| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428631C>A | CA428872986 | PROC | c.1071C>A (p.Thr357=) c.395C>A c.1173C>A (p.Thr391=) c.1254C>A (p.Thr418=) c.1236C>A (p.Thr412=) c.1134C>A (p.Thr378=) n.1332-367G>T c.1314C>A (p.Thr438=) c.1416C>A (p.Thr472=) c.1356C>A (p.Thr452=) n.3607-367G>T n.4043-367G>T c.1239C>A (p.Thr413=) c.1257C>A (p.Thr419=) c.1014C>A (p.Thr338=) c.1047C>A (p.Thr349=) c.1065C>A (p.Thr355=) | |
| 2 | g.127428631C>G | CA428872989 | PROC | c.1071C>G (p.Thr357=) c.395C>G c.1173C>G (p.Thr391=) c.1254C>G (p.Thr418=) c.1236C>G (p.Thr412=) c.1134C>G (p.Thr378=) n.1332-367G>C c.1314C>G (p.Thr438=) c.1416C>G (p.Thr472=) c.1356C>G (p.Thr452=) n.3607-367G>C n.4043-367G>C c.1239C>G (p.Thr413=) c.1257C>G (p.Thr419=) c.1014C>G (p.Thr338=) c.1047C>G (p.Thr349=) c.1065C>G (p.Thr355=) | |
| 2 | g.127428631C>T | CA428872991 | PROC | c.1071C>T (p.Thr357=) c.395C>T c.1173C>T (p.Thr391=) c.1254C>T (p.Thr418=) c.1236C>T (p.Thr412=) c.1134C>T (p.Thr378=) n.1332-367G>A c.1314C>T (p.Thr438=) c.1416C>T (p.Thr472=) c.1356C>T (p.Thr452=) n.3607-367G>A n.4043-367G>A c.1239C>T (p.Thr413=) c.1257C>T (p.Thr419=) c.1014C>T (p.Thr338=) c.1047C>T (p.Thr349=) c.1065C>T (p.Thr355=) | |
| 2 | g.127428632T>A | CA348405700 | PROC | c.1072T>A (p.Phe358Ile) c.396T>A c.1174T>A (p.Phe392Ile) c.1255T>A (p.Phe419Ile) c.1237T>A (p.Phe413Ile) c.1135T>A (p.Phe379Ile) n.1332-368A>T c.1315T>A (p.Phe439Ile) c.1417T>A (p.Phe473Ile) c.1357T>A (p.Phe453Ile) n.3607-368A>T n.4043-368A>T c.1240T>A (p.Phe414Ile) c.1258T>A (p.Phe420Ile) c.1015T>A (p.Phe339Ile) c.1048T>A (p.Phe350Ile) c.1066T>A (p.Phe356Ile) | |
| 2 | g.127428632T>C | CA348405701 | PROC | c.1072T>C (p.Phe358Leu) c.396T>C c.1174T>C (p.Phe392Leu) c.1255T>C (p.Phe419Leu) c.1237T>C (p.Phe413Leu) c.1135T>C (p.Phe379Leu) n.1332-368A>G c.1315T>C (p.Phe439Leu) c.1417T>C (p.Phe473Leu) c.1357T>C (p.Phe453Leu) n.3607-368A>G n.4043-368A>G c.1240T>C (p.Phe414Leu) c.1258T>C (p.Phe420Leu) c.1015T>C (p.Phe339Leu) c.1048T>C (p.Phe350Leu) c.1066T>C (p.Phe356Leu) | dbSNP gnomAD v2 |
| 2 | g.127428632T>G | CA348405702 | PROC | c.1072T>G (p.Phe358Val) c.396T>G c.1174T>G (p.Phe392Val) c.1255T>G (p.Phe419Val) c.1237T>G (p.Phe413Val) c.1135T>G (p.Phe379Val) n.1332-368A>C c.1315T>G (p.Phe439Val) c.1417T>G (p.Phe473Val) c.1357T>G (p.Phe453Val) n.3607-368A>C n.4043-368A>C c.1240T>G (p.Phe414Val) c.1258T>G (p.Phe420Val) c.1015T>G (p.Phe339Val) c.1048T>G (p.Phe350Val) c.1066T>G (p.Phe356Val) | |
| 2 | g.127428632T= | CA1286884561 | PROC | c.1072T= (p.Phe358=) c.396T= c.1174T= (p.Phe392=) c.1255T= (p.Phe419=) c.1237T= (p.Phe413=) c.1135T= (p.Phe379=) n.1332-368A= c.1315T= (p.Phe439=) c.1417T= (p.Phe473=) c.1357T= (p.Phe453=) n.3607-368A= n.4043-368A= c.1240T= (p.Phe414=) c.1258T= (p.Phe420=) c.1015T= (p.Phe339=) c.1048T= (p.Phe350=) c.1066T= (p.Phe356=) | |
| 2 | g.127428633T>A | CA348405703 | PROC | c.1073T>A (p.Phe358Tyr) c.397T>A c.1175T>A (p.Phe392Tyr) c.1256T>A (p.Phe419Tyr) c.1238T>A (p.Phe413Tyr) c.1136T>A (p.Phe379Tyr) n.1332-369A>T c.1316T>A (p.Phe439Tyr) c.1418T>A (p.Phe473Tyr) c.1358T>A (p.Phe453Tyr) n.3607-369A>T n.4043-369A>T c.1241T>A (p.Phe414Tyr) c.1259T>A (p.Phe420Tyr) c.1016T>A (p.Phe339Tyr) c.1049T>A (p.Phe350Tyr) c.1067T>A (p.Phe356Tyr) | |
| 2 | g.127428633T>C | CA348405704 | PROC | c.1073T>C (p.Phe358Ser) c.397T>C c.1175T>C (p.Phe392Ser) c.1256T>C (p.Phe419Ser) c.1238T>C (p.Phe413Ser) c.1136T>C (p.Phe379Ser) n.1332-369A>G c.1316T>C (p.Phe439Ser) c.1418T>C (p.Phe473Ser) c.1358T>C (p.Phe453Ser) n.3607-369A>G n.4043-369A>G c.1241T>C (p.Phe414Ser) c.1259T>C (p.Phe420Ser) c.1016T>C (p.Phe339Ser) c.1049T>C (p.Phe350Ser) c.1067T>C (p.Phe356Ser) | |
| 2 | g.127428633T>G | CA348405705 | PROC | c.1073T>G (p.Phe358Cys) c.397T>G c.1175T>G (p.Phe392Cys) c.1256T>G (p.Phe419Cys) c.1238T>G (p.Phe413Cys) c.1136T>G (p.Phe379Cys) n.1332-369A>C c.1316T>G (p.Phe439Cys) c.1418T>G (p.Phe473Cys) c.1358T>G (p.Phe453Cys) n.3607-369A>C n.4043-369A>C c.1241T>G (p.Phe414Cys) c.1259T>G (p.Phe420Cys) c.1016T>G (p.Phe339Cys) c.1049T>G (p.Phe350Cys) c.1067T>G (p.Phe356Cys) | |
| 2 | g.127428634C>A | CA55351063 | PROC | c.1074C>A (p.Phe358Leu) c.398C>A c.1176C>A (p.Phe392Leu) c.1257C>A (p.Phe419Leu) c.1239C>A (p.Phe413Leu) c.1137C>A (p.Phe379Leu) n.1332-370G>T c.1317C>A (p.Phe439Leu) c.1419C>A (p.Phe473Leu) c.1359C>A (p.Phe453Leu) n.3607-370G>T n.4043-370G>T c.1242C>A (p.Phe414Leu) c.1260C>A (p.Phe420Leu) c.1017C>A (p.Phe339Leu) c.1050C>A (p.Phe350Leu) c.1068C>A (p.Phe356Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428634C= | CA1286884562 | PROC | c.1074C= (p.Phe358=) c.398C= c.1176C= (p.Phe392=) c.1257C= (p.Phe419=) c.1239C= (p.Phe413=) c.1137C= (p.Phe379=) n.1332-370G= c.1317C= (p.Phe439=) c.1419C= (p.Phe473=) c.1359C= (p.Phe453=) n.3607-370G= n.4043-370G= c.1242C= (p.Phe414=) c.1260C= (p.Phe420=) c.1017C= (p.Phe339=) c.1050C= (p.Phe350=) c.1068C= (p.Phe356=) | |
| 2 | g.127428634C>G | CA348405706 | PROC | c.1074C>G (p.Phe358Leu) c.398C>G c.1176C>G (p.Phe392Leu) c.1257C>G (p.Phe419Leu) c.1239C>G (p.Phe413Leu) c.1137C>G (p.Phe379Leu) n.1332-370G>C c.1317C>G (p.Phe439Leu) c.1419C>G (p.Phe473Leu) c.1359C>G (p.Phe453Leu) n.3607-370G>C n.4043-370G>C c.1242C>G (p.Phe414Leu) c.1260C>G (p.Phe420Leu) c.1017C>G (p.Phe339Leu) c.1050C>G (p.Phe350Leu) c.1068C>G (p.Phe356Leu) | |
| 2 | g.127428634C>T | CA1859517 | PROC | c.1074C>T (p.Phe358=) c.398C>T c.1176C>T (p.Phe392=) c.1257C>T (p.Phe419=) c.1239C>T (p.Phe413=) c.1137C>T (p.Phe379=) n.1332-370G>A c.1317C>T (p.Phe439=) c.1419C>T (p.Phe473=) c.1359C>T (p.Phe453=) n.3607-370G>A n.4043-370G>A c.1242C>T (p.Phe414=) c.1260C>T (p.Phe420=) c.1017C>T (p.Phe339=) c.1050C>T (p.Phe350=) c.1068C>T (p.Phe356=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428635G>A | CA1859518 | PROC | c.1075G>A (p.Val359Ile) c.399G>A c.1177G>A (p.Val393Ile) c.1258G>A (p.Val420Ile) c.1240G>A (p.Val414Ile) c.1138G>A (p.Val380Ile) n.1332-371C>T c.1318G>A (p.Val440Ile) c.1420G>A (p.Val474Ile) c.1360G>A (p.Val454Ile) n.3607-371C>T n.4043-371C>T c.1243G>A (p.Val415Ile) c.1261G>A (p.Val421Ile) c.1018G>A (p.Val340Ile) c.1051G>A (p.Val351Ile) c.1069G>A (p.Val357Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.127428635G>C | CA348405707 | PROC | c.1075G>C (p.Val359Leu) c.399G>C c.1177G>C (p.Val393Leu) c.1258G>C (p.Val420Leu) c.1240G>C (p.Val414Leu) c.1138G>C (p.Val380Leu) n.1332-371C>G c.1318G>C (p.Val440Leu) c.1420G>C (p.Val474Leu) c.1360G>C (p.Val454Leu) n.3607-371C>G n.4043-371C>G c.1243G>C (p.Val415Leu) c.1261G>C (p.Val421Leu) c.1018G>C (p.Val340Leu) c.1051G>C (p.Val351Leu) c.1069G>C (p.Val357Leu) | |
| 2 | g.127428635G= | CA1286884563 | PROC | c.1075G= (p.Val359=) c.399G= c.1177G= (p.Val393=) c.1258G= (p.Val420=) c.1240G= (p.Val414=) c.1138G= (p.Val380=) n.1332-371C= c.1318G= (p.Val440=) c.1420G= (p.Val474=) c.1360G= (p.Val454=) n.3607-371C= n.4043-371C= c.1243G= (p.Val415=) c.1261G= (p.Val421=) c.1018G= (p.Val340=) c.1051G= (p.Val351=) c.1069G= (p.Val357=) | |
| 2 | g.127428635G>T | CA1859519 | PROC | c.1075G>T (p.Val359Phe) c.399G>T c.1177G>T (p.Val393Phe) c.1258G>T (p.Val420Phe) c.1240G>T (p.Val414Phe) c.1138G>T (p.Val380Phe) n.1332-371C>A c.1318G>T (p.Val440Phe) c.1420G>T (p.Val474Phe) c.1360G>T (p.Val454Phe) n.3607-371C>A n.4043-371C>A c.1243G>T (p.Val415Phe) c.1261G>T (p.Val421Phe) c.1018G>T (p.Val340Phe) c.1051G>T (p.Val351Phe) c.1069G>T (p.Val357Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127428636T>A | CA348405708 | PROC | c.1076T>A (p.Val359Asp) c.400T>A c.1178T>A (p.Val393Asp) c.1259T>A (p.Val420Asp) c.1241T>A (p.Val414Asp) c.1139T>A (p.Val380Asp) n.1332-372A>T c.1319T>A (p.Val440Asp) c.1421T>A (p.Val474Asp) c.1361T>A (p.Val454Asp) n.3607-372A>T n.4043-372A>T c.1244T>A (p.Val415Asp) c.1262T>A (p.Val421Asp) c.1019T>A (p.Val340Asp) c.1052T>A (p.Val351Asp) c.1070T>A (p.Val357Asp) | |
| 2 | g.127428636T>C | CA348405709 | PROC | c.1076T>C (p.Val359Ala) c.400T>C c.1178T>C (p.Val393Ala) c.1259T>C (p.Val420Ala) c.1241T>C (p.Val414Ala) c.1139T>C (p.Val380Ala) n.1332-372A>G c.1319T>C (p.Val440Ala) c.1421T>C (p.Val474Ala) c.1361T>C (p.Val454Ala) n.3607-372A>G n.4043-372A>G c.1244T>C (p.Val415Ala) c.1262T>C (p.Val421Ala) c.1019T>C (p.Val340Ala) c.1052T>C (p.Val351Ala) c.1070T>C (p.Val357Ala) | |
| 2 | g.127428636T>G | CA348405710 | PROC | c.1076T>G (p.Val359Gly) c.400T>G c.1178T>G (p.Val393Gly) c.1259T>G (p.Val420Gly) c.1241T>G (p.Val414Gly) c.1139T>G (p.Val380Gly) n.1332-372A>C c.1319T>G (p.Val440Gly) c.1421T>G (p.Val474Gly) c.1361T>G (p.Val454Gly) n.3607-372A>C n.4043-372A>C c.1244T>G (p.Val415Gly) c.1262T>G (p.Val421Gly) c.1019T>G (p.Val340Gly) c.1052T>G (p.Val351Gly) c.1070T>G (p.Val357Gly) | |
| 2 | g.127428637C>A | CA428873018 | PROC | c.1077C>A (p.Val359=) c.401C>A c.1179C>A (p.Val393=) c.1260C>A (p.Val420=) c.1242C>A (p.Val414=) c.1140C>A (p.Val380=) n.1332-373G>T c.1320C>A (p.Val440=) c.1422C>A (p.Val474=) c.1362C>A (p.Val454=) n.3607-373G>T n.4043-373G>T c.1245C>A (p.Val415=) c.1263C>A (p.Val421=) c.1020C>A (p.Val340=) c.1053C>A (p.Val351=) c.1071C>A (p.Val357=) | |
| 2 | g.127428637C= | CA1286884564 | PROC | c.1077C= (p.Val359=) c.401C= c.1179C= (p.Val393=) c.1260C= (p.Val420=) c.1242C= (p.Val414=) c.1140C= (p.Val380=) n.1332-373G= c.1320C= (p.Val440=) c.1422C= (p.Val474=) c.1362C= (p.Val454=) n.3607-373G= n.4043-373G= c.1245C= (p.Val415=) c.1263C= (p.Val421=) c.1020C= (p.Val340=) c.1053C= (p.Val351=) c.1071C= (p.Val357=) | |
| 2 | g.127428637C>G | CA1859520 | PROC | c.1077C>G (p.Val359=) c.401C>G c.1179C>G (p.Val393=) c.1260C>G (p.Val420=) c.1242C>G (p.Val414=) c.1140C>G (p.Val380=) n.1332-373G>C c.1320C>G (p.Val440=) c.1422C>G (p.Val474=) c.1362C>G (p.Val454=) n.3607-373G>C n.4043-373G>C c.1245C>G (p.Val415=) c.1263C>G (p.Val421=) c.1020C>G (p.Val340=) c.1053C>G (p.Val351=) c.1071C>G (p.Val357=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127428637C>T | CA428873017 | PROC | c.1077C>T (p.Val359=) c.401C>T c.1179C>T (p.Val393=) c.1260C>T (p.Val420=) c.1242C>T (p.Val414=) c.1140C>T (p.Val380=) n.1332-373G>A c.1320C>T (p.Val440=) c.1422C>T (p.Val474=) c.1362C>T (p.Val454=) n.3607-373G>A n.4043-373G>A c.1245C>T (p.Val415=) c.1263C>T (p.Val421=) c.1020C>T (p.Val340=) c.1053C>T (p.Val351=) c.1071C>T (p.Val357=) | |
| 2 | g.127428638C>A | CA348405711 | PROC | c.1078C>A (p.Leu360Ile) c.402C>A c.1180C>A (p.Leu394Ile) c.1261C>A (p.Leu421Ile) c.1243C>A (p.Leu415Ile) c.1141C>A (p.Leu381Ile) n.1332-374G>T c.1321C>A (p.Leu441Ile) c.1423C>A (p.Leu475Ile) c.1363C>A (p.Leu455Ile) n.3607-374G>T n.4043-374G>T c.1246C>A (p.Leu416Ile) c.1264C>A (p.Leu422Ile) c.1021C>A (p.Leu341Ile) c.1054C>A (p.Leu352Ile) c.1072C>A (p.Leu358Ile) | |
| 2 | g.127428638C>G | CA348405712 | PROC | c.1078C>G (p.Leu360Val) c.402C>G c.1180C>G (p.Leu394Val) c.1261C>G (p.Leu421Val) c.1243C>G (p.Leu415Val) c.1141C>G (p.Leu381Val) n.1332-374G>C c.1321C>G (p.Leu441Val) c.1423C>G (p.Leu475Val) c.1363C>G (p.Leu455Val) n.3607-374G>C n.4043-374G>C c.1246C>G (p.Leu416Val) c.1264C>G (p.Leu422Val) c.1021C>G (p.Leu341Val) c.1054C>G (p.Leu352Val) c.1072C>G (p.Leu358Val) | |
| 2 | g.127428638C>T | CA348405713 | PROC | c.1078C>T (p.Leu360Phe) c.402C>T c.1180C>T (p.Leu394Phe) c.1261C>T (p.Leu421Phe) c.1243C>T (p.Leu415Phe) c.1141C>T (p.Leu381Phe) n.1332-374G>A c.1321C>T (p.Leu441Phe) c.1423C>T (p.Leu475Phe) c.1363C>T (p.Leu455Phe) n.3607-374G>A n.4043-374G>A c.1246C>T (p.Leu416Phe) c.1264C>T (p.Leu422Phe) c.1021C>T (p.Leu341Phe) c.1054C>T (p.Leu352Phe) c.1072C>T (p.Leu358Phe) | |
| 2 | g.127428639T>A | CA348405714 | PROC | c.1079T>A (p.Leu360His) c.403T>A c.1181T>A (p.Leu394His) c.1262T>A (p.Leu421His) c.1244T>A (p.Leu415His) c.1142T>A (p.Leu381His) n.1332-375A>T c.1322T>A (p.Leu441His) c.1424T>A (p.Leu475His) c.1364T>A (p.Leu455His) n.3607-375A>T n.4043-375A>T c.1247T>A (p.Leu416His) c.1265T>A (p.Leu422His) c.1022T>A (p.Leu341His) c.1055T>A (p.Leu352His) c.1073T>A (p.Leu358His) | |
| 2 | g.127428639T>C | CA348405715 | PROC | c.1079T>C (p.Leu360Pro) c.403T>C c.1181T>C (p.Leu394Pro) c.1262T>C (p.Leu421Pro) c.1244T>C (p.Leu415Pro) c.1142T>C (p.Leu381Pro) n.1332-375A>G c.1322T>C (p.Leu441Pro) c.1424T>C (p.Leu475Pro) c.1364T>C (p.Leu455Pro) n.3607-375A>G n.4043-375A>G c.1247T>C (p.Leu416Pro) c.1265T>C (p.Leu422Pro) c.1022T>C (p.Leu341Pro) c.1055T>C (p.Leu352Pro) c.1073T>C (p.Leu358Pro) | |
| 2 | g.127428639T>G | CA348405716 | PROC | c.1079T>G (p.Leu360Arg) c.403T>G c.1181T>G (p.Leu394Arg) c.1262T>G (p.Leu421Arg) c.1244T>G (p.Leu415Arg) c.1142T>G (p.Leu381Arg) n.1332-375A>C c.1322T>G (p.Leu441Arg) c.1424T>G (p.Leu475Arg) c.1364T>G (p.Leu455Arg) n.3607-375A>C n.4043-375A>C c.1247T>G (p.Leu416Arg) c.1265T>G (p.Leu422Arg) c.1022T>G (p.Leu341Arg) c.1055T>G (p.Leu352Arg) c.1073T>G (p.Leu358Arg) | |
| 2 | g.127428642_127428647del | CA2586969916 | PROC | c.1082_1087del (p.Asn361_Phe362del) c.406_411del c.1184_1189del (p.Asn395_Phe396del) c.1265_1270del (p.Asn422_Phe423del) c.1247_1252del (p.Asn416_Phe417del) c.1145_1150del (p.Asn382_Phe383del) n.1332-380_1332-375del c.1325_1330del (p.Asn442_Phe443del) c.1427_1432del (p.Asn476_Phe477del) c.1367_1372del (p.Asn456_Phe457del) n.3607-380_3607-375del n.4043-380_4043-375del c.1250_1255del (p.Asn417_Phe418del) c.1268_1273del (p.Asn423_Phe424del) c.1025_1030del (p.Asn342_Phe343del) c.1058_1063del (p.Asn353_Phe354del) c.1076_1081del (p.Asn359_Phe360del) | |
| 2 | g.127428640C>A | CA428873022 | PROC | c.1080C>A (p.Leu360=) c.404C>A c.1182C>A (p.Leu394=) c.1263C>A (p.Leu421=) c.1245C>A (p.Leu415=) c.1143C>A (p.Leu381=) n.1332-376G>T c.1323C>A (p.Leu441=) c.1425C>A (p.Leu475=) c.1365C>A (p.Leu455=) n.3607-376G>T n.4043-376G>T c.1248C>A (p.Leu416=) c.1266C>A (p.Leu422=) c.1023C>A (p.Leu341=) c.1056C>A (p.Leu352=) c.1074C>A (p.Leu358=) | |
| 2 | g.127428640C>G | CA428873021 | PROC | c.1080C>G (p.Leu360=) c.404C>G c.1182C>G (p.Leu394=) c.1263C>G (p.Leu421=) c.1245C>G (p.Leu415=) c.1143C>G (p.Leu381=) n.1332-376G>C c.1323C>G (p.Leu441=) c.1425C>G (p.Leu475=) c.1365C>G (p.Leu455=) n.3607-376G>C n.4043-376G>C c.1248C>G (p.Leu416=) c.1266C>G (p.Leu422=) c.1023C>G (p.Leu341=) c.1056C>G (p.Leu352=) c.1074C>G (p.Leu358=) | ClinVar dbSNP |
| 2 | g.127428640C>T | CA428873020 | PROC | c.1080C>T (p.Leu360=) c.404C>T c.1182C>T (p.Leu394=) c.1263C>T (p.Leu421=) c.1245C>T (p.Leu415=) c.1143C>T (p.Leu381=) n.1332-376G>A c.1323C>T (p.Leu441=) c.1425C>T (p.Leu475=) c.1365C>T (p.Leu455=) n.3607-376G>A n.4043-376G>A c.1248C>T (p.Leu416=) c.1266C>T (p.Leu422=) c.1023C>T (p.Leu341=) c.1056C>T (p.Leu352=) c.1074C>T (p.Leu358=) | |
| 2 | g.127428641A>C | CA348405718 | PROC | c.1081A>C (p.Asn361His) c.405A>C c.1183A>C (p.Asn395His) c.1264A>C (p.Asn422His) c.1246A>C (p.Asn416His) c.1144A>C (p.Asn382His) n.1332-377T>G c.1324A>C (p.Asn442His) c.1426A>C (p.Asn476His) c.1366A>C (p.Asn456His) n.3607-377T>G n.4043-377T>G c.1249A>C (p.Asn417His) c.1267A>C (p.Asn423His) c.1024A>C (p.Asn342His) c.1057A>C (p.Asn353His) c.1075A>C (p.Asn359His) | |
| 2 | g.127428641A>G | CA348405719 | PROC | c.1081A>G (p.Asn361Asp) c.405A>G c.1183A>G (p.Asn395Asp) c.1264A>G (p.Asn422Asp) c.1246A>G (p.Asn416Asp) c.1144A>G (p.Asn382Asp) n.1332-377T>C c.1324A>G (p.Asn442Asp) c.1426A>G (p.Asn476Asp) c.1366A>G (p.Asn456Asp) n.3607-377T>C n.4043-377T>C c.1249A>G (p.Asn417Asp) c.1267A>G (p.Asn423Asp) c.1024A>G (p.Asn342Asp) c.1057A>G (p.Asn353Asp) c.1075A>G (p.Asn359Asp) | |
| 2 | g.127428641A>T | CA348405717 | PROC | c.1081A>T (p.Asn361Tyr) c.405A>T c.1183A>T (p.Asn395Tyr) c.1264A>T (p.Asn422Tyr) c.1246A>T (p.Asn416Tyr) c.1144A>T (p.Asn382Tyr) n.1332-377T>A c.1324A>T (p.Asn442Tyr) c.1426A>T (p.Asn476Tyr) c.1366A>T (p.Asn456Tyr) n.3607-377T>A n.4043-377T>A c.1249A>T (p.Asn417Tyr) c.1267A>T (p.Asn423Tyr) c.1024A>T (p.Asn342Tyr) c.1057A>T (p.Asn353Tyr) c.1075A>T (p.Asn359Tyr) | |
| 2 | g.127428642A>C | CA348405720 | PROC | c.1082A>C (p.Asn361Thr) c.406A>C c.1184A>C (p.Asn395Thr) c.1265A>C (p.Asn422Thr) c.1247A>C (p.Asn416Thr) c.1145A>C (p.Asn382Thr) n.1332-378T>G c.1325A>C (p.Asn442Thr) c.1427A>C (p.Asn476Thr) c.1367A>C (p.Asn456Thr) n.3607-378T>G n.4043-378T>G c.1250A>C (p.Asn417Thr) c.1268A>C (p.Asn423Thr) c.1025A>C (p.Asn342Thr) c.1058A>C (p.Asn353Thr) c.1076A>C (p.Asn359Thr) | |
| 2 | g.127428642A>G | CA348405722 | PROC | c.1082A>G (p.Asn361Ser) c.406A>G c.1184A>G (p.Asn395Ser) c.1265A>G (p.Asn422Ser) c.1247A>G (p.Asn416Ser) c.1145A>G (p.Asn382Ser) n.1332-378T>C c.1325A>G (p.Asn442Ser) c.1427A>G (p.Asn476Ser) c.1367A>G (p.Asn456Ser) n.3607-378T>C n.4043-378T>C c.1250A>G (p.Asn417Ser) c.1268A>G (p.Asn423Ser) c.1025A>G (p.Asn342Ser) c.1058A>G (p.Asn353Ser) c.1076A>G (p.Asn359Ser) | gnomAD v4 |
| 2 | g.127428642A>T | CA348405721 | PROC | c.1082A>T (p.Asn361Ile) c.406A>T c.1184A>T (p.Asn395Ile) c.1265A>T (p.Asn422Ile) c.1247A>T (p.Asn416Ile) c.1145A>T (p.Asn382Ile) n.1332-378T>A c.1325A>T (p.Asn442Ile) c.1427A>T (p.Asn476Ile) c.1367A>T (p.Asn456Ile) n.3607-378T>A n.4043-378T>A c.1250A>T (p.Asn417Ile) c.1268A>T (p.Asn423Ile) c.1025A>T (p.Asn342Ile) c.1058A>T (p.Asn353Ile) c.1076A>T (p.Asn359Ile) | |
| 2 | g.127428643C>A | CA348405723 | PROC | c.1083C>A (p.Asn361Lys) c.407C>A c.1185C>A (p.Asn395Lys) c.1266C>A (p.Asn422Lys) c.1248C>A (p.Asn416Lys) c.1146C>A (p.Asn382Lys) n.1332-379G>T c.1326C>A (p.Asn442Lys) c.1428C>A (p.Asn476Lys) c.1368C>A (p.Asn456Lys) n.3607-379G>T n.4043-379G>T c.1251C>A (p.Asn417Lys) c.1269C>A (p.Asn423Lys) c.1026C>A (p.Asn342Lys) c.1059C>A (p.Asn353Lys) c.1077C>A (p.Asn359Lys) | |
| 2 | g.127428643C>G | CA348405724 | PROC | c.1083C>G (p.Asn361Lys) c.407C>G c.1185C>G (p.Asn395Lys) c.1266C>G (p.Asn422Lys) c.1248C>G (p.Asn416Lys) c.1146C>G (p.Asn382Lys) n.1332-379G>C c.1326C>G (p.Asn442Lys) c.1428C>G (p.Asn476Lys) c.1368C>G (p.Asn456Lys) n.3607-379G>C n.4043-379G>C c.1251C>G (p.Asn417Lys) c.1269C>G (p.Asn423Lys) c.1026C>G (p.Asn342Lys) c.1059C>G (p.Asn353Lys) c.1077C>G (p.Asn359Lys) | |
| 2 | g.127428643C>T | CA428873025 | PROC | c.1083C>T (p.Asn361=) c.407C>T c.1185C>T (p.Asn395=) c.1266C>T (p.Asn422=) c.1248C>T (p.Asn416=) c.1146C>T (p.Asn382=) n.1332-379G>A c.1326C>T (p.Asn442=) c.1428C>T (p.Asn476=) c.1368C>T (p.Asn456=) n.3607-379G>A n.4043-379G>A c.1251C>T (p.Asn417=) c.1269C>T (p.Asn423=) c.1026C>T (p.Asn342=) c.1059C>T (p.Asn353=) c.1077C>T (p.Asn359=) | |
| 2 | g.127428644T>A | CA348405725 | PROC | c.1084T>A (p.Phe362Ile) c.408T>A c.1186T>A (p.Phe396Ile) c.1267T>A (p.Phe423Ile) c.1249T>A (p.Phe417Ile) c.1147T>A (p.Phe383Ile) n.1332-380A>T c.1327T>A (p.Phe443Ile) c.1429T>A (p.Phe477Ile) c.1369T>A (p.Phe457Ile) n.3607-380A>T n.4043-380A>T c.1252T>A (p.Phe418Ile) c.1270T>A (p.Phe424Ile) c.1027T>A (p.Phe343Ile) c.1060T>A (p.Phe354Ile) c.1078T>A (p.Phe360Ile) | ClinVar dbSNP gnomAD v4 |
| 2 | g.127428644T>C | CA348405726 | PROC | c.1084T>C (p.Phe362Leu) c.408T>C c.1186T>C (p.Phe396Leu) c.1267T>C (p.Phe423Leu) c.1249T>C (p.Phe417Leu) c.1147T>C (p.Phe383Leu) n.1332-380A>G c.1327T>C (p.Phe443Leu) c.1429T>C (p.Phe477Leu) c.1369T>C (p.Phe457Leu) n.3607-380A>G n.4043-380A>G c.1252T>C (p.Phe418Leu) c.1270T>C (p.Phe424Leu) c.1027T>C (p.Phe343Leu) c.1060T>C (p.Phe354Leu) c.1078T>C (p.Phe360Leu) | |
| 2 | g.127428644T>G | CA348405727 | PROC | c.1084T>G (p.Phe362Val) c.408T>G c.1186T>G (p.Phe396Val) c.1267T>G (p.Phe423Val) c.1249T>G (p.Phe417Val) c.1147T>G (p.Phe383Val) n.1332-380A>C c.1327T>G (p.Phe443Val) c.1429T>G (p.Phe477Val) c.1369T>G (p.Phe457Val) n.3607-380A>C n.4043-380A>C c.1252T>G (p.Phe418Val) c.1270T>G (p.Phe424Val) c.1027T>G (p.Phe343Val) c.1060T>G (p.Phe354Val) c.1078T>G (p.Phe360Val) | |
| 2 | g.127428645T>A | CA348405728 | PROC | c.1085T>A (p.Phe362Tyr) c.409T>A c.1187T>A (p.Phe396Tyr) c.1268T>A (p.Phe423Tyr) c.1250T>A (p.Phe417Tyr) c.1148T>A (p.Phe383Tyr) n.1332-381A>T c.1328T>A (p.Phe443Tyr) c.1430T>A (p.Phe477Tyr) c.1370T>A (p.Phe457Tyr) n.3607-381A>T n.4043-381A>T c.1253T>A (p.Phe418Tyr) c.1271T>A (p.Phe424Tyr) c.1028T>A (p.Phe343Tyr) c.1061T>A (p.Phe354Tyr) c.1079T>A (p.Phe360Tyr) | |
| 2 | g.127428645T>C | CA348405729 | PROC | c.1085T>C (p.Phe362Ser) c.409T>C c.1187T>C (p.Phe396Ser) c.1268T>C (p.Phe423Ser) c.1250T>C (p.Phe417Ser) c.1148T>C (p.Phe383Ser) n.1332-381A>G c.1328T>C (p.Phe443Ser) c.1430T>C (p.Phe477Ser) c.1370T>C (p.Phe457Ser) n.3607-381A>G n.4043-381A>G c.1253T>C (p.Phe418Ser) c.1271T>C (p.Phe424Ser) c.1028T>C (p.Phe343Ser) c.1061T>C (p.Phe354Ser) c.1079T>C (p.Phe360Ser) | |
| 2 | g.127428645T>G | CA348405730 | PROC | c.1085T>G (p.Phe362Cys) c.409T>G c.1187T>G (p.Phe396Cys) c.1268T>G (p.Phe423Cys) c.1250T>G (p.Phe417Cys) c.1148T>G (p.Phe383Cys) n.1332-381A>C c.1328T>G (p.Phe443Cys) c.1430T>G (p.Phe477Cys) c.1370T>G (p.Phe457Cys) n.3607-381A>C n.4043-381A>C c.1253T>G (p.Phe418Cys) c.1271T>G (p.Phe424Cys) c.1028T>G (p.Phe343Cys) c.1061T>G (p.Phe354Cys) c.1079T>G (p.Phe360Cys) |