| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 2 | g.127428731C>G | CA348406119 | PROC | c.1171C>G (p.Leu391Val) c.495C>G c.1273C>G (p.Leu425Val) c.1354C>G (p.Leu452Val) c.1336C>G (p.Leu446Val) c.1234C>G (p.Leu412Val) n.1332-467G>C c.1414C>G (p.Leu472Val) c.1516C>G (p.Leu506Val) c.1456C>G (p.Leu486Val) n.3607-467G>C n.4043-467G>C c.1339C>G (p.Leu447Val) c.1357C>G (p.Leu453Val) c.1114C>G (p.Leu372Val) c.1147C>G (p.Leu383Val) c.1165C>G (p.Leu389Val) | gnomAD v4 |
| 2 | g.127428731C>T | CA348406117 | PROC | c.1171C>T (p.Leu391Phe) c.495C>T c.1273C>T (p.Leu425Phe) c.1354C>T (p.Leu452Phe) c.1336C>T (p.Leu446Phe) c.1234C>T (p.Leu412Phe) n.1332-467G>A c.1414C>T (p.Leu472Phe) c.1516C>T (p.Leu506Phe) c.1456C>T (p.Leu486Phe) n.3607-467G>A n.4043-467G>A c.1339C>T (p.Leu447Phe) c.1357C>T (p.Leu453Phe) c.1114C>T (p.Leu372Phe) c.1147C>T (p.Leu383Phe) c.1165C>T (p.Leu389Phe) | |
| 2 | g.127428732T>A | CA348406121 | PROC | c.1172T>A (p.Leu391His) c.496T>A c.1274T>A (p.Leu425His) c.1355T>A (p.Leu452His) c.1337T>A (p.Leu446His) c.1235T>A (p.Leu412His) n.1332-468A>T c.1415T>A (p.Leu472His) c.1517T>A (p.Leu506His) c.1457T>A (p.Leu486His) n.3607-468A>T n.4043-468A>T c.1340T>A (p.Leu447His) c.1358T>A (p.Leu453His) c.1115T>A (p.Leu372His) c.1148T>A (p.Leu383His) c.1166T>A (p.Leu389His) | |
| 2 | g.127428732T>C | CA348406122 | PROC | c.1172T>C (p.Leu391Pro) c.496T>C c.1274T>C (p.Leu425Pro) c.1355T>C (p.Leu452Pro) c.1337T>C (p.Leu446Pro) c.1235T>C (p.Leu412Pro) n.1332-468A>G c.1415T>C (p.Leu472Pro) c.1517T>C (p.Leu506Pro) c.1457T>C (p.Leu486Pro) n.3607-468A>G n.4043-468A>G c.1340T>C (p.Leu447Pro) c.1358T>C (p.Leu453Pro) c.1115T>C (p.Leu372Pro) c.1148T>C (p.Leu383Pro) c.1166T>C (p.Leu389Pro) | |
| 2 | g.127428732T>G | CA348406123 | PROC | c.1172T>G (p.Leu391Arg) c.496T>G c.1274T>G (p.Leu425Arg) c.1355T>G (p.Leu452Arg) c.1337T>G (p.Leu446Arg) c.1235T>G (p.Leu412Arg) n.1332-468A>C c.1415T>G (p.Leu472Arg) c.1517T>G (p.Leu506Arg) c.1457T>G (p.Leu486Arg) n.3607-468A>C n.4043-468A>C c.1340T>G (p.Leu447Arg) c.1358T>G (p.Leu453Arg) c.1115T>G (p.Leu372Arg) c.1148T>G (p.Leu383Arg) c.1166T>G (p.Leu389Arg) | |
| 2 | g.127428733C>A | CA428873461 | PROC | c.1173C>A (p.Leu391=) c.497C>A c.1275C>A (p.Leu425=) c.1356C>A (p.Leu452=) c.1338C>A (p.Leu446=) c.1236C>A (p.Leu412=) n.1332-469G>T c.1416C>A (p.Leu472=) c.1518C>A (p.Leu506=) c.1458C>A (p.Leu486=) n.3607-469G>T n.4043-469G>T c.1341C>A (p.Leu447=) c.1359C>A (p.Leu453=) c.1116C>A (p.Leu372=) c.1149C>A (p.Leu383=) c.1167C>A (p.Leu389=) | |
| 2 | g.127428733C= | CA1286884612 | PROC | c.1173C= (p.Leu391=) c.497C= c.1275C= (p.Leu425=) c.1356C= (p.Leu452=) c.1338C= (p.Leu446=) c.1236C= (p.Leu412=) n.1332-469G= c.1416C= (p.Leu472=) c.1518C= (p.Leu506=) c.1458C= (p.Leu486=) n.3607-469G= n.4043-469G= c.1341C= (p.Leu447=) c.1359C= (p.Leu453=) c.1116C= (p.Leu372=) c.1149C= (p.Leu383=) c.1167C= (p.Leu389=) | |
| 2 | g.127428733C>G | CA428873464 | PROC | c.1173C>G (p.Leu391=) c.497C>G c.1275C>G (p.Leu425=) c.1356C>G (p.Leu452=) c.1338C>G (p.Leu446=) c.1236C>G (p.Leu412=) n.1332-469G>C c.1416C>G (p.Leu472=) c.1518C>G (p.Leu506=) c.1458C>G (p.Leu486=) n.3607-469G>C n.4043-469G>C c.1341C>G (p.Leu447=) c.1359C>G (p.Leu453=) c.1116C>G (p.Leu372=) c.1149C>G (p.Leu383=) c.1167C>G (p.Leu389=) | |
| 2 | g.127428733C>T | CA428873468 | PROC | c.1173C>T (p.Leu391=) c.497C>T c.1275C>T (p.Leu425=) c.1356C>T (p.Leu452=) c.1338C>T (p.Leu446=) c.1236C>T (p.Leu412=) n.1332-469G>A c.1416C>T (p.Leu472=) c.1518C>T (p.Leu506=) c.1458C>T (p.Leu486=) n.3607-469G>A n.4043-469G>A c.1341C>T (p.Leu447=) c.1359C>T (p.Leu453=) c.1116C>T (p.Leu372=) c.1149C>T (p.Leu383=) c.1167C>T (p.Leu389=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.127428734G>A | CA1859537 | PROC | c.1174G>A (p.Gly392Arg) c.498G>A c.1276G>A (p.Gly426Arg) c.1357G>A (p.Gly453Arg) c.1339G>A (p.Gly447Arg) c.1237G>A (p.Gly413Arg) n.1332-470C>T c.1417G>A (p.Gly473Arg) c.1519G>A (p.Gly507Arg) c.1459G>A (p.Gly487Arg) n.3607-470C>T n.4043-470C>T c.1342G>A (p.Gly448Arg) c.1360G>A (p.Gly454Arg) c.1117G>A (p.Gly373Arg) c.1150G>A (p.Gly384Arg) c.1168G>A (p.Gly390Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428734G>C | CA1859536 | PROC | c.1174G>C (p.Gly392Arg) c.498G>C c.1276G>C (p.Gly426Arg) c.1357G>C (p.Gly453Arg) c.1339G>C (p.Gly447Arg) c.1237G>C (p.Gly413Arg) n.1332-470C>G c.1417G>C (p.Gly473Arg) c.1519G>C (p.Gly507Arg) c.1459G>C (p.Gly487Arg) n.3607-470C>G n.4043-470C>G c.1342G>C (p.Gly448Arg) c.1360G>C (p.Gly454Arg) c.1117G>C (p.Gly373Arg) c.1150G>C (p.Gly384Arg) c.1168G>C (p.Gly390Arg) | dbSNP ExAC gnomAD v2 |
| 2 | g.127428734G= | CA1286884613 | PROC | c.1174G= (p.Gly392=) c.498G= c.1276G= (p.Gly426=) c.1357G= (p.Gly453=) c.1339G= (p.Gly447=) c.1237G= (p.Gly413=) n.1332-470C= c.1417G= (p.Gly473=) c.1519G= (p.Gly507=) c.1459G= (p.Gly487=) n.3607-470C= n.4043-470C= c.1342G= (p.Gly448=) c.1360G= (p.Gly454=) c.1117G= (p.Gly373=) c.1150G= (p.Gly384=) c.1168G= (p.Gly390=) | |
| 2 | g.127428734G>T | CA348406126 | PROC | c.1174G>T (p.Gly392Trp) c.498G>T c.1276G>T (p.Gly426Trp) c.1357G>T (p.Gly453Trp) c.1339G>T (p.Gly447Trp) c.1237G>T (p.Gly413Trp) n.1332-470C>A c.1417G>T (p.Gly473Trp) c.1519G>T (p.Gly507Trp) c.1459G>T (p.Gly487Trp) n.3607-470C>A n.4043-470C>A c.1342G>T (p.Gly448Trp) c.1360G>T (p.Gly454Trp) c.1117G>T (p.Gly373Trp) c.1150G>T (p.Gly384Trp) c.1168G>T (p.Gly390Trp) | |
| 2 | g.127428735G>A | CA348406128 | PROC | c.1175G>A (p.Gly392Glu) c.499G>A c.1277G>A (p.Gly426Glu) c.1358G>A (p.Gly453Glu) c.1340G>A (p.Gly447Glu) c.1238G>A (p.Gly413Glu) n.1332-471C>T c.1418G>A (p.Gly473Glu) c.1520G>A (p.Gly507Glu) c.1460G>A (p.Gly487Glu) n.3607-471C>T n.4043-471C>T c.1343G>A (p.Gly448Glu) c.1361G>A (p.Gly454Glu) c.1118G>A (p.Gly373Glu) c.1151G>A (p.Gly384Glu) c.1169G>A (p.Gly390Glu) | COSMIC COSMIC |