Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.11881057A>C | CA502927802 | GNAL | c.1299A>C (p.Thr433=) c.1068A>C (p.Thr356=) c.447A>C (p.Thr149=) | |
18 | g.11881057A>G | CA502927803 | GNAL | c.1299A>G (p.Thr433=) c.1068A>G (p.Thr356=) c.447A>G (p.Thr149=) | |
18 | g.11881057A>T | CA502927804 | GNAL | c.1299A>T (p.Thr433=) c.1068A>T (p.Thr356=) c.447A>T (p.Thr149=) | |
18 | g.11881058G>A | CA401928288 | GNAL | c.1300G>A (p.Glu434Lys) c.1069G>A (p.Glu357Lys) c.448G>A (p.Glu150Lys) | |
18 | g.11881058G>C | CA401928289 | GNAL | c.1300G>C (p.Glu434Gln) c.1069G>C (p.Glu357Gln) c.448G>C (p.Glu150Gln) | gnomAD v4 COSMIC COSMIC |
18 | g.11881058G>T | CA401928290 | GNAL | c.1300G>T (p.Glu434Ter) c.1069G>T (p.Glu357Ter) c.448G>T (p.Glu150Ter) | |
18 | g.11881059A= | CA2284983273 | GNAL | c.1301A= (p.Glu434=) c.1070A= (p.Glu357=) c.449A= (p.Glu150=) | |
18 | g.11881059A>C | CA8894273 | GNAL | c.1301A>C (p.Glu434Ala) c.1070A>C (p.Glu357Ala) c.449A>C (p.Glu150Ala) | dbSNP ExAC gnomAD v2 |
18 | g.11881059A>G | CA401928291 | GNAL | c.1301A>G (p.Glu434Gly) c.1070A>G (p.Glu357Gly) c.449A>G (p.Glu150Gly) | |
18 | g.11881059A>T | CA401928292 | GNAL | c.1301A>T (p.Glu434Val) c.1070A>T (p.Glu357Val) c.449A>T (p.Glu150Val) | |
18 | g.11881060G>A | CA502927805 | GNAL | c.1302G>A (p.Glu434=) c.1071G>A (p.Glu357=) c.450G>A (p.Glu150=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.11881060G>C | CA401928293 | GNAL | c.1302G>C (p.Glu434Asp) c.1071G>C (p.Glu357Asp) c.450G>C (p.Glu150Asp) | |
18 | g.11881060G= | CA2284983274 | GNAL | c.1302G= (p.Glu434=) c.1071G= (p.Glu357=) c.450G= (p.Glu150=) | |
18 | g.11881060G>T | CA401928294 | GNAL | c.1302G>T (p.Glu434Asp) c.1071G>T (p.Glu357Asp) c.450G>T (p.Glu150Asp) | |
18 | g.11881061A>C | CA401928295 | GNAL | c.1303A>C (p.Asn435His) c.1072A>C (p.Asn358His) c.451A>C (p.Asn151His) | |
18 | g.11881061A>G | CA401928297 | GNAL | c.1303A>G (p.Asn435Asp) c.1072A>G (p.Asn358Asp) c.451A>G (p.Asn151Asp) | |
18 | g.11881061A>T | CA401928296 | GNAL | c.1303A>T (p.Asn435Tyr) c.1072A>T (p.Asn358Tyr) c.451A>T (p.Asn151Tyr) | |
18 | g.11881062A>C | CA401928298 | GNAL | c.1304A>C (p.Asn435Thr) c.1073A>C (p.Asn358Thr) c.452A>C (p.Asn151Thr) | |
18 | g.11881062A>G | CA401928299 | GNAL | c.1304A>G (p.Asn435Ser) c.1073A>G (p.Asn358Ser) c.452A>G (p.Asn151Ser) | |
18 | g.11881062A>T | CA401928300 | GNAL | c.1304A>T (p.Asn435Ile) c.1073A>T (p.Asn358Ile) c.452A>T (p.Asn151Ile) | |
18 | g.11881063C>A | CA401928301 | GNAL | c.1305C>A (p.Asn435Lys) c.1074C>A (p.Asn358Lys) c.453C>A (p.Asn151Lys) | |
18 | g.11881063C= | CA2284983275 | GNAL | c.1305C= (p.Asn435=) c.1074C= (p.Asn358=) c.453C= (p.Asn151=) | |
18 | g.11881063C>G | CA401928302 | GNAL | c.1305C>G (p.Asn435Lys) c.1074C>G (p.Asn358Lys) c.453C>G (p.Asn151Lys) | |
18 | g.11881063C>T | CA8894274 | GNAL | c.1305C>T (p.Asn435=) c.1074C>T (p.Asn358=) c.453C>T (p.Asn151=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.11881064A>C | CA401928303 | GNAL | c.1306A>C (p.Ile436Leu) c.1075A>C (p.Ile359Leu) c.454A>C (p.Ile152Leu) | |
18 | g.11881064A>G | CA401928304 | GNAL | c.1306A>G (p.Ile436Val) c.1075A>G (p.Ile359Val) c.454A>G (p.Ile152Val) | gnomAD v4 |
18 | g.11881064A>T | CA401928305 | GNAL | c.1306A>T (p.Ile436Phe) c.1075A>T (p.Ile359Phe) c.454A>T (p.Ile152Phe) | |
18 | g.11881065T>A | CA401928306 | GNAL | c.1307T>A (p.Ile436Asn) c.1076T>A (p.Ile359Asn) c.455T>A (p.Ile152Asn) | |
18 | g.11881065T>C | CA401928307 | GNAL | c.1307T>C (p.Ile436Thr) c.1076T>C (p.Ile359Thr) c.455T>C (p.Ile152Thr) | dbSNP gnomAD v2 |
18 | g.11881065T>G | CA401928308 | GNAL | c.1307T>G (p.Ile436Ser) c.1076T>G (p.Ile359Ser) c.455T>G (p.Ile152Ser) | |
18 | g.11881065T= | CA2284983276 | GNAL | c.1307T= (p.Ile436=) c.1076T= (p.Ile359=) c.455T= (p.Ile152=) | |
18 | g.11881066C>A | CA296058690 | GNAL | c.1308C>A (p.Ile436=) c.1077C>A (p.Ile359=) c.456C>A (p.Ile152=) | dbSNP |
18 | g.11881066C= | CA2284983277 | GNAL | c.1308C= (p.Ile436=) c.1077C= (p.Ile359=) c.456C= (p.Ile152=) | |
18 | g.11881066C>G | CA401928309 | GNAL | c.1308C>G (p.Ile436Met) c.1077C>G (p.Ile359Met) c.456C>G (p.Ile152Met) | |
18 | g.11881066C>T | CA502927806 | GNAL | c.1308C>T (p.Ile436=) c.1077C>T (p.Ile359=) c.456C>T (p.Ile152=) | |
18 | g.11881067C>A | CA401928310 | GNAL | c.1309C>A (p.Arg437Ser) c.1078C>A (p.Arg360Ser) c.457C>A (p.Arg153Ser) | COSMIC COSMIC |
18 | g.11881067C= | CA2284983278 | GNAL | c.1309C= (p.Arg437=) c.1078C= (p.Arg360=) c.457C= (p.Arg153=) | |
18 | g.11881067C>G | CA401928312 | GNAL | c.1309C>G (p.Arg437Gly) c.1078C>G (p.Arg360Gly) c.457C>G (p.Arg153Gly) | |
18 | g.11881067C>T | CA401928311 | GNAL | c.1309C>T (p.Arg437Cys) c.1078C>T (p.Arg360Cys) c.457C>T (p.Arg153Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
18 | g.11881068G>A | CA401928313 | GNAL | c.1310G>A (p.Arg437His) c.1079G>A (p.Arg360His) c.458G>A (p.Arg153His) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.11881068G>C | CA401928314 | GNAL | c.1310G>C (p.Arg437Pro) c.1079G>C (p.Arg360Pro) c.458G>C (p.Arg153Pro) | |
18 | g.11881068G= | CA2284983279 | GNAL | c.1310G= (p.Arg437=) c.1079G= (p.Arg360=) c.458G= (p.Arg153=) | |
18 | g.11881068G>T | CA8894275 | GNAL | c.1310G>T (p.Arg437Leu) c.1079G>T (p.Arg360Leu) c.458G>T (p.Arg153Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.11881069C>A | CA502927808 | GNAL | c.1311C>A (p.Arg437=) c.1080C>A (p.Arg360=) c.459C>A (p.Arg153=) | |
18 | g.11881069C= | CA2284983280 | GNAL | c.1311C= (p.Arg437=) c.1080C= (p.Arg360=) c.459C= (p.Arg153=) | |
18 | g.11881069C>G | CA502927809 | GNAL | c.1311C>G (p.Arg437=) c.1080C>G (p.Arg360=) c.459C>G (p.Arg153=) | |
18 | g.11881069C>T | CA502927810 | GNAL | c.1311C>T (p.Arg437=) c.1080C>T (p.Arg360=) c.459C>T (p.Arg153=) | dbSNP gnomAD v4 |
18 | g.11881070A>C | CA502927811 | GNAL | c.1312A>C (p.Arg438=) c.1081A>C (p.Arg361=) c.460A>C (p.Arg154=) | |
18 | g.11881070A>G | CA401928315 | GNAL | c.1312A>G (p.Arg438Gly) c.1081A>G (p.Arg361Gly) c.460A>G (p.Arg154Gly) | |
18 | g.11881070A>T | CA401928316 | GNAL | c.1312A>T (p.Arg438Trp) c.1081A>T (p.Arg361Trp) c.460A>T (p.Arg154Trp) | |
18 | g.11881071G>A | CA401928317 | GNAL | c.1313G>A (p.Arg438Lys) c.1082G>A (p.Arg361Lys) c.461G>A (p.Arg154Lys) | dbSNP |
18 | g.11881071G>C | CA401928318 | GNAL | c.1313G>C (p.Arg438Thr) c.1082G>C (p.Arg361Thr) c.461G>C (p.Arg154Thr) | |
18 | g.11881071G= | CA2284983281 | GNAL | c.1313G= (p.Arg438=) c.1082G= (p.Arg361=) c.461G= (p.Arg154=) | |
18 | g.11881071G>T | CA401928319 | GNAL | c.1313G>T (p.Arg438Met) c.1082G>T (p.Arg361Met) c.461G>T (p.Arg154Met) | |
18 | g.11881072G>A | CA296058700 | GNAL | c.1314G>A (p.Arg438=) c.1083G>A (p.Arg361=) c.462G>A (p.Arg154=) | dbSNP |
18 | g.11881072G>C | CA401928320 | GNAL | c.1314G>C (p.Arg438Ser) c.1083G>C (p.Arg361Ser) c.462G>C (p.Arg154Ser) | |
18 | g.11881072G= | CA2284983282 | GNAL | c.1314G= (p.Arg438=) c.1083G= (p.Arg361=) c.462G= (p.Arg154=) | |
18 | g.11881072G>T | CA401928321 | GNAL | c.1314G>T (p.Arg438Ser) c.1083G>T (p.Arg361Ser) c.462G>T (p.Arg154Ser) | |
18 | g.11881073G>A | CA401928324 | GNAL | c.1315G>A (p.Val439Met) c.1084G>A (p.Val362Met) c.463G>A (p.Val155Met) | |
18 | g.11881073G>C | CA401928323 | GNAL | c.1315G>C (p.Val439Leu) c.1084G>C (p.Val362Leu) c.463G>C (p.Val155Leu) | |
18 | g.11881073G>T | CA401928322 | GNAL | c.1315G>T (p.Val439Leu) c.1084G>T (p.Val362Leu) c.463G>T (p.Val155Leu) | |
18 | g.11881074T>A | CA401928325 | GNAL | c.1316T>A (p.Val439Glu) c.1085T>A (p.Val362Glu) c.464T>A (p.Val155Glu) | |
18 | g.11881074T>C | CA401928326 | GNAL | c.1316T>C (p.Val439Ala) c.1085T>C (p.Val362Ala) c.464T>C (p.Val155Ala) | |
18 | g.11881074T>G | CA401928327 | GNAL | c.1316T>G (p.Val439Gly) c.1085T>G (p.Val362Gly) c.464T>G (p.Val155Gly) | |
18 | g.11881075G>A | CA8894276 | GNAL | c.1317G>A (p.Val439=) c.1086G>A (p.Val362=) c.465G>A (p.Val155=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.11881075G>C | CA502927813 | GNAL | c.1317G>C (p.Val439=) c.1086G>C (p.Val362=) c.465G>C (p.Val155=) | |
18 | g.11881075G= | CA2284983283 | GNAL | c.1317G= (p.Val439=) c.1086G= (p.Val362=) c.465G= (p.Val155=) | |
18 | g.11881075G>T | CA502927814 | GNAL | c.1317G>T (p.Val439=) c.1086G>T (p.Val362=) c.465G>T (p.Val155=) | |
18 | g.11881076T>A | CA401928328 | GNAL | c.1318T>A (p.Phe440Ile) c.1087T>A (p.Phe363Ile) c.466T>A (p.Phe156Ile) | |
18 | g.11881076T>C | CA401928329 | GNAL | c.1318T>C (p.Phe440Leu) c.1087T>C (p.Phe363Leu) c.466T>C (p.Phe156Leu) | |
18 | g.11881076T>G | CA401928330 | GNAL | c.1318T>G (p.Phe440Val) c.1087T>G (p.Phe363Val) c.466T>G (p.Phe156Val) | gnomAD v4 |
18 | g.11881077T>A | CA401928331 | GNAL | c.1319T>A (p.Phe440Tyr) c.1088T>A (p.Phe363Tyr) c.467T>A (p.Phe156Tyr) | |
18 | g.11881077T>C | CA401928332 | GNAL | c.1319T>C (p.Phe440Ser) c.1088T>C (p.Phe363Ser) c.467T>C (p.Phe156Ser) | |
18 | g.11881077T>G | CA401928333 | GNAL | c.1319T>G (p.Phe440Cys) c.1088T>G (p.Phe363Cys) c.467T>G (p.Phe156Cys) | |
18 | g.11881078C>A | CA401928334 | GNAL | c.1320C>A (p.Phe440Leu) c.1089C>A (p.Phe363Leu) c.468C>A (p.Phe156Leu) | |
18 | g.11881078C>G | CA401928335 | GNAL | c.1320C>G (p.Phe440Leu) c.1089C>G (p.Phe363Leu) c.468C>G (p.Phe156Leu) | |
18 | g.11881078C>T | CA502927815 | GNAL | c.1320C>T (p.Phe440=) c.1089C>T (p.Phe363=) c.468C>T (p.Phe156=) | gnomAD v4 |
18 | g.11881079A>C | CA401928337 | GNAL | c.1321A>C (p.Asn441His) c.1090A>C (p.Asn364His) c.469A>C (p.Asn157His) | |
18 | g.11881079A>G | CA401928338 | GNAL | c.1321A>G (p.Asn441Asp) c.1090A>G (p.Asn364Asp) c.469A>G (p.Asn157Asp) | |
18 | g.11881079A>T | CA401928336 | GNAL | c.1321A>T (p.Asn441Tyr) c.1090A>T (p.Asn364Tyr) c.469A>T (p.Asn157Tyr) | |
18 | g.11881080A>C | CA401928339 | GNAL | c.1322A>C (p.Asn441Thr) c.1091A>C (p.Asn364Thr) c.470A>C (p.Asn157Thr) | |
18 | g.11881080A>G | CA401928340 | GNAL | c.1322A>G (p.Asn441Ser) c.1091A>G (p.Asn364Ser) c.470A>G (p.Asn157Ser) | |
18 | g.11881080A>T | CA401928341 | GNAL | c.1322A>T (p.Asn441Ile) c.1091A>T (p.Asn364Ile) c.470A>T (p.Asn157Ile) | |
18 | g.11881081C>A | CA401928342 | GNAL | c.1323C>A (p.Asn441Lys) c.1092C>A (p.Asn364Lys) c.471C>A (p.Asn157Lys) | |
18 | g.11881081C= | CA2284983284 | GNAL | c.1323C= (p.Asn441=) c.1092C= (p.Asn364=) c.471C= (p.Asn157=) | |
18 | g.11881081C>G | CA401928343 | GNAL | c.1323C>G (p.Asn441Lys) c.1092C>G (p.Asn364Lys) c.471C>G (p.Asn157Lys) | |
18 | g.11881081C>T | CA502927818 | GNAL | c.1323C>T (p.Asn441=) c.1092C>T (p.Asn364=) c.471C>T (p.Asn157=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.11881082G>A | CA8894277 | GNAL | c.1324G>A (p.Asp442Asn) c.1093G>A (p.Asp365Asn) c.472G>A (p.Asp158Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.11881082G>C | CA401928344 | GNAL | c.1324G>C (p.Asp442His) c.1093G>C (p.Asp365His) c.472G>C (p.Asp158His) | |
18 | g.11881082G= | CA2284983285 | GNAL | c.1324G= (p.Asp442=) c.1093G= (p.Asp365=) c.472G= (p.Asp158=) | |
18 | g.11881082G>T | CA401928345 | GNAL | c.1324G>T (p.Asp442Tyr) c.1093G>T (p.Asp365Tyr) c.472G>T (p.Asp158Tyr) | |
18 | g.11881083A>C | CA401928346 | GNAL | c.1325A>C (p.Asp442Ala) c.1094A>C (p.Asp365Ala) c.473A>C (p.Asp158Ala) | |
18 | g.11881083A>G | CA401928347 | GNAL | c.1325A>G (p.Asp442Gly) c.1094A>G (p.Asp365Gly) c.473A>G (p.Asp158Gly) | ClinVar |
18 | g.11881083A>T | CA401928348 | GNAL | c.1325A>T (p.Asp442Val) c.1094A>T (p.Asp365Val) c.473A>T (p.Asp158Val) | |
18 | g.11881084C>A | CA401928349 | GNAL | c.1326C>A (p.Asp442Glu) c.1095C>A (p.Asp365Glu) c.474C>A (p.Asp158Glu) | |
18 | g.11881084C>G | CA401928350 | GNAL | c.1326C>G (p.Asp442Glu) c.1095C>G (p.Asp365Glu) c.474C>G (p.Asp158Glu) | |
18 | g.11881084C>T | CA502927822 | GNAL | c.1326C>T (p.Asp442=) c.1095C>T (p.Asp365=) c.474C>T (p.Asp158=) | |
18 | g.11881085T>A | CA401928351 | GNAL | c.1327T>A (p.Cys443Ser) c.1096T>A (p.Cys366Ser) c.475T>A (p.Cys159Ser) | |
18 | g.11881085T>C | CA401928353 | GNAL | c.1327T>C (p.Cys443Arg) c.1096T>C (p.Cys366Arg) c.475T>C (p.Cys159Arg) | |
18 | g.11881085T>G | CA401928352 | GNAL | c.1327T>G (p.Cys443Gly) c.1096T>G (p.Cys366Gly) c.475T>G (p.Cys159Gly) | |
18 | g.11881086G>A | CA401928354 | GNAL | c.1328G>A (p.Cys443Tyr) c.1097G>A (p.Cys366Tyr) c.476G>A (p.Cys159Tyr) | |
18 | g.11881086G>C | CA401928356 | GNAL | c.1328G>C (p.Cys443Ser) c.1097G>C (p.Cys366Ser) c.476G>C (p.Cys159Ser) | |
18 | g.11881086G>T | CA401928355 | GNAL | c.1328G>T (p.Cys443Phe) c.1097G>T (p.Cys366Phe) c.476G>T (p.Cys159Phe) | |
18 | g.11881087C>A | CA401928357 | GNAL | c.1329C>A (p.Cys443Ter) c.1098C>A (p.Cys366Ter) c.477C>A (p.Cys159Ter) | |
18 | g.11881087C= | CA2284983286 | GNAL | c.1329C= (p.Cys443=) c.1098C= (p.Cys366=) c.477C= (p.Cys159=) | |
18 | g.11881087C>G | CA401928358 | GNAL | c.1329C>G (p.Cys443Trp) c.1098C>G (p.Cys366Trp) c.477C>G (p.Cys159Trp) | |
18 | g.11881087C>T | CA502927823 | GNAL | c.1329C>T (p.Cys443=) c.1098C>T (p.Cys366=) c.477C>T (p.Cys159=) | dbSNP |
18 | g.11881088C>A | CA401928359 | GNAL | c.1330C>A (p.Arg444Ser) c.1099C>A (p.Arg367Ser) c.478C>A (p.Arg160Ser) | |
18 | g.11881088C= | CA2284983287 | GNAL | c.1330C= (p.Arg444=) c.1099C= (p.Arg367=) c.478C= (p.Arg160=) | |
18 | g.11881088C>G | CA401928360 | GNAL | c.1330C>G (p.Arg444Gly) c.1099C>G (p.Arg367Gly) c.478C>G (p.Arg160Gly) | COSMIC COSMIC |
18 | g.11881088C>T | CA8894278 | GNAL | c.1330C>T (p.Arg444Cys) c.1099C>T (p.Arg367Cys) c.478C>T (p.Arg160Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.11881089G>A | CA401928361 | GNAL | c.1331G>A (p.Arg444His) c.1100G>A (p.Arg367His) c.479G>A (p.Arg160His) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.11881089G>C | CA401928362 | GNAL | c.1331G>C (p.Arg444Pro) c.1100G>C (p.Arg367Pro) c.479G>C (p.Arg160Pro) | |
18 | g.11881089G= | CA2284983288 | GNAL | c.1331G= (p.Arg444=) c.1100G= (p.Arg367=) c.479G= (p.Arg160=) | |
18 | g.11881089G>T | CA401928363 | GNAL | c.1331G>T (p.Arg444Leu) c.1100G>T (p.Arg367Leu) c.479G>T (p.Arg160Leu) | |
18 | g.11881090C>A | CA502927825 | GNAL | c.1332C>A (p.Arg444=) c.1101C>A (p.Arg367=) c.480C>A (p.Arg160=) | |
18 | g.11881090C= | CA2284983289 | GNAL | c.1332C= (p.Arg444=) c.1101C= (p.Arg367=) c.480C= (p.Arg160=) | |
18 | g.11881090C>G | CA502927826 | GNAL | c.1332C>G (p.Arg444=) c.1101C>G (p.Arg367=) c.480C>G (p.Arg160=) | |
18 | g.11881090C>T | CA296058712 | GNAL | c.1332C>T (p.Arg444=) c.1101C>T (p.Arg367=) c.480C>T (p.Arg160=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.11881091G>A | CA8894279 | GNAL | c.1333G>A (p.Asp445Asn) c.1102G>A (p.Asp368Asn) c.481G>A (p.Asp161Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.11881091G>C | CA401928364 | GNAL | c.1333G>C (p.Asp445His) c.1102G>C (p.Asp368His) c.481G>C (p.Asp161His) | |
18 | g.11881091G= | CA2284983290 | GNAL | c.1333G= (p.Asp445=) c.1102G= (p.Asp368=) c.481G= (p.Asp161=) | |
18 | g.11881091G>T | CA401928365 | GNAL | c.1333G>T (p.Asp445Tyr) c.1102G>T (p.Asp368Tyr) c.481G>T (p.Asp161Tyr) | |
18 | g.11881092A>C | CA401928366 | GNAL | c.1334A>C (p.Asp445Ala) c.1103A>C (p.Asp368Ala) c.482A>C (p.Asp161Ala) | |
18 | g.11881092A>G | CA401928367 | GNAL | c.1334A>G (p.Asp445Gly) c.1103A>G (p.Asp368Gly) c.482A>G (p.Asp161Gly) | |
18 | g.11881092A>T | CA401928368 | GNAL | c.1334A>T (p.Asp445Val) c.1103A>T (p.Asp368Val) c.482A>T (p.Asp161Val) | |
18 | g.11881093C>A | CA401928369 | GNAL | c.1335C>A (p.Asp445Glu) c.1104C>A (p.Asp368Glu) c.483C>A (p.Asp161Glu) | |
18 | g.11881093C>G | CA401928370 | GNAL | c.1335C>G (p.Asp445Glu) c.1104C>G (p.Asp368Glu) c.483C>G (p.Asp161Glu) | |
18 | g.11881093C>T | CA502927827 | GNAL | c.1335C>T (p.Asp445=) c.1104C>T (p.Asp368=) c.483C>T (p.Asp161=) | gnomAD v4 |
18 | g.11881094A= | CA2284983291 | GNAL | c.1336A= (p.Ile446=) c.1105A= (p.Ile369=) c.484A= (p.Ile162=) | |
18 | g.11881094A>C | CA401928373 | GNAL | c.1336A>C (p.Ile446Leu) c.1105A>C (p.Ile369Leu) c.484A>C (p.Ile162Leu) | |
18 | g.11881094A>G | CA401928372 | GNAL | c.1336A>G (p.Ile446Val) c.1105A>G (p.Ile369Val) c.484A>G (p.Ile162Val) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.11881094A>T | CA401928371 | GNAL | c.1336A>T (p.Ile446Phe) c.1105A>T (p.Ile369Phe) c.484A>T (p.Ile162Phe) | |
18 | g.11881095T>A | CA401928374 | GNAL | c.1337T>A (p.Ile446Asn) c.1106T>A (p.Ile369Asn) c.485T>A (p.Ile162Asn) | |
18 | g.11881095T>C | CA401928375 | GNAL | c.1337T>C (p.Ile446Thr) c.1106T>C (p.Ile369Thr) c.485T>C (p.Ile162Thr) | |
18 | g.11881095T>G | CA401928376 | GNAL | c.1337T>G (p.Ile446Ser) c.1106T>G (p.Ile369Ser) c.485T>G (p.Ile162Ser) | |
18 | g.11881096C>A | CA502927828 | GNAL | c.1338C>A (p.Ile446=) c.1107C>A (p.Ile369=) c.486C>A (p.Ile162=) | |
18 | g.11881096C>G | CA401928377 | GNAL | c.1338C>G (p.Ile446Met) c.1107C>G (p.Ile369Met) c.486C>G (p.Ile162Met) | |
18 | g.11881096C>T | CA502927830 | GNAL | c.1338C>T (p.Ile446=) c.1107C>T (p.Ile369=) c.486C>T (p.Ile162=) | |
18 | g.11881097A>C | CA401928378 | GNAL | c.1339A>C (p.Ile447Leu) c.1108A>C (p.Ile370Leu) c.487A>C (p.Ile163Leu) | |
18 | g.11881097A>G | CA401928379 | GNAL | c.1339A>G (p.Ile447Val) c.1108A>G (p.Ile370Val) c.487A>G (p.Ile163Val) | |
18 | g.11881097A>T | CA401928380 | GNAL | c.1339A>T (p.Ile447Phe) c.1108A>T (p.Ile370Phe) c.487A>T (p.Ile163Phe) | |
18 | g.11881098T>A | CA401928381 | GNAL | c.1340T>A (p.Ile447Asn) c.1109T>A (p.Ile370Asn) c.488T>A (p.Ile163Asn) | |
18 | g.11881098T>C | CA401928382 | GNAL | c.1340T>C (p.Ile447Thr) c.1109T>C (p.Ile370Thr) c.488T>C (p.Ile163Thr) | |
18 | g.11881098T>G | CA401928383 | GNAL | c.1340T>G (p.Ile447Ser) c.1109T>G (p.Ile370Ser) c.488T>G (p.Ile163Ser) | |
18 | g.11881099C>A | CA502927832 | GNAL | c.1341C>A (p.Ile447=) c.1110C>A (p.Ile370=) c.489C>A (p.Ile163=) | |
18 | g.11881099C>G | CA401928384 | GNAL | c.1341C>G (p.Ile447Met) c.1110C>G (p.Ile370Met) c.489C>G (p.Ile163Met) | |
18 | g.11881099C>T | CA502927833 | GNAL | c.1341C>T (p.Ile447=) c.1110C>T (p.Ile370=) c.489C>T (p.Ile163=) | gnomAD v4 |
18 | g.11881100C>A | CA401928385 | GNAL | c.1342C>A (p.Gln448Lys) c.1111C>A (p.Gln371Lys) c.490C>A (p.Gln164Lys) | gnomAD v4 |
18 | g.11881100C>G | CA401928386 | GNAL | c.1342C>G (p.Gln448Glu) c.1111C>G (p.Gln371Glu) c.490C>G (p.Gln164Glu) | |
18 | g.11881100C>T | CA401928387 | GNAL | c.1342C>T (p.Gln448Ter) c.1111C>T (p.Gln371Ter) c.490C>T (p.Gln164Ter) | |
18 | g.11881101A>C | CA401928389 | GNAL | c.1343A>C (p.Gln448Pro) c.1112A>C (p.Gln371Pro) c.491A>C (p.Gln164Pro) | |
18 | g.11881101A>G | CA401928390 | GNAL | c.1343A>G (p.Gln448Arg) c.1112A>G (p.Gln371Arg) c.491A>G (p.Gln164Arg) | |
18 | g.11881101A>T | CA401928388 | GNAL | c.1343A>T (p.Gln448Leu) c.1112A>T (p.Gln371Leu) c.491A>T (p.Gln164Leu) | |
18 | g.11881102G>A | CA502927834 | GNAL | c.1344G>A (p.Gln448=) c.1113G>A (p.Gln371=) c.492G>A (p.Gln164=) | |
18 | g.11881102G>C | CA401928391 | GNAL | c.1344G>C (p.Gln448His) c.1113G>C (p.Gln371His) c.492G>C (p.Gln164His) | |
18 | g.11881102G>T | CA401928392 | GNAL | c.1344G>T (p.Gln448His) c.1113G>T (p.Gln371His) c.492G>T (p.Gln164His) | |
18 | g.11881103C>A | CA502927837 | GNAL | c.1345C>A (p.Arg449=) c.1114C>A (p.Arg372=) c.493C>A (p.Arg165=) | dbSNP gnomAD v4 |
18 | g.11881103C= | CA2284983292 | GNAL | c.1345C= (p.Arg449=) c.1114C= (p.Arg372=) c.493C= (p.Arg165=) | |
18 | g.11881103C>G | CA401928393 | GNAL | c.1345C>G (p.Arg449Gly) c.1114C>G (p.Arg372Gly) c.493C>G (p.Arg165Gly) | |
18 | g.11881103C>T | CA401928394 | GNAL | c.1345C>T (p.Arg449Trp) c.1114C>T (p.Arg372Trp) c.493C>T (p.Arg165Trp) | |
18 | g.11881104G>A | CA8894280 | GNAL | c.1346G>A (p.Arg449Gln) c.1115G>A (p.Arg372Gln) c.494G>A (p.Arg165Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.11881104G>C | CA401928395 | GNAL | c.1346G>C (p.Arg449Pro) c.1115G>C (p.Arg372Pro) c.494G>C (p.Arg165Pro) | |
18 | g.11881104G= | CA2284983293 | GNAL | c.1346G= (p.Arg449=) c.1115G= (p.Arg372=) c.494G= (p.Arg165=) | |
18 | g.11881104G>T | CA401928396 | GNAL | c.1346G>T (p.Arg449Leu) c.1115G>T (p.Arg372Leu) c.494G>T (p.Arg165Leu) | |
18 | g.11881105G>A | CA502927838 | GNAL | c.1347G>A (p.Arg449=) c.1116G>A (p.Arg372=) c.495G>A (p.Arg165=) | dbSNP |
18 | g.11881105G>C | CA502927839 | GNAL | c.1347G>C (p.Arg449=) c.1116G>C (p.Arg372=) c.495G>C (p.Arg165=) | gnomAD v4 |
18 | g.11881105G>T | CA502927840 | GNAL | c.1347G>T (p.Arg449=) c.1116G>T (p.Arg372=) c.495G>T (p.Arg165=) | |
18 | g.11881106A>C | CA401928397 | GNAL | c.1348A>C (p.Met450Leu) c.1117A>C (p.Met373Leu) c.496A>C (p.Met166Leu) | |
18 | g.11881106A>G | CA401928398 | GNAL | c.1348A>G (p.Met450Val) c.1117A>G (p.Met373Val) c.496A>G (p.Met166Val) | |
18 | g.11881106A>T | CA401928399 | GNAL | c.1348A>T (p.Met450Leu) c.1117A>T (p.Met373Leu) c.496A>T (p.Met166Leu) | |
18 | g.11881107T>A | CA401928400 | GNAL | c.1349T>A (p.Met450Lys) c.1118T>A (p.Met373Lys) c.497T>A (p.Met166Lys) | |
18 | g.11881107T>C | CA401928401 | GNAL | c.1349T>C (p.Met450Thr) c.1118T>C (p.Met373Thr) c.497T>C (p.Met166Thr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.11881107T>G | CA401928402 | GNAL | c.1349T>G (p.Met450Arg) c.1118T>G (p.Met373Arg) c.497T>G (p.Met166Arg) | |
18 | g.11881107T= | CA2284983294 | GNAL | c.1349T= (p.Met450=) c.1118T= (p.Met373=) c.497T= (p.Met166=) | |
18 | g.11881108G>A | CA401928405 | GNAL | c.1350G>A (p.Met450Ile) c.1119G>A (p.Met373Ile) c.498G>A (p.Met166Ile) | |
18 | g.11881108G>C | CA401928403 | GNAL | c.1350G>C (p.Met450Ile) c.1119G>C (p.Met373Ile) c.498G>C (p.Met166Ile) | |
18 | g.11881108G>T | CA401928404 | GNAL | c.1350G>T (p.Met450Ile) c.1119G>T (p.Met373Ile) c.498G>T (p.Met166Ile) | |
18 | g.11881109C>A | CA401928406 | GNAL | c.1351C>A (p.His451Asn) c.1120C>A (p.His374Asn) c.499C>A (p.His167Asn) | gnomAD v4 |
18 | g.11881109C>G | CA401928407 | GNAL | c.1351C>G (p.His451Asp) c.1120C>G (p.His374Asp) c.499C>G (p.His167Asp) | |
18 | g.11881109C>T | CA401928408 | GNAL | c.1351C>T (p.His451Tyr) c.1120C>T (p.His374Tyr) c.499C>T (p.His167Tyr) | |
18 | g.11881110A>C | CA401928409 | GNAL | c.1352A>C (p.His451Pro) c.1121A>C (p.His374Pro) c.500A>C (p.His167Pro) | |
18 | g.11881110A>G | CA401928410 | GNAL | c.1352A>G (p.His451Arg) c.1121A>G (p.His374Arg) c.500A>G (p.His167Arg) | |
18 | g.11881110A>T | CA401928411 | GNAL | c.1352A>T (p.His451Leu) c.1121A>T (p.His374Leu) c.500A>T (p.His167Leu) | |
18 | g.11881111C>A | CA401928412 | GNAL | c.1353C>A (p.His451Gln) c.1122C>A (p.His374Gln) c.501C>A (p.His167Gln) | |
18 | g.11881111C= | CA2284983295 | GNAL | c.1353C= (p.His451=) c.1122C= (p.His374=) c.501C= (p.His167=) | |
18 | g.11881111C>G | CA401928413 | GNAL | c.1353C>G (p.His451Gln) c.1122C>G (p.His374Gln) c.501C>G (p.His167Gln) | |
18 | g.11881111C>T | CA502927846 | GNAL | c.1353C>T (p.His451=) c.1122C>T (p.His374=) c.501C>T (p.His167=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.11881112C>A | CA401928414 | GNAL | c.1354C>A (p.Leu452Ile) c.1123C>A (p.Leu375Ile) c.502C>A (p.Leu168Ile) | |
18 | g.11881112C>G | CA401928415 | GNAL | c.1354C>G (p.Leu452Val) c.1123C>G (p.Leu375Val) c.502C>G (p.Leu168Val) | |
18 | g.11881112C>T | CA401928416 | GNAL | c.1354C>T (p.Leu452Phe) c.1123C>T (p.Leu375Phe) c.502C>T (p.Leu168Phe) | |
18 | g.11881113T>A | CA401928417 | GNAL | c.1355T>A (p.Leu452His) c.1124T>A (p.Leu375His) c.503T>A (p.Leu168His) | gnomAD v4 |
18 | g.11881113T>C | CA401928419 | GNAL | c.1355T>C (p.Leu452Pro) c.1124T>C (p.Leu375Pro) c.503T>C (p.Leu168Pro) | |
18 | g.11881113T>G | CA401928418 | GNAL | c.1355T>G (p.Leu452Arg) c.1124T>G (p.Leu375Arg) c.503T>G (p.Leu168Arg) | |
18 | g.11881114C>A | CA502927848 | GNAL | c.1356C>A (p.Leu452=) c.1125C>A (p.Leu375=) c.504C>A (p.Leu168=) | |
18 | g.11881114C= | CA2284983296 | GNAL | c.1356C= (p.Leu452=) c.1125C= (p.Leu375=) c.504C= (p.Leu168=) | |
18 | g.11881114C>G | CA8894281 | GNAL | c.1356C>G (p.Leu452=) c.1125C>G (p.Leu375=) c.504C>G (p.Leu168=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.11881114C>T | CA502927849 | GNAL | c.1356C>T (p.Leu452=) c.1125C>T (p.Leu375=) c.504C>T (p.Leu168=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.11881115A= | CA2284983297 | GNAL | c.1357A= (p.Lys453=) c.1126A= (p.Lys376=) c.505A= (p.Lys169=) | |
18 | g.11881115A>C | CA401928422 | GNAL | c.1357A>C (p.Lys453Gln) c.1126A>C (p.Lys376Gln) c.505A>C (p.Lys169Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.11881115A>G | CA401928420 | GNAL | c.1357A>G (p.Lys453Glu) c.1126A>G (p.Lys376Glu) c.505A>G (p.Lys169Glu) | |
18 | g.11881115A>T | CA401928421 | GNAL | c.1357A>T (p.Lys453Ter) c.1126A>T (p.Lys376Ter) c.505A>T (p.Lys169Ter) | |
18 | g.11881115_11881132del | CA645600131 | GNAL | c.1357_1374del (p.Lys453_Leu458del) c.1126_1143del (p.Lys376_Leu381del) c.505_522del (p.Lys169_Leu174del) | COSMIC COSMIC |
18 | g.11881116A>C | CA401928423 | GNAL | c.1358A>C (p.Lys453Thr) c.1127A>C (p.Lys376Thr) c.506A>C (p.Lys169Thr) | |
18 | g.11881116A>G | CA401928424 | GNAL | c.1358A>G (p.Lys453Arg) c.1127A>G (p.Lys376Arg) c.506A>G (p.Lys169Arg) | gnomAD v4 |
18 | g.11881116A>T | CA401928425 | GNAL | c.1358A>T (p.Lys453Met) c.1127A>T (p.Lys376Met) c.506A>T (p.Lys169Met) | |
18 | g.11881117G>A | CA502927852 | GNAL | c.1359G>A (p.Lys453=) c.1128G>A (p.Lys376=) c.507G>A (p.Lys169=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.11881117G>C | CA401928426 | GNAL | c.1359G>C (p.Lys453Asn) c.1128G>C (p.Lys376Asn) c.507G>C (p.Lys169Asn) | |
18 | g.11881117G= | CA2284983298 | GNAL | c.1359G= (p.Lys453=) c.1128G= (p.Lys376=) c.507G= (p.Lys169=) | |
18 | g.11881117G>T | CA401928427 | GNAL | c.1359G>T (p.Lys453Asn) c.1128G>T (p.Lys376Asn) c.507G>T (p.Lys169Asn) | |
18 | g.11881118C>A | CA296058746 | GNAL | c.1360C>A (p.Gln454Lys) c.1129C>A (p.Gln377Lys) c.508C>A (p.Gln170Lys) | dbSNP gnomAD v4 |
18 | g.11881118C= | CA2284983299 | GNAL | c.1360C= (p.Gln454=) c.1129C= (p.Gln377=) c.508C= (p.Gln170=) | |
18 | g.11881118C>G | CA401928428 | GNAL | c.1360C>G (p.Gln454Glu) c.1129C>G (p.Gln377Glu) c.508C>G (p.Gln170Glu) | |
18 | g.11881118C>T | CA401928429 | GNAL | c.1360C>T (p.Gln454Ter) c.1129C>T (p.Gln377Ter) c.508C>T (p.Gln170Ter) | gnomAD v4 |
18 | g.11881119A>C | CA401928430 | GNAL | c.1361A>C (p.Gln454Pro) c.1130A>C (p.Gln377Pro) c.509A>C (p.Gln170Pro) | |
18 | g.11881119A>G | CA401928431 | GNAL | c.1361A>G (p.Gln454Arg) c.1130A>G (p.Gln377Arg) c.509A>G (p.Gln170Arg) | gnomAD v4 |
18 | g.11881119A>T | CA401928432 | GNAL | c.1361A>T (p.Gln454Leu) c.1130A>T (p.Gln377Leu) c.509A>T (p.Gln170Leu) | |
18 | g.11881120G>A | CA296058750 | GNAL | c.1362G>A (p.Gln454=) c.1131G>A (p.Gln377=) c.510G>A (p.Gln170=) | dbSNP gnomAD v4 |
18 | g.11881120G>C | CA401928433 | GNAL | c.1362G>C (p.Gln454His) c.1131G>C (p.Gln377His) c.510G>C (p.Gln170His) | |
18 | g.11881120G= | CA2284983300 | GNAL | c.1362G= (p.Gln454=) c.1131G= (p.Gln377=) c.510G= (p.Gln170=) | |
18 | g.11881120G>T | CA401928434 | GNAL | c.1362G>T (p.Gln454His) c.1131G>T (p.Gln377His) c.510G>T (p.Gln170His) | |
18 | g.11881121T>A | CA401928435 | GNAL | c.1363T>A (p.Tyr455Asn) c.1132T>A (p.Tyr378Asn) c.511T>A (p.Tyr171Asn) | |
18 | g.11881121T>C | CA401928436 | GNAL | c.1363T>C (p.Tyr455His) c.1132T>C (p.Tyr378His) c.511T>C (p.Tyr171His) | |
18 | g.11881121T>G | CA401928437 | GNAL | c.1363T>G (p.Tyr455Asp) c.1132T>G (p.Tyr378Asp) c.511T>G (p.Tyr171Asp) | |
18 | g.11881122A= | CA2284983301 | GNAL | c.1364A= (p.Tyr455=) c.1133A= (p.Tyr378=) c.512A= (p.Tyr171=) | |
18 | g.11881122A>C | CA401928438 | GNAL | c.1364A>C (p.Tyr455Ser) c.1133A>C (p.Tyr378Ser) c.512A>C (p.Tyr171Ser) | |
18 | g.11881122A>G | CA8894282 | GNAL | c.1364A>G (p.Tyr455Cys) c.1133A>G (p.Tyr378Cys) c.512A>G (p.Tyr171Cys) | dbSNP ExAC gnomAD v4 |
18 | g.11881122A>T | CA401928439 | GNAL | c.1364A>T (p.Tyr455Phe) c.1133A>T (p.Tyr378Phe) c.512A>T (p.Tyr171Phe) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.11881123T>A | CA401928440 | GNAL | c.1365T>A (p.Tyr455Ter) c.1134T>A (p.Tyr378Ter) c.513T>A (p.Tyr171Ter) | |
18 | g.11881123T>C | CA502927856 | GNAL | c.1365T>C (p.Tyr455=) c.1134T>C (p.Tyr378=) c.513T>C (p.Tyr171=) | dbSNP gnomAD v4 |
18 | g.11881123T>G | CA401928441 | GNAL | c.1365T>G (p.Tyr455Ter) c.1134T>G (p.Tyr378Ter) c.513T>G (p.Tyr171Ter) | gnomAD v4 |
18 | g.11881124G>A | CA401928442 | GNAL | c.1366G>A (p.Glu456Lys) c.1135G>A (p.Glu379Lys) c.514G>A (p.Glu172Lys) | |
18 | g.11881124G>C | CA401928443 | GNAL | c.1366G>C (p.Glu456Gln) c.1135G>C (p.Glu379Gln) c.514G>C (p.Glu172Gln) | dbSNP |
18 | g.11881124G= | CA2284983302 | GNAL | c.1366G= (p.Glu456=) c.1135G= (p.Glu379=) c.514G= (p.Glu172=) | |
18 | g.11881124G>T | CA401928444 | GNAL | c.1366G>T (p.Glu456Ter) c.1135G>T (p.Glu379Ter) c.514G>T (p.Glu172Ter) | gnomAD v4 |
18 | g.11881124_11881125insCACTGCACTCCAGCCTGGGCAACAGAGCTAGACTCAGTCTCAAAAATATATAAATAAACAAACAAAATA | CA2641033643 | GNAL | c.1366_1367insCACTGCACTCCAGCCTGGGCAACAGAGCTAGACTCAGTCTCAAAAATATATAAATAAACAAACAAAATA (p.Glu456AlafsTer18) c.1135_1136insCACTGCACTCCAGCCTGGGCAACAGAGCTAGACTCAGTCTCAAAAATATATAAATAAACAAACAAAATA (p.Glu379AlafsTer18) c.514_515insCACTGCACTCCAGCCTGGGCAACAGAGCTAGACTCAGTCTCAAAAATATATAAATAAACAAACAAAATA (p.Glu172AlafsTer18) | gnomAD v4 |
18 | g.11881125A>C | CA401928447 | GNAL | c.1367A>C (p.Glu456Ala) c.1136A>C (p.Glu379Ala) c.515A>C (p.Glu172Ala) | gnomAD v4 |
18 | g.11881125A>G | CA401928446 | GNAL | c.1367A>G (p.Glu456Gly) c.1136A>G (p.Glu379Gly) c.515A>G (p.Glu172Gly) | gnomAD v4 |
18 | g.11881125A>T | CA401928445 | GNAL | c.1367A>T (p.Glu456Val) c.1136A>T (p.Glu379Val) c.515A>T (p.Glu172Val) | |
18 | g.11881126G>A | CA502927857 | GNAL | c.1368G>A (p.Glu456=) c.1137G>A (p.Glu379=) c.516G>A (p.Glu172=) | |
18 | g.11881126G>C | CA401928448 | GNAL | c.1368G>C (p.Glu456Asp) c.1137G>C (p.Glu379Asp) c.516G>C (p.Glu172Asp) | |
18 | g.11881126G>T | CA401928449 | GNAL | c.1368G>T (p.Glu456Asp) c.1137G>T (p.Glu379Asp) c.516G>T (p.Glu172Asp) | gnomAD v4 |
18 | g.11881127C>A | CA401928450 | GNAL | c.1369C>A (p.Leu457Ile) c.1138C>A (p.Leu380Ile) c.517C>A (p.Leu173Ile) | |
18 | g.11881127C>G | CA401928451 | GNAL | c.1369C>G (p.Leu457Val) c.1138C>G (p.Leu380Val) c.517C>G (p.Leu173Val) | |
18 | g.11881127C>T | CA401928452 | GNAL | c.1369C>T (p.Leu457Phe) c.1138C>T (p.Leu380Phe) c.517C>T (p.Leu173Phe) | gnomAD v4 |
18 | g.11881128T>A | CA401928453 | GNAL | c.1370T>A (p.Leu457His) c.1139T>A (p.Leu380His) c.518T>A (p.Leu173His) | |
18 | g.11881128T>C | CA401928454 | GNAL | c.1370T>C (p.Leu457Pro) c.1139T>C (p.Leu380Pro) c.518T>C (p.Leu173Pro) | |
18 | g.11881128T>G | CA401928455 | GNAL | c.1370T>G (p.Leu457Arg) c.1139T>G (p.Leu380Arg) c.518T>G (p.Leu173Arg) | ClinVar |
18 | g.11881129C>A | CA8894283 | GNAL | c.1371C>A (p.Leu457=) c.1140C>A (p.Leu380=) c.519C>A (p.Leu173=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.11881129C= | CA2284983303 | GNAL | c.1371C= (p.Leu457=) c.1140C= (p.Leu380=) c.519C= (p.Leu173=) | |
18 | g.11881129C>G | CA502927858 | GNAL | c.1371C>G (p.Leu457=) c.1140C>G (p.Leu380=) c.519C>G (p.Leu173=) | gnomAD v4 |
18 | g.11881129C>T | CA502927859 | GNAL | c.1371C>T (p.Leu457=) c.1140C>T (p.Leu380=) c.519C>T (p.Leu173=) | |
18 | g.11881130T>A | CA401928456 | GNAL | c.1372T>A (p.Leu458Met) c.1141T>A (p.Leu381Met) c.520T>A (p.Leu174Met) | |
18 | g.11881130T>C | CA502927861 | GNAL | c.1372T>C (p.Leu458=) c.1141T>C (p.Leu381=) c.520T>C (p.Leu174=) | gnomAD v4 |
18 | g.11881130T>G | CA401928457 | GNAL | c.1372T>G (p.Leu458Val) c.1141T>G (p.Leu381Val) c.520T>G (p.Leu174Val) | |
18 | g.11881131T>A | CA401928458 | GNAL | c.1373T>A (p.Leu458Ter) c.1142T>A (p.Leu381Ter) c.521T>A (p.Leu174Ter) | |
18 | g.11881131T>C | CA401928459 | GNAL | c.1373T>C (p.Leu458Ser) c.1142T>C (p.Leu381Ser) c.521T>C (p.Leu174Ser) | |
18 | g.11881131T>G | CA401928460 | GNAL | c.1373T>G (p.Leu458Trp) c.1142T>G (p.Leu381Trp) c.521T>G (p.Leu174Trp) | |
18 | g.11881132G>A | CA502927864 | GNAL | c.1374G>A (p.Leu458=) c.1143G>A (p.Leu381=) c.522G>A (p.Leu174=) | |
18 | g.11881132G>C | CA8894284 | GNAL | c.1374G>C (p.Leu458Phe) c.1143G>C (p.Leu381Phe) c.522G>C (p.Leu174Phe) | dbSNP ExAC gnomAD v3 gnomAD v4 |
18 | g.11881132G= | CA2284983304 | GNAL | c.1374G= (p.Leu458=) c.1143G= (p.Leu381=) c.522G= (p.Leu174=) | |
18 | g.11881132G>T | CA401928461 | GNAL | c.1374G>T (p.Leu458Phe) c.1143G>T (p.Leu381Phe) c.522G>T (p.Leu174Phe) | gnomAD v4 |
18 | g.11881133T>A | CA401928462 | GNAL | c.1375T>A (p.Ter459Arg) c.1144T>A (p.Ter382Arg) c.523T>A (p.Ter175Arg) | |
18 | g.11881133T>C | CA401928463 | GNAL | c.1375T>C (p.Ter459Arg) c.1144T>C (p.Ter382Arg) c.523T>C (p.Ter175Arg) | |
18 | g.11881133T>G | CA401928464 | GNAL | c.1375T>G (p.Ter459Gly) c.1144T>G (p.Ter382Gly) c.523T>G (p.Ter175Gly) | |
18 | g.11881134G>A | CA502927866 | GNAL | c.1376G>A (p.Ter459=) c.1145G>A (p.Ter382=) c.524G>A (p.Ter175=) | dbSNP gnomAD v2 |
18 | g.11881134G>C | CA401928465 | GNAL | c.1376G>C (p.Ter459Ser) c.1145G>C (p.Ter382Ser) c.524G>C (p.Ter175Ser) | |
18 | g.11881134G= | CA2284983305 | GNAL | c.1376G= (p.Ter459=) c.1145G= (p.Ter382=) c.524G= (p.Ter175=) | |
18 | g.11881134G>T | CA401928466 | GNAL | c.1376G>T (p.Ter459Leu) c.1145G>T (p.Ter382Leu) c.524G>T (p.Ter175Leu) | gnomAD v4 |
18 | g.11881135A>C | CA401928467 | GNAL | c.1377A>C (p.Ter459Cys) c.1146A>C (p.Ter382Cys) c.525A>C (p.Ter175Cys) | |
18 | g.11881135A>G | CA401928468 | GNAL | c.1377A>G (p.Ter459Trp) c.1146A>G (p.Ter382Trp) c.525A>G (p.Ter175Trp) | |
18 | g.11881135A>T | CA401928469 | GNAL | c.1377A>T (p.Ter459Cys) c.1146A>T (p.Ter382Cys) c.525A>T (p.Ter175Cys) | |
18 | g.11881136G>A | CA2576457634 | GNAL | c.*1G>A (n.*1G>A) | |
18 | g.11881136G>T | CA2641033644 | GNAL | c.*1G>T (n.*1G>T) | gnomAD v4 |
18 | g.11881137G>A | CA2284983307 | GNAL | c.*2G>A (n.*2G>A) | dbSNP gnomAD v4 |
18 | g.11881137G= | CA2284983306 | GNAL | c.*2G= (n.*2G=) | |
18 | g.11881137G>T | CA8894285 | GNAL | c.*2G>T (n.*2G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.11881138A= | CA2284983308 | GNAL | c.*3A= (n.*3A=) | |
18 | g.11881138A>T | CA8894286 | GNAL | c.*3A>T (n.*3A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.11881140G>A | CA987867246 | GNAL | c.*5G>A (n.*5G>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.11881140G= | CA2284983309 | GNAL | c.*5G= (n.*5G=) | |
18 | g.11881140G>T | CA2641033645 | GNAL | c.*5G>T (n.*5G>T) | gnomAD v4 |
18 | g.11881141C>A | CA2641033646 | GNAL | c.*6C>A (n.*6C>A) | gnomAD v4 |
18 | g.11881141C= | CA2284983310 | GNAL | c.*6C= (n.*6C=) | |
18 | g.11881141C>T | CA2284983311 | GNAL | c.*6C>T (n.*6C>T) | dbSNP gnomAD v4 |
18 | g.11881142T>C | CA2641033647 | GNAL | c.*7T>C (n.*7T>C) | gnomAD v4 |
18 | g.11881143G>A | CA2284983313 | GNAL | c.*8G>A (n.*8G>A) | dbSNP gnomAD v4 |
18 | g.11881143G>C | CA8894287 | GNAL | c.*8G>C (n.*8G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.11881143G= | CA2284983312 | GNAL | c.*8G= (n.*8G=) | |
18 | g.11881144C>A | CA2641033648 | GNAL | c.*9C>A (n.*9C>A) | gnomAD v4 |
18 | g.11881144C>T | CA2641033649 | GNAL | c.*9C>T (n.*9C>T) | gnomAD v4 |
18 | g.11881145C>A | CA2641033650 | GNAL | c.*10C>A (n.*10C>A) | gnomAD v4 |
18 | g.11881145C= | CA2284983314 | GNAL | c.*10C= (n.*10C=) | |
18 | g.11881145C>T | CA296058777 | GNAL | c.*10C>T (n.*10C>T) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.11881146G>A | CA8894288 | GNAL | c.*11G>A (n.*11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.11881146G= | CA2284983315 | GNAL | c.*11G= (n.*11G=) | |
18 | g.11881146G>T | CA2641033651 | GNAL | c.*11G>T (n.*11G>T) | gnomAD v4 |
18 | g.11881147C= | CA2284983316 | GNAL | c.*12C= (n.*12C=) | |
18 | g.11881147C>T | CA628206107 | GNAL | c.*12C>T (n.*12C>T) | dbSNP gnomAD v2 |
18 | g.11881149_11881151del | CA2641033652 | GNAL | c.*14_*16del (n.*14_*16del) | gnomAD v4 |
18 | g.11881148C>A | CA2576457635 | GNAL | c.*13C>A (n.*13C>A) | gnomAD v4 |
18 | g.11881148C= | CA2284983317 | GNAL | c.*13C= (n.*13C=) | |
18 | g.11881148C>T | CA628206110 | GNAL | c.*13C>T (n.*13C>T) | dbSNP gnomAD v2 COSMIC |
18 | g.11881149A= | CA2284983318 | GNAL | c.*14A= (n.*14A=) | |
18 | g.11881149A>C | CA2284983319 | GNAL | c.*14A>C (n.*14A>C) | dbSNP |
18 | g.11881149A>G | CA657185014 | GNAL | c.*14A>G (n.*14A>G) | COSMIC |
18 | g.11881150C= | CA2284983320 | GNAL | c.*15C= (n.*15C=) | |
18 | g.11881150C>T | CA296058786 | GNAL | c.*15C>T (n.*15C>T) | dbSNP |
18 | g.11881152del | CA2641033653 | GNAL | c.*17del (n.*17del) | gnomAD v4 |
18 | g.11881152C>A | CA2641033654 | GNAL | c.*17C>A (n.*17C>A) | gnomAD v4 |
18 | g.11881152C>G | CA2810989394 | GNAL | c.*17C>G (n.*17C>G) | |
18 | g.11881153T>C | CA2576457636 | GNAL | c.*18T>C (n.*18T>C) | gnomAD v4 |
18 | g.11881154G>A | CA2576457637 | GNAL | c.*19G>A (n.*19G>A) | gnomAD v4 |
18 | g.11881154G>T | CA2641033655 | GNAL | c.*19G>T (n.*19G>T) | gnomAD v4 |
18 | g.11881155C>A | CA2641033656 | GNAL | c.*20C>A (n.*20C>A) | gnomAD v4 |
18 | g.11881155C= | CA2284983321 | GNAL | c.*20C= (n.*20C=) | |
18 | g.11881155C>T | CA8894289 | GNAL | c.*20C>T (n.*20C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.11881156G>A | CA296058802 | GNAL | c.*21G>A (n.*21G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.11881156G= | CA2284983322 | GNAL | c.*21G= (n.*21G=) | |
18 | g.11881156G>T | CA2641033657 | GNAL | c.*21G>T (n.*21G>T) | gnomAD v4 |