Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127428824_127428825delinsTGCA1286884669PROCc.1264_1265delinsTG (p.Trp422=)
c.588_589delinsTG
c.1366_1367delinsTG (p.Trp456=)
c.1447_1448delinsTG (p.Trp483=)
c.1429_1430delinsTG (p.Trp477=)
c.1327_1328delinsTG (p.Trp443=)
n.1332-561_1332-560delinsCA
c.1507_1508delinsTG (p.Trp503=)
c.1609_1610delinsTG (p.Trp537=)
c.1549_1550delinsTG (p.Trp517=)
n.3607-561_3607-560delinsCA
n.4043-561_4043-560delinsCA
c.1432_1433delinsTG (p.Trp478=)
c.1450_1451delinsTG (p.Trp484=)
c.1207_1208delinsTG (p.Trp403=)
c.1240_1241delinsTG (p.Trp414=)
c.1258_1259delinsTG (p.Trp420=)
2g.127428825G>ACA348406501PROCc.1265G>A (p.Trp422Ter)
c.589G>A
c.1367G>A (p.Trp456Ter)
c.1448G>A (p.Trp483Ter)
c.1430G>A (p.Trp477Ter)
c.1328G>A (p.Trp443Ter)
n.1332-561C>T
c.1508G>A (p.Trp503Ter)
c.1610G>A (p.Trp537Ter)
c.1550G>A (p.Trp517Ter)
n.3607-561C>T
n.4043-561C>T
c.1433G>A (p.Trp478Ter)
c.1451G>A (p.Trp484Ter)
c.1208G>A (p.Trp403Ter)
c.1241G>A (p.Trp414Ter)
c.1259G>A (p.Trp420Ter)
 ClinVar
2g.127428825G>CCA348406503PROCc.1265G>C (p.Trp422Ser)
c.589G>C
c.1367G>C (p.Trp456Ser)
c.1448G>C (p.Trp483Ser)
c.1430G>C (p.Trp477Ser)
c.1328G>C (p.Trp443Ser)
n.1332-561C>G
c.1508G>C (p.Trp503Ser)
c.1610G>C (p.Trp537Ser)
c.1550G>C (p.Trp517Ser)
n.3607-561C>G
n.4043-561C>G
c.1433G>C (p.Trp478Ser)
c.1451G>C (p.Trp484Ser)
c.1208G>C (p.Trp403Ser)
c.1241G>C (p.Trp414Ser)
c.1259G>C (p.Trp420Ser)
2g.127428825G>TCA348406504PROCc.1265G>T (p.Trp422Leu)
c.589G>T
c.1367G>T (p.Trp456Leu)
c.1448G>T (p.Trp483Leu)
c.1430G>T (p.Trp477Leu)
c.1328G>T (p.Trp443Leu)
n.1332-561C>A
c.1508G>T (p.Trp503Leu)
c.1610G>T (p.Trp537Leu)
c.1550G>T (p.Trp517Leu)
n.3607-561C>A
n.4043-561C>A
c.1433G>T (p.Trp478Leu)
c.1451G>T (p.Trp484Leu)
c.1208G>T (p.Trp403Leu)
c.1241G>T (p.Trp414Leu)
c.1259G>T (p.Trp420Leu)
2g.127428828delCA1286884670PROCc.1268del (p.Gly423ValfsTer?)
c.592del
c.1370del (p.Gly457ValfsTer?)
c.1451del (p.Gly484ValfsTer?)
c.1433del (p.Gly478ValfsTer?)
c.1331del (p.Gly444ValfsTer?)
n.1332-561del
c.1511del (p.Gly504ValfsTer?)
c.1613del (p.Gly538ValfsTer?)
c.1553del (p.Gly518ValfsTer?)
n.3607-561del
n.4043-561del
c.1436del (p.Gly479ValfsTer?)
c.1454del (p.Gly485ValfsTer?)
c.1211del (p.Gly404ValfsTer?)
c.1244del (p.Gly415ValfsTer?)
c.1262del (p.Gly421ValfsTer?)
 ClinVar dbSNP gnomAD v4
2g.127428826G>ACA348406507PROCc.1266G>A (p.Trp422Ter)
c.590G>A
c.1368G>A (p.Trp456Ter)
c.1449G>A (p.Trp483Ter)
c.1431G>A (p.Trp477Ter)
c.1329G>A (p.Trp443Ter)
n.1332-562C>T
c.1509G>A (p.Trp503Ter)
c.1611G>A (p.Trp537Ter)
c.1551G>A (p.Trp517Ter)
n.3607-562C>T
n.4043-562C>T
c.1434G>A (p.Trp478Ter)
c.1452G>A (p.Trp484Ter)
c.1209G>A (p.Trp403Ter)
c.1242G>A (p.Trp414Ter)
c.1260G>A (p.Trp420Ter)
 ClinVar dbSNP
2g.127428826G>CCA348406509PROCc.1266G>C (p.Trp422Cys)
c.590G>C
c.1368G>C (p.Trp456Cys)
c.1449G>C (p.Trp483Cys)
c.1431G>C (p.Trp477Cys)
c.1329G>C (p.Trp443Cys)
n.1332-562C>G
c.1509G>C (p.Trp503Cys)
c.1611G>C (p.Trp537Cys)
c.1551G>C (p.Trp517Cys)
n.3607-562C>G
n.4043-562C>G
c.1434G>C (p.Trp478Cys)
c.1452G>C (p.Trp484Cys)
c.1209G>C (p.Trp403Cys)
c.1242G>C (p.Trp414Cys)
c.1260G>C (p.Trp420Cys)
2g.127428826G>TCA348406510PROCc.1266G>T (p.Trp422Cys)
c.590G>T
c.1368G>T (p.Trp456Cys)
c.1449G>T (p.Trp483Cys)
c.1431G>T (p.Trp477Cys)
c.1329G>T (p.Trp443Cys)
n.1332-562C>A
c.1509G>T (p.Trp503Cys)
c.1611G>T (p.Trp537Cys)
c.1551G>T (p.Trp517Cys)
n.3607-562C>A
n.4043-562C>A
c.1434G>T (p.Trp478Cys)
c.1452G>T (p.Trp484Cys)
c.1209G>T (p.Trp403Cys)
c.1242G>T (p.Trp414Cys)
c.1260G>T (p.Trp420Cys)
2g.127428827G>ACA348406513PROCc.1267G>A (p.Gly423Ser)
c.591G>A
c.1369G>A (p.Gly457Ser)
c.1450G>A (p.Gly484Ser)
c.1432G>A (p.Gly478Ser)
c.1330G>A (p.Gly444Ser)
n.1332-563C>T
c.1510G>A (p.Gly504Ser)
c.1612G>A (p.Gly538Ser)
c.1552G>A (p.Gly518Ser)
n.3607-563C>T
n.4043-563C>T
c.1435G>A (p.Gly479Ser)
c.1453G>A (p.Gly485Ser)
c.1210G>A (p.Gly404Ser)
c.1243G>A (p.Gly415Ser)
c.1261G>A (p.Gly421Ser)
 ClinVar dbSNP gnomAD v4
2g.127428827G>CCA348406514PROCc.1267G>C (p.Gly423Arg)
c.591G>C
c.1369G>C (p.Gly457Arg)
c.1450G>C (p.Gly484Arg)
c.1432G>C (p.Gly478Arg)
c.1330G>C (p.Gly444Arg)
n.1332-563C>G
c.1510G>C (p.Gly504Arg)
c.1612G>C (p.Gly538Arg)
c.1552G>C (p.Gly518Arg)
n.3607-563C>G
n.4043-563C>G
c.1435G>C (p.Gly479Arg)
c.1453G>C (p.Gly485Arg)
c.1210G>C (p.Gly404Arg)
c.1243G>C (p.Gly415Arg)
c.1261G>C (p.Gly421Arg)
2g.127428827G=CA1286884671PROCc.1267G= (p.Gly423=)
c.591G=
c.1369G= (p.Gly457=)
c.1450G= (p.Gly484=)
c.1432G= (p.Gly478=)
c.1330G= (p.Gly444=)
n.1332-563C=
c.1510G= (p.Gly504=)
c.1612G= (p.Gly538=)
c.1552G= (p.Gly518=)
n.3607-563C=
n.4043-563C=
c.1435G= (p.Gly479=)
c.1453G= (p.Gly485=)
c.1210G= (p.Gly404=)
c.1243G= (p.Gly415=)
c.1261G= (p.Gly421=)
2g.127428827G>TCA348406516PROCc.1267G>T (p.Gly423Cys)
c.591G>T
c.1369G>T (p.Gly457Cys)
c.1450G>T (p.Gly484Cys)
c.1432G>T (p.Gly478Cys)
c.1330G>T (p.Gly444Cys)
n.1332-563C>A
c.1510G>T (p.Gly504Cys)
c.1612G>T (p.Gly538Cys)
c.1552G>T (p.Gly518Cys)
n.3607-563C>A
n.4043-563C>A
c.1435G>T (p.Gly479Cys)
c.1453G>T (p.Gly485Cys)
c.1210G>T (p.Gly404Cys)
c.1243G>T (p.Gly415Cys)
c.1261G>T (p.Gly421Cys)
2g.127428828G>ACA348406520PROCc.1268G>A (p.Gly423Asp)
c.592G>A
c.1370G>A (p.Gly457Asp)
c.1451G>A (p.Gly484Asp)
c.1433G>A (p.Gly478Asp)
c.1331G>A (p.Gly444Asp)
n.1332-564C>T
c.1511G>A (p.Gly504Asp)
c.1613G>A (p.Gly538Asp)
c.1553G>A (p.Gly518Asp)
n.3607-564C>T
n.4043-564C>T
c.1436G>A (p.Gly479Asp)
c.1454G>A (p.Gly485Asp)
c.1211G>A (p.Gly404Asp)
c.1244G>A (p.Gly415Asp)
c.1262G>A (p.Gly421Asp)
 gnomAD v4
2g.127428828G>CCA348406522PROCc.1268G>C (p.Gly423Ala)
c.592G>C
c.1370G>C (p.Gly457Ala)
c.1451G>C (p.Gly484Ala)
c.1433G>C (p.Gly478Ala)
c.1331G>C (p.Gly444Ala)
n.1332-564C>G
c.1511G>C (p.Gly504Ala)
c.1613G>C (p.Gly538Ala)
c.1553G>C (p.Gly518Ala)
n.3607-564C>G
n.4043-564C>G
c.1436G>C (p.Gly479Ala)
c.1454G>C (p.Gly485Ala)
c.1211G>C (p.Gly404Ala)
c.1244G>C (p.Gly415Ala)
c.1262G>C (p.Gly421Ala)
2g.127428828G>TCA348406519PROCc.1268G>T (p.Gly423Val)
c.592G>T
c.1370G>T (p.Gly457Val)
c.1451G>T (p.Gly484Val)
c.1433G>T (p.Gly478Val)
c.1331G>T (p.Gly444Val)
n.1332-564C>A
c.1511G>T (p.Gly504Val)
c.1613G>T (p.Gly538Val)
c.1553G>T (p.Gly518Val)
n.3607-564C>A
n.4043-564C>A
c.1436G>T (p.Gly479Val)
c.1454G>T (p.Gly485Val)
c.1211G>T (p.Gly404Val)
c.1244G>T (p.Gly415Val)
c.1262G>T (p.Gly421Val)
2g.127428829T>ACA428872869PROCc.1269T>A (p.Gly423=)
c.593T>A
c.1371T>A (p.Gly457=)
c.1452T>A (p.Gly484=)
c.1434T>A (p.Gly478=)
c.1332T>A (p.Gly444=)
n.1332-565A>T
c.1512T>A (p.Gly504=)
c.1614T>A (p.Gly538=)
c.1554T>A (p.Gly518=)
n.3607-565A>T
n.4043-565A>T
c.1437T>A (p.Gly479=)
c.1455T>A (p.Gly485=)
c.1212T>A (p.Gly404=)
c.1245T>A (p.Gly415=)
c.1263T>A (p.Gly421=)
2g.127428829T>CCA428872875PROCc.1269T>C (p.Gly423=)
c.593T>C
c.1371T>C (p.Gly457=)
c.1452T>C (p.Gly484=)
c.1434T>C (p.Gly478=)
c.1332T>C (p.Gly444=)
n.1332-565A>G
c.1512T>C (p.Gly504=)
c.1614T>C (p.Gly538=)
c.1554T>C (p.Gly518=)
n.3607-565A>G
n.4043-565A>G
c.1437T>C (p.Gly479=)
c.1455T>C (p.Gly485=)
c.1212T>C (p.Gly404=)
c.1245T>C (p.Gly415=)
c.1263T>C (p.Gly421=)
2g.127428829T>GCA428872872PROCc.1269T>G (p.Gly423=)
c.593T>G
c.1371T>G (p.Gly457=)
c.1452T>G (p.Gly484=)
c.1434T>G (p.Gly478=)
c.1332T>G (p.Gly444=)
n.1332-565A>C
c.1512T>G (p.Gly504=)
c.1614T>G (p.Gly538=)
c.1554T>G (p.Gly518=)
n.3607-565A>C
n.4043-565A>C
c.1437T>G (p.Gly479=)
c.1455T>G (p.Gly485=)
c.1212T>G (p.Gly404=)
c.1245T>G (p.Gly415=)
c.1263T>G (p.Gly421=)
2g.127428830G>ACA348406528PROCc.1270G>A (p.Glu424Lys)
c.594G>A
c.1372G>A (p.Glu458Lys)
c.1453G>A (p.Glu485Lys)
c.1435G>A (p.Glu479Lys)
c.1333G>A (p.Glu445Lys)
n.1332-566C>T
c.1513G>A (p.Glu505Lys)
c.1615G>A (p.Glu539Lys)
c.1555G>A (p.Glu519Lys)
n.3607-566C>T
n.4043-566C>T
c.1438G>A (p.Glu480Lys)
c.1456G>A (p.Glu486Lys)
c.1213G>A (p.Glu405Lys)
c.1246G>A (p.Glu416Lys)
c.1264G>A (p.Glu422Lys)
2g.127428830G>CCA348406525PROCc.1270G>C (p.Glu424Gln)
c.594G>C
c.1372G>C (p.Glu458Gln)
c.1453G>C (p.Glu485Gln)
c.1435G>C (p.Glu479Gln)
c.1333G>C (p.Glu445Gln)
n.1332-566C>G
c.1513G>C (p.Glu505Gln)
c.1615G>C (p.Glu539Gln)
c.1555G>C (p.Glu519Gln)
n.3607-566C>G
n.4043-566C>G
c.1438G>C (p.Glu480Gln)
c.1456G>C (p.Glu486Gln)
c.1213G>C (p.Glu405Gln)
c.1246G>C (p.Glu416Gln)
c.1264G>C (p.Glu422Gln)
2g.127428830G>TCA348406526PROCc.1270G>T (p.Glu424Ter)
c.594G>T
c.1372G>T (p.Glu458Ter)
c.1453G>T (p.Glu485Ter)
c.1435G>T (p.Glu479Ter)
c.1333G>T (p.Glu445Ter)
n.1332-566C>A
c.1513G>T (p.Glu505Ter)
c.1615G>T (p.Glu539Ter)
c.1555G>T (p.Glu519Ter)
n.3607-566C>A
n.4043-566C>A
c.1438G>T (p.Glu480Ter)
c.1456G>T (p.Glu486Ter)
c.1213G>T (p.Glu405Ter)
c.1246G>T (p.Glu416Ter)
c.1264G>T (p.Glu422Ter)
2g.127428831A=CA1286884672PROCc.1271A= (p.Glu424=)
c.595A=
c.1373A= (p.Glu458=)
c.1454A= (p.Glu485=)
c.1436A= (p.Glu479=)
c.1334A= (p.Glu445=)
n.1332-567T=
c.1514A= (p.Glu505=)
c.1616A= (p.Glu539=)
c.1556A= (p.Glu519=)
n.3607-567T=
n.4043-567T=
c.1439A= (p.Glu480=)
c.1457A= (p.Glu486=)
c.1214A= (p.Glu405=)
c.1247A= (p.Glu416=)
c.1265A= (p.Glu422=)
2g.127428831A>CCA348406530PROCc.1271A>C (p.Glu424Ala)
c.595A>C
c.1373A>C (p.Glu458Ala)
c.1454A>C (p.Glu485Ala)
c.1436A>C (p.Glu479Ala)
c.1334A>C (p.Glu445Ala)
n.1332-567T>G
c.1514A>C (p.Glu505Ala)
c.1616A>C (p.Glu539Ala)
c.1556A>C (p.Glu519Ala)
n.3607-567T>G
n.4043-567T>G
c.1439A>C (p.Glu480Ala)
c.1457A>C (p.Glu486Ala)
c.1214A>C (p.Glu405Ala)
c.1247A>C (p.Glu416Ala)
c.1265A>C (p.Glu422Ala)
2g.127428831A>GCA348406532PROCc.1271A>G (p.Glu424Gly)
c.595A>G
c.1373A>G (p.Glu458Gly)
c.1454A>G (p.Glu485Gly)
c.1436A>G (p.Glu479Gly)
c.1334A>G (p.Glu445Gly)
n.1332-567T>C
c.1514A>G (p.Glu505Gly)
c.1616A>G (p.Glu539Gly)
c.1556A>G (p.Glu519Gly)
n.3607-567T>C
n.4043-567T>C
c.1439A>G (p.Glu480Gly)
c.1457A>G (p.Glu486Gly)
c.1214A>G (p.Glu405Gly)
c.1247A>G (p.Glu416Gly)
c.1265A>G (p.Glu422Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.127428831A>TCA348406534PROCc.1271A>T (p.Glu424Val)
c.595A>T
c.1373A>T (p.Glu458Val)
c.1454A>T (p.Glu485Val)
c.1436A>T (p.Glu479Val)
c.1334A>T (p.Glu445Val)
n.1332-567T>A
c.1514A>T (p.Glu505Val)
c.1616A>T (p.Glu539Val)
c.1556A>T (p.Glu519Val)
n.3607-567T>A
n.4043-567T>A
c.1439A>T (p.Glu480Val)
c.1457A>T (p.Glu486Val)
c.1214A>T (p.Glu405Val)
c.1247A>T (p.Glu416Val)
c.1265A>T (p.Glu422Val)
2g.127428832G>ACA1859559PROCc.1272G>A (p.Glu424=)
c.596G>A
c.1374G>A (p.Glu458=)
c.1455G>A (p.Glu485=)
c.1437G>A (p.Glu479=)
c.1335G>A (p.Glu445=)
n.1332-568C>T
c.1515G>A (p.Glu505=)
c.1617G>A (p.Glu539=)
c.1557G>A (p.Glu519=)
n.3607-568C>T
n.4043-568C>T
c.1440G>A (p.Glu480=)
c.1458G>A (p.Glu486=)
c.1215G>A (p.Glu405=)
c.1248G>A (p.Glu416=)
c.1266G>A (p.Glu422=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428832G>CCA348406536PROCc.1272G>C (p.Glu424Asp)
c.596G>C
c.1374G>C (p.Glu458Asp)
c.1455G>C (p.Glu485Asp)
c.1437G>C (p.Glu479Asp)
c.1335G>C (p.Glu445Asp)
n.1332-568C>G
c.1515G>C (p.Glu505Asp)
c.1617G>C (p.Glu539Asp)
c.1557G>C (p.Glu519Asp)
n.3607-568C>G
n.4043-568C>G
c.1440G>C (p.Glu480Asp)
c.1458G>C (p.Glu486Asp)
c.1215G>C (p.Glu405Asp)
c.1248G>C (p.Glu416Asp)
c.1266G>C (p.Glu422Asp)
2g.127428832G=CA1286884673PROCc.1272G= (p.Glu424=)
c.596G=
c.1374G= (p.Glu458=)
c.1455G= (p.Glu485=)
c.1437G= (p.Glu479=)
c.1335G= (p.Glu445=)
n.1332-568C=
c.1515G= (p.Glu505=)
c.1617G= (p.Glu539=)
c.1557G= (p.Glu519=)
n.3607-568C=
n.4043-568C=
c.1440G= (p.Glu480=)
c.1458G= (p.Glu486=)
c.1215G= (p.Glu405=)
c.1248G= (p.Glu416=)
c.1266G= (p.Glu422=)
2g.127428832G>TCA348406535PROCc.1272G>T (p.Glu424Asp)
c.596G>T
c.1374G>T (p.Glu458Asp)
c.1455G>T (p.Glu485Asp)
c.1437G>T (p.Glu479Asp)
c.1335G>T (p.Glu445Asp)
n.1332-568C>A
c.1515G>T (p.Glu505Asp)
c.1617G>T (p.Glu539Asp)
c.1557G>T (p.Glu519Asp)
n.3607-568C>A
n.4043-568C>A
c.1440G>T (p.Glu480Asp)
c.1458G>T (p.Glu486Asp)
c.1215G>T (p.Glu405Asp)
c.1248G>T (p.Glu416Asp)
c.1266G>T (p.Glu422Asp)
2g.127428833G>ACA348406540PROCc.1273G>A (p.Gly425Ser)
c.597G>A
c.1375G>A (p.Gly459Ser)
c.1456G>A (p.Gly486Ser)
c.1438G>A (p.Gly480Ser)
c.1336G>A (p.Gly446Ser)
n.1332-569C>T
c.1516G>A (p.Gly506Ser)
c.1618G>A (p.Gly540Ser)
c.1558G>A (p.Gly520Ser)
n.3607-569C>T
n.4043-569C>T
c.1441G>A (p.Gly481Ser)
c.1459G>A (p.Gly487Ser)
c.1216G>A (p.Gly406Ser)
c.1249G>A (p.Gly417Ser)
c.1267G>A (p.Gly423Ser)
2g.127428833G>CCA348406541PROCc.1273G>C (p.Gly425Arg)
c.597G>C
c.1375G>C (p.Gly459Arg)
c.1456G>C (p.Gly486Arg)
c.1438G>C (p.Gly480Arg)
c.1336G>C (p.Gly446Arg)
n.1332-569C>G
c.1516G>C (p.Gly506Arg)
c.1618G>C (p.Gly540Arg)
c.1558G>C (p.Gly520Arg)
n.3607-569C>G
n.4043-569C>G
c.1441G>C (p.Gly481Arg)
c.1459G>C (p.Gly487Arg)
c.1216G>C (p.Gly406Arg)
c.1249G>C (p.Gly417Arg)
c.1267G>C (p.Gly423Arg)
2g.127428833G>TCA348406543PROCc.1273G>T (p.Gly425Cys)
c.597G>T
c.1375G>T (p.Gly459Cys)
c.1456G>T (p.Gly486Cys)
c.1438G>T (p.Gly480Cys)
c.1336G>T (p.Gly446Cys)
n.1332-569C>A
c.1516G>T (p.Gly506Cys)
c.1618G>T (p.Gly540Cys)
c.1558G>T (p.Gly520Cys)
n.3607-569C>A
n.4043-569C>A
c.1441G>T (p.Gly481Cys)
c.1459G>T (p.Gly487Cys)
c.1216G>T (p.Gly406Cys)
c.1249G>T (p.Gly417Cys)
c.1267G>T (p.Gly423Cys)
 gnomAD v4
2g.127428834G>ACA348406545PROCc.1274G>A (p.Gly425Asp)
c.598G>A
c.1376G>A (p.Gly459Asp)
c.1457G>A (p.Gly486Asp)
c.1439G>A (p.Gly480Asp)
c.1337G>A (p.Gly446Asp)
n.1332-570C>T
c.1517G>A (p.Gly506Asp)
c.1619G>A (p.Gly540Asp)
c.1559G>A (p.Gly520Asp)
n.3607-570C>T
n.4043-570C>T
c.1442G>A (p.Gly481Asp)
c.1460G>A (p.Gly487Asp)
c.1217G>A (p.Gly406Asp)
c.1250G>A (p.Gly417Asp)
c.1268G>A (p.Gly423Asp)
2g.127428834G>CCA348406547PROCc.1274G>C (p.Gly425Ala)
c.598G>C
c.1376G>C (p.Gly459Ala)
c.1457G>C (p.Gly486Ala)
c.1439G>C (p.Gly480Ala)
c.1337G>C (p.Gly446Ala)
n.1332-570C>G
c.1517G>C (p.Gly506Ala)
c.1619G>C (p.Gly540Ala)
c.1559G>C (p.Gly520Ala)
n.3607-570C>G
n.4043-570C>G
c.1442G>C (p.Gly481Ala)
c.1460G>C (p.Gly487Ala)
c.1217G>C (p.Gly406Ala)
c.1250G>C (p.Gly417Ala)
c.1268G>C (p.Gly423Ala)
2g.127428834G>TCA348406549PROCc.1274G>T (p.Gly425Val)
c.598G>T
c.1376G>T (p.Gly459Val)
c.1457G>T (p.Gly486Val)
c.1439G>T (p.Gly480Val)
c.1337G>T (p.Gly446Val)
n.1332-570C>A
c.1517G>T (p.Gly506Val)
c.1619G>T (p.Gly540Val)
c.1559G>T (p.Gly520Val)
n.3607-570C>A
n.4043-570C>A
c.1442G>T (p.Gly481Val)
c.1460G>T (p.Gly487Val)
c.1217G>T (p.Gly406Val)
c.1250G>T (p.Gly417Val)
c.1268G>T (p.Gly423Val)
2g.127428835C>ACA428872913PROCc.1275C>A (p.Gly425=)
c.599C>A
c.1377C>A (p.Gly459=)
c.1458C>A (p.Gly486=)
c.1440C>A (p.Gly480=)
c.1338C>A (p.Gly446=)
n.1332-571G>T
c.1518C>A (p.Gly506=)
c.1620C>A (p.Gly540=)
c.1560C>A (p.Gly520=)
n.3607-571G>T
n.4043-571G>T
c.1443C>A (p.Gly481=)
c.1461C>A (p.Gly487=)
c.1218C>A (p.Gly406=)
c.1251C>A (p.Gly417=)
c.1269C>A (p.Gly423=)
2g.127428835C>GCA428872916PROCc.1275C>G (p.Gly425=)
c.599C>G
c.1377C>G (p.Gly459=)
c.1458C>G (p.Gly486=)
c.1440C>G (p.Gly480=)
c.1338C>G (p.Gly446=)
n.1332-571G>C
c.1518C>G (p.Gly506=)
c.1620C>G (p.Gly540=)
c.1560C>G (p.Gly520=)
n.3607-571G>C
n.4043-571G>C
c.1443C>G (p.Gly481=)
c.1461C>G (p.Gly487=)
c.1218C>G (p.Gly406=)
c.1251C>G (p.Gly417=)
c.1269C>G (p.Gly423=)
 gnomAD v4
2g.127428835C>TCA428872918PROCc.1275C>T (p.Gly425=)
c.599C>T
c.1377C>T (p.Gly459=)
c.1458C>T (p.Gly486=)
c.1440C>T (p.Gly480=)
c.1338C>T (p.Gly446=)
n.1332-571G>A
c.1518C>T (p.Gly506=)
c.1620C>T (p.Gly540=)
c.1560C>T (p.Gly520=)
n.3607-571G>A
n.4043-571G>A
c.1443C>T (p.Gly481=)
c.1461C>T (p.Gly487=)
c.1218C>T (p.Gly406=)
c.1251C>T (p.Gly417=)
c.1269C>T (p.Gly423=)
2g.127428836_127428844delCA2660997782PROCc.1276_1284del (p.Cys426_Leu428del)
c.600_608del
c.1378_1386del (p.Cys460_Leu462del)
c.1459_1467del (p.Cys487_Leu489del)
c.1441_1449del (p.Cys481_Leu483del)
c.1339_1347del (p.Cys447_Leu449del)
n.1332-579_1332-571del
c.1519_1527del (p.Cys507_Leu509del)
c.1621_1629del (p.Cys541_Leu543del)
c.1561_1569del (p.Cys521_Leu523del)
n.3607-579_3607-571del
n.4043-579_4043-571del
c.1444_1452del (p.Cys482_Leu484del)
c.1462_1470del (p.Cys488_Leu490del)
c.1219_1227del (p.Cys407_Leu409del)
c.1252_1260del (p.Cys418_Leu420del)
c.1270_1278del (p.Cys424_Leu426del)
 gnomAD v4
2g.127428836T>ACA348406551PROCc.1276T>A (p.Cys426Ser)
c.600T>A
c.1378T>A (p.Cys460Ser)
c.1459T>A (p.Cys487Ser)
c.1441T>A (p.Cys481Ser)
c.1339T>A (p.Cys447Ser)
n.1332-572A>T
c.1519T>A (p.Cys507Ser)
c.1621T>A (p.Cys541Ser)
c.1561T>A (p.Cys521Ser)
n.3607-572A>T
n.4043-572A>T
c.1444T>A (p.Cys482Ser)
c.1462T>A (p.Cys488Ser)
c.1219T>A (p.Cys407Ser)
c.1252T>A (p.Cys418Ser)
c.1270T>A (p.Cys424Ser)
2g.127428836T>CCA348406556PROCc.1276T>C (p.Cys426Arg)
c.600T>C
c.1378T>C (p.Cys460Arg)
c.1459T>C (p.Cys487Arg)
c.1441T>C (p.Cys481Arg)
c.1339T>C (p.Cys447Arg)
n.1332-572A>G
c.1519T>C (p.Cys507Arg)
c.1621T>C (p.Cys541Arg)
c.1561T>C (p.Cys521Arg)
n.3607-572A>G
n.4043-572A>G
c.1444T>C (p.Cys482Arg)
c.1462T>C (p.Cys488Arg)
c.1219T>C (p.Cys407Arg)
c.1252T>C (p.Cys418Arg)
c.1270T>C (p.Cys424Arg)
 gnomAD v4
2g.127428836T>GCA348406553PROCc.1276T>G (p.Cys426Gly)
c.600T>G
c.1378T>G (p.Cys460Gly)
c.1459T>G (p.Cys487Gly)
c.1441T>G (p.Cys481Gly)
c.1339T>G (p.Cys447Gly)
n.1332-572A>C
c.1519T>G (p.Cys507Gly)
c.1621T>G (p.Cys541Gly)
c.1561T>G (p.Cys521Gly)
n.3607-572A>C
n.4043-572A>C
c.1444T>G (p.Cys482Gly)
c.1462T>G (p.Cys488Gly)
c.1219T>G (p.Cys407Gly)
c.1252T>G (p.Cys418Gly)
c.1270T>G (p.Cys424Gly)
2g.127428837G>ACA348406558PROCc.1277G>A (p.Cys426Tyr)
c.601G>A
c.1379G>A (p.Cys460Tyr)
c.1460G>A (p.Cys487Tyr)
c.1442G>A (p.Cys481Tyr)
c.1340G>A (p.Cys447Tyr)
n.1332-573C>T
c.1520G>A (p.Cys507Tyr)
c.1622G>A (p.Cys541Tyr)
c.1562G>A (p.Cys521Tyr)
n.3607-573C>T
n.4043-573C>T
c.1445G>A (p.Cys482Tyr)
c.1463G>A (p.Cys488Tyr)
c.1220G>A (p.Cys407Tyr)
c.1253G>A (p.Cys418Tyr)
c.1271G>A (p.Cys424Tyr)
 ClinVar dbSNP
2g.127428837G>CCA348406559PROCc.1277G>C (p.Cys426Ser)
c.601G>C
c.1379G>C (p.Cys460Ser)
c.1460G>C (p.Cys487Ser)
c.1442G>C (p.Cys481Ser)
c.1340G>C (p.Cys447Ser)
n.1332-573C>G
c.1520G>C (p.Cys507Ser)
c.1622G>C (p.Cys541Ser)
c.1562G>C (p.Cys521Ser)
n.3607-573C>G
n.4043-573C>G
c.1445G>C (p.Cys482Ser)
c.1463G>C (p.Cys488Ser)
c.1220G>C (p.Cys407Ser)
c.1253G>C (p.Cys418Ser)
c.1271G>C (p.Cys424Ser)
2g.127428837G=CA1286884674PROCc.1277G= (p.Cys426=)
c.601G=
c.1379G= (p.Cys460=)
c.1460G= (p.Cys487=)
c.1442G= (p.Cys481=)
c.1340G= (p.Cys447=)
n.1332-573C=
c.1520G= (p.Cys507=)
c.1622G= (p.Cys541=)
c.1562G= (p.Cys521=)
n.3607-573C=
n.4043-573C=
c.1445G= (p.Cys482=)
c.1463G= (p.Cys488=)
c.1220G= (p.Cys407=)
c.1253G= (p.Cys418=)
c.1271G= (p.Cys424=)
2g.127428837G>TCA348406561PROCc.1277G>T (p.Cys426Phe)
c.601G>T
c.1379G>T (p.Cys460Phe)
c.1460G>T (p.Cys487Phe)
c.1442G>T (p.Cys481Phe)
c.1340G>T (p.Cys447Phe)
n.1332-573C>A
c.1520G>T (p.Cys507Phe)
c.1622G>T (p.Cys541Phe)
c.1562G>T (p.Cys521Phe)
n.3607-573C>A
n.4043-573C>A
c.1445G>T (p.Cys482Phe)
c.1463G>T (p.Cys488Phe)
c.1220G>T (p.Cys407Phe)
c.1253G>T (p.Cys418Phe)
c.1271G>T (p.Cys424Phe)
2g.127428838T>ACA348406563PROCc.1278T>A (p.Cys426Ter)
c.602T>A
c.1380T>A (p.Cys460Ter)
c.1461T>A (p.Cys487Ter)
c.1443T>A (p.Cys481Ter)
c.1341T>A (p.Cys447Ter)
n.1332-574A>T
c.1521T>A (p.Cys507Ter)
c.1623T>A (p.Cys541Ter)
c.1563T>A (p.Cys521Ter)
n.3607-574A>T
n.4043-574A>T
c.1446T>A (p.Cys482Ter)
c.1464T>A (p.Cys488Ter)
c.1221T>A (p.Cys407Ter)
c.1254T>A (p.Cys418Ter)
c.1272T>A (p.Cys424Ter)
2g.127428838T>CCA428872938PROCc.1278T>C (p.Cys426=)
c.602T>C
c.1380T>C (p.Cys460=)
c.1461T>C (p.Cys487=)
c.1443T>C (p.Cys481=)
c.1341T>C (p.Cys447=)
n.1332-574A>G
c.1521T>C (p.Cys507=)
c.1623T>C (p.Cys541=)
c.1563T>C (p.Cys521=)
n.3607-574A>G
n.4043-574A>G
c.1446T>C (p.Cys482=)
c.1464T>C (p.Cys488=)
c.1221T>C (p.Cys407=)
c.1254T>C (p.Cys418=)
c.1272T>C (p.Cys424=)
 ClinVar dbSNP gnomAD v4
2g.127428838T>GCA348406564PROCc.1278T>G (p.Cys426Trp)
c.602T>G
c.1380T>G (p.Cys460Trp)
c.1461T>G (p.Cys487Trp)
c.1443T>G (p.Cys481Trp)
c.1341T>G (p.Cys447Trp)
n.1332-574A>C
c.1521T>G (p.Cys507Trp)
c.1623T>G (p.Cys541Trp)
c.1563T>G (p.Cys521Trp)
n.3607-574A>C
n.4043-574A>C
c.1446T>G (p.Cys482Trp)
c.1464T>G (p.Cys488Trp)
c.1221T>G (p.Cys407Trp)
c.1254T>G (p.Cys418Trp)
c.1272T>G (p.Cys424Trp)
2g.127428839G>ACA348406568PROCc.1279G>A (p.Gly427Arg)
c.603G>A
c.1381G>A (p.Gly461Arg)
c.1462G>A (p.Gly488Arg)
c.1444G>A (p.Gly482Arg)
c.1342G>A (p.Gly448Arg)
n.1332-575C>T
c.1522G>A (p.Gly508Arg)
c.1624G>A (p.Gly542Arg)
c.1564G>A (p.Gly522Arg)
n.3607-575C>T
n.4043-575C>T
c.1447G>A (p.Gly483Arg)
c.1465G>A (p.Gly489Arg)
c.1222G>A (p.Gly408Arg)
c.1255G>A (p.Gly419Arg)
c.1273G>A (p.Gly425Arg)

Number of alleles fetched