Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127428632T>ACA348405700PROCc.1072T>A (p.Phe358Ile)
c.396T>A
c.1174T>A (p.Phe392Ile)
c.1255T>A (p.Phe419Ile)
c.1237T>A (p.Phe413Ile)
c.1135T>A (p.Phe379Ile)
n.1332-368A>T
c.1315T>A (p.Phe439Ile)
c.1417T>A (p.Phe473Ile)
c.1357T>A (p.Phe453Ile)
n.3607-368A>T
n.4043-368A>T
c.1240T>A (p.Phe414Ile)
c.1258T>A (p.Phe420Ile)
c.1015T>A (p.Phe339Ile)
c.1048T>A (p.Phe350Ile)
c.1066T>A (p.Phe356Ile)
2g.127428632T>CCA348405701PROCc.1072T>C (p.Phe358Leu)
c.396T>C
c.1174T>C (p.Phe392Leu)
c.1255T>C (p.Phe419Leu)
c.1237T>C (p.Phe413Leu)
c.1135T>C (p.Phe379Leu)
n.1332-368A>G
c.1315T>C (p.Phe439Leu)
c.1417T>C (p.Phe473Leu)
c.1357T>C (p.Phe453Leu)
n.3607-368A>G
n.4043-368A>G
c.1240T>C (p.Phe414Leu)
c.1258T>C (p.Phe420Leu)
c.1015T>C (p.Phe339Leu)
c.1048T>C (p.Phe350Leu)
c.1066T>C (p.Phe356Leu)
 dbSNP gnomAD v2
2g.127428632T>GCA348405702PROCc.1072T>G (p.Phe358Val)
c.396T>G
c.1174T>G (p.Phe392Val)
c.1255T>G (p.Phe419Val)
c.1237T>G (p.Phe413Val)
c.1135T>G (p.Phe379Val)
n.1332-368A>C
c.1315T>G (p.Phe439Val)
c.1417T>G (p.Phe473Val)
c.1357T>G (p.Phe453Val)
n.3607-368A>C
n.4043-368A>C
c.1240T>G (p.Phe414Val)
c.1258T>G (p.Phe420Val)
c.1015T>G (p.Phe339Val)
c.1048T>G (p.Phe350Val)
c.1066T>G (p.Phe356Val)
2g.127428632T=CA1286884561PROCc.1072T= (p.Phe358=)
c.396T=
c.1174T= (p.Phe392=)
c.1255T= (p.Phe419=)
c.1237T= (p.Phe413=)
c.1135T= (p.Phe379=)
n.1332-368A=
c.1315T= (p.Phe439=)
c.1417T= (p.Phe473=)
c.1357T= (p.Phe453=)
n.3607-368A=
n.4043-368A=
c.1240T= (p.Phe414=)
c.1258T= (p.Phe420=)
c.1015T= (p.Phe339=)
c.1048T= (p.Phe350=)
c.1066T= (p.Phe356=)
2g.127428633T>ACA348405703PROCc.1073T>A (p.Phe358Tyr)
c.397T>A
c.1175T>A (p.Phe392Tyr)
c.1256T>A (p.Phe419Tyr)
c.1238T>A (p.Phe413Tyr)
c.1136T>A (p.Phe379Tyr)
n.1332-369A>T
c.1316T>A (p.Phe439Tyr)
c.1418T>A (p.Phe473Tyr)
c.1358T>A (p.Phe453Tyr)
n.3607-369A>T
n.4043-369A>T
c.1241T>A (p.Phe414Tyr)
c.1259T>A (p.Phe420Tyr)
c.1016T>A (p.Phe339Tyr)
c.1049T>A (p.Phe350Tyr)
c.1067T>A (p.Phe356Tyr)
2g.127428633T>CCA348405704PROCc.1073T>C (p.Phe358Ser)
c.397T>C
c.1175T>C (p.Phe392Ser)
c.1256T>C (p.Phe419Ser)
c.1238T>C (p.Phe413Ser)
c.1136T>C (p.Phe379Ser)
n.1332-369A>G
c.1316T>C (p.Phe439Ser)
c.1418T>C (p.Phe473Ser)
c.1358T>C (p.Phe453Ser)
n.3607-369A>G
n.4043-369A>G
c.1241T>C (p.Phe414Ser)
c.1259T>C (p.Phe420Ser)
c.1016T>C (p.Phe339Ser)
c.1049T>C (p.Phe350Ser)
c.1067T>C (p.Phe356Ser)
2g.127428633T>GCA348405705PROCc.1073T>G (p.Phe358Cys)
c.397T>G
c.1175T>G (p.Phe392Cys)
c.1256T>G (p.Phe419Cys)
c.1238T>G (p.Phe413Cys)
c.1136T>G (p.Phe379Cys)
n.1332-369A>C
c.1316T>G (p.Phe439Cys)
c.1418T>G (p.Phe473Cys)
c.1358T>G (p.Phe453Cys)
n.3607-369A>C
n.4043-369A>C
c.1241T>G (p.Phe414Cys)
c.1259T>G (p.Phe420Cys)
c.1016T>G (p.Phe339Cys)
c.1049T>G (p.Phe350Cys)
c.1067T>G (p.Phe356Cys)
2g.127428634C>ACA55351063PROCc.1074C>A (p.Phe358Leu)
c.398C>A
c.1176C>A (p.Phe392Leu)
c.1257C>A (p.Phe419Leu)
c.1239C>A (p.Phe413Leu)
c.1137C>A (p.Phe379Leu)
n.1332-370G>T
c.1317C>A (p.Phe439Leu)
c.1419C>A (p.Phe473Leu)
c.1359C>A (p.Phe453Leu)
n.3607-370G>T
n.4043-370G>T
c.1242C>A (p.Phe414Leu)
c.1260C>A (p.Phe420Leu)
c.1017C>A (p.Phe339Leu)
c.1050C>A (p.Phe350Leu)
c.1068C>A (p.Phe356Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428634C=CA1286884562PROCc.1074C= (p.Phe358=)
c.398C=
c.1176C= (p.Phe392=)
c.1257C= (p.Phe419=)
c.1239C= (p.Phe413=)
c.1137C= (p.Phe379=)
n.1332-370G=
c.1317C= (p.Phe439=)
c.1419C= (p.Phe473=)
c.1359C= (p.Phe453=)
n.3607-370G=
n.4043-370G=
c.1242C= (p.Phe414=)
c.1260C= (p.Phe420=)
c.1017C= (p.Phe339=)
c.1050C= (p.Phe350=)
c.1068C= (p.Phe356=)
2g.127428634C>GCA348405706PROCc.1074C>G (p.Phe358Leu)
c.398C>G
c.1176C>G (p.Phe392Leu)
c.1257C>G (p.Phe419Leu)
c.1239C>G (p.Phe413Leu)
c.1137C>G (p.Phe379Leu)
n.1332-370G>C
c.1317C>G (p.Phe439Leu)
c.1419C>G (p.Phe473Leu)
c.1359C>G (p.Phe453Leu)
n.3607-370G>C
n.4043-370G>C
c.1242C>G (p.Phe414Leu)
c.1260C>G (p.Phe420Leu)
c.1017C>G (p.Phe339Leu)
c.1050C>G (p.Phe350Leu)
c.1068C>G (p.Phe356Leu)
2g.127428634C>TCA1859517PROCc.1074C>T (p.Phe358=)
c.398C>T
c.1176C>T (p.Phe392=)
c.1257C>T (p.Phe419=)
c.1239C>T (p.Phe413=)
c.1137C>T (p.Phe379=)
n.1332-370G>A
c.1317C>T (p.Phe439=)
c.1419C>T (p.Phe473=)
c.1359C>T (p.Phe453=)
n.3607-370G>A
n.4043-370G>A
c.1242C>T (p.Phe414=)
c.1260C>T (p.Phe420=)
c.1017C>T (p.Phe339=)
c.1050C>T (p.Phe350=)
c.1068C>T (p.Phe356=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428635G>ACA1859518PROCc.1075G>A (p.Val359Ile)
c.399G>A
c.1177G>A (p.Val393Ile)
c.1258G>A (p.Val420Ile)
c.1240G>A (p.Val414Ile)
c.1138G>A (p.Val380Ile)
n.1332-371C>T
c.1318G>A (p.Val440Ile)
c.1420G>A (p.Val474Ile)
c.1360G>A (p.Val454Ile)
n.3607-371C>T
n.4043-371C>T
c.1243G>A (p.Val415Ile)
c.1261G>A (p.Val421Ile)
c.1018G>A (p.Val340Ile)
c.1051G>A (p.Val351Ile)
c.1069G>A (p.Val357Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.127428635G>CCA348405707PROCc.1075G>C (p.Val359Leu)
c.399G>C
c.1177G>C (p.Val393Leu)
c.1258G>C (p.Val420Leu)
c.1240G>C (p.Val414Leu)
c.1138G>C (p.Val380Leu)
n.1332-371C>G
c.1318G>C (p.Val440Leu)
c.1420G>C (p.Val474Leu)
c.1360G>C (p.Val454Leu)
n.3607-371C>G
n.4043-371C>G
c.1243G>C (p.Val415Leu)
c.1261G>C (p.Val421Leu)
c.1018G>C (p.Val340Leu)
c.1051G>C (p.Val351Leu)
c.1069G>C (p.Val357Leu)
2g.127428635G=CA1286884563PROCc.1075G= (p.Val359=)
c.399G=
c.1177G= (p.Val393=)
c.1258G= (p.Val420=)
c.1240G= (p.Val414=)
c.1138G= (p.Val380=)
n.1332-371C=
c.1318G= (p.Val440=)
c.1420G= (p.Val474=)
c.1360G= (p.Val454=)
n.3607-371C=
n.4043-371C=
c.1243G= (p.Val415=)
c.1261G= (p.Val421=)
c.1018G= (p.Val340=)
c.1051G= (p.Val351=)
c.1069G= (p.Val357=)
2g.127428635G>TCA1859519PROCc.1075G>T (p.Val359Phe)
c.399G>T
c.1177G>T (p.Val393Phe)
c.1258G>T (p.Val420Phe)
c.1240G>T (p.Val414Phe)
c.1138G>T (p.Val380Phe)
n.1332-371C>A
c.1318G>T (p.Val440Phe)
c.1420G>T (p.Val474Phe)
c.1360G>T (p.Val454Phe)
n.3607-371C>A
n.4043-371C>A
c.1243G>T (p.Val415Phe)
c.1261G>T (p.Val421Phe)
c.1018G>T (p.Val340Phe)
c.1051G>T (p.Val351Phe)
c.1069G>T (p.Val357Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428636T>ACA348405708PROCc.1076T>A (p.Val359Asp)
c.400T>A
c.1178T>A (p.Val393Asp)
c.1259T>A (p.Val420Asp)
c.1241T>A (p.Val414Asp)
c.1139T>A (p.Val380Asp)
n.1332-372A>T
c.1319T>A (p.Val440Asp)
c.1421T>A (p.Val474Asp)
c.1361T>A (p.Val454Asp)
n.3607-372A>T
n.4043-372A>T
c.1244T>A (p.Val415Asp)
c.1262T>A (p.Val421Asp)
c.1019T>A (p.Val340Asp)
c.1052T>A (p.Val351Asp)
c.1070T>A (p.Val357Asp)
2g.127428636T>CCA348405709PROCc.1076T>C (p.Val359Ala)
c.400T>C
c.1178T>C (p.Val393Ala)
c.1259T>C (p.Val420Ala)
c.1241T>C (p.Val414Ala)
c.1139T>C (p.Val380Ala)
n.1332-372A>G
c.1319T>C (p.Val440Ala)
c.1421T>C (p.Val474Ala)
c.1361T>C (p.Val454Ala)
n.3607-372A>G
n.4043-372A>G
c.1244T>C (p.Val415Ala)
c.1262T>C (p.Val421Ala)
c.1019T>C (p.Val340Ala)
c.1052T>C (p.Val351Ala)
c.1070T>C (p.Val357Ala)
2g.127428636T>GCA348405710PROCc.1076T>G (p.Val359Gly)
c.400T>G
c.1178T>G (p.Val393Gly)
c.1259T>G (p.Val420Gly)
c.1241T>G (p.Val414Gly)
c.1139T>G (p.Val380Gly)
n.1332-372A>C
c.1319T>G (p.Val440Gly)
c.1421T>G (p.Val474Gly)
c.1361T>G (p.Val454Gly)
n.3607-372A>C
n.4043-372A>C
c.1244T>G (p.Val415Gly)
c.1262T>G (p.Val421Gly)
c.1019T>G (p.Val340Gly)
c.1052T>G (p.Val351Gly)
c.1070T>G (p.Val357Gly)
2g.127428637C>ACA428873018PROCc.1077C>A (p.Val359=)
c.401C>A
c.1179C>A (p.Val393=)
c.1260C>A (p.Val420=)
c.1242C>A (p.Val414=)
c.1140C>A (p.Val380=)
n.1332-373G>T
c.1320C>A (p.Val440=)
c.1422C>A (p.Val474=)
c.1362C>A (p.Val454=)
n.3607-373G>T
n.4043-373G>T
c.1245C>A (p.Val415=)
c.1263C>A (p.Val421=)
c.1020C>A (p.Val340=)
c.1053C>A (p.Val351=)
c.1071C>A (p.Val357=)
2g.127428637C=CA1286884564PROCc.1077C= (p.Val359=)
c.401C=
c.1179C= (p.Val393=)
c.1260C= (p.Val420=)
c.1242C= (p.Val414=)
c.1140C= (p.Val380=)
n.1332-373G=
c.1320C= (p.Val440=)
c.1422C= (p.Val474=)
c.1362C= (p.Val454=)
n.3607-373G=
n.4043-373G=
c.1245C= (p.Val415=)
c.1263C= (p.Val421=)
c.1020C= (p.Val340=)
c.1053C= (p.Val351=)
c.1071C= (p.Val357=)
2g.127428637C>GCA1859520PROCc.1077C>G (p.Val359=)
c.401C>G
c.1179C>G (p.Val393=)
c.1260C>G (p.Val420=)
c.1242C>G (p.Val414=)
c.1140C>G (p.Val380=)
n.1332-373G>C
c.1320C>G (p.Val440=)
c.1422C>G (p.Val474=)
c.1362C>G (p.Val454=)
n.3607-373G>C
n.4043-373G>C
c.1245C>G (p.Val415=)
c.1263C>G (p.Val421=)
c.1020C>G (p.Val340=)
c.1053C>G (p.Val351=)
c.1071C>G (p.Val357=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428637C>TCA428873017PROCc.1077C>T (p.Val359=)
c.401C>T
c.1179C>T (p.Val393=)
c.1260C>T (p.Val420=)
c.1242C>T (p.Val414=)
c.1140C>T (p.Val380=)
n.1332-373G>A
c.1320C>T (p.Val440=)
c.1422C>T (p.Val474=)
c.1362C>T (p.Val454=)
n.3607-373G>A
n.4043-373G>A
c.1245C>T (p.Val415=)
c.1263C>T (p.Val421=)
c.1020C>T (p.Val340=)
c.1053C>T (p.Val351=)
c.1071C>T (p.Val357=)
2g.127428638C>ACA348405711PROCc.1078C>A (p.Leu360Ile)
c.402C>A
c.1180C>A (p.Leu394Ile)
c.1261C>A (p.Leu421Ile)
c.1243C>A (p.Leu415Ile)
c.1141C>A (p.Leu381Ile)
n.1332-374G>T
c.1321C>A (p.Leu441Ile)
c.1423C>A (p.Leu475Ile)
c.1363C>A (p.Leu455Ile)
n.3607-374G>T
n.4043-374G>T
c.1246C>A (p.Leu416Ile)
c.1264C>A (p.Leu422Ile)
c.1021C>A (p.Leu341Ile)
c.1054C>A (p.Leu352Ile)
c.1072C>A (p.Leu358Ile)
2g.127428638C>GCA348405712PROCc.1078C>G (p.Leu360Val)
c.402C>G
c.1180C>G (p.Leu394Val)
c.1261C>G (p.Leu421Val)
c.1243C>G (p.Leu415Val)
c.1141C>G (p.Leu381Val)
n.1332-374G>C
c.1321C>G (p.Leu441Val)
c.1423C>G (p.Leu475Val)
c.1363C>G (p.Leu455Val)
n.3607-374G>C
n.4043-374G>C
c.1246C>G (p.Leu416Val)
c.1264C>G (p.Leu422Val)
c.1021C>G (p.Leu341Val)
c.1054C>G (p.Leu352Val)
c.1072C>G (p.Leu358Val)
2g.127428638C>TCA348405713PROCc.1078C>T (p.Leu360Phe)
c.402C>T
c.1180C>T (p.Leu394Phe)
c.1261C>T (p.Leu421Phe)
c.1243C>T (p.Leu415Phe)
c.1141C>T (p.Leu381Phe)
n.1332-374G>A
c.1321C>T (p.Leu441Phe)
c.1423C>T (p.Leu475Phe)
c.1363C>T (p.Leu455Phe)
n.3607-374G>A
n.4043-374G>A
c.1246C>T (p.Leu416Phe)
c.1264C>T (p.Leu422Phe)
c.1021C>T (p.Leu341Phe)
c.1054C>T (p.Leu352Phe)
c.1072C>T (p.Leu358Phe)
2g.127428639T>ACA348405714PROCc.1079T>A (p.Leu360His)
c.403T>A
c.1181T>A (p.Leu394His)
c.1262T>A (p.Leu421His)
c.1244T>A (p.Leu415His)
c.1142T>A (p.Leu381His)
n.1332-375A>T
c.1322T>A (p.Leu441His)
c.1424T>A (p.Leu475His)
c.1364T>A (p.Leu455His)
n.3607-375A>T
n.4043-375A>T
c.1247T>A (p.Leu416His)
c.1265T>A (p.Leu422His)
c.1022T>A (p.Leu341His)
c.1055T>A (p.Leu352His)
c.1073T>A (p.Leu358His)
2g.127428639T>CCA348405715PROCc.1079T>C (p.Leu360Pro)
c.403T>C
c.1181T>C (p.Leu394Pro)
c.1262T>C (p.Leu421Pro)
c.1244T>C (p.Leu415Pro)
c.1142T>C (p.Leu381Pro)
n.1332-375A>G
c.1322T>C (p.Leu441Pro)
c.1424T>C (p.Leu475Pro)
c.1364T>C (p.Leu455Pro)
n.3607-375A>G
n.4043-375A>G
c.1247T>C (p.Leu416Pro)
c.1265T>C (p.Leu422Pro)
c.1022T>C (p.Leu341Pro)
c.1055T>C (p.Leu352Pro)
c.1073T>C (p.Leu358Pro)
2g.127428639T>GCA348405716PROCc.1079T>G (p.Leu360Arg)
c.403T>G
c.1181T>G (p.Leu394Arg)
c.1262T>G (p.Leu421Arg)
c.1244T>G (p.Leu415Arg)
c.1142T>G (p.Leu381Arg)
n.1332-375A>C
c.1322T>G (p.Leu441Arg)
c.1424T>G (p.Leu475Arg)
c.1364T>G (p.Leu455Arg)
n.3607-375A>C
n.4043-375A>C
c.1247T>G (p.Leu416Arg)
c.1265T>G (p.Leu422Arg)
c.1022T>G (p.Leu341Arg)
c.1055T>G (p.Leu352Arg)
c.1073T>G (p.Leu358Arg)
2g.127428642_127428647delCA2586969916PROCc.1082_1087del (p.Asn361_Phe362del)
c.406_411del
c.1184_1189del (p.Asn395_Phe396del)
c.1265_1270del (p.Asn422_Phe423del)
c.1247_1252del (p.Asn416_Phe417del)
c.1145_1150del (p.Asn382_Phe383del)
n.1332-380_1332-375del
c.1325_1330del (p.Asn442_Phe443del)
c.1427_1432del (p.Asn476_Phe477del)
c.1367_1372del (p.Asn456_Phe457del)
n.3607-380_3607-375del
n.4043-380_4043-375del
c.1250_1255del (p.Asn417_Phe418del)
c.1268_1273del (p.Asn423_Phe424del)
c.1025_1030del (p.Asn342_Phe343del)
c.1058_1063del (p.Asn353_Phe354del)
c.1076_1081del (p.Asn359_Phe360del)
2g.127428640C>ACA428873022PROCc.1080C>A (p.Leu360=)
c.404C>A
c.1182C>A (p.Leu394=)
c.1263C>A (p.Leu421=)
c.1245C>A (p.Leu415=)
c.1143C>A (p.Leu381=)
n.1332-376G>T
c.1323C>A (p.Leu441=)
c.1425C>A (p.Leu475=)
c.1365C>A (p.Leu455=)
n.3607-376G>T
n.4043-376G>T
c.1248C>A (p.Leu416=)
c.1266C>A (p.Leu422=)
c.1023C>A (p.Leu341=)
c.1056C>A (p.Leu352=)
c.1074C>A (p.Leu358=)
2g.127428640C>GCA428873021PROCc.1080C>G (p.Leu360=)
c.404C>G
c.1182C>G (p.Leu394=)
c.1263C>G (p.Leu421=)
c.1245C>G (p.Leu415=)
c.1143C>G (p.Leu381=)
n.1332-376G>C
c.1323C>G (p.Leu441=)
c.1425C>G (p.Leu475=)
c.1365C>G (p.Leu455=)
n.3607-376G>C
n.4043-376G>C
c.1248C>G (p.Leu416=)
c.1266C>G (p.Leu422=)
c.1023C>G (p.Leu341=)
c.1056C>G (p.Leu352=)
c.1074C>G (p.Leu358=)
 ClinVar dbSNP
2g.127428640C>TCA428873020PROCc.1080C>T (p.Leu360=)
c.404C>T
c.1182C>T (p.Leu394=)
c.1263C>T (p.Leu421=)
c.1245C>T (p.Leu415=)
c.1143C>T (p.Leu381=)
n.1332-376G>A
c.1323C>T (p.Leu441=)
c.1425C>T (p.Leu475=)
c.1365C>T (p.Leu455=)
n.3607-376G>A
n.4043-376G>A
c.1248C>T (p.Leu416=)
c.1266C>T (p.Leu422=)
c.1023C>T (p.Leu341=)
c.1056C>T (p.Leu352=)
c.1074C>T (p.Leu358=)
2g.127428641A>CCA348405718PROCc.1081A>C (p.Asn361His)
c.405A>C
c.1183A>C (p.Asn395His)
c.1264A>C (p.Asn422His)
c.1246A>C (p.Asn416His)
c.1144A>C (p.Asn382His)
n.1332-377T>G
c.1324A>C (p.Asn442His)
c.1426A>C (p.Asn476His)
c.1366A>C (p.Asn456His)
n.3607-377T>G
n.4043-377T>G
c.1249A>C (p.Asn417His)
c.1267A>C (p.Asn423His)
c.1024A>C (p.Asn342His)
c.1057A>C (p.Asn353His)
c.1075A>C (p.Asn359His)
2g.127428641A>GCA348405719PROCc.1081A>G (p.Asn361Asp)
c.405A>G
c.1183A>G (p.Asn395Asp)
c.1264A>G (p.Asn422Asp)
c.1246A>G (p.Asn416Asp)
c.1144A>G (p.Asn382Asp)
n.1332-377T>C
c.1324A>G (p.Asn442Asp)
c.1426A>G (p.Asn476Asp)
c.1366A>G (p.Asn456Asp)
n.3607-377T>C
n.4043-377T>C
c.1249A>G (p.Asn417Asp)
c.1267A>G (p.Asn423Asp)
c.1024A>G (p.Asn342Asp)
c.1057A>G (p.Asn353Asp)
c.1075A>G (p.Asn359Asp)
2g.127428641A>TCA348405717PROCc.1081A>T (p.Asn361Tyr)
c.405A>T
c.1183A>T (p.Asn395Tyr)
c.1264A>T (p.Asn422Tyr)
c.1246A>T (p.Asn416Tyr)
c.1144A>T (p.Asn382Tyr)
n.1332-377T>A
c.1324A>T (p.Asn442Tyr)
c.1426A>T (p.Asn476Tyr)
c.1366A>T (p.Asn456Tyr)
n.3607-377T>A
n.4043-377T>A
c.1249A>T (p.Asn417Tyr)
c.1267A>T (p.Asn423Tyr)
c.1024A>T (p.Asn342Tyr)
c.1057A>T (p.Asn353Tyr)
c.1075A>T (p.Asn359Tyr)
2g.127428642A>CCA348405720PROCc.1082A>C (p.Asn361Thr)
c.406A>C
c.1184A>C (p.Asn395Thr)
c.1265A>C (p.Asn422Thr)
c.1247A>C (p.Asn416Thr)
c.1145A>C (p.Asn382Thr)
n.1332-378T>G
c.1325A>C (p.Asn442Thr)
c.1427A>C (p.Asn476Thr)
c.1367A>C (p.Asn456Thr)
n.3607-378T>G
n.4043-378T>G
c.1250A>C (p.Asn417Thr)
c.1268A>C (p.Asn423Thr)
c.1025A>C (p.Asn342Thr)
c.1058A>C (p.Asn353Thr)
c.1076A>C (p.Asn359Thr)
2g.127428642A>GCA348405722PROCc.1082A>G (p.Asn361Ser)
c.406A>G
c.1184A>G (p.Asn395Ser)
c.1265A>G (p.Asn422Ser)
c.1247A>G (p.Asn416Ser)
c.1145A>G (p.Asn382Ser)
n.1332-378T>C
c.1325A>G (p.Asn442Ser)
c.1427A>G (p.Asn476Ser)
c.1367A>G (p.Asn456Ser)
n.3607-378T>C
n.4043-378T>C
c.1250A>G (p.Asn417Ser)
c.1268A>G (p.Asn423Ser)
c.1025A>G (p.Asn342Ser)
c.1058A>G (p.Asn353Ser)
c.1076A>G (p.Asn359Ser)
 gnomAD v4
2g.127428642A>TCA348405721PROCc.1082A>T (p.Asn361Ile)
c.406A>T
c.1184A>T (p.Asn395Ile)
c.1265A>T (p.Asn422Ile)
c.1247A>T (p.Asn416Ile)
c.1145A>T (p.Asn382Ile)
n.1332-378T>A
c.1325A>T (p.Asn442Ile)
c.1427A>T (p.Asn476Ile)
c.1367A>T (p.Asn456Ile)
n.3607-378T>A
n.4043-378T>A
c.1250A>T (p.Asn417Ile)
c.1268A>T (p.Asn423Ile)
c.1025A>T (p.Asn342Ile)
c.1058A>T (p.Asn353Ile)
c.1076A>T (p.Asn359Ile)
2g.127428643C>ACA348405723PROCc.1083C>A (p.Asn361Lys)
c.407C>A
c.1185C>A (p.Asn395Lys)
c.1266C>A (p.Asn422Lys)
c.1248C>A (p.Asn416Lys)
c.1146C>A (p.Asn382Lys)
n.1332-379G>T
c.1326C>A (p.Asn442Lys)
c.1428C>A (p.Asn476Lys)
c.1368C>A (p.Asn456Lys)
n.3607-379G>T
n.4043-379G>T
c.1251C>A (p.Asn417Lys)
c.1269C>A (p.Asn423Lys)
c.1026C>A (p.Asn342Lys)
c.1059C>A (p.Asn353Lys)
c.1077C>A (p.Asn359Lys)
2g.127428643C>GCA348405724PROCc.1083C>G (p.Asn361Lys)
c.407C>G
c.1185C>G (p.Asn395Lys)
c.1266C>G (p.Asn422Lys)
c.1248C>G (p.Asn416Lys)
c.1146C>G (p.Asn382Lys)
n.1332-379G>C
c.1326C>G (p.Asn442Lys)
c.1428C>G (p.Asn476Lys)
c.1368C>G (p.Asn456Lys)
n.3607-379G>C
n.4043-379G>C
c.1251C>G (p.Asn417Lys)
c.1269C>G (p.Asn423Lys)
c.1026C>G (p.Asn342Lys)
c.1059C>G (p.Asn353Lys)
c.1077C>G (p.Asn359Lys)
2g.127428643C>TCA428873025PROCc.1083C>T (p.Asn361=)
c.407C>T
c.1185C>T (p.Asn395=)
c.1266C>T (p.Asn422=)
c.1248C>T (p.Asn416=)
c.1146C>T (p.Asn382=)
n.1332-379G>A
c.1326C>T (p.Asn442=)
c.1428C>T (p.Asn476=)
c.1368C>T (p.Asn456=)
n.3607-379G>A
n.4043-379G>A
c.1251C>T (p.Asn417=)
c.1269C>T (p.Asn423=)
c.1026C>T (p.Asn342=)
c.1059C>T (p.Asn353=)
c.1077C>T (p.Asn359=)
2g.127428644T>ACA348405725PROCc.1084T>A (p.Phe362Ile)
c.408T>A
c.1186T>A (p.Phe396Ile)
c.1267T>A (p.Phe423Ile)
c.1249T>A (p.Phe417Ile)
c.1147T>A (p.Phe383Ile)
n.1332-380A>T
c.1327T>A (p.Phe443Ile)
c.1429T>A (p.Phe477Ile)
c.1369T>A (p.Phe457Ile)
n.3607-380A>T
n.4043-380A>T
c.1252T>A (p.Phe418Ile)
c.1270T>A (p.Phe424Ile)
c.1027T>A (p.Phe343Ile)
c.1060T>A (p.Phe354Ile)
c.1078T>A (p.Phe360Ile)
 ClinVar dbSNP gnomAD v4
2g.127428644T>CCA348405726PROCc.1084T>C (p.Phe362Leu)
c.408T>C
c.1186T>C (p.Phe396Leu)
c.1267T>C (p.Phe423Leu)
c.1249T>C (p.Phe417Leu)
c.1147T>C (p.Phe383Leu)
n.1332-380A>G
c.1327T>C (p.Phe443Leu)
c.1429T>C (p.Phe477Leu)
c.1369T>C (p.Phe457Leu)
n.3607-380A>G
n.4043-380A>G
c.1252T>C (p.Phe418Leu)
c.1270T>C (p.Phe424Leu)
c.1027T>C (p.Phe343Leu)
c.1060T>C (p.Phe354Leu)
c.1078T>C (p.Phe360Leu)
2g.127428644T>GCA348405727PROCc.1084T>G (p.Phe362Val)
c.408T>G
c.1186T>G (p.Phe396Val)
c.1267T>G (p.Phe423Val)
c.1249T>G (p.Phe417Val)
c.1147T>G (p.Phe383Val)
n.1332-380A>C
c.1327T>G (p.Phe443Val)
c.1429T>G (p.Phe477Val)
c.1369T>G (p.Phe457Val)
n.3607-380A>C
n.4043-380A>C
c.1252T>G (p.Phe418Val)
c.1270T>G (p.Phe424Val)
c.1027T>G (p.Phe343Val)
c.1060T>G (p.Phe354Val)
c.1078T>G (p.Phe360Val)
2g.127428645T>ACA348405728PROCc.1085T>A (p.Phe362Tyr)
c.409T>A
c.1187T>A (p.Phe396Tyr)
c.1268T>A (p.Phe423Tyr)
c.1250T>A (p.Phe417Tyr)
c.1148T>A (p.Phe383Tyr)
n.1332-381A>T
c.1328T>A (p.Phe443Tyr)
c.1430T>A (p.Phe477Tyr)
c.1370T>A (p.Phe457Tyr)
n.3607-381A>T
n.4043-381A>T
c.1253T>A (p.Phe418Tyr)
c.1271T>A (p.Phe424Tyr)
c.1028T>A (p.Phe343Tyr)
c.1061T>A (p.Phe354Tyr)
c.1079T>A (p.Phe360Tyr)
2g.127428645T>CCA348405729PROCc.1085T>C (p.Phe362Ser)
c.409T>C
c.1187T>C (p.Phe396Ser)
c.1268T>C (p.Phe423Ser)
c.1250T>C (p.Phe417Ser)
c.1148T>C (p.Phe383Ser)
n.1332-381A>G
c.1328T>C (p.Phe443Ser)
c.1430T>C (p.Phe477Ser)
c.1370T>C (p.Phe457Ser)
n.3607-381A>G
n.4043-381A>G
c.1253T>C (p.Phe418Ser)
c.1271T>C (p.Phe424Ser)
c.1028T>C (p.Phe343Ser)
c.1061T>C (p.Phe354Ser)
c.1079T>C (p.Phe360Ser)
2g.127428645T>GCA348405730PROCc.1085T>G (p.Phe362Cys)
c.409T>G
c.1187T>G (p.Phe396Cys)
c.1268T>G (p.Phe423Cys)
c.1250T>G (p.Phe417Cys)
c.1148T>G (p.Phe383Cys)
n.1332-381A>C
c.1328T>G (p.Phe443Cys)
c.1430T>G (p.Phe477Cys)
c.1370T>G (p.Phe457Cys)
n.3607-381A>C
n.4043-381A>C
c.1253T>G (p.Phe418Cys)
c.1271T>G (p.Phe424Cys)
c.1028T>G (p.Phe343Cys)
c.1061T>G (p.Phe354Cys)
c.1079T>G (p.Phe360Cys)
2g.127428648_127428650delCA2577090332PROCc.1088_1090del (p.Ile363del)
c.412_414del
c.1190_1192del (p.Ile397del)
c.1271_1273del (p.Ile424del)
c.1253_1255del (p.Ile418del)
c.1151_1153del (p.Ile384del)
n.1332-383_1332-381del
c.1331_1333del (p.Ile444del)
c.1433_1435del (p.Ile478del)
c.1373_1375del (p.Ile458del)
n.3607-383_3607-381del
n.4043-383_4043-381del
c.1256_1258del (p.Ile419del)
c.1274_1276del (p.Ile425del)
c.1031_1033del (p.Ile344del)
c.1064_1066del (p.Ile355del)
c.1082_1084del (p.Ile361del)
2g.127428646C>ACA348405731PROCc.1086C>A (p.Phe362Leu)
c.410C>A
c.1188C>A (p.Phe396Leu)
c.1269C>A (p.Phe423Leu)
c.1251C>A (p.Phe417Leu)
c.1149C>A (p.Phe383Leu)
n.1332-382G>T
c.1329C>A (p.Phe443Leu)
c.1431C>A (p.Phe477Leu)
c.1371C>A (p.Phe457Leu)
n.3607-382G>T
n.4043-382G>T
c.1254C>A (p.Phe418Leu)
c.1272C>A (p.Phe424Leu)
c.1029C>A (p.Phe343Leu)
c.1062C>A (p.Phe354Leu)
c.1080C>A (p.Phe360Leu)
2g.127428646C=CA1286884565PROCc.1086C= (p.Phe362=)
c.410C=
c.1188C= (p.Phe396=)
c.1269C= (p.Phe423=)
c.1251C= (p.Phe417=)
c.1149C= (p.Phe383=)
n.1332-382G=
c.1329C= (p.Phe443=)
c.1431C= (p.Phe477=)
c.1371C= (p.Phe457=)
n.3607-382G=
n.4043-382G=
c.1254C= (p.Phe418=)
c.1272C= (p.Phe424=)
c.1029C= (p.Phe343=)
c.1062C= (p.Phe354=)
c.1080C= (p.Phe360=)
2g.127428646C>GCA348405732PROCc.1086C>G (p.Phe362Leu)
c.410C>G
c.1188C>G (p.Phe396Leu)
c.1269C>G (p.Phe423Leu)
c.1251C>G (p.Phe417Leu)
c.1149C>G (p.Phe383Leu)
n.1332-382G>C
c.1329C>G (p.Phe443Leu)
c.1431C>G (p.Phe477Leu)
c.1371C>G (p.Phe457Leu)
n.3607-382G>C
n.4043-382G>C
c.1254C>G (p.Phe418Leu)
c.1272C>G (p.Phe424Leu)
c.1029C>G (p.Phe343Leu)
c.1062C>G (p.Phe354Leu)
c.1080C>G (p.Phe360Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.127428646C>TCA428873029PROCc.1086C>T (p.Phe362=)
c.410C>T
c.1188C>T (p.Phe396=)
c.1269C>T (p.Phe423=)
c.1251C>T (p.Phe417=)
c.1149C>T (p.Phe383=)
n.1332-382G>A
c.1329C>T (p.Phe443=)
c.1431C>T (p.Phe477=)
c.1371C>T (p.Phe457=)
n.3607-382G>A
n.4043-382G>A
c.1254C>T (p.Phe418=)
c.1272C>T (p.Phe424=)
c.1029C>T (p.Phe343=)
c.1062C>T (p.Phe354=)
c.1080C>T (p.Phe360=)
2g.127428647A>CCA348405735PROCc.1087A>C (p.Ile363Leu)
c.411A>C
c.1189A>C (p.Ile397Leu)
c.1270A>C (p.Ile424Leu)
c.1252A>C (p.Ile418Leu)
c.1150A>C (p.Ile384Leu)
n.1332-383T>G
c.1330A>C (p.Ile444Leu)
c.1432A>C (p.Ile478Leu)
c.1372A>C (p.Ile458Leu)
n.3607-383T>G
n.4043-383T>G
c.1255A>C (p.Ile419Leu)
c.1273A>C (p.Ile425Leu)
c.1030A>C (p.Ile344Leu)
c.1063A>C (p.Ile355Leu)
c.1081A>C (p.Ile361Leu)
2g.127428647A>GCA348405737PROCc.1087A>G (p.Ile363Val)
c.411A>G
c.1189A>G (p.Ile397Val)
c.1270A>G (p.Ile424Val)
c.1252A>G (p.Ile418Val)
c.1150A>G (p.Ile384Val)
n.1332-383T>C
c.1330A>G (p.Ile444Val)
c.1432A>G (p.Ile478Val)
c.1372A>G (p.Ile458Val)
n.3607-383T>C
n.4043-383T>C
c.1255A>G (p.Ile419Val)
c.1273A>G (p.Ile425Val)
c.1030A>G (p.Ile344Val)
c.1063A>G (p.Ile355Val)
c.1081A>G (p.Ile361Val)
2g.127428647A>TCA348405739PROCc.1087A>T (p.Ile363Phe)
c.411A>T
c.1189A>T (p.Ile397Phe)
c.1270A>T (p.Ile424Phe)
c.1252A>T (p.Ile418Phe)
c.1150A>T (p.Ile384Phe)
n.1332-383T>A
c.1330A>T (p.Ile444Phe)
c.1432A>T (p.Ile478Phe)
c.1372A>T (p.Ile458Phe)
n.3607-383T>A
n.4043-383T>A
c.1255A>T (p.Ile419Phe)
c.1273A>T (p.Ile425Phe)
c.1030A>T (p.Ile344Phe)
c.1063A>T (p.Ile355Phe)
c.1081A>T (p.Ile361Phe)
 gnomAD v4
2g.127428648T>ACA348405744PROCc.1088T>A (p.Ile363Asn)
c.412T>A
c.1190T>A (p.Ile397Asn)
c.1271T>A (p.Ile424Asn)
c.1253T>A (p.Ile418Asn)
c.1151T>A (p.Ile384Asn)
n.1332-384A>T
c.1331T>A (p.Ile444Asn)
c.1433T>A (p.Ile478Asn)
c.1373T>A (p.Ile458Asn)
n.3607-384A>T
n.4043-384A>T
c.1256T>A (p.Ile419Asn)
c.1274T>A (p.Ile425Asn)
c.1031T>A (p.Ile344Asn)
c.1064T>A (p.Ile355Asn)
c.1082T>A (p.Ile361Asn)
2g.127428648T>CCA348405743PROCc.1088T>C (p.Ile363Thr)
c.412T>C
c.1190T>C (p.Ile397Thr)
c.1271T>C (p.Ile424Thr)
c.1253T>C (p.Ile418Thr)
c.1151T>C (p.Ile384Thr)
n.1332-384A>G
c.1331T>C (p.Ile444Thr)
c.1433T>C (p.Ile478Thr)
c.1373T>C (p.Ile458Thr)
n.3607-384A>G
n.4043-384A>G
c.1256T>C (p.Ile419Thr)
c.1274T>C (p.Ile425Thr)
c.1031T>C (p.Ile344Thr)
c.1064T>C (p.Ile355Thr)
c.1082T>C (p.Ile361Thr)
2g.127428648T>GCA348405741PROCc.1088T>G (p.Ile363Ser)
c.412T>G
c.1190T>G (p.Ile397Ser)
c.1271T>G (p.Ile424Ser)
c.1253T>G (p.Ile418Ser)
c.1151T>G (p.Ile384Ser)
n.1332-384A>C
c.1331T>G (p.Ile444Ser)
c.1433T>G (p.Ile478Ser)
c.1373T>G (p.Ile458Ser)
n.3607-384A>C
n.4043-384A>C
c.1256T>G (p.Ile419Ser)
c.1274T>G (p.Ile425Ser)
c.1031T>G (p.Ile344Ser)
c.1064T>G (p.Ile355Ser)
c.1082T>G (p.Ile361Ser)
2g.127428649C>ACA428873031PROCc.1089C>A (p.Ile363=)
c.413C>A
c.1191C>A (p.Ile397=)
c.1272C>A (p.Ile424=)
c.1254C>A (p.Ile418=)
c.1152C>A (p.Ile384=)
n.1332-385G>T
c.1332C>A (p.Ile444=)
c.1434C>A (p.Ile478=)
c.1374C>A (p.Ile458=)
n.3607-385G>T
n.4043-385G>T
c.1257C>A (p.Ile419=)
c.1275C>A (p.Ile425=)
c.1032C>A (p.Ile344=)
c.1065C>A (p.Ile355=)
c.1083C>A (p.Ile361=)
2g.127428649C>GCA348405746PROCc.1089C>G (p.Ile363Met)
c.413C>G
c.1191C>G (p.Ile397Met)
c.1272C>G (p.Ile424Met)
c.1254C>G (p.Ile418Met)
c.1152C>G (p.Ile384Met)
n.1332-385G>C
c.1332C>G (p.Ile444Met)
c.1434C>G (p.Ile478Met)
c.1374C>G (p.Ile458Met)
n.3607-385G>C
n.4043-385G>C
c.1257C>G (p.Ile419Met)
c.1275C>G (p.Ile425Met)
c.1032C>G (p.Ile344Met)
c.1065C>G (p.Ile355Met)
c.1083C>G (p.Ile361Met)
2g.127428649C>TCA428873032PROCc.1089C>T (p.Ile363=)
c.413C>T
c.1191C>T (p.Ile397=)
c.1272C>T (p.Ile424=)
c.1254C>T (p.Ile418=)
c.1152C>T (p.Ile384=)
n.1332-385G>A
c.1332C>T (p.Ile444=)
c.1434C>T (p.Ile478=)
c.1374C>T (p.Ile458=)
n.3607-385G>A
n.4043-385G>A
c.1257C>T (p.Ile419=)
c.1275C>T (p.Ile425=)
c.1032C>T (p.Ile344=)
c.1065C>T (p.Ile355=)
c.1083C>T (p.Ile361=)
2g.127428649_127428651delCA2586969917PROCc.1089_1091del (p.Ile363_Lys364delinsMet)
c.413_415del
c.1191_1193del (p.Ile397_Lys398delinsMet)
c.1272_1274del (p.Ile424_Lys425delinsMet)
c.1254_1256del (p.Ile418_Lys419delinsMet)
c.1152_1154del (p.Ile384_Lys385delinsMet)
n.1332-387_1332-385del
c.1332_1334del (p.Ile444_Lys445delinsMet)
c.1434_1436del (p.Ile478_Lys479delinsMet)
c.1374_1376del (p.Ile458_Lys459delinsMet)
n.3607-387_3607-385del
n.4043-387_4043-385del
c.1257_1259del (p.Ile419_Lys420delinsMet)
c.1275_1277del (p.Ile425_Lys426delinsMet)
c.1032_1034del (p.Ile344_Lys345delinsMet)
c.1065_1067del (p.Ile355_Lys356delinsMet)
c.1083_1085del (p.Ile361_Lys362delinsMet)
2g.127428650A>CCA348405749PROCc.1090A>C (p.Lys364Gln)
c.414A>C
c.1192A>C (p.Lys398Gln)
c.1273A>C (p.Lys425Gln)
c.1255A>C (p.Lys419Gln)
c.1153A>C (p.Lys385Gln)
n.1332-386T>G
c.1333A>C (p.Lys445Gln)
c.1435A>C (p.Lys479Gln)
c.1375A>C (p.Lys459Gln)
n.3607-386T>G
n.4043-386T>G
c.1258A>C (p.Lys420Gln)
c.1276A>C (p.Lys426Gln)
c.1033A>C (p.Lys345Gln)
c.1066A>C (p.Lys356Gln)
c.1084A>C (p.Lys362Gln)
2g.127428650A>GCA348405750PROCc.1090A>G (p.Lys364Glu)
c.414A>G
c.1192A>G (p.Lys398Glu)
c.1273A>G (p.Lys425Glu)
c.1255A>G (p.Lys419Glu)
c.1153A>G (p.Lys385Glu)
n.1332-386T>C
c.1333A>G (p.Lys445Glu)
c.1435A>G (p.Lys479Glu)
c.1375A>G (p.Lys459Glu)
n.3607-386T>C
n.4043-386T>C
c.1258A>G (p.Lys420Glu)
c.1276A>G (p.Lys426Glu)
c.1033A>G (p.Lys345Glu)
c.1066A>G (p.Lys356Glu)
c.1084A>G (p.Lys362Glu)
2g.127428650A>TCA348405751PROCc.1090A>T (p.Lys364Ter)
c.414A>T
c.1192A>T (p.Lys398Ter)
c.1273A>T (p.Lys425Ter)
c.1255A>T (p.Lys419Ter)
c.1153A>T (p.Lys385Ter)
n.1332-386T>A
c.1333A>T (p.Lys445Ter)
c.1435A>T (p.Lys479Ter)
c.1375A>T (p.Lys459Ter)
n.3607-386T>A
n.4043-386T>A
c.1258A>T (p.Lys420Ter)
c.1276A>T (p.Lys426Ter)
c.1033A>T (p.Lys345Ter)
c.1066A>T (p.Lys356Ter)
c.1084A>T (p.Lys362Ter)
2g.127428651A=CA1286884566PROCc.1091A= (p.Lys364=)
c.415A=
c.1193A= (p.Lys398=)
c.1274A= (p.Lys425=)
c.1256A= (p.Lys419=)
c.1154A= (p.Lys385=)
n.1332-387T=
c.1334A= (p.Lys445=)
c.1436A= (p.Lys479=)
c.1376A= (p.Lys459=)
n.3607-387T=
n.4043-387T=
c.1259A= (p.Lys420=)
c.1277A= (p.Lys426=)
c.1034A= (p.Lys345=)
c.1067A= (p.Lys356=)
c.1085A= (p.Lys362=)
2g.127428651A>CCA348405754PROCc.1091A>C (p.Lys364Thr)
c.415A>C
c.1193A>C (p.Lys398Thr)
c.1274A>C (p.Lys425Thr)
c.1256A>C (p.Lys419Thr)
c.1154A>C (p.Lys385Thr)
n.1332-387T>G
c.1334A>C (p.Lys445Thr)
c.1436A>C (p.Lys479Thr)
c.1376A>C (p.Lys459Thr)
n.3607-387T>G
n.4043-387T>G
c.1259A>C (p.Lys420Thr)
c.1277A>C (p.Lys426Thr)
c.1034A>C (p.Lys345Thr)
c.1067A>C (p.Lys356Thr)
c.1085A>C (p.Lys362Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.127428651A>GCA348405755PROCc.1091A>G (p.Lys364Arg)
c.415A>G
c.1193A>G (p.Lys398Arg)
c.1274A>G (p.Lys425Arg)
c.1256A>G (p.Lys419Arg)
c.1154A>G (p.Lys385Arg)
n.1332-387T>C
c.1334A>G (p.Lys445Arg)
c.1436A>G (p.Lys479Arg)
c.1376A>G (p.Lys459Arg)
n.3607-387T>C
n.4043-387T>C
c.1259A>G (p.Lys420Arg)
c.1277A>G (p.Lys426Arg)
c.1034A>G (p.Lys345Arg)
c.1067A>G (p.Lys356Arg)
c.1085A>G (p.Lys362Arg)
 gnomAD v4
2g.127428651A>TCA348405756PROCc.1091A>T (p.Lys364Met)
c.415A>T
c.1193A>T (p.Lys398Met)
c.1274A>T (p.Lys425Met)
c.1256A>T (p.Lys419Met)
c.1154A>T (p.Lys385Met)
n.1332-387T>A
c.1334A>T (p.Lys445Met)
c.1436A>T (p.Lys479Met)
c.1376A>T (p.Lys459Met)
n.3607-387T>A
n.4043-387T>A
c.1259A>T (p.Lys420Met)
c.1277A>T (p.Lys426Met)
c.1034A>T (p.Lys345Met)
c.1067A>T (p.Lys356Met)
c.1085A>T (p.Lys362Met)
2g.127428652G>ACA428873036PROCc.1092G>A (p.Lys364=)
c.416G>A
c.1194G>A (p.Lys398=)
c.1275G>A (p.Lys425=)
c.1257G>A (p.Lys419=)
c.1155G>A (p.Lys385=)
n.1332-388C>T
c.1335G>A (p.Lys445=)
c.1437G>A (p.Lys479=)
c.1377G>A (p.Lys459=)
n.3607-388C>T
n.4043-388C>T
c.1260G>A (p.Lys420=)
c.1278G>A (p.Lys426=)
c.1035G>A (p.Lys345=)
c.1068G>A (p.Lys356=)
c.1086G>A (p.Lys362=)
2g.127428652G>CCA348405758PROCc.1092G>C (p.Lys364Asn)
c.416G>C
c.1194G>C (p.Lys398Asn)
c.1275G>C (p.Lys425Asn)
c.1257G>C (p.Lys419Asn)
c.1155G>C (p.Lys385Asn)
n.1332-388C>G
c.1335G>C (p.Lys445Asn)
c.1437G>C (p.Lys479Asn)
c.1377G>C (p.Lys459Asn)
n.3607-388C>G
n.4043-388C>G
c.1260G>C (p.Lys420Asn)
c.1278G>C (p.Lys426Asn)
c.1035G>C (p.Lys345Asn)
c.1068G>C (p.Lys356Asn)
c.1086G>C (p.Lys362Asn)
2g.127428652G>TCA348405760PROCc.1092G>T (p.Lys364Asn)
c.416G>T
c.1194G>T (p.Lys398Asn)
c.1275G>T (p.Lys425Asn)
c.1257G>T (p.Lys419Asn)
c.1155G>T (p.Lys385Asn)
n.1332-388C>A
c.1335G>T (p.Lys445Asn)
c.1437G>T (p.Lys479Asn)
c.1377G>T (p.Lys459Asn)
n.3607-388C>A
n.4043-388C>A
c.1260G>T (p.Lys420Asn)
c.1278G>T (p.Lys426Asn)
c.1035G>T (p.Lys345Asn)
c.1068G>T (p.Lys356Asn)
c.1086G>T (p.Lys362Asn)
2g.127428653A>CCA348405762PROCc.1093A>C (p.Ile365Leu)
c.417A>C
c.1195A>C (p.Ile399Leu)
c.1276A>C (p.Ile426Leu)
c.1258A>C (p.Ile420Leu)
c.1156A>C (p.Ile386Leu)
n.1332-389T>G
c.1336A>C (p.Ile446Leu)
c.1438A>C (p.Ile480Leu)
c.1378A>C (p.Ile460Leu)
n.3607-389T>G
n.4043-389T>G
c.1261A>C (p.Ile421Leu)
c.1279A>C (p.Ile427Leu)
c.1036A>C (p.Ile346Leu)
c.1069A>C (p.Ile357Leu)
c.1087A>C (p.Ile363Leu)
2g.127428653A>GCA348405763PROCc.1093A>G (p.Ile365Val)
c.417A>G
c.1195A>G (p.Ile399Val)
c.1276A>G (p.Ile426Val)
c.1258A>G (p.Ile420Val)
c.1156A>G (p.Ile386Val)
n.1332-389T>C
c.1336A>G (p.Ile446Val)
c.1438A>G (p.Ile480Val)
c.1378A>G (p.Ile460Val)
n.3607-389T>C
n.4043-389T>C
c.1261A>G (p.Ile421Val)
c.1279A>G (p.Ile427Val)
c.1036A>G (p.Ile346Val)
c.1069A>G (p.Ile357Val)
c.1087A>G (p.Ile363Val)
2g.127428653A>TCA348405765PROCc.1093A>T (p.Ile365Phe)
c.417A>T
c.1195A>T (p.Ile399Phe)
c.1276A>T (p.Ile426Phe)
c.1258A>T (p.Ile420Phe)
c.1156A>T (p.Ile386Phe)
n.1332-389T>A
c.1336A>T (p.Ile446Phe)
c.1438A>T (p.Ile480Phe)
c.1378A>T (p.Ile460Phe)
n.3607-389T>A
n.4043-389T>A
c.1261A>T (p.Ile421Phe)
c.1279A>T (p.Ile427Phe)
c.1036A>T (p.Ile346Phe)
c.1069A>T (p.Ile357Phe)
c.1087A>T (p.Ile363Phe)
2g.127428654T>ACA348405771PROCc.1094T>A (p.Ile365Asn)
c.418T>A
c.1196T>A (p.Ile399Asn)
c.1277T>A (p.Ile426Asn)
c.1259T>A (p.Ile420Asn)
c.1157T>A (p.Ile386Asn)
n.1332-390A>T
c.1337T>A (p.Ile446Asn)
c.1439T>A (p.Ile480Asn)
c.1379T>A (p.Ile460Asn)
n.3607-390A>T
n.4043-390A>T
c.1262T>A (p.Ile421Asn)
c.1280T>A (p.Ile427Asn)
c.1037T>A (p.Ile346Asn)
c.1070T>A (p.Ile357Asn)
c.1088T>A (p.Ile363Asn)
2g.127428654T>CCA348405768PROCc.1094T>C (p.Ile365Thr)
c.418T>C
c.1196T>C (p.Ile399Thr)
c.1277T>C (p.Ile426Thr)
c.1259T>C (p.Ile420Thr)
c.1157T>C (p.Ile386Thr)
n.1332-390A>G
c.1337T>C (p.Ile446Thr)
c.1439T>C (p.Ile480Thr)
c.1379T>C (p.Ile460Thr)
n.3607-390A>G
n.4043-390A>G
c.1262T>C (p.Ile421Thr)
c.1280T>C (p.Ile427Thr)
c.1037T>C (p.Ile346Thr)
c.1070T>C (p.Ile357Thr)
c.1088T>C (p.Ile363Thr)
2g.127428654T>GCA348405767PROCc.1094T>G (p.Ile365Ser)
c.418T>G
c.1196T>G (p.Ile399Ser)
c.1277T>G (p.Ile426Ser)
c.1259T>G (p.Ile420Ser)
c.1157T>G (p.Ile386Ser)
n.1332-390A>C
c.1337T>G (p.Ile446Ser)
c.1439T>G (p.Ile480Ser)
c.1379T>G (p.Ile460Ser)
n.3607-390A>C
n.4043-390A>C
c.1262T>G (p.Ile421Ser)
c.1280T>G (p.Ile427Ser)
c.1037T>G (p.Ile346Ser)
c.1070T>G (p.Ile357Ser)
c.1088T>G (p.Ile363Ser)
2g.127428655T>ACA428873043PROCc.1095T>A (p.Ile365=)
c.419T>A
c.1197T>A (p.Ile399=)
c.1278T>A (p.Ile426=)
c.1260T>A (p.Ile420=)
c.1158T>A (p.Ile386=)
n.1332-391A>T
c.1338T>A (p.Ile446=)
c.1440T>A (p.Ile480=)
c.1380T>A (p.Ile460=)
n.3607-391A>T
n.4043-391A>T
c.1263T>A (p.Ile421=)
c.1281T>A (p.Ile427=)
c.1038T>A (p.Ile346=)
c.1071T>A (p.Ile357=)
c.1089T>A (p.Ile363=)
2g.127428655T>CCA428873045PROCc.1095T>C (p.Ile365=)
c.419T>C
c.1197T>C (p.Ile399=)
c.1278T>C (p.Ile426=)
c.1260T>C (p.Ile420=)
c.1158T>C (p.Ile386=)
n.1332-391A>G
c.1338T>C (p.Ile446=)
c.1440T>C (p.Ile480=)
c.1380T>C (p.Ile460=)
n.3607-391A>G
n.4043-391A>G
c.1263T>C (p.Ile421=)
c.1281T>C (p.Ile427=)
c.1038T>C (p.Ile346=)
c.1071T>C (p.Ile357=)
c.1089T>C (p.Ile363=)
2g.127428655T>GCA348405773PROCc.1095T>G (p.Ile365Met)
c.419T>G
c.1197T>G (p.Ile399Met)
c.1278T>G (p.Ile426Met)
c.1260T>G (p.Ile420Met)
c.1158T>G (p.Ile386Met)
n.1332-391A>C
c.1338T>G (p.Ile446Met)
c.1440T>G (p.Ile480Met)
c.1380T>G (p.Ile460Met)
n.3607-391A>C
n.4043-391A>C
c.1263T>G (p.Ile421Met)
c.1281T>G (p.Ile427Met)
c.1038T>G (p.Ile346Met)
c.1071T>G (p.Ile357Met)
c.1089T>G (p.Ile363Met)
2g.127428656C>ACA348405775PROCc.1096C>A (p.Pro366Thr)
c.420C>A
c.1198C>A (p.Pro400Thr)
c.1279C>A (p.Pro427Thr)
c.1261C>A (p.Pro421Thr)
c.1159C>A (p.Pro387Thr)
n.1332-392G>T
c.1339C>A (p.Pro447Thr)
c.1441C>A (p.Pro481Thr)
c.1381C>A (p.Pro461Thr)
n.3607-392G>T
n.4043-392G>T
c.1264C>A (p.Pro422Thr)
c.1282C>A (p.Pro428Thr)
c.1039C>A (p.Pro347Thr)
c.1072C>A (p.Pro358Thr)
c.1090C>A (p.Pro364Thr)
 dbSNP
2g.127428656C=CA1286884567PROCc.1096C= (p.Pro366=)
c.420C=
c.1198C= (p.Pro400=)
c.1279C= (p.Pro427=)
c.1261C= (p.Pro421=)
c.1159C= (p.Pro387=)
n.1332-392G=
c.1339C= (p.Pro447=)
c.1441C= (p.Pro481=)
c.1381C= (p.Pro461=)
n.3607-392G=
n.4043-392G=
c.1264C= (p.Pro422=)
c.1282C= (p.Pro428=)
c.1039C= (p.Pro347=)
c.1072C= (p.Pro358=)
c.1090C= (p.Pro364=)
2g.127428656C>GCA348405777PROCc.1096C>G (p.Pro366Ala)
c.420C>G
c.1198C>G (p.Pro400Ala)
c.1279C>G (p.Pro427Ala)
c.1261C>G (p.Pro421Ala)
c.1159C>G (p.Pro387Ala)
n.1332-392G>C
c.1339C>G (p.Pro447Ala)
c.1441C>G (p.Pro481Ala)
c.1381C>G (p.Pro461Ala)
n.3607-392G>C
n.4043-392G>C
c.1264C>G (p.Pro422Ala)
c.1282C>G (p.Pro428Ala)
c.1039C>G (p.Pro347Ala)
c.1072C>G (p.Pro358Ala)
c.1090C>G (p.Pro364Ala)
2g.127428656C>TCA348405778PROCc.1096C>T (p.Pro366Ser)
c.420C>T
c.1198C>T (p.Pro400Ser)
c.1279C>T (p.Pro427Ser)
c.1261C>T (p.Pro421Ser)
c.1159C>T (p.Pro387Ser)
n.1332-392G>A
c.1339C>T (p.Pro447Ser)
c.1441C>T (p.Pro481Ser)
c.1381C>T (p.Pro461Ser)
n.3607-392G>A
n.4043-392G>A
c.1264C>T (p.Pro422Ser)
c.1282C>T (p.Pro428Ser)
c.1039C>T (p.Pro347Ser)
c.1072C>T (p.Pro358Ser)
c.1090C>T (p.Pro364Ser)
 gnomAD v4
2g.127428657C>ACA348405781PROCc.1097C>A (p.Pro366His)
c.421C>A
c.1199C>A (p.Pro400His)
c.1280C>A (p.Pro427His)
c.1262C>A (p.Pro421His)
c.1160C>A (p.Pro387His)
n.1332-393G>T
c.1340C>A (p.Pro447His)
c.1442C>A (p.Pro481His)
c.1382C>A (p.Pro461His)
n.3607-393G>T
n.4043-393G>T
c.1265C>A (p.Pro422His)
c.1283C>A (p.Pro428His)
c.1040C>A (p.Pro347His)
c.1073C>A (p.Pro358His)
c.1091C>A (p.Pro364His)
2g.127428657C=CA1286884568PROCc.1097C= (p.Pro366=)
c.421C=
c.1199C= (p.Pro400=)
c.1280C= (p.Pro427=)
c.1262C= (p.Pro421=)
c.1160C= (p.Pro387=)
n.1332-393G=
c.1340C= (p.Pro447=)
c.1442C= (p.Pro481=)
c.1382C= (p.Pro461=)
n.3607-393G=
n.4043-393G=
c.1265C= (p.Pro422=)
c.1283C= (p.Pro428=)
c.1040C= (p.Pro347=)
c.1073C= (p.Pro358=)
c.1091C= (p.Pro364=)
2g.127428657C>GCA348405783PROCc.1097C>G (p.Pro366Arg)
c.421C>G
c.1199C>G (p.Pro400Arg)
c.1280C>G (p.Pro427Arg)
c.1262C>G (p.Pro421Arg)
c.1160C>G (p.Pro387Arg)
n.1332-393G>C
c.1340C>G (p.Pro447Arg)
c.1442C>G (p.Pro481Arg)
c.1382C>G (p.Pro461Arg)
n.3607-393G>C
n.4043-393G>C
c.1265C>G (p.Pro422Arg)
c.1283C>G (p.Pro428Arg)
c.1040C>G (p.Pro347Arg)
c.1073C>G (p.Pro358Arg)
c.1091C>G (p.Pro364Arg)
2g.127428657C>TCA348405784PROCc.1097C>T (p.Pro366Leu)
c.421C>T
c.1199C>T (p.Pro400Leu)
c.1280C>T (p.Pro427Leu)
c.1262C>T (p.Pro421Leu)
c.1160C>T (p.Pro387Leu)
n.1332-393G>A
c.1340C>T (p.Pro447Leu)
c.1442C>T (p.Pro481Leu)
c.1382C>T (p.Pro461Leu)
n.3607-393G>A
n.4043-393G>A
c.1265C>T (p.Pro422Leu)
c.1283C>T (p.Pro428Leu)
c.1040C>T (p.Pro347Leu)
c.1073C>T (p.Pro358Leu)
c.1091C>T (p.Pro364Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.127428658C>ACA428873052PROCc.1098C>A (p.Pro366=)
c.422C>A
c.1200C>A (p.Pro400=)
c.1281C>A (p.Pro427=)
c.1263C>A (p.Pro421=)
c.1161C>A (p.Pro387=)
n.1332-394G>T
c.1341C>A (p.Pro447=)
c.1443C>A (p.Pro481=)
c.1383C>A (p.Pro461=)
n.3607-394G>T
n.4043-394G>T
c.1266C>A (p.Pro422=)
c.1284C>A (p.Pro428=)
c.1041C>A (p.Pro347=)
c.1074C>A (p.Pro358=)
c.1092C>A (p.Pro364=)
2g.127428658C=CA1286884569PROCc.1098C= (p.Pro366=)
c.422C=
c.1200C= (p.Pro400=)
c.1281C= (p.Pro427=)
c.1263C= (p.Pro421=)
c.1161C= (p.Pro387=)
n.1332-394G=
c.1341C= (p.Pro447=)
c.1443C= (p.Pro481=)
c.1383C= (p.Pro461=)
n.3607-394G=
n.4043-394G=
c.1266C= (p.Pro422=)
c.1284C= (p.Pro428=)
c.1041C= (p.Pro347=)
c.1074C= (p.Pro358=)
c.1092C= (p.Pro364=)
2g.127428658C>GCA428873056PROCc.1098C>G (p.Pro366=)
c.422C>G
c.1200C>G (p.Pro400=)
c.1281C>G (p.Pro427=)
c.1263C>G (p.Pro421=)
c.1161C>G (p.Pro387=)
n.1332-394G>C
c.1341C>G (p.Pro447=)
c.1443C>G (p.Pro481=)
c.1383C>G (p.Pro461=)
n.3607-394G>C
n.4043-394G>C
c.1266C>G (p.Pro422=)
c.1284C>G (p.Pro428=)
c.1041C>G (p.Pro347=)
c.1074C>G (p.Pro358=)
c.1092C>G (p.Pro364=)
2g.127428658C>TCA1859521PROCc.1098C>T (p.Pro366=)
c.422C>T
c.1200C>T (p.Pro400=)
c.1281C>T (p.Pro427=)
c.1263C>T (p.Pro421=)
c.1161C>T (p.Pro387=)
n.1332-394G>A
c.1341C>T (p.Pro447=)
c.1443C>T (p.Pro481=)
c.1383C>T (p.Pro461=)
n.3607-394G>A
n.4043-394G>A
c.1266C>T (p.Pro422=)
c.1284C>T (p.Pro428=)
c.1041C>T (p.Pro347=)
c.1074C>T (p.Pro358=)
c.1092C>T (p.Pro364=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428659G>ACA1859522PROCc.1099G>A (p.Val367Met)
c.423G>A
c.1201G>A (p.Val401Met)
c.1282G>A (p.Val428Met)
c.1264G>A (p.Val422Met)
c.1162G>A (p.Val388Met)
n.1332-395C>T
c.1342G>A (p.Val448Met)
c.1444G>A (p.Val482Met)
c.1384G>A (p.Val462Met)
n.3607-395C>T
n.4043-395C>T
c.1267G>A (p.Val423Met)
c.1285G>A (p.Val429Met)
c.1042G>A (p.Val348Met)
c.1075G>A (p.Val359Met)
c.1093G>A (p.Val365Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428659G>CCA348405789PROCc.1099G>C (p.Val367Leu)
c.423G>C
c.1201G>C (p.Val401Leu)
c.1282G>C (p.Val428Leu)
c.1264G>C (p.Val422Leu)
c.1162G>C (p.Val388Leu)
n.1332-395C>G
c.1342G>C (p.Val448Leu)
c.1444G>C (p.Val482Leu)
c.1384G>C (p.Val462Leu)
n.3607-395C>G
n.4043-395C>G
c.1267G>C (p.Val423Leu)
c.1285G>C (p.Val429Leu)
c.1042G>C (p.Val348Leu)
c.1075G>C (p.Val359Leu)
c.1093G>C (p.Val365Leu)
2g.127428659G=CA1286884570PROCc.1099G= (p.Val367=)
c.423G=
c.1201G= (p.Val401=)
c.1282G= (p.Val428=)
c.1264G= (p.Val422=)
c.1162G= (p.Val388=)
n.1332-395C=
c.1342G= (p.Val448=)
c.1444G= (p.Val482=)
c.1384G= (p.Val462=)
n.3607-395C=
n.4043-395C=
c.1267G= (p.Val423=)
c.1285G= (p.Val429=)
c.1042G= (p.Val348=)
c.1075G= (p.Val359=)
c.1093G= (p.Val365=)
2g.127428659G>TCA348405791PROCc.1099G>T (p.Val367Leu)
c.423G>T
c.1201G>T (p.Val401Leu)
c.1282G>T (p.Val428Leu)
c.1264G>T (p.Val422Leu)
c.1162G>T (p.Val388Leu)
n.1332-395C>A
c.1342G>T (p.Val448Leu)
c.1444G>T (p.Val482Leu)
c.1384G>T (p.Val462Leu)
n.3607-395C>A
n.4043-395C>A
c.1267G>T (p.Val423Leu)
c.1285G>T (p.Val429Leu)
c.1042G>T (p.Val348Leu)
c.1075G>T (p.Val359Leu)
c.1093G>T (p.Val365Leu)
2g.127428660T>ACA348405796PROCc.1100T>A (p.Val367Glu)
c.424T>A
c.1202T>A (p.Val401Glu)
c.1283T>A (p.Val428Glu)
c.1265T>A (p.Val422Glu)
c.1163T>A (p.Val388Glu)
n.1332-396A>T
c.1343T>A (p.Val448Glu)
c.1445T>A (p.Val482Glu)
c.1385T>A (p.Val462Glu)
n.3607-396A>T
n.4043-396A>T
c.1268T>A (p.Val423Glu)
c.1286T>A (p.Val429Glu)
c.1043T>A (p.Val348Glu)
c.1076T>A (p.Val359Glu)
c.1094T>A (p.Val365Glu)
2g.127428660T>CCA1859523PROCc.1100T>C (p.Val367Ala)
c.424T>C
c.1202T>C (p.Val401Ala)
c.1283T>C (p.Val428Ala)
c.1265T>C (p.Val422Ala)
c.1163T>C (p.Val388Ala)
n.1332-396A>G
c.1343T>C (p.Val448Ala)
c.1445T>C (p.Val482Ala)
c.1385T>C (p.Val462Ala)
n.3607-396A>G
n.4043-396A>G
c.1268T>C (p.Val423Ala)
c.1286T>C (p.Val429Ala)
c.1043T>C (p.Val348Ala)
c.1076T>C (p.Val359Ala)
c.1094T>C (p.Val365Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428660T>GCA348405793PROCc.1100T>G (p.Val367Gly)
c.424T>G
c.1202T>G (p.Val401Gly)
c.1283T>G (p.Val428Gly)
c.1265T>G (p.Val422Gly)
c.1163T>G (p.Val388Gly)
n.1332-396A>C
c.1343T>G (p.Val448Gly)
c.1445T>G (p.Val482Gly)
c.1385T>G (p.Val462Gly)
n.3607-396A>C
n.4043-396A>C
c.1268T>G (p.Val423Gly)
c.1286T>G (p.Val429Gly)
c.1043T>G (p.Val348Gly)
c.1076T>G (p.Val359Gly)
c.1094T>G (p.Val365Gly)
2g.127428660T=CA1286884571PROCc.1100T= (p.Val367=)
c.424T=
c.1202T= (p.Val401=)
c.1283T= (p.Val428=)
c.1265T= (p.Val422=)
c.1163T= (p.Val388=)
n.1332-396A=
c.1343T= (p.Val448=)
c.1445T= (p.Val482=)
c.1385T= (p.Val462=)
n.3607-396A=
n.4043-396A=
c.1268T= (p.Val423=)
c.1286T= (p.Val429=)
c.1043T= (p.Val348=)
c.1076T= (p.Val359=)
c.1094T= (p.Val365=)
2g.127428661G>ACA428873068PROCc.1101G>A (p.Val367=)
c.425G>A
c.1203G>A (p.Val401=)
c.1284G>A (p.Val428=)
c.1266G>A (p.Val422=)
c.1164G>A (p.Val388=)
n.1332-397C>T
c.1344G>A (p.Val448=)
c.1446G>A (p.Val482=)
c.1386G>A (p.Val462=)
n.3607-397C>T
n.4043-397C>T
c.1269G>A (p.Val423=)
c.1287G>A (p.Val429=)
c.1044G>A (p.Val348=)
c.1077G>A (p.Val359=)
c.1095G>A (p.Val365=)
 dbSNP gnomAD v3 gnomAD v4
2g.127428661G>CCA428873070PROCc.1101G>C (p.Val367=)
c.425G>C
c.1203G>C (p.Val401=)
c.1284G>C (p.Val428=)
c.1266G>C (p.Val422=)
c.1164G>C (p.Val388=)
n.1332-397C>G
c.1344G>C (p.Val448=)
c.1446G>C (p.Val482=)
c.1386G>C (p.Val462=)
n.3607-397C>G
n.4043-397C>G
c.1269G>C (p.Val423=)
c.1287G>C (p.Val429=)
c.1044G>C (p.Val348=)
c.1077G>C (p.Val359=)
c.1095G>C (p.Val365=)
2g.127428661G=CA1286884572PROCc.1101G= (p.Val367=)
c.425G=
c.1203G= (p.Val401=)
c.1284G= (p.Val428=)
c.1266G= (p.Val422=)
c.1164G= (p.Val388=)
n.1332-397C=
c.1344G= (p.Val448=)
c.1446G= (p.Val482=)
c.1386G= (p.Val462=)
n.3607-397C=
n.4043-397C=
c.1269G= (p.Val423=)
c.1287G= (p.Val429=)
c.1044G= (p.Val348=)
c.1077G= (p.Val359=)
c.1095G= (p.Val365=)
2g.127428661G>TCA428873069PROCc.1101G>T (p.Val367=)
c.425G>T
c.1203G>T (p.Val401=)
c.1284G>T (p.Val428=)
c.1266G>T (p.Val422=)
c.1164G>T (p.Val388=)
n.1332-397C>A
c.1344G>T (p.Val448=)
c.1446G>T (p.Val482=)
c.1386G>T (p.Val462=)
n.3607-397C>A
n.4043-397C>A
c.1269G>T (p.Val423=)
c.1287G>T (p.Val429=)
c.1044G>T (p.Val348=)
c.1077G>T (p.Val359=)
c.1095G>T (p.Val365=)
2g.127428661_127428664delCA2586969918PROCc.1101_1104del (p.Val368ArgfsTer9)
c.425_428del
c.1203_1206del (p.Val402ArgfsTer9)
c.1284_1287del (p.Val429ArgfsTer9)
c.1266_1269del (p.Val423ArgfsTer9)
c.1164_1167del (p.Val389ArgfsTer9)
n.1332-400_1332-397del
c.1344_1347del (p.Val449ArgfsTer9)
c.1446_1449del (p.Val483ArgfsTer9)
c.1386_1389del (p.Val463ArgfsTer9)
n.3607-400_3607-397del
n.4043-400_4043-397del
c.1269_1272del (p.Val424ArgfsTer9)
c.1287_1290del (p.Val430ArgfsTer9)
c.1044_1047del (p.Val349ArgfsTer9)
c.1077_1080del (p.Val360ArgfsTer9)
c.1095_1098del (p.Val366ArgfsTer9)
2g.127428662G>ACA1859524PROCc.1102G>A (p.Val368Ile)
c.426G>A
c.1204G>A (p.Val402Ile)
c.1285G>A (p.Val429Ile)
c.1267G>A (p.Val423Ile)
c.1165G>A (p.Val389Ile)
n.1332-398C>T
c.1345G>A (p.Val449Ile)
c.1447G>A (p.Val483Ile)
c.1387G>A (p.Val463Ile)
n.3607-398C>T
n.4043-398C>T
c.1270G>A (p.Val424Ile)
c.1288G>A (p.Val430Ile)
c.1045G>A (p.Val349Ile)
c.1078G>A (p.Val360Ile)
c.1096G>A (p.Val366Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428662G>CCA348405800PROCc.1102G>C (p.Val368Leu)
c.426G>C
c.1204G>C (p.Val402Leu)
c.1285G>C (p.Val429Leu)
c.1267G>C (p.Val423Leu)
c.1165G>C (p.Val389Leu)
n.1332-398C>G
c.1345G>C (p.Val449Leu)
c.1447G>C (p.Val483Leu)
c.1387G>C (p.Val463Leu)
n.3607-398C>G
n.4043-398C>G
c.1270G>C (p.Val424Leu)
c.1288G>C (p.Val430Leu)
c.1045G>C (p.Val349Leu)
c.1078G>C (p.Val360Leu)
c.1096G>C (p.Val366Leu)
2g.127428662G=CA1286884573PROCc.1102G= (p.Val368=)
c.426G=
c.1204G= (p.Val402=)
c.1285G= (p.Val429=)
c.1267G= (p.Val423=)
c.1165G= (p.Val389=)
n.1332-398C=
c.1345G= (p.Val449=)
c.1447G= (p.Val483=)
c.1387G= (p.Val463=)
n.3607-398C=
n.4043-398C=
c.1270G= (p.Val424=)
c.1288G= (p.Val430=)
c.1045G= (p.Val349=)
c.1078G= (p.Val360=)
c.1096G= (p.Val366=)
2g.127428662G>TCA348405801PROCc.1102G>T (p.Val368Phe)
c.426G>T
c.1204G>T (p.Val402Phe)
c.1285G>T (p.Val429Phe)
c.1267G>T (p.Val423Phe)
c.1165G>T (p.Val389Phe)
n.1332-398C>A
c.1345G>T (p.Val449Phe)
c.1447G>T (p.Val483Phe)
c.1387G>T (p.Val463Phe)
n.3607-398C>A
n.4043-398C>A
c.1270G>T (p.Val424Phe)
c.1288G>T (p.Val430Phe)
c.1045G>T (p.Val349Phe)
c.1078G>T (p.Val360Phe)
c.1096G>T (p.Val366Phe)
 gnomAD v4
2g.127428663T>ACA348405803PROCc.1103T>A (p.Val368Asp)
c.427T>A
c.1205T>A (p.Val402Asp)
c.1286T>A (p.Val429Asp)
c.1268T>A (p.Val423Asp)
c.1166T>A (p.Val389Asp)
n.1332-399A>T
c.1346T>A (p.Val449Asp)
c.1448T>A (p.Val483Asp)
c.1388T>A (p.Val463Asp)
n.3607-399A>T
n.4043-399A>T
c.1271T>A (p.Val424Asp)
c.1289T>A (p.Val430Asp)
c.1046T>A (p.Val349Asp)
c.1079T>A (p.Val360Asp)
c.1097T>A (p.Val366Asp)
2g.127428663T>CCA348405805PROCc.1103T>C (p.Val368Ala)
c.427T>C
c.1205T>C (p.Val402Ala)
c.1286T>C (p.Val429Ala)
c.1268T>C (p.Val423Ala)
c.1166T>C (p.Val389Ala)
n.1332-399A>G
c.1346T>C (p.Val449Ala)
c.1448T>C (p.Val483Ala)
c.1388T>C (p.Val463Ala)
n.3607-399A>G
n.4043-399A>G
c.1271T>C (p.Val424Ala)
c.1289T>C (p.Val430Ala)
c.1046T>C (p.Val349Ala)
c.1079T>C (p.Val360Ala)
c.1097T>C (p.Val366Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.127428663T>GCA348405807PROCc.1103T>G (p.Val368Gly)
c.427T>G
c.1205T>G (p.Val402Gly)
c.1286T>G (p.Val429Gly)
c.1268T>G (p.Val423Gly)
c.1166T>G (p.Val389Gly)
n.1332-399A>C
c.1346T>G (p.Val449Gly)
c.1448T>G (p.Val483Gly)
c.1388T>G (p.Val463Gly)
n.3607-399A>C
n.4043-399A>C
c.1271T>G (p.Val424Gly)
c.1289T>G (p.Val430Gly)
c.1046T>G (p.Val349Gly)
c.1079T>G (p.Val360Gly)
c.1097T>G (p.Val366Gly)
2g.127428663T=CA1286884574PROCc.1103T= (p.Val368=)
c.427T=
c.1205T= (p.Val402=)
c.1286T= (p.Val429=)
c.1268T= (p.Val423=)
c.1166T= (p.Val389=)
n.1332-399A=
c.1346T= (p.Val449=)
c.1448T= (p.Val483=)
c.1388T= (p.Val463=)
n.3607-399A=
n.4043-399A=
c.1271T= (p.Val424=)
c.1289T= (p.Val430=)
c.1046T= (p.Val349=)
c.1079T= (p.Val360=)
c.1097T= (p.Val366=)
2g.127428664C>ACA428873073PROCc.1104C>A (p.Val368=)
c.428C>A
c.1206C>A (p.Val402=)
c.1287C>A (p.Val429=)
c.1269C>A (p.Val423=)
c.1167C>A (p.Val389=)
n.1332-400G>T
c.1347C>A (p.Val449=)
c.1449C>A (p.Val483=)
c.1389C>A (p.Val463=)
n.3607-400G>T
n.4043-400G>T
c.1272C>A (p.Val424=)
c.1290C>A (p.Val430=)
c.1047C>A (p.Val349=)
c.1080C>A (p.Val360=)
c.1098C>A (p.Val366=)
 gnomAD v4
2g.127428664C>GCA428873075PROCc.1104C>G (p.Val368=)
c.428C>G
c.1206C>G (p.Val402=)
c.1287C>G (p.Val429=)
c.1269C>G (p.Val423=)
c.1167C>G (p.Val389=)
n.1332-400G>C
c.1347C>G (p.Val449=)
c.1449C>G (p.Val483=)
c.1389C>G (p.Val463=)
n.3607-400G>C
n.4043-400G>C
c.1272C>G (p.Val424=)
c.1290C>G (p.Val430=)
c.1047C>G (p.Val349=)
c.1080C>G (p.Val360=)
c.1098C>G (p.Val366=)
2g.127428664C>TCA428873077PROCc.1104C>T (p.Val368=)
c.428C>T
c.1206C>T (p.Val402=)
c.1287C>T (p.Val429=)
c.1269C>T (p.Val423=)
c.1167C>T (p.Val389=)
n.1332-400G>A
c.1347C>T (p.Val449=)
c.1449C>T (p.Val483=)
c.1389C>T (p.Val463=)
n.3607-400G>A
n.4043-400G>A
c.1272C>T (p.Val424=)
c.1290C>T (p.Val430=)
c.1047C>T (p.Val349=)
c.1080C>T (p.Val360=)
c.1098C>T (p.Val366=)
2g.127428666delCA2586969919PROCc.1106del (p.Pro369ArgfsTer9)
c.430del
c.1208del (p.Pro403ArgfsTer9)
c.1289del (p.Pro430ArgfsTer9)
c.1271del (p.Pro424ArgfsTer9)
c.1169del (p.Pro390ArgfsTer9)
n.1332-400del
c.1349del (p.Pro450ArgfsTer9)
c.1451del (p.Pro484ArgfsTer9)
c.1391del (p.Pro464ArgfsTer9)
n.3607-400del
n.4043-400del
c.1274del (p.Pro425ArgfsTer9)
c.1292del (p.Pro431ArgfsTer9)
c.1049del (p.Pro350ArgfsTer9)
c.1082del (p.Pro361ArgfsTer9)
c.1100del (p.Pro367ArgfsTer9)
2g.127428665C>ACA348405809PROCc.1105C>A (p.Pro369Thr)
c.429C>A
c.1207C>A (p.Pro403Thr)
c.1288C>A (p.Pro430Thr)
c.1270C>A (p.Pro424Thr)
c.1168C>A (p.Pro390Thr)
n.1332-401G>T
c.1348C>A (p.Pro450Thr)
c.1450C>A (p.Pro484Thr)
c.1390C>A (p.Pro464Thr)
n.3607-401G>T
n.4043-401G>T
c.1273C>A (p.Pro425Thr)
c.1291C>A (p.Pro431Thr)
c.1048C>A (p.Pro350Thr)
c.1081C>A (p.Pro361Thr)
c.1099C>A (p.Pro367Thr)
2g.127428665C=CA1286884575PROCc.1105C= (p.Pro369=)
c.429C=
c.1207C= (p.Pro403=)
c.1288C= (p.Pro430=)
c.1270C= (p.Pro424=)
c.1168C= (p.Pro390=)
n.1332-401G=
c.1348C= (p.Pro450=)
c.1450C= (p.Pro484=)
c.1390C= (p.Pro464=)
n.3607-401G=
n.4043-401G=
c.1273C= (p.Pro425=)
c.1291C= (p.Pro431=)
c.1048C= (p.Pro350=)
c.1081C= (p.Pro361=)
c.1099C= (p.Pro367=)
2g.127428665C>GCA348405811PROCc.1105C>G (p.Pro369Ala)
c.429C>G
c.1207C>G (p.Pro403Ala)
c.1288C>G (p.Pro430Ala)
c.1270C>G (p.Pro424Ala)
c.1168C>G (p.Pro390Ala)
n.1332-401G>C
c.1348C>G (p.Pro450Ala)
c.1450C>G (p.Pro484Ala)
c.1390C>G (p.Pro464Ala)
n.3607-401G>C
n.4043-401G>C
c.1273C>G (p.Pro425Ala)
c.1291C>G (p.Pro431Ala)
c.1048C>G (p.Pro350Ala)
c.1081C>G (p.Pro361Ala)
c.1099C>G (p.Pro367Ala)
2g.127428665C>TCA348405813PROCc.1105C>T (p.Pro369Ser)
c.429C>T
c.1207C>T (p.Pro403Ser)
c.1288C>T (p.Pro430Ser)
c.1270C>T (p.Pro424Ser)
c.1168C>T (p.Pro390Ser)
n.1332-401G>A
c.1348C>T (p.Pro450Ser)
c.1450C>T (p.Pro484Ser)
c.1390C>T (p.Pro464Ser)
n.3607-401G>A
n.4043-401G>A
c.1273C>T (p.Pro425Ser)
c.1291C>T (p.Pro431Ser)
c.1048C>T (p.Pro350Ser)
c.1081C>T (p.Pro361Ser)
c.1099C>T (p.Pro367Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.127428666C>ACA348405815PROCc.1106C>A (p.Pro369Gln)
c.430C>A
c.1208C>A (p.Pro403Gln)
c.1289C>A (p.Pro430Gln)
c.1271C>A (p.Pro424Gln)
c.1169C>A (p.Pro390Gln)
n.1332-402G>T
c.1349C>A (p.Pro450Gln)
c.1451C>A (p.Pro484Gln)
c.1391C>A (p.Pro464Gln)
n.3607-402G>T
n.4043-402G>T
c.1274C>A (p.Pro425Gln)
c.1292C>A (p.Pro431Gln)
c.1049C>A (p.Pro350Gln)
c.1082C>A (p.Pro361Gln)
c.1100C>A (p.Pro367Gln)
2g.127428666C=CA1286884576PROCc.1106C= (p.Pro369=)
c.430C=
c.1208C= (p.Pro403=)
c.1289C= (p.Pro430=)
c.1271C= (p.Pro424=)
c.1169C= (p.Pro390=)
n.1332-402G=
c.1349C= (p.Pro450=)
c.1451C= (p.Pro484=)
c.1391C= (p.Pro464=)
n.3607-402G=
n.4043-402G=
c.1274C= (p.Pro425=)
c.1292C= (p.Pro431=)
c.1049C= (p.Pro350=)
c.1082C= (p.Pro361=)
c.1100C= (p.Pro367=)
2g.127428666C>GCA348405817PROCc.1106C>G (p.Pro369Arg)
c.430C>G
c.1208C>G (p.Pro403Arg)
c.1289C>G (p.Pro430Arg)
c.1271C>G (p.Pro424Arg)
c.1169C>G (p.Pro390Arg)
n.1332-402G>C
c.1349C>G (p.Pro450Arg)
c.1451C>G (p.Pro484Arg)
c.1391C>G (p.Pro464Arg)
n.3607-402G>C
n.4043-402G>C
c.1274C>G (p.Pro425Arg)
c.1292C>G (p.Pro431Arg)
c.1049C>G (p.Pro350Arg)
c.1082C>G (p.Pro361Arg)
c.1100C>G (p.Pro367Arg)
2g.127428666C>TCA348405818PROCc.1106C>T (p.Pro369Leu)
c.430C>T
c.1208C>T (p.Pro403Leu)
c.1289C>T (p.Pro430Leu)
c.1271C>T (p.Pro424Leu)
c.1169C>T (p.Pro390Leu)
n.1332-402G>A
c.1349C>T (p.Pro450Leu)
c.1451C>T (p.Pro484Leu)
c.1391C>T (p.Pro464Leu)
n.3607-402G>A
n.4043-402G>A
c.1274C>T (p.Pro425Leu)
c.1292C>T (p.Pro431Leu)
c.1049C>T (p.Pro350Leu)
c.1082C>T (p.Pro361Leu)
c.1100C>T (p.Pro367Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.127428667delCA2586969920PROCc.1107del (p.His370ThrfsTer8)
c.431del
c.1209del (p.His404ThrfsTer8)
c.1290del (p.His431ThrfsTer8)
c.1272del (p.His425ThrfsTer8)
c.1170del (p.His391ThrfsTer8)
n.1332-403del
c.1350del (p.His451ThrfsTer8)
c.1452del (p.His485ThrfsTer8)
c.1392del (p.His465ThrfsTer8)
n.3607-403del
n.4043-403del
c.1275del (p.His426ThrfsTer8)
c.1293del (p.His432ThrfsTer8)
c.1050del (p.His351ThrfsTer8)
c.1083del (p.His362ThrfsTer8)
c.1101del (p.His368ThrfsTer8)
2g.127428667G>ACA1859525PROCc.1107G>A (p.Pro369=)
c.431G>A
c.1209G>A (p.Pro403=)
c.1290G>A (p.Pro430=)
c.1272G>A (p.Pro424=)
c.1170G>A (p.Pro390=)
n.1332-403C>T
c.1350G>A (p.Pro450=)
c.1452G>A (p.Pro484=)
c.1392G>A (p.Pro464=)
n.3607-403C>T
n.4043-403C>T
c.1275G>A (p.Pro425=)
c.1293G>A (p.Pro431=)
c.1050G>A (p.Pro350=)
c.1083G>A (p.Pro361=)
c.1101G>A (p.Pro367=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428667G>CCA428873099PROCc.1107G>C (p.Pro369=)
c.431G>C
c.1209G>C (p.Pro403=)
c.1290G>C (p.Pro430=)
c.1272G>C (p.Pro424=)
c.1170G>C (p.Pro390=)
n.1332-403C>G
c.1350G>C (p.Pro450=)
c.1452G>C (p.Pro484=)
c.1392G>C (p.Pro464=)
n.3607-403C>G
n.4043-403C>G
c.1275G>C (p.Pro425=)
c.1293G>C (p.Pro431=)
c.1050G>C (p.Pro350=)
c.1083G>C (p.Pro361=)
c.1101G>C (p.Pro367=)
2g.127428667G=CA1286884577PROCc.1107G= (p.Pro369=)
c.431G=
c.1209G= (p.Pro403=)
c.1290G= (p.Pro430=)
c.1272G= (p.Pro424=)
c.1170G= (p.Pro390=)
n.1332-403C=
c.1350G= (p.Pro450=)
c.1452G= (p.Pro484=)
c.1392G= (p.Pro464=)
n.3607-403C=
n.4043-403C=
c.1275G= (p.Pro425=)
c.1293G= (p.Pro431=)
c.1050G= (p.Pro350=)
c.1083G= (p.Pro361=)
c.1101G= (p.Pro367=)
2g.127428667G>TCA428873102PROCc.1107G>T (p.Pro369=)
c.431G>T
c.1209G>T (p.Pro403=)
c.1290G>T (p.Pro430=)
c.1272G>T (p.Pro424=)
c.1170G>T (p.Pro390=)
n.1332-403C>A
c.1350G>T (p.Pro450=)
c.1452G>T (p.Pro484=)
c.1392G>T (p.Pro464=)
n.3607-403C>A
n.4043-403C>A
c.1275G>T (p.Pro425=)
c.1293G>T (p.Pro431=)
c.1050G>T (p.Pro350=)
c.1083G>T (p.Pro361=)
c.1101G>T (p.Pro367=)
2g.127428668C>ACA348405825PROCc.1108C>A (p.His370Asn)
c.432C>A
c.1210C>A (p.His404Asn)
c.1291C>A (p.His431Asn)
c.1273C>A (p.His425Asn)
c.1171C>A (p.His391Asn)
n.1332-404G>T
c.1351C>A (p.His451Asn)
c.1453C>A (p.His485Asn)
c.1393C>A (p.His465Asn)
n.3607-404G>T
n.4043-404G>T
c.1276C>A (p.His426Asn)
c.1294C>A (p.His432Asn)
c.1051C>A (p.His351Asn)
c.1084C>A (p.His362Asn)
c.1102C>A (p.His368Asn)
2g.127428668C>GCA348405822PROCc.1108C>G (p.His370Asp)
c.432C>G
c.1210C>G (p.His404Asp)
c.1291C>G (p.His431Asp)
c.1273C>G (p.His425Asp)
c.1171C>G (p.His391Asp)
n.1332-404G>C
c.1351C>G (p.His451Asp)
c.1453C>G (p.His485Asp)
c.1393C>G (p.His465Asp)
n.3607-404G>C
n.4043-404G>C
c.1276C>G (p.His426Asp)
c.1294C>G (p.His432Asp)
c.1051C>G (p.His351Asp)
c.1084C>G (p.His362Asp)
c.1102C>G (p.His368Asp)
2g.127428668C>TCA348405821PROCc.1108C>T (p.His370Tyr)
c.432C>T
c.1210C>T (p.His404Tyr)
c.1291C>T (p.His431Tyr)
c.1273C>T (p.His425Tyr)
c.1171C>T (p.His391Tyr)
n.1332-404G>A
c.1351C>T (p.His451Tyr)
c.1453C>T (p.His485Tyr)
c.1393C>T (p.His465Tyr)
n.3607-404G>A
n.4043-404G>A
c.1276C>T (p.His426Tyr)
c.1294C>T (p.His432Tyr)
c.1051C>T (p.His351Tyr)
c.1084C>T (p.His362Tyr)
c.1102C>T (p.His368Tyr)
2g.127428669A>CCA348405828PROCc.1109A>C (p.His370Pro)
c.433A>C
c.1211A>C (p.His404Pro)
c.1292A>C (p.His431Pro)
c.1274A>C (p.His425Pro)
c.1172A>C (p.His391Pro)
n.1332-405T>G
c.1352A>C (p.His451Pro)
c.1454A>C (p.His485Pro)
c.1394A>C (p.His465Pro)
n.3607-405T>G
n.4043-405T>G
c.1277A>C (p.His426Pro)
c.1295A>C (p.His432Pro)
c.1052A>C (p.His351Pro)
c.1085A>C (p.His362Pro)
c.1103A>C (p.His368Pro)
2g.127428669A>GCA348405827PROCc.1109A>G (p.His370Arg)
c.433A>G
c.1211A>G (p.His404Arg)
c.1292A>G (p.His431Arg)
c.1274A>G (p.His425Arg)
c.1172A>G (p.His391Arg)
n.1332-405T>C
c.1352A>G (p.His451Arg)
c.1454A>G (p.His485Arg)
c.1394A>G (p.His465Arg)
n.3607-405T>C
n.4043-405T>C
c.1277A>G (p.His426Arg)
c.1295A>G (p.His432Arg)
c.1052A>G (p.His351Arg)
c.1085A>G (p.His362Arg)
c.1103A>G (p.His368Arg)
2g.127428669A>TCA348405829PROCc.1109A>T (p.His370Leu)
c.433A>T
c.1211A>T (p.His404Leu)
c.1292A>T (p.His431Leu)
c.1274A>T (p.His425Leu)
c.1172A>T (p.His391Leu)
n.1332-405T>A
c.1352A>T (p.His451Leu)
c.1454A>T (p.His485Leu)
c.1394A>T (p.His465Leu)
n.3607-405T>A
n.4043-405T>A
c.1277A>T (p.His426Leu)
c.1295A>T (p.His432Leu)
c.1052A>T (p.His351Leu)
c.1085A>T (p.His362Leu)
c.1103A>T (p.His368Leu)
2g.127428670C>ACA1859526PROCc.1110C>A (p.His370Gln)
c.434C>A
c.1212C>A (p.His404Gln)
c.1293C>A (p.His431Gln)
c.1275C>A (p.His425Gln)
c.1173C>A (p.His391Gln)
n.1332-406G>T
c.1353C>A (p.His451Gln)
c.1455C>A (p.His485Gln)
c.1395C>A (p.His465Gln)
n.3607-406G>T
n.4043-406G>T
c.1278C>A (p.His426Gln)
c.1296C>A (p.His432Gln)
c.1053C>A (p.His351Gln)
c.1086C>A (p.His362Gln)
c.1104C>A (p.His368Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428670C=CA1286884578PROCc.1110C= (p.His370=)
c.434C=
c.1212C= (p.His404=)
c.1293C= (p.His431=)
c.1275C= (p.His425=)
c.1173C= (p.His391=)
n.1332-406G=
c.1353C= (p.His451=)
c.1455C= (p.His485=)
c.1395C= (p.His465=)
n.3607-406G=
n.4043-406G=
c.1278C= (p.His426=)
c.1296C= (p.His432=)
c.1053C= (p.His351=)
c.1086C= (p.His362=)
c.1104C= (p.His368=)
2g.127428670C>GCA348405832PROCc.1110C>G (p.His370Gln)
c.434C>G
c.1212C>G (p.His404Gln)
c.1293C>G (p.His431Gln)
c.1275C>G (p.His425Gln)
c.1173C>G (p.His391Gln)
n.1332-406G>C
c.1353C>G (p.His451Gln)
c.1455C>G (p.His485Gln)
c.1395C>G (p.His465Gln)
n.3607-406G>C
n.4043-406G>C
c.1278C>G (p.His426Gln)
c.1296C>G (p.His432Gln)
c.1053C>G (p.His351Gln)
c.1086C>G (p.His362Gln)
c.1104C>G (p.His368Gln)
2g.127428670C>TCA428873103PROCc.1110C>T (p.His370=)
c.434C>T
c.1212C>T (p.His404=)
c.1293C>T (p.His431=)
c.1275C>T (p.His425=)
c.1173C>T (p.His391=)
n.1332-406G>A
c.1353C>T (p.His451=)
c.1455C>T (p.His485=)
c.1395C>T (p.His465=)
n.3607-406G>A
n.4043-406G>A
c.1278C>T (p.His426=)
c.1296C>T (p.His432=)
c.1053C>T (p.His351=)
c.1086C>T (p.His362=)
c.1104C>T (p.His368=)
2g.127428670_127428673delinsCAATCA1286884579PROCc.1110_1113delinsCAAT (p.His370=)
c.434_437delinsCAAT
c.1212_1215delinsCAAT (p.His404=)
c.1293_1296delinsCAAT (p.His431=)
c.1275_1278delinsCAAT (p.His425=)
c.1173_1176delinsCAAT (p.His391=)
n.1332-409_1332-406delinsATTG
c.1353_1356delinsCAAT (p.His451=)
c.1455_1458delinsCAAT (p.His485=)
c.1395_1398delinsCAAT (p.His465=)
n.3607-409_3607-406delinsATTG
n.4043-409_4043-406delinsATTG
c.1278_1281delinsCAAT (p.His426=)
c.1296_1299delinsCAAT (p.His432=)
c.1053_1056delinsCAAT (p.His351=)
c.1086_1089delinsCAAT (p.His362=)
c.1104_1107delinsCAAT (p.His368=)
2g.127428671A=CA1286884580PROCc.1111A= (p.Asn371=)
c.435A=
c.1213A= (p.Asn405=)
c.1294A= (p.Asn432=)
c.1276A= (p.Asn426=)
c.1174A= (p.Asn392=)
n.1332-407T=
c.1354A= (p.Asn452=)
c.1456A= (p.Asn486=)
c.1396A= (p.Asn466=)
n.3607-407T=
n.4043-407T=
c.1279A= (p.Asn427=)
c.1297A= (p.Asn433=)
c.1054A= (p.Asn352=)
c.1087A= (p.Asn363=)
c.1105A= (p.Asn369=)
2g.127428671A>CCA348405834PROCc.1111A>C (p.Asn371His)
c.435A>C
c.1213A>C (p.Asn405His)
c.1294A>C (p.Asn432His)
c.1276A>C (p.Asn426His)
c.1174A>C (p.Asn392His)
n.1332-407T>G
c.1354A>C (p.Asn452His)
c.1456A>C (p.Asn486His)
c.1396A>C (p.Asn466His)
n.3607-407T>G
n.4043-407T>G
c.1279A>C (p.Asn427His)
c.1297A>C (p.Asn433His)
c.1054A>C (p.Asn352His)
c.1087A>C (p.Asn363His)
c.1105A>C (p.Asn369His)
2g.127428671A>GCA1859527PROCc.1111A>G (p.Asn371Asp)
c.435A>G
c.1213A>G (p.Asn405Asp)
c.1294A>G (p.Asn432Asp)
c.1276A>G (p.Asn426Asp)
c.1174A>G (p.Asn392Asp)
n.1332-407T>C
c.1354A>G (p.Asn452Asp)
c.1456A>G (p.Asn486Asp)
c.1396A>G (p.Asn466Asp)
n.3607-407T>C
n.4043-407T>C
c.1279A>G (p.Asn427Asp)
c.1297A>G (p.Asn433Asp)
c.1054A>G (p.Asn352Asp)
c.1087A>G (p.Asn363Asp)
c.1105A>G (p.Asn369Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428671A>TCA348405837PROCc.1111A>T (p.Asn371Tyr)
c.435A>T
c.1213A>T (p.Asn405Tyr)
c.1294A>T (p.Asn432Tyr)
c.1276A>T (p.Asn426Tyr)
c.1174A>T (p.Asn392Tyr)
n.1332-407T>A
c.1354A>T (p.Asn452Tyr)
c.1456A>T (p.Asn486Tyr)
c.1396A>T (p.Asn466Tyr)
n.3607-407T>A
n.4043-407T>A
c.1279A>T (p.Asn427Tyr)
c.1297A>T (p.Asn433Tyr)
c.1054A>T (p.Asn352Tyr)
c.1087A>T (p.Asn363Tyr)
c.1105A>T (p.Asn369Tyr)
2g.127428671_127428673delCA756631136PROCc.1111_1113del (p.Asn371del)
c.435_437del
c.1213_1215del (p.Asn405del)
c.1294_1296del (p.Asn432del)
c.1276_1278del (p.Asn426del)
c.1174_1176del (p.Asn392del)
n.1332-409_1332-407del
c.1354_1356del (p.Asn452del)
c.1456_1458del (p.Asn486del)
c.1396_1398del (p.Asn466del)
n.3607-409_3607-407del
n.4043-409_4043-407del
c.1279_1281del (p.Asn427del)
c.1297_1299del (p.Asn433del)
c.1054_1056del (p.Asn352del)
c.1087_1089del (p.Asn363del)
c.1105_1107del (p.Asn369del)
 dbSNP
2g.127428672A=CA1286884581PROCc.1112A= (p.Asn371=)
c.436A=
c.1214A= (p.Asn405=)
c.1295A= (p.Asn432=)
c.1277A= (p.Asn426=)
c.1175A= (p.Asn392=)
n.1332-408T=
c.1355A= (p.Asn452=)
c.1457A= (p.Asn486=)
c.1397A= (p.Asn466=)
n.3607-408T=
n.4043-408T=
c.1280A= (p.Asn427=)
c.1298A= (p.Asn433=)
c.1055A= (p.Asn352=)
c.1088A= (p.Asn363=)
c.1106A= (p.Asn369=)
2g.127428672A>CCA348405838PROCc.1112A>C (p.Asn371Thr)
c.436A>C
c.1214A>C (p.Asn405Thr)
c.1295A>C (p.Asn432Thr)
c.1277A>C (p.Asn426Thr)
c.1175A>C (p.Asn392Thr)
n.1332-408T>G
c.1355A>C (p.Asn452Thr)
c.1457A>C (p.Asn486Thr)
c.1397A>C (p.Asn466Thr)
n.3607-408T>G
n.4043-408T>G
c.1280A>C (p.Asn427Thr)
c.1298A>C (p.Asn433Thr)
c.1055A>C (p.Asn352Thr)
c.1088A>C (p.Asn363Thr)
c.1106A>C (p.Asn369Thr)
 dbSNP gnomAD v4
2g.127428672A>GCA348405840PROCc.1112A>G (p.Asn371Ser)
c.436A>G
c.1214A>G (p.Asn405Ser)
c.1295A>G (p.Asn432Ser)
c.1277A>G (p.Asn426Ser)
c.1175A>G (p.Asn392Ser)
n.1332-408T>C
c.1355A>G (p.Asn452Ser)
c.1457A>G (p.Asn486Ser)
c.1397A>G (p.Asn466Ser)
n.3607-408T>C
n.4043-408T>C
c.1280A>G (p.Asn427Ser)
c.1298A>G (p.Asn433Ser)
c.1055A>G (p.Asn352Ser)
c.1088A>G (p.Asn363Ser)
c.1106A>G (p.Asn369Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.127428672A>TCA348405841PROCc.1112A>T (p.Asn371Ile)
c.436A>T
c.1214A>T (p.Asn405Ile)
c.1295A>T (p.Asn432Ile)
c.1277A>T (p.Asn426Ile)
c.1175A>T (p.Asn392Ile)
n.1332-408T>A
c.1355A>T (p.Asn452Ile)
c.1457A>T (p.Asn486Ile)
c.1397A>T (p.Asn466Ile)
n.3607-408T>A
n.4043-408T>A
c.1280A>T (p.Asn427Ile)
c.1298A>T (p.Asn433Ile)
c.1055A>T (p.Asn352Ile)
c.1088A>T (p.Asn363Ile)
c.1106A>T (p.Asn369Ile)
2g.127428673T>ACA348405844PROCc.1113T>A (p.Asn371Lys)
c.437T>A
c.1215T>A (p.Asn405Lys)
c.1296T>A (p.Asn432Lys)
c.1278T>A (p.Asn426Lys)
c.1176T>A (p.Asn392Lys)
n.1332-409A>T
c.1356T>A (p.Asn452Lys)
c.1458T>A (p.Asn486Lys)
c.1398T>A (p.Asn466Lys)
n.3607-409A>T
n.4043-409A>T
c.1281T>A (p.Asn427Lys)
c.1299T>A (p.Asn433Lys)
c.1056T>A (p.Asn352Lys)
c.1089T>A (p.Asn363Lys)
c.1107T>A (p.Asn369Lys)
2g.127428673T>CCA428873119PROCc.1113T>C (p.Asn371=)
c.437T>C
c.1215T>C (p.Asn405=)
c.1296T>C (p.Asn432=)
c.1278T>C (p.Asn426=)
c.1176T>C (p.Asn392=)
n.1332-409A>G
c.1356T>C (p.Asn452=)
c.1458T>C (p.Asn486=)
c.1398T>C (p.Asn466=)
n.3607-409A>G
n.4043-409A>G
c.1281T>C (p.Asn427=)
c.1299T>C (p.Asn433=)
c.1056T>C (p.Asn352=)
c.1089T>C (p.Asn363=)
c.1107T>C (p.Asn369=)
 dbSNP gnomAD v4
2g.127428673T>GCA348405845PROCc.1113T>G (p.Asn371Lys)
c.437T>G
c.1215T>G (p.Asn405Lys)
c.1296T>G (p.Asn432Lys)
c.1278T>G (p.Asn426Lys)
c.1176T>G (p.Asn392Lys)
n.1332-409A>C
c.1356T>G (p.Asn452Lys)
c.1458T>G (p.Asn486Lys)
c.1398T>G (p.Asn466Lys)
n.3607-409A>C
n.4043-409A>C
c.1281T>G (p.Asn427Lys)
c.1299T>G (p.Asn433Lys)
c.1056T>G (p.Asn352Lys)
c.1089T>G (p.Asn363Lys)
c.1107T>G (p.Asn369Lys)
2g.127428673T=CA1286884582PROCc.1113T= (p.Asn371=)
c.437T=
c.1215T= (p.Asn405=)
c.1296T= (p.Asn432=)
c.1278T= (p.Asn426=)
c.1176T= (p.Asn392=)
n.1332-409A=
c.1356T= (p.Asn452=)
c.1458T= (p.Asn486=)
c.1398T= (p.Asn466=)
n.3607-409A=
n.4043-409A=
c.1281T= (p.Asn427=)
c.1299T= (p.Asn433=)
c.1056T= (p.Asn352=)
c.1089T= (p.Asn363=)
c.1107T= (p.Asn369=)
2g.127428674G>ACA348405847PROCc.1114G>A (p.Glu372Lys)
c.438G>A
c.1216G>A (p.Glu406Lys)
c.1297G>A (p.Glu433Lys)
c.1279G>A (p.Glu427Lys)
c.1177G>A (p.Glu393Lys)
n.1332-410C>T
c.1357G>A (p.Glu453Lys)
c.1459G>A (p.Glu487Lys)
c.1399G>A (p.Glu467Lys)
n.3607-410C>T
n.4043-410C>T
c.1282G>A (p.Glu428Lys)
c.1300G>A (p.Glu434Lys)
c.1057G>A (p.Glu353Lys)
c.1090G>A (p.Glu364Lys)
c.1108G>A (p.Glu370Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.127428674G>CCA348405849PROCc.1114G>C (p.Glu372Gln)
c.438G>C
c.1216G>C (p.Glu406Gln)
c.1297G>C (p.Glu433Gln)
c.1279G>C (p.Glu427Gln)
c.1177G>C (p.Glu393Gln)
n.1332-410C>G
c.1357G>C (p.Glu453Gln)
c.1459G>C (p.Glu487Gln)
c.1399G>C (p.Glu467Gln)
n.3607-410C>G
n.4043-410C>G
c.1282G>C (p.Glu428Gln)
c.1300G>C (p.Glu434Gln)
c.1057G>C (p.Glu353Gln)
c.1090G>C (p.Glu364Gln)
c.1108G>C (p.Glu370Gln)
2g.127428674G=CA1286884583PROCc.1114G= (p.Glu372=)
c.438G=
c.1216G= (p.Glu406=)
c.1297G= (p.Glu433=)
c.1279G= (p.Glu427=)
c.1177G= (p.Glu393=)
n.1332-410C=
c.1357G= (p.Glu453=)
c.1459G= (p.Glu487=)
c.1399G= (p.Glu467=)
n.3607-410C=
n.4043-410C=
c.1282G= (p.Glu428=)
c.1300G= (p.Glu434=)
c.1057G= (p.Glu353=)
c.1090G= (p.Glu364=)
c.1108G= (p.Glu370=)
2g.127428674G>TCA348405850PROCc.1114G>T (p.Glu372Ter)
c.438G>T
c.1216G>T (p.Glu406Ter)
c.1297G>T (p.Glu433Ter)
c.1279G>T (p.Glu427Ter)
c.1177G>T (p.Glu393Ter)
n.1332-410C>A
c.1357G>T (p.Glu453Ter)
c.1459G>T (p.Glu487Ter)
c.1399G>T (p.Glu467Ter)
n.3607-410C>A
n.4043-410C>A
c.1282G>T (p.Glu428Ter)
c.1300G>T (p.Glu434Ter)
c.1057G>T (p.Glu353Ter)
c.1090G>T (p.Glu364Ter)
c.1108G>T (p.Glu370Ter)
2g.127428675A=CA1286884584PROCc.1115A= (p.Glu372=)
c.439A=
c.1217A= (p.Glu406=)
c.1298A= (p.Glu433=)
c.1280A= (p.Glu427=)
c.1178A= (p.Glu393=)
n.1332-411T=
c.1358A= (p.Glu453=)
c.1460A= (p.Glu487=)
c.1400A= (p.Glu467=)
n.3607-411T=
n.4043-411T=
c.1283A= (p.Glu428=)
c.1301A= (p.Glu434=)
c.1058A= (p.Glu353=)
c.1091A= (p.Glu364=)
c.1109A= (p.Glu370=)
2g.127428675A>CCA348405852PROCc.1115A>C (p.Glu372Ala)
c.439A>C
c.1217A>C (p.Glu406Ala)
c.1298A>C (p.Glu433Ala)
c.1280A>C (p.Glu427Ala)
c.1178A>C (p.Glu393Ala)
n.1332-411T>G
c.1358A>C (p.Glu453Ala)
c.1460A>C (p.Glu487Ala)
c.1400A>C (p.Glu467Ala)
n.3607-411T>G
n.4043-411T>G
c.1283A>C (p.Glu428Ala)
c.1301A>C (p.Glu434Ala)
c.1058A>C (p.Glu353Ala)
c.1091A>C (p.Glu364Ala)
c.1109A>C (p.Glu370Ala)
 gnomAD v4
2g.127428675A>GCA55351185PROCc.1115A>G (p.Glu372Gly)
c.439A>G
c.1217A>G (p.Glu406Gly)
c.1298A>G (p.Glu433Gly)
c.1280A>G (p.Glu427Gly)
c.1178A>G (p.Glu393Gly)
n.1332-411T>C
c.1358A>G (p.Glu453Gly)
c.1460A>G (p.Glu487Gly)
c.1400A>G (p.Glu467Gly)
n.3607-411T>C
n.4043-411T>C
c.1283A>G (p.Glu428Gly)
c.1301A>G (p.Glu434Gly)
c.1058A>G (p.Glu353Gly)
c.1091A>G (p.Glu364Gly)
c.1109A>G (p.Glu370Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.127428675A>TCA348405854PROCc.1115A>T (p.Glu372Val)
c.439A>T
c.1217A>T (p.Glu406Val)
c.1298A>T (p.Glu433Val)
c.1280A>T (p.Glu427Val)
c.1178A>T (p.Glu393Val)
n.1332-411T>A
c.1358A>T (p.Glu453Val)
c.1460A>T (p.Glu487Val)
c.1400A>T (p.Glu467Val)
n.3607-411T>A
n.4043-411T>A
c.1283A>T (p.Glu428Val)
c.1301A>T (p.Glu434Val)
c.1058A>T (p.Glu353Val)
c.1091A>T (p.Glu364Val)
c.1109A>T (p.Glu370Val)
 gnomAD v4
2g.127428676G>ACA428873134PROCc.1116G>A (p.Glu372=)
c.440G>A
c.1218G>A (p.Glu406=)
c.1299G>A (p.Glu433=)
c.1281G>A (p.Glu427=)
c.1179G>A (p.Glu393=)
n.1332-412C>T
c.1359G>A (p.Glu453=)
c.1461G>A (p.Glu487=)
c.1401G>A (p.Glu467=)
n.3607-412C>T
n.4043-412C>T
c.1284G>A (p.Glu428=)
c.1302G>A (p.Glu434=)
c.1059G>A (p.Glu353=)
c.1092G>A (p.Glu364=)
c.1110G>A (p.Glu370=)
2g.127428676G>CCA348405856PROCc.1116G>C (p.Glu372Asp)
c.440G>C
c.1218G>C (p.Glu406Asp)
c.1299G>C (p.Glu433Asp)
c.1281G>C (p.Glu427Asp)
c.1179G>C (p.Glu393Asp)
n.1332-412C>G
c.1359G>C (p.Glu453Asp)
c.1461G>C (p.Glu487Asp)
c.1401G>C (p.Glu467Asp)
n.3607-412C>G
n.4043-412C>G
c.1284G>C (p.Glu428Asp)
c.1302G>C (p.Glu434Asp)
c.1059G>C (p.Glu353Asp)
c.1092G>C (p.Glu364Asp)
c.1110G>C (p.Glu370Asp)
2g.127428676G>TCA348405858PROCc.1116G>T (p.Glu372Asp)
c.440G>T
c.1218G>T (p.Glu406Asp)
c.1299G>T (p.Glu433Asp)
c.1281G>T (p.Glu427Asp)
c.1179G>T (p.Glu393Asp)
n.1332-412C>A
c.1359G>T (p.Glu453Asp)
c.1461G>T (p.Glu487Asp)
c.1401G>T (p.Glu467Asp)
n.3607-412C>A
n.4043-412C>A
c.1284G>T (p.Glu428Asp)
c.1302G>T (p.Glu434Asp)
c.1059G>T (p.Glu353Asp)
c.1092G>T (p.Glu364Asp)
c.1110G>T (p.Glu370Asp)
2g.127428677T>ACA348405860PROCc.1117T>A (p.Cys373Ser)
c.441T>A
c.1219T>A (p.Cys407Ser)
c.1300T>A (p.Cys434Ser)
c.1282T>A (p.Cys428Ser)
c.1180T>A (p.Cys394Ser)
n.1332-413A>T
c.1360T>A (p.Cys454Ser)
c.1462T>A (p.Cys488Ser)
c.1402T>A (p.Cys468Ser)
n.3607-413A>T
n.4043-413A>T
c.1285T>A (p.Cys429Ser)
c.1303T>A (p.Cys435Ser)
c.1060T>A (p.Cys354Ser)
c.1093T>A (p.Cys365Ser)
c.1111T>A (p.Cys371Ser)
 ClinVar
2g.127428677T>CCA348405861PROCc.1117T>C (p.Cys373Arg)
c.441T>C
c.1219T>C (p.Cys407Arg)
c.1300T>C (p.Cys434Arg)
c.1282T>C (p.Cys428Arg)
c.1180T>C (p.Cys394Arg)
n.1332-413A>G
c.1360T>C (p.Cys454Arg)
c.1462T>C (p.Cys488Arg)
c.1402T>C (p.Cys468Arg)
n.3607-413A>G
n.4043-413A>G
c.1285T>C (p.Cys429Arg)
c.1303T>C (p.Cys435Arg)
c.1060T>C (p.Cys354Arg)
c.1093T>C (p.Cys365Arg)
c.1111T>C (p.Cys371Arg)
 COSMIC COSMIC
2g.127428677T>GCA348405863PROCc.1117T>G (p.Cys373Gly)
c.441T>G
c.1219T>G (p.Cys407Gly)
c.1300T>G (p.Cys434Gly)
c.1282T>G (p.Cys428Gly)
c.1180T>G (p.Cys394Gly)
n.1332-413A>C
c.1360T>G (p.Cys454Gly)
c.1462T>G (p.Cys488Gly)
c.1402T>G (p.Cys468Gly)
n.3607-413A>C
n.4043-413A>C
c.1285T>G (p.Cys429Gly)
c.1303T>G (p.Cys435Gly)
c.1060T>G (p.Cys354Gly)
c.1093T>G (p.Cys365Gly)
c.1111T>G (p.Cys371Gly)
2g.127428678G>ACA348405866PROCc.1118G>A (p.Cys373Tyr)
c.442G>A
c.1220G>A (p.Cys407Tyr)
c.1301G>A (p.Cys434Tyr)
c.1283G>A (p.Cys428Tyr)
c.1181G>A (p.Cys394Tyr)
n.1332-414C>T
c.1361G>A (p.Cys454Tyr)
c.1463G>A (p.Cys488Tyr)
c.1403G>A (p.Cys468Tyr)
n.3607-414C>T
n.4043-414C>T
c.1286G>A (p.Cys429Tyr)
c.1304G>A (p.Cys435Tyr)
c.1061G>A (p.Cys354Tyr)
c.1094G>A (p.Cys365Tyr)
c.1112G>A (p.Cys371Tyr)
2g.127428678G>CCA348405867PROCc.1118G>C (p.Cys373Ser)
c.442G>C
c.1220G>C (p.Cys407Ser)
c.1301G>C (p.Cys434Ser)
c.1283G>C (p.Cys428Ser)
c.1181G>C (p.Cys394Ser)
n.1332-414C>G
c.1361G>C (p.Cys454Ser)
c.1463G>C (p.Cys488Ser)
c.1403G>C (p.Cys468Ser)
n.3607-414C>G
n.4043-414C>G
c.1286G>C (p.Cys429Ser)
c.1304G>C (p.Cys435Ser)
c.1061G>C (p.Cys354Ser)
c.1094G>C (p.Cys365Ser)
c.1112G>C (p.Cys371Ser)
2g.127428678G>TCA348405869PROCc.1118G>T (p.Cys373Phe)
c.442G>T
c.1220G>T (p.Cys407Phe)
c.1301G>T (p.Cys434Phe)
c.1283G>T (p.Cys428Phe)
c.1181G>T (p.Cys394Phe)
n.1332-414C>A
c.1361G>T (p.Cys454Phe)
c.1463G>T (p.Cys488Phe)
c.1403G>T (p.Cys468Phe)
n.3607-414C>A
n.4043-414C>A
c.1286G>T (p.Cys429Phe)
c.1304G>T (p.Cys435Phe)
c.1061G>T (p.Cys354Phe)
c.1094G>T (p.Cys365Phe)
c.1112G>T (p.Cys371Phe)
2g.127428679C>ACA348405872PROCc.1119C>A (p.Cys373Ter)
c.443C>A
c.1221C>A (p.Cys407Ter)
c.1302C>A (p.Cys434Ter)
c.1284C>A (p.Cys428Ter)
c.1182C>A (p.Cys394Ter)
n.1332-415G>T
c.1362C>A (p.Cys454Ter)
c.1464C>A (p.Cys488Ter)
c.1404C>A (p.Cys468Ter)
n.3607-415G>T
n.4043-415G>T
c.1287C>A (p.Cys429Ter)
c.1305C>A (p.Cys435Ter)
c.1062C>A (p.Cys354Ter)
c.1095C>A (p.Cys365Ter)
c.1113C>A (p.Cys371Ter)
2g.127428679C>GCA348405873PROCc.1119C>G (p.Cys373Trp)
c.443C>G
c.1221C>G (p.Cys407Trp)
c.1302C>G (p.Cys434Trp)
c.1284C>G (p.Cys428Trp)
c.1182C>G (p.Cys394Trp)
n.1332-415G>C
c.1362C>G (p.Cys454Trp)
c.1464C>G (p.Cys488Trp)
c.1404C>G (p.Cys468Trp)
n.3607-415G>C
n.4043-415G>C
c.1287C>G (p.Cys429Trp)
c.1305C>G (p.Cys435Trp)
c.1062C>G (p.Cys354Trp)
c.1095C>G (p.Cys365Trp)
c.1113C>G (p.Cys371Trp)
2g.127428679C>TCA428873164PROCc.1119C>T (p.Cys373=)
c.443C>T
c.1221C>T (p.Cys407=)
c.1302C>T (p.Cys434=)
c.1284C>T (p.Cys428=)
c.1182C>T (p.Cys394=)
n.1332-415G>A
c.1362C>T (p.Cys454=)
c.1464C>T (p.Cys488=)
c.1404C>T (p.Cys468=)
n.3607-415G>A
n.4043-415G>A
c.1287C>T (p.Cys429=)
c.1305C>T (p.Cys435=)
c.1062C>T (p.Cys354=)
c.1095C>T (p.Cys365=)
c.1113C>T (p.Cys371=)
 gnomAD v4
2g.127428680A=CA1286884585PROCc.1120A= (p.Ser374=)
c.444A=
c.1222A= (p.Ser408=)
c.1303A= (p.Ser435=)
c.1285A= (p.Ser429=)
c.1183A= (p.Ser395=)
n.1332-416T=
c.1363A= (p.Ser455=)
c.1465A= (p.Ser489=)
c.1405A= (p.Ser469=)
n.3607-416T=
n.4043-416T=
c.1288A= (p.Ser430=)
c.1306A= (p.Ser436=)
c.1063A= (p.Ser355=)
c.1096A= (p.Ser366=)
c.1114A= (p.Ser372=)
2g.127428680A>CCA348405876PROCc.1120A>C (p.Ser374Arg)
c.444A>C
c.1222A>C (p.Ser408Arg)
c.1303A>C (p.Ser435Arg)
c.1285A>C (p.Ser429Arg)
c.1183A>C (p.Ser395Arg)
n.1332-416T>G
c.1363A>C (p.Ser455Arg)
c.1465A>C (p.Ser489Arg)
c.1405A>C (p.Ser469Arg)
n.3607-416T>G
n.4043-416T>G
c.1288A>C (p.Ser430Arg)
c.1306A>C (p.Ser436Arg)
c.1063A>C (p.Ser355Arg)
c.1096A>C (p.Ser366Arg)
c.1114A>C (p.Ser372Arg)
2g.127428680A>GCA55351197PROCc.1120A>G (p.Ser374Gly)
c.444A>G
c.1222A>G (p.Ser408Gly)
c.1303A>G (p.Ser435Gly)
c.1285A>G (p.Ser429Gly)
c.1183A>G (p.Ser395Gly)
n.1332-416T>C
c.1363A>G (p.Ser455Gly)
c.1465A>G (p.Ser489Gly)
c.1405A>G (p.Ser469Gly)
n.3607-416T>C
n.4043-416T>C
c.1288A>G (p.Ser430Gly)
c.1306A>G (p.Ser436Gly)
c.1063A>G (p.Ser355Gly)
c.1096A>G (p.Ser366Gly)
c.1114A>G (p.Ser372Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428680A>TCA1859528PROCc.1120A>T (p.Ser374Cys)
c.444A>T
c.1222A>T (p.Ser408Cys)
c.1303A>T (p.Ser435Cys)
c.1285A>T (p.Ser429Cys)
c.1183A>T (p.Ser395Cys)
n.1332-416T>A
c.1363A>T (p.Ser455Cys)
c.1465A>T (p.Ser489Cys)
c.1405A>T (p.Ser469Cys)
n.3607-416T>A
n.4043-416T>A
c.1288A>T (p.Ser430Cys)
c.1306A>T (p.Ser436Cys)
c.1063A>T (p.Ser355Cys)
c.1096A>T (p.Ser366Cys)
c.1114A>T (p.Ser372Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428681G>ACA1859529PROCc.1121G>A (p.Ser374Asn)
c.445G>A
c.1223G>A (p.Ser408Asn)
c.1304G>A (p.Ser435Asn)
c.1286G>A (p.Ser429Asn)
c.1184G>A (p.Ser395Asn)
n.1332-417C>T
c.1364G>A (p.Ser455Asn)
c.1466G>A (p.Ser489Asn)
c.1406G>A (p.Ser469Asn)
n.3607-417C>T
n.4043-417C>T
c.1289G>A (p.Ser430Asn)
c.1307G>A (p.Ser436Asn)
c.1064G>A (p.Ser355Asn)
c.1097G>A (p.Ser366Asn)
c.1115G>A (p.Ser372Asn)
 dbSNP ExAC
2g.127428681G>CCA348405877PROCc.1121G>C (p.Ser374Thr)
c.445G>C
c.1223G>C (p.Ser408Thr)
c.1304G>C (p.Ser435Thr)
c.1286G>C (p.Ser429Thr)
c.1184G>C (p.Ser395Thr)
n.1332-417C>G
c.1364G>C (p.Ser455Thr)
c.1466G>C (p.Ser489Thr)
c.1406G>C (p.Ser469Thr)
n.3607-417C>G
n.4043-417C>G
c.1289G>C (p.Ser430Thr)
c.1307G>C (p.Ser436Thr)
c.1064G>C (p.Ser355Thr)
c.1097G>C (p.Ser366Thr)
c.1115G>C (p.Ser372Thr)
2g.127428681G=CA1286884586PROCc.1121G= (p.Ser374=)
c.445G=
c.1223G= (p.Ser408=)
c.1304G= (p.Ser435=)
c.1286G= (p.Ser429=)
c.1184G= (p.Ser395=)
n.1332-417C=
c.1364G= (p.Ser455=)
c.1466G= (p.Ser489=)
c.1406G= (p.Ser469=)
n.3607-417C=
n.4043-417C=
c.1289G= (p.Ser430=)
c.1307G= (p.Ser436=)
c.1064G= (p.Ser355=)
c.1097G= (p.Ser366=)
c.1115G= (p.Ser372=)
2g.127428681G>TCA348405879PROCc.1121G>T (p.Ser374Ile)
c.445G>T
c.1223G>T (p.Ser408Ile)
c.1304G>T (p.Ser435Ile)
c.1286G>T (p.Ser429Ile)
c.1184G>T (p.Ser395Ile)
n.1332-417C>A
c.1364G>T (p.Ser455Ile)
c.1466G>T (p.Ser489Ile)
c.1406G>T (p.Ser469Ile)
n.3607-417C>A
n.4043-417C>A
c.1289G>T (p.Ser430Ile)
c.1307G>T (p.Ser436Ile)
c.1064G>T (p.Ser355Ile)
c.1097G>T (p.Ser366Ile)
c.1115G>T (p.Ser372Ile)
2g.127428682C>ACA348405881PROCc.1122C>A (p.Ser374Arg)
c.446C>A
c.1224C>A (p.Ser408Arg)
c.1305C>A (p.Ser435Arg)
c.1287C>A (p.Ser429Arg)
c.1185C>A (p.Ser395Arg)
n.1332-418G>T
c.1365C>A (p.Ser455Arg)
c.1467C>A (p.Ser489Arg)
c.1407C>A (p.Ser469Arg)
n.3607-418G>T
n.4043-418G>T
c.1290C>A (p.Ser430Arg)
c.1308C>A (p.Ser436Arg)
c.1065C>A (p.Ser355Arg)
c.1098C>A (p.Ser366Arg)
c.1116C>A (p.Ser372Arg)
2g.127428682C=CA1286884587PROCc.1122C= (p.Ser374=)
c.446C=
c.1224C= (p.Ser408=)
c.1305C= (p.Ser435=)
c.1287C= (p.Ser429=)
c.1185C= (p.Ser395=)
n.1332-418G=
c.1365C= (p.Ser455=)
c.1467C= (p.Ser489=)
c.1407C= (p.Ser469=)
n.3607-418G=
n.4043-418G=
c.1290C= (p.Ser430=)
c.1308C= (p.Ser436=)
c.1065C= (p.Ser355=)
c.1098C= (p.Ser366=)
c.1116C= (p.Ser372=)
2g.127428682C>GCA348405882PROCc.1122C>G (p.Ser374Arg)
c.446C>G
c.1224C>G (p.Ser408Arg)
c.1305C>G (p.Ser435Arg)
c.1287C>G (p.Ser429Arg)
c.1185C>G (p.Ser395Arg)
n.1332-418G>C
c.1365C>G (p.Ser455Arg)
c.1467C>G (p.Ser489Arg)
c.1407C>G (p.Ser469Arg)
n.3607-418G>C
n.4043-418G>C
c.1290C>G (p.Ser430Arg)
c.1308C>G (p.Ser436Arg)
c.1065C>G (p.Ser355Arg)
c.1098C>G (p.Ser366Arg)
c.1116C>G (p.Ser372Arg)
2g.127428682C>TCA1859530PROCc.1122C>T (p.Ser374=)
c.446C>T
c.1224C>T (p.Ser408=)
c.1305C>T (p.Ser435=)
c.1287C>T (p.Ser429=)
c.1185C>T (p.Ser395=)
n.1332-418G>A
c.1365C>T (p.Ser455=)
c.1467C>T (p.Ser489=)
c.1407C>T (p.Ser469=)
n.3607-418G>A
n.4043-418G>A
c.1290C>T (p.Ser430=)
c.1308C>T (p.Ser436=)
c.1065C>T (p.Ser355=)
c.1098C>T (p.Ser366=)
c.1116C>T (p.Ser372=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127428683G>ACA1859531PROCc.1123G>A (p.Glu375Lys)
c.447G>A
c.1225G>A (p.Glu409Lys)
c.1306G>A (p.Glu436Lys)
c.1288G>A (p.Glu430Lys)
c.1186G>A (p.Glu396Lys)
n.1332-419C>T
c.1366G>A (p.Glu456Lys)
c.1468G>A (p.Glu490Lys)
c.1408G>A (p.Glu470Lys)
n.3607-419C>T
n.4043-419C>T
c.1291G>A (p.Glu431Lys)
c.1309G>A (p.Glu437Lys)
c.1066G>A (p.Glu356Lys)
c.1099G>A (p.Glu367Lys)
c.1117G>A (p.Glu373Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428683G>CCA348405885PROCc.1123G>C (p.Glu375Gln)
c.447G>C
c.1225G>C (p.Glu409Gln)
c.1306G>C (p.Glu436Gln)
c.1288G>C (p.Glu430Gln)
c.1186G>C (p.Glu396Gln)
n.1332-419C>G
c.1366G>C (p.Glu456Gln)
c.1468G>C (p.Glu490Gln)
c.1408G>C (p.Glu470Gln)
n.3607-419C>G
n.4043-419C>G
c.1291G>C (p.Glu431Gln)
c.1309G>C (p.Glu437Gln)
c.1066G>C (p.Glu356Gln)
c.1099G>C (p.Glu367Gln)
c.1117G>C (p.Glu373Gln)
 dbSNP gnomAD v4
2g.127428683G=CA1286884588PROCc.1123G= (p.Glu375=)
c.447G=
c.1225G= (p.Glu409=)
c.1306G= (p.Glu436=)
c.1288G= (p.Glu430=)
c.1186G= (p.Glu396=)
n.1332-419C=
c.1366G= (p.Glu456=)
c.1468G= (p.Glu490=)
c.1408G= (p.Glu470=)
n.3607-419C=
n.4043-419C=
c.1291G= (p.Glu431=)
c.1309G= (p.Glu437=)
c.1066G= (p.Glu356=)
c.1099G= (p.Glu367=)
c.1117G= (p.Glu373=)
2g.127428683G>TCA348405886PROCc.1123G>T (p.Glu375Ter)
c.447G>T
c.1225G>T (p.Glu409Ter)
c.1306G>T (p.Glu436Ter)
c.1288G>T (p.Glu430Ter)
c.1186G>T (p.Glu396Ter)
n.1332-419C>A
c.1366G>T (p.Glu456Ter)
c.1468G>T (p.Glu490Ter)
c.1408G>T (p.Glu470Ter)
n.3607-419C>A
n.4043-419C>A
c.1291G>T (p.Glu431Ter)
c.1309G>T (p.Glu437Ter)
c.1066G>T (p.Glu356Ter)
c.1099G>T (p.Glu367Ter)
c.1117G>T (p.Glu373Ter)
2g.127428684A>CCA348405890PROCc.1124A>C (p.Glu375Ala)
c.448A>C
c.1226A>C (p.Glu409Ala)
c.1307A>C (p.Glu436Ala)
c.1289A>C (p.Glu430Ala)
c.1187A>C (p.Glu396Ala)
n.1332-420T>G
c.1367A>C (p.Glu456Ala)
c.1469A>C (p.Glu490Ala)
c.1409A>C (p.Glu470Ala)
n.3607-420T>G
n.4043-420T>G
c.1292A>C (p.Glu431Ala)
c.1310A>C (p.Glu437Ala)
c.1067A>C (p.Glu356Ala)
c.1100A>C (p.Glu367Ala)
c.1118A>C (p.Glu373Ala)
2g.127428684A>GCA348405891PROCc.1124A>G (p.Glu375Gly)
c.448A>G
c.1226A>G (p.Glu409Gly)
c.1307A>G (p.Glu436Gly)
c.1289A>G (p.Glu430Gly)
c.1187A>G (p.Glu396Gly)
n.1332-420T>C
c.1367A>G (p.Glu456Gly)
c.1469A>G (p.Glu490Gly)
c.1409A>G (p.Glu470Gly)
n.3607-420T>C
n.4043-420T>C
c.1292A>G (p.Glu431Gly)
c.1310A>G (p.Glu437Gly)
c.1067A>G (p.Glu356Gly)
c.1100A>G (p.Glu367Gly)
c.1118A>G (p.Glu373Gly)
2g.127428684A>TCA348405893PROCc.1124A>T (p.Glu375Val)
c.448A>T
c.1226A>T (p.Glu409Val)
c.1307A>T (p.Glu436Val)
c.1289A>T (p.Glu430Val)
c.1187A>T (p.Glu396Val)
n.1332-420T>A
c.1367A>T (p.Glu456Val)
c.1469A>T (p.Glu490Val)
c.1409A>T (p.Glu470Val)
n.3607-420T>A
n.4043-420T>A
c.1292A>T (p.Glu431Val)
c.1310A>T (p.Glu437Val)
c.1067A>T (p.Glu356Val)
c.1100A>T (p.Glu367Val)
c.1118A>T (p.Glu373Val)
2g.127428685G>ACA428873195PROCc.1125G>A (p.Glu375=)
c.449G>A
c.1227G>A (p.Glu409=)
c.1308G>A (p.Glu436=)
c.1290G>A (p.Glu430=)
c.1188G>A (p.Glu396=)
n.1332-421C>T
c.1368G>A (p.Glu456=)
c.1470G>A (p.Glu490=)
c.1410G>A (p.Glu470=)
n.3607-421C>T
n.4043-421C>T
c.1293G>A (p.Glu431=)
c.1311G>A (p.Glu437=)
c.1068G>A (p.Glu356=)
c.1101G>A (p.Glu367=)
c.1119G>A (p.Glu373=)
2g.127428685G>CCA348405895PROCc.1125G>C (p.Glu375Asp)
c.449G>C
c.1227G>C (p.Glu409Asp)
c.1308G>C (p.Glu436Asp)
c.1290G>C (p.Glu430Asp)
c.1188G>C (p.Glu396Asp)
n.1332-421C>G
c.1368G>C (p.Glu456Asp)
c.1470G>C (p.Glu490Asp)
c.1410G>C (p.Glu470Asp)
n.3607-421C>G
n.4043-421C>G
c.1293G>C (p.Glu431Asp)
c.1311G>C (p.Glu437Asp)
c.1068G>C (p.Glu356Asp)
c.1101G>C (p.Glu367Asp)
c.1119G>C (p.Glu373Asp)
 gnomAD v4
2g.127428685G>TCA348405897PROCc.1125G>T (p.Glu375Asp)
c.449G>T
c.1227G>T (p.Glu409Asp)
c.1308G>T (p.Glu436Asp)
c.1290G>T (p.Glu430Asp)
c.1188G>T (p.Glu396Asp)
n.1332-421C>A
c.1368G>T (p.Glu456Asp)
c.1470G>T (p.Glu490Asp)
c.1410G>T (p.Glu470Asp)
n.3607-421C>A
n.4043-421C>A
c.1293G>T (p.Glu431Asp)
c.1311G>T (p.Glu437Asp)
c.1068G>T (p.Glu356Asp)
c.1101G>T (p.Glu367Asp)
c.1119G>T (p.Glu373Asp)
2g.127428686G>ACA348405899PROCc.1126G>A (p.Val376Ile)
c.450G>A
c.1228G>A (p.Val410Ile)
c.1309G>A (p.Val437Ile)
c.1291G>A (p.Val431Ile)
c.1189G>A (p.Val397Ile)
n.1332-422C>T
c.1369G>A (p.Val457Ile)
c.1471G>A (p.Val491Ile)
c.1411G>A (p.Val471Ile)
n.3607-422C>T
n.4043-422C>T
c.1294G>A (p.Val432Ile)
c.1312G>A (p.Val438Ile)
c.1069G>A (p.Val357Ile)
c.1102G>A (p.Val368Ile)
c.1120G>A (p.Val374Ile)
 gnomAD v4
2g.127428686G>CCA348405903PROCc.1126G>C (p.Val376Leu)
c.450G>C
c.1228G>C (p.Val410Leu)
c.1309G>C (p.Val437Leu)
c.1291G>C (p.Val431Leu)
c.1189G>C (p.Val397Leu)
n.1332-422C>G
c.1369G>C (p.Val457Leu)
c.1471G>C (p.Val491Leu)
c.1411G>C (p.Val471Leu)
n.3607-422C>G
n.4043-422C>G
c.1294G>C (p.Val432Leu)
c.1312G>C (p.Val438Leu)
c.1069G>C (p.Val357Leu)
c.1102G>C (p.Val368Leu)
c.1120G>C (p.Val374Leu)
2g.127428686G>TCA348405901PROCc.1126G>T (p.Val376Phe)
c.450G>T
c.1228G>T (p.Val410Phe)
c.1309G>T (p.Val437Phe)
c.1291G>T (p.Val431Phe)
c.1189G>T (p.Val397Phe)
n.1332-422C>A
c.1369G>T (p.Val457Phe)
c.1471G>T (p.Val491Phe)
c.1411G>T (p.Val471Phe)
n.3607-422C>A
n.4043-422C>A
c.1294G>T (p.Val432Phe)
c.1312G>T (p.Val438Phe)
c.1069G>T (p.Val357Phe)
c.1102G>T (p.Val368Phe)
c.1120G>T (p.Val374Phe)
2g.127428687T>ACA348405905PROCc.1127T>A (p.Val376Asp)
c.451T>A
c.1229T>A (p.Val410Asp)
c.1310T>A (p.Val437Asp)
c.1292T>A (p.Val431Asp)
c.1190T>A (p.Val397Asp)
n.1332-423A>T
c.1370T>A (p.Val457Asp)
c.1472T>A (p.Val491Asp)
c.1412T>A (p.Val471Asp)
n.3607-423A>T
n.4043-423A>T
c.1295T>A (p.Val432Asp)
c.1313T>A (p.Val438Asp)
c.1070T>A (p.Val357Asp)
c.1103T>A (p.Val368Asp)
c.1121T>A (p.Val374Asp)
2g.127428687T>CCA348405906PROCc.1127T>C (p.Val376Ala)
c.451T>C
c.1229T>C (p.Val410Ala)
c.1310T>C (p.Val437Ala)
c.1292T>C (p.Val431Ala)
c.1190T>C (p.Val397Ala)
n.1332-423A>G
c.1370T>C (p.Val457Ala)
c.1472T>C (p.Val491Ala)
c.1412T>C (p.Val471Ala)
n.3607-423A>G
n.4043-423A>G
c.1295T>C (p.Val432Ala)
c.1313T>C (p.Val438Ala)
c.1070T>C (p.Val357Ala)
c.1103T>C (p.Val368Ala)
c.1121T>C (p.Val374Ala)
2g.127428687T>GCA348405908PROCc.1127T>G (p.Val376Gly)
c.451T>G
c.1229T>G (p.Val410Gly)
c.1310T>G (p.Val437Gly)
c.1292T>G (p.Val431Gly)
c.1190T>G (p.Val397Gly)
n.1332-423A>C
c.1370T>G (p.Val457Gly)
c.1472T>G (p.Val491Gly)
c.1412T>G (p.Val471Gly)
n.3607-423A>C
n.4043-423A>C
c.1295T>G (p.Val432Gly)
c.1313T>G (p.Val438Gly)
c.1070T>G (p.Val357Gly)
c.1103T>G (p.Val368Gly)
c.1121T>G (p.Val374Gly)
2g.127428688C>ACA428873196PROCc.1128C>A (p.Val376=)
c.452C>A
c.1230C>A (p.Val410=)
c.1311C>A (p.Val437=)
c.1293C>A (p.Val431=)
c.1191C>A (p.Val397=)
n.1332-424G>T
c.1371C>A (p.Val457=)
c.1473C>A (p.Val491=)
c.1413C>A (p.Val471=)
n.3607-424G>T
n.4043-424G>T
c.1296C>A (p.Val432=)
c.1314C>A (p.Val438=)
c.1071C>A (p.Val357=)
c.1104C>A (p.Val368=)
c.1122C>A (p.Val374=)
 dbSNP gnomAD v2 gnomAD v4
2g.127428688C=CA1286884589PROCc.1128C= (p.Val376=)
c.452C=
c.1230C= (p.Val410=)
c.1311C= (p.Val437=)
c.1293C= (p.Val431=)
c.1191C= (p.Val397=)
n.1332-424G=
c.1371C= (p.Val457=)
c.1473C= (p.Val491=)
c.1413C= (p.Val471=)
n.3607-424G=
n.4043-424G=
c.1296C= (p.Val432=)
c.1314C= (p.Val438=)
c.1071C= (p.Val357=)
c.1104C= (p.Val368=)
c.1122C= (p.Val374=)
2g.127428688C>GCA428873198PROCc.1128C>G (p.Val376=)
c.452C>G
c.1230C>G (p.Val410=)
c.1311C>G (p.Val437=)
c.1293C>G (p.Val431=)
c.1191C>G (p.Val397=)
n.1332-424G>C
c.1371C>G (p.Val457=)
c.1473C>G (p.Val491=)
c.1413C>G (p.Val471=)
n.3607-424G>C
n.4043-424G>C
c.1296C>G (p.Val432=)
c.1314C>G (p.Val438=)
c.1071C>G (p.Val357=)
c.1104C>G (p.Val368=)
c.1122C>G (p.Val374=)
2g.127428688C>TCA428873200PROCc.1128C>T (p.Val376=)
c.452C>T
c.1230C>T (p.Val410=)
c.1311C>T (p.Val437=)
c.1293C>T (p.Val431=)
c.1191C>T (p.Val397=)
n.1332-424G>A
c.1371C>T (p.Val457=)
c.1473C>T (p.Val491=)
c.1413C>T (p.Val471=)
n.3607-424G>A
n.4043-424G>A
c.1296C>T (p.Val432=)
c.1314C>T (p.Val438=)
c.1071C>T (p.Val357=)
c.1104C>T (p.Val368=)
c.1122C>T (p.Val374=)
2g.127428689A=CA1286884591PROCc.1129A= (p.Met377=)
c.453A=
c.1231A= (p.Met411=)
c.1312A= (p.Met438=)
c.1294A= (p.Met432=)
c.1192A= (p.Met398=)
n.1332-425T=
c.1372A= (p.Met458=)
c.1474A= (p.Met492=)
c.1414A= (p.Met472=)
n.3607-425T=
n.4043-425T=
c.1297A= (p.Met433=)
c.1315A= (p.Met439=)
c.1072A= (p.Met358=)
c.1105A= (p.Met369=)
c.1123A= (p.Met375=)
2g.127428689A>CCA348405910PROCc.1129A>C (p.Met377Leu)
c.453A>C
c.1231A>C (p.Met411Leu)
c.1312A>C (p.Met438Leu)
c.1294A>C (p.Met432Leu)
c.1192A>C (p.Met398Leu)
n.1332-425T>G
c.1372A>C (p.Met458Leu)
c.1474A>C (p.Met492Leu)
c.1414A>C (p.Met472Leu)
n.3607-425T>G
n.4043-425T>G
c.1297A>C (p.Met433Leu)
c.1315A>C (p.Met439Leu)
c.1072A>C (p.Met358Leu)
c.1105A>C (p.Met369Leu)
c.1123A>C (p.Met375Leu)
2g.127428689A>GCA348405912PROCc.1129A>G (p.Met377Val)
c.453A>G
c.1231A>G (p.Met411Val)
c.1312A>G (p.Met438Val)
c.1294A>G (p.Met432Val)
c.1192A>G (p.Met398Val)
n.1332-425T>C
c.1372A>G (p.Met458Val)
c.1474A>G (p.Met492Val)
c.1414A>G (p.Met472Val)
n.3607-425T>C
n.4043-425T>C
c.1297A>G (p.Met433Val)
c.1315A>G (p.Met439Val)
c.1072A>G (p.Met358Val)
c.1105A>G (p.Met369Val)
c.1123A>G (p.Met375Val)
 dbSNP gnomAD v3 gnomAD v4
2g.127428689A>TCA348405913PROCc.1129A>T (p.Met377Leu)
c.453A>T
c.1231A>T (p.Met411Leu)
c.1312A>T (p.Met438Leu)
c.1294A>T (p.Met432Leu)
c.1192A>T (p.Met398Leu)
n.1332-425T>A
c.1372A>T (p.Met458Leu)
c.1474A>T (p.Met492Leu)
c.1414A>T (p.Met472Leu)
n.3607-425T>A
n.4043-425T>A
c.1297A>T (p.Met433Leu)
c.1315A>T (p.Met439Leu)
c.1072A>T (p.Met358Leu)
c.1105A>T (p.Met369Leu)
c.1123A>T (p.Met375Leu)
2g.127428689_127428705delinsATGAGCAACATGGTGTCCA1286884590PROCc.1129_1145delinsATGAGCAACATGGTGTC (p.Met377=)
c.453_469delinsATGAGCAACATGGTGTC
c.1231_1247delinsATGAGCAACATGGTGTC (p.Met411=)
c.1312_1328delinsATGAGCAACATGGTGTC (p.Met438=)
c.1294_1310delinsATGAGCAACATGGTGTC (p.Met432=)
c.1192_1208delinsATGAGCAACATGGTGTC (p.Met398=)
n.1332-441_1332-425delinsGACACCATGTTGCTCAT
c.1372_1388delinsATGAGCAACATGGTGTC (p.Met458=)
c.1474_1490delinsATGAGCAACATGGTGTC (p.Met492=)
c.1414_1430delinsATGAGCAACATGGTGTC (p.Met472=)
n.3607-441_3607-425delinsGACACCATGTTGCTCAT
n.4043-441_4043-425delinsGACACCATGTTGCTCAT
c.1297_1313delinsATGAGCAACATGGTGTC (p.Met433=)
c.1315_1331delinsATGAGCAACATGGTGTC (p.Met439=)
c.1072_1088delinsATGAGCAACATGGTGTC (p.Met358=)
c.1105_1121delinsATGAGCAACATGGTGTC (p.Met369=)
c.1123_1139delinsATGAGCAACATGGTGTC (p.Met375=)
2g.127428690T>ACA348405916PROCc.1130T>A (p.Met377Lys)
c.454T>A
c.1232T>A (p.Met411Lys)
c.1313T>A (p.Met438Lys)
c.1295T>A (p.Met432Lys)
c.1193T>A (p.Met398Lys)
n.1332-426A>T
c.1373T>A (p.Met458Lys)
c.1475T>A (p.Met492Lys)
c.1415T>A (p.Met472Lys)
n.3607-426A>T
n.4043-426A>T
c.1298T>A (p.Met433Lys)
c.1316T>A (p.Met439Lys)
c.1073T>A (p.Met358Lys)
c.1106T>A (p.Met369Lys)
c.1124T>A (p.Met375Lys)
2g.127428690T>CCA348405917PROCc.1130T>C (p.Met377Thr)
c.454T>C
c.1232T>C (p.Met411Thr)
c.1313T>C (p.Met438Thr)
c.1295T>C (p.Met432Thr)
c.1193T>C (p.Met398Thr)
n.1332-426A>G
c.1373T>C (p.Met458Thr)
c.1475T>C (p.Met492Thr)
c.1415T>C (p.Met472Thr)
n.3607-426A>G
n.4043-426A>G
c.1298T>C (p.Met433Thr)
c.1316T>C (p.Met439Thr)
c.1073T>C (p.Met358Thr)
c.1106T>C (p.Met369Thr)
c.1124T>C (p.Met375Thr)
2g.127428690T>GCA348405918PROCc.1130T>G (p.Met377Arg)
c.454T>G
c.1232T>G (p.Met411Arg)
c.1313T>G (p.Met438Arg)
c.1295T>G (p.Met432Arg)
c.1193T>G (p.Met398Arg)
n.1332-426A>C
c.1373T>G (p.Met458Arg)
c.1475T>G (p.Met492Arg)
c.1415T>G (p.Met472Arg)
n.3607-426A>C
n.4043-426A>C
c.1298T>G (p.Met433Arg)
c.1316T>G (p.Met439Arg)
c.1073T>G (p.Met358Arg)
c.1106T>G (p.Met369Arg)
c.1124T>G (p.Met375Arg)
 gnomAD v4
2g.127428694_127428709delCA348405920PROCc.1134_1149del (p.Ser378ArgfsTer?)
c.458_473del
c.1236_1251del (p.Ser412ArgfsTer?)
c.1317_1332del (p.Ser439ArgfsTer?)
c.1299_1314del (p.Ser433ArgfsTer?)
c.1197_1212del (p.Ser399ArgfsTer?)
n.1332-441_1332-426del
c.1377_1392del (p.Ser459ArgfsTer?)
c.1479_1494del (p.Ser493ArgfsTer?)
c.1419_1434del (p.Ser473ArgfsTer?)
n.3607-441_3607-426del
n.4043-441_4043-426del
c.1302_1317del (p.Ser434ArgfsTer?)
c.1320_1335del (p.Ser440ArgfsTer?)
c.1077_1092del (p.Ser359ArgfsTer?)
c.1110_1125del (p.Ser370ArgfsTer?)
c.1128_1143del (p.Ser376ArgfsTer?)
 dbSNP
2g.127428691G>ACA1859532PROCc.1131G>A (p.Met377Ile)
c.455G>A
c.1233G>A (p.Met411Ile)
c.1314G>A (p.Met438Ile)
c.1296G>A (p.Met432Ile)
c.1194G>A (p.Met398Ile)
n.1332-427C>T
c.1374G>A (p.Met458Ile)
c.1476G>A (p.Met492Ile)
c.1416G>A (p.Met472Ile)
n.3607-427C>T
n.4043-427C>T
c.1299G>A (p.Met433Ile)
c.1317G>A (p.Met439Ile)
c.1074G>A (p.Met358Ile)
c.1107G>A (p.Met369Ile)
c.1125G>A (p.Met375Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428691G>CCA348405923PROCc.1131G>C (p.Met377Ile)
c.455G>C
c.1233G>C (p.Met411Ile)
c.1314G>C (p.Met438Ile)
c.1296G>C (p.Met432Ile)
c.1194G>C (p.Met398Ile)
n.1332-427C>G
c.1374G>C (p.Met458Ile)
c.1476G>C (p.Met492Ile)
c.1416G>C (p.Met472Ile)
n.3607-427C>G
n.4043-427C>G
c.1299G>C (p.Met433Ile)
c.1317G>C (p.Met439Ile)
c.1074G>C (p.Met358Ile)
c.1107G>C (p.Met369Ile)
c.1125G>C (p.Met375Ile)
 dbSNP gnomAD v4
2g.127428691G=CA1286884592PROCc.1131G= (p.Met377=)
c.455G=
c.1233G= (p.Met411=)
c.1314G= (p.Met438=)
c.1296G= (p.Met432=)
c.1194G= (p.Met398=)
n.1332-427C=
c.1374G= (p.Met458=)
c.1476G= (p.Met492=)
c.1416G= (p.Met472=)
n.3607-427C=
n.4043-427C=
c.1299G= (p.Met433=)
c.1317G= (p.Met439=)
c.1074G= (p.Met358=)
c.1107G= (p.Met369=)
c.1125G= (p.Met375=)
2g.127428691G>TCA348405924PROCc.1131G>T (p.Met377Ile)
c.455G>T
c.1233G>T (p.Met411Ile)
c.1314G>T (p.Met438Ile)
c.1296G>T (p.Met432Ile)
c.1194G>T (p.Met398Ile)
n.1332-427C>A
c.1374G>T (p.Met458Ile)
c.1476G>T (p.Met492Ile)
c.1416G>T (p.Met472Ile)
n.3607-427C>A
n.4043-427C>A
c.1299G>T (p.Met433Ile)
c.1317G>T (p.Met439Ile)
c.1074G>T (p.Met358Ile)
c.1107G>T (p.Met369Ile)
c.1125G>T (p.Met375Ile)
2g.127428692A=CA1286884593PROCc.1132A= (p.Ser378=)
c.456A=
c.1234A= (p.Ser412=)
c.1315A= (p.Ser439=)
c.1297A= (p.Ser433=)
c.1195A= (p.Ser399=)
n.1332-428T=
c.1375A= (p.Ser459=)
c.1477A= (p.Ser493=)
c.1417A= (p.Ser473=)
n.3607-428T=
n.4043-428T=
c.1300A= (p.Ser434=)
c.1318A= (p.Ser440=)
c.1075A= (p.Ser359=)
c.1108A= (p.Ser370=)
c.1126A= (p.Ser376=)
2g.127428692A>CCA348405928PROCc.1132A>C (p.Ser378Arg)
c.456A>C
c.1234A>C (p.Ser412Arg)
c.1315A>C (p.Ser439Arg)
c.1297A>C (p.Ser433Arg)
c.1195A>C (p.Ser399Arg)
n.1332-428T>G
c.1375A>C (p.Ser459Arg)
c.1477A>C (p.Ser493Arg)
c.1417A>C (p.Ser473Arg)
n.3607-428T>G
n.4043-428T>G
c.1300A>C (p.Ser434Arg)
c.1318A>C (p.Ser440Arg)
c.1075A>C (p.Ser359Arg)
c.1108A>C (p.Ser370Arg)
c.1126A>C (p.Ser376Arg)
2g.127428692A>GCA348405930PROCc.1132A>G (p.Ser378Gly)
c.456A>G
c.1234A>G (p.Ser412Gly)
c.1315A>G (p.Ser439Gly)
c.1297A>G (p.Ser433Gly)
c.1195A>G (p.Ser399Gly)
n.1332-428T>C
c.1375A>G (p.Ser459Gly)
c.1477A>G (p.Ser493Gly)
c.1417A>G (p.Ser473Gly)
n.3607-428T>C
n.4043-428T>C
c.1300A>G (p.Ser434Gly)
c.1318A>G (p.Ser440Gly)
c.1075A>G (p.Ser359Gly)
c.1108A>G (p.Ser370Gly)
c.1126A>G (p.Ser376Gly)
 dbSNP
2g.127428692A>TCA348405926PROCc.1132A>T (p.Ser378Cys)
c.456A>T
c.1234A>T (p.Ser412Cys)
c.1315A>T (p.Ser439Cys)
c.1297A>T (p.Ser433Cys)
c.1195A>T (p.Ser399Cys)
n.1332-428T>A
c.1375A>T (p.Ser459Cys)
c.1477A>T (p.Ser493Cys)
c.1417A>T (p.Ser473Cys)
n.3607-428T>A
n.4043-428T>A
c.1300A>T (p.Ser434Cys)
c.1318A>T (p.Ser440Cys)
c.1075A>T (p.Ser359Cys)
c.1108A>T (p.Ser370Cys)
c.1126A>T (p.Ser376Cys)
2g.127428693G>ACA348405933PROCc.1133G>A (p.Ser378Asn)
c.457G>A
c.1235G>A (p.Ser412Asn)
c.1316G>A (p.Ser439Asn)
c.1298G>A (p.Ser433Asn)
c.1196G>A (p.Ser399Asn)
n.1332-429C>T
c.1376G>A (p.Ser459Asn)
c.1478G>A (p.Ser493Asn)
c.1418G>A (p.Ser473Asn)
n.3607-429C>T
n.4043-429C>T
c.1301G>A (p.Ser434Asn)
c.1319G>A (p.Ser440Asn)
c.1076G>A (p.Ser359Asn)
c.1109G>A (p.Ser370Asn)
c.1127G>A (p.Ser376Asn)
2g.127428693G>CCA348405934PROCc.1133G>C (p.Ser378Thr)
c.457G>C
c.1235G>C (p.Ser412Thr)
c.1316G>C (p.Ser439Thr)
c.1298G>C (p.Ser433Thr)
c.1196G>C (p.Ser399Thr)
n.1332-429C>G
c.1376G>C (p.Ser459Thr)
c.1478G>C (p.Ser493Thr)
c.1418G>C (p.Ser473Thr)
n.3607-429C>G
n.4043-429C>G
c.1301G>C (p.Ser434Thr)
c.1319G>C (p.Ser440Thr)
c.1076G>C (p.Ser359Thr)
c.1109G>C (p.Ser370Thr)
c.1127G>C (p.Ser376Thr)
2g.127428693G>TCA348405936PROCc.1133G>T (p.Ser378Ile)
c.457G>T
c.1235G>T (p.Ser412Ile)
c.1316G>T (p.Ser439Ile)
c.1298G>T (p.Ser433Ile)
c.1196G>T (p.Ser399Ile)
n.1332-429C>A
c.1376G>T (p.Ser459Ile)
c.1478G>T (p.Ser493Ile)
c.1418G>T (p.Ser473Ile)
n.3607-429C>A
n.4043-429C>A
c.1301G>T (p.Ser434Ile)
c.1319G>T (p.Ser440Ile)
c.1076G>T (p.Ser359Ile)
c.1109G>T (p.Ser370Ile)
c.1127G>T (p.Ser376Ile)
2g.127428693dupCA645516638PROCc.1133dup (p.Ser378ArgfsTer6)
c.457dup
c.1235dup (p.Ser412ArgfsTer6)
c.1316dup (p.Ser439ArgfsTer6)
c.1298dup (p.Ser433ArgfsTer6)
c.1196dup (p.Ser399ArgfsTer6)
n.1332-429dup
c.1376dup (p.Ser459ArgfsTer6)
c.1478dup (p.Ser493ArgfsTer6)
c.1418dup (p.Ser473ArgfsTer6)
n.3607-429dup
n.4043-429dup
c.1301dup (p.Ser434ArgfsTer6)
c.1319dup (p.Ser440ArgfsTer6)
c.1076dup (p.Ser359ArgfsTer6)
c.1109dup (p.Ser370ArgfsTer6)
c.1127dup (p.Ser376ArgfsTer6)
 COSMIC COSMIC
2g.127428694C>ACA348405939PROCc.1134C>A (p.Ser378Arg)
c.458C>A
c.1236C>A (p.Ser412Arg)
c.1317C>A (p.Ser439Arg)
c.1299C>A (p.Ser433Arg)
c.1197C>A (p.Ser399Arg)
n.1332-430G>T
c.1377C>A (p.Ser459Arg)
c.1479C>A (p.Ser493Arg)
c.1419C>A (p.Ser473Arg)
n.3607-430G>T
n.4043-430G>T
c.1302C>A (p.Ser434Arg)
c.1320C>A (p.Ser440Arg)
c.1077C>A (p.Ser359Arg)
c.1110C>A (p.Ser370Arg)
c.1128C>A (p.Ser376Arg)
2g.127428694C>GCA348405940PROCc.1134C>G (p.Ser378Arg)
c.458C>G
c.1236C>G (p.Ser412Arg)
c.1317C>G (p.Ser439Arg)
c.1299C>G (p.Ser433Arg)
c.1197C>G (p.Ser399Arg)
n.1332-430G>C
c.1377C>G (p.Ser459Arg)
c.1479C>G (p.Ser493Arg)
c.1419C>G (p.Ser473Arg)
n.3607-430G>C
n.4043-430G>C
c.1302C>G (p.Ser434Arg)
c.1320C>G (p.Ser440Arg)
c.1077C>G (p.Ser359Arg)
c.1110C>G (p.Ser370Arg)
c.1128C>G (p.Ser376Arg)
 gnomAD v4
2g.127428694C>TCA428873237PROCc.1134C>T (p.Ser378=)
c.458C>T
c.1236C>T (p.Ser412=)
c.1317C>T (p.Ser439=)
c.1299C>T (p.Ser433=)
c.1197C>T (p.Ser399=)
n.1332-430G>A
c.1377C>T (p.Ser459=)
c.1479C>T (p.Ser493=)
c.1419C>T (p.Ser473=)
n.3607-430G>A
n.4043-430G>A
c.1302C>T (p.Ser434=)
c.1320C>T (p.Ser440=)
c.1077C>T (p.Ser359=)
c.1110C>T (p.Ser370=)
c.1128C>T (p.Ser376=)
2g.127428695A>CCA348405942PROCc.1135A>C (p.Asn379His)
c.459A>C
c.1237A>C (p.Asn413His)
c.1318A>C (p.Asn440His)
c.1300A>C (p.Asn434His)
c.1198A>C (p.Asn400His)
n.1332-431T>G
c.1378A>C (p.Asn460His)
c.1480A>C (p.Asn494His)
c.1420A>C (p.Asn474His)
n.3607-431T>G
n.4043-431T>G
c.1303A>C (p.Asn435His)
c.1321A>C (p.Asn441His)
c.1078A>C (p.Asn360His)
c.1111A>C (p.Asn371His)
c.1129A>C (p.Asn377His)
2g.127428695A>GCA348405944PROCc.1135A>G (p.Asn379Asp)
c.459A>G
c.1237A>G (p.Asn413Asp)
c.1318A>G (p.Asn440Asp)
c.1300A>G (p.Asn434Asp)
c.1198A>G (p.Asn400Asp)
n.1332-431T>C
c.1378A>G (p.Asn460Asp)
c.1480A>G (p.Asn494Asp)
c.1420A>G (p.Asn474Asp)
n.3607-431T>C
n.4043-431T>C
c.1303A>G (p.Asn435Asp)
c.1321A>G (p.Asn441Asp)
c.1078A>G (p.Asn360Asp)
c.1111A>G (p.Asn371Asp)
c.1129A>G (p.Asn377Asp)
2g.127428695A>TCA348405946PROCc.1135A>T (p.Asn379Tyr)
c.459A>T
c.1237A>T (p.Asn413Tyr)
c.1318A>T (p.Asn440Tyr)
c.1300A>T (p.Asn434Tyr)
c.1198A>T (p.Asn400Tyr)
n.1332-431T>A
c.1378A>T (p.Asn460Tyr)
c.1480A>T (p.Asn494Tyr)
c.1420A>T (p.Asn474Tyr)
n.3607-431T>A
n.4043-431T>A
c.1303A>T (p.Asn435Tyr)
c.1321A>T (p.Asn441Tyr)
c.1078A>T (p.Asn360Tyr)
c.1111A>T (p.Asn371Tyr)
c.1129A>T (p.Asn377Tyr)
2g.127428696A=CA1286884594PROCc.1136A= (p.Asn379=)
c.460A=
c.1238A= (p.Asn413=)
c.1319A= (p.Asn440=)
c.1301A= (p.Asn434=)
c.1199A= (p.Asn400=)
n.1332-432T=
c.1379A= (p.Asn460=)
c.1481A= (p.Asn494=)
c.1421A= (p.Asn474=)
n.3607-432T=
n.4043-432T=
c.1304A= (p.Asn435=)
c.1322A= (p.Asn441=)
c.1079A= (p.Asn360=)
c.1112A= (p.Asn371=)
c.1130A= (p.Asn377=)
2g.127428696A>CCA348405948PROCc.1136A>C (p.Asn379Thr)
c.460A>C
c.1238A>C (p.Asn413Thr)
c.1319A>C (p.Asn440Thr)
c.1301A>C (p.Asn434Thr)
c.1199A>C (p.Asn400Thr)
n.1332-432T>G
c.1379A>C (p.Asn460Thr)
c.1481A>C (p.Asn494Thr)
c.1421A>C (p.Asn474Thr)
n.3607-432T>G
n.4043-432T>G
c.1304A>C (p.Asn435Thr)
c.1322A>C (p.Asn441Thr)
c.1079A>C (p.Asn360Thr)
c.1112A>C (p.Asn371Thr)
c.1130A>C (p.Asn377Thr)
2g.127428696A>GCA348405951PROCc.1136A>G (p.Asn379Ser)
c.460A>G
c.1238A>G (p.Asn413Ser)
c.1319A>G (p.Asn440Ser)
c.1301A>G (p.Asn434Ser)
c.1199A>G (p.Asn400Ser)
n.1332-432T>C
c.1379A>G (p.Asn460Ser)
c.1481A>G (p.Asn494Ser)
c.1421A>G (p.Asn474Ser)
n.3607-432T>C
n.4043-432T>C
c.1304A>G (p.Asn435Ser)
c.1322A>G (p.Asn441Ser)
c.1079A>G (p.Asn360Ser)
c.1112A>G (p.Asn371Ser)
c.1130A>G (p.Asn377Ser)
2g.127428696A>TCA348405949PROCc.1136A>T (p.Asn379Ile)
c.460A>T
c.1238A>T (p.Asn413Ile)
c.1319A>T (p.Asn440Ile)
c.1301A>T (p.Asn434Ile)
c.1199A>T (p.Asn400Ile)
n.1332-432T>A
c.1379A>T (p.Asn460Ile)
c.1481A>T (p.Asn494Ile)
c.1421A>T (p.Asn474Ile)
n.3607-432T>A
n.4043-432T>A
c.1304A>T (p.Asn435Ile)
c.1322A>T (p.Asn441Ile)
c.1079A>T (p.Asn360Ile)
c.1112A>T (p.Asn371Ile)
c.1130A>T (p.Asn377Ile)
 dbSNP gnomAD v2
2g.127428697C>ACA348405952PROCc.1137C>A (p.Asn379Lys)
c.461C>A
c.1239C>A (p.Asn413Lys)
c.1320C>A (p.Asn440Lys)
c.1302C>A (p.Asn434Lys)
c.1200C>A (p.Asn400Lys)
n.1332-433G>T
c.1380C>A (p.Asn460Lys)
c.1482C>A (p.Asn494Lys)
c.1422C>A (p.Asn474Lys)
n.3607-433G>T
n.4043-433G>T
c.1305C>A (p.Asn435Lys)
c.1323C>A (p.Asn441Lys)
c.1080C>A (p.Asn360Lys)
c.1113C>A (p.Asn371Lys)
c.1131C>A (p.Asn377Lys)
2g.127428697C>GCA348405953PROCc.1137C>G (p.Asn379Lys)
c.461C>G
c.1239C>G (p.Asn413Lys)
c.1320C>G (p.Asn440Lys)
c.1302C>G (p.Asn434Lys)
c.1200C>G (p.Asn400Lys)
n.1332-433G>C
c.1380C>G (p.Asn460Lys)
c.1482C>G (p.Asn494Lys)
c.1422C>G (p.Asn474Lys)
n.3607-433G>C
n.4043-433G>C
c.1305C>G (p.Asn435Lys)
c.1323C>G (p.Asn441Lys)
c.1080C>G (p.Asn360Lys)
c.1113C>G (p.Asn371Lys)
c.1131C>G (p.Asn377Lys)
2g.127428697C>TCA428873255PROCc.1137C>T (p.Asn379=)
c.461C>T
c.1239C>T (p.Asn413=)
c.1320C>T (p.Asn440=)
c.1302C>T (p.Asn434=)
c.1200C>T (p.Asn400=)
n.1332-433G>A
c.1380C>T (p.Asn460=)
c.1482C>T (p.Asn494=)
c.1422C>T (p.Asn474=)
n.3607-433G>A
n.4043-433G>A
c.1305C>T (p.Asn435=)
c.1323C>T (p.Asn441=)
c.1080C>T (p.Asn360=)
c.1113C>T (p.Asn371=)
c.1131C>T (p.Asn377=)
2g.127428697_127428702dupCA2586969921PROCc.1137_1142dup (p.Val381_Ser382insMetVal)
c.461_466dup
c.1239_1244dup (p.Val415_Ser416insMetVal)
c.1320_1325dup (p.Val442_Ser443insMetVal)
c.1302_1307dup (p.Val436_Ser437insMetVal)
c.1200_1205dup (p.Val402_Ser403insMetVal)
n.1332-438_1332-433dup
c.1380_1385dup (p.Val462_Ser463insMetVal)
c.1482_1487dup (p.Val496_Ser497insMetVal)
c.1422_1427dup (p.Val476_Ser477insMetVal)
n.3607-438_3607-433dup
n.4043-438_4043-433dup
c.1305_1310dup (p.Val437_Ser438insMetVal)
c.1323_1328dup (p.Val443_Ser444insMetVal)
c.1080_1085dup (p.Val362_Ser363insMetVal)
c.1113_1118dup (p.Val373_Ser374insMetVal)
c.1131_1136dup (p.Val379_Ser380insMetVal)
2g.127428698A>CCA348405956PROCc.1138A>C (p.Met380Leu)
c.462A>C
c.1240A>C (p.Met414Leu)
c.1321A>C (p.Met441Leu)
c.1303A>C (p.Met435Leu)
c.1201A>C (p.Met401Leu)
n.1332-434T>G
c.1381A>C (p.Met461Leu)
c.1483A>C (p.Met495Leu)
c.1423A>C (p.Met475Leu)
n.3607-434T>G
n.4043-434T>G
c.1306A>C (p.Met436Leu)
c.1324A>C (p.Met442Leu)
c.1081A>C (p.Met361Leu)
c.1114A>C (p.Met372Leu)
c.1132A>C (p.Met378Leu)
2g.127428698A>GCA348405958PROCc.1138A>G (p.Met380Val)
c.462A>G
c.1240A>G (p.Met414Val)
c.1321A>G (p.Met441Val)
c.1303A>G (p.Met435Val)
c.1201A>G (p.Met401Val)
n.1332-434T>C
c.1381A>G (p.Met461Val)
c.1483A>G (p.Met495Val)
c.1423A>G (p.Met475Val)
n.3607-434T>C
n.4043-434T>C
c.1306A>G (p.Met436Val)
c.1324A>G (p.Met442Val)
c.1081A>G (p.Met361Val)
c.1114A>G (p.Met372Val)
c.1132A>G (p.Met378Val)
 gnomAD v4 COSMIC
2g.127428698A>TCA348405960PROCc.1138A>T (p.Met380Leu)
c.462A>T
c.1240A>T (p.Met414Leu)
c.1321A>T (p.Met441Leu)
c.1303A>T (p.Met435Leu)
c.1201A>T (p.Met401Leu)
n.1332-434T>A
c.1381A>T (p.Met461Leu)
c.1483A>T (p.Met495Leu)
c.1423A>T (p.Met475Leu)
n.3607-434T>A
n.4043-434T>A
c.1306A>T (p.Met436Leu)
c.1324A>T (p.Met442Leu)
c.1081A>T (p.Met361Leu)
c.1114A>T (p.Met372Leu)
c.1132A>T (p.Met378Leu)
2g.127428699T>ACA348405963PROCc.1139T>A (p.Met380Lys)
c.463T>A
c.1241T>A (p.Met414Lys)
c.1322T>A (p.Met441Lys)
c.1304T>A (p.Met435Lys)
c.1202T>A (p.Met401Lys)
n.1332-435A>T
c.1382T>A (p.Met461Lys)
c.1484T>A (p.Met495Lys)
c.1424T>A (p.Met475Lys)
n.3607-435A>T
n.4043-435A>T
c.1307T>A (p.Met436Lys)
c.1325T>A (p.Met442Lys)
c.1082T>A (p.Met361Lys)
c.1115T>A (p.Met372Lys)
c.1133T>A (p.Met378Lys)
2g.127428699T>CCA348405965PROCc.1139T>C (p.Met380Thr)
c.463T>C
c.1241T>C (p.Met414Thr)
c.1322T>C (p.Met441Thr)
c.1304T>C (p.Met435Thr)
c.1202T>C (p.Met401Thr)
n.1332-435A>G
c.1382T>C (p.Met461Thr)
c.1484T>C (p.Met495Thr)
c.1424T>C (p.Met475Thr)
n.3607-435A>G
n.4043-435A>G
c.1307T>C (p.Met436Thr)
c.1325T>C (p.Met442Thr)
c.1082T>C (p.Met361Thr)
c.1115T>C (p.Met372Thr)
c.1133T>C (p.Met378Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428699T>GCA348405964PROCc.1139T>G (p.Met380Arg)
c.463T>G
c.1241T>G (p.Met414Arg)
c.1322T>G (p.Met441Arg)
c.1304T>G (p.Met435Arg)
c.1202T>G (p.Met401Arg)
n.1332-435A>C
c.1382T>G (p.Met461Arg)
c.1484T>G (p.Met495Arg)
c.1424T>G (p.Met475Arg)
n.3607-435A>C
n.4043-435A>C
c.1307T>G (p.Met436Arg)
c.1325T>G (p.Met442Arg)
c.1082T>G (p.Met361Arg)
c.1115T>G (p.Met372Arg)
c.1133T>G (p.Met378Arg)
2g.127428699T=CA1286884595PROCc.1139T= (p.Met380=)
c.463T=
c.1241T= (p.Met414=)
c.1322T= (p.Met441=)
c.1304T= (p.Met435=)
c.1202T= (p.Met401=)
n.1332-435A=
c.1382T= (p.Met461=)
c.1484T= (p.Met495=)
c.1424T= (p.Met475=)
n.3607-435A=
n.4043-435A=
c.1307T= (p.Met436=)
c.1325T= (p.Met442=)
c.1082T= (p.Met361=)
c.1115T= (p.Met372=)
c.1133T= (p.Met378=)
2g.127428700G>ACA348405966PROCc.1140G>A (p.Met380Ile)
c.464G>A
c.1242G>A (p.Met414Ile)
c.1323G>A (p.Met441Ile)
c.1305G>A (p.Met435Ile)
c.1203G>A (p.Met401Ile)
n.1332-436C>T
c.1383G>A (p.Met461Ile)
c.1485G>A (p.Met495Ile)
c.1425G>A (p.Met475Ile)
n.3607-436C>T
n.4043-436C>T
c.1308G>A (p.Met436Ile)
c.1326G>A (p.Met442Ile)
c.1083G>A (p.Met361Ile)
c.1116G>A (p.Met372Ile)
c.1134G>A (p.Met378Ile)
 dbSNP
2g.127428700G>CCA348405968PROCc.1140G>C (p.Met380Ile)
c.464G>C
c.1242G>C (p.Met414Ile)
c.1323G>C (p.Met441Ile)
c.1305G>C (p.Met435Ile)
c.1203G>C (p.Met401Ile)
n.1332-436C>G
c.1383G>C (p.Met461Ile)
c.1485G>C (p.Met495Ile)
c.1425G>C (p.Met475Ile)
n.3607-436C>G
n.4043-436C>G
c.1308G>C (p.Met436Ile)
c.1326G>C (p.Met442Ile)
c.1083G>C (p.Met361Ile)
c.1116G>C (p.Met372Ile)
c.1134G>C (p.Met378Ile)
2g.127428700G=CA1286884596PROCc.1140G= (p.Met380=)
c.464G=
c.1242G= (p.Met414=)
c.1323G= (p.Met441=)
c.1305G= (p.Met435=)
c.1203G= (p.Met401=)
n.1332-436C=
c.1383G= (p.Met461=)
c.1485G= (p.Met495=)
c.1425G= (p.Met475=)
n.3607-436C=
n.4043-436C=
c.1308G= (p.Met436=)
c.1326G= (p.Met442=)
c.1083G= (p.Met361=)
c.1116G= (p.Met372=)
c.1134G= (p.Met378=)
2g.127428700G>TCA348405969PROCc.1140G>T (p.Met380Ile)
c.464G>T
c.1242G>T (p.Met414Ile)
c.1323G>T (p.Met441Ile)
c.1305G>T (p.Met435Ile)
c.1203G>T (p.Met401Ile)
n.1332-436C>A
c.1383G>T (p.Met461Ile)
c.1485G>T (p.Met495Ile)
c.1425G>T (p.Met475Ile)
n.3607-436C>A
n.4043-436C>A
c.1308G>T (p.Met436Ile)
c.1326G>T (p.Met442Ile)
c.1083G>T (p.Met361Ile)
c.1116G>T (p.Met372Ile)
c.1134G>T (p.Met378Ile)
2g.127428701G>ACA348405971PROCc.1141G>A (p.Val381Met)
c.465G>A
c.1243G>A (p.Val415Met)
c.1324G>A (p.Val442Met)
c.1306G>A (p.Val436Met)
c.1204G>A (p.Val402Met)
n.1332-437C>T
c.1384G>A (p.Val462Met)
c.1486G>A (p.Val496Met)
c.1426G>A (p.Val476Met)
n.3607-437C>T
n.4043-437C>T
c.1309G>A (p.Val437Met)
c.1327G>A (p.Val443Met)
c.1084G>A (p.Val362Met)
c.1117G>A (p.Val373Met)
c.1135G>A (p.Val379Met)
2g.127428701G>CCA348405973PROCc.1141G>C (p.Val381Leu)
c.465G>C
c.1243G>C (p.Val415Leu)
c.1324G>C (p.Val442Leu)
c.1306G>C (p.Val436Leu)
c.1204G>C (p.Val402Leu)
n.1332-437C>G
c.1384G>C (p.Val462Leu)
c.1486G>C (p.Val496Leu)
c.1426G>C (p.Val476Leu)
n.3607-437C>G
n.4043-437C>G
c.1309G>C (p.Val437Leu)
c.1327G>C (p.Val443Leu)
c.1084G>C (p.Val362Leu)
c.1117G>C (p.Val373Leu)
c.1135G>C (p.Val379Leu)
2g.127428701G>TCA348405975PROCc.1141G>T (p.Val381Leu)
c.465G>T
c.1243G>T (p.Val415Leu)
c.1324G>T (p.Val442Leu)
c.1306G>T (p.Val436Leu)
c.1204G>T (p.Val402Leu)
n.1332-437C>A
c.1384G>T (p.Val462Leu)
c.1486G>T (p.Val496Leu)
c.1426G>T (p.Val476Leu)
n.3607-437C>A
n.4043-437C>A
c.1309G>T (p.Val437Leu)
c.1327G>T (p.Val443Leu)
c.1084G>T (p.Val362Leu)
c.1117G>T (p.Val373Leu)
c.1135G>T (p.Val379Leu)
2g.127428702T>ACA348405977PROCc.1142T>A (p.Val381Glu)
c.466T>A
c.1244T>A (p.Val415Glu)
c.1325T>A (p.Val442Glu)
c.1307T>A (p.Val436Glu)
c.1205T>A (p.Val402Glu)
n.1332-438A>T
c.1385T>A (p.Val462Glu)
c.1487T>A (p.Val496Glu)
c.1427T>A (p.Val476Glu)
n.3607-438A>T
n.4043-438A>T
c.1310T>A (p.Val437Glu)
c.1328T>A (p.Val443Glu)
c.1085T>A (p.Val362Glu)
c.1118T>A (p.Val373Glu)
c.1136T>A (p.Val379Glu)
2g.127428702T>CCA348405979PROCc.1142T>C (p.Val381Ala)
c.466T>C
c.1244T>C (p.Val415Ala)
c.1325T>C (p.Val442Ala)
c.1307T>C (p.Val436Ala)
c.1205T>C (p.Val402Ala)
n.1332-438A>G
c.1385T>C (p.Val462Ala)
c.1487T>C (p.Val496Ala)
c.1427T>C (p.Val476Ala)
n.3607-438A>G
n.4043-438A>G
c.1310T>C (p.Val437Ala)
c.1328T>C (p.Val443Ala)
c.1085T>C (p.Val362Ala)
c.1118T>C (p.Val373Ala)
c.1136T>C (p.Val379Ala)
 ClinVar gnomAD v4
2g.127428702T>GCA348405981PROCc.1142T>G (p.Val381Gly)
c.466T>G
c.1244T>G (p.Val415Gly)
c.1325T>G (p.Val442Gly)
c.1307T>G (p.Val436Gly)
c.1205T>G (p.Val402Gly)
n.1332-438A>C
c.1385T>G (p.Val462Gly)
c.1487T>G (p.Val496Gly)
c.1427T>G (p.Val476Gly)
n.3607-438A>C
n.4043-438A>C
c.1310T>G (p.Val437Gly)
c.1328T>G (p.Val443Gly)
c.1085T>G (p.Val362Gly)
c.1118T>G (p.Val373Gly)
c.1136T>G (p.Val379Gly)
2g.127428703G>ACA428873290PROCc.1143G>A (p.Val381=)
c.467G>A
c.1245G>A (p.Val415=)
c.1326G>A (p.Val442=)
c.1308G>A (p.Val436=)
c.1206G>A (p.Val402=)
n.1332-439C>T
c.1386G>A (p.Val462=)
c.1488G>A (p.Val496=)
c.1428G>A (p.Val476=)
n.3607-439C>T
n.4043-439C>T
c.1311G>A (p.Val437=)
c.1329G>A (p.Val443=)
c.1086G>A (p.Val362=)
c.1119G>A (p.Val373=)
c.1137G>A (p.Val379=)
2g.127428703G>CCA428873292PROCc.1143G>C (p.Val381=)
c.467G>C
c.1245G>C (p.Val415=)
c.1326G>C (p.Val442=)
c.1308G>C (p.Val436=)
c.1206G>C (p.Val402=)
n.1332-439C>G
c.1386G>C (p.Val462=)
c.1488G>C (p.Val496=)
c.1428G>C (p.Val476=)
n.3607-439C>G
n.4043-439C>G
c.1311G>C (p.Val437=)
c.1329G>C (p.Val443=)
c.1086G>C (p.Val362=)
c.1119G>C (p.Val373=)
c.1137G>C (p.Val379=)
2g.127428703G>TCA428873295PROCc.1143G>T (p.Val381=)
c.467G>T
c.1245G>T (p.Val415=)
c.1326G>T (p.Val442=)
c.1308G>T (p.Val436=)
c.1206G>T (p.Val402=)
n.1332-439C>A
c.1386G>T (p.Val462=)
c.1488G>T (p.Val496=)
c.1428G>T (p.Val476=)
n.3607-439C>A
n.4043-439C>A
c.1311G>T (p.Val437=)
c.1329G>T (p.Val443=)
c.1086G>T (p.Val362=)
c.1119G>T (p.Val373=)
c.1137G>T (p.Val379=)
2g.127428704T>ACA348405982PROCc.1144T>A (p.Ser382Thr)
c.468T>A
c.1246T>A (p.Ser416Thr)
c.1327T>A (p.Ser443Thr)
c.1309T>A (p.Ser437Thr)
c.1207T>A (p.Ser403Thr)
n.1332-440A>T
c.1387T>A (p.Ser463Thr)
c.1489T>A (p.Ser497Thr)
c.1429T>A (p.Ser477Thr)
n.3607-440A>T
n.4043-440A>T
c.1312T>A (p.Ser438Thr)
c.1330T>A (p.Ser444Thr)
c.1087T>A (p.Ser363Thr)
c.1120T>A (p.Ser374Thr)
c.1138T>A (p.Ser380Thr)
2g.127428704T>CCA348405984PROCc.1144T>C (p.Ser382Pro)
c.468T>C
c.1246T>C (p.Ser416Pro)
c.1327T>C (p.Ser443Pro)
c.1309T>C (p.Ser437Pro)
c.1207T>C (p.Ser403Pro)
n.1332-440A>G
c.1387T>C (p.Ser463Pro)
c.1489T>C (p.Ser497Pro)
c.1429T>C (p.Ser477Pro)
n.3607-440A>G
n.4043-440A>G
c.1312T>C (p.Ser438Pro)
c.1330T>C (p.Ser444Pro)
c.1087T>C (p.Ser363Pro)
c.1120T>C (p.Ser374Pro)
c.1138T>C (p.Ser380Pro)
2g.127428704T>GCA348405986PROCc.1144T>G (p.Ser382Ala)
c.468T>G
c.1246T>G (p.Ser416Ala)
c.1327T>G (p.Ser443Ala)
c.1309T>G (p.Ser437Ala)
c.1207T>G (p.Ser403Ala)
n.1332-440A>C
c.1387T>G (p.Ser463Ala)
c.1489T>G (p.Ser497Ala)
c.1429T>G (p.Ser477Ala)
n.3607-440A>C
n.4043-440A>C
c.1312T>G (p.Ser438Ala)
c.1330T>G (p.Ser444Ala)
c.1087T>G (p.Ser363Ala)
c.1120T>G (p.Ser374Ala)
c.1138T>G (p.Ser380Ala)
2g.127428705C>ACA348405988PROCc.1145C>A (p.Ser382Tyr)
c.469C>A
c.1247C>A (p.Ser416Tyr)
c.1328C>A (p.Ser443Tyr)
c.1310C>A (p.Ser437Tyr)
c.1208C>A (p.Ser403Tyr)
n.1332-441G>T
c.1388C>A (p.Ser463Tyr)
c.1490C>A (p.Ser497Tyr)
c.1430C>A (p.Ser477Tyr)
n.3607-441G>T
n.4043-441G>T
c.1313C>A (p.Ser438Tyr)
c.1331C>A (p.Ser444Tyr)
c.1088C>A (p.Ser363Tyr)
c.1121C>A (p.Ser374Tyr)
c.1139C>A (p.Ser380Tyr)
 COSMIC COSMIC
2g.127428705C>GCA348405991PROCc.1145C>G (p.Ser382Cys)
c.469C>G
c.1247C>G (p.Ser416Cys)
c.1328C>G (p.Ser443Cys)
c.1310C>G (p.Ser437Cys)
c.1208C>G (p.Ser403Cys)
n.1332-441G>C
c.1388C>G (p.Ser463Cys)
c.1490C>G (p.Ser497Cys)
c.1430C>G (p.Ser477Cys)
n.3607-441G>C
n.4043-441G>C
c.1313C>G (p.Ser438Cys)
c.1331C>G (p.Ser444Cys)
c.1088C>G (p.Ser363Cys)
c.1121C>G (p.Ser374Cys)
c.1139C>G (p.Ser380Cys)
2g.127428705C>TCA348405989PROCc.1145C>T (p.Ser382Phe)
c.469C>T
c.1247C>T (p.Ser416Phe)
c.1328C>T (p.Ser443Phe)
c.1310C>T (p.Ser437Phe)
c.1208C>T (p.Ser403Phe)
n.1332-441G>A
c.1388C>T (p.Ser463Phe)
c.1490C>T (p.Ser497Phe)
c.1430C>T (p.Ser477Phe)
n.3607-441G>A
n.4043-441G>A
c.1313C>T (p.Ser438Phe)
c.1331C>T (p.Ser444Phe)
c.1088C>T (p.Ser363Phe)
c.1121C>T (p.Ser374Phe)
c.1139C>T (p.Ser380Phe)
2g.127428706T>ACA428873297PROCc.1146T>A (p.Ser382=)
c.470T>A
c.1248T>A (p.Ser416=)
c.1329T>A (p.Ser443=)
c.1311T>A (p.Ser437=)
c.1209T>A (p.Ser403=)
n.1332-442A>T
c.1389T>A (p.Ser463=)
c.1491T>A (p.Ser497=)
c.1431T>A (p.Ser477=)
n.3607-442A>T
n.4043-442A>T
c.1314T>A (p.Ser438=)
c.1332T>A (p.Ser444=)
c.1089T>A (p.Ser363=)
c.1122T>A (p.Ser374=)
c.1140T>A (p.Ser380=)
2g.127428706T>CCA428873298PROCc.1146T>C (p.Ser382=)
c.470T>C
c.1248T>C (p.Ser416=)
c.1329T>C (p.Ser443=)
c.1311T>C (p.Ser437=)
c.1209T>C (p.Ser403=)
n.1332-442A>G
c.1389T>C (p.Ser463=)
c.1491T>C (p.Ser497=)
c.1431T>C (p.Ser477=)
n.3607-442A>G
n.4043-442A>G
c.1314T>C (p.Ser438=)
c.1332T>C (p.Ser444=)
c.1089T>C (p.Ser363=)
c.1122T>C (p.Ser374=)
c.1140T>C (p.Ser380=)
 gnomAD v4
2g.127428706T>GCA428873299PROCc.1146T>G (p.Ser382=)
c.470T>G
c.1248T>G (p.Ser416=)
c.1329T>G (p.Ser443=)
c.1311T>G (p.Ser437=)
c.1209T>G (p.Ser403=)
n.1332-442A>C
c.1389T>G (p.Ser463=)
c.1491T>G (p.Ser497=)
c.1431T>G (p.Ser477=)
n.3607-442A>C
n.4043-442A>C
c.1314T>G (p.Ser438=)
c.1332T>G (p.Ser444=)
c.1089T>G (p.Ser363=)
c.1122T>G (p.Ser374=)
c.1140T>G (p.Ser380=)
2g.127428707G>ACA348405993PROCc.1147G>A (p.Glu383Lys)
c.471G>A
c.1249G>A (p.Glu417Lys)
c.1330G>A (p.Glu444Lys)
c.1312G>A (p.Glu438Lys)
c.1210G>A (p.Glu404Lys)
n.1332-443C>T
c.1390G>A (p.Glu464Lys)
c.1492G>A (p.Glu498Lys)
c.1432G>A (p.Glu478Lys)
n.3607-443C>T
n.4043-443C>T
c.1315G>A (p.Glu439Lys)
c.1333G>A (p.Glu445Lys)
c.1090G>A (p.Glu364Lys)
c.1123G>A (p.Glu375Lys)
c.1141G>A (p.Glu381Lys)
2g.127428707G>CCA348405994PROCc.1147G>C (p.Glu383Gln)
c.471G>C
c.1249G>C (p.Glu417Gln)
c.1330G>C (p.Glu444Gln)
c.1312G>C (p.Glu438Gln)
c.1210G>C (p.Glu404Gln)
n.1332-443C>G
c.1390G>C (p.Glu464Gln)
c.1492G>C (p.Glu498Gln)
c.1432G>C (p.Glu478Gln)
n.3607-443C>G
n.4043-443C>G
c.1315G>C (p.Glu439Gln)
c.1333G>C (p.Glu445Gln)
c.1090G>C (p.Glu364Gln)
c.1123G>C (p.Glu375Gln)
c.1141G>C (p.Glu381Gln)
2g.127428707G>TCA348405995PROCc.1147G>T (p.Glu383Ter)
c.471G>T
c.1249G>T (p.Glu417Ter)
c.1330G>T (p.Glu444Ter)
c.1312G>T (p.Glu438Ter)
c.1210G>T (p.Glu404Ter)
n.1332-443C>A
c.1390G>T (p.Glu464Ter)
c.1492G>T (p.Glu498Ter)
c.1432G>T (p.Glu478Ter)
n.3607-443C>A
n.4043-443C>A
c.1315G>T (p.Glu439Ter)
c.1333G>T (p.Glu445Ter)
c.1090G>T (p.Glu364Ter)
c.1123G>T (p.Glu375Ter)
c.1141G>T (p.Glu381Ter)
2g.127428708A=CA1286884597PROCc.1148A= (p.Glu383=)
c.472A=
c.1250A= (p.Glu417=)
c.1331A= (p.Glu444=)
c.1313A= (p.Glu438=)
c.1211A= (p.Glu404=)
n.1332-444T=
c.1391A= (p.Glu464=)
c.1493A= (p.Glu498=)
c.1433A= (p.Glu478=)
n.3607-444T=
n.4043-444T=
c.1316A= (p.Glu439=)
c.1334A= (p.Glu445=)
c.1091A= (p.Glu364=)
c.1124A= (p.Glu375=)
c.1142A= (p.Glu381=)
2g.127428708A>CCA348405998PROCc.1148A>C (p.Glu383Ala)
c.472A>C
c.1250A>C (p.Glu417Ala)
c.1331A>C (p.Glu444Ala)
c.1313A>C (p.Glu438Ala)
c.1211A>C (p.Glu404Ala)
n.1332-444T>G
c.1391A>C (p.Glu464Ala)
c.1493A>C (p.Glu498Ala)
c.1433A>C (p.Glu478Ala)
n.3607-444T>G
n.4043-444T>G
c.1316A>C (p.Glu439Ala)
c.1334A>C (p.Glu445Ala)
c.1091A>C (p.Glu364Ala)
c.1124A>C (p.Glu375Ala)
c.1142A>C (p.Glu381Ala)
2g.127428708A>GCA348405999PROCc.1148A>G (p.Glu383Gly)
c.472A>G
c.1250A>G (p.Glu417Gly)
c.1331A>G (p.Glu444Gly)
c.1313A>G (p.Glu438Gly)
c.1211A>G (p.Glu404Gly)
n.1332-444T>C
c.1391A>G (p.Glu464Gly)
c.1493A>G (p.Glu498Gly)
c.1433A>G (p.Glu478Gly)
n.3607-444T>C
n.4043-444T>C
c.1316A>G (p.Glu439Gly)
c.1334A>G (p.Glu445Gly)
c.1091A>G (p.Glu364Gly)
c.1124A>G (p.Glu375Gly)
c.1142A>G (p.Glu381Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428708A>TCA348406003PROCc.1148A>T (p.Glu383Val)
c.472A>T
c.1250A>T (p.Glu417Val)
c.1331A>T (p.Glu444Val)
c.1313A>T (p.Glu438Val)
c.1211A>T (p.Glu404Val)
n.1332-444T>A
c.1391A>T (p.Glu464Val)
c.1493A>T (p.Glu498Val)
c.1433A>T (p.Glu478Val)
n.3607-444T>A
n.4043-444T>A
c.1316A>T (p.Glu439Val)
c.1334A>T (p.Glu445Val)
c.1091A>T (p.Glu364Val)
c.1124A>T (p.Glu375Val)
c.1142A>T (p.Glu381Val)
 dbSNP
2g.127428709G>ACA428873307PROCc.1149G>A (p.Glu383=)
c.473G>A
c.1251G>A (p.Glu417=)
c.1332G>A (p.Glu444=)
c.1314G>A (p.Glu438=)
c.1212G>A (p.Glu404=)
n.1332-445C>T
c.1392G>A (p.Glu464=)
c.1494G>A (p.Glu498=)
c.1434G>A (p.Glu478=)
n.3607-445C>T
n.4043-445C>T
c.1317G>A (p.Glu439=)
c.1335G>A (p.Glu445=)
c.1092G>A (p.Glu364=)
c.1125G>A (p.Glu375=)
c.1143G>A (p.Glu381=)
2g.127428709G>CCA348406004PROCc.1149G>C (p.Glu383Asp)
c.473G>C
c.1251G>C (p.Glu417Asp)
c.1332G>C (p.Glu444Asp)
c.1314G>C (p.Glu438Asp)
c.1212G>C (p.Glu404Asp)
n.1332-445C>G
c.1392G>C (p.Glu464Asp)
c.1494G>C (p.Glu498Asp)
c.1434G>C (p.Glu478Asp)
n.3607-445C>G
n.4043-445C>G
c.1317G>C (p.Glu439Asp)
c.1335G>C (p.Glu445Asp)
c.1092G>C (p.Glu364Asp)
c.1125G>C (p.Glu375Asp)
c.1143G>C (p.Glu381Asp)
2g.127428709G>TCA348406008PROCc.1149G>T (p.Glu383Asp)
c.473G>T
c.1251G>T (p.Glu417Asp)
c.1332G>T (p.Glu444Asp)
c.1314G>T (p.Glu438Asp)
c.1212G>T (p.Glu404Asp)
n.1332-445C>A
c.1392G>T (p.Glu464Asp)
c.1494G>T (p.Glu498Asp)
c.1434G>T (p.Glu478Asp)
n.3607-445C>A
n.4043-445C>A
c.1317G>T (p.Glu439Asp)
c.1335G>T (p.Glu445Asp)
c.1092G>T (p.Glu364Asp)
c.1125G>T (p.Glu375Asp)
c.1143G>T (p.Glu381Asp)
2g.127428710A>CCA348406011PROCc.1150A>C (p.Asn384His)
c.474A>C
c.1252A>C (p.Asn418His)
c.1333A>C (p.Asn445His)
c.1315A>C (p.Asn439His)
c.1213A>C (p.Asn405His)
n.1332-446T>G
c.1393A>C (p.Asn465His)
c.1495A>C (p.Asn499His)
c.1435A>C (p.Asn479His)
n.3607-446T>G
n.4043-446T>G
c.1318A>C (p.Asn440His)
c.1336A>C (p.Asn446His)
c.1093A>C (p.Asn365His)
c.1126A>C (p.Asn376His)
c.1144A>C (p.Asn382His)
2g.127428710A>GCA348406013PROCc.1150A>G (p.Asn384Asp)
c.474A>G
c.1252A>G (p.Asn418Asp)
c.1333A>G (p.Asn445Asp)
c.1315A>G (p.Asn439Asp)
c.1213A>G (p.Asn405Asp)
n.1332-446T>C
c.1393A>G (p.Asn465Asp)
c.1495A>G (p.Asn499Asp)
c.1435A>G (p.Asn479Asp)
n.3607-446T>C
n.4043-446T>C
c.1318A>G (p.Asn440Asp)
c.1336A>G (p.Asn446Asp)
c.1093A>G (p.Asn365Asp)
c.1126A>G (p.Asn376Asp)
c.1144A>G (p.Asn382Asp)
2g.127428710A>TCA348406015PROCc.1150A>T (p.Asn384Tyr)
c.474A>T
c.1252A>T (p.Asn418Tyr)
c.1333A>T (p.Asn445Tyr)
c.1315A>T (p.Asn439Tyr)
c.1213A>T (p.Asn405Tyr)
n.1332-446T>A
c.1393A>T (p.Asn465Tyr)
c.1495A>T (p.Asn499Tyr)
c.1435A>T (p.Asn479Tyr)
n.3607-446T>A
n.4043-446T>A
c.1318A>T (p.Asn440Tyr)
c.1336A>T (p.Asn446Tyr)
c.1093A>T (p.Asn365Tyr)
c.1126A>T (p.Asn376Tyr)
c.1144A>T (p.Asn382Tyr)
 gnomAD v4
2g.127428711A>CCA348406017PROCc.1151A>C (p.Asn384Thr)
c.475A>C
c.1253A>C (p.Asn418Thr)
c.1334A>C (p.Asn445Thr)
c.1316A>C (p.Asn439Thr)
c.1214A>C (p.Asn405Thr)
n.1332-447T>G
c.1394A>C (p.Asn465Thr)
c.1496A>C (p.Asn499Thr)
c.1436A>C (p.Asn479Thr)
n.3607-447T>G
n.4043-447T>G
c.1319A>C (p.Asn440Thr)
c.1337A>C (p.Asn446Thr)
c.1094A>C (p.Asn365Thr)
c.1127A>C (p.Asn376Thr)
c.1145A>C (p.Asn382Thr)
2g.127428711A>GCA348406019PROCc.1151A>G (p.Asn384Ser)
c.475A>G
c.1253A>G (p.Asn418Ser)
c.1334A>G (p.Asn445Ser)
c.1316A>G (p.Asn439Ser)
c.1214A>G (p.Asn405Ser)
n.1332-447T>C
c.1394A>G (p.Asn465Ser)
c.1496A>G (p.Asn499Ser)
c.1436A>G (p.Asn479Ser)
n.3607-447T>C
n.4043-447T>C
c.1319A>G (p.Asn440Ser)
c.1337A>G (p.Asn446Ser)
c.1094A>G (p.Asn365Ser)
c.1127A>G (p.Asn376Ser)
c.1145A>G (p.Asn382Ser)
 gnomAD v4
2g.127428711A>TCA348406021PROCc.1151A>T (p.Asn384Ile)
c.475A>T
c.1253A>T (p.Asn418Ile)
c.1334A>T (p.Asn445Ile)
c.1316A>T (p.Asn439Ile)
c.1214A>T (p.Asn405Ile)
n.1332-447T>A
c.1394A>T (p.Asn465Ile)
c.1496A>T (p.Asn499Ile)
c.1436A>T (p.Asn479Ile)
n.3607-447T>A
n.4043-447T>A
c.1319A>T (p.Asn440Ile)
c.1337A>T (p.Asn446Ile)
c.1094A>T (p.Asn365Ile)
c.1127A>T (p.Asn376Ile)
c.1145A>T (p.Asn382Ile)
2g.127428712C>ACA348406023PROCc.1152C>A (p.Asn384Lys)
c.476C>A
c.1254C>A (p.Asn418Lys)
c.1335C>A (p.Asn445Lys)
c.1317C>A (p.Asn439Lys)
c.1215C>A (p.Asn405Lys)
n.1332-448G>T
c.1395C>A (p.Asn465Lys)
c.1497C>A (p.Asn499Lys)
c.1437C>A (p.Asn479Lys)
n.3607-448G>T
n.4043-448G>T
c.1320C>A (p.Asn440Lys)
c.1338C>A (p.Asn446Lys)
c.1095C>A (p.Asn365Lys)
c.1128C>A (p.Asn376Lys)
c.1146C>A (p.Asn382Lys)
2g.127428712C=CA1286884598PROCc.1152C= (p.Asn384=)
c.476C=
c.1254C= (p.Asn418=)
c.1335C= (p.Asn445=)
c.1317C= (p.Asn439=)
c.1215C= (p.Asn405=)
n.1332-448G=
c.1395C= (p.Asn465=)
c.1497C= (p.Asn499=)
c.1437C= (p.Asn479=)
n.3607-448G=
n.4043-448G=
c.1320C= (p.Asn440=)
c.1338C= (p.Asn446=)
c.1095C= (p.Asn365=)
c.1128C= (p.Asn376=)
c.1146C= (p.Asn382=)
2g.127428712C>GCA348406025PROCc.1152C>G (p.Asn384Lys)
c.476C>G
c.1254C>G (p.Asn418Lys)
c.1335C>G (p.Asn445Lys)
c.1317C>G (p.Asn439Lys)
c.1215C>G (p.Asn405Lys)
n.1332-448G>C
c.1395C>G (p.Asn465Lys)
c.1497C>G (p.Asn499Lys)
c.1437C>G (p.Asn479Lys)
n.3607-448G>C
n.4043-448G>C
c.1320C>G (p.Asn440Lys)
c.1338C>G (p.Asn446Lys)
c.1095C>G (p.Asn365Lys)
c.1128C>G (p.Asn376Lys)
c.1146C>G (p.Asn382Lys)
2g.127428712C>TCA428873317PROCc.1152C>T (p.Asn384=)
c.476C>T
c.1254C>T (p.Asn418=)
c.1335C>T (p.Asn445=)
c.1317C>T (p.Asn439=)
c.1215C>T (p.Asn405=)
n.1332-448G>A
c.1395C>T (p.Asn465=)
c.1497C>T (p.Asn499=)
c.1437C>T (p.Asn479=)
n.3607-448G>A
n.4043-448G>A
c.1320C>T (p.Asn440=)
c.1338C>T (p.Asn446=)
c.1095C>T (p.Asn365=)
c.1128C>T (p.Asn376=)
c.1146C>T (p.Asn382=)
 dbSNP gnomAD v3 gnomAD v4
2g.127428713A=CA1286884599PROCc.1153A= (p.Met385=)
c.477A=
c.1255A= (p.Met419=)
c.1336A= (p.Met446=)
c.1318A= (p.Met440=)
c.1216A= (p.Met406=)
n.1332-449T=
c.1396A= (p.Met466=)
c.1498A= (p.Met500=)
c.1438A= (p.Met480=)
n.3607-449T=
n.4043-449T=
c.1321A= (p.Met441=)
c.1339A= (p.Met447=)
c.1096A= (p.Met366=)
c.1129A= (p.Met377=)
c.1147A= (p.Met383=)
2g.127428713A>CCA348406027PROCc.1153A>C (p.Met385Leu)
c.477A>C
c.1255A>C (p.Met419Leu)
c.1336A>C (p.Met446Leu)
c.1318A>C (p.Met440Leu)
c.1216A>C (p.Met406Leu)
n.1332-449T>G
c.1396A>C (p.Met466Leu)
c.1498A>C (p.Met500Leu)
c.1438A>C (p.Met480Leu)
n.3607-449T>G
n.4043-449T>G
c.1321A>C (p.Met441Leu)
c.1339A>C (p.Met447Leu)
c.1096A>C (p.Met366Leu)
c.1129A>C (p.Met377Leu)
c.1147A>C (p.Met383Leu)
2g.127428713A>GCA348406029PROCc.1153A>G (p.Met385Val)
c.477A>G
c.1255A>G (p.Met419Val)
c.1336A>G (p.Met446Val)
c.1318A>G (p.Met440Val)
c.1216A>G (p.Met406Val)
n.1332-449T>C
c.1396A>G (p.Met466Val)
c.1498A>G (p.Met500Val)
c.1438A>G (p.Met480Val)
n.3607-449T>C
n.4043-449T>C
c.1321A>G (p.Met441Val)
c.1339A>G (p.Met447Val)
c.1096A>G (p.Met366Val)
c.1129A>G (p.Met377Val)
c.1147A>G (p.Met383Val)
 dbSNP gnomAD v2 gnomAD v4
2g.127428713A>TCA348406030PROCc.1153A>T (p.Met385Leu)
c.477A>T
c.1255A>T (p.Met419Leu)
c.1336A>T (p.Met446Leu)
c.1318A>T (p.Met440Leu)
c.1216A>T (p.Met406Leu)
n.1332-449T>A
c.1396A>T (p.Met466Leu)
c.1498A>T (p.Met500Leu)
c.1438A>T (p.Met480Leu)
n.3607-449T>A
n.4043-449T>A
c.1321A>T (p.Met441Leu)
c.1339A>T (p.Met447Leu)
c.1096A>T (p.Met366Leu)
c.1129A>T (p.Met377Leu)
c.1147A>T (p.Met383Leu)
2g.127428714T>ACA348406033PROCc.1154T>A (p.Met385Lys)
c.478T>A
c.1256T>A (p.Met419Lys)
c.1337T>A (p.Met446Lys)
c.1319T>A (p.Met440Lys)
c.1217T>A (p.Met406Lys)
n.1332-450A>T
c.1397T>A (p.Met466Lys)
c.1499T>A (p.Met500Lys)
c.1439T>A (p.Met480Lys)
n.3607-450A>T
n.4043-450A>T
c.1322T>A (p.Met441Lys)
c.1340T>A (p.Met447Lys)
c.1097T>A (p.Met366Lys)
c.1130T>A (p.Met377Lys)
c.1148T>A (p.Met383Lys)
2g.127428714T>CCA348406040PROCc.1154T>C (p.Met385Thr)
c.478T>C
c.1256T>C (p.Met419Thr)
c.1337T>C (p.Met446Thr)
c.1319T>C (p.Met440Thr)
c.1217T>C (p.Met406Thr)
n.1332-450A>G
c.1397T>C (p.Met466Thr)
c.1499T>C (p.Met500Thr)
c.1439T>C (p.Met480Thr)
n.3607-450A>G
n.4043-450A>G
c.1322T>C (p.Met441Thr)
c.1340T>C (p.Met447Thr)
c.1097T>C (p.Met366Thr)
c.1130T>C (p.Met377Thr)
c.1148T>C (p.Met383Thr)
 ClinVar dbSNP gnomAD v4
2g.127428714T>GCA348406042PROCc.1154T>G (p.Met385Arg)
c.478T>G
c.1256T>G (p.Met419Arg)
c.1337T>G (p.Met446Arg)
c.1319T>G (p.Met440Arg)
c.1217T>G (p.Met406Arg)
n.1332-450A>C
c.1397T>G (p.Met466Arg)
c.1499T>G (p.Met500Arg)
c.1439T>G (p.Met480Arg)
n.3607-450A>C
n.4043-450A>C
c.1322T>G (p.Met441Arg)
c.1340T>G (p.Met447Arg)
c.1097T>G (p.Met366Arg)
c.1130T>G (p.Met377Arg)
c.1148T>G (p.Met383Arg)
2g.127428714T=CA1286884600PROCc.1154T= (p.Met385=)
c.478T=
c.1256T= (p.Met419=)
c.1337T= (p.Met446=)
c.1319T= (p.Met440=)
c.1217T= (p.Met406=)
n.1332-450A=
c.1397T= (p.Met466=)
c.1499T= (p.Met500=)
c.1439T= (p.Met480=)
n.3607-450A=
n.4043-450A=
c.1322T= (p.Met441=)
c.1340T= (p.Met447=)
c.1097T= (p.Met366=)
c.1130T= (p.Met377=)
c.1148T= (p.Met383=)
2g.127428715G>ACA348406045PROCc.1155G>A (p.Met385Ile)
c.479G>A
c.1257G>A (p.Met419Ile)
c.1338G>A (p.Met446Ile)
c.1320G>A (p.Met440Ile)
c.1218G>A (p.Met406Ile)
n.1332-451C>T
c.1398G>A (p.Met466Ile)
c.1500G>A (p.Met500Ile)
c.1440G>A (p.Met480Ile)
n.3607-451C>T
n.4043-451C>T
c.1323G>A (p.Met441Ile)
c.1341G>A (p.Met447Ile)
c.1098G>A (p.Met366Ile)
c.1131G>A (p.Met377Ile)
c.1149G>A (p.Met383Ile)
 ClinVar dbSNP gnomAD v4
2g.127428715G>CCA348406046PROCc.1155G>C (p.Met385Ile)
c.479G>C
c.1257G>C (p.Met419Ile)
c.1338G>C (p.Met446Ile)
c.1320G>C (p.Met440Ile)
c.1218G>C (p.Met406Ile)
n.1332-451C>G
c.1398G>C (p.Met466Ile)
c.1500G>C (p.Met500Ile)
c.1440G>C (p.Met480Ile)
n.3607-451C>G
n.4043-451C>G
c.1323G>C (p.Met441Ile)
c.1341G>C (p.Met447Ile)
c.1098G>C (p.Met366Ile)
c.1131G>C (p.Met377Ile)
c.1149G>C (p.Met383Ile)
2g.127428715G=CA1286884601PROCc.1155G= (p.Met385=)
c.479G=
c.1257G= (p.Met419=)
c.1338G= (p.Met446=)
c.1320G= (p.Met440=)
c.1218G= (p.Met406=)
n.1332-451C=
c.1398G= (p.Met466=)
c.1500G= (p.Met500=)
c.1440G= (p.Met480=)
n.3607-451C=
n.4043-451C=
c.1323G= (p.Met441=)
c.1341G= (p.Met447=)
c.1098G= (p.Met366=)
c.1131G= (p.Met377=)
c.1149G= (p.Met383=)
2g.127428715G>TCA348406047PROCc.1155G>T (p.Met385Ile)
c.479G>T
c.1257G>T (p.Met419Ile)
c.1338G>T (p.Met446Ile)
c.1320G>T (p.Met440Ile)
c.1218G>T (p.Met406Ile)
n.1332-451C>A
c.1398G>T (p.Met466Ile)
c.1500G>T (p.Met500Ile)
c.1440G>T (p.Met480Ile)
n.3607-451C>A
n.4043-451C>A
c.1323G>T (p.Met441Ile)
c.1341G>T (p.Met447Ile)
c.1098G>T (p.Met366Ile)
c.1131G>T (p.Met377Ile)
c.1149G>T (p.Met383Ile)
2g.127428716C>ACA348406049PROCc.1156C>A (p.Leu386Met)
c.480C>A
c.1258C>A (p.Leu420Met)
c.1339C>A (p.Leu447Met)
c.1321C>A (p.Leu441Met)
c.1219C>A (p.Leu407Met)
n.1332-452G>T
c.1399C>A (p.Leu467Met)
c.1501C>A (p.Leu501Met)
c.1441C>A (p.Leu481Met)
n.3607-452G>T
n.4043-452G>T
c.1324C>A (p.Leu442Met)
c.1342C>A (p.Leu448Met)
c.1099C>A (p.Leu367Met)
c.1132C>A (p.Leu378Met)
c.1150C>A (p.Leu384Met)
2g.127428716C=CA1286884602PROCc.1156C= (p.Leu386=)
c.480C=
c.1258C= (p.Leu420=)
c.1339C= (p.Leu447=)
c.1321C= (p.Leu441=)
c.1219C= (p.Leu407=)
n.1332-452G=
c.1399C= (p.Leu467=)
c.1501C= (p.Leu501=)
c.1441C= (p.Leu481=)
n.3607-452G=
n.4043-452G=
c.1324C= (p.Leu442=)
c.1342C= (p.Leu448=)
c.1099C= (p.Leu367=)
c.1132C= (p.Leu378=)
c.1150C= (p.Leu384=)
2g.127428716C>GCA348406050PROCc.1156C>G (p.Leu386Val)
c.480C>G
c.1258C>G (p.Leu420Val)
c.1339C>G (p.Leu447Val)
c.1321C>G (p.Leu441Val)
c.1219C>G (p.Leu407Val)
n.1332-452G>C
c.1399C>G (p.Leu467Val)
c.1501C>G (p.Leu501Val)
c.1441C>G (p.Leu481Val)
n.3607-452G>C
n.4043-452G>C
c.1324C>G (p.Leu442Val)
c.1342C>G (p.Leu448Val)
c.1099C>G (p.Leu367Val)
c.1132C>G (p.Leu378Val)
c.1150C>G (p.Leu384Val)
2g.127428716C>TCA428873344PROCc.1156C>T (p.Leu386=)
c.480C>T
c.1258C>T (p.Leu420=)
c.1339C>T (p.Leu447=)
c.1321C>T (p.Leu441=)
c.1219C>T (p.Leu407=)
n.1332-452G>A
c.1399C>T (p.Leu467=)
c.1501C>T (p.Leu501=)
c.1441C>T (p.Leu481=)
n.3607-452G>A
n.4043-452G>A
c.1324C>T (p.Leu442=)
c.1342C>T (p.Leu448=)
c.1099C>T (p.Leu367=)
c.1132C>T (p.Leu378=)
c.1150C>T (p.Leu384=)
 dbSNP gnomAD v2 gnomAD v4
2g.127428717T>ACA348406052PROCc.1157T>A (p.Leu386Gln)
c.481T>A
c.1259T>A (p.Leu420Gln)
c.1340T>A (p.Leu447Gln)
c.1322T>A (p.Leu441Gln)
c.1220T>A (p.Leu407Gln)
n.1332-453A>T
c.1400T>A (p.Leu467Gln)
c.1502T>A (p.Leu501Gln)
c.1442T>A (p.Leu481Gln)
n.3607-453A>T
n.4043-453A>T
c.1325T>A (p.Leu442Gln)
c.1343T>A (p.Leu448Gln)
c.1100T>A (p.Leu367Gln)
c.1133T>A (p.Leu378Gln)
c.1151T>A (p.Leu384Gln)
2g.127428717T>CCA348406056PROCc.1157T>C (p.Leu386Pro)
c.481T>C
c.1259T>C (p.Leu420Pro)
c.1340T>C (p.Leu447Pro)
c.1322T>C (p.Leu441Pro)
c.1220T>C (p.Leu407Pro)
n.1332-453A>G
c.1400T>C (p.Leu467Pro)
c.1502T>C (p.Leu501Pro)
c.1442T>C (p.Leu481Pro)
n.3607-453A>G
n.4043-453A>G
c.1325T>C (p.Leu442Pro)
c.1343T>C (p.Leu448Pro)
c.1100T>C (p.Leu367Pro)
c.1133T>C (p.Leu378Pro)
c.1151T>C (p.Leu384Pro)
2g.127428717T>GCA348406054PROCc.1157T>G (p.Leu386Arg)
c.481T>G
c.1259T>G (p.Leu420Arg)
c.1340T>G (p.Leu447Arg)
c.1322T>G (p.Leu441Arg)
c.1220T>G (p.Leu407Arg)
n.1332-453A>C
c.1400T>G (p.Leu467Arg)
c.1502T>G (p.Leu501Arg)
c.1442T>G (p.Leu481Arg)
n.3607-453A>C
n.4043-453A>C
c.1325T>G (p.Leu442Arg)
c.1343T>G (p.Leu448Arg)
c.1100T>G (p.Leu367Arg)
c.1133T>G (p.Leu378Arg)
c.1151T>G (p.Leu384Arg)
2g.127428718G>ACA428873372PROCc.1158G>A (p.Leu386=)
c.482G>A
c.1260G>A (p.Leu420=)
c.1341G>A (p.Leu447=)
c.1323G>A (p.Leu441=)
c.1221G>A (p.Leu407=)
n.1332-454C>T
c.1401G>A (p.Leu467=)
c.1503G>A (p.Leu501=)
c.1443G>A (p.Leu481=)
n.3607-454C>T
n.4043-454C>T
c.1326G>A (p.Leu442=)
c.1344G>A (p.Leu448=)
c.1101G>A (p.Leu367=)
c.1134G>A (p.Leu378=)
c.1152G>A (p.Leu384=)
2g.127428718G>CCA428873374PROCc.1158G>C (p.Leu386=)
c.482G>C
c.1260G>C (p.Leu420=)
c.1341G>C (p.Leu447=)
c.1323G>C (p.Leu441=)
c.1221G>C (p.Leu407=)
n.1332-454C>G
c.1401G>C (p.Leu467=)
c.1503G>C (p.Leu501=)
c.1443G>C (p.Leu481=)
n.3607-454C>G
n.4043-454C>G
c.1326G>C (p.Leu442=)
c.1344G>C (p.Leu448=)
c.1101G>C (p.Leu367=)
c.1134G>C (p.Leu378=)
c.1152G>C (p.Leu384=)
 dbSNP gnomAD v2 gnomAD v4
2g.127428718G=CA1286884603PROCc.1158G= (p.Leu386=)
c.482G=
c.1260G= (p.Leu420=)
c.1341G= (p.Leu447=)
c.1323G= (p.Leu441=)
c.1221G= (p.Leu407=)
n.1332-454C=
c.1401G= (p.Leu467=)
c.1503G= (p.Leu501=)
c.1443G= (p.Leu481=)
n.3607-454C=
n.4043-454C=
c.1326G= (p.Leu442=)
c.1344G= (p.Leu448=)
c.1101G= (p.Leu367=)
c.1134G= (p.Leu378=)
c.1152G= (p.Leu384=)
2g.127428718G>TCA428873373PROCc.1158G>T (p.Leu386=)
c.482G>T
c.1260G>T (p.Leu420=)
c.1341G>T (p.Leu447=)
c.1323G>T (p.Leu441=)
c.1221G>T (p.Leu407=)
n.1332-454C>A
c.1401G>T (p.Leu467=)
c.1503G>T (p.Leu501=)
c.1443G>T (p.Leu481=)
n.3607-454C>A
n.4043-454C>A
c.1326G>T (p.Leu442=)
c.1344G>T (p.Leu448=)
c.1101G>T (p.Leu367=)
c.1134G>T (p.Leu378=)
c.1152G>T (p.Leu384=)
2g.127428719T>ACA348406063PROCc.1159T>A (p.Cys387Ser)
c.483T>A
c.1261T>A (p.Cys421Ser)
c.1342T>A (p.Cys448Ser)
c.1324T>A (p.Cys442Ser)
c.1222T>A (p.Cys408Ser)
n.1332-455A>T
c.1402T>A (p.Cys468Ser)
c.1504T>A (p.Cys502Ser)
c.1444T>A (p.Cys482Ser)
n.3607-455A>T
n.4043-455A>T
c.1327T>A (p.Cys443Ser)
c.1345T>A (p.Cys449Ser)
c.1102T>A (p.Cys368Ser)
c.1135T>A (p.Cys379Ser)
c.1153T>A (p.Cys385Ser)
2g.127428719T>CCA348406067PROCc.1159T>C (p.Cys387Arg)
c.483T>C
c.1261T>C (p.Cys421Arg)
c.1342T>C (p.Cys448Arg)
c.1324T>C (p.Cys442Arg)
c.1222T>C (p.Cys408Arg)
n.1332-455A>G
c.1402T>C (p.Cys468Arg)
c.1504T>C (p.Cys502Arg)
c.1444T>C (p.Cys482Arg)
n.3607-455A>G
n.4043-455A>G
c.1327T>C (p.Cys443Arg)
c.1345T>C (p.Cys449Arg)
c.1102T>C (p.Cys368Arg)
c.1135T>C (p.Cys379Arg)
c.1153T>C (p.Cys385Arg)
2g.127428719T>GCA348406064PROCc.1159T>G (p.Cys387Gly)
c.483T>G
c.1261T>G (p.Cys421Gly)
c.1342T>G (p.Cys448Gly)
c.1324T>G (p.Cys442Gly)
c.1222T>G (p.Cys408Gly)
n.1332-455A>C
c.1402T>G (p.Cys468Gly)
c.1504T>G (p.Cys502Gly)
c.1444T>G (p.Cys482Gly)
n.3607-455A>C
n.4043-455A>C
c.1327T>G (p.Cys443Gly)
c.1345T>G (p.Cys449Gly)
c.1102T>G (p.Cys368Gly)
c.1135T>G (p.Cys379Gly)
c.1153T>G (p.Cys385Gly)
2g.127428720G>ACA348406069PROCc.1160G>A (p.Cys387Tyr)
c.484G>A
c.1262G>A (p.Cys421Tyr)
c.1343G>A (p.Cys448Tyr)
c.1325G>A (p.Cys442Tyr)
c.1223G>A (p.Cys408Tyr)
n.1332-456C>T
c.1403G>A (p.Cys468Tyr)
c.1505G>A (p.Cys502Tyr)
c.1445G>A (p.Cys482Tyr)
n.3607-456C>T
n.4043-456C>T
c.1328G>A (p.Cys443Tyr)
c.1346G>A (p.Cys449Tyr)
c.1103G>A (p.Cys368Tyr)
c.1136G>A (p.Cys379Tyr)
c.1154G>A (p.Cys385Tyr)
 gnomAD v4
2g.127428720G>CCA348406070PROCc.1160G>C (p.Cys387Ser)
c.484G>C
c.1262G>C (p.Cys421Ser)
c.1343G>C (p.Cys448Ser)
c.1325G>C (p.Cys442Ser)
c.1223G>C (p.Cys408Ser)
n.1332-456C>G
c.1403G>C (p.Cys468Ser)
c.1505G>C (p.Cys502Ser)
c.1445G>C (p.Cys482Ser)
n.3607-456C>G
n.4043-456C>G
c.1328G>C (p.Cys443Ser)
c.1346G>C (p.Cys449Ser)
c.1103G>C (p.Cys368Ser)
c.1136G>C (p.Cys379Ser)
c.1154G>C (p.Cys385Ser)
2g.127428720G>TCA348406071PROCc.1160G>T (p.Cys387Phe)
c.484G>T
c.1262G>T (p.Cys421Phe)
c.1343G>T (p.Cys448Phe)
c.1325G>T (p.Cys442Phe)
c.1223G>T (p.Cys408Phe)
n.1332-456C>A
c.1403G>T (p.Cys468Phe)
c.1505G>T (p.Cys502Phe)
c.1445G>T (p.Cys482Phe)
n.3607-456C>A
n.4043-456C>A
c.1328G>T (p.Cys443Phe)
c.1346G>T (p.Cys449Phe)
c.1103G>T (p.Cys368Phe)
c.1136G>T (p.Cys379Phe)
c.1154G>T (p.Cys385Phe)
2g.127428721T>ACA348406074PROCc.1161T>A (p.Cys387Ter)
c.485T>A
c.1263T>A (p.Cys421Ter)
c.1344T>A (p.Cys448Ter)
c.1326T>A (p.Cys442Ter)
c.1224T>A (p.Cys408Ter)
n.1332-457A>T
c.1404T>A (p.Cys468Ter)
c.1506T>A (p.Cys502Ter)
c.1446T>A (p.Cys482Ter)
n.3607-457A>T
n.4043-457A>T
c.1329T>A (p.Cys443Ter)
c.1347T>A (p.Cys449Ter)
c.1104T>A (p.Cys368Ter)
c.1137T>A (p.Cys379Ter)
c.1155T>A (p.Cys385Ter)
2g.127428721T>CCA1859533PROCc.1161T>C (p.Cys387=)
c.485T>C
c.1263T>C (p.Cys421=)
c.1344T>C (p.Cys448=)
c.1326T>C (p.Cys442=)
c.1224T>C (p.Cys408=)
n.1332-457A>G
c.1404T>C (p.Cys468=)
c.1506T>C (p.Cys502=)
c.1446T>C (p.Cys482=)
n.3607-457A>G
n.4043-457A>G
c.1329T>C (p.Cys443=)
c.1347T>C (p.Cys449=)
c.1104T>C (p.Cys368=)
c.1137T>C (p.Cys379=)
c.1155T>C (p.Cys385=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428721T>GCA348406077PROCc.1161T>G (p.Cys387Trp)
c.485T>G
c.1263T>G (p.Cys421Trp)
c.1344T>G (p.Cys448Trp)
c.1326T>G (p.Cys442Trp)
c.1224T>G (p.Cys408Trp)
n.1332-457A>C
c.1404T>G (p.Cys468Trp)
c.1506T>G (p.Cys502Trp)
c.1446T>G (p.Cys482Trp)
n.3607-457A>C
n.4043-457A>C
c.1329T>G (p.Cys443Trp)
c.1347T>G (p.Cys449Trp)
c.1104T>G (p.Cys368Trp)
c.1137T>G (p.Cys379Trp)
c.1155T>G (p.Cys385Trp)
 dbSNP gnomAD v2 gnomAD v4
2g.127428721T=CA1286884604PROCc.1161T= (p.Cys387=)
c.485T=
c.1263T= (p.Cys421=)
c.1344T= (p.Cys448=)
c.1326T= (p.Cys442=)
c.1224T= (p.Cys408=)
n.1332-457A=
c.1404T= (p.Cys468=)
c.1506T= (p.Cys502=)
c.1446T= (p.Cys482=)
n.3607-457A=
n.4043-457A=
c.1329T= (p.Cys443=)
c.1347T= (p.Cys449=)
c.1104T= (p.Cys368=)
c.1137T= (p.Cys379=)
c.1155T= (p.Cys385=)
2g.127428722G>ACA348406080PROCc.1162G>A (p.Ala388Thr)
c.486G>A
c.1264G>A (p.Ala422Thr)
c.1345G>A (p.Ala449Thr)
c.1327G>A (p.Ala443Thr)
c.1225G>A (p.Ala409Thr)
n.1332-458C>T
c.1405G>A (p.Ala469Thr)
c.1507G>A (p.Ala503Thr)
c.1447G>A (p.Ala483Thr)
n.3607-458C>T
n.4043-458C>T
c.1330G>A (p.Ala444Thr)
c.1348G>A (p.Ala450Thr)
c.1105G>A (p.Ala369Thr)
c.1138G>A (p.Ala380Thr)
c.1156G>A (p.Ala386Thr)
 gnomAD v4
2g.127428722G>CCA348406084PROCc.1162G>C (p.Ala388Pro)
c.486G>C
c.1264G>C (p.Ala422Pro)
c.1345G>C (p.Ala449Pro)
c.1327G>C (p.Ala443Pro)
c.1225G>C (p.Ala409Pro)
n.1332-458C>G
c.1405G>C (p.Ala469Pro)
c.1507G>C (p.Ala503Pro)
c.1447G>C (p.Ala483Pro)
n.3607-458C>G
n.4043-458C>G
c.1330G>C (p.Ala444Pro)
c.1348G>C (p.Ala450Pro)
c.1105G>C (p.Ala369Pro)
c.1138G>C (p.Ala380Pro)
c.1156G>C (p.Ala386Pro)
2g.127428722G>TCA348406086PROCc.1162G>T (p.Ala388Ser)
c.486G>T
c.1264G>T (p.Ala422Ser)
c.1345G>T (p.Ala449Ser)
c.1327G>T (p.Ala443Ser)
c.1225G>T (p.Ala409Ser)
n.1332-458C>A
c.1405G>T (p.Ala469Ser)
c.1507G>T (p.Ala503Ser)
c.1447G>T (p.Ala483Ser)
n.3607-458C>A
n.4043-458C>A
c.1330G>T (p.Ala444Ser)
c.1348G>T (p.Ala450Ser)
c.1105G>T (p.Ala369Ser)
c.1138G>T (p.Ala380Ser)
c.1156G>T (p.Ala386Ser)
 gnomAD v4
2g.127428723C>ACA348406087PROCc.1163C>A (p.Ala388Glu)
c.487C>A
c.1265C>A (p.Ala422Glu)
c.1346C>A (p.Ala449Glu)
c.1328C>A (p.Ala443Glu)
c.1226C>A (p.Ala409Glu)
n.1332-459G>T
c.1406C>A (p.Ala469Glu)
c.1508C>A (p.Ala503Glu)
c.1448C>A (p.Ala483Glu)
n.3607-459G>T
n.4043-459G>T
c.1331C>A (p.Ala444Glu)
c.1349C>A (p.Ala450Glu)
c.1106C>A (p.Ala369Glu)
c.1139C>A (p.Ala380Glu)
c.1157C>A (p.Ala386Glu)
2g.127428723C=CA1286884605PROCc.1163C= (p.Ala388=)
c.487C=
c.1265C= (p.Ala422=)
c.1346C= (p.Ala449=)
c.1328C= (p.Ala443=)
c.1226C= (p.Ala409=)
n.1332-459G=
c.1406C= (p.Ala469=)
c.1508C= (p.Ala503=)
c.1448C= (p.Ala483=)
n.3607-459G=
n.4043-459G=
c.1331C= (p.Ala444=)
c.1349C= (p.Ala450=)
c.1106C= (p.Ala369=)
c.1139C= (p.Ala380=)
c.1157C= (p.Ala386=)
2g.127428723C>GCA1859534PROCc.1163C>G (p.Ala388Gly)
c.487C>G
c.1265C>G (p.Ala422Gly)
c.1346C>G (p.Ala449Gly)
c.1328C>G (p.Ala443Gly)
c.1226C>G (p.Ala409Gly)
n.1332-459G>C
c.1406C>G (p.Ala469Gly)
c.1508C>G (p.Ala503Gly)
c.1448C>G (p.Ala483Gly)
n.3607-459G>C
n.4043-459G>C
c.1331C>G (p.Ala444Gly)
c.1349C>G (p.Ala450Gly)
c.1106C>G (p.Ala369Gly)
c.1139C>G (p.Ala380Gly)
c.1157C>G (p.Ala386Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428723C>TCA55351245PROCc.1163C>T (p.Ala388Val)
c.487C>T
c.1265C>T (p.Ala422Val)
c.1346C>T (p.Ala449Val)
c.1328C>T (p.Ala443Val)
c.1226C>T (p.Ala409Val)
n.1332-459G>A
c.1406C>T (p.Ala469Val)
c.1508C>T (p.Ala503Val)
c.1448C>T (p.Ala483Val)
n.3607-459G>A
n.4043-459G>A
c.1331C>T (p.Ala444Val)
c.1349C>T (p.Ala450Val)
c.1106C>T (p.Ala369Val)
c.1139C>T (p.Ala380Val)
c.1157C>T (p.Ala386Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.127428724G>ACA1859535PROCc.1164G>A (p.Ala388=)
c.488G>A
c.1266G>A (p.Ala422=)
c.1347G>A (p.Ala449=)
c.1329G>A (p.Ala443=)
c.1227G>A (p.Ala409=)
n.1332-460C>T
c.1407G>A (p.Ala469=)
c.1509G>A (p.Ala503=)
c.1449G>A (p.Ala483=)
n.3607-460C>T
n.4043-460C>T
c.1332G>A (p.Ala444=)
c.1350G>A (p.Ala450=)
c.1107G>A (p.Ala369=)
c.1140G>A (p.Ala380=)
c.1158G>A (p.Ala386=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428724G>CCA428873411PROCc.1164G>C (p.Ala388=)
c.488G>C
c.1266G>C (p.Ala422=)
c.1347G>C (p.Ala449=)
c.1329G>C (p.Ala443=)
c.1227G>C (p.Ala409=)
n.1332-460C>G
c.1407G>C (p.Ala469=)
c.1509G>C (p.Ala503=)
c.1449G>C (p.Ala483=)
n.3607-460C>G
n.4043-460C>G
c.1332G>C (p.Ala444=)
c.1350G>C (p.Ala450=)
c.1107G>C (p.Ala369=)
c.1140G>C (p.Ala380=)
c.1158G>C (p.Ala386=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428724G=CA1286884606PROCc.1164G= (p.Ala388=)
c.488G=
c.1266G= (p.Ala422=)
c.1347G= (p.Ala449=)
c.1329G= (p.Ala443=)
c.1227G= (p.Ala409=)
n.1332-460C=
c.1407G= (p.Ala469=)
c.1509G= (p.Ala503=)
c.1449G= (p.Ala483=)
n.3607-460C=
n.4043-460C=
c.1332G= (p.Ala444=)
c.1350G= (p.Ala450=)
c.1107G= (p.Ala369=)
c.1140G= (p.Ala380=)
c.1158G= (p.Ala386=)
2g.127428724G>TCA428873413PROCc.1164G>T (p.Ala388=)
c.488G>T
c.1266G>T (p.Ala422=)
c.1347G>T (p.Ala449=)
c.1329G>T (p.Ala443=)
c.1227G>T (p.Ala409=)
n.1332-460C>A
c.1407G>T (p.Ala469=)
c.1509G>T (p.Ala503=)
c.1449G>T (p.Ala483=)
n.3607-460C>A
n.4043-460C>A
c.1332G>T (p.Ala444=)
c.1350G>T (p.Ala450=)
c.1107G>T (p.Ala369=)
c.1140G>T (p.Ala380=)
c.1158G>T (p.Ala386=)
2g.127428725G>ACA348406092PROCc.1165G>A (p.Gly389Ser)
c.489G>A
c.1267G>A (p.Gly423Ser)
c.1348G>A (p.Gly450Ser)
c.1330G>A (p.Gly444Ser)
c.1228G>A (p.Gly410Ser)
n.1332-461C>T
c.1408G>A (p.Gly470Ser)
c.1510G>A (p.Gly504Ser)
c.1450G>A (p.Gly484Ser)
n.3607-461C>T
n.4043-461C>T
c.1333G>A (p.Gly445Ser)
c.1351G>A (p.Gly451Ser)
c.1108G>A (p.Gly370Ser)
c.1141G>A (p.Gly381Ser)
c.1159G>A (p.Gly387Ser)
2g.127428725G>CCA348406094PROCc.1165G>C (p.Gly389Arg)
c.489G>C
c.1267G>C (p.Gly423Arg)
c.1348G>C (p.Gly450Arg)
c.1330G>C (p.Gly444Arg)
c.1228G>C (p.Gly410Arg)
n.1332-461C>G
c.1408G>C (p.Gly470Arg)
c.1510G>C (p.Gly504Arg)
c.1450G>C (p.Gly484Arg)
n.3607-461C>G
n.4043-461C>G
c.1333G>C (p.Gly445Arg)
c.1351G>C (p.Gly451Arg)
c.1108G>C (p.Gly370Arg)
c.1141G>C (p.Gly381Arg)
c.1159G>C (p.Gly387Arg)
2g.127428725G>TCA348406095PROCc.1165G>T (p.Gly389Cys)
c.489G>T
c.1267G>T (p.Gly423Cys)
c.1348G>T (p.Gly450Cys)
c.1330G>T (p.Gly444Cys)
c.1228G>T (p.Gly410Cys)
n.1332-461C>A
c.1408G>T (p.Gly470Cys)
c.1510G>T (p.Gly504Cys)
c.1450G>T (p.Gly484Cys)
n.3607-461C>A
n.4043-461C>A
c.1333G>T (p.Gly445Cys)
c.1351G>T (p.Gly451Cys)
c.1108G>T (p.Gly370Cys)
c.1141G>T (p.Gly381Cys)
c.1159G>T (p.Gly387Cys)
2g.127428725_127428728delinsGGCACA1286884607PROCc.1165_1168delinsGGCA (p.Gly389=)
c.489_492delinsGGCA
c.1267_1270delinsGGCA (p.Gly423=)
c.1348_1351delinsGGCA (p.Gly450=)
c.1330_1333delinsGGCA (p.Gly444=)
c.1228_1231delinsGGCA (p.Gly410=)
n.1332-464_1332-461delinsTGCC
c.1408_1411delinsGGCA (p.Gly470=)
c.1510_1513delinsGGCA (p.Gly504=)
c.1450_1453delinsGGCA (p.Gly484=)
n.3607-464_3607-461delinsTGCC
n.4043-464_4043-461delinsTGCC
c.1333_1336delinsGGCA (p.Gly445=)
c.1351_1354delinsGGCA (p.Gly451=)
c.1108_1111delinsGGCA (p.Gly370=)
c.1141_1144delinsGGCA (p.Gly381=)
c.1159_1162delinsGGCA (p.Gly387=)
2g.127428726G>ACA348406096PROCc.1166G>A (p.Gly389Asp)
c.490G>A
c.1268G>A (p.Gly423Asp)
c.1349G>A (p.Gly450Asp)
c.1331G>A (p.Gly444Asp)
c.1229G>A (p.Gly410Asp)
n.1332-462C>T
c.1409G>A (p.Gly470Asp)
c.1511G>A (p.Gly504Asp)
c.1451G>A (p.Gly484Asp)
n.3607-462C>T
n.4043-462C>T
c.1334G>A (p.Gly445Asp)
c.1352G>A (p.Gly451Asp)
c.1109G>A (p.Gly370Asp)
c.1142G>A (p.Gly381Asp)
c.1160G>A (p.Gly387Asp)
2g.127428726G>CCA348406097PROCc.1166G>C (p.Gly389Ala)
c.490G>C
c.1268G>C (p.Gly423Ala)
c.1349G>C (p.Gly450Ala)
c.1331G>C (p.Gly444Ala)
c.1229G>C (p.Gly410Ala)
n.1332-462C>G
c.1409G>C (p.Gly470Ala)
c.1511G>C (p.Gly504Ala)
c.1451G>C (p.Gly484Ala)
n.3607-462C>G
n.4043-462C>G
c.1334G>C (p.Gly445Ala)
c.1352G>C (p.Gly451Ala)
c.1109G>C (p.Gly370Ala)
c.1142G>C (p.Gly381Ala)
c.1160G>C (p.Gly387Ala)
 ClinVar dbSNP gnomAD v4
2g.127428726G=CA1286884608PROCc.1166G= (p.Gly389=)
c.490G=
c.1268G= (p.Gly423=)
c.1349G= (p.Gly450=)
c.1331G= (p.Gly444=)
c.1229G= (p.Gly410=)
n.1332-462C=
c.1409G= (p.Gly470=)
c.1511G= (p.Gly504=)
c.1451G= (p.Gly484=)
n.3607-462C=
n.4043-462C=
c.1334G= (p.Gly445=)
c.1352G= (p.Gly451=)
c.1109G= (p.Gly370=)
c.1142G= (p.Gly381=)
c.1160G= (p.Gly387=)
2g.127428726G>TCA348406098PROCc.1166G>T (p.Gly389Val)
c.490G>T
c.1268G>T (p.Gly423Val)
c.1349G>T (p.Gly450Val)
c.1331G>T (p.Gly444Val)
c.1229G>T (p.Gly410Val)
n.1332-462C>A
c.1409G>T (p.Gly470Val)
c.1511G>T (p.Gly504Val)
c.1451G>T (p.Gly484Val)
n.3607-462C>A
n.4043-462C>A
c.1334G>T (p.Gly445Val)
c.1352G>T (p.Gly451Val)
c.1109G>T (p.Gly370Val)
c.1142G>T (p.Gly381Val)
c.1160G>T (p.Gly387Val)
2g.127428726_127428728delCA536067747PROCc.1166_1168del (p.Gly389_Ile390delinsVal)
c.490_492del
c.1268_1270del (p.Gly423_Ile424delinsVal)
c.1349_1351del (p.Gly450_Ile451delinsVal)
c.1331_1333del (p.Gly444_Ile445delinsVal)
c.1229_1231del (p.Gly410_Ile411delinsVal)
n.1332-464_1332-462del
c.1409_1411del (p.Gly470_Ile471delinsVal)
c.1511_1513del (p.Gly504_Ile505delinsVal)
c.1451_1453del (p.Gly484_Ile485delinsVal)
n.3607-464_3607-462del
n.4043-464_4043-462del
c.1334_1336del (p.Gly445_Ile446delinsVal)
c.1352_1354del (p.Gly451_Ile452delinsVal)
c.1109_1111del (p.Gly370_Ile371delinsVal)
c.1142_1144del (p.Gly381_Ile382delinsVal)
c.1160_1162del (p.Gly387_Ile388delinsVal)
 dbSNP gnomAD v2 gnomAD v4
2g.127428727C>ACA428873425PROCc.1167C>A (p.Gly389=)
c.491C>A
c.1269C>A (p.Gly423=)
c.1350C>A (p.Gly450=)
c.1332C>A (p.Gly444=)
c.1230C>A (p.Gly410=)
n.1332-463G>T
c.1410C>A (p.Gly470=)
c.1512C>A (p.Gly504=)
c.1452C>A (p.Gly484=)
n.3607-463G>T
n.4043-463G>T
c.1335C>A (p.Gly445=)
c.1353C>A (p.Gly451=)
c.1110C>A (p.Gly370=)
c.1143C>A (p.Gly381=)
c.1161C>A (p.Gly387=)
2g.127428727C>GCA428873426PROCc.1167C>G (p.Gly389=)
c.491C>G
c.1269C>G (p.Gly423=)
c.1350C>G (p.Gly450=)
c.1332C>G (p.Gly444=)
c.1230C>G (p.Gly410=)
n.1332-463G>C
c.1410C>G (p.Gly470=)
c.1512C>G (p.Gly504=)
c.1452C>G (p.Gly484=)
n.3607-463G>C
n.4043-463G>C
c.1335C>G (p.Gly445=)
c.1353C>G (p.Gly451=)
c.1110C>G (p.Gly370=)
c.1143C>G (p.Gly381=)
c.1161C>G (p.Gly387=)
2g.127428727C>TCA428873428PROCc.1167C>T (p.Gly389=)
c.491C>T
c.1269C>T (p.Gly423=)
c.1350C>T (p.Gly450=)
c.1332C>T (p.Gly444=)
c.1230C>T (p.Gly410=)
n.1332-463G>A
c.1410C>T (p.Gly470=)
c.1512C>T (p.Gly504=)
c.1452C>T (p.Gly484=)
n.3607-463G>A
n.4043-463G>A
c.1335C>T (p.Gly445=)
c.1353C>T (p.Gly451=)
c.1110C>T (p.Gly370=)
c.1143C>T (p.Gly381=)
c.1161C>T (p.Gly387=)
2g.127428728A>CCA348406104PROCc.1168A>C (p.Ile390Leu)
c.492A>C
c.1270A>C (p.Ile424Leu)
c.1351A>C (p.Ile451Leu)
c.1333A>C (p.Ile445Leu)
c.1231A>C (p.Ile411Leu)
n.1332-464T>G
c.1411A>C (p.Ile471Leu)
c.1513A>C (p.Ile505Leu)
c.1453A>C (p.Ile485Leu)
n.3607-464T>G
n.4043-464T>G
c.1336A>C (p.Ile446Leu)
c.1354A>C (p.Ile452Leu)
c.1111A>C (p.Ile371Leu)
c.1144A>C (p.Ile382Leu)
c.1162A>C (p.Ile388Leu)
2g.127428728A>GCA348406105PROCc.1168A>G (p.Ile390Val)
c.492A>G
c.1270A>G (p.Ile424Val)
c.1351A>G (p.Ile451Val)
c.1333A>G (p.Ile445Val)
c.1231A>G (p.Ile411Val)
n.1332-464T>C
c.1411A>G (p.Ile471Val)
c.1513A>G (p.Ile505Val)
c.1453A>G (p.Ile485Val)
n.3607-464T>C
n.4043-464T>C
c.1336A>G (p.Ile446Val)
c.1354A>G (p.Ile452Val)
c.1111A>G (p.Ile371Val)
c.1144A>G (p.Ile382Val)
c.1162A>G (p.Ile388Val)
2g.127428728A>TCA348406110PROCc.1168A>T (p.Ile390Phe)
c.492A>T
c.1270A>T (p.Ile424Phe)
c.1351A>T (p.Ile451Phe)
c.1333A>T (p.Ile445Phe)
c.1231A>T (p.Ile411Phe)
n.1332-464T>A
c.1411A>T (p.Ile471Phe)
c.1513A>T (p.Ile505Phe)
c.1453A>T (p.Ile485Phe)
n.3607-464T>A
n.4043-464T>A
c.1336A>T (p.Ile446Phe)
c.1354A>T (p.Ile452Phe)
c.1111A>T (p.Ile371Phe)
c.1144A>T (p.Ile382Phe)
c.1162A>T (p.Ile388Phe)
2g.127428729T>ACA55351258PROCc.1169T>A (p.Ile390Asn)
c.493T>A
c.1271T>A (p.Ile424Asn)
c.1352T>A (p.Ile451Asn)
c.1334T>A (p.Ile445Asn)
c.1232T>A (p.Ile411Asn)
n.1332-465A>T
c.1412T>A (p.Ile471Asn)
c.1514T>A (p.Ile505Asn)
c.1454T>A (p.Ile485Asn)
n.3607-465A>T
n.4043-465A>T
c.1337T>A (p.Ile446Asn)
c.1355T>A (p.Ile452Asn)
c.1112T>A (p.Ile371Asn)
c.1145T>A (p.Ile382Asn)
c.1163T>A (p.Ile388Asn)
 dbSNP gnomAD v4
2g.127428729T>CCA348406113PROCc.1169T>C (p.Ile390Thr)
c.493T>C
c.1271T>C (p.Ile424Thr)
c.1352T>C (p.Ile451Thr)
c.1334T>C (p.Ile445Thr)
c.1232T>C (p.Ile411Thr)
n.1332-465A>G
c.1412T>C (p.Ile471Thr)
c.1514T>C (p.Ile505Thr)
c.1454T>C (p.Ile485Thr)
n.3607-465A>G
n.4043-465A>G
c.1337T>C (p.Ile446Thr)
c.1355T>C (p.Ile452Thr)
c.1112T>C (p.Ile371Thr)
c.1145T>C (p.Ile382Thr)
c.1163T>C (p.Ile388Thr)
2g.127428729T>GCA348406114PROCc.1169T>G (p.Ile390Ser)
c.493T>G
c.1271T>G (p.Ile424Ser)
c.1352T>G (p.Ile451Ser)
c.1334T>G (p.Ile445Ser)
c.1232T>G (p.Ile411Ser)
n.1332-465A>C
c.1412T>G (p.Ile471Ser)
c.1514T>G (p.Ile505Ser)
c.1454T>G (p.Ile485Ser)
n.3607-465A>C
n.4043-465A>C
c.1337T>G (p.Ile446Ser)
c.1355T>G (p.Ile452Ser)
c.1112T>G (p.Ile371Ser)
c.1145T>G (p.Ile382Ser)
c.1163T>G (p.Ile388Ser)
2g.127428729T=CA1286884609PROCc.1169T= (p.Ile390=)
c.493T=
c.1271T= (p.Ile424=)
c.1352T= (p.Ile451=)
c.1334T= (p.Ile445=)
c.1232T= (p.Ile411=)
n.1332-465A=
c.1412T= (p.Ile471=)
c.1514T= (p.Ile505=)
c.1454T= (p.Ile485=)
n.3607-465A=
n.4043-465A=
c.1337T= (p.Ile446=)
c.1355T= (p.Ile452=)
c.1112T= (p.Ile371=)
c.1145T= (p.Ile382=)
c.1163T= (p.Ile388=)
2g.127428730C>ACA428873443PROCc.1170C>A (p.Ile390=)
c.494C>A
c.1272C>A (p.Ile424=)
c.1353C>A (p.Ile451=)
c.1335C>A (p.Ile445=)
c.1233C>A (p.Ile411=)
n.1332-466G>T
c.1413C>A (p.Ile471=)
c.1515C>A (p.Ile505=)
c.1455C>A (p.Ile485=)
n.3607-466G>T
n.4043-466G>T
c.1338C>A (p.Ile446=)
c.1356C>A (p.Ile452=)
c.1113C>A (p.Ile371=)
c.1146C>A (p.Ile382=)
c.1164C>A (p.Ile388=)
 dbSNP
2g.127428730C=CA1286884610PROCc.1170C= (p.Ile390=)
c.494C=
c.1272C= (p.Ile424=)
c.1353C= (p.Ile451=)
c.1335C= (p.Ile445=)
c.1233C= (p.Ile411=)
n.1332-466G=
c.1413C= (p.Ile471=)
c.1515C= (p.Ile505=)
c.1455C= (p.Ile485=)
n.3607-466G=
n.4043-466G=
c.1338C= (p.Ile446=)
c.1356C= (p.Ile452=)
c.1113C= (p.Ile371=)
c.1146C= (p.Ile382=)
c.1164C= (p.Ile388=)
2g.127428730C>GCA348406115PROCc.1170C>G (p.Ile390Met)
c.494C>G
c.1272C>G (p.Ile424Met)
c.1353C>G (p.Ile451Met)
c.1335C>G (p.Ile445Met)
c.1233C>G (p.Ile411Met)
n.1332-466G>C
c.1413C>G (p.Ile471Met)
c.1515C>G (p.Ile505Met)
c.1455C>G (p.Ile485Met)
n.3607-466G>C
n.4043-466G>C
c.1338C>G (p.Ile446Met)
c.1356C>G (p.Ile452Met)
c.1113C>G (p.Ile371Met)
c.1146C>G (p.Ile382Met)
c.1164C>G (p.Ile388Met)
2g.127428730C>TCA428873448PROCc.1170C>T (p.Ile390=)
c.494C>T
c.1272C>T (p.Ile424=)
c.1353C>T (p.Ile451=)
c.1335C>T (p.Ile445=)
c.1233C>T (p.Ile411=)
n.1332-466G>A
c.1413C>T (p.Ile471=)
c.1515C>T (p.Ile505=)
c.1455C>T (p.Ile485=)
n.3607-466G>A
n.4043-466G>A
c.1338C>T (p.Ile446=)
c.1356C>T (p.Ile452=)
c.1113C>T (p.Ile371=)
c.1146C>T (p.Ile382=)
c.1164C>T (p.Ile388=)
2g.127428731C>ACA348406116PROCc.1171C>A (p.Leu391Ile)
c.495C>A
c.1273C>A (p.Leu425Ile)
c.1354C>A (p.Leu452Ile)
c.1336C>A (p.Leu446Ile)
c.1234C>A (p.Leu412Ile)
n.1332-467G>T
c.1414C>A (p.Leu472Ile)
c.1516C>A (p.Leu506Ile)
c.1456C>A (p.Leu486Ile)
n.3607-467G>T
n.4043-467G>T
c.1339C>A (p.Leu447Ile)
c.1357C>A (p.Leu453Ile)
c.1114C>A (p.Leu372Ile)
c.1147C>A (p.Leu383Ile)
c.1165C>A (p.Leu389Ile)
 dbSNP gnomAD v4
2g.127428731C=CA1286884611PROCc.1171C= (p.Leu391=)
c.495C=
c.1273C= (p.Leu425=)
c.1354C= (p.Leu452=)
c.1336C= (p.Leu446=)
c.1234C= (p.Leu412=)
n.1332-467G=
c.1414C= (p.Leu472=)
c.1516C= (p.Leu506=)
c.1456C= (p.Leu486=)
n.3607-467G=
n.4043-467G=
c.1339C= (p.Leu447=)
c.1357C= (p.Leu453=)
c.1114C= (p.Leu372=)
c.1147C= (p.Leu383=)
c.1165C= (p.Leu389=)
2g.127428731C>GCA348406119PROCc.1171C>G (p.Leu391Val)
c.495C>G
c.1273C>G (p.Leu425Val)
c.1354C>G (p.Leu452Val)
c.1336C>G (p.Leu446Val)
c.1234C>G (p.Leu412Val)
n.1332-467G>C
c.1414C>G (p.Leu472Val)
c.1516C>G (p.Leu506Val)
c.1456C>G (p.Leu486Val)
n.3607-467G>C
n.4043-467G>C
c.1339C>G (p.Leu447Val)
c.1357C>G (p.Leu453Val)
c.1114C>G (p.Leu372Val)
c.1147C>G (p.Leu383Val)
c.1165C>G (p.Leu389Val)
 gnomAD v4
2g.127428731C>TCA348406117PROCc.1171C>T (p.Leu391Phe)
c.495C>T
c.1273C>T (p.Leu425Phe)
c.1354C>T (p.Leu452Phe)
c.1336C>T (p.Leu446Phe)
c.1234C>T (p.Leu412Phe)
n.1332-467G>A
c.1414C>T (p.Leu472Phe)
c.1516C>T (p.Leu506Phe)
c.1456C>T (p.Leu486Phe)
n.3607-467G>A
n.4043-467G>A
c.1339C>T (p.Leu447Phe)
c.1357C>T (p.Leu453Phe)
c.1114C>T (p.Leu372Phe)
c.1147C>T (p.Leu383Phe)
c.1165C>T (p.Leu389Phe)
2g.127428732T>ACA348406121PROCc.1172T>A (p.Leu391His)
c.496T>A
c.1274T>A (p.Leu425His)
c.1355T>A (p.Leu452His)
c.1337T>A (p.Leu446His)
c.1235T>A (p.Leu412His)
n.1332-468A>T
c.1415T>A (p.Leu472His)
c.1517T>A (p.Leu506His)
c.1457T>A (p.Leu486His)
n.3607-468A>T
n.4043-468A>T
c.1340T>A (p.Leu447His)
c.1358T>A (p.Leu453His)
c.1115T>A (p.Leu372His)
c.1148T>A (p.Leu383His)
c.1166T>A (p.Leu389His)
2g.127428732T>CCA348406122PROCc.1172T>C (p.Leu391Pro)
c.496T>C
c.1274T>C (p.Leu425Pro)
c.1355T>C (p.Leu452Pro)
c.1337T>C (p.Leu446Pro)
c.1235T>C (p.Leu412Pro)
n.1332-468A>G
c.1415T>C (p.Leu472Pro)
c.1517T>C (p.Leu506Pro)
c.1457T>C (p.Leu486Pro)
n.3607-468A>G
n.4043-468A>G
c.1340T>C (p.Leu447Pro)
c.1358T>C (p.Leu453Pro)
c.1115T>C (p.Leu372Pro)
c.1148T>C (p.Leu383Pro)
c.1166T>C (p.Leu389Pro)
2g.127428732T>GCA348406123PROCc.1172T>G (p.Leu391Arg)
c.496T>G
c.1274T>G (p.Leu425Arg)
c.1355T>G (p.Leu452Arg)
c.1337T>G (p.Leu446Arg)
c.1235T>G (p.Leu412Arg)
n.1332-468A>C
c.1415T>G (p.Leu472Arg)
c.1517T>G (p.Leu506Arg)
c.1457T>G (p.Leu486Arg)
n.3607-468A>C
n.4043-468A>C
c.1340T>G (p.Leu447Arg)
c.1358T>G (p.Leu453Arg)
c.1115T>G (p.Leu372Arg)
c.1148T>G (p.Leu383Arg)
c.1166T>G (p.Leu389Arg)

Number of alleles fetched