SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.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) | |
| 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) |