Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127428722G>ACA348406080PROCc.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
2g.127428722G>CCA348406084PROCc.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)
2g.127428722G>TCA348406086PROCc.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
2g.127428723C>ACA348406087PROCc.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)
2g.127428723C=CA1286884605PROCc.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=)
2g.127428723C>GCA1859534PROCc.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
2g.127428723C>TCA55351245PROCc.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
2g.127428724G>ACA1859535PROCc.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
2g.127428724G>CCA428873411PROCc.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
2g.127428724G=CA1286884606PROCc.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=)
2g.127428724G>TCA428873413PROCc.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=)
2g.127428725G>ACA348406092PROCc.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)
2g.127428725G>CCA348406094PROCc.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)
2g.127428725G>TCA348406095PROCc.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)
2g.127428725_127428728delinsGGCACA1286884607PROCc.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=)
2g.127428726G>ACA348406096PROCc.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)
2g.127428726G>CCA348406097PROCc.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
2g.127428726G=CA1286884608PROCc.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=)
2g.127428726G>TCA348406098PROCc.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)
2g.127428726_127428728delCA536067747PROCc.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
2g.127428727C>ACA428873425PROCc.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=)
2g.127428727C>GCA428873426PROCc.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=)
2g.127428727C>TCA428873428PROCc.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=)
2g.127428728A>CCA348406104PROCc.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)
2g.127428728A>GCA348406105PROCc.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)
2g.127428728A>TCA348406110PROCc.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)
2g.127428729T>ACA55351258PROCc.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
2g.127428729T>CCA348406113PROCc.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)
2g.127428729T>GCA348406114PROCc.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)
2g.127428729T=CA1286884609PROCc.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=)
2g.127428730C>ACA428873443PROCc.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
2g.127428730C=CA1286884610PROCc.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=)
2g.127428730C>GCA348406115PROCc.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)
2g.127428730C>TCA428873448PROCc.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=)
2g.127428731C>ACA348406116PROCc.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
2g.127428731C=CA1286884611PROCc.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=)
2g.127428731C>GCA348406119PROCc.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
2g.127428731C>TCA348406117PROCc.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)
2g.127428732T>ACA348406121PROCc.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)
2g.127428732T>CCA348406122PROCc.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)
2g.127428732T>GCA348406123PROCc.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)
2g.127428733C>ACA428873461PROCc.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=)
2g.127428733C=CA1286884612PROCc.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=)
2g.127428733C>GCA428873464PROCc.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=)
2g.127428733C>TCA428873468PROCc.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
2g.127428734G>ACA1859537PROCc.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
2g.127428734G>CCA1859536PROCc.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
2g.127428734G=CA1286884613PROCc.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=)
2g.127428734G>TCA348406126PROCc.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)
2g.127428735G>ACA348406128PROCc.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
2g.127428735G>CCA348406130PROCc.1175G>C (p.Gly392Ala)
c.499G>C
c.1277G>C (p.Gly426Ala)
c.1358G>C (p.Gly453Ala)
c.1340G>C (p.Gly447Ala)
c.1238G>C (p.Gly413Ala)
n.1332-471C>G
c.1418G>C (p.Gly473Ala)
c.1520G>C (p.Gly507Ala)
c.1460G>C (p.Gly487Ala)
n.3607-471C>G
n.4043-471C>G
c.1343G>C (p.Gly448Ala)
c.1361G>C (p.Gly454Ala)
c.1118G>C (p.Gly373Ala)
c.1151G>C (p.Gly384Ala)
c.1169G>C (p.Gly390Ala)
2g.127428735G=CA1286884614PROCc.1175G= (p.Gly392=)
c.499G=
c.1277G= (p.Gly426=)
c.1358G= (p.Gly453=)
c.1340G= (p.Gly447=)
c.1238G= (p.Gly413=)
n.1332-471C=
c.1418G= (p.Gly473=)
c.1520G= (p.Gly507=)
c.1460G= (p.Gly487=)
n.3607-471C=
n.4043-471C=
c.1343G= (p.Gly448=)
c.1361G= (p.Gly454=)
c.1118G= (p.Gly373=)
c.1151G= (p.Gly384=)
c.1169G= (p.Gly390=)
2g.127428735G>TCA55351295PROCc.1175G>T (p.Gly392Val)
c.499G>T
c.1277G>T (p.Gly426Val)
c.1358G>T (p.Gly453Val)
c.1340G>T (p.Gly447Val)
c.1238G>T (p.Gly413Val)
n.1332-471C>A
c.1418G>T (p.Gly473Val)
c.1520G>T (p.Gly507Val)
c.1460G>T (p.Gly487Val)
n.3607-471C>A
n.4043-471C>A
c.1343G>T (p.Gly448Val)
c.1361G>T (p.Gly454Val)
c.1118G>T (p.Gly373Val)
c.1151G>T (p.Gly384Val)
c.1169G>T (p.Gly390Val)
 dbSNP
2g.127428736G>ACA428873476PROCc.1176G>A (p.Gly392=)
c.500G>A
c.1278G>A (p.Gly426=)
c.1359G>A (p.Gly453=)
c.1341G>A (p.Gly447=)
c.1239G>A (p.Gly413=)
n.1332-472C>T
c.1419G>A (p.Gly473=)
c.1521G>A (p.Gly507=)
c.1461G>A (p.Gly487=)
n.3607-472C>T
n.4043-472C>T
c.1344G>A (p.Gly448=)
c.1362G>A (p.Gly454=)
c.1119G>A (p.Gly373=)
c.1152G>A (p.Gly384=)
c.1170G>A (p.Gly390=)
 dbSNP gnomAD v4
2g.127428736G>CCA428873479PROCc.1176G>C (p.Gly392=)
c.500G>C
c.1278G>C (p.Gly426=)
c.1359G>C (p.Gly453=)
c.1341G>C (p.Gly447=)
c.1239G>C (p.Gly413=)
n.1332-472C>G
c.1419G>C (p.Gly473=)
c.1521G>C (p.Gly507=)
c.1461G>C (p.Gly487=)
n.3607-472C>G
n.4043-472C>G
c.1344G>C (p.Gly448=)
c.1362G>C (p.Gly454=)
c.1119G>C (p.Gly373=)
c.1152G>C (p.Gly384=)
c.1170G>C (p.Gly390=)
2g.127428736G=CA1286884615PROCc.1176G= (p.Gly392=)
c.500G=
c.1278G= (p.Gly426=)
c.1359G= (p.Gly453=)
c.1341G= (p.Gly447=)
c.1239G= (p.Gly413=)
n.1332-472C=
c.1419G= (p.Gly473=)
c.1521G= (p.Gly507=)
c.1461G= (p.Gly487=)
n.3607-472C=
n.4043-472C=
c.1344G= (p.Gly448=)
c.1362G= (p.Gly454=)
c.1119G= (p.Gly373=)
c.1152G= (p.Gly384=)
c.1170G= (p.Gly390=)
2g.127428736G>TCA428873486PROCc.1176G>T (p.Gly392=)
c.500G>T
c.1278G>T (p.Gly426=)
c.1359G>T (p.Gly453=)
c.1341G>T (p.Gly447=)
c.1239G>T (p.Gly413=)
n.1332-472C>A
c.1419G>T (p.Gly473=)
c.1521G>T (p.Gly507=)
c.1461G>T (p.Gly487=)
n.3607-472C>A
n.4043-472C>A
c.1344G>T (p.Gly448=)
c.1362G>T (p.Gly454=)
c.1119G>T (p.Gly373=)
c.1152G>T (p.Gly384=)
c.1170G>T (p.Gly390=)
2g.127428737G>ACA55351296PROCc.1177G>A (p.Asp393Asn)
c.501G>A
c.1279G>A (p.Asp427Asn)
c.1360G>A (p.Asp454Asn)
c.1342G>A (p.Asp448Asn)
c.1240G>A (p.Asp414Asn)
n.1332-473C>T
c.1420G>A (p.Asp474Asn)
c.1522G>A (p.Asp508Asn)
c.1462G>A (p.Asp488Asn)
n.3607-473C>T
n.4043-473C>T
c.1345G>A (p.Asp449Asn)
c.1363G>A (p.Asp455Asn)
c.1120G>A (p.Asp374Asn)
c.1153G>A (p.Asp385Asn)
c.1171G>A (p.Asp391Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428737G>CCA348406133PROCc.1177G>C (p.Asp393His)
c.501G>C
c.1279G>C (p.Asp427His)
c.1360G>C (p.Asp454His)
c.1342G>C (p.Asp448His)
c.1240G>C (p.Asp414His)
n.1332-473C>G
c.1420G>C (p.Asp474His)
c.1522G>C (p.Asp508His)
c.1462G>C (p.Asp488His)
n.3607-473C>G
n.4043-473C>G
c.1345G>C (p.Asp449His)
c.1363G>C (p.Asp455His)
c.1120G>C (p.Asp374His)
c.1153G>C (p.Asp385His)
c.1171G>C (p.Asp391His)
2g.127428737G=CA1286884616PROCc.1177G= (p.Asp393=)
c.501G=
c.1279G= (p.Asp427=)
c.1360G= (p.Asp454=)
c.1342G= (p.Asp448=)
c.1240G= (p.Asp414=)
n.1332-473C=
c.1420G= (p.Asp474=)
c.1522G= (p.Asp508=)
c.1462G= (p.Asp488=)
n.3607-473C=
n.4043-473C=
c.1345G= (p.Asp449=)
c.1363G= (p.Asp455=)
c.1120G= (p.Asp374=)
c.1153G= (p.Asp385=)
c.1171G= (p.Asp391=)
2g.127428737G>TCA348406134PROCc.1177G>T (p.Asp393Tyr)
c.501G>T
c.1279G>T (p.Asp427Tyr)
c.1360G>T (p.Asp454Tyr)
c.1342G>T (p.Asp448Tyr)
c.1240G>T (p.Asp414Tyr)
n.1332-473C>A
c.1420G>T (p.Asp474Tyr)
c.1522G>T (p.Asp508Tyr)
c.1462G>T (p.Asp488Tyr)
n.3607-473C>A
n.4043-473C>A
c.1345G>T (p.Asp449Tyr)
c.1363G>T (p.Asp455Tyr)
c.1120G>T (p.Asp374Tyr)
c.1153G>T (p.Asp385Tyr)
c.1171G>T (p.Asp391Tyr)
2g.127428738A>CCA348406139PROCc.1178A>C (p.Asp393Ala)
c.502A>C
c.1280A>C (p.Asp427Ala)
c.1361A>C (p.Asp454Ala)
c.1343A>C (p.Asp448Ala)
c.1241A>C (p.Asp414Ala)
n.1332-474T>G
c.1421A>C (p.Asp474Ala)
c.1523A>C (p.Asp508Ala)
c.1463A>C (p.Asp488Ala)
n.3607-474T>G
n.4043-474T>G
c.1346A>C (p.Asp449Ala)
c.1364A>C (p.Asp455Ala)
c.1121A>C (p.Asp374Ala)
c.1154A>C (p.Asp385Ala)
c.1172A>C (p.Asp391Ala)
2g.127428738A>GCA348406136PROCc.1178A>G (p.Asp393Gly)
c.502A>G
c.1280A>G (p.Asp427Gly)
c.1361A>G (p.Asp454Gly)
c.1343A>G (p.Asp448Gly)
c.1241A>G (p.Asp414Gly)
n.1332-474T>C
c.1421A>G (p.Asp474Gly)
c.1523A>G (p.Asp508Gly)
c.1463A>G (p.Asp488Gly)
n.3607-474T>C
n.4043-474T>C
c.1346A>G (p.Asp449Gly)
c.1364A>G (p.Asp455Gly)
c.1121A>G (p.Asp374Gly)
c.1154A>G (p.Asp385Gly)
c.1172A>G (p.Asp391Gly)
2g.127428738A>TCA348406137PROCc.1178A>T (p.Asp393Val)
c.502A>T
c.1280A>T (p.Asp427Val)
c.1361A>T (p.Asp454Val)
c.1343A>T (p.Asp448Val)
c.1241A>T (p.Asp414Val)
n.1332-474T>A
c.1421A>T (p.Asp474Val)
c.1523A>T (p.Asp508Val)
c.1463A>T (p.Asp488Val)
n.3607-474T>A
n.4043-474T>A
c.1346A>T (p.Asp449Val)
c.1364A>T (p.Asp455Val)
c.1121A>T (p.Asp374Val)
c.1154A>T (p.Asp385Val)
c.1172A>T (p.Asp391Val)
2g.127428739C>ACA348406141PROCc.1179C>A (p.Asp393Glu)
c.503C>A
c.1281C>A (p.Asp427Glu)
c.1362C>A (p.Asp454Glu)
c.1344C>A (p.Asp448Glu)
c.1242C>A (p.Asp414Glu)
n.1332-475G>T
c.1422C>A (p.Asp474Glu)
c.1524C>A (p.Asp508Glu)
c.1464C>A (p.Asp488Glu)
n.3607-475G>T
n.4043-475G>T
c.1347C>A (p.Asp449Glu)
c.1365C>A (p.Asp455Glu)
c.1122C>A (p.Asp374Glu)
c.1155C>A (p.Asp385Glu)
c.1173C>A (p.Asp391Glu)
2g.127428739C=CA1286884617PROCc.1179C= (p.Asp393=)
c.503C=
c.1281C= (p.Asp427=)
c.1362C= (p.Asp454=)
c.1344C= (p.Asp448=)
c.1242C= (p.Asp414=)
n.1332-475G=
c.1422C= (p.Asp474=)
c.1524C= (p.Asp508=)
c.1464C= (p.Asp488=)
n.3607-475G=
n.4043-475G=
c.1347C= (p.Asp449=)
c.1365C= (p.Asp455=)
c.1122C= (p.Asp374=)
c.1155C= (p.Asp385=)
c.1173C= (p.Asp391=)
2g.127428739C>GCA348406143PROCc.1179C>G (p.Asp393Glu)
c.503C>G
c.1281C>G (p.Asp427Glu)
c.1362C>G (p.Asp454Glu)
c.1344C>G (p.Asp448Glu)
c.1242C>G (p.Asp414Glu)
n.1332-475G>C
c.1422C>G (p.Asp474Glu)
c.1524C>G (p.Asp508Glu)
c.1464C>G (p.Asp488Glu)
n.3607-475G>C
n.4043-475G>C
c.1347C>G (p.Asp449Glu)
c.1365C>G (p.Asp455Glu)
c.1122C>G (p.Asp374Glu)
c.1155C>G (p.Asp385Glu)
c.1173C>G (p.Asp391Glu)
2g.127428739C>TCA1859538PROCc.1179C>T (p.Asp393=)
c.503C>T
c.1281C>T (p.Asp427=)
c.1362C>T (p.Asp454=)
c.1344C>T (p.Asp448=)
c.1242C>T (p.Asp414=)
n.1332-475G>A
c.1422C>T (p.Asp474=)
c.1524C>T (p.Asp508=)
c.1464C>T (p.Asp488=)
n.3607-475G>A
n.4043-475G>A
c.1347C>T (p.Asp449=)
c.1365C>T (p.Asp455=)
c.1122C>T (p.Asp374=)
c.1155C>T (p.Asp385=)
c.1173C>T (p.Asp391=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428739_127428740insACA1286884618PROCc.1179_1180insA (p.Arg394ThrfsTer?)
c.503_504insA
c.1281_1282insA (p.Arg428ThrfsTer?)
c.1362_1363insA (p.Arg455ThrfsTer?)
c.1344_1345insA (p.Arg449ThrfsTer?)
c.1242_1243insA (p.Arg415ThrfsTer?)
n.1332-476_1332-475insT
c.1422_1423insA (p.Arg475ThrfsTer?)
c.1524_1525insA (p.Arg509ThrfsTer?)
c.1464_1465insA (p.Arg489ThrfsTer?)
n.3607-476_3607-475insT
n.4043-476_4043-475insT
c.1347_1348insA (p.Arg450ThrfsTer?)
c.1365_1366insA (p.Arg456ThrfsTer?)
c.1122_1123insA (p.Arg375ThrfsTer?)
c.1155_1156insA (p.Arg386ThrfsTer?)
c.1173_1174insA (p.Arg392ThrfsTer?)
 dbSNP
2g.127428740C>ACA428872174PROCc.1180C>A (p.Arg394=)
c.504C>A
c.1282C>A (p.Arg428=)
c.1363C>A (p.Arg455=)
c.1345C>A (p.Arg449=)
c.1243C>A (p.Arg415=)
n.1332-476G>T
c.1423C>A (p.Arg475=)
c.1525C>A (p.Arg509=)
c.1465C>A (p.Arg489=)
n.3607-476G>T
n.4043-476G>T
c.1348C>A (p.Arg450=)
c.1366C>A (p.Arg456=)
c.1123C>A (p.Arg375=)
c.1156C>A (p.Arg386=)
c.1174C>A (p.Arg392=)
2g.127428740C=CA1286884619PROCc.1180C= (p.Arg394=)
c.504C=
c.1282C= (p.Arg428=)
c.1363C= (p.Arg455=)
c.1345C= (p.Arg449=)
c.1243C= (p.Arg415=)
n.1332-476G=
c.1423C= (p.Arg475=)
c.1525C= (p.Arg509=)
c.1465C= (p.Arg489=)
n.3607-476G=
n.4043-476G=
c.1348C= (p.Arg450=)
c.1366C= (p.Arg456=)
c.1123C= (p.Arg375=)
c.1156C= (p.Arg386=)
c.1174C= (p.Arg392=)
2g.127428740C>GCA348406145PROCc.1180C>G (p.Arg394Gly)
c.504C>G
c.1282C>G (p.Arg428Gly)
c.1363C>G (p.Arg455Gly)
c.1345C>G (p.Arg449Gly)
c.1243C>G (p.Arg415Gly)
n.1332-476G>C
c.1423C>G (p.Arg475Gly)
c.1525C>G (p.Arg509Gly)
c.1465C>G (p.Arg489Gly)
n.3607-476G>C
n.4043-476G>C
c.1348C>G (p.Arg450Gly)
c.1366C>G (p.Arg456Gly)
c.1123C>G (p.Arg375Gly)
c.1156C>G (p.Arg386Gly)
c.1174C>G (p.Arg392Gly)
2g.127428740C>TCA1859539PROCc.1180C>T (p.Arg394Trp)
c.504C>T
c.1282C>T (p.Arg428Trp)
c.1363C>T (p.Arg455Trp)
c.1345C>T (p.Arg449Trp)
c.1243C>T (p.Arg415Trp)
n.1332-476G>A
c.1423C>T (p.Arg475Trp)
c.1525C>T (p.Arg509Trp)
c.1465C>T (p.Arg489Trp)
n.3607-476G>A
n.4043-476G>A
c.1348C>T (p.Arg450Trp)
c.1366C>T (p.Arg456Trp)
c.1123C>T (p.Arg375Trp)
c.1156C>T (p.Arg386Trp)
c.1174C>T (p.Arg392Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428741G>ACA1859540PROCc.1181G>A (p.Arg394Gln)
c.505G>A
c.1283G>A (p.Arg428Gln)
c.1364G>A (p.Arg455Gln)
c.1346G>A (p.Arg449Gln)
c.1244G>A (p.Arg415Gln)
n.1332-477C>T
c.1424G>A (p.Arg475Gln)
c.1526G>A (p.Arg509Gln)
c.1466G>A (p.Arg489Gln)
n.3607-477C>T
n.4043-477C>T
c.1349G>A (p.Arg450Gln)
c.1367G>A (p.Arg456Gln)
c.1124G>A (p.Arg375Gln)
c.1157G>A (p.Arg386Gln)
c.1175G>A (p.Arg392Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428741G>CCA348406150PROCc.1181G>C (p.Arg394Pro)
c.505G>C
c.1283G>C (p.Arg428Pro)
c.1364G>C (p.Arg455Pro)
c.1346G>C (p.Arg449Pro)
c.1244G>C (p.Arg415Pro)
n.1332-477C>G
c.1424G>C (p.Arg475Pro)
c.1526G>C (p.Arg509Pro)
c.1466G>C (p.Arg489Pro)
n.3607-477C>G
n.4043-477C>G
c.1349G>C (p.Arg450Pro)
c.1367G>C (p.Arg456Pro)
c.1124G>C (p.Arg375Pro)
c.1157G>C (p.Arg386Pro)
c.1175G>C (p.Arg392Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.127428741G=CA1286884621PROCc.1181G= (p.Arg394=)
c.505G=
c.1283G= (p.Arg428=)
c.1364G= (p.Arg455=)
c.1346G= (p.Arg449=)
c.1244G= (p.Arg415=)
n.1332-477C=
c.1424G= (p.Arg475=)
c.1526G= (p.Arg509=)
c.1466G= (p.Arg489=)
n.3607-477C=
n.4043-477C=
c.1349G= (p.Arg450=)
c.1367G= (p.Arg456=)
c.1124G= (p.Arg375=)
c.1157G= (p.Arg386=)
c.1175G= (p.Arg392=)
2g.127428741G>TCA348406152PROCc.1181G>T (p.Arg394Leu)
c.505G>T
c.1283G>T (p.Arg428Leu)
c.1364G>T (p.Arg455Leu)
c.1346G>T (p.Arg449Leu)
c.1244G>T (p.Arg415Leu)
n.1332-477C>A
c.1424G>T (p.Arg475Leu)
c.1526G>T (p.Arg509Leu)
c.1466G>T (p.Arg489Leu)
n.3607-477C>A
n.4043-477C>A
c.1349G>T (p.Arg450Leu)
c.1367G>T (p.Arg456Leu)
c.1124G>T (p.Arg375Leu)
c.1157G>T (p.Arg386Leu)
c.1175G>T (p.Arg392Leu)
 dbSNP gnomAD v4
2g.127428741_127428743delinsGGCCA1286884620PROCc.1181_1183delinsGGC (p.Arg394=)
c.505_507delinsGGC
c.1283_1285delinsGGC (p.Arg428=)
c.1364_1366delinsGGC (p.Arg455=)
c.1346_1348delinsGGC (p.Arg449=)
c.1244_1246delinsGGC (p.Arg415=)
n.1332-479_1332-477delinsGCC
c.1424_1426delinsGGC (p.Arg475=)
c.1526_1528delinsGGC (p.Arg509=)
c.1466_1468delinsGGC (p.Arg489=)
n.3607-479_3607-477delinsGCC
n.4043-479_4043-477delinsGCC
c.1349_1351delinsGGC (p.Arg450=)
c.1367_1369delinsGGC (p.Arg456=)
c.1124_1126delinsGGC (p.Arg375=)
c.1157_1159delinsGGC (p.Arg386=)
c.1175_1177delinsGGC (p.Arg392=)
2g.127428742G>ACA428872182PROCc.1182G>A (p.Arg394=)
c.506G>A
c.1284G>A (p.Arg428=)
c.1365G>A (p.Arg455=)
c.1347G>A (p.Arg449=)
c.1245G>A (p.Arg415=)
n.1332-478C>T
c.1425G>A (p.Arg475=)
c.1527G>A (p.Arg509=)
c.1467G>A (p.Arg489=)
n.3607-478C>T
n.4043-478C>T
c.1350G>A (p.Arg450=)
c.1368G>A (p.Arg456=)
c.1125G>A (p.Arg375=)
c.1158G>A (p.Arg386=)
c.1176G>A (p.Arg392=)
 gnomAD v4
2g.127428742G>CCA428872184PROCc.1182G>C (p.Arg394=)
c.506G>C
c.1284G>C (p.Arg428=)
c.1365G>C (p.Arg455=)
c.1347G>C (p.Arg449=)
c.1245G>C (p.Arg415=)
n.1332-478C>G
c.1425G>C (p.Arg475=)
c.1527G>C (p.Arg509=)
c.1467G>C (p.Arg489=)
n.3607-478C>G
n.4043-478C>G
c.1350G>C (p.Arg450=)
c.1368G>C (p.Arg456=)
c.1125G>C (p.Arg375=)
c.1158G>C (p.Arg386=)
c.1176G>C (p.Arg392=)
2g.127428742G>TCA428872186PROCc.1182G>T (p.Arg394=)
c.506G>T
c.1284G>T (p.Arg428=)
c.1365G>T (p.Arg455=)
c.1347G>T (p.Arg449=)
c.1245G>T (p.Arg415=)
n.1332-478C>A
c.1425G>T (p.Arg475=)
c.1527G>T (p.Arg509=)
c.1467G>T (p.Arg489=)
n.3607-478C>A
n.4043-478C>A
c.1350G>T (p.Arg450=)
c.1368G>T (p.Arg456=)
c.1125G>T (p.Arg375=)
c.1158G>T (p.Arg386=)
c.1176G>T (p.Arg392=)
2g.127428742_127428743delCA1286884622PROCc.1182_1183del (p.Gln395GlyfsTer29)
c.506_507del
c.1284_1285del (p.Gln429GlyfsTer29)
c.1365_1366del (p.Gln456GlyfsTer29)
c.1347_1348del (p.Gln450GlyfsTer29)
c.1245_1246del (p.Gln416GlyfsTer29)
n.1332-479_1332-478del
c.1425_1426del (p.Gln476GlyfsTer29)
c.1527_1528del (p.Gln510GlyfsTer29)
c.1467_1468del (p.Gln490GlyfsTer29)
n.3607-479_3607-478del
n.4043-479_4043-478del
c.1350_1351del (p.Gln451GlyfsTer29)
c.1368_1369del (p.Gln457GlyfsTer29)
c.1125_1126del (p.Gln376GlyfsTer29)
c.1158_1159del (p.Gln387GlyfsTer29)
c.1176_1177del (p.Gln393GlyfsTer29)
 dbSNP
2g.127428743C>ACA348406154PROCc.1183C>A (p.Gln395Lys)
c.507C>A
c.1285C>A (p.Gln429Lys)
c.1366C>A (p.Gln456Lys)
c.1348C>A (p.Gln450Lys)
c.1246C>A (p.Gln416Lys)
n.1332-479G>T
c.1426C>A (p.Gln476Lys)
c.1528C>A (p.Gln510Lys)
c.1468C>A (p.Gln490Lys)
n.3607-479G>T
n.4043-479G>T
c.1351C>A (p.Gln451Lys)
c.1369C>A (p.Gln457Lys)
c.1126C>A (p.Gln376Lys)
c.1159C>A (p.Gln387Lys)
c.1177C>A (p.Gln393Lys)
2g.127428743C=CA1286884623PROCc.1183C= (p.Gln395=)
c.507C=
c.1285C= (p.Gln429=)
c.1366C= (p.Gln456=)
c.1348C= (p.Gln450=)
c.1246C= (p.Gln416=)
n.1332-479G=
c.1426C= (p.Gln476=)
c.1528C= (p.Gln510=)
c.1468C= (p.Gln490=)
n.3607-479G=
n.4043-479G=
c.1351C= (p.Gln451=)
c.1369C= (p.Gln457=)
c.1126C= (p.Gln376=)
c.1159C= (p.Gln387=)
c.1177C= (p.Gln393=)
2g.127428743C>GCA348406156PROCc.1183C>G (p.Gln395Glu)
c.507C>G
c.1285C>G (p.Gln429Glu)
c.1366C>G (p.Gln456Glu)
c.1348C>G (p.Gln450Glu)
c.1246C>G (p.Gln416Glu)
n.1332-479G>C
c.1426C>G (p.Gln476Glu)
c.1528C>G (p.Gln510Glu)
c.1468C>G (p.Gln490Glu)
n.3607-479G>C
n.4043-479G>C
c.1351C>G (p.Gln451Glu)
c.1369C>G (p.Gln457Glu)
c.1126C>G (p.Gln376Glu)
c.1159C>G (p.Gln387Glu)
c.1177C>G (p.Gln393Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428743C>TCA348406158PROCc.1183C>T (p.Gln395Ter)
c.507C>T
c.1285C>T (p.Gln429Ter)
c.1366C>T (p.Gln456Ter)
c.1348C>T (p.Gln450Ter)
c.1246C>T (p.Gln416Ter)
n.1332-479G>A
c.1426C>T (p.Gln476Ter)
c.1528C>T (p.Gln510Ter)
c.1468C>T (p.Gln490Ter)
n.3607-479G>A
n.4043-479G>A
c.1351C>T (p.Gln451Ter)
c.1369C>T (p.Gln457Ter)
c.1126C>T (p.Gln376Ter)
c.1159C>T (p.Gln387Ter)
c.1177C>T (p.Gln393Ter)
2g.127428744A=CA1286884624PROCc.1184A= (p.Gln395=)
c.508A=
c.1286A= (p.Gln429=)
c.1367A= (p.Gln456=)
c.1349A= (p.Gln450=)
c.1247A= (p.Gln416=)
n.1332-480T=
c.1427A= (p.Gln476=)
c.1529A= (p.Gln510=)
c.1469A= (p.Gln490=)
n.3607-480T=
n.4043-480T=
c.1352A= (p.Gln451=)
c.1370A= (p.Gln457=)
c.1127A= (p.Gln376=)
c.1160A= (p.Gln387=)
c.1178A= (p.Gln393=)
2g.127428744A>CCA348406159PROCc.1184A>C (p.Gln395Pro)
c.508A>C
c.1286A>C (p.Gln429Pro)
c.1367A>C (p.Gln456Pro)
c.1349A>C (p.Gln450Pro)
c.1247A>C (p.Gln416Pro)
n.1332-480T>G
c.1427A>C (p.Gln476Pro)
c.1529A>C (p.Gln510Pro)
c.1469A>C (p.Gln490Pro)
n.3607-480T>G
n.4043-480T>G
c.1352A>C (p.Gln451Pro)
c.1370A>C (p.Gln457Pro)
c.1127A>C (p.Gln376Pro)
c.1160A>C (p.Gln387Pro)
c.1178A>C (p.Gln393Pro)
2g.127428744A>GCA1859541PROCc.1184A>G (p.Gln395Arg)
c.508A>G
c.1286A>G (p.Gln429Arg)
c.1367A>G (p.Gln456Arg)
c.1349A>G (p.Gln450Arg)
c.1247A>G (p.Gln416Arg)
n.1332-480T>C
c.1427A>G (p.Gln476Arg)
c.1529A>G (p.Gln510Arg)
c.1469A>G (p.Gln490Arg)
n.3607-480T>C
n.4043-480T>C
c.1352A>G (p.Gln451Arg)
c.1370A>G (p.Gln457Arg)
c.1127A>G (p.Gln376Arg)
c.1160A>G (p.Gln387Arg)
c.1178A>G (p.Gln393Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428744A>TCA348406160PROCc.1184A>T (p.Gln395Leu)
c.508A>T
c.1286A>T (p.Gln429Leu)
c.1367A>T (p.Gln456Leu)
c.1349A>T (p.Gln450Leu)
c.1247A>T (p.Gln416Leu)
n.1332-480T>A
c.1427A>T (p.Gln476Leu)
c.1529A>T (p.Gln510Leu)
c.1469A>T (p.Gln490Leu)
n.3607-480T>A
n.4043-480T>A
c.1352A>T (p.Gln451Leu)
c.1370A>T (p.Gln457Leu)
c.1127A>T (p.Gln376Leu)
c.1160A>T (p.Gln387Leu)
c.1178A>T (p.Gln393Leu)
2g.127428745G>ACA428872199PROCc.1185G>A (p.Gln395=)
c.509G>A
c.1287G>A (p.Gln429=)
c.1368G>A (p.Gln456=)
c.1350G>A (p.Gln450=)
c.1248G>A (p.Gln416=)
n.1332-481C>T
c.1428G>A (p.Gln476=)
c.1530G>A (p.Gln510=)
c.1470G>A (p.Gln490=)
n.3607-481C>T
n.4043-481C>T
c.1353G>A (p.Gln451=)
c.1371G>A (p.Gln457=)
c.1128G>A (p.Gln376=)
c.1161G>A (p.Gln387=)
c.1179G>A (p.Gln393=)
 gnomAD v4
2g.127428745G>CCA348406162PROCc.1185G>C (p.Gln395His)
c.509G>C
c.1287G>C (p.Gln429His)
c.1368G>C (p.Gln456His)
c.1350G>C (p.Gln450His)
c.1248G>C (p.Gln416His)
n.1332-481C>G
c.1428G>C (p.Gln476His)
c.1530G>C (p.Gln510His)
c.1470G>C (p.Gln490His)
n.3607-481C>G
n.4043-481C>G
c.1353G>C (p.Gln451His)
c.1371G>C (p.Gln457His)
c.1128G>C (p.Gln376His)
c.1161G>C (p.Gln387His)
c.1179G>C (p.Gln393His)
2g.127428745G=CA1286884625PROCc.1185G= (p.Gln395=)
c.509G=
c.1287G= (p.Gln429=)
c.1368G= (p.Gln456=)
c.1350G= (p.Gln450=)
c.1248G= (p.Gln416=)
n.1332-481C=
c.1428G= (p.Gln476=)
c.1530G= (p.Gln510=)
c.1470G= (p.Gln490=)
n.3607-481C=
n.4043-481C=
c.1353G= (p.Gln451=)
c.1371G= (p.Gln457=)
c.1128G= (p.Gln376=)
c.1161G= (p.Gln387=)
c.1179G= (p.Gln393=)
2g.127428745G>TCA348406163PROCc.1185G>T (p.Gln395His)
c.509G>T
c.1287G>T (p.Gln429His)
c.1368G>T (p.Gln456His)
c.1350G>T (p.Gln450His)
c.1248G>T (p.Gln416His)
n.1332-481C>A
c.1428G>T (p.Gln476His)
c.1530G>T (p.Gln510His)
c.1470G>T (p.Gln490His)
n.3607-481C>A
n.4043-481C>A
c.1353G>T (p.Gln451His)
c.1371G>T (p.Gln457His)
c.1128G>T (p.Gln376His)
c.1161G>T (p.Gln387His)
c.1179G>T (p.Gln393His)
2g.127428745_127428746insACA1286884626PROCc.1185_1186insA (p.Asp396ArgfsTer29)
c.509_510insA
c.1287_1288insA (p.Asp430ArgfsTer29)
c.1368_1369insA (p.Asp457ArgfsTer29)
c.1350_1351insA (p.Asp451ArgfsTer29)
c.1248_1249insA (p.Asp417ArgfsTer29)
n.1332-482_1332-481insT
c.1428_1429insA (p.Asp477ArgfsTer29)
c.1530_1531insA (p.Asp511ArgfsTer29)
c.1470_1471insA (p.Asp491ArgfsTer29)
n.3607-482_3607-481insT
n.4043-482_4043-481insT
c.1353_1354insA (p.Asp452ArgfsTer29)
c.1371_1372insA (p.Asp458ArgfsTer29)
c.1128_1129insA (p.Asp377ArgfsTer29)
c.1161_1162insA (p.Asp388ArgfsTer29)
c.1179_1180insA (p.Asp394ArgfsTer29)
 dbSNP
2g.127428746G>ACA348406165PROCc.1186G>A (p.Asp396Asn)
c.510G>A
c.1288G>A (p.Asp430Asn)
c.1369G>A (p.Asp457Asn)
c.1351G>A (p.Asp451Asn)
c.1249G>A (p.Asp417Asn)
n.1332-482C>T
c.1429G>A (p.Asp477Asn)
c.1531G>A (p.Asp511Asn)
c.1471G>A (p.Asp491Asn)
n.3607-482C>T
n.4043-482C>T
c.1354G>A (p.Asp452Asn)
c.1372G>A (p.Asp458Asn)
c.1129G>A (p.Asp377Asn)
c.1162G>A (p.Asp388Asn)
c.1180G>A (p.Asp394Asn)
2g.127428746G>CCA348406169PROCc.1186G>C (p.Asp396His)
c.510G>C
c.1288G>C (p.Asp430His)
c.1369G>C (p.Asp457His)
c.1351G>C (p.Asp451His)
c.1249G>C (p.Asp417His)
n.1332-482C>G
c.1429G>C (p.Asp477His)
c.1531G>C (p.Asp511His)
c.1471G>C (p.Asp491His)
n.3607-482C>G
n.4043-482C>G
c.1354G>C (p.Asp452His)
c.1372G>C (p.Asp458His)
c.1129G>C (p.Asp377His)
c.1162G>C (p.Asp388His)
c.1180G>C (p.Asp394His)
2g.127428746G>TCA348406166PROCc.1186G>T (p.Asp396Tyr)
c.510G>T
c.1288G>T (p.Asp430Tyr)
c.1369G>T (p.Asp457Tyr)
c.1351G>T (p.Asp451Tyr)
c.1249G>T (p.Asp417Tyr)
n.1332-482C>A
c.1429G>T (p.Asp477Tyr)
c.1531G>T (p.Asp511Tyr)
c.1471G>T (p.Asp491Tyr)
n.3607-482C>A
n.4043-482C>A
c.1354G>T (p.Asp452Tyr)
c.1372G>T (p.Asp458Tyr)
c.1129G>T (p.Asp377Tyr)
c.1162G>T (p.Asp388Tyr)
c.1180G>T (p.Asp394Tyr)
2g.127428747A>CCA348406171PROCc.1187A>C (p.Asp396Ala)
c.511A>C
c.1289A>C (p.Asp430Ala)
c.1370A>C (p.Asp457Ala)
c.1352A>C (p.Asp451Ala)
c.1250A>C (p.Asp417Ala)
n.1332-483T>G
c.1430A>C (p.Asp477Ala)
c.1532A>C (p.Asp511Ala)
c.1472A>C (p.Asp491Ala)
n.3607-483T>G
n.4043-483T>G
c.1355A>C (p.Asp452Ala)
c.1373A>C (p.Asp458Ala)
c.1130A>C (p.Asp377Ala)
c.1163A>C (p.Asp388Ala)
c.1181A>C (p.Asp394Ala)
2g.127428747A>GCA348406174PROCc.1187A>G (p.Asp396Gly)
c.511A>G
c.1289A>G (p.Asp430Gly)
c.1370A>G (p.Asp457Gly)
c.1352A>G (p.Asp451Gly)
c.1250A>G (p.Asp417Gly)
n.1332-483T>C
c.1430A>G (p.Asp477Gly)
c.1532A>G (p.Asp511Gly)
c.1472A>G (p.Asp491Gly)
n.3607-483T>C
n.4043-483T>C
c.1355A>G (p.Asp452Gly)
c.1373A>G (p.Asp458Gly)
c.1130A>G (p.Asp377Gly)
c.1163A>G (p.Asp388Gly)
c.1181A>G (p.Asp394Gly)
2g.127428747A>TCA348406172PROCc.1187A>T (p.Asp396Val)
c.511A>T
c.1289A>T (p.Asp430Val)
c.1370A>T (p.Asp457Val)
c.1352A>T (p.Asp451Val)
c.1250A>T (p.Asp417Val)
n.1332-483T>A
c.1430A>T (p.Asp477Val)
c.1532A>T (p.Asp511Val)
c.1472A>T (p.Asp491Val)
n.3607-483T>A
n.4043-483T>A
c.1355A>T (p.Asp452Val)
c.1373A>T (p.Asp458Val)
c.1130A>T (p.Asp377Val)
c.1163A>T (p.Asp388Val)
c.1181A>T (p.Asp394Val)
2g.127428748T>ACA348406176PROCc.1188T>A (p.Asp396Glu)
c.512T>A
c.1290T>A (p.Asp430Glu)
c.1371T>A (p.Asp457Glu)
c.1353T>A (p.Asp451Glu)
c.1251T>A (p.Asp417Glu)
n.1332-484A>T
c.1431T>A (p.Asp477Glu)
c.1533T>A (p.Asp511Glu)
c.1473T>A (p.Asp491Glu)
n.3607-484A>T
n.4043-484A>T
c.1356T>A (p.Asp452Glu)
c.1374T>A (p.Asp458Glu)
c.1131T>A (p.Asp377Glu)
c.1164T>A (p.Asp388Glu)
c.1182T>A (p.Asp394Glu)
2g.127428748T>CCA428872268PROCc.1188T>C (p.Asp396=)
c.512T>C
c.1290T>C (p.Asp430=)
c.1371T>C (p.Asp457=)
c.1353T>C (p.Asp451=)
c.1251T>C (p.Asp417=)
n.1332-484A>G
c.1431T>C (p.Asp477=)
c.1533T>C (p.Asp511=)
c.1473T>C (p.Asp491=)
n.3607-484A>G
n.4043-484A>G
c.1356T>C (p.Asp452=)
c.1374T>C (p.Asp458=)
c.1131T>C (p.Asp377=)
c.1164T>C (p.Asp388=)
c.1182T>C (p.Asp394=)
 dbSNP gnomAD v4
2g.127428748T>GCA348406178PROCc.1188T>G (p.Asp396Glu)
c.512T>G
c.1290T>G (p.Asp430Glu)
c.1371T>G (p.Asp457Glu)
c.1353T>G (p.Asp451Glu)
c.1251T>G (p.Asp417Glu)
n.1332-484A>C
c.1431T>G (p.Asp477Glu)
c.1533T>G (p.Asp511Glu)
c.1473T>G (p.Asp491Glu)
n.3607-484A>C
n.4043-484A>C
c.1356T>G (p.Asp452Glu)
c.1374T>G (p.Asp458Glu)
c.1131T>G (p.Asp377Glu)
c.1164T>G (p.Asp388Glu)
c.1182T>G (p.Asp394Glu)
2g.127428748T=CA1286884627PROCc.1188T= (p.Asp396=)
c.512T=
c.1290T= (p.Asp430=)
c.1371T= (p.Asp457=)
c.1353T= (p.Asp451=)
c.1251T= (p.Asp417=)
n.1332-484A=
c.1431T= (p.Asp477=)
c.1533T= (p.Asp511=)
c.1473T= (p.Asp491=)
n.3607-484A=
n.4043-484A=
c.1356T= (p.Asp452=)
c.1374T= (p.Asp458=)
c.1131T= (p.Asp377=)
c.1164T= (p.Asp388=)
c.1182T= (p.Asp394=)
2g.127428749G>ACA348406180PROCc.1189G>A (p.Ala397Thr)
c.513G>A
c.1291G>A (p.Ala431Thr)
c.1372G>A (p.Ala458Thr)
c.1354G>A (p.Ala452Thr)
c.1252G>A (p.Ala418Thr)
n.1332-485C>T
c.1432G>A (p.Ala478Thr)
c.1534G>A (p.Ala512Thr)
c.1474G>A (p.Ala492Thr)
n.3607-485C>T
n.4043-485C>T
c.1357G>A (p.Ala453Thr)
c.1375G>A (p.Ala459Thr)
c.1132G>A (p.Ala378Thr)
c.1165G>A (p.Ala389Thr)
c.1183G>A (p.Ala395Thr)
 COSMIC
2g.127428749G>CCA348406181PROCc.1189G>C (p.Ala397Pro)
c.513G>C
c.1291G>C (p.Ala431Pro)
c.1372G>C (p.Ala458Pro)
c.1354G>C (p.Ala452Pro)
c.1252G>C (p.Ala418Pro)
n.1332-485C>G
c.1432G>C (p.Ala478Pro)
c.1534G>C (p.Ala512Pro)
c.1474G>C (p.Ala492Pro)
n.3607-485C>G
n.4043-485C>G
c.1357G>C (p.Ala453Pro)
c.1375G>C (p.Ala459Pro)
c.1132G>C (p.Ala378Pro)
c.1165G>C (p.Ala389Pro)
c.1183G>C (p.Ala395Pro)
2g.127428749G>TCA348406183PROCc.1189G>T (p.Ala397Ser)
c.513G>T
c.1291G>T (p.Ala431Ser)
c.1372G>T (p.Ala458Ser)
c.1354G>T (p.Ala452Ser)
c.1252G>T (p.Ala418Ser)
n.1332-485C>A
c.1432G>T (p.Ala478Ser)
c.1534G>T (p.Ala512Ser)
c.1474G>T (p.Ala492Ser)
n.3607-485C>A
n.4043-485C>A
c.1357G>T (p.Ala453Ser)
c.1375G>T (p.Ala459Ser)
c.1132G>T (p.Ala378Ser)
c.1165G>T (p.Ala389Ser)
c.1183G>T (p.Ala395Ser)
2g.127428750C>ACA348406185PROCc.1190C>A (p.Ala397Asp)
c.514C>A
c.1292C>A (p.Ala431Asp)
c.1373C>A (p.Ala458Asp)
c.1355C>A (p.Ala452Asp)
c.1253C>A (p.Ala418Asp)
n.1332-486G>T
c.1433C>A (p.Ala478Asp)
c.1535C>A (p.Ala512Asp)
c.1475C>A (p.Ala492Asp)
n.3607-486G>T
n.4043-486G>T
c.1358C>A (p.Ala453Asp)
c.1376C>A (p.Ala459Asp)
c.1133C>A (p.Ala378Asp)
c.1166C>A (p.Ala389Asp)
c.1184C>A (p.Ala395Asp)
2g.127428750C=CA1286884628PROCc.1190C= (p.Ala397=)
c.514C=
c.1292C= (p.Ala431=)
c.1373C= (p.Ala458=)
c.1355C= (p.Ala452=)
c.1253C= (p.Ala418=)
n.1332-486G=
c.1433C= (p.Ala478=)
c.1535C= (p.Ala512=)
c.1475C= (p.Ala492=)
n.3607-486G=
n.4043-486G=
c.1358C= (p.Ala453=)
c.1376C= (p.Ala459=)
c.1133C= (p.Ala378=)
c.1166C= (p.Ala389=)
c.1184C= (p.Ala395=)
2g.127428750C>GCA348406187PROCc.1190C>G (p.Ala397Gly)
c.514C>G
c.1292C>G (p.Ala431Gly)
c.1373C>G (p.Ala458Gly)
c.1355C>G (p.Ala452Gly)
c.1253C>G (p.Ala418Gly)
n.1332-486G>C
c.1433C>G (p.Ala478Gly)
c.1535C>G (p.Ala512Gly)
c.1475C>G (p.Ala492Gly)
n.3607-486G>C
n.4043-486G>C
c.1358C>G (p.Ala453Gly)
c.1376C>G (p.Ala459Gly)
c.1133C>G (p.Ala378Gly)
c.1166C>G (p.Ala389Gly)
c.1184C>G (p.Ala395Gly)
2g.127428750C>TCA348406189PROCc.1190C>T (p.Ala397Val)
c.514C>T
c.1292C>T (p.Ala431Val)
c.1373C>T (p.Ala458Val)
c.1355C>T (p.Ala452Val)
c.1253C>T (p.Ala418Val)
n.1332-486G>A
c.1433C>T (p.Ala478Val)
c.1535C>T (p.Ala512Val)
c.1475C>T (p.Ala492Val)
n.3607-486G>A
n.4043-486G>A
c.1358C>T (p.Ala453Val)
c.1376C>T (p.Ala459Val)
c.1133C>T (p.Ala378Val)
c.1166C>T (p.Ala389Val)
c.1184C>T (p.Ala395Val)
 dbSNP gnomAD v2 gnomAD v4
2g.127428751C>ACA428872307PROCc.1191C>A (p.Ala397=)
c.515C>A
c.1293C>A (p.Ala431=)
c.1374C>A (p.Ala458=)
c.1356C>A (p.Ala452=)
c.1254C>A (p.Ala418=)
n.1332-487G>T
c.1434C>A (p.Ala478=)
c.1536C>A (p.Ala512=)
c.1476C>A (p.Ala492=)
n.3607-487G>T
n.4043-487G>T
c.1359C>A (p.Ala453=)
c.1377C>A (p.Ala459=)
c.1134C>A (p.Ala378=)
c.1167C>A (p.Ala389=)
c.1185C>A (p.Ala395=)
 COSMIC COSMIC
2g.127428751C>GCA428872311PROCc.1191C>G (p.Ala397=)
c.515C>G
c.1293C>G (p.Ala431=)
c.1374C>G (p.Ala458=)
c.1356C>G (p.Ala452=)
c.1254C>G (p.Ala418=)
n.1332-487G>C
c.1434C>G (p.Ala478=)
c.1536C>G (p.Ala512=)
c.1476C>G (p.Ala492=)
n.3607-487G>C
n.4043-487G>C
c.1359C>G (p.Ala453=)
c.1377C>G (p.Ala459=)
c.1134C>G (p.Ala378=)
c.1167C>G (p.Ala389=)
c.1185C>G (p.Ala395=)
2g.127428751C>TCA428872313PROCc.1191C>T (p.Ala397=)
c.515C>T
c.1293C>T (p.Ala431=)
c.1374C>T (p.Ala458=)
c.1356C>T (p.Ala452=)
c.1254C>T (p.Ala418=)
n.1332-487G>A
c.1434C>T (p.Ala478=)
c.1536C>T (p.Ala512=)
c.1476C>T (p.Ala492=)
n.3607-487G>A
n.4043-487G>A
c.1359C>T (p.Ala453=)
c.1377C>T (p.Ala459=)
c.1134C>T (p.Ala378=)
c.1167C>T (p.Ala389=)
c.1185C>T (p.Ala395=)
2g.127428752T>ACA348406191PROCc.1192T>A (p.Cys398Ser)
c.516T>A
c.1294T>A (p.Cys432Ser)
c.1375T>A (p.Cys459Ser)
c.1357T>A (p.Cys453Ser)
c.1255T>A (p.Cys419Ser)
n.1332-488A>T
c.1435T>A (p.Cys479Ser)
c.1537T>A (p.Cys513Ser)
c.1477T>A (p.Cys493Ser)
n.3607-488A>T
n.4043-488A>T
c.1360T>A (p.Cys454Ser)
c.1378T>A (p.Cys460Ser)
c.1135T>A (p.Cys379Ser)
c.1168T>A (p.Cys390Ser)
c.1186T>A (p.Cys396Ser)
2g.127428752T>CCA348406192PROCc.1192T>C (p.Cys398Arg)
c.516T>C
c.1294T>C (p.Cys432Arg)
c.1375T>C (p.Cys459Arg)
c.1357T>C (p.Cys453Arg)
c.1255T>C (p.Cys419Arg)
n.1332-488A>G
c.1435T>C (p.Cys479Arg)
c.1537T>C (p.Cys513Arg)
c.1477T>C (p.Cys493Arg)
n.3607-488A>G
n.4043-488A>G
c.1360T>C (p.Cys454Arg)
c.1378T>C (p.Cys460Arg)
c.1135T>C (p.Cys379Arg)
c.1168T>C (p.Cys390Arg)
c.1186T>C (p.Cys396Arg)
 dbSNP gnomAD v4
2g.127428752T>GCA348406194PROCc.1192T>G (p.Cys398Gly)
c.516T>G
c.1294T>G (p.Cys432Gly)
c.1375T>G (p.Cys459Gly)
c.1357T>G (p.Cys453Gly)
c.1255T>G (p.Cys419Gly)
n.1332-488A>C
c.1435T>G (p.Cys479Gly)
c.1537T>G (p.Cys513Gly)
c.1477T>G (p.Cys493Gly)
n.3607-488A>C
n.4043-488A>C
c.1360T>G (p.Cys454Gly)
c.1378T>G (p.Cys460Gly)
c.1135T>G (p.Cys379Gly)
c.1168T>G (p.Cys390Gly)
c.1186T>G (p.Cys396Gly)
2g.127428752T=CA1286884629PROCc.1192T= (p.Cys398=)
c.516T=
c.1294T= (p.Cys432=)
c.1375T= (p.Cys459=)
c.1357T= (p.Cys453=)
c.1255T= (p.Cys419=)
n.1332-488A=
c.1435T= (p.Cys479=)
c.1537T= (p.Cys513=)
c.1477T= (p.Cys493=)
n.3607-488A=
n.4043-488A=
c.1360T= (p.Cys454=)
c.1378T= (p.Cys460=)
c.1135T= (p.Cys379=)
c.1168T= (p.Cys390=)
c.1186T= (p.Cys396=)
2g.127428753G>ACA348406197PROCc.1193G>A (p.Cys398Tyr)
c.517G>A
c.1295G>A (p.Cys432Tyr)
c.1376G>A (p.Cys459Tyr)
c.1358G>A (p.Cys453Tyr)
c.1256G>A (p.Cys419Tyr)
n.1332-489C>T
c.1436G>A (p.Cys479Tyr)
c.1538G>A (p.Cys513Tyr)
c.1478G>A (p.Cys493Tyr)
n.3607-489C>T
n.4043-489C>T
c.1361G>A (p.Cys454Tyr)
c.1379G>A (p.Cys460Tyr)
c.1136G>A (p.Cys379Tyr)
c.1169G>A (p.Cys390Tyr)
c.1187G>A (p.Cys396Tyr)
2g.127428753G>CCA348406198PROCc.1193G>C (p.Cys398Ser)
c.517G>C
c.1295G>C (p.Cys432Ser)
c.1376G>C (p.Cys459Ser)
c.1358G>C (p.Cys453Ser)
c.1256G>C (p.Cys419Ser)
n.1332-489C>G
c.1436G>C (p.Cys479Ser)
c.1538G>C (p.Cys513Ser)
c.1478G>C (p.Cys493Ser)
n.3607-489C>G
n.4043-489C>G
c.1361G>C (p.Cys454Ser)
c.1379G>C (p.Cys460Ser)
c.1136G>C (p.Cys379Ser)
c.1169G>C (p.Cys390Ser)
c.1187G>C (p.Cys396Ser)
2g.127428753G>TCA348406200PROCc.1193G>T (p.Cys398Phe)
c.517G>T
c.1295G>T (p.Cys432Phe)
c.1376G>T (p.Cys459Phe)
c.1358G>T (p.Cys453Phe)
c.1256G>T (p.Cys419Phe)
n.1332-489C>A
c.1436G>T (p.Cys479Phe)
c.1538G>T (p.Cys513Phe)
c.1478G>T (p.Cys493Phe)
n.3607-489C>A
n.4043-489C>A
c.1361G>T (p.Cys454Phe)
c.1379G>T (p.Cys460Phe)
c.1136G>T (p.Cys379Phe)
c.1169G>T (p.Cys390Phe)
c.1187G>T (p.Cys396Phe)
2g.127428754C>ACA348406204PROCc.1194C>A (p.Cys398Ter)
c.518C>A
c.1296C>A (p.Cys432Ter)
c.1377C>A (p.Cys459Ter)
c.1359C>A (p.Cys453Ter)
c.1257C>A (p.Cys419Ter)
n.1332-490G>T
c.1437C>A (p.Cys479Ter)
c.1539C>A (p.Cys513Ter)
c.1479C>A (p.Cys493Ter)
n.3607-490G>T
n.4043-490G>T
c.1362C>A (p.Cys454Ter)
c.1380C>A (p.Cys460Ter)
c.1137C>A (p.Cys379Ter)
c.1170C>A (p.Cys390Ter)
c.1188C>A (p.Cys396Ter)
2g.127428754C=CA1286884630PROCc.1194C= (p.Cys398=)
c.518C=
c.1296C= (p.Cys432=)
c.1377C= (p.Cys459=)
c.1359C= (p.Cys453=)
c.1257C= (p.Cys419=)
n.1332-490G=
c.1437C= (p.Cys479=)
c.1539C= (p.Cys513=)
c.1479C= (p.Cys493=)
n.3607-490G=
n.4043-490G=
c.1362C= (p.Cys454=)
c.1380C= (p.Cys460=)
c.1137C= (p.Cys379=)
c.1170C= (p.Cys390=)
c.1188C= (p.Cys396=)
2g.127428754C>GCA348406203PROCc.1194C>G (p.Cys398Trp)
c.518C>G
c.1296C>G (p.Cys432Trp)
c.1377C>G (p.Cys459Trp)
c.1359C>G (p.Cys453Trp)
c.1257C>G (p.Cys419Trp)
n.1332-490G>C
c.1437C>G (p.Cys479Trp)
c.1539C>G (p.Cys513Trp)
c.1479C>G (p.Cys493Trp)
n.3607-490G>C
n.4043-490G>C
c.1362C>G (p.Cys454Trp)
c.1380C>G (p.Cys460Trp)
c.1137C>G (p.Cys379Trp)
c.1170C>G (p.Cys390Trp)
c.1188C>G (p.Cys396Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428754C>TCA1859542PROCc.1194C>T (p.Cys398=)
c.518C>T
c.1296C>T (p.Cys432=)
c.1377C>T (p.Cys459=)
c.1359C>T (p.Cys453=)
c.1257C>T (p.Cys419=)
n.1332-490G>A
c.1437C>T (p.Cys479=)
c.1539C>T (p.Cys513=)
c.1479C>T (p.Cys493=)
n.3607-490G>A
n.4043-490G>A
c.1362C>T (p.Cys454=)
c.1380C>T (p.Cys460=)
c.1137C>T (p.Cys379=)
c.1170C>T (p.Cys390=)
c.1188C>T (p.Cys396=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428755G>ACA1859543PROCc.1195G>A (p.Glu399Lys)
c.519G>A
c.1297G>A (p.Glu433Lys)
c.1378G>A (p.Glu460Lys)
c.1360G>A (p.Glu454Lys)
c.1258G>A (p.Glu420Lys)
n.1332-491C>T
c.1438G>A (p.Glu480Lys)
c.1540G>A (p.Glu514Lys)
c.1480G>A (p.Glu494Lys)
n.3607-491C>T
n.4043-491C>T
c.1363G>A (p.Glu455Lys)
c.1381G>A (p.Glu461Lys)
c.1138G>A (p.Glu380Lys)
c.1171G>A (p.Glu391Lys)
c.1189G>A (p.Glu397Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.127428755G>CCA348406207PROCc.1195G>C (p.Glu399Gln)
c.519G>C
c.1297G>C (p.Glu433Gln)
c.1378G>C (p.Glu460Gln)
c.1360G>C (p.Glu454Gln)
c.1258G>C (p.Glu420Gln)
n.1332-491C>G
c.1438G>C (p.Glu480Gln)
c.1540G>C (p.Glu514Gln)
c.1480G>C (p.Glu494Gln)
n.3607-491C>G
n.4043-491C>G
c.1363G>C (p.Glu455Gln)
c.1381G>C (p.Glu461Gln)
c.1138G>C (p.Glu380Gln)
c.1171G>C (p.Glu391Gln)
c.1189G>C (p.Glu397Gln)
2g.127428755G=CA1286884631PROCc.1195G= (p.Glu399=)
c.519G=
c.1297G= (p.Glu433=)
c.1378G= (p.Glu460=)
c.1360G= (p.Glu454=)
c.1258G= (p.Glu420=)
n.1332-491C=
c.1438G= (p.Glu480=)
c.1540G= (p.Glu514=)
c.1480G= (p.Glu494=)
n.3607-491C=
n.4043-491C=
c.1363G= (p.Glu455=)
c.1381G= (p.Glu461=)
c.1138G= (p.Glu380=)
c.1171G= (p.Glu391=)
c.1189G= (p.Glu397=)
2g.127428755G>TCA348406208PROCc.1195G>T (p.Glu399Ter)
c.519G>T
c.1297G>T (p.Glu433Ter)
c.1378G>T (p.Glu460Ter)
c.1360G>T (p.Glu454Ter)
c.1258G>T (p.Glu420Ter)
n.1332-491C>A
c.1438G>T (p.Glu480Ter)
c.1540G>T (p.Glu514Ter)
c.1480G>T (p.Glu494Ter)
n.3607-491C>A
n.4043-491C>A
c.1363G>T (p.Glu455Ter)
c.1381G>T (p.Glu461Ter)
c.1138G>T (p.Glu380Ter)
c.1171G>T (p.Glu391Ter)
c.1189G>T (p.Glu397Ter)
2g.127428756A=CA1286884632PROCc.1196A= (p.Glu399=)
c.520A=
c.1298A= (p.Glu433=)
c.1379A= (p.Glu460=)
c.1361A= (p.Glu454=)
c.1259A= (p.Glu420=)
n.1332-492T=
c.1439A= (p.Glu480=)
c.1541A= (p.Glu514=)
c.1481A= (p.Glu494=)
n.3607-492T=
n.4043-492T=
c.1364A= (p.Glu455=)
c.1382A= (p.Glu461=)
c.1139A= (p.Glu380=)
c.1172A= (p.Glu391=)
c.1190A= (p.Glu397=)
2g.127428756A>CCA1859544PROCc.1196A>C (p.Glu399Ala)
c.520A>C
c.1298A>C (p.Glu433Ala)
c.1379A>C (p.Glu460Ala)
c.1361A>C (p.Glu454Ala)
c.1259A>C (p.Glu420Ala)
n.1332-492T>G
c.1439A>C (p.Glu480Ala)
c.1541A>C (p.Glu514Ala)
c.1481A>C (p.Glu494Ala)
n.3607-492T>G
n.4043-492T>G
c.1364A>C (p.Glu455Ala)
c.1382A>C (p.Glu461Ala)
c.1139A>C (p.Glu380Ala)
c.1172A>C (p.Glu391Ala)
c.1190A>C (p.Glu397Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428756A>GCA348406210PROCc.1196A>G (p.Glu399Gly)
c.520A>G
c.1298A>G (p.Glu433Gly)
c.1379A>G (p.Glu460Gly)
c.1361A>G (p.Glu454Gly)
c.1259A>G (p.Glu420Gly)
n.1332-492T>C
c.1439A>G (p.Glu480Gly)
c.1541A>G (p.Glu514Gly)
c.1481A>G (p.Glu494Gly)
n.3607-492T>C
n.4043-492T>C
c.1364A>G (p.Glu455Gly)
c.1382A>G (p.Glu461Gly)
c.1139A>G (p.Glu380Gly)
c.1172A>G (p.Glu391Gly)
c.1190A>G (p.Glu397Gly)
2g.127428756A>TCA348406212PROCc.1196A>T (p.Glu399Val)
c.520A>T
c.1298A>T (p.Glu433Val)
c.1379A>T (p.Glu460Val)
c.1361A>T (p.Glu454Val)
c.1259A>T (p.Glu420Val)
n.1332-492T>A
c.1439A>T (p.Glu480Val)
c.1541A>T (p.Glu514Val)
c.1481A>T (p.Glu494Val)
n.3607-492T>A
n.4043-492T>A
c.1364A>T (p.Glu455Val)
c.1382A>T (p.Glu461Val)
c.1139A>T (p.Glu380Val)
c.1172A>T (p.Glu391Val)
c.1190A>T (p.Glu397Val)
 dbSNP gnomAD v3 gnomAD v4
2g.127428757G>ACA428872369PROCc.1197G>A (p.Glu399=)
c.521G>A
c.1299G>A (p.Glu433=)
c.1380G>A (p.Glu460=)
c.1362G>A (p.Glu454=)
c.1260G>A (p.Glu420=)
n.1332-493C>T
c.1440G>A (p.Glu480=)
c.1542G>A (p.Glu514=)
c.1482G>A (p.Glu494=)
n.3607-493C>T
n.4043-493C>T
c.1365G>A (p.Glu455=)
c.1383G>A (p.Glu461=)
c.1140G>A (p.Glu380=)
c.1173G>A (p.Glu391=)
c.1191G>A (p.Glu397=)
 dbSNP gnomAD v2 gnomAD v4
2g.127428757G>CCA348406213PROCc.1197G>C (p.Glu399Asp)
c.521G>C
c.1299G>C (p.Glu433Asp)
c.1380G>C (p.Glu460Asp)
c.1362G>C (p.Glu454Asp)
c.1260G>C (p.Glu420Asp)
n.1332-493C>G
c.1440G>C (p.Glu480Asp)
c.1542G>C (p.Glu514Asp)
c.1482G>C (p.Glu494Asp)
n.3607-493C>G
n.4043-493C>G
c.1365G>C (p.Glu455Asp)
c.1383G>C (p.Glu461Asp)
c.1140G>C (p.Glu380Asp)
c.1173G>C (p.Glu391Asp)
c.1191G>C (p.Glu397Asp)
2g.127428757G=CA1286884633PROCc.1197G= (p.Glu399=)
c.521G=
c.1299G= (p.Glu433=)
c.1380G= (p.Glu460=)
c.1362G= (p.Glu454=)
c.1260G= (p.Glu420=)
n.1332-493C=
c.1440G= (p.Glu480=)
c.1542G= (p.Glu514=)
c.1482G= (p.Glu494=)
n.3607-493C=
n.4043-493C=
c.1365G= (p.Glu455=)
c.1383G= (p.Glu461=)
c.1140G= (p.Glu380=)
c.1173G= (p.Glu391=)
c.1191G= (p.Glu397=)
2g.127428757G>TCA348406215PROCc.1197G>T (p.Glu399Asp)
c.521G>T
c.1299G>T (p.Glu433Asp)
c.1380G>T (p.Glu460Asp)
c.1362G>T (p.Glu454Asp)
c.1260G>T (p.Glu420Asp)
n.1332-493C>A
c.1440G>T (p.Glu480Asp)
c.1542G>T (p.Glu514Asp)
c.1482G>T (p.Glu494Asp)
n.3607-493C>A
n.4043-493C>A
c.1365G>T (p.Glu455Asp)
c.1383G>T (p.Glu461Asp)
c.1140G>T (p.Glu380Asp)
c.1173G>T (p.Glu391Asp)
c.1191G>T (p.Glu397Asp)
 dbSNP
2g.127428758G>ACA348406216PROCc.1198G>A (p.Gly400Ser)
c.522G>A
c.1300G>A (p.Gly434Ser)
c.1381G>A (p.Gly461Ser)
c.1363G>A (p.Gly455Ser)
c.1261G>A (p.Gly421Ser)
n.1332-494C>T
c.1441G>A (p.Gly481Ser)
c.1543G>A (p.Gly515Ser)
c.1483G>A (p.Gly495Ser)
n.3607-494C>T
n.4043-494C>T
c.1366G>A (p.Gly456Ser)
c.1384G>A (p.Gly462Ser)
c.1141G>A (p.Gly381Ser)
c.1174G>A (p.Gly392Ser)
c.1192G>A (p.Gly398Ser)
 dbSNP
2g.127428758G>CCA348406217PROCc.1198G>C (p.Gly400Arg)
c.522G>C
c.1300G>C (p.Gly434Arg)
c.1381G>C (p.Gly461Arg)
c.1363G>C (p.Gly455Arg)
c.1261G>C (p.Gly421Arg)
n.1332-494C>G
c.1441G>C (p.Gly481Arg)
c.1543G>C (p.Gly515Arg)
c.1483G>C (p.Gly495Arg)
n.3607-494C>G
n.4043-494C>G
c.1366G>C (p.Gly456Arg)
c.1384G>C (p.Gly462Arg)
c.1141G>C (p.Gly381Arg)
c.1174G>C (p.Gly392Arg)
c.1192G>C (p.Gly398Arg)
2g.127428758G=CA1286884634PROCc.1198G= (p.Gly400=)
c.522G=
c.1300G= (p.Gly434=)
c.1381G= (p.Gly461=)
c.1363G= (p.Gly455=)
c.1261G= (p.Gly421=)
n.1332-494C=
c.1441G= (p.Gly481=)
c.1543G= (p.Gly515=)
c.1483G= (p.Gly495=)
n.3607-494C=
n.4043-494C=
c.1366G= (p.Gly456=)
c.1384G= (p.Gly462=)
c.1141G= (p.Gly381=)
c.1174G= (p.Gly392=)
c.1192G= (p.Gly398=)
2g.127428758G>TCA348406219PROCc.1198G>T (p.Gly400Cys)
c.522G>T
c.1300G>T (p.Gly434Cys)
c.1381G>T (p.Gly461Cys)
c.1363G>T (p.Gly455Cys)
c.1261G>T (p.Gly421Cys)
n.1332-494C>A
c.1441G>T (p.Gly481Cys)
c.1543G>T (p.Gly515Cys)
c.1483G>T (p.Gly495Cys)
n.3607-494C>A
n.4043-494C>A
c.1366G>T (p.Gly456Cys)
c.1384G>T (p.Gly462Cys)
c.1141G>T (p.Gly381Cys)
c.1174G>T (p.Gly392Cys)
c.1192G>T (p.Gly398Cys)
2g.127428759G>ACA348406222PROCc.1199G>A (p.Gly400Asp)
c.523G>A
c.1301G>A (p.Gly434Asp)
c.1382G>A (p.Gly461Asp)
c.1364G>A (p.Gly455Asp)
c.1262G>A (p.Gly421Asp)
n.1332-495C>T
c.1442G>A (p.Gly481Asp)
c.1544G>A (p.Gly515Asp)
c.1484G>A (p.Gly495Asp)
n.3607-495C>T
n.4043-495C>T
c.1367G>A (p.Gly456Asp)
c.1385G>A (p.Gly462Asp)
c.1142G>A (p.Gly381Asp)
c.1175G>A (p.Gly392Asp)
c.1193G>A (p.Gly398Asp)
2g.127428759G>CCA348406223PROCc.1199G>C (p.Gly400Ala)
c.523G>C
c.1301G>C (p.Gly434Ala)
c.1382G>C (p.Gly461Ala)
c.1364G>C (p.Gly455Ala)
c.1262G>C (p.Gly421Ala)
n.1332-495C>G
c.1442G>C (p.Gly481Ala)
c.1544G>C (p.Gly515Ala)
c.1484G>C (p.Gly495Ala)
n.3607-495C>G
n.4043-495C>G
c.1367G>C (p.Gly456Ala)
c.1385G>C (p.Gly462Ala)
c.1142G>C (p.Gly381Ala)
c.1175G>C (p.Gly392Ala)
c.1193G>C (p.Gly398Ala)
 gnomAD v4
2g.127428759G>TCA348406225PROCc.1199G>T (p.Gly400Val)
c.523G>T
c.1301G>T (p.Gly434Val)
c.1382G>T (p.Gly461Val)
c.1364G>T (p.Gly455Val)
c.1262G>T (p.Gly421Val)
n.1332-495C>A
c.1442G>T (p.Gly481Val)
c.1544G>T (p.Gly515Val)
c.1484G>T (p.Gly495Val)
n.3607-495C>A
n.4043-495C>A
c.1367G>T (p.Gly456Val)
c.1385G>T (p.Gly462Val)
c.1142G>T (p.Gly381Val)
c.1175G>T (p.Gly392Val)
c.1193G>T (p.Gly398Val)
2g.127428760C>ACA428872389PROCc.1200C>A (p.Gly400=)
c.524C>A
c.1302C>A (p.Gly434=)
c.1383C>A (p.Gly461=)
c.1365C>A (p.Gly455=)
c.1263C>A (p.Gly421=)
n.1332-496G>T
c.1443C>A (p.Gly481=)
c.1545C>A (p.Gly515=)
c.1485C>A (p.Gly495=)
n.3607-496G>T
n.4043-496G>T
c.1368C>A (p.Gly456=)
c.1386C>A (p.Gly462=)
c.1143C>A (p.Gly381=)
c.1176C>A (p.Gly392=)
c.1194C>A (p.Gly398=)
2g.127428760C=CA1286884635PROCc.1200C= (p.Gly400=)
c.524C=
c.1302C= (p.Gly434=)
c.1383C= (p.Gly461=)
c.1365C= (p.Gly455=)
c.1263C= (p.Gly421=)
n.1332-496G=
c.1443C= (p.Gly481=)
c.1545C= (p.Gly515=)
c.1485C= (p.Gly495=)
n.3607-496G=
n.4043-496G=
c.1368C= (p.Gly456=)
c.1386C= (p.Gly462=)
c.1143C= (p.Gly381=)
c.1176C= (p.Gly392=)
c.1194C= (p.Gly398=)
2g.127428760C>GCA428872392PROCc.1200C>G (p.Gly400=)
c.524C>G
c.1302C>G (p.Gly434=)
c.1383C>G (p.Gly461=)
c.1365C>G (p.Gly455=)
c.1263C>G (p.Gly421=)
n.1332-496G>C
c.1443C>G (p.Gly481=)
c.1545C>G (p.Gly515=)
c.1485C>G (p.Gly495=)
n.3607-496G>C
n.4043-496G>C
c.1368C>G (p.Gly456=)
c.1386C>G (p.Gly462=)
c.1143C>G (p.Gly381=)
c.1176C>G (p.Gly392=)
c.1194C>G (p.Gly398=)
2g.127428760C>TCA1859545PROCc.1200C>T (p.Gly400=)
c.524C>T
c.1302C>T (p.Gly434=)
c.1383C>T (p.Gly461=)
c.1365C>T (p.Gly455=)
c.1263C>T (p.Gly421=)
n.1332-496G>A
c.1443C>T (p.Gly481=)
c.1545C>T (p.Gly515=)
c.1485C>T (p.Gly495=)
n.3607-496G>A
n.4043-496G>A
c.1368C>T (p.Gly456=)
c.1386C>T (p.Gly462=)
c.1143C>T (p.Gly381=)
c.1176C>T (p.Gly392=)
c.1194C>T (p.Gly398=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.127428761G>ACA211710PROCc.1201G>A (p.Asp401Asn)
c.525G>A
c.1303G>A (p.Asp435Asn)
c.1384G>A (p.Asp462Asn)
c.1366G>A (p.Asp456Asn)
c.1264G>A (p.Asp422Asn)
n.1332-497C>T
c.1444G>A (p.Asp482Asn)
c.1546G>A (p.Asp516Asn)
c.1486G>A (p.Asp496Asn)
n.3607-497C>T
n.4043-497C>T
c.1369G>A (p.Asp457Asn)
c.1387G>A (p.Asp463Asn)
c.1144G>A (p.Asp382Asn)
c.1177G>A (p.Asp393Asn)
c.1195G>A (p.Asp399Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428761G>CCA348406231PROCc.1201G>C (p.Asp401His)
c.525G>C
c.1303G>C (p.Asp435His)
c.1384G>C (p.Asp462His)
c.1366G>C (p.Asp456His)
c.1264G>C (p.Asp422His)
n.1332-497C>G
c.1444G>C (p.Asp482His)
c.1546G>C (p.Asp516His)
c.1486G>C (p.Asp496His)
n.3607-497C>G
n.4043-497C>G
c.1369G>C (p.Asp457His)
c.1387G>C (p.Asp463His)
c.1144G>C (p.Asp382His)
c.1177G>C (p.Asp393His)
c.1195G>C (p.Asp399His)
2g.127428761G=CA1286884636PROCc.1201G= (p.Asp401=)
c.525G=
c.1303G= (p.Asp435=)
c.1384G= (p.Asp462=)
c.1366G= (p.Asp456=)
c.1264G= (p.Asp422=)
n.1332-497C=
c.1444G= (p.Asp482=)
c.1546G= (p.Asp516=)
c.1486G= (p.Asp496=)
n.3607-497C=
n.4043-497C=
c.1369G= (p.Asp457=)
c.1387G= (p.Asp463=)
c.1144G= (p.Asp382=)
c.1177G= (p.Asp393=)
c.1195G= (p.Asp399=)
2g.127428761G>TCA348406229PROCc.1201G>T (p.Asp401Tyr)
c.525G>T
c.1303G>T (p.Asp435Tyr)
c.1384G>T (p.Asp462Tyr)
c.1366G>T (p.Asp456Tyr)
c.1264G>T (p.Asp422Tyr)
n.1332-497C>A
c.1444G>T (p.Asp482Tyr)
c.1546G>T (p.Asp516Tyr)
c.1486G>T (p.Asp496Tyr)
n.3607-497C>A
n.4043-497C>A
c.1369G>T (p.Asp457Tyr)
c.1387G>T (p.Asp463Tyr)
c.1144G>T (p.Asp382Tyr)
c.1177G>T (p.Asp393Tyr)
c.1195G>T (p.Asp399Tyr)
2g.127428762A>CCA348406234PROCc.1202A>C (p.Asp401Ala)
c.526A>C
c.1304A>C (p.Asp435Ala)
c.1385A>C (p.Asp462Ala)
c.1367A>C (p.Asp456Ala)
c.1265A>C (p.Asp422Ala)
n.1332-498T>G
c.1445A>C (p.Asp482Ala)
c.1547A>C (p.Asp516Ala)
c.1487A>C (p.Asp496Ala)
n.3607-498T>G
n.4043-498T>G
c.1370A>C (p.Asp457Ala)
c.1388A>C (p.Asp463Ala)
c.1145A>C (p.Asp382Ala)
c.1178A>C (p.Asp393Ala)
c.1196A>C (p.Asp399Ala)
2g.127428762A>GCA348406235PROCc.1202A>G (p.Asp401Gly)
c.526A>G
c.1304A>G (p.Asp435Gly)
c.1385A>G (p.Asp462Gly)
c.1367A>G (p.Asp456Gly)
c.1265A>G (p.Asp422Gly)
n.1332-498T>C
c.1445A>G (p.Asp482Gly)
c.1547A>G (p.Asp516Gly)
c.1487A>G (p.Asp496Gly)
n.3607-498T>C
n.4043-498T>C
c.1370A>G (p.Asp457Gly)
c.1388A>G (p.Asp463Gly)
c.1145A>G (p.Asp382Gly)
c.1178A>G (p.Asp393Gly)
c.1196A>G (p.Asp399Gly)
2g.127428762A>TCA348406237PROCc.1202A>T (p.Asp401Val)
c.526A>T
c.1304A>T (p.Asp435Val)
c.1385A>T (p.Asp462Val)
c.1367A>T (p.Asp456Val)
c.1265A>T (p.Asp422Val)
n.1332-498T>A
c.1445A>T (p.Asp482Val)
c.1547A>T (p.Asp516Val)
c.1487A>T (p.Asp496Val)
n.3607-498T>A
n.4043-498T>A
c.1370A>T (p.Asp457Val)
c.1388A>T (p.Asp463Val)
c.1145A>T (p.Asp382Val)
c.1178A>T (p.Asp393Val)
c.1196A>T (p.Asp399Val)
2g.127428763C>ACA348406239PROCc.1203C>A (p.Asp401Glu)
c.527C>A
c.1305C>A (p.Asp435Glu)
c.1386C>A (p.Asp462Glu)
c.1368C>A (p.Asp456Glu)
c.1266C>A (p.Asp422Glu)
n.1332-499G>T
c.1446C>A (p.Asp482Glu)
c.1548C>A (p.Asp516Glu)
c.1488C>A (p.Asp496Glu)
n.3607-499G>T
n.4043-499G>T
c.1371C>A (p.Asp457Glu)
c.1389C>A (p.Asp463Glu)
c.1146C>A (p.Asp382Glu)
c.1179C>A (p.Asp393Glu)
c.1197C>A (p.Asp399Glu)
 gnomAD v4
2g.127428763C>GCA348406241PROCc.1203C>G (p.Asp401Glu)
c.527C>G
c.1305C>G (p.Asp435Glu)
c.1386C>G (p.Asp462Glu)
c.1368C>G (p.Asp456Glu)
c.1266C>G (p.Asp422Glu)
n.1332-499G>C
c.1446C>G (p.Asp482Glu)
c.1548C>G (p.Asp516Glu)
c.1488C>G (p.Asp496Glu)
n.3607-499G>C
n.4043-499G>C
c.1371C>G (p.Asp457Glu)
c.1389C>G (p.Asp463Glu)
c.1146C>G (p.Asp382Glu)
c.1179C>G (p.Asp393Glu)
c.1197C>G (p.Asp399Glu)
2g.127428763C>TCA428872417PROCc.1203C>T (p.Asp401=)
c.527C>T
c.1305C>T (p.Asp435=)
c.1386C>T (p.Asp462=)
c.1368C>T (p.Asp456=)
c.1266C>T (p.Asp422=)
n.1332-499G>A
c.1446C>T (p.Asp482=)
c.1548C>T (p.Asp516=)
c.1488C>T (p.Asp496=)
n.3607-499G>A
n.4043-499G>A
c.1371C>T (p.Asp457=)
c.1389C>T (p.Asp463=)
c.1146C>T (p.Asp382=)
c.1179C>T (p.Asp393=)
c.1197C>T (p.Asp399=)
 gnomAD v4
2g.127428764A>CCA348406244PROCc.1204A>C (p.Ser402Arg)
c.528A>C
c.1306A>C (p.Ser436Arg)
c.1387A>C (p.Ser463Arg)
c.1369A>C (p.Ser457Arg)
c.1267A>C (p.Ser423Arg)
n.1332-500T>G
c.1447A>C (p.Ser483Arg)
c.1549A>C (p.Ser517Arg)
c.1489A>C (p.Ser497Arg)
n.3607-500T>G
n.4043-500T>G
c.1372A>C (p.Ser458Arg)
c.1390A>C (p.Ser464Arg)
c.1147A>C (p.Ser383Arg)
c.1180A>C (p.Ser394Arg)
c.1198A>C (p.Ser400Arg)
2g.127428764A>GCA348406245PROCc.1204A>G (p.Ser402Gly)
c.528A>G
c.1306A>G (p.Ser436Gly)
c.1387A>G (p.Ser463Gly)
c.1369A>G (p.Ser457Gly)
c.1267A>G (p.Ser423Gly)
n.1332-500T>C
c.1447A>G (p.Ser483Gly)
c.1549A>G (p.Ser517Gly)
c.1489A>G (p.Ser497Gly)
n.3607-500T>C
n.4043-500T>C
c.1372A>G (p.Ser458Gly)
c.1390A>G (p.Ser464Gly)
c.1147A>G (p.Ser383Gly)
c.1180A>G (p.Ser394Gly)
c.1198A>G (p.Ser400Gly)
2g.127428764A>TCA348406246PROCc.1204A>T (p.Ser402Cys)
c.528A>T
c.1306A>T (p.Ser436Cys)
c.1387A>T (p.Ser463Cys)
c.1369A>T (p.Ser457Cys)
c.1267A>T (p.Ser423Cys)
n.1332-500T>A
c.1447A>T (p.Ser483Cys)
c.1549A>T (p.Ser517Cys)
c.1489A>T (p.Ser497Cys)
n.3607-500T>A
n.4043-500T>A
c.1372A>T (p.Ser458Cys)
c.1390A>T (p.Ser464Cys)
c.1147A>T (p.Ser383Cys)
c.1180A>T (p.Ser394Cys)
c.1198A>T (p.Ser400Cys)
2g.127428765G>ACA348406249PROCc.1205G>A (p.Ser402Asn)
c.529G>A
c.1307G>A (p.Ser436Asn)
c.1388G>A (p.Ser463Asn)
c.1370G>A (p.Ser457Asn)
c.1268G>A (p.Ser423Asn)
n.1332-501C>T
c.1448G>A (p.Ser483Asn)
c.1550G>A (p.Ser517Asn)
c.1490G>A (p.Ser497Asn)
n.3607-501C>T
n.4043-501C>T
c.1373G>A (p.Ser458Asn)
c.1391G>A (p.Ser464Asn)
c.1148G>A (p.Ser383Asn)
c.1181G>A (p.Ser394Asn)
c.1199G>A (p.Ser400Asn)
2g.127428765G>CCA348406250PROCc.1205G>C (p.Ser402Thr)
c.529G>C
c.1307G>C (p.Ser436Thr)
c.1388G>C (p.Ser463Thr)
c.1370G>C (p.Ser457Thr)
c.1268G>C (p.Ser423Thr)
n.1332-501C>G
c.1448G>C (p.Ser483Thr)
c.1550G>C (p.Ser517Thr)
c.1490G>C (p.Ser497Thr)
n.3607-501C>G
n.4043-501C>G
c.1373G>C (p.Ser458Thr)
c.1391G>C (p.Ser464Thr)
c.1148G>C (p.Ser383Thr)
c.1181G>C (p.Ser394Thr)
c.1199G>C (p.Ser400Thr)
2g.127428765G>TCA348406252PROCc.1205G>T (p.Ser402Ile)
c.529G>T
c.1307G>T (p.Ser436Ile)
c.1388G>T (p.Ser463Ile)
c.1370G>T (p.Ser457Ile)
c.1268G>T (p.Ser423Ile)
n.1332-501C>A
c.1448G>T (p.Ser483Ile)
c.1550G>T (p.Ser517Ile)
c.1490G>T (p.Ser497Ile)
n.3607-501C>A
n.4043-501C>A
c.1373G>T (p.Ser458Ile)
c.1391G>T (p.Ser464Ile)
c.1148G>T (p.Ser383Ile)
c.1181G>T (p.Ser394Ile)
c.1199G>T (p.Ser400Ile)
2g.127428766T>ACA348406254PROCc.1206T>A (p.Ser402Arg)
c.530T>A
c.1308T>A (p.Ser436Arg)
c.1389T>A (p.Ser463Arg)
c.1371T>A (p.Ser457Arg)
c.1269T>A (p.Ser423Arg)
n.1332-502A>T
c.1449T>A (p.Ser483Arg)
c.1551T>A (p.Ser517Arg)
c.1491T>A (p.Ser497Arg)
n.3607-502A>T
n.4043-502A>T
c.1374T>A (p.Ser458Arg)
c.1392T>A (p.Ser464Arg)
c.1149T>A (p.Ser383Arg)
c.1182T>A (p.Ser394Arg)
c.1200T>A (p.Ser400Arg)
2g.127428766T>CCA428872428PROCc.1206T>C (p.Ser402=)
c.530T>C
c.1308T>C (p.Ser436=)
c.1389T>C (p.Ser463=)
c.1371T>C (p.Ser457=)
c.1269T>C (p.Ser423=)
n.1332-502A>G
c.1449T>C (p.Ser483=)
c.1551T>C (p.Ser517=)
c.1491T>C (p.Ser497=)
n.3607-502A>G
n.4043-502A>G
c.1374T>C (p.Ser458=)
c.1392T>C (p.Ser464=)
c.1149T>C (p.Ser383=)
c.1182T>C (p.Ser394=)
c.1200T>C (p.Ser400=)
 dbSNP
2g.127428766T>GCA348406256PROCc.1206T>G (p.Ser402Arg)
c.530T>G
c.1308T>G (p.Ser436Arg)
c.1389T>G (p.Ser463Arg)
c.1371T>G (p.Ser457Arg)
c.1269T>G (p.Ser423Arg)
n.1332-502A>C
c.1449T>G (p.Ser483Arg)
c.1551T>G (p.Ser517Arg)
c.1491T>G (p.Ser497Arg)
n.3607-502A>C
n.4043-502A>C
c.1374T>G (p.Ser458Arg)
c.1392T>G (p.Ser464Arg)
c.1149T>G (p.Ser383Arg)
c.1182T>G (p.Ser394Arg)
c.1200T>G (p.Ser400Arg)
2g.127428766T=CA1286884637PROCc.1206T= (p.Ser402=)
c.530T=
c.1308T= (p.Ser436=)
c.1389T= (p.Ser463=)
c.1371T= (p.Ser457=)
c.1269T= (p.Ser423=)
n.1332-502A=
c.1449T= (p.Ser483=)
c.1551T= (p.Ser517=)
c.1491T= (p.Ser497=)
n.3607-502A=
n.4043-502A=
c.1374T= (p.Ser458=)
c.1392T= (p.Ser464=)
c.1149T= (p.Ser383=)
c.1182T= (p.Ser394=)
c.1200T= (p.Ser400=)
2g.127428767G>ACA348406260PROCc.1207G>A (p.Gly403Arg)
c.531G>A
c.1309G>A (p.Gly437Arg)
c.1390G>A (p.Gly464Arg)
c.1372G>A (p.Gly458Arg)
c.1270G>A (p.Gly424Arg)
n.1332-503C>T
c.1450G>A (p.Gly484Arg)
c.1552G>A (p.Gly518Arg)
c.1492G>A (p.Gly498Arg)
n.3607-503C>T
n.4043-503C>T
c.1375G>A (p.Gly459Arg)
c.1393G>A (p.Gly465Arg)
c.1150G>A (p.Gly384Arg)
c.1183G>A (p.Gly395Arg)
c.1201G>A (p.Gly401Arg)
 ClinVar
2g.127428767G>CCA348406262PROCc.1207G>C (p.Gly403Arg)
c.531G>C
c.1309G>C (p.Gly437Arg)
c.1390G>C (p.Gly464Arg)
c.1372G>C (p.Gly458Arg)
c.1270G>C (p.Gly424Arg)
n.1332-503C>G
c.1450G>C (p.Gly484Arg)
c.1552G>C (p.Gly518Arg)
c.1492G>C (p.Gly498Arg)
n.3607-503C>G
n.4043-503C>G
c.1375G>C (p.Gly459Arg)
c.1393G>C (p.Gly465Arg)
c.1150G>C (p.Gly384Arg)
c.1183G>C (p.Gly395Arg)
c.1201G>C (p.Gly401Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.127428767G=CA1286884638PROCc.1207G= (p.Gly403=)
c.531G=
c.1309G= (p.Gly437=)
c.1390G= (p.Gly464=)
c.1372G= (p.Gly458=)
c.1270G= (p.Gly424=)
n.1332-503C=
c.1450G= (p.Gly484=)
c.1552G= (p.Gly518=)
c.1492G= (p.Gly498=)
n.3607-503C=
n.4043-503C=
c.1375G= (p.Gly459=)
c.1393G= (p.Gly465=)
c.1150G= (p.Gly384=)
c.1183G= (p.Gly395=)
c.1201G= (p.Gly401=)
2g.127428767G>TCA348406258PROCc.1207G>T (p.Gly403Trp)
c.531G>T
c.1309G>T (p.Gly437Trp)
c.1390G>T (p.Gly464Trp)
c.1372G>T (p.Gly458Trp)
c.1270G>T (p.Gly424Trp)
n.1332-503C>A
c.1450G>T (p.Gly484Trp)
c.1552G>T (p.Gly518Trp)
c.1492G>T (p.Gly498Trp)
n.3607-503C>A
n.4043-503C>A
c.1375G>T (p.Gly459Trp)
c.1393G>T (p.Gly465Trp)
c.1150G>T (p.Gly384Trp)
c.1183G>T (p.Gly395Trp)
c.1201G>T (p.Gly401Trp)
2g.127428772dupCA16610244PROCc.1212dup (p.Pro405AlafsTer20)
c.536dup
c.1314dup (p.Pro439AlafsTer20)
c.1395dup (p.Pro466AlafsTer20)
c.1377dup (p.Pro460AlafsTer20)
c.1275dup (p.Pro426AlafsTer20)
n.1332-503dup
c.1455dup (p.Pro486AlafsTer20)
c.1557dup (p.Pro520AlafsTer20)
c.1497dup (p.Pro500AlafsTer20)
n.3607-503dup
n.4043-503dup
c.1380dup (p.Pro461AlafsTer20)
c.1398dup (p.Pro467AlafsTer20)
c.1155dup (p.Pro386AlafsTer20)
c.1188dup (p.Pro397AlafsTer20)
c.1206dup (p.Pro403AlafsTer20)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.127428772delCA645516639PROCc.1212del (p.Met406TrpfsTer15)
c.536del
c.1314del (p.Met440TrpfsTer15)
c.1395del (p.Met467TrpfsTer15)
c.1377del (p.Met461TrpfsTer15)
c.1275del (p.Met427TrpfsTer15)
n.1332-503del
c.1455del (p.Met487TrpfsTer15)
c.1557del (p.Met521TrpfsTer15)
c.1497del (p.Met501TrpfsTer15)
n.3607-503del
n.4043-503del
c.1380del (p.Met462TrpfsTer15)
c.1398del (p.Met468TrpfsTer15)
c.1155del (p.Met387TrpfsTer15)
c.1188del (p.Met398TrpfsTer15)
c.1206del (p.Met404TrpfsTer15)
 COSMIC
2g.127428771_127428772delCA2586969922PROCc.1211_1212del (p.Gly404AlafsTer20)
c.535_536del
c.1313_1314del (p.Gly438AlafsTer20)
c.1394_1395del (p.Gly465AlafsTer20)
c.1376_1377del (p.Gly459AlafsTer20)
c.1274_1275del (p.Gly425AlafsTer20)
n.1332-504_1332-503del
c.1454_1455del (p.Gly485AlafsTer20)
c.1556_1557del (p.Gly519AlafsTer20)
c.1496_1497del (p.Gly499AlafsTer20)
n.3607-504_3607-503del
n.4043-504_4043-503del
c.1379_1380del (p.Gly460AlafsTer20)
c.1397_1398del (p.Gly466AlafsTer20)
c.1154_1155del (p.Gly385AlafsTer20)
c.1187_1188del (p.Gly396AlafsTer20)
c.1205_1206del (p.Gly402AlafsTer20)
2g.127428768G>ACA348406264PROCc.1208G>A (p.Gly403Glu)
c.532G>A
c.1310G>A (p.Gly437Glu)
c.1391G>A (p.Gly464Glu)
c.1373G>A (p.Gly458Glu)
c.1271G>A (p.Gly424Glu)
n.1332-504C>T
c.1451G>A (p.Gly484Glu)
c.1553G>A (p.Gly518Glu)
c.1493G>A (p.Gly498Glu)
n.3607-504C>T
n.4043-504C>T
c.1376G>A (p.Gly459Glu)
c.1394G>A (p.Gly465Glu)
c.1151G>A (p.Gly384Glu)
c.1184G>A (p.Gly395Glu)
c.1202G>A (p.Gly401Glu)
2g.127428768G>CCA348406265PROCc.1208G>C (p.Gly403Ala)
c.532G>C
c.1310G>C (p.Gly437Ala)
c.1391G>C (p.Gly464Ala)
c.1373G>C (p.Gly458Ala)
c.1271G>C (p.Gly424Ala)
n.1332-504C>G
c.1451G>C (p.Gly484Ala)
c.1553G>C (p.Gly518Ala)
c.1493G>C (p.Gly498Ala)
n.3607-504C>G
n.4043-504C>G
c.1376G>C (p.Gly459Ala)
c.1394G>C (p.Gly465Ala)
c.1151G>C (p.Gly384Ala)
c.1184G>C (p.Gly395Ala)
c.1202G>C (p.Gly401Ala)
2g.127428768G>TCA348406267PROCc.1208G>T (p.Gly403Val)
c.532G>T
c.1310G>T (p.Gly437Val)
c.1391G>T (p.Gly464Val)
c.1373G>T (p.Gly458Val)
c.1271G>T (p.Gly424Val)
n.1332-504C>A
c.1451G>T (p.Gly484Val)
c.1553G>T (p.Gly518Val)
c.1493G>T (p.Gly498Val)
n.3607-504C>A
n.4043-504C>A
c.1376G>T (p.Gly459Val)
c.1394G>T (p.Gly465Val)
c.1151G>T (p.Gly384Val)
c.1184G>T (p.Gly395Val)
c.1202G>T (p.Gly401Val)
 gnomAD v4
2g.127428769G>ACA428872454PROCc.1209G>A (p.Gly403=)
c.533G>A
c.1311G>A (p.Gly437=)
c.1392G>A (p.Gly464=)
c.1374G>A (p.Gly458=)
c.1272G>A (p.Gly424=)
n.1332-505C>T
c.1452G>A (p.Gly484=)
c.1554G>A (p.Gly518=)
c.1494G>A (p.Gly498=)
n.3607-505C>T
n.4043-505C>T
c.1377G>A (p.Gly459=)
c.1395G>A (p.Gly465=)
c.1152G>A (p.Gly384=)
c.1185G>A (p.Gly395=)
c.1203G>A (p.Gly401=)
 gnomAD v4
2g.127428769G>CCA428872451PROCc.1209G>C (p.Gly403=)
c.533G>C
c.1311G>C (p.Gly437=)
c.1392G>C (p.Gly464=)
c.1374G>C (p.Gly458=)
c.1272G>C (p.Gly424=)
n.1332-505C>G
c.1452G>C (p.Gly484=)
c.1554G>C (p.Gly518=)
c.1494G>C (p.Gly498=)
n.3607-505C>G
n.4043-505C>G
c.1377G>C (p.Gly459=)
c.1395G>C (p.Gly465=)
c.1152G>C (p.Gly384=)
c.1185G>C (p.Gly395=)
c.1203G>C (p.Gly401=)
2g.127428769G>TCA428872448PROCc.1209G>T (p.Gly403=)
c.533G>T
c.1311G>T (p.Gly437=)
c.1392G>T (p.Gly464=)
c.1374G>T (p.Gly458=)
c.1272G>T (p.Gly424=)
n.1332-505C>A
c.1452G>T (p.Gly484=)
c.1554G>T (p.Gly518=)
c.1494G>T (p.Gly498=)
n.3607-505C>A
n.4043-505C>A
c.1377G>T (p.Gly459=)
c.1395G>T (p.Gly465=)
c.1152G>T (p.Gly384=)
c.1185G>T (p.Gly395=)
c.1203G>T (p.Gly401=)
2g.127428770G>ACA348406270PROCc.1210G>A (p.Gly404Arg)
c.534G>A
c.1312G>A (p.Gly438Arg)
c.1393G>A (p.Gly465Arg)
c.1375G>A (p.Gly459Arg)
c.1273G>A (p.Gly425Arg)
n.1332-506C>T
c.1453G>A (p.Gly485Arg)
c.1555G>A (p.Gly519Arg)
c.1495G>A (p.Gly499Arg)
n.3607-506C>T
n.4043-506C>T
c.1378G>A (p.Gly460Arg)
c.1396G>A (p.Gly466Arg)
c.1153G>A (p.Gly385Arg)
c.1186G>A (p.Gly396Arg)
c.1204G>A (p.Gly402Arg)
2g.127428770G>CCA348406271PROCc.1210G>C (p.Gly404Arg)
c.534G>C
c.1312G>C (p.Gly438Arg)
c.1393G>C (p.Gly465Arg)
c.1375G>C (p.Gly459Arg)
c.1273G>C (p.Gly425Arg)
n.1332-506C>G
c.1453G>C (p.Gly485Arg)
c.1555G>C (p.Gly519Arg)
c.1495G>C (p.Gly499Arg)
n.3607-506C>G
n.4043-506C>G
c.1378G>C (p.Gly460Arg)
c.1396G>C (p.Gly466Arg)
c.1153G>C (p.Gly385Arg)
c.1186G>C (p.Gly396Arg)
c.1204G>C (p.Gly402Arg)
2g.127428770G>TCA348406273PROCc.1210G>T (p.Gly404Trp)
c.534G>T
c.1312G>T (p.Gly438Trp)
c.1393G>T (p.Gly465Trp)
c.1375G>T (p.Gly459Trp)
c.1273G>T (p.Gly425Trp)
n.1332-506C>A
c.1453G>T (p.Gly485Trp)
c.1555G>T (p.Gly519Trp)
c.1495G>T (p.Gly499Trp)
n.3607-506C>A
n.4043-506C>A
c.1378G>T (p.Gly460Trp)
c.1396G>T (p.Gly466Trp)
c.1153G>T (p.Gly385Trp)
c.1186G>T (p.Gly396Trp)
c.1204G>T (p.Gly402Trp)
2g.127428771G>ACA348406275PROCc.1211G>A (p.Gly404Glu)
c.535G>A
c.1313G>A (p.Gly438Glu)
c.1394G>A (p.Gly465Glu)
c.1376G>A (p.Gly459Glu)
c.1274G>A (p.Gly425Glu)
n.1332-507C>T
c.1454G>A (p.Gly485Glu)
c.1556G>A (p.Gly519Glu)
c.1496G>A (p.Gly499Glu)
n.3607-507C>T
n.4043-507C>T
c.1379G>A (p.Gly460Glu)
c.1397G>A (p.Gly466Glu)
c.1154G>A (p.Gly385Glu)
c.1187G>A (p.Gly396Glu)
c.1205G>A (p.Gly402Glu)
 gnomAD v4
2g.127428771G>CCA348406277PROCc.1211G>C (p.Gly404Ala)
c.535G>C
c.1313G>C (p.Gly438Ala)
c.1394G>C (p.Gly465Ala)
c.1376G>C (p.Gly459Ala)
c.1274G>C (p.Gly425Ala)
n.1332-507C>G
c.1454G>C (p.Gly485Ala)
c.1556G>C (p.Gly519Ala)
c.1496G>C (p.Gly499Ala)
n.3607-507C>G
n.4043-507C>G
c.1379G>C (p.Gly460Ala)
c.1397G>C (p.Gly466Ala)
c.1154G>C (p.Gly385Ala)
c.1187G>C (p.Gly396Ala)
c.1205G>C (p.Gly402Ala)
2g.127428771G>TCA348406276PROCc.1211G>T (p.Gly404Val)
c.535G>T
c.1313G>T (p.Gly438Val)
c.1394G>T (p.Gly465Val)
c.1376G>T (p.Gly459Val)
c.1274G>T (p.Gly425Val)
n.1332-507C>A
c.1454G>T (p.Gly485Val)
c.1556G>T (p.Gly519Val)
c.1496G>T (p.Gly499Val)
n.3607-507C>A
n.4043-507C>A
c.1379G>T (p.Gly460Val)
c.1397G>T (p.Gly466Val)
c.1154G>T (p.Gly385Val)
c.1187G>T (p.Gly396Val)
c.1205G>T (p.Gly402Val)
2g.127428772G>ACA1859546PROCc.1212G>A (p.Gly404=)
c.536G>A
c.1314G>A (p.Gly438=)
c.1395G>A (p.Gly465=)
c.1377G>A (p.Gly459=)
c.1275G>A (p.Gly425=)
n.1332-508C>T
c.1455G>A (p.Gly485=)
c.1557G>A (p.Gly519=)
c.1497G>A (p.Gly499=)
n.3607-508C>T
n.4043-508C>T
c.1380G>A (p.Gly460=)
c.1398G>A (p.Gly466=)
c.1155G>A (p.Gly385=)
c.1188G>A (p.Gly396=)
c.1206G>A (p.Gly402=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428772G>CCA428872473PROCc.1212G>C (p.Gly404=)
c.536G>C
c.1314G>C (p.Gly438=)
c.1395G>C (p.Gly465=)
c.1377G>C (p.Gly459=)
c.1275G>C (p.Gly425=)
n.1332-508C>G
c.1455G>C (p.Gly485=)
c.1557G>C (p.Gly519=)
c.1497G>C (p.Gly499=)
n.3607-508C>G
n.4043-508C>G
c.1380G>C (p.Gly460=)
c.1398G>C (p.Gly466=)
c.1155G>C (p.Gly385=)
c.1188G>C (p.Gly396=)
c.1206G>C (p.Gly402=)
2g.127428772G=CA1286884639PROCc.1212G= (p.Gly404=)
c.536G=
c.1314G= (p.Gly438=)
c.1395G= (p.Gly465=)
c.1377G= (p.Gly459=)
c.1275G= (p.Gly425=)
n.1332-508C=
c.1455G= (p.Gly485=)
c.1557G= (p.Gly519=)
c.1497G= (p.Gly499=)
n.3607-508C=
n.4043-508C=
c.1380G= (p.Gly460=)
c.1398G= (p.Gly466=)
c.1155G= (p.Gly385=)
c.1188G= (p.Gly396=)
c.1206G= (p.Gly402=)
2g.127428772G>TCA428872471PROCc.1212G>T (p.Gly404=)
c.536G>T
c.1314G>T (p.Gly438=)
c.1395G>T (p.Gly465=)
c.1377G>T (p.Gly459=)
c.1275G>T (p.Gly425=)
n.1332-508C>A
c.1455G>T (p.Gly485=)
c.1557G>T (p.Gly519=)
c.1497G>T (p.Gly499=)
n.3607-508C>A
n.4043-508C>A
c.1380G>T (p.Gly460=)
c.1398G>T (p.Gly466=)
c.1155G>T (p.Gly385=)
c.1188G>T (p.Gly396=)
c.1206G>T (p.Gly402=)
2g.127428773C>ACA348406279PROCc.1213C>A (p.Pro405Thr)
c.537C>A
c.1315C>A (p.Pro439Thr)
c.1396C>A (p.Pro466Thr)
c.1378C>A (p.Pro460Thr)
c.1276C>A (p.Pro426Thr)
n.1332-509G>T
c.1456C>A (p.Pro486Thr)
c.1558C>A (p.Pro520Thr)
c.1498C>A (p.Pro500Thr)
n.3607-509G>T
n.4043-509G>T
c.1381C>A (p.Pro461Thr)
c.1399C>A (p.Pro467Thr)
c.1156C>A (p.Pro386Thr)
c.1189C>A (p.Pro397Thr)
c.1207C>A (p.Pro403Thr)
2g.127428773C=CA1286884640PROCc.1213C= (p.Pro405=)
c.537C=
c.1315C= (p.Pro439=)
c.1396C= (p.Pro466=)
c.1378C= (p.Pro460=)
c.1276C= (p.Pro426=)
n.1332-509G=
c.1456C= (p.Pro486=)
c.1558C= (p.Pro520=)
c.1498C= (p.Pro500=)
n.3607-509G=
n.4043-509G=
c.1381C= (p.Pro461=)
c.1399C= (p.Pro467=)
c.1156C= (p.Pro386=)
c.1189C= (p.Pro397=)
c.1207C= (p.Pro403=)
2g.127428773C>GCA348406280PROCc.1213C>G (p.Pro405Ala)
c.537C>G
c.1315C>G (p.Pro439Ala)
c.1396C>G (p.Pro466Ala)
c.1378C>G (p.Pro460Ala)
c.1276C>G (p.Pro426Ala)
n.1332-509G>C
c.1456C>G (p.Pro486Ala)
c.1558C>G (p.Pro520Ala)
c.1498C>G (p.Pro500Ala)
n.3607-509G>C
n.4043-509G>C
c.1381C>G (p.Pro461Ala)
c.1399C>G (p.Pro467Ala)
c.1156C>G (p.Pro386Ala)
c.1189C>G (p.Pro397Ala)
c.1207C>G (p.Pro403Ala)
 dbSNP
2g.127428773C>TCA348406282PROCc.1213C>T (p.Pro405Ser)
c.537C>T
c.1315C>T (p.Pro439Ser)
c.1396C>T (p.Pro466Ser)
c.1378C>T (p.Pro460Ser)
c.1276C>T (p.Pro426Ser)
n.1332-509G>A
c.1456C>T (p.Pro486Ser)
c.1558C>T (p.Pro520Ser)
c.1498C>T (p.Pro500Ser)
n.3607-509G>A
n.4043-509G>A
c.1381C>T (p.Pro461Ser)
c.1399C>T (p.Pro467Ser)
c.1156C>T (p.Pro386Ser)
c.1189C>T (p.Pro397Ser)
c.1207C>T (p.Pro403Ser)
 ClinVar dbSNP gnomAD v4
2g.127428775delCA2586969923PROCc.1215del (p.Met406TrpfsTer15)
c.539del
c.1317del (p.Met440TrpfsTer15)
c.1398del (p.Met467TrpfsTer15)
c.1380del (p.Met461TrpfsTer15)
c.1278del (p.Met427TrpfsTer15)
n.1332-509del
c.1458del (p.Met487TrpfsTer15)
c.1560del (p.Met521TrpfsTer15)
c.1500del (p.Met501TrpfsTer15)
n.3607-509del
n.4043-509del
c.1383del (p.Met462TrpfsTer15)
c.1401del (p.Met468TrpfsTer15)
c.1158del (p.Met387TrpfsTer15)
c.1191del (p.Met398TrpfsTer15)
c.1209del (p.Met404TrpfsTer15)
2g.127428774C>ACA348406284PROCc.1214C>A (p.Pro405His)
c.538C>A
c.1316C>A (p.Pro439His)
c.1397C>A (p.Pro466His)
c.1379C>A (p.Pro460His)
c.1277C>A (p.Pro426His)
n.1332-510G>T
c.1457C>A (p.Pro486His)
c.1559C>A (p.Pro520His)
c.1499C>A (p.Pro500His)
n.3607-510G>T
n.4043-510G>T
c.1382C>A (p.Pro461His)
c.1400C>A (p.Pro467His)
c.1157C>A (p.Pro386His)
c.1190C>A (p.Pro397His)
c.1208C>A (p.Pro403His)
2g.127428774C>GCA348406287PROCc.1214C>G (p.Pro405Arg)
c.538C>G
c.1316C>G (p.Pro439Arg)
c.1397C>G (p.Pro466Arg)
c.1379C>G (p.Pro460Arg)
c.1277C>G (p.Pro426Arg)
n.1332-510G>C
c.1457C>G (p.Pro486Arg)
c.1559C>G (p.Pro520Arg)
c.1499C>G (p.Pro500Arg)
n.3607-510G>C
n.4043-510G>C
c.1382C>G (p.Pro461Arg)
c.1400C>G (p.Pro467Arg)
c.1157C>G (p.Pro386Arg)
c.1190C>G (p.Pro397Arg)
c.1208C>G (p.Pro403Arg)
2g.127428774C>TCA348406286PROCc.1214C>T (p.Pro405Leu)
c.538C>T
c.1316C>T (p.Pro439Leu)
c.1397C>T (p.Pro466Leu)
c.1379C>T (p.Pro460Leu)
c.1277C>T (p.Pro426Leu)
n.1332-510G>A
c.1457C>T (p.Pro486Leu)
c.1559C>T (p.Pro520Leu)
c.1499C>T (p.Pro500Leu)
n.3607-510G>A
n.4043-510G>A
c.1382C>T (p.Pro461Leu)
c.1400C>T (p.Pro467Leu)
c.1157C>T (p.Pro386Leu)
c.1190C>T (p.Pro397Leu)
c.1208C>T (p.Pro403Leu)
2g.127428775C>ACA428872493PROCc.1215C>A (p.Pro405=)
c.539C>A
c.1317C>A (p.Pro439=)
c.1398C>A (p.Pro466=)
c.1380C>A (p.Pro460=)
c.1278C>A (p.Pro426=)
n.1332-511G>T
c.1458C>A (p.Pro486=)
c.1560C>A (p.Pro520=)
c.1500C>A (p.Pro500=)
n.3607-511G>T
n.4043-511G>T
c.1383C>A (p.Pro461=)
c.1401C>A (p.Pro467=)
c.1158C>A (p.Pro386=)
c.1191C>A (p.Pro397=)
c.1209C>A (p.Pro403=)
2g.127428775C=CA1286884641PROCc.1215C= (p.Pro405=)
c.539C=
c.1317C= (p.Pro439=)
c.1398C= (p.Pro466=)
c.1380C= (p.Pro460=)
c.1278C= (p.Pro426=)
n.1332-511G=
c.1458C= (p.Pro486=)
c.1560C= (p.Pro520=)
c.1500C= (p.Pro500=)
n.3607-511G=
n.4043-511G=
c.1383C= (p.Pro461=)
c.1401C= (p.Pro467=)
c.1158C= (p.Pro386=)
c.1191C= (p.Pro397=)
c.1209C= (p.Pro403=)
2g.127428775C>GCA428872495PROCc.1215C>G (p.Pro405=)
c.539C>G
c.1317C>G (p.Pro439=)
c.1398C>G (p.Pro466=)
c.1380C>G (p.Pro460=)
c.1278C>G (p.Pro426=)
n.1332-511G>C
c.1458C>G (p.Pro486=)
c.1560C>G (p.Pro520=)
c.1500C>G (p.Pro500=)
n.3607-511G>C
n.4043-511G>C
c.1383C>G (p.Pro461=)
c.1401C>G (p.Pro467=)
c.1158C>G (p.Pro386=)
c.1191C>G (p.Pro397=)
c.1209C>G (p.Pro403=)
 dbSNP
2g.127428775C>TCA428872496PROCc.1215C>T (p.Pro405=)
c.539C>T
c.1317C>T (p.Pro439=)
c.1398C>T (p.Pro466=)
c.1380C>T (p.Pro460=)
c.1278C>T (p.Pro426=)
n.1332-511G>A
c.1458C>T (p.Pro486=)
c.1560C>T (p.Pro520=)
c.1500C>T (p.Pro500=)
n.3607-511G>A
n.4043-511G>A
c.1383C>T (p.Pro461=)
c.1401C>T (p.Pro467=)
c.1158C>T (p.Pro386=)
c.1191C>T (p.Pro397=)
c.1209C>T (p.Pro403=)
 dbSNP gnomAD v2 gnomAD v4
2g.127428776A=CA1286884642PROCc.1216A= (p.Met406=)
c.540A=
c.1318A= (p.Met440=)
c.1399A= (p.Met467=)
c.1381A= (p.Met461=)
c.1279A= (p.Met427=)
n.1332-512T=
c.1459A= (p.Met487=)
c.1561A= (p.Met521=)
c.1501A= (p.Met501=)
n.3607-512T=
n.4043-512T=
c.1384A= (p.Met462=)
c.1402A= (p.Met468=)
c.1159A= (p.Met387=)
c.1192A= (p.Met398=)
c.1210A= (p.Met404=)
2g.127428776A>CCA348406290PROCc.1216A>C (p.Met406Leu)
c.540A>C
c.1318A>C (p.Met440Leu)
c.1399A>C (p.Met467Leu)
c.1381A>C (p.Met461Leu)
c.1279A>C (p.Met427Leu)
n.1332-512T>G
c.1459A>C (p.Met487Leu)
c.1561A>C (p.Met521Leu)
c.1501A>C (p.Met501Leu)
n.3607-512T>G
n.4043-512T>G
c.1384A>C (p.Met462Leu)
c.1402A>C (p.Met468Leu)
c.1159A>C (p.Met387Leu)
c.1192A>C (p.Met398Leu)
c.1210A>C (p.Met404Leu)
 dbSNP
2g.127428776A>GCA348406293PROCc.1216A>G (p.Met406Val)
c.540A>G
c.1318A>G (p.Met440Val)
c.1399A>G (p.Met467Val)
c.1381A>G (p.Met461Val)
c.1279A>G (p.Met427Val)
n.1332-512T>C
c.1459A>G (p.Met487Val)
c.1561A>G (p.Met521Val)
c.1501A>G (p.Met501Val)
n.3607-512T>C
n.4043-512T>C
c.1384A>G (p.Met462Val)
c.1402A>G (p.Met468Val)
c.1159A>G (p.Met387Val)
c.1192A>G (p.Met398Val)
c.1210A>G (p.Met404Val)
 ClinVar dbSNP COSMIC COSMIC
2g.127428776A>TCA348406292PROCc.1216A>T (p.Met406Leu)
c.540A>T
c.1318A>T (p.Met440Leu)
c.1399A>T (p.Met467Leu)
c.1381A>T (p.Met461Leu)
c.1279A>T (p.Met427Leu)
n.1332-512T>A
c.1459A>T (p.Met487Leu)
c.1561A>T (p.Met521Leu)
c.1501A>T (p.Met501Leu)
n.3607-512T>A
n.4043-512T>A
c.1384A>T (p.Met462Leu)
c.1402A>T (p.Met468Leu)
c.1159A>T (p.Met387Leu)
c.1192A>T (p.Met398Leu)
c.1210A>T (p.Met404Leu)
2g.127428777T>ACA1859547PROCc.1217T>A (p.Met406Lys)
c.541T>A
c.1319T>A (p.Met440Lys)
c.1400T>A (p.Met467Lys)
c.1382T>A (p.Met461Lys)
c.1280T>A (p.Met427Lys)
n.1332-513A>T
c.1460T>A (p.Met487Lys)
c.1562T>A (p.Met521Lys)
c.1502T>A (p.Met501Lys)
n.3607-513A>T
n.4043-513A>T
c.1385T>A (p.Met462Lys)
c.1403T>A (p.Met468Lys)
c.1160T>A (p.Met387Lys)
c.1193T>A (p.Met398Lys)
c.1211T>A (p.Met404Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428777T>CCA348406297PROCc.1217T>C (p.Met406Thr)
c.541T>C
c.1319T>C (p.Met440Thr)
c.1400T>C (p.Met467Thr)
c.1382T>C (p.Met461Thr)
c.1280T>C (p.Met427Thr)
n.1332-513A>G
c.1460T>C (p.Met487Thr)
c.1562T>C (p.Met521Thr)
c.1502T>C (p.Met501Thr)
n.3607-513A>G
n.4043-513A>G
c.1385T>C (p.Met462Thr)
c.1403T>C (p.Met468Thr)
c.1160T>C (p.Met387Thr)
c.1193T>C (p.Met398Thr)
c.1211T>C (p.Met404Thr)
 dbSNP gnomAD v4
2g.127428777T>GCA348406298PROCc.1217T>G (p.Met406Arg)
c.541T>G
c.1319T>G (p.Met440Arg)
c.1400T>G (p.Met467Arg)
c.1382T>G (p.Met461Arg)
c.1280T>G (p.Met427Arg)
n.1332-513A>C
c.1460T>G (p.Met487Arg)
c.1562T>G (p.Met521Arg)
c.1502T>G (p.Met501Arg)
n.3607-513A>C
n.4043-513A>C
c.1385T>G (p.Met462Arg)
c.1403T>G (p.Met468Arg)
c.1160T>G (p.Met387Arg)
c.1193T>G (p.Met398Arg)
c.1211T>G (p.Met404Arg)
2g.127428777T=CA1286884643PROCc.1217T= (p.Met406=)
c.541T=
c.1319T= (p.Met440=)
c.1400T= (p.Met467=)
c.1382T= (p.Met461=)
c.1280T= (p.Met427=)
n.1332-513A=
c.1460T= (p.Met487=)
c.1562T= (p.Met521=)
c.1502T= (p.Met501=)
n.3607-513A=
n.4043-513A=
c.1385T= (p.Met462=)
c.1403T= (p.Met468=)
c.1160T= (p.Met387=)
c.1193T= (p.Met398=)
c.1211T= (p.Met404=)
2g.127428778G>ACA1859548PROCc.1218G>A (p.Met406Ile)
c.542G>A
c.1320G>A (p.Met440Ile)
c.1401G>A (p.Met467Ile)
c.1383G>A (p.Met461Ile)
c.1281G>A (p.Met427Ile)
n.1332-514C>T
c.1461G>A (p.Met487Ile)
c.1563G>A (p.Met521Ile)
c.1503G>A (p.Met501Ile)
n.3607-514C>T
n.4043-514C>T
c.1386G>A (p.Met462Ile)
c.1404G>A (p.Met468Ile)
c.1161G>A (p.Met387Ile)
c.1194G>A (p.Met398Ile)
c.1212G>A (p.Met404Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428778G>CCA348406302PROCc.1218G>C (p.Met406Ile)
c.542G>C
c.1320G>C (p.Met440Ile)
c.1401G>C (p.Met467Ile)
c.1383G>C (p.Met461Ile)
c.1281G>C (p.Met427Ile)
n.1332-514C>G
c.1461G>C (p.Met487Ile)
c.1563G>C (p.Met521Ile)
c.1503G>C (p.Met501Ile)
n.3607-514C>G
n.4043-514C>G
c.1386G>C (p.Met462Ile)
c.1404G>C (p.Met468Ile)
c.1161G>C (p.Met387Ile)
c.1194G>C (p.Met398Ile)
c.1212G>C (p.Met404Ile)
2g.127428778G=CA1286884644PROCc.1218G= (p.Met406=)
c.542G=
c.1320G= (p.Met440=)
c.1401G= (p.Met467=)
c.1383G= (p.Met461=)
c.1281G= (p.Met427=)
n.1332-514C=
c.1461G= (p.Met487=)
c.1563G= (p.Met521=)
c.1503G= (p.Met501=)
n.3607-514C=
n.4043-514C=
c.1386G= (p.Met462=)
c.1404G= (p.Met468=)
c.1161G= (p.Met387=)
c.1194G= (p.Met398=)
c.1212G= (p.Met404=)
2g.127428778G>TCA348406304PROCc.1218G>T (p.Met406Ile)
c.542G>T
c.1320G>T (p.Met440Ile)
c.1401G>T (p.Met467Ile)
c.1383G>T (p.Met461Ile)
c.1281G>T (p.Met427Ile)
n.1332-514C>A
c.1461G>T (p.Met487Ile)
c.1563G>T (p.Met521Ile)
c.1503G>T (p.Met501Ile)
n.3607-514C>A
n.4043-514C>A
c.1386G>T (p.Met462Ile)
c.1404G>T (p.Met468Ile)
c.1161G>T (p.Met387Ile)
c.1194G>T (p.Met398Ile)
c.1212G>T (p.Met404Ile)
2g.127428779G>ACA348406306PROCc.1219G>A (p.Val407Ile)
c.543G>A
c.1321G>A (p.Val441Ile)
c.1402G>A (p.Val468Ile)
c.1384G>A (p.Val462Ile)
c.1282G>A (p.Val428Ile)
n.1332-515C>T
c.1462G>A (p.Val488Ile)
c.1564G>A (p.Val522Ile)
c.1504G>A (p.Val502Ile)
n.3607-515C>T
n.4043-515C>T
c.1387G>A (p.Val463Ile)
c.1405G>A (p.Val469Ile)
c.1162G>A (p.Val388Ile)
c.1195G>A (p.Val399Ile)
c.1213G>A (p.Val405Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.127428779G>CCA348406308PROCc.1219G>C (p.Val407Leu)
c.543G>C
c.1321G>C (p.Val441Leu)
c.1402G>C (p.Val468Leu)
c.1384G>C (p.Val462Leu)
c.1282G>C (p.Val428Leu)
n.1332-515C>G
c.1462G>C (p.Val488Leu)
c.1564G>C (p.Val522Leu)
c.1504G>C (p.Val502Leu)
n.3607-515C>G
n.4043-515C>G
c.1387G>C (p.Val463Leu)
c.1405G>C (p.Val469Leu)
c.1162G>C (p.Val388Leu)
c.1195G>C (p.Val399Leu)
c.1213G>C (p.Val405Leu)
2g.127428779G=CA1286884645PROCc.1219G= (p.Val407=)
c.543G=
c.1321G= (p.Val441=)
c.1402G= (p.Val468=)
c.1384G= (p.Val462=)
c.1282G= (p.Val428=)
n.1332-515C=
c.1462G= (p.Val488=)
c.1564G= (p.Val522=)
c.1504G= (p.Val502=)
n.3607-515C=
n.4043-515C=
c.1387G= (p.Val463=)
c.1405G= (p.Val469=)
c.1162G= (p.Val388=)
c.1195G= (p.Val399=)
c.1213G= (p.Val405=)
2g.127428779G>TCA348406310PROCc.1219G>T (p.Val407Phe)
c.543G>T
c.1321G>T (p.Val441Phe)
c.1402G>T (p.Val468Phe)
c.1384G>T (p.Val462Phe)
c.1282G>T (p.Val428Phe)
n.1332-515C>A
c.1462G>T (p.Val488Phe)
c.1564G>T (p.Val522Phe)
c.1504G>T (p.Val502Phe)
n.3607-515C>A
n.4043-515C>A
c.1387G>T (p.Val463Phe)
c.1405G>T (p.Val469Phe)
c.1162G>T (p.Val388Phe)
c.1195G>T (p.Val399Phe)
c.1213G>T (p.Val405Phe)
2g.127428780T>ACA348406312PROCc.1220T>A (p.Val407Asp)
c.544T>A
c.1322T>A (p.Val441Asp)
c.1403T>A (p.Val468Asp)
c.1385T>A (p.Val462Asp)
c.1283T>A (p.Val428Asp)
n.1332-516A>T
c.1463T>A (p.Val488Asp)
c.1565T>A (p.Val522Asp)
c.1505T>A (p.Val502Asp)
n.3607-516A>T
n.4043-516A>T
c.1388T>A (p.Val463Asp)
c.1406T>A (p.Val469Asp)
c.1163T>A (p.Val388Asp)
c.1196T>A (p.Val399Asp)
c.1214T>A (p.Val405Asp)
2g.127428780T>CCA348406314PROCc.1220T>C (p.Val407Ala)
c.544T>C
c.1322T>C (p.Val441Ala)
c.1403T>C (p.Val468Ala)
c.1385T>C (p.Val462Ala)
c.1283T>C (p.Val428Ala)
n.1332-516A>G
c.1463T>C (p.Val488Ala)
c.1565T>C (p.Val522Ala)
c.1505T>C (p.Val502Ala)
n.3607-516A>G
n.4043-516A>G
c.1388T>C (p.Val463Ala)
c.1406T>C (p.Val469Ala)
c.1163T>C (p.Val388Ala)
c.1196T>C (p.Val399Ala)
c.1214T>C (p.Val405Ala)
2g.127428780T>GCA348406316PROCc.1220T>G (p.Val407Gly)
c.544T>G
c.1322T>G (p.Val441Gly)
c.1403T>G (p.Val468Gly)
c.1385T>G (p.Val462Gly)
c.1283T>G (p.Val428Gly)
n.1332-516A>C
c.1463T>G (p.Val488Gly)
c.1565T>G (p.Val522Gly)
c.1505T>G (p.Val502Gly)
n.3607-516A>C
n.4043-516A>C
c.1388T>G (p.Val463Gly)
c.1406T>G (p.Val469Gly)
c.1163T>G (p.Val388Gly)
c.1196T>G (p.Val399Gly)
c.1214T>G (p.Val405Gly)
 dbSNP
2g.127428780T=CA1286884646PROCc.1220T= (p.Val407=)
c.544T=
c.1322T= (p.Val441=)
c.1403T= (p.Val468=)
c.1385T= (p.Val462=)
c.1283T= (p.Val428=)
n.1332-516A=
c.1463T= (p.Val488=)
c.1565T= (p.Val522=)
c.1505T= (p.Val502=)
n.3607-516A=
n.4043-516A=
c.1388T= (p.Val463=)
c.1406T= (p.Val469=)
c.1163T= (p.Val388=)
c.1196T= (p.Val399=)
c.1214T= (p.Val405=)
2g.127428781C>ACA428872528PROCc.1221C>A (p.Val407=)
c.545C>A
c.1323C>A (p.Val441=)
c.1404C>A (p.Val468=)
c.1386C>A (p.Val462=)
c.1284C>A (p.Val428=)
n.1332-517G>T
c.1464C>A (p.Val488=)
c.1566C>A (p.Val522=)
c.1506C>A (p.Val502=)
n.3607-517G>T
n.4043-517G>T
c.1389C>A (p.Val463=)
c.1407C>A (p.Val469=)
c.1164C>A (p.Val388=)
c.1197C>A (p.Val399=)
c.1215C>A (p.Val405=)
 gnomAD v4
2g.127428781C=CA1286884647PROCc.1221C= (p.Val407=)
c.545C=
c.1323C= (p.Val441=)
c.1404C= (p.Val468=)
c.1386C= (p.Val462=)
c.1284C= (p.Val428=)
n.1332-517G=
c.1464C= (p.Val488=)
c.1566C= (p.Val522=)
c.1506C= (p.Val502=)
n.3607-517G=
n.4043-517G=
c.1389C= (p.Val463=)
c.1407C= (p.Val469=)
c.1164C= (p.Val388=)
c.1197C= (p.Val399=)
c.1215C= (p.Val405=)
2g.127428781C>GCA428872531PROCc.1221C>G (p.Val407=)
c.545C>G
c.1323C>G (p.Val441=)
c.1404C>G (p.Val468=)
c.1386C>G (p.Val462=)
c.1284C>G (p.Val428=)
n.1332-517G>C
c.1464C>G (p.Val488=)
c.1566C>G (p.Val522=)
c.1506C>G (p.Val502=)
n.3607-517G>C
n.4043-517G>C
c.1389C>G (p.Val463=)
c.1407C>G (p.Val469=)
c.1164C>G (p.Val388=)
c.1197C>G (p.Val399=)
c.1215C>G (p.Val405=)
 dbSNP gnomAD v4
2g.127428781C>TCA1859549PROCc.1221C>T (p.Val407=)
c.545C>T
c.1323C>T (p.Val441=)
c.1404C>T (p.Val468=)
c.1386C>T (p.Val462=)
c.1284C>T (p.Val428=)
n.1332-517G>A
c.1464C>T (p.Val488=)
c.1566C>T (p.Val522=)
c.1506C>T (p.Val502=)
n.3607-517G>A
n.4043-517G>A
c.1389C>T (p.Val463=)
c.1407C>T (p.Val469=)
c.1164C>T (p.Val388=)
c.1197C>T (p.Val399=)
c.1215C>T (p.Val405=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428782G>ACA1859550PROCc.1222G>A (p.Ala408Thr)
c.546G>A
c.1324G>A (p.Ala442Thr)
c.1405G>A (p.Ala469Thr)
c.1387G>A (p.Ala463Thr)
c.1285G>A (p.Ala429Thr)
n.1332-518C>T
c.1465G>A (p.Ala489Thr)
c.1567G>A (p.Ala523Thr)
c.1507G>A (p.Ala503Thr)
n.3607-518C>T
n.4043-518C>T
c.1390G>A (p.Ala464Thr)
c.1408G>A (p.Ala470Thr)
c.1165G>A (p.Ala389Thr)
c.1198G>A (p.Ala400Thr)
c.1216G>A (p.Ala406Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428782G>CCA348406322PROCc.1222G>C (p.Ala408Pro)
c.546G>C
c.1324G>C (p.Ala442Pro)
c.1405G>C (p.Ala469Pro)
c.1387G>C (p.Ala463Pro)
c.1285G>C (p.Ala429Pro)
n.1332-518C>G
c.1465G>C (p.Ala489Pro)
c.1567G>C (p.Ala523Pro)
c.1507G>C (p.Ala503Pro)
n.3607-518C>G
n.4043-518C>G
c.1390G>C (p.Ala464Pro)
c.1408G>C (p.Ala470Pro)
c.1165G>C (p.Ala389Pro)
c.1198G>C (p.Ala400Pro)
c.1216G>C (p.Ala406Pro)
2g.127428782G=CA1286884648PROCc.1222G= (p.Ala408=)
c.546G=
c.1324G= (p.Ala442=)
c.1405G= (p.Ala469=)
c.1387G= (p.Ala463=)
c.1285G= (p.Ala429=)
n.1332-518C=
c.1465G= (p.Ala489=)
c.1567G= (p.Ala523=)
c.1507G= (p.Ala503=)
n.3607-518C=
n.4043-518C=
c.1390G= (p.Ala464=)
c.1408G= (p.Ala470=)
c.1165G= (p.Ala389=)
c.1198G= (p.Ala400=)
c.1216G= (p.Ala406=)
2g.127428782G>TCA348406324PROCc.1222G>T (p.Ala408Ser)
c.546G>T
c.1324G>T (p.Ala442Ser)
c.1405G>T (p.Ala469Ser)
c.1387G>T (p.Ala463Ser)
c.1285G>T (p.Ala429Ser)
n.1332-518C>A
c.1465G>T (p.Ala489Ser)
c.1567G>T (p.Ala523Ser)
c.1507G>T (p.Ala503Ser)
n.3607-518C>A
n.4043-518C>A
c.1390G>T (p.Ala464Ser)
c.1408G>T (p.Ala470Ser)
c.1165G>T (p.Ala389Ser)
c.1198G>T (p.Ala400Ser)
c.1216G>T (p.Ala406Ser)
2g.127428783C>ACA348406326PROCc.1223C>A (p.Ala408Asp)
c.547C>A
c.1325C>A (p.Ala442Asp)
c.1406C>A (p.Ala469Asp)
c.1388C>A (p.Ala463Asp)
c.1286C>A (p.Ala429Asp)
n.1332-519G>T
c.1466C>A (p.Ala489Asp)
c.1568C>A (p.Ala523Asp)
c.1508C>A (p.Ala503Asp)
n.3607-519G>T
n.4043-519G>T
c.1391C>A (p.Ala464Asp)
c.1409C>A (p.Ala470Asp)
c.1166C>A (p.Ala389Asp)
c.1199C>A (p.Ala400Asp)
c.1217C>A (p.Ala406Asp)
2g.127428783C=CA1286884649PROCc.1223C= (p.Ala408=)
c.547C=
c.1325C= (p.Ala442=)
c.1406C= (p.Ala469=)
c.1388C= (p.Ala463=)
c.1286C= (p.Ala429=)
n.1332-519G=
c.1466C= (p.Ala489=)
c.1568C= (p.Ala523=)
c.1508C= (p.Ala503=)
n.3607-519G=
n.4043-519G=
c.1391C= (p.Ala464=)
c.1409C= (p.Ala470=)
c.1166C= (p.Ala389=)
c.1199C= (p.Ala400=)
c.1217C= (p.Ala406=)
2g.127428783C>GCA348406328PROCc.1223C>G (p.Ala408Gly)
c.547C>G
c.1325C>G (p.Ala442Gly)
c.1406C>G (p.Ala469Gly)
c.1388C>G (p.Ala463Gly)
c.1286C>G (p.Ala429Gly)
n.1332-519G>C
c.1466C>G (p.Ala489Gly)
c.1568C>G (p.Ala523Gly)
c.1508C>G (p.Ala503Gly)
n.3607-519G>C
n.4043-519G>C
c.1391C>G (p.Ala464Gly)
c.1409C>G (p.Ala470Gly)
c.1166C>G (p.Ala389Gly)
c.1199C>G (p.Ala400Gly)
c.1217C>G (p.Ala406Gly)
2g.127428783C>TCA348406329PROCc.1223C>T (p.Ala408Val)
c.547C>T
c.1325C>T (p.Ala442Val)
c.1406C>T (p.Ala469Val)
c.1388C>T (p.Ala463Val)
c.1286C>T (p.Ala429Val)
n.1332-519G>A
c.1466C>T (p.Ala489Val)
c.1568C>T (p.Ala523Val)
c.1508C>T (p.Ala503Val)
n.3607-519G>A
n.4043-519G>A
c.1391C>T (p.Ala464Val)
c.1409C>T (p.Ala470Val)
c.1166C>T (p.Ala389Val)
c.1199C>T (p.Ala400Val)
c.1217C>T (p.Ala406Val)
 dbSNP gnomAD v4
2g.127428784C>ACA428872551PROCc.1224C>A (p.Ala408=)
c.548C>A
c.1326C>A (p.Ala442=)
c.1407C>A (p.Ala469=)
c.1389C>A (p.Ala463=)
c.1287C>A (p.Ala429=)
n.1332-520G>T
c.1467C>A (p.Ala489=)
c.1569C>A (p.Ala523=)
c.1509C>A (p.Ala503=)
n.3607-520G>T
n.4043-520G>T
c.1392C>A (p.Ala464=)
c.1410C>A (p.Ala470=)
c.1167C>A (p.Ala389=)
c.1200C>A (p.Ala400=)
c.1218C>A (p.Ala406=)
2g.127428784C>GCA428872554PROCc.1224C>G (p.Ala408=)
c.548C>G
c.1326C>G (p.Ala442=)
c.1407C>G (p.Ala469=)
c.1389C>G (p.Ala463=)
c.1287C>G (p.Ala429=)
n.1332-520G>C
c.1467C>G (p.Ala489=)
c.1569C>G (p.Ala523=)
c.1509C>G (p.Ala503=)
n.3607-520G>C
n.4043-520G>C
c.1392C>G (p.Ala464=)
c.1410C>G (p.Ala470=)
c.1167C>G (p.Ala389=)
c.1200C>G (p.Ala400=)
c.1218C>G (p.Ala406=)
2g.127428784C>TCA428872556PROCc.1224C>T (p.Ala408=)
c.548C>T
c.1326C>T (p.Ala442=)
c.1407C>T (p.Ala469=)
c.1389C>T (p.Ala463=)
c.1287C>T (p.Ala429=)
n.1332-520G>A
c.1467C>T (p.Ala489=)
c.1569C>T (p.Ala523=)
c.1509C>T (p.Ala503=)
n.3607-520G>A
n.4043-520G>A
c.1392C>T (p.Ala464=)
c.1410C>T (p.Ala470=)
c.1167C>T (p.Ala389=)
c.1200C>T (p.Ala400=)
c.1218C>T (p.Ala406=)
2g.127428785T>ACA348406331PROCc.1225T>A (p.Ser409Thr)
c.549T>A
c.1327T>A (p.Ser443Thr)
c.1408T>A (p.Ser470Thr)
c.1390T>A (p.Ser464Thr)
c.1288T>A (p.Ser430Thr)
n.1332-521A>T
c.1468T>A (p.Ser490Thr)
c.1570T>A (p.Ser524Thr)
c.1510T>A (p.Ser504Thr)
n.3607-521A>T
n.4043-521A>T
c.1393T>A (p.Ser465Thr)
c.1411T>A (p.Ser471Thr)
c.1168T>A (p.Ser390Thr)
c.1201T>A (p.Ser401Thr)
c.1219T>A (p.Ser407Thr)
2g.127428785T>CCA348406334PROCc.1225T>C (p.Ser409Pro)
c.549T>C
c.1327T>C (p.Ser443Pro)
c.1408T>C (p.Ser470Pro)
c.1390T>C (p.Ser464Pro)
c.1288T>C (p.Ser430Pro)
n.1332-521A>G
c.1468T>C (p.Ser490Pro)
c.1570T>C (p.Ser524Pro)
c.1510T>C (p.Ser504Pro)
n.3607-521A>G
n.4043-521A>G
c.1393T>C (p.Ser465Pro)
c.1411T>C (p.Ser471Pro)
c.1168T>C (p.Ser390Pro)
c.1201T>C (p.Ser401Pro)
c.1219T>C (p.Ser407Pro)
2g.127428785T>GCA348406335PROCc.1225T>G (p.Ser409Ala)
c.549T>G
c.1327T>G (p.Ser443Ala)
c.1408T>G (p.Ser470Ala)
c.1390T>G (p.Ser464Ala)
c.1288T>G (p.Ser430Ala)
n.1332-521A>C
c.1468T>G (p.Ser490Ala)
c.1570T>G (p.Ser524Ala)
c.1510T>G (p.Ser504Ala)
n.3607-521A>C
n.4043-521A>C
c.1393T>G (p.Ser465Ala)
c.1411T>G (p.Ser471Ala)
c.1168T>G (p.Ser390Ala)
c.1201T>G (p.Ser401Ala)
c.1219T>G (p.Ser407Ala)
2g.127428786C>ACA348406337PROCc.1226C>A (p.Ser409Tyr)
c.550C>A
c.1328C>A (p.Ser443Tyr)
c.1409C>A (p.Ser470Tyr)
c.1391C>A (p.Ser464Tyr)
c.1289C>A (p.Ser430Tyr)
n.1332-522G>T
c.1469C>A (p.Ser490Tyr)
c.1571C>A (p.Ser524Tyr)
c.1511C>A (p.Ser504Tyr)
n.3607-522G>T
n.4043-522G>T
c.1394C>A (p.Ser465Tyr)
c.1412C>A (p.Ser471Tyr)
c.1169C>A (p.Ser390Tyr)
c.1202C>A (p.Ser401Tyr)
c.1220C>A (p.Ser407Tyr)
 gnomAD v4
2g.127428786C=CA1286884650PROCc.1226C= (p.Ser409=)
c.550C=
c.1328C= (p.Ser443=)
c.1409C= (p.Ser470=)
c.1391C= (p.Ser464=)
c.1289C= (p.Ser430=)
n.1332-522G=
c.1469C= (p.Ser490=)
c.1571C= (p.Ser524=)
c.1511C= (p.Ser504=)
n.3607-522G=
n.4043-522G=
c.1394C= (p.Ser465=)
c.1412C= (p.Ser471=)
c.1169C= (p.Ser390=)
c.1202C= (p.Ser401=)
c.1220C= (p.Ser407=)
2g.127428786C>GCA348406339PROCc.1226C>G (p.Ser409Cys)
c.550C>G
c.1328C>G (p.Ser443Cys)
c.1409C>G (p.Ser470Cys)
c.1391C>G (p.Ser464Cys)
c.1289C>G (p.Ser430Cys)
n.1332-522G>C
c.1469C>G (p.Ser490Cys)
c.1571C>G (p.Ser524Cys)
c.1511C>G (p.Ser504Cys)
n.3607-522G>C
n.4043-522G>C
c.1394C>G (p.Ser465Cys)
c.1412C>G (p.Ser471Cys)
c.1169C>G (p.Ser390Cys)
c.1202C>G (p.Ser401Cys)
c.1220C>G (p.Ser407Cys)
2g.127428786C>TCA348406340PROCc.1226C>T (p.Ser409Phe)
c.550C>T
c.1328C>T (p.Ser443Phe)
c.1409C>T (p.Ser470Phe)
c.1391C>T (p.Ser464Phe)
c.1289C>T (p.Ser430Phe)
n.1332-522G>A
c.1469C>T (p.Ser490Phe)
c.1571C>T (p.Ser524Phe)
c.1511C>T (p.Ser504Phe)
n.3607-522G>A
n.4043-522G>A
c.1394C>T (p.Ser465Phe)
c.1412C>T (p.Ser471Phe)
c.1169C>T (p.Ser390Phe)
c.1202C>T (p.Ser401Phe)
c.1220C>T (p.Ser407Phe)
 dbSNP gnomAD v4
2g.127428787C>ACA428872574PROCc.1227C>A (p.Ser409=)
c.551C>A
c.1329C>A (p.Ser443=)
c.1410C>A (p.Ser470=)
c.1392C>A (p.Ser464=)
c.1290C>A (p.Ser430=)
n.1332-523G>T
c.1470C>A (p.Ser490=)
c.1572C>A (p.Ser524=)
c.1512C>A (p.Ser504=)
n.3607-523G>T
n.4043-523G>T
c.1395C>A (p.Ser465=)
c.1413C>A (p.Ser471=)
c.1170C>A (p.Ser390=)
c.1203C>A (p.Ser401=)
c.1221C>A (p.Ser407=)
2g.127428787C>GCA428872580PROCc.1227C>G (p.Ser409=)
c.551C>G
c.1329C>G (p.Ser443=)
c.1410C>G (p.Ser470=)
c.1392C>G (p.Ser464=)
c.1290C>G (p.Ser430=)
n.1332-523G>C
c.1470C>G (p.Ser490=)
c.1572C>G (p.Ser524=)
c.1512C>G (p.Ser504=)
n.3607-523G>C
n.4043-523G>C
c.1395C>G (p.Ser465=)
c.1413C>G (p.Ser471=)
c.1170C>G (p.Ser390=)
c.1203C>G (p.Ser401=)
c.1221C>G (p.Ser407=)
 gnomAD v4
2g.127428787C>TCA428872577PROCc.1227C>T (p.Ser409=)
c.551C>T
c.1329C>T (p.Ser443=)
c.1410C>T (p.Ser470=)
c.1392C>T (p.Ser464=)
c.1290C>T (p.Ser430=)
n.1332-523G>A
c.1470C>T (p.Ser490=)
c.1572C>T (p.Ser524=)
c.1512C>T (p.Ser504=)
n.3607-523G>A
n.4043-523G>A
c.1395C>T (p.Ser465=)
c.1413C>T (p.Ser471=)
c.1170C>T (p.Ser390=)
c.1203C>T (p.Ser401=)
c.1221C>T (p.Ser407=)
2g.127428788T>ACA348406343PROCc.1228T>A (p.Phe410Ile)
c.552T>A
c.1330T>A (p.Phe444Ile)
c.1411T>A (p.Phe471Ile)
c.1393T>A (p.Phe465Ile)
c.1291T>A (p.Phe431Ile)
n.1332-524A>T
c.1471T>A (p.Phe491Ile)
c.1573T>A (p.Phe525Ile)
c.1513T>A (p.Phe505Ile)
n.3607-524A>T
n.4043-524A>T
c.1396T>A (p.Phe466Ile)
c.1414T>A (p.Phe472Ile)
c.1171T>A (p.Phe391Ile)
c.1204T>A (p.Phe402Ile)
c.1222T>A (p.Phe408Ile)
2g.127428788T>CCA348406345PROCc.1228T>C (p.Phe410Leu)
c.552T>C
c.1330T>C (p.Phe444Leu)
c.1411T>C (p.Phe471Leu)
c.1393T>C (p.Phe465Leu)
c.1291T>C (p.Phe431Leu)
n.1332-524A>G
c.1471T>C (p.Phe491Leu)
c.1573T>C (p.Phe525Leu)
c.1513T>C (p.Phe505Leu)
n.3607-524A>G
n.4043-524A>G
c.1396T>C (p.Phe466Leu)
c.1414T>C (p.Phe472Leu)
c.1171T>C (p.Phe391Leu)
c.1204T>C (p.Phe402Leu)
c.1222T>C (p.Phe408Leu)
2g.127428788T>GCA348406342PROCc.1228T>G (p.Phe410Val)
c.552T>G
c.1330T>G (p.Phe444Val)
c.1411T>G (p.Phe471Val)
c.1393T>G (p.Phe465Val)
c.1291T>G (p.Phe431Val)
n.1332-524A>C
c.1471T>G (p.Phe491Val)
c.1573T>G (p.Phe525Val)
c.1513T>G (p.Phe505Val)
n.3607-524A>C
n.4043-524A>C
c.1396T>G (p.Phe466Val)
c.1414T>G (p.Phe472Val)
c.1171T>G (p.Phe391Val)
c.1204T>G (p.Phe402Val)
c.1222T>G (p.Phe408Val)
2g.127428789T>ACA348406346PROCc.1229T>A (p.Phe410Tyr)
c.553T>A
c.1331T>A (p.Phe444Tyr)
c.1412T>A (p.Phe471Tyr)
c.1394T>A (p.Phe465Tyr)
c.1292T>A (p.Phe431Tyr)
n.1332-525A>T
c.1472T>A (p.Phe491Tyr)
c.1574T>A (p.Phe525Tyr)
c.1514T>A (p.Phe505Tyr)
n.3607-525A>T
n.4043-525A>T
c.1397T>A (p.Phe466Tyr)
c.1415T>A (p.Phe472Tyr)
c.1172T>A (p.Phe391Tyr)
c.1205T>A (p.Phe402Tyr)
c.1223T>A (p.Phe408Tyr)
2g.127428789T>CCA348406348PROCc.1229T>C (p.Phe410Ser)
c.553T>C
c.1331T>C (p.Phe444Ser)
c.1412T>C (p.Phe471Ser)
c.1394T>C (p.Phe465Ser)
c.1292T>C (p.Phe431Ser)
n.1332-525A>G
c.1472T>C (p.Phe491Ser)
c.1574T>C (p.Phe525Ser)
c.1514T>C (p.Phe505Ser)
n.3607-525A>G
n.4043-525A>G
c.1397T>C (p.Phe466Ser)
c.1415T>C (p.Phe472Ser)
c.1172T>C (p.Phe391Ser)
c.1205T>C (p.Phe402Ser)
c.1223T>C (p.Phe408Ser)
 dbSNP
2g.127428789T>GCA348406349PROCc.1229T>G (p.Phe410Cys)
c.553T>G
c.1331T>G (p.Phe444Cys)
c.1412T>G (p.Phe471Cys)
c.1394T>G (p.Phe465Cys)
c.1292T>G (p.Phe431Cys)
n.1332-525A>C
c.1472T>G (p.Phe491Cys)
c.1574T>G (p.Phe525Cys)
c.1514T>G (p.Phe505Cys)
n.3607-525A>C
n.4043-525A>C
c.1397T>G (p.Phe466Cys)
c.1415T>G (p.Phe472Cys)
c.1172T>G (p.Phe391Cys)
c.1205T>G (p.Phe402Cys)
c.1223T>G (p.Phe408Cys)
2g.127428789T=CA1286884651PROCc.1229T= (p.Phe410=)
c.553T=
c.1331T= (p.Phe444=)
c.1412T= (p.Phe471=)
c.1394T= (p.Phe465=)
c.1292T= (p.Phe431=)
n.1332-525A=
c.1472T= (p.Phe491=)
c.1574T= (p.Phe525=)
c.1514T= (p.Phe505=)
n.3607-525A=
n.4043-525A=
c.1397T= (p.Phe466=)
c.1415T= (p.Phe472=)
c.1172T= (p.Phe391=)
c.1205T= (p.Phe402=)
c.1223T= (p.Phe408=)
2g.127428790C>ACA348406353PROCc.1230C>A (p.Phe410Leu)
c.554C>A
c.1332C>A (p.Phe444Leu)
c.1413C>A (p.Phe471Leu)
c.1395C>A (p.Phe465Leu)
c.1293C>A (p.Phe431Leu)
n.1332-526G>T
c.1473C>A (p.Phe491Leu)
c.1575C>A (p.Phe525Leu)
c.1515C>A (p.Phe505Leu)
n.3607-526G>T
n.4043-526G>T
c.1398C>A (p.Phe466Leu)
c.1416C>A (p.Phe472Leu)
c.1173C>A (p.Phe391Leu)
c.1206C>A (p.Phe402Leu)
c.1224C>A (p.Phe408Leu)
2g.127428790C=CA1286884652PROCc.1230C= (p.Phe410=)
c.554C=
c.1332C= (p.Phe444=)
c.1413C= (p.Phe471=)
c.1395C= (p.Phe465=)
c.1293C= (p.Phe431=)
n.1332-526G=
c.1473C= (p.Phe491=)
c.1575C= (p.Phe525=)
c.1515C= (p.Phe505=)
n.3607-526G=
n.4043-526G=
c.1398C= (p.Phe466=)
c.1416C= (p.Phe472=)
c.1173C= (p.Phe391=)
c.1206C= (p.Phe402=)
c.1224C= (p.Phe408=)
2g.127428790C>GCA348406354PROCc.1230C>G (p.Phe410Leu)
c.554C>G
c.1332C>G (p.Phe444Leu)
c.1413C>G (p.Phe471Leu)
c.1395C>G (p.Phe465Leu)
c.1293C>G (p.Phe431Leu)
n.1332-526G>C
c.1473C>G (p.Phe491Leu)
c.1575C>G (p.Phe525Leu)
c.1515C>G (p.Phe505Leu)
n.3607-526G>C
n.4043-526G>C
c.1398C>G (p.Phe466Leu)
c.1416C>G (p.Phe472Leu)
c.1173C>G (p.Phe391Leu)
c.1206C>G (p.Phe402Leu)
c.1224C>G (p.Phe408Leu)
2g.127428790C>TCA428872601PROCc.1230C>T (p.Phe410=)
c.554C>T
c.1332C>T (p.Phe444=)
c.1413C>T (p.Phe471=)
c.1395C>T (p.Phe465=)
c.1293C>T (p.Phe431=)
n.1332-526G>A
c.1473C>T (p.Phe491=)
c.1575C>T (p.Phe525=)
c.1515C>T (p.Phe505=)
n.3607-526G>A
n.4043-526G>A
c.1398C>T (p.Phe466=)
c.1416C>T (p.Phe472=)
c.1173C>T (p.Phe391=)
c.1206C>T (p.Phe402=)
c.1224C>T (p.Phe408=)
 ClinVar dbSNP
2g.127428791C>ACA348406359PROCc.1231C>A (p.His411Asn)
c.555C>A
c.1333C>A (p.His445Asn)
c.1414C>A (p.His472Asn)
c.1396C>A (p.His466Asn)
c.1294C>A (p.His432Asn)
n.1332-527G>T
c.1474C>A (p.His492Asn)
c.1576C>A (p.His526Asn)
c.1516C>A (p.His506Asn)
n.3607-527G>T
n.4043-527G>T
c.1399C>A (p.His467Asn)
c.1417C>A (p.His473Asn)
c.1174C>A (p.His392Asn)
c.1207C>A (p.His403Asn)
c.1225C>A (p.His409Asn)
2g.127428791C=CA1286884653PROCc.1231C= (p.His411=)
c.555C=
c.1333C= (p.His445=)
c.1414C= (p.His472=)
c.1396C= (p.His466=)
c.1294C= (p.His432=)
n.1332-527G=
c.1474C= (p.His492=)
c.1576C= (p.His526=)
c.1516C= (p.His506=)
n.3607-527G=
n.4043-527G=
c.1399C= (p.His467=)
c.1417C= (p.His473=)
c.1174C= (p.His392=)
c.1207C= (p.His403=)
c.1225C= (p.His409=)
2g.127428791C>GCA348406357PROCc.1231C>G (p.His411Asp)
c.555C>G
c.1333C>G (p.His445Asp)
c.1414C>G (p.His472Asp)
c.1396C>G (p.His466Asp)
c.1294C>G (p.His432Asp)
n.1332-527G>C
c.1474C>G (p.His492Asp)
c.1576C>G (p.His526Asp)
c.1516C>G (p.His506Asp)
n.3607-527G>C
n.4043-527G>C
c.1399C>G (p.His467Asp)
c.1417C>G (p.His473Asp)
c.1174C>G (p.His392Asp)
c.1207C>G (p.His403Asp)
c.1225C>G (p.His409Asp)
2g.127428791C>TCA348406356PROCc.1231C>T (p.His411Tyr)
c.555C>T
c.1333C>T (p.His445Tyr)
c.1414C>T (p.His472Tyr)
c.1396C>T (p.His466Tyr)
c.1294C>T (p.His432Tyr)
n.1332-527G>A
c.1474C>T (p.His492Tyr)
c.1576C>T (p.His526Tyr)
c.1516C>T (p.His506Tyr)
n.3607-527G>A
n.4043-527G>A
c.1399C>T (p.His467Tyr)
c.1417C>T (p.His473Tyr)
c.1174C>T (p.His392Tyr)
c.1207C>T (p.His403Tyr)
c.1225C>T (p.His409Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.127428792A=CA1286884654PROCc.1232A= (p.His411=)
c.556A=
c.1334A= (p.His445=)
c.1415A= (p.His472=)
c.1397A= (p.His466=)
c.1295A= (p.His432=)
n.1332-528T=
c.1475A= (p.His492=)
c.1577A= (p.His526=)
c.1517A= (p.His506=)
n.3607-528T=
n.4043-528T=
c.1400A= (p.His467=)
c.1418A= (p.His473=)
c.1175A= (p.His392=)
c.1208A= (p.His403=)
c.1226A= (p.His409=)
2g.127428792A>CCA348406362PROCc.1232A>C (p.His411Pro)
c.556A>C
c.1334A>C (p.His445Pro)
c.1415A>C (p.His472Pro)
c.1397A>C (p.His466Pro)
c.1295A>C (p.His432Pro)
n.1332-528T>G
c.1475A>C (p.His492Pro)
c.1577A>C (p.His526Pro)
c.1517A>C (p.His506Pro)
n.3607-528T>G
n.4043-528T>G
c.1400A>C (p.His467Pro)
c.1418A>C (p.His473Pro)
c.1175A>C (p.His392Pro)
c.1208A>C (p.His403Pro)
c.1226A>C (p.His409Pro)
2g.127428792A>GCA348406364PROCc.1232A>G (p.His411Arg)
c.556A>G
c.1334A>G (p.His445Arg)
c.1415A>G (p.His472Arg)
c.1397A>G (p.His466Arg)
c.1295A>G (p.His432Arg)
n.1332-528T>C
c.1475A>G (p.His492Arg)
c.1577A>G (p.His526Arg)
c.1517A>G (p.His506Arg)
n.3607-528T>C
n.4043-528T>C
c.1400A>G (p.His467Arg)
c.1418A>G (p.His473Arg)
c.1175A>G (p.His392Arg)
c.1208A>G (p.His403Arg)
c.1226A>G (p.His409Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.127428792A>TCA348406365PROCc.1232A>T (p.His411Leu)
c.556A>T
c.1334A>T (p.His445Leu)
c.1415A>T (p.His472Leu)
c.1397A>T (p.His466Leu)
c.1295A>T (p.His432Leu)
n.1332-528T>A
c.1475A>T (p.His492Leu)
c.1577A>T (p.His526Leu)
c.1517A>T (p.His506Leu)
n.3607-528T>A
n.4043-528T>A
c.1400A>T (p.His467Leu)
c.1418A>T (p.His473Leu)
c.1175A>T (p.His392Leu)
c.1208A>T (p.His403Leu)
c.1226A>T (p.His409Leu)
2g.127428793C>ACA348406367PROCc.1233C>A (p.His411Gln)
c.557C>A
c.1335C>A (p.His445Gln)
c.1416C>A (p.His472Gln)
c.1398C>A (p.His466Gln)
c.1296C>A (p.His432Gln)
n.1332-529G>T
c.1476C>A (p.His492Gln)
c.1578C>A (p.His526Gln)
c.1518C>A (p.His506Gln)
n.3607-529G>T
n.4043-529G>T
c.1401C>A (p.His467Gln)
c.1419C>A (p.His473Gln)
c.1176C>A (p.His392Gln)
c.1209C>A (p.His403Gln)
c.1227C>A (p.His409Gln)
2g.127428793C=CA1286884655PROCc.1233C= (p.His411=)
c.557C=
c.1335C= (p.His445=)
c.1416C= (p.His472=)
c.1398C= (p.His466=)
c.1296C= (p.His432=)
n.1332-529G=
c.1476C= (p.His492=)
c.1578C= (p.His526=)
c.1518C= (p.His506=)
n.3607-529G=
n.4043-529G=
c.1401C= (p.His467=)
c.1419C= (p.His473=)
c.1176C= (p.His392=)
c.1209C= (p.His403=)
c.1227C= (p.His409=)
2g.127428793C>GCA348406368PROCc.1233C>G (p.His411Gln)
c.557C>G
c.1335C>G (p.His445Gln)
c.1416C>G (p.His472Gln)
c.1398C>G (p.His466Gln)
c.1296C>G (p.His432Gln)
n.1332-529G>C
c.1476C>G (p.His492Gln)
c.1578C>G (p.His526Gln)
c.1518C>G (p.His506Gln)
n.3607-529G>C
n.4043-529G>C
c.1401C>G (p.His467Gln)
c.1419C>G (p.His473Gln)
c.1176C>G (p.His392Gln)
c.1209C>G (p.His403Gln)
c.1227C>G (p.His409Gln)
 dbSNP
2g.127428793C>TCA1859551PROCc.1233C>T (p.His411=)
c.557C>T
c.1335C>T (p.His445=)
c.1416C>T (p.His472=)
c.1398C>T (p.His466=)
c.1296C>T (p.His432=)
n.1332-529G>A
c.1476C>T (p.His492=)
c.1578C>T (p.His526=)
c.1518C>T (p.His506=)
n.3607-529G>A
n.4043-529G>A
c.1401C>T (p.His467=)
c.1419C>T (p.His473=)
c.1176C>T (p.His392=)
c.1209C>T (p.His403=)
c.1227C>T (p.His409=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428794G>ACA211715PROCc.1234G>A (p.Gly412Ser)
c.558G>A
c.1336G>A (p.Gly446Ser)
c.1417G>A (p.Gly473Ser)
c.1399G>A (p.Gly467Ser)
c.1297G>A (p.Gly433Ser)
n.1332-530C>T
c.1477G>A (p.Gly493Ser)
c.1579G>A (p.Gly527Ser)
c.1519G>A (p.Gly507Ser)
n.3607-530C>T
n.4043-530C>T
c.1402G>A (p.Gly468Ser)
c.1420G>A (p.Gly474Ser)
c.1177G>A (p.Gly393Ser)
c.1210G>A (p.Gly404Ser)
c.1228G>A (p.Gly410Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.127428794G>CCA348406374PROCc.1234G>C (p.Gly412Arg)
c.558G>C
c.1336G>C (p.Gly446Arg)
c.1417G>C (p.Gly473Arg)
c.1399G>C (p.Gly467Arg)
c.1297G>C (p.Gly433Arg)
n.1332-530C>G
c.1477G>C (p.Gly493Arg)
c.1579G>C (p.Gly527Arg)
c.1519G>C (p.Gly507Arg)
n.3607-530C>G
n.4043-530C>G
c.1402G>C (p.Gly468Arg)
c.1420G>C (p.Gly474Arg)
c.1177G>C (p.Gly393Arg)
c.1210G>C (p.Gly404Arg)
c.1228G>C (p.Gly410Arg)
2g.127428794G=CA1286884656PROCc.1234G= (p.Gly412=)
c.558G=
c.1336G= (p.Gly446=)
c.1417G= (p.Gly473=)
c.1399G= (p.Gly467=)
c.1297G= (p.Gly433=)
n.1332-530C=
c.1477G= (p.Gly493=)
c.1579G= (p.Gly527=)
c.1519G= (p.Gly507=)
n.3607-530C=
n.4043-530C=
c.1402G= (p.Gly468=)
c.1420G= (p.Gly474=)
c.1177G= (p.Gly393=)
c.1210G= (p.Gly404=)
c.1228G= (p.Gly410=)
2g.127428794G>TCA348406372PROCc.1234G>T (p.Gly412Cys)
c.558G>T
c.1336G>T (p.Gly446Cys)
c.1417G>T (p.Gly473Cys)
c.1399G>T (p.Gly467Cys)
c.1297G>T (p.Gly433Cys)
n.1332-530C>A
c.1477G>T (p.Gly493Cys)
c.1579G>T (p.Gly527Cys)
c.1519G>T (p.Gly507Cys)
n.3607-530C>A
n.4043-530C>A
c.1402G>T (p.Gly468Cys)
c.1420G>T (p.Gly474Cys)
c.1177G>T (p.Gly393Cys)
c.1210G>T (p.Gly404Cys)
c.1228G>T (p.Gly410Cys)
2g.127428795G>ACA348406377PROCc.1235G>A (p.Gly412Asp)
c.559G>A
c.1337G>A (p.Gly446Asp)
c.1418G>A (p.Gly473Asp)
c.1400G>A (p.Gly467Asp)
c.1298G>A (p.Gly433Asp)
n.1332-531C>T
c.1478G>A (p.Gly493Asp)
c.1580G>A (p.Gly527Asp)
c.1520G>A (p.Gly507Asp)
n.3607-531C>T
n.4043-531C>T
c.1403G>A (p.Gly468Asp)
c.1421G>A (p.Gly474Asp)
c.1178G>A (p.Gly393Asp)
c.1211G>A (p.Gly404Asp)
c.1229G>A (p.Gly410Asp)
 COSMIC
2g.127428795G>CCA348406378PROCc.1235G>C (p.Gly412Ala)
c.559G>C
c.1337G>C (p.Gly446Ala)
c.1418G>C (p.Gly473Ala)
c.1400G>C (p.Gly467Ala)
c.1298G>C (p.Gly433Ala)
n.1332-531C>G
c.1478G>C (p.Gly493Ala)
c.1580G>C (p.Gly527Ala)
c.1520G>C (p.Gly507Ala)
n.3607-531C>G
n.4043-531C>G
c.1403G>C (p.Gly468Ala)
c.1421G>C (p.Gly474Ala)
c.1178G>C (p.Gly393Ala)
c.1211G>C (p.Gly404Ala)
c.1229G>C (p.Gly410Ala)
2g.127428795G>TCA348406380PROCc.1235G>T (p.Gly412Val)
c.559G>T
c.1337G>T (p.Gly446Val)
c.1418G>T (p.Gly473Val)
c.1400G>T (p.Gly467Val)
c.1298G>T (p.Gly433Val)
n.1332-531C>A
c.1478G>T (p.Gly493Val)
c.1580G>T (p.Gly527Val)
c.1520G>T (p.Gly507Val)
n.3607-531C>A
n.4043-531C>A
c.1403G>T (p.Gly468Val)
c.1421G>T (p.Gly474Val)
c.1178G>T (p.Gly393Val)
c.1211G>T (p.Gly404Val)
c.1229G>T (p.Gly410Val)
2g.127428796C>ACA428872640PROCc.1236C>A (p.Gly412=)
c.560C>A
c.1338C>A (p.Gly446=)
c.1419C>A (p.Gly473=)
c.1401C>A (p.Gly467=)
c.1299C>A (p.Gly433=)
n.1332-532G>T
c.1479C>A (p.Gly493=)
c.1581C>A (p.Gly527=)
c.1521C>A (p.Gly507=)
n.3607-532G>T
n.4043-532G>T
c.1404C>A (p.Gly468=)
c.1422C>A (p.Gly474=)
c.1179C>A (p.Gly393=)
c.1212C>A (p.Gly404=)
c.1230C>A (p.Gly410=)
2g.127428796C=CA1286884657PROCc.1236C= (p.Gly412=)
c.560C=
c.1338C= (p.Gly446=)
c.1419C= (p.Gly473=)
c.1401C= (p.Gly467=)
c.1299C= (p.Gly433=)
n.1332-532G=
c.1479C= (p.Gly493=)
c.1581C= (p.Gly527=)
c.1521C= (p.Gly507=)
n.3607-532G=
n.4043-532G=
c.1404C= (p.Gly468=)
c.1422C= (p.Gly474=)
c.1179C= (p.Gly393=)
c.1212C= (p.Gly404=)
c.1230C= (p.Gly410=)
2g.127428796C>GCA428872642PROCc.1236C>G (p.Gly412=)
c.560C>G
c.1338C>G (p.Gly446=)
c.1419C>G (p.Gly473=)
c.1401C>G (p.Gly467=)
c.1299C>G (p.Gly433=)
n.1332-532G>C
c.1479C>G (p.Gly493=)
c.1581C>G (p.Gly527=)
c.1521C>G (p.Gly507=)
n.3607-532G>C
n.4043-532G>C
c.1404C>G (p.Gly468=)
c.1422C>G (p.Gly474=)
c.1179C>G (p.Gly393=)
c.1212C>G (p.Gly404=)
c.1230C>G (p.Gly410=)
2g.127428796C>TCA428872645PROCc.1236C>T (p.Gly412=)
c.560C>T
c.1338C>T (p.Gly446=)
c.1419C>T (p.Gly473=)
c.1401C>T (p.Gly467=)
c.1299C>T (p.Gly433=)
n.1332-532G>A
c.1479C>T (p.Gly493=)
c.1581C>T (p.Gly527=)
c.1521C>T (p.Gly507=)
n.3607-532G>A
n.4043-532G>A
c.1404C>T (p.Gly468=)
c.1422C>T (p.Gly474=)
c.1179C>T (p.Gly393=)
c.1212C>T (p.Gly404=)
c.1230C>T (p.Gly410=)
 dbSNP
2g.127428797A=CA1286884658PROCc.1237A= (p.Thr413=)
c.561A=
c.1339A= (p.Thr447=)
c.1420A= (p.Thr474=)
c.1402A= (p.Thr468=)
c.1300A= (p.Thr434=)
n.1332-533T=
c.1480A= (p.Thr494=)
c.1582A= (p.Thr528=)
c.1522A= (p.Thr508=)
n.3607-533T=
n.4043-533T=
c.1405A= (p.Thr469=)
c.1423A= (p.Thr475=)
c.1180A= (p.Thr394=)
c.1213A= (p.Thr405=)
c.1231A= (p.Thr411=)
2g.127428797A>CCA348406382PROCc.1237A>C (p.Thr413Pro)
c.561A>C
c.1339A>C (p.Thr447Pro)
c.1420A>C (p.Thr474Pro)
c.1402A>C (p.Thr468Pro)
c.1300A>C (p.Thr434Pro)
n.1332-533T>G
c.1480A>C (p.Thr494Pro)
c.1582A>C (p.Thr528Pro)
c.1522A>C (p.Thr508Pro)
n.3607-533T>G
n.4043-533T>G
c.1405A>C (p.Thr469Pro)
c.1423A>C (p.Thr475Pro)
c.1180A>C (p.Thr394Pro)
c.1213A>C (p.Thr405Pro)
c.1231A>C (p.Thr411Pro)
2g.127428797A>GCA1859552PROCc.1237A>G (p.Thr413Ala)
c.561A>G
c.1339A>G (p.Thr447Ala)
c.1420A>G (p.Thr474Ala)
c.1402A>G (p.Thr468Ala)
c.1300A>G (p.Thr434Ala)
n.1332-533T>C
c.1480A>G (p.Thr494Ala)
c.1582A>G (p.Thr528Ala)
c.1522A>G (p.Thr508Ala)
n.3607-533T>C
n.4043-533T>C
c.1405A>G (p.Thr469Ala)
c.1423A>G (p.Thr475Ala)
c.1180A>G (p.Thr394Ala)
c.1213A>G (p.Thr405Ala)
c.1231A>G (p.Thr411Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428797A>TCA348406385PROCc.1237A>T (p.Thr413Ser)
c.561A>T
c.1339A>T (p.Thr447Ser)
c.1420A>T (p.Thr474Ser)
c.1402A>T (p.Thr468Ser)
c.1300A>T (p.Thr434Ser)
n.1332-533T>A
c.1480A>T (p.Thr494Ser)
c.1582A>T (p.Thr528Ser)
c.1522A>T (p.Thr508Ser)
n.3607-533T>A
n.4043-533T>A
c.1405A>T (p.Thr469Ser)
c.1423A>T (p.Thr475Ser)
c.1180A>T (p.Thr394Ser)
c.1213A>T (p.Thr405Ser)
c.1231A>T (p.Thr411Ser)
2g.127428797_127428798insTCATTATGGGCTACTCGCGGCAGATCTACTCCA914468618PROCc.1237_1238insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr413IlefsTer22)
c.561_562insTCATTATGGGCTACTCGCGGCAGATCTACTC
c.1339_1340insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr447IlefsTer22)
c.1420_1421insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr474IlefsTer22)
c.1402_1403insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr468IlefsTer22)
c.1300_1301insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr434IlefsTer22)
n.1332-534_1332-533insGAGTAGATCTGCCGCGAGTAGCCCATAATGA
c.1480_1481insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr494IlefsTer22)
c.1582_1583insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr528IlefsTer22)
c.1522_1523insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr508IlefsTer22)
n.3607-534_3607-533insGAGTAGATCTGCCGCGAGTAGCCCATAATGA
n.4043-534_4043-533insGAGTAGATCTGCCGCGAGTAGCCCATAATGA
c.1405_1406insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr469IlefsTer22)
c.1423_1424insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr475IlefsTer22)
c.1180_1181insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr394IlefsTer22)
c.1213_1214insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr405IlefsTer22)
c.1231_1232insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr411IlefsTer22)
 gnomAD v2
2g.127428798C>ACA348406386PROCc.1238C>A (p.Thr413Asn)
c.562C>A
c.1340C>A (p.Thr447Asn)
c.1421C>A (p.Thr474Asn)
c.1403C>A (p.Thr468Asn)
c.1301C>A (p.Thr434Asn)
n.1332-534G>T
c.1481C>A (p.Thr494Asn)
c.1583C>A (p.Thr528Asn)
c.1523C>A (p.Thr508Asn)
n.3607-534G>T
n.4043-534G>T
c.1406C>A (p.Thr469Asn)
c.1424C>A (p.Thr475Asn)
c.1181C>A (p.Thr394Asn)
c.1214C>A (p.Thr405Asn)
c.1232C>A (p.Thr411Asn)
2g.127428798C>GCA348406389PROCc.1238C>G (p.Thr413Ser)
c.562C>G
c.1340C>G (p.Thr447Ser)
c.1421C>G (p.Thr474Ser)
c.1403C>G (p.Thr468Ser)
c.1301C>G (p.Thr434Ser)
n.1332-534G>C
c.1481C>G (p.Thr494Ser)
c.1583C>G (p.Thr528Ser)
c.1523C>G (p.Thr508Ser)
n.3607-534G>C
n.4043-534G>C
c.1406C>G (p.Thr469Ser)
c.1424C>G (p.Thr475Ser)
c.1181C>G (p.Thr394Ser)
c.1214C>G (p.Thr405Ser)
c.1232C>G (p.Thr411Ser)
2g.127428798C>TCA348406397PROCc.1238C>T (p.Thr413Ile)
c.562C>T
c.1340C>T (p.Thr447Ile)
c.1421C>T (p.Thr474Ile)
c.1403C>T (p.Thr468Ile)
c.1301C>T (p.Thr434Ile)
n.1332-534G>A
c.1481C>T (p.Thr494Ile)
c.1583C>T (p.Thr528Ile)
c.1523C>T (p.Thr508Ile)
n.3607-534G>A
n.4043-534G>A
c.1406C>T (p.Thr469Ile)
c.1424C>T (p.Thr475Ile)
c.1181C>T (p.Thr394Ile)
c.1214C>T (p.Thr405Ile)
c.1232C>T (p.Thr411Ile)
2g.127428798_127428801dupCA2577090358PROCc.1238_1241dup (p.Trp414CysfsTer12)
c.562_565dup
c.1340_1343dup (p.Trp448CysfsTer12)
c.1421_1424dup (p.Trp475CysfsTer12)
c.1403_1406dup (p.Trp469CysfsTer12)
c.1301_1304dup (p.Trp435CysfsTer12)
n.1332-537_1332-534dup
c.1481_1484dup (p.Trp495CysfsTer12)
c.1583_1586dup (p.Trp529CysfsTer12)
c.1523_1526dup (p.Trp509CysfsTer12)
n.3607-537_3607-534dup
n.4043-537_4043-534dup
c.1406_1409dup (p.Trp470CysfsTer12)
c.1424_1427dup (p.Trp476CysfsTer12)
c.1181_1184dup (p.Trp395CysfsTer12)
c.1214_1217dup (p.Trp406CysfsTer12)
c.1232_1235dup (p.Trp412CysfsTer12)
2g.127428799C>ACA428872663PROCc.1239C>A (p.Thr413=)
c.563C>A
c.1341C>A (p.Thr447=)
c.1422C>A (p.Thr474=)
c.1404C>A (p.Thr468=)
c.1302C>A (p.Thr434=)
n.1332-535G>T
c.1482C>A (p.Thr494=)
c.1584C>A (p.Thr528=)
c.1524C>A (p.Thr508=)
n.3607-535G>T
n.4043-535G>T
c.1407C>A (p.Thr469=)
c.1425C>A (p.Thr475=)
c.1182C>A (p.Thr394=)
c.1215C>A (p.Thr405=)
c.1233C>A (p.Thr411=)
2g.127428799C>GCA428872666PROCc.1239C>G (p.Thr413=)
c.563C>G
c.1341C>G (p.Thr447=)
c.1422C>G (p.Thr474=)
c.1404C>G (p.Thr468=)
c.1302C>G (p.Thr434=)
n.1332-535G>C
c.1482C>G (p.Thr494=)
c.1584C>G (p.Thr528=)
c.1524C>G (p.Thr508=)
n.3607-535G>C
n.4043-535G>C
c.1407C>G (p.Thr469=)
c.1425C>G (p.Thr475=)
c.1182C>G (p.Thr394=)
c.1215C>G (p.Thr405=)
c.1233C>G (p.Thr411=)
2g.127428799C>TCA428872667PROCc.1239C>T (p.Thr413=)
c.563C>T
c.1341C>T (p.Thr447=)
c.1422C>T (p.Thr474=)
c.1404C>T (p.Thr468=)
c.1302C>T (p.Thr434=)
n.1332-535G>A
c.1482C>T (p.Thr494=)
c.1584C>T (p.Thr528=)
c.1524C>T (p.Thr508=)
n.3607-535G>A
n.4043-535G>A
c.1407C>T (p.Thr469=)
c.1425C>T (p.Thr475=)
c.1182C>T (p.Thr394=)
c.1215C>T (p.Thr405=)
c.1233C>T (p.Thr411=)
2g.127428800T>ACA348406399PROCc.1240T>A (p.Trp414Arg)
c.564T>A
c.1342T>A (p.Trp448Arg)
c.1423T>A (p.Trp475Arg)
c.1405T>A (p.Trp469Arg)
c.1303T>A (p.Trp435Arg)
n.1332-536A>T
c.1483T>A (p.Trp495Arg)
c.1585T>A (p.Trp529Arg)
c.1525T>A (p.Trp509Arg)
n.3607-536A>T
n.4043-536A>T
c.1408T>A (p.Trp470Arg)
c.1426T>A (p.Trp476Arg)
c.1183T>A (p.Trp395Arg)
c.1216T>A (p.Trp406Arg)
c.1234T>A (p.Trp412Arg)
2g.127428800T>CCA348406401PROCc.1240T>C (p.Trp414Arg)
c.564T>C
c.1342T>C (p.Trp448Arg)
c.1423T>C (p.Trp475Arg)
c.1405T>C (p.Trp469Arg)
c.1303T>C (p.Trp435Arg)
n.1332-536A>G
c.1483T>C (p.Trp495Arg)
c.1585T>C (p.Trp529Arg)
c.1525T>C (p.Trp509Arg)
n.3607-536A>G
n.4043-536A>G
c.1408T>C (p.Trp470Arg)
c.1426T>C (p.Trp476Arg)
c.1183T>C (p.Trp395Arg)
c.1216T>C (p.Trp406Arg)
c.1234T>C (p.Trp412Arg)
 ClinVar gnomAD v4
2g.127428800T>GCA348406402PROCc.1240T>G (p.Trp414Gly)
c.564T>G
c.1342T>G (p.Trp448Gly)
c.1423T>G (p.Trp475Gly)
c.1405T>G (p.Trp469Gly)
c.1303T>G (p.Trp435Gly)
n.1332-536A>C
c.1483T>G (p.Trp495Gly)
c.1585T>G (p.Trp529Gly)
c.1525T>G (p.Trp509Gly)
n.3607-536A>C
n.4043-536A>C
c.1408T>G (p.Trp470Gly)
c.1426T>G (p.Trp476Gly)
c.1183T>G (p.Trp395Gly)
c.1216T>G (p.Trp406Gly)
c.1234T>G (p.Trp412Gly)
2g.127428801G>ACA348406405PROCc.1241G>A (p.Trp414Ter)
c.565G>A
c.1343G>A (p.Trp448Ter)
c.1424G>A (p.Trp475Ter)
c.1406G>A (p.Trp469Ter)
c.1304G>A (p.Trp435Ter)
n.1332-537C>T
c.1484G>A (p.Trp495Ter)
c.1586G>A (p.Trp529Ter)
c.1526G>A (p.Trp509Ter)
n.3607-537C>T
n.4043-537C>T
c.1409G>A (p.Trp470Ter)
c.1427G>A (p.Trp476Ter)
c.1184G>A (p.Trp395Ter)
c.1217G>A (p.Trp406Ter)
c.1235G>A (p.Trp412Ter)
2g.127428801G>CCA1859553PROCc.1241G>C (p.Trp414Ser)
c.565G>C
c.1343G>C (p.Trp448Ser)
c.1424G>C (p.Trp475Ser)
c.1406G>C (p.Trp469Ser)
c.1304G>C (p.Trp435Ser)
n.1332-537C>G
c.1484G>C (p.Trp495Ser)
c.1586G>C (p.Trp529Ser)
c.1526G>C (p.Trp509Ser)
n.3607-537C>G
n.4043-537C>G
c.1409G>C (p.Trp470Ser)
c.1427G>C (p.Trp476Ser)
c.1184G>C (p.Trp395Ser)
c.1217G>C (p.Trp406Ser)
c.1235G>C (p.Trp412Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428801G=CA1286884659PROCc.1241G= (p.Trp414=)
c.565G=
c.1343G= (p.Trp448=)
c.1424G= (p.Trp475=)
c.1406G= (p.Trp469=)
c.1304G= (p.Trp435=)
n.1332-537C=
c.1484G= (p.Trp495=)
c.1586G= (p.Trp529=)
c.1526G= (p.Trp509=)
n.3607-537C=
n.4043-537C=
c.1409G= (p.Trp470=)
c.1427G= (p.Trp476=)
c.1184G= (p.Trp395=)
c.1217G= (p.Trp406=)
c.1235G= (p.Trp412=)
2g.127428801G>TCA348406406PROCc.1241G>T (p.Trp414Leu)
c.565G>T
c.1343G>T (p.Trp448Leu)
c.1424G>T (p.Trp475Leu)
c.1406G>T (p.Trp469Leu)
c.1304G>T (p.Trp435Leu)
n.1332-537C>A
c.1484G>T (p.Trp495Leu)
c.1586G>T (p.Trp529Leu)
c.1526G>T (p.Trp509Leu)
n.3607-537C>A
n.4043-537C>A
c.1409G>T (p.Trp470Leu)
c.1427G>T (p.Trp476Leu)
c.1184G>T (p.Trp395Leu)
c.1217G>T (p.Trp406Leu)
c.1235G>T (p.Trp412Leu)
2g.127428802G>ACA348406409PROCc.1242G>A (p.Trp414Ter)
c.566G>A
c.1344G>A (p.Trp448Ter)
c.1425G>A (p.Trp475Ter)
c.1407G>A (p.Trp469Ter)
c.1305G>A (p.Trp435Ter)
n.1332-538C>T
c.1485G>A (p.Trp495Ter)
c.1587G>A (p.Trp529Ter)
c.1527G>A (p.Trp509Ter)
n.3607-538C>T
n.4043-538C>T
c.1410G>A (p.Trp470Ter)
c.1428G>A (p.Trp476Ter)
c.1185G>A (p.Trp395Ter)
c.1218G>A (p.Trp406Ter)
c.1236G>A (p.Trp412Ter)
 ClinVar dbSNP gnomAD v4
2g.127428802G>CCA348406413PROCc.1242G>C (p.Trp414Cys)
c.566G>C
c.1344G>C (p.Trp448Cys)
c.1425G>C (p.Trp475Cys)
c.1407G>C (p.Trp469Cys)
c.1305G>C (p.Trp435Cys)
n.1332-538C>G
c.1485G>C (p.Trp495Cys)
c.1587G>C (p.Trp529Cys)
c.1527G>C (p.Trp509Cys)
n.3607-538C>G
n.4043-538C>G
c.1410G>C (p.Trp470Cys)
c.1428G>C (p.Trp476Cys)
c.1185G>C (p.Trp395Cys)
c.1218G>C (p.Trp406Cys)
c.1236G>C (p.Trp412Cys)
2g.127428802G=CA1286884660PROCc.1242G= (p.Trp414=)
c.566G=
c.1344G= (p.Trp448=)
c.1425G= (p.Trp475=)
c.1407G= (p.Trp469=)
c.1305G= (p.Trp435=)
n.1332-538C=
c.1485G= (p.Trp495=)
c.1587G= (p.Trp529=)
c.1527G= (p.Trp509=)
n.3607-538C=
n.4043-538C=
c.1410G= (p.Trp470=)
c.1428G= (p.Trp476=)
c.1185G= (p.Trp395=)
c.1218G= (p.Trp406=)
c.1236G= (p.Trp412=)
2g.127428802G>TCA348406411PROCc.1242G>T (p.Trp414Cys)
c.566G>T
c.1344G>T (p.Trp448Cys)
c.1425G>T (p.Trp475Cys)
c.1407G>T (p.Trp469Cys)
c.1305G>T (p.Trp435Cys)
n.1332-538C>A
c.1485G>T (p.Trp495Cys)
c.1587G>T (p.Trp529Cys)
c.1527G>T (p.Trp509Cys)
n.3607-538C>A
n.4043-538C>A
c.1410G>T (p.Trp470Cys)
c.1428G>T (p.Trp476Cys)
c.1185G>T (p.Trp395Cys)
c.1218G>T (p.Trp406Cys)
c.1236G>T (p.Trp412Cys)
2g.127428803T>ACA348406415PROCc.1243T>A (p.Phe415Ile)
c.567T>A
c.1345T>A (p.Phe449Ile)
c.1426T>A (p.Phe476Ile)
c.1408T>A (p.Phe470Ile)
c.1306T>A (p.Phe436Ile)
n.1332-539A>T
c.1486T>A (p.Phe496Ile)
c.1588T>A (p.Phe530Ile)
c.1528T>A (p.Phe510Ile)
n.3607-539A>T
n.4043-539A>T
c.1411T>A (p.Phe471Ile)
c.1429T>A (p.Phe477Ile)
c.1186T>A (p.Phe396Ile)
c.1219T>A (p.Phe407Ile)
c.1237T>A (p.Phe413Ile)
2g.127428803T>CCA1859554PROCc.1243T>C (p.Phe415Leu)
c.567T>C
c.1345T>C (p.Phe449Leu)
c.1426T>C (p.Phe476Leu)
c.1408T>C (p.Phe470Leu)
c.1306T>C (p.Phe436Leu)
n.1332-539A>G
c.1486T>C (p.Phe496Leu)
c.1588T>C (p.Phe530Leu)
c.1528T>C (p.Phe510Leu)
n.3607-539A>G
n.4043-539A>G
c.1411T>C (p.Phe471Leu)
c.1429T>C (p.Phe477Leu)
c.1186T>C (p.Phe396Leu)
c.1219T>C (p.Phe407Leu)
c.1237T>C (p.Phe413Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428803T>GCA348406418PROCc.1243T>G (p.Phe415Val)
c.567T>G
c.1345T>G (p.Phe449Val)
c.1426T>G (p.Phe476Val)
c.1408T>G (p.Phe470Val)
c.1306T>G (p.Phe436Val)
n.1332-539A>C
c.1486T>G (p.Phe496Val)
c.1588T>G (p.Phe530Val)
c.1528T>G (p.Phe510Val)
n.3607-539A>C
n.4043-539A>C
c.1411T>G (p.Phe471Val)
c.1429T>G (p.Phe477Val)
c.1186T>G (p.Phe396Val)
c.1219T>G (p.Phe407Val)
c.1237T>G (p.Phe413Val)
 gnomAD v4
2g.127428803T=CA1286884661PROCc.1243T= (p.Phe415=)
c.567T=
c.1345T= (p.Phe449=)
c.1426T= (p.Phe476=)
c.1408T= (p.Phe470=)
c.1306T= (p.Phe436=)
n.1332-539A=
c.1486T= (p.Phe496=)
c.1588T= (p.Phe530=)
c.1528T= (p.Phe510=)
n.3607-539A=
n.4043-539A=
c.1411T= (p.Phe471=)
c.1429T= (p.Phe477=)
c.1186T= (p.Phe396=)
c.1219T= (p.Phe407=)
c.1237T= (p.Phe413=)
2g.127428804T>ACA348406419PROCc.1244T>A (p.Phe415Tyr)
c.568T>A
c.1346T>A (p.Phe449Tyr)
c.1427T>A (p.Phe476Tyr)
c.1409T>A (p.Phe470Tyr)
c.1307T>A (p.Phe436Tyr)
n.1332-540A>T
c.1487T>A (p.Phe496Tyr)
c.1589T>A (p.Phe530Tyr)
c.1529T>A (p.Phe510Tyr)
n.3607-540A>T
n.4043-540A>T
c.1412T>A (p.Phe471Tyr)
c.1430T>A (p.Phe477Tyr)
c.1187T>A (p.Phe396Tyr)
c.1220T>A (p.Phe407Tyr)
c.1238T>A (p.Phe413Tyr)
2g.127428804T>CCA348406421PROCc.1244T>C (p.Phe415Ser)
c.568T>C
c.1346T>C (p.Phe449Ser)
c.1427T>C (p.Phe476Ser)
c.1409T>C (p.Phe470Ser)
c.1307T>C (p.Phe436Ser)
n.1332-540A>G
c.1487T>C (p.Phe496Ser)
c.1589T>C (p.Phe530Ser)
c.1529T>C (p.Phe510Ser)
n.3607-540A>G
n.4043-540A>G
c.1412T>C (p.Phe471Ser)
c.1430T>C (p.Phe477Ser)
c.1187T>C (p.Phe396Ser)
c.1220T>C (p.Phe407Ser)
c.1238T>C (p.Phe413Ser)
2g.127428804T>GCA348406423PROCc.1244T>G (p.Phe415Cys)
c.568T>G
c.1346T>G (p.Phe449Cys)
c.1427T>G (p.Phe476Cys)
c.1409T>G (p.Phe470Cys)
c.1307T>G (p.Phe436Cys)
n.1332-540A>C
c.1487T>G (p.Phe496Cys)
c.1589T>G (p.Phe530Cys)
c.1529T>G (p.Phe510Cys)
n.3607-540A>C
n.4043-540A>C
c.1412T>G (p.Phe471Cys)
c.1430T>G (p.Phe477Cys)
c.1187T>G (p.Phe396Cys)
c.1220T>G (p.Phe407Cys)
c.1238T>G (p.Phe413Cys)
2g.127428805C>ACA348406426PROCc.1245C>A (p.Phe415Leu)
c.569C>A
c.1347C>A (p.Phe449Leu)
c.1428C>A (p.Phe476Leu)
c.1410C>A (p.Phe470Leu)
c.1308C>A (p.Phe436Leu)
n.1332-541G>T
c.1488C>A (p.Phe496Leu)
c.1590C>A (p.Phe530Leu)
c.1530C>A (p.Phe510Leu)
n.3607-541G>T
n.4043-541G>T
c.1413C>A (p.Phe471Leu)
c.1431C>A (p.Phe477Leu)
c.1188C>A (p.Phe396Leu)
c.1221C>A (p.Phe407Leu)
c.1239C>A (p.Phe413Leu)
2g.127428805C>GCA348406428PROCc.1245C>G (p.Phe415Leu)
c.569C>G
c.1347C>G (p.Phe449Leu)
c.1428C>G (p.Phe476Leu)
c.1410C>G (p.Phe470Leu)
c.1308C>G (p.Phe436Leu)
n.1332-541G>C
c.1488C>G (p.Phe496Leu)
c.1590C>G (p.Phe530Leu)
c.1530C>G (p.Phe510Leu)
n.3607-541G>C
n.4043-541G>C
c.1413C>G (p.Phe471Leu)
c.1431C>G (p.Phe477Leu)
c.1188C>G (p.Phe396Leu)
c.1221C>G (p.Phe407Leu)
c.1239C>G (p.Phe413Leu)
2g.127428805C>TCA428872698PROCc.1245C>T (p.Phe415=)
c.569C>T
c.1347C>T (p.Phe449=)
c.1428C>T (p.Phe476=)
c.1410C>T (p.Phe470=)
c.1308C>T (p.Phe436=)
n.1332-541G>A
c.1488C>T (p.Phe496=)
c.1590C>T (p.Phe530=)
c.1530C>T (p.Phe510=)
n.3607-541G>A
n.4043-541G>A
c.1413C>T (p.Phe471=)
c.1431C>T (p.Phe477=)
c.1188C>T (p.Phe396=)
c.1221C>T (p.Phe407=)
c.1239C>T (p.Phe413=)
2g.127428806C>ACA348406430PROCc.1246C>A (p.Leu416Met)
c.570C>A
c.1348C>A (p.Leu450Met)
c.1429C>A (p.Leu477Met)
c.1411C>A (p.Leu471Met)
c.1309C>A (p.Leu437Met)
n.1332-542G>T
c.1489C>A (p.Leu497Met)
c.1591C>A (p.Leu531Met)
c.1531C>A (p.Leu511Met)
n.3607-542G>T
n.4043-542G>T
c.1414C>A (p.Leu472Met)
c.1432C>A (p.Leu478Met)
c.1189C>A (p.Leu397Met)
c.1222C>A (p.Leu408Met)
c.1240C>A (p.Leu414Met)
2g.127428806C>GCA348406431PROCc.1246C>G (p.Leu416Val)
c.570C>G
c.1348C>G (p.Leu450Val)
c.1429C>G (p.Leu477Val)
c.1411C>G (p.Leu471Val)
c.1309C>G (p.Leu437Val)
n.1332-542G>C
c.1489C>G (p.Leu497Val)
c.1591C>G (p.Leu531Val)
c.1531C>G (p.Leu511Val)
n.3607-542G>C
n.4043-542G>C
c.1414C>G (p.Leu472Val)
c.1432C>G (p.Leu478Val)
c.1189C>G (p.Leu397Val)
c.1222C>G (p.Leu408Val)
c.1240C>G (p.Leu414Val)
2g.127428806C>TCA428872705PROCc.1246C>T (p.Leu416=)
c.570C>T
c.1348C>T (p.Leu450=)
c.1429C>T (p.Leu477=)
c.1411C>T (p.Leu471=)
c.1309C>T (p.Leu437=)
n.1332-542G>A
c.1489C>T (p.Leu497=)
c.1591C>T (p.Leu531=)
c.1531C>T (p.Leu511=)
n.3607-542G>A
n.4043-542G>A
c.1414C>T (p.Leu472=)
c.1432C>T (p.Leu478=)
c.1189C>T (p.Leu397=)
c.1222C>T (p.Leu408=)
c.1240C>T (p.Leu414=)
 gnomAD v4
2g.127428807T>ACA348406434PROCc.1247T>A (p.Leu416Gln)
c.571T>A
c.1349T>A (p.Leu450Gln)
c.1430T>A (p.Leu477Gln)
c.1412T>A (p.Leu471Gln)
c.1310T>A (p.Leu437Gln)
n.1332-543A>T
c.1490T>A (p.Leu497Gln)
c.1592T>A (p.Leu531Gln)
c.1532T>A (p.Leu511Gln)
n.3607-543A>T
n.4043-543A>T
c.1415T>A (p.Leu472Gln)
c.1433T>A (p.Leu478Gln)
c.1190T>A (p.Leu397Gln)
c.1223T>A (p.Leu408Gln)
c.1241T>A (p.Leu414Gln)
2g.127428807T>CCA348406436PROCc.1247T>C (p.Leu416Pro)
c.571T>C
c.1349T>C (p.Leu450Pro)
c.1430T>C (p.Leu477Pro)
c.1412T>C (p.Leu471Pro)
c.1310T>C (p.Leu437Pro)
n.1332-543A>G
c.1490T>C (p.Leu497Pro)
c.1592T>C (p.Leu531Pro)
c.1532T>C (p.Leu511Pro)
n.3607-543A>G
n.4043-543A>G
c.1415T>C (p.Leu472Pro)
c.1433T>C (p.Leu478Pro)
c.1190T>C (p.Leu397Pro)
c.1223T>C (p.Leu408Pro)
c.1241T>C (p.Leu414Pro)
2g.127428807T>GCA348406437PROCc.1247T>G (p.Leu416Arg)
c.571T>G
c.1349T>G (p.Leu450Arg)
c.1430T>G (p.Leu477Arg)
c.1412T>G (p.Leu471Arg)
c.1310T>G (p.Leu437Arg)
n.1332-543A>C
c.1490T>G (p.Leu497Arg)
c.1592T>G (p.Leu531Arg)
c.1532T>G (p.Leu511Arg)
n.3607-543A>C
n.4043-543A>C
c.1415T>G (p.Leu472Arg)
c.1433T>G (p.Leu478Arg)
c.1190T>G (p.Leu397Arg)
c.1223T>G (p.Leu408Arg)
c.1241T>G (p.Leu414Arg)
2g.127428808G>ACA428872714PROCc.1248G>A (p.Leu416=)
c.572G>A
c.1350G>A (p.Leu450=)
c.1431G>A (p.Leu477=)
c.1413G>A (p.Leu471=)
c.1311G>A (p.Leu437=)
n.1332-544C>T
c.1491G>A (p.Leu497=)
c.1593G>A (p.Leu531=)
c.1533G>A (p.Leu511=)
n.3607-544C>T
n.4043-544C>T
c.1416G>A (p.Leu472=)
c.1434G>A (p.Leu478=)
c.1191G>A (p.Leu397=)
c.1224G>A (p.Leu408=)
c.1242G>A (p.Leu414=)
2g.127428808G>CCA428872717PROCc.1248G>C (p.Leu416=)
c.572G>C
c.1350G>C (p.Leu450=)
c.1431G>C (p.Leu477=)
c.1413G>C (p.Leu471=)
c.1311G>C (p.Leu437=)
n.1332-544C>G
c.1491G>C (p.Leu497=)
c.1593G>C (p.Leu531=)
c.1533G>C (p.Leu511=)
n.3607-544C>G
n.4043-544C>G
c.1416G>C (p.Leu472=)
c.1434G>C (p.Leu478=)
c.1191G>C (p.Leu397=)
c.1224G>C (p.Leu408=)
c.1242G>C (p.Leu414=)
 gnomAD v4
2g.127428808G=CA1286884662PROCc.1248G= (p.Leu416=)
c.572G=
c.1350G= (p.Leu450=)
c.1431G= (p.Leu477=)
c.1413G= (p.Leu471=)
c.1311G= (p.Leu437=)
n.1332-544C=
c.1491G= (p.Leu497=)
c.1593G= (p.Leu531=)
c.1533G= (p.Leu511=)
n.3607-544C=
n.4043-544C=
c.1416G= (p.Leu472=)
c.1434G= (p.Leu478=)
c.1191G= (p.Leu397=)
c.1224G= (p.Leu408=)
c.1242G= (p.Leu414=)
2g.127428808G>TCA428872712PROCc.1248G>T (p.Leu416=)
c.572G>T
c.1350G>T (p.Leu450=)
c.1431G>T (p.Leu477=)
c.1413G>T (p.Leu471=)
c.1311G>T (p.Leu437=)
n.1332-544C>A
c.1491G>T (p.Leu497=)
c.1593G>T (p.Leu531=)
c.1533G>T (p.Leu511=)
n.3607-544C>A
n.4043-544C>A
c.1416G>T (p.Leu472=)
c.1434G>T (p.Leu478=)
c.1191G>T (p.Leu397=)
c.1224G>T (p.Leu408=)
c.1242G>T (p.Leu414=)
 ClinVar dbSNP gnomAD v4
2g.127428809G>ACA348406443PROCc.1249G>A (p.Val417Met)
c.573G>A
c.1351G>A (p.Val451Met)
c.1432G>A (p.Val478Met)
c.1414G>A (p.Val472Met)
c.1312G>A (p.Val438Met)
n.1332-545C>T
c.1492G>A (p.Val498Met)
c.1594G>A (p.Val532Met)
c.1534G>A (p.Val512Met)
n.3607-545C>T
n.4043-545C>T
c.1417G>A (p.Val473Met)
c.1435G>A (p.Val479Met)
c.1192G>A (p.Val398Met)
c.1225G>A (p.Val409Met)
c.1243G>A (p.Val415Met)
 ClinVar gnomAD v4
2g.127428809G>CCA1859555PROCc.1249G>C (p.Val417Leu)
c.573G>C
c.1351G>C (p.Val451Leu)
c.1432G>C (p.Val478Leu)
c.1414G>C (p.Val472Leu)
c.1312G>C (p.Val438Leu)
n.1332-545C>G
c.1492G>C (p.Val498Leu)
c.1594G>C (p.Val532Leu)
c.1534G>C (p.Val512Leu)
n.3607-545C>G
n.4043-545C>G
c.1417G>C (p.Val473Leu)
c.1435G>C (p.Val479Leu)
c.1192G>C (p.Val398Leu)
c.1225G>C (p.Val409Leu)
c.1243G>C (p.Val415Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428809G=CA1286884663PROCc.1249G= (p.Val417=)
c.573G=
c.1351G= (p.Val451=)
c.1432G= (p.Val478=)
c.1414G= (p.Val472=)
c.1312G= (p.Val438=)
n.1332-545C=
c.1492G= (p.Val498=)
c.1594G= (p.Val532=)
c.1534G= (p.Val512=)
n.3607-545C=
n.4043-545C=
c.1417G= (p.Val473=)
c.1435G= (p.Val479=)
c.1192G= (p.Val398=)
c.1225G= (p.Val409=)
c.1243G= (p.Val415=)
2g.127428809G>TCA348406440PROCc.1249G>T (p.Val417Leu)
c.573G>T
c.1351G>T (p.Val451Leu)
c.1432G>T (p.Val478Leu)
c.1414G>T (p.Val472Leu)
c.1312G>T (p.Val438Leu)
n.1332-545C>A
c.1492G>T (p.Val498Leu)
c.1594G>T (p.Val532Leu)
c.1534G>T (p.Val512Leu)
n.3607-545C>A
n.4043-545C>A
c.1417G>T (p.Val473Leu)
c.1435G>T (p.Val479Leu)
c.1192G>T (p.Val398Leu)
c.1225G>T (p.Val409Leu)
c.1243G>T (p.Val415Leu)
2g.127428810T>ACA348406444PROCc.1250T>A (p.Val417Glu)
c.574T>A
c.1352T>A (p.Val451Glu)
c.1433T>A (p.Val478Glu)
c.1415T>A (p.Val472Glu)
c.1313T>A (p.Val438Glu)
n.1332-546A>T
c.1493T>A (p.Val498Glu)
c.1595T>A (p.Val532Glu)
c.1535T>A (p.Val512Glu)
n.3607-546A>T
n.4043-546A>T
c.1418T>A (p.Val473Glu)
c.1436T>A (p.Val479Glu)
c.1193T>A (p.Val398Glu)
c.1226T>A (p.Val409Glu)
c.1244T>A (p.Val415Glu)
2g.127428810T>CCA348406446PROCc.1250T>C (p.Val417Ala)
c.574T>C
c.1352T>C (p.Val451Ala)
c.1433T>C (p.Val478Ala)
c.1415T>C (p.Val472Ala)
c.1313T>C (p.Val438Ala)
n.1332-546A>G
c.1493T>C (p.Val498Ala)
c.1595T>C (p.Val532Ala)
c.1535T>C (p.Val512Ala)
n.3607-546A>G
n.4043-546A>G
c.1418T>C (p.Val473Ala)
c.1436T>C (p.Val479Ala)
c.1193T>C (p.Val398Ala)
c.1226T>C (p.Val409Ala)
c.1244T>C (p.Val415Ala)
2g.127428810T>GCA348406447PROCc.1250T>G (p.Val417Gly)
c.574T>G
c.1352T>G (p.Val451Gly)
c.1433T>G (p.Val478Gly)
c.1415T>G (p.Val472Gly)
c.1313T>G (p.Val438Gly)
n.1332-546A>C
c.1493T>G (p.Val498Gly)
c.1595T>G (p.Val532Gly)
c.1535T>G (p.Val512Gly)
n.3607-546A>C
n.4043-546A>C
c.1418T>G (p.Val473Gly)
c.1436T>G (p.Val479Gly)
c.1193T>G (p.Val398Gly)
c.1226T>G (p.Val409Gly)
c.1244T>G (p.Val415Gly)
2g.127428810dupCA2586969924PROCc.1250dup (p.Leu419ProfsTer6)
c.574dup
c.1352dup (p.Leu453ProfsTer6)
c.1433dup (p.Leu480ProfsTer6)
c.1415dup (p.Leu474ProfsTer6)
c.1313dup (p.Leu440ProfsTer6)
n.1332-546dup
c.1493dup (p.Leu500ProfsTer6)
c.1595dup (p.Leu534ProfsTer6)
c.1535dup (p.Leu514ProfsTer6)
n.3607-546dup
n.4043-546dup
c.1418dup (p.Leu475ProfsTer6)
c.1436dup (p.Leu481ProfsTer6)
c.1193dup (p.Leu400ProfsTer6)
c.1226dup (p.Leu411ProfsTer6)
c.1244dup (p.Leu417ProfsTer6)
2g.127428811G>ACA428872736PROCc.1251G>A (p.Val417=)
c.575G>A
c.1353G>A (p.Val451=)
c.1434G>A (p.Val478=)
c.1416G>A (p.Val472=)
c.1314G>A (p.Val438=)
n.1332-547C>T
c.1494G>A (p.Val498=)
c.1596G>A (p.Val532=)
c.1536G>A (p.Val512=)
n.3607-547C>T
n.4043-547C>T
c.1419G>A (p.Val473=)
c.1437G>A (p.Val479=)
c.1194G>A (p.Val398=)
c.1227G>A (p.Val409=)
c.1245G>A (p.Val415=)
2g.127428811G>CCA428872731PROCc.1251G>C (p.Val417=)
c.575G>C
c.1353G>C (p.Val451=)
c.1434G>C (p.Val478=)
c.1416G>C (p.Val472=)
c.1314G>C (p.Val438=)
n.1332-547C>G
c.1494G>C (p.Val498=)
c.1596G>C (p.Val532=)
c.1536G>C (p.Val512=)
n.3607-547C>G
n.4043-547C>G
c.1419G>C (p.Val473=)
c.1437G>C (p.Val479=)
c.1194G>C (p.Val398=)
c.1227G>C (p.Val409=)
c.1245G>C (p.Val415=)
2g.127428811G>TCA428872733PROCc.1251G>T (p.Val417=)
c.575G>T
c.1353G>T (p.Val451=)
c.1434G>T (p.Val478=)
c.1416G>T (p.Val472=)
c.1314G>T (p.Val438=)
n.1332-547C>A
c.1494G>T (p.Val498=)
c.1596G>T (p.Val532=)
c.1536G>T (p.Val512=)
n.3607-547C>A
n.4043-547C>A
c.1419G>T (p.Val473=)
c.1437G>T (p.Val479=)
c.1194G>T (p.Val398=)
c.1227G>T (p.Val409=)
c.1245G>T (p.Val415=)
2g.127428812G>ACA348406450PROCc.1252G>A (p.Gly418Ser)
c.576G>A
c.1354G>A (p.Gly452Ser)
c.1435G>A (p.Gly479Ser)
c.1417G>A (p.Gly473Ser)
c.1315G>A (p.Gly439Ser)
n.1332-548C>T
c.1495G>A (p.Gly499Ser)
c.1597G>A (p.Gly533Ser)
c.1537G>A (p.Gly513Ser)
n.3607-548C>T
n.4043-548C>T
c.1420G>A (p.Gly474Ser)
c.1438G>A (p.Gly480Ser)
c.1195G>A (p.Gly399Ser)
c.1228G>A (p.Gly410Ser)
c.1246G>A (p.Gly416Ser)
2g.127428812G>CCA348406452PROCc.1252G>C (p.Gly418Arg)
c.576G>C
c.1354G>C (p.Gly452Arg)
c.1435G>C (p.Gly479Arg)
c.1417G>C (p.Gly473Arg)
c.1315G>C (p.Gly439Arg)
n.1332-548C>G
c.1495G>C (p.Gly499Arg)
c.1597G>C (p.Gly533Arg)
c.1537G>C (p.Gly513Arg)
n.3607-548C>G
n.4043-548C>G
c.1420G>C (p.Gly474Arg)
c.1438G>C (p.Gly480Arg)
c.1195G>C (p.Gly399Arg)
c.1228G>C (p.Gly410Arg)
c.1246G>C (p.Gly416Arg)
2g.127428812G>TCA348406453PROCc.1252G>T (p.Gly418Cys)
c.576G>T
c.1354G>T (p.Gly452Cys)
c.1435G>T (p.Gly479Cys)
c.1417G>T (p.Gly473Cys)
c.1315G>T (p.Gly439Cys)
n.1332-548C>A
c.1495G>T (p.Gly499Cys)
c.1597G>T (p.Gly533Cys)
c.1537G>T (p.Gly513Cys)
n.3607-548C>A
n.4043-548C>A
c.1420G>T (p.Gly474Cys)
c.1438G>T (p.Gly480Cys)
c.1195G>T (p.Gly399Cys)
c.1228G>T (p.Gly410Cys)
c.1246G>T (p.Gly416Cys)
2g.127428813G>ACA348406455PROCc.1253G>A (p.Gly418Asp)
c.577G>A
c.1355G>A (p.Gly452Asp)
c.1436G>A (p.Gly479Asp)
c.1418G>A (p.Gly473Asp)
c.1316G>A (p.Gly439Asp)
n.1332-549C>T
c.1496G>A (p.Gly499Asp)
c.1598G>A (p.Gly533Asp)
c.1538G>A (p.Gly513Asp)
n.3607-549C>T
n.4043-549C>T
c.1421G>A (p.Gly474Asp)
c.1439G>A (p.Gly480Asp)
c.1196G>A (p.Gly399Asp)
c.1229G>A (p.Gly410Asp)
c.1247G>A (p.Gly416Asp)
2g.127428813G>CCA348406457PROCc.1253G>C (p.Gly418Ala)
c.577G>C
c.1355G>C (p.Gly452Ala)
c.1436G>C (p.Gly479Ala)
c.1418G>C (p.Gly473Ala)
c.1316G>C (p.Gly439Ala)
n.1332-549C>G
c.1496G>C (p.Gly499Ala)
c.1598G>C (p.Gly533Ala)
c.1538G>C (p.Gly513Ala)
n.3607-549C>G
n.4043-549C>G
c.1421G>C (p.Gly474Ala)
c.1439G>C (p.Gly480Ala)
c.1196G>C (p.Gly399Ala)
c.1229G>C (p.Gly410Ala)
c.1247G>C (p.Gly416Ala)
2g.127428813G>TCA348406459PROCc.1253G>T (p.Gly418Val)
c.577G>T
c.1355G>T (p.Gly452Val)
c.1436G>T (p.Gly479Val)
c.1418G>T (p.Gly473Val)
c.1316G>T (p.Gly439Val)
n.1332-549C>A
c.1496G>T (p.Gly499Val)
c.1598G>T (p.Gly533Val)
c.1538G>T (p.Gly513Val)
n.3607-549C>A
n.4043-549C>A
c.1421G>T (p.Gly474Val)
c.1439G>T (p.Gly480Val)
c.1196G>T (p.Gly399Val)
c.1229G>T (p.Gly410Val)
c.1247G>T (p.Gly416Val)
2g.127428814C>ACA428872752PROCc.1254C>A (p.Gly418=)
c.578C>A
c.1356C>A (p.Gly452=)
c.1437C>A (p.Gly479=)
c.1419C>A (p.Gly473=)
c.1317C>A (p.Gly439=)
n.1332-550G>T
c.1497C>A (p.Gly499=)
c.1599C>A (p.Gly533=)
c.1539C>A (p.Gly513=)
n.3607-550G>T
n.4043-550G>T
c.1422C>A (p.Gly474=)
c.1440C>A (p.Gly480=)
c.1197C>A (p.Gly399=)
c.1230C>A (p.Gly410=)
c.1248C>A (p.Gly416=)
2g.127428814C=CA1286884664PROCc.1254C= (p.Gly418=)
c.578C=
c.1356C= (p.Gly452=)
c.1437C= (p.Gly479=)
c.1419C= (p.Gly473=)
c.1317C= (p.Gly439=)
n.1332-550G=
c.1497C= (p.Gly499=)
c.1599C= (p.Gly533=)
c.1539C= (p.Gly513=)
n.3607-550G=
n.4043-550G=
c.1422C= (p.Gly474=)
c.1440C= (p.Gly480=)
c.1197C= (p.Gly399=)
c.1230C= (p.Gly410=)
c.1248C= (p.Gly416=)
2g.127428814C>GCA428872758PROCc.1254C>G (p.Gly418=)
c.578C>G
c.1356C>G (p.Gly452=)
c.1437C>G (p.Gly479=)
c.1419C>G (p.Gly473=)
c.1317C>G (p.Gly439=)
n.1332-550G>C
c.1497C>G (p.Gly499=)
c.1599C>G (p.Gly533=)
c.1539C>G (p.Gly513=)
n.3607-550G>C
n.4043-550G>C
c.1422C>G (p.Gly474=)
c.1440C>G (p.Gly480=)
c.1197C>G (p.Gly399=)
c.1230C>G (p.Gly410=)
c.1248C>G (p.Gly416=)
2g.127428814C>TCA1859556PROCc.1254C>T (p.Gly418=)
c.578C>T
c.1356C>T (p.Gly452=)
c.1437C>T (p.Gly479=)
c.1419C>T (p.Gly473=)
c.1317C>T (p.Gly439=)
n.1332-550G>A
c.1497C>T (p.Gly499=)
c.1599C>T (p.Gly533=)
c.1539C>T (p.Gly513=)
n.3607-550G>A
n.4043-550G>A
c.1422C>T (p.Gly474=)
c.1440C>T (p.Gly480=)
c.1197C>T (p.Gly399=)
c.1230C>T (p.Gly410=)
c.1248C>T (p.Gly416=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127428815C>ACA348406461PROCc.1255C>A (p.Leu419Met)
c.579C>A
c.1357C>A (p.Leu453Met)
c.1438C>A (p.Leu480Met)
c.1420C>A (p.Leu474Met)
c.1318C>A (p.Leu440Met)
n.1332-551G>T
c.1498C>A (p.Leu500Met)
c.1600C>A (p.Leu534Met)
c.1540C>A (p.Leu514Met)
n.3607-551G>T
n.4043-551G>T
c.1423C>A (p.Leu475Met)
c.1441C>A (p.Leu481Met)
c.1198C>A (p.Leu400Met)
c.1231C>A (p.Leu411Met)
c.1249C>A (p.Leu417Met)
2g.127428815C>GCA348406463PROCc.1255C>G (p.Leu419Val)
c.579C>G
c.1357C>G (p.Leu453Val)
c.1438C>G (p.Leu480Val)
c.1420C>G (p.Leu474Val)
c.1318C>G (p.Leu440Val)
n.1332-551G>C
c.1498C>G (p.Leu500Val)
c.1600C>G (p.Leu534Val)
c.1540C>G (p.Leu514Val)
n.3607-551G>C
n.4043-551G>C
c.1423C>G (p.Leu475Val)
c.1441C>G (p.Leu481Val)
c.1198C>G (p.Leu400Val)
c.1231C>G (p.Leu411Val)
c.1249C>G (p.Leu417Val)
2g.127428815C>TCA428872765PROCc.1255C>T (p.Leu419=)
c.579C>T
c.1357C>T (p.Leu453=)
c.1438C>T (p.Leu480=)
c.1420C>T (p.Leu474=)
c.1318C>T (p.Leu440=)
n.1332-551G>A
c.1498C>T (p.Leu500=)
c.1600C>T (p.Leu534=)
c.1540C>T (p.Leu514=)
n.3607-551G>A
n.4043-551G>A
c.1423C>T (p.Leu475=)
c.1441C>T (p.Leu481=)
c.1198C>T (p.Leu400=)
c.1231C>T (p.Leu411=)
c.1249C>T (p.Leu417=)
2g.127428816T>ACA348406466PROCc.1256T>A (p.Leu419Gln)
c.580T>A
c.1358T>A (p.Leu453Gln)
c.1439T>A (p.Leu480Gln)
c.1421T>A (p.Leu474Gln)
c.1319T>A (p.Leu440Gln)
n.1332-552A>T
c.1499T>A (p.Leu500Gln)
c.1601T>A (p.Leu534Gln)
c.1541T>A (p.Leu514Gln)
n.3607-552A>T
n.4043-552A>T
c.1424T>A (p.Leu475Gln)
c.1442T>A (p.Leu481Gln)
c.1199T>A (p.Leu400Gln)
c.1232T>A (p.Leu411Gln)
c.1250T>A (p.Leu417Gln)
2g.127428816T>CCA348406469PROCc.1256T>C (p.Leu419Pro)
c.580T>C
c.1358T>C (p.Leu453Pro)
c.1439T>C (p.Leu480Pro)
c.1421T>C (p.Leu474Pro)
c.1319T>C (p.Leu440Pro)
n.1332-552A>G
c.1499T>C (p.Leu500Pro)
c.1601T>C (p.Leu534Pro)
c.1541T>C (p.Leu514Pro)
n.3607-552A>G
n.4043-552A>G
c.1424T>C (p.Leu475Pro)
c.1442T>C (p.Leu481Pro)
c.1199T>C (p.Leu400Pro)
c.1232T>C (p.Leu411Pro)
c.1250T>C (p.Leu417Pro)
2g.127428816T>GCA348406467PROCc.1256T>G (p.Leu419Arg)
c.580T>G
c.1358T>G (p.Leu453Arg)
c.1439T>G (p.Leu480Arg)
c.1421T>G (p.Leu474Arg)
c.1319T>G (p.Leu440Arg)
n.1332-552A>C
c.1499T>G (p.Leu500Arg)
c.1601T>G (p.Leu534Arg)
c.1541T>G (p.Leu514Arg)
n.3607-552A>C
n.4043-552A>C
c.1424T>G (p.Leu475Arg)
c.1442T>G (p.Leu481Arg)
c.1199T>G (p.Leu400Arg)
c.1232T>G (p.Leu411Arg)
c.1250T>G (p.Leu417Arg)
2g.127428817G>ACA428872775PROCc.1257G>A (p.Leu419=)
c.581G>A
c.1359G>A (p.Leu453=)
c.1440G>A (p.Leu480=)
c.1422G>A (p.Leu474=)
c.1320G>A (p.Leu440=)
n.1332-553C>T
c.1500G>A (p.Leu500=)
c.1602G>A (p.Leu534=)
c.1542G>A (p.Leu514=)
n.3607-553C>T
n.4043-553C>T
c.1425G>A (p.Leu475=)
c.1443G>A (p.Leu481=)
c.1200G>A (p.Leu400=)
c.1233G>A (p.Leu411=)
c.1251G>A (p.Leu417=)
2g.127428817G>CCA428872777PROCc.1257G>C (p.Leu419=)
c.581G>C
c.1359G>C (p.Leu453=)
c.1440G>C (p.Leu480=)
c.1422G>C (p.Leu474=)
c.1320G>C (p.Leu440=)
n.1332-553C>G
c.1500G>C (p.Leu500=)
c.1602G>C (p.Leu534=)
c.1542G>C (p.Leu514=)
n.3607-553C>G
n.4043-553C>G
c.1425G>C (p.Leu475=)
c.1443G>C (p.Leu481=)
c.1200G>C (p.Leu400=)
c.1233G>C (p.Leu411=)
c.1251G>C (p.Leu417=)
2g.127428817G>TCA428872781PROCc.1257G>T (p.Leu419=)
c.581G>T
c.1359G>T (p.Leu453=)
c.1440G>T (p.Leu480=)
c.1422G>T (p.Leu474=)
c.1320G>T (p.Leu440=)
n.1332-553C>A
c.1500G>T (p.Leu500=)
c.1602G>T (p.Leu534=)
c.1542G>T (p.Leu514=)
n.3607-553C>A
n.4043-553C>A
c.1425G>T (p.Leu475=)
c.1443G>T (p.Leu481=)
c.1200G>T (p.Leu400=)
c.1233G>T (p.Leu411=)
c.1251G>T (p.Leu417=)
2g.127428818G>ACA348406471PROCc.1258G>A (p.Val420Met)
c.582G>A
c.1360G>A (p.Val454Met)
c.1441G>A (p.Val481Met)
c.1423G>A (p.Val475Met)
c.1321G>A (p.Val441Met)
n.1332-554C>T
c.1501G>A (p.Val501Met)
c.1603G>A (p.Val535Met)
c.1543G>A (p.Val515Met)
n.3607-554C>T
n.4043-554C>T
c.1426G>A (p.Val476Met)
c.1444G>A (p.Val482Met)
c.1201G>A (p.Val401Met)
c.1234G>A (p.Val412Met)
c.1252G>A (p.Val418Met)
2g.127428818G>CCA348406473PROCc.1258G>C (p.Val420Leu)
c.582G>C
c.1360G>C (p.Val454Leu)
c.1441G>C (p.Val481Leu)
c.1423G>C (p.Val475Leu)
c.1321G>C (p.Val441Leu)
n.1332-554C>G
c.1501G>C (p.Val501Leu)
c.1603G>C (p.Val535Leu)
c.1543G>C (p.Val515Leu)
n.3607-554C>G
n.4043-554C>G
c.1426G>C (p.Val476Leu)
c.1444G>C (p.Val482Leu)
c.1201G>C (p.Val401Leu)
c.1234G>C (p.Val412Leu)
c.1252G>C (p.Val418Leu)
2g.127428818G=CA1286884665PROCc.1258G= (p.Val420=)
c.582G=
c.1360G= (p.Val454=)
c.1441G= (p.Val481=)
c.1423G= (p.Val475=)
c.1321G= (p.Val441=)
n.1332-554C=
c.1501G= (p.Val501=)
c.1603G= (p.Val535=)
c.1543G= (p.Val515=)
n.3607-554C=
n.4043-554C=
c.1426G= (p.Val476=)
c.1444G= (p.Val482=)
c.1201G= (p.Val401=)
c.1234G= (p.Val412=)
c.1252G= (p.Val418=)
2g.127428818G>TCA55351436PROCc.1258G>T (p.Val420Leu)
c.582G>T
c.1360G>T (p.Val454Leu)
c.1441G>T (p.Val481Leu)
c.1423G>T (p.Val475Leu)
c.1321G>T (p.Val441Leu)
n.1332-554C>A
c.1501G>T (p.Val501Leu)
c.1603G>T (p.Val535Leu)
c.1543G>T (p.Val515Leu)
n.3607-554C>A
n.4043-554C>A
c.1426G>T (p.Val476Leu)
c.1444G>T (p.Val482Leu)
c.1201G>T (p.Val401Leu)
c.1234G>T (p.Val412Leu)
c.1252G>T (p.Val418Leu)
 dbSNP gnomAD v2
2g.127428819T>ACA1859557PROCc.1259T>A (p.Val420Glu)
c.583T>A
c.1361T>A (p.Val454Glu)
c.1442T>A (p.Val481Glu)
c.1424T>A (p.Val475Glu)
c.1322T>A (p.Val441Glu)
n.1332-555A>T
c.1502T>A (p.Val501Glu)
c.1604T>A (p.Val535Glu)
c.1544T>A (p.Val515Glu)
n.3607-555A>T
n.4043-555A>T
c.1427T>A (p.Val476Glu)
c.1445T>A (p.Val482Glu)
c.1202T>A (p.Val401Glu)
c.1235T>A (p.Val412Glu)
c.1253T>A (p.Val418Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428819T>CCA348406476PROCc.1259T>C (p.Val420Ala)
c.583T>C
c.1361T>C (p.Val454Ala)
c.1442T>C (p.Val481Ala)
c.1424T>C (p.Val475Ala)
c.1322T>C (p.Val441Ala)
n.1332-555A>G
c.1502T>C (p.Val501Ala)
c.1604T>C (p.Val535Ala)
c.1544T>C (p.Val515Ala)
n.3607-555A>G
n.4043-555A>G
c.1427T>C (p.Val476Ala)
c.1445T>C (p.Val482Ala)
c.1202T>C (p.Val401Ala)
c.1235T>C (p.Val412Ala)
c.1253T>C (p.Val418Ala)
2g.127428819T>GCA348406478PROCc.1259T>G (p.Val420Gly)
c.583T>G
c.1361T>G (p.Val454Gly)
c.1442T>G (p.Val481Gly)
c.1424T>G (p.Val475Gly)
c.1322T>G (p.Val441Gly)
n.1332-555A>C
c.1502T>G (p.Val501Gly)
c.1604T>G (p.Val535Gly)
c.1544T>G (p.Val515Gly)
n.3607-555A>C
n.4043-555A>C
c.1427T>G (p.Val476Gly)
c.1445T>G (p.Val482Gly)
c.1202T>G (p.Val401Gly)
c.1235T>G (p.Val412Gly)
c.1253T>G (p.Val418Gly)
2g.127428819T=CA1286884666PROCc.1259T= (p.Val420=)
c.583T=
c.1361T= (p.Val454=)
c.1442T= (p.Val481=)
c.1424T= (p.Val475=)
c.1322T= (p.Val441=)
n.1332-555A=
c.1502T= (p.Val501=)
c.1604T= (p.Val535=)
c.1544T= (p.Val515=)
n.3607-555A=
n.4043-555A=
c.1427T= (p.Val476=)
c.1445T= (p.Val482=)
c.1202T= (p.Val401=)
c.1235T= (p.Val412=)
c.1253T= (p.Val418=)
2g.127428820G>ACA428872799PROCc.1260G>A (p.Val420=)
c.584G>A
c.1362G>A (p.Val454=)
c.1443G>A (p.Val481=)
c.1425G>A (p.Val475=)
c.1323G>A (p.Val441=)
n.1332-556C>T
c.1503G>A (p.Val501=)
c.1605G>A (p.Val535=)
c.1545G>A (p.Val515=)
n.3607-556C>T
n.4043-556C>T
c.1428G>A (p.Val476=)
c.1446G>A (p.Val482=)
c.1203G>A (p.Val401=)
c.1236G>A (p.Val412=)
c.1254G>A (p.Val418=)
 ClinVar
2g.127428820G>CCA428872801PROCc.1260G>C (p.Val420=)
c.584G>C
c.1362G>C (p.Val454=)
c.1443G>C (p.Val481=)
c.1425G>C (p.Val475=)
c.1323G>C (p.Val441=)
n.1332-556C>G
c.1503G>C (p.Val501=)
c.1605G>C (p.Val535=)
c.1545G>C (p.Val515=)
n.3607-556C>G
n.4043-556C>G
c.1428G>C (p.Val476=)
c.1446G>C (p.Val482=)
c.1203G>C (p.Val401=)
c.1236G>C (p.Val412=)
c.1254G>C (p.Val418=)
2g.127428820G>TCA428872803PROCc.1260G>T (p.Val420=)
c.584G>T
c.1362G>T (p.Val454=)
c.1443G>T (p.Val481=)
c.1425G>T (p.Val475=)
c.1323G>T (p.Val441=)
n.1332-556C>A
c.1503G>T (p.Val501=)
c.1605G>T (p.Val535=)
c.1545G>T (p.Val515=)
n.3607-556C>A
n.4043-556C>A
c.1428G>T (p.Val476=)
c.1446G>T (p.Val482=)
c.1203G>T (p.Val401=)
c.1236G>T (p.Val412=)
c.1254G>T (p.Val418=)
2g.127428821A=CA1286884667PROCc.1261A= (p.Ser421=)
c.585A=
c.1363A= (p.Ser455=)
c.1444A= (p.Ser482=)
c.1426A= (p.Ser476=)
c.1324A= (p.Ser442=)
n.1332-557T=
c.1504A= (p.Ser502=)
c.1606A= (p.Ser536=)
c.1546A= (p.Ser516=)
n.3607-557T=
n.4043-557T=
c.1429A= (p.Ser477=)
c.1447A= (p.Ser483=)
c.1204A= (p.Ser402=)
c.1237A= (p.Ser413=)
c.1255A= (p.Ser419=)
2g.127428821A>CCA348406480PROCc.1261A>C (p.Ser421Arg)
c.585A>C
c.1363A>C (p.Ser455Arg)
c.1444A>C (p.Ser482Arg)
c.1426A>C (p.Ser476Arg)
c.1324A>C (p.Ser442Arg)
n.1332-557T>G
c.1504A>C (p.Ser502Arg)
c.1606A>C (p.Ser536Arg)
c.1546A>C (p.Ser516Arg)
n.3607-557T>G
n.4043-557T>G
c.1429A>C (p.Ser477Arg)
c.1447A>C (p.Ser483Arg)
c.1204A>C (p.Ser402Arg)
c.1237A>C (p.Ser413Arg)
c.1255A>C (p.Ser419Arg)
2g.127428821A>GCA1859558PROCc.1261A>G (p.Ser421Gly)
c.585A>G
c.1363A>G (p.Ser455Gly)
c.1444A>G (p.Ser482Gly)
c.1426A>G (p.Ser476Gly)
c.1324A>G (p.Ser442Gly)
n.1332-557T>C
c.1504A>G (p.Ser502Gly)
c.1606A>G (p.Ser536Gly)
c.1546A>G (p.Ser516Gly)
n.3607-557T>C
n.4043-557T>C
c.1429A>G (p.Ser477Gly)
c.1447A>G (p.Ser483Gly)
c.1204A>G (p.Ser402Gly)
c.1237A>G (p.Ser413Gly)
c.1255A>G (p.Ser419Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428821A>TCA348406483PROCc.1261A>T (p.Ser421Cys)
c.585A>T
c.1363A>T (p.Ser455Cys)
c.1444A>T (p.Ser482Cys)
c.1426A>T (p.Ser476Cys)
c.1324A>T (p.Ser442Cys)
n.1332-557T>A
c.1504A>T (p.Ser502Cys)
c.1606A>T (p.Ser536Cys)
c.1546A>T (p.Ser516Cys)
n.3607-557T>A
n.4043-557T>A
c.1429A>T (p.Ser477Cys)
c.1447A>T (p.Ser483Cys)
c.1204A>T (p.Ser402Cys)
c.1237A>T (p.Ser413Cys)
c.1255A>T (p.Ser419Cys)
2g.127428822G>ACA348406486PROCc.1262G>A (p.Ser421Asn)
c.586G>A
c.1364G>A (p.Ser455Asn)
c.1445G>A (p.Ser482Asn)
c.1427G>A (p.Ser476Asn)
c.1325G>A (p.Ser442Asn)
n.1332-558C>T
c.1505G>A (p.Ser502Asn)
c.1607G>A (p.Ser536Asn)
c.1547G>A (p.Ser516Asn)
n.3607-558C>T
n.4043-558C>T
c.1430G>A (p.Ser477Asn)
c.1448G>A (p.Ser483Asn)
c.1205G>A (p.Ser402Asn)
c.1238G>A (p.Ser413Asn)
c.1256G>A (p.Ser419Asn)
 ClinVar
2g.127428822G>CCA348406487PROCc.1262G>C (p.Ser421Thr)
c.586G>C
c.1364G>C (p.Ser455Thr)
c.1445G>C (p.Ser482Thr)
c.1427G>C (p.Ser476Thr)
c.1325G>C (p.Ser442Thr)
n.1332-558C>G
c.1505G>C (p.Ser502Thr)
c.1607G>C (p.Ser536Thr)
c.1547G>C (p.Ser516Thr)
n.3607-558C>G
n.4043-558C>G
c.1430G>C (p.Ser477Thr)
c.1448G>C (p.Ser483Thr)
c.1205G>C (p.Ser402Thr)
c.1238G>C (p.Ser413Thr)
c.1256G>C (p.Ser419Thr)
2g.127428822G>TCA348406489PROCc.1262G>T (p.Ser421Ile)
c.586G>T
c.1364G>T (p.Ser455Ile)
c.1445G>T (p.Ser482Ile)
c.1427G>T (p.Ser476Ile)
c.1325G>T (p.Ser442Ile)
n.1332-558C>A
c.1505G>T (p.Ser502Ile)
c.1607G>T (p.Ser536Ile)
c.1547G>T (p.Ser516Ile)
n.3607-558C>A
n.4043-558C>A
c.1430G>T (p.Ser477Ile)
c.1448G>T (p.Ser483Ile)
c.1205G>T (p.Ser402Ile)
c.1238G>T (p.Ser413Ile)
c.1256G>T (p.Ser419Ile)

Number of alleles fetched