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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 20 | g.49906092C>A | CA408947987 | SPATA2 | c.1090G>T (p.Ala364Ser) | |
| 20 | g.49906092C>G | CA408947990 | SPATA2 | c.1090G>C (p.Ala364Pro) | |
| 20 | g.49906092C>T | CA408947995 | SPATA2 | c.1090G>A (p.Ala364Thr) | |
| 20 | g.49906093A= | CA2368281433 | SPATA2 | c.1089T= (p.Asp363=) | |
| 20 | g.49906093A>C | CA408947997 | SPATA2 | c.1089T>G (p.Asp363Glu) | gnomAD v4 |
| 20 | g.49906093A>G | CA511018205 | SPATA2 | c.1089T>C (p.Asp363=) | |
| 20 | g.49906093A>T | CA315122115 | SPATA2 | c.1089T>A (p.Asp363Glu) | dbSNP |
| 20 | g.49906094T>A | CA408948000 | SPATA2 | c.1088A>T (p.Asp363Val) | gnomAD v4 |
| 20 | g.49906094T>C | CA408948001 | SPATA2 | c.1088A>G (p.Asp363Gly) | |
| 20 | g.49906094T>G | CA408948004 | SPATA2 | c.1088A>C (p.Asp363Ala) | |
| 20 | g.49906095C>A | CA408948008 | SPATA2 | c.1087G>T (p.Asp363Tyr) | gnomAD v4 |
| 20 | g.49906095C= | CA2368281434 | SPATA2 | c.1087G= (p.Asp363=) | |
| 20 | g.49906095C>G | CA408948011 | SPATA2 | c.1087G>C (p.Asp363His) | |
| 20 | g.49906095C>T | CA9904903 | SPATA2 | c.1087G>A (p.Asp363Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49906096G>A | CA9904904 | SPATA2 | c.1086C>T (p.Asn362=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49906096G>C | CA408948025 | SPATA2 | c.1086C>G (p.Asn362Lys) | |
| 20 | g.49906096G= | CA2368281435 | SPATA2 | c.1086C= (p.Asn362=) | |
| 20 | g.49906096G>T | CA408948019 | SPATA2 | c.1086C>A (p.Asn362Lys) | dbSNP gnomAD v4 |
| 20 | g.49906097T>A | CA408948033 | SPATA2 | c.1085A>T (p.Asn362Ile) | |
| 20 | g.49906097T>C | CA408948041 | SPATA2 | c.1085A>G (p.Asn362Ser) | |
| 20 | g.49906097T>G | CA9904905 | SPATA2 | c.1085A>C (p.Asn362Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49906097T= | CA2368281436 | SPATA2 | c.1085A= (p.Asn362=) | |
| 20 | g.49906098T>A | CA408948046 | SPATA2 | c.1084A>T (p.Asn362Tyr) | |
| 20 | g.49906098T>C | CA408948055 | SPATA2 | c.1084A>G (p.Asn362Asp) | |
| 20 | g.49906098T>G | CA408948049 | SPATA2 | c.1084A>C (p.Asn362His) | |
| 20 | g.49906099T>A | CA408948063 | SPATA2 | c.1083A>T (p.Arg361Ser) | |
| 20 | g.49906099T>C | CA511018211 | SPATA2 | c.1083A>G (p.Arg361=) | |
| 20 | g.49906099T>G | CA408948065 | SPATA2 | c.1083A>C (p.Arg361Ser) | |
| 20 | g.49906100C>A | CA408948070 | SPATA2 | c.1082G>T (p.Arg361Ile) | |
| 20 | g.49906100C>G | CA408948073 | SPATA2 | c.1082G>C (p.Arg361Thr) | |
| 20 | g.49906100C>T | CA408948076 | SPATA2 | c.1082G>A (p.Arg361Lys) | |
| 20 | g.49906101T>A | CA408948083 | SPATA2 | c.1081A>T (p.Arg361Ter) | |
| 20 | g.49906101T>C | CA408948087 | SPATA2 | c.1081A>G (p.Arg361Gly) | gnomAD v4 |
| 20 | g.49906101T>G | CA511018215 | SPATA2 | c.1081A>C (p.Arg361=) | |
| 20 | g.49906102G>A | CA9904906 | SPATA2 | c.1080C>T (p.Leu360=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49906102G>C | CA511018216 | SPATA2 | c.1080C>G (p.Leu360=) | |
| 20 | g.49906102G= | CA2368281437 | SPATA2 | c.1080C= (p.Leu360=) | |
| 20 | g.49906102G>T | CA511018217 | SPATA2 | c.1080C>A (p.Leu360=) | |
| 20 | g.49906103A>C | CA408948088 | SPATA2 | c.1079T>G (p.Leu360Arg) | |
| 20 | g.49906103A>G | CA408948091 | SPATA2 | c.1079T>C (p.Leu360Pro) | |
| 20 | g.49906103A>T | CA408948100 | SPATA2 | c.1079T>A (p.Leu360His) | |
| 20 | g.49906104G>A | CA9904907 | SPATA2 | c.1078C>T (p.Leu360Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49906104G>C | CA408948109 | SPATA2 | c.1078C>G (p.Leu360Val) | |
| 20 | g.49906104G= | CA2368281438 | SPATA2 | c.1078C= (p.Leu360=) | |
| 20 | g.49906104G>T | CA408948113 | SPATA2 | c.1078C>A (p.Leu360Ile) | |
| 20 | g.49906105C>A | CA511018221 | SPATA2 | c.1077G>T (p.Leu359=) | |
| 20 | g.49906105C>G | CA511018222 | SPATA2 | c.1077G>C (p.Leu359=) | |
| 20 | g.49906105C>T | CA511018223 | SPATA2 | c.1077G>A (p.Leu359=) | |
| 20 | g.49906106A>C | CA408948119 | SPATA2 | c.1076T>G (p.Leu359Arg) | |
| 20 | g.49906106A>G | CA408948123 | SPATA2 | c.1076T>C (p.Leu359Pro) | |
| 20 | g.49906106A>T | CA408948132 | SPATA2 | c.1076T>A (p.Leu359Gln) | |
| 20 | g.49906107G>A | CA511018225 | SPATA2 | c.1075C>T (p.Leu359=) | |
| 20 | g.49906107G>C | CA408948135 | SPATA2 | c.1075C>G (p.Leu359Val) | |
| 20 | g.49906107G>T | CA408948139 | SPATA2 | c.1075C>A (p.Leu359Met) | gnomAD v4 |
| 20 | g.49906108C>A | CA408948145 | SPATA2 | c.1074G>T (p.Trp358Cys) | |
| 20 | g.49906108C= | CA2368281439 | SPATA2 | c.1074G= (p.Trp358=) | |
| 20 | g.49906108C>G | CA408948153 | SPATA2 | c.1074G>C (p.Trp358Cys) | |
| 20 | g.49906108C>T | CA408948157 | SPATA2 | c.1074G>A (p.Trp358Ter) | dbSNP |
| 20 | g.49906109C>A | CA408948161 | SPATA2 | c.1073G>T (p.Trp358Leu) | |
| 20 | g.49906109C>G | CA408948165 | SPATA2 | c.1073G>C (p.Trp358Ser) | |
| 20 | g.49906109C>T | CA408948168 | SPATA2 | c.1073G>A (p.Trp358Ter) | |
| 20 | g.49906110A>C | CA408948180 | SPATA2 | c.1072T>G (p.Trp358Gly) | |
| 20 | g.49906110A>G | CA408948175 | SPATA2 | c.1072T>C (p.Trp358Arg) | gnomAD v4 |
| 20 | g.49906110A>T | CA408948172 | SPATA2 | c.1072T>A (p.Trp358Arg) | |
| 20 | g.49906111C>A | CA511018231 | SPATA2 | c.1071G>T (p.Val357=) | |
| 20 | g.49906111C= | CA2368281440 | SPATA2 | c.1071G= (p.Val357=) | |
| 20 | g.49906111C>G | CA511018230 | SPATA2 | c.1071G>C (p.Val357=) | |
| 20 | g.49906111C>T | CA511018229 | SPATA2 | c.1071G>A (p.Val357=) | dbSNP gnomAD v4 |
| 20 | g.49906112A>C | CA408948197 | SPATA2 | c.1070T>G (p.Val357Gly) | |
| 20 | g.49906112A>G | CA408948184 | SPATA2 | c.1070T>C (p.Val357Ala) | |
| 20 | g.49906112A>T | CA408948188 | SPATA2 | c.1070T>A (p.Val357Glu) | |
| 20 | g.49906113C>A | CA408948200 | SPATA2 | c.1069G>T (p.Val357Leu) | |
| 20 | g.49906113C= | CA2368281441 | SPATA2 | c.1069G= (p.Val357=) | |
| 20 | g.49906113C>G | CA9904908 | SPATA2 | c.1069G>C (p.Val357Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49906113C>T | CA408948206 | SPATA2 | c.1069G>A (p.Val357Met) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49906114A>C | CA408948211 | SPATA2 | c.1068T>G (p.Asp356Glu) | |
| 20 | g.49906114A>G | CA511018234 | SPATA2 | c.1068T>C (p.Asp356=) | gnomAD v4 |
| 20 | g.49906114A>T | CA408948212 | SPATA2 | c.1068T>A (p.Asp356Glu) | |
| 20 | g.49906115T>A | CA408948214 | SPATA2 | c.1067A>T (p.Asp356Val) | |
| 20 | g.49906115T>C | CA408948224 | SPATA2 | c.1067A>G (p.Asp356Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49906115T>G | CA408948221 | SPATA2 | c.1067A>C (p.Asp356Ala) | gnomAD v4 |
| 20 | g.49906115T= | CA2368281442 | SPATA2 | c.1067A= (p.Asp356=) | |
| 20 | g.49906116C>A | CA408948229 | SPATA2 | c.1066G>T (p.Asp356Tyr) | |
| 20 | g.49906116C>G | CA408948236 | SPATA2 | c.1066G>C (p.Asp356His) | |
| 20 | g.49906116C>T | CA408948239 | SPATA2 | c.1066G>A (p.Asp356Asn) | |
| 20 | g.49906117C>A | CA511018238 | SPATA2 | c.1065G>T (p.Pro355=) | |
| 20 | g.49906117C= | CA2368281443 | SPATA2 | c.1065G= (p.Pro355=) | |
| 20 | g.49906117C>G | CA511018239 | SPATA2 | c.1065G>C (p.Pro355=) | |
| 20 | g.49906117C>T | CA9904909 | SPATA2 | c.1065G>A (p.Pro355=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.49906118G>A | CA9904910 | SPATA2 | c.1064C>T (p.Pro355Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49906118G>C | CA408948243 | SPATA2 | c.1064C>G (p.Pro355Arg) | |
| 20 | g.49906118G= | CA2368281444 | SPATA2 | c.1064C= (p.Pro355=) | |
| 20 | g.49906118G>T | CA408948242 | SPATA2 | c.1064C>A (p.Pro355Gln) | gnomAD v4 |
| 20 | g.49906118_49906133delinsGGCCGCAGAGCATCCT | CA2368281445 | SPATA2 | c.1049_1064delinsAGGATGCTCTGCGGCC (p.Gln350=) | |
| 20 | g.49906119G>A | CA408948248 | SPATA2 | c.1063C>T (p.Pro355Ser) | |
| 20 | g.49906119G>C | CA408948251 | SPATA2 | c.1063C>G (p.Pro355Ala) | |
| 20 | g.49906119G>T | CA408948253 | SPATA2 | c.1063C>A (p.Pro355Thr) | gnomAD v4 |
| 20 | g.49906123_49906137del | CA2368281446 | SPATA2 | c.1049_1063del (p.Gln350_Arg354del) | dbSNP gnomAD v4 |
| 20 | g.49906120C>A | CA511018241 | SPATA2 | c.1062G>T (p.Arg354=) | |
| 20 | g.49906120C>G | CA511018242 | SPATA2 | c.1062G>C (p.Arg354=) | |
| 20 | g.49906120C>T | CA511018243 | SPATA2 | c.1062G>A (p.Arg354=) | gnomAD v4 |
| 20 | g.49906121C>A | CA408948257 | SPATA2 | c.1061G>T (p.Arg354Leu) | |
| 20 | g.49906121C= | CA2368281447 | SPATA2 | c.1061G= (p.Arg354=) | |
| 20 | g.49906121C>G | CA408948261 | SPATA2 | c.1061G>C (p.Arg354Pro) | |
| 20 | g.49906121C>T | CA9904911 | SPATA2 | c.1061G>A (p.Arg354Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49906122G>A | CA9904912 | SPATA2 | c.1060C>T (p.Arg354Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49906122G>C | CA9904913 | SPATA2 | c.1060C>G (p.Arg354Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49906122G= | CA2368281448 | SPATA2 | c.1060C= (p.Arg354=) | |
| 20 | g.49906122G>T | CA511018247 | SPATA2 | c.1060C>A (p.Arg354=) | gnomAD v4 |
| 20 | g.49906123C>A | CA511018248 | SPATA2 | c.1059G>T (p.Leu353=) | |
| 20 | g.49906123C>G | CA511018249 | SPATA2 | c.1059G>C (p.Leu353=) | |
| 20 | g.49906123C>T | CA511018250 | SPATA2 | c.1059G>A (p.Leu353=) | gnomAD v4 |
| 20 | g.49906124A>C | CA408948278 | SPATA2 | c.1058T>G (p.Leu353Arg) | |
| 20 | g.49906124A>G | CA408948280 | SPATA2 | c.1058T>C (p.Leu353Pro) | |
| 20 | g.49906124A>T | CA408948282 | SPATA2 | c.1058T>A (p.Leu353Gln) | |
| 20 | g.49906125G>A | CA9904914 | SPATA2 | c.1057C>T (p.Leu353=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.49906125G>C | CA408948286 | SPATA2 | c.1057C>G (p.Leu353Val) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49906125G= | CA2368281449 | SPATA2 | c.1057C= (p.Leu353=) | |
| 20 | g.49906125G>T | CA408948284 | SPATA2 | c.1057C>A (p.Leu353Met) | |
| 20 | g.49906126A= | CA2368281450 | SPATA2 | c.1056T= (p.Ala352=) | |
| 20 | g.49906126A>C | CA511018252 | SPATA2 | c.1056T>G (p.Ala352=) | |
| 20 | g.49906126A>G | CA511018253 | SPATA2 | c.1056T>C (p.Ala352=) | dbSNP |
| 20 | g.49906126A>T | CA511018254 | SPATA2 | c.1056T>A (p.Ala352=) | |
| 20 | g.49906127G>A | CA408948296 | SPATA2 | c.1055C>T (p.Ala352Val) | |
| 20 | g.49906127G>C | CA408948303 | SPATA2 | c.1055C>G (p.Ala352Gly) | |
| 20 | g.49906127G>T | CA408948300 | SPATA2 | c.1055C>A (p.Ala352Asp) | gnomAD v4 |
| 20 | g.49906128C>A | CA408948305 | SPATA2 | c.1054G>T (p.Ala352Ser) | |
| 20 | g.49906128C>G | CA408948308 | SPATA2 | c.1054G>C (p.Ala352Pro) | |
| 20 | g.49906128C>T | CA408948318 | SPATA2 | c.1054G>A (p.Ala352Thr) | |
| 20 | g.49906129A= | CA2368281451 | SPATA2 | c.1053T= (p.Asp351=) | |
| 20 | g.49906129A>C | CA408948324 | SPATA2 | c.1053T>G (p.Asp351Glu) | |
| 20 | g.49906129A>G | CA315122156 | SPATA2 | c.1053T>C (p.Asp351=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49906129A>T | CA408948328 | SPATA2 | c.1053T>A (p.Asp351Glu) | |
| 20 | g.49906130T>A | CA408948331 | SPATA2 | c.1052A>T (p.Asp351Val) | |
| 20 | g.49906130T>C | CA408948332 | SPATA2 | c.1052A>G (p.Asp351Gly) | dbSNP gnomAD v4 |
| 20 | g.49906130T>G | CA408948333 | SPATA2 | c.1052A>C (p.Asp351Ala) | |
| 20 | g.49906130T= | CA2368281452 | SPATA2 | c.1052A= (p.Asp351=) | |
| 20 | g.49906131C>A | CA408948343 | SPATA2 | c.1051G>T (p.Asp351Tyr) | |
| 20 | g.49906131C>G | CA408948345 | SPATA2 | c.1051G>C (p.Asp351His) | |
| 20 | g.49906131C>T | CA408948350 | SPATA2 | c.1051G>A (p.Asp351Asn) | |
| 20 | g.49906132C>A | CA408948360 | SPATA2 | c.1050G>T (p.Gln350His) | |
| 20 | g.49906132C>G | CA408948358 | SPATA2 | c.1050G>C (p.Gln350His) | |
| 20 | g.49906132C>T | CA511018259 | SPATA2 | c.1050G>A (p.Gln350=) | |
| 20 | g.49906133T>A | CA408948367 | SPATA2 | c.1049A>T (p.Gln350Leu) | |
| 20 | g.49906133T>C | CA408948368 | SPATA2 | c.1049A>G (p.Gln350Arg) | |
| 20 | g.49906133T>G | CA408948369 | SPATA2 | c.1049A>C (p.Gln350Pro) | gnomAD v4 |
| 20 | g.49906134G>A | CA408948371 | SPATA2 | c.1048C>T (p.Gln350Ter) | dbSNP |
| 20 | g.49906134G>C | CA408948373 | SPATA2 | c.1048C>G (p.Gln350Glu) | |
| 20 | g.49906134G= | CA2368281453 | SPATA2 | c.1048C= (p.Gln350=) | |
| 20 | g.49906134G>T | CA408948377 | SPATA2 | c.1048C>A (p.Gln350Lys) | |
| 20 | g.49906135C>A | CA511018262 | SPATA2 | c.1047G>T (p.Arg349=) | dbSNP gnomAD v4 |
| 20 | g.49906135C= | CA2368281454 | SPATA2 | c.1047G= (p.Arg349=) | |
| 20 | g.49906135C>G | CA511018265 | SPATA2 | c.1047G>C (p.Arg349=) | |
| 20 | g.49906135C>T | CA511018263 | SPATA2 | c.1047G>A (p.Arg349=) | COSMIC |
| 20 | g.49906136C>A | CA408948387 | SPATA2 | c.1046G>T (p.Arg349Leu) | gnomAD v4 |
| 20 | g.49906136C= | CA2368281455 | SPATA2 | c.1046G= (p.Arg349=) | |
| 20 | g.49906136C>G | CA408948390 | SPATA2 | c.1046G>C (p.Arg349Pro) | |
| 20 | g.49906136C>T | CA408948393 | SPATA2 | c.1046G>A (p.Arg349Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.49906137G>A | CA315122159 | SPATA2 | c.1045C>T (p.Arg349Trp) | dbSNP gnomAD v4 COSMIC |
| 20 | g.49906137G>C | CA408948398 | SPATA2 | c.1045C>G (p.Arg349Gly) | |
| 20 | g.49906137G= | CA2368281456 | SPATA2 | c.1045C= (p.Arg349=) | |
| 20 | g.49906137G>T | CA511018266 | SPATA2 | c.1045C>A (p.Arg349=) | gnomAD v4 |
| 20 | g.49906138A>C | CA511018267 | SPATA2 | c.1044T>G (p.Arg348=) | |
| 20 | g.49906138A>G | CA511018268 | SPATA2 | c.1044T>C (p.Arg348=) | |
| 20 | g.49906138A>T | CA511018269 | SPATA2 | c.1044T>A (p.Arg348=) | |
| 20 | g.49906139C>A | CA408948421 | SPATA2 | c.1043G>T (p.Arg348Leu) | |
| 20 | g.49906139C= | CA2368281457 | SPATA2 | c.1043G= (p.Arg348=) | |
| 20 | g.49906139C>G | CA408948430 | SPATA2 | c.1043G>C (p.Arg348Pro) | |
| 20 | g.49906139C>T | CA9904915 | SPATA2 | c.1043G>A (p.Arg348His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49906140G>A | CA9904916 | SPATA2 | c.1042C>T (p.Arg348Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49906140G>C | CA408948435 | SPATA2 | c.1042C>G (p.Arg348Gly) | |
| 20 | g.49906140G= | CA2368281458 | SPATA2 | c.1042C= (p.Arg348=) | |
| 20 | g.49906140G>T | CA408948436 | SPATA2 | c.1042C>A (p.Arg348Ser) | |
| 20 | g.49906141del | CA2653280250 | SPATA2 | c.1042del (p.Arg348ValfsTer?) | gnomAD v4 |
| 20 | g.49906141G>A | CA511018272 | SPATA2 | c.1041C>T (p.Tyr347=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49906141G>C | CA408948439 | SPATA2 | c.1041C>G (p.Tyr347Ter) | |
| 20 | g.49906141G= | CA2368281459 | SPATA2 | c.1041C= (p.Tyr347=) | |
| 20 | g.49906141G>T | CA408948441 | SPATA2 | c.1041C>A (p.Tyr347Ter) | |
| 20 | g.49906142T>A | CA408948444 | SPATA2 | c.1040A>T (p.Tyr347Phe) | |
| 20 | g.49906142T>C | CA408948447 | SPATA2 | c.1040A>G (p.Tyr347Cys) | |
| 20 | g.49906142T>G | CA408948449 | SPATA2 | c.1040A>C (p.Tyr347Ser) | |
| 20 | g.49906143A>C | CA408948452 | SPATA2 | c.1039T>G (p.Tyr347Asp) | |
| 20 | g.49906143A>G | CA408948454 | SPATA2 | c.1039T>C (p.Tyr347His) | gnomAD v4 |
| 20 | g.49906143A>T | CA408948457 | SPATA2 | c.1039T>A (p.Tyr347Asn) | |
| 20 | g.49906144G>A | CA511018278 | SPATA2 | c.1038C>T (p.Thr346=) | |
| 20 | g.49906144G>C | CA511018276 | SPATA2 | c.1038C>G (p.Thr346=) | |
| 20 | g.49906144G>T | CA511018277 | SPATA2 | c.1038C>A (p.Thr346=) | |
| 20 | g.49906145G>A | CA408948461 | SPATA2 | c.1037C>T (p.Thr346Ile) | |
| 20 | g.49906145G>C | CA408948463 | SPATA2 | c.1037C>G (p.Thr346Ser) | gnomAD v4 |
| 20 | g.49906145G>T | CA408948460 | SPATA2 | c.1037C>A (p.Thr346Asn) | |
| 20 | g.49906146T>A | CA408948469 | SPATA2 | c.1036A>T (p.Thr346Ser) | gnomAD v4 |
| 20 | g.49906146T>C | CA9904917 | SPATA2 | c.1036A>G (p.Thr346Ala) | dbSNP ExAC gnomAD v4 |
| 20 | g.49906146T>G | CA408948473 | SPATA2 | c.1036A>C (p.Thr346Pro) | |
| 20 | g.49906146T= | CA2368281460 | SPATA2 | c.1036A= (p.Thr346=) | |
| 20 | g.49906147G>A | CA511018282 | SPATA2 | c.1035C>T (p.Ala345=) | |
| 20 | g.49906147G>C | CA511018283 | SPATA2 | c.1035C>G (p.Ala345=) | |
| 20 | g.49906147G>T | CA511018284 | SPATA2 | c.1035C>A (p.Ala345=) | |
| 20 | g.49906148G>A | CA408948474 | SPATA2 | c.1034C>T (p.Ala345Val) | gnomAD v4 |
| 20 | g.49906148G>C | CA408948475 | SPATA2 | c.1034C>G (p.Ala345Gly) | gnomAD v4 |
| 20 | g.49906148G= | CA2368281461 | SPATA2 | c.1034C= (p.Ala345=) | |
| 20 | g.49906148G>T | CA408948478 | SPATA2 | c.1034C>A (p.Ala345Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49906149C>A | CA9904918 | SPATA2 | c.1033G>T (p.Ala345Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49906149C= | CA2368281462 | SPATA2 | c.1033G= (p.Ala345=) | |
| 20 | g.49906149C>G | CA408948500 | SPATA2 | c.1033G>C (p.Ala345Pro) | |
| 20 | g.49906149C>T | CA408948497 | SPATA2 | c.1033G>A (p.Ala345Thr) | dbSNP gnomAD v2 |
| 20 | g.49906150C>A | CA408948509 | SPATA2 | c.1032G>T (p.Arg344Ser) | |
| 20 | g.49906150C>G | CA408948511 | SPATA2 | c.1032G>C (p.Arg344Ser) | gnomAD v4 |
| 20 | g.49906150C>T | CA511018286 | SPATA2 | c.1032G>A (p.Arg344=) | |
| 20 | g.49906151C>A | CA408948515 | SPATA2 | c.1031G>T (p.Arg344Met) | |
| 20 | g.49906151C= | CA2368281463 | SPATA2 | c.1031G= (p.Arg344=) | |
| 20 | g.49906151C>G | CA408948517 | SPATA2 | c.1031G>C (p.Arg344Thr) | gnomAD v4 |
| 20 | g.49906151C>T | CA9904919 | SPATA2 | c.1031G>A (p.Arg344Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49906152T>A | CA408948528 | SPATA2 | c.1030A>T (p.Arg344Trp) | COSMIC |
| 20 | g.49906152T>C | CA408948523 | SPATA2 | c.1030A>G (p.Arg344Gly) | |
| 20 | g.49906152T>G | CA511018287 | SPATA2 | c.1030A>C (p.Arg344=) | |
| 20 | g.49906153G>A | CA511018290 | SPATA2 | c.1029C>T (p.Pro343=) | gnomAD v4 |
| 20 | g.49906153G>C | CA511018291 | SPATA2 | c.1029C>G (p.Pro343=) | gnomAD v4 |
| 20 | g.49906153G>T | CA511018292 | SPATA2 | c.1029C>A (p.Pro343=) | |
| 20 | g.49906154G>A | CA408948530 | SPATA2 | c.1028C>T (p.Pro343Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49906154G>C | CA408948536 | SPATA2 | c.1028C>G (p.Pro343Arg) | dbSNP gnomAD v4 |
| 20 | g.49906154G= | CA2368281464 | SPATA2 | c.1028C= (p.Pro343=) | |
| 20 | g.49906154G>T | CA408948533 | SPATA2 | c.1028C>A (p.Pro343His) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49906155G>A | CA408948539 | SPATA2 | c.1027C>T (p.Pro343Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49906155G>C | CA408948544 | SPATA2 | c.1027C>G (p.Pro343Ala) | |
| 20 | g.49906155G= | CA2368281465 | SPATA2 | c.1027C= (p.Pro343=) | |
| 20 | g.49906155G>T | CA408948542 | SPATA2 | c.1027C>A (p.Pro343Thr) | |
| 20 | g.49906156T>A | CA408948545 | SPATA2 | c.1026A>T (p.Glu342Asp) | |
| 20 | g.49906156T>C | CA511018296 | SPATA2 | c.1026A>G (p.Glu342=) | |
| 20 | g.49906156T>G | CA408948546 | SPATA2 | c.1026A>C (p.Glu342Asp) | |
| 20 | g.49906157T>A | CA408948547 | SPATA2 | c.1025A>T (p.Glu342Val) | |
| 20 | g.49906157T>C | CA408948558 | SPATA2 | c.1025A>G (p.Glu342Gly) | |
| 20 | g.49906157T>G | CA408948560 | SPATA2 | c.1025A>C (p.Glu342Ala) | |
| 20 | g.49906157_49906159delinsTCA | CA2368281466 | SPATA2 | c.1023_1025delinsTGA (p.Ser341=) | |
| 20 | g.49906158C>A | CA408948565 | SPATA2 | c.1024G>T (p.Glu342Ter) | gnomAD v4 |
| 20 | g.49906158C>G | CA408948570 | SPATA2 | c.1024G>C (p.Glu342Gln) | |
| 20 | g.49906158C>T | CA408948571 | SPATA2 | c.1024G>A (p.Glu342Lys) | |
| 20 | g.49906158_49906159del | CA9904920 | SPATA2 | c.1023_1024del (p.Glu342ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49906159A= | CA2368281467 | SPATA2 | c.1023T= (p.Ser341=) | |
| 20 | g.49906159A>C | CA511018298 | SPATA2 | c.1023T>G (p.Ser341=) | |
| 20 | g.49906159A>G | CA511018299 | SPATA2 | c.1023T>C (p.Ser341=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49906159A>T | CA511018300 | SPATA2 | c.1023T>A (p.Ser341=) | |
| 20 | g.49906160G>A | CA408948575 | SPATA2 | c.1022C>T (p.Ser341Phe) | gnomAD v4 |
| 20 | g.49906160G>C | CA408948576 | SPATA2 | c.1022C>G (p.Ser341Cys) | gnomAD v4 |
| 20 | g.49906160G>T | CA408948577 | SPATA2 | c.1022C>A (p.Ser341Tyr) | |
| 20 | g.49906161A= | CA2368281468 | SPATA2 | c.1021T= (p.Ser341=) | |
| 20 | g.49906161A>C | CA408948582 | SPATA2 | c.1021T>G (p.Ser341Ala) | |
| 20 | g.49906161A>G | CA408948596 | SPATA2 | c.1021T>C (p.Ser341Pro) | dbSNP gnomAD v4 |
| 20 | g.49906161A>T | CA408948593 | SPATA2 | c.1021T>A (p.Ser341Thr) | |
| 20 | g.49906162G>A | CA511018304 | SPATA2 | c.1020C>T (p.Asp340=) | |
| 20 | g.49906162G>C | CA408948600 | SPATA2 | c.1020C>G (p.Asp340Glu) | |
| 20 | g.49906162G>T | CA408948603 | SPATA2 | c.1020C>A (p.Asp340Glu) | |
| 20 | g.49906163T>A | CA9904921 | SPATA2 | c.1019A>T (p.Asp340Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49906163T>C | CA408948609 | SPATA2 | c.1019A>G (p.Asp340Gly) | |
| 20 | g.49906163T>G | CA9904922 | SPATA2 | c.1019A>C (p.Asp340Ala) | dbSNP ExAC gnomAD v2 |
| 20 | g.49906163T= | CA2368281469 | SPATA2 | c.1019A= (p.Asp340=) | |
| 20 | g.49906164C>A | CA408948614 | SPATA2 | c.1018G>T (p.Asp340Tyr) | |
| 20 | g.49906164C>G | CA408948619 | SPATA2 | c.1018G>C (p.Asp340His) | |
| 20 | g.49906164C>T | CA408948622 | SPATA2 | c.1018G>A (p.Asp340Asn) | |
| 20 | g.49906164_49906165delinsCT | CA2368281470 | SPATA2 | c.1017_1018delinsAG (p.Thr339=) | |
| 20 | g.49906165del | CA9904923 | SPATA2 | c.1017del (p.Asp340ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49906165T>A | CA511018308 | SPATA2 | c.1017A>T (p.Thr339=) | gnomAD v4 |
| 20 | g.49906165T>C | CA511018307 | SPATA2 | c.1017A>G (p.Thr339=) | |
| 20 | g.49906165T>G | CA511018306 | SPATA2 | c.1017A>C (p.Thr339=) | |
| 20 | g.49906166G>A | CA408948642 | SPATA2 | c.1016C>T (p.Thr339Ile) | |
| 20 | g.49906166G>C | CA408948638 | SPATA2 | c.1016C>G (p.Thr339Arg) | |
| 20 | g.49906166G>T | CA408948636 | SPATA2 | c.1016C>A (p.Thr339Lys) | |
| 20 | g.49906167T>A | CA408948647 | SPATA2 | c.1015A>T (p.Thr339Ser) | |
| 20 | g.49906167T>C | CA408948648 | SPATA2 | c.1015A>G (p.Thr339Ala) | gnomAD v4 |
| 20 | g.49906167T>G | CA408948650 | SPATA2 | c.1015A>C (p.Thr339Pro) | |
| 20 | g.49906168G>A | CA511018312 | SPATA2 | c.1014C>T (p.Tyr338=) | |
| 20 | g.49906168G>C | CA408948656 | SPATA2 | c.1014C>G (p.Tyr338Ter) | |
| 20 | g.49906168G>T | CA408948660 | SPATA2 | c.1014C>A (p.Tyr338Ter) | |
| 20 | g.49906169T>A | CA408948693 | SPATA2 | c.1013A>T (p.Tyr338Phe) | |
| 20 | g.49906169T>C | CA408948699 | SPATA2 | c.1013A>G (p.Tyr338Cys) | |
| 20 | g.49906169T>G | CA408948705 | SPATA2 | c.1013A>C (p.Tyr338Ser) | |
| 20 | g.49906170A>C | CA408948710 | SPATA2 | c.1012T>G (p.Tyr338Asp) | |
| 20 | g.49906170A>G | CA408948713 | SPATA2 | c.1012T>C (p.Tyr338His) | |
| 20 | g.49906170A>T | CA408948718 | SPATA2 | c.1012T>A (p.Tyr338Asn) | |
| 20 | g.49906171C>A | CA511018315 | SPATA2 | c.1011G>T (p.Leu337=) | |
| 20 | g.49906171C= | CA2368281471 | SPATA2 | c.1011G= (p.Leu337=) | |
| 20 | g.49906171C>G | CA511018316 | SPATA2 | c.1011G>C (p.Leu337=) | |
| 20 | g.49906171C>T | CA511018317 | SPATA2 | c.1011G>A (p.Leu337=) | dbSNP |
| 20 | g.49906172A>C | CA408948731 | SPATA2 | c.1010T>G (p.Leu337Arg) | |
| 20 | g.49906172A>G | CA408948726 | SPATA2 | c.1010T>C (p.Leu337Pro) | |
| 20 | g.49906172A>T | CA408948724 | SPATA2 | c.1010T>A (p.Leu337Gln) | |
| 20 | g.49906173G>A | CA511018318 | SPATA2 | c.1009C>T (p.Leu337=) | |
| 20 | g.49906173G>C | CA408948736 | SPATA2 | c.1009C>G (p.Leu337Val) | gnomAD v4 COSMIC |
| 20 | g.49906173G>T | CA408948739 | SPATA2 | c.1009C>A (p.Leu337Met) | |
| 20 | g.49906174A>C | CA408948742 | SPATA2 | c.1008T>G (p.Asp336Glu) | |
| 20 | g.49906174A>G | CA511018319 | SPATA2 | c.1008T>C (p.Asp336=) | |
| 20 | g.49906174A>T | CA408948746 | SPATA2 | c.1008T>A (p.Asp336Glu) | |
| 20 | g.49906175T>A | CA408948754 | SPATA2 | c.1007A>T (p.Asp336Val) | |
| 20 | g.49906175T>C | CA408948764 | SPATA2 | c.1007A>G (p.Asp336Gly) | dbSNP |
| 20 | g.49906175T>G | CA408948767 | SPATA2 | c.1007A>C (p.Asp336Ala) | |
| 20 | g.49906175T= | CA2368281472 | SPATA2 | c.1007A= (p.Asp336=) | |
| 20 | g.49906176C>A | CA408948772 | SPATA2 | c.1006G>T (p.Asp336Tyr) | |
| 20 | g.49906176C>G | CA408948777 | SPATA2 | c.1006G>C (p.Asp336His) | |
| 20 | g.49906176C>T | CA408948786 | SPATA2 | c.1006G>A (p.Asp336Asn) | |
| 20 | g.49906177C>A | CA511018321 | SPATA2 | c.1005G>T (p.Val335=) | |
| 20 | g.49906177C>G | CA511018322 | SPATA2 | c.1005G>C (p.Val335=) | |
| 20 | g.49906177C>T | CA511018323 | SPATA2 | c.1005G>A (p.Val335=) | gnomAD v4 |
| 20 | g.49906178A>C | CA408948792 | SPATA2 | c.1004T>G (p.Val335Gly) | |
| 20 | g.49906178A>G | CA408948795 | SPATA2 | c.1004T>C (p.Val335Ala) | |
| 20 | g.49906178A>T | CA408948801 | SPATA2 | c.1004T>A (p.Val335Glu) | |
| 20 | g.49906179C>A | CA408948810 | SPATA2 | c.1003G>T (p.Val335Leu) | gnomAD v4 |
| 20 | g.49906179C= | CA2368281473 | SPATA2 | c.1003G= (p.Val335=) | |
| 20 | g.49906179C>G | CA408948812 | SPATA2 | c.1003G>C (p.Val335Leu) | |
| 20 | g.49906179C>T | CA408948807 | SPATA2 | c.1003G>A (p.Val335Met) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49906180G>A | CA9904924 | SPATA2 | c.1002C>T (p.Asp334=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49906180G>C | CA408948816 | SPATA2 | c.1002C>G (p.Asp334Glu) | |
| 20 | g.49906180G= | CA2368281474 | SPATA2 | c.1002C= (p.Asp334=) | |
| 20 | g.49906180G>T | CA408948820 | SPATA2 | c.1002C>A (p.Asp334Glu) | |
| 20 | g.49906181T>A | CA408948839 | SPATA2 | c.1001A>T (p.Asp334Val) | |
| 20 | g.49906181T>C | CA408948844 | SPATA2 | c.1001A>G (p.Asp334Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49906181T>G | CA408948848 | SPATA2 | c.1001A>C (p.Asp334Ala) | |
| 20 | g.49906181T= | CA2368281475 | SPATA2 | c.1001A= (p.Asp334=) | |
| 20 | g.49906182C>A | CA408948851 | SPATA2 | c.1000G>T (p.Asp334Tyr) | |
| 20 | g.49906182C>G | CA408948859 | SPATA2 | c.1000G>C (p.Asp334His) | |
| 20 | g.49906182C>T | CA408948870 | SPATA2 | c.1000G>A (p.Asp334Asn) | |
| 20 | g.49906183A>C | CA408948875 | SPATA2 | c.999T>G (p.Asp333Glu) | gnomAD v4 |
| 20 | g.49906183A>G | CA511018328 | SPATA2 | c.999T>C (p.Asp333=) | |
| 20 | g.49906183A>T | CA408948879 | SPATA2 | c.999T>A (p.Asp333Glu) | |
| 20 | g.49906184T>A | CA408948884 | SPATA2 | c.998A>T (p.Asp333Val) | |
| 20 | g.49906184T>C | CA408948887 | SPATA2 | c.998A>G (p.Asp333Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49906184T>G | CA408948891 | SPATA2 | c.998A>C (p.Asp333Ala) | |
| 20 | g.49906184T= | CA2368281476 | SPATA2 | c.998A= (p.Asp333=) | |
| 20 | g.49906185C>A | CA408948896 | SPATA2 | c.997G>T (p.Asp333Tyr) | |
| 20 | g.49906185C= | CA2368281477 | SPATA2 | c.997G= (p.Asp333=) | |
| 20 | g.49906185C>G | CA408948918 | SPATA2 | c.997G>C (p.Asp333His) | ClinVar |
| 20 | g.49906185C>T | CA9904925 | SPATA2 | c.997G>A (p.Asp333Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |