Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.127428823C>ACA348406493PROCc.1263C>A (p.Ser421Arg)
c.587C>A
c.1365C>A (p.Ser455Arg)
c.1446C>A (p.Ser482Arg)
c.1428C>A (p.Ser476Arg)
c.1326C>A (p.Ser442Arg)
n.1332-559G>T
c.1506C>A (p.Ser502Arg)
c.1608C>A (p.Ser536Arg)
c.1548C>A (p.Ser516Arg)
n.3607-559G>T
n.4043-559G>T
c.1431C>A (p.Ser477Arg)
c.1449C>A (p.Ser483Arg)
c.1206C>A (p.Ser402Arg)
c.1239C>A (p.Ser413Arg)
c.1257C>A (p.Ser419Arg)
2g.127428823C>GCA348406492PROCc.1263C>G (p.Ser421Arg)
c.587C>G
c.1365C>G (p.Ser455Arg)
c.1446C>G (p.Ser482Arg)
c.1428C>G (p.Ser476Arg)
c.1326C>G (p.Ser442Arg)
n.1332-559G>C
c.1506C>G (p.Ser502Arg)
c.1608C>G (p.Ser536Arg)
c.1548C>G (p.Ser516Arg)
n.3607-559G>C
n.4043-559G>C
c.1431C>G (p.Ser477Arg)
c.1449C>G (p.Ser483Arg)
c.1206C>G (p.Ser402Arg)
c.1239C>G (p.Ser413Arg)
c.1257C>G (p.Ser419Arg)
2g.127428823C>TCA428872825PROCc.1263C>T (p.Ser421=)
c.587C>T
c.1365C>T (p.Ser455=)
c.1446C>T (p.Ser482=)
c.1428C>T (p.Ser476=)
c.1326C>T (p.Ser442=)
n.1332-559G>A
c.1506C>T (p.Ser502=)
c.1608C>T (p.Ser536=)
c.1548C>T (p.Ser516=)
n.3607-559G>A
n.4043-559G>A
c.1431C>T (p.Ser477=)
c.1449C>T (p.Ser483=)
c.1206C>T (p.Ser402=)
c.1239C>T (p.Ser413=)
c.1257C>T (p.Ser419=)
2g.127428824T>ACA348406495PROCc.1264T>A (p.Trp422Arg)
c.588T>A
c.1366T>A (p.Trp456Arg)
c.1447T>A (p.Trp483Arg)
c.1429T>A (p.Trp477Arg)
c.1327T>A (p.Trp443Arg)
n.1332-560A>T
c.1507T>A (p.Trp503Arg)
c.1609T>A (p.Trp537Arg)
c.1549T>A (p.Trp517Arg)
n.3607-560A>T
n.4043-560A>T
c.1432T>A (p.Trp478Arg)
c.1450T>A (p.Trp484Arg)
c.1207T>A (p.Trp403Arg)
c.1240T>A (p.Trp414Arg)
c.1258T>A (p.Trp420Arg)
2g.127428824T>CCA348406497PROCc.1264T>C (p.Trp422Arg)
c.588T>C
c.1366T>C (p.Trp456Arg)
c.1447T>C (p.Trp483Arg)
c.1429T>C (p.Trp477Arg)
c.1327T>C (p.Trp443Arg)
n.1332-560A>G
c.1507T>C (p.Trp503Arg)
c.1609T>C (p.Trp537Arg)
c.1549T>C (p.Trp517Arg)
n.3607-560A>G
n.4043-560A>G
c.1432T>C (p.Trp478Arg)
c.1450T>C (p.Trp484Arg)
c.1207T>C (p.Trp403Arg)
c.1240T>C (p.Trp414Arg)
c.1258T>C (p.Trp420Arg)
2g.127428824T>GCA348406498PROCc.1264T>G (p.Trp422Gly)
c.588T>G
c.1366T>G (p.Trp456Gly)
c.1447T>G (p.Trp483Gly)
c.1429T>G (p.Trp477Gly)
c.1327T>G (p.Trp443Gly)
n.1332-560A>C
c.1507T>G (p.Trp503Gly)
c.1609T>G (p.Trp537Gly)
c.1549T>G (p.Trp517Gly)
n.3607-560A>C
n.4043-560A>C
c.1432T>G (p.Trp478Gly)
c.1450T>G (p.Trp484Gly)
c.1207T>G (p.Trp403Gly)
c.1240T>G (p.Trp414Gly)
c.1258T>G (p.Trp420Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428824T=CA1286884668PROCc.1264T= (p.Trp422=)
c.588T=
c.1366T= (p.Trp456=)
c.1447T= (p.Trp483=)
c.1429T= (p.Trp477=)
c.1327T= (p.Trp443=)
n.1332-560A=
c.1507T= (p.Trp503=)
c.1609T= (p.Trp537=)
c.1549T= (p.Trp517=)
n.3607-560A=
n.4043-560A=
c.1432T= (p.Trp478=)
c.1450T= (p.Trp484=)
c.1207T= (p.Trp403=)
c.1240T= (p.Trp414=)
c.1258T= (p.Trp420=)
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)
2g.127428839G>CCA348406569PROCc.1279G>C (p.Gly427Arg)
c.603G>C
c.1381G>C (p.Gly461Arg)
c.1462G>C (p.Gly488Arg)
c.1444G>C (p.Gly482Arg)
c.1342G>C (p.Gly448Arg)
n.1332-575C>G
c.1522G>C (p.Gly508Arg)
c.1624G>C (p.Gly542Arg)
c.1564G>C (p.Gly522Arg)
n.3607-575C>G
n.4043-575C>G
c.1447G>C (p.Gly483Arg)
c.1465G>C (p.Gly489Arg)
c.1222G>C (p.Gly408Arg)
c.1255G>C (p.Gly419Arg)
c.1273G>C (p.Gly425Arg)
2g.127428839G>TCA348406570PROCc.1279G>T (p.Gly427Trp)
c.603G>T
c.1381G>T (p.Gly461Trp)
c.1462G>T (p.Gly488Trp)
c.1444G>T (p.Gly482Trp)
c.1342G>T (p.Gly448Trp)
n.1332-575C>A
c.1522G>T (p.Gly508Trp)
c.1624G>T (p.Gly542Trp)
c.1564G>T (p.Gly522Trp)
n.3607-575C>A
n.4043-575C>A
c.1447G>T (p.Gly483Trp)
c.1465G>T (p.Gly489Trp)
c.1222G>T (p.Gly408Trp)
c.1255G>T (p.Gly419Trp)
c.1273G>T (p.Gly425Trp)
2g.127428840G>ACA348406571PROCc.1280G>A (p.Gly427Glu)
c.604G>A
c.1382G>A (p.Gly461Glu)
c.1463G>A (p.Gly488Glu)
c.1445G>A (p.Gly482Glu)
c.1343G>A (p.Gly448Glu)
n.1332-576C>T
c.1523G>A (p.Gly508Glu)
c.1625G>A (p.Gly542Glu)
c.1565G>A (p.Gly522Glu)
n.3607-576C>T
n.4043-576C>T
c.1448G>A (p.Gly483Glu)
c.1466G>A (p.Gly489Glu)
c.1223G>A (p.Gly408Glu)
c.1256G>A (p.Gly419Glu)
c.1274G>A (p.Gly425Glu)
2g.127428840G>CCA348406572PROCc.1280G>C (p.Gly427Ala)
c.604G>C
c.1382G>C (p.Gly461Ala)
c.1463G>C (p.Gly488Ala)
c.1445G>C (p.Gly482Ala)
c.1343G>C (p.Gly448Ala)
n.1332-576C>G
c.1523G>C (p.Gly508Ala)
c.1625G>C (p.Gly542Ala)
c.1565G>C (p.Gly522Ala)
n.3607-576C>G
n.4043-576C>G
c.1448G>C (p.Gly483Ala)
c.1466G>C (p.Gly489Ala)
c.1223G>C (p.Gly408Ala)
c.1256G>C (p.Gly419Ala)
c.1274G>C (p.Gly425Ala)
2g.127428840G>TCA348406573PROCc.1280G>T (p.Gly427Val)
c.604G>T
c.1382G>T (p.Gly461Val)
c.1463G>T (p.Gly488Val)
c.1445G>T (p.Gly482Val)
c.1343G>T (p.Gly448Val)
n.1332-576C>A
c.1523G>T (p.Gly508Val)
c.1625G>T (p.Gly542Val)
c.1565G>T (p.Gly522Val)
n.3607-576C>A
n.4043-576C>A
c.1448G>T (p.Gly483Val)
c.1466G>T (p.Gly489Val)
c.1223G>T (p.Gly408Val)
c.1256G>T (p.Gly419Val)
c.1274G>T (p.Gly425Val)
2g.127428841G>ACA428872949PROCc.1281G>A (p.Gly427=)
c.605G>A
c.1383G>A (p.Gly461=)
c.1464G>A (p.Gly488=)
c.1446G>A (p.Gly482=)
c.1344G>A (p.Gly448=)
n.1332-577C>T
c.1524G>A (p.Gly508=)
c.1626G>A (p.Gly542=)
c.1566G>A (p.Gly522=)
n.3607-577C>T
n.4043-577C>T
c.1449G>A (p.Gly483=)
c.1467G>A (p.Gly489=)
c.1224G>A (p.Gly408=)
c.1257G>A (p.Gly419=)
c.1275G>A (p.Gly425=)
2g.127428841G>CCA428872952PROCc.1281G>C (p.Gly427=)
c.605G>C
c.1383G>C (p.Gly461=)
c.1464G>C (p.Gly488=)
c.1446G>C (p.Gly482=)
c.1344G>C (p.Gly448=)
n.1332-577C>G
c.1524G>C (p.Gly508=)
c.1626G>C (p.Gly542=)
c.1566G>C (p.Gly522=)
n.3607-577C>G
n.4043-577C>G
c.1449G>C (p.Gly483=)
c.1467G>C (p.Gly489=)
c.1224G>C (p.Gly408=)
c.1257G>C (p.Gly419=)
c.1275G>C (p.Gly425=)
2g.127428841G=CA1286884675PROCc.1281G= (p.Gly427=)
c.605G=
c.1383G= (p.Gly461=)
c.1464G= (p.Gly488=)
c.1446G= (p.Gly482=)
c.1344G= (p.Gly448=)
n.1332-577C=
c.1524G= (p.Gly508=)
c.1626G= (p.Gly542=)
c.1566G= (p.Gly522=)
n.3607-577C=
n.4043-577C=
c.1449G= (p.Gly483=)
c.1467G= (p.Gly489=)
c.1224G= (p.Gly408=)
c.1257G= (p.Gly419=)
c.1275G= (p.Gly425=)
2g.127428841G>TCA55351460PROCc.1281G>T (p.Gly427=)
c.605G>T
c.1383G>T (p.Gly461=)
c.1464G>T (p.Gly488=)
c.1446G>T (p.Gly482=)
c.1344G>T (p.Gly448=)
n.1332-577C>A
c.1524G>T (p.Gly508=)
c.1626G>T (p.Gly542=)
c.1566G>T (p.Gly522=)
n.3607-577C>A
n.4043-577C>A
c.1449G>T (p.Gly483=)
c.1467G>T (p.Gly489=)
c.1224G>T (p.Gly408=)
c.1257G>T (p.Gly419=)
c.1275G>T (p.Gly425=)
 dbSNP gnomAD v2 gnomAD v4
2g.127428842C>ACA348406576PROCc.1282C>A (p.Leu428Ile)
c.606C>A
c.1384C>A (p.Leu462Ile)
c.1465C>A (p.Leu489Ile)
c.1447C>A (p.Leu483Ile)
c.1345C>A (p.Leu449Ile)
n.1332-578G>T
c.1525C>A (p.Leu509Ile)
c.1627C>A (p.Leu543Ile)
c.1567C>A (p.Leu523Ile)
n.3607-578G>T
n.4043-578G>T
c.1450C>A (p.Leu484Ile)
c.1468C>A (p.Leu490Ile)
c.1225C>A (p.Leu409Ile)
c.1258C>A (p.Leu420Ile)
c.1276C>A (p.Leu426Ile)
2g.127428842C>GCA348406575PROCc.1282C>G (p.Leu428Val)
c.606C>G
c.1384C>G (p.Leu462Val)
c.1465C>G (p.Leu489Val)
c.1447C>G (p.Leu483Val)
c.1345C>G (p.Leu449Val)
n.1332-578G>C
c.1525C>G (p.Leu509Val)
c.1627C>G (p.Leu543Val)
c.1567C>G (p.Leu523Val)
n.3607-578G>C
n.4043-578G>C
c.1450C>G (p.Leu484Val)
c.1468C>G (p.Leu490Val)
c.1225C>G (p.Leu409Val)
c.1258C>G (p.Leu420Val)
c.1276C>G (p.Leu426Val)
2g.127428842C>TCA348406574PROCc.1282C>T (p.Leu428Phe)
c.606C>T
c.1384C>T (p.Leu462Phe)
c.1465C>T (p.Leu489Phe)
c.1447C>T (p.Leu483Phe)
c.1345C>T (p.Leu449Phe)
n.1332-578G>A
c.1525C>T (p.Leu509Phe)
c.1627C>T (p.Leu543Phe)
c.1567C>T (p.Leu523Phe)
n.3607-578G>A
n.4043-578G>A
c.1450C>T (p.Leu484Phe)
c.1468C>T (p.Leu490Phe)
c.1225C>T (p.Leu409Phe)
c.1258C>T (p.Leu420Phe)
c.1276C>T (p.Leu426Phe)
 gnomAD v4
2g.127428844_127428846dupCA2660997783PROCc.1284_1286dup (p.Leu429_His430insLeu)
c.608_610dup
c.1386_1388dup (p.Leu463_His464insLeu)
c.1467_1469dup (p.Leu490_His491insLeu)
c.1449_1451dup (p.Leu484_His485insLeu)
c.1347_1349dup (p.Leu450_His451insLeu)
n.1332-580_1332-578dup
c.1527_1529dup (p.Leu510_His511insLeu)
c.1629_1631dup (p.Leu544_His545insLeu)
c.1569_1571dup (p.Leu524_His525insLeu)
n.3607-580_3607-578dup
n.4043-580_4043-578dup
c.1452_1454dup (p.Leu485_His486insLeu)
c.1470_1472dup (p.Leu491_His492insLeu)
c.1227_1229dup (p.Leu410_His411insLeu)
c.1260_1262dup (p.Leu421_His422insLeu)
c.1278_1280dup (p.Leu427_His428insLeu)
 gnomAD v4
2g.127428843T>ACA348406577PROCc.1283T>A (p.Leu428His)
c.607T>A
c.1385T>A (p.Leu462His)
c.1466T>A (p.Leu489His)
c.1448T>A (p.Leu483His)
c.1346T>A (p.Leu449His)
n.1332-579A>T
c.1526T>A (p.Leu509His)
c.1628T>A (p.Leu543His)
c.1568T>A (p.Leu523His)
n.3607-579A>T
n.4043-579A>T
c.1451T>A (p.Leu484His)
c.1469T>A (p.Leu490His)
c.1226T>A (p.Leu409His)
c.1259T>A (p.Leu420His)
c.1277T>A (p.Leu426His)
 dbSNP
2g.127428843T>CCA348406578PROCc.1283T>C (p.Leu428Pro)
c.607T>C
c.1385T>C (p.Leu462Pro)
c.1466T>C (p.Leu489Pro)
c.1448T>C (p.Leu483Pro)
c.1346T>C (p.Leu449Pro)
n.1332-579A>G
c.1526T>C (p.Leu509Pro)
c.1628T>C (p.Leu543Pro)
c.1568T>C (p.Leu523Pro)
n.3607-579A>G
n.4043-579A>G
c.1451T>C (p.Leu484Pro)
c.1469T>C (p.Leu490Pro)
c.1226T>C (p.Leu409Pro)
c.1259T>C (p.Leu420Pro)
c.1277T>C (p.Leu426Pro)
2g.127428843T>GCA348406579PROCc.1283T>G (p.Leu428Arg)
c.607T>G
c.1385T>G (p.Leu462Arg)
c.1466T>G (p.Leu489Arg)
c.1448T>G (p.Leu483Arg)
c.1346T>G (p.Leu449Arg)
n.1332-579A>C
c.1526T>G (p.Leu509Arg)
c.1628T>G (p.Leu543Arg)
c.1568T>G (p.Leu523Arg)
n.3607-579A>C
n.4043-579A>C
c.1451T>G (p.Leu484Arg)
c.1469T>G (p.Leu490Arg)
c.1226T>G (p.Leu409Arg)
c.1259T>G (p.Leu420Arg)
c.1277T>G (p.Leu426Arg)
2g.127428843T=CA1286884676PROCc.1283T= (p.Leu428=)
c.607T=
c.1385T= (p.Leu462=)
c.1466T= (p.Leu489=)
c.1448T= (p.Leu483=)
c.1346T= (p.Leu449=)
n.1332-579A=
c.1526T= (p.Leu509=)
c.1628T= (p.Leu543=)
c.1568T= (p.Leu523=)
n.3607-579A=
n.4043-579A=
c.1451T= (p.Leu484=)
c.1469T= (p.Leu490=)
c.1226T= (p.Leu409=)
c.1259T= (p.Leu420=)
c.1277T= (p.Leu426=)
2g.127428843_127428844insATCA2586969925PROCc.1283_1284insAT (p.Leu429SerfsTer?)
c.607_608insAT
c.1385_1386insAT (p.Leu463SerfsTer?)
c.1466_1467insAT (p.Leu490SerfsTer?)
c.1448_1449insAT (p.Leu484SerfsTer?)
c.1346_1347insAT (p.Leu450SerfsTer?)
n.1332-579_1332-578insTA
c.1526_1527insAT (p.Leu510SerfsTer?)
c.1628_1629insAT (p.Leu544SerfsTer?)
c.1568_1569insAT (p.Leu524SerfsTer?)
n.3607-579_3607-578insTA
n.4043-579_4043-578insTA
c.1451_1452insAT (p.Leu485SerfsTer?)
c.1469_1470insAT (p.Leu491SerfsTer?)
c.1226_1227insAT (p.Leu410SerfsTer?)
c.1259_1260insAT (p.Leu421SerfsTer?)
c.1277_1278insAT (p.Leu427SerfsTer?)
2g.127428844C>ACA428872970PROCc.1284C>A (p.Leu428=)
c.608C>A
c.1386C>A (p.Leu462=)
c.1467C>A (p.Leu489=)
c.1449C>A (p.Leu483=)
c.1347C>A (p.Leu449=)
n.1332-580G>T
c.1527C>A (p.Leu509=)
c.1629C>A (p.Leu543=)
c.1569C>A (p.Leu523=)
n.3607-580G>T
n.4043-580G>T
c.1452C>A (p.Leu484=)
c.1470C>A (p.Leu490=)
c.1227C>A (p.Leu409=)
c.1260C>A (p.Leu420=)
c.1278C>A (p.Leu426=)
 gnomAD v4
2g.127428844C=CA1286884677PROCc.1284C= (p.Leu428=)
c.608C=
c.1386C= (p.Leu462=)
c.1467C= (p.Leu489=)
c.1449C= (p.Leu483=)
c.1347C= (p.Leu449=)
n.1332-580G=
c.1527C= (p.Leu509=)
c.1629C= (p.Leu543=)
c.1569C= (p.Leu523=)
n.3607-580G=
n.4043-580G=
c.1452C= (p.Leu484=)
c.1470C= (p.Leu490=)
c.1227C= (p.Leu409=)
c.1260C= (p.Leu420=)
c.1278C= (p.Leu426=)
2g.127428844C>GCA428872973PROCc.1284C>G (p.Leu428=)
c.608C>G
c.1386C>G (p.Leu462=)
c.1467C>G (p.Leu489=)
c.1449C>G (p.Leu483=)
c.1347C>G (p.Leu449=)
n.1332-580G>C
c.1527C>G (p.Leu509=)
c.1629C>G (p.Leu543=)
c.1569C>G (p.Leu523=)
n.3607-580G>C
n.4043-580G>C
c.1452C>G (p.Leu484=)
c.1470C>G (p.Leu490=)
c.1227C>G (p.Leu409=)
c.1260C>G (p.Leu420=)
c.1278C>G (p.Leu426=)
2g.127428844C>TCA428872977PROCc.1284C>T (p.Leu428=)
c.608C>T
c.1386C>T (p.Leu462=)
c.1467C>T (p.Leu489=)
c.1449C>T (p.Leu483=)
c.1347C>T (p.Leu449=)
n.1332-580G>A
c.1527C>T (p.Leu509=)
c.1629C>T (p.Leu543=)
c.1569C>T (p.Leu523=)
n.3607-580G>A
n.4043-580G>A
c.1452C>T (p.Leu484=)
c.1470C>T (p.Leu490=)
c.1227C>T (p.Leu409=)
c.1260C>T (p.Leu420=)
c.1278C>T (p.Leu426=)
2g.127428844_127428845insACA1286884678PROCc.1284_1285insA (p.Leu429ThrfsTer?)
c.608_609insA
c.1386_1387insA (p.Leu463ThrfsTer?)
c.1467_1468insA (p.Leu490ThrfsTer?)
c.1449_1450insA (p.Leu484ThrfsTer?)
c.1347_1348insA (p.Leu450ThrfsTer?)
n.1332-581_1332-580insT
c.1527_1528insA (p.Leu510ThrfsTer?)
c.1629_1630insA (p.Leu544ThrfsTer?)
c.1569_1570insA (p.Leu524ThrfsTer?)
n.3607-581_3607-580insT
n.4043-581_4043-580insT
c.1452_1453insA (p.Leu485ThrfsTer?)
c.1470_1471insA (p.Leu491ThrfsTer?)
c.1227_1228insA (p.Leu410ThrfsTer?)
c.1260_1261insA (p.Leu421ThrfsTer?)
c.1278_1279insA (p.Leu427ThrfsTer?)
 dbSNP
2g.127428845C>ACA348406580PROCc.1285C>A (p.Leu429Ile)
c.609C>A
c.1387C>A (p.Leu463Ile)
c.1468C>A (p.Leu490Ile)
c.1450C>A (p.Leu484Ile)
c.1348C>A (p.Leu450Ile)
n.1332-581G>T
c.1528C>A (p.Leu510Ile)
c.1630C>A (p.Leu544Ile)
c.1570C>A (p.Leu524Ile)
n.3607-581G>T
n.4043-581G>T
c.1453C>A (p.Leu485Ile)
c.1471C>A (p.Leu491Ile)
c.1228C>A (p.Leu410Ile)
c.1261C>A (p.Leu421Ile)
c.1279C>A (p.Leu427Ile)
2g.127428845C>GCA348406581PROCc.1285C>G (p.Leu429Val)
c.609C>G
c.1387C>G (p.Leu463Val)
c.1468C>G (p.Leu490Val)
c.1450C>G (p.Leu484Val)
c.1348C>G (p.Leu450Val)
n.1332-581G>C
c.1528C>G (p.Leu510Val)
c.1630C>G (p.Leu544Val)
c.1570C>G (p.Leu524Val)
n.3607-581G>C
n.4043-581G>C
c.1453C>G (p.Leu485Val)
c.1471C>G (p.Leu491Val)
c.1228C>G (p.Leu410Val)
c.1261C>G (p.Leu421Val)
c.1279C>G (p.Leu427Val)
2g.127428845C>TCA348406582PROCc.1285C>T (p.Leu429Phe)
c.609C>T
c.1387C>T (p.Leu463Phe)
c.1468C>T (p.Leu490Phe)
c.1450C>T (p.Leu484Phe)
c.1348C>T (p.Leu450Phe)
n.1332-581G>A
c.1528C>T (p.Leu510Phe)
c.1630C>T (p.Leu544Phe)
c.1570C>T (p.Leu524Phe)
n.3607-581G>A
n.4043-581G>A
c.1453C>T (p.Leu485Phe)
c.1471C>T (p.Leu491Phe)
c.1228C>T (p.Leu410Phe)
c.1261C>T (p.Leu421Phe)
c.1279C>T (p.Leu427Phe)
 gnomAD v4
2g.127428845_127428847delinsCTTCA1286884679PROCc.1285_1287delinsCTT (p.Leu429=)
c.609_611delinsCTT
c.1387_1389delinsCTT (p.Leu463=)
c.1468_1470delinsCTT (p.Leu490=)
c.1450_1452delinsCTT (p.Leu484=)
c.1348_1350delinsCTT (p.Leu450=)
n.1332-583_1332-581delinsAAG
c.1528_1530delinsCTT (p.Leu510=)
c.1630_1632delinsCTT (p.Leu544=)
c.1570_1572delinsCTT (p.Leu524=)
n.3607-583_3607-581delinsAAG
n.4043-583_4043-581delinsAAG
c.1453_1455delinsCTT (p.Leu485=)
c.1471_1473delinsCTT (p.Leu491=)
c.1228_1230delinsCTT (p.Leu410=)
c.1261_1263delinsCTT (p.Leu421=)
c.1279_1281delinsCTT (p.Leu427=)
2g.127428846T>ACA348406583PROCc.1286T>A (p.Leu429His)
c.610T>A
c.1388T>A (p.Leu463His)
c.1469T>A (p.Leu490His)
c.1451T>A (p.Leu484His)
c.1349T>A (p.Leu450His)
n.1332-582A>T
c.1529T>A (p.Leu510His)
c.1631T>A (p.Leu544His)
c.1571T>A (p.Leu524His)
n.3607-582A>T
n.4043-582A>T
c.1454T>A (p.Leu485His)
c.1472T>A (p.Leu491His)
c.1229T>A (p.Leu410His)
c.1262T>A (p.Leu421His)
c.1280T>A (p.Leu427His)
2g.127428846T>CCA348406584PROCc.1286T>C (p.Leu429Pro)
c.610T>C
c.1388T>C (p.Leu463Pro)
c.1469T>C (p.Leu490Pro)
c.1451T>C (p.Leu484Pro)
c.1349T>C (p.Leu450Pro)
n.1332-582A>G
c.1529T>C (p.Leu510Pro)
c.1631T>C (p.Leu544Pro)
c.1571T>C (p.Leu524Pro)
n.3607-582A>G
n.4043-582A>G
c.1454T>C (p.Leu485Pro)
c.1472T>C (p.Leu491Pro)
c.1229T>C (p.Leu410Pro)
c.1262T>C (p.Leu421Pro)
c.1280T>C (p.Leu427Pro)
2g.127428846T>GCA348406585PROCc.1286T>G (p.Leu429Arg)
c.610T>G
c.1388T>G (p.Leu463Arg)
c.1469T>G (p.Leu490Arg)
c.1451T>G (p.Leu484Arg)
c.1349T>G (p.Leu450Arg)
n.1332-582A>C
c.1529T>G (p.Leu510Arg)
c.1631T>G (p.Leu544Arg)
c.1571T>G (p.Leu524Arg)
n.3607-582A>C
n.4043-582A>C
c.1454T>G (p.Leu485Arg)
c.1472T>G (p.Leu491Arg)
c.1229T>G (p.Leu410Arg)
c.1262T>G (p.Leu421Arg)
c.1280T>G (p.Leu427Arg)
2g.127428846_127428847delCA1286884680PROCc.1286_1287del (p.Leu429ProfsTer?)
c.610_611del
c.1388_1389del (p.Leu463ProfsTer?)
c.1469_1470del (p.Leu490ProfsTer?)
c.1451_1452del (p.Leu484ProfsTer?)
c.1349_1350del (p.Leu450ProfsTer?)
n.1332-583_1332-582del
c.1529_1530del (p.Leu510ProfsTer?)
c.1631_1632del (p.Leu544ProfsTer?)
c.1571_1572del (p.Leu524ProfsTer?)
n.3607-583_3607-582del
n.4043-583_4043-582del
c.1454_1455del (p.Leu485ProfsTer?)
c.1472_1473del (p.Leu491ProfsTer?)
c.1229_1230del (p.Leu410ProfsTer?)
c.1262_1263del (p.Leu421ProfsTer?)
c.1280_1281del (p.Leu427ProfsTer?)
 dbSNP
2g.127428847T>ACA428873003PROCc.1287T>A (p.Leu429=)
c.611T>A
c.1389T>A (p.Leu463=)
c.1470T>A (p.Leu490=)
c.1452T>A (p.Leu484=)
c.1350T>A (p.Leu450=)
n.1332-583A>T
c.1530T>A (p.Leu510=)
c.1632T>A (p.Leu544=)
c.1572T>A (p.Leu524=)
n.3607-583A>T
n.4043-583A>T
c.1455T>A (p.Leu485=)
c.1473T>A (p.Leu491=)
c.1230T>A (p.Leu410=)
c.1263T>A (p.Leu421=)
c.1281T>A (p.Leu427=)
2g.127428847T>CCA428873000PROCc.1287T>C (p.Leu429=)
c.611T>C
c.1389T>C (p.Leu463=)
c.1470T>C (p.Leu490=)
c.1452T>C (p.Leu484=)
c.1350T>C (p.Leu450=)
n.1332-583A>G
c.1530T>C (p.Leu510=)
c.1632T>C (p.Leu544=)
c.1572T>C (p.Leu524=)
n.3607-583A>G
n.4043-583A>G
c.1455T>C (p.Leu485=)
c.1473T>C (p.Leu491=)
c.1230T>C (p.Leu410=)
c.1263T>C (p.Leu421=)
c.1281T>C (p.Leu427=)
 ClinVar gnomAD v4
2g.127428847T>GCA428872998PROCc.1287T>G (p.Leu429=)
c.611T>G
c.1389T>G (p.Leu463=)
c.1470T>G (p.Leu490=)
c.1452T>G (p.Leu484=)
c.1350T>G (p.Leu450=)
n.1332-583A>C
c.1530T>G (p.Leu510=)
c.1632T>G (p.Leu544=)
c.1572T>G (p.Leu524=)
n.3607-583A>C
n.4043-583A>C
c.1455T>G (p.Leu485=)
c.1473T>G (p.Leu491=)
c.1230T>G (p.Leu410=)
c.1263T>G (p.Leu421=)
c.1281T>G (p.Leu427=)
2g.127428848C>ACA348406586PROCc.1288C>A (p.His430Asn)
c.612C>A
c.1390C>A (p.His464Asn)
c.1471C>A (p.His491Asn)
c.1453C>A (p.His485Asn)
c.1351C>A (p.His451Asn)
n.1332-584G>T
c.1531C>A (p.His511Asn)
c.1633C>A (p.His545Asn)
c.1573C>A (p.His525Asn)
n.3607-584G>T
n.4043-584G>T
c.1456C>A (p.His486Asn)
c.1474C>A (p.His492Asn)
c.1231C>A (p.His411Asn)
c.1264C>A (p.His422Asn)
c.1282C>A (p.His428Asn)
2g.127428848C=CA1286884681PROCc.1288C= (p.His430=)
c.612C=
c.1390C= (p.His464=)
c.1471C= (p.His491=)
c.1453C= (p.His485=)
c.1351C= (p.His451=)
n.1332-584G=
c.1531C= (p.His511=)
c.1633C= (p.His545=)
c.1573C= (p.His525=)
n.3607-584G=
n.4043-584G=
c.1456C= (p.His486=)
c.1474C= (p.His492=)
c.1231C= (p.His411=)
c.1264C= (p.His422=)
c.1282C= (p.His428=)
2g.127428848C>GCA348406587PROCc.1288C>G (p.His430Asp)
c.612C>G
c.1390C>G (p.His464Asp)
c.1471C>G (p.His491Asp)
c.1453C>G (p.His485Asp)
c.1351C>G (p.His451Asp)
n.1332-584G>C
c.1531C>G (p.His511Asp)
c.1633C>G (p.His545Asp)
c.1573C>G (p.His525Asp)
n.3607-584G>C
n.4043-584G>C
c.1456C>G (p.His486Asp)
c.1474C>G (p.His492Asp)
c.1231C>G (p.His411Asp)
c.1264C>G (p.His422Asp)
c.1282C>G (p.His428Asp)
2g.127428848C>TCA1859560PROCc.1288C>T (p.His430Tyr)
c.612C>T
c.1390C>T (p.His464Tyr)
c.1471C>T (p.His491Tyr)
c.1453C>T (p.His485Tyr)
c.1351C>T (p.His451Tyr)
n.1332-584G>A
c.1531C>T (p.His511Tyr)
c.1633C>T (p.His545Tyr)
c.1573C>T (p.His525Tyr)
n.3607-584G>A
n.4043-584G>A
c.1456C>T (p.His486Tyr)
c.1474C>T (p.His492Tyr)
c.1231C>T (p.His411Tyr)
c.1264C>T (p.His422Tyr)
c.1282C>T (p.His428Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428849A>CCA348406589PROCc.1289A>C (p.His430Pro)
c.613A>C
c.1391A>C (p.His464Pro)
c.1472A>C (p.His491Pro)
c.1454A>C (p.His485Pro)
c.1352A>C (p.His451Pro)
n.1332-585T>G
c.1532A>C (p.His511Pro)
c.1634A>C (p.His545Pro)
c.1574A>C (p.His525Pro)
n.3607-585T>G
n.4043-585T>G
c.1457A>C (p.His486Pro)
c.1475A>C (p.His492Pro)
c.1232A>C (p.His411Pro)
c.1265A>C (p.His422Pro)
c.1283A>C (p.His428Pro)
2g.127428849A>GCA348406590PROCc.1289A>G (p.His430Arg)
c.613A>G
c.1391A>G (p.His464Arg)
c.1472A>G (p.His491Arg)
c.1454A>G (p.His485Arg)
c.1352A>G (p.His451Arg)
n.1332-585T>C
c.1532A>G (p.His511Arg)
c.1634A>G (p.His545Arg)
c.1574A>G (p.His525Arg)
n.3607-585T>C
n.4043-585T>C
c.1457A>G (p.His486Arg)
c.1475A>G (p.His492Arg)
c.1232A>G (p.His411Arg)
c.1265A>G (p.His422Arg)
c.1283A>G (p.His428Arg)
2g.127428849A>TCA348406588PROCc.1289A>T (p.His430Leu)
c.613A>T
c.1391A>T (p.His464Leu)
c.1472A>T (p.His491Leu)
c.1454A>T (p.His485Leu)
c.1352A>T (p.His451Leu)
n.1332-585T>A
c.1532A>T (p.His511Leu)
c.1634A>T (p.His545Leu)
c.1574A>T (p.His525Leu)
n.3607-585T>A
n.4043-585T>A
c.1457A>T (p.His486Leu)
c.1475A>T (p.His492Leu)
c.1232A>T (p.His411Leu)
c.1265A>T (p.His422Leu)
c.1283A>T (p.His428Leu)
2g.127428849dupCA1286884682PROCc.1289dup (p.His430GlnfsTer?)
c.613dup
c.1391dup (p.His464GlnfsTer?)
c.1472dup (p.His491GlnfsTer?)
c.1454dup (p.His485GlnfsTer?)
c.1352dup (p.His451GlnfsTer?)
n.1332-585dup
c.1532dup (p.His511GlnfsTer?)
c.1634dup (p.His545GlnfsTer?)
c.1574dup (p.His525GlnfsTer?)
n.3607-585dup
n.4043-585dup
c.1457dup (p.His486GlnfsTer?)
c.1475dup (p.His492GlnfsTer?)
c.1232dup (p.His411GlnfsTer?)
c.1265dup (p.His422GlnfsTer?)
c.1283dup (p.His428GlnfsTer?)
 dbSNP
2g.127428850C>ACA348406591PROCc.1290C>A (p.His430Gln)
c.614C>A
c.1392C>A (p.His464Gln)
c.1473C>A (p.His491Gln)
c.1455C>A (p.His485Gln)
c.1353C>A (p.His451Gln)
n.1332-586G>T
c.1533C>A (p.His511Gln)
c.1635C>A (p.His545Gln)
c.1575C>A (p.His525Gln)
n.3607-586G>T
n.4043-586G>T
c.1458C>A (p.His486Gln)
c.1476C>A (p.His492Gln)
c.1233C>A (p.His411Gln)
c.1266C>A (p.His422Gln)
c.1284C>A (p.His428Gln)
2g.127428850C>GCA348406592PROCc.1290C>G (p.His430Gln)
c.614C>G
c.1392C>G (p.His464Gln)
c.1473C>G (p.His491Gln)
c.1455C>G (p.His485Gln)
c.1353C>G (p.His451Gln)
n.1332-586G>C
c.1533C>G (p.His511Gln)
c.1635C>G (p.His545Gln)
c.1575C>G (p.His525Gln)
n.3607-586G>C
n.4043-586G>C
c.1458C>G (p.His486Gln)
c.1476C>G (p.His492Gln)
c.1233C>G (p.His411Gln)
c.1266C>G (p.His422Gln)
c.1284C>G (p.His428Gln)
2g.127428850C>TCA428873011PROCc.1290C>T (p.His430=)
c.614C>T
c.1392C>T (p.His464=)
c.1473C>T (p.His491=)
c.1455C>T (p.His485=)
c.1353C>T (p.His451=)
n.1332-586G>A
c.1533C>T (p.His511=)
c.1635C>T (p.His545=)
c.1575C>T (p.His525=)
n.3607-586G>A
n.4043-586G>A
c.1458C>T (p.His486=)
c.1476C>T (p.His492=)
c.1233C>T (p.His411=)
c.1266C>T (p.His422=)
c.1284C>T (p.His428=)
 gnomAD v4
2g.127428851A>CCA348406593PROCc.1291A>C (p.Asn431His)
c.615A>C
c.1393A>C (p.Asn465His)
c.1474A>C (p.Asn492His)
c.1456A>C (p.Asn486His)
c.1354A>C (p.Asn452His)
n.1332-587T>G
c.1534A>C (p.Asn512His)
c.1636A>C (p.Asn546His)
c.1576A>C (p.Asn526His)
n.3607-587T>G
n.4043-587T>G
c.1459A>C (p.Asn487His)
c.1477A>C (p.Asn493His)
c.1234A>C (p.Asn412His)
c.1267A>C (p.Asn423His)
c.1285A>C (p.Asn429His)
2g.127428851A>GCA348406594PROCc.1291A>G (p.Asn431Asp)
c.615A>G
c.1393A>G (p.Asn465Asp)
c.1474A>G (p.Asn492Asp)
c.1456A>G (p.Asn486Asp)
c.1354A>G (p.Asn452Asp)
n.1332-587T>C
c.1534A>G (p.Asn512Asp)
c.1636A>G (p.Asn546Asp)
c.1576A>G (p.Asn526Asp)
n.3607-587T>C
n.4043-587T>C
c.1459A>G (p.Asn487Asp)
c.1477A>G (p.Asn493Asp)
c.1234A>G (p.Asn412Asp)
c.1267A>G (p.Asn423Asp)
c.1285A>G (p.Asn429Asp)
2g.127428851A>TCA348406595PROCc.1291A>T (p.Asn431Tyr)
c.615A>T
c.1393A>T (p.Asn465Tyr)
c.1474A>T (p.Asn492Tyr)
c.1456A>T (p.Asn486Tyr)
c.1354A>T (p.Asn452Tyr)
n.1332-587T>A
c.1534A>T (p.Asn512Tyr)
c.1636A>T (p.Asn546Tyr)
c.1576A>T (p.Asn526Tyr)
n.3607-587T>A
n.4043-587T>A
c.1459A>T (p.Asn487Tyr)
c.1477A>T (p.Asn493Tyr)
c.1234A>T (p.Asn412Tyr)
c.1267A>T (p.Asn423Tyr)
c.1285A>T (p.Asn429Tyr)
2g.127428852A>CCA348406598PROCc.1292A>C (p.Asn431Thr)
c.616A>C
c.1394A>C (p.Asn465Thr)
c.1475A>C (p.Asn492Thr)
c.1457A>C (p.Asn486Thr)
c.1355A>C (p.Asn452Thr)
n.1332-588T>G
c.1535A>C (p.Asn512Thr)
c.1637A>C (p.Asn546Thr)
c.1577A>C (p.Asn526Thr)
n.3607-588T>G
n.4043-588T>G
c.1460A>C (p.Asn487Thr)
c.1478A>C (p.Asn493Thr)
c.1235A>C (p.Asn412Thr)
c.1268A>C (p.Asn423Thr)
c.1286A>C (p.Asn429Thr)
2g.127428852A>GCA348406596PROCc.1292A>G (p.Asn431Ser)
c.616A>G
c.1394A>G (p.Asn465Ser)
c.1475A>G (p.Asn492Ser)
c.1457A>G (p.Asn486Ser)
c.1355A>G (p.Asn452Ser)
n.1332-588T>C
c.1535A>G (p.Asn512Ser)
c.1637A>G (p.Asn546Ser)
c.1577A>G (p.Asn526Ser)
n.3607-588T>C
n.4043-588T>C
c.1460A>G (p.Asn487Ser)
c.1478A>G (p.Asn493Ser)
c.1235A>G (p.Asn412Ser)
c.1268A>G (p.Asn423Ser)
c.1286A>G (p.Asn429Ser)
2g.127428852A>TCA348406597PROCc.1292A>T (p.Asn431Ile)
c.616A>T
c.1394A>T (p.Asn465Ile)
c.1475A>T (p.Asn492Ile)
c.1457A>T (p.Asn486Ile)
c.1355A>T (p.Asn452Ile)
n.1332-588T>A
c.1535A>T (p.Asn512Ile)
c.1637A>T (p.Asn546Ile)
c.1577A>T (p.Asn526Ile)
n.3607-588T>A
n.4043-588T>A
c.1460A>T (p.Asn487Ile)
c.1478A>T (p.Asn493Ile)
c.1235A>T (p.Asn412Ile)
c.1268A>T (p.Asn423Ile)
c.1286A>T (p.Asn429Ile)
2g.127428853delCA2573133200PROCc.1293del (p.Tyr432ThrfsTer?)
c.617del
c.1395del (p.Tyr466ThrfsTer?)
c.1476del (p.Tyr493ThrfsTer?)
c.1458del (p.Tyr487ThrfsTer?)
c.1356del (p.Tyr453ThrfsTer?)
n.1332-589del
c.1536del (p.Tyr513ThrfsTer?)
c.1638del (p.Tyr547ThrfsTer?)
c.1578del (p.Tyr527ThrfsTer?)
n.3607-589del
n.4043-589del
c.1461del (p.Tyr488ThrfsTer?)
c.1479del (p.Tyr494ThrfsTer?)
c.1236del (p.Tyr413ThrfsTer?)
c.1269del (p.Tyr424ThrfsTer?)
c.1287del (p.Tyr430ThrfsTer?)
 ClinVar dbSNP gnomAD v4
2g.127428853C>ACA348406599PROCc.1293C>A (p.Asn431Lys)
c.617C>A
c.1395C>A (p.Asn465Lys)
c.1476C>A (p.Asn492Lys)
c.1458C>A (p.Asn486Lys)
c.1356C>A (p.Asn452Lys)
n.1332-589G>T
c.1536C>A (p.Asn512Lys)
c.1638C>A (p.Asn546Lys)
c.1578C>A (p.Asn526Lys)
n.3607-589G>T
n.4043-589G>T
c.1461C>A (p.Asn487Lys)
c.1479C>A (p.Asn493Lys)
c.1236C>A (p.Asn412Lys)
c.1269C>A (p.Asn423Lys)
c.1287C>A (p.Asn429Lys)
2g.127428853C>GCA348406600PROCc.1293C>G (p.Asn431Lys)
c.617C>G
c.1395C>G (p.Asn465Lys)
c.1476C>G (p.Asn492Lys)
c.1458C>G (p.Asn486Lys)
c.1356C>G (p.Asn452Lys)
n.1332-589G>C
c.1536C>G (p.Asn512Lys)
c.1638C>G (p.Asn546Lys)
c.1578C>G (p.Asn526Lys)
n.3607-589G>C
n.4043-589G>C
c.1461C>G (p.Asn487Lys)
c.1479C>G (p.Asn493Lys)
c.1236C>G (p.Asn412Lys)
c.1269C>G (p.Asn423Lys)
c.1287C>G (p.Asn429Lys)
2g.127428853C>TCA428873016PROCc.1293C>T (p.Asn431=)
c.617C>T
c.1395C>T (p.Asn465=)
c.1476C>T (p.Asn492=)
c.1458C>T (p.Asn486=)
c.1356C>T (p.Asn452=)
n.1332-589G>A
c.1536C>T (p.Asn512=)
c.1638C>T (p.Asn546=)
c.1578C>T (p.Asn526=)
n.3607-589G>A
n.4043-589G>A
c.1461C>T (p.Asn487=)
c.1479C>T (p.Asn493=)
c.1236C>T (p.Asn412=)
c.1269C>T (p.Asn423=)
c.1287C>T (p.Asn429=)
2g.127428854T>ACA348406601PROCc.1294T>A (p.Tyr432Asn)
c.618T>A
c.1396T>A (p.Tyr466Asn)
c.1477T>A (p.Tyr493Asn)
c.1459T>A (p.Tyr487Asn)
c.1357T>A (p.Tyr453Asn)
n.1332-590A>T
c.1537T>A (p.Tyr513Asn)
c.1639T>A (p.Tyr547Asn)
c.1579T>A (p.Tyr527Asn)
n.3607-590A>T
n.4043-590A>T
c.1462T>A (p.Tyr488Asn)
c.1480T>A (p.Tyr494Asn)
c.1237T>A (p.Tyr413Asn)
c.1270T>A (p.Tyr424Asn)
c.1288T>A (p.Tyr430Asn)
2g.127428854T>CCA348406602PROCc.1294T>C (p.Tyr432His)
c.618T>C
c.1396T>C (p.Tyr466His)
c.1477T>C (p.Tyr493His)
c.1459T>C (p.Tyr487His)
c.1357T>C (p.Tyr453His)
n.1332-590A>G
c.1537T>C (p.Tyr513His)
c.1639T>C (p.Tyr547His)
c.1579T>C (p.Tyr527His)
n.3607-590A>G
n.4043-590A>G
c.1462T>C (p.Tyr488His)
c.1480T>C (p.Tyr494His)
c.1237T>C (p.Tyr413His)
c.1270T>C (p.Tyr424His)
c.1288T>C (p.Tyr430His)
2g.127428854T>GCA348406603PROCc.1294T>G (p.Tyr432Asp)
c.618T>G
c.1396T>G (p.Tyr466Asp)
c.1477T>G (p.Tyr493Asp)
c.1459T>G (p.Tyr487Asp)
c.1357T>G (p.Tyr453Asp)
n.1332-590A>C
c.1537T>G (p.Tyr513Asp)
c.1639T>G (p.Tyr547Asp)
c.1579T>G (p.Tyr527Asp)
n.3607-590A>C
n.4043-590A>C
c.1462T>G (p.Tyr488Asp)
c.1480T>G (p.Tyr494Asp)
c.1237T>G (p.Tyr413Asp)
c.1270T>G (p.Tyr424Asp)
c.1288T>G (p.Tyr430Asp)
2g.127428855A>CCA348406604PROCc.1295A>C (p.Tyr432Ser)
c.619A>C
c.1397A>C (p.Tyr466Ser)
c.1478A>C (p.Tyr493Ser)
c.1460A>C (p.Tyr487Ser)
c.1358A>C (p.Tyr453Ser)
n.1332-591T>G
c.1538A>C (p.Tyr513Ser)
c.1640A>C (p.Tyr547Ser)
c.1580A>C (p.Tyr527Ser)
n.3607-591T>G
n.4043-591T>G
c.1463A>C (p.Tyr488Ser)
c.1481A>C (p.Tyr494Ser)
c.1238A>C (p.Tyr413Ser)
c.1271A>C (p.Tyr424Ser)
c.1289A>C (p.Tyr430Ser)
2g.127428855A>GCA348406606PROCc.1295A>G (p.Tyr432Cys)
c.619A>G
c.1397A>G (p.Tyr466Cys)
c.1478A>G (p.Tyr493Cys)
c.1460A>G (p.Tyr487Cys)
c.1358A>G (p.Tyr453Cys)
n.1332-591T>C
c.1538A>G (p.Tyr513Cys)
c.1640A>G (p.Tyr547Cys)
c.1580A>G (p.Tyr527Cys)
n.3607-591T>C
n.4043-591T>C
c.1463A>G (p.Tyr488Cys)
c.1481A>G (p.Tyr494Cys)
c.1238A>G (p.Tyr413Cys)
c.1271A>G (p.Tyr424Cys)
c.1289A>G (p.Tyr430Cys)
2g.127428855A>TCA348406605PROCc.1295A>T (p.Tyr432Phe)
c.619A>T
c.1397A>T (p.Tyr466Phe)
c.1478A>T (p.Tyr493Phe)
c.1460A>T (p.Tyr487Phe)
c.1358A>T (p.Tyr453Phe)
n.1332-591T>A
c.1538A>T (p.Tyr513Phe)
c.1640A>T (p.Tyr547Phe)
c.1580A>T (p.Tyr527Phe)
n.3607-591T>A
n.4043-591T>A
c.1463A>T (p.Tyr488Phe)
c.1481A>T (p.Tyr494Phe)
c.1238A>T (p.Tyr413Phe)
c.1271A>T (p.Tyr424Phe)
c.1289A>T (p.Tyr430Phe)
2g.127428856C>ACA348406607PROCc.1296C>A (p.Tyr432Ter)
c.620C>A
c.1398C>A (p.Tyr466Ter)
c.1479C>A (p.Tyr493Ter)
c.1461C>A (p.Tyr487Ter)
c.1359C>A (p.Tyr453Ter)
n.1332-592G>T
c.1539C>A (p.Tyr513Ter)
c.1641C>A (p.Tyr547Ter)
c.1581C>A (p.Tyr527Ter)
n.3607-592G>T
n.4043-592G>T
c.1464C>A (p.Tyr488Ter)
c.1482C>A (p.Tyr494Ter)
c.1239C>A (p.Tyr413Ter)
c.1272C>A (p.Tyr424Ter)
c.1290C>A (p.Tyr430Ter)
2g.127428856C=CA1286884683PROCc.1296C= (p.Tyr432=)
c.620C=
c.1398C= (p.Tyr466=)
c.1479C= (p.Tyr493=)
c.1461C= (p.Tyr487=)
c.1359C= (p.Tyr453=)
n.1332-592G=
c.1539C= (p.Tyr513=)
c.1641C= (p.Tyr547=)
c.1581C= (p.Tyr527=)
n.3607-592G=
n.4043-592G=
c.1464C= (p.Tyr488=)
c.1482C= (p.Tyr494=)
c.1239C= (p.Tyr413=)
c.1272C= (p.Tyr424=)
c.1290C= (p.Tyr430=)
2g.127428856C>GCA348406608PROCc.1296C>G (p.Tyr432Ter)
c.620C>G
c.1398C>G (p.Tyr466Ter)
c.1479C>G (p.Tyr493Ter)
c.1461C>G (p.Tyr487Ter)
c.1359C>G (p.Tyr453Ter)
n.1332-592G>C
c.1539C>G (p.Tyr513Ter)
c.1641C>G (p.Tyr547Ter)
c.1581C>G (p.Tyr527Ter)
n.3607-592G>C
n.4043-592G>C
c.1464C>G (p.Tyr488Ter)
c.1482C>G (p.Tyr494Ter)
c.1239C>G (p.Tyr413Ter)
c.1272C>G (p.Tyr424Ter)
c.1290C>G (p.Tyr430Ter)
2g.127428856C>TCA1859561PROCc.1296C>T (p.Tyr432=)
c.620C>T
c.1398C>T (p.Tyr466=)
c.1479C>T (p.Tyr493=)
c.1461C>T (p.Tyr487=)
c.1359C>T (p.Tyr453=)
n.1332-592G>A
c.1539C>T (p.Tyr513=)
c.1641C>T (p.Tyr547=)
c.1581C>T (p.Tyr527=)
n.3607-592G>A
n.4043-592G>A
c.1464C>T (p.Tyr488=)
c.1482C>T (p.Tyr494=)
c.1239C>T (p.Tyr413=)
c.1272C>T (p.Tyr424=)
c.1290C>T (p.Tyr430=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428857G>ACA348406609PROCc.1297G>A (p.Gly433Ser)
c.621G>A
c.1399G>A (p.Gly467Ser)
c.1480G>A (p.Gly494Ser)
c.1462G>A (p.Gly488Ser)
c.1360G>A (p.Gly454Ser)
n.1332-593C>T
c.1540G>A (p.Gly514Ser)
c.1642G>A (p.Gly548Ser)
c.1582G>A (p.Gly528Ser)
n.3607-593C>T
n.4043-593C>T
c.1465G>A (p.Gly489Ser)
c.1483G>A (p.Gly495Ser)
c.1240G>A (p.Gly414Ser)
c.1273G>A (p.Gly425Ser)
c.1291G>A (p.Gly431Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.127428857G>CCA348406610PROCc.1297G>C (p.Gly433Arg)
c.621G>C
c.1399G>C (p.Gly467Arg)
c.1480G>C (p.Gly494Arg)
c.1462G>C (p.Gly488Arg)
c.1360G>C (p.Gly454Arg)
n.1332-593C>G
c.1540G>C (p.Gly514Arg)
c.1642G>C (p.Gly548Arg)
c.1582G>C (p.Gly528Arg)
n.3607-593C>G
n.4043-593C>G
c.1465G>C (p.Gly489Arg)
c.1483G>C (p.Gly495Arg)
c.1240G>C (p.Gly414Arg)
c.1273G>C (p.Gly425Arg)
c.1291G>C (p.Gly431Arg)
2g.127428857G=CA1286884684PROCc.1297G= (p.Gly433=)
c.621G=
c.1399G= (p.Gly467=)
c.1480G= (p.Gly494=)
c.1462G= (p.Gly488=)
c.1360G= (p.Gly454=)
n.1332-593C=
c.1540G= (p.Gly514=)
c.1642G= (p.Gly548=)
c.1582G= (p.Gly528=)
n.3607-593C=
n.4043-593C=
c.1465G= (p.Gly489=)
c.1483G= (p.Gly495=)
c.1240G= (p.Gly414=)
c.1273G= (p.Gly425=)
c.1291G= (p.Gly431=)
2g.127428857G>TCA348406611PROCc.1297G>T (p.Gly433Cys)
c.621G>T
c.1399G>T (p.Gly467Cys)
c.1480G>T (p.Gly494Cys)
c.1462G>T (p.Gly488Cys)
c.1360G>T (p.Gly454Cys)
n.1332-593C>A
c.1540G>T (p.Gly514Cys)
c.1642G>T (p.Gly548Cys)
c.1582G>T (p.Gly528Cys)
n.3607-593C>A
n.4043-593C>A
c.1465G>T (p.Gly489Cys)
c.1483G>T (p.Gly495Cys)
c.1240G>T (p.Gly414Cys)
c.1273G>T (p.Gly425Cys)
c.1291G>T (p.Gly431Cys)
2g.127428858G>ACA1859562PROCc.1298G>A (p.Gly433Asp)
c.622G>A
c.1400G>A (p.Gly467Asp)
c.1481G>A (p.Gly494Asp)
c.1463G>A (p.Gly488Asp)
c.1361G>A (p.Gly454Asp)
n.1332-594C>T
c.1541G>A (p.Gly514Asp)
c.1643G>A (p.Gly548Asp)
c.1583G>A (p.Gly528Asp)
n.3607-594C>T
n.4043-594C>T
c.1466G>A (p.Gly489Asp)
c.1484G>A (p.Gly495Asp)
c.1241G>A (p.Gly414Asp)
c.1274G>A (p.Gly425Asp)
c.1292G>A (p.Gly431Asp)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127428858G>CCA348406612PROCc.1298G>C (p.Gly433Ala)
c.622G>C
c.1400G>C (p.Gly467Ala)
c.1481G>C (p.Gly494Ala)
c.1463G>C (p.Gly488Ala)
c.1361G>C (p.Gly454Ala)
n.1332-594C>G
c.1541G>C (p.Gly514Ala)
c.1643G>C (p.Gly548Ala)
c.1583G>C (p.Gly528Ala)
n.3607-594C>G
n.4043-594C>G
c.1466G>C (p.Gly489Ala)
c.1484G>C (p.Gly495Ala)
c.1241G>C (p.Gly414Ala)
c.1274G>C (p.Gly425Ala)
c.1292G>C (p.Gly431Ala)
2g.127428858G=CA1286884685PROCc.1298G= (p.Gly433=)
c.622G=
c.1400G= (p.Gly467=)
c.1481G= (p.Gly494=)
c.1463G= (p.Gly488=)
c.1361G= (p.Gly454=)
n.1332-594C=
c.1541G= (p.Gly514=)
c.1643G= (p.Gly548=)
c.1583G= (p.Gly528=)
n.3607-594C=
n.4043-594C=
c.1466G= (p.Gly489=)
c.1484G= (p.Gly495=)
c.1241G= (p.Gly414=)
c.1274G= (p.Gly425=)
c.1292G= (p.Gly431=)
2g.127428858G>TCA348406613PROCc.1298G>T (p.Gly433Val)
c.622G>T
c.1400G>T (p.Gly467Val)
c.1481G>T (p.Gly494Val)
c.1463G>T (p.Gly488Val)
c.1361G>T (p.Gly454Val)
n.1332-594C>A
c.1541G>T (p.Gly514Val)
c.1643G>T (p.Gly548Val)
c.1583G>T (p.Gly528Val)
n.3607-594C>A
n.4043-594C>A
c.1466G>T (p.Gly489Val)
c.1484G>T (p.Gly495Val)
c.1241G>T (p.Gly414Val)
c.1274G>T (p.Gly425Val)
c.1292G>T (p.Gly431Val)
2g.127428859C>ACA428873027PROCc.1299C>A (p.Gly433=)
c.623C>A
c.1401C>A (p.Gly467=)
c.1482C>A (p.Gly494=)
c.1464C>A (p.Gly488=)
c.1362C>A (p.Gly454=)
n.1332-595G>T
c.1542C>A (p.Gly514=)
c.1644C>A (p.Gly548=)
c.1584C>A (p.Gly528=)
n.3607-595G>T
n.4043-595G>T
c.1467C>A (p.Gly489=)
c.1485C>A (p.Gly495=)
c.1242C>A (p.Gly414=)
c.1275C>A (p.Gly425=)
c.1293C>A (p.Gly431=)
2g.127428859C=CA1286884686PROCc.1299C= (p.Gly433=)
c.623C=
c.1401C= (p.Gly467=)
c.1482C= (p.Gly494=)
c.1464C= (p.Gly488=)
c.1362C= (p.Gly454=)
n.1332-595G=
c.1542C= (p.Gly514=)
c.1644C= (p.Gly548=)
c.1584C= (p.Gly528=)
n.3607-595G=
n.4043-595G=
c.1467C= (p.Gly489=)
c.1485C= (p.Gly495=)
c.1242C= (p.Gly414=)
c.1275C= (p.Gly425=)
c.1293C= (p.Gly431=)
2g.127428859C>GCA428873028PROCc.1299C>G (p.Gly433=)
c.623C>G
c.1401C>G (p.Gly467=)
c.1482C>G (p.Gly494=)
c.1464C>G (p.Gly488=)
c.1362C>G (p.Gly454=)
n.1332-595G>C
c.1542C>G (p.Gly514=)
c.1644C>G (p.Gly548=)
c.1584C>G (p.Gly528=)
n.3607-595G>C
n.4043-595G>C
c.1467C>G (p.Gly489=)
c.1485C>G (p.Gly495=)
c.1242C>G (p.Gly414=)
c.1275C>G (p.Gly425=)
c.1293C>G (p.Gly431=)
2g.127428859C>TCA349279PROCc.1299C>T (p.Gly433=)
c.623C>T
c.1401C>T (p.Gly467=)
c.1482C>T (p.Gly494=)
c.1464C>T (p.Gly488=)
c.1362C>T (p.Gly454=)
n.1332-595G>A
c.1542C>T (p.Gly514=)
c.1644C>T (p.Gly548=)
c.1584C>T (p.Gly528=)
n.3607-595G>A
n.4043-595G>A
c.1467C>T (p.Gly489=)
c.1485C>T (p.Gly495=)
c.1242C>T (p.Gly414=)
c.1275C>T (p.Gly425=)
c.1293C>T (p.Gly431=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428860G>ACA1859563PROCc.1300G>A (p.Val434Ile)
c.624G>A
c.1402G>A (p.Val468Ile)
c.1483G>A (p.Val495Ile)
c.1465G>A (p.Val489Ile)
c.1363G>A (p.Val455Ile)
n.1332-596C>T
c.1543G>A (p.Val515Ile)
c.1645G>A (p.Val549Ile)
c.1585G>A (p.Val529Ile)
n.3607-596C>T
n.4043-596C>T
c.1468G>A (p.Val490Ile)
c.1486G>A (p.Val496Ile)
c.1243G>A (p.Val415Ile)
c.1276G>A (p.Val426Ile)
c.1294G>A (p.Val432Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127428860G>CCA348406615PROCc.1300G>C (p.Val434Leu)
c.624G>C
c.1402G>C (p.Val468Leu)
c.1483G>C (p.Val495Leu)
c.1465G>C (p.Val489Leu)
c.1363G>C (p.Val455Leu)
n.1332-596C>G
c.1543G>C (p.Val515Leu)
c.1645G>C (p.Val549Leu)
c.1585G>C (p.Val529Leu)
n.3607-596C>G
n.4043-596C>G
c.1468G>C (p.Val490Leu)
c.1486G>C (p.Val496Leu)
c.1243G>C (p.Val415Leu)
c.1276G>C (p.Val426Leu)
c.1294G>C (p.Val432Leu)
2g.127428860G=CA1286884687PROCc.1300G= (p.Val434=)
c.624G=
c.1402G= (p.Val468=)
c.1483G= (p.Val495=)
c.1465G= (p.Val489=)
c.1363G= (p.Val455=)
n.1332-596C=
c.1543G= (p.Val515=)
c.1645G= (p.Val549=)
c.1585G= (p.Val529=)
n.3607-596C=
n.4043-596C=
c.1468G= (p.Val490=)
c.1486G= (p.Val496=)
c.1243G= (p.Val415=)
c.1276G= (p.Val426=)
c.1294G= (p.Val432=)
2g.127428860G>TCA348406614PROCc.1300G>T (p.Val434Phe)
c.624G>T
c.1402G>T (p.Val468Phe)
c.1483G>T (p.Val495Phe)
c.1465G>T (p.Val489Phe)
c.1363G>T (p.Val455Phe)
n.1332-596C>A
c.1543G>T (p.Val515Phe)
c.1645G>T (p.Val549Phe)
c.1585G>T (p.Val529Phe)
n.3607-596C>A
n.4043-596C>A
c.1468G>T (p.Val490Phe)
c.1486G>T (p.Val496Phe)
c.1243G>T (p.Val415Phe)
c.1276G>T (p.Val426Phe)
c.1294G>T (p.Val432Phe)
2g.127428861T>ACA348406616PROCc.1301T>A (p.Val434Asp)
c.625T>A
c.1403T>A (p.Val468Asp)
c.1484T>A (p.Val495Asp)
c.1466T>A (p.Val489Asp)
c.1364T>A (p.Val455Asp)
n.1332-597A>T
c.1544T>A (p.Val515Asp)
c.1646T>A (p.Val549Asp)
c.1586T>A (p.Val529Asp)
n.3607-597A>T
n.4043-597A>T
c.1469T>A (p.Val490Asp)
c.1487T>A (p.Val496Asp)
c.1244T>A (p.Val415Asp)
c.1277T>A (p.Val426Asp)
c.1295T>A (p.Val432Asp)
2g.127428861T>CCA348406617PROCc.1301T>C (p.Val434Ala)
c.625T>C
c.1403T>C (p.Val468Ala)
c.1484T>C (p.Val495Ala)
c.1466T>C (p.Val489Ala)
c.1364T>C (p.Val455Ala)
n.1332-597A>G
c.1544T>C (p.Val515Ala)
c.1646T>C (p.Val549Ala)
c.1586T>C (p.Val529Ala)
n.3607-597A>G
n.4043-597A>G
c.1469T>C (p.Val490Ala)
c.1487T>C (p.Val496Ala)
c.1244T>C (p.Val415Ala)
c.1277T>C (p.Val426Ala)
c.1295T>C (p.Val432Ala)
2g.127428861T>GCA348406618PROCc.1301T>G (p.Val434Gly)
c.625T>G
c.1403T>G (p.Val468Gly)
c.1484T>G (p.Val495Gly)
c.1466T>G (p.Val489Gly)
c.1364T>G (p.Val455Gly)
n.1332-597A>C
c.1544T>G (p.Val515Gly)
c.1646T>G (p.Val549Gly)
c.1586T>G (p.Val529Gly)
n.3607-597A>C
n.4043-597A>C
c.1469T>G (p.Val490Gly)
c.1487T>G (p.Val496Gly)
c.1244T>G (p.Val415Gly)
c.1277T>G (p.Val426Gly)
c.1295T>G (p.Val432Gly)
2g.127428862T>ACA428873034PROCc.1302T>A (p.Val434=)
c.626T>A
c.1404T>A (p.Val468=)
c.1485T>A (p.Val495=)
c.1467T>A (p.Val489=)
c.1365T>A (p.Val455=)
n.1332-598A>T
c.1545T>A (p.Val515=)
c.1647T>A (p.Val549=)
c.1587T>A (p.Val529=)
n.3607-598A>T
n.4043-598A>T
c.1470T>A (p.Val490=)
c.1488T>A (p.Val496=)
c.1245T>A (p.Val415=)
c.1278T>A (p.Val426=)
c.1296T>A (p.Val432=)
2g.127428862T>CCA1859564PROCc.1302T>C (p.Val434=)
c.626T>C
c.1404T>C (p.Val468=)
c.1485T>C (p.Val495=)
c.1467T>C (p.Val489=)
c.1365T>C (p.Val455=)
n.1332-598A>G
c.1545T>C (p.Val515=)
c.1647T>C (p.Val549=)
c.1587T>C (p.Val529=)
n.3607-598A>G
n.4043-598A>G
c.1470T>C (p.Val490=)
c.1488T>C (p.Val496=)
c.1245T>C (p.Val415=)
c.1278T>C (p.Val426=)
c.1296T>C (p.Val432=)
 dbSNP ExAC
2g.127428862T>GCA428873033PROCc.1302T>G (p.Val434=)
c.626T>G
c.1404T>G (p.Val468=)
c.1485T>G (p.Val495=)
c.1467T>G (p.Val489=)
c.1365T>G (p.Val455=)
n.1332-598A>C
c.1545T>G (p.Val515=)
c.1647T>G (p.Val549=)
c.1587T>G (p.Val529=)
n.3607-598A>C
n.4043-598A>C
c.1470T>G (p.Val490=)
c.1488T>G (p.Val496=)
c.1245T>G (p.Val415=)
c.1278T>G (p.Val426=)
c.1296T>G (p.Val432=)
2g.127428862T=CA1286884688PROCc.1302T= (p.Val434=)
c.626T=
c.1404T= (p.Val468=)
c.1485T= (p.Val495=)
c.1467T= (p.Val489=)
c.1365T= (p.Val455=)
n.1332-598A=
c.1545T= (p.Val515=)
c.1647T= (p.Val549=)
c.1587T= (p.Val529=)
n.3607-598A=
n.4043-598A=
c.1470T= (p.Val490=)
c.1488T= (p.Val496=)
c.1245T= (p.Val415=)
c.1278T= (p.Val426=)
c.1296T= (p.Val432=)
2g.127428863T>ACA348406621PROCc.1303T>A (p.Tyr435Asn)
c.627T>A
c.1405T>A (p.Tyr469Asn)
c.1486T>A (p.Tyr496Asn)
c.1468T>A (p.Tyr490Asn)
c.1366T>A (p.Tyr456Asn)
n.1332-599A>T
c.1546T>A (p.Tyr516Asn)
c.1648T>A (p.Tyr550Asn)
c.1588T>A (p.Tyr530Asn)
n.3607-599A>T
n.4043-599A>T
c.1471T>A (p.Tyr491Asn)
c.1489T>A (p.Tyr497Asn)
c.1246T>A (p.Tyr416Asn)
c.1279T>A (p.Tyr427Asn)
c.1297T>A (p.Tyr433Asn)
2g.127428863T>CCA348406619PROCc.1303T>C (p.Tyr435His)
c.627T>C
c.1405T>C (p.Tyr469His)
c.1486T>C (p.Tyr496His)
c.1468T>C (p.Tyr490His)
c.1366T>C (p.Tyr456His)
n.1332-599A>G
c.1546T>C (p.Tyr516His)
c.1648T>C (p.Tyr550His)
c.1588T>C (p.Tyr530His)
n.3607-599A>G
n.4043-599A>G
c.1471T>C (p.Tyr491His)
c.1489T>C (p.Tyr497His)
c.1246T>C (p.Tyr416His)
c.1279T>C (p.Tyr427His)
c.1297T>C (p.Tyr433His)
 dbSNP gnomAD v2 gnomAD v4
2g.127428863T>GCA348406620PROCc.1303T>G (p.Tyr435Asp)
c.627T>G
c.1405T>G (p.Tyr469Asp)
c.1486T>G (p.Tyr496Asp)
c.1468T>G (p.Tyr490Asp)
c.1366T>G (p.Tyr456Asp)
n.1332-599A>C
c.1546T>G (p.Tyr516Asp)
c.1648T>G (p.Tyr550Asp)
c.1588T>G (p.Tyr530Asp)
n.3607-599A>C
n.4043-599A>C
c.1471T>G (p.Tyr491Asp)
c.1489T>G (p.Tyr497Asp)
c.1246T>G (p.Tyr416Asp)
c.1279T>G (p.Tyr427Asp)
c.1297T>G (p.Tyr433Asp)
2g.127428863T=CA1286884689PROCc.1303T= (p.Tyr435=)
c.627T=
c.1405T= (p.Tyr469=)
c.1486T= (p.Tyr496=)
c.1468T= (p.Tyr490=)
c.1366T= (p.Tyr456=)
n.1332-599A=
c.1546T= (p.Tyr516=)
c.1648T= (p.Tyr550=)
c.1588T= (p.Tyr530=)
n.3607-599A=
n.4043-599A=
c.1471T= (p.Tyr491=)
c.1489T= (p.Tyr497=)
c.1246T= (p.Tyr416=)
c.1279T= (p.Tyr427=)
c.1297T= (p.Tyr433=)
2g.127428864A>CCA348406622PROCc.1304A>C (p.Tyr435Ser)
c.628A>C
c.1406A>C (p.Tyr469Ser)
c.1487A>C (p.Tyr496Ser)
c.1469A>C (p.Tyr490Ser)
c.1367A>C (p.Tyr456Ser)
n.1332-600T>G
c.1547A>C (p.Tyr516Ser)
c.1649A>C (p.Tyr550Ser)
c.1589A>C (p.Tyr530Ser)
n.3607-600T>G
n.4043-600T>G
c.1472A>C (p.Tyr491Ser)
c.1490A>C (p.Tyr497Ser)
c.1247A>C (p.Tyr416Ser)
c.1280A>C (p.Tyr427Ser)
c.1298A>C (p.Tyr433Ser)
2g.127428864A>GCA348406623PROCc.1304A>G (p.Tyr435Cys)
c.628A>G
c.1406A>G (p.Tyr469Cys)
c.1487A>G (p.Tyr496Cys)
c.1469A>G (p.Tyr490Cys)
c.1367A>G (p.Tyr456Cys)
n.1332-600T>C
c.1547A>G (p.Tyr516Cys)
c.1649A>G (p.Tyr550Cys)
c.1589A>G (p.Tyr530Cys)
n.3607-600T>C
n.4043-600T>C
c.1472A>G (p.Tyr491Cys)
c.1490A>G (p.Tyr497Cys)
c.1247A>G (p.Tyr416Cys)
c.1280A>G (p.Tyr427Cys)
c.1298A>G (p.Tyr433Cys)
2g.127428864A>TCA348406624PROCc.1304A>T (p.Tyr435Phe)
c.628A>T
c.1406A>T (p.Tyr469Phe)
c.1487A>T (p.Tyr496Phe)
c.1469A>T (p.Tyr490Phe)
c.1367A>T (p.Tyr456Phe)
n.1332-600T>A
c.1547A>T (p.Tyr516Phe)
c.1649A>T (p.Tyr550Phe)
c.1589A>T (p.Tyr530Phe)
n.3607-600T>A
n.4043-600T>A
c.1472A>T (p.Tyr491Phe)
c.1490A>T (p.Tyr497Phe)
c.1247A>T (p.Tyr416Phe)
c.1280A>T (p.Tyr427Phe)
c.1298A>T (p.Tyr433Phe)
2g.127428865delCA2573133201PROCc.1305del (p.Tyr435Ter)
c.629del
c.1407del (p.Tyr469Ter)
c.1488del (p.Tyr496Ter)
c.1470del (p.Tyr490Ter)
c.1368del (p.Tyr456Ter)
n.1332-601del
c.1548del (p.Tyr516Ter)
c.1650del (p.Tyr550Ter)
c.1590del (p.Tyr530Ter)
n.3607-601del
n.4043-601del
c.1473del (p.Tyr491Ter)
c.1491del (p.Tyr497Ter)
c.1248del (p.Tyr416Ter)
c.1281del (p.Tyr427Ter)
c.1299del (p.Tyr433Ter)
 ClinVar dbSNP
2g.127428865C>ACA348406625PROCc.1305C>A (p.Tyr435Ter)
c.629C>A
c.1407C>A (p.Tyr469Ter)
c.1488C>A (p.Tyr496Ter)
c.1470C>A (p.Tyr490Ter)
c.1368C>A (p.Tyr456Ter)
n.1332-601G>T
c.1548C>A (p.Tyr516Ter)
c.1650C>A (p.Tyr550Ter)
c.1590C>A (p.Tyr530Ter)
n.3607-601G>T
n.4043-601G>T
c.1473C>A (p.Tyr491Ter)
c.1491C>A (p.Tyr497Ter)
c.1248C>A (p.Tyr416Ter)
c.1281C>A (p.Tyr427Ter)
c.1299C>A (p.Tyr433Ter)
2g.127428865C=CA1286884690PROCc.1305C= (p.Tyr435=)
c.629C=
c.1407C= (p.Tyr469=)
c.1488C= (p.Tyr496=)
c.1470C= (p.Tyr490=)
c.1368C= (p.Tyr456=)
n.1332-601G=
c.1548C= (p.Tyr516=)
c.1650C= (p.Tyr550=)
c.1590C= (p.Tyr530=)
n.3607-601G=
n.4043-601G=
c.1473C= (p.Tyr491=)
c.1491C= (p.Tyr497=)
c.1248C= (p.Tyr416=)
c.1281C= (p.Tyr427=)
c.1299C= (p.Tyr433=)
2g.127428865C>GCA348406626PROCc.1305C>G (p.Tyr435Ter)
c.629C>G
c.1407C>G (p.Tyr469Ter)
c.1488C>G (p.Tyr496Ter)
c.1470C>G (p.Tyr490Ter)
c.1368C>G (p.Tyr456Ter)
n.1332-601G>C
c.1548C>G (p.Tyr516Ter)
c.1650C>G (p.Tyr550Ter)
c.1590C>G (p.Tyr530Ter)
n.3607-601G>C
n.4043-601G>C
c.1473C>G (p.Tyr491Ter)
c.1491C>G (p.Tyr497Ter)
c.1248C>G (p.Tyr416Ter)
c.1281C>G (p.Tyr427Ter)
c.1299C>G (p.Tyr433Ter)
2g.127428865C>TCA1859565PROCc.1305C>T (p.Tyr435=)
c.629C>T
c.1407C>T (p.Tyr469=)
c.1488C>T (p.Tyr496=)
c.1470C>T (p.Tyr490=)
c.1368C>T (p.Tyr456=)
n.1332-601G>A
c.1548C>T (p.Tyr516=)
c.1650C>T (p.Tyr550=)
c.1590C>T (p.Tyr530=)
n.3607-601G>A
n.4043-601G>A
c.1473C>T (p.Tyr491=)
c.1491C>T (p.Tyr497=)
c.1248C>T (p.Tyr416=)
c.1281C>T (p.Tyr427=)
c.1299C>T (p.Tyr433=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428866A>CCA348406627PROCc.1306A>C (p.Thr436Pro)
c.630A>C
c.1408A>C (p.Thr470Pro)
c.1489A>C (p.Thr497Pro)
c.1471A>C (p.Thr491Pro)
c.1369A>C (p.Thr457Pro)
n.1332-602T>G
c.1549A>C (p.Thr517Pro)
c.1651A>C (p.Thr551Pro)
c.1591A>C (p.Thr531Pro)
n.3607-602T>G
n.4043-602T>G
c.1474A>C (p.Thr492Pro)
c.1492A>C (p.Thr498Pro)
c.1249A>C (p.Thr417Pro)
c.1282A>C (p.Thr428Pro)
c.1300A>C (p.Thr434Pro)
2g.127428866A>GCA348406628PROCc.1306A>G (p.Thr436Ala)
c.630A>G
c.1408A>G (p.Thr470Ala)
c.1489A>G (p.Thr497Ala)
c.1471A>G (p.Thr491Ala)
c.1369A>G (p.Thr457Ala)
n.1332-602T>C
c.1549A>G (p.Thr517Ala)
c.1651A>G (p.Thr551Ala)
c.1591A>G (p.Thr531Ala)
n.3607-602T>C
n.4043-602T>C
c.1474A>G (p.Thr492Ala)
c.1492A>G (p.Thr498Ala)
c.1249A>G (p.Thr417Ala)
c.1282A>G (p.Thr428Ala)
c.1300A>G (p.Thr434Ala)
2g.127428866A>TCA348406629PROCc.1306A>T (p.Thr436Ser)
c.630A>T
c.1408A>T (p.Thr470Ser)
c.1489A>T (p.Thr497Ser)
c.1471A>T (p.Thr491Ser)
c.1369A>T (p.Thr457Ser)
n.1332-602T>A
c.1549A>T (p.Thr517Ser)
c.1651A>T (p.Thr551Ser)
c.1591A>T (p.Thr531Ser)
n.3607-602T>A
n.4043-602T>A
c.1474A>T (p.Thr492Ser)
c.1492A>T (p.Thr498Ser)
c.1249A>T (p.Thr417Ser)
c.1282A>T (p.Thr428Ser)
c.1300A>T (p.Thr434Ser)
2g.127428867C>ACA348406630PROCc.1307C>A (p.Thr436Asn)
c.631C>A
c.1409C>A (p.Thr470Asn)
c.1490C>A (p.Thr497Asn)
c.1472C>A (p.Thr491Asn)
c.1370C>A (p.Thr457Asn)
n.1332-603G>T
c.1550C>A (p.Thr517Asn)
c.1652C>A (p.Thr551Asn)
c.1592C>A (p.Thr531Asn)
n.3607-603G>T
n.4043-603G>T
c.1475C>A (p.Thr492Asn)
c.1493C>A (p.Thr498Asn)
c.1250C>A (p.Thr417Asn)
c.1283C>A (p.Thr428Asn)
c.1301C>A (p.Thr434Asn)
2g.127428867C=CA1286884691PROCc.1307C= (p.Thr436=)
c.631C=
c.1409C= (p.Thr470=)
c.1490C= (p.Thr497=)
c.1472C= (p.Thr491=)
c.1370C= (p.Thr457=)
n.1332-603G=
c.1550C= (p.Thr517=)
c.1652C= (p.Thr551=)
c.1592C= (p.Thr531=)
n.3607-603G=
n.4043-603G=
c.1475C= (p.Thr492=)
c.1493C= (p.Thr498=)
c.1250C= (p.Thr417=)
c.1283C= (p.Thr428=)
c.1301C= (p.Thr434=)
2g.127428867C>GCA348406631PROCc.1307C>G (p.Thr436Ser)
c.631C>G
c.1409C>G (p.Thr470Ser)
c.1490C>G (p.Thr497Ser)
c.1472C>G (p.Thr491Ser)
c.1370C>G (p.Thr457Ser)
n.1332-603G>C
c.1550C>G (p.Thr517Ser)
c.1652C>G (p.Thr551Ser)
c.1592C>G (p.Thr531Ser)
n.3607-603G>C
n.4043-603G>C
c.1475C>G (p.Thr492Ser)
c.1493C>G (p.Thr498Ser)
c.1250C>G (p.Thr417Ser)
c.1283C>G (p.Thr428Ser)
c.1301C>G (p.Thr434Ser)
2g.127428867C>TCA348406632PROCc.1307C>T (p.Thr436Ile)
c.631C>T
c.1409C>T (p.Thr470Ile)
c.1490C>T (p.Thr497Ile)
c.1472C>T (p.Thr491Ile)
c.1370C>T (p.Thr457Ile)
n.1332-603G>A
c.1550C>T (p.Thr517Ile)
c.1652C>T (p.Thr551Ile)
c.1592C>T (p.Thr531Ile)
n.3607-603G>A
n.4043-603G>A
c.1475C>T (p.Thr492Ile)
c.1493C>T (p.Thr498Ile)
c.1250C>T (p.Thr417Ile)
c.1283C>T (p.Thr428Ile)
c.1301C>T (p.Thr434Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428868C>ACA428873066PROCc.1308C>A (p.Thr436=)
c.632C>A
c.1410C>A (p.Thr470=)
c.1491C>A (p.Thr497=)
c.1473C>A (p.Thr491=)
c.1371C>A (p.Thr457=)
n.1332-604G>T
c.1551C>A (p.Thr517=)
c.1653C>A (p.Thr551=)
c.1593C>A (p.Thr531=)
n.3607-604G>T
n.4043-604G>T
c.1476C>A (p.Thr492=)
c.1494C>A (p.Thr498=)
c.1251C>A (p.Thr417=)
c.1284C>A (p.Thr428=)
c.1302C>A (p.Thr434=)
2g.127428868C>GCA428873071PROCc.1308C>G (p.Thr436=)
c.632C>G
c.1410C>G (p.Thr470=)
c.1491C>G (p.Thr497=)
c.1473C>G (p.Thr491=)
c.1371C>G (p.Thr457=)
n.1332-604G>C
c.1551C>G (p.Thr517=)
c.1653C>G (p.Thr551=)
c.1593C>G (p.Thr531=)
n.3607-604G>C
n.4043-604G>C
c.1476C>G (p.Thr492=)
c.1494C>G (p.Thr498=)
c.1251C>G (p.Thr417=)
c.1284C>G (p.Thr428=)
c.1302C>G (p.Thr434=)
 gnomAD v4
2g.127428868C>TCA428873074PROCc.1308C>T (p.Thr436=)
c.632C>T
c.1410C>T (p.Thr470=)
c.1491C>T (p.Thr497=)
c.1473C>T (p.Thr491=)
c.1371C>T (p.Thr457=)
n.1332-604G>A
c.1551C>T (p.Thr517=)
c.1653C>T (p.Thr551=)
c.1593C>T (p.Thr531=)
n.3607-604G>A
n.4043-604G>A
c.1476C>T (p.Thr492=)
c.1494C>T (p.Thr498=)
c.1251C>T (p.Thr417=)
c.1284C>T (p.Thr428=)
c.1302C>T (p.Thr434=)
2g.127428869A>CCA348406635PROCc.1309A>C (p.Lys437Gln)
c.633A>C
c.1411A>C (p.Lys471Gln)
c.1492A>C (p.Lys498Gln)
c.1474A>C (p.Lys492Gln)
c.1372A>C (p.Lys458Gln)
n.1332-605T>G
c.1552A>C (p.Lys518Gln)
c.1654A>C (p.Lys552Gln)
c.1594A>C (p.Lys532Gln)
n.3607-605T>G
n.4043-605T>G
c.1477A>C (p.Lys493Gln)
c.1495A>C (p.Lys499Gln)
c.1252A>C (p.Lys418Gln)
c.1285A>C (p.Lys429Gln)
c.1303A>C (p.Lys435Gln)
2g.127428869A>GCA348406633PROCc.1309A>G (p.Lys437Glu)
c.633A>G
c.1411A>G (p.Lys471Glu)
c.1492A>G (p.Lys498Glu)
c.1474A>G (p.Lys492Glu)
c.1372A>G (p.Lys458Glu)
n.1332-605T>C
c.1552A>G (p.Lys518Glu)
c.1654A>G (p.Lys552Glu)
c.1594A>G (p.Lys532Glu)
n.3607-605T>C
n.4043-605T>C
c.1477A>G (p.Lys493Glu)
c.1495A>G (p.Lys499Glu)
c.1252A>G (p.Lys418Glu)
c.1285A>G (p.Lys429Glu)
c.1303A>G (p.Lys435Glu)
2g.127428869A>TCA348406634PROCc.1309A>T (p.Lys437Ter)
c.633A>T
c.1411A>T (p.Lys471Ter)
c.1492A>T (p.Lys498Ter)
c.1474A>T (p.Lys492Ter)
c.1372A>T (p.Lys458Ter)
n.1332-605T>A
c.1552A>T (p.Lys518Ter)
c.1654A>T (p.Lys552Ter)
c.1594A>T (p.Lys532Ter)
n.3607-605T>A
n.4043-605T>A
c.1477A>T (p.Lys493Ter)
c.1495A>T (p.Lys499Ter)
c.1252A>T (p.Lys418Ter)
c.1285A>T (p.Lys429Ter)
c.1303A>T (p.Lys435Ter)
2g.127428870A=CA1286884692PROCc.1310A= (p.Lys437=)
c.634A=
c.1412A= (p.Lys471=)
c.1493A= (p.Lys498=)
c.1475A= (p.Lys492=)
c.1373A= (p.Lys458=)
n.1332-606T=
c.1553A= (p.Lys518=)
c.1655A= (p.Lys552=)
c.1595A= (p.Lys532=)
n.3607-606T=
n.4043-606T=
c.1478A= (p.Lys493=)
c.1496A= (p.Lys499=)
c.1253A= (p.Lys418=)
c.1286A= (p.Lys429=)
c.1304A= (p.Lys435=)
2g.127428870A>CCA348406636PROCc.1310A>C (p.Lys437Thr)
c.634A>C
c.1412A>C (p.Lys471Thr)
c.1493A>C (p.Lys498Thr)
c.1475A>C (p.Lys492Thr)
c.1373A>C (p.Lys458Thr)
n.1332-606T>G
c.1553A>C (p.Lys518Thr)
c.1655A>C (p.Lys552Thr)
c.1595A>C (p.Lys532Thr)
n.3607-606T>G
n.4043-606T>G
c.1478A>C (p.Lys493Thr)
c.1496A>C (p.Lys499Thr)
c.1253A>C (p.Lys418Thr)
c.1286A>C (p.Lys429Thr)
c.1304A>C (p.Lys435Thr)
2g.127428870A>GCA348406637PROCc.1310A>G (p.Lys437Arg)
c.634A>G
c.1412A>G (p.Lys471Arg)
c.1493A>G (p.Lys498Arg)
c.1475A>G (p.Lys492Arg)
c.1373A>G (p.Lys458Arg)
n.1332-606T>C
c.1553A>G (p.Lys518Arg)
c.1655A>G (p.Lys552Arg)
c.1595A>G (p.Lys532Arg)
n.3607-606T>C
n.4043-606T>C
c.1478A>G (p.Lys493Arg)
c.1496A>G (p.Lys499Arg)
c.1253A>G (p.Lys418Arg)
c.1286A>G (p.Lys429Arg)
c.1304A>G (p.Lys435Arg)
 dbSNP gnomAD v2
2g.127428870A>TCA348406638PROCc.1310A>T (p.Lys437Ile)
c.634A>T
c.1412A>T (p.Lys471Ile)
c.1493A>T (p.Lys498Ile)
c.1475A>T (p.Lys492Ile)
c.1373A>T (p.Lys458Ile)
n.1332-606T>A
c.1553A>T (p.Lys518Ile)
c.1655A>T (p.Lys552Ile)
c.1595A>T (p.Lys532Ile)
n.3607-606T>A
n.4043-606T>A
c.1478A>T (p.Lys493Ile)
c.1496A>T (p.Lys499Ile)
c.1253A>T (p.Lys418Ile)
c.1286A>T (p.Lys429Ile)
c.1304A>T (p.Lys435Ile)
2g.127428871A>CCA348406639PROCc.1311A>C (p.Lys437Asn)
c.635A>C
c.1413A>C (p.Lys471Asn)
c.1494A>C (p.Lys498Asn)
c.1476A>C (p.Lys492Asn)
c.1374A>C (p.Lys458Asn)
n.1332-607T>G
c.1554A>C (p.Lys518Asn)
c.1656A>C (p.Lys552Asn)
c.1596A>C (p.Lys532Asn)
n.3607-607T>G
n.4043-607T>G
c.1479A>C (p.Lys493Asn)
c.1497A>C (p.Lys499Asn)
c.1254A>C (p.Lys418Asn)
c.1287A>C (p.Lys429Asn)
c.1305A>C (p.Lys435Asn)
2g.127428871A>GCA428873091PROCc.1311A>G (p.Lys437=)
c.635A>G
c.1413A>G (p.Lys471=)
c.1494A>G (p.Lys498=)
c.1476A>G (p.Lys492=)
c.1374A>G (p.Lys458=)
n.1332-607T>C
c.1554A>G (p.Lys518=)
c.1656A>G (p.Lys552=)
c.1596A>G (p.Lys532=)
n.3607-607T>C
n.4043-607T>C
c.1479A>G (p.Lys493=)
c.1497A>G (p.Lys499=)
c.1254A>G (p.Lys418=)
c.1287A>G (p.Lys429=)
c.1305A>G (p.Lys435=)
2g.127428871A>TCA348406640PROCc.1311A>T (p.Lys437Asn)
c.635A>T
c.1413A>T (p.Lys471Asn)
c.1494A>T (p.Lys498Asn)
c.1476A>T (p.Lys492Asn)
c.1374A>T (p.Lys458Asn)
n.1332-607T>A
c.1554A>T (p.Lys518Asn)
c.1656A>T (p.Lys552Asn)
c.1596A>T (p.Lys532Asn)
n.3607-607T>A
n.4043-607T>A
c.1479A>T (p.Lys493Asn)
c.1497A>T (p.Lys499Asn)
c.1254A>T (p.Lys418Asn)
c.1287A>T (p.Lys429Asn)
c.1305A>T (p.Lys435Asn)
2g.127428872G>ACA348406643PROCc.1312G>A (p.Val438Ile)
c.636G>A
c.1414G>A (p.Val472Ile)
c.1495G>A (p.Val499Ile)
c.1477G>A (p.Val493Ile)
c.1375G>A (p.Val459Ile)
n.1332-608C>T
c.1555G>A (p.Val519Ile)
c.1657G>A (p.Val553Ile)
c.1597G>A (p.Val533Ile)
n.3607-608C>T
n.4043-608C>T
c.1480G>A (p.Val494Ile)
c.1498G>A (p.Val500Ile)
c.1255G>A (p.Val419Ile)
c.1288G>A (p.Val430Ile)
c.1306G>A (p.Val436Ile)
 COSMIC
2g.127428872G>CCA348406642PROCc.1312G>C (p.Val438Leu)
c.636G>C
c.1414G>C (p.Val472Leu)
c.1495G>C (p.Val499Leu)
c.1477G>C (p.Val493Leu)
c.1375G>C (p.Val459Leu)
n.1332-608C>G
c.1555G>C (p.Val519Leu)
c.1657G>C (p.Val553Leu)
c.1597G>C (p.Val533Leu)
n.3607-608C>G
n.4043-608C>G
c.1480G>C (p.Val494Leu)
c.1498G>C (p.Val500Leu)
c.1255G>C (p.Val419Leu)
c.1288G>C (p.Val430Leu)
c.1306G>C (p.Val436Leu)
2g.127428872G>TCA348406641PROCc.1312G>T (p.Val438Phe)
c.636G>T
c.1414G>T (p.Val472Phe)
c.1495G>T (p.Val499Phe)
c.1477G>T (p.Val493Phe)
c.1375G>T (p.Val459Phe)
n.1332-608C>A
c.1555G>T (p.Val519Phe)
c.1657G>T (p.Val553Phe)
c.1597G>T (p.Val533Phe)
n.3607-608C>A
n.4043-608C>A
c.1480G>T (p.Val494Phe)
c.1498G>T (p.Val500Phe)
c.1255G>T (p.Val419Phe)
c.1288G>T (p.Val430Phe)
c.1306G>T (p.Val436Phe)
2g.127428873T>ACA348406644PROCc.1313T>A (p.Val438Asp)
c.637T>A
c.1415T>A (p.Val472Asp)
c.1496T>A (p.Val499Asp)
c.1478T>A (p.Val493Asp)
c.1376T>A (p.Val459Asp)
n.1332-609A>T
c.1556T>A (p.Val519Asp)
c.1658T>A (p.Val553Asp)
c.1598T>A (p.Val533Asp)
n.3607-609A>T
n.4043-609A>T
c.1481T>A (p.Val494Asp)
c.1499T>A (p.Val500Asp)
c.1256T>A (p.Val419Asp)
c.1289T>A (p.Val430Asp)
c.1307T>A (p.Val436Asp)
2g.127428873T>CCA348406645PROCc.1313T>C (p.Val438Ala)
c.637T>C
c.1415T>C (p.Val472Ala)
c.1496T>C (p.Val499Ala)
c.1478T>C (p.Val493Ala)
c.1376T>C (p.Val459Ala)
n.1332-609A>G
c.1556T>C (p.Val519Ala)
c.1658T>C (p.Val553Ala)
c.1598T>C (p.Val533Ala)
n.3607-609A>G
n.4043-609A>G
c.1481T>C (p.Val494Ala)
c.1499T>C (p.Val500Ala)
c.1256T>C (p.Val419Ala)
c.1289T>C (p.Val430Ala)
c.1307T>C (p.Val436Ala)
 ClinVar dbSNP gnomAD v4
2g.127428873T>GCA348406646PROCc.1313T>G (p.Val438Gly)
c.637T>G
c.1415T>G (p.Val472Gly)
c.1496T>G (p.Val499Gly)
c.1478T>G (p.Val493Gly)
c.1376T>G (p.Val459Gly)
n.1332-609A>C
c.1556T>G (p.Val519Gly)
c.1658T>G (p.Val553Gly)
c.1598T>G (p.Val533Gly)
n.3607-609A>C
n.4043-609A>C
c.1481T>G (p.Val494Gly)
c.1499T>G (p.Val500Gly)
c.1256T>G (p.Val419Gly)
c.1289T>G (p.Val430Gly)
c.1307T>G (p.Val436Gly)
2g.127428873T=CA1286884693PROCc.1313T= (p.Val438=)
c.637T=
c.1415T= (p.Val472=)
c.1496T= (p.Val499=)
c.1478T= (p.Val493=)
c.1376T= (p.Val459=)
n.1332-609A=
c.1556T= (p.Val519=)
c.1658T= (p.Val553=)
c.1598T= (p.Val533=)
n.3607-609A=
n.4043-609A=
c.1481T= (p.Val494=)
c.1499T= (p.Val500=)
c.1256T= (p.Val419=)
c.1289T= (p.Val430=)
c.1307T= (p.Val436=)
2g.127428874C>ACA428873110PROCc.1314C>A (p.Val438=)
c.638C>A
c.1416C>A (p.Val472=)
c.1497C>A (p.Val499=)
c.1479C>A (p.Val493=)
c.1377C>A (p.Val459=)
n.1332-610G>T
c.1557C>A (p.Val519=)
c.1659C>A (p.Val553=)
c.1599C>A (p.Val533=)
n.3607-610G>T
n.4043-610G>T
c.1482C>A (p.Val494=)
c.1500C>A (p.Val500=)
c.1257C>A (p.Val419=)
c.1290C>A (p.Val430=)
c.1308C>A (p.Val436=)
2g.127428874C=CA1286884694PROCc.1314C= (p.Val438=)
c.638C=
c.1416C= (p.Val472=)
c.1497C= (p.Val499=)
c.1479C= (p.Val493=)
c.1377C= (p.Val459=)
n.1332-610G=
c.1557C= (p.Val519=)
c.1659C= (p.Val553=)
c.1599C= (p.Val533=)
n.3607-610G=
n.4043-610G=
c.1482C= (p.Val494=)
c.1500C= (p.Val500=)
c.1257C= (p.Val419=)
c.1290C= (p.Val430=)
c.1308C= (p.Val436=)
2g.127428874C>GCA428873114PROCc.1314C>G (p.Val438=)
c.638C>G
c.1416C>G (p.Val472=)
c.1497C>G (p.Val499=)
c.1479C>G (p.Val493=)
c.1377C>G (p.Val459=)
n.1332-610G>C
c.1557C>G (p.Val519=)
c.1659C>G (p.Val553=)
c.1599C>G (p.Val533=)
n.3607-610G>C
n.4043-610G>C
c.1482C>G (p.Val494=)
c.1500C>G (p.Val500=)
c.1257C>G (p.Val419=)
c.1290C>G (p.Val430=)
c.1308C>G (p.Val436=)
2g.127428874C>TCA428873112PROCc.1314C>T (p.Val438=)
c.638C>T
c.1416C>T (p.Val472=)
c.1497C>T (p.Val499=)
c.1479C>T (p.Val493=)
c.1377C>T (p.Val459=)
n.1332-610G>A
c.1557C>T (p.Val519=)
c.1659C>T (p.Val553=)
c.1599C>T (p.Val533=)
n.3607-610G>A
n.4043-610G>A
c.1482C>T (p.Val494=)
c.1500C>T (p.Val500=)
c.1257C>T (p.Val419=)
c.1290C>T (p.Val430=)
c.1308C>T (p.Val436=)
 dbSNP
2g.127428875A>CCA348406647PROCc.1315A>C (p.Ser439Arg)
c.639A>C
c.1417A>C (p.Ser473Arg)
c.1498A>C (p.Ser500Arg)
c.1480A>C (p.Ser494Arg)
c.1378A>C (p.Ser460Arg)
n.1332-611T>G
c.1558A>C (p.Ser520Arg)
c.1660A>C (p.Ser554Arg)
c.1600A>C (p.Ser534Arg)
n.3607-611T>G
n.4043-611T>G
c.1483A>C (p.Ser495Arg)
c.1501A>C (p.Ser501Arg)
c.1258A>C (p.Ser420Arg)
c.1291A>C (p.Ser431Arg)
c.1309A>C (p.Ser437Arg)
2g.127428875A>GCA348406648PROCc.1315A>G (p.Ser439Gly)
c.639A>G
c.1417A>G (p.Ser473Gly)
c.1498A>G (p.Ser500Gly)
c.1480A>G (p.Ser494Gly)
c.1378A>G (p.Ser460Gly)
n.1332-611T>C
c.1558A>G (p.Ser520Gly)
c.1660A>G (p.Ser554Gly)
c.1600A>G (p.Ser534Gly)
n.3607-611T>C
n.4043-611T>C
c.1483A>G (p.Ser495Gly)
c.1501A>G (p.Ser501Gly)
c.1258A>G (p.Ser420Gly)
c.1291A>G (p.Ser431Gly)
c.1309A>G (p.Ser437Gly)
 gnomAD v4
2g.127428875A>TCA348406649PROCc.1315A>T (p.Ser439Cys)
c.639A>T
c.1417A>T (p.Ser473Cys)
c.1498A>T (p.Ser500Cys)
c.1480A>T (p.Ser494Cys)
c.1378A>T (p.Ser460Cys)
n.1332-611T>A
c.1558A>T (p.Ser520Cys)
c.1660A>T (p.Ser554Cys)
c.1600A>T (p.Ser534Cys)
n.3607-611T>A
n.4043-611T>A
c.1483A>T (p.Ser495Cys)
c.1501A>T (p.Ser501Cys)
c.1258A>T (p.Ser420Cys)
c.1291A>T (p.Ser431Cys)
c.1309A>T (p.Ser437Cys)
2g.127428876G>ACA348406650PROCc.1316G>A (p.Ser439Asn)
c.640G>A
c.1418G>A (p.Ser473Asn)
c.1499G>A (p.Ser500Asn)
c.1481G>A (p.Ser494Asn)
c.1379G>A (p.Ser460Asn)
n.1332-612C>T
c.1559G>A (p.Ser520Asn)
c.1661G>A (p.Ser554Asn)
c.1601G>A (p.Ser534Asn)
n.3607-612C>T
n.4043-612C>T
c.1484G>A (p.Ser495Asn)
c.1502G>A (p.Ser501Asn)
c.1259G>A (p.Ser420Asn)
c.1292G>A (p.Ser431Asn)
c.1310G>A (p.Ser437Asn)
2g.127428876G>CCA348406652PROCc.1316G>C (p.Ser439Thr)
c.640G>C
c.1418G>C (p.Ser473Thr)
c.1499G>C (p.Ser500Thr)
c.1481G>C (p.Ser494Thr)
c.1379G>C (p.Ser460Thr)
n.1332-612C>G
c.1559G>C (p.Ser520Thr)
c.1661G>C (p.Ser554Thr)
c.1601G>C (p.Ser534Thr)
n.3607-612C>G
n.4043-612C>G
c.1484G>C (p.Ser495Thr)
c.1502G>C (p.Ser501Thr)
c.1259G>C (p.Ser420Thr)
c.1292G>C (p.Ser431Thr)
c.1310G>C (p.Ser437Thr)
2g.127428876G>TCA348406651PROCc.1316G>T (p.Ser439Ile)
c.640G>T
c.1418G>T (p.Ser473Ile)
c.1499G>T (p.Ser500Ile)
c.1481G>T (p.Ser494Ile)
c.1379G>T (p.Ser460Ile)
n.1332-612C>A
c.1559G>T (p.Ser520Ile)
c.1661G>T (p.Ser554Ile)
c.1601G>T (p.Ser534Ile)
n.3607-612C>A
n.4043-612C>A
c.1484G>T (p.Ser495Ile)
c.1502G>T (p.Ser501Ile)
c.1259G>T (p.Ser420Ile)
c.1292G>T (p.Ser431Ile)
c.1310G>T (p.Ser437Ile)
 gnomAD v3 gnomAD v4
2g.127428877C>ACA348406653PROCc.1317C>A (p.Ser439Arg)
c.641C>A
c.1419C>A (p.Ser473Arg)
c.1500C>A (p.Ser500Arg)
c.1482C>A (p.Ser494Arg)
c.1380C>A (p.Ser460Arg)
n.1332-613G>T
c.1560C>A (p.Ser520Arg)
c.1662C>A (p.Ser554Arg)
c.1602C>A (p.Ser534Arg)
n.3607-613G>T
n.4043-613G>T
c.1485C>A (p.Ser495Arg)
c.1503C>A (p.Ser501Arg)
c.1260C>A (p.Ser420Arg)
c.1293C>A (p.Ser431Arg)
c.1311C>A (p.Ser437Arg)
2g.127428877C=CA1286884695PROCc.1317C= (p.Ser439=)
c.641C=
c.1419C= (p.Ser473=)
c.1500C= (p.Ser500=)
c.1482C= (p.Ser494=)
c.1380C= (p.Ser460=)
n.1332-613G=
c.1560C= (p.Ser520=)
c.1662C= (p.Ser554=)
c.1602C= (p.Ser534=)
n.3607-613G=
n.4043-613G=
c.1485C= (p.Ser495=)
c.1503C= (p.Ser501=)
c.1260C= (p.Ser420=)
c.1293C= (p.Ser431=)
c.1311C= (p.Ser437=)
2g.127428877C>GCA348406654PROCc.1317C>G (p.Ser439Arg)
c.641C>G
c.1419C>G (p.Ser473Arg)
c.1500C>G (p.Ser500Arg)
c.1482C>G (p.Ser494Arg)
c.1380C>G (p.Ser460Arg)
n.1332-613G>C
c.1560C>G (p.Ser520Arg)
c.1662C>G (p.Ser554Arg)
c.1602C>G (p.Ser534Arg)
n.3607-613G>C
n.4043-613G>C
c.1485C>G (p.Ser495Arg)
c.1503C>G (p.Ser501Arg)
c.1260C>G (p.Ser420Arg)
c.1293C>G (p.Ser431Arg)
c.1311C>G (p.Ser437Arg)
2g.127428877C>TCA428873136PROCc.1317C>T (p.Ser439=)
c.641C>T
c.1419C>T (p.Ser473=)
c.1500C>T (p.Ser500=)
c.1482C>T (p.Ser494=)
c.1380C>T (p.Ser460=)
n.1332-613G>A
c.1560C>T (p.Ser520=)
c.1662C>T (p.Ser554=)
c.1602C>T (p.Ser534=)
n.3607-613G>A
n.4043-613G>A
c.1485C>T (p.Ser495=)
c.1503C>T (p.Ser501=)
c.1260C>T (p.Ser420=)
c.1293C>T (p.Ser431=)
c.1311C>T (p.Ser437=)
 dbSNP gnomAD v2 gnomAD v4
2g.127428878C>ACA348406655PROCc.1318C>A (p.Arg440Ser)
c.642C>A
c.1420C>A (p.Arg474Ser)
c.1501C>A (p.Arg501Ser)
c.1483C>A (p.Arg495Ser)
c.1381C>A (p.Arg461Ser)
n.1332-614G>T
c.1561C>A (p.Arg521Ser)
c.1663C>A (p.Arg555Ser)
c.1603C>A (p.Arg535Ser)
n.3607-614G>T
n.4043-614G>T
c.1486C>A (p.Arg496Ser)
c.1504C>A (p.Arg502Ser)
c.1261C>A (p.Arg421Ser)
c.1294C>A (p.Arg432Ser)
c.1312C>A (p.Arg438Ser)
2g.127428878C=CA1286884696PROCc.1318C= (p.Arg440=)
c.642C=
c.1420C= (p.Arg474=)
c.1501C= (p.Arg501=)
c.1483C= (p.Arg495=)
c.1381C= (p.Arg461=)
n.1332-614G=
c.1561C= (p.Arg521=)
c.1663C= (p.Arg555=)
c.1603C= (p.Arg535=)
n.3607-614G=
n.4043-614G=
c.1486C= (p.Arg496=)
c.1504C= (p.Arg502=)
c.1261C= (p.Arg421=)
c.1294C= (p.Arg432=)
c.1312C= (p.Arg438=)
2g.127428878C>GCA348406656PROCc.1318C>G (p.Arg440Gly)
c.642C>G
c.1420C>G (p.Arg474Gly)
c.1501C>G (p.Arg501Gly)
c.1483C>G (p.Arg495Gly)
c.1381C>G (p.Arg461Gly)
n.1332-614G>C
c.1561C>G (p.Arg521Gly)
c.1663C>G (p.Arg555Gly)
c.1603C>G (p.Arg535Gly)
n.3607-614G>C
n.4043-614G>C
c.1486C>G (p.Arg496Gly)
c.1504C>G (p.Arg502Gly)
c.1261C>G (p.Arg421Gly)
c.1294C>G (p.Arg432Gly)
c.1312C>G (p.Arg438Gly)
2g.127428878C>TCA10612236PROCc.1318C>T (p.Arg440Cys)
c.642C>T
c.1420C>T (p.Arg474Cys)
c.1501C>T (p.Arg501Cys)
c.1483C>T (p.Arg495Cys)
c.1381C>T (p.Arg461Cys)
n.1332-614G>A
c.1561C>T (p.Arg521Cys)
c.1663C>T (p.Arg555Cys)
c.1603C>T (p.Arg535Cys)
n.3607-614G>A
n.4043-614G>A
c.1486C>T (p.Arg496Cys)
c.1504C>T (p.Arg502Cys)
c.1261C>T (p.Arg421Cys)
c.1294C>T (p.Arg432Cys)
c.1312C>T (p.Arg438Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127428879G>ACA1859566PROCc.1319G>A (p.Arg440His)
c.643G>A
c.1421G>A (p.Arg474His)
c.1502G>A (p.Arg501His)
c.1484G>A (p.Arg495His)
c.1382G>A (p.Arg461His)
n.1332-615C>T
c.1562G>A (p.Arg521His)
c.1664G>A (p.Arg555His)
c.1604G>A (p.Arg535His)
n.3607-615C>T
n.4043-615C>T
c.1487G>A (p.Arg496His)
c.1505G>A (p.Arg502His)
c.1262G>A (p.Arg421His)
c.1295G>A (p.Arg432His)
c.1313G>A (p.Arg438His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.127428879G>CCA348406657PROCc.1319G>C (p.Arg440Pro)
c.643G>C
c.1421G>C (p.Arg474Pro)
c.1502G>C (p.Arg501Pro)
c.1484G>C (p.Arg495Pro)
c.1382G>C (p.Arg461Pro)
n.1332-615C>G
c.1562G>C (p.Arg521Pro)
c.1664G>C (p.Arg555Pro)
c.1604G>C (p.Arg535Pro)
n.3607-615C>G
n.4043-615C>G
c.1487G>C (p.Arg496Pro)
c.1505G>C (p.Arg502Pro)
c.1262G>C (p.Arg421Pro)
c.1295G>C (p.Arg432Pro)
c.1313G>C (p.Arg438Pro)
2g.127428879G=CA1286884697PROCc.1319G= (p.Arg440=)
c.643G=
c.1421G= (p.Arg474=)
c.1502G= (p.Arg501=)
c.1484G= (p.Arg495=)
c.1382G= (p.Arg461=)
n.1332-615C=
c.1562G= (p.Arg521=)
c.1664G= (p.Arg555=)
c.1604G= (p.Arg535=)
n.3607-615C=
n.4043-615C=
c.1487G= (p.Arg496=)
c.1505G= (p.Arg502=)
c.1262G= (p.Arg421=)
c.1295G= (p.Arg432=)
c.1313G= (p.Arg438=)
2g.127428879G>TCA348406658PROCc.1319G>T (p.Arg440Leu)
c.643G>T
c.1421G>T (p.Arg474Leu)
c.1502G>T (p.Arg501Leu)
c.1484G>T (p.Arg495Leu)
c.1382G>T (p.Arg461Leu)
n.1332-615C>A
c.1562G>T (p.Arg521Leu)
c.1664G>T (p.Arg555Leu)
c.1604G>T (p.Arg535Leu)
n.3607-615C>A
n.4043-615C>A
c.1487G>T (p.Arg496Leu)
c.1505G>T (p.Arg502Leu)
c.1262G>T (p.Arg421Leu)
c.1295G>T (p.Arg432Leu)
c.1313G>T (p.Arg438Leu)
2g.127428880C>ACA428873154PROCc.1320C>A (p.Arg440=)
c.644C>A
c.1422C>A (p.Arg474=)
c.1503C>A (p.Arg501=)
c.1485C>A (p.Arg495=)
c.1383C>A (p.Arg461=)
n.1332-616G>T
c.1563C>A (p.Arg521=)
c.1665C>A (p.Arg555=)
c.1605C>A (p.Arg535=)
n.3607-616G>T
n.4043-616G>T
c.1488C>A (p.Arg496=)
c.1506C>A (p.Arg502=)
c.1263C>A (p.Arg421=)
c.1296C>A (p.Arg432=)
c.1314C>A (p.Arg438=)
2g.127428880C>GCA428873156PROCc.1320C>G (p.Arg440=)
c.644C>G
c.1422C>G (p.Arg474=)
c.1503C>G (p.Arg501=)
c.1485C>G (p.Arg495=)
c.1383C>G (p.Arg461=)
n.1332-616G>C
c.1563C>G (p.Arg521=)
c.1665C>G (p.Arg555=)
c.1605C>G (p.Arg535=)
n.3607-616G>C
n.4043-616G>C
c.1488C>G (p.Arg496=)
c.1506C>G (p.Arg502=)
c.1263C>G (p.Arg421=)
c.1296C>G (p.Arg432=)
c.1314C>G (p.Arg438=)
2g.127428880C>TCA428873159PROCc.1320C>T (p.Arg440=)
c.644C>T
c.1422C>T (p.Arg474=)
c.1503C>T (p.Arg501=)
c.1485C>T (p.Arg495=)
c.1383C>T (p.Arg461=)
n.1332-616G>A
c.1563C>T (p.Arg521=)
c.1665C>T (p.Arg555=)
c.1605C>T (p.Arg535=)
n.3607-616G>A
n.4043-616G>A
c.1488C>T (p.Arg496=)
c.1506C>T (p.Arg502=)
c.1263C>T (p.Arg421=)
c.1296C>T (p.Arg432=)
c.1314C>T (p.Arg438=)
2g.127428881T>ACA348406659PROCc.1321T>A (p.Tyr441Asn)
c.645T>A
c.1423T>A (p.Tyr475Asn)
c.1504T>A (p.Tyr502Asn)
c.1486T>A (p.Tyr496Asn)
c.1384T>A (p.Tyr462Asn)
n.1332-617A>T
c.1564T>A (p.Tyr522Asn)
c.1666T>A (p.Tyr556Asn)
c.1606T>A (p.Tyr536Asn)
n.3607-617A>T
n.4043-617A>T
c.1489T>A (p.Tyr497Asn)
c.1507T>A (p.Tyr503Asn)
c.1264T>A (p.Tyr422Asn)
c.1297T>A (p.Tyr433Asn)
c.1315T>A (p.Tyr439Asn)
2g.127428881T>CCA1859567PROCc.1321T>C (p.Tyr441His)
c.645T>C
c.1423T>C (p.Tyr475His)
c.1504T>C (p.Tyr502His)
c.1486T>C (p.Tyr496His)
c.1384T>C (p.Tyr462His)
n.1332-617A>G
c.1564T>C (p.Tyr522His)
c.1666T>C (p.Tyr556His)
c.1606T>C (p.Tyr536His)
n.3607-617A>G
n.4043-617A>G
c.1489T>C (p.Tyr497His)
c.1507T>C (p.Tyr503His)
c.1264T>C (p.Tyr422His)
c.1297T>C (p.Tyr433His)
c.1315T>C (p.Tyr439His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428881T>GCA348406660PROCc.1321T>G (p.Tyr441Asp)
c.645T>G
c.1423T>G (p.Tyr475Asp)
c.1504T>G (p.Tyr502Asp)
c.1486T>G (p.Tyr496Asp)
c.1384T>G (p.Tyr462Asp)
n.1332-617A>C
c.1564T>G (p.Tyr522Asp)
c.1666T>G (p.Tyr556Asp)
c.1606T>G (p.Tyr536Asp)
n.3607-617A>C
n.4043-617A>C
c.1489T>G (p.Tyr497Asp)
c.1507T>G (p.Tyr503Asp)
c.1264T>G (p.Tyr422Asp)
c.1297T>G (p.Tyr433Asp)
c.1315T>G (p.Tyr439Asp)
2g.127428881T=CA1286884698PROCc.1321T= (p.Tyr441=)
c.645T=
c.1423T= (p.Tyr475=)
c.1504T= (p.Tyr502=)
c.1486T= (p.Tyr496=)
c.1384T= (p.Tyr462=)
n.1332-617A=
c.1564T= (p.Tyr522=)
c.1666T= (p.Tyr556=)
c.1606T= (p.Tyr536=)
n.3607-617A=
n.4043-617A=
c.1489T= (p.Tyr497=)
c.1507T= (p.Tyr503=)
c.1264T= (p.Tyr422=)
c.1297T= (p.Tyr433=)
c.1315T= (p.Tyr439=)
2g.127428882A>CCA348406661PROCc.1322A>C (p.Tyr441Ser)
c.646A>C
c.1424A>C (p.Tyr475Ser)
c.1505A>C (p.Tyr502Ser)
c.1487A>C (p.Tyr496Ser)
c.1385A>C (p.Tyr462Ser)
n.1332-618T>G
c.1565A>C (p.Tyr522Ser)
c.1667A>C (p.Tyr556Ser)
c.1607A>C (p.Tyr536Ser)
n.3607-618T>G
n.4043-618T>G
c.1490A>C (p.Tyr497Ser)
c.1508A>C (p.Tyr503Ser)
c.1265A>C (p.Tyr422Ser)
c.1298A>C (p.Tyr433Ser)
c.1316A>C (p.Tyr439Ser)
2g.127428882A>GCA348406663PROCc.1322A>G (p.Tyr441Cys)
c.646A>G
c.1424A>G (p.Tyr475Cys)
c.1505A>G (p.Tyr502Cys)
c.1487A>G (p.Tyr496Cys)
c.1385A>G (p.Tyr462Cys)
n.1332-618T>C
c.1565A>G (p.Tyr522Cys)
c.1667A>G (p.Tyr556Cys)
c.1607A>G (p.Tyr536Cys)
n.3607-618T>C
n.4043-618T>C
c.1490A>G (p.Tyr497Cys)
c.1508A>G (p.Tyr503Cys)
c.1265A>G (p.Tyr422Cys)
c.1298A>G (p.Tyr433Cys)
c.1316A>G (p.Tyr439Cys)
2g.127428882A>TCA348406662PROCc.1322A>T (p.Tyr441Phe)
c.646A>T
c.1424A>T (p.Tyr475Phe)
c.1505A>T (p.Tyr502Phe)
c.1487A>T (p.Tyr496Phe)
c.1385A>T (p.Tyr462Phe)
n.1332-618T>A
c.1565A>T (p.Tyr522Phe)
c.1667A>T (p.Tyr556Phe)
c.1607A>T (p.Tyr536Phe)
n.3607-618T>A
n.4043-618T>A
c.1490A>T (p.Tyr497Phe)
c.1508A>T (p.Tyr503Phe)
c.1265A>T (p.Tyr422Phe)
c.1298A>T (p.Tyr433Phe)
c.1316A>T (p.Tyr439Phe)
 gnomAD v4
2g.127428883C>ACA348406664PROCc.1323C>A (p.Tyr441Ter)
c.647C>A
c.1425C>A (p.Tyr475Ter)
c.1506C>A (p.Tyr502Ter)
c.1488C>A (p.Tyr496Ter)
c.1386C>A (p.Tyr462Ter)
n.1332-619G>T
c.1566C>A (p.Tyr522Ter)
c.1668C>A (p.Tyr556Ter)
c.1608C>A (p.Tyr536Ter)
n.3607-619G>T
n.4043-619G>T
c.1491C>A (p.Tyr497Ter)
c.1509C>A (p.Tyr503Ter)
c.1266C>A (p.Tyr422Ter)
c.1299C>A (p.Tyr433Ter)
c.1317C>A (p.Tyr439Ter)
2g.127428883C>GCA348406665PROCc.1323C>G (p.Tyr441Ter)
c.647C>G
c.1425C>G (p.Tyr475Ter)
c.1506C>G (p.Tyr502Ter)
c.1488C>G (p.Tyr496Ter)
c.1386C>G (p.Tyr462Ter)
n.1332-619G>C
c.1566C>G (p.Tyr522Ter)
c.1668C>G (p.Tyr556Ter)
c.1608C>G (p.Tyr536Ter)
n.3607-619G>C
n.4043-619G>C
c.1491C>G (p.Tyr497Ter)
c.1509C>G (p.Tyr503Ter)
c.1266C>G (p.Tyr422Ter)
c.1299C>G (p.Tyr433Ter)
c.1317C>G (p.Tyr439Ter)
2g.127428883C>TCA428873173PROCc.1323C>T (p.Tyr441=)
c.647C>T
c.1425C>T (p.Tyr475=)
c.1506C>T (p.Tyr502=)
c.1488C>T (p.Tyr496=)
c.1386C>T (p.Tyr462=)
n.1332-619G>A
c.1566C>T (p.Tyr522=)
c.1668C>T (p.Tyr556=)
c.1608C>T (p.Tyr536=)
n.3607-619G>A
n.4043-619G>A
c.1491C>T (p.Tyr497=)
c.1509C>T (p.Tyr503=)
c.1266C>T (p.Tyr422=)
c.1299C>T (p.Tyr433=)
c.1317C>T (p.Tyr439=)
2g.127428884C>ACA348406666PROCc.1324C>A (p.Leu442Ile)
c.648C>A
c.1426C>A (p.Leu476Ile)
c.1507C>A (p.Leu503Ile)
c.1489C>A (p.Leu497Ile)
c.1387C>A (p.Leu463Ile)
n.1332-620G>T
c.1567C>A (p.Leu523Ile)
c.1669C>A (p.Leu557Ile)
c.1609C>A (p.Leu537Ile)
n.3607-620G>T
n.4043-620G>T
c.1492C>A (p.Leu498Ile)
c.1510C>A (p.Leu504Ile)
c.1267C>A (p.Leu423Ile)
c.1300C>A (p.Leu434Ile)
c.1318C>A (p.Leu440Ile)
 dbSNP gnomAD v4
2g.127428884C=CA1286884699PROCc.1324C= (p.Leu442=)
c.648C=
c.1426C= (p.Leu476=)
c.1507C= (p.Leu503=)
c.1489C= (p.Leu497=)
c.1387C= (p.Leu463=)
n.1332-620G=
c.1567C= (p.Leu523=)
c.1669C= (p.Leu557=)
c.1609C= (p.Leu537=)
n.3607-620G=
n.4043-620G=
c.1492C= (p.Leu498=)
c.1510C= (p.Leu504=)
c.1267C= (p.Leu423=)
c.1300C= (p.Leu434=)
c.1318C= (p.Leu440=)
2g.127428884C>GCA348406667PROCc.1324C>G (p.Leu442Val)
c.648C>G
c.1426C>G (p.Leu476Val)
c.1507C>G (p.Leu503Val)
c.1489C>G (p.Leu497Val)
c.1387C>G (p.Leu463Val)
n.1332-620G>C
c.1567C>G (p.Leu523Val)
c.1669C>G (p.Leu557Val)
c.1609C>G (p.Leu537Val)
n.3607-620G>C
n.4043-620G>C
c.1492C>G (p.Leu498Val)
c.1510C>G (p.Leu504Val)
c.1267C>G (p.Leu423Val)
c.1300C>G (p.Leu434Val)
c.1318C>G (p.Leu440Val)
2g.127428884C>TCA348406668PROCc.1324C>T (p.Leu442Phe)
c.648C>T
c.1426C>T (p.Leu476Phe)
c.1507C>T (p.Leu503Phe)
c.1489C>T (p.Leu497Phe)
c.1387C>T (p.Leu463Phe)
n.1332-620G>A
c.1567C>T (p.Leu523Phe)
c.1669C>T (p.Leu557Phe)
c.1609C>T (p.Leu537Phe)
n.3607-620G>A
n.4043-620G>A
c.1492C>T (p.Leu498Phe)
c.1510C>T (p.Leu504Phe)
c.1267C>T (p.Leu423Phe)
c.1300C>T (p.Leu434Phe)
c.1318C>T (p.Leu440Phe)
2g.127428885T>ACA348406669PROCc.1325T>A (p.Leu442His)
c.649T>A
c.1427T>A (p.Leu476His)
c.1508T>A (p.Leu503His)
c.1490T>A (p.Leu497His)
c.1388T>A (p.Leu463His)
n.1332-621A>T
c.1568T>A (p.Leu523His)
c.1670T>A (p.Leu557His)
c.1610T>A (p.Leu537His)
n.3607-621A>T
n.4043-621A>T
c.1493T>A (p.Leu498His)
c.1511T>A (p.Leu504His)
c.1268T>A (p.Leu423His)
c.1301T>A (p.Leu434His)
c.1319T>A (p.Leu440His)
2g.127428885T>CCA348406670PROCc.1325T>C (p.Leu442Pro)
c.649T>C
c.1427T>C (p.Leu476Pro)
c.1508T>C (p.Leu503Pro)
c.1490T>C (p.Leu497Pro)
c.1388T>C (p.Leu463Pro)
n.1332-621A>G
c.1568T>C (p.Leu523Pro)
c.1670T>C (p.Leu557Pro)
c.1610T>C (p.Leu537Pro)
n.3607-621A>G
n.4043-621A>G
c.1493T>C (p.Leu498Pro)
c.1511T>C (p.Leu504Pro)
c.1268T>C (p.Leu423Pro)
c.1301T>C (p.Leu434Pro)
c.1319T>C (p.Leu440Pro)
2g.127428885T>GCA348406671PROCc.1325T>G (p.Leu442Arg)
c.649T>G
c.1427T>G (p.Leu476Arg)
c.1508T>G (p.Leu503Arg)
c.1490T>G (p.Leu497Arg)
c.1388T>G (p.Leu463Arg)
n.1332-621A>C
c.1568T>G (p.Leu523Arg)
c.1670T>G (p.Leu557Arg)
c.1610T>G (p.Leu537Arg)
n.3607-621A>C
n.4043-621A>C
c.1493T>G (p.Leu498Arg)
c.1511T>G (p.Leu504Arg)
c.1268T>G (p.Leu423Arg)
c.1301T>G (p.Leu434Arg)
c.1319T>G (p.Leu440Arg)
2g.127428886C>ACA428873191PROCc.1326C>A (p.Leu442=)
c.650C>A
c.1428C>A (p.Leu476=)
c.1509C>A (p.Leu503=)
c.1491C>A (p.Leu497=)
c.1389C>A (p.Leu463=)
n.1332-622G>T
c.1569C>A (p.Leu523=)
c.1671C>A (p.Leu557=)
c.1611C>A (p.Leu537=)
n.3607-622G>T
n.4043-622G>T
c.1494C>A (p.Leu498=)
c.1512C>A (p.Leu504=)
c.1269C>A (p.Leu423=)
c.1302C>A (p.Leu434=)
c.1320C>A (p.Leu440=)
2g.127428886C=CA1286884700PROCc.1326C= (p.Leu442=)
c.650C=
c.1428C= (p.Leu476=)
c.1509C= (p.Leu503=)
c.1491C= (p.Leu497=)
c.1389C= (p.Leu463=)
n.1332-622G=
c.1569C= (p.Leu523=)
c.1671C= (p.Leu557=)
c.1611C= (p.Leu537=)
n.3607-622G=
n.4043-622G=
c.1494C= (p.Leu498=)
c.1512C= (p.Leu504=)
c.1269C= (p.Leu423=)
c.1302C= (p.Leu434=)
c.1320C= (p.Leu440=)
2g.127428886C>GCA55351504PROCc.1326C>G (p.Leu442=)
c.650C>G
c.1428C>G (p.Leu476=)
c.1509C>G (p.Leu503=)
c.1491C>G (p.Leu497=)
c.1389C>G (p.Leu463=)
n.1332-622G>C
c.1569C>G (p.Leu523=)
c.1671C>G (p.Leu557=)
c.1611C>G (p.Leu537=)
n.3607-622G>C
n.4043-622G>C
c.1494C>G (p.Leu498=)
c.1512C>G (p.Leu504=)
c.1269C>G (p.Leu423=)
c.1302C>G (p.Leu434=)
c.1320C>G (p.Leu440=)
 dbSNP gnomAD v4
2g.127428886C>TCA1859568PROCc.1326C>T (p.Leu442=)
c.650C>T
c.1428C>T (p.Leu476=)
c.1509C>T (p.Leu503=)
c.1491C>T (p.Leu497=)
c.1389C>T (p.Leu463=)
n.1332-622G>A
c.1569C>T (p.Leu523=)
c.1671C>T (p.Leu557=)
c.1611C>T (p.Leu537=)
n.3607-622G>A
n.4043-622G>A
c.1494C>T (p.Leu498=)
c.1512C>T (p.Leu504=)
c.1269C>T (p.Leu423=)
c.1302C>T (p.Leu434=)
c.1320C>T (p.Leu440=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428887G>ACA348406672PROCc.1327G>A (p.Asp443Asn)
c.651G>A
c.1429G>A (p.Asp477Asn)
c.1510G>A (p.Asp504Asn)
c.1492G>A (p.Asp498Asn)
c.1390G>A (p.Asp464Asn)
n.1332-623C>T
c.1570G>A (p.Asp524Asn)
c.1672G>A (p.Asp558Asn)
c.1612G>A (p.Asp538Asn)
n.3607-623C>T
n.4043-623C>T
c.1495G>A (p.Asp499Asn)
c.1513G>A (p.Asp505Asn)
c.1270G>A (p.Asp424Asn)
c.1303G>A (p.Asp435Asn)
c.1321G>A (p.Asp441Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428887G>CCA348406673PROCc.1327G>C (p.Asp443His)
c.651G>C
c.1429G>C (p.Asp477His)
c.1510G>C (p.Asp504His)
c.1492G>C (p.Asp498His)
c.1390G>C (p.Asp464His)
n.1332-623C>G
c.1570G>C (p.Asp524His)
c.1672G>C (p.Asp558His)
c.1612G>C (p.Asp538His)
n.3607-623C>G
n.4043-623C>G
c.1495G>C (p.Asp499His)
c.1513G>C (p.Asp505His)
c.1270G>C (p.Asp424His)
c.1303G>C (p.Asp435His)
c.1321G>C (p.Asp441His)
 gnomAD v4
2g.127428887G=CA1286884701PROCc.1327G= (p.Asp443=)
c.651G=
c.1429G= (p.Asp477=)
c.1510G= (p.Asp504=)
c.1492G= (p.Asp498=)
c.1390G= (p.Asp464=)
n.1332-623C=
c.1570G= (p.Asp524=)
c.1672G= (p.Asp558=)
c.1612G= (p.Asp538=)
n.3607-623C=
n.4043-623C=
c.1495G= (p.Asp499=)
c.1513G= (p.Asp505=)
c.1270G= (p.Asp424=)
c.1303G= (p.Asp435=)
c.1321G= (p.Asp441=)
2g.127428887G>TCA348406674PROCc.1327G>T (p.Asp443Tyr)
c.651G>T
c.1429G>T (p.Asp477Tyr)
c.1510G>T (p.Asp504Tyr)
c.1492G>T (p.Asp498Tyr)
c.1390G>T (p.Asp464Tyr)
n.1332-623C>A
c.1570G>T (p.Asp524Tyr)
c.1672G>T (p.Asp558Tyr)
c.1612G>T (p.Asp538Tyr)
n.3607-623C>A
n.4043-623C>A
c.1495G>T (p.Asp499Tyr)
c.1513G>T (p.Asp505Tyr)
c.1270G>T (p.Asp424Tyr)
c.1303G>T (p.Asp435Tyr)
c.1321G>T (p.Asp441Tyr)
 gnomAD v4
2g.127428888A>CCA348406677PROCc.1328A>C (p.Asp443Ala)
c.652A>C
c.1430A>C (p.Asp477Ala)
c.1511A>C (p.Asp504Ala)
c.1493A>C (p.Asp498Ala)
c.1391A>C (p.Asp464Ala)
n.1332-624T>G
c.1571A>C (p.Asp524Ala)
c.1673A>C (p.Asp558Ala)
c.1613A>C (p.Asp538Ala)
n.3607-624T>G
n.4043-624T>G
c.1496A>C (p.Asp499Ala)
c.1514A>C (p.Asp505Ala)
c.1271A>C (p.Asp424Ala)
c.1304A>C (p.Asp435Ala)
c.1322A>C (p.Asp441Ala)
2g.127428888A>GCA348406676PROCc.1328A>G (p.Asp443Gly)
c.652A>G
c.1430A>G (p.Asp477Gly)
c.1511A>G (p.Asp504Gly)
c.1493A>G (p.Asp498Gly)
c.1391A>G (p.Asp464Gly)
n.1332-624T>C
c.1571A>G (p.Asp524Gly)
c.1673A>G (p.Asp558Gly)
c.1613A>G (p.Asp538Gly)
n.3607-624T>C
n.4043-624T>C
c.1496A>G (p.Asp499Gly)
c.1514A>G (p.Asp505Gly)
c.1271A>G (p.Asp424Gly)
c.1304A>G (p.Asp435Gly)
c.1322A>G (p.Asp441Gly)
2g.127428888A>TCA348406675PROCc.1328A>T (p.Asp443Val)
c.652A>T
c.1430A>T (p.Asp477Val)
c.1511A>T (p.Asp504Val)
c.1493A>T (p.Asp498Val)
c.1391A>T (p.Asp464Val)
n.1332-624T>A
c.1571A>T (p.Asp524Val)
c.1673A>T (p.Asp558Val)
c.1613A>T (p.Asp538Val)
n.3607-624T>A
n.4043-624T>A
c.1496A>T (p.Asp499Val)
c.1514A>T (p.Asp505Val)
c.1271A>T (p.Asp424Val)
c.1304A>T (p.Asp435Val)
c.1322A>T (p.Asp441Val)
2g.127428889C>ACA348406678PROCc.1329C>A (p.Asp443Glu)
c.653C>A
c.1431C>A (p.Asp477Glu)
c.1512C>A (p.Asp504Glu)
c.1494C>A (p.Asp498Glu)
c.1392C>A (p.Asp464Glu)
n.1332-625G>T
c.1572C>A (p.Asp524Glu)
c.1674C>A (p.Asp558Glu)
c.1614C>A (p.Asp538Glu)
n.3607-625G>T
n.4043-625G>T
c.1497C>A (p.Asp499Glu)
c.1515C>A (p.Asp505Glu)
c.1272C>A (p.Asp424Glu)
c.1305C>A (p.Asp435Glu)
c.1323C>A (p.Asp441Glu)
2g.127428889C>GCA348406679PROCc.1329C>G (p.Asp443Glu)
c.653C>G
c.1431C>G (p.Asp477Glu)
c.1512C>G (p.Asp504Glu)
c.1494C>G (p.Asp498Glu)
c.1392C>G (p.Asp464Glu)
n.1332-625G>C
c.1572C>G (p.Asp524Glu)
c.1674C>G (p.Asp558Glu)
c.1614C>G (p.Asp538Glu)
n.3607-625G>C
n.4043-625G>C
c.1497C>G (p.Asp499Glu)
c.1515C>G (p.Asp505Glu)
c.1272C>G (p.Asp424Glu)
c.1305C>G (p.Asp435Glu)
c.1323C>G (p.Asp441Glu)
2g.127428889C>TCA428873217PROCc.1329C>T (p.Asp443=)
c.653C>T
c.1431C>T (p.Asp477=)
c.1512C>T (p.Asp504=)
c.1494C>T (p.Asp498=)
c.1392C>T (p.Asp464=)
n.1332-625G>A
c.1572C>T (p.Asp524=)
c.1674C>T (p.Asp558=)
c.1614C>T (p.Asp538=)
n.3607-625G>A
n.4043-625G>A
c.1497C>T (p.Asp499=)
c.1515C>T (p.Asp505=)
c.1272C>T (p.Asp424=)
c.1305C>T (p.Asp435=)
c.1323C>T (p.Asp441=)
 ClinVar
2g.127428890T>ACA348406680PROCc.1330T>A (p.Trp444Arg)
c.654T>A
c.1432T>A (p.Trp478Arg)
c.1513T>A (p.Trp505Arg)
c.1495T>A (p.Trp499Arg)
c.1393T>A (p.Trp465Arg)
n.1332-626A>T
c.1573T>A (p.Trp525Arg)
c.1675T>A (p.Trp559Arg)
c.1615T>A (p.Trp539Arg)
n.3607-626A>T
n.4043-626A>T
c.1498T>A (p.Trp500Arg)
c.1516T>A (p.Trp506Arg)
c.1273T>A (p.Trp425Arg)
c.1306T>A (p.Trp436Arg)
c.1324T>A (p.Trp442Arg)
2g.127428890T>CCA348406681PROCc.1330T>C (p.Trp444Arg)
c.654T>C
c.1432T>C (p.Trp478Arg)
c.1513T>C (p.Trp505Arg)
c.1495T>C (p.Trp499Arg)
c.1393T>C (p.Trp465Arg)
n.1332-626A>G
c.1573T>C (p.Trp525Arg)
c.1675T>C (p.Trp559Arg)
c.1615T>C (p.Trp539Arg)
n.3607-626A>G
n.4043-626A>G
c.1498T>C (p.Trp500Arg)
c.1516T>C (p.Trp506Arg)
c.1273T>C (p.Trp425Arg)
c.1306T>C (p.Trp436Arg)
c.1324T>C (p.Trp442Arg)
 dbSNP
2g.127428890T>GCA348406682PROCc.1330T>G (p.Trp444Gly)
c.654T>G
c.1432T>G (p.Trp478Gly)
c.1513T>G (p.Trp505Gly)
c.1495T>G (p.Trp499Gly)
c.1393T>G (p.Trp465Gly)
n.1332-626A>C
c.1573T>G (p.Trp525Gly)
c.1675T>G (p.Trp559Gly)
c.1615T>G (p.Trp539Gly)
n.3607-626A>C
n.4043-626A>C
c.1498T>G (p.Trp500Gly)
c.1516T>G (p.Trp506Gly)
c.1273T>G (p.Trp425Gly)
c.1306T>G (p.Trp436Gly)
c.1324T>G (p.Trp442Gly)
2g.127428890T=CA1286884702PROCc.1330T= (p.Trp444=)
c.654T=
c.1432T= (p.Trp478=)
c.1513T= (p.Trp505=)
c.1495T= (p.Trp499=)
c.1393T= (p.Trp465=)
n.1332-626A=
c.1573T= (p.Trp525=)
c.1675T= (p.Trp559=)
c.1615T= (p.Trp539=)
n.3607-626A=
n.4043-626A=
c.1498T= (p.Trp500=)
c.1516T= (p.Trp506=)
c.1273T= (p.Trp425=)
c.1306T= (p.Trp436=)
c.1324T= (p.Trp442=)
2g.127428891G>ACA348406683PROCc.1331G>A (p.Trp444Ter)
c.655G>A
c.1433G>A (p.Trp478Ter)
c.1514G>A (p.Trp505Ter)
c.1496G>A (p.Trp499Ter)
c.1394G>A (p.Trp465Ter)
n.1332-627C>T
c.1574G>A (p.Trp525Ter)
c.1676G>A (p.Trp559Ter)
c.1616G>A (p.Trp539Ter)
n.3607-627C>T
n.4043-627C>T
c.1499G>A (p.Trp500Ter)
c.1517G>A (p.Trp506Ter)
c.1274G>A (p.Trp425Ter)
c.1307G>A (p.Trp436Ter)
c.1325G>A (p.Trp442Ter)
 ClinVar dbSNP COSMIC
2g.127428891G>CCA348406684PROCc.1331G>C (p.Trp444Ser)
c.655G>C
c.1433G>C (p.Trp478Ser)
c.1514G>C (p.Trp505Ser)
c.1496G>C (p.Trp499Ser)
c.1394G>C (p.Trp465Ser)
n.1332-627C>G
c.1574G>C (p.Trp525Ser)
c.1676G>C (p.Trp559Ser)
c.1616G>C (p.Trp539Ser)
n.3607-627C>G
n.4043-627C>G
c.1499G>C (p.Trp500Ser)
c.1517G>C (p.Trp506Ser)
c.1274G>C (p.Trp425Ser)
c.1307G>C (p.Trp436Ser)
c.1325G>C (p.Trp442Ser)
2g.127428891G=CA1286884703PROCc.1331G= (p.Trp444=)
c.655G=
c.1433G= (p.Trp478=)
c.1514G= (p.Trp505=)
c.1496G= (p.Trp499=)
c.1394G= (p.Trp465=)
n.1332-627C=
c.1574G= (p.Trp525=)
c.1676G= (p.Trp559=)
c.1616G= (p.Trp539=)
n.3607-627C=
n.4043-627C=
c.1499G= (p.Trp500=)
c.1517G= (p.Trp506=)
c.1274G= (p.Trp425=)
c.1307G= (p.Trp436=)
c.1325G= (p.Trp442=)
2g.127428891G>TCA348406685PROCc.1331G>T (p.Trp444Leu)
c.655G>T
c.1433G>T (p.Trp478Leu)
c.1514G>T (p.Trp505Leu)
c.1496G>T (p.Trp499Leu)
c.1394G>T (p.Trp465Leu)
n.1332-627C>A
c.1574G>T (p.Trp525Leu)
c.1676G>T (p.Trp559Leu)
c.1616G>T (p.Trp539Leu)
n.3607-627C>A
n.4043-627C>A
c.1499G>T (p.Trp500Leu)
c.1517G>T (p.Trp506Leu)
c.1274G>T (p.Trp425Leu)
c.1307G>T (p.Trp436Leu)
c.1325G>T (p.Trp442Leu)
2g.127428892G>ACA348406686PROCc.1332G>A (p.Trp444Ter)
c.656G>A
c.1434G>A (p.Trp478Ter)
c.1515G>A (p.Trp505Ter)
c.1497G>A (p.Trp499Ter)
c.1395G>A (p.Trp465Ter)
n.1332-628C>T
c.1575G>A (p.Trp525Ter)
c.1677G>A (p.Trp559Ter)
c.1617G>A (p.Trp539Ter)
n.3607-628C>T
n.4043-628C>T
c.1500G>A (p.Trp500Ter)
c.1518G>A (p.Trp506Ter)
c.1275G>A (p.Trp425Ter)
c.1308G>A (p.Trp436Ter)
c.1326G>A (p.Trp442Ter)
2g.127428892G>CCA114387PROCc.1332G>C (p.Trp444Cys)
c.656G>C
c.1434G>C (p.Trp478Cys)
c.1515G>C (p.Trp505Cys)
c.1497G>C (p.Trp499Cys)
c.1395G>C (p.Trp465Cys)
n.1332-628C>G
c.1575G>C (p.Trp525Cys)
c.1677G>C (p.Trp559Cys)
c.1617G>C (p.Trp539Cys)
n.3607-628C>G
n.4043-628C>G
c.1500G>C (p.Trp500Cys)
c.1518G>C (p.Trp506Cys)
c.1275G>C (p.Trp425Cys)
c.1308G>C (p.Trp436Cys)
c.1326G>C (p.Trp442Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.127428892G=CA1286884704PROCc.1332G= (p.Trp444=)
c.656G=
c.1434G= (p.Trp478=)
c.1515G= (p.Trp505=)
c.1497G= (p.Trp499=)
c.1395G= (p.Trp465=)
n.1332-628C=
c.1575G= (p.Trp525=)
c.1677G= (p.Trp559=)
c.1617G= (p.Trp539=)
n.3607-628C=
n.4043-628C=
c.1500G= (p.Trp500=)
c.1518G= (p.Trp506=)
c.1275G= (p.Trp425=)
c.1308G= (p.Trp436=)
c.1326G= (p.Trp442=)
2g.127428892G>TCA348406687PROCc.1332G>T (p.Trp444Cys)
c.656G>T
c.1434G>T (p.Trp478Cys)
c.1515G>T (p.Trp505Cys)
c.1497G>T (p.Trp499Cys)
c.1395G>T (p.Trp465Cys)
n.1332-628C>A
c.1575G>T (p.Trp525Cys)
c.1677G>T (p.Trp559Cys)
c.1617G>T (p.Trp539Cys)
n.3607-628C>A
n.4043-628C>A
c.1500G>T (p.Trp500Cys)
c.1518G>T (p.Trp506Cys)
c.1275G>T (p.Trp425Cys)
c.1308G>T (p.Trp436Cys)
c.1326G>T (p.Trp442Cys)
2g.127428893A=CA1286884705PROCc.1333A= (p.Ile445=)
c.657A=
c.1435A= (p.Ile479=)
c.1516A= (p.Ile506=)
c.1498A= (p.Ile500=)
c.1396A= (p.Ile466=)
n.1332-629T=
c.1576A= (p.Ile526=)
c.1678A= (p.Ile560=)
c.1618A= (p.Ile540=)
n.3607-629T=
n.4043-629T=
c.1501A= (p.Ile501=)
c.1519A= (p.Ile507=)
c.1276A= (p.Ile426=)
c.1309A= (p.Ile437=)
c.1327A= (p.Ile443=)
2g.127428893A>CCA1859569PROCc.1333A>C (p.Ile445Leu)
c.657A>C
c.1435A>C (p.Ile479Leu)
c.1516A>C (p.Ile506Leu)
c.1498A>C (p.Ile500Leu)
c.1396A>C (p.Ile466Leu)
n.1332-629T>G
c.1576A>C (p.Ile526Leu)
c.1678A>C (p.Ile560Leu)
c.1618A>C (p.Ile540Leu)
n.3607-629T>G
n.4043-629T>G
c.1501A>C (p.Ile501Leu)
c.1519A>C (p.Ile507Leu)
c.1276A>C (p.Ile426Leu)
c.1309A>C (p.Ile437Leu)
c.1327A>C (p.Ile443Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428893A>GCA348406689PROCc.1333A>G (p.Ile445Val)
c.657A>G
c.1435A>G (p.Ile479Val)
c.1516A>G (p.Ile506Val)
c.1498A>G (p.Ile500Val)
c.1396A>G (p.Ile466Val)
n.1332-629T>C
c.1576A>G (p.Ile526Val)
c.1678A>G (p.Ile560Val)
c.1618A>G (p.Ile540Val)
n.3607-629T>C
n.4043-629T>C
c.1501A>G (p.Ile501Val)
c.1519A>G (p.Ile507Val)
c.1276A>G (p.Ile426Val)
c.1309A>G (p.Ile437Val)
c.1327A>G (p.Ile443Val)
2g.127428893A>TCA348406688PROCc.1333A>T (p.Ile445Phe)
c.657A>T
c.1435A>T (p.Ile479Phe)
c.1516A>T (p.Ile506Phe)
c.1498A>T (p.Ile500Phe)
c.1396A>T (p.Ile466Phe)
n.1332-629T>A
c.1576A>T (p.Ile526Phe)
c.1678A>T (p.Ile560Phe)
c.1618A>T (p.Ile540Phe)
n.3607-629T>A
n.4043-629T>A
c.1501A>T (p.Ile501Phe)
c.1519A>T (p.Ile507Phe)
c.1276A>T (p.Ile426Phe)
c.1309A>T (p.Ile437Phe)
c.1327A>T (p.Ile443Phe)
2g.127428894T>ACA348406690PROCc.1334T>A (p.Ile445Asn)
c.658T>A
c.1436T>A (p.Ile479Asn)
c.1517T>A (p.Ile506Asn)
c.1499T>A (p.Ile500Asn)
c.1397T>A (p.Ile466Asn)
n.1332-630A>T
c.1577T>A (p.Ile526Asn)
c.1679T>A (p.Ile560Asn)
c.1619T>A (p.Ile540Asn)
n.3607-630A>T
n.4043-630A>T
c.1502T>A (p.Ile501Asn)
c.1520T>A (p.Ile507Asn)
c.1277T>A (p.Ile426Asn)
c.1310T>A (p.Ile437Asn)
c.1328T>A (p.Ile443Asn)
2g.127428894T>CCA348406691PROCc.1334T>C (p.Ile445Thr)
c.658T>C
c.1436T>C (p.Ile479Thr)
c.1517T>C (p.Ile506Thr)
c.1499T>C (p.Ile500Thr)
c.1397T>C (p.Ile466Thr)
n.1332-630A>G
c.1577T>C (p.Ile526Thr)
c.1679T>C (p.Ile560Thr)
c.1619T>C (p.Ile540Thr)
n.3607-630A>G
n.4043-630A>G
c.1502T>C (p.Ile501Thr)
c.1520T>C (p.Ile507Thr)
c.1277T>C (p.Ile426Thr)
c.1310T>C (p.Ile437Thr)
c.1328T>C (p.Ile443Thr)
2g.127428894T>GCA348406692PROCc.1334T>G (p.Ile445Ser)
c.658T>G
c.1436T>G (p.Ile479Ser)
c.1517T>G (p.Ile506Ser)
c.1499T>G (p.Ile500Ser)
c.1397T>G (p.Ile466Ser)
n.1332-630A>C
c.1577T>G (p.Ile526Ser)
c.1679T>G (p.Ile560Ser)
c.1619T>G (p.Ile540Ser)
n.3607-630A>C
n.4043-630A>C
c.1502T>G (p.Ile501Ser)
c.1520T>G (p.Ile507Ser)
c.1277T>G (p.Ile426Ser)
c.1310T>G (p.Ile437Ser)
c.1328T>G (p.Ile443Ser)
2g.127428895C>ACA428873270PROCc.1335C>A (p.Ile445=)
c.659C>A
c.1437C>A (p.Ile479=)
c.1518C>A (p.Ile506=)
c.1500C>A (p.Ile500=)
c.1398C>A (p.Ile466=)
n.1332-631G>T
c.1578C>A (p.Ile526=)
c.1680C>A (p.Ile560=)
c.1620C>A (p.Ile540=)
n.3607-631G>T
n.4043-631G>T
c.1503C>A (p.Ile501=)
c.1521C>A (p.Ile507=)
c.1278C>A (p.Ile426=)
c.1311C>A (p.Ile437=)
c.1329C>A (p.Ile443=)
2g.127428895C=CA1286884706PROCc.1335C= (p.Ile445=)
c.659C=
c.1437C= (p.Ile479=)
c.1518C= (p.Ile506=)
c.1500C= (p.Ile500=)
c.1398C= (p.Ile466=)
n.1332-631G=
c.1578C= (p.Ile526=)
c.1680C= (p.Ile560=)
c.1620C= (p.Ile540=)
n.3607-631G=
n.4043-631G=
c.1503C= (p.Ile501=)
c.1521C= (p.Ile507=)
c.1278C= (p.Ile426=)
c.1311C= (p.Ile437=)
c.1329C= (p.Ile443=)
2g.127428895C>GCA114422PROCc.1335C>G (p.Ile445Met)
c.659C>G
c.1437C>G (p.Ile479Met)
c.1518C>G (p.Ile506Met)
c.1500C>G (p.Ile500Met)
c.1398C>G (p.Ile466Met)
n.1332-631G>C
c.1578C>G (p.Ile526Met)
c.1680C>G (p.Ile560Met)
c.1620C>G (p.Ile540Met)
n.3607-631G>C
n.4043-631G>C
c.1503C>G (p.Ile501Met)
c.1521C>G (p.Ile507Met)
c.1278C>G (p.Ile426Met)
c.1311C>G (p.Ile437Met)
c.1329C>G (p.Ile443Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.127428895C>TCA428873275PROCc.1335C>T (p.Ile445=)
c.659C>T
c.1437C>T (p.Ile479=)
c.1518C>T (p.Ile506=)
c.1500C>T (p.Ile500=)
c.1398C>T (p.Ile466=)
n.1332-631G>A
c.1578C>T (p.Ile526=)
c.1680C>T (p.Ile560=)
c.1620C>T (p.Ile540=)
n.3607-631G>A
n.4043-631G>A
c.1503C>T (p.Ile501=)
c.1521C>T (p.Ile507=)
c.1278C>T (p.Ile426=)
c.1311C>T (p.Ile437=)
c.1329C>T (p.Ile443=)
 ClinVar
2g.127428896delCA2586969926PROCc.1336del (p.His446MetfsTer?)
c.660del
c.1438del (p.His480MetfsTer?)
c.1519del (p.His507MetfsTer?)
c.1501del (p.His501MetfsTer?)
c.1399del (p.His467MetfsTer?)
n.1332-631del
c.1579del (p.His527MetfsTer?)
c.1681del (p.His561MetfsTer?)
c.1621del (p.His541MetfsTer?)
n.3607-631del
n.4043-631del
c.1504del (p.His502MetfsTer?)
c.1522del (p.His508MetfsTer?)
c.1279del (p.His427MetfsTer?)
c.1312del (p.His438MetfsTer?)
c.1330del (p.His444MetfsTer?)
2g.127428896C>ACA348406693PROCc.1336C>A (p.His446Asn)
c.660C>A
c.1438C>A (p.His480Asn)
c.1519C>A (p.His507Asn)
c.1501C>A (p.His501Asn)
c.1399C>A (p.His467Asn)
n.1332-632G>T
c.1579C>A (p.His527Asn)
c.1681C>A (p.His561Asn)
c.1621C>A (p.His541Asn)
n.3607-632G>T
n.4043-632G>T
c.1504C>A (p.His502Asn)
c.1522C>A (p.His508Asn)
c.1279C>A (p.His427Asn)
c.1312C>A (p.His438Asn)
c.1330C>A (p.His444Asn)
2g.127428896C>GCA348406694PROCc.1336C>G (p.His446Asp)
c.660C>G
c.1438C>G (p.His480Asp)
c.1519C>G (p.His507Asp)
c.1501C>G (p.His501Asp)
c.1399C>G (p.His467Asp)
n.1332-632G>C
c.1579C>G (p.His527Asp)
c.1681C>G (p.His561Asp)
c.1621C>G (p.His541Asp)
n.3607-632G>C
n.4043-632G>C
c.1504C>G (p.His502Asp)
c.1522C>G (p.His508Asp)
c.1279C>G (p.His427Asp)
c.1312C>G (p.His438Asp)
c.1330C>G (p.His444Asp)
2g.127428896C>TCA348406695PROCc.1336C>T (p.His446Tyr)
c.660C>T
c.1438C>T (p.His480Tyr)
c.1519C>T (p.His507Tyr)
c.1501C>T (p.His501Tyr)
c.1399C>T (p.His467Tyr)
n.1332-632G>A
c.1579C>T (p.His527Tyr)
c.1681C>T (p.His561Tyr)
c.1621C>T (p.His541Tyr)
n.3607-632G>A
n.4043-632G>A
c.1504C>T (p.His502Tyr)
c.1522C>T (p.His508Tyr)
c.1279C>T (p.His427Tyr)
c.1312C>T (p.His438Tyr)
c.1330C>T (p.His444Tyr)
2g.127428897A=CA1286884707PROCc.1337A= (p.His446=)
c.661A=
c.1439A= (p.His480=)
c.1520A= (p.His507=)
c.1502A= (p.His501=)
c.1400A= (p.His467=)
n.1332-633T=
c.1580A= (p.His527=)
c.1682A= (p.His561=)
c.1622A= (p.His541=)
n.3607-633T=
n.4043-633T=
c.1505A= (p.His502=)
c.1523A= (p.His508=)
c.1280A= (p.His427=)
c.1313A= (p.His438=)
c.1331A= (p.His444=)
2g.127428897A>CCA348406696PROCc.1337A>C (p.His446Pro)
c.661A>C
c.1439A>C (p.His480Pro)
c.1520A>C (p.His507Pro)
c.1502A>C (p.His501Pro)
c.1400A>C (p.His467Pro)
n.1332-633T>G
c.1580A>C (p.His527Pro)
c.1682A>C (p.His561Pro)
c.1622A>C (p.His541Pro)
n.3607-633T>G
n.4043-633T>G
c.1505A>C (p.His502Pro)
c.1523A>C (p.His508Pro)
c.1280A>C (p.His427Pro)
c.1313A>C (p.His438Pro)
c.1331A>C (p.His444Pro)
2g.127428897A>GCA348406697PROCc.1337A>G (p.His446Arg)
c.661A>G
c.1439A>G (p.His480Arg)
c.1520A>G (p.His507Arg)
c.1502A>G (p.His501Arg)
c.1400A>G (p.His467Arg)
n.1332-633T>C
c.1580A>G (p.His527Arg)
c.1682A>G (p.His561Arg)
c.1622A>G (p.His541Arg)
n.3607-633T>C
n.4043-633T>C
c.1505A>G (p.His502Arg)
c.1523A>G (p.His508Arg)
c.1280A>G (p.His427Arg)
c.1313A>G (p.His438Arg)
c.1331A>G (p.His444Arg)
 dbSNP gnomAD v4
2g.127428897A>TCA348406698PROCc.1337A>T (p.His446Leu)
c.661A>T
c.1439A>T (p.His480Leu)
c.1520A>T (p.His507Leu)
c.1502A>T (p.His501Leu)
c.1400A>T (p.His467Leu)
n.1332-633T>A
c.1580A>T (p.His527Leu)
c.1682A>T (p.His561Leu)
c.1622A>T (p.His541Leu)
n.3607-633T>A
n.4043-633T>A
c.1505A>T (p.His502Leu)
c.1523A>T (p.His508Leu)
c.1280A>T (p.His427Leu)
c.1313A>T (p.His438Leu)
c.1331A>T (p.His444Leu)
2g.127428898T>ACA348406699PROCc.1338T>A (p.His446Gln)
c.662T>A
c.1440T>A (p.His480Gln)
c.1521T>A (p.His507Gln)
c.1503T>A (p.His501Gln)
c.1401T>A (p.His467Gln)
n.1332-634A>T
c.1581T>A (p.His527Gln)
c.1683T>A (p.His561Gln)
c.1623T>A (p.His541Gln)
n.3607-634A>T
n.4043-634A>T
c.1506T>A (p.His502Gln)
c.1524T>A (p.His508Gln)
c.1281T>A (p.His427Gln)
c.1314T>A (p.His438Gln)
c.1332T>A (p.His444Gln)
2g.127428898T>CCA428873296PROCc.1338T>C (p.His446=)
c.662T>C
c.1440T>C (p.His480=)
c.1521T>C (p.His507=)
c.1503T>C (p.His501=)
c.1401T>C (p.His467=)
n.1332-634A>G
c.1581T>C (p.His527=)
c.1683T>C (p.His561=)
c.1623T>C (p.His541=)
n.3607-634A>G
n.4043-634A>G
c.1506T>C (p.His502=)
c.1524T>C (p.His508=)
c.1281T>C (p.His427=)
c.1314T>C (p.His438=)
c.1332T>C (p.His444=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.127428898T>GCA348406700PROCc.1338T>G (p.His446Gln)
c.662T>G
c.1440T>G (p.His480Gln)
c.1521T>G (p.His507Gln)
c.1503T>G (p.His501Gln)
c.1401T>G (p.His467Gln)
n.1332-634A>C
c.1581T>G (p.His527Gln)
c.1683T>G (p.His561Gln)
c.1623T>G (p.His541Gln)
n.3607-634A>C
n.4043-634A>C
c.1506T>G (p.His502Gln)
c.1524T>G (p.His508Gln)
c.1281T>G (p.His427Gln)
c.1314T>G (p.His438Gln)
c.1332T>G (p.His444Gln)
2g.127428898T=CA1286884708PROCc.1338T= (p.His446=)
c.662T=
c.1440T= (p.His480=)
c.1521T= (p.His507=)
c.1503T= (p.His501=)
c.1401T= (p.His467=)
n.1332-634A=
c.1581T= (p.His527=)
c.1683T= (p.His561=)
c.1623T= (p.His541=)
n.3607-634A=
n.4043-634A=
c.1506T= (p.His502=)
c.1524T= (p.His508=)
c.1281T= (p.His427=)
c.1314T= (p.His438=)
c.1332T= (p.His444=)
2g.127428899G>ACA348406703PROCc.1339G>A (p.Gly447Arg)
c.663G>A
c.1441G>A (p.Gly481Arg)
c.1522G>A (p.Gly508Arg)
c.1504G>A (p.Gly502Arg)
c.1402G>A (p.Gly468Arg)
n.1332-635C>T
c.1582G>A (p.Gly528Arg)
c.1684G>A (p.Gly562Arg)
c.1624G>A (p.Gly542Arg)
n.3607-635C>T
n.4043-635C>T
c.1507G>A (p.Gly503Arg)
c.1525G>A (p.Gly509Arg)
c.1282G>A (p.Gly428Arg)
c.1315G>A (p.Gly439Arg)
c.1333G>A (p.Gly445Arg)
 COSMIC COSMIC
2g.127428899G>CCA348406701PROCc.1339G>C (p.Gly447Arg)
c.663G>C
c.1441G>C (p.Gly481Arg)
c.1522G>C (p.Gly508Arg)
c.1504G>C (p.Gly502Arg)
c.1402G>C (p.Gly468Arg)
n.1332-635C>G
c.1582G>C (p.Gly528Arg)
c.1684G>C (p.Gly562Arg)
c.1624G>C (p.Gly542Arg)
n.3607-635C>G
n.4043-635C>G
c.1507G>C (p.Gly503Arg)
c.1525G>C (p.Gly509Arg)
c.1282G>C (p.Gly428Arg)
c.1315G>C (p.Gly439Arg)
c.1333G>C (p.Gly445Arg)
2g.127428899G=CA1286884709PROCc.1339G= (p.Gly447=)
c.663G=
c.1441G= (p.Gly481=)
c.1522G= (p.Gly508=)
c.1504G= (p.Gly502=)
c.1402G= (p.Gly468=)
n.1332-635C=
c.1582G= (p.Gly528=)
c.1684G= (p.Gly562=)
c.1624G= (p.Gly542=)
n.3607-635C=
n.4043-635C=
c.1507G= (p.Gly503=)
c.1525G= (p.Gly509=)
c.1282G= (p.Gly428=)
c.1315G= (p.Gly439=)
c.1333G= (p.Gly445=)
2g.127428899G>TCA348406702PROCc.1339G>T (p.Gly447Trp)
c.663G>T
c.1441G>T (p.Gly481Trp)
c.1522G>T (p.Gly508Trp)
c.1504G>T (p.Gly502Trp)
c.1402G>T (p.Gly468Trp)
n.1332-635C>A
c.1582G>T (p.Gly528Trp)
c.1684G>T (p.Gly562Trp)
c.1624G>T (p.Gly542Trp)
n.3607-635C>A
n.4043-635C>A
c.1507G>T (p.Gly503Trp)
c.1525G>T (p.Gly509Trp)
c.1282G>T (p.Gly428Trp)
c.1315G>T (p.Gly439Trp)
c.1333G>T (p.Gly445Trp)
 dbSNP gnomAD v3 gnomAD v4
2g.127428900G>ACA348406704PROCc.1340G>A (p.Gly447Glu)
c.664G>A
c.1442G>A (p.Gly481Glu)
c.1523G>A (p.Gly508Glu)
c.1505G>A (p.Gly502Glu)
c.1403G>A (p.Gly468Glu)
n.1332-636C>T
c.1583G>A (p.Gly528Glu)
c.1685G>A (p.Gly562Glu)
c.1625G>A (p.Gly542Glu)
n.3607-636C>T
n.4043-636C>T
c.1508G>A (p.Gly503Glu)
c.1526G>A (p.Gly509Glu)
c.1283G>A (p.Gly428Glu)
c.1316G>A (p.Gly439Glu)
c.1334G>A (p.Gly445Glu)
 gnomAD v4
2g.127428900G>CCA348406705PROCc.1340G>C (p.Gly447Ala)
c.664G>C
c.1442G>C (p.Gly481Ala)
c.1523G>C (p.Gly508Ala)
c.1505G>C (p.Gly502Ala)
c.1403G>C (p.Gly468Ala)
n.1332-636C>G
c.1583G>C (p.Gly528Ala)
c.1685G>C (p.Gly562Ala)
c.1625G>C (p.Gly542Ala)
n.3607-636C>G
n.4043-636C>G
c.1508G>C (p.Gly503Ala)
c.1526G>C (p.Gly509Ala)
c.1283G>C (p.Gly428Ala)
c.1316G>C (p.Gly439Ala)
c.1334G>C (p.Gly445Ala)
 gnomAD v4
2g.127428900G>TCA348406706PROCc.1340G>T (p.Gly447Val)
c.664G>T
c.1442G>T (p.Gly481Val)
c.1523G>T (p.Gly508Val)
c.1505G>T (p.Gly502Val)
c.1403G>T (p.Gly468Val)
n.1332-636C>A
c.1583G>T (p.Gly528Val)
c.1685G>T (p.Gly562Val)
c.1625G>T (p.Gly542Val)
n.3607-636C>A
n.4043-636C>A
c.1508G>T (p.Gly503Val)
c.1526G>T (p.Gly509Val)
c.1283G>T (p.Gly428Val)
c.1316G>T (p.Gly439Val)
c.1334G>T (p.Gly445Val)
2g.127428901G>ACA428873310PROCc.1341G>A (p.Gly447=)
c.665G>A
c.1443G>A (p.Gly481=)
c.1524G>A (p.Gly508=)
c.1506G>A (p.Gly502=)
c.1404G>A (p.Gly468=)
n.1332-637C>T
c.1584G>A (p.Gly528=)
c.1686G>A (p.Gly562=)
c.1626G>A (p.Gly542=)
n.3607-637C>T
n.4043-637C>T
c.1509G>A (p.Gly503=)
c.1527G>A (p.Gly509=)
c.1284G>A (p.Gly428=)
c.1317G>A (p.Gly439=)
c.1335G>A (p.Gly445=)
 dbSNP gnomAD v2
2g.127428901G>CCA428873313PROCc.1341G>C (p.Gly447=)
c.665G>C
c.1443G>C (p.Gly481=)
c.1524G>C (p.Gly508=)
c.1506G>C (p.Gly502=)
c.1404G>C (p.Gly468=)
n.1332-637C>G
c.1584G>C (p.Gly528=)
c.1686G>C (p.Gly562=)
c.1626G>C (p.Gly542=)
n.3607-637C>G
n.4043-637C>G
c.1509G>C (p.Gly503=)
c.1527G>C (p.Gly509=)
c.1284G>C (p.Gly428=)
c.1317G>C (p.Gly439=)
c.1335G>C (p.Gly445=)
2g.127428901G=CA1286884710PROCc.1341G= (p.Gly447=)
c.665G=
c.1443G= (p.Gly481=)
c.1524G= (p.Gly508=)
c.1506G= (p.Gly502=)
c.1404G= (p.Gly468=)
n.1332-637C=
c.1584G= (p.Gly528=)
c.1686G= (p.Gly562=)
c.1626G= (p.Gly542=)
n.3607-637C=
n.4043-637C=
c.1509G= (p.Gly503=)
c.1527G= (p.Gly509=)
c.1284G= (p.Gly428=)
c.1317G= (p.Gly439=)
c.1335G= (p.Gly445=)
2g.127428901G>TCA428873314PROCc.1341G>T (p.Gly447=)
c.665G>T
c.1443G>T (p.Gly481=)
c.1524G>T (p.Gly508=)
c.1506G>T (p.Gly502=)
c.1404G>T (p.Gly468=)
n.1332-637C>A
c.1584G>T (p.Gly528=)
c.1686G>T (p.Gly562=)
c.1626G>T (p.Gly542=)
n.3607-637C>A
n.4043-637C>A
c.1509G>T (p.Gly503=)
c.1527G>T (p.Gly509=)
c.1284G>T (p.Gly428=)
c.1317G>T (p.Gly439=)
c.1335G>T (p.Gly445=)
2g.127428902C>ACA348406707PROCc.1342C>A (p.His448Asn)
c.666C>A
c.1444C>A (p.His482Asn)
c.1525C>A (p.His509Asn)
c.1507C>A (p.His503Asn)
c.1405C>A (p.His469Asn)
n.1332-638G>T
c.1585C>A (p.His529Asn)
c.1687C>A (p.His563Asn)
c.1627C>A (p.His543Asn)
n.3607-638G>T
n.4043-638G>T
c.1510C>A (p.His504Asn)
c.1528C>A (p.His510Asn)
c.1285C>A (p.His429Asn)
c.1318C>A (p.His440Asn)
c.1336C>A (p.His446Asn)
2g.127428902C=CA1286884711PROCc.1342C= (p.His448=)
c.666C=
c.1444C= (p.His482=)
c.1525C= (p.His509=)
c.1507C= (p.His503=)
c.1405C= (p.His469=)
n.1332-638G=
c.1585C= (p.His529=)
c.1687C= (p.His563=)
c.1627C= (p.His543=)
n.3607-638G=
n.4043-638G=
c.1510C= (p.His504=)
c.1528C= (p.His510=)
c.1285C= (p.His429=)
c.1318C= (p.His440=)
c.1336C= (p.His446=)
2g.127428902C>GCA348406708PROCc.1342C>G (p.His448Asp)
c.666C>G
c.1444C>G (p.His482Asp)
c.1525C>G (p.His509Asp)
c.1507C>G (p.His503Asp)
c.1405C>G (p.His469Asp)
n.1332-638G>C
c.1585C>G (p.His529Asp)
c.1687C>G (p.His563Asp)
c.1627C>G (p.His543Asp)
n.3607-638G>C
n.4043-638G>C
c.1510C>G (p.His504Asp)
c.1528C>G (p.His510Asp)
c.1285C>G (p.His429Asp)
c.1318C>G (p.His440Asp)
c.1336C>G (p.His446Asp)
2g.127428902C>TCA1859570PROCc.1342C>T (p.His448Tyr)
c.666C>T
c.1444C>T (p.His482Tyr)
c.1525C>T (p.His509Tyr)
c.1507C>T (p.His503Tyr)
c.1405C>T (p.His469Tyr)
n.1332-638G>A
c.1585C>T (p.His529Tyr)
c.1687C>T (p.His563Tyr)
c.1627C>T (p.His543Tyr)
n.3607-638G>A
n.4043-638G>A
c.1510C>T (p.His504Tyr)
c.1528C>T (p.His510Tyr)
c.1285C>T (p.His429Tyr)
c.1318C>T (p.His440Tyr)
c.1336C>T (p.His446Tyr)
 dbSNP ExAC gnomAD v2
2g.127428903A>CCA348406709PROCc.1343A>C (p.His448Pro)
c.667A>C
c.1445A>C (p.His482Pro)
c.1526A>C (p.His509Pro)
c.1508A>C (p.His503Pro)
c.1406A>C (p.His469Pro)
n.1332-639T>G
c.1586A>C (p.His529Pro)
c.1688A>C (p.His563Pro)
c.1628A>C (p.His543Pro)
n.3607-639T>G
n.4043-639T>G
c.1511A>C (p.His504Pro)
c.1529A>C (p.His510Pro)
c.1286A>C (p.His429Pro)
c.1319A>C (p.His440Pro)
c.1337A>C (p.His446Pro)
2g.127428903A>GCA348406710PROCc.1343A>G (p.His448Arg)
c.667A>G
c.1445A>G (p.His482Arg)
c.1526A>G (p.His509Arg)
c.1508A>G (p.His503Arg)
c.1406A>G (p.His469Arg)
n.1332-639T>C
c.1586A>G (p.His529Arg)
c.1688A>G (p.His563Arg)
c.1628A>G (p.His543Arg)
n.3607-639T>C
n.4043-639T>C
c.1511A>G (p.His504Arg)
c.1529A>G (p.His510Arg)
c.1286A>G (p.His429Arg)
c.1319A>G (p.His440Arg)
c.1337A>G (p.His446Arg)
2g.127428903A>TCA348406711PROCc.1343A>T (p.His448Leu)
c.667A>T
c.1445A>T (p.His482Leu)
c.1526A>T (p.His509Leu)
c.1508A>T (p.His503Leu)
c.1406A>T (p.His469Leu)
n.1332-639T>A
c.1586A>T (p.His529Leu)
c.1688A>T (p.His563Leu)
c.1628A>T (p.His543Leu)
n.3607-639T>A
n.4043-639T>A
c.1511A>T (p.His504Leu)
c.1529A>T (p.His510Leu)
c.1286A>T (p.His429Leu)
c.1319A>T (p.His440Leu)
c.1337A>T (p.His446Leu)
2g.127428904C>ACA348406712PROCc.1344C>A (p.His448Gln)
c.668C>A
c.1446C>A (p.His482Gln)
c.1527C>A (p.His509Gln)
c.1509C>A (p.His503Gln)
c.1407C>A (p.His469Gln)
n.1332-640G>T
c.1587C>A (p.His529Gln)
c.1689C>A (p.His563Gln)
c.1629C>A (p.His543Gln)
n.3607-640G>T
n.4043-640G>T
c.1512C>A (p.His504Gln)
c.1530C>A (p.His510Gln)
c.1287C>A (p.His429Gln)
c.1320C>A (p.His440Gln)
c.1338C>A (p.His446Gln)
 gnomAD v4
2g.127428904C=CA1286884712PROCc.1344C= (p.His448=)
c.668C=
c.1446C= (p.His482=)
c.1527C= (p.His509=)
c.1509C= (p.His503=)
c.1407C= (p.His469=)
n.1332-640G=
c.1587C= (p.His529=)
c.1689C= (p.His563=)
c.1629C= (p.His543=)
n.3607-640G=
n.4043-640G=
c.1512C= (p.His504=)
c.1530C= (p.His510=)
c.1287C= (p.His429=)
c.1320C= (p.His440=)
c.1338C= (p.His446=)
2g.127428904C>GCA348406713PROCc.1344C>G (p.His448Gln)
c.668C>G
c.1446C>G (p.His482Gln)
c.1527C>G (p.His509Gln)
c.1509C>G (p.His503Gln)
c.1407C>G (p.His469Gln)
n.1332-640G>C
c.1587C>G (p.His529Gln)
c.1689C>G (p.His563Gln)
c.1629C>G (p.His543Gln)
n.3607-640G>C
n.4043-640G>C
c.1512C>G (p.His504Gln)
c.1530C>G (p.His510Gln)
c.1287C>G (p.His429Gln)
c.1320C>G (p.His440Gln)
c.1338C>G (p.His446Gln)
2g.127428904C>TCA55351534PROCc.1344C>T (p.His448=)
c.668C>T
c.1446C>T (p.His482=)
c.1527C>T (p.His509=)
c.1509C>T (p.His503=)
c.1407C>T (p.His469=)
n.1332-640G>A
c.1587C>T (p.His529=)
c.1689C>T (p.His563=)
c.1629C>T (p.His543=)
n.3607-640G>A
n.4043-640G>A
c.1512C>T (p.His504=)
c.1530C>T (p.His510=)
c.1287C>T (p.His429=)
c.1320C>T (p.His440=)
c.1338C>T (p.His446=)
 dbSNP gnomAD v4
2g.127428905A=CA1286884713PROCc.1345A= (p.Ile449=)
c.669A=
c.1447A= (p.Ile483=)
c.1528A= (p.Ile510=)
c.1510A= (p.Ile504=)
c.1408A= (p.Ile470=)
n.1332-641T=
c.1588A= (p.Ile530=)
c.1690A= (p.Ile564=)
c.1630A= (p.Ile544=)
n.3607-641T=
n.4043-641T=
c.1513A= (p.Ile505=)
c.1531A= (p.Ile511=)
c.1288A= (p.Ile430=)
c.1321A= (p.Ile441=)
c.1339A= (p.Ile447=)
2g.127428905A>CCA348406715PROCc.1345A>C (p.Ile449Leu)
c.669A>C
c.1447A>C (p.Ile483Leu)
c.1528A>C (p.Ile510Leu)
c.1510A>C (p.Ile504Leu)
c.1408A>C (p.Ile470Leu)
n.1332-641T>G
c.1588A>C (p.Ile530Leu)
c.1690A>C (p.Ile564Leu)
c.1630A>C (p.Ile544Leu)
n.3607-641T>G
n.4043-641T>G
c.1513A>C (p.Ile505Leu)
c.1531A>C (p.Ile511Leu)
c.1288A>C (p.Ile430Leu)
c.1321A>C (p.Ile441Leu)
c.1339A>C (p.Ile447Leu)
2g.127428905A>GCA1859571PROCc.1345A>G (p.Ile449Val)
c.669A>G
c.1447A>G (p.Ile483Val)
c.1528A>G (p.Ile510Val)
c.1510A>G (p.Ile504Val)
c.1408A>G (p.Ile470Val)
n.1332-641T>C
c.1588A>G (p.Ile530Val)
c.1690A>G (p.Ile564Val)
c.1630A>G (p.Ile544Val)
n.3607-641T>C
n.4043-641T>C
c.1513A>G (p.Ile505Val)
c.1531A>G (p.Ile511Val)
c.1288A>G (p.Ile430Val)
c.1321A>G (p.Ile441Val)
c.1339A>G (p.Ile447Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428905A>TCA348406714PROCc.1345A>T (p.Ile449Phe)
c.669A>T
c.1447A>T (p.Ile483Phe)
c.1528A>T (p.Ile510Phe)
c.1510A>T (p.Ile504Phe)
c.1408A>T (p.Ile470Phe)
n.1332-641T>A
c.1588A>T (p.Ile530Phe)
c.1690A>T (p.Ile564Phe)
c.1630A>T (p.Ile544Phe)
n.3607-641T>A
n.4043-641T>A
c.1513A>T (p.Ile505Phe)
c.1531A>T (p.Ile511Phe)
c.1288A>T (p.Ile430Phe)
c.1321A>T (p.Ile441Phe)
c.1339A>T (p.Ile447Phe)
2g.127428906T>ACA348406718PROCc.1346T>A (p.Ile449Asn)
c.670T>A
c.1448T>A (p.Ile483Asn)
c.1529T>A (p.Ile510Asn)
c.1511T>A (p.Ile504Asn)
c.1409T>A (p.Ile470Asn)
n.1332-642A>T
c.1589T>A (p.Ile530Asn)
c.1691T>A (p.Ile564Asn)
c.1631T>A (p.Ile544Asn)
n.3607-642A>T
n.4043-642A>T
c.1514T>A (p.Ile505Asn)
c.1532T>A (p.Ile511Asn)
c.1289T>A (p.Ile430Asn)
c.1322T>A (p.Ile441Asn)
c.1340T>A (p.Ile447Asn)
2g.127428906T>CCA348406716PROCc.1346T>C (p.Ile449Thr)
c.670T>C
c.1448T>C (p.Ile483Thr)
c.1529T>C (p.Ile510Thr)
c.1511T>C (p.Ile504Thr)
c.1409T>C (p.Ile470Thr)
n.1332-642A>G
c.1589T>C (p.Ile530Thr)
c.1691T>C (p.Ile564Thr)
c.1631T>C (p.Ile544Thr)
n.3607-642A>G
n.4043-642A>G
c.1514T>C (p.Ile505Thr)
c.1532T>C (p.Ile511Thr)
c.1289T>C (p.Ile430Thr)
c.1322T>C (p.Ile441Thr)
c.1340T>C (p.Ile447Thr)
2g.127428906T>GCA348406717PROCc.1346T>G (p.Ile449Ser)
c.670T>G
c.1448T>G (p.Ile483Ser)
c.1529T>G (p.Ile510Ser)
c.1511T>G (p.Ile504Ser)
c.1409T>G (p.Ile470Ser)
n.1332-642A>C
c.1589T>G (p.Ile530Ser)
c.1691T>G (p.Ile564Ser)
c.1631T>G (p.Ile544Ser)
n.3607-642A>C
n.4043-642A>C
c.1514T>G (p.Ile505Ser)
c.1532T>G (p.Ile511Ser)
c.1289T>G (p.Ile430Ser)
c.1322T>G (p.Ile441Ser)
c.1340T>G (p.Ile447Ser)
2g.127428907C>ACA428873364PROCc.1347C>A (p.Ile449=)
c.671C>A
c.1449C>A (p.Ile483=)
c.1530C>A (p.Ile510=)
c.1512C>A (p.Ile504=)
c.1410C>A (p.Ile470=)
n.1332-643G>T
c.1590C>A (p.Ile530=)
c.1692C>A (p.Ile564=)
c.1632C>A (p.Ile544=)
n.3607-643G>T
n.4043-643G>T
c.1515C>A (p.Ile505=)
c.1533C>A (p.Ile511=)
c.1290C>A (p.Ile430=)
c.1323C>A (p.Ile441=)
c.1341C>A (p.Ile447=)
2g.127428907C>GCA348406719PROCc.1347C>G (p.Ile449Met)
c.671C>G
c.1449C>G (p.Ile483Met)
c.1530C>G (p.Ile510Met)
c.1512C>G (p.Ile504Met)
c.1410C>G (p.Ile470Met)
n.1332-643G>C
c.1590C>G (p.Ile530Met)
c.1692C>G (p.Ile564Met)
c.1632C>G (p.Ile544Met)
n.3607-643G>C
n.4043-643G>C
c.1515C>G (p.Ile505Met)
c.1533C>G (p.Ile511Met)
c.1290C>G (p.Ile430Met)
c.1323C>G (p.Ile441Met)
c.1341C>G (p.Ile447Met)
2g.127428907C>TCA428873370PROCc.1347C>T (p.Ile449=)
c.671C>T
c.1449C>T (p.Ile483=)
c.1530C>T (p.Ile510=)
c.1512C>T (p.Ile504=)
c.1410C>T (p.Ile470=)
n.1332-643G>A
c.1590C>T (p.Ile530=)
c.1692C>T (p.Ile564=)
c.1632C>T (p.Ile544=)
n.3607-643G>A
n.4043-643G>A
c.1515C>T (p.Ile505=)
c.1533C>T (p.Ile511=)
c.1290C>T (p.Ile430=)
c.1323C>T (p.Ile441=)
c.1341C>T (p.Ile447=)
 gnomAD v4
2g.127428908A>CCA428873378PROCc.1348A>C (p.Arg450=)
c.672A>C
c.1450A>C (p.Arg484=)
c.1531A>C (p.Arg511=)
c.1513A>C (p.Arg505=)
c.1411A>C (p.Arg471=)
n.1332-644T>G
c.1591A>C (p.Arg531=)
c.1693A>C (p.Arg565=)
c.1633A>C (p.Arg545=)
n.3607-644T>G
n.4043-644T>G
c.1516A>C (p.Arg506=)
c.1534A>C (p.Arg512=)
c.1291A>C (p.Arg431=)
c.1324A>C (p.Arg442=)
c.1342A>C (p.Arg448=)
2g.127428908A>GCA348406720PROCc.1348A>G (p.Arg450Gly)
c.672A>G
c.1450A>G (p.Arg484Gly)
c.1531A>G (p.Arg511Gly)
c.1513A>G (p.Arg505Gly)
c.1411A>G (p.Arg471Gly)
n.1332-644T>C
c.1591A>G (p.Arg531Gly)
c.1693A>G (p.Arg565Gly)
c.1633A>G (p.Arg545Gly)
n.3607-644T>C
n.4043-644T>C
c.1516A>G (p.Arg506Gly)
c.1534A>G (p.Arg512Gly)
c.1291A>G (p.Arg431Gly)
c.1324A>G (p.Arg442Gly)
c.1342A>G (p.Arg448Gly)
2g.127428908A>TCA348406721PROCc.1348A>T (p.Arg450Ter)
c.672A>T
c.1450A>T (p.Arg484Ter)
c.1531A>T (p.Arg511Ter)
c.1513A>T (p.Arg505Ter)
c.1411A>T (p.Arg471Ter)
n.1332-644T>A
c.1591A>T (p.Arg531Ter)
c.1693A>T (p.Arg565Ter)
c.1633A>T (p.Arg545Ter)
n.3607-644T>A
n.4043-644T>A
c.1516A>T (p.Arg506Ter)
c.1534A>T (p.Arg512Ter)
c.1291A>T (p.Arg431Ter)
c.1324A>T (p.Arg442Ter)
c.1342A>T (p.Arg448Ter)
2g.127428909G>ACA348406722PROCc.1349G>A (p.Arg450Lys)
c.673G>A
c.1451G>A (p.Arg484Lys)
c.1532G>A (p.Arg511Lys)
c.1514G>A (p.Arg505Lys)
c.1412G>A (p.Arg471Lys)
n.1332-645C>T
c.1592G>A (p.Arg531Lys)
c.1694G>A (p.Arg565Lys)
c.1634G>A (p.Arg545Lys)
n.3607-645C>T
n.4043-645C>T
c.1517G>A (p.Arg506Lys)
c.1535G>A (p.Arg512Lys)
c.1292G>A (p.Arg431Lys)
c.1325G>A (p.Arg442Lys)
c.1343G>A (p.Arg448Lys)
2g.127428909G>CCA348406723PROCc.1349G>C (p.Arg450Thr)
c.673G>C
c.1451G>C (p.Arg484Thr)
c.1532G>C (p.Arg511Thr)
c.1514G>C (p.Arg505Thr)
c.1412G>C (p.Arg471Thr)
n.1332-645C>G
c.1592G>C (p.Arg531Thr)
c.1694G>C (p.Arg565Thr)
c.1634G>C (p.Arg545Thr)
n.3607-645C>G
n.4043-645C>G
c.1517G>C (p.Arg506Thr)
c.1535G>C (p.Arg512Thr)
c.1292G>C (p.Arg431Thr)
c.1325G>C (p.Arg442Thr)
c.1343G>C (p.Arg448Thr)
2g.127428909G>TCA348406724PROCc.1349G>T (p.Arg450Ile)
c.673G>T
c.1451G>T (p.Arg484Ile)
c.1532G>T (p.Arg511Ile)
c.1514G>T (p.Arg505Ile)
c.1412G>T (p.Arg471Ile)
n.1332-645C>A
c.1592G>T (p.Arg531Ile)
c.1694G>T (p.Arg565Ile)
c.1634G>T (p.Arg545Ile)
n.3607-645C>A
n.4043-645C>A
c.1517G>T (p.Arg506Ile)
c.1535G>T (p.Arg512Ile)
c.1292G>T (p.Arg431Ile)
c.1325G>T (p.Arg442Ile)
c.1343G>T (p.Arg448Ile)
2g.127428910A>CCA348406725PROCc.1350A>C (p.Arg450Ser)
c.674A>C
c.1452A>C (p.Arg484Ser)
c.1533A>C (p.Arg511Ser)
c.1515A>C (p.Arg505Ser)
c.1413A>C (p.Arg471Ser)
n.1332-646T>G
c.1593A>C (p.Arg531Ser)
c.1695A>C (p.Arg565Ser)
c.1635A>C (p.Arg545Ser)
n.3607-646T>G
n.4043-646T>G
c.1518A>C (p.Arg506Ser)
c.1536A>C (p.Arg512Ser)
c.1293A>C (p.Arg431Ser)
c.1326A>C (p.Arg442Ser)
c.1344A>C (p.Arg448Ser)
2g.127428910A>GCA428873403PROCc.1350A>G (p.Arg450=)
c.674A>G
c.1452A>G (p.Arg484=)
c.1533A>G (p.Arg511=)
c.1515A>G (p.Arg505=)
c.1413A>G (p.Arg471=)
n.1332-646T>C
c.1593A>G (p.Arg531=)
c.1695A>G (p.Arg565=)
c.1635A>G (p.Arg545=)
n.3607-646T>C
n.4043-646T>C
c.1518A>G (p.Arg506=)
c.1536A>G (p.Arg512=)
c.1293A>G (p.Arg431=)
c.1326A>G (p.Arg442=)
c.1344A>G (p.Arg448=)
2g.127428910A>TCA348406726PROCc.1350A>T (p.Arg450Ser)
c.674A>T
c.1452A>T (p.Arg484Ser)
c.1533A>T (p.Arg511Ser)
c.1515A>T (p.Arg505Ser)
c.1413A>T (p.Arg471Ser)
n.1332-646T>A
c.1593A>T (p.Arg531Ser)
c.1695A>T (p.Arg565Ser)
c.1635A>T (p.Arg545Ser)
n.3607-646T>A
n.4043-646T>A
c.1518A>T (p.Arg506Ser)
c.1536A>T (p.Arg512Ser)
c.1293A>T (p.Arg431Ser)
c.1326A>T (p.Arg442Ser)
c.1344A>T (p.Arg448Ser)
2g.127428911G>ACA348406727PROCc.1351G>A (p.Asp451Asn)
c.675G>A
c.1453G>A (p.Asp485Asn)
c.1534G>A (p.Asp512Asn)
c.1516G>A (p.Asp506Asn)
c.1414G>A (p.Asp472Asn)
n.1332-647C>T
c.1594G>A (p.Asp532Asn)
c.1696G>A (p.Asp566Asn)
c.1636G>A (p.Asp546Asn)
n.3607-647C>T
n.4043-647C>T
c.1519G>A (p.Asp507Asn)
c.1537G>A (p.Asp513Asn)
c.1294G>A (p.Asp432Asn)
c.1327G>A (p.Asp443Asn)
c.1345G>A (p.Asp449Asn)
2g.127428911G>CCA348406728PROCc.1351G>C (p.Asp451His)
c.675G>C
c.1453G>C (p.Asp485His)
c.1534G>C (p.Asp512His)
c.1516G>C (p.Asp506His)
c.1414G>C (p.Asp472His)
n.1332-647C>G
c.1594G>C (p.Asp532His)
c.1696G>C (p.Asp566His)
c.1636G>C (p.Asp546His)
n.3607-647C>G
n.4043-647C>G
c.1519G>C (p.Asp507His)
c.1537G>C (p.Asp513His)
c.1294G>C (p.Asp432His)
c.1327G>C (p.Asp443His)
c.1345G>C (p.Asp449His)
2g.127428911G>TCA348406729PROCc.1351G>T (p.Asp451Tyr)
c.675G>T
c.1453G>T (p.Asp485Tyr)
c.1534G>T (p.Asp512Tyr)
c.1516G>T (p.Asp506Tyr)
c.1414G>T (p.Asp472Tyr)
n.1332-647C>A
c.1594G>T (p.Asp532Tyr)
c.1696G>T (p.Asp566Tyr)
c.1636G>T (p.Asp546Tyr)
n.3607-647C>A
n.4043-647C>A
c.1519G>T (p.Asp507Tyr)
c.1537G>T (p.Asp513Tyr)
c.1294G>T (p.Asp432Tyr)
c.1327G>T (p.Asp443Tyr)
c.1345G>T (p.Asp449Tyr)
2g.127428912A>CCA348406732PROCc.1352A>C (p.Asp451Ala)
c.676A>C
c.1454A>C (p.Asp485Ala)
c.1535A>C (p.Asp512Ala)
c.1517A>C (p.Asp506Ala)
c.1415A>C (p.Asp472Ala)
n.1332-648T>G
c.1595A>C (p.Asp532Ala)
c.1697A>C (p.Asp566Ala)
c.1637A>C (p.Asp546Ala)
n.3607-648T>G
n.4043-648T>G
c.1520A>C (p.Asp507Ala)
c.1538A>C (p.Asp513Ala)
c.1295A>C (p.Asp432Ala)
c.1328A>C (p.Asp443Ala)
c.1346A>C (p.Asp449Ala)
2g.127428912A>GCA348406731PROCc.1352A>G (p.Asp451Gly)
c.676A>G
c.1454A>G (p.Asp485Gly)
c.1535A>G (p.Asp512Gly)
c.1517A>G (p.Asp506Gly)
c.1415A>G (p.Asp472Gly)
n.1332-648T>C
c.1595A>G (p.Asp532Gly)
c.1697A>G (p.Asp566Gly)
c.1637A>G (p.Asp546Gly)
n.3607-648T>C
n.4043-648T>C
c.1520A>G (p.Asp507Gly)
c.1538A>G (p.Asp513Gly)
c.1295A>G (p.Asp432Gly)
c.1328A>G (p.Asp443Gly)
c.1346A>G (p.Asp449Gly)
2g.127428912A>TCA348406730PROCc.1352A>T (p.Asp451Val)
c.676A>T
c.1454A>T (p.Asp485Val)
c.1535A>T (p.Asp512Val)
c.1517A>T (p.Asp506Val)
c.1415A>T (p.Asp472Val)
n.1332-648T>A
c.1595A>T (p.Asp532Val)
c.1697A>T (p.Asp566Val)
c.1637A>T (p.Asp546Val)
n.3607-648T>A
n.4043-648T>A
c.1520A>T (p.Asp507Val)
c.1538A>T (p.Asp513Val)
c.1295A>T (p.Asp432Val)
c.1328A>T (p.Asp443Val)
c.1346A>T (p.Asp449Val)
2g.127428913C>ACA348406733PROCc.1353C>A (p.Asp451Glu)
c.677C>A
c.1455C>A (p.Asp485Glu)
c.1536C>A (p.Asp512Glu)
c.1518C>A (p.Asp506Glu)
c.1416C>A (p.Asp472Glu)
n.1332-649G>T
c.1596C>A (p.Asp532Glu)
c.1698C>A (p.Asp566Glu)
c.1638C>A (p.Asp546Glu)
n.3607-649G>T
n.4043-649G>T
c.1521C>A (p.Asp507Glu)
c.1539C>A (p.Asp513Glu)
c.1296C>A (p.Asp432Glu)
c.1329C>A (p.Asp443Glu)
c.1347C>A (p.Asp449Glu)
 gnomAD v4
2g.127428913C>GCA348406734PROCc.1353C>G (p.Asp451Glu)
c.677C>G
c.1455C>G (p.Asp485Glu)
c.1536C>G (p.Asp512Glu)
c.1518C>G (p.Asp506Glu)
c.1416C>G (p.Asp472Glu)
n.1332-649G>C
c.1596C>G (p.Asp532Glu)
c.1698C>G (p.Asp566Glu)
c.1638C>G (p.Asp546Glu)
n.3607-649G>C
n.4043-649G>C
c.1521C>G (p.Asp507Glu)
c.1539C>G (p.Asp513Glu)
c.1296C>G (p.Asp432Glu)
c.1329C>G (p.Asp443Glu)
c.1347C>G (p.Asp449Glu)
2g.127428913C>TCA428873438PROCc.1353C>T (p.Asp451=)
c.677C>T
c.1455C>T (p.Asp485=)
c.1536C>T (p.Asp512=)
c.1518C>T (p.Asp506=)
c.1416C>T (p.Asp472=)
n.1332-649G>A
c.1596C>T (p.Asp532=)
c.1698C>T (p.Asp566=)
c.1638C>T (p.Asp546=)
n.3607-649G>A
n.4043-649G>A
c.1521C>T (p.Asp507=)
c.1539C>T (p.Asp513=)
c.1296C>T (p.Asp432=)
c.1329C>T (p.Asp443=)
c.1347C>T (p.Asp449=)
2g.127428914A=CA1286884714PROCc.1354A= (p.Lys452=)
c.678A=
c.1456A= (p.Lys486=)
c.1537A= (p.Lys513=)
c.1519A= (p.Lys507=)
c.1417A= (p.Lys473=)
n.1332-650T=
c.1597A= (p.Lys533=)
c.1699A= (p.Lys567=)
c.1639A= (p.Lys547=)
n.3607-650T=
n.4043-650T=
c.1522A= (p.Lys508=)
c.1540A= (p.Lys514=)
c.1297A= (p.Lys433=)
c.1330A= (p.Lys444=)
c.1348A= (p.Lys450=)
2g.127428914A>CCA348406735PROCc.1354A>C (p.Lys452Gln)
c.678A>C
c.1456A>C (p.Lys486Gln)
c.1537A>C (p.Lys513Gln)
c.1519A>C (p.Lys507Gln)
c.1417A>C (p.Lys473Gln)
n.1332-650T>G
c.1597A>C (p.Lys533Gln)
c.1699A>C (p.Lys567Gln)
c.1639A>C (p.Lys547Gln)
n.3607-650T>G
n.4043-650T>G
c.1522A>C (p.Lys508Gln)
c.1540A>C (p.Lys514Gln)
c.1297A>C (p.Lys433Gln)
c.1330A>C (p.Lys444Gln)
c.1348A>C (p.Lys450Gln)
 gnomAD v4
2g.127428914A>GCA1859572PROCc.1354A>G (p.Lys452Glu)
c.678A>G
c.1456A>G (p.Lys486Glu)
c.1537A>G (p.Lys513Glu)
c.1519A>G (p.Lys507Glu)
c.1417A>G (p.Lys473Glu)
n.1332-650T>C
c.1597A>G (p.Lys533Glu)
c.1699A>G (p.Lys567Glu)
c.1639A>G (p.Lys547Glu)
n.3607-650T>C
n.4043-650T>C
c.1522A>G (p.Lys508Glu)
c.1540A>G (p.Lys514Glu)
c.1297A>G (p.Lys433Glu)
c.1330A>G (p.Lys444Glu)
c.1348A>G (p.Lys450Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428914A>TCA348406736PROCc.1354A>T (p.Lys452Ter)
c.678A>T
c.1456A>T (p.Lys486Ter)
c.1537A>T (p.Lys513Ter)
c.1519A>T (p.Lys507Ter)
c.1417A>T (p.Lys473Ter)
n.1332-650T>A
c.1597A>T (p.Lys533Ter)
c.1699A>T (p.Lys567Ter)
c.1639A>T (p.Lys547Ter)
n.3607-650T>A
n.4043-650T>A
c.1522A>T (p.Lys508Ter)
c.1540A>T (p.Lys514Ter)
c.1297A>T (p.Lys433Ter)
c.1330A>T (p.Lys444Ter)
c.1348A>T (p.Lys450Ter)
2g.127428915A>CCA348406737PROCc.1355A>C (p.Lys452Thr)
c.679A>C
c.1457A>C (p.Lys486Thr)
c.1538A>C (p.Lys513Thr)
c.1520A>C (p.Lys507Thr)
c.1418A>C (p.Lys473Thr)
n.1332-651T>G
c.1598A>C (p.Lys533Thr)
c.1700A>C (p.Lys567Thr)
c.1640A>C (p.Lys547Thr)
n.3607-651T>G
n.4043-651T>G
c.1523A>C (p.Lys508Thr)
c.1541A>C (p.Lys514Thr)
c.1298A>C (p.Lys433Thr)
c.1331A>C (p.Lys444Thr)
c.1349A>C (p.Lys450Thr)
2g.127428915A>GCA348406738PROCc.1355A>G (p.Lys452Arg)
c.679A>G
c.1457A>G (p.Lys486Arg)
c.1538A>G (p.Lys513Arg)
c.1520A>G (p.Lys507Arg)
c.1418A>G (p.Lys473Arg)
n.1332-651T>C
c.1598A>G (p.Lys533Arg)
c.1700A>G (p.Lys567Arg)
c.1640A>G (p.Lys547Arg)
n.3607-651T>C
n.4043-651T>C
c.1523A>G (p.Lys508Arg)
c.1541A>G (p.Lys514Arg)
c.1298A>G (p.Lys433Arg)
c.1331A>G (p.Lys444Arg)
c.1349A>G (p.Lys450Arg)
2g.127428915A>TCA348406739PROCc.1355A>T (p.Lys452Met)
c.679A>T
c.1457A>T (p.Lys486Met)
c.1538A>T (p.Lys513Met)
c.1520A>T (p.Lys507Met)
c.1418A>T (p.Lys473Met)
n.1332-651T>A
c.1598A>T (p.Lys533Met)
c.1700A>T (p.Lys567Met)
c.1640A>T (p.Lys547Met)
n.3607-651T>A
n.4043-651T>A
c.1523A>T (p.Lys508Met)
c.1541A>T (p.Lys514Met)
c.1298A>T (p.Lys433Met)
c.1331A>T (p.Lys444Met)
c.1349A>T (p.Lys450Met)
2g.127428916G>ACA1859573PROCc.1356G>A (p.Lys452=)
c.680G>A
c.1458G>A (p.Lys486=)
c.1539G>A (p.Lys513=)
c.1521G>A (p.Lys507=)
c.1419G>A (p.Lys473=)
n.1332-652C>T
c.1599G>A (p.Lys533=)
c.1701G>A (p.Lys567=)
c.1641G>A (p.Lys547=)
n.3607-652C>T
n.4043-652C>T
c.1524G>A (p.Lys508=)
c.1542G>A (p.Lys514=)
c.1299G>A (p.Lys433=)
c.1332G>A (p.Lys444=)
c.1350G>A (p.Lys450=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428916G>CCA348406740PROCc.1356G>C (p.Lys452Asn)
c.680G>C
c.1458G>C (p.Lys486Asn)
c.1539G>C (p.Lys513Asn)
c.1521G>C (p.Lys507Asn)
c.1419G>C (p.Lys473Asn)
n.1332-652C>G
c.1599G>C (p.Lys533Asn)
c.1701G>C (p.Lys567Asn)
c.1641G>C (p.Lys547Asn)
n.3607-652C>G
n.4043-652C>G
c.1524G>C (p.Lys508Asn)
c.1542G>C (p.Lys514Asn)
c.1299G>C (p.Lys433Asn)
c.1332G>C (p.Lys444Asn)
c.1350G>C (p.Lys450Asn)
2g.127428916G=CA1286884715PROCc.1356G= (p.Lys452=)
c.680G=
c.1458G= (p.Lys486=)
c.1539G= (p.Lys513=)
c.1521G= (p.Lys507=)
c.1419G= (p.Lys473=)
n.1332-652C=
c.1599G= (p.Lys533=)
c.1701G= (p.Lys567=)
c.1641G= (p.Lys547=)
n.3607-652C=
n.4043-652C=
c.1524G= (p.Lys508=)
c.1542G= (p.Lys514=)
c.1299G= (p.Lys433=)
c.1332G= (p.Lys444=)
c.1350G= (p.Lys450=)
2g.127428916G>TCA348406741PROCc.1356G>T (p.Lys452Asn)
c.680G>T
c.1458G>T (p.Lys486Asn)
c.1539G>T (p.Lys513Asn)
c.1521G>T (p.Lys507Asn)
c.1419G>T (p.Lys473Asn)
n.1332-652C>A
c.1599G>T (p.Lys533Asn)
c.1701G>T (p.Lys567Asn)
c.1641G>T (p.Lys547Asn)
n.3607-652C>A
n.4043-652C>A
c.1524G>T (p.Lys508Asn)
c.1542G>T (p.Lys514Asn)
c.1299G>T (p.Lys433Asn)
c.1332G>T (p.Lys444Asn)
c.1350G>T (p.Lys450Asn)
2g.127428917G>ACA348406742PROCc.1357G>A (p.Glu453Lys)
c.681G>A
c.1459G>A (p.Glu487Lys)
c.1540G>A (p.Glu514Lys)
c.1522G>A (p.Glu508Lys)
c.1420G>A (p.Glu474Lys)
n.1332-653C>T
c.1600G>A (p.Glu534Lys)
c.1702G>A (p.Glu568Lys)
c.1642G>A (p.Glu548Lys)
n.3607-653C>T
n.4043-653C>T
c.1525G>A (p.Glu509Lys)
c.1543G>A (p.Glu515Lys)
c.1300G>A (p.Glu434Lys)
c.1333G>A (p.Glu445Lys)
c.1351G>A (p.Glu451Lys)
2g.127428917G>CCA348406743PROCc.1357G>C (p.Glu453Gln)
c.681G>C
c.1459G>C (p.Glu487Gln)
c.1540G>C (p.Glu514Gln)
c.1522G>C (p.Glu508Gln)
c.1420G>C (p.Glu474Gln)
n.1332-653C>G
c.1600G>C (p.Glu534Gln)
c.1702G>C (p.Glu568Gln)
c.1642G>C (p.Glu548Gln)
n.3607-653C>G
n.4043-653C>G
c.1525G>C (p.Glu509Gln)
c.1543G>C (p.Glu515Gln)
c.1300G>C (p.Glu434Gln)
c.1333G>C (p.Glu445Gln)
c.1351G>C (p.Glu451Gln)
2g.127428917G>TCA348406744PROCc.1357G>T (p.Glu453Ter)
c.681G>T
c.1459G>T (p.Glu487Ter)
c.1540G>T (p.Glu514Ter)
c.1522G>T (p.Glu508Ter)
c.1420G>T (p.Glu474Ter)
n.1332-653C>A
c.1600G>T (p.Glu534Ter)
c.1702G>T (p.Glu568Ter)
c.1642G>T (p.Glu548Ter)
n.3607-653C>A
n.4043-653C>A
c.1525G>T (p.Glu509Ter)
c.1543G>T (p.Glu515Ter)
c.1300G>T (p.Glu434Ter)
c.1333G>T (p.Glu445Ter)
c.1351G>T (p.Glu451Ter)
2g.127428918A>CCA348406746PROCc.1358A>C (p.Glu453Ala)
c.682A>C
c.1460A>C (p.Glu487Ala)
c.1541A>C (p.Glu514Ala)
c.1523A>C (p.Glu508Ala)
c.1421A>C (p.Glu474Ala)
n.1332-654T>G
c.1601A>C (p.Glu534Ala)
c.1703A>C (p.Glu568Ala)
c.1643A>C (p.Glu548Ala)
n.3607-654T>G
n.4043-654T>G
c.1526A>C (p.Glu509Ala)
c.1544A>C (p.Glu515Ala)
c.1301A>C (p.Glu434Ala)
c.1334A>C (p.Glu445Ala)
c.1352A>C (p.Glu451Ala)
2g.127428918A>GCA348406747PROCc.1358A>G (p.Glu453Gly)
c.682A>G
c.1460A>G (p.Glu487Gly)
c.1541A>G (p.Glu514Gly)
c.1523A>G (p.Glu508Gly)
c.1421A>G (p.Glu474Gly)
n.1332-654T>C
c.1601A>G (p.Glu534Gly)
c.1703A>G (p.Glu568Gly)
c.1643A>G (p.Glu548Gly)
n.3607-654T>C
n.4043-654T>C
c.1526A>G (p.Glu509Gly)
c.1544A>G (p.Glu515Gly)
c.1301A>G (p.Glu434Gly)
c.1334A>G (p.Glu445Gly)
c.1352A>G (p.Glu451Gly)
 gnomAD v4
2g.127428918A>TCA348406745PROCc.1358A>T (p.Glu453Val)
c.682A>T
c.1460A>T (p.Glu487Val)
c.1541A>T (p.Glu514Val)
c.1523A>T (p.Glu508Val)
c.1421A>T (p.Glu474Val)
n.1332-654T>A
c.1601A>T (p.Glu534Val)
c.1703A>T (p.Glu568Val)
c.1643A>T (p.Glu548Val)
n.3607-654T>A
n.4043-654T>A
c.1526A>T (p.Glu509Val)
c.1544A>T (p.Glu515Val)
c.1301A>T (p.Glu434Val)
c.1334A>T (p.Glu445Val)
c.1352A>T (p.Glu451Val)
 gnomAD v4

Number of alleles fetched