Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.38351493T>A | CA490012345 | SPRED1 | c.1164T>A (p.Ser388=) c.1200T>A (p.Ser400=) c.942T>A (p.Ser314=) c.1101T>A (p.Ser367=) | |
15 | g.38351493T>C | CA490012347 | SPRED1 | c.1164T>C (p.Ser388=) c.1200T>C (p.Ser400=) c.942T>C (p.Ser314=) c.1101T>C (p.Ser367=) | |
15 | g.38351493T>G | CA490012343 | SPRED1 | c.1164T>G (p.Ser388=) c.1200T>G (p.Ser400=) c.942T>G (p.Ser314=) c.1101T>G (p.Ser367=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351493T= | CA2170812731 | SPRED1 | c.1164T= (p.Ser388=) c.1200T= (p.Ser400=) c.942T= (p.Ser314=) c.1101T= (p.Ser367=) | |
15 | g.38351494G>A | CA391934393 | SPRED1 | c.1165G>A (p.Asp389Asn) c.1201G>A (p.Asp401Asn) c.943G>A (p.Asp315Asn) c.1102G>A (p.Asp368Asn) | |
15 | g.38351494G>C | CA269293460 | SPRED1 | c.1165G>C (p.Asp389His) c.1201G>C (p.Asp401His) c.943G>C (p.Asp315His) c.1102G>C (p.Asp368His) | dbSNP gnomAD v4 |
15 | g.38351494G= | CA2170812732 | SPRED1 | c.1165G= (p.Asp389=) c.1201G= (p.Asp401=) c.943G= (p.Asp315=) c.1102G= (p.Asp368=) | |
15 | g.38351494G>T | CA391934395 | SPRED1 | c.1165G>T (p.Asp389Tyr) c.1201G>T (p.Asp401Tyr) c.943G>T (p.Asp315Tyr) c.1102G>T (p.Asp368Tyr) | COSMIC |
15 | g.38351495A>C | CA391934397 | SPRED1 | c.1166A>C (p.Asp389Ala) c.1202A>C (p.Asp401Ala) c.944A>C (p.Asp315Ala) c.1103A>C (p.Asp368Ala) | |
15 | g.38351495A>G | CA391934400 | SPRED1 | c.1166A>G (p.Asp389Gly) c.1202A>G (p.Asp401Gly) c.944A>G (p.Asp315Gly) c.1103A>G (p.Asp368Gly) | |
15 | g.38351495A>T | CA391934399 | SPRED1 | c.1166A>T (p.Asp389Val) c.1202A>T (p.Asp401Val) c.944A>T (p.Asp315Val) c.1103A>T (p.Asp368Val) | |
15 | g.38351496T>A | CA391934402 | SPRED1 | c.1167T>A (p.Asp389Glu) c.1203T>A (p.Asp401Glu) c.945T>A (p.Asp315Glu) c.1104T>A (p.Asp368Glu) | |
15 | g.38351496T>C | CA490012353 | SPRED1 | c.1167T>C (p.Asp389=) c.1203T>C (p.Asp401=) c.945T>C (p.Asp315=) c.1104T>C (p.Asp368=) | |
15 | g.38351496T>G | CA391934403 | SPRED1 | c.1167T>G (p.Asp389Glu) c.1203T>G (p.Asp401Glu) c.945T>G (p.Asp315Glu) c.1104T>G (p.Asp368Glu) | |
15 | g.38351497C>A | CA391934404 | SPRED1 | c.1168C>A (p.Pro390Thr) c.1204C>A (p.Pro402Thr) c.946C>A (p.Pro316Thr) c.1105C>A (p.Pro369Thr) | |
15 | g.38351497C>G | CA391934406 | SPRED1 | c.1168C>G (p.Pro390Ala) c.1204C>G (p.Pro402Ala) c.946C>G (p.Pro316Ala) c.1105C>G (p.Pro369Ala) | |
15 | g.38351497C>T | CA391934408 | SPRED1 | c.1168C>T (p.Pro390Ser) c.1204C>T (p.Pro402Ser) c.946C>T (p.Pro316Ser) c.1105C>T (p.Pro369Ser) | |
15 | g.38351499del | CA2627716213 | SPRED1 | c.1170del (p.Cys391ValfsTer15) c.1206del (p.Cys403ValfsTer15) c.948del (p.Cys317ValfsTer15) c.1107del (p.Cys370ValfsTer15) | gnomAD v4 |
15 | g.38351498C>A | CA391934410 | SPRED1 | c.1169C>A (p.Pro390His) c.1205C>A (p.Pro402His) c.947C>A (p.Pro316His) c.1106C>A (p.Pro369His) | |
15 | g.38351498C>G | CA391934411 | SPRED1 | c.1169C>G (p.Pro390Arg) c.1205C>G (p.Pro402Arg) c.947C>G (p.Pro316Arg) c.1106C>G (p.Pro369Arg) | |
15 | g.38351498C>T | CA391934413 | SPRED1 | c.1169C>T (p.Pro390Leu) c.1205C>T (p.Pro402Leu) c.947C>T (p.Pro316Leu) c.1106C>T (p.Pro369Leu) | |
15 | g.38351499C>A | CA490012498 | SPRED1 | c.1170C>A (p.Pro390=) c.1206C>A (p.Pro402=) c.948C>A (p.Pro316=) c.1107C>A (p.Pro369=) | |
15 | g.38351499C= | CA2170812733 | SPRED1 | c.1170C= (p.Pro390=) c.1206C= (p.Pro402=) c.948C= (p.Pro316=) c.1107C= (p.Pro369=) | |
15 | g.38351499C>G | CA490012499 | SPRED1 | c.1170C>G (p.Pro390=) c.1206C>G (p.Pro402=) c.948C>G (p.Pro316=) c.1107C>G (p.Pro369=) | ClinVar dbSNP |
15 | g.38351499C>T | CA7470236 | SPRED1 | c.1170C>T (p.Pro390=) c.1206C>T (p.Pro402=) c.948C>T (p.Pro316=) c.1107C>T (p.Pro369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351500T>A | CA391934417 | SPRED1 | c.1171T>A (p.Cys391Ser) c.1207T>A (p.Cys403Ser) c.949T>A (p.Cys317Ser) c.1108T>A (p.Cys370Ser) | |
15 | g.38351500T>C | CA391934418 | SPRED1 | c.1171T>C (p.Cys391Arg) c.1207T>C (p.Cys403Arg) c.949T>C (p.Cys317Arg) c.1108T>C (p.Cys370Arg) | |
15 | g.38351500T>G | CA391934416 | SPRED1 | c.1171T>G (p.Cys391Gly) c.1207T>G (p.Cys403Gly) c.949T>G (p.Cys317Gly) c.1108T>G (p.Cys370Gly) | |
15 | g.38351501G>A | CA391934420 | SPRED1 | c.1172G>A (p.Cys391Tyr) c.1208G>A (p.Cys403Tyr) c.950G>A (p.Cys317Tyr) c.1109G>A (p.Cys370Tyr) | |
15 | g.38351501G>C | CA391934421 | SPRED1 | c.1172G>C (p.Cys391Ser) c.1208G>C (p.Cys403Ser) c.950G>C (p.Cys317Ser) c.1109G>C (p.Cys370Ser) | ClinVar |
15 | g.38351501G>T | CA391934422 | SPRED1 | c.1172G>T (p.Cys391Phe) c.1208G>T (p.Cys403Phe) c.950G>T (p.Cys317Phe) c.1109G>T (p.Cys370Phe) | |
15 | g.38351502T>A | CA391934424 | SPRED1 | c.1173T>A (p.Cys391Ter) c.1209T>A (p.Cys403Ter) c.951T>A (p.Cys317Ter) c.1110T>A (p.Cys370Ter) | |
15 | g.38351502T>C | CA490012500 | SPRED1 | c.1173T>C (p.Cys391=) c.1209T>C (p.Cys403=) c.951T>C (p.Cys317=) c.1110T>C (p.Cys370=) | |
15 | g.38351502T>G | CA391934426 | SPRED1 | c.1173T>G (p.Cys391Trp) c.1209T>G (p.Cys403Trp) c.951T>G (p.Cys317Trp) c.1110T>G (p.Cys370Trp) | |
15 | g.38351503T>A | CA391934427 | SPRED1 | c.1174T>A (p.Ser392Thr) c.1210T>A (p.Ser404Thr) c.952T>A (p.Ser318Thr) c.1111T>A (p.Ser371Thr) | |
15 | g.38351503T>C | CA391934429 | SPRED1 | c.1174T>C (p.Ser392Pro) c.1210T>C (p.Ser404Pro) c.952T>C (p.Ser318Pro) c.1111T>C (p.Ser371Pro) | |
15 | g.38351503T>G | CA391934431 | SPRED1 | c.1174T>G (p.Ser392Ala) c.1210T>G (p.Ser404Ala) c.952T>G (p.Ser318Ala) c.1111T>G (p.Ser371Ala) | |
15 | g.38351504C>A | CA391934432 | SPRED1 | c.1175C>A (p.Ser392Ter) c.1211C>A (p.Ser404Ter) c.953C>A (p.Ser318Ter) c.1112C>A (p.Ser371Ter) | ClinVar dbSNP |
15 | g.38351504C= | CA2170812734 | SPRED1 | c.1175C= (p.Ser392=) c.1211C= (p.Ser404=) c.953C= (p.Ser318=) c.1112C= (p.Ser371=) | |
15 | g.38351504C>G | CA391934433 | SPRED1 | c.1175C>G (p.Ser392Trp) c.1211C>G (p.Ser404Trp) c.953C>G (p.Ser318Trp) c.1112C>G (p.Ser371Trp) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351504C>T | CA391934435 | SPRED1 | c.1175C>T (p.Ser392Leu) c.1211C>T (p.Ser404Leu) c.953C>T (p.Ser318Leu) c.1112C>T (p.Ser371Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.38351505G>A | CA7470237 | SPRED1 | c.1176G>A (p.Ser392=) c.1212G>A (p.Ser404=) c.954G>A (p.Ser318=) c.1113G>A (p.Ser371=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351505G>C | CA490012504 | SPRED1 | c.1176G>C (p.Ser392=) c.1212G>C (p.Ser404=) c.954G>C (p.Ser318=) c.1113G>C (p.Ser371=) | gnomAD v4 |
15 | g.38351505G= | CA2170812735 | SPRED1 | c.1176G= (p.Ser392=) c.1212G= (p.Ser404=) c.954G= (p.Ser318=) c.1113G= (p.Ser371=) | |
15 | g.38351505G>T | CA490012505 | SPRED1 | c.1176G>T (p.Ser392=) c.1212G>T (p.Ser404=) c.954G>T (p.Ser318=) c.1113G>T (p.Ser371=) | |
15 | g.38351506T>A | CA391934440 | SPRED1 | c.1177T>A (p.Cys393Ser) c.1213T>A (p.Cys405Ser) c.955T>A (p.Cys319Ser) c.1114T>A (p.Cys372Ser) | |
15 | g.38351506T>C | CA391934438 | SPRED1 | c.1177T>C (p.Cys393Arg) c.1213T>C (p.Cys405Arg) c.955T>C (p.Cys319Arg) c.1114T>C (p.Cys372Arg) | |
15 | g.38351506T>G | CA391934439 | SPRED1 | c.1177T>G (p.Cys393Gly) c.1213T>G (p.Cys405Gly) c.955T>G (p.Cys319Gly) c.1114T>G (p.Cys372Gly) | |
15 | g.38351507G>A | CA391934442 | SPRED1 | c.1178G>A (p.Cys393Tyr) c.1214G>A (p.Cys405Tyr) c.956G>A (p.Cys319Tyr) c.1115G>A (p.Cys372Tyr) | |
15 | g.38351507G>C | CA391934444 | SPRED1 | c.1178G>C (p.Cys393Ser) c.1214G>C (p.Cys405Ser) c.956G>C (p.Cys319Ser) c.1115G>C (p.Cys372Ser) | |
15 | g.38351507G= | CA2170812736 | SPRED1 | c.1178G= (p.Cys393=) c.1214G= (p.Cys405=) c.956G= (p.Cys319=) c.1115G= (p.Cys372=) | |
15 | g.38351507G>T | CA391934445 | SPRED1 | c.1178G>T (p.Cys393Phe) c.1214G>T (p.Cys405Phe) c.956G>T (p.Cys319Phe) c.1115G>T (p.Cys372Phe) | dbSNP gnomAD v2 |
15 | g.38351508T>A | CA391934446 | SPRED1 | c.1179T>A (p.Cys393Ter) c.1215T>A (p.Cys405Ter) c.957T>A (p.Cys319Ter) c.1116T>A (p.Cys372Ter) | |
15 | g.38351508T>C | CA490012509 | SPRED1 | c.1179T>C (p.Cys393=) c.1215T>C (p.Cys405=) c.957T>C (p.Cys319=) c.1116T>C (p.Cys372=) | |
15 | g.38351508T>G | CA391934447 | SPRED1 | c.1179T>G (p.Cys393Trp) c.1215T>G (p.Cys405Trp) c.957T>G (p.Cys319Trp) c.1116T>G (p.Cys372Trp) | |
15 | g.38351509G>A | CA391934450 | SPRED1 | c.1180G>A (p.Asp394Asn) c.1216G>A (p.Asp406Asn) c.958G>A (p.Asp320Asn) c.1117G>A (p.Asp373Asn) | |
15 | g.38351509G>C | CA391934451 | SPRED1 | c.1180G>C (p.Asp394His) c.1216G>C (p.Asp406His) c.958G>C (p.Asp320His) c.1117G>C (p.Asp373His) | |
15 | g.38351509G= | CA2170812737 | SPRED1 | c.1180G= (p.Asp394=) c.1216G= (p.Asp406=) c.958G= (p.Asp320=) c.1117G= (p.Asp373=) | |
15 | g.38351509G>T | CA269293461 | SPRED1 | c.1180G>T (p.Asp394Tyr) c.1216G>T (p.Asp406Tyr) c.958G>T (p.Asp320Tyr) c.1117G>T (p.Asp373Tyr) | dbSNP |
15 | g.38351510A= | CA2170812738 | SPRED1 | c.1181A= (p.Asp394=) c.1217A= (p.Asp406=) c.959A= (p.Asp320=) c.1118A= (p.Asp373=) | |
15 | g.38351510A>C | CA391934454 | SPRED1 | c.1181A>C (p.Asp394Ala) c.1217A>C (p.Asp406Ala) c.959A>C (p.Asp320Ala) c.1118A>C (p.Asp373Ala) | |
15 | g.38351510A>G | CA391934456 | SPRED1 | c.1181A>G (p.Asp394Gly) c.1217A>G (p.Asp406Gly) c.959A>G (p.Asp320Gly) c.1118A>G (p.Asp373Gly) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351510A>T | CA391934457 | SPRED1 | c.1181A>T (p.Asp394Val) c.1217A>T (p.Asp406Val) c.959A>T (p.Asp320Val) c.1118A>T (p.Asp373Val) | |
15 | g.38351511C>A | CA391934459 | SPRED1 | c.1182C>A (p.Asp394Glu) c.1218C>A (p.Asp406Glu) c.960C>A (p.Asp320Glu) c.1119C>A (p.Asp373Glu) | |
15 | g.38351511C>G | CA391934461 | SPRED1 | c.1182C>G (p.Asp394Glu) c.1218C>G (p.Asp406Glu) c.960C>G (p.Asp320Glu) c.1119C>G (p.Asp373Glu) | |
15 | g.38351511C>T | CA490012511 | SPRED1 | c.1182C>T (p.Asp394=) c.1218C>T (p.Asp406=) c.960C>T (p.Asp320=) c.1119C>T (p.Asp373=) | |
15 | g.38351512A>C | CA391934464 | SPRED1 | c.1183A>C (p.Thr395Pro) c.1219A>C (p.Thr407Pro) c.961A>C (p.Thr321Pro) c.1120A>C (p.Thr374Pro) | gnomAD v4 |
15 | g.38351512A>G | CA391934465 | SPRED1 | c.1183A>G (p.Thr395Ala) c.1219A>G (p.Thr407Ala) c.961A>G (p.Thr321Ala) c.1120A>G (p.Thr374Ala) | |
15 | g.38351512A>T | CA391934463 | SPRED1 | c.1183A>T (p.Thr395Ser) c.1219A>T (p.Thr407Ser) c.961A>T (p.Thr321Ser) c.1120A>T (p.Thr374Ser) | |
15 | g.38351513C>A | CA391934467 | SPRED1 | c.1184C>A (p.Thr395Asn) c.1220C>A (p.Thr407Asn) c.962C>A (p.Thr321Asn) c.1121C>A (p.Thr374Asn) | |
15 | g.38351513C= | CA2170812739 | SPRED1 | c.1184C= (p.Thr395=) c.1220C= (p.Thr407=) c.962C= (p.Thr321=) c.1121C= (p.Thr374=) | |
15 | g.38351513C>G | CA269293462 | SPRED1 | c.1184C>G (p.Thr395Ser) c.1220C>G (p.Thr407Ser) c.962C>G (p.Thr321Ser) c.1121C>G (p.Thr374Ser) | dbSNP gnomAD v4 |
15 | g.38351513C>T | CA391934470 | SPRED1 | c.1184C>T (p.Thr395Ile) c.1220C>T (p.Thr407Ile) c.962C>T (p.Thr321Ile) c.1121C>T (p.Thr374Ile) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351514T>A | CA490012517 | SPRED1 | c.1185T>A (p.Thr395=) c.1221T>A (p.Thr407=) c.963T>A (p.Thr321=) c.1122T>A (p.Thr374=) | |
15 | g.38351514T>C | CA490012516 | SPRED1 | c.1185T>C (p.Thr395=) c.1221T>C (p.Thr407=) c.963T>C (p.Thr321=) c.1122T>C (p.Thr374=) | ClinVar gnomAD v4 |
15 | g.38351514T>G | CA490012515 | SPRED1 | c.1185T>G (p.Thr395=) c.1221T>G (p.Thr407=) c.963T>G (p.Thr321=) c.1122T>G (p.Thr374=) | ClinVar dbSNP |
15 | g.38351514T= | CA2170812740 | SPRED1 | c.1185T= (p.Thr395=) c.1221T= (p.Thr407=) c.963T= (p.Thr321=) c.1122T= (p.Thr374=) | |
15 | g.38351515A= | CA2170812741 | SPRED1 | c.1186A= (p.Ser396=) c.1222A= (p.Ser408=) c.964A= (p.Ser322=) c.1123A= (p.Ser375=) | |
15 | g.38351515A>C | CA391934471 | SPRED1 | c.1186A>C (p.Ser396Arg) c.1222A>C (p.Ser408Arg) c.964A>C (p.Ser322Arg) c.1123A>C (p.Ser375Arg) | |
15 | g.38351515A>G | CA7470238 | SPRED1 | c.1186A>G (p.Ser396Gly) c.1222A>G (p.Ser408Gly) c.964A>G (p.Ser322Gly) c.1123A>G (p.Ser375Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351515A>T | CA391934473 | SPRED1 | c.1186A>T (p.Ser396Cys) c.1222A>T (p.Ser408Cys) c.964A>T (p.Ser322Cys) c.1123A>T (p.Ser375Cys) | |
15 | g.38351516G>A | CA391934477 | SPRED1 | c.1187G>A (p.Ser396Asn) c.1223G>A (p.Ser408Asn) c.965G>A (p.Ser322Asn) c.1124G>A (p.Ser375Asn) | |
15 | g.38351516G>C | CA391934474 | SPRED1 | c.1187G>C (p.Ser396Thr) c.1223G>C (p.Ser408Thr) c.965G>C (p.Ser322Thr) c.1124G>C (p.Ser375Thr) | |
15 | g.38351516G>T | CA391934475 | SPRED1 | c.1187G>T (p.Ser396Ile) c.1223G>T (p.Ser408Ile) c.965G>T (p.Ser322Ile) c.1124G>T (p.Ser375Ile) | |
15 | g.38351516_38351519delinsGCGA | CA2170812742 | SPRED1 | c.1187_1190delinsGCGA (p.Ser396=) c.1223_1226delinsGCGA (p.Ser408=) c.965_968delinsGCGA (p.Ser322=) c.1124_1127delinsGCGA (p.Ser375=) | |
15 | g.38351517C>A | CA391934478 | SPRED1 | c.1188C>A (p.Ser396Arg) c.1224C>A (p.Ser408Arg) c.966C>A (p.Ser322Arg) c.1125C>A (p.Ser375Arg) | |
15 | g.38351517C= | CA2170812743 | SPRED1 | c.1188C= (p.Ser396=) c.1224C= (p.Ser408=) c.966C= (p.Ser322=) c.1125C= (p.Ser375=) | |
15 | g.38351517C>G | CA391934480 | SPRED1 | c.1188C>G (p.Ser396Arg) c.1224C>G (p.Ser408Arg) c.966C>G (p.Ser322Arg) c.1125C>G (p.Ser375Arg) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351517C>T | CA7470239 | SPRED1 | c.1188C>T (p.Ser396=) c.1224C>T (p.Ser408=) c.966C>T (p.Ser322=) c.1125C>T (p.Ser375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.38351521_38351523del | CA645591365 | SPRED1 | c.1192_1194del (p.Asp398del) c.1228_1230del (p.Asp410del) c.970_972del (p.Asp324del) c.1129_1131del (p.Asp377del) | dbSNP gnomAD v4 COSMIC |
15 | g.38351518G>A | CA391934482 | SPRED1 | c.1189G>A (p.Asp397Asn) c.1225G>A (p.Asp409Asn) c.967G>A (p.Asp323Asn) c.1126G>A (p.Asp376Asn) | ClinVar dbSNP gnomAD v4 |
15 | g.38351518G>C | CA391934483 | SPRED1 | c.1189G>C (p.Asp397His) c.1225G>C (p.Asp409His) c.967G>C (p.Asp323His) c.1126G>C (p.Asp376His) | |
15 | g.38351518G= | CA2170812744 | SPRED1 | c.1189G= (p.Asp397=) c.1225G= (p.Asp409=) c.967G= (p.Asp323=) c.1126G= (p.Asp376=) | |
15 | g.38351518G>T | CA391934486 | SPRED1 | c.1189G>T (p.Asp397Tyr) c.1225G>T (p.Asp409Tyr) c.967G>T (p.Asp323Tyr) c.1126G>T (p.Asp376Tyr) | |
15 | g.38351519A>C | CA391934487 | SPRED1 | c.1190A>C (p.Asp397Ala) c.1226A>C (p.Asp409Ala) c.968A>C (p.Asp323Ala) c.1127A>C (p.Asp376Ala) | |
15 | g.38351519A>G | CA391934489 | SPRED1 | c.1190A>G (p.Asp397Gly) c.1226A>G (p.Asp409Gly) c.968A>G (p.Asp323Gly) c.1127A>G (p.Asp376Gly) | ClinVar |
15 | g.38351519A>T | CA391934488 | SPRED1 | c.1190A>T (p.Asp397Val) c.1226A>T (p.Asp409Val) c.968A>T (p.Asp323Val) c.1127A>T (p.Asp376Val) | gnomAD v4 |
15 | g.38351520C>A | CA391934490 | SPRED1 | c.1191C>A (p.Asp397Glu) c.1227C>A (p.Asp409Glu) c.969C>A (p.Asp323Glu) c.1128C>A (p.Asp376Glu) | |
15 | g.38351520C= | CA2170812745 | SPRED1 | c.1191C= (p.Asp397=) c.1227C= (p.Asp409=) c.969C= (p.Asp323=) c.1128C= (p.Asp376=) | |
15 | g.38351520C>G | CA391934491 | SPRED1 | c.1191C>G (p.Asp397Glu) c.1227C>G (p.Asp409Glu) c.969C>G (p.Asp323Glu) c.1128C>G (p.Asp376Glu) | |
15 | g.38351520C>T | CA7470240 | SPRED1 | c.1191C>T (p.Asp397=) c.1227C>T (p.Asp409=) c.969C>T (p.Asp323=) c.1128C>T (p.Asp376=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351521G>A | CA7470241 | SPRED1 | c.1192G>A (p.Asp398Asn) c.1228G>A (p.Asp410Asn) c.970G>A (p.Asp324Asn) c.1129G>A (p.Asp377Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351521G>C | CA391934494 | SPRED1 | c.1192G>C (p.Asp398His) c.1228G>C (p.Asp410His) c.970G>C (p.Asp324His) c.1129G>C (p.Asp377His) | |
15 | g.38351521G= | CA2170812746 | SPRED1 | c.1192G= (p.Asp398=) c.1228G= (p.Asp410=) c.970G= (p.Asp324=) c.1129G= (p.Asp377=) | |
15 | g.38351521G>T | CA391934495 | SPRED1 | c.1192G>T (p.Asp398Tyr) c.1228G>T (p.Asp410Tyr) c.970G>T (p.Asp324Tyr) c.1129G>T (p.Asp377Tyr) | ClinVar |
15 | g.38351522A= | CA2170812748 | SPRED1 | c.1193A= (p.Asp398=) c.1229A= (p.Asp410=) c.971A= (p.Asp324=) c.1130A= (p.Asp377=) | |
15 | g.38351522A>C | CA391934498 | SPRED1 | c.1193A>C (p.Asp398Ala) c.1229A>C (p.Asp410Ala) c.971A>C (p.Asp324Ala) c.1130A>C (p.Asp377Ala) | |
15 | g.38351522A>G | CA391934499 | SPRED1 | c.1193A>G (p.Asp398Gly) c.1229A>G (p.Asp410Gly) c.971A>G (p.Asp324Gly) c.1130A>G (p.Asp377Gly) | |
15 | g.38351522A>T | CA391934500 | SPRED1 | c.1193A>T (p.Asp398Val) c.1229A>T (p.Asp410Val) c.971A>T (p.Asp324Val) c.1130A>T (p.Asp377Val) | |
15 | g.38351522_38351523delinsAC | CA2170812747 | SPRED1 | c.1193_1194delinsAC (p.Asp398=) c.1229_1230delinsAC (p.Asp410=) c.971_972delinsAC (p.Asp324=) c.1130_1131delinsAC (p.Asp377=) | |
15 | g.38351523del | CA7470242 | SPRED1 | c.1194del (p.Asp398GlufsTer8) c.1230del (p.Asp410GlufsTer8) c.972del (p.Asp324GlufsTer8) c.1131del (p.Asp377GlufsTer8) | dbSNP ExAC gnomAD v2 |
15 | g.38351523C>A | CA391934501 | SPRED1 | c.1194C>A (p.Asp398Glu) c.1230C>A (p.Asp410Glu) c.972C>A (p.Asp324Glu) c.1131C>A (p.Asp377Glu) | gnomAD v4 |
15 | g.38351523C= | CA2170812749 | SPRED1 | c.1194C= (p.Asp398=) c.1230C= (p.Asp410=) c.972C= (p.Asp324=) c.1131C= (p.Asp377=) | |
15 | g.38351523C>G | CA391934502 | SPRED1 | c.1194C>G (p.Asp398Glu) c.1230C>G (p.Asp410Glu) c.972C>G (p.Asp324Glu) c.1131C>G (p.Asp377Glu) | |
15 | g.38351523C>T | CA490012527 | SPRED1 | c.1194C>T (p.Asp398=) c.1230C>T (p.Asp410=) c.972C>T (p.Asp324=) c.1131C>T (p.Asp377=) | ClinVar dbSNP |
15 | g.38351523dup | CA2170812750 | SPRED1 | c.1194dup (p.Lys399GlnfsTer?) c.1230dup (p.Lys411GlnfsTer?) c.972dup (p.Lys325GlnfsTer?) c.1131dup (p.Lys378GlnfsTer?) | dbSNP |
15 | g.38351524A>C | CA391934504 | SPRED1 | c.1195A>C (p.Lys399Gln) c.1231A>C (p.Lys411Gln) c.973A>C (p.Lys325Gln) c.1132A>C (p.Lys378Gln) | |
15 | g.38351524A>G | CA391934506 | SPRED1 | c.1195A>G (p.Lys399Glu) c.1231A>G (p.Lys411Glu) c.973A>G (p.Lys325Glu) c.1132A>G (p.Lys378Glu) | |
15 | g.38351524A>T | CA391934505 | SPRED1 | c.1195A>T (p.Lys399Ter) c.1231A>T (p.Lys411Ter) c.973A>T (p.Lys325Ter) c.1132A>T (p.Lys378Ter) | |
15 | g.38351525dup | CA658658279 | SPRED1 | c.1196dup (p.Phe400ValfsTer?) c.1232dup (p.Phe412ValfsTer?) c.974dup (p.Phe326ValfsTer?) c.1133dup (p.Phe379ValfsTer?) | ClinVar dbSNP |
15 | g.38351524_38351525insCTGATG | CA2803806071 | SPRED1 | c.1195_1196insCTGATG (p.Lys399delinsThrAspGlu) c.1231_1232insCTGATG (p.Lys411delinsThrAspGlu) c.973_974insCTGATG (p.Lys325delinsThrAspGlu) c.1132_1133insCTGATG (p.Lys378delinsThrAspGlu) | |
15 | g.38351525A>C | CA391934509 | SPRED1 | c.1196A>C (p.Lys399Thr) c.1232A>C (p.Lys411Thr) c.974A>C (p.Lys325Thr) c.1133A>C (p.Lys378Thr) | |
15 | g.38351525A>G | CA391934510 | SPRED1 | c.1196A>G (p.Lys399Arg) c.1232A>G (p.Lys411Arg) c.974A>G (p.Lys325Arg) c.1133A>G (p.Lys378Arg) | |
15 | g.38351525A>T | CA391934512 | SPRED1 | c.1196A>T (p.Lys399Met) c.1232A>T (p.Lys411Met) c.974A>T (p.Lys325Met) c.1133A>T (p.Lys378Met) | |
15 | g.38351526G>A | CA490012533 | SPRED1 | c.1197G>A (p.Lys399=) c.1233G>A (p.Lys411=) c.975G>A (p.Lys325=) c.1134G>A (p.Lys378=) | |
15 | g.38351526G>C | CA391934514 | SPRED1 | c.1197G>C (p.Lys399Asn) c.1233G>C (p.Lys411Asn) c.975G>C (p.Lys325Asn) c.1134G>C (p.Lys378Asn) | |
15 | g.38351526G>T | CA391934516 | SPRED1 | c.1197G>T (p.Lys399Asn) c.1233G>T (p.Lys411Asn) c.975G>T (p.Lys325Asn) c.1134G>T (p.Lys378Asn) | |
15 | g.38351527T>A | CA391934518 | SPRED1 | c.1198T>A (p.Phe400Ile) c.1234T>A (p.Phe412Ile) c.976T>A (p.Phe326Ile) c.1135T>A (p.Phe379Ile) | |
15 | g.38351527T>C | CA391934519 | SPRED1 | c.1198T>C (p.Phe400Leu) c.1234T>C (p.Phe412Leu) c.976T>C (p.Phe326Leu) c.1135T>C (p.Phe379Leu) | |
15 | g.38351527T>G | CA391934521 | SPRED1 | c.1198T>G (p.Phe400Val) c.1234T>G (p.Phe412Val) c.976T>G (p.Phe326Val) c.1135T>G (p.Phe379Val) | |
15 | g.38351528T>A | CA391934523 | SPRED1 | c.1199T>A (p.Phe400Tyr) c.1235T>A (p.Phe412Tyr) c.977T>A (p.Phe326Tyr) c.1136T>A (p.Phe379Tyr) | ClinVar |
15 | g.38351528T>C | CA391934525 | SPRED1 | c.1199T>C (p.Phe400Ser) c.1235T>C (p.Phe412Ser) c.977T>C (p.Phe326Ser) c.1136T>C (p.Phe379Ser) | gnomAD v4 |
15 | g.38351528T>G | CA391934527 | SPRED1 | c.1199T>G (p.Phe400Cys) c.1235T>G (p.Phe412Cys) c.977T>G (p.Phe326Cys) c.1136T>G (p.Phe379Cys) | |
15 | g.38351529C>A | CA391934528 | SPRED1 | c.1200C>A (p.Phe400Leu) c.1236C>A (p.Phe412Leu) c.978C>A (p.Phe326Leu) c.1137C>A (p.Phe379Leu) | |
15 | g.38351529C>G | CA391934533 | SPRED1 | c.1200C>G (p.Phe400Leu) c.1236C>G (p.Phe412Leu) c.978C>G (p.Phe326Leu) c.1137C>G (p.Phe379Leu) | gnomAD v4 |
15 | g.38351529C>T | CA490012537 | SPRED1 | c.1200C>T (p.Phe400=) c.1236C>T (p.Phe412=) c.978C>T (p.Phe326=) c.1137C>T (p.Phe379=) | ClinVar dbSNP |
15 | g.38351530T>A | CA391934536 | SPRED1 | c.1201T>A (p.Cys401Ser) c.1237T>A (p.Cys413Ser) c.979T>A (p.Cys327Ser) c.1138T>A (p.Cys380Ser) | |
15 | g.38351530T>C | CA391934534 | SPRED1 | c.1201T>C (p.Cys401Arg) c.1237T>C (p.Cys413Arg) c.979T>C (p.Cys327Arg) c.1138T>C (p.Cys380Arg) | gnomAD v4 |
15 | g.38351530T>G | CA391934535 | SPRED1 | c.1201T>G (p.Cys401Gly) c.1237T>G (p.Cys413Gly) c.979T>G (p.Cys327Gly) c.1138T>G (p.Cys380Gly) | |
15 | g.38351533_38351536dup | CA658761259 | SPRED1 | c.1204_1207dup (p.Arg403LeufsTer30) c.1240_1243dup (p.Arg415LeufsTer30) c.982_985dup (p.Arg329LeufsTer30) c.1141_1144dup (p.Arg382LeufsTer30) | |
15 | g.38351531G>A | CA391934538 | SPRED1 | c.1202G>A (p.Cys401Tyr) c.1238G>A (p.Cys413Tyr) c.980G>A (p.Cys327Tyr) c.1139G>A (p.Cys380Tyr) | |
15 | g.38351531G>C | CA391934539 | SPRED1 | c.1202G>C (p.Cys401Ser) c.1238G>C (p.Cys413Ser) c.980G>C (p.Cys327Ser) c.1139G>C (p.Cys380Ser) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351531G= | CA2170812751 | SPRED1 | c.1202G= (p.Cys401=) c.1238G= (p.Cys413=) c.980G= (p.Cys327=) c.1139G= (p.Cys380=) | |
15 | g.38351531G>T | CA7470243 | SPRED1 | c.1202G>T (p.Cys401Phe) c.1238G>T (p.Cys413Phe) c.980G>T (p.Cys327Phe) c.1139G>T (p.Cys380Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351532C>A | CA391934541 | SPRED1 | c.1203C>A (p.Cys401Ter) c.1239C>A (p.Cys413Ter) c.981C>A (p.Cys327Ter) c.1140C>A (p.Cys380Ter) | |
15 | g.38351532C>G | CA391934543 | SPRED1 | c.1203C>G (p.Cys401Trp) c.1239C>G (p.Cys413Trp) c.981C>G (p.Cys327Trp) c.1140C>G (p.Cys380Trp) | |
15 | g.38351532C>T | CA490012540 | SPRED1 | c.1203C>T (p.Cys401=) c.1239C>T (p.Cys413=) c.981C>T (p.Cys327=) c.1140C>T (p.Cys380=) | ClinVar dbSNP gnomAD v4 |
15 | g.38351533T>A | CA391934544 | SPRED1 | c.1204T>A (p.Leu402Met) c.1240T>A (p.Leu414Met) c.982T>A (p.Leu328Met) c.1141T>A (p.Leu381Met) | |
15 | g.38351533T>C | CA7470244 | SPRED1 | c.1204T>C (p.Leu402=) c.1240T>C (p.Leu414=) c.982T>C (p.Leu328=) c.1141T>C (p.Leu381=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351533T>G | CA391934546 | SPRED1 | c.1204T>G (p.Leu402Val) c.1240T>G (p.Leu414Val) c.982T>G (p.Leu328Val) c.1141T>G (p.Leu381Val) | |
15 | g.38351533T= | CA2170812752 | SPRED1 | c.1204T= (p.Leu402=) c.1240T= (p.Leu414=) c.982T= (p.Leu328=) c.1141T= (p.Leu381=) | |
15 | g.38351534T>A | CA391934548 | SPRED1 | c.1205T>A (p.Leu402Ter) c.1241T>A (p.Leu414Ter) c.983T>A (p.Leu328Ter) c.1142T>A (p.Leu381Ter) | |
15 | g.38351534T>C | CA391934550 | SPRED1 | c.1205T>C (p.Leu402Ser) c.1241T>C (p.Leu414Ser) c.983T>C (p.Leu328Ser) c.1142T>C (p.Leu381Ser) | |
15 | g.38351534T>G | CA391934553 | SPRED1 | c.1205T>G (p.Leu402Trp) c.1241T>G (p.Leu414Trp) c.983T>G (p.Leu328Trp) c.1142T>G (p.Leu381Trp) | |
15 | g.38351535G>A | CA490012542 | SPRED1 | c.1206G>A (p.Leu402=) c.1242G>A (p.Leu414=) c.984G>A (p.Leu328=) c.1143G>A (p.Leu381=) | ClinVar |
15 | g.38351535G>C | CA391934555 | SPRED1 | c.1206G>C (p.Leu402Phe) c.1242G>C (p.Leu414Phe) c.984G>C (p.Leu328Phe) c.1143G>C (p.Leu381Phe) | |
15 | g.38351535G>T | CA391934556 | SPRED1 | c.1206G>T (p.Leu402Phe) c.1242G>T (p.Leu414Phe) c.984G>T (p.Leu328Phe) c.1143G>T (p.Leu381Phe) | |
15 | g.38351535_38351546del | CA2501080789 | SPRED1 | c.1206_1217del (p.Leu402_Ala406delinsPhe) c.1242_1253del (p.Leu414_Ala418delinsPhe) c.984_995del (p.Leu328_Ala332delinsPhe) c.1143_1154del (p.Leu381_Ala385delinsPhe) | |
15 | g.38351536C>A | CA490012545 | SPRED1 | c.1207C>A (p.Arg403=) c.1243C>A (p.Arg415=) c.985C>A (p.Arg329=) c.1144C>A (p.Arg382=) | |
15 | g.38351536C= | CA2170812753 | SPRED1 | c.1207C= (p.Arg403=) c.1243C= (p.Arg415=) c.985C= (p.Arg329=) c.1144C= (p.Arg382=) | |
15 | g.38351536C>G | CA391934558 | SPRED1 | c.1207C>G (p.Arg403Gly) c.1243C>G (p.Arg415Gly) c.985C>G (p.Arg329Gly) c.1144C>G (p.Arg382Gly) | |
15 | g.38351536C>T | CA391934560 | SPRED1 | c.1207C>T (p.Arg403Ter) c.1243C>T (p.Arg415Ter) c.985C>T (p.Arg329Ter) c.1144C>T (p.Arg382Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351537G>A | CA7470245 | SPRED1 | c.1208G>A (p.Arg403Gln) c.1244G>A (p.Arg415Gln) c.986G>A (p.Arg329Gln) c.1145G>A (p.Arg382Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351537G>C | CA391934563 | SPRED1 | c.1208G>C (p.Arg403Pro) c.1244G>C (p.Arg415Pro) c.986G>C (p.Arg329Pro) c.1145G>C (p.Arg382Pro) | |
15 | g.38351537G= | CA2170812754 | SPRED1 | c.1208G= (p.Arg403=) c.1244G= (p.Arg415=) c.986G= (p.Arg329=) c.1145G= (p.Arg382=) | |
15 | g.38351537G>T | CA391934561 | SPRED1 | c.1208G>T (p.Arg403Leu) c.1244G>T (p.Arg415Leu) c.986G>T (p.Arg329Leu) c.1145G>T (p.Arg382Leu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351538A>C | CA490012553 | SPRED1 | c.1209A>C (p.Arg403=) c.1245A>C (p.Arg415=) c.987A>C (p.Arg329=) c.1146A>C (p.Arg382=) | |
15 | g.38351538A>G | CA490012552 | SPRED1 | c.1209A>G (p.Arg403=) c.1245A>G (p.Arg415=) c.987A>G (p.Arg329=) c.1146A>G (p.Arg382=) | |
15 | g.38351538A>T | CA490012551 | SPRED1 | c.1209A>T (p.Arg403=) c.1245A>T (p.Arg415=) c.987A>T (p.Arg329=) c.1146A>T (p.Arg382=) | |
15 | g.38351539T>A | CA391934565 | SPRED1 | c.1210T>A (p.Trp404Arg) c.1246T>A (p.Trp416Arg) c.988T>A (p.Trp330Arg) c.1147T>A (p.Trp383Arg) | |
15 | g.38351539T>C | CA391934568 | SPRED1 | c.1210T>C (p.Trp404Arg) c.1246T>C (p.Trp416Arg) c.988T>C (p.Trp330Arg) c.1147T>C (p.Trp383Arg) | |
15 | g.38351539T>G | CA7470246 | SPRED1 | c.1210T>G (p.Trp404Gly) c.1246T>G (p.Trp416Gly) c.988T>G (p.Trp330Gly) c.1147T>G (p.Trp383Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351539T= | CA2170812755 | SPRED1 | c.1210T= (p.Trp404=) c.1246T= (p.Trp416=) c.988T= (p.Trp330=) c.1147T= (p.Trp383=) | |
15 | g.38351540G>A | CA391934569 | SPRED1 | c.1211G>A (p.Trp404Ter) c.1247G>A (p.Trp416Ter) c.989G>A (p.Trp330Ter) c.1148G>A (p.Trp383Ter) | ClinVar dbSNP |
15 | g.38351540G>C | CA391934571 | SPRED1 | c.1211G>C (p.Trp404Ser) c.1247G>C (p.Trp416Ser) c.989G>C (p.Trp330Ser) c.1148G>C (p.Trp383Ser) | |
15 | g.38351540G= | CA2170812756 | SPRED1 | c.1211G= (p.Trp404=) c.1247G= (p.Trp416=) c.989G= (p.Trp330=) c.1148G= (p.Trp383=) | |
15 | g.38351540G>T | CA391934570 | SPRED1 | c.1211G>T (p.Trp404Leu) c.1247G>T (p.Trp416Leu) c.989G>T (p.Trp330Leu) c.1148G>T (p.Trp383Leu) | |
15 | g.38351541G>A | CA391934572 | SPRED1 | c.1212G>A (p.Trp404Ter) c.1248G>A (p.Trp416Ter) c.990G>A (p.Trp330Ter) c.1149G>A (p.Trp383Ter) | |
15 | g.38351541G>C | CA391934573 | SPRED1 | c.1212G>C (p.Trp404Cys) c.1248G>C (p.Trp416Cys) c.990G>C (p.Trp330Cys) c.1149G>C (p.Trp383Cys) | |
15 | g.38351541G>T | CA391934575 | SPRED1 | c.1212G>T (p.Trp404Cys) c.1248G>T (p.Trp416Cys) c.990G>T (p.Trp330Cys) c.1149G>T (p.Trp383Cys) | |
15 | g.38351542T>A | CA391934577 | SPRED1 | c.1213T>A (p.Leu405Ile) c.1249T>A (p.Leu417Ile) c.991T>A (p.Leu331Ile) c.1150T>A (p.Leu384Ile) | |
15 | g.38351542T>C | CA490012558 | SPRED1 | c.1213T>C (p.Leu405=) c.1249T>C (p.Leu417=) c.991T>C (p.Leu331=) c.1150T>C (p.Leu384=) | |
15 | g.38351542T>G | CA391934578 | SPRED1 | c.1213T>G (p.Leu405Val) c.1249T>G (p.Leu417Val) c.991T>G (p.Leu331Val) c.1150T>G (p.Leu384Val) | |
15 | g.38351543T>A | CA391934580 | SPRED1 | c.1214T>A (p.Leu405Ter) c.1250T>A (p.Leu417Ter) c.992T>A (p.Leu331Ter) c.1151T>A (p.Leu384Ter) | |
15 | g.38351543T>C | CA391934582 | SPRED1 | c.1214T>C (p.Leu405Ser) c.1250T>C (p.Leu417Ser) c.992T>C (p.Leu331Ser) c.1151T>C (p.Leu384Ser) | |
15 | g.38351543T>G | CA391934583 | SPRED1 | c.1214T>G (p.Leu405Ter) c.1250T>G (p.Leu417Ter) c.992T>G (p.Leu331Ter) c.1151T>G (p.Leu384Ter) | |
15 | g.38351544A= | CA2170812757 | SPRED1 | c.1215A= (p.Leu405=) c.1251A= (p.Leu417=) c.993A= (p.Leu331=) c.1152A= (p.Leu384=) | |
15 | g.38351544A>C | CA391934585 | SPRED1 | c.1215A>C (p.Leu405Phe) c.1251A>C (p.Leu417Phe) c.993A>C (p.Leu331Phe) c.1152A>C (p.Leu384Phe) | |
15 | g.38351544A>G | CA490012561 | SPRED1 | c.1215A>G (p.Leu405=) c.1251A>G (p.Leu417=) c.993A>G (p.Leu331=) c.1152A>G (p.Leu384=) | ClinVar dbSNP gnomAD v4 |
15 | g.38351544A>T | CA391934587 | SPRED1 | c.1215A>T (p.Leu405Phe) c.1251A>T (p.Leu417Phe) c.993A>T (p.Leu331Phe) c.1152A>T (p.Leu384Phe) | |
15 | g.38351545G>A | CA7470247 | SPRED1 | c.1216G>A (p.Ala406Thr) c.1252G>A (p.Ala418Thr) c.994G>A (p.Ala332Thr) c.1153G>A (p.Ala385Thr) | ClinVar dbSNP ExAC gnomAD v2 |
15 | g.38351545G>C | CA391934589 | SPRED1 | c.1216G>C (p.Ala406Pro) c.1252G>C (p.Ala418Pro) c.994G>C (p.Ala332Pro) c.1153G>C (p.Ala385Pro) | |
15 | g.38351545G= | CA2170812758 | SPRED1 | c.1216G= (p.Ala406=) c.1252G= (p.Ala418=) c.994G= (p.Ala332=) c.1153G= (p.Ala385=) | |
15 | g.38351545G>T | CA391934591 | SPRED1 | c.1216G>T (p.Ala406Ser) c.1252G>T (p.Ala418Ser) c.994G>T (p.Ala332Ser) c.1153G>T (p.Ala385Ser) | gnomAD v4 |
15 | g.38351546C>A | CA391934595 | SPRED1 | c.1217C>A (p.Ala406Asp) c.1253C>A (p.Ala418Asp) c.995C>A (p.Ala332Asp) c.1154C>A (p.Ala385Asp) | |
15 | g.38351546C= | CA2170812759 | SPRED1 | c.1217C= (p.Ala406=) c.1253C= (p.Ala418=) c.995C= (p.Ala332=) c.1154C= (p.Ala385=) | |
15 | g.38351546C>G | CA391934593 | SPRED1 | c.1217C>G (p.Ala406Gly) c.1253C>G (p.Ala418Gly) c.995C>G (p.Ala332Gly) c.1154C>G (p.Ala385Gly) | |
15 | g.38351546C>T | CA7470248 | SPRED1 | c.1217C>T (p.Ala406Val) c.1253C>T (p.Ala418Val) c.995C>T (p.Ala332Val) c.1154C>T (p.Ala385Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351547C>A | CA490012562 | SPRED1 | c.1218C>A (p.Ala406=) c.1254C>A (p.Ala418=) c.996C>A (p.Ala332=) c.1155C>A (p.Ala385=) | |
15 | g.38351547C>G | CA490012563 | SPRED1 | c.1218C>G (p.Ala406=) c.1254C>G (p.Ala418=) c.996C>G (p.Ala332=) c.1155C>G (p.Ala385=) | |
15 | g.38351547C>T | CA490012564 | SPRED1 | c.1218C>T (p.Ala406=) c.1254C>T (p.Ala418=) c.996C>T (p.Ala332=) c.1155C>T (p.Ala385=) | |
15 | g.38351548C>A | CA391934597 | SPRED1 | c.1219C>A (p.Leu407Met) c.1255C>A (p.Leu419Met) c.997C>A (p.Leu333Met) c.1156C>A (p.Leu386Met) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351548C= | CA2170812760 | SPRED1 | c.1219C= (p.Leu407=) c.1255C= (p.Leu419=) c.997C= (p.Leu333=) c.1156C= (p.Leu386=) | |
15 | g.38351548C>G | CA391934599 | SPRED1 | c.1219C>G (p.Leu407Val) c.1255C>G (p.Leu419Val) c.997C>G (p.Leu333Val) c.1156C>G (p.Leu386Val) | |
15 | g.38351548C>T | CA490012566 | SPRED1 | c.1219C>T (p.Leu407=) c.1255C>T (p.Leu419=) c.997C>T (p.Leu333=) c.1156C>T (p.Leu386=) | |
15 | g.38351549T>A | CA391934600 | SPRED1 | c.1220T>A (p.Leu407Gln) c.1256T>A (p.Leu419Gln) c.998T>A (p.Leu333Gln) c.1157T>A (p.Leu386Gln) | |
15 | g.38351549T>C | CA391934601 | SPRED1 | c.1220T>C (p.Leu407Pro) c.1256T>C (p.Leu419Pro) c.998T>C (p.Leu333Pro) c.1157T>C (p.Leu386Pro) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351549T>G | CA391934603 | SPRED1 | c.1220T>G (p.Leu407Arg) c.1256T>G (p.Leu419Arg) c.998T>G (p.Leu333Arg) c.1157T>G (p.Leu386Arg) | |
15 | g.38351549T= | CA2170812761 | SPRED1 | c.1220T= (p.Leu407=) c.1256T= (p.Leu419=) c.998T= (p.Leu333=) c.1157T= (p.Leu386=) | |
15 | g.38351550G>A | CA490012570 | SPRED1 | c.1221G>A (p.Leu407=) c.1257G>A (p.Leu419=) c.999G>A (p.Leu333=) c.1158G>A (p.Leu386=) | |
15 | g.38351550G>C | CA490012571 | SPRED1 | c.1221G>C (p.Leu407=) c.1257G>C (p.Leu419=) c.999G>C (p.Leu333=) c.1158G>C (p.Leu386=) | |
15 | g.38351550G>T | CA490012572 | SPRED1 | c.1221G>T (p.Leu407=) c.1257G>T (p.Leu419=) c.999G>T (p.Leu333=) c.1158G>T (p.Leu386=) | |
15 | g.38351550_38351571del | CA2513772032 | SPRED1 | c.1221_1242del (p.Val408HisfsTer9) c.1257_1278del (p.Val420HisfsTer9) c.999_1020del (p.Val334HisfsTer9) c.1158_1179del (p.Val387HisfsTer9) | |
15 | g.38351551G>A | CA391934606 | SPRED1 | c.1222G>A (p.Val408Ile) c.1258G>A (p.Val420Ile) c.1000G>A (p.Val334Ile) c.1159G>A (p.Val387Ile) | gnomAD v4 |
15 | g.38351551G>C | CA391934609 | SPRED1 | c.1222G>C (p.Val408Leu) c.1258G>C (p.Val420Leu) c.1000G>C (p.Val334Leu) c.1159G>C (p.Val387Leu) | |
15 | g.38351551G= | CA2170812762 | SPRED1 | c.1222G= (p.Val408=) c.1258G= (p.Val420=) c.1000G= (p.Val334=) c.1159G= (p.Val387=) | |
15 | g.38351551G>T | CA7470249 | SPRED1 | c.1222G>T (p.Val408Leu) c.1258G>T (p.Val420Leu) c.1000G>T (p.Val334Leu) c.1159G>T (p.Val387Leu) | dbSNP ExAC gnomAD v2 |
15 | g.38351552T>A | CA391934610 | SPRED1 | c.1223T>A (p.Val408Glu) c.1259T>A (p.Val420Glu) c.1001T>A (p.Val334Glu) c.1160T>A (p.Val387Glu) | |
15 | g.38351552T>C | CA391934612 | SPRED1 | c.1223T>C (p.Val408Ala) c.1259T>C (p.Val420Ala) c.1001T>C (p.Val334Ala) c.1160T>C (p.Val387Ala) | |
15 | g.38351552T>G | CA391934613 | SPRED1 | c.1223T>G (p.Val408Gly) c.1259T>G (p.Val420Gly) c.1001T>G (p.Val334Gly) c.1160T>G (p.Val387Gly) | |
15 | g.38351553del | CA2697554337 | SPRED1 | c.1224del (p.Ala409LeufsTer15) c.1260del (p.Ala421LeufsTer15) c.1002del (p.Ala335LeufsTer15) c.1161del (p.Ala388LeufsTer15) | ClinVar |
15 | g.38351553A= | CA2170812763 | SPRED1 | c.1224A= (p.Val408=) c.1260A= (p.Val420=) c.1002A= (p.Val334=) c.1161A= (p.Val387=) | |
15 | g.38351553A>C | CA490012575 | SPRED1 | c.1224A>C (p.Val408=) c.1260A>C (p.Val420=) c.1002A>C (p.Val334=) c.1161A>C (p.Val387=) | |
15 | g.38351553A>G | CA490012576 | SPRED1 | c.1224A>G (p.Val408=) c.1260A>G (p.Val420=) c.1002A>G (p.Val334=) c.1161A>G (p.Val387=) | ClinVar dbSNP gnomAD v4 |
15 | g.38351553A>T | CA490012577 | SPRED1 | c.1224A>T (p.Val408=) c.1260A>T (p.Val420=) c.1002A>T (p.Val334=) c.1161A>T (p.Val387=) | |
15 | g.38351554G>A | CA7470251 | SPRED1 | c.1225G>A (p.Ala409Thr) c.1261G>A (p.Ala421Thr) c.1003G>A (p.Ala335Thr) c.1162G>A (p.Ala388Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351554G>C | CA391934616 | SPRED1 | c.1225G>C (p.Ala409Pro) c.1261G>C (p.Ala421Pro) c.1003G>C (p.Ala335Pro) c.1162G>C (p.Ala388Pro) | |
15 | g.38351554G= | CA2170812764 | SPRED1 | c.1225G= (p.Ala409=) c.1261G= (p.Ala421=) c.1003G= (p.Ala335=) c.1162G= (p.Ala388=) | |
15 | g.38351554G>T | CA7470250 | SPRED1 | c.1225G>T (p.Ala409Ser) c.1261G>T (p.Ala421Ser) c.1003G>T (p.Ala335Ser) c.1162G>T (p.Ala388Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351554_38351555delinsTT | CA658824654 | SPRED1 | c.1225_1226delinsTT (p.Ala409Phe) c.1261_1262delinsTT (p.Ala421Phe) c.1003_1004delinsTT (p.Ala335Phe) c.1162_1163delinsTT (p.Ala388Phe) | ClinVar |
15 | g.38351555C>A | CA391934619 | SPRED1 | c.1226C>A (p.Ala409Asp) c.1262C>A (p.Ala421Asp) c.1004C>A (p.Ala335Asp) c.1163C>A (p.Ala388Asp) | |
15 | g.38351555C= | CA2170812765 | SPRED1 | c.1226C= (p.Ala409=) c.1262C= (p.Ala421=) c.1004C= (p.Ala335=) c.1163C= (p.Ala388=) | |
15 | g.38351555C>G | CA391934621 | SPRED1 | c.1226C>G (p.Ala409Gly) c.1262C>G (p.Ala421Gly) c.1004C>G (p.Ala335Gly) c.1163C>G (p.Ala388Gly) | |
15 | g.38351555C>T | CA7470252 | SPRED1 | c.1226C>T (p.Ala409Val) c.1262C>T (p.Ala421Val) c.1004C>T (p.Ala335Val) c.1163C>T (p.Ala388Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351556T>A | CA490012582 | SPRED1 | c.1227T>A (p.Ala409=) c.1263T>A (p.Ala421=) c.1005T>A (p.Ala335=) c.1164T>A (p.Ala388=) | |
15 | g.38351556T>C | CA490012583 | SPRED1 | c.1227T>C (p.Ala409=) c.1263T>C (p.Ala421=) c.1005T>C (p.Ala335=) c.1164T>C (p.Ala388=) | |
15 | g.38351556T>G | CA490012581 | SPRED1 | c.1227T>G (p.Ala409=) c.1263T>G (p.Ala421=) c.1005T>G (p.Ala335=) c.1164T>G (p.Ala388=) | gnomAD v4 |
15 | g.38351557T>A | CA391934622 | SPRED1 | c.1228T>A (p.Leu410Met) c.1264T>A (p.Leu422Met) c.1006T>A (p.Leu336Met) c.1165T>A (p.Leu389Met) | |
15 | g.38351557T>C | CA490012584 | SPRED1 | c.1228T>C (p.Leu410=) c.1264T>C (p.Leu422=) c.1006T>C (p.Leu336=) c.1165T>C (p.Leu389=) | |
15 | g.38351557T>G | CA391934623 | SPRED1 | c.1228T>G (p.Leu410Val) c.1264T>G (p.Leu422Val) c.1006T>G (p.Leu336Val) c.1165T>G (p.Leu389Val) | |
15 | g.38351561_38351570del | CA2499222899 | SPRED1 | c.1232_1241del (p.Ser411TyrfsTer10) c.1268_1277del (p.Ser423TyrfsTer10) c.1010_1019del (p.Ser337TyrfsTer10) c.1169_1178del (p.Ser390TyrfsTer10) | ClinVar dbSNP |
15 | g.38351558T>A | CA391934625 | SPRED1 | c.1229T>A (p.Leu410Ter) c.1265T>A (p.Leu422Ter) c.1007T>A (p.Leu336Ter) c.1166T>A (p.Leu389Ter) | |
15 | g.38351558T>C | CA391934627 | SPRED1 | c.1229T>C (p.Leu410Ser) c.1265T>C (p.Leu422Ser) c.1007T>C (p.Leu336Ser) c.1166T>C (p.Leu389Ser) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351558T>G | CA391934628 | SPRED1 | c.1229T>G (p.Leu410Trp) c.1265T>G (p.Leu422Trp) c.1007T>G (p.Leu336Trp) c.1166T>G (p.Leu389Trp) | |
15 | g.38351558T= | CA2170812766 | SPRED1 | c.1229T= (p.Leu410=) c.1265T= (p.Leu422=) c.1007T= (p.Leu336=) c.1166T= (p.Leu389=) | |
15 | g.38351559G>A | CA490012586 | SPRED1 | c.1230G>A (p.Leu410=) c.1266G>A (p.Leu422=) c.1008G>A (p.Leu336=) c.1167G>A (p.Leu389=) | |
15 | g.38351559G>C | CA391934630 | SPRED1 | c.1230G>C (p.Leu410Phe) c.1266G>C (p.Leu422Phe) c.1008G>C (p.Leu336Phe) c.1167G>C (p.Leu389Phe) | |
15 | g.38351559G>T | CA391934631 | SPRED1 | c.1230G>T (p.Leu410Phe) c.1266G>T (p.Leu422Phe) c.1008G>T (p.Leu336Phe) c.1167G>T (p.Leu389Phe) | |
15 | g.38351560T>A | CA391934633 | SPRED1 | c.1231T>A (p.Ser411Thr) c.1267T>A (p.Ser423Thr) c.1009T>A (p.Ser337Thr) c.1168T>A (p.Ser390Thr) | |
15 | g.38351560T>C | CA391934635 | SPRED1 | c.1231T>C (p.Ser411Pro) c.1267T>C (p.Ser423Pro) c.1009T>C (p.Ser337Pro) c.1168T>C (p.Ser390Pro) | ClinVar |
15 | g.38351560T>G | CA391934637 | SPRED1 | c.1231T>G (p.Ser411Ala) c.1267T>G (p.Ser423Ala) c.1009T>G (p.Ser337Ala) c.1168T>G (p.Ser390Ala) | |
15 | g.38351561C>A | CA391934638 | SPRED1 | c.1232C>A (p.Ser411Tyr) c.1268C>A (p.Ser423Tyr) c.1010C>A (p.Ser337Tyr) c.1169C>A (p.Ser390Tyr) | |
15 | g.38351561C>G | CA391934641 | SPRED1 | c.1232C>G (p.Ser411Cys) c.1268C>G (p.Ser423Cys) c.1010C>G (p.Ser337Cys) c.1169C>G (p.Ser390Cys) | ClinVar gnomAD v4 |
15 | g.38351561C>T | CA391934643 | SPRED1 | c.1232C>T (p.Ser411Phe) c.1268C>T (p.Ser423Phe) c.1010C>T (p.Ser337Phe) c.1169C>T (p.Ser390Phe) | ClinVar |
15 | g.38351562T>A | CA490012593 | SPRED1 | c.1233T>A (p.Ser411=) c.1269T>A (p.Ser423=) c.1011T>A (p.Ser337=) c.1170T>A (p.Ser390=) | |
15 | g.38351562T>C | CA490012591 | SPRED1 | c.1233T>C (p.Ser411=) c.1269T>C (p.Ser423=) c.1011T>C (p.Ser337=) c.1170T>C (p.Ser390=) | |
15 | g.38351562T>G | CA490012590 | SPRED1 | c.1233T>G (p.Ser411=) c.1269T>G (p.Ser423=) c.1011T>G (p.Ser337=) c.1170T>G (p.Ser390=) | |
15 | g.38351564dup | CA2580089340 | SPRED1 | c.1235dup (p.Ile413HisfsTer19) c.1271dup (p.Ile425HisfsTer19) c.1013dup (p.Ile339HisfsTer19) c.1172dup (p.Ile392HisfsTer19) | ClinVar |
15 | g.38351563T>A | CA391934645 | SPRED1 | c.1234T>A (p.Phe412Ile) c.1270T>A (p.Phe424Ile) c.1012T>A (p.Phe338Ile) c.1171T>A (p.Phe391Ile) | |
15 | g.38351563T>C | CA391934647 | SPRED1 | c.1234T>C (p.Phe412Leu) c.1270T>C (p.Phe424Leu) c.1012T>C (p.Phe338Leu) c.1171T>C (p.Phe391Leu) | |
15 | g.38351563T>G | CA391934646 | SPRED1 | c.1234T>G (p.Phe412Val) c.1270T>G (p.Phe424Val) c.1012T>G (p.Phe338Val) c.1171T>G (p.Phe391Val) | |
15 | g.38351564T>A | CA391934648 | SPRED1 | c.1235T>A (p.Phe412Tyr) c.1271T>A (p.Phe424Tyr) c.1013T>A (p.Phe338Tyr) c.1172T>A (p.Phe391Tyr) | |
15 | g.38351564T>C | CA391934649 | SPRED1 | c.1235T>C (p.Phe412Ser) c.1271T>C (p.Phe424Ser) c.1013T>C (p.Phe338Ser) c.1172T>C (p.Phe391Ser) | |
15 | g.38351564T>G | CA391934650 | SPRED1 | c.1235T>G (p.Phe412Cys) c.1271T>G (p.Phe424Cys) c.1013T>G (p.Phe338Cys) c.1172T>G (p.Phe391Cys) | |
15 | g.38351565C>A | CA391934651 | SPRED1 | c.1236C>A (p.Phe412Leu) c.1272C>A (p.Phe424Leu) c.1014C>A (p.Phe338Leu) c.1173C>A (p.Phe391Leu) | |
15 | g.38351565C>G | CA391934652 | SPRED1 | c.1236C>G (p.Phe412Leu) c.1272C>G (p.Phe424Leu) c.1014C>G (p.Phe338Leu) c.1173C>G (p.Phe391Leu) | gnomAD v4 |
15 | g.38351565C>T | CA490012595 | SPRED1 | c.1236C>T (p.Phe412=) c.1272C>T (p.Phe424=) c.1014C>T (p.Phe338=) c.1173C>T (p.Phe391=) | gnomAD v4 COSMIC |
15 | g.38351566A>C | CA391934653 | SPRED1 | c.1237A>C (p.Ile413Leu) c.1273A>C (p.Ile425Leu) c.1015A>C (p.Ile339Leu) c.1174A>C (p.Ile392Leu) | |
15 | g.38351566A>G | CA391934654 | SPRED1 | c.1237A>G (p.Ile413Val) c.1273A>G (p.Ile425Val) c.1015A>G (p.Ile339Val) c.1174A>G (p.Ile392Val) | gnomAD v4 |
15 | g.38351566A>T | CA391934655 | SPRED1 | c.1237A>T (p.Ile413Phe) c.1273A>T (p.Ile425Phe) c.1015A>T (p.Ile339Phe) c.1174A>T (p.Ile392Phe) | |
15 | g.38351566_38351567del | CA2573150675 | SPRED1 | c.1237_1238del (p.Ile413CysfsTer18) c.1273_1274del (p.Ile425CysfsTer18) c.1015_1016del (p.Ile339CysfsTer18) c.1174_1175del (p.Ile392CysfsTer18) | ClinVar dbSNP |
15 | g.38351567T>A | CA391934656 | SPRED1 | c.1238T>A (p.Ile413Asn) c.1274T>A (p.Ile425Asn) c.1016T>A (p.Ile339Asn) c.1175T>A (p.Ile392Asn) | |
15 | g.38351567T>C | CA391934657 | SPRED1 | c.1238T>C (p.Ile413Thr) c.1274T>C (p.Ile425Thr) c.1016T>C (p.Ile339Thr) c.1175T>C (p.Ile392Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351567T>G | CA391934658 | SPRED1 | c.1238T>G (p.Ile413Ser) c.1274T>G (p.Ile425Ser) c.1016T>G (p.Ile339Ser) c.1175T>G (p.Ile392Ser) | |
15 | g.38351567T= | CA2170812767 | SPRED1 | c.1238T= (p.Ile413=) c.1274T= (p.Ile425=) c.1016T= (p.Ile339=) c.1175T= (p.Ile392=) | |
15 | g.38351568T>A | CA490012597 | SPRED1 | c.1239T>A (p.Ile413=) c.1275T>A (p.Ile425=) c.1017T>A (p.Ile339=) c.1176T>A (p.Ile392=) | |
15 | g.38351568T>C | CA7470253 | SPRED1 | c.1239T>C (p.Ile413=) c.1275T>C (p.Ile425=) c.1017T>C (p.Ile339=) c.1176T>C (p.Ile392=) | dbSNP ExAC |
15 | g.38351568T>G | CA391934659 | SPRED1 | c.1239T>G (p.Ile413Met) c.1275T>G (p.Ile425Met) c.1017T>G (p.Ile339Met) c.1176T>G (p.Ile392Met) | |
15 | g.38351568T= | CA2170812768 | SPRED1 | c.1239T= (p.Ile413=) c.1275T= (p.Ile425=) c.1017T= (p.Ile339=) c.1176T= (p.Ile392=) | |
15 | g.38351569G>A | CA391934660 | SPRED1 | c.1240G>A (p.Val414Ile) c.1276G>A (p.Val426Ile) c.1018G>A (p.Val340Ile) c.1177G>A (p.Val393Ile) | gnomAD v4 |
15 | g.38351569G>C | CA391934662 | SPRED1 | c.1240G>C (p.Val414Leu) c.1276G>C (p.Val426Leu) c.1018G>C (p.Val340Leu) c.1177G>C (p.Val393Leu) | |
15 | g.38351569G>T | CA391934661 | SPRED1 | c.1240G>T (p.Val414Leu) c.1276G>T (p.Val426Leu) c.1018G>T (p.Val340Leu) c.1177G>T (p.Val393Leu) | |
15 | g.38351570T>A | CA391934663 | SPRED1 | c.1241T>A (p.Val414Glu) c.1277T>A (p.Val426Glu) c.1019T>A (p.Val340Glu) c.1178T>A (p.Val393Glu) | |
15 | g.38351570T>C | CA391934664 | SPRED1 | c.1241T>C (p.Val414Ala) c.1277T>C (p.Val426Ala) c.1019T>C (p.Val340Ala) c.1178T>C (p.Val393Ala) | |
15 | g.38351570T>G | CA391934665 | SPRED1 | c.1241T>G (p.Val414Gly) c.1277T>G (p.Val426Gly) c.1019T>G (p.Val340Gly) c.1178T>G (p.Val393Gly) | |
15 | g.38351571A= | CA2170812769 | SPRED1 | c.1242A= (p.Val414=) c.1278A= (p.Val426=) c.1020A= (p.Val340=) c.1179A= (p.Val393=) | |
15 | g.38351571A>C | CA269293463 | SPRED1 | c.1242A>C (p.Val414=) c.1278A>C (p.Val426=) c.1020A>C (p.Val340=) c.1179A>C (p.Val393=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351571A>G | CA490012601 | SPRED1 | c.1242A>G (p.Val414=) c.1278A>G (p.Val426=) c.1020A>G (p.Val340=) c.1179A>G (p.Val393=) | ClinVar dbSNP |
15 | g.38351571A>T | CA490012602 | SPRED1 | c.1242A>T (p.Val414=) c.1278A>T (p.Val426=) c.1020A>T (p.Val340=) c.1179A>T (p.Val393=) | |
15 | g.38351572C>A | CA391934666 | SPRED1 | c.1243C>A (p.Pro415Thr) c.1279C>A (p.Pro427Thr) c.1021C>A (p.Pro341Thr) c.1180C>A (p.Pro394Thr) | |
15 | g.38351572C>G | CA391934667 | SPRED1 | c.1243C>G (p.Pro415Ala) c.1279C>G (p.Pro427Ala) c.1021C>G (p.Pro341Ala) c.1180C>G (p.Pro394Ala) | |
15 | g.38351572C>T | CA391934668 | SPRED1 | c.1243C>T (p.Pro415Ser) c.1279C>T (p.Pro427Ser) c.1021C>T (p.Pro341Ser) c.1180C>T (p.Pro394Ser) | |
15 | g.38351573C>A | CA391934669 | SPRED1 | c.1244C>A (p.Pro415Gln) c.1280C>A (p.Pro427Gln) c.1022C>A (p.Pro341Gln) c.1181C>A (p.Pro394Gln) | |
15 | g.38351573C>G | CA391934670 | SPRED1 | c.1244C>G (p.Pro415Arg) c.1280C>G (p.Pro427Arg) c.1022C>G (p.Pro341Arg) c.1181C>G (p.Pro394Arg) | |
15 | g.38351573C>T | CA391934671 | SPRED1 | c.1244C>T (p.Pro415Leu) c.1280C>T (p.Pro427Leu) c.1022C>T (p.Pro341Leu) c.1181C>T (p.Pro394Leu) | |
15 | g.38351574A= | CA2170812770 | SPRED1 | c.1245A= (p.Pro415=) c.1281A= (p.Pro427=) c.1023A= (p.Pro341=) c.1182A= (p.Pro394=) | |
15 | g.38351574A>C | CA490012604 | SPRED1 | c.1245A>C (p.Pro415=) c.1281A>C (p.Pro427=) c.1023A>C (p.Pro341=) c.1182A>C (p.Pro394=) | |
15 | g.38351574A>G | CA269293464 | SPRED1 | c.1245A>G (p.Pro415=) c.1281A>G (p.Pro427=) c.1023A>G (p.Pro341=) c.1182A>G (p.Pro394=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351574A>T | CA490012605 | SPRED1 | c.1245A>T (p.Pro415=) c.1281A>T (p.Pro427=) c.1023A>T (p.Pro341=) c.1182A>T (p.Pro394=) | |
15 | g.38351575T>A | CA391934672 | SPRED1 | c.1246T>A (p.Cys416Ser) c.1282T>A (p.Cys428Ser) c.1024T>A (p.Cys342Ser) c.1183T>A (p.Cys395Ser) | |
15 | g.38351575T>C | CA391934673 | SPRED1 | c.1246T>C (p.Cys416Arg) c.1282T>C (p.Cys428Arg) c.1024T>C (p.Cys342Arg) c.1183T>C (p.Cys395Arg) | ClinVar dbSNP gnomAD v4 |
15 | g.38351575T>G | CA391934674 | SPRED1 | c.1246T>G (p.Cys416Gly) c.1282T>G (p.Cys428Gly) c.1024T>G (p.Cys342Gly) c.1183T>G (p.Cys395Gly) | ClinVar dbSNP gnomAD v4 |
15 | g.38351575T= | CA2170812771 | SPRED1 | c.1246T= (p.Cys416=) c.1282T= (p.Cys428=) c.1024T= (p.Cys342=) c.1183T= (p.Cys395=) | |
15 | g.38351576G>A | CA391934677 | SPRED1 | c.1247G>A (p.Cys416Tyr) c.1283G>A (p.Cys428Tyr) c.1025G>A (p.Cys342Tyr) c.1184G>A (p.Cys395Tyr) | gnomAD v4 |
15 | g.38351576G>C | CA391934675 | SPRED1 | c.1247G>C (p.Cys416Ser) c.1283G>C (p.Cys428Ser) c.1025G>C (p.Cys342Ser) c.1184G>C (p.Cys395Ser) | |
15 | g.38351576G>T | CA391934676 | SPRED1 | c.1247G>T (p.Cys416Phe) c.1283G>T (p.Cys428Phe) c.1025G>T (p.Cys342Phe) c.1184G>T (p.Cys395Phe) | |
15 | g.38351577T>A | CA391934678 | SPRED1 | c.1248T>A (p.Cys416Ter) c.1284T>A (p.Cys428Ter) c.1026T>A (p.Cys342Ter) c.1185T>A (p.Cys395Ter) | ClinVar dbSNP |
15 | g.38351577T>C | CA490012607 | SPRED1 | c.1248T>C (p.Cys416=) c.1284T>C (p.Cys428=) c.1026T>C (p.Cys342=) c.1185T>C (p.Cys395=) | |
15 | g.38351577T>G | CA391934679 | SPRED1 | c.1248T>G (p.Cys416Trp) c.1284T>G (p.Cys428Trp) c.1026T>G (p.Cys342Trp) c.1185T>G (p.Cys395Trp) | |
15 | g.38351577dup | CA658761260 | SPRED1 | c.1248dup (p.Met417TyrfsTer15) c.1284dup (p.Met429TyrfsTer15) c.1026dup (p.Met343TyrfsTer15) c.1185dup (p.Met396TyrfsTer15) | |
15 | g.38351578A>C | CA391934680 | SPRED1 | c.1249A>C (p.Met417Leu) c.1285A>C (p.Met429Leu) c.1027A>C (p.Met343Leu) c.1186A>C (p.Met396Leu) | |
15 | g.38351578A>G | CA391934681 | SPRED1 | c.1249A>G (p.Met417Val) c.1285A>G (p.Met429Val) c.1027A>G (p.Met343Val) c.1186A>G (p.Met396Val) | gnomAD v4 |
15 | g.38351578A>T | CA391934682 | SPRED1 | c.1249A>T (p.Met417Leu) c.1285A>T (p.Met429Leu) c.1027A>T (p.Met343Leu) c.1186A>T (p.Met396Leu) | |
15 | g.38351579T>A | CA391934683 | SPRED1 | c.1250T>A (p.Met417Lys) c.1286T>A (p.Met429Lys) c.1028T>A (p.Met343Lys) c.1187T>A (p.Met396Lys) | |
15 | g.38351579T>C | CA391934684 | SPRED1 | c.1250T>C (p.Met417Thr) c.1286T>C (p.Met429Thr) c.1028T>C (p.Met343Thr) c.1187T>C (p.Met396Thr) | gnomAD v4 |
15 | g.38351579T>G | CA391934685 | SPRED1 | c.1250T>G (p.Met417Arg) c.1286T>G (p.Met429Arg) c.1028T>G (p.Met343Arg) c.1187T>G (p.Met396Arg) | |
15 | g.38351580G>A | CA391934686 | SPRED1 | c.1251G>A (p.Met417Ile) c.1287G>A (p.Met429Ile) c.1029G>A (p.Met343Ile) c.1188G>A (p.Met396Ile) | |
15 | g.38351580G>C | CA391934687 | SPRED1 | c.1251G>C (p.Met417Ile) c.1287G>C (p.Met429Ile) c.1029G>C (p.Met343Ile) c.1188G>C (p.Met396Ile) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351580G= | CA2170812772 | SPRED1 | c.1251G= (p.Met417=) c.1287G= (p.Met429=) c.1029G= (p.Met343=) c.1188G= (p.Met396=) | |
15 | g.38351580G>T | CA391934688 | SPRED1 | c.1251G>T (p.Met417Ile) c.1287G>T (p.Met429Ile) c.1029G>T (p.Met343Ile) c.1188G>T (p.Met396Ile) | |
15 | g.38351581del | CA658761261 | SPRED1 | c.1252del (p.Cys418AlafsTer6) c.1288del (p.Cys430AlafsTer6) c.1030del (p.Cys344AlafsTer6) c.1189del (p.Cys397AlafsTer6) | |
15 | g.38351581T>A | CA391934691 | SPRED1 | c.1252T>A (p.Cys418Ser) c.1288T>A (p.Cys430Ser) c.1030T>A (p.Cys344Ser) c.1189T>A (p.Cys397Ser) | |
15 | g.38351581T>C | CA391934690 | SPRED1 | c.1252T>C (p.Cys418Arg) c.1288T>C (p.Cys430Arg) c.1030T>C (p.Cys344Arg) c.1189T>C (p.Cys397Arg) | |
15 | g.38351581T>G | CA391934689 | SPRED1 | c.1252T>G (p.Cys418Gly) c.1288T>G (p.Cys430Gly) c.1030T>G (p.Cys344Gly) c.1189T>G (p.Cys397Gly) | |
15 | g.38351582G>A | CA391934692 | SPRED1 | c.1253G>A (p.Cys418Tyr) c.1289G>A (p.Cys430Tyr) c.1031G>A (p.Cys344Tyr) c.1190G>A (p.Cys397Tyr) | gnomAD v4 |
15 | g.38351582G>C | CA391934693 | SPRED1 | c.1253G>C (p.Cys418Ser) c.1289G>C (p.Cys430Ser) c.1031G>C (p.Cys344Ser) c.1190G>C (p.Cys397Ser) | |
15 | g.38351582G>T | CA391934694 | SPRED1 | c.1253G>T (p.Cys418Phe) c.1289G>T (p.Cys430Phe) c.1031G>T (p.Cys344Phe) c.1190G>T (p.Cys397Phe) | |
15 | g.38351583C>A | CA391934695 | SPRED1 | c.1254C>A (p.Cys418Ter) c.1290C>A (p.Cys430Ter) c.1032C>A (p.Cys344Ter) c.1191C>A (p.Cys397Ter) | |
15 | g.38351583C>G | CA391934696 | SPRED1 | c.1254C>G (p.Cys418Trp) c.1290C>G (p.Cys430Trp) c.1032C>G (p.Cys344Trp) c.1191C>G (p.Cys397Trp) | |
15 | g.38351583C>T | CA490012614 | SPRED1 | c.1254C>T (p.Cys418=) c.1290C>T (p.Cys430=) c.1032C>T (p.Cys344=) c.1191C>T (p.Cys397=) | ClinVar dbSNP gnomAD v4 |
15 | g.38351584T>A | CA391934697 | SPRED1 | c.1255T>A (p.Cys419Ser) c.1291T>A (p.Cys431Ser) c.1033T>A (p.Cys345Ser) c.1192T>A (p.Cys398Ser) | |
15 | g.38351584T>C | CA391934698 | SPRED1 | c.1255T>C (p.Cys419Arg) c.1291T>C (p.Cys431Arg) c.1033T>C (p.Cys345Arg) c.1192T>C (p.Cys398Arg) | |
15 | g.38351584T>G | CA391934699 | SPRED1 | c.1255T>G (p.Cys419Gly) c.1291T>G (p.Cys431Gly) c.1033T>G (p.Cys345Gly) c.1192T>G (p.Cys398Gly) | |
15 | g.38351585G>A | CA391934700 | SPRED1 | c.1256G>A (p.Cys419Tyr) c.1292G>A (p.Cys431Tyr) c.1034G>A (p.Cys345Tyr) c.1193G>A (p.Cys398Tyr) | gnomAD v4 |
15 | g.38351585G>C | CA391934701 | SPRED1 | c.1256G>C (p.Cys419Ser) c.1292G>C (p.Cys431Ser) c.1034G>C (p.Cys345Ser) c.1193G>C (p.Cys398Ser) | |
15 | g.38351585G>T | CA391934702 | SPRED1 | c.1256G>T (p.Cys419Phe) c.1292G>T (p.Cys431Phe) c.1034G>T (p.Cys345Phe) c.1193G>T (p.Cys398Phe) | |
15 | g.38351586C>A | CA391934703 | SPRED1 | c.1257C>A (p.Cys419Ter) c.1293C>A (p.Cys431Ter) c.1035C>A (p.Cys345Ter) c.1194C>A (p.Cys398Ter) | |
15 | g.38351586C= | CA2170812773 | SPRED1 | c.1257C= (p.Cys419=) c.1293C= (p.Cys431=) c.1035C= (p.Cys345=) c.1194C= (p.Cys398=) | |
15 | g.38351586C>G | CA391934704 | SPRED1 | c.1257C>G (p.Cys419Trp) c.1293C>G (p.Cys431Trp) c.1035C>G (p.Cys345Trp) c.1194C>G (p.Cys398Trp) | dbSNP |
15 | g.38351586C>T | CA490012616 | SPRED1 | c.1257C>T (p.Cys419=) c.1293C>T (p.Cys431=) c.1035C>T (p.Cys345=) c.1194C>T (p.Cys398=) | |
15 | g.38351587T>A | CA391934707 | SPRED1 | c.1258T>A (p.Tyr420Asn) c.1294T>A (p.Tyr432Asn) c.1036T>A (p.Tyr346Asn) c.1195T>A (p.Tyr399Asn) | |
15 | g.38351587T>C | CA391934705 | SPRED1 | c.1258T>C (p.Tyr420His) c.1294T>C (p.Tyr432His) c.1036T>C (p.Tyr346His) c.1195T>C (p.Tyr399His) | |
15 | g.38351587T>G | CA391934706 | SPRED1 | c.1258T>G (p.Tyr420Asp) c.1294T>G (p.Tyr432Asp) c.1036T>G (p.Tyr346Asp) c.1195T>G (p.Tyr399Asp) | |
15 | g.38351588A= | CA2170812774 | SPRED1 | c.1259A= (p.Tyr420=) c.1295A= (p.Tyr432=) c.1037A= (p.Tyr346=) c.1196A= (p.Tyr399=) | |
15 | g.38351588A>C | CA391934708 | SPRED1 | c.1259A>C (p.Tyr420Ser) c.1295A>C (p.Tyr432Ser) c.1037A>C (p.Tyr346Ser) c.1196A>C (p.Tyr399Ser) | dbSNP gnomAD v2 |
15 | g.38351588A>G | CA391934709 | SPRED1 | c.1259A>G (p.Tyr420Cys) c.1295A>G (p.Tyr432Cys) c.1037A>G (p.Tyr346Cys) c.1196A>G (p.Tyr399Cys) | |
15 | g.38351588A>T | CA391934710 | SPRED1 | c.1259A>T (p.Tyr420Phe) c.1295A>T (p.Tyr432Phe) c.1037A>T (p.Tyr346Phe) c.1196A>T (p.Tyr399Phe) | |
15 | g.38351589C>A | CA391934711 | SPRED1 | c.1260C>A (p.Tyr420Ter) c.1296C>A (p.Tyr432Ter) c.1038C>A (p.Tyr346Ter) c.1197C>A (p.Tyr399Ter) | COSMIC |
15 | g.38351589C= | CA2170812775 | SPRED1 | c.1260C= (p.Tyr420=) c.1296C= (p.Tyr432=) c.1038C= (p.Tyr346=) c.1197C= (p.Tyr399=) | |
15 | g.38351589C>G | CA391934712 | SPRED1 | c.1260C>G (p.Tyr420Ter) c.1296C>G (p.Tyr432Ter) c.1038C>G (p.Tyr346Ter) c.1197C>G (p.Tyr399Ter) | |
15 | g.38351589C>T | CA7470254 | SPRED1 | c.1260C>T (p.Tyr420=) c.1296C>T (p.Tyr432=) c.1038C>T (p.Tyr346=) c.1197C>T (p.Tyr399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351590G>A | CA7470255 | SPRED1 | c.1261G>A (p.Val421Ile) c.1297G>A (p.Val433Ile) c.1039G>A (p.Val347Ile) c.1198G>A (p.Val400Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351590G>C | CA391934713 | SPRED1 | c.1261G>C (p.Val421Leu) c.1297G>C (p.Val433Leu) c.1039G>C (p.Val347Leu) c.1198G>C (p.Val400Leu) | |
15 | g.38351590G= | CA2170812776 | SPRED1 | c.1261G= (p.Val421=) c.1297G= (p.Val433=) c.1039G= (p.Val347=) c.1198G= (p.Val400=) | |
15 | g.38351590G>T | CA391934714 | SPRED1 | c.1261G>T (p.Val421Phe) c.1297G>T (p.Val433Phe) c.1039G>T (p.Val347Phe) c.1198G>T (p.Val400Phe) | |
15 | g.38351591T>A | CA391934715 | SPRED1 | c.1262T>A (p.Val421Asp) c.1298T>A (p.Val433Asp) c.1040T>A (p.Val347Asp) c.1199T>A (p.Val400Asp) | |
15 | g.38351591T>C | CA391934716 | SPRED1 | c.1262T>C (p.Val421Ala) c.1298T>C (p.Val433Ala) c.1040T>C (p.Val347Ala) c.1199T>C (p.Val400Ala) | |
15 | g.38351591T>G | CA391934717 | SPRED1 | c.1262T>G (p.Val421Gly) c.1298T>G (p.Val433Gly) c.1040T>G (p.Val347Gly) c.1199T>G (p.Val400Gly) | gnomAD v4 |
15 | g.38351592C>A | CA490012618 | SPRED1 | c.1263C>A (p.Val421=) c.1299C>A (p.Val433=) c.1041C>A (p.Val347=) c.1200C>A (p.Val400=) | |
15 | g.38351592C>G | CA490012619 | SPRED1 | c.1263C>G (p.Val421=) c.1299C>G (p.Val433=) c.1041C>G (p.Val347=) c.1200C>G (p.Val400=) | |
15 | g.38351592C>T | CA490012620 | SPRED1 | c.1263C>T (p.Val421=) c.1299C>T (p.Val433=) c.1041C>T (p.Val347=) c.1200C>T (p.Val400=) | |
15 | g.38351593C>A | CA391934718 | SPRED1 | c.1264C>A (p.Pro422Thr) c.1300C>A (p.Pro434Thr) c.1042C>A (p.Pro348Thr) c.1201C>A (p.Pro401Thr) | |
15 | g.38351593C>G | CA391934720 | SPRED1 | c.1264C>G (p.Pro422Ala) c.1300C>G (p.Pro434Ala) c.1042C>G (p.Pro348Ala) c.1201C>G (p.Pro401Ala) | |
15 | g.38351593C>T | CA391934719 | SPRED1 | c.1264C>T (p.Pro422Ser) c.1300C>T (p.Pro434Ser) c.1042C>T (p.Pro348Ser) c.1201C>T (p.Pro401Ser) |