| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428718G>A | CA428873372 | PROC | c.1158G>A (p.Leu386=) c.482G>A c.1260G>A (p.Leu420=) c.1341G>A (p.Leu447=) c.1323G>A (p.Leu441=) c.1221G>A (p.Leu407=) n.1332-454C>T c.1401G>A (p.Leu467=) c.1503G>A (p.Leu501=) c.1443G>A (p.Leu481=) n.3607-454C>T n.4043-454C>T c.1326G>A (p.Leu442=) c.1344G>A (p.Leu448=) c.1101G>A (p.Leu367=) c.1134G>A (p.Leu378=) c.1152G>A (p.Leu384=) | |
| 2 | g.127428718G>C | CA428873374 | PROC | c.1158G>C (p.Leu386=) c.482G>C c.1260G>C (p.Leu420=) c.1341G>C (p.Leu447=) c.1323G>C (p.Leu441=) c.1221G>C (p.Leu407=) n.1332-454C>G c.1401G>C (p.Leu467=) c.1503G>C (p.Leu501=) c.1443G>C (p.Leu481=) n.3607-454C>G n.4043-454C>G c.1326G>C (p.Leu442=) c.1344G>C (p.Leu448=) c.1101G>C (p.Leu367=) c.1134G>C (p.Leu378=) c.1152G>C (p.Leu384=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127428718G= | CA1286884603 | PROC | c.1158G= (p.Leu386=) c.482G= c.1260G= (p.Leu420=) c.1341G= (p.Leu447=) c.1323G= (p.Leu441=) c.1221G= (p.Leu407=) n.1332-454C= c.1401G= (p.Leu467=) c.1503G= (p.Leu501=) c.1443G= (p.Leu481=) n.3607-454C= n.4043-454C= c.1326G= (p.Leu442=) c.1344G= (p.Leu448=) c.1101G= (p.Leu367=) c.1134G= (p.Leu378=) c.1152G= (p.Leu384=) | |
| 2 | g.127428718G>T | CA428873373 | PROC | c.1158G>T (p.Leu386=) c.482G>T c.1260G>T (p.Leu420=) c.1341G>T (p.Leu447=) c.1323G>T (p.Leu441=) c.1221G>T (p.Leu407=) n.1332-454C>A c.1401G>T (p.Leu467=) c.1503G>T (p.Leu501=) c.1443G>T (p.Leu481=) n.3607-454C>A n.4043-454C>A c.1326G>T (p.Leu442=) c.1344G>T (p.Leu448=) c.1101G>T (p.Leu367=) c.1134G>T (p.Leu378=) c.1152G>T (p.Leu384=) | |
| 2 | g.127428719T>A | CA348406063 | PROC | c.1159T>A (p.Cys387Ser) c.483T>A c.1261T>A (p.Cys421Ser) c.1342T>A (p.Cys448Ser) c.1324T>A (p.Cys442Ser) c.1222T>A (p.Cys408Ser) n.1332-455A>T c.1402T>A (p.Cys468Ser) c.1504T>A (p.Cys502Ser) c.1444T>A (p.Cys482Ser) n.3607-455A>T n.4043-455A>T c.1327T>A (p.Cys443Ser) c.1345T>A (p.Cys449Ser) c.1102T>A (p.Cys368Ser) c.1135T>A (p.Cys379Ser) c.1153T>A (p.Cys385Ser) | |
| 2 | g.127428719T>C | CA348406067 | PROC | c.1159T>C (p.Cys387Arg) c.483T>C c.1261T>C (p.Cys421Arg) c.1342T>C (p.Cys448Arg) c.1324T>C (p.Cys442Arg) c.1222T>C (p.Cys408Arg) n.1332-455A>G c.1402T>C (p.Cys468Arg) c.1504T>C (p.Cys502Arg) c.1444T>C (p.Cys482Arg) n.3607-455A>G n.4043-455A>G c.1327T>C (p.Cys443Arg) c.1345T>C (p.Cys449Arg) c.1102T>C (p.Cys368Arg) c.1135T>C (p.Cys379Arg) c.1153T>C (p.Cys385Arg) | |
| 2 | g.127428719T>G | CA348406064 | PROC | c.1159T>G (p.Cys387Gly) c.483T>G c.1261T>G (p.Cys421Gly) c.1342T>G (p.Cys448Gly) c.1324T>G (p.Cys442Gly) c.1222T>G (p.Cys408Gly) n.1332-455A>C c.1402T>G (p.Cys468Gly) c.1504T>G (p.Cys502Gly) c.1444T>G (p.Cys482Gly) n.3607-455A>C n.4043-455A>C c.1327T>G (p.Cys443Gly) c.1345T>G (p.Cys449Gly) c.1102T>G (p.Cys368Gly) c.1135T>G (p.Cys379Gly) c.1153T>G (p.Cys385Gly) | |
| 2 | g.127428720G>A | CA348406069 | PROC | c.1160G>A (p.Cys387Tyr) c.484G>A c.1262G>A (p.Cys421Tyr) c.1343G>A (p.Cys448Tyr) c.1325G>A (p.Cys442Tyr) c.1223G>A (p.Cys408Tyr) n.1332-456C>T c.1403G>A (p.Cys468Tyr) c.1505G>A (p.Cys502Tyr) c.1445G>A (p.Cys482Tyr) n.3607-456C>T n.4043-456C>T c.1328G>A (p.Cys443Tyr) c.1346G>A (p.Cys449Tyr) c.1103G>A (p.Cys368Tyr) c.1136G>A (p.Cys379Tyr) c.1154G>A (p.Cys385Tyr) | gnomAD v4 |
| 2 | g.127428720G>C | CA348406070 | PROC | c.1160G>C (p.Cys387Ser) c.484G>C c.1262G>C (p.Cys421Ser) c.1343G>C (p.Cys448Ser) c.1325G>C (p.Cys442Ser) c.1223G>C (p.Cys408Ser) n.1332-456C>G c.1403G>C (p.Cys468Ser) c.1505G>C (p.Cys502Ser) c.1445G>C (p.Cys482Ser) n.3607-456C>G n.4043-456C>G c.1328G>C (p.Cys443Ser) c.1346G>C (p.Cys449Ser) c.1103G>C (p.Cys368Ser) c.1136G>C (p.Cys379Ser) c.1154G>C (p.Cys385Ser) | |
| 2 | g.127428720G>T | CA348406071 | PROC | c.1160G>T (p.Cys387Phe) c.484G>T c.1262G>T (p.Cys421Phe) c.1343G>T (p.Cys448Phe) c.1325G>T (p.Cys442Phe) c.1223G>T (p.Cys408Phe) n.1332-456C>A c.1403G>T (p.Cys468Phe) c.1505G>T (p.Cys502Phe) c.1445G>T (p.Cys482Phe) n.3607-456C>A n.4043-456C>A c.1328G>T (p.Cys443Phe) c.1346G>T (p.Cys449Phe) c.1103G>T (p.Cys368Phe) c.1136G>T (p.Cys379Phe) c.1154G>T (p.Cys385Phe) | |
| 2 | g.127428721T>A | CA348406074 | PROC | c.1161T>A (p.Cys387Ter) c.485T>A c.1263T>A (p.Cys421Ter) c.1344T>A (p.Cys448Ter) c.1326T>A (p.Cys442Ter) c.1224T>A (p.Cys408Ter) n.1332-457A>T c.1404T>A (p.Cys468Ter) c.1506T>A (p.Cys502Ter) c.1446T>A (p.Cys482Ter) n.3607-457A>T n.4043-457A>T c.1329T>A (p.Cys443Ter) c.1347T>A (p.Cys449Ter) c.1104T>A (p.Cys368Ter) c.1137T>A (p.Cys379Ter) c.1155T>A (p.Cys385Ter) | |
| 2 | g.127428721T>C | CA1859533 | PROC | c.1161T>C (p.Cys387=) c.485T>C c.1263T>C (p.Cys421=) c.1344T>C (p.Cys448=) c.1326T>C (p.Cys442=) c.1224T>C (p.Cys408=) n.1332-457A>G c.1404T>C (p.Cys468=) c.1506T>C (p.Cys502=) c.1446T>C (p.Cys482=) n.3607-457A>G n.4043-457A>G c.1329T>C (p.Cys443=) c.1347T>C (p.Cys449=) c.1104T>C (p.Cys368=) c.1137T>C (p.Cys379=) c.1155T>C (p.Cys385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428721T>G | CA348406077 | PROC | c.1161T>G (p.Cys387Trp) c.485T>G c.1263T>G (p.Cys421Trp) c.1344T>G (p.Cys448Trp) c.1326T>G (p.Cys442Trp) c.1224T>G (p.Cys408Trp) n.1332-457A>C c.1404T>G (p.Cys468Trp) c.1506T>G (p.Cys502Trp) c.1446T>G (p.Cys482Trp) n.3607-457A>C n.4043-457A>C c.1329T>G (p.Cys443Trp) c.1347T>G (p.Cys449Trp) c.1104T>G (p.Cys368Trp) c.1137T>G (p.Cys379Trp) c.1155T>G (p.Cys385Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127428721T= | CA1286884604 | PROC | c.1161T= (p.Cys387=) c.485T= c.1263T= (p.Cys421=) c.1344T= (p.Cys448=) c.1326T= (p.Cys442=) c.1224T= (p.Cys408=) n.1332-457A= c.1404T= (p.Cys468=) c.1506T= (p.Cys502=) c.1446T= (p.Cys482=) n.3607-457A= n.4043-457A= c.1329T= (p.Cys443=) c.1347T= (p.Cys449=) c.1104T= (p.Cys368=) c.1137T= (p.Cys379=) c.1155T= (p.Cys385=) | |
| 2 | g.127428722G>A | CA348406080 | PROC | c.1162G>A (p.Ala388Thr) c.486G>A c.1264G>A (p.Ala422Thr) c.1345G>A (p.Ala449Thr) c.1327G>A (p.Ala443Thr) c.1225G>A (p.Ala409Thr) n.1332-458C>T c.1405G>A (p.Ala469Thr) c.1507G>A (p.Ala503Thr) c.1447G>A (p.Ala483Thr) n.3607-458C>T n.4043-458C>T c.1330G>A (p.Ala444Thr) c.1348G>A (p.Ala450Thr) c.1105G>A (p.Ala369Thr) c.1138G>A (p.Ala380Thr) c.1156G>A (p.Ala386Thr) | gnomAD v4 |
| 2 | g.127428722G>C | CA348406084 | PROC | c.1162G>C (p.Ala388Pro) c.486G>C c.1264G>C (p.Ala422Pro) c.1345G>C (p.Ala449Pro) c.1327G>C (p.Ala443Pro) c.1225G>C (p.Ala409Pro) n.1332-458C>G c.1405G>C (p.Ala469Pro) c.1507G>C (p.Ala503Pro) c.1447G>C (p.Ala483Pro) n.3607-458C>G n.4043-458C>G c.1330G>C (p.Ala444Pro) c.1348G>C (p.Ala450Pro) c.1105G>C (p.Ala369Pro) c.1138G>C (p.Ala380Pro) c.1156G>C (p.Ala386Pro) | |
| 2 | g.127428722G>T | CA348406086 | PROC | c.1162G>T (p.Ala388Ser) c.486G>T c.1264G>T (p.Ala422Ser) c.1345G>T (p.Ala449Ser) c.1327G>T (p.Ala443Ser) c.1225G>T (p.Ala409Ser) n.1332-458C>A c.1405G>T (p.Ala469Ser) c.1507G>T (p.Ala503Ser) c.1447G>T (p.Ala483Ser) n.3607-458C>A n.4043-458C>A c.1330G>T (p.Ala444Ser) c.1348G>T (p.Ala450Ser) c.1105G>T (p.Ala369Ser) c.1138G>T (p.Ala380Ser) c.1156G>T (p.Ala386Ser) | gnomAD v4 |
| 2 | g.127428723C>A | CA348406087 | PROC | c.1163C>A (p.Ala388Glu) c.487C>A c.1265C>A (p.Ala422Glu) c.1346C>A (p.Ala449Glu) c.1328C>A (p.Ala443Glu) c.1226C>A (p.Ala409Glu) n.1332-459G>T c.1406C>A (p.Ala469Glu) c.1508C>A (p.Ala503Glu) c.1448C>A (p.Ala483Glu) n.3607-459G>T n.4043-459G>T c.1331C>A (p.Ala444Glu) c.1349C>A (p.Ala450Glu) c.1106C>A (p.Ala369Glu) c.1139C>A (p.Ala380Glu) c.1157C>A (p.Ala386Glu) | |
| 2 | g.127428723C= | CA1286884605 | PROC | c.1163C= (p.Ala388=) c.487C= c.1265C= (p.Ala422=) c.1346C= (p.Ala449=) c.1328C= (p.Ala443=) c.1226C= (p.Ala409=) n.1332-459G= c.1406C= (p.Ala469=) c.1508C= (p.Ala503=) c.1448C= (p.Ala483=) n.3607-459G= n.4043-459G= c.1331C= (p.Ala444=) c.1349C= (p.Ala450=) c.1106C= (p.Ala369=) c.1139C= (p.Ala380=) c.1157C= (p.Ala386=) | |
| 2 | g.127428723C>G | CA1859534 | PROC | c.1163C>G (p.Ala388Gly) c.487C>G c.1265C>G (p.Ala422Gly) c.1346C>G (p.Ala449Gly) c.1328C>G (p.Ala443Gly) c.1226C>G (p.Ala409Gly) n.1332-459G>C c.1406C>G (p.Ala469Gly) c.1508C>G (p.Ala503Gly) c.1448C>G (p.Ala483Gly) n.3607-459G>C n.4043-459G>C c.1331C>G (p.Ala444Gly) c.1349C>G (p.Ala450Gly) c.1106C>G (p.Ala369Gly) c.1139C>G (p.Ala380Gly) c.1157C>G (p.Ala386Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428723C>T | CA55351245 | PROC | c.1163C>T (p.Ala388Val) c.487C>T c.1265C>T (p.Ala422Val) c.1346C>T (p.Ala449Val) c.1328C>T (p.Ala443Val) c.1226C>T (p.Ala409Val) n.1332-459G>A c.1406C>T (p.Ala469Val) c.1508C>T (p.Ala503Val) c.1448C>T (p.Ala483Val) n.3607-459G>A n.4043-459G>A c.1331C>T (p.Ala444Val) c.1349C>T (p.Ala450Val) c.1106C>T (p.Ala369Val) c.1139C>T (p.Ala380Val) c.1157C>T (p.Ala386Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127428724G>A | CA1859535 | PROC | c.1164G>A (p.Ala388=) c.488G>A c.1266G>A (p.Ala422=) c.1347G>A (p.Ala449=) c.1329G>A (p.Ala443=) c.1227G>A (p.Ala409=) n.1332-460C>T c.1407G>A (p.Ala469=) c.1509G>A (p.Ala503=) c.1449G>A (p.Ala483=) n.3607-460C>T n.4043-460C>T c.1332G>A (p.Ala444=) c.1350G>A (p.Ala450=) c.1107G>A (p.Ala369=) c.1140G>A (p.Ala380=) c.1158G>A (p.Ala386=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428724G>C | CA428873411 | PROC | c.1164G>C (p.Ala388=) c.488G>C c.1266G>C (p.Ala422=) c.1347G>C (p.Ala449=) c.1329G>C (p.Ala443=) c.1227G>C (p.Ala409=) n.1332-460C>G c.1407G>C (p.Ala469=) c.1509G>C (p.Ala503=) c.1449G>C (p.Ala483=) n.3607-460C>G n.4043-460C>G c.1332G>C (p.Ala444=) c.1350G>C (p.Ala450=) c.1107G>C (p.Ala369=) c.1140G>C (p.Ala380=) c.1158G>C (p.Ala386=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428724G= | CA1286884606 | PROC | c.1164G= (p.Ala388=) c.488G= c.1266G= (p.Ala422=) c.1347G= (p.Ala449=) c.1329G= (p.Ala443=) c.1227G= (p.Ala409=) n.1332-460C= c.1407G= (p.Ala469=) c.1509G= (p.Ala503=) c.1449G= (p.Ala483=) n.3607-460C= n.4043-460C= c.1332G= (p.Ala444=) c.1350G= (p.Ala450=) c.1107G= (p.Ala369=) c.1140G= (p.Ala380=) c.1158G= (p.Ala386=) | |
| 2 | g.127428724G>T | CA428873413 | PROC | c.1164G>T (p.Ala388=) c.488G>T c.1266G>T (p.Ala422=) c.1347G>T (p.Ala449=) c.1329G>T (p.Ala443=) c.1227G>T (p.Ala409=) n.1332-460C>A c.1407G>T (p.Ala469=) c.1509G>T (p.Ala503=) c.1449G>T (p.Ala483=) n.3607-460C>A n.4043-460C>A c.1332G>T (p.Ala444=) c.1350G>T (p.Ala450=) c.1107G>T (p.Ala369=) c.1140G>T (p.Ala380=) c.1158G>T (p.Ala386=) | |
| 2 | g.127428725G>A | CA348406092 | PROC | c.1165G>A (p.Gly389Ser) c.489G>A c.1267G>A (p.Gly423Ser) c.1348G>A (p.Gly450Ser) c.1330G>A (p.Gly444Ser) c.1228G>A (p.Gly410Ser) n.1332-461C>T c.1408G>A (p.Gly470Ser) c.1510G>A (p.Gly504Ser) c.1450G>A (p.Gly484Ser) n.3607-461C>T n.4043-461C>T c.1333G>A (p.Gly445Ser) c.1351G>A (p.Gly451Ser) c.1108G>A (p.Gly370Ser) c.1141G>A (p.Gly381Ser) c.1159G>A (p.Gly387Ser) | |
| 2 | g.127428725G>C | CA348406094 | PROC | c.1165G>C (p.Gly389Arg) c.489G>C c.1267G>C (p.Gly423Arg) c.1348G>C (p.Gly450Arg) c.1330G>C (p.Gly444Arg) c.1228G>C (p.Gly410Arg) n.1332-461C>G c.1408G>C (p.Gly470Arg) c.1510G>C (p.Gly504Arg) c.1450G>C (p.Gly484Arg) n.3607-461C>G n.4043-461C>G c.1333G>C (p.Gly445Arg) c.1351G>C (p.Gly451Arg) c.1108G>C (p.Gly370Arg) c.1141G>C (p.Gly381Arg) c.1159G>C (p.Gly387Arg) | |
| 2 | g.127428725G>T | CA348406095 | PROC | c.1165G>T (p.Gly389Cys) c.489G>T c.1267G>T (p.Gly423Cys) c.1348G>T (p.Gly450Cys) c.1330G>T (p.Gly444Cys) c.1228G>T (p.Gly410Cys) n.1332-461C>A c.1408G>T (p.Gly470Cys) c.1510G>T (p.Gly504Cys) c.1450G>T (p.Gly484Cys) n.3607-461C>A n.4043-461C>A c.1333G>T (p.Gly445Cys) c.1351G>T (p.Gly451Cys) c.1108G>T (p.Gly370Cys) c.1141G>T (p.Gly381Cys) c.1159G>T (p.Gly387Cys) | |
| 2 | g.127428725_127428728delinsGGCA | CA1286884607 | PROC | c.1165_1168delinsGGCA (p.Gly389=) c.489_492delinsGGCA c.1267_1270delinsGGCA (p.Gly423=) c.1348_1351delinsGGCA (p.Gly450=) c.1330_1333delinsGGCA (p.Gly444=) c.1228_1231delinsGGCA (p.Gly410=) n.1332-464_1332-461delinsTGCC c.1408_1411delinsGGCA (p.Gly470=) c.1510_1513delinsGGCA (p.Gly504=) c.1450_1453delinsGGCA (p.Gly484=) n.3607-464_3607-461delinsTGCC n.4043-464_4043-461delinsTGCC c.1333_1336delinsGGCA (p.Gly445=) c.1351_1354delinsGGCA (p.Gly451=) c.1108_1111delinsGGCA (p.Gly370=) c.1141_1144delinsGGCA (p.Gly381=) c.1159_1162delinsGGCA (p.Gly387=) | |
| 2 | g.127428726G>A | CA348406096 | PROC | c.1166G>A (p.Gly389Asp) c.490G>A c.1268G>A (p.Gly423Asp) c.1349G>A (p.Gly450Asp) c.1331G>A (p.Gly444Asp) c.1229G>A (p.Gly410Asp) n.1332-462C>T c.1409G>A (p.Gly470Asp) c.1511G>A (p.Gly504Asp) c.1451G>A (p.Gly484Asp) n.3607-462C>T n.4043-462C>T c.1334G>A (p.Gly445Asp) c.1352G>A (p.Gly451Asp) c.1109G>A (p.Gly370Asp) c.1142G>A (p.Gly381Asp) c.1160G>A (p.Gly387Asp) | |
| 2 | g.127428726G>C | CA348406097 | PROC | c.1166G>C (p.Gly389Ala) c.490G>C c.1268G>C (p.Gly423Ala) c.1349G>C (p.Gly450Ala) c.1331G>C (p.Gly444Ala) c.1229G>C (p.Gly410Ala) n.1332-462C>G c.1409G>C (p.Gly470Ala) c.1511G>C (p.Gly504Ala) c.1451G>C (p.Gly484Ala) n.3607-462C>G n.4043-462C>G c.1334G>C (p.Gly445Ala) c.1352G>C (p.Gly451Ala) c.1109G>C (p.Gly370Ala) c.1142G>C (p.Gly381Ala) c.1160G>C (p.Gly387Ala) | ClinVar dbSNP gnomAD v4 |
| 2 | g.127428726G= | CA1286884608 | PROC | c.1166G= (p.Gly389=) c.490G= c.1268G= (p.Gly423=) c.1349G= (p.Gly450=) c.1331G= (p.Gly444=) c.1229G= (p.Gly410=) n.1332-462C= c.1409G= (p.Gly470=) c.1511G= (p.Gly504=) c.1451G= (p.Gly484=) n.3607-462C= n.4043-462C= c.1334G= (p.Gly445=) c.1352G= (p.Gly451=) c.1109G= (p.Gly370=) c.1142G= (p.Gly381=) c.1160G= (p.Gly387=) | |
| 2 | g.127428726G>T | CA348406098 | PROC | c.1166G>T (p.Gly389Val) c.490G>T c.1268G>T (p.Gly423Val) c.1349G>T (p.Gly450Val) c.1331G>T (p.Gly444Val) c.1229G>T (p.Gly410Val) n.1332-462C>A c.1409G>T (p.Gly470Val) c.1511G>T (p.Gly504Val) c.1451G>T (p.Gly484Val) n.3607-462C>A n.4043-462C>A c.1334G>T (p.Gly445Val) c.1352G>T (p.Gly451Val) c.1109G>T (p.Gly370Val) c.1142G>T (p.Gly381Val) c.1160G>T (p.Gly387Val) | |
| 2 | g.127428726_127428728del | CA536067747 | PROC | c.1166_1168del (p.Gly389_Ile390delinsVal) c.490_492del c.1268_1270del (p.Gly423_Ile424delinsVal) c.1349_1351del (p.Gly450_Ile451delinsVal) c.1331_1333del (p.Gly444_Ile445delinsVal) c.1229_1231del (p.Gly410_Ile411delinsVal) n.1332-464_1332-462del c.1409_1411del (p.Gly470_Ile471delinsVal) c.1511_1513del (p.Gly504_Ile505delinsVal) c.1451_1453del (p.Gly484_Ile485delinsVal) n.3607-464_3607-462del n.4043-464_4043-462del c.1334_1336del (p.Gly445_Ile446delinsVal) c.1352_1354del (p.Gly451_Ile452delinsVal) c.1109_1111del (p.Gly370_Ile371delinsVal) c.1142_1144del (p.Gly381_Ile382delinsVal) c.1160_1162del (p.Gly387_Ile388delinsVal) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127428727C>A | CA428873425 | PROC | c.1167C>A (p.Gly389=) c.491C>A c.1269C>A (p.Gly423=) c.1350C>A (p.Gly450=) c.1332C>A (p.Gly444=) c.1230C>A (p.Gly410=) n.1332-463G>T c.1410C>A (p.Gly470=) c.1512C>A (p.Gly504=) c.1452C>A (p.Gly484=) n.3607-463G>T n.4043-463G>T c.1335C>A (p.Gly445=) c.1353C>A (p.Gly451=) c.1110C>A (p.Gly370=) c.1143C>A (p.Gly381=) c.1161C>A (p.Gly387=) | |
| 2 | g.127428727C>G | CA428873426 | PROC | c.1167C>G (p.Gly389=) c.491C>G c.1269C>G (p.Gly423=) c.1350C>G (p.Gly450=) c.1332C>G (p.Gly444=) c.1230C>G (p.Gly410=) n.1332-463G>C c.1410C>G (p.Gly470=) c.1512C>G (p.Gly504=) c.1452C>G (p.Gly484=) n.3607-463G>C n.4043-463G>C c.1335C>G (p.Gly445=) c.1353C>G (p.Gly451=) c.1110C>G (p.Gly370=) c.1143C>G (p.Gly381=) c.1161C>G (p.Gly387=) | |
| 2 | g.127428727C>T | CA428873428 | PROC | c.1167C>T (p.Gly389=) c.491C>T c.1269C>T (p.Gly423=) c.1350C>T (p.Gly450=) c.1332C>T (p.Gly444=) c.1230C>T (p.Gly410=) n.1332-463G>A c.1410C>T (p.Gly470=) c.1512C>T (p.Gly504=) c.1452C>T (p.Gly484=) n.3607-463G>A n.4043-463G>A c.1335C>T (p.Gly445=) c.1353C>T (p.Gly451=) c.1110C>T (p.Gly370=) c.1143C>T (p.Gly381=) c.1161C>T (p.Gly387=) | |
| 2 | g.127428728A>C | CA348406104 | PROC | c.1168A>C (p.Ile390Leu) c.492A>C c.1270A>C (p.Ile424Leu) c.1351A>C (p.Ile451Leu) c.1333A>C (p.Ile445Leu) c.1231A>C (p.Ile411Leu) n.1332-464T>G c.1411A>C (p.Ile471Leu) c.1513A>C (p.Ile505Leu) c.1453A>C (p.Ile485Leu) n.3607-464T>G n.4043-464T>G c.1336A>C (p.Ile446Leu) c.1354A>C (p.Ile452Leu) c.1111A>C (p.Ile371Leu) c.1144A>C (p.Ile382Leu) c.1162A>C (p.Ile388Leu) | |
| 2 | g.127428728A>G | CA348406105 | PROC | c.1168A>G (p.Ile390Val) c.492A>G c.1270A>G (p.Ile424Val) c.1351A>G (p.Ile451Val) c.1333A>G (p.Ile445Val) c.1231A>G (p.Ile411Val) n.1332-464T>C c.1411A>G (p.Ile471Val) c.1513A>G (p.Ile505Val) c.1453A>G (p.Ile485Val) n.3607-464T>C n.4043-464T>C c.1336A>G (p.Ile446Val) c.1354A>G (p.Ile452Val) c.1111A>G (p.Ile371Val) c.1144A>G (p.Ile382Val) c.1162A>G (p.Ile388Val) | |
| 2 | g.127428728A>T | CA348406110 | PROC | c.1168A>T (p.Ile390Phe) c.492A>T c.1270A>T (p.Ile424Phe) c.1351A>T (p.Ile451Phe) c.1333A>T (p.Ile445Phe) c.1231A>T (p.Ile411Phe) n.1332-464T>A c.1411A>T (p.Ile471Phe) c.1513A>T (p.Ile505Phe) c.1453A>T (p.Ile485Phe) n.3607-464T>A n.4043-464T>A c.1336A>T (p.Ile446Phe) c.1354A>T (p.Ile452Phe) c.1111A>T (p.Ile371Phe) c.1144A>T (p.Ile382Phe) c.1162A>T (p.Ile388Phe) | |
| 2 | g.127428729T>A | CA55351258 | PROC | c.1169T>A (p.Ile390Asn) c.493T>A c.1271T>A (p.Ile424Asn) c.1352T>A (p.Ile451Asn) c.1334T>A (p.Ile445Asn) c.1232T>A (p.Ile411Asn) n.1332-465A>T c.1412T>A (p.Ile471Asn) c.1514T>A (p.Ile505Asn) c.1454T>A (p.Ile485Asn) n.3607-465A>T n.4043-465A>T c.1337T>A (p.Ile446Asn) c.1355T>A (p.Ile452Asn) c.1112T>A (p.Ile371Asn) c.1145T>A (p.Ile382Asn) c.1163T>A (p.Ile388Asn) | dbSNP gnomAD v4 |
| 2 | g.127428729T>C | CA348406113 | PROC | c.1169T>C (p.Ile390Thr) c.493T>C c.1271T>C (p.Ile424Thr) c.1352T>C (p.Ile451Thr) c.1334T>C (p.Ile445Thr) c.1232T>C (p.Ile411Thr) n.1332-465A>G c.1412T>C (p.Ile471Thr) c.1514T>C (p.Ile505Thr) c.1454T>C (p.Ile485Thr) n.3607-465A>G n.4043-465A>G c.1337T>C (p.Ile446Thr) c.1355T>C (p.Ile452Thr) c.1112T>C (p.Ile371Thr) c.1145T>C (p.Ile382Thr) c.1163T>C (p.Ile388Thr) | |
| 2 | g.127428729T>G | CA348406114 | PROC | c.1169T>G (p.Ile390Ser) c.493T>G c.1271T>G (p.Ile424Ser) c.1352T>G (p.Ile451Ser) c.1334T>G (p.Ile445Ser) c.1232T>G (p.Ile411Ser) n.1332-465A>C c.1412T>G (p.Ile471Ser) c.1514T>G (p.Ile505Ser) c.1454T>G (p.Ile485Ser) n.3607-465A>C n.4043-465A>C c.1337T>G (p.Ile446Ser) c.1355T>G (p.Ile452Ser) c.1112T>G (p.Ile371Ser) c.1145T>G (p.Ile382Ser) c.1163T>G (p.Ile388Ser) | |
| 2 | g.127428729T= | CA1286884609 | PROC | c.1169T= (p.Ile390=) c.493T= c.1271T= (p.Ile424=) c.1352T= (p.Ile451=) c.1334T= (p.Ile445=) c.1232T= (p.Ile411=) n.1332-465A= c.1412T= (p.Ile471=) c.1514T= (p.Ile505=) c.1454T= (p.Ile485=) n.3607-465A= n.4043-465A= c.1337T= (p.Ile446=) c.1355T= (p.Ile452=) c.1112T= (p.Ile371=) c.1145T= (p.Ile382=) c.1163T= (p.Ile388=) | |
| 2 | g.127428730C>A | CA428873443 | PROC | c.1170C>A (p.Ile390=) c.494C>A c.1272C>A (p.Ile424=) c.1353C>A (p.Ile451=) c.1335C>A (p.Ile445=) c.1233C>A (p.Ile411=) n.1332-466G>T c.1413C>A (p.Ile471=) c.1515C>A (p.Ile505=) c.1455C>A (p.Ile485=) n.3607-466G>T n.4043-466G>T c.1338C>A (p.Ile446=) c.1356C>A (p.Ile452=) c.1113C>A (p.Ile371=) c.1146C>A (p.Ile382=) c.1164C>A (p.Ile388=) | dbSNP |
| 2 | g.127428730C= | CA1286884610 | PROC | c.1170C= (p.Ile390=) c.494C= c.1272C= (p.Ile424=) c.1353C= (p.Ile451=) c.1335C= (p.Ile445=) c.1233C= (p.Ile411=) n.1332-466G= c.1413C= (p.Ile471=) c.1515C= (p.Ile505=) c.1455C= (p.Ile485=) n.3607-466G= n.4043-466G= c.1338C= (p.Ile446=) c.1356C= (p.Ile452=) c.1113C= (p.Ile371=) c.1146C= (p.Ile382=) c.1164C= (p.Ile388=) | |
| 2 | g.127428730C>G | CA348406115 | PROC | c.1170C>G (p.Ile390Met) c.494C>G c.1272C>G (p.Ile424Met) c.1353C>G (p.Ile451Met) c.1335C>G (p.Ile445Met) c.1233C>G (p.Ile411Met) n.1332-466G>C c.1413C>G (p.Ile471Met) c.1515C>G (p.Ile505Met) c.1455C>G (p.Ile485Met) n.3607-466G>C n.4043-466G>C c.1338C>G (p.Ile446Met) c.1356C>G (p.Ile452Met) c.1113C>G (p.Ile371Met) c.1146C>G (p.Ile382Met) c.1164C>G (p.Ile388Met) | |
| 2 | g.127428730C>T | CA428873448 | PROC | c.1170C>T (p.Ile390=) c.494C>T c.1272C>T (p.Ile424=) c.1353C>T (p.Ile451=) c.1335C>T (p.Ile445=) c.1233C>T (p.Ile411=) n.1332-466G>A c.1413C>T (p.Ile471=) c.1515C>T (p.Ile505=) c.1455C>T (p.Ile485=) n.3607-466G>A n.4043-466G>A c.1338C>T (p.Ile446=) c.1356C>T (p.Ile452=) c.1113C>T (p.Ile371=) c.1146C>T (p.Ile382=) c.1164C>T (p.Ile388=) | |
| 2 | g.127428731C>A | CA348406116 | PROC | c.1171C>A (p.Leu391Ile) c.495C>A c.1273C>A (p.Leu425Ile) c.1354C>A (p.Leu452Ile) c.1336C>A (p.Leu446Ile) c.1234C>A (p.Leu412Ile) n.1332-467G>T c.1414C>A (p.Leu472Ile) c.1516C>A (p.Leu506Ile) c.1456C>A (p.Leu486Ile) n.3607-467G>T n.4043-467G>T c.1339C>A (p.Leu447Ile) c.1357C>A (p.Leu453Ile) c.1114C>A (p.Leu372Ile) c.1147C>A (p.Leu383Ile) c.1165C>A (p.Leu389Ile) | dbSNP gnomAD v4 |
| 2 | g.127428731C= | CA1286884611 | PROC | c.1171C= (p.Leu391=) c.495C= c.1273C= (p.Leu425=) c.1354C= (p.Leu452=) c.1336C= (p.Leu446=) c.1234C= (p.Leu412=) n.1332-467G= c.1414C= (p.Leu472=) c.1516C= (p.Leu506=) c.1456C= (p.Leu486=) n.3607-467G= n.4043-467G= c.1339C= (p.Leu447=) c.1357C= (p.Leu453=) c.1114C= (p.Leu372=) c.1147C= (p.Leu383=) c.1165C= (p.Leu389=) |