UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.38351610_38351668dup | CA1139663833 | SPRED1 | c.1281_*4dup (n.1281_*4dup) c.1317_*4dup (n.1317_*4dup) c.1059_*4dup (n.1059_*4dup) c.1218_*4dup (n.1218_*4dup) | ClinVar dbSNP |
| 15 | g.38351626_38351629delinsTGTG | CA2170812786 | SPRED1 | c.1297_1300delinsTGTG (p.Cys433=) c.1333_1336delinsTGTG (p.Cys445=) c.1075_1078delinsTGTG (p.Cys359=) c.1234_1237delinsTGTG (p.Cys412=) | |
| 15 | g.38351629_38351631del | CA968818059 | SPRED1 | c.1300_1302del (p.Gly434del) c.1336_1338del (p.Gly446del) c.1078_1080del (p.Gly360del) c.1237_1239del (p.Gly413del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351629G>A | CA391934799 | SPRED1 | c.1300G>A (p.Gly434Ser) c.1336G>A (p.Gly446Ser) c.1078G>A (p.Gly360Ser) c.1237G>A (p.Gly413Ser) | gnomAD v4 |
| 15 | g.38351629G>C | CA391934800 | SPRED1 | c.1300G>C (p.Gly434Arg) c.1336G>C (p.Gly446Arg) c.1078G>C (p.Gly360Arg) c.1237G>C (p.Gly413Arg) | |
| 15 | g.38351629G>T | CA391934801 | SPRED1 | c.1300G>T (p.Gly434Cys) c.1336G>T (p.Gly446Cys) c.1078G>T (p.Gly360Cys) c.1237G>T (p.Gly413Cys) | ClinVar gnomAD v4 |
| 15 | g.38351630G>A | CA391934802 | SPRED1 | c.1301G>A (p.Gly434Asp) c.1337G>A (p.Gly446Asp) c.1079G>A (p.Gly360Asp) c.1238G>A (p.Gly413Asp) | gnomAD v4 |
| 15 | g.38351630G>C | CA391934803 | SPRED1 | c.1301G>C (p.Gly434Ala) c.1337G>C (p.Gly446Ala) c.1079G>C (p.Gly360Ala) c.1238G>C (p.Gly413Ala) | |
| 15 | g.38351630G= | CA2170812788 | SPRED1 | c.1301G= (p.Gly434=) c.1337G= (p.Gly446=) c.1079G= (p.Gly360=) c.1238G= (p.Gly413=) | |
| 15 | g.38351630G>T | CA7470261 | SPRED1 | c.1301G>T (p.Gly434Val) c.1337G>T (p.Gly446Val) c.1079G>T (p.Gly360Val) c.1238G>T (p.Gly413Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351631T>A | CA489922955 | SPRED1 | c.1302T>A (p.Gly434=) c.1338T>A (p.Gly446=) c.1080T>A (p.Gly360=) c.1239T>A (p.Gly413=) | |
| 15 | g.38351631T>C | CA489922956 | SPRED1 | c.1302T>C (p.Gly434=) c.1338T>C (p.Gly446=) c.1080T>C (p.Gly360=) c.1239T>C (p.Gly413=) | |
| 15 | g.38351631T>G | CA489922957 | SPRED1 | c.1302T>G (p.Gly434=) c.1338T>G (p.Gly446=) c.1080T>G (p.Gly360=) c.1239T>G (p.Gly413=) | |
| 15 | g.38351632T>A | CA391934806 | SPRED1 | c.1303T>A (p.Cys435Ser) c.1339T>A (p.Cys447Ser) c.1081T>A (p.Cys361Ser) c.1240T>A (p.Cys414Ser) | |
| 15 | g.38351632T>C | CA391934805 | SPRED1 | c.1303T>C (p.Cys435Arg) c.1339T>C (p.Cys447Arg) c.1081T>C (p.Cys361Arg) c.1240T>C (p.Cys414Arg) | |
| 15 | g.38351632T>G | CA391934804 | SPRED1 | c.1303T>G (p.Cys435Gly) c.1339T>G (p.Cys447Gly) c.1081T>G (p.Cys361Gly) c.1240T>G (p.Cys414Gly) | |
| 15 | g.38351633G>A | CA391934807 | SPRED1 | c.1304G>A (p.Cys435Tyr) c.1340G>A (p.Cys447Tyr) c.1082G>A (p.Cys361Tyr) c.1241G>A (p.Cys414Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351633G>C | CA391934808 | SPRED1 | c.1304G>C (p.Cys435Ser) c.1340G>C (p.Cys447Ser) c.1082G>C (p.Cys361Ser) c.1241G>C (p.Cys414Ser) | |
| 15 | g.38351633G= | CA2170812789 | SPRED1 | c.1304G= (p.Cys435=) c.1340G= (p.Cys447=) c.1082G= (p.Cys361=) c.1241G= (p.Cys414=) | |
| 15 | g.38351633G>T | CA391934809 | SPRED1 | c.1304G>T (p.Cys435Phe) c.1340G>T (p.Cys447Phe) c.1082G>T (p.Cys361Phe) c.1241G>T (p.Cys414Phe) | gnomAD v4 COSMIC |
| 15 | g.38351634C>A | CA391934810 | SPRED1 | c.1305C>A (p.Cys435Ter) c.1341C>A (p.Cys447Ter) c.1083C>A (p.Cys361Ter) c.1242C>A (p.Cys414Ter) | |
| 15 | g.38351634C>G | CA391934811 | SPRED1 | c.1305C>G (p.Cys435Trp) c.1341C>G (p.Cys447Trp) c.1083C>G (p.Cys361Trp) c.1242C>G (p.Cys414Trp) | |
| 15 | g.38351634C>T | CA489922958 | SPRED1 | c.1305C>T (p.Cys435=) c.1341C>T (p.Cys447=) c.1083C>T (p.Cys361=) c.1242C>T (p.Cys414=) | |
| 15 | g.38351635T>A | CA391934812 | SPRED1 | c.1306T>A (p.Cys436Ser) c.1342T>A (p.Cys448Ser) c.1084T>A (p.Cys362Ser) c.1243T>A (p.Cys415Ser) | |
| 15 | g.38351635T>C | CA391934813 | SPRED1 | c.1306T>C (p.Cys436Arg) c.1342T>C (p.Cys448Arg) c.1084T>C (p.Cys362Arg) c.1243T>C (p.Cys415Arg) | |
| 15 | g.38351635T>G | CA391934814 | SPRED1 | c.1306T>G (p.Cys436Gly) c.1342T>G (p.Cys448Gly) c.1084T>G (p.Cys362Gly) c.1243T>G (p.Cys415Gly) | |
| 15 | g.38351636G>A | CA7470262 | SPRED1 | c.1307G>A (p.Cys436Tyr) c.1343G>A (p.Cys448Tyr) c.1085G>A (p.Cys362Tyr) c.1244G>A (p.Cys415Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351636G>C | CA391934815 | SPRED1 | c.1307G>C (p.Cys436Ser) c.1343G>C (p.Cys448Ser) c.1085G>C (p.Cys362Ser) c.1244G>C (p.Cys415Ser) | ClinVar |
| 15 | g.38351636G= | CA2170812790 | SPRED1 | c.1307G= (p.Cys436=) c.1343G= (p.Cys448=) c.1085G= (p.Cys362=) c.1244G= (p.Cys415=) | |
| 15 | g.38351636G>T | CA391934816 | SPRED1 | c.1307G>T (p.Cys436Phe) c.1343G>T (p.Cys448Phe) c.1085G>T (p.Cys362Phe) c.1244G>T (p.Cys415Phe) | gnomAD v4 |
| 15 | g.38351637T>A | CA391934817 | SPRED1 | c.1308T>A (p.Cys436Ter) c.1344T>A (p.Cys448Ter) c.1086T>A (p.Cys362Ter) c.1245T>A (p.Cys415Ter) | |
| 15 | g.38351637T>C | CA489922959 | SPRED1 | c.1308T>C (p.Cys436=) c.1344T>C (p.Cys448=) c.1086T>C (p.Cys362=) c.1245T>C (p.Cys415=) | |
| 15 | g.38351637T>G | CA391934818 | SPRED1 | c.1308T>G (p.Cys436Trp) c.1344T>G (p.Cys448Trp) c.1086T>G (p.Cys362Trp) c.1245T>G (p.Cys415Trp) | |
| 15 | g.38351638G>A | CA391934821 | SPRED1 | c.1309G>A (p.Gly437Ser) c.1345G>A (p.Gly449Ser) c.1087G>A (p.Gly363Ser) c.1246G>A (p.Gly416Ser) | |
| 15 | g.38351638G>C | CA391934819 | SPRED1 | c.1309G>C (p.Gly437Arg) c.1345G>C (p.Gly449Arg) c.1087G>C (p.Gly363Arg) c.1246G>C (p.Gly416Arg) | |
| 15 | g.38351638G>T | CA391934820 | SPRED1 | c.1309G>T (p.Gly437Cys) c.1345G>T (p.Gly449Cys) c.1087G>T (p.Gly363Cys) c.1246G>T (p.Gly416Cys) | |
| 15 | g.38351639G>A | CA391934822 | SPRED1 | c.1310G>A (p.Gly437Asp) c.1346G>A (p.Gly449Asp) c.1088G>A (p.Gly363Asp) c.1247G>A (p.Gly416Asp) | |
| 15 | g.38351639G>C | CA391934823 | SPRED1 | c.1310G>C (p.Gly437Ala) c.1346G>C (p.Gly449Ala) c.1088G>C (p.Gly363Ala) c.1247G>C (p.Gly416Ala) | |
| 15 | g.38351639G>T | CA391934824 | SPRED1 | c.1310G>T (p.Gly437Val) c.1346G>T (p.Gly449Val) c.1088G>T (p.Gly363Val) c.1247G>T (p.Gly416Val) | |
| 15 | g.38351640T>A | CA489922960 | SPRED1 | c.1311T>A (p.Gly437=) c.1347T>A (p.Gly449=) c.1089T>A (p.Gly363=) c.1248T>A (p.Gly416=) | |
| 15 | g.38351640T>C | CA489922961 | SPRED1 | c.1311T>C (p.Gly437=) c.1347T>C (p.Gly449=) c.1089T>C (p.Gly363=) c.1248T>C (p.Gly416=) | |
| 15 | g.38351640T>G | CA489922962 | SPRED1 | c.1311T>G (p.Gly437=) c.1347T>G (p.Gly449=) c.1089T>G (p.Gly363=) c.1248T>G (p.Gly416=) | |
| 15 | g.38351641G>A | CA391934825 | SPRED1 | c.1312G>A (p.Gly438Arg) c.1348G>A (p.Gly450Arg) c.1090G>A (p.Gly364Arg) c.1249G>A (p.Gly417Arg) | |
| 15 | g.38351641G>C | CA391934826 | SPRED1 | c.1312G>C (p.Gly438Arg) c.1348G>C (p.Gly450Arg) c.1090G>C (p.Gly364Arg) c.1249G>C (p.Gly417Arg) | |
| 15 | g.38351641G>T | CA391934827 | SPRED1 | c.1312G>T (p.Gly438Trp) c.1348G>T (p.Gly450Trp) c.1090G>T (p.Gly364Trp) c.1249G>T (p.Gly417Trp) | |
| 15 | g.38351642G>A | CA391934828 | SPRED1 | c.1313G>A (p.Gly438Glu) c.1349G>A (p.Gly450Glu) c.1091G>A (p.Gly364Glu) c.1250G>A (p.Gly417Glu) | gnomAD v4 |
| 15 | g.38351642G>C | CA391934829 | SPRED1 | c.1313G>C (p.Gly438Ala) c.1349G>C (p.Gly450Ala) c.1091G>C (p.Gly364Ala) c.1250G>C (p.Gly417Ala) | |
| 15 | g.38351642G= | CA2170812791 | SPRED1 | c.1313G= (p.Gly438=) c.1349G= (p.Gly450=) c.1091G= (p.Gly364=) c.1250G= (p.Gly417=) | |
| 15 | g.38351642G>T | CA7470263 | SPRED1 | c.1313G>T (p.Gly438Val) c.1349G>T (p.Gly450Val) c.1091G>T (p.Gly364Val) c.1250G>T (p.Gly417Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351643G>A | CA489922963 | SPRED1 | c.1314G>A (p.Gly438=) c.1350G>A (p.Gly450=) c.1092G>A (p.Gly364=) c.1251G>A (p.Gly417=) | |
| 15 | g.38351643G>C | CA489922965 | SPRED1 | c.1314G>C (p.Gly438=) c.1350G>C (p.Gly450=) c.1092G>C (p.Gly364=) c.1251G>C (p.Gly417=) | |
| 15 | g.38351643G>T | CA489922964 | SPRED1 | c.1314G>T (p.Gly438=) c.1350G>T (p.Gly450=) c.1092G>T (p.Gly364=) c.1251G>T (p.Gly417=) | gnomAD v4 |
| 15 | g.38351644A>C | CA391934830 | SPRED1 | c.1315A>C (p.Lys439Gln) c.1351A>C (p.Lys451Gln) c.1093A>C (p.Lys365Gln) c.1252A>C (p.Lys418Gln) | |
| 15 | g.38351644A>G | CA391934831 | SPRED1 | c.1315A>G (p.Lys439Glu) c.1351A>G (p.Lys451Glu) c.1093A>G (p.Lys365Glu) c.1252A>G (p.Lys418Glu) | |
| 15 | g.38351644A>T | CA391934832 | SPRED1 | c.1315A>T (p.Lys439Ter) c.1351A>T (p.Lys451Ter) c.1093A>T (p.Lys365Ter) c.1252A>T (p.Lys418Ter) | |
| 15 | g.38351645A>C | CA391934835 | SPRED1 | c.1316A>C (p.Lys439Thr) c.1352A>C (p.Lys451Thr) c.1094A>C (p.Lys365Thr) c.1253A>C (p.Lys418Thr) | |
| 15 | g.38351645A>G | CA391934834 | SPRED1 | c.1316A>G (p.Lys439Arg) c.1352A>G (p.Lys451Arg) c.1094A>G (p.Lys365Arg) c.1253A>G (p.Lys418Arg) | |
| 15 | g.38351645A>T | CA391934833 | SPRED1 | c.1316A>T (p.Lys439Ile) c.1352A>T (p.Lys451Ile) c.1094A>T (p.Lys365Ile) c.1253A>T (p.Lys418Ile) | |
| 15 | g.38351646A>C | CA391934836 | SPRED1 | c.1317A>C (p.Lys439Asn) c.1353A>C (p.Lys451Asn) c.1095A>C (p.Lys365Asn) c.1254A>C (p.Lys418Asn) | |
| 15 | g.38351646A>G | CA489922966 | SPRED1 | c.1317A>G (p.Lys439=) c.1353A>G (p.Lys451=) c.1095A>G (p.Lys365=) c.1254A>G (p.Lys418=) | ClinVar |
| 15 | g.38351646A>T | CA391934837 | SPRED1 | c.1317A>T (p.Lys439Asn) c.1353A>T (p.Lys451Asn) c.1095A>T (p.Lys365Asn) c.1254A>T (p.Lys418Asn) | |
| 15 | g.38351647C>A | CA391934838 | SPRED1 | c.1318C>A (p.His440Asn) c.1354C>A (p.His452Asn) c.1096C>A (p.His366Asn) c.1255C>A (p.His419Asn) | |
| 15 | g.38351647C>G | CA391934840 | SPRED1 | c.1318C>G (p.His440Asp) c.1354C>G (p.His452Asp) c.1096C>G (p.His366Asp) c.1255C>G (p.His419Asp) | |
| 15 | g.38351647C>T | CA391934839 | SPRED1 | c.1318C>T (p.His440Tyr) c.1354C>T (p.His452Tyr) c.1096C>T (p.His366Tyr) c.1255C>T (p.His419Tyr) | |
| 15 | g.38351647_38351649delinsCAT | CA2170812792 | SPRED1 | c.1318_1320delinsCAT (p.His440=) c.1354_1356delinsCAT (p.His452=) c.1096_1098delinsCAT (p.His366=) c.1255_1257delinsCAT (p.His419=) | |
| 15 | g.38351648A>C | CA391934841 | SPRED1 | c.1319A>C (p.His440Pro) c.1355A>C (p.His452Pro) c.1097A>C (p.His366Pro) c.1256A>C (p.His419Pro) | |
| 15 | g.38351648A>G | CA391934842 | SPRED1 | c.1319A>G (p.His440Arg) c.1355A>G (p.His452Arg) c.1097A>G (p.His366Arg) c.1256A>G (p.His419Arg) | |
| 15 | g.38351648A>T | CA391934843 | SPRED1 | c.1319A>T (p.His440Leu) c.1355A>T (p.His452Leu) c.1097A>T (p.His366Leu) c.1256A>T (p.His419Leu) | |
| 15 | g.38351649_38351650del | CA7470264 | SPRED1 | c.1320_1321del (p.His440GlnfsTer23) c.1356_1357del (p.His452GlnfsTer23) c.1098_1099del (p.His366GlnfsTer23) c.1257_1258del (p.His419GlnfsTer23) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351649T>A | CA391934844 | SPRED1 | c.1320T>A (p.His440Gln) c.1356T>A (p.His452Gln) c.1098T>A (p.His366Gln) c.1257T>A (p.His419Gln) | |
| 15 | g.38351649T>C | CA489922967 | SPRED1 | c.1320T>C (p.His440=) c.1356T>C (p.His452=) c.1098T>C (p.His366=) c.1257T>C (p.His419=) | |
| 15 | g.38351649T>G | CA391934845 | SPRED1 | c.1320T>G (p.His440Gln) c.1356T>G (p.His452Gln) c.1098T>G (p.His366Gln) c.1257T>G (p.His419Gln) | |
| 15 | g.38351650A>C | CA391934848 | SPRED1 | c.1321A>C (p.Lys441Gln) c.1357A>C (p.Lys453Gln) c.1099A>C (p.Lys367Gln) c.1258A>C (p.Lys420Gln) | |
| 15 | g.38351650A>G | CA391934846 | SPRED1 | c.1321A>G (p.Lys441Glu) c.1357A>G (p.Lys453Glu) c.1099A>G (p.Lys367Glu) c.1258A>G (p.Lys420Glu) | |
| 15 | g.38351650A>T | CA391934847 | SPRED1 | c.1321A>T (p.Lys441Ter) c.1357A>T (p.Lys453Ter) c.1099A>T (p.Lys367Ter) c.1258A>T (p.Lys420Ter) | |
| 15 | g.38351651A>C | CA391934849 | SPRED1 | c.1322A>C (p.Lys441Thr) c.1358A>C (p.Lys453Thr) c.1100A>C (p.Lys367Thr) c.1259A>C (p.Lys420Thr) | |
| 15 | g.38351651A>G | CA391934850 | SPRED1 | c.1322A>G (p.Lys441Arg) c.1358A>G (p.Lys453Arg) c.1100A>G (p.Lys367Arg) c.1259A>G (p.Lys420Arg) | |
| 15 | g.38351651A>T | CA391934851 | SPRED1 | c.1322A>T (p.Lys441Ile) c.1358A>T (p.Lys453Ile) c.1100A>T (p.Lys367Ile) c.1259A>T (p.Lys420Ile) | |
| 15 | g.38351652A>C | CA391934852 | SPRED1 | c.1323A>C (p.Lys441Asn) c.1359A>C (p.Lys453Asn) c.1101A>C (p.Lys367Asn) c.1260A>C (p.Lys420Asn) | |
| 15 | g.38351652A>G | CA489922968 | SPRED1 | c.1323A>G (p.Lys441=) c.1359A>G (p.Lys453=) c.1101A>G (p.Lys367=) c.1260A>G (p.Lys420=) | |
| 15 | g.38351652A>T | CA391934853 | SPRED1 | c.1323A>T (p.Lys441Asn) c.1359A>T (p.Lys453Asn) c.1101A>T (p.Lys367Asn) c.1260A>T (p.Lys420Asn) | |
| 15 | g.38351653G>A | CA7470265 | SPRED1 | c.1324G>A (p.Ala442Thr) c.1360G>A (p.Ala454Thr) c.1102G>A (p.Ala368Thr) c.1261G>A (p.Ala421Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351653G>C | CA391934854 | SPRED1 | c.1324G>C (p.Ala442Pro) c.1360G>C (p.Ala454Pro) c.1102G>C (p.Ala368Pro) c.1261G>C (p.Ala421Pro) | |
| 15 | g.38351653G= | CA2170812793 | SPRED1 | c.1324G= (p.Ala442=) c.1360G= (p.Ala454=) c.1102G= (p.Ala368=) c.1261G= (p.Ala421=) | |
| 15 | g.38351653G>T | CA391934855 | SPRED1 | c.1324G>T (p.Ala442Ser) c.1360G>T (p.Ala454Ser) c.1102G>T (p.Ala368Ser) c.1261G>T (p.Ala421Ser) | |
| 15 | g.38351654C>A | CA391934856 | SPRED1 | c.1325C>A (p.Ala442Asp) c.1361C>A (p.Ala454Asp) c.1103C>A (p.Ala368Asp) c.1262C>A (p.Ala421Asp) | |
| 15 | g.38351654C>G | CA391934857 | SPRED1 | c.1325C>G (p.Ala442Gly) c.1361C>G (p.Ala454Gly) c.1103C>G (p.Ala368Gly) c.1262C>G (p.Ala421Gly) | |
| 15 | g.38351654C>T | CA391934858 | SPRED1 | c.1325C>T (p.Ala442Val) c.1361C>T (p.Ala454Val) c.1103C>T (p.Ala368Val) c.1262C>T (p.Ala421Val) | |
| 15 | g.38351655T>A | CA489922969 | SPRED1 | c.1326T>A (p.Ala442=) c.1362T>A (p.Ala454=) c.1104T>A (p.Ala368=) c.1263T>A (p.Ala421=) | |
| 15 | g.38351655T>C | CA489922970 | SPRED1 | c.1326T>C (p.Ala442=) c.1362T>C (p.Ala454=) c.1104T>C (p.Ala368=) c.1263T>C (p.Ala421=) | |
| 15 | g.38351655T>G | CA489922971 | SPRED1 | c.1326T>G (p.Ala442=) c.1362T>G (p.Ala454=) c.1104T>G (p.Ala368=) c.1263T>G (p.Ala421=) | |
| 15 | g.38351656G>A | CA391934859 | SPRED1 | c.1327G>A (p.Ala443Thr) c.1363G>A (p.Ala455Thr) c.1105G>A (p.Ala369Thr) c.1264G>A (p.Ala422Thr) | |
| 15 | g.38351656G>C | CA391934860 | SPRED1 | c.1327G>C (p.Ala443Pro) c.1363G>C (p.Ala455Pro) c.1105G>C (p.Ala369Pro) c.1264G>C (p.Ala422Pro) | ClinVar gnomAD v4 |
| 15 | g.38351656G>T | CA391934861 | SPRED1 | c.1327G>T (p.Ala443Ser) c.1363G>T (p.Ala455Ser) c.1105G>T (p.Ala369Ser) c.1264G>T (p.Ala422Ser) | |
| 15 | g.38351657C>A | CA391934862 | SPRED1 | c.1328C>A (p.Ala443Asp) c.1364C>A (p.Ala455Asp) c.1106C>A (p.Ala369Asp) c.1265C>A (p.Ala422Asp) | |
| 15 | g.38351657C>G | CA391934863 | SPRED1 | c.1328C>G (p.Ala443Gly) c.1364C>G (p.Ala455Gly) c.1106C>G (p.Ala369Gly) c.1265C>G (p.Ala422Gly) | |
| 15 | g.38351657C>T | CA391934864 | SPRED1 | c.1328C>T (p.Ala443Val) c.1364C>T (p.Ala455Val) c.1106C>T (p.Ala369Val) c.1265C>T (p.Ala422Val) | |
| 15 | g.38351658T>A | CA489922972 | SPRED1 | c.1329T>A (p.Ala443=) c.1365T>A (p.Ala455=) c.1107T>A (p.Ala369=) c.1266T>A (p.Ala422=) | ClinVar |
| 15 | g.38351658T>C | CA489922973 | SPRED1 | c.1329T>C (p.Ala443=) c.1365T>C (p.Ala455=) c.1107T>C (p.Ala369=) c.1266T>C (p.Ala422=) | |
| 15 | g.38351658T>G | CA489922974 | SPRED1 | c.1329T>G (p.Ala443=) c.1365T>G (p.Ala455=) c.1107T>G (p.Ala369=) c.1266T>G (p.Ala422=) | |
| 15 | g.38351659G>A | CA391934865 | SPRED1 | c.1330G>A (p.Gly444Arg) c.1366G>A (p.Gly456Arg) c.1108G>A (p.Gly370Arg) c.1267G>A (p.Gly423Arg) | ClinVar |
| 15 | g.38351659G>C | CA391934866 | SPRED1 | c.1330G>C (p.Gly444Arg) c.1366G>C (p.Gly456Arg) c.1108G>C (p.Gly370Arg) c.1267G>C (p.Gly423Arg) | |
| 15 | g.38351659G>T | CA391934867 | SPRED1 | c.1330G>T (p.Gly444Ter) c.1366G>T (p.Gly456Ter) c.1108G>T (p.Gly370Ter) c.1267G>T (p.Gly423Ter) | |
| 15 | g.38351660G>A | CA391934868 | SPRED1 | c.1331G>A (p.Gly444Glu) c.1367G>A (p.Gly456Glu) c.1109G>A (p.Gly370Glu) c.1268G>A (p.Gly423Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.38351660G>C | CA391934870 | SPRED1 | c.1331G>C (p.Gly444Ala) c.1367G>C (p.Gly456Ala) c.1109G>C (p.Gly370Ala) c.1268G>C (p.Gly423Ala) | gnomAD v4 |
| 15 | g.38351660G= | CA2170812794 | SPRED1 | c.1331G= (p.Gly444=) c.1367G= (p.Gly456=) c.1109G= (p.Gly370=) c.1268G= (p.Gly423=) | |
| 15 | g.38351660G>T | CA391934869 | SPRED1 | c.1331G>T (p.Gly444Val) c.1367G>T (p.Gly456Val) c.1109G>T (p.Gly370Val) c.1268G>T (p.Gly423Val) | |
| 15 | g.38351661A= | CA2170812795 | SPRED1 | c.1332A= (p.Gly444=) c.1368A= (p.Gly456=) c.1110A= (p.Gly370=) c.1269A= (p.Gly423=) | |
| 15 | g.38351661A>C | CA489922975 | SPRED1 | c.1332A>C (p.Gly444=) c.1368A>C (p.Gly456=) c.1110A>C (p.Gly370=) c.1269A>C (p.Gly423=) | |
| 15 | g.38351661A>G | CA489922976 | SPRED1 | c.1332A>G (p.Gly444=) c.1368A>G (p.Gly456=) c.1110A>G (p.Gly370=) c.1269A>G (p.Gly423=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351661A>T | CA489922977 | SPRED1 | c.1332A>T (p.Gly444=) c.1368A>T (p.Gly456=) c.1110A>T (p.Gly370=) c.1269A>T (p.Gly423=) | |
| 15 | g.38351662T>A | CA391934871 | SPRED1 | c.1333T>A (p.Ter445Arg) c.1369T>A (p.Ter457Arg) c.1111T>A (p.Ter371Arg) c.1270T>A (p.Ter424Arg) | |
| 15 | g.38351662T>C | CA391934872 | SPRED1 | c.1333T>C (p.Ter445Arg) c.1369T>C (p.Ter457Arg) c.1111T>C (p.Ter371Arg) c.1270T>C (p.Ter424Arg) | |
| 15 | g.38351662T>G | CA391934873 | SPRED1 | c.1333T>G (p.Ter445Gly) c.1369T>G (p.Ter457Gly) c.1111T>G (p.Ter371Gly) c.1270T>G (p.Ter424Gly) | |
| 15 | g.38351663G>A | CA489922978 | SPRED1 | c.1334G>A (p.Ter445=) c.1370G>A (p.Ter457=) c.1112G>A (p.Ter371=) c.1271G>A (p.Ter424=) | |
| 15 | g.38351663G>C | CA391934874 | SPRED1 | c.1334G>C (p.Ter445Ser) c.1370G>C (p.Ter457Ser) c.1112G>C (p.Ter371Ser) c.1271G>C (p.Ter424Ser) | |
| 15 | g.38351663G>T | CA391934875 | SPRED1 | c.1334G>T (p.Ter445Leu) c.1370G>T (p.Ter457Leu) c.1112G>T (p.Ter371Leu) c.1271G>T (p.Ter424Leu) | |
| 15 | g.38351664A>C | CA391934876 | SPRED1 | c.1335A>C (p.Ter445Cys) c.1371A>C (p.Ter457Cys) c.1113A>C (p.Ter371Cys) c.1272A>C (p.Ter424Cys) | |
| 15 | g.38351664A>G | CA391934877 | SPRED1 | c.1335A>G (p.Ter445Trp) c.1371A>G (p.Ter457Trp) c.1113A>G (p.Ter371Trp) c.1272A>G (p.Ter424Trp) | gnomAD v4 |
| 15 | g.38351664A>T | CA391934878 | SPRED1 | c.1335A>T (p.Ter445Cys) c.1371A>T (p.Ter457Cys) c.1113A>T (p.Ter371Cys) c.1272A>T (p.Ter424Cys) | |
| 15 | g.38351665_38351666insTC | CA2564237004 | SPRED1 | c.*1_*2insTC (n.*1_*2insTC) | |
| 15 | g.38351666A= | CA2170812796 | SPRED1 | c.*2A= (n.*2A=) | |
| 15 | g.38351666A>C | CA7470266 | SPRED1 | c.*2A>C (n.*2A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351667T>G | CA2575673318 | SPRED1 | c.*3T>G (n.*3T>G) | |
| 15 | g.38351667_38351668del | CA2518566125 | SPRED1 | c.*3_*4del (n.*3_*4del) | |
| 15 | g.38351668G>A | CA2170812798 | SPRED1 | c.*4G>A (n.*4G>A) | dbSNP |
| 15 | g.38351668G>C | CA2575673319 | SPRED1 | c.*4G>C (n.*4G>C) | |
| 15 | g.38351668G= | CA2170812797 | SPRED1 | c.*4G= (n.*4G=) | |
| 15 | g.38351668G>T | CA2575673320 | SPRED1 | c.*4G>T (n.*4G>T) | gnomAD v4 |
| 15 | g.38351669G>A | CA617506035 | SPRED1 | c.*5G>A (n.*5G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351669G= | CA2170812799 | SPRED1 | c.*5G= (n.*5G=) | |
| 15 | g.38351669G>T | CA2170812800 | SPRED1 | c.*5G>T (n.*5G>T) | dbSNP gnomAD v4 |
| 15 | g.38351670T>C | CA2627716214 | SPRED1 | c.*6T>C (n.*6T>C) | gnomAD v4 |
| 15 | g.38351670T>G | CA2627716215 | SPRED1 | c.*6T>G (n.*6T>G) | gnomAD v4 |
| 15 | g.38351671C= | CA2170812801 | SPRED1 | c.*7C= (n.*7C=) | |
| 15 | g.38351671C>T | CA2170812802 | SPRED1 | c.*7C>T (n.*7C>T) | dbSNP gnomAD v4 |
| 15 | g.38351672C>T | CA2565543396 | SPRED1 | c.*8C>T (n.*8C>T) | gnomAD v4 |
| 15 | g.38351673A= | CA2170812803 | SPRED1 | c.*9A= (n.*9A=) | |
| 15 | g.38351673A>G | CA617506037 | SPRED1 | c.*9A>G (n.*9A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351673A>T | CA2543642624 | SPRED1 | c.*9A>T (n.*9A>T) | |
| 15 | g.38351675_38351676del | CA2803806074 | SPRED1 | c.*11_*12del (n.*11_*12del) | |
| 15 | g.38351675T>G | CA617506038 | SPRED1 | c.*11T>G (n.*11T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351675T= | CA2170812804 | SPRED1 | c.*11T= (n.*11T=) | |
| 15 | g.38351676G>A | CA2803806075 | SPRED1 | c.*12G>A (n.*12G>A) | |
| 15 | g.38351677C>A | CA2575673321 | SPRED1 | c.*13C>A (n.*13C>A) | |
| 15 | g.38351677C= | CA2170812806 | SPRED1 | c.*13C= (n.*13C=) | |
| 15 | g.38351677C>T | CA2170812805 | SPRED1 | c.*13C>T (n.*13C>T) | dbSNP gnomAD v4 |
| 15 | g.38351679A= | CA2170812807 | SPRED1 | c.*15A= (n.*15A=) | |
| 15 | g.38351679A>G | CA2170812808 | SPRED1 | c.*15A>G (n.*15A>G) | dbSNP |
| 15 | g.38351682del | CA2627716216 | SPRED1 | c.*18del (n.*18del) | gnomAD v4 |
| 15 | g.38351682A>C | CA2515962274 | SPRED1 | c.*18A>C (n.*18A>C) | |
| 15 | g.38351682A>G | CA2575673322 | SPRED1 | c.*18A>G (n.*18A>G) | gnomAD v4 |
| 15 | g.38351683T>A | CA2529705384 | SPRED1 | c.*19T>A (n.*19T>A) | |
| 15 | g.38351683T>C | CA2627716217 | SPRED1 | c.*19T>C (n.*19T>C) | gnomAD v4 |
| 15 | g.38351684G>A | CA2627716218 | SPRED1 | c.*20G>A (n.*20G>A) | gnomAD v4 |
| 15 | g.38351685A= | CA2170812809 | SPRED1 | c.*21A= (n.*21A=) | |
| 15 | g.38351685A>T | CA269293465 | SPRED1 | c.*21A>T (n.*21A>T) | dbSNP |
| 15 | g.38351686G>A | CA2803806076 | SPRED1 | c.*22G>A (n.*22G>A) | |
| 15 | g.38351687C>T | CA2575673323 | SPRED1 | c.*23C>T (n.*23C>T) | |
| 15 | g.38351689T>A | CA2627716219 | SPRED1 | c.*25T>A (n.*25T>A) | gnomAD v4 |
| 15 | g.38351689T>C | CA2627716220 | SPRED1 | c.*25T>C (n.*25T>C) | gnomAD v4 |
| 15 | g.38351689T>G | CA2563600239 | SPRED1 | c.*25T>G (n.*25T>G) | |
| 15 | g.38351690A= | CA2170812810 | SPRED1 | c.*26A= (n.*26A=) | |
| 15 | g.38351690A>G | CA2170812811 | SPRED1 | c.*26A>G (n.*26A>G) | dbSNP |
| 15 | g.38351693dup | CA2627716221 | SPRED1 | c.*29dup (n.*29dup) | gnomAD v4 |
| 15 | g.38351691A>T | CA2627716222 | SPRED1 | c.*27A>T (n.*27A>T) | gnomAD v4 |
| 15 | g.38351693A= | CA2170812812 | SPRED1 | c.*29A= (n.*29A=) | |
| 15 | g.38351693A>G | CA617506039 | SPRED1 | c.*29A>G (n.*29A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351694T>C | CA269293466 | SPRED1 | c.*30T>C (n.*30T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351694T= | CA2170812813 | SPRED1 | c.*30T= (n.*30T=) | |
| 15 | g.38351695C>A | CA2575673324 | SPRED1 | c.*31C>A (n.*31C>A) | |
| 15 | g.38351695C= | CA2170812814 | SPRED1 | c.*31C= (n.*31C=) | |
| 15 | g.38351695C>G | CA2627716223 | SPRED1 | c.*31C>G (n.*31C>G) | gnomAD v4 |
| 15 | g.38351695C>T | CA617506040 | SPRED1 | c.*31C>T (n.*31C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.38351696T>C | CA2575673326 | SPRED1 | c.*32T>C (n.*32T>C) | gnomAD v4 |
| 15 | g.38351698dup | CA655988883 | SPRED1 | c.*34dup (n.*34dup) | COSMIC |
| 15 | g.38351697_38351698del | CA2575673325 | SPRED1 | c.*33_*34del (n.*33_*34del) | |
| 15 | g.38351697T= | CA2170812815 | SPRED1 | c.*33T= (n.*33T=) | |
| 15 | g.38351697_38351698insATA | CA7470267 | SPRED1 | c.*33_*34insATA (n.*33_*34insATA) | dbSNP ExAC gnomAD v2 |
| 15 | g.38351698T>A | CA2627716224 | SPRED1 | c.*34T>A (n.*34T>A) | gnomAD v4 |
| 15 | g.38351698T>C | CA617506041 | SPRED1 | c.*34T>C (n.*34T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351698T= | CA2170812816 | SPRED1 | c.*34T= (n.*34T=) | |
| 15 | g.38351699G>A | CA2627716225 | SPRED1 | c.*35G>A (n.*35G>A) | gnomAD v4 |
| 15 | g.38351700T>A | CA2627716226 | SPRED1 | c.*36T>A (n.*36T>A) | gnomAD v4 |
| 15 | g.38351700T>G | CA617506042 | SPRED1 | c.*36T>G (n.*36T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351700T= | CA2170812817 | SPRED1 | c.*36T= (n.*36T=) | |
| 15 | g.38351701T>G | CA2575673327 | SPRED1 | c.*37T>G (n.*37T>G) | |
| 15 | g.38351702T>A | CA2627716227 | SPRED1 | c.*38T>A (n.*38T>A) | gnomAD v4 |
| 15 | g.38351703C>T | CA2627716228 | SPRED1 | c.*39C>T (n.*39C>T) | gnomAD v4 |
| 15 | g.38351705A= | CA2170812818 | SPRED1 | c.*41A= (n.*41A=) | |
| 15 | g.38351705A>G | CA968818067 | SPRED1 | c.*41A>G (n.*41A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351706G>A | CA968818073 | SPRED1 | c.*42G>A (n.*42G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351706G= | CA2170812819 | SPRED1 | c.*42G= (n.*42G=) | |
| 15 | g.38351707G>A | CA2170812820 | SPRED1 | c.*43G>A (n.*43G>A) | dbSNP |
| 15 | g.38351707G= | CA2170812821 | SPRED1 | c.*43G= (n.*43G=) | |
| 15 | g.38351709_38351712dup | CA2575673328 | SPRED1 | c.*45_*48dup (n.*45_*48dup) | |
| 15 | g.38351709A= | CA2170812822 | SPRED1 | c.*45A= (n.*45A=) | |
| 15 | g.38351709A>C | CA2730605980 | SPRED1 | c.*45A>C (n.*45A>C) | dbSNP |
| 15 | g.38351709A>T | CA712577107 | SPRED1 | c.*45A>T (n.*45A>T) | dbSNP |
| 15 | g.38351710T>C | CA2627716229 | SPRED1 | c.*46T>C (n.*46T>C) | gnomAD v4 |
| 15 | g.38351710T>G | CA2540165664 | SPRED1 | c.*46T>G (n.*46T>G) | |
| 15 | g.38351711T>C | CA7470268 | SPRED1 | c.*47T>C (n.*47T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351711T= | CA2170812823 | SPRED1 | c.*47T= (n.*47T=) | |
| 15 | g.38351712A= | CA2170812824 | SPRED1 | c.*48A= (n.*48A=) | |
| 15 | g.38351712A>G | CA7470269 | SPRED1 | c.*48A>G (n.*48A>G) | dbSNP ExAC gnomAD v2 |
| 15 | g.38351713G>T | CA655988885 | SPRED1 | c.*49G>T (n.*49G>T) | COSMIC |
| 15 | g.38351716A>G | CA2627716230 | SPRED1 | c.*52A>G (n.*52A>G) | gnomAD v4 |
| 15 | g.38351717A>T | CA2627716231 | SPRED1 | c.*53A>T (n.*53A>T) | gnomAD v4 |
| 15 | g.38351721G>A | CA2627716232 | SPRED1 | c.*57G>A (n.*57G>A) | gnomAD v4 |
| 15 | g.38351724T>C | CA2170812826 | SPRED1 | c.*60T>C (n.*60T>C) | dbSNP |
| 15 | g.38351724T= | CA2170812825 | SPRED1 | c.*60T= (n.*60T=) | |
| 15 | g.38351725T>A | CA2627716233 | SPRED1 | c.*61T>A (n.*61T>A) | gnomAD v4 |
| 15 | g.38351727G>A | CA712577114 | SPRED1 | c.*63G>A (n.*63G>A) | dbSNP gnomAD v4 |
| 15 | g.38351727G= | CA2170812827 | SPRED1 | c.*63G= (n.*63G=) | |
| 15 | g.38351727G>T | CA617506044 | SPRED1 | c.*63G>T (n.*63G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351728T>C | CA269293467 | SPRED1 | c.*64T>C (n.*64T>C) | dbSNP |
| 15 | g.38351728T= | CA2170812828 | SPRED1 | c.*64T= (n.*64T=) |