402=)
20	g.49905976G>T	CA511018074	SPATA2	c.1206C>A (p.Leu402=)
20	g.49905977A>C	CA408947092	SPATA2	c.1205T>G (p.Leu402Arg)
20	g.49905977A>G	CA408947095	SPATA2	c.1205T>C (p.Leu402Pro)
20	g.49905977A>T	CA408947100	SPATA2	c.1205T>A (p.Leu402His)	gnomAD v3 gnomAD v4
20	g.49905978G>A	CA408947106	SPATA2	c.1204C>T (p.Leu402Phe)	dbSNP gnomAD v2 gnomAD v4
20	g.49905978G>C	CA408947108	SPATA2	c.1204C>G (p.Leu402Val)
20	g.49905978G=	CA2368281385	SPATA2	c.1204C= (p.Leu402=)
20	g.49905978G>T	CA408947110	SPATA2	c.1204C>A (p.Leu402Ile)	gnomAD v4
20	g.49905979C>A	CA511018076	SPATA2	c.1203G>T (p.Leu401=)	gnomAD v4
20	g.49905979C>G	CA511018077	SPATA2	c.1203G>C (p.Leu401=)
20	g.49905979C>T	CA511018075	SPATA2	c.1203G>A (p.Leu401=)	gnomAD v4
20	g.49905980A>C	CA408947111	SPATA2	c.1202T>G (p.Leu401Arg)
20	g.49905980A>G	CA408947112	SPATA2	c.1202T>C (p.Leu401Pro)
20	g.49905980A>T	CA408947114	SPATA2	c.1202T>A (p.Leu401Gln)
20	g.49905981G>A	CA511018078	SPATA2	c.1201C>T (p.Leu401=)	gnomAD v4
20	g.49905981G>C	CA408947118	SPATA2	c.1201C>G (p.Leu401Val)
20	g.49905981G>T	CA408947128	SPATA2	c.1201C>A (p.Leu401Met)	gnomAD v4
20	g.49905982G>A	CA511018079	SPATA2	c.1200C>T (p.Ser400=)	gnomAD v4
20	g.49905982G>C	CA408947140	SPATA2	c.1200C>G (p.Ser400Arg)
20	g.49905982G>T	CA408947143	SPATA2	c.1200C>A (p.Ser400Arg)	gnomAD v4
20	g.49905983C>A	CA408947149	SPATA2	c.1199G>T (p.Ser400Ile)	gnomAD v4
20	g.49905983C=	CA2368281386	SPATA2	c.1199G= (p.Ser400=)
20	g.49905983C>G	CA408947151	SPATA2	c.1199G>C (p.Ser400Thr)
20	g.49905983C>T	CA408947160	SPATA2	c.1199G>A (p.Ser400Asn)	dbSNP gnomAD v2
20	g.49905984T>A	CA408947165	SPATA2	c.1198A>T (p.Ser400Cys)
20	g.49905984T>C	CA408947168	SPATA2	c.1198A>G (p.Ser400Gly)
20	g.49905984T>G	CA408947171	SPATA2	c.1198A>C (p.Ser400Arg)
20	g.49905985G>A	CA511018080	SPATA2	c.1197C>T (p.Asp399=)
20	g.49905985G>C	CA408947173	SPATA2	c.1197C>G (p.Asp399Glu)
20	g.49905985G>T	CA408947175	SPATA2	c.1197C>A (p.Asp399Glu)
20	g.49905986T>A	CA408947178	SPATA2	c.1196A>T (p.Asp399Val)
20	g.49905986T>C	CA408947179	SPATA2	c.1196A>G (p.Asp399Gly)
20	g.49905986T>G	CA408947180	SPATA2	c.1196A>C (p.Asp399Ala)
20	g.49905987C>A	CA408947183	SPATA2	c.1195G>T (p.Asp399Tyr)
20	g.49905987C>G	CA408947192	SPATA2	c.1195G>C (p.Asp399His)
20	g.49905987C>T	CA408947189	SPATA2	c.1195G>A (p.Asp399Asn)	gnomAD v4
20	g.49905988A>C	CA408947195	SPATA2	c.1194T>G (p.Cys398Trp)
20	g.49905988A>G	CA511018082	SPATA2	c.1194T>C (p.Cys398=)
20	g.49905988A>T	CA408947196	SPATA2	c.1194T>A (p.Cys398Ter)
20	g.49905989C>A	CA408947197	SPATA2	c.1193G>T (p.Cys398Phe)
20	g.49905989C>G	CA408947201	SPATA2	c.1193G>C (p.Cys398Ser)
20	g.49905989C>T	CA408947199	SPATA2	c.1193G>A (p.Cys398Tyr)	gnomAD v4 COSMIC
20	g.49905990A=	CA2368281387	SPATA2	c.1192T= (p.Cys398=)
20	g.49905990A>C	CA408947204	SPATA2	c.1192T>G (p.Cys398Gly)
20	g.49905990A>G	CA408947213	SPATA2	c.1192T>C (p.Cys398Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.49905990A>T	CA408947209	SPATA2	c.1192T>A (p.Cys398Ser)
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

Number of alleles fetched