Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127428516_127428534delCA2660997778PROCc.956_974del (p.Cys319LeufsTer15)
c.280_298del
c.1058_1076del (p.Cys353LeufsTer15)
c.1139_1157del (p.Cys380LeufsTer15)
c.1121_1139del (p.Cys374LeufsTer15)
c.1019_1037del (p.Cys340LeufsTer15)
n.1332-268_1332-250del
c.1199_1217del (p.Cys400LeufsTer15)
c.1301_1319del (p.Cys434LeufsTer15)
c.1241_1259del (p.Cys414LeufsTer15)
n.3607-268_3607-250del
n.4043-268_4043-250del
c.1124_1142del (p.Cys375LeufsTer15)
c.1142_1160del (p.Cys381LeufsTer15)
c.899_917del (p.Cys300LeufsTer15)
c.932_950del (p.Cys311LeufsTer15)
c.950_968del (p.Cys317LeufsTer15)
 gnomAD v4
2g.127428529_127428539delCA2586969913PROCc.969_979del (p.Ser323ArgfsTer?)
c.293_303del
c.1071_1081del (p.Ser357ArgfsTer?)
c.1152_1162del (p.Ser384ArgfsTer?)
c.1134_1144del (p.Ser378ArgfsTer?)
c.1032_1042del (p.Ser344ArgfsTer?)
n.1332-272_1332-262del
c.1212_1222del (p.Ser404ArgfsTer?)
c.1314_1324del (p.Ser438ArgfsTer?)
c.1254_1264del (p.Ser418ArgfsTer?)
n.3607-272_3607-262del
n.4043-272_4043-262del
c.1137_1147del (p.Ser379ArgfsTer?)
c.1155_1165del (p.Ser385ArgfsTer?)
c.912_922del (p.Ser304ArgfsTer?)
c.945_955del (p.Ser315ArgfsTer?)
c.963_973del (p.Ser321ArgfsTer?)
2g.127428531G>ACA348405156PROCc.971G>A (p.Gly324Asp)
c.295G>A
c.1073G>A (p.Gly358Asp)
c.1154G>A (p.Gly385Asp)
c.1136G>A (p.Gly379Asp)
c.1034G>A (p.Gly345Asp)
n.1332-267C>T
c.1214G>A (p.Gly405Asp)
c.1316G>A (p.Gly439Asp)
c.1256G>A (p.Gly419Asp)
n.3607-267C>T
n.4043-267C>T
c.1139G>A (p.Gly380Asp)
c.1157G>A (p.Gly386Asp)
c.914G>A (p.Gly305Asp)
c.947G>A (p.Gly316Asp)
c.965G>A (p.Gly322Asp)
 gnomAD v4
2g.127428531G>CCA348405157PROCc.971G>C (p.Gly324Ala)
c.295G>C
c.1073G>C (p.Gly358Ala)
c.1154G>C (p.Gly385Ala)
c.1136G>C (p.Gly379Ala)
c.1034G>C (p.Gly345Ala)
n.1332-267C>G
c.1214G>C (p.Gly405Ala)
c.1316G>C (p.Gly439Ala)
c.1256G>C (p.Gly419Ala)
n.3607-267C>G
n.4043-267C>G
c.1139G>C (p.Gly380Ala)
c.1157G>C (p.Gly386Ala)
c.914G>C (p.Gly305Ala)
c.947G>C (p.Gly316Ala)
c.965G>C (p.Gly322Ala)
2g.127428531G>TCA348405160PROCc.971G>T (p.Gly324Val)
c.295G>T
c.1073G>T (p.Gly358Val)
c.1154G>T (p.Gly385Val)
c.1136G>T (p.Gly379Val)
c.1034G>T (p.Gly345Val)
n.1332-267C>A
c.1214G>T (p.Gly405Val)
c.1316G>T (p.Gly439Val)
c.1256G>T (p.Gly419Val)
n.3607-267C>A
n.4043-267C>A
c.1139G>T (p.Gly380Val)
c.1157G>T (p.Gly386Val)
c.914G>T (p.Gly305Val)
c.947G>T (p.Gly316Val)
c.965G>T (p.Gly322Val)
2g.127428532C>ACA428871714PROCc.972C>A (p.Gly324=)
c.296C>A
c.1074C>A (p.Gly358=)
c.1155C>A (p.Gly385=)
c.1137C>A (p.Gly379=)
c.1035C>A (p.Gly345=)
n.1332-268G>T
c.1215C>A (p.Gly405=)
c.1317C>A (p.Gly439=)
c.1257C>A (p.Gly419=)
n.3607-268G>T
n.4043-268G>T
c.1140C>A (p.Gly380=)
c.1158C>A (p.Gly386=)
c.915C>A (p.Gly305=)
c.948C>A (p.Gly316=)
c.966C>A (p.Gly322=)
 dbSNP gnomAD v3 gnomAD v4
2g.127428532C=CA1286884513PROCc.972C= (p.Gly324=)
c.296C=
c.1074C= (p.Gly358=)
c.1155C= (p.Gly385=)
c.1137C= (p.Gly379=)
c.1035C= (p.Gly345=)
n.1332-268G=
c.1215C= (p.Gly405=)
c.1317C= (p.Gly439=)
c.1257C= (p.Gly419=)
n.3607-268G=
n.4043-268G=
c.1140C= (p.Gly380=)
c.1158C= (p.Gly386=)
c.915C= (p.Gly305=)
c.948C= (p.Gly316=)
c.966C= (p.Gly322=)
2g.127428532C>GCA428871713PROCc.972C>G (p.Gly324=)
c.296C>G
c.1074C>G (p.Gly358=)
c.1155C>G (p.Gly385=)
c.1137C>G (p.Gly379=)
c.1035C>G (p.Gly345=)
n.1332-268G>C
c.1215C>G (p.Gly405=)
c.1317C>G (p.Gly439=)
c.1257C>G (p.Gly419=)
n.3607-268G>C
n.4043-268G>C
c.1140C>G (p.Gly380=)
c.1158C>G (p.Gly386=)
c.915C>G (p.Gly305=)
c.948C>G (p.Gly316=)
c.966C>G (p.Gly322=)
2g.127428532C>TCA428871716PROCc.972C>T (p.Gly324=)
c.296C>T
c.1074C>T (p.Gly358=)
c.1155C>T (p.Gly385=)
c.1137C>T (p.Gly379=)
c.1035C>T (p.Gly345=)
n.1332-268G>A
c.1215C>T (p.Gly405=)
c.1317C>T (p.Gly439=)
c.1257C>T (p.Gly419=)
n.3607-268G>A
n.4043-268G>A
c.1140C>T (p.Gly380=)
c.1158C>T (p.Gly386=)
c.915C>T (p.Gly305=)
c.948C>T (p.Gly316=)
c.966C>T (p.Gly322=)
2g.127428533C>ACA348405166PROCc.973C>A (p.Leu325Ile)
c.297C>A
c.1075C>A (p.Leu359Ile)
c.1156C>A (p.Leu386Ile)
c.1138C>A (p.Leu380Ile)
c.1036C>A (p.Leu346Ile)
n.1332-269G>T
c.1216C>A (p.Leu406Ile)
c.1318C>A (p.Leu440Ile)
c.1258C>A (p.Leu420Ile)
n.3607-269G>T
n.4043-269G>T
c.1141C>A (p.Leu381Ile)
c.1159C>A (p.Leu387Ile)
c.916C>A (p.Leu306Ile)
c.949C>A (p.Leu317Ile)
c.967C>A (p.Leu323Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.127428533C=CA1286884514PROCc.973C= (p.Leu325=)
c.297C=
c.1075C= (p.Leu359=)
c.1156C= (p.Leu386=)
c.1138C= (p.Leu380=)
c.1036C= (p.Leu346=)
n.1332-269G=
c.1216C= (p.Leu406=)
c.1318C= (p.Leu440=)
c.1258C= (p.Leu420=)
n.3607-269G=
n.4043-269G=
c.1141C= (p.Leu381=)
c.1159C= (p.Leu387=)
c.916C= (p.Leu306=)
c.949C= (p.Leu317=)
c.967C= (p.Leu323=)
2g.127428533C>GCA348405168PROCc.973C>G (p.Leu325Val)
c.297C>G
c.1075C>G (p.Leu359Val)
c.1156C>G (p.Leu386Val)
c.1138C>G (p.Leu380Val)
c.1036C>G (p.Leu346Val)
n.1332-269G>C
c.1216C>G (p.Leu406Val)
c.1318C>G (p.Leu440Val)
c.1258C>G (p.Leu420Val)
n.3607-269G>C
n.4043-269G>C
c.1141C>G (p.Leu381Val)
c.1159C>G (p.Leu387Val)
c.916C>G (p.Leu306Val)
c.949C>G (p.Leu317Val)
c.967C>G (p.Leu323Val)
2g.127428533C>TCA348405170PROCc.973C>T (p.Leu325Phe)
c.297C>T
c.1075C>T (p.Leu359Phe)
c.1156C>T (p.Leu386Phe)
c.1138C>T (p.Leu380Phe)
c.1036C>T (p.Leu346Phe)
n.1332-269G>A
c.1216C>T (p.Leu406Phe)
c.1318C>T (p.Leu440Phe)
c.1258C>T (p.Leu420Phe)
n.3607-269G>A
n.4043-269G>A
c.1141C>T (p.Leu381Phe)
c.1159C>T (p.Leu387Phe)
c.916C>T (p.Leu306Phe)
c.949C>T (p.Leu317Phe)
c.967C>T (p.Leu323Phe)
2g.127428534T>ACA348405185PROCc.974T>A (p.Leu325His)
c.298T>A
c.1076T>A (p.Leu359His)
c.1157T>A (p.Leu386His)
c.1139T>A (p.Leu380His)
c.1037T>A (p.Leu346His)
n.1332-270A>T
c.1217T>A (p.Leu406His)
c.1319T>A (p.Leu440His)
c.1259T>A (p.Leu420His)
n.3607-270A>T
n.4043-270A>T
c.1142T>A (p.Leu381His)
c.1160T>A (p.Leu387His)
c.917T>A (p.Leu306His)
c.950T>A (p.Leu317His)
c.968T>A (p.Leu323His)
2g.127428534T>CCA348405184PROCc.974T>C (p.Leu325Pro)
c.298T>C
c.1076T>C (p.Leu359Pro)
c.1157T>C (p.Leu386Pro)
c.1139T>C (p.Leu380Pro)
c.1037T>C (p.Leu346Pro)
n.1332-270A>G
c.1217T>C (p.Leu406Pro)
c.1319T>C (p.Leu440Pro)
c.1259T>C (p.Leu420Pro)
n.3607-270A>G
n.4043-270A>G
c.1142T>C (p.Leu381Pro)
c.1160T>C (p.Leu387Pro)
c.917T>C (p.Leu306Pro)
c.950T>C (p.Leu317Pro)
c.968T>C (p.Leu323Pro)
2g.127428534T>GCA348405182PROCc.974T>G (p.Leu325Arg)
c.298T>G
c.1076T>G (p.Leu359Arg)
c.1157T>G (p.Leu386Arg)
c.1139T>G (p.Leu380Arg)
c.1037T>G (p.Leu346Arg)
n.1332-270A>C
c.1217T>G (p.Leu406Arg)
c.1319T>G (p.Leu440Arg)
c.1259T>G (p.Leu420Arg)
n.3607-270A>C
n.4043-270A>C
c.1142T>G (p.Leu381Arg)
c.1160T>G (p.Leu387Arg)
c.917T>G (p.Leu306Arg)
c.950T>G (p.Leu317Arg)
c.968T>G (p.Leu323Arg)
 dbSNP
2g.127428534T=CA1286884515PROCc.974T= (p.Leu325=)
c.298T=
c.1076T= (p.Leu359=)
c.1157T= (p.Leu386=)
c.1139T= (p.Leu380=)
c.1037T= (p.Leu346=)
n.1332-270A=
c.1217T= (p.Leu406=)
c.1319T= (p.Leu440=)
c.1259T= (p.Leu420=)
n.3607-270A=
n.4043-270A=
c.1142T= (p.Leu381=)
c.1160T= (p.Leu387=)
c.917T= (p.Leu306=)
c.950T= (p.Leu317=)
c.968T= (p.Leu323=)
2g.127428535T>ACA428871730PROCc.975T>A (p.Leu325=)
c.299T>A
c.1077T>A (p.Leu359=)
c.1158T>A (p.Leu386=)
c.1140T>A (p.Leu380=)
c.1038T>A (p.Leu346=)
n.1332-271A>T
c.1218T>A (p.Leu406=)
c.1320T>A (p.Leu440=)
c.1260T>A (p.Leu420=)
n.3607-271A>T
n.4043-271A>T
c.1143T>A (p.Leu381=)
c.1161T>A (p.Leu387=)
c.918T>A (p.Leu306=)
c.951T>A (p.Leu317=)
c.969T>A (p.Leu323=)
2g.127428535T>CCA428871732PROCc.975T>C (p.Leu325=)
c.299T>C
c.1077T>C (p.Leu359=)
c.1158T>C (p.Leu386=)
c.1140T>C (p.Leu380=)
c.1038T>C (p.Leu346=)
n.1332-271A>G
c.1218T>C (p.Leu406=)
c.1320T>C (p.Leu440=)
c.1260T>C (p.Leu420=)
n.3607-271A>G
n.4043-271A>G
c.1143T>C (p.Leu381=)
c.1161T>C (p.Leu387=)
c.918T>C (p.Leu306=)
c.951T>C (p.Leu317=)
c.969T>C (p.Leu323=)
2g.127428535T>GCA428871733PROCc.975T>G (p.Leu325=)
c.299T>G
c.1077T>G (p.Leu359=)
c.1158T>G (p.Leu386=)
c.1140T>G (p.Leu380=)
c.1038T>G (p.Leu346=)
n.1332-271A>C
c.1218T>G (p.Leu406=)
c.1320T>G (p.Leu440=)
c.1260T>G (p.Leu420=)
n.3607-271A>C
n.4043-271A>C
c.1143T>G (p.Leu381=)
c.1161T>G (p.Leu387=)
c.918T>G (p.Leu306=)
c.951T>G (p.Leu317=)
c.969T>G (p.Leu323=)
2g.127428536G>ACA348405186PROCc.976G>A (p.Ala326Thr)
c.300G>A
c.1078G>A (p.Ala360Thr)
c.1159G>A (p.Ala387Thr)
c.1141G>A (p.Ala381Thr)
c.1039G>A (p.Ala347Thr)
n.1332-272C>T
c.1219G>A (p.Ala407Thr)
c.1321G>A (p.Ala441Thr)
c.1261G>A (p.Ala421Thr)
n.3607-272C>T
n.4043-272C>T
c.1144G>A (p.Ala382Thr)
c.1162G>A (p.Ala388Thr)
c.919G>A (p.Ala307Thr)
c.952G>A (p.Ala318Thr)
c.970G>A (p.Ala324Thr)
2g.127428536G>CCA348405188PROCc.976G>C (p.Ala326Pro)
c.300G>C
c.1078G>C (p.Ala360Pro)
c.1159G>C (p.Ala387Pro)
c.1141G>C (p.Ala381Pro)
c.1039G>C (p.Ala347Pro)
n.1332-272C>G
c.1219G>C (p.Ala407Pro)
c.1321G>C (p.Ala441Pro)
c.1261G>C (p.Ala421Pro)
n.3607-272C>G
n.4043-272C>G
c.1144G>C (p.Ala382Pro)
c.1162G>C (p.Ala388Pro)
c.919G>C (p.Ala307Pro)
c.952G>C (p.Ala318Pro)
c.970G>C (p.Ala324Pro)
2g.127428536G>TCA348405187PROCc.976G>T (p.Ala326Ser)
c.300G>T
c.1078G>T (p.Ala360Ser)
c.1159G>T (p.Ala387Ser)
c.1141G>T (p.Ala381Ser)
c.1039G>T (p.Ala347Ser)
n.1332-272C>A
c.1219G>T (p.Ala407Ser)
c.1321G>T (p.Ala441Ser)
c.1261G>T (p.Ala421Ser)
n.3607-272C>A
n.4043-272C>A
c.1144G>T (p.Ala382Ser)
c.1162G>T (p.Ala388Ser)
c.919G>T (p.Ala307Ser)
c.952G>T (p.Ala318Ser)
c.970G>T (p.Ala324Ser)
2g.127428537C>ACA348405191PROCc.977C>A (p.Ala326Glu)
c.301C>A
c.1079C>A (p.Ala360Glu)
c.1160C>A (p.Ala387Glu)
c.1142C>A (p.Ala381Glu)
c.1040C>A (p.Ala347Glu)
n.1332-273G>T
c.1220C>A (p.Ala407Glu)
c.1322C>A (p.Ala441Glu)
c.1262C>A (p.Ala421Glu)
n.3607-273G>T
n.4043-273G>T
c.1145C>A (p.Ala382Glu)
c.1163C>A (p.Ala388Glu)
c.920C>A (p.Ala307Glu)
c.953C>A (p.Ala318Glu)
c.971C>A (p.Ala324Glu)
2g.127428537C>GCA348405195PROCc.977C>G (p.Ala326Gly)
c.301C>G
c.1079C>G (p.Ala360Gly)
c.1160C>G (p.Ala387Gly)
c.1142C>G (p.Ala381Gly)
c.1040C>G (p.Ala347Gly)
n.1332-273G>C
c.1220C>G (p.Ala407Gly)
c.1322C>G (p.Ala441Gly)
c.1262C>G (p.Ala421Gly)
n.3607-273G>C
n.4043-273G>C
c.1145C>G (p.Ala382Gly)
c.1163C>G (p.Ala388Gly)
c.920C>G (p.Ala307Gly)
c.953C>G (p.Ala318Gly)
c.971C>G (p.Ala324Gly)
2g.127428537C>TCA348405192PROCc.977C>T (p.Ala326Val)
c.301C>T
c.1079C>T (p.Ala360Val)
c.1160C>T (p.Ala387Val)
c.1142C>T (p.Ala381Val)
c.1040C>T (p.Ala347Val)
n.1332-273G>A
c.1220C>T (p.Ala407Val)
c.1322C>T (p.Ala441Val)
c.1262C>T (p.Ala421Val)
n.3607-273G>A
n.4043-273G>A
c.1145C>T (p.Ala382Val)
c.1163C>T (p.Ala388Val)
c.920C>T (p.Ala307Val)
c.953C>T (p.Ala318Val)
c.971C>T (p.Ala324Val)
 gnomAD v4
2g.127428538A>CCA428871745PROCc.978A>C (p.Ala326=)
c.302A>C
c.1080A>C (p.Ala360=)
c.1161A>C (p.Ala387=)
c.1143A>C (p.Ala381=)
c.1041A>C (p.Ala347=)
n.1332-274T>G
c.1221A>C (p.Ala407=)
c.1323A>C (p.Ala441=)
c.1263A>C (p.Ala421=)
n.3607-274T>G
n.4043-274T>G
c.1146A>C (p.Ala382=)
c.1164A>C (p.Ala388=)
c.921A>C (p.Ala307=)
c.954A>C (p.Ala318=)
c.972A>C (p.Ala324=)
2g.127428538A>GCA428871747PROCc.978A>G (p.Ala326=)
c.302A>G
c.1080A>G (p.Ala360=)
c.1161A>G (p.Ala387=)
c.1143A>G (p.Ala381=)
c.1041A>G (p.Ala347=)
n.1332-274T>C
c.1221A>G (p.Ala407=)
c.1323A>G (p.Ala441=)
c.1263A>G (p.Ala421=)
n.3607-274T>C
n.4043-274T>C
c.1146A>G (p.Ala382=)
c.1164A>G (p.Ala388=)
c.921A>G (p.Ala307=)
c.954A>G (p.Ala318=)
c.972A>G (p.Ala324=)
2g.127428538A>TCA428871749PROCc.978A>T (p.Ala326=)
c.302A>T
c.1080A>T (p.Ala360=)
c.1161A>T (p.Ala387=)
c.1143A>T (p.Ala381=)
c.1041A>T (p.Ala347=)
n.1332-274T>A
c.1221A>T (p.Ala407=)
c.1323A>T (p.Ala441=)
c.1263A>T (p.Ala421=)
n.3607-274T>A
n.4043-274T>A
c.1146A>T (p.Ala382=)
c.1164A>T (p.Ala388=)
c.921A>T (p.Ala307=)
c.954A>T (p.Ala318=)
c.972A>T (p.Ala324=)
2g.127428539G>ACA348405199PROCc.979G>A (p.Glu327Lys)
c.303G>A
c.1081G>A (p.Glu361Lys)
c.1162G>A (p.Glu388Lys)
c.1144G>A (p.Glu382Lys)
c.1042G>A (p.Glu348Lys)
n.1332-275C>T
c.1222G>A (p.Glu408Lys)
c.1324G>A (p.Glu442Lys)
c.1264G>A (p.Glu422Lys)
n.3607-275C>T
n.4043-275C>T
c.1147G>A (p.Glu383Lys)
c.1165G>A (p.Glu389Lys)
c.922G>A (p.Glu308Lys)
c.955G>A (p.Glu319Lys)
c.973G>A (p.Glu325Lys)
 dbSNP gnomAD v2 COSMIC
2g.127428539G>CCA348405201PROCc.979G>C (p.Glu327Gln)
c.303G>C
c.1081G>C (p.Glu361Gln)
c.1162G>C (p.Glu388Gln)
c.1144G>C (p.Glu382Gln)
c.1042G>C (p.Glu348Gln)
n.1332-275C>G
c.1222G>C (p.Glu408Gln)
c.1324G>C (p.Glu442Gln)
c.1264G>C (p.Glu422Gln)
n.3607-275C>G
n.4043-275C>G
c.1147G>C (p.Glu383Gln)
c.1165G>C (p.Glu389Gln)
c.922G>C (p.Glu308Gln)
c.955G>C (p.Glu319Gln)
c.973G>C (p.Glu325Gln)
 gnomAD v4
2g.127428539G=CA1286884516PROCc.979G= (p.Glu327=)
c.303G=
c.1081G= (p.Glu361=)
c.1162G= (p.Glu388=)
c.1144G= (p.Glu382=)
c.1042G= (p.Glu348=)
n.1332-275C=
c.1222G= (p.Glu408=)
c.1324G= (p.Glu442=)
c.1264G= (p.Glu422=)
n.3607-275C=
n.4043-275C=
c.1147G= (p.Glu383=)
c.1165G= (p.Glu389=)
c.922G= (p.Glu308=)
c.955G= (p.Glu319=)
c.973G= (p.Glu325=)
2g.127428539G>TCA348405207PROCc.979G>T (p.Glu327Ter)
c.303G>T
c.1081G>T (p.Glu361Ter)
c.1162G>T (p.Glu388Ter)
c.1144G>T (p.Glu382Ter)
c.1042G>T (p.Glu348Ter)
n.1332-275C>A
c.1222G>T (p.Glu408Ter)
c.1324G>T (p.Glu442Ter)
c.1264G>T (p.Glu422Ter)
n.3607-275C>A
n.4043-275C>A
c.1147G>T (p.Glu383Ter)
c.1165G>T (p.Glu389Ter)
c.922G>T (p.Glu308Ter)
c.955G>T (p.Glu319Ter)
c.973G>T (p.Glu325Ter)
2g.127428540A=CA1286884517PROCc.980A= (p.Glu327=)
c.304A=
c.1082A= (p.Glu361=)
c.1163A= (p.Glu388=)
c.1145A= (p.Glu382=)
c.1043A= (p.Glu348=)
n.1332-276T=
c.1223A= (p.Glu408=)
c.1325A= (p.Glu442=)
c.1265A= (p.Glu422=)
n.3607-276T=
n.4043-276T=
c.1148A= (p.Glu383=)
c.1166A= (p.Glu389=)
c.923A= (p.Glu308=)
c.956A= (p.Glu319=)
c.974A= (p.Glu325=)
2g.127428540A>CCA348405209PROCc.980A>C (p.Glu327Ala)
c.304A>C
c.1082A>C (p.Glu361Ala)
c.1163A>C (p.Glu388Ala)
c.1145A>C (p.Glu382Ala)
c.1043A>C (p.Glu348Ala)
n.1332-276T>G
c.1223A>C (p.Glu408Ala)
c.1325A>C (p.Glu442Ala)
c.1265A>C (p.Glu422Ala)
n.3607-276T>G
n.4043-276T>G
c.1148A>C (p.Glu383Ala)
c.1166A>C (p.Glu389Ala)
c.923A>C (p.Glu308Ala)
c.956A>C (p.Glu319Ala)
c.974A>C (p.Glu325Ala)
2g.127428540A>GCA348405212PROCc.980A>G (p.Glu327Gly)
c.304A>G
c.1082A>G (p.Glu361Gly)
c.1163A>G (p.Glu388Gly)
c.1145A>G (p.Glu382Gly)
c.1043A>G (p.Glu348Gly)
n.1332-276T>C
c.1223A>G (p.Glu408Gly)
c.1325A>G (p.Glu442Gly)
c.1265A>G (p.Glu422Gly)
n.3607-276T>C
n.4043-276T>C
c.1148A>G (p.Glu383Gly)
c.1166A>G (p.Glu389Gly)
c.923A>G (p.Glu308Gly)
c.956A>G (p.Glu319Gly)
c.974A>G (p.Glu325Gly)
2g.127428540A>TCA55350850PROCc.980A>T (p.Glu327Val)
c.304A>T
c.1082A>T (p.Glu361Val)
c.1163A>T (p.Glu388Val)
c.1145A>T (p.Glu382Val)
c.1043A>T (p.Glu348Val)
n.1332-276T>A
c.1223A>T (p.Glu408Val)
c.1325A>T (p.Glu442Val)
c.1265A>T (p.Glu422Val)
n.3607-276T>A
n.4043-276T>A
c.1148A>T (p.Glu383Val)
c.1166A>T (p.Glu389Val)
c.923A>T (p.Glu308Val)
c.956A>T (p.Glu319Val)
c.974A>T (p.Glu325Val)
 ClinVar dbSNP gnomAD v4
2g.127428541G>ACA428871762PROCc.981G>A (p.Glu327=)
c.305G>A
c.1083G>A (p.Glu361=)
c.1164G>A (p.Glu388=)
c.1146G>A (p.Glu382=)
c.1044G>A (p.Glu348=)
n.1332-277C>T
c.1224G>A (p.Glu408=)
c.1326G>A (p.Glu442=)
c.1266G>A (p.Glu422=)
n.3607-277C>T
n.4043-277C>T
c.1149G>A (p.Glu383=)
c.1167G>A (p.Glu389=)
c.924G>A (p.Glu308=)
c.957G>A (p.Glu319=)
c.975G>A (p.Glu325=)
 gnomAD v4
2g.127428541G>CCA348405214PROCc.981G>C (p.Glu327Asp)
c.305G>C
c.1083G>C (p.Glu361Asp)
c.1164G>C (p.Glu388Asp)
c.1146G>C (p.Glu382Asp)
c.1044G>C (p.Glu348Asp)
n.1332-277C>G
c.1224G>C (p.Glu408Asp)
c.1326G>C (p.Glu442Asp)
c.1266G>C (p.Glu422Asp)
n.3607-277C>G
n.4043-277C>G
c.1149G>C (p.Glu383Asp)
c.1167G>C (p.Glu389Asp)
c.924G>C (p.Glu308Asp)
c.957G>C (p.Glu319Asp)
c.975G>C (p.Glu325Asp)
2g.127428541G>TCA348405215PROCc.981G>T (p.Glu327Asp)
c.305G>T
c.1083G>T (p.Glu361Asp)
c.1164G>T (p.Glu388Asp)
c.1146G>T (p.Glu382Asp)
c.1044G>T (p.Glu348Asp)
n.1332-277C>A
c.1224G>T (p.Glu408Asp)
c.1326G>T (p.Glu442Asp)
c.1266G>T (p.Glu422Asp)
n.3607-277C>A
n.4043-277C>A
c.1149G>T (p.Glu383Asp)
c.1167G>T (p.Glu389Asp)
c.924G>T (p.Glu308Asp)
c.957G>T (p.Glu319Asp)
c.975G>T (p.Glu325Asp)
2g.127428542C>ACA348405216PROCc.982C>A (p.Arg328Ser)
c.306C>A
c.1084C>A (p.Arg362Ser)
c.1165C>A (p.Arg389Ser)
c.1147C>A (p.Arg383Ser)
c.1045C>A (p.Arg349Ser)
n.1332-278G>T
c.1225C>A (p.Arg409Ser)
c.1327C>A (p.Arg443Ser)
c.1267C>A (p.Arg423Ser)
n.3607-278G>T
n.4043-278G>T
c.1150C>A (p.Arg384Ser)
c.1168C>A (p.Arg390Ser)
c.925C>A (p.Arg309Ser)
c.958C>A (p.Arg320Ser)
c.976C>A (p.Arg326Ser)
2g.127428542C=CA1286884518PROCc.982C= (p.Arg328=)
c.306C=
c.1084C= (p.Arg362=)
c.1165C= (p.Arg389=)
c.1147C= (p.Arg383=)
c.1045C= (p.Arg349=)
n.1332-278G=
c.1225C= (p.Arg409=)
c.1327C= (p.Arg443=)
c.1267C= (p.Arg423=)
n.3607-278G=
n.4043-278G=
c.1150C= (p.Arg384=)
c.1168C= (p.Arg390=)
c.925C= (p.Arg309=)
c.958C= (p.Arg320=)
c.976C= (p.Arg326=)
2g.127428542C>GCA348405217PROCc.982C>G (p.Arg328Gly)
c.306C>G
c.1084C>G (p.Arg362Gly)
c.1165C>G (p.Arg389Gly)
c.1147C>G (p.Arg383Gly)
c.1045C>G (p.Arg349Gly)
n.1332-278G>C
c.1225C>G (p.Arg409Gly)
c.1327C>G (p.Arg443Gly)
c.1267C>G (p.Arg423Gly)
n.3607-278G>C
n.4043-278G>C
c.1150C>G (p.Arg384Gly)
c.1168C>G (p.Arg390Gly)
c.925C>G (p.Arg309Gly)
c.958C>G (p.Arg320Gly)
c.976C>G (p.Arg326Gly)
2g.127428542C>TCA55350874PROCc.982C>T (p.Arg328Cys)
c.306C>T
c.1084C>T (p.Arg362Cys)
c.1165C>T (p.Arg389Cys)
c.1147C>T (p.Arg383Cys)
c.1045C>T (p.Arg349Cys)
n.1332-278G>A
c.1225C>T (p.Arg409Cys)
c.1327C>T (p.Arg443Cys)
c.1267C>T (p.Arg423Cys)
n.3607-278G>A
n.4043-278G>A
c.1150C>T (p.Arg384Cys)
c.1168C>T (p.Arg390Cys)
c.925C>T (p.Arg309Cys)
c.958C>T (p.Arg320Cys)
c.976C>T (p.Arg326Cys)
 ClinVar dbSNP gnomAD v4
2g.127428543G>ACA348405226PROCc.983G>A (p.Arg328His)
c.307G>A
c.1085G>A (p.Arg362His)
c.1166G>A (p.Arg389His)
c.1148G>A (p.Arg383His)
c.1046G>A (p.Arg349His)
n.1332-279C>T
c.1226G>A (p.Arg409His)
c.1328G>A (p.Arg443His)
c.1268G>A (p.Arg423His)
n.3607-279C>T
n.4043-279C>T
c.1151G>A (p.Arg384His)
c.1169G>A (p.Arg390His)
c.926G>A (p.Arg309His)
c.959G>A (p.Arg320His)
c.977G>A (p.Arg326His)
 ClinVar dbSNP gnomAD v4
2g.127428543G>CCA348405223PROCc.983G>C (p.Arg328Pro)
c.307G>C
c.1085G>C (p.Arg362Pro)
c.1166G>C (p.Arg389Pro)
c.1148G>C (p.Arg383Pro)
c.1046G>C (p.Arg349Pro)
n.1332-279C>G
c.1226G>C (p.Arg409Pro)
c.1328G>C (p.Arg443Pro)
c.1268G>C (p.Arg423Pro)
n.3607-279C>G
n.4043-279C>G
c.1151G>C (p.Arg384Pro)
c.1169G>C (p.Arg390Pro)
c.926G>C (p.Arg309Pro)
c.959G>C (p.Arg320Pro)
c.977G>C (p.Arg326Pro)
2g.127428543G=CA1286884519PROCc.983G= (p.Arg328=)
c.307G=
c.1085G= (p.Arg362=)
c.1166G= (p.Arg389=)
c.1148G= (p.Arg383=)
c.1046G= (p.Arg349=)
n.1332-279C=
c.1226G= (p.Arg409=)
c.1328G= (p.Arg443=)
c.1268G= (p.Arg423=)
n.3607-279C=
n.4043-279C=
c.1151G= (p.Arg384=)
c.1169G= (p.Arg390=)
c.926G= (p.Arg309=)
c.959G= (p.Arg320=)
c.977G= (p.Arg326=)
2g.127428543G>TCA348405221PROCc.983G>T (p.Arg328Leu)
c.307G>T
c.1085G>T (p.Arg362Leu)
c.1166G>T (p.Arg389Leu)
c.1148G>T (p.Arg383Leu)
c.1046G>T (p.Arg349Leu)
n.1332-279C>A
c.1226G>T (p.Arg409Leu)
c.1328G>T (p.Arg443Leu)
c.1268G>T (p.Arg423Leu)
n.3607-279C>A
n.4043-279C>A
c.1151G>T (p.Arg384Leu)
c.1169G>T (p.Arg390Leu)
c.926G>T (p.Arg309Leu)
c.959G>T (p.Arg320Leu)
c.977G>T (p.Arg326Leu)
2g.127428544delCA2660997779PROCc.984del (p.Glu329SerfsTer11)
c.308del
c.1086del (p.Glu363SerfsTer11)
c.1167del (p.Glu390SerfsTer11)
c.1149del (p.Glu384SerfsTer11)
c.1047del (p.Glu350SerfsTer11)
n.1332-280del
c.1227del (p.Glu410SerfsTer11)
c.1329del (p.Glu444SerfsTer11)
c.1269del (p.Glu424SerfsTer11)
n.3607-280del
n.4043-280del
c.1152del (p.Glu385SerfsTer11)
c.1170del (p.Glu391SerfsTer11)
c.927del (p.Glu310SerfsTer11)
c.960del (p.Glu321SerfsTer11)
c.978del (p.Glu327SerfsTer11)
 gnomAD v4
2g.127428544C>ACA428871773PROCc.984C>A (p.Arg328=)
c.308C>A
c.1086C>A (p.Arg362=)
c.1167C>A (p.Arg389=)
c.1149C>A (p.Arg383=)
c.1047C>A (p.Arg349=)
n.1332-280G>T
c.1227C>A (p.Arg409=)
c.1329C>A (p.Arg443=)
c.1269C>A (p.Arg423=)
n.3607-280G>T
n.4043-280G>T
c.1152C>A (p.Arg384=)
c.1170C>A (p.Arg390=)
c.927C>A (p.Arg309=)
c.960C>A (p.Arg320=)
c.978C>A (p.Arg326=)
 gnomAD v4
2g.127428544C=CA1286884520PROCc.984C= (p.Arg328=)
c.308C=
c.1086C= (p.Arg362=)
c.1167C= (p.Arg389=)
c.1149C= (p.Arg383=)
c.1047C= (p.Arg349=)
n.1332-280G=
c.1227C= (p.Arg409=)
c.1329C= (p.Arg443=)
c.1269C= (p.Arg423=)
n.3607-280G=
n.4043-280G=
c.1152C= (p.Arg384=)
c.1170C= (p.Arg390=)
c.927C= (p.Arg309=)
c.960C= (p.Arg320=)
c.978C= (p.Arg326=)
2g.127428544C>GCA428871774PROCc.984C>G (p.Arg328=)
c.308C>G
c.1086C>G (p.Arg362=)
c.1167C>G (p.Arg389=)
c.1149C>G (p.Arg383=)
c.1047C>G (p.Arg349=)
n.1332-280G>C
c.1227C>G (p.Arg409=)
c.1329C>G (p.Arg443=)
c.1269C>G (p.Arg423=)
n.3607-280G>C
n.4043-280G>C
c.1152C>G (p.Arg384=)
c.1170C>G (p.Arg390=)
c.927C>G (p.Arg309=)
c.960C>G (p.Arg320=)
c.978C>G (p.Arg326=)
2g.127428544C>TCA1859498PROCc.984C>T (p.Arg328=)
c.308C>T
c.1086C>T (p.Arg362=)
c.1167C>T (p.Arg389=)
c.1149C>T (p.Arg383=)
c.1047C>T (p.Arg349=)
n.1332-280G>A
c.1227C>T (p.Arg409=)
c.1329C>T (p.Arg443=)
c.1269C>T (p.Arg423=)
n.3607-280G>A
n.4043-280G>A
c.1152C>T (p.Arg384=)
c.1170C>T (p.Arg390=)
c.927C>T (p.Arg309=)
c.960C>T (p.Arg320=)
c.978C>T (p.Arg326=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428545G>ACA1859499PROCc.985G>A (p.Glu329Lys)
c.309G>A
c.1087G>A (p.Glu363Lys)
c.1168G>A (p.Glu390Lys)
c.1150G>A (p.Glu384Lys)
c.1048G>A (p.Glu350Lys)
n.1332-281C>T
c.1228G>A (p.Glu410Lys)
c.1330G>A (p.Glu444Lys)
c.1270G>A (p.Glu424Lys)
n.3607-281C>T
n.4043-281C>T
c.1153G>A (p.Glu385Lys)
c.1171G>A (p.Glu391Lys)
c.928G>A (p.Glu310Lys)
c.961G>A (p.Glu321Lys)
c.979G>A (p.Glu327Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428545G>CCA348405234PROCc.985G>C (p.Glu329Gln)
c.309G>C
c.1087G>C (p.Glu363Gln)
c.1168G>C (p.Glu390Gln)
c.1150G>C (p.Glu384Gln)
c.1048G>C (p.Glu350Gln)
n.1332-281C>G
c.1228G>C (p.Glu410Gln)
c.1330G>C (p.Glu444Gln)
c.1270G>C (p.Glu424Gln)
n.3607-281C>G
n.4043-281C>G
c.1153G>C (p.Glu385Gln)
c.1171G>C (p.Glu391Gln)
c.928G>C (p.Glu310Gln)
c.961G>C (p.Glu321Gln)
c.979G>C (p.Glu327Gln)
2g.127428545G=CA1286884521PROCc.985G= (p.Glu329=)
c.309G=
c.1087G= (p.Glu363=)
c.1168G= (p.Glu390=)
c.1150G= (p.Glu384=)
c.1048G= (p.Glu350=)
n.1332-281C=
c.1228G= (p.Glu410=)
c.1330G= (p.Glu444=)
c.1270G= (p.Glu424=)
n.3607-281C=
n.4043-281C=
c.1153G= (p.Glu385=)
c.1171G= (p.Glu391=)
c.928G= (p.Glu310=)
c.961G= (p.Glu321=)
c.979G= (p.Glu327=)
2g.127428545G>TCA348405236PROCc.985G>T (p.Glu329Ter)
c.309G>T
c.1087G>T (p.Glu363Ter)
c.1168G>T (p.Glu390Ter)
c.1150G>T (p.Glu384Ter)
c.1048G>T (p.Glu350Ter)
n.1332-281C>A
c.1228G>T (p.Glu410Ter)
c.1330G>T (p.Glu444Ter)
c.1270G>T (p.Glu424Ter)
n.3607-281C>A
n.4043-281C>A
c.1153G>T (p.Glu385Ter)
c.1171G>T (p.Glu391Ter)
c.928G>T (p.Glu310Ter)
c.961G>T (p.Glu321Ter)
c.979G>T (p.Glu327Ter)
2g.127428546A>CCA348405240PROCc.986A>C (p.Glu329Ala)
c.310A>C
c.1088A>C (p.Glu363Ala)
c.1169A>C (p.Glu390Ala)
c.1151A>C (p.Glu384Ala)
c.1049A>C (p.Glu350Ala)
n.1332-282T>G
c.1229A>C (p.Glu410Ala)
c.1331A>C (p.Glu444Ala)
c.1271A>C (p.Glu424Ala)
n.3607-282T>G
n.4043-282T>G
c.1154A>C (p.Glu385Ala)
c.1172A>C (p.Glu391Ala)
c.929A>C (p.Glu310Ala)
c.962A>C (p.Glu321Ala)
c.980A>C (p.Glu327Ala)
2g.127428546A>GCA348405244PROCc.986A>G (p.Glu329Gly)
c.310A>G
c.1088A>G (p.Glu363Gly)
c.1169A>G (p.Glu390Gly)
c.1151A>G (p.Glu384Gly)
c.1049A>G (p.Glu350Gly)
n.1332-282T>C
c.1229A>G (p.Glu410Gly)
c.1331A>G (p.Glu444Gly)
c.1271A>G (p.Glu424Gly)
n.3607-282T>C
n.4043-282T>C
c.1154A>G (p.Glu385Gly)
c.1172A>G (p.Glu391Gly)
c.929A>G (p.Glu310Gly)
c.962A>G (p.Glu321Gly)
c.980A>G (p.Glu327Gly)
2g.127428546A>TCA348405247PROCc.986A>T (p.Glu329Val)
c.310A>T
c.1088A>T (p.Glu363Val)
c.1169A>T (p.Glu390Val)
c.1151A>T (p.Glu384Val)
c.1049A>T (p.Glu350Val)
n.1332-282T>A
c.1229A>T (p.Glu410Val)
c.1331A>T (p.Glu444Val)
c.1271A>T (p.Glu424Val)
n.3607-282T>A
n.4043-282T>A
c.1154A>T (p.Glu385Val)
c.1172A>T (p.Glu391Val)
c.929A>T (p.Glu310Val)
c.962A>T (p.Glu321Val)
c.980A>T (p.Glu327Val)
2g.127428547G>ACA428871790PROCc.987G>A (p.Glu329=)
c.311G>A
c.1089G>A (p.Glu363=)
c.1170G>A (p.Glu390=)
c.1152G>A (p.Glu384=)
c.1050G>A (p.Glu350=)
n.1332-283C>T
c.1230G>A (p.Glu410=)
c.1332G>A (p.Glu444=)
c.1272G>A (p.Glu424=)
n.3607-283C>T
n.4043-283C>T
c.1155G>A (p.Glu385=)
c.1173G>A (p.Glu391=)
c.930G>A (p.Glu310=)
c.963G>A (p.Glu321=)
c.981G>A (p.Glu327=)
2g.127428547G>CCA348405254PROCc.987G>C (p.Glu329Asp)
c.311G>C
c.1089G>C (p.Glu363Asp)
c.1170G>C (p.Glu390Asp)
c.1152G>C (p.Glu384Asp)
c.1050G>C (p.Glu350Asp)
n.1332-283C>G
c.1230G>C (p.Glu410Asp)
c.1332G>C (p.Glu444Asp)
c.1272G>C (p.Glu424Asp)
n.3607-283C>G
n.4043-283C>G
c.1155G>C (p.Glu385Asp)
c.1173G>C (p.Glu391Asp)
c.930G>C (p.Glu310Asp)
c.963G>C (p.Glu321Asp)
c.981G>C (p.Glu327Asp)
2g.127428547G>TCA348405256PROCc.987G>T (p.Glu329Asp)
c.311G>T
c.1089G>T (p.Glu363Asp)
c.1170G>T (p.Glu390Asp)
c.1152G>T (p.Glu384Asp)
c.1050G>T (p.Glu350Asp)
n.1332-283C>A
c.1230G>T (p.Glu410Asp)
c.1332G>T (p.Glu444Asp)
c.1272G>T (p.Glu424Asp)
n.3607-283C>A
n.4043-283C>A
c.1155G>T (p.Glu385Asp)
c.1173G>T (p.Glu391Asp)
c.930G>T (p.Glu310Asp)
c.963G>T (p.Glu321Asp)
c.981G>T (p.Glu327Asp)
2g.127428548C>ACA348405265PROCc.988C>A (p.Leu330Ile)
c.312C>A
c.1090C>A (p.Leu364Ile)
c.1171C>A (p.Leu391Ile)
c.1153C>A (p.Leu385Ile)
c.1051C>A (p.Leu351Ile)
n.1332-284G>T
c.1231C>A (p.Leu411Ile)
c.1333C>A (p.Leu445Ile)
c.1273C>A (p.Leu425Ile)
n.3607-284G>T
n.4043-284G>T
c.1156C>A (p.Leu386Ile)
c.1174C>A (p.Leu392Ile)
c.931C>A (p.Leu311Ile)
c.964C>A (p.Leu322Ile)
c.982C>A (p.Leu328Ile)
2g.127428548C>GCA348405267PROCc.988C>G (p.Leu330Val)
c.312C>G
c.1090C>G (p.Leu364Val)
c.1171C>G (p.Leu391Val)
c.1153C>G (p.Leu385Val)
c.1051C>G (p.Leu351Val)
n.1332-284G>C
c.1231C>G (p.Leu411Val)
c.1333C>G (p.Leu445Val)
c.1273C>G (p.Leu425Val)
n.3607-284G>C
n.4043-284G>C
c.1156C>G (p.Leu386Val)
c.1174C>G (p.Leu392Val)
c.931C>G (p.Leu311Val)
c.964C>G (p.Leu322Val)
c.982C>G (p.Leu328Val)
2g.127428548C>TCA348405268PROCc.988C>T (p.Leu330Phe)
c.312C>T
c.1090C>T (p.Leu364Phe)
c.1171C>T (p.Leu391Phe)
c.1153C>T (p.Leu385Phe)
c.1051C>T (p.Leu351Phe)
n.1332-284G>A
c.1231C>T (p.Leu411Phe)
c.1333C>T (p.Leu445Phe)
c.1273C>T (p.Leu425Phe)
n.3607-284G>A
n.4043-284G>A
c.1156C>T (p.Leu386Phe)
c.1174C>T (p.Leu392Phe)
c.931C>T (p.Leu311Phe)
c.964C>T (p.Leu322Phe)
c.982C>T (p.Leu328Phe)
 gnomAD v4
2g.127428549T>ACA348405273PROCc.989T>A (p.Leu330His)
c.313T>A
c.1091T>A (p.Leu364His)
c.1172T>A (p.Leu391His)
c.1154T>A (p.Leu385His)
c.1052T>A (p.Leu351His)
n.1332-285A>T
c.1232T>A (p.Leu411His)
c.1334T>A (p.Leu445His)
c.1274T>A (p.Leu425His)
n.3607-285A>T
n.4043-285A>T
c.1157T>A (p.Leu386His)
c.1175T>A (p.Leu392His)
c.932T>A (p.Leu311His)
c.965T>A (p.Leu322His)
c.983T>A (p.Leu328His)
2g.127428549T>CCA348405270PROCc.989T>C (p.Leu330Pro)
c.313T>C
c.1091T>C (p.Leu364Pro)
c.1172T>C (p.Leu391Pro)
c.1154T>C (p.Leu385Pro)
c.1052T>C (p.Leu351Pro)
n.1332-285A>G
c.1232T>C (p.Leu411Pro)
c.1334T>C (p.Leu445Pro)
c.1274T>C (p.Leu425Pro)
n.3607-285A>G
n.4043-285A>G
c.1157T>C (p.Leu386Pro)
c.1175T>C (p.Leu392Pro)
c.932T>C (p.Leu311Pro)
c.965T>C (p.Leu322Pro)
c.983T>C (p.Leu328Pro)
 ClinVar
2g.127428549T>GCA348405269PROCc.989T>G (p.Leu330Arg)
c.313T>G
c.1091T>G (p.Leu364Arg)
c.1172T>G (p.Leu391Arg)
c.1154T>G (p.Leu385Arg)
c.1052T>G (p.Leu351Arg)
n.1332-285A>C
c.1232T>G (p.Leu411Arg)
c.1334T>G (p.Leu445Arg)
c.1274T>G (p.Leu425Arg)
n.3607-285A>C
n.4043-285A>C
c.1157T>G (p.Leu386Arg)
c.1175T>G (p.Leu392Arg)
c.932T>G (p.Leu311Arg)
c.965T>G (p.Leu322Arg)
c.983T>G (p.Leu328Arg)
2g.127428550C>ACA428871800PROCc.990C>A (p.Leu330=)
c.314C>A
c.1092C>A (p.Leu364=)
c.1173C>A (p.Leu391=)
c.1155C>A (p.Leu385=)
c.1053C>A (p.Leu351=)
n.1332-286G>T
c.1233C>A (p.Leu411=)
c.1335C>A (p.Leu445=)
c.1275C>A (p.Leu425=)
n.3607-286G>T
n.4043-286G>T
c.1158C>A (p.Leu386=)
c.1176C>A (p.Leu392=)
c.933C>A (p.Leu311=)
c.966C>A (p.Leu322=)
c.984C>A (p.Leu328=)
2g.127428550C>GCA428871802PROCc.990C>G (p.Leu330=)
c.314C>G
c.1092C>G (p.Leu364=)
c.1173C>G (p.Leu391=)
c.1155C>G (p.Leu385=)
c.1053C>G (p.Leu351=)
n.1332-286G>C
c.1233C>G (p.Leu411=)
c.1335C>G (p.Leu445=)
c.1275C>G (p.Leu425=)
n.3607-286G>C
n.4043-286G>C
c.1158C>G (p.Leu386=)
c.1176C>G (p.Leu392=)
c.933C>G (p.Leu311=)
c.966C>G (p.Leu322=)
c.984C>G (p.Leu328=)
2g.127428550C>TCA428871804PROCc.990C>T (p.Leu330=)
c.314C>T
c.1092C>T (p.Leu364=)
c.1173C>T (p.Leu391=)
c.1155C>T (p.Leu385=)
c.1053C>T (p.Leu351=)
n.1332-286G>A
c.1233C>T (p.Leu411=)
c.1335C>T (p.Leu445=)
c.1275C>T (p.Leu425=)
n.3607-286G>A
n.4043-286G>A
c.1158C>T (p.Leu386=)
c.1176C>T (p.Leu392=)
c.933C>T (p.Leu311=)
c.966C>T (p.Leu322=)
c.984C>T (p.Leu328=)
 COSMIC
2g.127428551A=CA1286884522PROCc.991A= (p.Asn331=)
c.315A=
c.1093A= (p.Asn365=)
c.1174A= (p.Asn392=)
c.1156A= (p.Asn386=)
c.1054A= (p.Asn352=)
n.1332-287T=
c.1234A= (p.Asn412=)
c.1336A= (p.Asn446=)
c.1276A= (p.Asn426=)
n.3607-287T=
n.4043-287T=
c.1159A= (p.Asn387=)
c.1177A= (p.Asn393=)
c.934A= (p.Asn312=)
c.967A= (p.Asn323=)
c.985A= (p.Asn329=)
2g.127428551A>CCA348405278PROCc.991A>C (p.Asn331His)
c.315A>C
c.1093A>C (p.Asn365His)
c.1174A>C (p.Asn392His)
c.1156A>C (p.Asn386His)
c.1054A>C (p.Asn352His)
n.1332-287T>G
c.1234A>C (p.Asn412His)
c.1336A>C (p.Asn446His)
c.1276A>C (p.Asn426His)
n.3607-287T>G
n.4043-287T>G
c.1159A>C (p.Asn387His)
c.1177A>C (p.Asn393His)
c.934A>C (p.Asn312His)
c.967A>C (p.Asn323His)
c.985A>C (p.Asn329His)
 dbSNP gnomAD v4
2g.127428551A>GCA348405276PROCc.991A>G (p.Asn331Asp)
c.315A>G
c.1093A>G (p.Asn365Asp)
c.1174A>G (p.Asn392Asp)
c.1156A>G (p.Asn386Asp)
c.1054A>G (p.Asn352Asp)
n.1332-287T>C
c.1234A>G (p.Asn412Asp)
c.1336A>G (p.Asn446Asp)
c.1276A>G (p.Asn426Asp)
n.3607-287T>C
n.4043-287T>C
c.1159A>G (p.Asn387Asp)
c.1177A>G (p.Asn393Asp)
c.934A>G (p.Asn312Asp)
c.967A>G (p.Asn323Asp)
c.985A>G (p.Asn329Asp)
2g.127428551A>TCA348405277PROCc.991A>T (p.Asn331Tyr)
c.315A>T
c.1093A>T (p.Asn365Tyr)
c.1174A>T (p.Asn392Tyr)
c.1156A>T (p.Asn386Tyr)
c.1054A>T (p.Asn352Tyr)
n.1332-287T>A
c.1234A>T (p.Asn412Tyr)
c.1336A>T (p.Asn446Tyr)
c.1276A>T (p.Asn426Tyr)
n.3607-287T>A
n.4043-287T>A
c.1159A>T (p.Asn387Tyr)
c.1177A>T (p.Asn393Tyr)
c.934A>T (p.Asn312Tyr)
c.967A>T (p.Asn323Tyr)
c.985A>T (p.Asn329Tyr)
 dbSNP
2g.127428552A=CA1286884523PROCc.992A= (p.Asn331=)
c.316A=
c.1094A= (p.Asn365=)
c.1175A= (p.Asn392=)
c.1157A= (p.Asn386=)
c.1055A= (p.Asn352=)
n.1332-288T=
c.1235A= (p.Asn412=)
c.1337A= (p.Asn446=)
c.1277A= (p.Asn426=)
n.3607-288T=
n.4043-288T=
c.1160A= (p.Asn387=)
c.1178A= (p.Asn393=)
c.935A= (p.Asn312=)
c.968A= (p.Asn323=)
c.986A= (p.Asn329=)
2g.127428552A>CCA348405279PROCc.992A>C (p.Asn331Thr)
c.316A>C
c.1094A>C (p.Asn365Thr)
c.1175A>C (p.Asn392Thr)
c.1157A>C (p.Asn386Thr)
c.1055A>C (p.Asn352Thr)
n.1332-288T>G
c.1235A>C (p.Asn412Thr)
c.1337A>C (p.Asn446Thr)
c.1277A>C (p.Asn426Thr)
n.3607-288T>G
n.4043-288T>G
c.1160A>C (p.Asn387Thr)
c.1178A>C (p.Asn393Thr)
c.935A>C (p.Asn312Thr)
c.968A>C (p.Asn323Thr)
c.986A>C (p.Asn329Thr)
2g.127428552A>GCA1859500PROCc.992A>G (p.Asn331Ser)
c.316A>G
c.1094A>G (p.Asn365Ser)
c.1175A>G (p.Asn392Ser)
c.1157A>G (p.Asn386Ser)
c.1055A>G (p.Asn352Ser)
n.1332-288T>C
c.1235A>G (p.Asn412Ser)
c.1337A>G (p.Asn446Ser)
c.1277A>G (p.Asn426Ser)
n.3607-288T>C
n.4043-288T>C
c.1160A>G (p.Asn387Ser)
c.1178A>G (p.Asn393Ser)
c.935A>G (p.Asn312Ser)
c.968A>G (p.Asn323Ser)
c.986A>G (p.Asn329Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428552A>TCA348405282PROCc.992A>T (p.Asn331Ile)
c.316A>T
c.1094A>T (p.Asn365Ile)
c.1175A>T (p.Asn392Ile)
c.1157A>T (p.Asn386Ile)
c.1055A>T (p.Asn352Ile)
n.1332-288T>A
c.1235A>T (p.Asn412Ile)
c.1337A>T (p.Asn446Ile)
c.1277A>T (p.Asn426Ile)
n.3607-288T>A
n.4043-288T>A
c.1160A>T (p.Asn387Ile)
c.1178A>T (p.Asn393Ile)
c.935A>T (p.Asn312Ile)
c.968A>T (p.Asn323Ile)
c.986A>T (p.Asn329Ile)
2g.127428553T>ACA348405283PROCc.993T>A (p.Asn331Lys)
c.317T>A
c.1095T>A (p.Asn365Lys)
c.1176T>A (p.Asn392Lys)
c.1158T>A (p.Asn386Lys)
c.1056T>A (p.Asn352Lys)
n.1332-289A>T
c.1236T>A (p.Asn412Lys)
c.1338T>A (p.Asn446Lys)
c.1278T>A (p.Asn426Lys)
n.3607-289A>T
n.4043-289A>T
c.1161T>A (p.Asn387Lys)
c.1179T>A (p.Asn393Lys)
c.936T>A (p.Asn312Lys)
c.969T>A (p.Asn323Lys)
c.987T>A (p.Asn329Lys)
2g.127428553T>CCA428871821PROCc.993T>C (p.Asn331=)
c.317T>C
c.1095T>C (p.Asn365=)
c.1176T>C (p.Asn392=)
c.1158T>C (p.Asn386=)
c.1056T>C (p.Asn352=)
n.1332-289A>G
c.1236T>C (p.Asn412=)
c.1338T>C (p.Asn446=)
c.1278T>C (p.Asn426=)
n.3607-289A>G
n.4043-289A>G
c.1161T>C (p.Asn387=)
c.1179T>C (p.Asn393=)
c.936T>C (p.Asn312=)
c.969T>C (p.Asn323=)
c.987T>C (p.Asn329=)
2g.127428553T>GCA348405286PROCc.993T>G (p.Asn331Lys)
c.317T>G
c.1095T>G (p.Asn365Lys)
c.1176T>G (p.Asn392Lys)
c.1158T>G (p.Asn386Lys)
c.1056T>G (p.Asn352Lys)
n.1332-289A>C
c.1236T>G (p.Asn412Lys)
c.1338T>G (p.Asn446Lys)
c.1278T>G (p.Asn426Lys)
n.3607-289A>C
n.4043-289A>C
c.1161T>G (p.Asn387Lys)
c.1179T>G (p.Asn393Lys)
c.936T>G (p.Asn312Lys)
c.969T>G (p.Asn323Lys)
c.987T>G (p.Asn329Lys)
2g.127428554C>ACA348405290PROCc.994C>A (p.Gln332Lys)
c.318C>A
c.1096C>A (p.Gln366Lys)
c.1177C>A (p.Gln393Lys)
c.1159C>A (p.Gln387Lys)
c.1057C>A (p.Gln353Lys)
n.1332-290G>T
c.1237C>A (p.Gln413Lys)
c.1339C>A (p.Gln447Lys)
c.1279C>A (p.Gln427Lys)
n.3607-290G>T
n.4043-290G>T
c.1162C>A (p.Gln388Lys)
c.1180C>A (p.Gln394Lys)
c.937C>A (p.Gln313Lys)
c.970C>A (p.Gln324Lys)
c.988C>A (p.Gln330Lys)
2g.127428554C=CA1286884524PROCc.994C= (p.Gln332=)
c.318C=
c.1096C= (p.Gln366=)
c.1177C= (p.Gln393=)
c.1159C= (p.Gln387=)
c.1057C= (p.Gln353=)
n.1332-290G=
c.1237C= (p.Gln413=)
c.1339C= (p.Gln447=)
c.1279C= (p.Gln427=)
n.3607-290G=
n.4043-290G=
c.1162C= (p.Gln388=)
c.1180C= (p.Gln394=)
c.937C= (p.Gln313=)
c.970C= (p.Gln324=)
c.988C= (p.Gln330=)
2g.127428554C>GCA1859501PROCc.994C>G (p.Gln332Glu)
c.318C>G
c.1096C>G (p.Gln366Glu)
c.1177C>G (p.Gln393Glu)
c.1159C>G (p.Gln387Glu)
c.1057C>G (p.Gln353Glu)
n.1332-290G>C
c.1237C>G (p.Gln413Glu)
c.1339C>G (p.Gln447Glu)
c.1279C>G (p.Gln427Glu)
n.3607-290G>C
n.4043-290G>C
c.1162C>G (p.Gln388Glu)
c.1180C>G (p.Gln394Glu)
c.937C>G (p.Gln313Glu)
c.970C>G (p.Gln324Glu)
c.988C>G (p.Gln330Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428554C>TCA348405294PROCc.994C>T (p.Gln332Ter)
c.318C>T
c.1096C>T (p.Gln366Ter)
c.1177C>T (p.Gln393Ter)
c.1159C>T (p.Gln387Ter)
c.1057C>T (p.Gln353Ter)
n.1332-290G>A
c.1237C>T (p.Gln413Ter)
c.1339C>T (p.Gln447Ter)
c.1279C>T (p.Gln427Ter)
n.3607-290G>A
n.4043-290G>A
c.1162C>T (p.Gln388Ter)
c.1180C>T (p.Gln394Ter)
c.937C>T (p.Gln313Ter)
c.970C>T (p.Gln324Ter)
c.988C>T (p.Gln330Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.127428555A>CCA348405297PROCc.995A>C (p.Gln332Pro)
c.319A>C
c.1097A>C (p.Gln366Pro)
c.1178A>C (p.Gln393Pro)
c.1160A>C (p.Gln387Pro)
c.1058A>C (p.Gln353Pro)
n.1332-291T>G
c.1238A>C (p.Gln413Pro)
c.1340A>C (p.Gln447Pro)
c.1280A>C (p.Gln427Pro)
n.3607-291T>G
n.4043-291T>G
c.1163A>C (p.Gln388Pro)
c.1181A>C (p.Gln394Pro)
c.938A>C (p.Gln313Pro)
c.971A>C (p.Gln324Pro)
c.989A>C (p.Gln330Pro)
2g.127428555A>GCA348405299PROCc.995A>G (p.Gln332Arg)
c.319A>G
c.1097A>G (p.Gln366Arg)
c.1178A>G (p.Gln393Arg)
c.1160A>G (p.Gln387Arg)
c.1058A>G (p.Gln353Arg)
n.1332-291T>C
c.1238A>G (p.Gln413Arg)
c.1340A>G (p.Gln447Arg)
c.1280A>G (p.Gln427Arg)
n.3607-291T>C
n.4043-291T>C
c.1163A>G (p.Gln388Arg)
c.1181A>G (p.Gln394Arg)
c.938A>G (p.Gln313Arg)
c.971A>G (p.Gln324Arg)
c.989A>G (p.Gln330Arg)
2g.127428555A>TCA348405301PROCc.995A>T (p.Gln332Leu)
c.319A>T
c.1097A>T (p.Gln366Leu)
c.1178A>T (p.Gln393Leu)
c.1160A>T (p.Gln387Leu)
c.1058A>T (p.Gln353Leu)
n.1332-291T>A
c.1238A>T (p.Gln413Leu)
c.1340A>T (p.Gln447Leu)
c.1280A>T (p.Gln427Leu)
n.3607-291T>A
n.4043-291T>A
c.1163A>T (p.Gln388Leu)
c.1181A>T (p.Gln394Leu)
c.938A>T (p.Gln313Leu)
c.971A>T (p.Gln324Leu)
c.989A>T (p.Gln330Leu)
2g.127428556G>ACA428871833PROCc.996G>A (p.Gln332=)
c.320G>A
c.1098G>A (p.Gln366=)
c.1179G>A (p.Gln393=)
c.1161G>A (p.Gln387=)
c.1059G>A (p.Gln353=)
n.1332-292C>T
c.1239G>A (p.Gln413=)
c.1341G>A (p.Gln447=)
c.1281G>A (p.Gln427=)
n.3607-292C>T
n.4043-292C>T
c.1164G>A (p.Gln388=)
c.1182G>A (p.Gln394=)
c.939G>A (p.Gln313=)
c.972G>A (p.Gln324=)
c.990G>A (p.Gln330=)
 gnomAD v4
2g.127428556G>CCA348405307PROCc.996G>C (p.Gln332His)
c.320G>C
c.1098G>C (p.Gln366His)
c.1179G>C (p.Gln393His)
c.1161G>C (p.Gln387His)
c.1059G>C (p.Gln353His)
n.1332-292C>G
c.1239G>C (p.Gln413His)
c.1341G>C (p.Gln447His)
c.1281G>C (p.Gln427His)
n.3607-292C>G
n.4043-292C>G
c.1164G>C (p.Gln388His)
c.1182G>C (p.Gln394His)
c.939G>C (p.Gln313His)
c.972G>C (p.Gln324His)
c.990G>C (p.Gln330His)
 dbSNP gnomAD v2 gnomAD v4
2g.127428556G=CA1286884525PROCc.996G= (p.Gln332=)
c.320G=
c.1098G= (p.Gln366=)
c.1179G= (p.Gln393=)
c.1161G= (p.Gln387=)
c.1059G= (p.Gln353=)
n.1332-292C=
c.1239G= (p.Gln413=)
c.1341G= (p.Gln447=)
c.1281G= (p.Gln427=)
n.3607-292C=
n.4043-292C=
c.1164G= (p.Gln388=)
c.1182G= (p.Gln394=)
c.939G= (p.Gln313=)
c.972G= (p.Gln324=)
c.990G= (p.Gln330=)
2g.127428556G>TCA348405305PROCc.996G>T (p.Gln332His)
c.320G>T
c.1098G>T (p.Gln366His)
c.1179G>T (p.Gln393His)
c.1161G>T (p.Gln387His)
c.1059G>T (p.Gln353His)
n.1332-292C>A
c.1239G>T (p.Gln413His)
c.1341G>T (p.Gln447His)
c.1281G>T (p.Gln427His)
n.3607-292C>A
n.4043-292C>A
c.1164G>T (p.Gln388His)
c.1182G>T (p.Gln394His)
c.939G>T (p.Gln313His)
c.972G>T (p.Gln324His)
c.990G>T (p.Gln330His)
2g.127428557G>ACA348405312PROCc.997G>A (p.Ala333Thr)
c.321G>A
c.1099G>A (p.Ala367Thr)
c.1180G>A (p.Ala394Thr)
c.1162G>A (p.Ala388Thr)
c.1060G>A (p.Ala354Thr)
n.1332-293C>T
c.1240G>A (p.Ala414Thr)
c.1342G>A (p.Ala448Thr)
c.1282G>A (p.Ala428Thr)
n.3607-293C>T
n.4043-293C>T
c.1165G>A (p.Ala389Thr)
c.1183G>A (p.Ala395Thr)
c.940G>A (p.Ala314Thr)
c.973G>A (p.Ala325Thr)
c.991G>A (p.Ala331Thr)
 ClinVar
2g.127428557G>CCA348405314PROCc.997G>C (p.Ala333Pro)
c.321G>C
c.1099G>C (p.Ala367Pro)
c.1180G>C (p.Ala394Pro)
c.1162G>C (p.Ala388Pro)
c.1060G>C (p.Ala354Pro)
n.1332-293C>G
c.1240G>C (p.Ala414Pro)
c.1342G>C (p.Ala448Pro)
c.1282G>C (p.Ala428Pro)
n.3607-293C>G
n.4043-293C>G
c.1165G>C (p.Ala389Pro)
c.1183G>C (p.Ala395Pro)
c.940G>C (p.Ala314Pro)
c.973G>C (p.Ala325Pro)
c.991G>C (p.Ala331Pro)
2g.127428557G>TCA348405316PROCc.997G>T (p.Ala333Ser)
c.321G>T
c.1099G>T (p.Ala367Ser)
c.1180G>T (p.Ala394Ser)
c.1162G>T (p.Ala388Ser)
c.1060G>T (p.Ala354Ser)
n.1332-293C>A
c.1240G>T (p.Ala414Ser)
c.1342G>T (p.Ala448Ser)
c.1282G>T (p.Ala428Ser)
n.3607-293C>A
n.4043-293C>A
c.1165G>T (p.Ala389Ser)
c.1183G>T (p.Ala395Ser)
c.940G>T (p.Ala314Ser)
c.973G>T (p.Ala325Ser)
c.991G>T (p.Ala331Ser)
2g.127428558C>ACA348405319PROCc.998C>A (p.Ala333Asp)
c.322C>A
c.1100C>A (p.Ala367Asp)
c.1181C>A (p.Ala394Asp)
c.1163C>A (p.Ala388Asp)
c.1061C>A (p.Ala354Asp)
n.1332-294G>T
c.1241C>A (p.Ala414Asp)
c.1343C>A (p.Ala448Asp)
c.1283C>A (p.Ala428Asp)
n.3607-294G>T
n.4043-294G>T
c.1166C>A (p.Ala389Asp)
c.1184C>A (p.Ala395Asp)
c.941C>A (p.Ala314Asp)
c.974C>A (p.Ala325Asp)
c.992C>A (p.Ala331Asp)
2g.127428558C>GCA348405322PROCc.998C>G (p.Ala333Gly)
c.322C>G
c.1100C>G (p.Ala367Gly)
c.1181C>G (p.Ala394Gly)
c.1163C>G (p.Ala388Gly)
c.1061C>G (p.Ala354Gly)
n.1332-294G>C
c.1241C>G (p.Ala414Gly)
c.1343C>G (p.Ala448Gly)
c.1283C>G (p.Ala428Gly)
n.3607-294G>C
n.4043-294G>C
c.1166C>G (p.Ala389Gly)
c.1184C>G (p.Ala395Gly)
c.941C>G (p.Ala314Gly)
c.974C>G (p.Ala325Gly)
c.992C>G (p.Ala331Gly)
2g.127428558C>TCA348405325PROCc.998C>T (p.Ala333Val)
c.322C>T
c.1100C>T (p.Ala367Val)
c.1181C>T (p.Ala394Val)
c.1163C>T (p.Ala388Val)
c.1061C>T (p.Ala354Val)
n.1332-294G>A
c.1241C>T (p.Ala414Val)
c.1343C>T (p.Ala448Val)
c.1283C>T (p.Ala428Val)
n.3607-294G>A
n.4043-294G>A
c.1166C>T (p.Ala389Val)
c.1184C>T (p.Ala395Val)
c.941C>T (p.Ala314Val)
c.974C>T (p.Ala325Val)
c.992C>T (p.Ala331Val)
 gnomAD v4
2g.127428559C>ACA428871847PROCc.999C>A (p.Ala333=)
c.323C>A
c.1101C>A (p.Ala367=)
c.1182C>A (p.Ala394=)
c.1164C>A (p.Ala388=)
c.1062C>A (p.Ala354=)
n.1332-295G>T
c.1242C>A (p.Ala414=)
c.1344C>A (p.Ala448=)
c.1284C>A (p.Ala428=)
n.3607-295G>T
n.4043-295G>T
c.1167C>A (p.Ala389=)
c.1185C>A (p.Ala395=)
c.942C>A (p.Ala314=)
c.975C>A (p.Ala325=)
c.993C>A (p.Ala331=)
2g.127428559C=CA1286884526PROCc.999C= (p.Ala333=)
c.323C=
c.1101C= (p.Ala367=)
c.1182C= (p.Ala394=)
c.1164C= (p.Ala388=)
c.1062C= (p.Ala354=)
n.1332-295G=
c.1242C= (p.Ala414=)
c.1344C= (p.Ala448=)
c.1284C= (p.Ala428=)
n.3607-295G=
n.4043-295G=
c.1167C= (p.Ala389=)
c.1185C= (p.Ala395=)
c.942C= (p.Ala314=)
c.975C= (p.Ala325=)
c.993C= (p.Ala331=)
2g.127428559C>GCA428871849PROCc.999C>G (p.Ala333=)
c.323C>G
c.1101C>G (p.Ala367=)
c.1182C>G (p.Ala394=)
c.1164C>G (p.Ala388=)
c.1062C>G (p.Ala354=)
n.1332-295G>C
c.1242C>G (p.Ala414=)
c.1344C>G (p.Ala448=)
c.1284C>G (p.Ala428=)
n.3607-295G>C
n.4043-295G>C
c.1167C>G (p.Ala389=)
c.1185C>G (p.Ala395=)
c.942C>G (p.Ala314=)
c.975C>G (p.Ala325=)
c.993C>G (p.Ala331=)
2g.127428559C>TCA1859502PROCc.999C>T (p.Ala333=)
c.323C>T
c.1101C>T (p.Ala367=)
c.1182C>T (p.Ala394=)
c.1164C>T (p.Ala388=)
c.1062C>T (p.Ala354=)
n.1332-295G>A
c.1242C>T (p.Ala414=)
c.1344C>T (p.Ala448=)
c.1284C>T (p.Ala428=)
n.3607-295G>A
n.4043-295G>A
c.1167C>T (p.Ala389=)
c.1185C>T (p.Ala395=)
c.942C>T (p.Ala314=)
c.975C>T (p.Ala325=)
c.993C>T (p.Ala331=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428560G>ACA114406PROCc.1000G>A (p.Gly334Ser)
c.324G>A
c.1102G>A (p.Gly368Ser)
c.1183G>A (p.Gly395Ser)
c.1165G>A (p.Gly389Ser)
c.1063G>A (p.Gly355Ser)
n.1332-296C>T
c.1243G>A (p.Gly415Ser)
c.1345G>A (p.Gly449Ser)
c.1285G>A (p.Gly429Ser)
n.3607-296C>T
n.4043-296C>T
c.1168G>A (p.Gly390Ser)
c.1186G>A (p.Gly396Ser)
c.943G>A (p.Gly315Ser)
c.976G>A (p.Gly326Ser)
c.994G>A (p.Gly332Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428560G>CCA348405332PROCc.1000G>C (p.Gly334Arg)
c.324G>C
c.1102G>C (p.Gly368Arg)
c.1183G>C (p.Gly395Arg)
c.1165G>C (p.Gly389Arg)
c.1063G>C (p.Gly355Arg)
n.1332-296C>G
c.1243G>C (p.Gly415Arg)
c.1345G>C (p.Gly449Arg)
c.1285G>C (p.Gly429Arg)
n.3607-296C>G
n.4043-296C>G
c.1168G>C (p.Gly390Arg)
c.1186G>C (p.Gly396Arg)
c.943G>C (p.Gly315Arg)
c.976G>C (p.Gly326Arg)
c.994G>C (p.Gly332Arg)
 dbSNP
2g.127428560G=CA1286884527PROCc.1000G= (p.Gly334=)
c.324G=
c.1102G= (p.Gly368=)
c.1183G= (p.Gly395=)
c.1165G= (p.Gly389=)
c.1063G= (p.Gly355=)
n.1332-296C=
c.1243G= (p.Gly415=)
c.1345G= (p.Gly449=)
c.1285G= (p.Gly429=)
n.3607-296C=
n.4043-296C=
c.1168G= (p.Gly390=)
c.1186G= (p.Gly396=)
c.943G= (p.Gly315=)
c.976G= (p.Gly326=)
c.994G= (p.Gly332=)
2g.127428560G>TCA348405334PROCc.1000G>T (p.Gly334Cys)
c.324G>T
c.1102G>T (p.Gly368Cys)
c.1183G>T (p.Gly395Cys)
c.1165G>T (p.Gly389Cys)
c.1063G>T (p.Gly355Cys)
n.1332-296C>A
c.1243G>T (p.Gly415Cys)
c.1345G>T (p.Gly449Cys)
c.1285G>T (p.Gly429Cys)
n.3607-296C>A
n.4043-296C>A
c.1168G>T (p.Gly390Cys)
c.1186G>T (p.Gly396Cys)
c.943G>T (p.Gly315Cys)
c.976G>T (p.Gly326Cys)
c.994G>T (p.Gly332Cys)
 ClinVar dbSNP gnomAD v2
2g.127428561G>ACA348405344PROCc.1001G>A (p.Gly334Asp)
c.325G>A
c.1103G>A (p.Gly368Asp)
c.1184G>A (p.Gly395Asp)
c.1166G>A (p.Gly389Asp)
c.1064G>A (p.Gly355Asp)
n.1332-297C>T
c.1244G>A (p.Gly415Asp)
c.1346G>A (p.Gly449Asp)
c.1286G>A (p.Gly429Asp)
n.3607-297C>T
n.4043-297C>T
c.1169G>A (p.Gly390Asp)
c.1187G>A (p.Gly396Asp)
c.944G>A (p.Gly315Asp)
c.977G>A (p.Gly326Asp)
c.995G>A (p.Gly332Asp)
2g.127428561G>CCA348405351PROCc.1001G>C (p.Gly334Ala)
c.325G>C
c.1103G>C (p.Gly368Ala)
c.1184G>C (p.Gly395Ala)
c.1166G>C (p.Gly389Ala)
c.1064G>C (p.Gly355Ala)
n.1332-297C>G
c.1244G>C (p.Gly415Ala)
c.1346G>C (p.Gly449Ala)
c.1286G>C (p.Gly429Ala)
n.3607-297C>G
n.4043-297C>G
c.1169G>C (p.Gly390Ala)
c.1187G>C (p.Gly396Ala)
c.944G>C (p.Gly315Ala)
c.977G>C (p.Gly326Ala)
c.995G>C (p.Gly332Ala)
2g.127428561G>TCA348405352PROCc.1001G>T (p.Gly334Val)
c.325G>T
c.1103G>T (p.Gly368Val)
c.1184G>T (p.Gly395Val)
c.1166G>T (p.Gly389Val)
c.1064G>T (p.Gly355Val)
n.1332-297C>A
c.1244G>T (p.Gly415Val)
c.1346G>T (p.Gly449Val)
c.1286G>T (p.Gly429Val)
n.3607-297C>A
n.4043-297C>A
c.1169G>T (p.Gly390Val)
c.1187G>T (p.Gly396Val)
c.944G>T (p.Gly315Val)
c.977G>T (p.Gly326Val)
c.995G>T (p.Gly332Val)
2g.127428562C>ACA428871861PROCc.1002C>A (p.Gly334=)
c.326C>A
c.1104C>A (p.Gly368=)
c.1185C>A (p.Gly395=)
c.1167C>A (p.Gly389=)
c.1065C>A (p.Gly355=)
n.1332-298G>T
c.1245C>A (p.Gly415=)
c.1347C>A (p.Gly449=)
c.1287C>A (p.Gly429=)
n.3607-298G>T
n.4043-298G>T
c.1170C>A (p.Gly390=)
c.1188C>A (p.Gly396=)
c.945C>A (p.Gly315=)
c.978C>A (p.Gly326=)
c.996C>A (p.Gly332=)
 gnomAD v4 COSMIC COSMIC
2g.127428562C>GCA428871863PROCc.1002C>G (p.Gly334=)
c.326C>G
c.1104C>G (p.Gly368=)
c.1185C>G (p.Gly395=)
c.1167C>G (p.Gly389=)
c.1065C>G (p.Gly355=)
n.1332-298G>C
c.1245C>G (p.Gly415=)
c.1347C>G (p.Gly449=)
c.1287C>G (p.Gly429=)
n.3607-298G>C
n.4043-298G>C
c.1170C>G (p.Gly390=)
c.1188C>G (p.Gly396=)
c.945C>G (p.Gly315=)
c.978C>G (p.Gly326=)
c.996C>G (p.Gly332=)
 gnomAD v4
2g.127428562C>TCA428871866PROCc.1002C>T (p.Gly334=)
c.326C>T
c.1104C>T (p.Gly368=)
c.1185C>T (p.Gly395=)
c.1167C>T (p.Gly389=)
c.1065C>T (p.Gly355=)
n.1332-298G>A
c.1245C>T (p.Gly415=)
c.1347C>T (p.Gly449=)
c.1287C>T (p.Gly429=)
n.3607-298G>A
n.4043-298G>A
c.1170C>T (p.Gly390=)
c.1188C>T (p.Gly396=)
c.945C>T (p.Gly315=)
c.978C>T (p.Gly326=)
c.996C>T (p.Gly332=)
2g.127428563C>ACA348405359PROCc.1003C>A (p.Gln335Lys)
c.327C>A
c.1105C>A (p.Gln369Lys)
c.1186C>A (p.Gln396Lys)
c.1168C>A (p.Gln390Lys)
c.1066C>A (p.Gln356Lys)
n.1332-299G>T
c.1246C>A (p.Gln416Lys)
c.1348C>A (p.Gln450Lys)
c.1288C>A (p.Gln430Lys)
n.3607-299G>T
n.4043-299G>T
c.1171C>A (p.Gln391Lys)
c.1189C>A (p.Gln397Lys)
c.946C>A (p.Gln316Lys)
c.979C>A (p.Gln327Lys)
c.997C>A (p.Gln333Lys)
2g.127428563C>GCA348405361PROCc.1003C>G (p.Gln335Glu)
c.327C>G
c.1105C>G (p.Gln369Glu)
c.1186C>G (p.Gln396Glu)
c.1168C>G (p.Gln390Glu)
c.1066C>G (p.Gln356Glu)
n.1332-299G>C
c.1246C>G (p.Gln416Glu)
c.1348C>G (p.Gln450Glu)
c.1288C>G (p.Gln430Glu)
n.3607-299G>C
n.4043-299G>C
c.1171C>G (p.Gln391Glu)
c.1189C>G (p.Gln397Glu)
c.946C>G (p.Gln316Glu)
c.979C>G (p.Gln327Glu)
c.997C>G (p.Gln333Glu)
2g.127428563C>TCA348405356PROCc.1003C>T (p.Gln335Ter)
c.327C>T
c.1105C>T (p.Gln369Ter)
c.1186C>T (p.Gln396Ter)
c.1168C>T (p.Gln390Ter)
c.1066C>T (p.Gln356Ter)
n.1332-299G>A
c.1246C>T (p.Gln416Ter)
c.1348C>T (p.Gln450Ter)
c.1288C>T (p.Gln430Ter)
n.3607-299G>A
n.4043-299G>A
c.1171C>T (p.Gln391Ter)
c.1189C>T (p.Gln397Ter)
c.946C>T (p.Gln316Ter)
c.979C>T (p.Gln327Ter)
c.997C>T (p.Gln333Ter)
2g.127428564A>CCA348405365PROCc.1004A>C (p.Gln335Pro)
c.328A>C
c.1106A>C (p.Gln369Pro)
c.1187A>C (p.Gln396Pro)
c.1169A>C (p.Gln390Pro)
c.1067A>C (p.Gln356Pro)
n.1332-300T>G
c.1247A>C (p.Gln416Pro)
c.1349A>C (p.Gln450Pro)
c.1289A>C (p.Gln430Pro)
n.3607-300T>G
n.4043-300T>G
c.1172A>C (p.Gln391Pro)
c.1190A>C (p.Gln397Pro)
c.947A>C (p.Gln316Pro)
c.980A>C (p.Gln327Pro)
c.998A>C (p.Gln333Pro)
2g.127428564A>GCA348405368PROCc.1004A>G (p.Gln335Arg)
c.328A>G
c.1106A>G (p.Gln369Arg)
c.1187A>G (p.Gln396Arg)
c.1169A>G (p.Gln390Arg)
c.1067A>G (p.Gln356Arg)
n.1332-300T>C
c.1247A>G (p.Gln416Arg)
c.1349A>G (p.Gln450Arg)
c.1289A>G (p.Gln430Arg)
n.3607-300T>C
n.4043-300T>C
c.1172A>G (p.Gln391Arg)
c.1190A>G (p.Gln397Arg)
c.947A>G (p.Gln316Arg)
c.980A>G (p.Gln327Arg)
c.998A>G (p.Gln333Arg)
2g.127428564A>TCA348405369PROCc.1004A>T (p.Gln335Leu)
c.328A>T
c.1106A>T (p.Gln369Leu)
c.1187A>T (p.Gln396Leu)
c.1169A>T (p.Gln390Leu)
c.1067A>T (p.Gln356Leu)
n.1332-300T>A
c.1247A>T (p.Gln416Leu)
c.1349A>T (p.Gln450Leu)
c.1289A>T (p.Gln430Leu)
n.3607-300T>A
n.4043-300T>A
c.1172A>T (p.Gln391Leu)
c.1190A>T (p.Gln397Leu)
c.947A>T (p.Gln316Leu)
c.980A>T (p.Gln327Leu)
c.998A>T (p.Gln333Leu)
2g.127428565G>ACA428871877PROCc.1005G>A (p.Gln335=)
c.329G>A
c.1107G>A (p.Gln369=)
c.1188G>A (p.Gln396=)
c.1170G>A (p.Gln390=)
c.1068G>A (p.Gln356=)
n.1332-301C>T
c.1248G>A (p.Gln416=)
c.1350G>A (p.Gln450=)
c.1290G>A (p.Gln430=)
n.3607-301C>T
n.4043-301C>T
c.1173G>A (p.Gln391=)
c.1191G>A (p.Gln397=)
c.948G>A (p.Gln316=)
c.981G>A (p.Gln327=)
c.999G>A (p.Gln333=)
 ClinVar gnomAD v4
2g.127428565G>CCA348405376PROCc.1005G>C (p.Gln335His)
c.329G>C
c.1107G>C (p.Gln369His)
c.1188G>C (p.Gln396His)
c.1170G>C (p.Gln390His)
c.1068G>C (p.Gln356His)
n.1332-301C>G
c.1248G>C (p.Gln416His)
c.1350G>C (p.Gln450His)
c.1290G>C (p.Gln430His)
n.3607-301C>G
n.4043-301C>G
c.1173G>C (p.Gln391His)
c.1191G>C (p.Gln397His)
c.948G>C (p.Gln316His)
c.981G>C (p.Gln327His)
c.999G>C (p.Gln333His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428565G=CA1286884528PROCc.1005G= (p.Gln335=)
c.329G=
c.1107G= (p.Gln369=)
c.1188G= (p.Gln396=)
c.1170G= (p.Gln390=)
c.1068G= (p.Gln356=)
n.1332-301C=
c.1248G= (p.Gln416=)
c.1350G= (p.Gln450=)
c.1290G= (p.Gln430=)
n.3607-301C=
n.4043-301C=
c.1173G= (p.Gln391=)
c.1191G= (p.Gln397=)
c.948G= (p.Gln316=)
c.981G= (p.Gln327=)
c.999G= (p.Gln333=)
2g.127428565G>TCA348405378PROCc.1005G>T (p.Gln335His)
c.329G>T
c.1107G>T (p.Gln369His)
c.1188G>T (p.Gln396His)
c.1170G>T (p.Gln390His)
c.1068G>T (p.Gln356His)
n.1332-301C>A
c.1248G>T (p.Gln416His)
c.1350G>T (p.Gln450His)
c.1290G>T (p.Gln430His)
n.3607-301C>A
n.4043-301C>A
c.1173G>T (p.Gln391His)
c.1191G>T (p.Gln397His)
c.948G>T (p.Gln316His)
c.981G>T (p.Gln327His)
c.999G>T (p.Gln333His)
2g.127428566G>ACA348405382PROCc.1006G>A (p.Glu336Lys)
c.330G>A
c.1108G>A (p.Glu370Lys)
c.1189G>A (p.Glu397Lys)
c.1171G>A (p.Glu391Lys)
c.1069G>A (p.Glu357Lys)
n.1332-302C>T
c.1249G>A (p.Glu417Lys)
c.1351G>A (p.Glu451Lys)
c.1291G>A (p.Glu431Lys)
n.3607-302C>T
n.4043-302C>T
c.1174G>A (p.Glu392Lys)
c.1192G>A (p.Glu398Lys)
c.949G>A (p.Glu317Lys)
c.982G>A (p.Glu328Lys)
c.1000G>A (p.Glu334Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428566G>CCA348405384PROCc.1006G>C (p.Glu336Gln)
c.330G>C
c.1108G>C (p.Glu370Gln)
c.1189G>C (p.Glu397Gln)
c.1171G>C (p.Glu391Gln)
c.1069G>C (p.Glu357Gln)
n.1332-302C>G
c.1249G>C (p.Glu417Gln)
c.1351G>C (p.Glu451Gln)
c.1291G>C (p.Glu431Gln)
n.3607-302C>G
n.4043-302C>G
c.1174G>C (p.Glu392Gln)
c.1192G>C (p.Glu398Gln)
c.949G>C (p.Glu317Gln)
c.982G>C (p.Glu328Gln)
c.1000G>C (p.Glu334Gln)
2g.127428566G=CA1286884529PROCc.1006G= (p.Glu336=)
c.330G=
c.1108G= (p.Glu370=)
c.1189G= (p.Glu397=)
c.1171G= (p.Glu391=)
c.1069G= (p.Glu357=)
n.1332-302C=
c.1249G= (p.Glu417=)
c.1351G= (p.Glu451=)
c.1291G= (p.Glu431=)
n.3607-302C=
n.4043-302C=
c.1174G= (p.Glu392=)
c.1192G= (p.Glu398=)
c.949G= (p.Glu317=)
c.982G= (p.Glu328=)
c.1000G= (p.Glu334=)
2g.127428566G>TCA348405386PROCc.1006G>T (p.Glu336Ter)
c.330G>T
c.1108G>T (p.Glu370Ter)
c.1189G>T (p.Glu397Ter)
c.1171G>T (p.Glu391Ter)
c.1069G>T (p.Glu357Ter)
n.1332-302C>A
c.1249G>T (p.Glu417Ter)
c.1351G>T (p.Glu451Ter)
c.1291G>T (p.Glu431Ter)
n.3607-302C>A
n.4043-302C>A
c.1174G>T (p.Glu392Ter)
c.1192G>T (p.Glu398Ter)
c.949G>T (p.Glu317Ter)
c.982G>T (p.Glu328Ter)
c.1000G>T (p.Glu334Ter)
2g.127428567A>CCA348405391PROCc.1007A>C (p.Glu336Ala)
c.331A>C
c.1109A>C (p.Glu370Ala)
c.1190A>C (p.Glu397Ala)
c.1172A>C (p.Glu391Ala)
c.1070A>C (p.Glu357Ala)
n.1332-303T>G
c.1250A>C (p.Glu417Ala)
c.1352A>C (p.Glu451Ala)
c.1292A>C (p.Glu431Ala)
n.3607-303T>G
n.4043-303T>G
c.1175A>C (p.Glu392Ala)
c.1193A>C (p.Glu398Ala)
c.950A>C (p.Glu317Ala)
c.983A>C (p.Glu328Ala)
c.1001A>C (p.Glu334Ala)
2g.127428567A>GCA348405393PROCc.1007A>G (p.Glu336Gly)
c.331A>G
c.1109A>G (p.Glu370Gly)
c.1190A>G (p.Glu397Gly)
c.1172A>G (p.Glu391Gly)
c.1070A>G (p.Glu357Gly)
n.1332-303T>C
c.1250A>G (p.Glu417Gly)
c.1352A>G (p.Glu451Gly)
c.1292A>G (p.Glu431Gly)
n.3607-303T>C
n.4043-303T>C
c.1175A>G (p.Glu392Gly)
c.1193A>G (p.Glu398Gly)
c.950A>G (p.Glu317Gly)
c.983A>G (p.Glu328Gly)
c.1001A>G (p.Glu334Gly)
2g.127428567A>TCA348405397PROCc.1007A>T (p.Glu336Val)
c.331A>T
c.1109A>T (p.Glu370Val)
c.1190A>T (p.Glu397Val)
c.1172A>T (p.Glu391Val)
c.1070A>T (p.Glu357Val)
n.1332-303T>A
c.1250A>T (p.Glu417Val)
c.1352A>T (p.Glu451Val)
c.1292A>T (p.Glu431Val)
n.3607-303T>A
n.4043-303T>A
c.1175A>T (p.Glu392Val)
c.1193A>T (p.Glu398Val)
c.950A>T (p.Glu317Val)
c.983A>T (p.Glu328Val)
c.1001A>T (p.Glu334Val)
2g.127428568G>ACA428871894PROCc.1008G>A (p.Glu336=)
c.332G>A
c.1110G>A (p.Glu370=)
c.1191G>A (p.Glu397=)
c.1173G>A (p.Glu391=)
c.1071G>A (p.Glu357=)
n.1332-304C>T
c.1251G>A (p.Glu417=)
c.1353G>A (p.Glu451=)
c.1293G>A (p.Glu431=)
n.3607-304C>T
n.4043-304C>T
c.1176G>A (p.Glu392=)
c.1194G>A (p.Glu398=)
c.951G>A (p.Glu317=)
c.984G>A (p.Glu328=)
c.1002G>A (p.Glu334=)
2g.127428568G>CCA348405398PROCc.1008G>C (p.Glu336Asp)
c.332G>C
c.1110G>C (p.Glu370Asp)
c.1191G>C (p.Glu397Asp)
c.1173G>C (p.Glu391Asp)
c.1071G>C (p.Glu357Asp)
n.1332-304C>G
c.1251G>C (p.Glu417Asp)
c.1353G>C (p.Glu451Asp)
c.1293G>C (p.Glu431Asp)
n.3607-304C>G
n.4043-304C>G
c.1176G>C (p.Glu392Asp)
c.1194G>C (p.Glu398Asp)
c.951G>C (p.Glu317Asp)
c.984G>C (p.Glu328Asp)
c.1002G>C (p.Glu334Asp)
2g.127428568G>TCA348405401PROCc.1008G>T (p.Glu336Asp)
c.332G>T
c.1110G>T (p.Glu370Asp)
c.1191G>T (p.Glu397Asp)
c.1173G>T (p.Glu391Asp)
c.1071G>T (p.Glu357Asp)
n.1332-304C>A
c.1251G>T (p.Glu417Asp)
c.1353G>T (p.Glu451Asp)
c.1293G>T (p.Glu431Asp)
n.3607-304C>A
n.4043-304C>A
c.1176G>T (p.Glu392Asp)
c.1194G>T (p.Glu398Asp)
c.951G>T (p.Glu317Asp)
c.984G>T (p.Glu328Asp)
c.1002G>T (p.Glu334Asp)
2g.127428569A>CCA348405408PROCc.1009A>C (p.Thr337Pro)
c.333A>C
c.1111A>C (p.Thr371Pro)
c.1192A>C (p.Thr398Pro)
c.1174A>C (p.Thr392Pro)
c.1072A>C (p.Thr358Pro)
n.1332-305T>G
c.1252A>C (p.Thr418Pro)
c.1354A>C (p.Thr452Pro)
c.1294A>C (p.Thr432Pro)
n.3607-305T>G
n.4043-305T>G
c.1177A>C (p.Thr393Pro)
c.1195A>C (p.Thr399Pro)
c.952A>C (p.Thr318Pro)
c.985A>C (p.Thr329Pro)
c.1003A>C (p.Thr335Pro)
2g.127428569A>GCA348405407PROCc.1009A>G (p.Thr337Ala)
c.333A>G
c.1111A>G (p.Thr371Ala)
c.1192A>G (p.Thr398Ala)
c.1174A>G (p.Thr392Ala)
c.1072A>G (p.Thr358Ala)
n.1332-305T>C
c.1252A>G (p.Thr418Ala)
c.1354A>G (p.Thr452Ala)
c.1294A>G (p.Thr432Ala)
n.3607-305T>C
n.4043-305T>C
c.1177A>G (p.Thr393Ala)
c.1195A>G (p.Thr399Ala)
c.952A>G (p.Thr318Ala)
c.985A>G (p.Thr329Ala)
c.1003A>G (p.Thr335Ala)
2g.127428569A>TCA348405405PROCc.1009A>T (p.Thr337Ser)
c.333A>T
c.1111A>T (p.Thr371Ser)
c.1192A>T (p.Thr398Ser)
c.1174A>T (p.Thr392Ser)
c.1072A>T (p.Thr358Ser)
n.1332-305T>A
c.1252A>T (p.Thr418Ser)
c.1354A>T (p.Thr452Ser)
c.1294A>T (p.Thr432Ser)
n.3607-305T>A
n.4043-305T>A
c.1177A>T (p.Thr393Ser)
c.1195A>T (p.Thr399Ser)
c.952A>T (p.Thr318Ser)
c.985A>T (p.Thr329Ser)
c.1003A>T (p.Thr335Ser)
2g.127428570C>ACA348405412PROCc.1010C>A (p.Thr337Asn)
c.334C>A
c.1112C>A (p.Thr371Asn)
c.1193C>A (p.Thr398Asn)
c.1175C>A (p.Thr392Asn)
c.1073C>A (p.Thr358Asn)
n.1332-306G>T
c.1253C>A (p.Thr418Asn)
c.1355C>A (p.Thr452Asn)
c.1295C>A (p.Thr432Asn)
n.3607-306G>T
n.4043-306G>T
c.1178C>A (p.Thr393Asn)
c.1196C>A (p.Thr399Asn)
c.953C>A (p.Thr318Asn)
c.986C>A (p.Thr329Asn)
c.1004C>A (p.Thr335Asn)
2g.127428570C=CA1286884530PROCc.1010C= (p.Thr337=)
c.334C=
c.1112C= (p.Thr371=)
c.1193C= (p.Thr398=)
c.1175C= (p.Thr392=)
c.1073C= (p.Thr358=)
n.1332-306G=
c.1253C= (p.Thr418=)
c.1355C= (p.Thr452=)
c.1295C= (p.Thr432=)
n.3607-306G=
n.4043-306G=
c.1178C= (p.Thr393=)
c.1196C= (p.Thr399=)
c.953C= (p.Thr318=)
c.986C= (p.Thr329=)
c.1004C= (p.Thr335=)
2g.127428570C>GCA348405415PROCc.1010C>G (p.Thr337Ser)
c.334C>G
c.1112C>G (p.Thr371Ser)
c.1193C>G (p.Thr398Ser)
c.1175C>G (p.Thr392Ser)
c.1073C>G (p.Thr358Ser)
n.1332-306G>C
c.1253C>G (p.Thr418Ser)
c.1355C>G (p.Thr452Ser)
c.1295C>G (p.Thr432Ser)
n.3607-306G>C
n.4043-306G>C
c.1178C>G (p.Thr393Ser)
c.1196C>G (p.Thr399Ser)
c.953C>G (p.Thr318Ser)
c.986C>G (p.Thr329Ser)
c.1004C>G (p.Thr335Ser)
2g.127428570C>TCA211727PROCc.1010C>T (p.Thr337Ile)
c.334C>T
c.1112C>T (p.Thr371Ile)
c.1193C>T (p.Thr398Ile)
c.1175C>T (p.Thr392Ile)
c.1073C>T (p.Thr358Ile)
n.1332-306G>A
c.1253C>T (p.Thr418Ile)
c.1355C>T (p.Thr452Ile)
c.1295C>T (p.Thr432Ile)
n.3607-306G>A
n.4043-306G>A
c.1178C>T (p.Thr393Ile)
c.1196C>T (p.Thr399Ile)
c.953C>T (p.Thr318Ile)
c.986C>T (p.Thr329Ile)
c.1004C>T (p.Thr335Ile)
 ClinVar dbSNP ExAC gnomAD v2
2g.127428571C>ACA428871904PROCc.1011C>A (p.Thr337=)
c.335C>A
c.1113C>A (p.Thr371=)
c.1194C>A (p.Thr398=)
c.1176C>A (p.Thr392=)
c.1074C>A (p.Thr358=)
n.1332-307G>T
c.1254C>A (p.Thr418=)
c.1356C>A (p.Thr452=)
c.1296C>A (p.Thr432=)
n.3607-307G>T
n.4043-307G>T
c.1179C>A (p.Thr393=)
c.1197C>A (p.Thr399=)
c.954C>A (p.Thr318=)
c.987C>A (p.Thr329=)
c.1005C>A (p.Thr335=)
2g.127428571C>GCA428871906PROCc.1011C>G (p.Thr337=)
c.335C>G
c.1113C>G (p.Thr371=)
c.1194C>G (p.Thr398=)
c.1176C>G (p.Thr392=)
c.1074C>G (p.Thr358=)
n.1332-307G>C
c.1254C>G (p.Thr418=)
c.1356C>G (p.Thr452=)
c.1296C>G (p.Thr432=)
n.3607-307G>C
n.4043-307G>C
c.1179C>G (p.Thr393=)
c.1197C>G (p.Thr399=)
c.954C>G (p.Thr318=)
c.987C>G (p.Thr329=)
c.1005C>G (p.Thr335=)
2g.127428571C>TCA428871908PROCc.1011C>T (p.Thr337=)
c.335C>T
c.1113C>T (p.Thr371=)
c.1194C>T (p.Thr398=)
c.1176C>T (p.Thr392=)
c.1074C>T (p.Thr358=)
n.1332-307G>A
c.1254C>T (p.Thr418=)
c.1356C>T (p.Thr452=)
c.1296C>T (p.Thr432=)
n.3607-307G>A
n.4043-307G>A
c.1179C>T (p.Thr393=)
c.1197C>T (p.Thr399=)
c.954C>T (p.Thr318=)
c.987C>T (p.Thr329=)
c.1005C>T (p.Thr335=)
2g.127428572C>ACA348405421PROCc.1012C>A (p.Leu338Ile)
c.336C>A
c.1114C>A (p.Leu372Ile)
c.1195C>A (p.Leu399Ile)
c.1177C>A (p.Leu393Ile)
c.1075C>A (p.Leu359Ile)
n.1332-308G>T
c.1255C>A (p.Leu419Ile)
c.1357C>A (p.Leu453Ile)
c.1297C>A (p.Leu433Ile)
n.3607-308G>T
n.4043-308G>T
c.1180C>A (p.Leu394Ile)
c.1198C>A (p.Leu400Ile)
c.955C>A (p.Leu319Ile)
c.988C>A (p.Leu330Ile)
c.1006C>A (p.Leu336Ile)
2g.127428572C>GCA348405427PROCc.1012C>G (p.Leu338Val)
c.336C>G
c.1114C>G (p.Leu372Val)
c.1195C>G (p.Leu399Val)
c.1177C>G (p.Leu393Val)
c.1075C>G (p.Leu359Val)
n.1332-308G>C
c.1255C>G (p.Leu419Val)
c.1357C>G (p.Leu453Val)
c.1297C>G (p.Leu433Val)
n.3607-308G>C
n.4043-308G>C
c.1180C>G (p.Leu394Val)
c.1198C>G (p.Leu400Val)
c.955C>G (p.Leu319Val)
c.988C>G (p.Leu330Val)
c.1006C>G (p.Leu336Val)
 gnomAD v4
2g.127428572C>TCA348405429PROCc.1012C>T (p.Leu338Phe)
c.336C>T
c.1114C>T (p.Leu372Phe)
c.1195C>T (p.Leu399Phe)
c.1177C>T (p.Leu393Phe)
c.1075C>T (p.Leu359Phe)
n.1332-308G>A
c.1255C>T (p.Leu419Phe)
c.1357C>T (p.Leu453Phe)
c.1297C>T (p.Leu433Phe)
n.3607-308G>A
n.4043-308G>A
c.1180C>T (p.Leu394Phe)
c.1198C>T (p.Leu400Phe)
c.955C>T (p.Leu319Phe)
c.988C>T (p.Leu330Phe)
c.1006C>T (p.Leu336Phe)
2g.127428573T>ACA348405432PROCc.1013T>A (p.Leu338His)
c.337T>A
c.1115T>A (p.Leu372His)
c.1196T>A (p.Leu399His)
c.1178T>A (p.Leu393His)
c.1076T>A (p.Leu359His)
n.1332-309A>T
c.1256T>A (p.Leu419His)
c.1358T>A (p.Leu453His)
c.1298T>A (p.Leu433His)
n.3607-309A>T
n.4043-309A>T
c.1181T>A (p.Leu394His)
c.1199T>A (p.Leu400His)
c.956T>A (p.Leu319His)
c.989T>A (p.Leu330His)
c.1007T>A (p.Leu336His)
 gnomAD v4
2g.127428573T>CCA348405436PROCc.1013T>C (p.Leu338Pro)
c.337T>C
c.1115T>C (p.Leu372Pro)
c.1196T>C (p.Leu399Pro)
c.1178T>C (p.Leu393Pro)
c.1076T>C (p.Leu359Pro)
n.1332-309A>G
c.1256T>C (p.Leu419Pro)
c.1358T>C (p.Leu453Pro)
c.1298T>C (p.Leu433Pro)
n.3607-309A>G
n.4043-309A>G
c.1181T>C (p.Leu394Pro)
c.1199T>C (p.Leu400Pro)
c.956T>C (p.Leu319Pro)
c.989T>C (p.Leu330Pro)
c.1007T>C (p.Leu336Pro)
2g.127428573T>GCA348405438PROCc.1013T>G (p.Leu338Arg)
c.337T>G
c.1115T>G (p.Leu372Arg)
c.1196T>G (p.Leu399Arg)
c.1178T>G (p.Leu393Arg)
c.1076T>G (p.Leu359Arg)
n.1332-309A>C
c.1256T>G (p.Leu419Arg)
c.1358T>G (p.Leu453Arg)
c.1298T>G (p.Leu433Arg)
n.3607-309A>C
n.4043-309A>C
c.1181T>G (p.Leu394Arg)
c.1199T>G (p.Leu400Arg)
c.956T>G (p.Leu319Arg)
c.989T>G (p.Leu330Arg)
c.1007T>G (p.Leu336Arg)
2g.127428574C>ACA428871919PROCc.1014C>A (p.Leu338=)
c.338C>A
c.1116C>A (p.Leu372=)
c.1197C>A (p.Leu399=)
c.1179C>A (p.Leu393=)
c.1077C>A (p.Leu359=)
n.1332-310G>T
c.1257C>A (p.Leu419=)
c.1359C>A (p.Leu453=)
c.1299C>A (p.Leu433=)
n.3607-310G>T
n.4043-310G>T
c.1182C>A (p.Leu394=)
c.1200C>A (p.Leu400=)
c.957C>A (p.Leu319=)
c.990C>A (p.Leu330=)
c.1008C>A (p.Leu336=)
2g.127428574C=CA1286884531PROCc.1014C= (p.Leu338=)
c.338C=
c.1116C= (p.Leu372=)
c.1197C= (p.Leu399=)
c.1179C= (p.Leu393=)
c.1077C= (p.Leu359=)
n.1332-310G=
c.1257C= (p.Leu419=)
c.1359C= (p.Leu453=)
c.1299C= (p.Leu433=)
n.3607-310G=
n.4043-310G=
c.1182C= (p.Leu394=)
c.1200C= (p.Leu400=)
c.957C= (p.Leu319=)
c.990C= (p.Leu330=)
c.1008C= (p.Leu336=)
2g.127428574C>GCA428871923PROCc.1014C>G (p.Leu338=)
c.338C>G
c.1116C>G (p.Leu372=)
c.1197C>G (p.Leu399=)
c.1179C>G (p.Leu393=)
c.1077C>G (p.Leu359=)
n.1332-310G>C
c.1257C>G (p.Leu419=)
c.1359C>G (p.Leu453=)
c.1299C>G (p.Leu433=)
n.3607-310G>C
n.4043-310G>C
c.1182C>G (p.Leu394=)
c.1200C>G (p.Leu400=)
c.957C>G (p.Leu319=)
c.990C>G (p.Leu330=)
c.1008C>G (p.Leu336=)
2g.127428574C>TCA1859503PROCc.1014C>T (p.Leu338=)
c.338C>T
c.1116C>T (p.Leu372=)
c.1197C>T (p.Leu399=)
c.1179C>T (p.Leu393=)
c.1077C>T (p.Leu359=)
n.1332-310G>A
c.1257C>T (p.Leu419=)
c.1359C>T (p.Leu453=)
c.1299C>T (p.Leu433=)
n.3607-310G>A
n.4043-310G>A
c.1182C>T (p.Leu394=)
c.1200C>T (p.Leu400=)
c.957C>T (p.Leu319=)
c.990C>T (p.Leu330=)
c.1008C>T (p.Leu336=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428575G>ACA114425PROCc.1015G>A (p.Val339Met)
c.339G>A
c.1117G>A (p.Val373Met)
c.1198G>A (p.Val400Met)
c.1180G>A (p.Val394Met)
c.1078G>A (p.Val360Met)
n.1332-311C>T
c.1258G>A (p.Val420Met)
c.1360G>A (p.Val454Met)
c.1300G>A (p.Val434Met)
n.3607-311C>T
n.4043-311C>T
c.1183G>A (p.Val395Met)
c.1201G>A (p.Val401Met)
c.958G>A (p.Val320Met)
c.991G>A (p.Val331Met)
c.1009G>A (p.Val337Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428575G>CCA348405447PROCc.1015G>C (p.Val339Leu)
c.339G>C
c.1117G>C (p.Val373Leu)
c.1198G>C (p.Val400Leu)
c.1180G>C (p.Val394Leu)
c.1078G>C (p.Val360Leu)
n.1332-311C>G
c.1258G>C (p.Val420Leu)
c.1360G>C (p.Val454Leu)
c.1300G>C (p.Val434Leu)
n.3607-311C>G
n.4043-311C>G
c.1183G>C (p.Val395Leu)
c.1201G>C (p.Val401Leu)
c.958G>C (p.Val320Leu)
c.991G>C (p.Val331Leu)
c.1009G>C (p.Val337Leu)
2g.127428575G=CA1286884532PROCc.1015G= (p.Val339=)
c.339G=
c.1117G= (p.Val373=)
c.1198G= (p.Val400=)
c.1180G= (p.Val394=)
c.1078G= (p.Val360=)
n.1332-311C=
c.1258G= (p.Val420=)
c.1360G= (p.Val454=)
c.1300G= (p.Val434=)
n.3607-311C=
n.4043-311C=
c.1183G= (p.Val395=)
c.1201G= (p.Val401=)
c.958G= (p.Val320=)
c.991G= (p.Val331=)
c.1009G= (p.Val337=)
2g.127428575G>TCA348405449PROCc.1015G>T (p.Val339Leu)
c.339G>T
c.1117G>T (p.Val373Leu)
c.1198G>T (p.Val400Leu)
c.1180G>T (p.Val394Leu)
c.1078G>T (p.Val360Leu)
n.1332-311C>A
c.1258G>T (p.Val420Leu)
c.1360G>T (p.Val454Leu)
c.1300G>T (p.Val434Leu)
n.3607-311C>A
n.4043-311C>A
c.1183G>T (p.Val395Leu)
c.1201G>T (p.Val401Leu)
c.958G>T (p.Val320Leu)
c.991G>T (p.Val331Leu)
c.1009G>T (p.Val337Leu)
2g.127428576T>ACA348405460PROCc.1016T>A (p.Val339Glu)
c.340T>A
c.1118T>A (p.Val373Glu)
c.1199T>A (p.Val400Glu)
c.1181T>A (p.Val394Glu)
c.1079T>A (p.Val360Glu)
n.1332-312A>T
c.1259T>A (p.Val420Glu)
c.1361T>A (p.Val454Glu)
c.1301T>A (p.Val434Glu)
n.3607-312A>T
n.4043-312A>T
c.1184T>A (p.Val395Glu)
c.1202T>A (p.Val401Glu)
c.959T>A (p.Val320Glu)
c.992T>A (p.Val331Glu)
c.1010T>A (p.Val337Glu)
2g.127428576T>CCA348405462PROCc.1016T>C (p.Val339Ala)
c.340T>C
c.1118T>C (p.Val373Ala)
c.1199T>C (p.Val400Ala)
c.1181T>C (p.Val394Ala)
c.1079T>C (p.Val360Ala)
n.1332-312A>G
c.1259T>C (p.Val420Ala)
c.1361T>C (p.Val454Ala)
c.1301T>C (p.Val434Ala)
n.3607-312A>G
n.4043-312A>G
c.1184T>C (p.Val395Ala)
c.1202T>C (p.Val401Ala)
c.959T>C (p.Val320Ala)
c.992T>C (p.Val331Ala)
c.1010T>C (p.Val337Ala)
2g.127428576T>GCA348405458PROCc.1016T>G (p.Val339Gly)
c.340T>G
c.1118T>G (p.Val373Gly)
c.1199T>G (p.Val400Gly)
c.1181T>G (p.Val394Gly)
c.1079T>G (p.Val360Gly)
n.1332-312A>C
c.1259T>G (p.Val420Gly)
c.1361T>G (p.Val454Gly)
c.1301T>G (p.Val434Gly)
n.3607-312A>C
n.4043-312A>C
c.1184T>G (p.Val395Gly)
c.1202T>G (p.Val401Gly)
c.959T>G (p.Val320Gly)
c.992T>G (p.Val331Gly)
c.1010T>G (p.Val337Gly)
2g.127428576dupCA2660997780PROCc.1016dup (p.Thr340AspfsTer?)
c.340dup
c.1118dup (p.Thr374AspfsTer?)
c.1199dup (p.Thr401AspfsTer?)
c.1181dup (p.Thr395AspfsTer?)
c.1079dup (p.Thr361AspfsTer?)
n.1332-312dup
c.1259dup (p.Thr421AspfsTer?)
c.1361dup (p.Thr455AspfsTer?)
c.1301dup (p.Thr435AspfsTer?)
n.3607-312dup
n.4043-312dup
c.1184dup (p.Thr396AspfsTer?)
c.1202dup (p.Thr402AspfsTer?)
c.959dup (p.Thr321AspfsTer?)
c.992dup (p.Thr332AspfsTer?)
c.1010dup (p.Thr338AspfsTer?)
 gnomAD v4
2g.127428577G>ACA55350934PROCc.1017G>A (p.Val339=)
c.341G>A
c.1119G>A (p.Val373=)
c.1200G>A (p.Val400=)
c.1182G>A (p.Val394=)
c.1080G>A (p.Val360=)
n.1332-313C>T
c.1260G>A (p.Val420=)
c.1362G>A (p.Val454=)
c.1302G>A (p.Val434=)
n.3607-313C>T
n.4043-313C>T
c.1185G>A (p.Val395=)
c.1203G>A (p.Val401=)
c.960G>A (p.Val320=)
c.993G>A (p.Val331=)
c.1011G>A (p.Val337=)
 dbSNP gnomAD v3 gnomAD v4
2g.127428577G>CCA428871936PROCc.1017G>C (p.Val339=)
c.341G>C
c.1119G>C (p.Val373=)
c.1200G>C (p.Val400=)
c.1182G>C (p.Val394=)
c.1080G>C (p.Val360=)
n.1332-313C>G
c.1260G>C (p.Val420=)
c.1362G>C (p.Val454=)
c.1302G>C (p.Val434=)
n.3607-313C>G
n.4043-313C>G
c.1185G>C (p.Val395=)
c.1203G>C (p.Val401=)
c.960G>C (p.Val320=)
c.993G>C (p.Val331=)
c.1011G>C (p.Val337=)
2g.127428577G=CA1286884533PROCc.1017G= (p.Val339=)
c.341G=
c.1119G= (p.Val373=)
c.1200G= (p.Val400=)
c.1182G= (p.Val394=)
c.1080G= (p.Val360=)
n.1332-313C=
c.1260G= (p.Val420=)
c.1362G= (p.Val454=)
c.1302G= (p.Val434=)
n.3607-313C=
n.4043-313C=
c.1185G= (p.Val395=)
c.1203G= (p.Val401=)
c.960G= (p.Val320=)
c.993G= (p.Val331=)
c.1011G= (p.Val337=)
2g.127428577G>TCA428871938PROCc.1017G>T (p.Val339=)
c.341G>T
c.1119G>T (p.Val373=)
c.1200G>T (p.Val400=)
c.1182G>T (p.Val394=)
c.1080G>T (p.Val360=)
n.1332-313C>A
c.1260G>T (p.Val420=)
c.1362G>T (p.Val454=)
c.1302G>T (p.Val434=)
n.3607-313C>A
n.4043-313C>A
c.1185G>T (p.Val395=)
c.1203G>T (p.Val401=)
c.960G>T (p.Val320=)
c.993G>T (p.Val331=)
c.1011G>T (p.Val337=)
2g.127428578A>CCA348405465PROCc.1018A>C (p.Thr340Pro)
c.342A>C
c.1120A>C (p.Thr374Pro)
c.1201A>C (p.Thr401Pro)
c.1183A>C (p.Thr395Pro)
c.1081A>C (p.Thr361Pro)
n.1332-314T>G
c.1261A>C (p.Thr421Pro)
c.1363A>C (p.Thr455Pro)
c.1303A>C (p.Thr435Pro)
n.3607-314T>G
n.4043-314T>G
c.1186A>C (p.Thr396Pro)
c.1204A>C (p.Thr402Pro)
c.961A>C (p.Thr321Pro)
c.994A>C (p.Thr332Pro)
c.1012A>C (p.Thr338Pro)
2g.127428578A>GCA348405471PROCc.1018A>G (p.Thr340Ala)
c.342A>G
c.1120A>G (p.Thr374Ala)
c.1201A>G (p.Thr401Ala)
c.1183A>G (p.Thr395Ala)
c.1081A>G (p.Thr361Ala)
n.1332-314T>C
c.1261A>G (p.Thr421Ala)
c.1363A>G (p.Thr455Ala)
c.1303A>G (p.Thr435Ala)
n.3607-314T>C
n.4043-314T>C
c.1186A>G (p.Thr396Ala)
c.1204A>G (p.Thr402Ala)
c.961A>G (p.Thr321Ala)
c.994A>G (p.Thr332Ala)
c.1012A>G (p.Thr338Ala)
2g.127428578A>TCA348405472PROCc.1018A>T (p.Thr340Ser)
c.342A>T
c.1120A>T (p.Thr374Ser)
c.1201A>T (p.Thr401Ser)
c.1183A>T (p.Thr395Ser)
c.1081A>T (p.Thr361Ser)
n.1332-314T>A
c.1261A>T (p.Thr421Ser)
c.1363A>T (p.Thr455Ser)
c.1303A>T (p.Thr435Ser)
n.3607-314T>A
n.4043-314T>A
c.1186A>T (p.Thr396Ser)
c.1204A>T (p.Thr402Ser)
c.961A>T (p.Thr321Ser)
c.994A>T (p.Thr332Ser)
c.1012A>T (p.Thr338Ser)
2g.127428579C>ACA348405477PROCc.1019C>A (p.Thr340Lys)
c.343C>A
c.1121C>A (p.Thr374Lys)
c.1202C>A (p.Thr401Lys)
c.1184C>A (p.Thr395Lys)
c.1082C>A (p.Thr361Lys)
n.1332-315G>T
c.1262C>A (p.Thr421Lys)
c.1364C>A (p.Thr455Lys)
c.1304C>A (p.Thr435Lys)
n.3607-315G>T
n.4043-315G>T
c.1187C>A (p.Thr396Lys)
c.1205C>A (p.Thr402Lys)
c.962C>A (p.Thr321Lys)
c.995C>A (p.Thr332Lys)
c.1013C>A (p.Thr338Lys)
 ClinVar dbSNP
2g.127428579C=CA1286884534PROCc.1019C= (p.Thr340=)
c.343C=
c.1121C= (p.Thr374=)
c.1202C= (p.Thr401=)
c.1184C= (p.Thr395=)
c.1082C= (p.Thr361=)
n.1332-315G=
c.1262C= (p.Thr421=)
c.1364C= (p.Thr455=)
c.1304C= (p.Thr435=)
n.3607-315G=
n.4043-315G=
c.1187C= (p.Thr396=)
c.1205C= (p.Thr402=)
c.962C= (p.Thr321=)
c.995C= (p.Thr332=)
c.1013C= (p.Thr338=)
2g.127428579C>GCA348405480PROCc.1019C>G (p.Thr340Arg)
c.343C>G
c.1121C>G (p.Thr374Arg)
c.1202C>G (p.Thr401Arg)
c.1184C>G (p.Thr395Arg)
c.1082C>G (p.Thr361Arg)
n.1332-315G>C
c.1262C>G (p.Thr421Arg)
c.1364C>G (p.Thr455Arg)
c.1304C>G (p.Thr435Arg)
n.3607-315G>C
n.4043-315G>C
c.1187C>G (p.Thr396Arg)
c.1205C>G (p.Thr402Arg)
c.962C>G (p.Thr321Arg)
c.995C>G (p.Thr332Arg)
c.1013C>G (p.Thr338Arg)
2g.127428579C>TCA1859504PROCc.1019C>T (p.Thr340Met)
c.343C>T
c.1121C>T (p.Thr374Met)
c.1202C>T (p.Thr401Met)
c.1184C>T (p.Thr395Met)
c.1082C>T (p.Thr361Met)
n.1332-315G>A
c.1262C>T (p.Thr421Met)
c.1364C>T (p.Thr455Met)
c.1304C>T (p.Thr435Met)
n.3607-315G>A
n.4043-315G>A
c.1187C>T (p.Thr396Met)
c.1205C>T (p.Thr402Met)
c.962C>T (p.Thr321Met)
c.995C>T (p.Thr332Met)
c.1013C>T (p.Thr338Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428580G>ACA1859505PROCc.1020G>A (p.Thr340=)
c.344G>A
c.1122G>A (p.Thr374=)
c.1203G>A (p.Thr401=)
c.1185G>A (p.Thr395=)
c.1083G>A (p.Thr361=)
n.1332-316C>T
c.1263G>A (p.Thr421=)
c.1365G>A (p.Thr455=)
c.1305G>A (p.Thr435=)
n.3607-316C>T
n.4043-316C>T
c.1188G>A (p.Thr396=)
c.1206G>A (p.Thr402=)
c.963G>A (p.Thr321=)
c.996G>A (p.Thr332=)
c.1014G>A (p.Thr338=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428580G>CCA428871950PROCc.1020G>C (p.Thr340=)
c.344G>C
c.1122G>C (p.Thr374=)
c.1203G>C (p.Thr401=)
c.1185G>C (p.Thr395=)
c.1083G>C (p.Thr361=)
n.1332-316C>G
c.1263G>C (p.Thr421=)
c.1365G>C (p.Thr455=)
c.1305G>C (p.Thr435=)
n.3607-316C>G
n.4043-316C>G
c.1188G>C (p.Thr396=)
c.1206G>C (p.Thr402=)
c.963G>C (p.Thr321=)
c.996G>C (p.Thr332=)
c.1014G>C (p.Thr338=)
2g.127428580G=CA1286884535PROCc.1020G= (p.Thr340=)
c.344G=
c.1122G= (p.Thr374=)
c.1203G= (p.Thr401=)
c.1185G= (p.Thr395=)
c.1083G= (p.Thr361=)
n.1332-316C=
c.1263G= (p.Thr421=)
c.1365G= (p.Thr455=)
c.1305G= (p.Thr435=)
n.3607-316C=
n.4043-316C=
c.1188G= (p.Thr396=)
c.1206G= (p.Thr402=)
c.963G= (p.Thr321=)
c.996G= (p.Thr332=)
c.1014G= (p.Thr338=)
2g.127428580G>TCA428871952PROCc.1020G>T (p.Thr340=)
c.344G>T
c.1122G>T (p.Thr374=)
c.1203G>T (p.Thr401=)
c.1185G>T (p.Thr395=)
c.1083G>T (p.Thr361=)
n.1332-316C>A
c.1263G>T (p.Thr421=)
c.1365G>T (p.Thr455=)
c.1305G>T (p.Thr435=)
n.3607-316C>A
n.4043-316C>A
c.1188G>T (p.Thr396=)
c.1206G>T (p.Thr402=)
c.963G>T (p.Thr321=)
c.996G>T (p.Thr332=)
c.1014G>T (p.Thr338=)
2g.127428581G>ACA348405490PROCc.1021G>A (p.Gly341Ser)
c.345G>A
c.1123G>A (p.Gly375Ser)
c.1204G>A (p.Gly402Ser)
c.1186G>A (p.Gly396Ser)
c.1084G>A (p.Gly362Ser)
n.1332-317C>T
c.1264G>A (p.Gly422Ser)
c.1366G>A (p.Gly456Ser)
c.1306G>A (p.Gly436Ser)
n.3607-317C>T
n.4043-317C>T
c.1189G>A (p.Gly397Ser)
c.1207G>A (p.Gly403Ser)
c.964G>A (p.Gly322Ser)
c.997G>A (p.Gly333Ser)
c.1015G>A (p.Gly339Ser)
 COSMIC COSMIC
2g.127428581G>CCA348405493PROCc.1021G>C (p.Gly341Arg)
c.345G>C
c.1123G>C (p.Gly375Arg)
c.1204G>C (p.Gly402Arg)
c.1186G>C (p.Gly396Arg)
c.1084G>C (p.Gly362Arg)
n.1332-317C>G
c.1264G>C (p.Gly422Arg)
c.1366G>C (p.Gly456Arg)
c.1306G>C (p.Gly436Arg)
n.3607-317C>G
n.4043-317C>G
c.1189G>C (p.Gly397Arg)
c.1207G>C (p.Gly403Arg)
c.964G>C (p.Gly322Arg)
c.997G>C (p.Gly333Arg)
c.1015G>C (p.Gly339Arg)
2g.127428581G>TCA348405495PROCc.1021G>T (p.Gly341Cys)
c.345G>T
c.1123G>T (p.Gly375Cys)
c.1204G>T (p.Gly402Cys)
c.1186G>T (p.Gly396Cys)
c.1084G>T (p.Gly362Cys)
n.1332-317C>A
c.1264G>T (p.Gly422Cys)
c.1366G>T (p.Gly456Cys)
c.1306G>T (p.Gly436Cys)
n.3607-317C>A
n.4043-317C>A
c.1189G>T (p.Gly397Cys)
c.1207G>T (p.Gly403Cys)
c.964G>T (p.Gly322Cys)
c.997G>T (p.Gly333Cys)
c.1015G>T (p.Gly339Cys)
2g.127428582G>ACA348405498PROCc.1022G>A (p.Gly341Asp)
c.346G>A
c.1124G>A (p.Gly375Asp)
c.1205G>A (p.Gly402Asp)
c.1187G>A (p.Gly396Asp)
c.1085G>A (p.Gly362Asp)
n.1332-318C>T
c.1265G>A (p.Gly422Asp)
c.1367G>A (p.Gly456Asp)
c.1307G>A (p.Gly436Asp)
n.3607-318C>T
n.4043-318C>T
c.1190G>A (p.Gly397Asp)
c.1208G>A (p.Gly403Asp)
c.965G>A (p.Gly322Asp)
c.998G>A (p.Gly333Asp)
c.1016G>A (p.Gly339Asp)
2g.127428582G>CCA348405501PROCc.1022G>C (p.Gly341Ala)
c.346G>C
c.1124G>C (p.Gly375Ala)
c.1205G>C (p.Gly402Ala)
c.1187G>C (p.Gly396Ala)
c.1085G>C (p.Gly362Ala)
n.1332-318C>G
c.1265G>C (p.Gly422Ala)
c.1367G>C (p.Gly456Ala)
c.1307G>C (p.Gly436Ala)
n.3607-318C>G
n.4043-318C>G
c.1190G>C (p.Gly397Ala)
c.1208G>C (p.Gly403Ala)
c.965G>C (p.Gly322Ala)
c.998G>C (p.Gly333Ala)
c.1016G>C (p.Gly339Ala)
2g.127428582G>TCA348405502PROCc.1022G>T (p.Gly341Val)
c.346G>T
c.1124G>T (p.Gly375Val)
c.1205G>T (p.Gly402Val)
c.1187G>T (p.Gly396Val)
c.1085G>T (p.Gly362Val)
n.1332-318C>A
c.1265G>T (p.Gly422Val)
c.1367G>T (p.Gly456Val)
c.1307G>T (p.Gly436Val)
n.3607-318C>A
n.4043-318C>A
c.1190G>T (p.Gly397Val)
c.1208G>T (p.Gly403Val)
c.965G>T (p.Gly322Val)
c.998G>T (p.Gly333Val)
c.1016G>T (p.Gly339Val)
2g.127428583C>ACA428871963PROCc.1023C>A (p.Gly341=)
c.347C>A
c.1125C>A (p.Gly375=)
c.1206C>A (p.Gly402=)
c.1188C>A (p.Gly396=)
c.1086C>A (p.Gly362=)
n.1332-319G>T
c.1266C>A (p.Gly422=)
c.1368C>A (p.Gly456=)
c.1308C>A (p.Gly436=)
n.3607-319G>T
n.4043-319G>T
c.1191C>A (p.Gly397=)
c.1209C>A (p.Gly403=)
c.966C>A (p.Gly322=)
c.999C>A (p.Gly333=)
c.1017C>A (p.Gly339=)
2g.127428583C=CA1286884536PROCc.1023C= (p.Gly341=)
c.347C=
c.1125C= (p.Gly375=)
c.1206C= (p.Gly402=)
c.1188C= (p.Gly396=)
c.1086C= (p.Gly362=)
n.1332-319G=
c.1266C= (p.Gly422=)
c.1368C= (p.Gly456=)
c.1308C= (p.Gly436=)
n.3607-319G=
n.4043-319G=
c.1191C= (p.Gly397=)
c.1209C= (p.Gly403=)
c.966C= (p.Gly322=)
c.999C= (p.Gly333=)
c.1017C= (p.Gly339=)
2g.127428583C>GCA428871965PROCc.1023C>G (p.Gly341=)
c.347C>G
c.1125C>G (p.Gly375=)
c.1206C>G (p.Gly402=)
c.1188C>G (p.Gly396=)
c.1086C>G (p.Gly362=)
n.1332-319G>C
c.1266C>G (p.Gly422=)
c.1368C>G (p.Gly456=)
c.1308C>G (p.Gly436=)
n.3607-319G>C
n.4043-319G>C
c.1191C>G (p.Gly397=)
c.1209C>G (p.Gly403=)
c.966C>G (p.Gly322=)
c.999C>G (p.Gly333=)
c.1017C>G (p.Gly339=)
2g.127428583C>TCA1859506PROCc.1023C>T (p.Gly341=)
c.347C>T
c.1125C>T (p.Gly375=)
c.1206C>T (p.Gly402=)
c.1188C>T (p.Gly396=)
c.1086C>T (p.Gly362=)
n.1332-319G>A
c.1266C>T (p.Gly422=)
c.1368C>T (p.Gly456=)
c.1308C>T (p.Gly436=)
n.3607-319G>A
n.4043-319G>A
c.1191C>T (p.Gly397=)
c.1209C>T (p.Gly403=)
c.966C>T (p.Gly322=)
c.999C>T (p.Gly333=)
c.1017C>T (p.Gly339=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428584T>ACA348405505PROCc.1024T>A (p.Trp342Arg)
c.348T>A
c.1126T>A (p.Trp376Arg)
c.1207T>A (p.Trp403Arg)
c.1189T>A (p.Trp397Arg)
c.1087T>A (p.Trp363Arg)
n.1332-320A>T
c.1267T>A (p.Trp423Arg)
c.1369T>A (p.Trp457Arg)
c.1309T>A (p.Trp437Arg)
n.3607-320A>T
n.4043-320A>T
c.1192T>A (p.Trp398Arg)
c.1210T>A (p.Trp404Arg)
c.967T>A (p.Trp323Arg)
c.1000T>A (p.Trp334Arg)
c.1018T>A (p.Trp340Arg)
2g.127428584T>CCA348405507PROCc.1024T>C (p.Trp342Arg)
c.348T>C
c.1126T>C (p.Trp376Arg)
c.1207T>C (p.Trp403Arg)
c.1189T>C (p.Trp397Arg)
c.1087T>C (p.Trp363Arg)
n.1332-320A>G
c.1267T>C (p.Trp423Arg)
c.1369T>C (p.Trp457Arg)
c.1309T>C (p.Trp437Arg)
n.3607-320A>G
n.4043-320A>G
c.1192T>C (p.Trp398Arg)
c.1210T>C (p.Trp404Arg)
c.967T>C (p.Trp323Arg)
c.1000T>C (p.Trp334Arg)
c.1018T>C (p.Trp340Arg)
2g.127428584T>GCA348405514PROCc.1024T>G (p.Trp342Gly)
c.348T>G
c.1126T>G (p.Trp376Gly)
c.1207T>G (p.Trp403Gly)
c.1189T>G (p.Trp397Gly)
c.1087T>G (p.Trp363Gly)
n.1332-320A>C
c.1267T>G (p.Trp423Gly)
c.1369T>G (p.Trp457Gly)
c.1309T>G (p.Trp437Gly)
n.3607-320A>C
n.4043-320A>C
c.1192T>G (p.Trp398Gly)
c.1210T>G (p.Trp404Gly)
c.967T>G (p.Trp323Gly)
c.1000T>G (p.Trp334Gly)
c.1018T>G (p.Trp340Gly)
2g.127428585G>ACA348405518PROCc.1025G>A (p.Trp342Ter)
c.349G>A
c.1127G>A (p.Trp376Ter)
c.1208G>A (p.Trp403Ter)
c.1190G>A (p.Trp397Ter)
c.1088G>A (p.Trp363Ter)
n.1332-321C>T
c.1268G>A (p.Trp423Ter)
c.1370G>A (p.Trp457Ter)
c.1310G>A (p.Trp437Ter)
n.3607-321C>T
n.4043-321C>T
c.1193G>A (p.Trp398Ter)
c.1211G>A (p.Trp404Ter)
c.968G>A (p.Trp323Ter)
c.1001G>A (p.Trp334Ter)
c.1019G>A (p.Trp340Ter)
2g.127428585G>CCA348405523PROCc.1025G>C (p.Trp342Ser)
c.349G>C
c.1127G>C (p.Trp376Ser)
c.1208G>C (p.Trp403Ser)
c.1190G>C (p.Trp397Ser)
c.1088G>C (p.Trp363Ser)
n.1332-321C>G
c.1268G>C (p.Trp423Ser)
c.1370G>C (p.Trp457Ser)
c.1310G>C (p.Trp437Ser)
n.3607-321C>G
n.4043-321C>G
c.1193G>C (p.Trp398Ser)
c.1211G>C (p.Trp404Ser)
c.968G>C (p.Trp323Ser)
c.1001G>C (p.Trp334Ser)
c.1019G>C (p.Trp340Ser)
2g.127428585G>TCA348405524PROCc.1025G>T (p.Trp342Leu)
c.349G>T
c.1127G>T (p.Trp376Leu)
c.1208G>T (p.Trp403Leu)
c.1190G>T (p.Trp397Leu)
c.1088G>T (p.Trp363Leu)
n.1332-321C>A
c.1268G>T (p.Trp423Leu)
c.1370G>T (p.Trp457Leu)
c.1310G>T (p.Trp437Leu)
n.3607-321C>A
n.4043-321C>A
c.1193G>T (p.Trp398Leu)
c.1211G>T (p.Trp404Leu)
c.968G>T (p.Trp323Leu)
c.1001G>T (p.Trp334Leu)
c.1019G>T (p.Trp340Leu)
2g.127428588delCA2586969914PROCc.1028del (p.Gly343AlafsTer?)
c.352del
c.1130del (p.Gly377AlafsTer?)
c.1211del (p.Gly404AlafsTer?)
c.1193del (p.Gly398AlafsTer?)
c.1091del (p.Gly364AlafsTer?)
n.1332-321del
c.1271del (p.Gly424AlafsTer?)
c.1373del (p.Gly458AlafsTer?)
c.1313del (p.Gly438AlafsTer?)
n.3607-321del
n.4043-321del
c.1196del (p.Gly399AlafsTer?)
c.1214del (p.Gly405AlafsTer?)
c.971del (p.Gly324AlafsTer?)
c.1004del (p.Gly335AlafsTer?)
c.1022del (p.Gly341AlafsTer?)
 dbSNP
2g.127428586G>ACA348405527PROCc.1026G>A (p.Trp342Ter)
c.350G>A
c.1128G>A (p.Trp376Ter)
c.1209G>A (p.Trp403Ter)
c.1191G>A (p.Trp397Ter)
c.1089G>A (p.Trp363Ter)
n.1332-322C>T
c.1269G>A (p.Trp423Ter)
c.1371G>A (p.Trp457Ter)
c.1311G>A (p.Trp437Ter)
n.3607-322C>T
n.4043-322C>T
c.1194G>A (p.Trp398Ter)
c.1212G>A (p.Trp404Ter)
c.969G>A (p.Trp323Ter)
c.1002G>A (p.Trp334Ter)
c.1020G>A (p.Trp340Ter)
2g.127428586G>CCA1859507PROCc.1026G>C (p.Trp342Cys)
c.350G>C
c.1128G>C (p.Trp376Cys)
c.1209G>C (p.Trp403Cys)
c.1191G>C (p.Trp397Cys)
c.1089G>C (p.Trp363Cys)
n.1332-322C>G
c.1269G>C (p.Trp423Cys)
c.1371G>C (p.Trp457Cys)
c.1311G>C (p.Trp437Cys)
n.3607-322C>G
n.4043-322C>G
c.1194G>C (p.Trp398Cys)
c.1212G>C (p.Trp404Cys)
c.969G>C (p.Trp323Cys)
c.1002G>C (p.Trp334Cys)
c.1020G>C (p.Trp340Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428586G=CA1286884537PROCc.1026G= (p.Trp342=)
c.350G=
c.1128G= (p.Trp376=)
c.1209G= (p.Trp403=)
c.1191G= (p.Trp397=)
c.1089G= (p.Trp363=)
n.1332-322C=
c.1269G= (p.Trp423=)
c.1371G= (p.Trp457=)
c.1311G= (p.Trp437=)
n.3607-322C=
n.4043-322C=
c.1194G= (p.Trp398=)
c.1212G= (p.Trp404=)
c.969G= (p.Trp323=)
c.1002G= (p.Trp334=)
c.1020G= (p.Trp340=)
2g.127428586G>TCA348405531PROCc.1026G>T (p.Trp342Cys)
c.350G>T
c.1128G>T (p.Trp376Cys)
c.1209G>T (p.Trp403Cys)
c.1191G>T (p.Trp397Cys)
c.1089G>T (p.Trp363Cys)
n.1332-322C>A
c.1269G>T (p.Trp423Cys)
c.1371G>T (p.Trp457Cys)
c.1311G>T (p.Trp437Cys)
n.3607-322C>A
n.4043-322C>A
c.1194G>T (p.Trp398Cys)
c.1212G>T (p.Trp404Cys)
c.969G>T (p.Trp323Cys)
c.1002G>T (p.Trp334Cys)
c.1020G>T (p.Trp340Cys)
2g.127428587G>ACA114399PROCc.1027G>A (p.Gly343Ser)
c.351G>A
c.1129G>A (p.Gly377Ser)
c.1210G>A (p.Gly404Ser)
c.1192G>A (p.Gly398Ser)
c.1090G>A (p.Gly364Ser)
n.1332-323C>T
c.1270G>A (p.Gly424Ser)
c.1372G>A (p.Gly458Ser)
c.1312G>A (p.Gly438Ser)
n.3607-323C>T
n.4043-323C>T
c.1195G>A (p.Gly399Ser)
c.1213G>A (p.Gly405Ser)
c.970G>A (p.Gly324Ser)
c.1003G>A (p.Gly335Ser)
c.1021G>A (p.Gly341Ser)
 ClinVar dbSNP
2g.127428587G>CCA348405536PROCc.1027G>C (p.Gly343Arg)
c.351G>C
c.1129G>C (p.Gly377Arg)
c.1210G>C (p.Gly404Arg)
c.1192G>C (p.Gly398Arg)
c.1090G>C (p.Gly364Arg)
n.1332-323C>G
c.1270G>C (p.Gly424Arg)
c.1372G>C (p.Gly458Arg)
c.1312G>C (p.Gly438Arg)
n.3607-323C>G
n.4043-323C>G
c.1195G>C (p.Gly399Arg)
c.1213G>C (p.Gly405Arg)
c.970G>C (p.Gly324Arg)
c.1003G>C (p.Gly335Arg)
c.1021G>C (p.Gly341Arg)
2g.127428587G=CA1286884538PROCc.1027G= (p.Gly343=)
c.351G=
c.1129G= (p.Gly377=)
c.1210G= (p.Gly404=)
c.1192G= (p.Gly398=)
c.1090G= (p.Gly364=)
n.1332-323C=
c.1270G= (p.Gly424=)
c.1372G= (p.Gly458=)
c.1312G= (p.Gly438=)
n.3607-323C=
n.4043-323C=
c.1195G= (p.Gly399=)
c.1213G= (p.Gly405=)
c.970G= (p.Gly324=)
c.1003G= (p.Gly335=)
c.1021G= (p.Gly341=)
2g.127428587G>TCA348405538PROCc.1027G>T (p.Gly343Cys)
c.351G>T
c.1129G>T (p.Gly377Cys)
c.1210G>T (p.Gly404Cys)
c.1192G>T (p.Gly398Cys)
c.1090G>T (p.Gly364Cys)
n.1332-323C>A
c.1270G>T (p.Gly424Cys)
c.1372G>T (p.Gly458Cys)
c.1312G>T (p.Gly438Cys)
n.3607-323C>A
n.4043-323C>A
c.1195G>T (p.Gly399Cys)
c.1213G>T (p.Gly405Cys)
c.970G>T (p.Gly324Cys)
c.1003G>T (p.Gly335Cys)
c.1021G>T (p.Gly341Cys)
2g.127428587_127428596delinsGGCTACCACACA1286884539PROCc.1027_1036delinsGGCTACCACA (p.Gly343=)
c.351_360delinsGGCTACCACA
c.1129_1138delinsGGCTACCACA (p.Gly377=)
c.1210_1219delinsGGCTACCACA (p.Gly404=)
c.1192_1201delinsGGCTACCACA (p.Gly398=)
c.1090_1099delinsGGCTACCACA (p.Gly364=)
n.1332-332_1332-323delinsTGTGGTAGCC
c.1270_1279delinsGGCTACCACA (p.Gly424=)
c.1372_1381delinsGGCTACCACA (p.Gly458=)
c.1312_1321delinsGGCTACCACA (p.Gly438=)
n.3607-332_3607-323delinsTGTGGTAGCC
n.4043-332_4043-323delinsTGTGGTAGCC
c.1195_1204delinsGGCTACCACA (p.Gly399=)
c.1213_1222delinsGGCTACCACA (p.Gly405=)
c.970_979delinsGGCTACCACA (p.Gly324=)
c.1003_1012delinsGGCTACCACA (p.Gly335=)
c.1021_1030delinsGGCTACCACA (p.Gly341=)
2g.127428588G>ACA348405547PROCc.1028G>A (p.Gly343Asp)
c.352G>A
c.1130G>A (p.Gly377Asp)
c.1211G>A (p.Gly404Asp)
c.1193G>A (p.Gly398Asp)
c.1091G>A (p.Gly364Asp)
n.1332-324C>T
c.1271G>A (p.Gly424Asp)
c.1373G>A (p.Gly458Asp)
c.1313G>A (p.Gly438Asp)
n.3607-324C>T
n.4043-324C>T
c.1196G>A (p.Gly399Asp)
c.1214G>A (p.Gly405Asp)
c.971G>A (p.Gly324Asp)
c.1004G>A (p.Gly335Asp)
c.1022G>A (p.Gly341Asp)
 gnomAD v4
2g.127428588G>CCA348405546PROCc.1028G>C (p.Gly343Ala)
c.352G>C
c.1130G>C (p.Gly377Ala)
c.1211G>C (p.Gly404Ala)
c.1193G>C (p.Gly398Ala)
c.1091G>C (p.Gly364Ala)
n.1332-324C>G
c.1271G>C (p.Gly424Ala)
c.1373G>C (p.Gly458Ala)
c.1313G>C (p.Gly438Ala)
n.3607-324C>G
n.4043-324C>G
c.1196G>C (p.Gly399Ala)
c.1214G>C (p.Gly405Ala)
c.971G>C (p.Gly324Ala)
c.1004G>C (p.Gly335Ala)
c.1022G>C (p.Gly341Ala)
2g.127428588G>TCA348405543PROCc.1028G>T (p.Gly343Val)
c.352G>T
c.1130G>T (p.Gly377Val)
c.1211G>T (p.Gly404Val)
c.1193G>T (p.Gly398Val)
c.1091G>T (p.Gly364Val)
n.1332-324C>A
c.1271G>T (p.Gly424Val)
c.1373G>T (p.Gly458Val)
c.1313G>T (p.Gly438Val)
n.3607-324C>A
n.4043-324C>A
c.1196G>T (p.Gly399Val)
c.1214G>T (p.Gly405Val)
c.971G>T (p.Gly324Val)
c.1004G>T (p.Gly335Val)
c.1022G>T (p.Gly341Val)
2g.127428590_127428598delCA756630933PROCc.1030_1038del (p.Tyr344_Ser346del)
c.354_362del
c.1132_1140del (p.Tyr378_Ser380del)
c.1213_1221del (p.Tyr405_Ser407del)
c.1195_1203del (p.Tyr399_Ser401del)
c.1093_1101del (p.Tyr365_Ser367del)
n.1332-332_1332-324del
c.1273_1281del (p.Tyr425_Ser427del)
c.1375_1383del (p.Tyr459_Ser461del)
c.1315_1323del (p.Tyr439_Ser441del)
n.3607-332_3607-324del
n.4043-332_4043-324del
c.1198_1206del (p.Tyr400_Ser402del)
c.1216_1224del (p.Tyr406_Ser408del)
c.973_981del (p.Tyr325_Ser327del)
c.1006_1014del (p.Tyr336_Ser338del)
c.1024_1032del (p.Tyr342_Ser344del)
 dbSNP gnomAD v3 gnomAD v4
2g.127428589C>ACA428871992PROCc.1029C>A (p.Gly343=)
c.353C>A
c.1131C>A (p.Gly377=)
c.1212C>A (p.Gly404=)
c.1194C>A (p.Gly398=)
c.1092C>A (p.Gly364=)
n.1332-325G>T
c.1272C>A (p.Gly424=)
c.1374C>A (p.Gly458=)
c.1314C>A (p.Gly438=)
n.3607-325G>T
n.4043-325G>T
c.1197C>A (p.Gly399=)
c.1215C>A (p.Gly405=)
c.972C>A (p.Gly324=)
c.1005C>A (p.Gly335=)
c.1023C>A (p.Gly341=)
2g.127428589C>GCA428871994PROCc.1029C>G (p.Gly343=)
c.353C>G
c.1131C>G (p.Gly377=)
c.1212C>G (p.Gly404=)
c.1194C>G (p.Gly398=)
c.1092C>G (p.Gly364=)
n.1332-325G>C
c.1272C>G (p.Gly424=)
c.1374C>G (p.Gly458=)
c.1314C>G (p.Gly438=)
n.3607-325G>C
n.4043-325G>C
c.1197C>G (p.Gly399=)
c.1215C>G (p.Gly405=)
c.972C>G (p.Gly324=)
c.1005C>G (p.Gly335=)
c.1023C>G (p.Gly341=)
2g.127428589C>TCA428871996PROCc.1029C>T (p.Gly343=)
c.353C>T
c.1131C>T (p.Gly377=)
c.1212C>T (p.Gly404=)
c.1194C>T (p.Gly398=)
c.1092C>T (p.Gly364=)
n.1332-325G>A
c.1272C>T (p.Gly424=)
c.1374C>T (p.Gly458=)
c.1314C>T (p.Gly438=)
n.3607-325G>A
n.4043-325G>A
c.1197C>T (p.Gly399=)
c.1215C>T (p.Gly405=)
c.972C>T (p.Gly324=)
c.1005C>T (p.Gly335=)
c.1023C>T (p.Gly341=)
2g.127428590T>ACA1859508PROCc.1030T>A (p.Tyr344Asn)
c.354T>A
c.1132T>A (p.Tyr378Asn)
c.1213T>A (p.Tyr405Asn)
c.1195T>A (p.Tyr399Asn)
c.1093T>A (p.Tyr365Asn)
n.1332-326A>T
c.1273T>A (p.Tyr425Asn)
c.1375T>A (p.Tyr459Asn)
c.1315T>A (p.Tyr439Asn)
n.3607-326A>T
n.4043-326A>T
c.1198T>A (p.Tyr400Asn)
c.1216T>A (p.Tyr406Asn)
c.973T>A (p.Tyr325Asn)
c.1006T>A (p.Tyr336Asn)
c.1024T>A (p.Tyr342Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428590T>CCA348405548PROCc.1030T>C (p.Tyr344His)
c.354T>C
c.1132T>C (p.Tyr378His)
c.1213T>C (p.Tyr405His)
c.1195T>C (p.Tyr399His)
c.1093T>C (p.Tyr365His)
n.1332-326A>G
c.1273T>C (p.Tyr425His)
c.1375T>C (p.Tyr459His)
c.1315T>C (p.Tyr439His)
n.3607-326A>G
n.4043-326A>G
c.1198T>C (p.Tyr400His)
c.1216T>C (p.Tyr406His)
c.973T>C (p.Tyr325His)
c.1006T>C (p.Tyr336His)
c.1024T>C (p.Tyr342His)
 gnomAD v4
2g.127428590T>GCA348405549PROCc.1030T>G (p.Tyr344Asp)
c.354T>G
c.1132T>G (p.Tyr378Asp)
c.1213T>G (p.Tyr405Asp)
c.1195T>G (p.Tyr399Asp)
c.1093T>G (p.Tyr365Asp)
n.1332-326A>C
c.1273T>G (p.Tyr425Asp)
c.1375T>G (p.Tyr459Asp)
c.1315T>G (p.Tyr439Asp)
n.3607-326A>C
n.4043-326A>C
c.1198T>G (p.Tyr400Asp)
c.1216T>G (p.Tyr406Asp)
c.973T>G (p.Tyr325Asp)
c.1006T>G (p.Tyr336Asp)
c.1024T>G (p.Tyr342Asp)
2g.127428590T=CA1286884540PROCc.1030T= (p.Tyr344=)
c.354T=
c.1132T= (p.Tyr378=)
c.1213T= (p.Tyr405=)
c.1195T= (p.Tyr399=)
c.1093T= (p.Tyr365=)
n.1332-326A=
c.1273T= (p.Tyr425=)
c.1375T= (p.Tyr459=)
c.1315T= (p.Tyr439=)
n.3607-326A=
n.4043-326A=
c.1198T= (p.Tyr400=)
c.1216T= (p.Tyr406=)
c.973T= (p.Tyr325=)
c.1006T= (p.Tyr336=)
c.1024T= (p.Tyr342=)
2g.127428591A=CA1286884541PROCc.1031A= (p.Tyr344=)
c.355A=
c.1133A= (p.Tyr378=)
c.1214A= (p.Tyr405=)
c.1196A= (p.Tyr399=)
c.1094A= (p.Tyr365=)
n.1332-327T=
c.1274A= (p.Tyr425=)
c.1376A= (p.Tyr459=)
c.1316A= (p.Tyr439=)
n.3607-327T=
n.4043-327T=
c.1199A= (p.Tyr400=)
c.1217A= (p.Tyr406=)
c.974A= (p.Tyr325=)
c.1007A= (p.Tyr336=)
c.1025A= (p.Tyr342=)
2g.127428591A>CCA348405551PROCc.1031A>C (p.Tyr344Ser)
c.355A>C
c.1133A>C (p.Tyr378Ser)
c.1214A>C (p.Tyr405Ser)
c.1196A>C (p.Tyr399Ser)
c.1094A>C (p.Tyr365Ser)
n.1332-327T>G
c.1274A>C (p.Tyr425Ser)
c.1376A>C (p.Tyr459Ser)
c.1316A>C (p.Tyr439Ser)
n.3607-327T>G
n.4043-327T>G
c.1199A>C (p.Tyr400Ser)
c.1217A>C (p.Tyr406Ser)
c.974A>C (p.Tyr325Ser)
c.1007A>C (p.Tyr336Ser)
c.1025A>C (p.Tyr342Ser)
2g.127428591A>GCA348405555PROCc.1031A>G (p.Tyr344Cys)
c.355A>G
c.1133A>G (p.Tyr378Cys)
c.1214A>G (p.Tyr405Cys)
c.1196A>G (p.Tyr399Cys)
c.1094A>G (p.Tyr365Cys)
n.1332-327T>C
c.1274A>G (p.Tyr425Cys)
c.1376A>G (p.Tyr459Cys)
c.1316A>G (p.Tyr439Cys)
n.3607-327T>C
n.4043-327T>C
c.1199A>G (p.Tyr400Cys)
c.1217A>G (p.Tyr406Cys)
c.974A>G (p.Tyr325Cys)
c.1007A>G (p.Tyr336Cys)
c.1025A>G (p.Tyr342Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.127428591A>TCA348405552PROCc.1031A>T (p.Tyr344Phe)
c.355A>T
c.1133A>T (p.Tyr378Phe)
c.1214A>T (p.Tyr405Phe)
c.1196A>T (p.Tyr399Phe)
c.1094A>T (p.Tyr365Phe)
n.1332-327T>A
c.1274A>T (p.Tyr425Phe)
c.1376A>T (p.Tyr459Phe)
c.1316A>T (p.Tyr439Phe)
n.3607-327T>A
n.4043-327T>A
c.1199A>T (p.Tyr400Phe)
c.1217A>T (p.Tyr406Phe)
c.974A>T (p.Tyr325Phe)
c.1007A>T (p.Tyr336Phe)
c.1025A>T (p.Tyr342Phe)
2g.127428592C>ACA348405557PROCc.1032C>A (p.Tyr344Ter)
c.356C>A
c.1134C>A (p.Tyr378Ter)
c.1215C>A (p.Tyr405Ter)
c.1197C>A (p.Tyr399Ter)
c.1095C>A (p.Tyr365Ter)
n.1332-328G>T
c.1275C>A (p.Tyr425Ter)
c.1377C>A (p.Tyr459Ter)
c.1317C>A (p.Tyr439Ter)
n.3607-328G>T
n.4043-328G>T
c.1200C>A (p.Tyr400Ter)
c.1218C>A (p.Tyr406Ter)
c.975C>A (p.Tyr325Ter)
c.1008C>A (p.Tyr336Ter)
c.1026C>A (p.Tyr342Ter)
2g.127428592C>GCA348405559PROCc.1032C>G (p.Tyr344Ter)
c.356C>G
c.1134C>G (p.Tyr378Ter)
c.1215C>G (p.Tyr405Ter)
c.1197C>G (p.Tyr399Ter)
c.1095C>G (p.Tyr365Ter)
n.1332-328G>C
c.1275C>G (p.Tyr425Ter)
c.1377C>G (p.Tyr459Ter)
c.1317C>G (p.Tyr439Ter)
n.3607-328G>C
n.4043-328G>C
c.1200C>G (p.Tyr400Ter)
c.1218C>G (p.Tyr406Ter)
c.975C>G (p.Tyr325Ter)
c.1008C>G (p.Tyr336Ter)
c.1026C>G (p.Tyr342Ter)
2g.127428592C>TCA428872010PROCc.1032C>T (p.Tyr344=)
c.356C>T
c.1134C>T (p.Tyr378=)
c.1215C>T (p.Tyr405=)
c.1197C>T (p.Tyr399=)
c.1095C>T (p.Tyr365=)
n.1332-328G>A
c.1275C>T (p.Tyr425=)
c.1377C>T (p.Tyr459=)
c.1317C>T (p.Tyr439=)
n.3607-328G>A
n.4043-328G>A
c.1200C>T (p.Tyr400=)
c.1218C>T (p.Tyr406=)
c.975C>T (p.Tyr325=)
c.1008C>T (p.Tyr336=)
c.1026C>T (p.Tyr342=)
 gnomAD v4 COSMIC COSMIC
2g.127428593C>ACA348405562PROCc.1033C>A (p.His345Asn)
c.357C>A
c.1135C>A (p.His379Asn)
c.1216C>A (p.His406Asn)
c.1198C>A (p.His400Asn)
c.1096C>A (p.His366Asn)
n.1332-329G>T
c.1276C>A (p.His426Asn)
c.1378C>A (p.His460Asn)
c.1318C>A (p.His440Asn)
n.3607-329G>T
n.4043-329G>T
c.1201C>A (p.His401Asn)
c.1219C>A (p.His407Asn)
c.976C>A (p.His326Asn)
c.1009C>A (p.His337Asn)
c.1027C>A (p.His343Asn)
2g.127428593C>GCA348405564PROCc.1033C>G (p.His345Asp)
c.357C>G
c.1135C>G (p.His379Asp)
c.1216C>G (p.His406Asp)
c.1198C>G (p.His400Asp)
c.1096C>G (p.His366Asp)
n.1332-329G>C
c.1276C>G (p.His426Asp)
c.1378C>G (p.His460Asp)
c.1318C>G (p.His440Asp)
n.3607-329G>C
n.4043-329G>C
c.1201C>G (p.His401Asp)
c.1219C>G (p.His407Asp)
c.976C>G (p.His326Asp)
c.1009C>G (p.His337Asp)
c.1027C>G (p.His343Asp)
 COSMIC COSMIC
2g.127428593C>TCA348405569PROCc.1033C>T (p.His345Tyr)
c.357C>T
c.1135C>T (p.His379Tyr)
c.1216C>T (p.His406Tyr)
c.1198C>T (p.His400Tyr)
c.1096C>T (p.His366Tyr)
n.1332-329G>A
c.1276C>T (p.His426Tyr)
c.1378C>T (p.His460Tyr)
c.1318C>T (p.His440Tyr)
n.3607-329G>A
n.4043-329G>A
c.1201C>T (p.His401Tyr)
c.1219C>T (p.His407Tyr)
c.976C>T (p.His326Tyr)
c.1009C>T (p.His337Tyr)
c.1027C>T (p.His343Tyr)
2g.127428594A>CCA348405571PROCc.1034A>C (p.His345Pro)
c.358A>C
c.1136A>C (p.His379Pro)
c.1217A>C (p.His406Pro)
c.1199A>C (p.His400Pro)
c.1097A>C (p.His366Pro)
n.1332-330T>G
c.1277A>C (p.His426Pro)
c.1379A>C (p.His460Pro)
c.1319A>C (p.His440Pro)
n.3607-330T>G
n.4043-330T>G
c.1202A>C (p.His401Pro)
c.1220A>C (p.His407Pro)
c.977A>C (p.His326Pro)
c.1010A>C (p.His337Pro)
c.1028A>C (p.His343Pro)
2g.127428594A>GCA348405573PROCc.1034A>G (p.His345Arg)
c.358A>G
c.1136A>G (p.His379Arg)
c.1217A>G (p.His406Arg)
c.1199A>G (p.His400Arg)
c.1097A>G (p.His366Arg)
n.1332-330T>C
c.1277A>G (p.His426Arg)
c.1379A>G (p.His460Arg)
c.1319A>G (p.His440Arg)
n.3607-330T>C
n.4043-330T>C
c.1202A>G (p.His401Arg)
c.1220A>G (p.His407Arg)
c.977A>G (p.His326Arg)
c.1010A>G (p.His337Arg)
c.1028A>G (p.His343Arg)
2g.127428594A>TCA348405575PROCc.1034A>T (p.His345Leu)
c.358A>T
c.1136A>T (p.His379Leu)
c.1217A>T (p.His406Leu)
c.1199A>T (p.His400Leu)
c.1097A>T (p.His366Leu)
n.1332-330T>A
c.1277A>T (p.His426Leu)
c.1379A>T (p.His460Leu)
c.1319A>T (p.His440Leu)
n.3607-330T>A
n.4043-330T>A
c.1202A>T (p.His401Leu)
c.1220A>T (p.His407Leu)
c.977A>T (p.His326Leu)
c.1010A>T (p.His337Leu)
c.1028A>T (p.His343Leu)
2g.127428595C>ACA348405577PROCc.1035C>A (p.His345Gln)
c.359C>A
c.1137C>A (p.His379Gln)
c.1218C>A (p.His406Gln)
c.1200C>A (p.His400Gln)
c.1098C>A (p.His366Gln)
n.1332-331G>T
c.1278C>A (p.His426Gln)
c.1380C>A (p.His460Gln)
c.1320C>A (p.His440Gln)
n.3607-331G>T
n.4043-331G>T
c.1203C>A (p.His401Gln)
c.1221C>A (p.His407Gln)
c.978C>A (p.His326Gln)
c.1011C>A (p.His337Gln)
c.1029C>A (p.His343Gln)
 COSMIC
2g.127428595C=CA1286884542PROCc.1035C= (p.His345=)
c.359C=
c.1137C= (p.His379=)
c.1218C= (p.His406=)
c.1200C= (p.His400=)
c.1098C= (p.His366=)
n.1332-331G=
c.1278C= (p.His426=)
c.1380C= (p.His460=)
c.1320C= (p.His440=)
n.3607-331G=
n.4043-331G=
c.1203C= (p.His401=)
c.1221C= (p.His407=)
c.978C= (p.His326=)
c.1011C= (p.His337=)
c.1029C= (p.His343=)
2g.127428595C>GCA55350962PROCc.1035C>G (p.His345Gln)
c.359C>G
c.1137C>G (p.His379Gln)
c.1218C>G (p.His406Gln)
c.1200C>G (p.His400Gln)
c.1098C>G (p.His366Gln)
n.1332-331G>C
c.1278C>G (p.His426Gln)
c.1380C>G (p.His460Gln)
c.1320C>G (p.His440Gln)
n.3607-331G>C
n.4043-331G>C
c.1203C>G (p.His401Gln)
c.1221C>G (p.His407Gln)
c.978C>G (p.His326Gln)
c.1011C>G (p.His337Gln)
c.1029C>G (p.His343Gln)
 dbSNP
2g.127428595C>TCA428872022PROCc.1035C>T (p.His345=)
c.359C>T
c.1137C>T (p.His379=)
c.1218C>T (p.His406=)
c.1200C>T (p.His400=)
c.1098C>T (p.His366=)
n.1332-331G>A
c.1278C>T (p.His426=)
c.1380C>T (p.His460=)
c.1320C>T (p.His440=)
n.3607-331G>A
n.4043-331G>A
c.1203C>T (p.His401=)
c.1221C>T (p.His407=)
c.978C>T (p.His326=)
c.1011C>T (p.His337=)
c.1029C>T (p.His343=)
2g.127428596A>CCA348405581PROCc.1036A>C (p.Ser346Arg)
c.360A>C
c.1138A>C (p.Ser380Arg)
c.1219A>C (p.Ser407Arg)
c.1201A>C (p.Ser401Arg)
c.1099A>C (p.Ser367Arg)
n.1332-332T>G
c.1279A>C (p.Ser427Arg)
c.1381A>C (p.Ser461Arg)
c.1321A>C (p.Ser441Arg)
n.3607-332T>G
n.4043-332T>G
c.1204A>C (p.Ser402Arg)
c.1222A>C (p.Ser408Arg)
c.979A>C (p.Ser327Arg)
c.1012A>C (p.Ser338Arg)
c.1030A>C (p.Ser344Arg)
2g.127428596A>GCA348405583PROCc.1036A>G (p.Ser346Gly)
c.360A>G
c.1138A>G (p.Ser380Gly)
c.1219A>G (p.Ser407Gly)
c.1201A>G (p.Ser401Gly)
c.1099A>G (p.Ser367Gly)
n.1332-332T>C
c.1279A>G (p.Ser427Gly)
c.1381A>G (p.Ser461Gly)
c.1321A>G (p.Ser441Gly)
n.3607-332T>C
n.4043-332T>C
c.1204A>G (p.Ser402Gly)
c.1222A>G (p.Ser408Gly)
c.979A>G (p.Ser327Gly)
c.1012A>G (p.Ser338Gly)
c.1030A>G (p.Ser344Gly)
2g.127428596A>TCA348405585PROCc.1036A>T (p.Ser346Cys)
c.360A>T
c.1138A>T (p.Ser380Cys)
c.1219A>T (p.Ser407Cys)
c.1201A>T (p.Ser401Cys)
c.1099A>T (p.Ser367Cys)
n.1332-332T>A
c.1279A>T (p.Ser427Cys)
c.1381A>T (p.Ser461Cys)
c.1321A>T (p.Ser441Cys)
n.3607-332T>A
n.4043-332T>A
c.1204A>T (p.Ser402Cys)
c.1222A>T (p.Ser408Cys)
c.979A>T (p.Ser327Cys)
c.1012A>T (p.Ser338Cys)
c.1030A>T (p.Ser344Cys)
2g.127428597G>ACA348405588PROCc.1037G>A (p.Ser346Asn)
c.361G>A
c.1139G>A (p.Ser380Asn)
c.1220G>A (p.Ser407Asn)
c.1202G>A (p.Ser401Asn)
c.1100G>A (p.Ser367Asn)
n.1332-333C>T
c.1280G>A (p.Ser427Asn)
c.1382G>A (p.Ser461Asn)
c.1322G>A (p.Ser441Asn)
n.3607-333C>T
n.4043-333C>T
c.1205G>A (p.Ser402Asn)
c.1223G>A (p.Ser408Asn)
c.980G>A (p.Ser327Asn)
c.1013G>A (p.Ser338Asn)
c.1031G>A (p.Ser344Asn)
2g.127428597G>CCA348405592PROCc.1037G>C (p.Ser346Thr)
c.361G>C
c.1139G>C (p.Ser380Thr)
c.1220G>C (p.Ser407Thr)
c.1202G>C (p.Ser401Thr)
c.1100G>C (p.Ser367Thr)
n.1332-333C>G
c.1280G>C (p.Ser427Thr)
c.1382G>C (p.Ser461Thr)
c.1322G>C (p.Ser441Thr)
n.3607-333C>G
n.4043-333C>G
c.1205G>C (p.Ser402Thr)
c.1223G>C (p.Ser408Thr)
c.980G>C (p.Ser327Thr)
c.1013G>C (p.Ser338Thr)
c.1031G>C (p.Ser344Thr)
2g.127428597G>TCA348405590PROCc.1037G>T (p.Ser346Ile)
c.361G>T
c.1139G>T (p.Ser380Ile)
c.1220G>T (p.Ser407Ile)
c.1202G>T (p.Ser401Ile)
c.1100G>T (p.Ser367Ile)
n.1332-333C>A
c.1280G>T (p.Ser427Ile)
c.1382G>T (p.Ser461Ile)
c.1322G>T (p.Ser441Ile)
n.3607-333C>A
n.4043-333C>A
c.1205G>T (p.Ser402Ile)
c.1223G>T (p.Ser408Ile)
c.980G>T (p.Ser327Ile)
c.1013G>T (p.Ser338Ile)
c.1031G>T (p.Ser344Ile)
2g.127428598C>ACA348405595PROCc.1038C>A (p.Ser346Arg)
c.362C>A
c.1140C>A (p.Ser380Arg)
c.1221C>A (p.Ser407Arg)
c.1203C>A (p.Ser401Arg)
c.1101C>A (p.Ser367Arg)
n.1332-334G>T
c.1281C>A (p.Ser427Arg)
c.1383C>A (p.Ser461Arg)
c.1323C>A (p.Ser441Arg)
n.3607-334G>T
n.4043-334G>T
c.1206C>A (p.Ser402Arg)
c.1224C>A (p.Ser408Arg)
c.981C>A (p.Ser327Arg)
c.1014C>A (p.Ser338Arg)
c.1032C>A (p.Ser344Arg)
2g.127428598C>GCA348405596PROCc.1038C>G (p.Ser346Arg)
c.362C>G
c.1140C>G (p.Ser380Arg)
c.1221C>G (p.Ser407Arg)
c.1203C>G (p.Ser401Arg)
c.1101C>G (p.Ser367Arg)
n.1332-334G>C
c.1281C>G (p.Ser427Arg)
c.1383C>G (p.Ser461Arg)
c.1323C>G (p.Ser441Arg)
n.3607-334G>C
n.4043-334G>C
c.1206C>G (p.Ser402Arg)
c.1224C>G (p.Ser408Arg)
c.981C>G (p.Ser327Arg)
c.1014C>G (p.Ser338Arg)
c.1032C>G (p.Ser344Arg)
2g.127428598C>TCA428872035PROCc.1038C>T (p.Ser346=)
c.362C>T
c.1140C>T (p.Ser380=)
c.1221C>T (p.Ser407=)
c.1203C>T (p.Ser401=)
c.1101C>T (p.Ser367=)
n.1332-334G>A
c.1281C>T (p.Ser427=)
c.1383C>T (p.Ser461=)
c.1323C>T (p.Ser441=)
n.3607-334G>A
n.4043-334G>A
c.1206C>T (p.Ser402=)
c.1224C>T (p.Ser408=)
c.981C>T (p.Ser327=)
c.1014C>T (p.Ser338=)
c.1032C>T (p.Ser344=)
2g.127428599A>CCA348405599PROCc.1039A>C (p.Ser347Arg)
c.363A>C
c.1141A>C (p.Ser381Arg)
c.1222A>C (p.Ser408Arg)
c.1204A>C (p.Ser402Arg)
c.1102A>C (p.Ser368Arg)
n.1332-335T>G
c.1282A>C (p.Ser428Arg)
c.1384A>C (p.Ser462Arg)
c.1324A>C (p.Ser442Arg)
n.3607-335T>G
n.4043-335T>G
c.1207A>C (p.Ser403Arg)
c.1225A>C (p.Ser409Arg)
c.982A>C (p.Ser328Arg)
c.1015A>C (p.Ser339Arg)
c.1033A>C (p.Ser345Arg)
2g.127428599A>GCA348405601PROCc.1039A>G (p.Ser347Gly)
c.363A>G
c.1141A>G (p.Ser381Gly)
c.1222A>G (p.Ser408Gly)
c.1204A>G (p.Ser402Gly)
c.1102A>G (p.Ser368Gly)
n.1332-335T>C
c.1282A>G (p.Ser428Gly)
c.1384A>G (p.Ser462Gly)
c.1324A>G (p.Ser442Gly)
n.3607-335T>C
n.4043-335T>C
c.1207A>G (p.Ser403Gly)
c.1225A>G (p.Ser409Gly)
c.982A>G (p.Ser328Gly)
c.1015A>G (p.Ser339Gly)
c.1033A>G (p.Ser345Gly)
 gnomAD v4
2g.127428599A>TCA348405603PROCc.1039A>T (p.Ser347Cys)
c.363A>T
c.1141A>T (p.Ser381Cys)
c.1222A>T (p.Ser408Cys)
c.1204A>T (p.Ser402Cys)
c.1102A>T (p.Ser368Cys)
n.1332-335T>A
c.1282A>T (p.Ser428Cys)
c.1384A>T (p.Ser462Cys)
c.1324A>T (p.Ser442Cys)
n.3607-335T>A
n.4043-335T>A
c.1207A>T (p.Ser403Cys)
c.1225A>T (p.Ser409Cys)
c.982A>T (p.Ser328Cys)
c.1015A>T (p.Ser339Cys)
c.1033A>T (p.Ser345Cys)
2g.127428600G>ACA348405605PROCc.1040G>A (p.Ser347Asn)
c.364G>A
c.1142G>A (p.Ser381Asn)
c.1223G>A (p.Ser408Asn)
c.1205G>A (p.Ser402Asn)
c.1103G>A (p.Ser368Asn)
n.1332-336C>T
c.1283G>A (p.Ser428Asn)
c.1385G>A (p.Ser462Asn)
c.1325G>A (p.Ser442Asn)
n.3607-336C>T
n.4043-336C>T
c.1208G>A (p.Ser403Asn)
c.1226G>A (p.Ser409Asn)
c.983G>A (p.Ser328Asn)
c.1016G>A (p.Ser339Asn)
c.1034G>A (p.Ser345Asn)
2g.127428600G>CCA348405606PROCc.1040G>C (p.Ser347Thr)
c.364G>C
c.1142G>C (p.Ser381Thr)
c.1223G>C (p.Ser408Thr)
c.1205G>C (p.Ser402Thr)
c.1103G>C (p.Ser368Thr)
n.1332-336C>G
c.1283G>C (p.Ser428Thr)
c.1385G>C (p.Ser462Thr)
c.1325G>C (p.Ser442Thr)
n.3607-336C>G
n.4043-336C>G
c.1208G>C (p.Ser403Thr)
c.1226G>C (p.Ser409Thr)
c.983G>C (p.Ser328Thr)
c.1016G>C (p.Ser339Thr)
c.1034G>C (p.Ser345Thr)
2g.127428600G>TCA348405609PROCc.1040G>T (p.Ser347Ile)
c.364G>T
c.1142G>T (p.Ser381Ile)
c.1223G>T (p.Ser408Ile)
c.1205G>T (p.Ser402Ile)
c.1103G>T (p.Ser368Ile)
n.1332-336C>A
c.1283G>T (p.Ser428Ile)
c.1385G>T (p.Ser462Ile)
c.1325G>T (p.Ser442Ile)
n.3607-336C>A
n.4043-336C>A
c.1208G>T (p.Ser403Ile)
c.1226G>T (p.Ser409Ile)
c.983G>T (p.Ser328Ile)
c.1016G>T (p.Ser339Ile)
c.1034G>T (p.Ser345Ile)
2g.127428603_127428616dupCA2660997781PROCc.1043_1056dup (p.Lys353GlufsTer30)
c.367_380dup
c.1145_1158dup (p.Lys387GlufsTer30)
c.1226_1239dup (p.Lys414GlufsTer30)
c.1208_1221dup (p.Lys408GlufsTer30)
c.1106_1119dup (p.Lys374GlufsTer30)
n.1332-349_1332-336dup
c.1286_1299dup (p.Lys434GlufsTer30)
c.1388_1401dup (p.Lys468GlufsTer30)
c.1328_1341dup (p.Lys448GlufsTer30)
n.3607-349_3607-336dup
n.4043-349_4043-336dup
c.1211_1224dup (p.Lys409GlufsTer30)
c.1229_1242dup (p.Lys415GlufsTer30)
c.986_999dup (p.Lys334GlufsTer30)
c.1019_1032dup (p.Lys345GlufsTer30)
c.1037_1050dup (p.Lys351GlufsTer30)
 gnomAD v4
2g.127428601C>ACA348405611PROCc.1041C>A (p.Ser347Arg)
c.365C>A
c.1143C>A (p.Ser381Arg)
c.1224C>A (p.Ser408Arg)
c.1206C>A (p.Ser402Arg)
c.1104C>A (p.Ser368Arg)
n.1332-337G>T
c.1284C>A (p.Ser428Arg)
c.1386C>A (p.Ser462Arg)
c.1326C>A (p.Ser442Arg)
n.3607-337G>T
n.4043-337G>T
c.1209C>A (p.Ser403Arg)
c.1227C>A (p.Ser409Arg)
c.984C>A (p.Ser328Arg)
c.1017C>A (p.Ser339Arg)
c.1035C>A (p.Ser345Arg)
 COSMIC
2g.127428601C>GCA348405613PROCc.1041C>G (p.Ser347Arg)
c.365C>G
c.1143C>G (p.Ser381Arg)
c.1224C>G (p.Ser408Arg)
c.1206C>G (p.Ser402Arg)
c.1104C>G (p.Ser368Arg)
n.1332-337G>C
c.1284C>G (p.Ser428Arg)
c.1386C>G (p.Ser462Arg)
c.1326C>G (p.Ser442Arg)
n.3607-337G>C
n.4043-337G>C
c.1209C>G (p.Ser403Arg)
c.1227C>G (p.Ser409Arg)
c.984C>G (p.Ser328Arg)
c.1017C>G (p.Ser339Arg)
c.1035C>G (p.Ser345Arg)
2g.127428601C>TCA428872046PROCc.1041C>T (p.Ser347=)
c.365C>T
c.1143C>T (p.Ser381=)
c.1224C>T (p.Ser408=)
c.1206C>T (p.Ser402=)
c.1104C>T (p.Ser368=)
n.1332-337G>A
c.1284C>T (p.Ser428=)
c.1386C>T (p.Ser462=)
c.1326C>T (p.Ser442=)
n.3607-337G>A
n.4043-337G>A
c.1209C>T (p.Ser403=)
c.1227C>T (p.Ser409=)
c.984C>T (p.Ser328=)
c.1017C>T (p.Ser339=)
c.1035C>T (p.Ser345=)
2g.127428602C>ACA428872050PROCc.1042C>A (p.Arg348=)
c.366C>A
c.1144C>A (p.Arg382=)
c.1225C>A (p.Arg409=)
c.1207C>A (p.Arg403=)
c.1105C>A (p.Arg369=)
n.1332-338G>T
c.1285C>A (p.Arg429=)
c.1387C>A (p.Arg463=)
c.1327C>A (p.Arg443=)
n.3607-338G>T
n.4043-338G>T
c.1210C>A (p.Arg404=)
c.1228C>A (p.Arg410=)
c.985C>A (p.Arg329=)
c.1018C>A (p.Arg340=)
c.1036C>A (p.Arg346=)
 dbSNP gnomAD v3 gnomAD v4
2g.127428602C=CA1286884543PROCc.1042C= (p.Arg348=)
c.366C=
c.1144C= (p.Arg382=)
c.1225C= (p.Arg409=)
c.1207C= (p.Arg403=)
c.1105C= (p.Arg369=)
n.1332-338G=
c.1285C= (p.Arg429=)
c.1387C= (p.Arg463=)
c.1327C= (p.Arg443=)
n.3607-338G=
n.4043-338G=
c.1210C= (p.Arg404=)
c.1228C= (p.Arg410=)
c.985C= (p.Arg329=)
c.1018C= (p.Arg340=)
c.1036C= (p.Arg346=)
2g.127428602C>GCA348405616PROCc.1042C>G (p.Arg348Gly)
c.366C>G
c.1144C>G (p.Arg382Gly)
c.1225C>G (p.Arg409Gly)
c.1207C>G (p.Arg403Gly)
c.1105C>G (p.Arg369Gly)
n.1332-338G>C
c.1285C>G (p.Arg429Gly)
c.1387C>G (p.Arg463Gly)
c.1327C>G (p.Arg443Gly)
n.3607-338G>C
n.4043-338G>C
c.1210C>G (p.Arg404Gly)
c.1228C>G (p.Arg410Gly)
c.985C>G (p.Arg329Gly)
c.1018C>G (p.Arg340Gly)
c.1036C>G (p.Arg346Gly)
2g.127428602C>TCA114384PROCc.1042C>T (p.Arg348Ter)
c.366C>T
c.1144C>T (p.Arg382Ter)
c.1225C>T (p.Arg409Ter)
c.1207C>T (p.Arg403Ter)
c.1105C>T (p.Arg369Ter)
n.1332-338G>A
c.1285C>T (p.Arg429Ter)
c.1387C>T (p.Arg463Ter)
c.1327C>T (p.Arg443Ter)
n.3607-338G>A
n.4043-338G>A
c.1210C>T (p.Arg404Ter)
c.1228C>T (p.Arg410Ter)
c.985C>T (p.Arg329Ter)
c.1018C>T (p.Arg340Ter)
c.1036C>T (p.Arg346Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428602_127428604delinsCGACA1286884544PROCc.1042_1044delinsCGA (p.Arg348=)
c.366_368delinsCGA
c.1144_1146delinsCGA (p.Arg382=)
c.1225_1227delinsCGA (p.Arg409=)
c.1207_1209delinsCGA (p.Arg403=)
c.1105_1107delinsCGA (p.Arg369=)
n.1332-340_1332-338delinsTCG
c.1285_1287delinsCGA (p.Arg429=)
c.1387_1389delinsCGA (p.Arg463=)
c.1327_1329delinsCGA (p.Arg443=)
n.3607-340_3607-338delinsTCG
n.4043-340_4043-338delinsTCG
c.1210_1212delinsCGA (p.Arg404=)
c.1228_1230delinsCGA (p.Arg410=)
c.985_987delinsCGA (p.Arg329=)
c.1018_1020delinsCGA (p.Arg340=)
c.1036_1038delinsCGA (p.Arg346=)
2g.127428603G>ACA1859509PROCc.1043G>A (p.Arg348Gln)
c.367G>A
c.1145G>A (p.Arg382Gln)
c.1226G>A (p.Arg409Gln)
c.1208G>A (p.Arg403Gln)
c.1106G>A (p.Arg369Gln)
n.1332-339C>T
c.1286G>A (p.Arg429Gln)
c.1388G>A (p.Arg463Gln)
c.1328G>A (p.Arg443Gln)
n.3607-339C>T
n.4043-339C>T
c.1211G>A (p.Arg404Gln)
c.1229G>A (p.Arg410Gln)
c.986G>A (p.Arg329Gln)
c.1019G>A (p.Arg340Gln)
c.1037G>A (p.Arg346Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127428603G>CCA348405619PROCc.1043G>C (p.Arg348Pro)
c.367G>C
c.1145G>C (p.Arg382Pro)
c.1226G>C (p.Arg409Pro)
c.1208G>C (p.Arg403Pro)
c.1106G>C (p.Arg369Pro)
n.1332-339C>G
c.1286G>C (p.Arg429Pro)
c.1388G>C (p.Arg463Pro)
c.1328G>C (p.Arg443Pro)
n.3607-339C>G
n.4043-339C>G
c.1211G>C (p.Arg404Pro)
c.1229G>C (p.Arg410Pro)
c.986G>C (p.Arg329Pro)
c.1019G>C (p.Arg340Pro)
c.1037G>C (p.Arg346Pro)
2g.127428603G=CA1286884545PROCc.1043G= (p.Arg348=)
c.367G=
c.1145G= (p.Arg382=)
c.1226G= (p.Arg409=)
c.1208G= (p.Arg403=)
c.1106G= (p.Arg369=)
n.1332-339C=
c.1286G= (p.Arg429=)
c.1388G= (p.Arg463=)
c.1328G= (p.Arg443=)
n.3607-339C=
n.4043-339C=
c.1211G= (p.Arg404=)
c.1229G= (p.Arg410=)
c.986G= (p.Arg329=)
c.1019G= (p.Arg340=)
c.1037G= (p.Arg346=)
2g.127428603G>TCA348405621PROCc.1043G>T (p.Arg348Leu)
c.367G>T
c.1145G>T (p.Arg382Leu)
c.1226G>T (p.Arg409Leu)
c.1208G>T (p.Arg403Leu)
c.1106G>T (p.Arg369Leu)
n.1332-339C>A
c.1286G>T (p.Arg429Leu)
c.1388G>T (p.Arg463Leu)
c.1328G>T (p.Arg443Leu)
n.3607-339C>A
n.4043-339C>A
c.1211G>T (p.Arg404Leu)
c.1229G>T (p.Arg410Leu)
c.986G>T (p.Arg329Leu)
c.1019G>T (p.Arg340Leu)
c.1037G>T (p.Arg346Leu)
2g.127428607_127428608delCA536067712PROCc.1047_1048del (p.Lys350GlyfsTer22)
c.371_372del
c.1149_1150del (p.Lys384GlyfsTer22)
c.1230_1231del (p.Lys411GlyfsTer22)
c.1212_1213del (p.Lys405GlyfsTer22)
c.1110_1111del (p.Lys371GlyfsTer22)
n.1332-340_1332-339del
c.1290_1291del (p.Lys431GlyfsTer22)
c.1392_1393del (p.Lys465GlyfsTer22)
c.1332_1333del (p.Lys445GlyfsTer22)
n.3607-340_3607-339del
n.4043-340_4043-339del
c.1215_1216del (p.Lys406GlyfsTer22)
c.1233_1234del (p.Lys412GlyfsTer22)
c.990_991del (p.Lys331GlyfsTer22)
c.1023_1024del (p.Lys342GlyfsTer22)
c.1041_1042del (p.Lys348GlyfsTer22)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428604A>CCA428872060PROCc.1044A>C (p.Arg348=)
c.368A>C
c.1146A>C (p.Arg382=)
c.1227A>C (p.Arg409=)
c.1209A>C (p.Arg403=)
c.1107A>C (p.Arg369=)
n.1332-340T>G
c.1287A>C (p.Arg429=)
c.1389A>C (p.Arg463=)
c.1329A>C (p.Arg443=)
n.3607-340T>G
n.4043-340T>G
c.1212A>C (p.Arg404=)
c.1230A>C (p.Arg410=)
c.987A>C (p.Arg329=)
c.1020A>C (p.Arg340=)
c.1038A>C (p.Arg346=)
2g.127428604A>GCA428872062PROCc.1044A>G (p.Arg348=)
c.368A>G
c.1146A>G (p.Arg382=)
c.1227A>G (p.Arg409=)
c.1209A>G (p.Arg403=)
c.1107A>G (p.Arg369=)
n.1332-340T>C
c.1287A>G (p.Arg429=)
c.1389A>G (p.Arg463=)
c.1329A>G (p.Arg443=)
n.3607-340T>C
n.4043-340T>C
c.1212A>G (p.Arg404=)
c.1230A>G (p.Arg410=)
c.987A>G (p.Arg329=)
c.1020A>G (p.Arg340=)
c.1038A>G (p.Arg346=)
 gnomAD v4
2g.127428604A>TCA428872064PROCc.1044A>T (p.Arg348=)
c.368A>T
c.1146A>T (p.Arg382=)
c.1227A>T (p.Arg409=)
c.1209A>T (p.Arg403=)
c.1107A>T (p.Arg369=)
n.1332-340T>A
c.1287A>T (p.Arg429=)
c.1389A>T (p.Arg463=)
c.1329A>T (p.Arg443=)
n.3607-340T>A
n.4043-340T>A
c.1212A>T (p.Arg404=)
c.1230A>T (p.Arg410=)
c.987A>T (p.Arg329=)
c.1020A>T (p.Arg340=)
c.1038A>T (p.Arg346=)
2g.127428605G>ACA348405624PROCc.1045G>A (p.Glu349Lys)
c.369G>A
c.1147G>A (p.Glu383Lys)
c.1228G>A (p.Glu410Lys)
c.1210G>A (p.Glu404Lys)
c.1108G>A (p.Glu370Lys)
n.1332-341C>T
c.1288G>A (p.Glu430Lys)
c.1390G>A (p.Glu464Lys)
c.1330G>A (p.Glu444Lys)
n.3607-341C>T
n.4043-341C>T
c.1213G>A (p.Glu405Lys)
c.1231G>A (p.Glu411Lys)
c.988G>A (p.Glu330Lys)
c.1021G>A (p.Glu341Lys)
c.1039G>A (p.Glu347Lys)
2g.127428605G>CCA348405625PROCc.1045G>C (p.Glu349Gln)
c.369G>C
c.1147G>C (p.Glu383Gln)
c.1228G>C (p.Glu410Gln)
c.1210G>C (p.Glu404Gln)
c.1108G>C (p.Glu370Gln)
n.1332-341C>G
c.1288G>C (p.Glu430Gln)
c.1390G>C (p.Glu464Gln)
c.1330G>C (p.Glu444Gln)
n.3607-341C>G
n.4043-341C>G
c.1213G>C (p.Glu405Gln)
c.1231G>C (p.Glu411Gln)
c.988G>C (p.Glu330Gln)
c.1021G>C (p.Glu341Gln)
c.1039G>C (p.Glu347Gln)
2g.127428605G>TCA348405626PROCc.1045G>T (p.Glu349Ter)
c.369G>T
c.1147G>T (p.Glu383Ter)
c.1228G>T (p.Glu410Ter)
c.1210G>T (p.Glu404Ter)
c.1108G>T (p.Glu370Ter)
n.1332-341C>A
c.1288G>T (p.Glu430Ter)
c.1390G>T (p.Glu464Ter)
c.1330G>T (p.Glu444Ter)
n.3607-341C>A
n.4043-341C>A
c.1213G>T (p.Glu405Ter)
c.1231G>T (p.Glu411Ter)
c.988G>T (p.Glu330Ter)
c.1021G>T (p.Glu341Ter)
c.1039G>T (p.Glu347Ter)
2g.127428606A=CA1286884546PROCc.1046A= (p.Glu349=)
c.370A=
c.1148A= (p.Glu383=)
c.1229A= (p.Glu410=)
c.1211A= (p.Glu404=)
c.1109A= (p.Glu370=)
n.1332-342T=
c.1289A= (p.Glu430=)
c.1391A= (p.Glu464=)
c.1331A= (p.Glu444=)
n.3607-342T=
n.4043-342T=
c.1214A= (p.Glu405=)
c.1232A= (p.Glu411=)
c.989A= (p.Glu330=)
c.1022A= (p.Glu341=)
c.1040A= (p.Glu347=)
2g.127428606A>CCA348405631PROCc.1046A>C (p.Glu349Ala)
c.370A>C
c.1148A>C (p.Glu383Ala)
c.1229A>C (p.Glu410Ala)
c.1211A>C (p.Glu404Ala)
c.1109A>C (p.Glu370Ala)
n.1332-342T>G
c.1289A>C (p.Glu430Ala)
c.1391A>C (p.Glu464Ala)
c.1331A>C (p.Glu444Ala)
n.3607-342T>G
n.4043-342T>G
c.1214A>C (p.Glu405Ala)
c.1232A>C (p.Glu411Ala)
c.989A>C (p.Glu330Ala)
c.1022A>C (p.Glu341Ala)
c.1040A>C (p.Glu347Ala)
2g.127428606A>GCA55350995PROCc.1046A>G (p.Glu349Gly)
c.370A>G
c.1148A>G (p.Glu383Gly)
c.1229A>G (p.Glu410Gly)
c.1211A>G (p.Glu404Gly)
c.1109A>G (p.Glu370Gly)
n.1332-342T>C
c.1289A>G (p.Glu430Gly)
c.1391A>G (p.Glu464Gly)
c.1331A>G (p.Glu444Gly)
n.3607-342T>C
n.4043-342T>C
c.1214A>G (p.Glu405Gly)
c.1232A>G (p.Glu411Gly)
c.989A>G (p.Glu330Gly)
c.1022A>G (p.Glu341Gly)
c.1040A>G (p.Glu347Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428606A>TCA348405630PROCc.1046A>T (p.Glu349Val)
c.370A>T
c.1148A>T (p.Glu383Val)
c.1229A>T (p.Glu410Val)
c.1211A>T (p.Glu404Val)
c.1109A>T (p.Glu370Val)
n.1332-342T>A
c.1289A>T (p.Glu430Val)
c.1391A>T (p.Glu464Val)
c.1331A>T (p.Glu444Val)
n.3607-342T>A
n.4043-342T>A
c.1214A>T (p.Glu405Val)
c.1232A>T (p.Glu411Val)
c.989A>T (p.Glu330Val)
c.1022A>T (p.Glu341Val)
c.1040A>T (p.Glu347Val)
2g.127428607G>ACA55351005PROCc.1047G>A (p.Glu349=)
c.371G>A
c.1149G>A (p.Glu383=)
c.1230G>A (p.Glu410=)
c.1212G>A (p.Glu404=)
c.1110G>A (p.Glu370=)
n.1332-343C>T
c.1290G>A (p.Glu430=)
c.1392G>A (p.Glu464=)
c.1332G>A (p.Glu444=)
n.3607-343C>T
n.4043-343C>T
c.1215G>A (p.Glu405=)
c.1233G>A (p.Glu411=)
c.990G>A (p.Glu330=)
c.1023G>A (p.Glu341=)
c.1041G>A (p.Glu347=)
 dbSNP gnomAD v4
2g.127428607G>CCA1859510PROCc.1047G>C (p.Glu349Asp)
c.371G>C
c.1149G>C (p.Glu383Asp)
c.1230G>C (p.Glu410Asp)
c.1212G>C (p.Glu404Asp)
c.1110G>C (p.Glu370Asp)
n.1332-343C>G
c.1290G>C (p.Glu430Asp)
c.1392G>C (p.Glu464Asp)
c.1332G>C (p.Glu444Asp)
n.3607-343C>G
n.4043-343C>G
c.1215G>C (p.Glu405Asp)
c.1233G>C (p.Glu411Asp)
c.990G>C (p.Glu330Asp)
c.1023G>C (p.Glu341Asp)
c.1041G>C (p.Glu347Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428607G=CA1286884547PROCc.1047G= (p.Glu349=)
c.371G=
c.1149G= (p.Glu383=)
c.1230G= (p.Glu410=)
c.1212G= (p.Glu404=)
c.1110G= (p.Glu370=)
n.1332-343C=
c.1290G= (p.Glu430=)
c.1392G= (p.Glu464=)
c.1332G= (p.Glu444=)
n.3607-343C=
n.4043-343C=
c.1215G= (p.Glu405=)
c.1233G= (p.Glu411=)
c.990G= (p.Glu330=)
c.1023G= (p.Glu341=)
c.1041G= (p.Glu347=)
2g.127428607G>TCA348405633PROCc.1047G>T (p.Glu349Asp)
c.371G>T
c.1149G>T (p.Glu383Asp)
c.1230G>T (p.Glu410Asp)
c.1212G>T (p.Glu404Asp)
c.1110G>T (p.Glu370Asp)
n.1332-343C>A
c.1290G>T (p.Glu430Asp)
c.1392G>T (p.Glu464Asp)
c.1332G>T (p.Glu444Asp)
n.3607-343C>A
n.4043-343C>A
c.1215G>T (p.Glu405Asp)
c.1233G>T (p.Glu411Asp)
c.990G>T (p.Glu330Asp)
c.1023G>T (p.Glu341Asp)
c.1041G>T (p.Glu347Asp)
2g.127428608A=CA1286884548PROCc.1048A= (p.Lys350=)
c.372A=
c.1150A= (p.Lys384=)
c.1231A= (p.Lys411=)
c.1213A= (p.Lys405=)
c.1111A= (p.Lys371=)
n.1332-344T=
c.1291A= (p.Lys431=)
c.1393A= (p.Lys465=)
c.1333A= (p.Lys445=)
n.3607-344T=
n.4043-344T=
c.1216A= (p.Lys406=)
c.1234A= (p.Lys412=)
c.991A= (p.Lys331=)
c.1024A= (p.Lys342=)
c.1042A= (p.Lys348=)
2g.127428608A>CCA348405636PROCc.1048A>C (p.Lys350Gln)
c.372A>C
c.1150A>C (p.Lys384Gln)
c.1231A>C (p.Lys411Gln)
c.1213A>C (p.Lys405Gln)
c.1111A>C (p.Lys371Gln)
n.1332-344T>G
c.1291A>C (p.Lys431Gln)
c.1393A>C (p.Lys465Gln)
c.1333A>C (p.Lys445Gln)
n.3607-344T>G
n.4043-344T>G
c.1216A>C (p.Lys406Gln)
c.1234A>C (p.Lys412Gln)
c.991A>C (p.Lys331Gln)
c.1024A>C (p.Lys342Gln)
c.1042A>C (p.Lys348Gln)
2g.127428608A>GCA348405638PROCc.1048A>G (p.Lys350Glu)
c.372A>G
c.1150A>G (p.Lys384Glu)
c.1231A>G (p.Lys411Glu)
c.1213A>G (p.Lys405Glu)
c.1111A>G (p.Lys371Glu)
n.1332-344T>C
c.1291A>G (p.Lys431Glu)
c.1393A>G (p.Lys465Glu)
c.1333A>G (p.Lys445Glu)
n.3607-344T>C
n.4043-344T>C
c.1216A>G (p.Lys406Glu)
c.1234A>G (p.Lys412Glu)
c.991A>G (p.Lys331Glu)
c.1024A>G (p.Lys342Glu)
c.1042A>G (p.Lys348Glu)
 ClinVar dbSNP gnomAD v4
2g.127428608A>TCA348405639PROCc.1048A>T (p.Lys350Ter)
c.372A>T
c.1150A>T (p.Lys384Ter)
c.1231A>T (p.Lys411Ter)
c.1213A>T (p.Lys405Ter)
c.1111A>T (p.Lys371Ter)
n.1332-344T>A
c.1291A>T (p.Lys431Ter)
c.1393A>T (p.Lys465Ter)
c.1333A>T (p.Lys445Ter)
n.3607-344T>A
n.4043-344T>A
c.1216A>T (p.Lys406Ter)
c.1234A>T (p.Lys412Ter)
c.991A>T (p.Lys331Ter)
c.1024A>T (p.Lys342Ter)
c.1042A>T (p.Lys348Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.127428609A=CA1286884549PROCc.1049A= (p.Lys350=)
c.373A=
c.1151A= (p.Lys384=)
c.1232A= (p.Lys411=)
c.1214A= (p.Lys405=)
c.1112A= (p.Lys371=)
n.1332-345T=
c.1292A= (p.Lys431=)
c.1394A= (p.Lys465=)
c.1334A= (p.Lys445=)
n.3607-345T=
n.4043-345T=
c.1217A= (p.Lys406=)
c.1235A= (p.Lys412=)
c.992A= (p.Lys331=)
c.1025A= (p.Lys342=)
c.1043A= (p.Lys348=)
2g.127428609A>CCA55351006PROCc.1049A>C (p.Lys350Thr)
c.373A>C
c.1151A>C (p.Lys384Thr)
c.1232A>C (p.Lys411Thr)
c.1214A>C (p.Lys405Thr)
c.1112A>C (p.Lys371Thr)
n.1332-345T>G
c.1292A>C (p.Lys431Thr)
c.1394A>C (p.Lys465Thr)
c.1334A>C (p.Lys445Thr)
n.3607-345T>G
n.4043-345T>G
c.1217A>C (p.Lys406Thr)
c.1235A>C (p.Lys412Thr)
c.992A>C (p.Lys331Thr)
c.1025A>C (p.Lys342Thr)
c.1043A>C (p.Lys348Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.127428609A>GCA348405645PROCc.1049A>G (p.Lys350Arg)
c.373A>G
c.1151A>G (p.Lys384Arg)
c.1232A>G (p.Lys411Arg)
c.1214A>G (p.Lys405Arg)
c.1112A>G (p.Lys371Arg)
n.1332-345T>C
c.1292A>G (p.Lys431Arg)
c.1394A>G (p.Lys465Arg)
c.1334A>G (p.Lys445Arg)
n.3607-345T>C
n.4043-345T>C
c.1217A>G (p.Lys406Arg)
c.1235A>G (p.Lys412Arg)
c.992A>G (p.Lys331Arg)
c.1025A>G (p.Lys342Arg)
c.1043A>G (p.Lys348Arg)
2g.127428609A>TCA348405643PROCc.1049A>T (p.Lys350Met)
c.373A>T
c.1151A>T (p.Lys384Met)
c.1232A>T (p.Lys411Met)
c.1214A>T (p.Lys405Met)
c.1112A>T (p.Lys371Met)
n.1332-345T>A
c.1292A>T (p.Lys431Met)
c.1394A>T (p.Lys465Met)
c.1334A>T (p.Lys445Met)
n.3607-345T>A
n.4043-345T>A
c.1217A>T (p.Lys406Met)
c.1235A>T (p.Lys412Met)
c.992A>T (p.Lys331Met)
c.1025A>T (p.Lys342Met)
c.1043A>T (p.Lys348Met)
2g.127428610G>ACA1859511PROCc.1050G>A (p.Lys350=)
c.374G>A
c.1152G>A (p.Lys384=)
c.1233G>A (p.Lys411=)
c.1215G>A (p.Lys405=)
c.1113G>A (p.Lys371=)
n.1332-346C>T
c.1293G>A (p.Lys431=)
c.1395G>A (p.Lys465=)
c.1335G>A (p.Lys445=)
n.3607-346C>T
n.4043-346C>T
c.1218G>A (p.Lys406=)
c.1236G>A (p.Lys412=)
c.993G>A (p.Lys331=)
c.1026G>A (p.Lys342=)
c.1044G>A (p.Lys348=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428610G>CCA348405648PROCc.1050G>C (p.Lys350Asn)
c.374G>C
c.1152G>C (p.Lys384Asn)
c.1233G>C (p.Lys411Asn)
c.1215G>C (p.Lys405Asn)
c.1113G>C (p.Lys371Asn)
n.1332-346C>G
c.1293G>C (p.Lys431Asn)
c.1395G>C (p.Lys465Asn)
c.1335G>C (p.Lys445Asn)
n.3607-346C>G
n.4043-346C>G
c.1218G>C (p.Lys406Asn)
c.1236G>C (p.Lys412Asn)
c.993G>C (p.Lys331Asn)
c.1026G>C (p.Lys342Asn)
c.1044G>C (p.Lys348Asn)
2g.127428610G=CA1286884550PROCc.1050G= (p.Lys350=)
c.374G=
c.1152G= (p.Lys384=)
c.1233G= (p.Lys411=)
c.1215G= (p.Lys405=)
c.1113G= (p.Lys371=)
n.1332-346C=
c.1293G= (p.Lys431=)
c.1395G= (p.Lys465=)
c.1335G= (p.Lys445=)
n.3607-346C=
n.4043-346C=
c.1218G= (p.Lys406=)
c.1236G= (p.Lys412=)
c.993G= (p.Lys331=)
c.1026G= (p.Lys342=)
c.1044G= (p.Lys348=)
2g.127428610G>TCA348405650PROCc.1050G>T (p.Lys350Asn)
c.374G>T
c.1152G>T (p.Lys384Asn)
c.1233G>T (p.Lys411Asn)
c.1215G>T (p.Lys405Asn)
c.1113G>T (p.Lys371Asn)
n.1332-346C>A
c.1293G>T (p.Lys431Asn)
c.1395G>T (p.Lys465Asn)
c.1335G>T (p.Lys445Asn)
n.3607-346C>A
n.4043-346C>A
c.1218G>T (p.Lys406Asn)
c.1236G>T (p.Lys412Asn)
c.993G>T (p.Lys331Asn)
c.1026G>T (p.Lys342Asn)
c.1044G>T (p.Lys348Asn)
2g.127428611G>ACA348405652PROCc.1051G>A (p.Glu351Lys)
c.375G>A
c.1153G>A (p.Glu385Lys)
c.1234G>A (p.Glu412Lys)
c.1216G>A (p.Glu406Lys)
c.1114G>A (p.Glu372Lys)
n.1332-347C>T
c.1294G>A (p.Glu432Lys)
c.1396G>A (p.Glu466Lys)
c.1336G>A (p.Glu446Lys)
n.3607-347C>T
n.4043-347C>T
c.1219G>A (p.Glu407Lys)
c.1237G>A (p.Glu413Lys)
c.994G>A (p.Glu332Lys)
c.1027G>A (p.Glu343Lys)
c.1045G>A (p.Glu349Lys)
2g.127428611G>CCA348405653PROCc.1051G>C (p.Glu351Gln)
c.375G>C
c.1153G>C (p.Glu385Gln)
c.1234G>C (p.Glu412Gln)
c.1216G>C (p.Glu406Gln)
c.1114G>C (p.Glu372Gln)
n.1332-347C>G
c.1294G>C (p.Glu432Gln)
c.1396G>C (p.Glu466Gln)
c.1336G>C (p.Glu446Gln)
n.3607-347C>G
n.4043-347C>G
c.1219G>C (p.Glu407Gln)
c.1237G>C (p.Glu413Gln)
c.994G>C (p.Glu332Gln)
c.1027G>C (p.Glu343Gln)
c.1045G>C (p.Glu349Gln)
2g.127428611G>TCA348405656PROCc.1051G>T (p.Glu351Ter)
c.375G>T
c.1153G>T (p.Glu385Ter)
c.1234G>T (p.Glu412Ter)
c.1216G>T (p.Glu406Ter)
c.1114G>T (p.Glu372Ter)
n.1332-347C>A
c.1294G>T (p.Glu432Ter)
c.1396G>T (p.Glu466Ter)
c.1336G>T (p.Glu446Ter)
n.3607-347C>A
n.4043-347C>A
c.1219G>T (p.Glu407Ter)
c.1237G>T (p.Glu413Ter)
c.994G>T (p.Glu332Ter)
c.1027G>T (p.Glu343Ter)
c.1045G>T (p.Glu349Ter)
2g.127428612A=CA1286884551PROCc.1052A= (p.Glu351=)
c.376A=
c.1154A= (p.Glu385=)
c.1235A= (p.Glu412=)
c.1217A= (p.Glu406=)
c.1115A= (p.Glu372=)
n.1332-348T=
c.1295A= (p.Glu432=)
c.1397A= (p.Glu466=)
c.1337A= (p.Glu446=)
n.3607-348T=
n.4043-348T=
c.1220A= (p.Glu407=)
c.1238A= (p.Glu413=)
c.995A= (p.Glu332=)
c.1028A= (p.Glu343=)
c.1046A= (p.Glu349=)
2g.127428612A>CCA348405658PROCc.1052A>C (p.Glu351Ala)
c.376A>C
c.1154A>C (p.Glu385Ala)
c.1235A>C (p.Glu412Ala)
c.1217A>C (p.Glu406Ala)
c.1115A>C (p.Glu372Ala)
n.1332-348T>G
c.1295A>C (p.Glu432Ala)
c.1397A>C (p.Glu466Ala)
c.1337A>C (p.Glu446Ala)
n.3607-348T>G
n.4043-348T>G
c.1220A>C (p.Glu407Ala)
c.1238A>C (p.Glu413Ala)
c.995A>C (p.Glu332Ala)
c.1028A>C (p.Glu343Ala)
c.1046A>C (p.Glu349Ala)
 dbSNP
2g.127428612A>GCA348405659PROCc.1052A>G (p.Glu351Gly)
c.376A>G
c.1154A>G (p.Glu385Gly)
c.1235A>G (p.Glu412Gly)
c.1217A>G (p.Glu406Gly)
c.1115A>G (p.Glu372Gly)
n.1332-348T>C
c.1295A>G (p.Glu432Gly)
c.1397A>G (p.Glu466Gly)
c.1337A>G (p.Glu446Gly)
n.3607-348T>C
n.4043-348T>C
c.1220A>G (p.Glu407Gly)
c.1238A>G (p.Glu413Gly)
c.995A>G (p.Glu332Gly)
c.1028A>G (p.Glu343Gly)
c.1046A>G (p.Glu349Gly)
2g.127428612A>TCA348405660PROCc.1052A>T (p.Glu351Val)
c.376A>T
c.1154A>T (p.Glu385Val)
c.1235A>T (p.Glu412Val)
c.1217A>T (p.Glu406Val)
c.1115A>T (p.Glu372Val)
n.1332-348T>A
c.1295A>T (p.Glu432Val)
c.1397A>T (p.Glu466Val)
c.1337A>T (p.Glu446Val)
n.3607-348T>A
n.4043-348T>A
c.1220A>T (p.Glu407Val)
c.1238A>T (p.Glu413Val)
c.995A>T (p.Glu332Val)
c.1028A>T (p.Glu343Val)
c.1046A>T (p.Glu349Val)
2g.127428613G>ACA428872906PROCc.1053G>A (p.Glu351=)
c.377G>A
c.1155G>A (p.Glu385=)
c.1236G>A (p.Glu412=)
c.1218G>A (p.Glu406=)
c.1116G>A (p.Glu372=)
n.1332-349C>T
c.1296G>A (p.Glu432=)
c.1398G>A (p.Glu466=)
c.1338G>A (p.Glu446=)
n.3607-349C>T
n.4043-349C>T
c.1221G>A (p.Glu407=)
c.1239G>A (p.Glu413=)
c.996G>A (p.Glu332=)
c.1029G>A (p.Glu343=)
c.1047G>A (p.Glu349=)
 dbSNP gnomAD v3 gnomAD v4
2g.127428613G>CCA348405661PROCc.1053G>C (p.Glu351Asp)
c.377G>C
c.1155G>C (p.Glu385Asp)
c.1236G>C (p.Glu412Asp)
c.1218G>C (p.Glu406Asp)
c.1116G>C (p.Glu372Asp)
n.1332-349C>G
c.1296G>C (p.Glu432Asp)
c.1398G>C (p.Glu466Asp)
c.1338G>C (p.Glu446Asp)
n.3607-349C>G
n.4043-349C>G
c.1221G>C (p.Glu407Asp)
c.1239G>C (p.Glu413Asp)
c.996G>C (p.Glu332Asp)
c.1029G>C (p.Glu343Asp)
c.1047G>C (p.Glu349Asp)
2g.127428613G=CA1286884552PROCc.1053G= (p.Glu351=)
c.377G=
c.1155G= (p.Glu385=)
c.1236G= (p.Glu412=)
c.1218G= (p.Glu406=)
c.1116G= (p.Glu372=)
n.1332-349C=
c.1296G= (p.Glu432=)
c.1398G= (p.Glu466=)
c.1338G= (p.Glu446=)
n.3607-349C=
n.4043-349C=
c.1221G= (p.Glu407=)
c.1239G= (p.Glu413=)
c.996G= (p.Glu332=)
c.1029G= (p.Glu343=)
c.1047G= (p.Glu349=)
2g.127428613G>TCA348405662PROCc.1053G>T (p.Glu351Asp)
c.377G>T
c.1155G>T (p.Glu385Asp)
c.1236G>T (p.Glu412Asp)
c.1218G>T (p.Glu406Asp)
c.1116G>T (p.Glu372Asp)
n.1332-349C>A
c.1296G>T (p.Glu432Asp)
c.1398G>T (p.Glu466Asp)
c.1338G>T (p.Glu446Asp)
n.3607-349C>A
n.4043-349C>A
c.1221G>T (p.Glu407Asp)
c.1239G>T (p.Glu413Asp)
c.996G>T (p.Glu332Asp)
c.1029G>T (p.Glu343Asp)
c.1047G>T (p.Glu349Asp)
2g.127428614G>ACA348405664PROCc.1054G>A (p.Ala352Thr)
c.378G>A
c.1156G>A (p.Ala386Thr)
c.1237G>A (p.Ala413Thr)
c.1219G>A (p.Ala407Thr)
c.1117G>A (p.Ala373Thr)
n.1332-350C>T
c.1297G>A (p.Ala433Thr)
c.1399G>A (p.Ala467Thr)
c.1339G>A (p.Ala447Thr)
n.3607-350C>T
n.4043-350C>T
c.1222G>A (p.Ala408Thr)
c.1240G>A (p.Ala414Thr)
c.997G>A (p.Ala333Thr)
c.1030G>A (p.Ala344Thr)
c.1048G>A (p.Ala350Thr)
2g.127428614G>CCA55351014PROCc.1054G>C (p.Ala352Pro)
c.378G>C
c.1156G>C (p.Ala386Pro)
c.1237G>C (p.Ala413Pro)
c.1219G>C (p.Ala407Pro)
c.1117G>C (p.Ala373Pro)
n.1332-350C>G
c.1297G>C (p.Ala433Pro)
c.1399G>C (p.Ala467Pro)
c.1339G>C (p.Ala447Pro)
n.3607-350C>G
n.4043-350C>G
c.1222G>C (p.Ala408Pro)
c.1240G>C (p.Ala414Pro)
c.997G>C (p.Ala333Pro)
c.1030G>C (p.Ala344Pro)
c.1048G>C (p.Ala350Pro)
 dbSNP
2g.127428614G=CA1286884553PROCc.1054G= (p.Ala352=)
c.378G=
c.1156G= (p.Ala386=)
c.1237G= (p.Ala413=)
c.1219G= (p.Ala407=)
c.1117G= (p.Ala373=)
n.1332-350C=
c.1297G= (p.Ala433=)
c.1399G= (p.Ala467=)
c.1339G= (p.Ala447=)
n.3607-350C=
n.4043-350C=
c.1222G= (p.Ala408=)
c.1240G= (p.Ala414=)
c.997G= (p.Ala333=)
c.1030G= (p.Ala344=)
c.1048G= (p.Ala350=)
2g.127428614G>TCA348405663PROCc.1054G>T (p.Ala352Ser)
c.378G>T
c.1156G>T (p.Ala386Ser)
c.1237G>T (p.Ala413Ser)
c.1219G>T (p.Ala407Ser)
c.1117G>T (p.Ala373Ser)
n.1332-350C>A
c.1297G>T (p.Ala433Ser)
c.1399G>T (p.Ala467Ser)
c.1339G>T (p.Ala447Ser)
n.3607-350C>A
n.4043-350C>A
c.1222G>T (p.Ala408Ser)
c.1240G>T (p.Ala414Ser)
c.997G>T (p.Ala333Ser)
c.1030G>T (p.Ala344Ser)
c.1048G>T (p.Ala350Ser)
2g.127428615C>ACA348405665PROCc.1055C>A (p.Ala352Asp)
c.379C>A
c.1157C>A (p.Ala386Asp)
c.1238C>A (p.Ala413Asp)
c.1220C>A (p.Ala407Asp)
c.1118C>A (p.Ala373Asp)
n.1332-351G>T
c.1298C>A (p.Ala433Asp)
c.1400C>A (p.Ala467Asp)
c.1340C>A (p.Ala447Asp)
n.3607-351G>T
n.4043-351G>T
c.1223C>A (p.Ala408Asp)
c.1241C>A (p.Ala414Asp)
c.998C>A (p.Ala333Asp)
c.1031C>A (p.Ala344Asp)
c.1049C>A (p.Ala350Asp)
2g.127428615C>GCA348405666PROCc.1055C>G (p.Ala352Gly)
c.379C>G
c.1157C>G (p.Ala386Gly)
c.1238C>G (p.Ala413Gly)
c.1220C>G (p.Ala407Gly)
c.1118C>G (p.Ala373Gly)
n.1332-351G>C
c.1298C>G (p.Ala433Gly)
c.1400C>G (p.Ala467Gly)
c.1340C>G (p.Ala447Gly)
n.3607-351G>C
n.4043-351G>C
c.1223C>G (p.Ala408Gly)
c.1241C>G (p.Ala414Gly)
c.998C>G (p.Ala333Gly)
c.1031C>G (p.Ala344Gly)
c.1049C>G (p.Ala350Gly)
2g.127428615C>TCA348405667PROCc.1055C>T (p.Ala352Val)
c.379C>T
c.1157C>T (p.Ala386Val)
c.1238C>T (p.Ala413Val)
c.1220C>T (p.Ala407Val)
c.1118C>T (p.Ala373Val)
n.1332-351G>A
c.1298C>T (p.Ala433Val)
c.1400C>T (p.Ala467Val)
c.1340C>T (p.Ala447Val)
n.3607-351G>A
n.4043-351G>A
c.1223C>T (p.Ala408Val)
c.1241C>T (p.Ala414Val)
c.998C>T (p.Ala333Val)
c.1031C>T (p.Ala344Val)
c.1049C>T (p.Ala350Val)
2g.127428616C>ACA428872925PROCc.1056C>A (p.Ala352=)
c.380C>A
c.1158C>A (p.Ala386=)
c.1239C>A (p.Ala413=)
c.1221C>A (p.Ala407=)
c.1119C>A (p.Ala373=)
n.1332-352G>T
c.1299C>A (p.Ala433=)
c.1401C>A (p.Ala467=)
c.1341C>A (p.Ala447=)
n.3607-352G>T
n.4043-352G>T
c.1224C>A (p.Ala408=)
c.1242C>A (p.Ala414=)
c.999C>A (p.Ala333=)
c.1032C>A (p.Ala344=)
c.1050C>A (p.Ala350=)
2g.127428616C>GCA428872929PROCc.1056C>G (p.Ala352=)
c.380C>G
c.1158C>G (p.Ala386=)
c.1239C>G (p.Ala413=)
c.1221C>G (p.Ala407=)
c.1119C>G (p.Ala373=)
n.1332-352G>C
c.1299C>G (p.Ala433=)
c.1401C>G (p.Ala467=)
c.1341C>G (p.Ala447=)
n.3607-352G>C
n.4043-352G>C
c.1224C>G (p.Ala408=)
c.1242C>G (p.Ala414=)
c.999C>G (p.Ala333=)
c.1032C>G (p.Ala344=)
c.1050C>G (p.Ala350=)
2g.127428616C>TCA428872927PROCc.1056C>T (p.Ala352=)
c.380C>T
c.1158C>T (p.Ala386=)
c.1239C>T (p.Ala413=)
c.1221C>T (p.Ala407=)
c.1119C>T (p.Ala373=)
n.1332-352G>A
c.1299C>T (p.Ala433=)
c.1401C>T (p.Ala467=)
c.1341C>T (p.Ala447=)
n.3607-352G>A
n.4043-352G>A
c.1224C>T (p.Ala408=)
c.1242C>T (p.Ala414=)
c.999C>T (p.Ala333=)
c.1032C>T (p.Ala344=)
c.1050C>T (p.Ala350=)
2g.127428617A>CCA348405668PROCc.1057A>C (p.Lys353Gln)
c.381A>C
c.1159A>C (p.Lys387Gln)
c.1240A>C (p.Lys414Gln)
c.1222A>C (p.Lys408Gln)
c.1120A>C (p.Lys374Gln)
n.1332-353T>G
c.1300A>C (p.Lys434Gln)
c.1402A>C (p.Lys468Gln)
c.1342A>C (p.Lys448Gln)
n.3607-353T>G
n.4043-353T>G
c.1225A>C (p.Lys409Gln)
c.1243A>C (p.Lys415Gln)
c.1000A>C (p.Lys334Gln)
c.1033A>C (p.Lys345Gln)
c.1051A>C (p.Lys351Gln)
2g.127428617A>GCA348405669PROCc.1057A>G (p.Lys353Glu)
c.381A>G
c.1159A>G (p.Lys387Glu)
c.1240A>G (p.Lys414Glu)
c.1222A>G (p.Lys408Glu)
c.1120A>G (p.Lys374Glu)
n.1332-353T>C
c.1300A>G (p.Lys434Glu)
c.1402A>G (p.Lys468Glu)
c.1342A>G (p.Lys448Glu)
n.3607-353T>C
n.4043-353T>C
c.1225A>G (p.Lys409Glu)
c.1243A>G (p.Lys415Glu)
c.1000A>G (p.Lys334Glu)
c.1033A>G (p.Lys345Glu)
c.1051A>G (p.Lys351Glu)
2g.127428617A>TCA348405670PROCc.1057A>T (p.Lys353Ter)
c.381A>T
c.1159A>T (p.Lys387Ter)
c.1240A>T (p.Lys414Ter)
c.1222A>T (p.Lys408Ter)
c.1120A>T (p.Lys374Ter)
n.1332-353T>A
c.1300A>T (p.Lys434Ter)
c.1402A>T (p.Lys468Ter)
c.1342A>T (p.Lys448Ter)
n.3607-353T>A
n.4043-353T>A
c.1225A>T (p.Lys409Ter)
c.1243A>T (p.Lys415Ter)
c.1000A>T (p.Lys334Ter)
c.1033A>T (p.Lys345Ter)
c.1051A>T (p.Lys351Ter)
2g.127428618A=CA1286884554PROCc.1058A= (p.Lys353=)
c.382A=
c.1160A= (p.Lys387=)
c.1241A= (p.Lys414=)
c.1223A= (p.Lys408=)
c.1121A= (p.Lys374=)
n.1332-354T=
c.1301A= (p.Lys434=)
c.1403A= (p.Lys468=)
c.1343A= (p.Lys448=)
n.3607-354T=
n.4043-354T=
c.1226A= (p.Lys409=)
c.1244A= (p.Lys415=)
c.1001A= (p.Lys334=)
c.1034A= (p.Lys345=)
c.1052A= (p.Lys351=)
2g.127428618A>CCA348405671PROCc.1058A>C (p.Lys353Thr)
c.382A>C
c.1160A>C (p.Lys387Thr)
c.1241A>C (p.Lys414Thr)
c.1223A>C (p.Lys408Thr)
c.1121A>C (p.Lys374Thr)
n.1332-354T>G
c.1301A>C (p.Lys434Thr)
c.1403A>C (p.Lys468Thr)
c.1343A>C (p.Lys448Thr)
n.3607-354T>G
n.4043-354T>G
c.1226A>C (p.Lys409Thr)
c.1244A>C (p.Lys415Thr)
c.1001A>C (p.Lys334Thr)
c.1034A>C (p.Lys345Thr)
c.1052A>C (p.Lys351Thr)
2g.127428618A>GCA1859512PROCc.1058A>G (p.Lys353Arg)
c.382A>G
c.1160A>G (p.Lys387Arg)
c.1241A>G (p.Lys414Arg)
c.1223A>G (p.Lys408Arg)
c.1121A>G (p.Lys374Arg)
n.1332-354T>C
c.1301A>G (p.Lys434Arg)
c.1403A>G (p.Lys468Arg)
c.1343A>G (p.Lys448Arg)
n.3607-354T>C
n.4043-354T>C
c.1226A>G (p.Lys409Arg)
c.1244A>G (p.Lys415Arg)
c.1001A>G (p.Lys334Arg)
c.1034A>G (p.Lys345Arg)
c.1052A>G (p.Lys351Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428618A>TCA348405672PROCc.1058A>T (p.Lys353Met)
c.382A>T
c.1160A>T (p.Lys387Met)
c.1241A>T (p.Lys414Met)
c.1223A>T (p.Lys408Met)
c.1121A>T (p.Lys374Met)
n.1332-354T>A
c.1301A>T (p.Lys434Met)
c.1403A>T (p.Lys468Met)
c.1343A>T (p.Lys448Met)
n.3607-354T>A
n.4043-354T>A
c.1226A>T (p.Lys409Met)
c.1244A>T (p.Lys415Met)
c.1001A>T (p.Lys334Met)
c.1034A>T (p.Lys345Met)
c.1052A>T (p.Lys351Met)
2g.127428619G>ACA428872940PROCc.1059G>A (p.Lys353=)
c.383G>A
c.1161G>A (p.Lys387=)
c.1242G>A (p.Lys414=)
c.1224G>A (p.Lys408=)
c.1122G>A (p.Lys374=)
n.1332-355C>T
c.1302G>A (p.Lys434=)
c.1404G>A (p.Lys468=)
c.1344G>A (p.Lys448=)
n.3607-355C>T
n.4043-355C>T
c.1227G>A (p.Lys409=)
c.1245G>A (p.Lys415=)
c.1002G>A (p.Lys334=)
c.1035G>A (p.Lys345=)
c.1053G>A (p.Lys351=)
 gnomAD v4
2g.127428619G>CCA348405674PROCc.1059G>C (p.Lys353Asn)
c.383G>C
c.1161G>C (p.Lys387Asn)
c.1242G>C (p.Lys414Asn)
c.1224G>C (p.Lys408Asn)
c.1122G>C (p.Lys374Asn)
n.1332-355C>G
c.1302G>C (p.Lys434Asn)
c.1404G>C (p.Lys468Asn)
c.1344G>C (p.Lys448Asn)
n.3607-355C>G
n.4043-355C>G
c.1227G>C (p.Lys409Asn)
c.1245G>C (p.Lys415Asn)
c.1002G>C (p.Lys334Asn)
c.1035G>C (p.Lys345Asn)
c.1053G>C (p.Lys351Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.127428619G=CA1286884555PROCc.1059G= (p.Lys353=)
c.383G=
c.1161G= (p.Lys387=)
c.1242G= (p.Lys414=)
c.1224G= (p.Lys408=)
c.1122G= (p.Lys374=)
n.1332-355C=
c.1302G= (p.Lys434=)
c.1404G= (p.Lys468=)
c.1344G= (p.Lys448=)
n.3607-355C=
n.4043-355C=
c.1227G= (p.Lys409=)
c.1245G= (p.Lys415=)
c.1002G= (p.Lys334=)
c.1035G= (p.Lys345=)
c.1053G= (p.Lys351=)
2g.127428619G>TCA348405675PROCc.1059G>T (p.Lys353Asn)
c.383G>T
c.1161G>T (p.Lys387Asn)
c.1242G>T (p.Lys414Asn)
c.1224G>T (p.Lys408Asn)
c.1122G>T (p.Lys374Asn)
n.1332-355C>A
c.1302G>T (p.Lys434Asn)
c.1404G>T (p.Lys468Asn)
c.1344G>T (p.Lys448Asn)
n.3607-355C>A
n.4043-355C>A
c.1227G>T (p.Lys409Asn)
c.1245G>T (p.Lys415Asn)
c.1002G>T (p.Lys334Asn)
c.1035G>T (p.Lys345Asn)
c.1053G>T (p.Lys351Asn)
 gnomAD v4
2g.127428620A>CCA428872942PROCc.1060A>C (p.Arg354=)
c.384A>C
c.1162A>C (p.Arg388=)
c.1243A>C (p.Arg415=)
c.1225A>C (p.Arg409=)
c.1123A>C (p.Arg375=)
n.1332-356T>G
c.1303A>C (p.Arg435=)
c.1405A>C (p.Arg469=)
c.1345A>C (p.Arg449=)
n.3607-356T>G
n.4043-356T>G
c.1228A>C (p.Arg410=)
c.1246A>C (p.Arg416=)
c.1003A>C (p.Arg335=)
c.1036A>C (p.Arg346=)
c.1054A>C (p.Arg352=)
2g.127428620A>GCA348405676PROCc.1060A>G (p.Arg354Gly)
c.384A>G
c.1162A>G (p.Arg388Gly)
c.1243A>G (p.Arg415Gly)
c.1225A>G (p.Arg409Gly)
c.1123A>G (p.Arg375Gly)
n.1332-356T>C
c.1303A>G (p.Arg435Gly)
c.1405A>G (p.Arg469Gly)
c.1345A>G (p.Arg449Gly)
n.3607-356T>C
n.4043-356T>C
c.1228A>G (p.Arg410Gly)
c.1246A>G (p.Arg416Gly)
c.1003A>G (p.Arg335Gly)
c.1036A>G (p.Arg346Gly)
c.1054A>G (p.Arg352Gly)
2g.127428620A>TCA348405677PROCc.1060A>T (p.Arg354Ter)
c.384A>T
c.1162A>T (p.Arg388Ter)
c.1243A>T (p.Arg415Ter)
c.1225A>T (p.Arg409Ter)
c.1123A>T (p.Arg375Ter)
n.1332-356T>A
c.1303A>T (p.Arg435Ter)
c.1405A>T (p.Arg469Ter)
c.1345A>T (p.Arg449Ter)
n.3607-356T>A
n.4043-356T>A
c.1228A>T (p.Arg410Ter)
c.1246A>T (p.Arg416Ter)
c.1003A>T (p.Arg335Ter)
c.1036A>T (p.Arg346Ter)
c.1054A>T (p.Arg352Ter)
2g.127428621G>ACA1859513PROCc.1061G>A (p.Arg354Lys)
c.385G>A
c.1163G>A (p.Arg388Lys)
c.1244G>A (p.Arg415Lys)
c.1226G>A (p.Arg409Lys)
c.1124G>A (p.Arg375Lys)
n.1332-357C>T
c.1304G>A (p.Arg435Lys)
c.1406G>A (p.Arg469Lys)
c.1346G>A (p.Arg449Lys)
n.3607-357C>T
n.4043-357C>T
c.1229G>A (p.Arg410Lys)
c.1247G>A (p.Arg416Lys)
c.1004G>A (p.Arg335Lys)
c.1037G>A (p.Arg346Lys)
c.1055G>A (p.Arg352Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.127428621G>CCA348405679PROCc.1061G>C (p.Arg354Thr)
c.385G>C
c.1163G>C (p.Arg388Thr)
c.1244G>C (p.Arg415Thr)
c.1226G>C (p.Arg409Thr)
c.1124G>C (p.Arg375Thr)
n.1332-357C>G
c.1304G>C (p.Arg435Thr)
c.1406G>C (p.Arg469Thr)
c.1346G>C (p.Arg449Thr)
n.3607-357C>G
n.4043-357C>G
c.1229G>C (p.Arg410Thr)
c.1247G>C (p.Arg416Thr)
c.1004G>C (p.Arg335Thr)
c.1037G>C (p.Arg346Thr)
c.1055G>C (p.Arg352Thr)
2g.127428621G=CA1286884556PROCc.1061G= (p.Arg354=)
c.385G=
c.1163G= (p.Arg388=)
c.1244G= (p.Arg415=)
c.1226G= (p.Arg409=)
c.1124G= (p.Arg375=)
n.1332-357C=
c.1304G= (p.Arg435=)
c.1406G= (p.Arg469=)
c.1346G= (p.Arg449=)
n.3607-357C=
n.4043-357C=
c.1229G= (p.Arg410=)
c.1247G= (p.Arg416=)
c.1004G= (p.Arg335=)
c.1037G= (p.Arg346=)
c.1055G= (p.Arg352=)
2g.127428621G>TCA348405678PROCc.1061G>T (p.Arg354Ile)
c.385G>T
c.1163G>T (p.Arg388Ile)
c.1244G>T (p.Arg415Ile)
c.1226G>T (p.Arg409Ile)
c.1124G>T (p.Arg375Ile)
n.1332-357C>A
c.1304G>T (p.Arg435Ile)
c.1406G>T (p.Arg469Ile)
c.1346G>T (p.Arg449Ile)
n.3607-357C>A
n.4043-357C>A
c.1229G>T (p.Arg410Ile)
c.1247G>T (p.Arg416Ile)
c.1004G>T (p.Arg335Ile)
c.1037G>T (p.Arg346Ile)
c.1055G>T (p.Arg352Ile)
2g.127428622A>CCA348405680PROCc.1062A>C (p.Arg354Ser)
c.386A>C
c.1164A>C (p.Arg388Ser)
c.1245A>C (p.Arg415Ser)
c.1227A>C (p.Arg409Ser)
c.1125A>C (p.Arg375Ser)
n.1332-358T>G
c.1305A>C (p.Arg435Ser)
c.1407A>C (p.Arg469Ser)
c.1347A>C (p.Arg449Ser)
n.3607-358T>G
n.4043-358T>G
c.1230A>C (p.Arg410Ser)
c.1248A>C (p.Arg416Ser)
c.1005A>C (p.Arg335Ser)
c.1038A>C (p.Arg346Ser)
c.1056A>C (p.Arg352Ser)
2g.127428622A>GCA428872953PROCc.1062A>G (p.Arg354=)
c.386A>G
c.1164A>G (p.Arg388=)
c.1245A>G (p.Arg415=)
c.1227A>G (p.Arg409=)
c.1125A>G (p.Arg375=)
n.1332-358T>C
c.1305A>G (p.Arg435=)
c.1407A>G (p.Arg469=)
c.1347A>G (p.Arg449=)
n.3607-358T>C
n.4043-358T>C
c.1230A>G (p.Arg410=)
c.1248A>G (p.Arg416=)
c.1005A>G (p.Arg335=)
c.1038A>G (p.Arg346=)
c.1056A>G (p.Arg352=)
2g.127428622A>TCA348405681PROCc.1062A>T (p.Arg354Ser)
c.386A>T
c.1164A>T (p.Arg388Ser)
c.1245A>T (p.Arg415Ser)
c.1227A>T (p.Arg409Ser)
c.1125A>T (p.Arg375Ser)
n.1332-358T>A
c.1305A>T (p.Arg435Ser)
c.1407A>T (p.Arg469Ser)
c.1347A>T (p.Arg449Ser)
n.3607-358T>A
n.4043-358T>A
c.1230A>T (p.Arg410Ser)
c.1248A>T (p.Arg416Ser)
c.1005A>T (p.Arg335Ser)
c.1038A>T (p.Arg346Ser)
c.1056A>T (p.Arg352Ser)
2g.127428623A>CCA348405682PROCc.1063A>C (p.Asn355His)
c.387A>C
c.1165A>C (p.Asn389His)
c.1246A>C (p.Asn416His)
c.1228A>C (p.Asn410His)
c.1126A>C (p.Asn376His)
n.1332-359T>G
c.1306A>C (p.Asn436His)
c.1408A>C (p.Asn470His)
c.1348A>C (p.Asn450His)
n.3607-359T>G
n.4043-359T>G
c.1231A>C (p.Asn411His)
c.1249A>C (p.Asn417His)
c.1006A>C (p.Asn336His)
c.1039A>C (p.Asn347His)
c.1057A>C (p.Asn353His)
2g.127428623A>GCA348405683PROCc.1063A>G (p.Asn355Asp)
c.387A>G
c.1165A>G (p.Asn389Asp)
c.1246A>G (p.Asn416Asp)
c.1228A>G (p.Asn410Asp)
c.1126A>G (p.Asn376Asp)
n.1332-359T>C
c.1306A>G (p.Asn436Asp)
c.1408A>G (p.Asn470Asp)
c.1348A>G (p.Asn450Asp)
n.3607-359T>C
n.4043-359T>C
c.1231A>G (p.Asn411Asp)
c.1249A>G (p.Asn417Asp)
c.1006A>G (p.Asn336Asp)
c.1039A>G (p.Asn347Asp)
c.1057A>G (p.Asn353Asp)
2g.127428623A>TCA348405684PROCc.1063A>T (p.Asn355Tyr)
c.387A>T
c.1165A>T (p.Asn389Tyr)
c.1246A>T (p.Asn416Tyr)
c.1228A>T (p.Asn410Tyr)
c.1126A>T (p.Asn376Tyr)
n.1332-359T>A
c.1306A>T (p.Asn436Tyr)
c.1408A>T (p.Asn470Tyr)
c.1348A>T (p.Asn450Tyr)
n.3607-359T>A
n.4043-359T>A
c.1231A>T (p.Asn411Tyr)
c.1249A>T (p.Asn417Tyr)
c.1006A>T (p.Asn336Tyr)
c.1039A>T (p.Asn347Tyr)
c.1057A>T (p.Asn353Tyr)
2g.127428624A>CCA348405686PROCc.1064A>C (p.Asn355Thr)
c.388A>C
c.1166A>C (p.Asn389Thr)
c.1247A>C (p.Asn416Thr)
c.1229A>C (p.Asn410Thr)
c.1127A>C (p.Asn376Thr)
n.1332-360T>G
c.1307A>C (p.Asn436Thr)
c.1409A>C (p.Asn470Thr)
c.1349A>C (p.Asn450Thr)
n.3607-360T>G
n.4043-360T>G
c.1232A>C (p.Asn411Thr)
c.1250A>C (p.Asn417Thr)
c.1007A>C (p.Asn336Thr)
c.1040A>C (p.Asn347Thr)
c.1058A>C (p.Asn353Thr)
2g.127428624A>GCA348405687PROCc.1064A>G (p.Asn355Ser)
c.388A>G
c.1166A>G (p.Asn389Ser)
c.1247A>G (p.Asn416Ser)
c.1229A>G (p.Asn410Ser)
c.1127A>G (p.Asn376Ser)
n.1332-360T>C
c.1307A>G (p.Asn436Ser)
c.1409A>G (p.Asn470Ser)
c.1349A>G (p.Asn450Ser)
n.3607-360T>C
n.4043-360T>C
c.1232A>G (p.Asn411Ser)
c.1250A>G (p.Asn417Ser)
c.1007A>G (p.Asn336Ser)
c.1040A>G (p.Asn347Ser)
c.1058A>G (p.Asn353Ser)
2g.127428624A>TCA348405688PROCc.1064A>T (p.Asn355Ile)
c.388A>T
c.1166A>T (p.Asn389Ile)
c.1247A>T (p.Asn416Ile)
c.1229A>T (p.Asn410Ile)
c.1127A>T (p.Asn376Ile)
n.1332-360T>A
c.1307A>T (p.Asn436Ile)
c.1409A>T (p.Asn470Ile)
c.1349A>T (p.Asn450Ile)
n.3607-360T>A
n.4043-360T>A
c.1232A>T (p.Asn411Ile)
c.1250A>T (p.Asn417Ile)
c.1007A>T (p.Asn336Ile)
c.1040A>T (p.Asn347Ile)
c.1058A>T (p.Asn353Ile)
2g.127428625C>ACA348405689PROCc.1065C>A (p.Asn355Lys)
c.389C>A
c.1167C>A (p.Asn389Lys)
c.1248C>A (p.Asn416Lys)
c.1230C>A (p.Asn410Lys)
c.1128C>A (p.Asn376Lys)
n.1332-361G>T
c.1308C>A (p.Asn436Lys)
c.1410C>A (p.Asn470Lys)
c.1350C>A (p.Asn450Lys)
n.3607-361G>T
n.4043-361G>T
c.1233C>A (p.Asn411Lys)
c.1251C>A (p.Asn417Lys)
c.1008C>A (p.Asn336Lys)
c.1041C>A (p.Asn347Lys)
c.1059C>A (p.Asn353Lys)
2g.127428625C=CA1286884557PROCc.1065C= (p.Asn355=)
c.389C=
c.1167C= (p.Asn389=)
c.1248C= (p.Asn416=)
c.1230C= (p.Asn410=)
c.1128C= (p.Asn376=)
n.1332-361G=
c.1308C= (p.Asn436=)
c.1410C= (p.Asn470=)
c.1350C= (p.Asn450=)
n.3607-361G=
n.4043-361G=
c.1233C= (p.Asn411=)
c.1251C= (p.Asn417=)
c.1008C= (p.Asn336=)
c.1041C= (p.Asn347=)
c.1059C= (p.Asn353=)
2g.127428625C>GCA348405690PROCc.1065C>G (p.Asn355Lys)
c.389C>G
c.1167C>G (p.Asn389Lys)
c.1248C>G (p.Asn416Lys)
c.1230C>G (p.Asn410Lys)
c.1128C>G (p.Asn376Lys)
n.1332-361G>C
c.1308C>G (p.Asn436Lys)
c.1410C>G (p.Asn470Lys)
c.1350C>G (p.Asn450Lys)
n.3607-361G>C
n.4043-361G>C
c.1233C>G (p.Asn411Lys)
c.1251C>G (p.Asn417Lys)
c.1008C>G (p.Asn336Lys)
c.1041C>G (p.Asn347Lys)
c.1059C>G (p.Asn353Lys)
2g.127428625C>TCA1859514PROCc.1065C>T (p.Asn355=)
c.389C>T
c.1167C>T (p.Asn389=)
c.1248C>T (p.Asn416=)
c.1230C>T (p.Asn410=)
c.1128C>T (p.Asn376=)
n.1332-361G>A
c.1308C>T (p.Asn436=)
c.1410C>T (p.Asn470=)
c.1350C>T (p.Asn450=)
n.3607-361G>A
n.4043-361G>A
c.1233C>T (p.Asn411=)
c.1251C>T (p.Asn417=)
c.1008C>T (p.Asn336=)
c.1041C>T (p.Asn347=)
c.1059C>T (p.Asn353=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428626delCA2586969915PROCc.1066del (p.Arg356AlafsTer22)
c.390del
c.1168del (p.Arg390AlafsTer22)
c.1249del (p.Arg417AlafsTer22)
c.1231del (p.Arg411AlafsTer22)
c.1129del (p.Arg377AlafsTer22)
n.1332-361del
c.1309del (p.Arg437AlafsTer22)
c.1411del (p.Arg471AlafsTer22)
c.1351del (p.Arg451AlafsTer22)
n.3607-361del
n.4043-361del
c.1234del (p.Arg412AlafsTer22)
c.1252del (p.Arg418AlafsTer22)
c.1009del (p.Arg337AlafsTer22)
c.1042del (p.Arg348AlafsTer22)
c.1060del (p.Arg354AlafsTer22)
2g.127428626C>ACA348405691PROCc.1066C>A (p.Arg356Ser)
c.390C>A
c.1168C>A (p.Arg390Ser)
c.1249C>A (p.Arg417Ser)
c.1231C>A (p.Arg411Ser)
c.1129C>A (p.Arg377Ser)
n.1332-362G>T
c.1309C>A (p.Arg437Ser)
c.1411C>A (p.Arg471Ser)
c.1351C>A (p.Arg451Ser)
n.3607-362G>T
n.4043-362G>T
c.1234C>A (p.Arg412Ser)
c.1252C>A (p.Arg418Ser)
c.1009C>A (p.Arg337Ser)
c.1042C>A (p.Arg348Ser)
c.1060C>A (p.Arg354Ser)
2g.127428626C=CA1286884558PROCc.1066C= (p.Arg356=)
c.390C=
c.1168C= (p.Arg390=)
c.1249C= (p.Arg417=)
c.1231C= (p.Arg411=)
c.1129C= (p.Arg377=)
n.1332-362G=
c.1309C= (p.Arg437=)
c.1411C= (p.Arg471=)
c.1351C= (p.Arg451=)
n.3607-362G=
n.4043-362G=
c.1234C= (p.Arg412=)
c.1252C= (p.Arg418=)
c.1009C= (p.Arg337=)
c.1042C= (p.Arg348=)
c.1060C= (p.Arg354=)
2g.127428626C>GCA348405692PROCc.1066C>G (p.Arg356Gly)
c.390C>G
c.1168C>G (p.Arg390Gly)
c.1249C>G (p.Arg417Gly)
c.1231C>G (p.Arg411Gly)
c.1129C>G (p.Arg377Gly)
n.1332-362G>C
c.1309C>G (p.Arg437Gly)
c.1411C>G (p.Arg471Gly)
c.1351C>G (p.Arg451Gly)
n.3607-362G>C
n.4043-362G>C
c.1234C>G (p.Arg412Gly)
c.1252C>G (p.Arg418Gly)
c.1009C>G (p.Arg337Gly)
c.1042C>G (p.Arg348Gly)
c.1060C>G (p.Arg354Gly)
2g.127428626C>TCA1859515PROCc.1066C>T (p.Arg356Cys)
c.390C>T
c.1168C>T (p.Arg390Cys)
c.1249C>T (p.Arg417Cys)
c.1231C>T (p.Arg411Cys)
c.1129C>T (p.Arg377Cys)
n.1332-362G>A
c.1309C>T (p.Arg437Cys)
c.1411C>T (p.Arg471Cys)
c.1351C>T (p.Arg451Cys)
n.3607-362G>A
n.4043-362G>A
c.1234C>T (p.Arg412Cys)
c.1252C>T (p.Arg418Cys)
c.1009C>T (p.Arg337Cys)
c.1042C>T (p.Arg348Cys)
c.1060C>T (p.Arg354Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428627G>ACA1859516PROCc.1067G>A (p.Arg356His)
c.391G>A
c.1169G>A (p.Arg390His)
c.1250G>A (p.Arg417His)
c.1232G>A (p.Arg411His)
c.1130G>A (p.Arg377His)
n.1332-363C>T
c.1310G>A (p.Arg437His)
c.1412G>A (p.Arg471His)
c.1352G>A (p.Arg451His)
n.3607-363C>T
n.4043-363C>T
c.1235G>A (p.Arg412His)
c.1253G>A (p.Arg418His)
c.1010G>A (p.Arg337His)
c.1043G>A (p.Arg348His)
c.1061G>A (p.Arg354His)
 dbSNP ExAC gnomAD v2
2g.127428627G>CCA348405693PROCc.1067G>C (p.Arg356Pro)
c.391G>C
c.1169G>C (p.Arg390Pro)
c.1250G>C (p.Arg417Pro)
c.1232G>C (p.Arg411Pro)
c.1130G>C (p.Arg377Pro)
n.1332-363C>G
c.1310G>C (p.Arg437Pro)
c.1412G>C (p.Arg471Pro)
c.1352G>C (p.Arg451Pro)
n.3607-363C>G
n.4043-363C>G
c.1235G>C (p.Arg412Pro)
c.1253G>C (p.Arg418Pro)
c.1010G>C (p.Arg337Pro)
c.1043G>C (p.Arg348Pro)
c.1061G>C (p.Arg354Pro)
2g.127428627G=CA1286884559PROCc.1067G= (p.Arg356=)
c.391G=
c.1169G= (p.Arg390=)
c.1250G= (p.Arg417=)
c.1232G= (p.Arg411=)
c.1130G= (p.Arg377=)
n.1332-363C=
c.1310G= (p.Arg437=)
c.1412G= (p.Arg471=)
c.1352G= (p.Arg451=)
n.3607-363C=
n.4043-363C=
c.1235G= (p.Arg412=)
c.1253G= (p.Arg418=)
c.1010G= (p.Arg337=)
c.1043G= (p.Arg348=)
c.1061G= (p.Arg354=)
2g.127428627G>TCA55351038PROCc.1067G>T (p.Arg356Leu)
c.391G>T
c.1169G>T (p.Arg390Leu)
c.1250G>T (p.Arg417Leu)
c.1232G>T (p.Arg411Leu)
c.1130G>T (p.Arg377Leu)
n.1332-363C>A
c.1310G>T (p.Arg437Leu)
c.1412G>T (p.Arg471Leu)
c.1352G>T (p.Arg451Leu)
n.3607-363C>A
n.4043-363C>A
c.1235G>T (p.Arg412Leu)
c.1253G>T (p.Arg418Leu)
c.1010G>T (p.Arg337Leu)
c.1043G>T (p.Arg348Leu)
c.1061G>T (p.Arg354Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428628C>ACA428872972PROCc.1068C>A (p.Arg356=)
c.392C>A
c.1170C>A (p.Arg390=)
c.1251C>A (p.Arg417=)
c.1233C>A (p.Arg411=)
c.1131C>A (p.Arg377=)
n.1332-364G>T
c.1311C>A (p.Arg437=)
c.1413C>A (p.Arg471=)
c.1353C>A (p.Arg451=)
n.3607-364G>T
n.4043-364G>T
c.1236C>A (p.Arg412=)
c.1254C>A (p.Arg418=)
c.1011C>A (p.Arg337=)
c.1044C>A (p.Arg348=)
c.1062C>A (p.Arg354=)
2g.127428628C=CA1286884560PROCc.1068C= (p.Arg356=)
c.392C=
c.1170C= (p.Arg390=)
c.1251C= (p.Arg417=)
c.1233C= (p.Arg411=)
c.1131C= (p.Arg377=)
n.1332-364G=
c.1311C= (p.Arg437=)
c.1413C= (p.Arg471=)
c.1353C= (p.Arg451=)
n.3607-364G=
n.4043-364G=
c.1236C= (p.Arg412=)
c.1254C= (p.Arg418=)
c.1011C= (p.Arg337=)
c.1044C= (p.Arg348=)
c.1062C= (p.Arg354=)
2g.127428628C>GCA428872974PROCc.1068C>G (p.Arg356=)
c.392C>G
c.1170C>G (p.Arg390=)
c.1251C>G (p.Arg417=)
c.1233C>G (p.Arg411=)
c.1131C>G (p.Arg377=)
n.1332-364G>C
c.1311C>G (p.Arg437=)
c.1413C>G (p.Arg471=)
c.1353C>G (p.Arg451=)
n.3607-364G>C
n.4043-364G>C
c.1236C>G (p.Arg412=)
c.1254C>G (p.Arg418=)
c.1011C>G (p.Arg337=)
c.1044C>G (p.Arg348=)
c.1062C>G (p.Arg354=)
2g.127428628C>TCA428872976PROCc.1068C>T (p.Arg356=)
c.392C>T
c.1170C>T (p.Arg390=)
c.1251C>T (p.Arg417=)
c.1233C>T (p.Arg411=)
c.1131C>T (p.Arg377=)
n.1332-364G>A
c.1311C>T (p.Arg437=)
c.1413C>T (p.Arg471=)
c.1353C>T (p.Arg451=)
n.3607-364G>A
n.4043-364G>A
c.1236C>T (p.Arg412=)
c.1254C>T (p.Arg418=)
c.1011C>T (p.Arg337=)
c.1044C>T (p.Arg348=)
c.1062C>T (p.Arg354=)
 dbSNP
2g.127428629A>CCA348405694PROCc.1069A>C (p.Thr357Pro)
c.393A>C
c.1171A>C (p.Thr391Pro)
c.1252A>C (p.Thr418Pro)
c.1234A>C (p.Thr412Pro)
c.1132A>C (p.Thr378Pro)
n.1332-365T>G
c.1312A>C (p.Thr438Pro)
c.1414A>C (p.Thr472Pro)
c.1354A>C (p.Thr452Pro)
n.3607-365T>G
n.4043-365T>G
c.1237A>C (p.Thr413Pro)
c.1255A>C (p.Thr419Pro)
c.1012A>C (p.Thr338Pro)
c.1045A>C (p.Thr349Pro)
c.1063A>C (p.Thr355Pro)
2g.127428629A>GCA348405695PROCc.1069A>G (p.Thr357Ala)
c.393A>G
c.1171A>G (p.Thr391Ala)
c.1252A>G (p.Thr418Ala)
c.1234A>G (p.Thr412Ala)
c.1132A>G (p.Thr378Ala)
n.1332-365T>C
c.1312A>G (p.Thr438Ala)
c.1414A>G (p.Thr472Ala)
c.1354A>G (p.Thr452Ala)
n.3607-365T>C
n.4043-365T>C
c.1237A>G (p.Thr413Ala)
c.1255A>G (p.Thr419Ala)
c.1012A>G (p.Thr338Ala)
c.1045A>G (p.Thr349Ala)
c.1063A>G (p.Thr355Ala)
2g.127428629A>TCA348405696PROCc.1069A>T (p.Thr357Ser)
c.393A>T
c.1171A>T (p.Thr391Ser)
c.1252A>T (p.Thr418Ser)
c.1234A>T (p.Thr412Ser)
c.1132A>T (p.Thr378Ser)
n.1332-365T>A
c.1312A>T (p.Thr438Ser)
c.1414A>T (p.Thr472Ser)
c.1354A>T (p.Thr452Ser)
n.3607-365T>A
n.4043-365T>A
c.1237A>T (p.Thr413Ser)
c.1255A>T (p.Thr419Ser)
c.1012A>T (p.Thr338Ser)
c.1045A>T (p.Thr349Ser)
c.1063A>T (p.Thr355Ser)
2g.127428630C>ACA348405697PROCc.1070C>A (p.Thr357Asn)
c.394C>A
c.1172C>A (p.Thr391Asn)
c.1253C>A (p.Thr418Asn)
c.1235C>A (p.Thr412Asn)
c.1133C>A (p.Thr378Asn)
n.1332-366G>T
c.1313C>A (p.Thr438Asn)
c.1415C>A (p.Thr472Asn)
c.1355C>A (p.Thr452Asn)
n.3607-366G>T
n.4043-366G>T
c.1238C>A (p.Thr413Asn)
c.1256C>A (p.Thr419Asn)
c.1013C>A (p.Thr338Asn)
c.1046C>A (p.Thr349Asn)
c.1064C>A (p.Thr355Asn)
2g.127428630C>GCA348405698PROCc.1070C>G (p.Thr357Ser)
c.394C>G
c.1172C>G (p.Thr391Ser)
c.1253C>G (p.Thr418Ser)
c.1235C>G (p.Thr412Ser)
c.1133C>G (p.Thr378Ser)
n.1332-366G>C
c.1313C>G (p.Thr438Ser)
c.1415C>G (p.Thr472Ser)
c.1355C>G (p.Thr452Ser)
n.3607-366G>C
n.4043-366G>C
c.1238C>G (p.Thr413Ser)
c.1256C>G (p.Thr419Ser)
c.1013C>G (p.Thr338Ser)
c.1046C>G (p.Thr349Ser)
c.1064C>G (p.Thr355Ser)
2g.127428630C>TCA348405699PROCc.1070C>T (p.Thr357Ile)
c.394C>T
c.1172C>T (p.Thr391Ile)
c.1253C>T (p.Thr418Ile)
c.1235C>T (p.Thr412Ile)
c.1133C>T (p.Thr378Ile)
n.1332-366G>A
c.1313C>T (p.Thr438Ile)
c.1415C>T (p.Thr472Ile)
c.1355C>T (p.Thr452Ile)
n.3607-366G>A
n.4043-366G>A
c.1238C>T (p.Thr413Ile)
c.1256C>T (p.Thr419Ile)
c.1013C>T (p.Thr338Ile)
c.1046C>T (p.Thr349Ile)
c.1064C>T (p.Thr355Ile)
2g.127428631C>ACA428872986PROCc.1071C>A (p.Thr357=)
c.395C>A
c.1173C>A (p.Thr391=)
c.1254C>A (p.Thr418=)
c.1236C>A (p.Thr412=)
c.1134C>A (p.Thr378=)
n.1332-367G>T
c.1314C>A (p.Thr438=)
c.1416C>A (p.Thr472=)
c.1356C>A (p.Thr452=)
n.3607-367G>T
n.4043-367G>T
c.1239C>A (p.Thr413=)
c.1257C>A (p.Thr419=)
c.1014C>A (p.Thr338=)
c.1047C>A (p.Thr349=)
c.1065C>A (p.Thr355=)
2g.127428631C>GCA428872989PROCc.1071C>G (p.Thr357=)
c.395C>G
c.1173C>G (p.Thr391=)
c.1254C>G (p.Thr418=)
c.1236C>G (p.Thr412=)
c.1134C>G (p.Thr378=)
n.1332-367G>C
c.1314C>G (p.Thr438=)
c.1416C>G (p.Thr472=)
c.1356C>G (p.Thr452=)
n.3607-367G>C
n.4043-367G>C
c.1239C>G (p.Thr413=)
c.1257C>G (p.Thr419=)
c.1014C>G (p.Thr338=)
c.1047C>G (p.Thr349=)
c.1065C>G (p.Thr355=)
2g.127428631C>TCA428872991PROCc.1071C>T (p.Thr357=)
c.395C>T
c.1173C>T (p.Thr391=)
c.1254C>T (p.Thr418=)
c.1236C>T (p.Thr412=)
c.1134C>T (p.Thr378=)
n.1332-367G>A
c.1314C>T (p.Thr438=)
c.1416C>T (p.Thr472=)
c.1356C>T (p.Thr452=)
n.3607-367G>A
n.4043-367G>A
c.1239C>T (p.Thr413=)
c.1257C>T (p.Thr419=)
c.1014C>T (p.Thr338=)
c.1047C>T (p.Thr349=)
c.1065C>T (p.Thr355=)

Number of alleles fetched