Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127428462C>ACA348404740PROCc.902C>A (p.Ala301Glu)
c.226C>A
c.1004C>A (p.Ala335Glu)
c.1085C>A (p.Ala362Glu)
c.1067C>A (p.Ala356Glu)
c.965C>A (p.Ala322Glu)
n.1332-198G>T
c.1145C>A (p.Ala382Glu)
c.1247C>A (p.Ala416Glu)
c.1187C>A (p.Ala396Glu)
n.3607-198G>T
n.4043-198G>T
c.1070C>A (p.Ala357Glu)
c.1088C>A (p.Ala363Glu)
c.845C>A (p.Ala282Glu)
c.878C>A (p.Ala293Glu)
c.896C>A (p.Ala299Glu)
2g.127428462C=CA1286884484PROCc.902C= (p.Ala301=)
c.226C=
c.1004C= (p.Ala335=)
c.1085C= (p.Ala362=)
c.1067C= (p.Ala356=)
c.965C= (p.Ala322=)
n.1332-198G=
c.1145C= (p.Ala382=)
c.1247C= (p.Ala416=)
c.1187C= (p.Ala396=)
n.3607-198G=
n.4043-198G=
c.1070C= (p.Ala357=)
c.1088C= (p.Ala363=)
c.845C= (p.Ala282=)
c.878C= (p.Ala293=)
c.896C= (p.Ala299=)
2g.127428462C>GCA348404742PROCc.902C>G (p.Ala301Gly)
c.226C>G
c.1004C>G (p.Ala335Gly)
c.1085C>G (p.Ala362Gly)
c.1067C>G (p.Ala356Gly)
c.965C>G (p.Ala322Gly)
n.1332-198G>C
c.1145C>G (p.Ala382Gly)
c.1247C>G (p.Ala416Gly)
c.1187C>G (p.Ala396Gly)
n.3607-198G>C
n.4043-198G>C
c.1070C>G (p.Ala357Gly)
c.1088C>G (p.Ala363Gly)
c.845C>G (p.Ala282Gly)
c.878C>G (p.Ala293Gly)
c.896C>G (p.Ala299Gly)
2g.127428462C>TCA114391PROCc.902C>T (p.Ala301Val)
c.226C>T
c.1004C>T (p.Ala335Val)
c.1085C>T (p.Ala362Val)
c.1067C>T (p.Ala356Val)
c.965C>T (p.Ala322Val)
n.1332-198G>A
c.1145C>T (p.Ala382Val)
c.1247C>T (p.Ala416Val)
c.1187C>T (p.Ala396Val)
n.3607-198G>A
n.4043-198G>A
c.1070C>T (p.Ala357Val)
c.1088C>T (p.Ala363Val)
c.845C>T (p.Ala282Val)
c.878C>T (p.Ala293Val)
c.896C>T (p.Ala299Val)
 ClinVar dbSNP gnomAD v4
2g.127428463A=CA1286884485PROCc.903A= (p.Ala301=)
c.227A=
c.1005A= (p.Ala335=)
c.1086A= (p.Ala362=)
c.1068A= (p.Ala356=)
c.966A= (p.Ala322=)
n.1332-199T=
c.1146A= (p.Ala382=)
c.1248A= (p.Ala416=)
c.1188A= (p.Ala396=)
n.3607-199T=
n.4043-199T=
c.1071A= (p.Ala357=)
c.1089A= (p.Ala363=)
c.846A= (p.Ala282=)
c.879A= (p.Ala293=)
c.897A= (p.Ala299=)
2g.127428463A>CCA1859485PROCc.903A>C (p.Ala301=)
c.227A>C
c.1005A>C (p.Ala335=)
c.1086A>C (p.Ala362=)
c.1068A>C (p.Ala356=)
c.966A>C (p.Ala322=)
n.1332-199T>G
c.1146A>C (p.Ala382=)
c.1248A>C (p.Ala416=)
c.1188A>C (p.Ala396=)
n.3607-199T>G
n.4043-199T>G
c.1071A>C (p.Ala357=)
c.1089A>C (p.Ala363=)
c.846A>C (p.Ala282=)
c.879A>C (p.Ala293=)
c.897A>C (p.Ala299=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428463A>GCA428618908PROCc.903A>G (p.Ala301=)
c.227A>G
c.1005A>G (p.Ala335=)
c.1086A>G (p.Ala362=)
c.1068A>G (p.Ala356=)
c.966A>G (p.Ala322=)
n.1332-199T>C
c.1146A>G (p.Ala382=)
c.1248A>G (p.Ala416=)
c.1188A>G (p.Ala396=)
n.3607-199T>C
n.4043-199T>C
c.1071A>G (p.Ala357=)
c.1089A>G (p.Ala363=)
c.846A>G (p.Ala282=)
c.879A>G (p.Ala293=)
c.897A>G (p.Ala299=)
2g.127428463A>TCA428618909PROCc.903A>T (p.Ala301=)
c.227A>T
c.1005A>T (p.Ala335=)
c.1086A>T (p.Ala362=)
c.1068A>T (p.Ala356=)
c.966A>T (p.Ala322=)
n.1332-199T>A
c.1146A>T (p.Ala382=)
c.1248A>T (p.Ala416=)
c.1188A>T (p.Ala396=)
n.3607-199T>A
n.4043-199T>A
c.1071A>T (p.Ala357=)
c.1089A>T (p.Ala363=)
c.846A>T (p.Ala282=)
c.879A>T (p.Ala293=)
c.897A>T (p.Ala299=)
2g.127428464C>ACA348404747PROCc.904C>A (p.Leu302Met)
c.228C>A
c.1006C>A (p.Leu336Met)
c.1087C>A (p.Leu363Met)
c.1069C>A (p.Leu357Met)
c.967C>A (p.Leu323Met)
n.1332-200G>T
c.1147C>A (p.Leu383Met)
c.1249C>A (p.Leu417Met)
c.1189C>A (p.Leu397Met)
n.3607-200G>T
n.4043-200G>T
c.1072C>A (p.Leu358Met)
c.1090C>A (p.Leu364Met)
c.847C>A (p.Leu283Met)
c.880C>A (p.Leu294Met)
c.898C>A (p.Leu300Met)
2g.127428464C>GCA348404751PROCc.904C>G (p.Leu302Val)
c.228C>G
c.1006C>G (p.Leu336Val)
c.1087C>G (p.Leu363Val)
c.1069C>G (p.Leu357Val)
c.967C>G (p.Leu323Val)
n.1332-200G>C
c.1147C>G (p.Leu383Val)
c.1249C>G (p.Leu417Val)
c.1189C>G (p.Leu397Val)
n.3607-200G>C
n.4043-200G>C
c.1072C>G (p.Leu358Val)
c.1090C>G (p.Leu364Val)
c.847C>G (p.Leu283Val)
c.880C>G (p.Leu294Val)
c.898C>G (p.Leu300Val)
2g.127428464C>TCA428618910PROCc.904C>T (p.Leu302=)
c.228C>T
c.1006C>T (p.Leu336=)
c.1087C>T (p.Leu363=)
c.1069C>T (p.Leu357=)
c.967C>T (p.Leu323=)
n.1332-200G>A
c.1147C>T (p.Leu383=)
c.1249C>T (p.Leu417=)
c.1189C>T (p.Leu397=)
n.3607-200G>A
n.4043-200G>A
c.1072C>T (p.Leu358=)
c.1090C>T (p.Leu364=)
c.847C>T (p.Leu283=)
c.880C>T (p.Leu294=)
c.898C>T (p.Leu300=)
2g.127428465T>ACA348404753PROCc.905T>A (p.Leu302Gln)
c.229T>A
c.1007T>A (p.Leu336Gln)
c.1088T>A (p.Leu363Gln)
c.1070T>A (p.Leu357Gln)
c.968T>A (p.Leu323Gln)
n.1332-201A>T
c.1148T>A (p.Leu383Gln)
c.1250T>A (p.Leu417Gln)
c.1190T>A (p.Leu397Gln)
n.3607-201A>T
n.4043-201A>T
c.1073T>A (p.Leu358Gln)
c.1091T>A (p.Leu364Gln)
c.848T>A (p.Leu283Gln)
c.881T>A (p.Leu294Gln)
c.899T>A (p.Leu300Gln)
2g.127428465T>CCA348404757PROCc.905T>C (p.Leu302Pro)
c.229T>C
c.1007T>C (p.Leu336Pro)
c.1088T>C (p.Leu363Pro)
c.1070T>C (p.Leu357Pro)
c.968T>C (p.Leu323Pro)
n.1332-201A>G
c.1148T>C (p.Leu383Pro)
c.1250T>C (p.Leu417Pro)
c.1190T>C (p.Leu397Pro)
n.3607-201A>G
n.4043-201A>G
c.1073T>C (p.Leu358Pro)
c.1091T>C (p.Leu364Pro)
c.848T>C (p.Leu283Pro)
c.881T>C (p.Leu294Pro)
c.899T>C (p.Leu300Pro)
2g.127428465T>GCA348404759PROCc.905T>G (p.Leu302Arg)
c.229T>G
c.1007T>G (p.Leu336Arg)
c.1088T>G (p.Leu363Arg)
c.1070T>G (p.Leu357Arg)
c.968T>G (p.Leu323Arg)
n.1332-201A>C
c.1148T>G (p.Leu383Arg)
c.1250T>G (p.Leu417Arg)
c.1190T>G (p.Leu397Arg)
n.3607-201A>C
n.4043-201A>C
c.1073T>G (p.Leu358Arg)
c.1091T>G (p.Leu364Arg)
c.848T>G (p.Leu283Arg)
c.881T>G (p.Leu294Arg)
c.899T>G (p.Leu300Arg)
2g.127428466G>ACA428618911PROCc.906G>A (p.Leu302=)
c.230G>A
c.1008G>A (p.Leu336=)
c.1089G>A (p.Leu363=)
c.1071G>A (p.Leu357=)
c.969G>A (p.Leu323=)
n.1332-202C>T
c.1149G>A (p.Leu383=)
c.1251G>A (p.Leu417=)
c.1191G>A (p.Leu397=)
n.3607-202C>T
n.4043-202C>T
c.1074G>A (p.Leu358=)
c.1092G>A (p.Leu364=)
c.849G>A (p.Leu283=)
c.882G>A (p.Leu294=)
c.900G>A (p.Leu300=)
2g.127428466G>CCA428618912PROCc.906G>C (p.Leu302=)
c.230G>C
c.1008G>C (p.Leu336=)
c.1089G>C (p.Leu363=)
c.1071G>C (p.Leu357=)
c.969G>C (p.Leu323=)
n.1332-202C>G
c.1149G>C (p.Leu383=)
c.1251G>C (p.Leu417=)
c.1191G>C (p.Leu397=)
n.3607-202C>G
n.4043-202C>G
c.1074G>C (p.Leu358=)
c.1092G>C (p.Leu364=)
c.849G>C (p.Leu283=)
c.882G>C (p.Leu294=)
c.900G>C (p.Leu300=)
2g.127428466G>TCA428618913PROCc.906G>T (p.Leu302=)
c.230G>T
c.1008G>T (p.Leu336=)
c.1089G>T (p.Leu363=)
c.1071G>T (p.Leu357=)
c.969G>T (p.Leu323=)
n.1332-202C>A
c.1149G>T (p.Leu383=)
c.1251G>T (p.Leu417=)
c.1191G>T (p.Leu397=)
n.3607-202C>A
n.4043-202C>A
c.1074G>T (p.Leu358=)
c.1092G>T (p.Leu364=)
c.849G>T (p.Leu283=)
c.882G>T (p.Leu294=)
c.900G>T (p.Leu300=)
2g.127428467C>ACA348404763PROCc.907C>A (p.Leu303Met)
c.231C>A
c.1009C>A (p.Leu337Met)
c.1090C>A (p.Leu364Met)
c.1072C>A (p.Leu358Met)
c.970C>A (p.Leu324Met)
n.1332-203G>T
c.1150C>A (p.Leu384Met)
c.1252C>A (p.Leu418Met)
c.1192C>A (p.Leu398Met)
n.3607-203G>T
n.4043-203G>T
c.1075C>A (p.Leu359Met)
c.1093C>A (p.Leu365Met)
c.850C>A (p.Leu284Met)
c.883C>A (p.Leu295Met)
c.901C>A (p.Leu301Met)
2g.127428467C>GCA348404766PROCc.907C>G (p.Leu303Val)
c.231C>G
c.1009C>G (p.Leu337Val)
c.1090C>G (p.Leu364Val)
c.1072C>G (p.Leu358Val)
c.970C>G (p.Leu324Val)
n.1332-203G>C
c.1150C>G (p.Leu384Val)
c.1252C>G (p.Leu418Val)
c.1192C>G (p.Leu398Val)
n.3607-203G>C
n.4043-203G>C
c.1075C>G (p.Leu359Val)
c.1093C>G (p.Leu365Val)
c.850C>G (p.Leu284Val)
c.883C>G (p.Leu295Val)
c.901C>G (p.Leu301Val)
2g.127428467C>TCA428618914PROCc.907C>T (p.Leu303=)
c.231C>T
c.1009C>T (p.Leu337=)
c.1090C>T (p.Leu364=)
c.1072C>T (p.Leu358=)
c.970C>T (p.Leu324=)
n.1332-203G>A
c.1150C>T (p.Leu384=)
c.1252C>T (p.Leu418=)
c.1192C>T (p.Leu398=)
n.3607-203G>A
n.4043-203G>A
c.1075C>T (p.Leu359=)
c.1093C>T (p.Leu365=)
c.850C>T (p.Leu284=)
c.883C>T (p.Leu295=)
c.901C>T (p.Leu301=)
2g.127428467_127428468delCA2580063829PROCc.907_908del (p.Leu303AlafsTer?)
c.231_232del
c.1009_1010del (p.Leu337AlafsTer?)
c.1090_1091del (p.Leu364AlafsTer?)
c.1072_1073del (p.Leu358AlafsTer?)
c.970_971del (p.Leu324AlafsTer?)
n.1332-204_1332-203del
c.1150_1151del (p.Leu384AlafsTer?)
c.1252_1253del (p.Leu418AlafsTer?)
c.1192_1193del (p.Leu398AlafsTer?)
n.3607-204_3607-203del
n.4043-204_4043-203del
c.1075_1076del (p.Leu359AlafsTer?)
c.1093_1094del (p.Leu365AlafsTer?)
c.850_851del (p.Leu284AlafsTer?)
c.883_884del (p.Leu295AlafsTer?)
c.901_902del (p.Leu301AlafsTer?)
 ClinVar gnomAD v4
2g.127428468T>ACA348404768PROCc.908T>A (p.Leu303Gln)
c.232T>A
c.1010T>A (p.Leu337Gln)
c.1091T>A (p.Leu364Gln)
c.1073T>A (p.Leu358Gln)
c.971T>A (p.Leu324Gln)
n.1332-204A>T
c.1151T>A (p.Leu384Gln)
c.1253T>A (p.Leu418Gln)
c.1193T>A (p.Leu398Gln)
n.3607-204A>T
n.4043-204A>T
c.1076T>A (p.Leu359Gln)
c.1094T>A (p.Leu365Gln)
c.851T>A (p.Leu284Gln)
c.884T>A (p.Leu295Gln)
c.902T>A (p.Leu301Gln)
2g.127428468T>CCA348404771PROCc.908T>C (p.Leu303Pro)
c.232T>C
c.1010T>C (p.Leu337Pro)
c.1091T>C (p.Leu364Pro)
c.1073T>C (p.Leu358Pro)
c.971T>C (p.Leu324Pro)
n.1332-204A>G
c.1151T>C (p.Leu384Pro)
c.1253T>C (p.Leu418Pro)
c.1193T>C (p.Leu398Pro)
n.3607-204A>G
n.4043-204A>G
c.1076T>C (p.Leu359Pro)
c.1094T>C (p.Leu365Pro)
c.851T>C (p.Leu284Pro)
c.884T>C (p.Leu295Pro)
c.902T>C (p.Leu301Pro)
 gnomAD v4
2g.127428468T>GCA348404774PROCc.908T>G (p.Leu303Arg)
c.232T>G
c.1010T>G (p.Leu337Arg)
c.1091T>G (p.Leu364Arg)
c.1073T>G (p.Leu358Arg)
c.971T>G (p.Leu324Arg)
n.1332-204A>C
c.1151T>G (p.Leu384Arg)
c.1253T>G (p.Leu418Arg)
c.1193T>G (p.Leu398Arg)
n.3607-204A>C
n.4043-204A>C
c.1076T>G (p.Leu359Arg)
c.1094T>G (p.Leu365Arg)
c.851T>G (p.Leu284Arg)
c.884T>G (p.Leu295Arg)
c.902T>G (p.Leu301Arg)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.127428468T=CA1286884486PROCc.908T= (p.Leu303=)
c.232T=
c.1010T= (p.Leu337=)
c.1091T= (p.Leu364=)
c.1073T= (p.Leu358=)
c.971T= (p.Leu324=)
n.1332-204A=
c.1151T= (p.Leu384=)
c.1253T= (p.Leu418=)
c.1193T= (p.Leu398=)
n.3607-204A=
n.4043-204A=
c.1076T= (p.Leu359=)
c.1094T= (p.Leu365=)
c.851T= (p.Leu284=)
c.884T= (p.Leu295=)
c.902T= (p.Leu301=)
2g.127428469G>ACA428618915PROCc.909G>A (p.Leu303=)
c.233G>A
c.1011G>A (p.Leu337=)
c.1092G>A (p.Leu364=)
c.1074G>A (p.Leu358=)
c.972G>A (p.Leu324=)
n.1332-205C>T
c.1152G>A (p.Leu384=)
c.1254G>A (p.Leu418=)
c.1194G>A (p.Leu398=)
n.3607-205C>T
n.4043-205C>T
c.1077G>A (p.Leu359=)
c.1095G>A (p.Leu365=)
c.852G>A (p.Leu284=)
c.885G>A (p.Leu295=)
c.903G>A (p.Leu301=)
2g.127428469G>CCA428618916PROCc.909G>C (p.Leu303=)
c.233G>C
c.1011G>C (p.Leu337=)
c.1092G>C (p.Leu364=)
c.1074G>C (p.Leu358=)
c.972G>C (p.Leu324=)
n.1332-205C>G
c.1152G>C (p.Leu384=)
c.1254G>C (p.Leu418=)
c.1194G>C (p.Leu398=)
n.3607-205C>G
n.4043-205C>G
c.1077G>C (p.Leu359=)
c.1095G>C (p.Leu365=)
c.852G>C (p.Leu284=)
c.885G>C (p.Leu295=)
c.903G>C (p.Leu301=)
2g.127428469G>TCA428618917PROCc.909G>T (p.Leu303=)
c.233G>T
c.1011G>T (p.Leu337=)
c.1092G>T (p.Leu364=)
c.1074G>T (p.Leu358=)
c.972G>T (p.Leu324=)
n.1332-205C>A
c.1152G>T (p.Leu384=)
c.1254G>T (p.Leu418=)
c.1194G>T (p.Leu398=)
n.3607-205C>A
n.4043-205C>A
c.1077G>T (p.Leu359=)
c.1095G>T (p.Leu365=)
c.852G>T (p.Leu284=)
c.885G>T (p.Leu295=)
c.903G>T (p.Leu301=)
 gnomAD v4
2g.127428469_127428470delinsGCCA1286884487PROCc.909_910delinsGC (p.Leu303=)
c.233_234delinsGC
c.1011_1012delinsGC (p.Leu337=)
c.1092_1093delinsGC (p.Leu364=)
c.1074_1075delinsGC (p.Leu358=)
c.972_973delinsGC (p.Leu324=)
n.1332-206_1332-205delinsGC
c.1152_1153delinsGC (p.Leu384=)
c.1254_1255delinsGC (p.Leu418=)
c.1194_1195delinsGC (p.Leu398=)
n.3607-206_3607-205delinsGC
n.4043-206_4043-205delinsGC
c.1077_1078delinsGC (p.Leu359=)
c.1095_1096delinsGC (p.Leu365=)
c.852_853delinsGC (p.Leu284=)
c.885_886delinsGC (p.Leu295=)
c.903_904delinsGC (p.Leu301=)
2g.127428470delCA535640693PROCc.910del (p.His304ThrfsTer12)
c.234del
c.1012del (p.His338ThrfsTer12)
c.1093del (p.His365ThrfsTer12)
c.1075del (p.His359ThrfsTer12)
c.973del (p.His325ThrfsTer12)
n.1332-206del
c.1153del (p.His385ThrfsTer12)
c.1255del (p.His419ThrfsTer12)
c.1195del (p.His399ThrfsTer12)
n.3607-206del
n.4043-206del
c.1078del (p.His360ThrfsTer12)
c.1096del (p.His366ThrfsTer12)
c.853del (p.His285ThrfsTer12)
c.886del (p.His296ThrfsTer12)
c.904del (p.His302ThrfsTer12)
 dbSNP gnomAD v2 gnomAD v4
2g.127428470C>ACA348404777PROCc.910C>A (p.His304Asn)
c.234C>A
c.1012C>A (p.His338Asn)
c.1093C>A (p.His365Asn)
c.1075C>A (p.His359Asn)
c.973C>A (p.His325Asn)
n.1332-206G>T
c.1153C>A (p.His385Asn)
c.1255C>A (p.His419Asn)
c.1195C>A (p.His399Asn)
n.3607-206G>T
n.4043-206G>T
c.1078C>A (p.His360Asn)
c.1096C>A (p.His366Asn)
c.853C>A (p.His285Asn)
c.886C>A (p.His296Asn)
c.904C>A (p.His302Asn)
2g.127428470C=CA1286884488PROCc.910C= (p.His304=)
c.234C=
c.1012C= (p.His338=)
c.1093C= (p.His365=)
c.1075C= (p.His359=)
c.973C= (p.His325=)
n.1332-206G=
c.1153C= (p.His385=)
c.1255C= (p.His419=)
c.1195C= (p.His399=)
n.3607-206G=
n.4043-206G=
c.1078C= (p.His360=)
c.1096C= (p.His366=)
c.853C= (p.His285=)
c.886C= (p.His296=)
c.904C= (p.His302=)
2g.127428470C>GCA348404783PROCc.910C>G (p.His304Asp)
c.234C>G
c.1012C>G (p.His338Asp)
c.1093C>G (p.His365Asp)
c.1075C>G (p.His359Asp)
c.973C>G (p.His325Asp)
n.1332-206G>C
c.1153C>G (p.His385Asp)
c.1255C>G (p.His419Asp)
c.1195C>G (p.His399Asp)
n.3607-206G>C
n.4043-206G>C
c.1078C>G (p.His360Asp)
c.1096C>G (p.His366Asp)
c.853C>G (p.His285Asp)
c.886C>G (p.His296Asp)
c.904C>G (p.His302Asp)
2g.127428470C>TCA1859486PROCc.910C>T (p.His304Tyr)
c.234C>T
c.1012C>T (p.His338Tyr)
c.1093C>T (p.His365Tyr)
c.1075C>T (p.His359Tyr)
c.973C>T (p.His325Tyr)
n.1332-206G>A
c.1153C>T (p.His385Tyr)
c.1255C>T (p.His419Tyr)
c.1195C>T (p.His399Tyr)
n.3607-206G>A
n.4043-206G>A
c.1078C>T (p.His360Tyr)
c.1096C>T (p.His366Tyr)
c.853C>T (p.His285Tyr)
c.886C>T (p.His296Tyr)
c.904C>T (p.His302Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428471A=CA1286884489PROCc.911A= (p.His304=)
c.235A=
c.1013A= (p.His338=)
c.1094A= (p.His365=)
c.1076A= (p.His359=)
c.974A= (p.His325=)
n.1332-207T=
c.1154A= (p.His385=)
c.1256A= (p.His419=)
c.1196A= (p.His399=)
n.3607-207T=
n.4043-207T=
c.1079A= (p.His360=)
c.1097A= (p.His366=)
c.854A= (p.His285=)
c.887A= (p.His296=)
c.905A= (p.His302=)
2g.127428471A>CCA348404789PROCc.911A>C (p.His304Pro)
c.235A>C
c.1013A>C (p.His338Pro)
c.1094A>C (p.His365Pro)
c.1076A>C (p.His359Pro)
c.974A>C (p.His325Pro)
n.1332-207T>G
c.1154A>C (p.His385Pro)
c.1256A>C (p.His419Pro)
c.1196A>C (p.His399Pro)
n.3607-207T>G
n.4043-207T>G
c.1079A>C (p.His360Pro)
c.1097A>C (p.His366Pro)
c.854A>C (p.His285Pro)
c.887A>C (p.His296Pro)
c.905A>C (p.His302Pro)
 dbSNP
2g.127428471A>GCA348404792PROCc.911A>G (p.His304Arg)
c.235A>G
c.1013A>G (p.His338Arg)
c.1094A>G (p.His365Arg)
c.1076A>G (p.His359Arg)
c.974A>G (p.His325Arg)
n.1332-207T>C
c.1154A>G (p.His385Arg)
c.1256A>G (p.His419Arg)
c.1196A>G (p.His399Arg)
n.3607-207T>C
n.4043-207T>C
c.1079A>G (p.His360Arg)
c.1097A>G (p.His366Arg)
c.854A>G (p.His285Arg)
c.887A>G (p.His296Arg)
c.905A>G (p.His302Arg)
2g.127428471A>TCA348404794PROCc.911A>T (p.His304Leu)
c.235A>T
c.1013A>T (p.His338Leu)
c.1094A>T (p.His365Leu)
c.1076A>T (p.His359Leu)
c.974A>T (p.His325Leu)
n.1332-207T>A
c.1154A>T (p.His385Leu)
c.1256A>T (p.His419Leu)
c.1196A>T (p.His399Leu)
n.3607-207T>A
n.4043-207T>A
c.1079A>T (p.His360Leu)
c.1097A>T (p.His366Leu)
c.854A>T (p.His285Leu)
c.887A>T (p.His296Leu)
c.905A>T (p.His302Leu)
2g.127428472C>ACA348404797PROCc.912C>A (p.His304Gln)
c.236C>A
c.1014C>A (p.His338Gln)
c.1095C>A (p.His365Gln)
c.1077C>A (p.His359Gln)
c.975C>A (p.His325Gln)
n.1332-208G>T
c.1155C>A (p.His385Gln)
c.1257C>A (p.His419Gln)
c.1197C>A (p.His399Gln)
n.3607-208G>T
n.4043-208G>T
c.1080C>A (p.His360Gln)
c.1098C>A (p.His366Gln)
c.855C>A (p.His285Gln)
c.888C>A (p.His296Gln)
c.906C>A (p.His302Gln)
2g.127428472C>GCA348404800PROCc.912C>G (p.His304Gln)
c.236C>G
c.1014C>G (p.His338Gln)
c.1095C>G (p.His365Gln)
c.1077C>G (p.His359Gln)
c.975C>G (p.His325Gln)
n.1332-208G>C
c.1155C>G (p.His385Gln)
c.1257C>G (p.His419Gln)
c.1197C>G (p.His399Gln)
n.3607-208G>C
n.4043-208G>C
c.1080C>G (p.His360Gln)
c.1098C>G (p.His366Gln)
c.855C>G (p.His285Gln)
c.888C>G (p.His296Gln)
c.906C>G (p.His302Gln)
2g.127428472C>TCA428618918PROCc.912C>T (p.His304=)
c.236C>T
c.1014C>T (p.His338=)
c.1095C>T (p.His365=)
c.1077C>T (p.His359=)
c.975C>T (p.His325=)
n.1332-208G>A
c.1155C>T (p.His385=)
c.1257C>T (p.His419=)
c.1197C>T (p.His399=)
n.3607-208G>A
n.4043-208G>A
c.1080C>T (p.His360=)
c.1098C>T (p.His366=)
c.855C>T (p.His285=)
c.888C>T (p.His296=)
c.906C>T (p.His302=)
2g.127428473C>ACA348404803PROCc.913C>A (p.Leu305Met)
c.237C>A
c.1015C>A (p.Leu339Met)
c.1096C>A (p.Leu366Met)
c.1078C>A (p.Leu360Met)
c.976C>A (p.Leu326Met)
n.1332-209G>T
c.1156C>A (p.Leu386Met)
c.1258C>A (p.Leu420Met)
c.1198C>A (p.Leu400Met)
n.3607-209G>T
n.4043-209G>T
c.1081C>A (p.Leu361Met)
c.1099C>A (p.Leu367Met)
c.856C>A (p.Leu286Met)
c.889C>A (p.Leu297Met)
c.907C>A (p.Leu303Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428473C=CA1286884491PROCc.913C= (p.Leu305=)
c.237C=
c.1015C= (p.Leu339=)
c.1096C= (p.Leu366=)
c.1078C= (p.Leu360=)
c.976C= (p.Leu326=)
n.1332-209G=
c.1156C= (p.Leu386=)
c.1258C= (p.Leu420=)
c.1198C= (p.Leu400=)
n.3607-209G=
n.4043-209G=
c.1081C= (p.Leu361=)
c.1099C= (p.Leu367=)
c.856C= (p.Leu286=)
c.889C= (p.Leu297=)
c.907C= (p.Leu303=)
2g.127428473C>GCA348404806PROCc.913C>G (p.Leu305Val)
c.237C>G
c.1015C>G (p.Leu339Val)
c.1096C>G (p.Leu366Val)
c.1078C>G (p.Leu360Val)
c.976C>G (p.Leu326Val)
n.1332-209G>C
c.1156C>G (p.Leu386Val)
c.1258C>G (p.Leu420Val)
c.1198C>G (p.Leu400Val)
n.3607-209G>C
n.4043-209G>C
c.1081C>G (p.Leu361Val)
c.1099C>G (p.Leu367Val)
c.856C>G (p.Leu286Val)
c.889C>G (p.Leu297Val)
c.907C>G (p.Leu303Val)
2g.127428473C>TCA428618919PROCc.913C>T (p.Leu305=)
c.237C>T
c.1015C>T (p.Leu339=)
c.1096C>T (p.Leu366=)
c.1078C>T (p.Leu360=)
c.976C>T (p.Leu326=)
n.1332-209G>A
c.1156C>T (p.Leu386=)
c.1258C>T (p.Leu420=)
c.1198C>T (p.Leu400=)
n.3607-209G>A
n.4043-209G>A
c.1081C>T (p.Leu361=)
c.1099C>T (p.Leu367=)
c.856C>T (p.Leu286=)
c.889C>T (p.Leu297=)
c.907C>T (p.Leu303=)
 gnomAD v4
2g.127428473_127428474delinsCTCA1286884490PROCc.913_914delinsCT (p.Leu305=)
c.237_238delinsCT
c.1015_1016delinsCT (p.Leu339=)
c.1096_1097delinsCT (p.Leu366=)
c.1078_1079delinsCT (p.Leu360=)
c.976_977delinsCT (p.Leu326=)
n.1332-210_1332-209delinsAG
c.1156_1157delinsCT (p.Leu386=)
c.1258_1259delinsCT (p.Leu420=)
c.1198_1199delinsCT (p.Leu400=)
n.3607-210_3607-209delinsAG
n.4043-210_4043-209delinsAG
c.1081_1082delinsCT (p.Leu361=)
c.1099_1100delinsCT (p.Leu367=)
c.856_857delinsCT (p.Leu286=)
c.889_890delinsCT (p.Leu297=)
c.907_908delinsCT (p.Leu303=)
2g.127428474_127428477dupCA2586969910PROCc.914_917dup (p.Gln307GlyfsTer?)
c.238_241dup
c.1016_1019dup (p.Gln341GlyfsTer?)
c.1097_1100dup (p.Gln368GlyfsTer?)
c.1079_1082dup (p.Gln362GlyfsTer?)
c.977_980dup (p.Gln328GlyfsTer?)
n.1332-212_1332-209dup
c.1157_1160dup (p.Gln388GlyfsTer?)
c.1259_1262dup (p.Gln422GlyfsTer?)
c.1199_1202dup (p.Gln402GlyfsTer?)
n.3607-212_3607-209dup
n.4043-212_4043-209dup
c.1082_1085dup (p.Gln363GlyfsTer?)
c.1100_1103dup (p.Gln369GlyfsTer?)
c.857_860dup (p.Gln288GlyfsTer?)
c.890_893dup (p.Gln299GlyfsTer?)
c.908_911dup (p.Gln305GlyfsTer?)
2g.127428474delCA55350734PROCc.914del (p.Leu305ArgfsTer11)
c.238del
c.1016del (p.Leu339ArgfsTer11)
c.1097del (p.Leu366ArgfsTer11)
c.1079del (p.Leu360ArgfsTer11)
c.977del (p.Leu326ArgfsTer11)
n.1332-210del
c.1157del (p.Leu386ArgfsTer11)
c.1259del (p.Leu420ArgfsTer11)
c.1199del (p.Leu400ArgfsTer11)
n.3607-210del
n.4043-210del
c.1082del (p.Leu361ArgfsTer11)
c.1100del (p.Leu367ArgfsTer11)
c.857del (p.Leu286ArgfsTer11)
c.890del (p.Leu297ArgfsTer11)
c.908del (p.Leu303ArgfsTer11)
 dbSNP
2g.127428474T>ACA348404816PROCc.914T>A (p.Leu305Gln)
c.238T>A
c.1016T>A (p.Leu339Gln)
c.1097T>A (p.Leu366Gln)
c.1079T>A (p.Leu360Gln)
c.977T>A (p.Leu326Gln)
n.1332-210A>T
c.1157T>A (p.Leu386Gln)
c.1259T>A (p.Leu420Gln)
c.1199T>A (p.Leu400Gln)
n.3607-210A>T
n.4043-210A>T
c.1082T>A (p.Leu361Gln)
c.1100T>A (p.Leu367Gln)
c.857T>A (p.Leu286Gln)
c.890T>A (p.Leu297Gln)
c.908T>A (p.Leu303Gln)
2g.127428474T>CCA348404810PROCc.914T>C (p.Leu305Pro)
c.238T>C
c.1016T>C (p.Leu339Pro)
c.1097T>C (p.Leu366Pro)
c.1079T>C (p.Leu360Pro)
c.977T>C (p.Leu326Pro)
n.1332-210A>G
c.1157T>C (p.Leu386Pro)
c.1259T>C (p.Leu420Pro)
c.1199T>C (p.Leu400Pro)
n.3607-210A>G
n.4043-210A>G
c.1082T>C (p.Leu361Pro)
c.1100T>C (p.Leu367Pro)
c.857T>C (p.Leu286Pro)
c.890T>C (p.Leu297Pro)
c.908T>C (p.Leu303Pro)
2g.127428474T>GCA348404813PROCc.914T>G (p.Leu305Arg)
c.238T>G
c.1016T>G (p.Leu339Arg)
c.1097T>G (p.Leu366Arg)
c.1079T>G (p.Leu360Arg)
c.977T>G (p.Leu326Arg)
n.1332-210A>C
c.1157T>G (p.Leu386Arg)
c.1259T>G (p.Leu420Arg)
c.1199T>G (p.Leu400Arg)
n.3607-210A>C
n.4043-210A>C
c.1082T>G (p.Leu361Arg)
c.1100T>G (p.Leu367Arg)
c.857T>G (p.Leu286Arg)
c.890T>G (p.Leu297Arg)
c.908T>G (p.Leu303Arg)
 dbSNP
2g.127428474T=CA1286884492PROCc.914T= (p.Leu305=)
c.238T=
c.1016T= (p.Leu339=)
c.1097T= (p.Leu366=)
c.1079T= (p.Leu360=)
c.977T= (p.Leu326=)
n.1332-210A=
c.1157T= (p.Leu386=)
c.1259T= (p.Leu420=)
c.1199T= (p.Leu400=)
n.3607-210A=
n.4043-210A=
c.1082T= (p.Leu361=)
c.1100T= (p.Leu367=)
c.857T= (p.Leu286=)
c.890T= (p.Leu297=)
c.908T= (p.Leu303=)
2g.127428474_127428476dupCA2586969911PROCc.914_916dup (p.Leu305_Ala306insVal)
c.238_240dup
c.1016_1018dup (p.Leu339_Ala340insVal)
c.1097_1099dup (p.Leu366_Ala367insVal)
c.1079_1081dup (p.Leu360_Ala361insVal)
c.977_979dup (p.Leu326_Ala327insVal)
n.1332-212_1332-210dup
c.1157_1159dup (p.Leu386_Ala387insVal)
c.1259_1261dup (p.Leu420_Ala421insVal)
c.1199_1201dup (p.Leu400_Ala401insVal)
n.3607-212_3607-210dup
n.4043-212_4043-210dup
c.1082_1084dup (p.Leu361_Ala362insVal)
c.1100_1102dup (p.Leu367_Ala368insVal)
c.857_859dup (p.Leu286_Ala287insVal)
c.890_892dup (p.Leu297_Ala298insVal)
c.908_910dup (p.Leu303_Ala304insVal)
2g.127428475G>ACA428618920PROCc.915G>A (p.Leu305=)
c.239G>A
c.1017G>A (p.Leu339=)
c.1098G>A (p.Leu366=)
c.1080G>A (p.Leu360=)
c.978G>A (p.Leu326=)
n.1332-211C>T
c.1158G>A (p.Leu386=)
c.1260G>A (p.Leu420=)
c.1200G>A (p.Leu400=)
n.3607-211C>T
n.4043-211C>T
c.1083G>A (p.Leu361=)
c.1101G>A (p.Leu367=)
c.858G>A (p.Leu286=)
c.891G>A (p.Leu297=)
c.909G>A (p.Leu303=)
 gnomAD v4
2g.127428475G>CCA428618921PROCc.915G>C (p.Leu305=)
c.239G>C
c.1017G>C (p.Leu339=)
c.1098G>C (p.Leu366=)
c.1080G>C (p.Leu360=)
c.978G>C (p.Leu326=)
n.1332-211C>G
c.1158G>C (p.Leu386=)
c.1260G>C (p.Leu420=)
c.1200G>C (p.Leu400=)
n.3607-211C>G
n.4043-211C>G
c.1083G>C (p.Leu361=)
c.1101G>C (p.Leu367=)
c.858G>C (p.Leu286=)
c.891G>C (p.Leu297=)
c.909G>C (p.Leu303=)
2g.127428475G>TCA428618922PROCc.915G>T (p.Leu305=)
c.239G>T
c.1017G>T (p.Leu339=)
c.1098G>T (p.Leu366=)
c.1080G>T (p.Leu360=)
c.978G>T (p.Leu326=)
n.1332-211C>A
c.1158G>T (p.Leu386=)
c.1260G>T (p.Leu420=)
c.1200G>T (p.Leu400=)
n.3607-211C>A
n.4043-211C>A
c.1083G>T (p.Leu361=)
c.1101G>T (p.Leu367=)
c.858G>T (p.Leu286=)
c.891G>T (p.Leu297=)
c.909G>T (p.Leu303=)
2g.127428476G>ACA348404819PROCc.916G>A (p.Ala306Thr)
c.240G>A
c.1018G>A (p.Ala340Thr)
c.1099G>A (p.Ala367Thr)
c.1081G>A (p.Ala361Thr)
c.979G>A (p.Ala327Thr)
n.1332-212C>T
c.1159G>A (p.Ala387Thr)
c.1261G>A (p.Ala421Thr)
c.1201G>A (p.Ala401Thr)
n.3607-212C>T
n.4043-212C>T
c.1084G>A (p.Ala362Thr)
c.1102G>A (p.Ala368Thr)
c.859G>A (p.Ala287Thr)
c.892G>A (p.Ala298Thr)
c.910G>A (p.Ala304Thr)
2g.127428476G>CCA348404822PROCc.916G>C (p.Ala306Pro)
c.240G>C
c.1018G>C (p.Ala340Pro)
c.1099G>C (p.Ala367Pro)
c.1081G>C (p.Ala361Pro)
c.979G>C (p.Ala327Pro)
n.1332-212C>G
c.1159G>C (p.Ala387Pro)
c.1261G>C (p.Ala421Pro)
c.1201G>C (p.Ala401Pro)
n.3607-212C>G
n.4043-212C>G
c.1084G>C (p.Ala362Pro)
c.1102G>C (p.Ala368Pro)
c.859G>C (p.Ala287Pro)
c.892G>C (p.Ala298Pro)
c.910G>C (p.Ala304Pro)
2g.127428476G=CA1286884493PROCc.916G= (p.Ala306=)
c.240G=
c.1018G= (p.Ala340=)
c.1099G= (p.Ala367=)
c.1081G= (p.Ala361=)
c.979G= (p.Ala327=)
n.1332-212C=
c.1159G= (p.Ala387=)
c.1261G= (p.Ala421=)
c.1201G= (p.Ala401=)
n.3607-212C=
n.4043-212C=
c.1084G= (p.Ala362=)
c.1102G= (p.Ala368=)
c.859G= (p.Ala287=)
c.892G= (p.Ala298=)
c.910G= (p.Ala304=)
2g.127428476G>TCA348404824PROCc.916G>T (p.Ala306Ser)
c.240G>T
c.1018G>T (p.Ala340Ser)
c.1099G>T (p.Ala367Ser)
c.1081G>T (p.Ala361Ser)
c.979G>T (p.Ala327Ser)
n.1332-212C>A
c.1159G>T (p.Ala387Ser)
c.1261G>T (p.Ala421Ser)
c.1201G>T (p.Ala401Ser)
n.3607-212C>A
n.4043-212C>A
c.1084G>T (p.Ala362Ser)
c.1102G>T (p.Ala368Ser)
c.859G>T (p.Ala287Ser)
c.892G>T (p.Ala298Ser)
c.910G>T (p.Ala304Ser)
 ClinVar dbSNP
2g.127428477C>ACA348404827PROCc.917C>A (p.Ala306Asp)
c.241C>A
c.1019C>A (p.Ala340Asp)
c.1100C>A (p.Ala367Asp)
c.1082C>A (p.Ala361Asp)
c.980C>A (p.Ala327Asp)
n.1332-213G>T
c.1160C>A (p.Ala387Asp)
c.1262C>A (p.Ala421Asp)
c.1202C>A (p.Ala401Asp)
n.3607-213G>T
n.4043-213G>T
c.1085C>A (p.Ala362Asp)
c.1103C>A (p.Ala368Asp)
c.860C>A (p.Ala287Asp)
c.893C>A (p.Ala298Asp)
c.911C>A (p.Ala304Asp)
2g.127428477C>GCA348404829PROCc.917C>G (p.Ala306Gly)
c.241C>G
c.1019C>G (p.Ala340Gly)
c.1100C>G (p.Ala367Gly)
c.1082C>G (p.Ala361Gly)
c.980C>G (p.Ala327Gly)
n.1332-213G>C
c.1160C>G (p.Ala387Gly)
c.1262C>G (p.Ala421Gly)
c.1202C>G (p.Ala401Gly)
n.3607-213G>C
n.4043-213G>C
c.1085C>G (p.Ala362Gly)
c.1103C>G (p.Ala368Gly)
c.860C>G (p.Ala287Gly)
c.893C>G (p.Ala298Gly)
c.911C>G (p.Ala304Gly)
2g.127428477C>TCA348404832PROCc.917C>T (p.Ala306Val)
c.241C>T
c.1019C>T (p.Ala340Val)
c.1100C>T (p.Ala367Val)
c.1082C>T (p.Ala361Val)
c.980C>T (p.Ala327Val)
n.1332-213G>A
c.1160C>T (p.Ala387Val)
c.1262C>T (p.Ala421Val)
c.1202C>T (p.Ala401Val)
n.3607-213G>A
n.4043-213G>A
c.1085C>T (p.Ala362Val)
c.1103C>T (p.Ala368Val)
c.860C>T (p.Ala287Val)
c.893C>T (p.Ala298Val)
c.911C>T (p.Ala304Val)
2g.127428478C>ACA428618923PROCc.918C>A (p.Ala306=)
c.242C>A
c.1020C>A (p.Ala340=)
c.1101C>A (p.Ala367=)
c.1083C>A (p.Ala361=)
c.981C>A (p.Ala327=)
n.1332-214G>T
c.1161C>A (p.Ala387=)
c.1263C>A (p.Ala421=)
c.1203C>A (p.Ala401=)
n.3607-214G>T
n.4043-214G>T
c.1086C>A (p.Ala362=)
c.1104C>A (p.Ala368=)
c.861C>A (p.Ala287=)
c.894C>A (p.Ala298=)
c.912C>A (p.Ala304=)
2g.127428478C>GCA428618924PROCc.918C>G (p.Ala306=)
c.242C>G
c.1020C>G (p.Ala340=)
c.1101C>G (p.Ala367=)
c.1083C>G (p.Ala361=)
c.981C>G (p.Ala327=)
n.1332-214G>C
c.1161C>G (p.Ala387=)
c.1263C>G (p.Ala421=)
c.1203C>G (p.Ala401=)
n.3607-214G>C
n.4043-214G>C
c.1086C>G (p.Ala362=)
c.1104C>G (p.Ala368=)
c.861C>G (p.Ala287=)
c.894C>G (p.Ala298=)
c.912C>G (p.Ala304=)
2g.127428478C>TCA428618925PROCc.918C>T (p.Ala306=)
c.242C>T
c.1020C>T (p.Ala340=)
c.1101C>T (p.Ala367=)
c.1083C>T (p.Ala361=)
c.981C>T (p.Ala327=)
n.1332-214G>A
c.1161C>T (p.Ala387=)
c.1263C>T (p.Ala421=)
c.1203C>T (p.Ala401=)
n.3607-214G>A
n.4043-214G>A
c.1086C>T (p.Ala362=)
c.1104C>T (p.Ala368=)
c.861C>T (p.Ala287=)
c.894C>T (p.Ala298=)
c.912C>T (p.Ala304=)
 dbSNP
2g.127428479C>ACA348404835PROCc.919C>A (p.Gln307Lys)
c.243C>A
c.1021C>A (p.Gln341Lys)
c.1102C>A (p.Gln368Lys)
c.1084C>A (p.Gln362Lys)
c.982C>A (p.Gln328Lys)
n.1332-215G>T
c.1162C>A (p.Gln388Lys)
c.1264C>A (p.Gln422Lys)
c.1204C>A (p.Gln402Lys)
n.3607-215G>T
n.4043-215G>T
c.1087C>A (p.Gln363Lys)
c.1105C>A (p.Gln369Lys)
c.862C>A (p.Gln288Lys)
c.895C>A (p.Gln299Lys)
c.913C>A (p.Gln305Lys)
2g.127428479C>GCA348404838PROCc.919C>G (p.Gln307Glu)
c.243C>G
c.1021C>G (p.Gln341Glu)
c.1102C>G (p.Gln368Glu)
c.1084C>G (p.Gln362Glu)
c.982C>G (p.Gln328Glu)
n.1332-215G>C
c.1162C>G (p.Gln388Glu)
c.1264C>G (p.Gln422Glu)
c.1204C>G (p.Gln402Glu)
n.3607-215G>C
n.4043-215G>C
c.1087C>G (p.Gln363Glu)
c.1105C>G (p.Gln369Glu)
c.862C>G (p.Gln288Glu)
c.895C>G (p.Gln299Glu)
c.913C>G (p.Gln305Glu)
2g.127428479C>TCA348404841PROCc.919C>T (p.Gln307Ter)
c.243C>T
c.1021C>T (p.Gln341Ter)
c.1102C>T (p.Gln368Ter)
c.1084C>T (p.Gln362Ter)
c.982C>T (p.Gln328Ter)
n.1332-215G>A
c.1162C>T (p.Gln388Ter)
c.1264C>T (p.Gln422Ter)
c.1204C>T (p.Gln402Ter)
n.3607-215G>A
n.4043-215G>A
c.1087C>T (p.Gln363Ter)
c.1105C>T (p.Gln369Ter)
c.862C>T (p.Gln288Ter)
c.895C>T (p.Gln299Ter)
c.913C>T (p.Gln305Ter)
2g.127428480delCA2660997777PROCc.920del (p.Gln307ArgfsTer9)
c.244del
c.1022del (p.Gln341ArgfsTer9)
c.1103del (p.Gln368ArgfsTer9)
c.1085del (p.Gln362ArgfsTer9)
c.983del (p.Gln328ArgfsTer9)
n.1332-216del
c.1163del (p.Gln388ArgfsTer9)
c.1265del (p.Gln422ArgfsTer9)
c.1205del (p.Gln402ArgfsTer9)
n.3607-216del
n.4043-216del
c.1088del (p.Gln363ArgfsTer9)
c.1106del (p.Gln369ArgfsTer9)
c.863del (p.Gln288ArgfsTer9)
c.896del (p.Gln299ArgfsTer9)
c.914del (p.Gln305ArgfsTer9)
 gnomAD v4
2g.127428480A>CCA348404845PROCc.920A>C (p.Gln307Pro)
c.244A>C
c.1022A>C (p.Gln341Pro)
c.1103A>C (p.Gln368Pro)
c.1085A>C (p.Gln362Pro)
c.983A>C (p.Gln328Pro)
n.1332-216T>G
c.1163A>C (p.Gln388Pro)
c.1265A>C (p.Gln422Pro)
c.1205A>C (p.Gln402Pro)
n.3607-216T>G
n.4043-216T>G
c.1088A>C (p.Gln363Pro)
c.1106A>C (p.Gln369Pro)
c.863A>C (p.Gln288Pro)
c.896A>C (p.Gln299Pro)
c.914A>C (p.Gln305Pro)
2g.127428480A>GCA348404847PROCc.920A>G (p.Gln307Arg)
c.244A>G
c.1022A>G (p.Gln341Arg)
c.1103A>G (p.Gln368Arg)
c.1085A>G (p.Gln362Arg)
c.983A>G (p.Gln328Arg)
n.1332-216T>C
c.1163A>G (p.Gln388Arg)
c.1265A>G (p.Gln422Arg)
c.1205A>G (p.Gln402Arg)
n.3607-216T>C
n.4043-216T>C
c.1088A>G (p.Gln363Arg)
c.1106A>G (p.Gln369Arg)
c.863A>G (p.Gln288Arg)
c.896A>G (p.Gln299Arg)
c.914A>G (p.Gln305Arg)
 gnomAD v4
2g.127428480A>TCA348404851PROCc.920A>T (p.Gln307Leu)
c.244A>T
c.1022A>T (p.Gln341Leu)
c.1103A>T (p.Gln368Leu)
c.1085A>T (p.Gln362Leu)
c.983A>T (p.Gln328Leu)
n.1332-216T>A
c.1163A>T (p.Gln388Leu)
c.1265A>T (p.Gln422Leu)
c.1205A>T (p.Gln402Leu)
n.3607-216T>A
n.4043-216T>A
c.1088A>T (p.Gln363Leu)
c.1106A>T (p.Gln369Leu)
c.863A>T (p.Gln288Leu)
c.896A>T (p.Gln299Leu)
c.914A>T (p.Gln305Leu)
2g.127428481G>ACA428618926PROCc.921G>A (p.Gln307=)
c.245G>A
c.1023G>A (p.Gln341=)
c.1104G>A (p.Gln368=)
c.1086G>A (p.Gln362=)
c.984G>A (p.Gln328=)
n.1332-217C>T
c.1164G>A (p.Gln388=)
c.1266G>A (p.Gln422=)
c.1206G>A (p.Gln402=)
n.3607-217C>T
n.4043-217C>T
c.1089G>A (p.Gln363=)
c.1107G>A (p.Gln369=)
c.864G>A (p.Gln288=)
c.897G>A (p.Gln299=)
c.915G>A (p.Gln305=)
2g.127428481G>CCA348404855PROCc.921G>C (p.Gln307His)
c.245G>C
c.1023G>C (p.Gln341His)
c.1104G>C (p.Gln368His)
c.1086G>C (p.Gln362His)
c.984G>C (p.Gln328His)
n.1332-217C>G
c.1164G>C (p.Gln388His)
c.1266G>C (p.Gln422His)
c.1206G>C (p.Gln402His)
n.3607-217C>G
n.4043-217C>G
c.1089G>C (p.Gln363His)
c.1107G>C (p.Gln369His)
c.864G>C (p.Gln288His)
c.897G>C (p.Gln299His)
c.915G>C (p.Gln305His)
2g.127428481G>TCA348404857PROCc.921G>T (p.Gln307His)
c.245G>T
c.1023G>T (p.Gln341His)
c.1104G>T (p.Gln368His)
c.1086G>T (p.Gln362His)
c.984G>T (p.Gln328His)
n.1332-217C>A
c.1164G>T (p.Gln388His)
c.1266G>T (p.Gln422His)
c.1206G>T (p.Gln402His)
n.3607-217C>A
n.4043-217C>A
c.1089G>T (p.Gln363His)
c.1107G>T (p.Gln369His)
c.864G>T (p.Gln288His)
c.897G>T (p.Gln299His)
c.915G>T (p.Gln305His)
2g.127428482C>ACA348404861PROCc.922C>A (p.Pro308Thr)
c.246C>A
c.1024C>A (p.Pro342Thr)
c.1105C>A (p.Pro369Thr)
c.1087C>A (p.Pro363Thr)
c.985C>A (p.Pro329Thr)
n.1332-218G>T
c.1165C>A (p.Pro389Thr)
c.1267C>A (p.Pro423Thr)
c.1207C>A (p.Pro403Thr)
n.3607-218G>T
n.4043-218G>T
c.1090C>A (p.Pro364Thr)
c.1108C>A (p.Pro370Thr)
c.865C>A (p.Pro289Thr)
c.898C>A (p.Pro300Thr)
c.916C>A (p.Pro306Thr)
 gnomAD v4
2g.127428482C=CA1286884494PROCc.922C= (p.Pro308=)
c.246C=
c.1024C= (p.Pro342=)
c.1105C= (p.Pro369=)
c.1087C= (p.Pro363=)
c.985C= (p.Pro329=)
n.1332-218G=
c.1165C= (p.Pro389=)
c.1267C= (p.Pro423=)
c.1207C= (p.Pro403=)
n.3607-218G=
n.4043-218G=
c.1090C= (p.Pro364=)
c.1108C= (p.Pro370=)
c.865C= (p.Pro289=)
c.898C= (p.Pro300=)
c.916C= (p.Pro306=)
2g.127428482C>GCA348404866PROCc.922C>G (p.Pro308Ala)
c.246C>G
c.1024C>G (p.Pro342Ala)
c.1105C>G (p.Pro369Ala)
c.1087C>G (p.Pro363Ala)
c.985C>G (p.Pro329Ala)
n.1332-218G>C
c.1165C>G (p.Pro389Ala)
c.1267C>G (p.Pro423Ala)
c.1207C>G (p.Pro403Ala)
n.3607-218G>C
n.4043-218G>C
c.1090C>G (p.Pro364Ala)
c.1108C>G (p.Pro370Ala)
c.865C>G (p.Pro289Ala)
c.898C>G (p.Pro300Ala)
c.916C>G (p.Pro306Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.127428482C>TCA348404863PROCc.922C>T (p.Pro308Ser)
c.246C>T
c.1024C>T (p.Pro342Ser)
c.1105C>T (p.Pro369Ser)
c.1087C>T (p.Pro363Ser)
c.985C>T (p.Pro329Ser)
n.1332-218G>A
c.1165C>T (p.Pro389Ser)
c.1267C>T (p.Pro423Ser)
c.1207C>T (p.Pro403Ser)
n.3607-218G>A
n.4043-218G>A
c.1090C>T (p.Pro364Ser)
c.1108C>T (p.Pro370Ser)
c.865C>T (p.Pro289Ser)
c.898C>T (p.Pro300Ser)
c.916C>T (p.Pro306Ser)
2g.127428483C>ACA348404869PROCc.923C>A (p.Pro308His)
c.247C>A
c.1025C>A (p.Pro342His)
c.1106C>A (p.Pro369His)
c.1088C>A (p.Pro363His)
c.986C>A (p.Pro329His)
n.1332-219G>T
c.1166C>A (p.Pro389His)
c.1268C>A (p.Pro423His)
c.1208C>A (p.Pro403His)
n.3607-219G>T
n.4043-219G>T
c.1091C>A (p.Pro364His)
c.1109C>A (p.Pro370His)
c.866C>A (p.Pro289His)
c.899C>A (p.Pro300His)
c.917C>A (p.Pro306His)
2g.127428483C>GCA348404875PROCc.923C>G (p.Pro308Arg)
c.247C>G
c.1025C>G (p.Pro342Arg)
c.1106C>G (p.Pro369Arg)
c.1088C>G (p.Pro363Arg)
c.986C>G (p.Pro329Arg)
n.1332-219G>C
c.1166C>G (p.Pro389Arg)
c.1268C>G (p.Pro423Arg)
c.1208C>G (p.Pro403Arg)
n.3607-219G>C
n.4043-219G>C
c.1091C>G (p.Pro364Arg)
c.1109C>G (p.Pro370Arg)
c.866C>G (p.Pro289Arg)
c.899C>G (p.Pro300Arg)
c.917C>G (p.Pro306Arg)
2g.127428483C>TCA348404871PROCc.923C>T (p.Pro308Leu)
c.247C>T
c.1025C>T (p.Pro342Leu)
c.1106C>T (p.Pro369Leu)
c.1088C>T (p.Pro363Leu)
c.986C>T (p.Pro329Leu)
n.1332-219G>A
c.1166C>T (p.Pro389Leu)
c.1268C>T (p.Pro423Leu)
c.1208C>T (p.Pro403Leu)
n.3607-219G>A
n.4043-219G>A
c.1091C>T (p.Pro364Leu)
c.1109C>T (p.Pro370Leu)
c.866C>T (p.Pro289Leu)
c.899C>T (p.Pro300Leu)
c.917C>T (p.Pro306Leu)
2g.127428484C>ACA428871465PROCc.924C>A (p.Pro308=)
c.248C>A
c.1026C>A (p.Pro342=)
c.1107C>A (p.Pro369=)
c.1089C>A (p.Pro363=)
c.987C>A (p.Pro329=)
n.1332-220G>T
c.1167C>A (p.Pro389=)
c.1269C>A (p.Pro423=)
c.1209C>A (p.Pro403=)
n.3607-220G>T
n.4043-220G>T
c.1092C>A (p.Pro364=)
c.1110C>A (p.Pro370=)
c.867C>A (p.Pro289=)
c.900C>A (p.Pro300=)
c.918C>A (p.Pro306=)
 dbSNP gnomAD v2 gnomAD v4
2g.127428484C=CA1286884495PROCc.924C= (p.Pro308=)
c.248C=
c.1026C= (p.Pro342=)
c.1107C= (p.Pro369=)
c.1089C= (p.Pro363=)
c.987C= (p.Pro329=)
n.1332-220G=
c.1167C= (p.Pro389=)
c.1269C= (p.Pro423=)
c.1209C= (p.Pro403=)
n.3607-220G=
n.4043-220G=
c.1092C= (p.Pro364=)
c.1110C= (p.Pro370=)
c.867C= (p.Pro289=)
c.900C= (p.Pro300=)
c.918C= (p.Pro306=)
2g.127428484C>GCA428871467PROCc.924C>G (p.Pro308=)
c.248C>G
c.1026C>G (p.Pro342=)
c.1107C>G (p.Pro369=)
c.1089C>G (p.Pro363=)
c.987C>G (p.Pro329=)
n.1332-220G>C
c.1167C>G (p.Pro389=)
c.1269C>G (p.Pro423=)
c.1209C>G (p.Pro403=)
n.3607-220G>C
n.4043-220G>C
c.1092C>G (p.Pro364=)
c.1110C>G (p.Pro370=)
c.867C>G (p.Pro289=)
c.900C>G (p.Pro300=)
c.918C>G (p.Pro306=)
2g.127428484C>TCA1859487PROCc.924C>T (p.Pro308=)
c.248C>T
c.1026C>T (p.Pro342=)
c.1107C>T (p.Pro369=)
c.1089C>T (p.Pro363=)
c.987C>T (p.Pro329=)
n.1332-220G>A
c.1167C>T (p.Pro389=)
c.1269C>T (p.Pro423=)
c.1209C>T (p.Pro403=)
n.3607-220G>A
n.4043-220G>A
c.1092C>T (p.Pro364=)
c.1110C>T (p.Pro370=)
c.867C>T (p.Pro289=)
c.900C>T (p.Pro300=)
c.918C>T (p.Pro306=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428485G>ACA114396PROCc.925G>A (p.Ala309Thr)
c.249G>A
c.1027G>A (p.Ala343Thr)
c.1108G>A (p.Ala370Thr)
c.1090G>A (p.Ala364Thr)
c.988G>A (p.Ala330Thr)
n.1332-221C>T
c.1168G>A (p.Ala390Thr)
c.1270G>A (p.Ala424Thr)
c.1210G>A (p.Ala404Thr)
n.3607-221C>T
n.4043-221C>T
c.1093G>A (p.Ala365Thr)
c.1111G>A (p.Ala371Thr)
c.868G>A (p.Ala290Thr)
c.901G>A (p.Ala301Thr)
c.919G>A (p.Ala307Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428485G>CCA348404879PROCc.925G>C (p.Ala309Pro)
c.249G>C
c.1027G>C (p.Ala343Pro)
c.1108G>C (p.Ala370Pro)
c.1090G>C (p.Ala364Pro)
c.988G>C (p.Ala330Pro)
n.1332-221C>G
c.1168G>C (p.Ala390Pro)
c.1270G>C (p.Ala424Pro)
c.1210G>C (p.Ala404Pro)
n.3607-221C>G
n.4043-221C>G
c.1093G>C (p.Ala365Pro)
c.1111G>C (p.Ala371Pro)
c.868G>C (p.Ala290Pro)
c.901G>C (p.Ala301Pro)
c.919G>C (p.Ala307Pro)
 gnomAD v4
2g.127428485G=CA1286884496PROCc.925G= (p.Ala309=)
c.249G=
c.1027G= (p.Ala343=)
c.1108G= (p.Ala370=)
c.1090G= (p.Ala364=)
c.988G= (p.Ala330=)
n.1332-221C=
c.1168G= (p.Ala390=)
c.1270G= (p.Ala424=)
c.1210G= (p.Ala404=)
n.3607-221C=
n.4043-221C=
c.1093G= (p.Ala365=)
c.1111G= (p.Ala371=)
c.868G= (p.Ala290=)
c.901G= (p.Ala301=)
c.919G= (p.Ala307=)
2g.127428485G>TCA348404882PROCc.925G>T (p.Ala309Ser)
c.249G>T
c.1027G>T (p.Ala343Ser)
c.1108G>T (p.Ala370Ser)
c.1090G>T (p.Ala364Ser)
c.988G>T (p.Ala330Ser)
n.1332-221C>A
c.1168G>T (p.Ala390Ser)
c.1270G>T (p.Ala424Ser)
c.1210G>T (p.Ala404Ser)
n.3607-221C>A
n.4043-221C>A
c.1093G>T (p.Ala365Ser)
c.1111G>T (p.Ala371Ser)
c.868G>T (p.Ala290Ser)
c.901G>T (p.Ala301Ser)
c.919G>T (p.Ala307Ser)
2g.127428486C>ACA348404888PROCc.926C>A (p.Ala309Asp)
c.250C>A
c.1028C>A (p.Ala343Asp)
c.1109C>A (p.Ala370Asp)
c.1091C>A (p.Ala364Asp)
c.989C>A (p.Ala330Asp)
n.1332-222G>T
c.1169C>A (p.Ala390Asp)
c.1271C>A (p.Ala424Asp)
c.1211C>A (p.Ala404Asp)
n.3607-222G>T
n.4043-222G>T
c.1094C>A (p.Ala365Asp)
c.1112C>A (p.Ala371Asp)
c.869C>A (p.Ala290Asp)
c.902C>A (p.Ala301Asp)
c.920C>A (p.Ala307Asp)
2g.127428486C>GCA348404890PROCc.926C>G (p.Ala309Gly)
c.250C>G
c.1028C>G (p.Ala343Gly)
c.1109C>G (p.Ala370Gly)
c.1091C>G (p.Ala364Gly)
c.989C>G (p.Ala330Gly)
n.1332-222G>C
c.1169C>G (p.Ala390Gly)
c.1271C>G (p.Ala424Gly)
c.1211C>G (p.Ala404Gly)
n.3607-222G>C
n.4043-222G>C
c.1094C>G (p.Ala365Gly)
c.1112C>G (p.Ala371Gly)
c.869C>G (p.Ala290Gly)
c.902C>G (p.Ala301Gly)
c.920C>G (p.Ala307Gly)
2g.127428486C>TCA348404891PROCc.926C>T (p.Ala309Val)
c.250C>T
c.1028C>T (p.Ala343Val)
c.1109C>T (p.Ala370Val)
c.1091C>T (p.Ala364Val)
c.989C>T (p.Ala330Val)
n.1332-222G>A
c.1169C>T (p.Ala390Val)
c.1271C>T (p.Ala424Val)
c.1211C>T (p.Ala404Val)
n.3607-222G>A
n.4043-222G>A
c.1094C>T (p.Ala365Val)
c.1112C>T (p.Ala371Val)
c.869C>T (p.Ala290Val)
c.902C>T (p.Ala301Val)
c.920C>T (p.Ala307Val)
2g.127428487C>ACA428871483PROCc.927C>A (p.Ala309=)
c.251C>A
c.1029C>A (p.Ala343=)
c.1110C>A (p.Ala370=)
c.1092C>A (p.Ala364=)
c.990C>A (p.Ala330=)
n.1332-223G>T
c.1170C>A (p.Ala390=)
c.1272C>A (p.Ala424=)
c.1212C>A (p.Ala404=)
n.3607-223G>T
n.4043-223G>T
c.1095C>A (p.Ala365=)
c.1113C>A (p.Ala371=)
c.870C>A (p.Ala290=)
c.903C>A (p.Ala301=)
c.921C>A (p.Ala307=)
 gnomAD v4
2g.127428487C=CA1286884497PROCc.927C= (p.Ala309=)
c.251C=
c.1029C= (p.Ala343=)
c.1110C= (p.Ala370=)
c.1092C= (p.Ala364=)
c.990C= (p.Ala330=)
n.1332-223G=
c.1170C= (p.Ala390=)
c.1272C= (p.Ala424=)
c.1212C= (p.Ala404=)
n.3607-223G=
n.4043-223G=
c.1095C= (p.Ala365=)
c.1113C= (p.Ala371=)
c.870C= (p.Ala290=)
c.903C= (p.Ala301=)
c.921C= (p.Ala307=)
2g.127428487C>GCA428871485PROCc.927C>G (p.Ala309=)
c.251C>G
c.1029C>G (p.Ala343=)
c.1110C>G (p.Ala370=)
c.1092C>G (p.Ala364=)
c.990C>G (p.Ala330=)
n.1332-223G>C
c.1170C>G (p.Ala390=)
c.1272C>G (p.Ala424=)
c.1212C>G (p.Ala404=)
n.3607-223G>C
n.4043-223G>C
c.1095C>G (p.Ala365=)
c.1113C>G (p.Ala371=)
c.870C>G (p.Ala290=)
c.903C>G (p.Ala301=)
c.921C>G (p.Ala307=)
2g.127428487C>TCA1859488PROCc.927C>T (p.Ala309=)
c.251C>T
c.1029C>T (p.Ala343=)
c.1110C>T (p.Ala370=)
c.1092C>T (p.Ala364=)
c.990C>T (p.Ala330=)
n.1332-223G>A
c.1170C>T (p.Ala390=)
c.1272C>T (p.Ala424=)
c.1212C>T (p.Ala404=)
n.3607-223G>A
n.4043-223G>A
c.1095C>T (p.Ala365=)
c.1113C>T (p.Ala371=)
c.870C>T (p.Ala290=)
c.903C>T (p.Ala301=)
c.921C>T (p.Ala307=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428488A>CCA348404892PROCc.928A>C (p.Thr310Pro)
c.252A>C
c.1030A>C (p.Thr344Pro)
c.1111A>C (p.Thr371Pro)
c.1093A>C (p.Thr365Pro)
c.991A>C (p.Thr331Pro)
n.1332-224T>G
c.1171A>C (p.Thr391Pro)
c.1273A>C (p.Thr425Pro)
c.1213A>C (p.Thr405Pro)
n.3607-224T>G
n.4043-224T>G
c.1096A>C (p.Thr366Pro)
c.1114A>C (p.Thr372Pro)
c.871A>C (p.Thr291Pro)
c.904A>C (p.Thr302Pro)
c.922A>C (p.Thr308Pro)
2g.127428488A>GCA348404895PROCc.928A>G (p.Thr310Ala)
c.252A>G
c.1030A>G (p.Thr344Ala)
c.1111A>G (p.Thr371Ala)
c.1093A>G (p.Thr365Ala)
c.991A>G (p.Thr331Ala)
n.1332-224T>C
c.1171A>G (p.Thr391Ala)
c.1273A>G (p.Thr425Ala)
c.1213A>G (p.Thr405Ala)
n.3607-224T>C
n.4043-224T>C
c.1096A>G (p.Thr366Ala)
c.1114A>G (p.Thr372Ala)
c.871A>G (p.Thr291Ala)
c.904A>G (p.Thr302Ala)
c.922A>G (p.Thr308Ala)
2g.127428488A>TCA348404906PROCc.928A>T (p.Thr310Ser)
c.252A>T
c.1030A>T (p.Thr344Ser)
c.1111A>T (p.Thr371Ser)
c.1093A>T (p.Thr365Ser)
c.991A>T (p.Thr331Ser)
n.1332-224T>A
c.1171A>T (p.Thr391Ser)
c.1273A>T (p.Thr425Ser)
c.1213A>T (p.Thr405Ser)
n.3607-224T>A
n.4043-224T>A
c.1096A>T (p.Thr366Ser)
c.1114A>T (p.Thr372Ser)
c.871A>T (p.Thr291Ser)
c.904A>T (p.Thr302Ser)
c.922A>T (p.Thr308Ser)
2g.127428489C>ACA348404916PROCc.929C>A (p.Thr310Asn)
c.253C>A
c.1031C>A (p.Thr344Asn)
c.1112C>A (p.Thr371Asn)
c.1094C>A (p.Thr365Asn)
c.992C>A (p.Thr331Asn)
n.1332-225G>T
c.1172C>A (p.Thr391Asn)
c.1274C>A (p.Thr425Asn)
c.1214C>A (p.Thr405Asn)
n.3607-225G>T
n.4043-225G>T
c.1097C>A (p.Thr366Asn)
c.1115C>A (p.Thr372Asn)
c.872C>A (p.Thr291Asn)
c.905C>A (p.Thr302Asn)
c.923C>A (p.Thr308Asn)
 COSMIC COSMIC
2g.127428489C>GCA348404913PROCc.929C>G (p.Thr310Ser)
c.253C>G
c.1031C>G (p.Thr344Ser)
c.1112C>G (p.Thr371Ser)
c.1094C>G (p.Thr365Ser)
c.992C>G (p.Thr331Ser)
n.1332-225G>C
c.1172C>G (p.Thr391Ser)
c.1274C>G (p.Thr425Ser)
c.1214C>G (p.Thr405Ser)
n.3607-225G>C
n.4043-225G>C
c.1097C>G (p.Thr366Ser)
c.1115C>G (p.Thr372Ser)
c.872C>G (p.Thr291Ser)
c.905C>G (p.Thr302Ser)
c.923C>G (p.Thr308Ser)
2g.127428489C>TCA348404910PROCc.929C>T (p.Thr310Ile)
c.253C>T
c.1031C>T (p.Thr344Ile)
c.1112C>T (p.Thr371Ile)
c.1094C>T (p.Thr365Ile)
c.992C>T (p.Thr331Ile)
n.1332-225G>A
c.1172C>T (p.Thr391Ile)
c.1274C>T (p.Thr425Ile)
c.1214C>T (p.Thr405Ile)
n.3607-225G>A
n.4043-225G>A
c.1097C>T (p.Thr366Ile)
c.1115C>T (p.Thr372Ile)
c.872C>T (p.Thr291Ile)
c.905C>T (p.Thr302Ile)
c.923C>T (p.Thr308Ile)
 gnomAD v4
2g.127428490C>ACA428871499PROCc.930C>A (p.Thr310=)
c.254C>A
c.1032C>A (p.Thr344=)
c.1113C>A (p.Thr371=)
c.1095C>A (p.Thr365=)
c.993C>A (p.Thr331=)
n.1332-226G>T
c.1173C>A (p.Thr391=)
c.1275C>A (p.Thr425=)
c.1215C>A (p.Thr405=)
n.3607-226G>T
n.4043-226G>T
c.1098C>A (p.Thr366=)
c.1116C>A (p.Thr372=)
c.873C>A (p.Thr291=)
c.906C>A (p.Thr302=)
c.924C>A (p.Thr308=)
2g.127428490C=CA1286884498PROCc.930C= (p.Thr310=)
c.254C=
c.1032C= (p.Thr344=)
c.1113C= (p.Thr371=)
c.1095C= (p.Thr365=)
c.993C= (p.Thr331=)
n.1332-226G=
c.1173C= (p.Thr391=)
c.1275C= (p.Thr425=)
c.1215C= (p.Thr405=)
n.3607-226G=
n.4043-226G=
c.1098C= (p.Thr366=)
c.1116C= (p.Thr372=)
c.873C= (p.Thr291=)
c.906C= (p.Thr302=)
c.924C= (p.Thr308=)
2g.127428490C>GCA428871503PROCc.930C>G (p.Thr310=)
c.254C>G
c.1032C>G (p.Thr344=)
c.1113C>G (p.Thr371=)
c.1095C>G (p.Thr365=)
c.993C>G (p.Thr331=)
n.1332-226G>C
c.1173C>G (p.Thr391=)
c.1275C>G (p.Thr425=)
c.1215C>G (p.Thr405=)
n.3607-226G>C
n.4043-226G>C
c.1098C>G (p.Thr366=)
c.1116C>G (p.Thr372=)
c.873C>G (p.Thr291=)
c.906C>G (p.Thr302=)
c.924C>G (p.Thr308=)
2g.127428490C>TCA428871501PROCc.930C>T (p.Thr310=)
c.254C>T
c.1032C>T (p.Thr344=)
c.1113C>T (p.Thr371=)
c.1095C>T (p.Thr365=)
c.993C>T (p.Thr331=)
n.1332-226G>A
c.1173C>T (p.Thr391=)
c.1275C>T (p.Thr425=)
c.1215C>T (p.Thr405=)
n.3607-226G>A
n.4043-226G>A
c.1098C>T (p.Thr366=)
c.1116C>T (p.Thr372=)
c.873C>T (p.Thr291=)
c.906C>T (p.Thr302=)
c.924C>T (p.Thr308=)
 dbSNP gnomAD v2 gnomAD v4
2g.127428491C>ACA348404920PROCc.931C>A (p.Leu311Ile)
c.255C>A
c.1033C>A (p.Leu345Ile)
c.1114C>A (p.Leu372Ile)
c.1096C>A (p.Leu366Ile)
c.994C>A (p.Leu332Ile)
n.1332-227G>T
c.1174C>A (p.Leu392Ile)
c.1276C>A (p.Leu426Ile)
c.1216C>A (p.Leu406Ile)
n.3607-227G>T
n.4043-227G>T
c.1099C>A (p.Leu367Ile)
c.1117C>A (p.Leu373Ile)
c.874C>A (p.Leu292Ile)
c.907C>A (p.Leu303Ile)
c.925C>A (p.Leu309Ile)
2g.127428491C=CA1286884499PROCc.931C= (p.Leu311=)
c.255C=
c.1033C= (p.Leu345=)
c.1114C= (p.Leu372=)
c.1096C= (p.Leu366=)
c.994C= (p.Leu332=)
n.1332-227G=
c.1174C= (p.Leu392=)
c.1276C= (p.Leu426=)
c.1216C= (p.Leu406=)
n.3607-227G=
n.4043-227G=
c.1099C= (p.Leu367=)
c.1117C= (p.Leu373=)
c.874C= (p.Leu292=)
c.907C= (p.Leu303=)
c.925C= (p.Leu309=)
2g.127428491C>GCA348404925PROCc.931C>G (p.Leu311Val)
c.255C>G
c.1033C>G (p.Leu345Val)
c.1114C>G (p.Leu372Val)
c.1096C>G (p.Leu366Val)
c.994C>G (p.Leu332Val)
n.1332-227G>C
c.1174C>G (p.Leu392Val)
c.1276C>G (p.Leu426Val)
c.1216C>G (p.Leu406Val)
n.3607-227G>C
n.4043-227G>C
c.1099C>G (p.Leu367Val)
c.1117C>G (p.Leu373Val)
c.874C>G (p.Leu292Val)
c.907C>G (p.Leu303Val)
c.925C>G (p.Leu309Val)
2g.127428491C>TCA348404928PROCc.931C>T (p.Leu311Phe)
c.255C>T
c.1033C>T (p.Leu345Phe)
c.1114C>T (p.Leu372Phe)
c.1096C>T (p.Leu366Phe)
c.994C>T (p.Leu332Phe)
n.1332-227G>A
c.1174C>T (p.Leu392Phe)
c.1276C>T (p.Leu426Phe)
c.1216C>T (p.Leu406Phe)
n.3607-227G>A
n.4043-227G>A
c.1099C>T (p.Leu367Phe)
c.1117C>T (p.Leu373Phe)
c.874C>T (p.Leu292Phe)
c.907C>T (p.Leu303Phe)
c.925C>T (p.Leu309Phe)
 dbSNP
2g.127428492T>ACA348404932PROCc.932T>A (p.Leu311His)
c.256T>A
c.1034T>A (p.Leu345His)
c.1115T>A (p.Leu372His)
c.1097T>A (p.Leu366His)
c.995T>A (p.Leu332His)
n.1332-228A>T
c.1175T>A (p.Leu392His)
c.1277T>A (p.Leu426His)
c.1217T>A (p.Leu406His)
n.3607-228A>T
n.4043-228A>T
c.1100T>A (p.Leu367His)
c.1118T>A (p.Leu373His)
c.875T>A (p.Leu292His)
c.908T>A (p.Leu303His)
c.926T>A (p.Leu309His)
2g.127428492T>CCA348404934PROCc.932T>C (p.Leu311Pro)
c.256T>C
c.1034T>C (p.Leu345Pro)
c.1115T>C (p.Leu372Pro)
c.1097T>C (p.Leu366Pro)
c.995T>C (p.Leu332Pro)
n.1332-228A>G
c.1175T>C (p.Leu392Pro)
c.1277T>C (p.Leu426Pro)
c.1217T>C (p.Leu406Pro)
n.3607-228A>G
n.4043-228A>G
c.1100T>C (p.Leu367Pro)
c.1118T>C (p.Leu373Pro)
c.875T>C (p.Leu292Pro)
c.908T>C (p.Leu303Pro)
c.926T>C (p.Leu309Pro)
2g.127428492T>GCA348404936PROCc.932T>G (p.Leu311Arg)
c.256T>G
c.1034T>G (p.Leu345Arg)
c.1115T>G (p.Leu372Arg)
c.1097T>G (p.Leu366Arg)
c.995T>G (p.Leu332Arg)
n.1332-228A>C
c.1175T>G (p.Leu392Arg)
c.1277T>G (p.Leu426Arg)
c.1217T>G (p.Leu406Arg)
n.3607-228A>C
n.4043-228A>C
c.1100T>G (p.Leu367Arg)
c.1118T>G (p.Leu373Arg)
c.875T>G (p.Leu292Arg)
c.908T>G (p.Leu303Arg)
c.926T>G (p.Leu309Arg)
2g.127428493C>ACA428871518PROCc.933C>A (p.Leu311=)
c.257C>A
c.1035C>A (p.Leu345=)
c.1116C>A (p.Leu372=)
c.1098C>A (p.Leu366=)
c.996C>A (p.Leu332=)
n.1332-229G>T
c.1176C>A (p.Leu392=)
c.1278C>A (p.Leu426=)
c.1218C>A (p.Leu406=)
n.3607-229G>T
n.4043-229G>T
c.1101C>A (p.Leu367=)
c.1119C>A (p.Leu373=)
c.876C>A (p.Leu292=)
c.909C>A (p.Leu303=)
c.927C>A (p.Leu309=)
2g.127428493C>GCA428871516PROCc.933C>G (p.Leu311=)
c.257C>G
c.1035C>G (p.Leu345=)
c.1116C>G (p.Leu372=)
c.1098C>G (p.Leu366=)
c.996C>G (p.Leu332=)
n.1332-229G>C
c.1176C>G (p.Leu392=)
c.1278C>G (p.Leu426=)
c.1218C>G (p.Leu406=)
n.3607-229G>C
n.4043-229G>C
c.1101C>G (p.Leu367=)
c.1119C>G (p.Leu373=)
c.876C>G (p.Leu292=)
c.909C>G (p.Leu303=)
c.927C>G (p.Leu309=)
2g.127428493C>TCA428871514PROCc.933C>T (p.Leu311=)
c.257C>T
c.1035C>T (p.Leu345=)
c.1116C>T (p.Leu372=)
c.1098C>T (p.Leu366=)
c.996C>T (p.Leu332=)
n.1332-229G>A
c.1176C>T (p.Leu392=)
c.1278C>T (p.Leu426=)
c.1218C>T (p.Leu406=)
n.3607-229G>A
n.4043-229G>A
c.1101C>T (p.Leu367=)
c.1119C>T (p.Leu373=)
c.876C>T (p.Leu292=)
c.909C>T (p.Leu303=)
c.927C>T (p.Leu309=)
2g.127428494T>ACA348404943PROCc.934T>A (p.Ser312Thr)
c.258T>A
c.1036T>A (p.Ser346Thr)
c.1117T>A (p.Ser373Thr)
c.1099T>A (p.Ser367Thr)
c.997T>A (p.Ser333Thr)
n.1332-230A>T
c.1177T>A (p.Ser393Thr)
c.1279T>A (p.Ser427Thr)
c.1219T>A (p.Ser407Thr)
n.3607-230A>T
n.4043-230A>T
c.1102T>A (p.Ser368Thr)
c.1120T>A (p.Ser374Thr)
c.877T>A (p.Ser293Thr)
c.910T>A (p.Ser304Thr)
c.928T>A (p.Ser310Thr)
2g.127428494T>CCA348404947PROCc.934T>C (p.Ser312Pro)
c.258T>C
c.1036T>C (p.Ser346Pro)
c.1117T>C (p.Ser373Pro)
c.1099T>C (p.Ser367Pro)
c.997T>C (p.Ser333Pro)
n.1332-230A>G
c.1177T>C (p.Ser393Pro)
c.1279T>C (p.Ser427Pro)
c.1219T>C (p.Ser407Pro)
n.3607-230A>G
n.4043-230A>G
c.1102T>C (p.Ser368Pro)
c.1120T>C (p.Ser374Pro)
c.877T>C (p.Ser293Pro)
c.910T>C (p.Ser304Pro)
c.928T>C (p.Ser310Pro)
2g.127428494T>GCA348404948PROCc.934T>G (p.Ser312Ala)
c.258T>G
c.1036T>G (p.Ser346Ala)
c.1117T>G (p.Ser373Ala)
c.1099T>G (p.Ser367Ala)
c.997T>G (p.Ser333Ala)
n.1332-230A>C
c.1177T>G (p.Ser393Ala)
c.1279T>G (p.Ser427Ala)
c.1219T>G (p.Ser407Ala)
n.3607-230A>C
n.4043-230A>C
c.1102T>G (p.Ser368Ala)
c.1120T>G (p.Ser374Ala)
c.877T>G (p.Ser293Ala)
c.910T>G (p.Ser304Ala)
c.928T>G (p.Ser310Ala)
2g.127428495C>ACA348404950PROCc.935C>A (p.Ser312Ter)
c.259C>A
c.1037C>A (p.Ser346Ter)
c.1118C>A (p.Ser373Ter)
c.1100C>A (p.Ser367Ter)
c.998C>A (p.Ser333Ter)
n.1332-231G>T
c.1178C>A (p.Ser393Ter)
c.1280C>A (p.Ser427Ter)
c.1220C>A (p.Ser407Ter)
n.3607-231G>T
n.4043-231G>T
c.1103C>A (p.Ser368Ter)
c.1121C>A (p.Ser374Ter)
c.878C>A (p.Ser293Ter)
c.911C>A (p.Ser304Ter)
c.929C>A (p.Ser310Ter)
 gnomAD v4
2g.127428495C=CA1286884500PROCc.935C= (p.Ser312=)
c.259C=
c.1037C= (p.Ser346=)
c.1118C= (p.Ser373=)
c.1100C= (p.Ser367=)
c.998C= (p.Ser333=)
n.1332-231G=
c.1178C= (p.Ser393=)
c.1280C= (p.Ser427=)
c.1220C= (p.Ser407=)
n.3607-231G=
n.4043-231G=
c.1103C= (p.Ser368=)
c.1121C= (p.Ser374=)
c.878C= (p.Ser293=)
c.911C= (p.Ser304=)
c.929C= (p.Ser310=)
2g.127428495C>GCA348404952PROCc.935C>G (p.Ser312Trp)
c.259C>G
c.1037C>G (p.Ser346Trp)
c.1118C>G (p.Ser373Trp)
c.1100C>G (p.Ser367Trp)
c.998C>G (p.Ser333Trp)
n.1332-231G>C
c.1178C>G (p.Ser393Trp)
c.1280C>G (p.Ser427Trp)
c.1220C>G (p.Ser407Trp)
n.3607-231G>C
n.4043-231G>C
c.1103C>G (p.Ser368Trp)
c.1121C>G (p.Ser374Trp)
c.878C>G (p.Ser293Trp)
c.911C>G (p.Ser304Trp)
c.929C>G (p.Ser310Trp)
2g.127428495C>TCA114431PROCc.935C>T (p.Ser312Leu)
c.259C>T
c.1037C>T (p.Ser346Leu)
c.1118C>T (p.Ser373Leu)
c.1100C>T (p.Ser367Leu)
c.998C>T (p.Ser333Leu)
n.1332-231G>A
c.1178C>T (p.Ser393Leu)
c.1280C>T (p.Ser427Leu)
c.1220C>T (p.Ser407Leu)
n.3607-231G>A
n.4043-231G>A
c.1103C>T (p.Ser368Leu)
c.1121C>T (p.Ser374Leu)
c.878C>T (p.Ser293Leu)
c.911C>T (p.Ser304Leu)
c.929C>T (p.Ser310Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428496G>ACA1859489PROCc.936G>A (p.Ser312=)
c.260G>A
c.1038G>A (p.Ser346=)
c.1119G>A (p.Ser373=)
c.1101G>A (p.Ser367=)
c.999G>A (p.Ser333=)
n.1332-232C>T
c.1179G>A (p.Ser393=)
c.1281G>A (p.Ser427=)
c.1221G>A (p.Ser407=)
n.3607-232C>T
n.4043-232C>T
c.1104G>A (p.Ser368=)
c.1122G>A (p.Ser374=)
c.879G>A (p.Ser293=)
c.912G>A (p.Ser304=)
c.930G>A (p.Ser310=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428496G>CCA428871534PROCc.936G>C (p.Ser312=)
c.260G>C
c.1038G>C (p.Ser346=)
c.1119G>C (p.Ser373=)
c.1101G>C (p.Ser367=)
c.999G>C (p.Ser333=)
n.1332-232C>G
c.1179G>C (p.Ser393=)
c.1281G>C (p.Ser427=)
c.1221G>C (p.Ser407=)
n.3607-232C>G
n.4043-232C>G
c.1104G>C (p.Ser368=)
c.1122G>C (p.Ser374=)
c.879G>C (p.Ser293=)
c.912G>C (p.Ser304=)
c.930G>C (p.Ser310=)
2g.127428496G=CA1286884501PROCc.936G= (p.Ser312=)
c.260G=
c.1038G= (p.Ser346=)
c.1119G= (p.Ser373=)
c.1101G= (p.Ser367=)
c.999G= (p.Ser333=)
n.1332-232C=
c.1179G= (p.Ser393=)
c.1281G= (p.Ser427=)
c.1221G= (p.Ser407=)
n.3607-232C=
n.4043-232C=
c.1104G= (p.Ser368=)
c.1122G= (p.Ser374=)
c.879G= (p.Ser293=)
c.912G= (p.Ser304=)
c.930G= (p.Ser310=)
2g.127428496G>TCA428871531PROCc.936G>T (p.Ser312=)
c.260G>T
c.1038G>T (p.Ser346=)
c.1119G>T (p.Ser373=)
c.1101G>T (p.Ser367=)
c.999G>T (p.Ser333=)
n.1332-232C>A
c.1179G>T (p.Ser393=)
c.1281G>T (p.Ser427=)
c.1221G>T (p.Ser407=)
n.3607-232C>A
n.4043-232C>A
c.1104G>T (p.Ser368=)
c.1122G>T (p.Ser374=)
c.879G>T (p.Ser293=)
c.912G>T (p.Ser304=)
c.930G>T (p.Ser310=)
2g.127428497C>ACA348404960PROCc.937C>A (p.Gln313Lys)
c.261C>A
c.1039C>A (p.Gln347Lys)
c.1120C>A (p.Gln374Lys)
c.1102C>A (p.Gln368Lys)
c.1000C>A (p.Gln334Lys)
n.1332-233G>T
c.1180C>A (p.Gln394Lys)
c.1282C>A (p.Gln428Lys)
c.1222C>A (p.Gln408Lys)
n.3607-233G>T
n.4043-233G>T
c.1105C>A (p.Gln369Lys)
c.1123C>A (p.Gln375Lys)
c.880C>A (p.Gln294Lys)
c.913C>A (p.Gln305Lys)
c.931C>A (p.Gln311Lys)
2g.127428497C>GCA348404957PROCc.937C>G (p.Gln313Glu)
c.261C>G
c.1039C>G (p.Gln347Glu)
c.1120C>G (p.Gln374Glu)
c.1102C>G (p.Gln368Glu)
c.1000C>G (p.Gln334Glu)
n.1332-233G>C
c.1180C>G (p.Gln394Glu)
c.1282C>G (p.Gln428Glu)
c.1222C>G (p.Gln408Glu)
n.3607-233G>C
n.4043-233G>C
c.1105C>G (p.Gln369Glu)
c.1123C>G (p.Gln375Glu)
c.880C>G (p.Gln294Glu)
c.913C>G (p.Gln305Glu)
c.931C>G (p.Gln311Glu)
2g.127428497C>TCA348404958PROCc.937C>T (p.Gln313Ter)
c.261C>T
c.1039C>T (p.Gln347Ter)
c.1120C>T (p.Gln374Ter)
c.1102C>T (p.Gln368Ter)
c.1000C>T (p.Gln334Ter)
n.1332-233G>A
c.1180C>T (p.Gln394Ter)
c.1282C>T (p.Gln428Ter)
c.1222C>T (p.Gln408Ter)
n.3607-233G>A
n.4043-233G>A
c.1105C>T (p.Gln369Ter)
c.1123C>T (p.Gln375Ter)
c.880C>T (p.Gln294Ter)
c.913C>T (p.Gln305Ter)
c.931C>T (p.Gln311Ter)
 gnomAD v4
2g.127428498A>CCA348404962PROCc.938A>C (p.Gln313Pro)
c.262A>C
c.1040A>C (p.Gln347Pro)
c.1121A>C (p.Gln374Pro)
c.1103A>C (p.Gln368Pro)
c.1001A>C (p.Gln334Pro)
n.1332-234T>G
c.1181A>C (p.Gln394Pro)
c.1283A>C (p.Gln428Pro)
c.1223A>C (p.Gln408Pro)
n.3607-234T>G
n.4043-234T>G
c.1106A>C (p.Gln369Pro)
c.1124A>C (p.Gln375Pro)
c.881A>C (p.Gln294Pro)
c.914A>C (p.Gln305Pro)
c.932A>C (p.Gln311Pro)
2g.127428498A>GCA348404963PROCc.938A>G (p.Gln313Arg)
c.262A>G
c.1040A>G (p.Gln347Arg)
c.1121A>G (p.Gln374Arg)
c.1103A>G (p.Gln368Arg)
c.1001A>G (p.Gln334Arg)
n.1332-234T>C
c.1181A>G (p.Gln394Arg)
c.1283A>G (p.Gln428Arg)
c.1223A>G (p.Gln408Arg)
n.3607-234T>C
n.4043-234T>C
c.1106A>G (p.Gln369Arg)
c.1124A>G (p.Gln375Arg)
c.881A>G (p.Gln294Arg)
c.914A>G (p.Gln305Arg)
c.932A>G (p.Gln311Arg)
2g.127428498A>TCA348404964PROCc.938A>T (p.Gln313Leu)
c.262A>T
c.1040A>T (p.Gln347Leu)
c.1121A>T (p.Gln374Leu)
c.1103A>T (p.Gln368Leu)
c.1001A>T (p.Gln334Leu)
n.1332-234T>A
c.1181A>T (p.Gln394Leu)
c.1283A>T (p.Gln428Leu)
c.1223A>T (p.Gln408Leu)
n.3607-234T>A
n.4043-234T>A
c.1106A>T (p.Gln369Leu)
c.1124A>T (p.Gln375Leu)
c.881A>T (p.Gln294Leu)
c.914A>T (p.Gln305Leu)
c.932A>T (p.Gln311Leu)
2g.127428499G>ACA428871545PROCc.939G>A (p.Gln313=)
c.263G>A
c.1041G>A (p.Gln347=)
c.1122G>A (p.Gln374=)
c.1104G>A (p.Gln368=)
c.1002G>A (p.Gln334=)
n.1332-235C>T
c.1182G>A (p.Gln394=)
c.1284G>A (p.Gln428=)
c.1224G>A (p.Gln408=)
n.3607-235C>T
n.4043-235C>T
c.1107G>A (p.Gln369=)
c.1125G>A (p.Gln375=)
c.882G>A (p.Gln294=)
c.915G>A (p.Gln305=)
c.933G>A (p.Gln311=)
2g.127428499G>CCA348404966PROCc.939G>C (p.Gln313His)
c.263G>C
c.1041G>C (p.Gln347His)
c.1122G>C (p.Gln374His)
c.1104G>C (p.Gln368His)
c.1002G>C (p.Gln334His)
n.1332-235C>G
c.1182G>C (p.Gln394His)
c.1284G>C (p.Gln428His)
c.1224G>C (p.Gln408His)
n.3607-235C>G
n.4043-235C>G
c.1107G>C (p.Gln369His)
c.1125G>C (p.Gln375His)
c.882G>C (p.Gln294His)
c.915G>C (p.Gln305His)
c.933G>C (p.Gln311His)
2g.127428499G>TCA348404968PROCc.939G>T (p.Gln313His)
c.263G>T
c.1041G>T (p.Gln347His)
c.1122G>T (p.Gln374His)
c.1104G>T (p.Gln368His)
c.1002G>T (p.Gln334His)
n.1332-235C>A
c.1182G>T (p.Gln394His)
c.1284G>T (p.Gln428His)
c.1224G>T (p.Gln408His)
n.3607-235C>A
n.4043-235C>A
c.1107G>T (p.Gln369His)
c.1125G>T (p.Gln375His)
c.882G>T (p.Gln294His)
c.915G>T (p.Gln305His)
c.933G>T (p.Gln311His)
2g.127428500A>CCA348404972PROCc.940A>C (p.Thr314Pro)
c.264A>C
c.1042A>C (p.Thr348Pro)
c.1123A>C (p.Thr375Pro)
c.1105A>C (p.Thr369Pro)
c.1003A>C (p.Thr335Pro)
n.1332-236T>G
c.1183A>C (p.Thr395Pro)
c.1285A>C (p.Thr429Pro)
c.1225A>C (p.Thr409Pro)
n.3607-236T>G
n.4043-236T>G
c.1108A>C (p.Thr370Pro)
c.1126A>C (p.Thr376Pro)
c.883A>C (p.Thr295Pro)
c.916A>C (p.Thr306Pro)
c.934A>C (p.Thr312Pro)
2g.127428500A>GCA348404975PROCc.940A>G (p.Thr314Ala)
c.264A>G
c.1042A>G (p.Thr348Ala)
c.1123A>G (p.Thr375Ala)
c.1105A>G (p.Thr369Ala)
c.1003A>G (p.Thr335Ala)
n.1332-236T>C
c.1183A>G (p.Thr395Ala)
c.1285A>G (p.Thr429Ala)
c.1225A>G (p.Thr409Ala)
n.3607-236T>C
n.4043-236T>C
c.1108A>G (p.Thr370Ala)
c.1126A>G (p.Thr376Ala)
c.883A>G (p.Thr295Ala)
c.916A>G (p.Thr306Ala)
c.934A>G (p.Thr312Ala)
2g.127428500A>TCA348404973PROCc.940A>T (p.Thr314Ser)
c.264A>T
c.1042A>T (p.Thr348Ser)
c.1123A>T (p.Thr375Ser)
c.1105A>T (p.Thr369Ser)
c.1003A>T (p.Thr335Ser)
n.1332-236T>A
c.1183A>T (p.Thr395Ser)
c.1285A>T (p.Thr429Ser)
c.1225A>T (p.Thr409Ser)
n.3607-236T>A
n.4043-236T>A
c.1108A>T (p.Thr370Ser)
c.1126A>T (p.Thr376Ser)
c.883A>T (p.Thr295Ser)
c.916A>T (p.Thr306Ser)
c.934A>T (p.Thr312Ser)
2g.127428501C>ACA348404976PROCc.941C>A (p.Thr314Asn)
c.265C>A
c.1043C>A (p.Thr348Asn)
c.1124C>A (p.Thr375Asn)
c.1106C>A (p.Thr369Asn)
c.1004C>A (p.Thr335Asn)
n.1332-237G>T
c.1184C>A (p.Thr395Asn)
c.1286C>A (p.Thr429Asn)
c.1226C>A (p.Thr409Asn)
n.3607-237G>T
n.4043-237G>T
c.1109C>A (p.Thr370Asn)
c.1127C>A (p.Thr376Asn)
c.884C>A (p.Thr295Asn)
c.917C>A (p.Thr306Asn)
c.935C>A (p.Thr312Asn)
2g.127428501C>GCA348404977PROCc.941C>G (p.Thr314Ser)
c.265C>G
c.1043C>G (p.Thr348Ser)
c.1124C>G (p.Thr375Ser)
c.1106C>G (p.Thr369Ser)
c.1004C>G (p.Thr335Ser)
n.1332-237G>C
c.1184C>G (p.Thr395Ser)
c.1286C>G (p.Thr429Ser)
c.1226C>G (p.Thr409Ser)
n.3607-237G>C
n.4043-237G>C
c.1109C>G (p.Thr370Ser)
c.1127C>G (p.Thr376Ser)
c.884C>G (p.Thr295Ser)
c.917C>G (p.Thr306Ser)
c.935C>G (p.Thr312Ser)
2g.127428501C>TCA348404978PROCc.941C>T (p.Thr314Ile)
c.265C>T
c.1043C>T (p.Thr348Ile)
c.1124C>T (p.Thr375Ile)
c.1106C>T (p.Thr369Ile)
c.1004C>T (p.Thr335Ile)
n.1332-237G>A
c.1184C>T (p.Thr395Ile)
c.1286C>T (p.Thr429Ile)
c.1226C>T (p.Thr409Ile)
n.3607-237G>A
n.4043-237G>A
c.1109C>T (p.Thr370Ile)
c.1127C>T (p.Thr376Ile)
c.884C>T (p.Thr295Ile)
c.917C>T (p.Thr306Ile)
c.935C>T (p.Thr312Ile)
2g.127428502C>ACA428871558PROCc.942C>A (p.Thr314=)
c.266C>A
c.1044C>A (p.Thr348=)
c.1125C>A (p.Thr375=)
c.1107C>A (p.Thr369=)
c.1005C>A (p.Thr335=)
n.1332-238G>T
c.1185C>A (p.Thr395=)
c.1287C>A (p.Thr429=)
c.1227C>A (p.Thr409=)
n.3607-238G>T
n.4043-238G>T
c.1110C>A (p.Thr370=)
c.1128C>A (p.Thr376=)
c.885C>A (p.Thr295=)
c.918C>A (p.Thr306=)
c.936C>A (p.Thr312=)
2g.127428502C=CA1286884502PROCc.942C= (p.Thr314=)
c.266C=
c.1044C= (p.Thr348=)
c.1125C= (p.Thr375=)
c.1107C= (p.Thr369=)
c.1005C= (p.Thr335=)
n.1332-238G=
c.1185C= (p.Thr395=)
c.1287C= (p.Thr429=)
c.1227C= (p.Thr409=)
n.3607-238G=
n.4043-238G=
c.1110C= (p.Thr370=)
c.1128C= (p.Thr376=)
c.885C= (p.Thr295=)
c.918C= (p.Thr306=)
c.936C= (p.Thr312=)
2g.127428502C>GCA1859490PROCc.942C>G (p.Thr314=)
c.266C>G
c.1044C>G (p.Thr348=)
c.1125C>G (p.Thr375=)
c.1107C>G (p.Thr369=)
c.1005C>G (p.Thr335=)
n.1332-238G>C
c.1185C>G (p.Thr395=)
c.1287C>G (p.Thr429=)
c.1227C>G (p.Thr409=)
n.3607-238G>C
n.4043-238G>C
c.1110C>G (p.Thr370=)
c.1128C>G (p.Thr376=)
c.885C>G (p.Thr295=)
c.918C>G (p.Thr306=)
c.936C>G (p.Thr312=)
 dbSNP ExAC gnomAD v2
2g.127428502C>TCA428871561PROCc.942C>T (p.Thr314=)
c.266C>T
c.1044C>T (p.Thr348=)
c.1125C>T (p.Thr375=)
c.1107C>T (p.Thr369=)
c.1005C>T (p.Thr335=)
n.1332-238G>A
c.1185C>T (p.Thr395=)
c.1287C>T (p.Thr429=)
c.1227C>T (p.Thr409=)
n.3607-238G>A
n.4043-238G>A
c.1110C>T (p.Thr370=)
c.1128C>T (p.Thr376=)
c.885C>T (p.Thr295=)
c.918C>T (p.Thr306=)
c.936C>T (p.Thr312=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428503A>CCA348404980PROCc.943A>C (p.Ile315Leu)
c.267A>C
c.1045A>C (p.Ile349Leu)
c.1126A>C (p.Ile376Leu)
c.1108A>C (p.Ile370Leu)
c.1006A>C (p.Ile336Leu)
n.1332-239T>G
c.1186A>C (p.Ile396Leu)
c.1288A>C (p.Ile430Leu)
c.1228A>C (p.Ile410Leu)
n.3607-239T>G
n.4043-239T>G
c.1111A>C (p.Ile371Leu)
c.1129A>C (p.Ile377Leu)
c.886A>C (p.Ile296Leu)
c.919A>C (p.Ile307Leu)
c.937A>C (p.Ile313Leu)
2g.127428503A>GCA348404984PROCc.943A>G (p.Ile315Val)
c.267A>G
c.1045A>G (p.Ile349Val)
c.1126A>G (p.Ile376Val)
c.1108A>G (p.Ile370Val)
c.1006A>G (p.Ile336Val)
n.1332-239T>C
c.1186A>G (p.Ile396Val)
c.1288A>G (p.Ile430Val)
c.1228A>G (p.Ile410Val)
n.3607-239T>C
n.4043-239T>C
c.1111A>G (p.Ile371Val)
c.1129A>G (p.Ile377Val)
c.886A>G (p.Ile296Val)
c.919A>G (p.Ile307Val)
c.937A>G (p.Ile313Val)
2g.127428503A>TCA348404981PROCc.943A>T (p.Ile315Leu)
c.267A>T
c.1045A>T (p.Ile349Leu)
c.1126A>T (p.Ile376Leu)
c.1108A>T (p.Ile370Leu)
c.1006A>T (p.Ile336Leu)
n.1332-239T>A
c.1186A>T (p.Ile396Leu)
c.1288A>T (p.Ile430Leu)
c.1228A>T (p.Ile410Leu)
n.3607-239T>A
n.4043-239T>A
c.1111A>T (p.Ile371Leu)
c.1129A>T (p.Ile377Leu)
c.886A>T (p.Ile296Leu)
c.919A>T (p.Ile307Leu)
c.937A>T (p.Ile313Leu)
2g.127428504T>ACA348404990PROCc.944T>A (p.Ile315Lys)
c.268T>A
c.1046T>A (p.Ile349Lys)
c.1127T>A (p.Ile376Lys)
c.1109T>A (p.Ile370Lys)
c.1007T>A (p.Ile336Lys)
n.1332-240A>T
c.1187T>A (p.Ile396Lys)
c.1289T>A (p.Ile430Lys)
c.1229T>A (p.Ile410Lys)
n.3607-240A>T
n.4043-240A>T
c.1112T>A (p.Ile371Lys)
c.1130T>A (p.Ile377Lys)
c.887T>A (p.Ile296Lys)
c.920T>A (p.Ile307Lys)
c.938T>A (p.Ile313Lys)
2g.127428504T>CCA348404992PROCc.944T>C (p.Ile315Thr)
c.268T>C
c.1046T>C (p.Ile349Thr)
c.1127T>C (p.Ile376Thr)
c.1109T>C (p.Ile370Thr)
c.1007T>C (p.Ile336Thr)
n.1332-240A>G
c.1187T>C (p.Ile396Thr)
c.1289T>C (p.Ile430Thr)
c.1229T>C (p.Ile410Thr)
n.3607-240A>G
n.4043-240A>G
c.1112T>C (p.Ile371Thr)
c.1130T>C (p.Ile377Thr)
c.887T>C (p.Ile296Thr)
c.920T>C (p.Ile307Thr)
c.938T>C (p.Ile313Thr)
2g.127428504T>GCA348404993PROCc.944T>G (p.Ile315Arg)
c.268T>G
c.1046T>G (p.Ile349Arg)
c.1127T>G (p.Ile376Arg)
c.1109T>G (p.Ile370Arg)
c.1007T>G (p.Ile336Arg)
n.1332-240A>C
c.1187T>G (p.Ile396Arg)
c.1289T>G (p.Ile430Arg)
c.1229T>G (p.Ile410Arg)
n.3607-240A>C
n.4043-240A>C
c.1112T>G (p.Ile371Arg)
c.1130T>G (p.Ile377Arg)
c.887T>G (p.Ile296Arg)
c.920T>G (p.Ile307Arg)
c.938T>G (p.Ile313Arg)
2g.127428505A=CA1286884503PROCc.945A= (p.Ile315=)
c.269A=
c.1047A= (p.Ile349=)
c.1128A= (p.Ile376=)
c.1110A= (p.Ile370=)
c.1008A= (p.Ile336=)
n.1332-241T=
c.1188A= (p.Ile396=)
c.1290A= (p.Ile430=)
c.1230A= (p.Ile410=)
n.3607-241T=
n.4043-241T=
c.1113A= (p.Ile371=)
c.1131A= (p.Ile377=)
c.888A= (p.Ile296=)
c.921A= (p.Ile307=)
c.939A= (p.Ile313=)
2g.127428505A>CCA428871573PROCc.945A>C (p.Ile315=)
c.269A>C
c.1047A>C (p.Ile349=)
c.1128A>C (p.Ile376=)
c.1110A>C (p.Ile370=)
c.1008A>C (p.Ile336=)
n.1332-241T>G
c.1188A>C (p.Ile396=)
c.1290A>C (p.Ile430=)
c.1230A>C (p.Ile410=)
n.3607-241T>G
n.4043-241T>G
c.1113A>C (p.Ile371=)
c.1131A>C (p.Ile377=)
c.888A>C (p.Ile296=)
c.921A>C (p.Ile307=)
c.939A>C (p.Ile313=)
2g.127428505A>GCA348404995PROCc.945A>G (p.Ile315Met)
c.269A>G
c.1047A>G (p.Ile349Met)
c.1128A>G (p.Ile376Met)
c.1110A>G (p.Ile370Met)
c.1008A>G (p.Ile336Met)
n.1332-241T>C
c.1188A>G (p.Ile396Met)
c.1290A>G (p.Ile430Met)
c.1230A>G (p.Ile410Met)
n.3607-241T>C
n.4043-241T>C
c.1113A>G (p.Ile371Met)
c.1131A>G (p.Ile377Met)
c.888A>G (p.Ile296Met)
c.921A>G (p.Ile307Met)
c.939A>G (p.Ile313Met)
 ClinVar dbSNP
2g.127428505A>TCA428871576PROCc.945A>T (p.Ile315=)
c.269A>T
c.1047A>T (p.Ile349=)
c.1128A>T (p.Ile376=)
c.1110A>T (p.Ile370=)
c.1008A>T (p.Ile336=)
n.1332-241T>A
c.1188A>T (p.Ile396=)
c.1290A>T (p.Ile430=)
c.1230A>T (p.Ile410=)
n.3607-241T>A
n.4043-241T>A
c.1113A>T (p.Ile371=)
c.1131A>T (p.Ile377=)
c.888A>T (p.Ile296=)
c.921A>T (p.Ile307=)
c.939A>T (p.Ile313=)
2g.127428506G>ACA55350797PROCc.946G>A (p.Val316Met)
c.270G>A
c.1048G>A (p.Val350Met)
c.1129G>A (p.Val377Met)
c.1111G>A (p.Val371Met)
c.1009G>A (p.Val337Met)
n.1332-242C>T
c.1189G>A (p.Val397Met)
c.1291G>A (p.Val431Met)
c.1231G>A (p.Val411Met)
n.3607-242C>T
n.4043-242C>T
c.1114G>A (p.Val372Met)
c.1132G>A (p.Val378Met)
c.889G>A (p.Val297Met)
c.922G>A (p.Val308Met)
c.940G>A (p.Val314Met)
 dbSNP gnomAD v2 gnomAD v4
2g.127428506G>CCA348404998PROCc.946G>C (p.Val316Leu)
c.270G>C
c.1048G>C (p.Val350Leu)
c.1129G>C (p.Val377Leu)
c.1111G>C (p.Val371Leu)
c.1009G>C (p.Val337Leu)
n.1332-242C>G
c.1189G>C (p.Val397Leu)
c.1291G>C (p.Val431Leu)
c.1231G>C (p.Val411Leu)
n.3607-242C>G
n.4043-242C>G
c.1114G>C (p.Val372Leu)
c.1132G>C (p.Val378Leu)
c.889G>C (p.Val297Leu)
c.922G>C (p.Val308Leu)
c.940G>C (p.Val314Leu)
 gnomAD v4
2g.127428506G=CA1286884504PROCc.946G= (p.Val316=)
c.270G=
c.1048G= (p.Val350=)
c.1129G= (p.Val377=)
c.1111G= (p.Val371=)
c.1009G= (p.Val337=)
n.1332-242C=
c.1189G= (p.Val397=)
c.1291G= (p.Val431=)
c.1231G= (p.Val411=)
n.3607-242C=
n.4043-242C=
c.1114G= (p.Val372=)
c.1132G= (p.Val378=)
c.889G= (p.Val297=)
c.922G= (p.Val308=)
c.940G= (p.Val314=)
2g.127428506G>TCA348404999PROCc.946G>T (p.Val316Leu)
c.270G>T
c.1048G>T (p.Val350Leu)
c.1129G>T (p.Val377Leu)
c.1111G>T (p.Val371Leu)
c.1009G>T (p.Val337Leu)
n.1332-242C>A
c.1189G>T (p.Val397Leu)
c.1291G>T (p.Val431Leu)
c.1231G>T (p.Val411Leu)
n.3607-242C>A
n.4043-242C>A
c.1114G>T (p.Val372Leu)
c.1132G>T (p.Val378Leu)
c.889G>T (p.Val297Leu)
c.922G>T (p.Val308Leu)
c.940G>T (p.Val314Leu)
2g.127428507T>ACA348405002PROCc.947T>A (p.Val316Glu)
c.271T>A
c.1049T>A (p.Val350Glu)
c.1130T>A (p.Val377Glu)
c.1112T>A (p.Val371Glu)
c.1010T>A (p.Val337Glu)
n.1332-243A>T
c.1190T>A (p.Val397Glu)
c.1292T>A (p.Val431Glu)
c.1232T>A (p.Val411Glu)
n.3607-243A>T
n.4043-243A>T
c.1115T>A (p.Val372Glu)
c.1133T>A (p.Val378Glu)
c.890T>A (p.Val297Glu)
c.923T>A (p.Val308Glu)
c.941T>A (p.Val314Glu)
2g.127428507T>CCA348405005PROCc.947T>C (p.Val316Ala)
c.271T>C
c.1049T>C (p.Val350Ala)
c.1130T>C (p.Val377Ala)
c.1112T>C (p.Val371Ala)
c.1010T>C (p.Val337Ala)
n.1332-243A>G
c.1190T>C (p.Val397Ala)
c.1292T>C (p.Val431Ala)
c.1232T>C (p.Val411Ala)
n.3607-243A>G
n.4043-243A>G
c.1115T>C (p.Val372Ala)
c.1133T>C (p.Val378Ala)
c.890T>C (p.Val297Ala)
c.923T>C (p.Val308Ala)
c.941T>C (p.Val314Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428507T>GCA348405007PROCc.947T>G (p.Val316Gly)
c.271T>G
c.1049T>G (p.Val350Gly)
c.1130T>G (p.Val377Gly)
c.1112T>G (p.Val371Gly)
c.1010T>G (p.Val337Gly)
n.1332-243A>C
c.1190T>G (p.Val397Gly)
c.1292T>G (p.Val431Gly)
c.1232T>G (p.Val411Gly)
n.3607-243A>C
n.4043-243A>C
c.1115T>G (p.Val372Gly)
c.1133T>G (p.Val378Gly)
c.890T>G (p.Val297Gly)
c.923T>G (p.Val308Gly)
c.941T>G (p.Val314Gly)
2g.127428507T=CA1286884505PROCc.947T= (p.Val316=)
c.271T=
c.1049T= (p.Val350=)
c.1130T= (p.Val377=)
c.1112T= (p.Val371=)
c.1010T= (p.Val337=)
n.1332-243A=
c.1190T= (p.Val397=)
c.1292T= (p.Val431=)
c.1232T= (p.Val411=)
n.3607-243A=
n.4043-243A=
c.1115T= (p.Val372=)
c.1133T= (p.Val378=)
c.890T= (p.Val297=)
c.923T= (p.Val308=)
c.941T= (p.Val314=)
2g.127428508G>ACA428871584PROCc.948G>A (p.Val316=)
c.272G>A
c.1050G>A (p.Val350=)
c.1131G>A (p.Val377=)
c.1113G>A (p.Val371=)
c.1011G>A (p.Val337=)
n.1332-244C>T
c.1191G>A (p.Val397=)
c.1293G>A (p.Val431=)
c.1233G>A (p.Val411=)
n.3607-244C>T
n.4043-244C>T
c.1116G>A (p.Val372=)
c.1134G>A (p.Val378=)
c.891G>A (p.Val297=)
c.924G>A (p.Val308=)
c.942G>A (p.Val314=)
2g.127428508G>CCA428871585PROCc.948G>C (p.Val316=)
c.272G>C
c.1050G>C (p.Val350=)
c.1131G>C (p.Val377=)
c.1113G>C (p.Val371=)
c.1011G>C (p.Val337=)
n.1332-244C>G
c.1191G>C (p.Val397=)
c.1293G>C (p.Val431=)
c.1233G>C (p.Val411=)
n.3607-244C>G
n.4043-244C>G
c.1116G>C (p.Val372=)
c.1134G>C (p.Val378=)
c.891G>C (p.Val297=)
c.924G>C (p.Val308=)
c.942G>C (p.Val314=)
2g.127428508G>TCA428871587PROCc.948G>T (p.Val316=)
c.272G>T
c.1050G>T (p.Val350=)
c.1131G>T (p.Val377=)
c.1113G>T (p.Val371=)
c.1011G>T (p.Val337=)
n.1332-244C>A
c.1191G>T (p.Val397=)
c.1293G>T (p.Val431=)
c.1233G>T (p.Val411=)
n.3607-244C>A
n.4043-244C>A
c.1116G>T (p.Val372=)
c.1134G>T (p.Val378=)
c.891G>T (p.Val297=)
c.924G>T (p.Val308=)
c.942G>T (p.Val314=)
2g.127428509C>ACA348405012PROCc.949C>A (p.Pro317Thr)
c.273C>A
c.1051C>A (p.Pro351Thr)
c.1132C>A (p.Pro378Thr)
c.1114C>A (p.Pro372Thr)
c.1012C>A (p.Pro338Thr)
n.1332-245G>T
c.1192C>A (p.Pro398Thr)
c.1294C>A (p.Pro432Thr)
c.1234C>A (p.Pro412Thr)
n.3607-245G>T
n.4043-245G>T
c.1117C>A (p.Pro373Thr)
c.1135C>A (p.Pro379Thr)
c.892C>A (p.Pro298Thr)
c.925C>A (p.Pro309Thr)
c.943C>A (p.Pro315Thr)
2g.127428509C>GCA348405009PROCc.949C>G (p.Pro317Ala)
c.273C>G
c.1051C>G (p.Pro351Ala)
c.1132C>G (p.Pro378Ala)
c.1114C>G (p.Pro372Ala)
c.1012C>G (p.Pro338Ala)
n.1332-245G>C
c.1192C>G (p.Pro398Ala)
c.1294C>G (p.Pro432Ala)
c.1234C>G (p.Pro412Ala)
n.3607-245G>C
n.4043-245G>C
c.1117C>G (p.Pro373Ala)
c.1135C>G (p.Pro379Ala)
c.892C>G (p.Pro298Ala)
c.925C>G (p.Pro309Ala)
c.943C>G (p.Pro315Ala)
2g.127428509C>TCA348405008PROCc.949C>T (p.Pro317Ser)
c.273C>T
c.1051C>T (p.Pro351Ser)
c.1132C>T (p.Pro378Ser)
c.1114C>T (p.Pro372Ser)
c.1012C>T (p.Pro338Ser)
n.1332-245G>A
c.1192C>T (p.Pro398Ser)
c.1294C>T (p.Pro432Ser)
c.1234C>T (p.Pro412Ser)
n.3607-245G>A
n.4043-245G>A
c.1117C>T (p.Pro373Ser)
c.1135C>T (p.Pro379Ser)
c.892C>T (p.Pro298Ser)
c.925C>T (p.Pro309Ser)
c.943C>T (p.Pro315Ser)
2g.127428510C>ACA348405017PROCc.950C>A (p.Pro317His)
c.274C>A
c.1052C>A (p.Pro351His)
c.1133C>A (p.Pro378His)
c.1115C>A (p.Pro372His)
c.1013C>A (p.Pro338His)
n.1332-246G>T
c.1193C>A (p.Pro398His)
c.1295C>A (p.Pro432His)
c.1235C>A (p.Pro412His)
n.3607-246G>T
n.4043-246G>T
c.1118C>A (p.Pro373His)
c.1136C>A (p.Pro379His)
c.893C>A (p.Pro298His)
c.926C>A (p.Pro309His)
c.944C>A (p.Pro315His)
2g.127428510C>GCA348405025PROCc.950C>G (p.Pro317Arg)
c.274C>G
c.1052C>G (p.Pro351Arg)
c.1133C>G (p.Pro378Arg)
c.1115C>G (p.Pro372Arg)
c.1013C>G (p.Pro338Arg)
n.1332-246G>C
c.1193C>G (p.Pro398Arg)
c.1295C>G (p.Pro432Arg)
c.1235C>G (p.Pro412Arg)
n.3607-246G>C
n.4043-246G>C
c.1118C>G (p.Pro373Arg)
c.1136C>G (p.Pro379Arg)
c.893C>G (p.Pro298Arg)
c.926C>G (p.Pro309Arg)
c.944C>G (p.Pro315Arg)
2g.127428510C>TCA348405020PROCc.950C>T (p.Pro317Leu)
c.274C>T
c.1052C>T (p.Pro351Leu)
c.1133C>T (p.Pro378Leu)
c.1115C>T (p.Pro372Leu)
c.1013C>T (p.Pro338Leu)
n.1332-246G>A
c.1193C>T (p.Pro398Leu)
c.1295C>T (p.Pro432Leu)
c.1235C>T (p.Pro412Leu)
n.3607-246G>A
n.4043-246G>A
c.1118C>T (p.Pro373Leu)
c.1136C>T (p.Pro379Leu)
c.893C>T (p.Pro298Leu)
c.926C>T (p.Pro309Leu)
c.944C>T (p.Pro315Leu)
2g.127428511C>ACA1859491PROCc.951C>A (p.Pro317=)
c.275C>A
c.1053C>A (p.Pro351=)
c.1134C>A (p.Pro378=)
c.1116C>A (p.Pro372=)
c.1014C>A (p.Pro338=)
n.1332-247G>T
c.1194C>A (p.Pro398=)
c.1296C>A (p.Pro432=)
c.1236C>A (p.Pro412=)
n.3607-247G>T
n.4043-247G>T
c.1119C>A (p.Pro373=)
c.1137C>A (p.Pro379=)
c.894C>A (p.Pro298=)
c.927C>A (p.Pro309=)
c.945C>A (p.Pro315=)
 dbSNP ExAC
2g.127428511C=CA1286884506PROCc.951C= (p.Pro317=)
c.275C=
c.1053C= (p.Pro351=)
c.1134C= (p.Pro378=)
c.1116C= (p.Pro372=)
c.1014C= (p.Pro338=)
n.1332-247G=
c.1194C= (p.Pro398=)
c.1296C= (p.Pro432=)
c.1236C= (p.Pro412=)
n.3607-247G=
n.4043-247G=
c.1119C= (p.Pro373=)
c.1137C= (p.Pro379=)
c.894C= (p.Pro298=)
c.927C= (p.Pro309=)
c.945C= (p.Pro315=)
2g.127428511C>GCA428871601PROCc.951C>G (p.Pro317=)
c.275C>G
c.1053C>G (p.Pro351=)
c.1134C>G (p.Pro378=)
c.1116C>G (p.Pro372=)
c.1014C>G (p.Pro338=)
n.1332-247G>C
c.1194C>G (p.Pro398=)
c.1296C>G (p.Pro432=)
c.1236C>G (p.Pro412=)
n.3607-247G>C
n.4043-247G>C
c.1119C>G (p.Pro373=)
c.1137C>G (p.Pro379=)
c.894C>G (p.Pro298=)
c.927C>G (p.Pro309=)
c.945C>G (p.Pro315=)
2g.127428511C>TCA428871599PROCc.951C>T (p.Pro317=)
c.275C>T
c.1053C>T (p.Pro351=)
c.1134C>T (p.Pro378=)
c.1116C>T (p.Pro372=)
c.1014C>T (p.Pro338=)
n.1332-247G>A
c.1194C>T (p.Pro398=)
c.1296C>T (p.Pro432=)
c.1236C>T (p.Pro412=)
n.3607-247G>A
n.4043-247G>A
c.1119C>T (p.Pro373=)
c.1137C>T (p.Pro379=)
c.894C>T (p.Pro298=)
c.927C>T (p.Pro309=)
c.945C>T (p.Pro315=)
2g.127428512A>CCA348405027PROCc.952A>C (p.Ile318Leu)
c.276A>C
c.1054A>C (p.Ile352Leu)
c.1135A>C (p.Ile379Leu)
c.1117A>C (p.Ile373Leu)
c.1015A>C (p.Ile339Leu)
n.1332-248T>G
c.1195A>C (p.Ile399Leu)
c.1297A>C (p.Ile433Leu)
c.1237A>C (p.Ile413Leu)
n.3607-248T>G
n.4043-248T>G
c.1120A>C (p.Ile374Leu)
c.1138A>C (p.Ile380Leu)
c.895A>C (p.Ile299Leu)
c.928A>C (p.Ile310Leu)
c.946A>C (p.Ile316Leu)
2g.127428512A>GCA348405030PROCc.952A>G (p.Ile318Val)
c.276A>G
c.1054A>G (p.Ile352Val)
c.1135A>G (p.Ile379Val)
c.1117A>G (p.Ile373Val)
c.1015A>G (p.Ile339Val)
n.1332-248T>C
c.1195A>G (p.Ile399Val)
c.1297A>G (p.Ile433Val)
c.1237A>G (p.Ile413Val)
n.3607-248T>C
n.4043-248T>C
c.1120A>G (p.Ile374Val)
c.1138A>G (p.Ile380Val)
c.895A>G (p.Ile299Val)
c.928A>G (p.Ile310Val)
c.946A>G (p.Ile316Val)
2g.127428512A>TCA348405031PROCc.952A>T (p.Ile318Phe)
c.276A>T
c.1054A>T (p.Ile352Phe)
c.1135A>T (p.Ile379Phe)
c.1117A>T (p.Ile373Phe)
c.1015A>T (p.Ile339Phe)
n.1332-248T>A
c.1195A>T (p.Ile399Phe)
c.1297A>T (p.Ile433Phe)
c.1237A>T (p.Ile413Phe)
n.3607-248T>A
n.4043-248T>A
c.1120A>T (p.Ile374Phe)
c.1138A>T (p.Ile380Phe)
c.895A>T (p.Ile299Phe)
c.928A>T (p.Ile310Phe)
c.946A>T (p.Ile316Phe)
2g.127428513T>ACA348405043PROCc.953T>A (p.Ile318Asn)
c.277T>A
c.1055T>A (p.Ile352Asn)
c.1136T>A (p.Ile379Asn)
c.1118T>A (p.Ile373Asn)
c.1016T>A (p.Ile339Asn)
n.1332-249A>T
c.1196T>A (p.Ile399Asn)
c.1298T>A (p.Ile433Asn)
c.1238T>A (p.Ile413Asn)
n.3607-249A>T
n.4043-249A>T
c.1121T>A (p.Ile374Asn)
c.1139T>A (p.Ile380Asn)
c.896T>A (p.Ile299Asn)
c.929T>A (p.Ile310Asn)
c.947T>A (p.Ile316Asn)
2g.127428513T>CCA348405046PROCc.953T>C (p.Ile318Thr)
c.277T>C
c.1055T>C (p.Ile352Thr)
c.1136T>C (p.Ile379Thr)
c.1118T>C (p.Ile373Thr)
c.1016T>C (p.Ile339Thr)
n.1332-249A>G
c.1196T>C (p.Ile399Thr)
c.1298T>C (p.Ile433Thr)
c.1238T>C (p.Ile413Thr)
n.3607-249A>G
n.4043-249A>G
c.1121T>C (p.Ile374Thr)
c.1139T>C (p.Ile380Thr)
c.896T>C (p.Ile299Thr)
c.929T>C (p.Ile310Thr)
c.947T>C (p.Ile316Thr)
2g.127428513T>GCA348405048PROCc.953T>G (p.Ile318Ser)
c.277T>G
c.1055T>G (p.Ile352Ser)
c.1136T>G (p.Ile379Ser)
c.1118T>G (p.Ile373Ser)
c.1016T>G (p.Ile339Ser)
n.1332-249A>C
c.1196T>G (p.Ile399Ser)
c.1298T>G (p.Ile433Ser)
c.1238T>G (p.Ile413Ser)
n.3607-249A>C
n.4043-249A>C
c.1121T>G (p.Ile374Ser)
c.1139T>G (p.Ile380Ser)
c.896T>G (p.Ile299Ser)
c.929T>G (p.Ile310Ser)
c.947T>G (p.Ile316Ser)
2g.127428514C>ACA428871613PROCc.954C>A (p.Ile318=)
c.278C>A
c.1056C>A (p.Ile352=)
c.1137C>A (p.Ile379=)
c.1119C>A (p.Ile373=)
c.1017C>A (p.Ile339=)
n.1332-250G>T
c.1197C>A (p.Ile399=)
c.1299C>A (p.Ile433=)
c.1239C>A (p.Ile413=)
n.3607-250G>T
n.4043-250G>T
c.1122C>A (p.Ile374=)
c.1140C>A (p.Ile380=)
c.897C>A (p.Ile299=)
c.930C>A (p.Ile310=)
c.948C>A (p.Ile316=)
2g.127428514C>GCA348405050PROCc.954C>G (p.Ile318Met)
c.278C>G
c.1056C>G (p.Ile352Met)
c.1137C>G (p.Ile379Met)
c.1119C>G (p.Ile373Met)
c.1017C>G (p.Ile339Met)
n.1332-250G>C
c.1197C>G (p.Ile399Met)
c.1299C>G (p.Ile433Met)
c.1239C>G (p.Ile413Met)
n.3607-250G>C
n.4043-250G>C
c.1122C>G (p.Ile374Met)
c.1140C>G (p.Ile380Met)
c.897C>G (p.Ile299Met)
c.930C>G (p.Ile310Met)
c.948C>G (p.Ile316Met)
2g.127428514C>TCA428871617PROCc.954C>T (p.Ile318=)
c.278C>T
c.1056C>T (p.Ile352=)
c.1137C>T (p.Ile379=)
c.1119C>T (p.Ile373=)
c.1017C>T (p.Ile339=)
n.1332-250G>A
c.1197C>T (p.Ile399=)
c.1299C>T (p.Ile433=)
c.1239C>T (p.Ile413=)
n.3607-250G>A
n.4043-250G>A
c.1122C>T (p.Ile374=)
c.1140C>T (p.Ile380=)
c.897C>T (p.Ile299=)
c.930C>T (p.Ile310=)
c.948C>T (p.Ile316=)
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.127428515T>ACA348405052PROCc.955T>A (p.Cys319Ser)
c.279T>A
c.1057T>A (p.Cys353Ser)
c.1138T>A (p.Cys380Ser)
c.1120T>A (p.Cys374Ser)
c.1018T>A (p.Cys340Ser)
n.1332-251A>T
c.1198T>A (p.Cys400Ser)
c.1300T>A (p.Cys434Ser)
c.1240T>A (p.Cys414Ser)
n.3607-251A>T
n.4043-251A>T
c.1123T>A (p.Cys375Ser)
c.1141T>A (p.Cys381Ser)
c.898T>A (p.Cys300Ser)
c.931T>A (p.Cys311Ser)
c.949T>A (p.Cys317Ser)
2g.127428515T>CCA348405055PROCc.955T>C (p.Cys319Arg)
c.279T>C
c.1057T>C (p.Cys353Arg)
c.1138T>C (p.Cys380Arg)
c.1120T>C (p.Cys374Arg)
c.1018T>C (p.Cys340Arg)
n.1332-251A>G
c.1198T>C (p.Cys400Arg)
c.1300T>C (p.Cys434Arg)
c.1240T>C (p.Cys414Arg)
n.3607-251A>G
n.4043-251A>G
c.1123T>C (p.Cys375Arg)
c.1141T>C (p.Cys381Arg)
c.898T>C (p.Cys300Arg)
c.931T>C (p.Cys311Arg)
c.949T>C (p.Cys317Arg)
2g.127428515T>GCA348405058PROCc.955T>G (p.Cys319Gly)
c.279T>G
c.1057T>G (p.Cys353Gly)
c.1138T>G (p.Cys380Gly)
c.1120T>G (p.Cys374Gly)
c.1018T>G (p.Cys340Gly)
n.1332-251A>C
c.1198T>G (p.Cys400Gly)
c.1300T>G (p.Cys434Gly)
c.1240T>G (p.Cys414Gly)
n.3607-251A>C
n.4043-251A>C
c.1123T>G (p.Cys375Gly)
c.1141T>G (p.Cys381Gly)
c.898T>G (p.Cys300Gly)
c.931T>G (p.Cys311Gly)
c.949T>G (p.Cys317Gly)
2g.127428516G>ACA348405067PROCc.956G>A (p.Cys319Tyr)
c.280G>A
c.1058G>A (p.Cys353Tyr)
c.1139G>A (p.Cys380Tyr)
c.1121G>A (p.Cys374Tyr)
c.1019G>A (p.Cys340Tyr)
n.1332-252C>T
c.1199G>A (p.Cys400Tyr)
c.1301G>A (p.Cys434Tyr)
c.1241G>A (p.Cys414Tyr)
n.3607-252C>T
n.4043-252C>T
c.1124G>A (p.Cys375Tyr)
c.1142G>A (p.Cys381Tyr)
c.899G>A (p.Cys300Tyr)
c.932G>A (p.Cys311Tyr)
c.950G>A (p.Cys317Tyr)
2g.127428516G>CCA348405061PROCc.956G>C (p.Cys319Ser)
c.280G>C
c.1058G>C (p.Cys353Ser)
c.1139G>C (p.Cys380Ser)
c.1121G>C (p.Cys374Ser)
c.1019G>C (p.Cys340Ser)
n.1332-252C>G
c.1199G>C (p.Cys400Ser)
c.1301G>C (p.Cys434Ser)
c.1241G>C (p.Cys414Ser)
n.3607-252C>G
n.4043-252C>G
c.1124G>C (p.Cys375Ser)
c.1142G>C (p.Cys381Ser)
c.899G>C (p.Cys300Ser)
c.932G>C (p.Cys311Ser)
c.950G>C (p.Cys317Ser)
2g.127428516G>TCA348405063PROCc.956G>T (p.Cys319Phe)
c.280G>T
c.1058G>T (p.Cys353Phe)
c.1139G>T (p.Cys380Phe)
c.1121G>T (p.Cys374Phe)
c.1019G>T (p.Cys340Phe)
n.1332-252C>A
c.1199G>T (p.Cys400Phe)
c.1301G>T (p.Cys434Phe)
c.1241G>T (p.Cys414Phe)
n.3607-252C>A
n.4043-252C>A
c.1124G>T (p.Cys375Phe)
c.1142G>T (p.Cys381Phe)
c.899G>T (p.Cys300Phe)
c.932G>T (p.Cys311Phe)
c.950G>T (p.Cys317Phe)
2g.127428517C>ACA348405071PROCc.957C>A (p.Cys319Ter)
c.281C>A
c.1059C>A (p.Cys353Ter)
c.1140C>A (p.Cys380Ter)
c.1122C>A (p.Cys374Ter)
c.1020C>A (p.Cys340Ter)
n.1332-253G>T
c.1200C>A (p.Cys400Ter)
c.1302C>A (p.Cys434Ter)
c.1242C>A (p.Cys414Ter)
n.3607-253G>T
n.4043-253G>T
c.1125C>A (p.Cys375Ter)
c.1143C>A (p.Cys381Ter)
c.900C>A (p.Cys300Ter)
c.933C>A (p.Cys311Ter)
c.951C>A (p.Cys317Ter)
2g.127428517C=CA1286884507PROCc.957C= (p.Cys319=)
c.281C=
c.1059C= (p.Cys353=)
c.1140C= (p.Cys380=)
c.1122C= (p.Cys374=)
c.1020C= (p.Cys340=)
n.1332-253G=
c.1200C= (p.Cys400=)
c.1302C= (p.Cys434=)
c.1242C= (p.Cys414=)
n.3607-253G=
n.4043-253G=
c.1125C= (p.Cys375=)
c.1143C= (p.Cys381=)
c.900C= (p.Cys300=)
c.933C= (p.Cys311=)
c.951C= (p.Cys317=)
2g.127428517C>GCA348405073PROCc.957C>G (p.Cys319Trp)
c.281C>G
c.1059C>G (p.Cys353Trp)
c.1140C>G (p.Cys380Trp)
c.1122C>G (p.Cys374Trp)
c.1020C>G (p.Cys340Trp)
n.1332-253G>C
c.1200C>G (p.Cys400Trp)
c.1302C>G (p.Cys434Trp)
c.1242C>G (p.Cys414Trp)
n.3607-253G>C
n.4043-253G>C
c.1125C>G (p.Cys375Trp)
c.1143C>G (p.Cys381Trp)
c.900C>G (p.Cys300Trp)
c.933C>G (p.Cys311Trp)
c.951C>G (p.Cys317Trp)
2g.127428517C>TCA428871640PROCc.957C>T (p.Cys319=)
c.281C>T
c.1059C>T (p.Cys353=)
c.1140C>T (p.Cys380=)
c.1122C>T (p.Cys374=)
c.1020C>T (p.Cys340=)
n.1332-253G>A
c.1200C>T (p.Cys400=)
c.1302C>T (p.Cys434=)
c.1242C>T (p.Cys414=)
n.3607-253G>A
n.4043-253G>A
c.1125C>T (p.Cys375=)
c.1143C>T (p.Cys381=)
c.900C>T (p.Cys300=)
c.933C>T (p.Cys311=)
c.951C>T (p.Cys317=)
 dbSNP COSMIC
2g.127428518C>ACA348405076PROCc.958C>A (p.Leu320Ile)
c.282C>A
c.1060C>A (p.Leu354Ile)
c.1141C>A (p.Leu381Ile)
c.1123C>A (p.Leu375Ile)
c.1021C>A (p.Leu341Ile)
n.1332-254G>T
c.1201C>A (p.Leu401Ile)
c.1303C>A (p.Leu435Ile)
c.1243C>A (p.Leu415Ile)
n.3607-254G>T
n.4043-254G>T
c.1126C>A (p.Leu376Ile)
c.1144C>A (p.Leu382Ile)
c.901C>A (p.Leu301Ile)
c.934C>A (p.Leu312Ile)
c.952C>A (p.Leu318Ile)
2g.127428518C>GCA348405077PROCc.958C>G (p.Leu320Val)
c.282C>G
c.1060C>G (p.Leu354Val)
c.1141C>G (p.Leu381Val)
c.1123C>G (p.Leu375Val)
c.1021C>G (p.Leu341Val)
n.1332-254G>C
c.1201C>G (p.Leu401Val)
c.1303C>G (p.Leu435Val)
c.1243C>G (p.Leu415Val)
n.3607-254G>C
n.4043-254G>C
c.1126C>G (p.Leu376Val)
c.1144C>G (p.Leu382Val)
c.901C>G (p.Leu301Val)
c.934C>G (p.Leu312Val)
c.952C>G (p.Leu318Val)
2g.127428518C>TCA348405078PROCc.958C>T (p.Leu320Phe)
c.282C>T
c.1060C>T (p.Leu354Phe)
c.1141C>T (p.Leu381Phe)
c.1123C>T (p.Leu375Phe)
c.1021C>T (p.Leu341Phe)
n.1332-254G>A
c.1201C>T (p.Leu401Phe)
c.1303C>T (p.Leu435Phe)
c.1243C>T (p.Leu415Phe)
n.3607-254G>A
n.4043-254G>A
c.1126C>T (p.Leu376Phe)
c.1144C>T (p.Leu382Phe)
c.901C>T (p.Leu301Phe)
c.934C>T (p.Leu312Phe)
c.952C>T (p.Leu318Phe)
2g.127428519T>ACA348405079PROCc.959T>A (p.Leu320His)
c.283T>A
c.1061T>A (p.Leu354His)
c.1142T>A (p.Leu381His)
c.1124T>A (p.Leu375His)
c.1022T>A (p.Leu341His)
n.1332-255A>T
c.1202T>A (p.Leu401His)
c.1304T>A (p.Leu435His)
c.1244T>A (p.Leu415His)
n.3607-255A>T
n.4043-255A>T
c.1127T>A (p.Leu376His)
c.1145T>A (p.Leu382His)
c.902T>A (p.Leu301His)
c.935T>A (p.Leu312His)
c.953T>A (p.Leu318His)
2g.127428519T>CCA348405081PROCc.959T>C (p.Leu320Pro)
c.283T>C
c.1061T>C (p.Leu354Pro)
c.1142T>C (p.Leu381Pro)
c.1124T>C (p.Leu375Pro)
c.1022T>C (p.Leu341Pro)
n.1332-255A>G
c.1202T>C (p.Leu401Pro)
c.1304T>C (p.Leu435Pro)
c.1244T>C (p.Leu415Pro)
n.3607-255A>G
n.4043-255A>G
c.1127T>C (p.Leu376Pro)
c.1145T>C (p.Leu382Pro)
c.902T>C (p.Leu301Pro)
c.935T>C (p.Leu312Pro)
c.953T>C (p.Leu318Pro)
2g.127428519T>GCA348405094PROCc.959T>G (p.Leu320Arg)
c.283T>G
c.1061T>G (p.Leu354Arg)
c.1142T>G (p.Leu381Arg)
c.1124T>G (p.Leu375Arg)
c.1022T>G (p.Leu341Arg)
n.1332-255A>C
c.1202T>G (p.Leu401Arg)
c.1304T>G (p.Leu435Arg)
c.1244T>G (p.Leu415Arg)
n.3607-255A>C
n.4043-255A>C
c.1127T>G (p.Leu376Arg)
c.1145T>G (p.Leu382Arg)
c.902T>G (p.Leu301Arg)
c.935T>G (p.Leu312Arg)
c.953T>G (p.Leu318Arg)
2g.127428520C>ACA428871657PROCc.960C>A (p.Leu320=)
c.284C>A
c.1062C>A (p.Leu354=)
c.1143C>A (p.Leu381=)
c.1125C>A (p.Leu375=)
c.1023C>A (p.Leu341=)
n.1332-256G>T
c.1203C>A (p.Leu401=)
c.1305C>A (p.Leu435=)
c.1245C>A (p.Leu415=)
n.3607-256G>T
n.4043-256G>T
c.1128C>A (p.Leu376=)
c.1146C>A (p.Leu382=)
c.903C>A (p.Leu301=)
c.936C>A (p.Leu312=)
c.954C>A (p.Leu318=)
2g.127428520C>GCA428871659PROCc.960C>G (p.Leu320=)
c.284C>G
c.1062C>G (p.Leu354=)
c.1143C>G (p.Leu381=)
c.1125C>G (p.Leu375=)
c.1023C>G (p.Leu341=)
n.1332-256G>C
c.1203C>G (p.Leu401=)
c.1305C>G (p.Leu435=)
c.1245C>G (p.Leu415=)
n.3607-256G>C
n.4043-256G>C
c.1128C>G (p.Leu376=)
c.1146C>G (p.Leu382=)
c.903C>G (p.Leu301=)
c.936C>G (p.Leu312=)
c.954C>G (p.Leu318=)
2g.127428520C>TCA428871660PROCc.960C>T (p.Leu320=)
c.284C>T
c.1062C>T (p.Leu354=)
c.1143C>T (p.Leu381=)
c.1125C>T (p.Leu375=)
c.1023C>T (p.Leu341=)
n.1332-256G>A
c.1203C>T (p.Leu401=)
c.1305C>T (p.Leu435=)
c.1245C>T (p.Leu415=)
n.3607-256G>A
n.4043-256G>A
c.1128C>T (p.Leu376=)
c.1146C>T (p.Leu382=)
c.903C>T (p.Leu301=)
c.936C>T (p.Leu312=)
c.954C>T (p.Leu318=)
2g.127428521C>ACA348405096PROCc.961C>A (p.Pro321Thr)
c.285C>A
c.1063C>A (p.Pro355Thr)
c.1144C>A (p.Pro382Thr)
c.1126C>A (p.Pro376Thr)
c.1024C>A (p.Pro342Thr)
n.1332-257G>T
c.1204C>A (p.Pro402Thr)
c.1306C>A (p.Pro436Thr)
c.1246C>A (p.Pro416Thr)
n.3607-257G>T
n.4043-257G>T
c.1129C>A (p.Pro377Thr)
c.1147C>A (p.Pro383Thr)
c.904C>A (p.Pro302Thr)
c.937C>A (p.Pro313Thr)
c.955C>A (p.Pro319Thr)
2g.127428521C>GCA348405097PROCc.961C>G (p.Pro321Ala)
c.285C>G
c.1063C>G (p.Pro355Ala)
c.1144C>G (p.Pro382Ala)
c.1126C>G (p.Pro376Ala)
c.1024C>G (p.Pro342Ala)
n.1332-257G>C
c.1204C>G (p.Pro402Ala)
c.1306C>G (p.Pro436Ala)
c.1246C>G (p.Pro416Ala)
n.3607-257G>C
n.4043-257G>C
c.1129C>G (p.Pro377Ala)
c.1147C>G (p.Pro383Ala)
c.904C>G (p.Pro302Ala)
c.937C>G (p.Pro313Ala)
c.955C>G (p.Pro319Ala)
2g.127428521C>TCA348405098PROCc.961C>T (p.Pro321Ser)
c.285C>T
c.1063C>T (p.Pro355Ser)
c.1144C>T (p.Pro382Ser)
c.1126C>T (p.Pro376Ser)
c.1024C>T (p.Pro342Ser)
n.1332-257G>A
c.1204C>T (p.Pro402Ser)
c.1306C>T (p.Pro436Ser)
c.1246C>T (p.Pro416Ser)
n.3607-257G>A
n.4043-257G>A
c.1129C>T (p.Pro377Ser)
c.1147C>T (p.Pro383Ser)
c.904C>T (p.Pro302Ser)
c.937C>T (p.Pro313Ser)
c.955C>T (p.Pro319Ser)
 gnomAD v4
2g.127428522C>ACA348405101PROCc.962C>A (p.Pro321Gln)
c.286C>A
c.1064C>A (p.Pro355Gln)
c.1145C>A (p.Pro382Gln)
c.1127C>A (p.Pro376Gln)
c.1025C>A (p.Pro342Gln)
n.1332-258G>T
c.1205C>A (p.Pro402Gln)
c.1307C>A (p.Pro436Gln)
c.1247C>A (p.Pro416Gln)
n.3607-258G>T
n.4043-258G>T
c.1130C>A (p.Pro377Gln)
c.1148C>A (p.Pro383Gln)
c.905C>A (p.Pro302Gln)
c.938C>A (p.Pro313Gln)
c.956C>A (p.Pro319Gln)
2g.127428522C=CA1286884508PROCc.962C= (p.Pro321=)
c.286C=
c.1064C= (p.Pro355=)
c.1145C= (p.Pro382=)
c.1127C= (p.Pro376=)
c.1025C= (p.Pro342=)
n.1332-258G=
c.1205C= (p.Pro402=)
c.1307C= (p.Pro436=)
c.1247C= (p.Pro416=)
n.3607-258G=
n.4043-258G=
c.1130C= (p.Pro377=)
c.1148C= (p.Pro383=)
c.905C= (p.Pro302=)
c.938C= (p.Pro313=)
c.956C= (p.Pro319=)
2g.127428522C>GCA348405104PROCc.962C>G (p.Pro321Arg)
c.286C>G
c.1064C>G (p.Pro355Arg)
c.1145C>G (p.Pro382Arg)
c.1127C>G (p.Pro376Arg)
c.1025C>G (p.Pro342Arg)
n.1332-258G>C
c.1205C>G (p.Pro402Arg)
c.1307C>G (p.Pro436Arg)
c.1247C>G (p.Pro416Arg)
n.3607-258G>C
n.4043-258G>C
c.1130C>G (p.Pro377Arg)
c.1148C>G (p.Pro383Arg)
c.905C>G (p.Pro302Arg)
c.938C>G (p.Pro313Arg)
c.956C>G (p.Pro319Arg)
2g.127428522C>TCA348405099PROCc.962C>T (p.Pro321Leu)
c.286C>T
c.1064C>T (p.Pro355Leu)
c.1145C>T (p.Pro382Leu)
c.1127C>T (p.Pro376Leu)
c.1025C>T (p.Pro342Leu)
n.1332-258G>A
c.1205C>T (p.Pro402Leu)
c.1307C>T (p.Pro436Leu)
c.1247C>T (p.Pro416Leu)
n.3607-258G>A
n.4043-258G>A
c.1130C>T (p.Pro377Leu)
c.1148C>T (p.Pro383Leu)
c.905C>T (p.Pro302Leu)
c.938C>T (p.Pro313Leu)
c.956C>T (p.Pro319Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428523G>ACA1859493PROCc.963G>A (p.Pro321=)
c.287G>A
c.1065G>A (p.Pro355=)
c.1146G>A (p.Pro382=)
c.1128G>A (p.Pro376=)
c.1026G>A (p.Pro342=)
n.1332-259C>T
c.1206G>A (p.Pro402=)
c.1308G>A (p.Pro436=)
c.1248G>A (p.Pro416=)
n.3607-259C>T
n.4043-259C>T
c.1131G>A (p.Pro377=)
c.1149G>A (p.Pro383=)
c.906G>A (p.Pro302=)
c.939G>A (p.Pro313=)
c.957G>A (p.Pro319=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127428523G>CCA1859492PROCc.963G>C (p.Pro321=)
c.287G>C
c.1065G>C (p.Pro355=)
c.1146G>C (p.Pro382=)
c.1128G>C (p.Pro376=)
c.1026G>C (p.Pro342=)
n.1332-259C>G
c.1206G>C (p.Pro402=)
c.1308G>C (p.Pro436=)
c.1248G>C (p.Pro416=)
n.3607-259C>G
n.4043-259C>G
c.1131G>C (p.Pro377=)
c.1149G>C (p.Pro383=)
c.906G>C (p.Pro302=)
c.939G>C (p.Pro313=)
c.957G>C (p.Pro319=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428523G=CA1286884509PROCc.963G= (p.Pro321=)
c.287G=
c.1065G= (p.Pro355=)
c.1146G= (p.Pro382=)
c.1128G= (p.Pro376=)
c.1026G= (p.Pro342=)
n.1332-259C=
c.1206G= (p.Pro402=)
c.1308G= (p.Pro436=)
c.1248G= (p.Pro416=)
n.3607-259C=
n.4043-259C=
c.1131G= (p.Pro377=)
c.1149G= (p.Pro383=)
c.906G= (p.Pro302=)
c.939G= (p.Pro313=)
c.957G= (p.Pro319=)
2g.127428523G>TCA428871675PROCc.963G>T (p.Pro321=)
c.287G>T
c.1065G>T (p.Pro355=)
c.1146G>T (p.Pro382=)
c.1128G>T (p.Pro376=)
c.1026G>T (p.Pro342=)
n.1332-259C>A
c.1206G>T (p.Pro402=)
c.1308G>T (p.Pro436=)
c.1248G>T (p.Pro416=)
n.3607-259C>A
n.4043-259C>A
c.1131G>T (p.Pro377=)
c.1149G>T (p.Pro383=)
c.906G>T (p.Pro302=)
c.939G>T (p.Pro313=)
c.957G>T (p.Pro319=)
2g.127428524delCA2586969912PROCc.964del (p.Asp322ThrfsTer18)
c.288del
c.1066del (p.Asp356ThrfsTer18)
c.1147del (p.Asp383ThrfsTer18)
c.1129del (p.Asp377ThrfsTer18)
c.1027del (p.Asp343ThrfsTer18)
n.1332-259del
c.1207del (p.Asp403ThrfsTer18)
c.1309del (p.Asp437ThrfsTer18)
c.1249del (p.Asp417ThrfsTer18)
n.3607-259del
n.4043-259del
c.1132del (p.Asp378ThrfsTer18)
c.1150del (p.Asp384ThrfsTer18)
c.907del (p.Asp303ThrfsTer18)
c.940del (p.Asp314ThrfsTer18)
c.958del (p.Asp320ThrfsTer18)
 gnomAD v4
2g.127428524G>ACA348405110PROCc.964G>A (p.Asp322Asn)
c.288G>A
c.1066G>A (p.Asp356Asn)
c.1147G>A (p.Asp383Asn)
c.1129G>A (p.Asp377Asn)
c.1027G>A (p.Asp343Asn)
n.1332-260C>T
c.1207G>A (p.Asp403Asn)
c.1309G>A (p.Asp437Asn)
c.1249G>A (p.Asp417Asn)
n.3607-260C>T
n.4043-260C>T
c.1132G>A (p.Asp378Asn)
c.1150G>A (p.Asp384Asn)
c.907G>A (p.Asp303Asn)
c.940G>A (p.Asp314Asn)
c.958G>A (p.Asp320Asn)
2g.127428524G>CCA348405113PROCc.964G>C (p.Asp322His)
c.288G>C
c.1066G>C (p.Asp356His)
c.1147G>C (p.Asp383His)
c.1129G>C (p.Asp377His)
c.1027G>C (p.Asp343His)
n.1332-260C>G
c.1207G>C (p.Asp403His)
c.1309G>C (p.Asp437His)
c.1249G>C (p.Asp417His)
n.3607-260C>G
n.4043-260C>G
c.1132G>C (p.Asp378His)
c.1150G>C (p.Asp384His)
c.907G>C (p.Asp303His)
c.940G>C (p.Asp314His)
c.958G>C (p.Asp320His)
2g.127428524G>TCA348405115PROCc.964G>T (p.Asp322Tyr)
c.288G>T
c.1066G>T (p.Asp356Tyr)
c.1147G>T (p.Asp383Tyr)
c.1129G>T (p.Asp377Tyr)
c.1027G>T (p.Asp343Tyr)
n.1332-260C>A
c.1207G>T (p.Asp403Tyr)
c.1309G>T (p.Asp437Tyr)
c.1249G>T (p.Asp417Tyr)
n.3607-260C>A
n.4043-260C>A
c.1132G>T (p.Asp378Tyr)
c.1150G>T (p.Asp384Tyr)
c.907G>T (p.Asp303Tyr)
c.940G>T (p.Asp314Tyr)
c.958G>T (p.Asp320Tyr)
2g.127428525A>CCA348405123PROCc.965A>C (p.Asp322Ala)
c.289A>C
c.1067A>C (p.Asp356Ala)
c.1148A>C (p.Asp383Ala)
c.1130A>C (p.Asp377Ala)
c.1028A>C (p.Asp343Ala)
n.1332-261T>G
c.1208A>C (p.Asp403Ala)
c.1310A>C (p.Asp437Ala)
c.1250A>C (p.Asp417Ala)
n.3607-261T>G
n.4043-261T>G
c.1133A>C (p.Asp378Ala)
c.1151A>C (p.Asp384Ala)
c.908A>C (p.Asp303Ala)
c.941A>C (p.Asp314Ala)
c.959A>C (p.Asp320Ala)
2g.127428525A>GCA348405121PROCc.965A>G (p.Asp322Gly)
c.289A>G
c.1067A>G (p.Asp356Gly)
c.1148A>G (p.Asp383Gly)
c.1130A>G (p.Asp377Gly)
c.1028A>G (p.Asp343Gly)
n.1332-261T>C
c.1208A>G (p.Asp403Gly)
c.1310A>G (p.Asp437Gly)
c.1250A>G (p.Asp417Gly)
n.3607-261T>C
n.4043-261T>C
c.1133A>G (p.Asp378Gly)
c.1151A>G (p.Asp384Gly)
c.908A>G (p.Asp303Gly)
c.941A>G (p.Asp314Gly)
c.959A>G (p.Asp320Gly)
 ClinVar dbSNP
2g.127428525A>TCA348405118PROCc.965A>T (p.Asp322Val)
c.289A>T
c.1067A>T (p.Asp356Val)
c.1148A>T (p.Asp383Val)
c.1130A>T (p.Asp377Val)
c.1028A>T (p.Asp343Val)
n.1332-261T>A
c.1208A>T (p.Asp403Val)
c.1310A>T (p.Asp437Val)
c.1250A>T (p.Asp417Val)
n.3607-261T>A
n.4043-261T>A
c.1133A>T (p.Asp378Val)
c.1151A>T (p.Asp384Val)
c.908A>T (p.Asp303Val)
c.941A>T (p.Asp314Val)
c.959A>T (p.Asp320Val)
2g.127428526C>ACA348405126PROCc.966C>A (p.Asp322Glu)
c.290C>A
c.1068C>A (p.Asp356Glu)
c.1149C>A (p.Asp383Glu)
c.1131C>A (p.Asp377Glu)
c.1029C>A (p.Asp343Glu)
n.1332-262G>T
c.1209C>A (p.Asp403Glu)
c.1311C>A (p.Asp437Glu)
c.1251C>A (p.Asp417Glu)
n.3607-262G>T
n.4043-262G>T
c.1134C>A (p.Asp378Glu)
c.1152C>A (p.Asp384Glu)
c.909C>A (p.Asp303Glu)
c.942C>A (p.Asp314Glu)
c.960C>A (p.Asp320Glu)
2g.127428526C=CA1286884510PROCc.966C= (p.Asp322=)
c.290C=
c.1068C= (p.Asp356=)
c.1149C= (p.Asp383=)
c.1131C= (p.Asp377=)
c.1029C= (p.Asp343=)
n.1332-262G=
c.1209C= (p.Asp403=)
c.1311C= (p.Asp437=)
c.1251C= (p.Asp417=)
n.3607-262G=
n.4043-262G=
c.1134C= (p.Asp378=)
c.1152C= (p.Asp384=)
c.909C= (p.Asp303=)
c.942C= (p.Asp314=)
c.960C= (p.Asp320=)
2g.127428526C>GCA348405127PROCc.966C>G (p.Asp322Glu)
c.290C>G
c.1068C>G (p.Asp356Glu)
c.1149C>G (p.Asp383Glu)
c.1131C>G (p.Asp377Glu)
c.1029C>G (p.Asp343Glu)
n.1332-262G>C
c.1209C>G (p.Asp403Glu)
c.1311C>G (p.Asp437Glu)
c.1251C>G (p.Asp417Glu)
n.3607-262G>C
n.4043-262G>C
c.1134C>G (p.Asp378Glu)
c.1152C>G (p.Asp384Glu)
c.909C>G (p.Asp303Glu)
c.942C>G (p.Asp314Glu)
c.960C>G (p.Asp320Glu)
2g.127428526C>TCA1859494PROCc.966C>T (p.Asp322=)
c.290C>T
c.1068C>T (p.Asp356=)
c.1149C>T (p.Asp383=)
c.1131C>T (p.Asp377=)
c.1029C>T (p.Asp343=)
n.1332-262G>A
c.1209C>T (p.Asp403=)
c.1311C>T (p.Asp437=)
c.1251C>T (p.Asp417=)
n.3607-262G>A
n.4043-262G>A
c.1134C>T (p.Asp378=)
c.1152C>T (p.Asp384=)
c.909C>T (p.Asp303=)
c.942C>T (p.Asp314=)
c.960C>T (p.Asp320=)
 dbSNP ExAC gnomAD v2 gnomAD v3 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.127428527A>CCA348405129PROCc.967A>C (p.Ser323Arg)
c.291A>C
c.1069A>C (p.Ser357Arg)
c.1150A>C (p.Ser384Arg)
c.1132A>C (p.Ser378Arg)
c.1030A>C (p.Ser344Arg)
n.1332-263T>G
c.1210A>C (p.Ser404Arg)
c.1312A>C (p.Ser438Arg)
c.1252A>C (p.Ser418Arg)
n.3607-263T>G
n.4043-263T>G
c.1135A>C (p.Ser379Arg)
c.1153A>C (p.Ser385Arg)
c.910A>C (p.Ser304Arg)
c.943A>C (p.Ser315Arg)
c.961A>C (p.Ser321Arg)
 gnomAD v4
2g.127428527A>GCA348405131PROCc.967A>G (p.Ser323Gly)
c.291A>G
c.1069A>G (p.Ser357Gly)
c.1150A>G (p.Ser384Gly)
c.1132A>G (p.Ser378Gly)
c.1030A>G (p.Ser344Gly)
n.1332-263T>C
c.1210A>G (p.Ser404Gly)
c.1312A>G (p.Ser438Gly)
c.1252A>G (p.Ser418Gly)
n.3607-263T>C
n.4043-263T>C
c.1135A>G (p.Ser379Gly)
c.1153A>G (p.Ser385Gly)
c.910A>G (p.Ser304Gly)
c.943A>G (p.Ser315Gly)
c.961A>G (p.Ser321Gly)
2g.127428527A>TCA348405133PROCc.967A>T (p.Ser323Cys)
c.291A>T
c.1069A>T (p.Ser357Cys)
c.1150A>T (p.Ser384Cys)
c.1132A>T (p.Ser378Cys)
c.1030A>T (p.Ser344Cys)
n.1332-263T>A
c.1210A>T (p.Ser404Cys)
c.1312A>T (p.Ser438Cys)
c.1252A>T (p.Ser418Cys)
n.3607-263T>A
n.4043-263T>A
c.1135A>T (p.Ser379Cys)
c.1153A>T (p.Ser385Cys)
c.910A>T (p.Ser304Cys)
c.943A>T (p.Ser315Cys)
c.961A>T (p.Ser321Cys)
2g.127428528G>ACA348405136PROCc.968G>A (p.Ser323Asn)
c.292G>A
c.1070G>A (p.Ser357Asn)
c.1151G>A (p.Ser384Asn)
c.1133G>A (p.Ser378Asn)
c.1031G>A (p.Ser344Asn)
n.1332-264C>T
c.1211G>A (p.Ser404Asn)
c.1313G>A (p.Ser438Asn)
c.1253G>A (p.Ser418Asn)
n.3607-264C>T
n.4043-264C>T
c.1136G>A (p.Ser379Asn)
c.1154G>A (p.Ser385Asn)
c.911G>A (p.Ser304Asn)
c.944G>A (p.Ser315Asn)
c.962G>A (p.Ser321Asn)
2g.127428528G>CCA348405140PROCc.968G>C (p.Ser323Thr)
c.292G>C
c.1070G>C (p.Ser357Thr)
c.1151G>C (p.Ser384Thr)
c.1133G>C (p.Ser378Thr)
c.1031G>C (p.Ser344Thr)
n.1332-264C>G
c.1211G>C (p.Ser404Thr)
c.1313G>C (p.Ser438Thr)
c.1253G>C (p.Ser418Thr)
n.3607-264C>G
n.4043-264C>G
c.1136G>C (p.Ser379Thr)
c.1154G>C (p.Ser385Thr)
c.911G>C (p.Ser304Thr)
c.944G>C (p.Ser315Thr)
c.962G>C (p.Ser321Thr)
2g.127428528G>TCA348405138PROCc.968G>T (p.Ser323Ile)
c.292G>T
c.1070G>T (p.Ser357Ile)
c.1151G>T (p.Ser384Ile)
c.1133G>T (p.Ser378Ile)
c.1031G>T (p.Ser344Ile)
n.1332-264C>A
c.1211G>T (p.Ser404Ile)
c.1313G>T (p.Ser438Ile)
c.1253G>T (p.Ser418Ile)
n.3607-264C>A
n.4043-264C>A
c.1136G>T (p.Ser379Ile)
c.1154G>T (p.Ser385Ile)
c.911G>T (p.Ser304Ile)
c.944G>T (p.Ser315Ile)
c.962G>T (p.Ser321Ile)
2g.127428529C>ACA1859496PROCc.969C>A (p.Ser323Arg)
c.293C>A
c.1071C>A (p.Ser357Arg)
c.1152C>A (p.Ser384Arg)
c.1134C>A (p.Ser378Arg)
c.1032C>A (p.Ser344Arg)
n.1332-265G>T
c.1212C>A (p.Ser404Arg)
c.1314C>A (p.Ser438Arg)
c.1254C>A (p.Ser418Arg)
n.3607-265G>T
n.4043-265G>T
c.1137C>A (p.Ser379Arg)
c.1155C>A (p.Ser385Arg)
c.912C>A (p.Ser304Arg)
c.945C>A (p.Ser315Arg)
c.963C>A (p.Ser321Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428529C=CA1286884511PROCc.969C= (p.Ser323=)
c.293C=
c.1071C= (p.Ser357=)
c.1152C= (p.Ser384=)
c.1134C= (p.Ser378=)
c.1032C= (p.Ser344=)
n.1332-265G=
c.1212C= (p.Ser404=)
c.1314C= (p.Ser438=)
c.1254C= (p.Ser418=)
n.3607-265G=
n.4043-265G=
c.1137C= (p.Ser379=)
c.1155C= (p.Ser385=)
c.912C= (p.Ser304=)
c.945C= (p.Ser315=)
c.963C= (p.Ser321=)
2g.127428529C>GCA348405147PROCc.969C>G (p.Ser323Arg)
c.293C>G
c.1071C>G (p.Ser357Arg)
c.1152C>G (p.Ser384Arg)
c.1134C>G (p.Ser378Arg)
c.1032C>G (p.Ser344Arg)
n.1332-265G>C
c.1212C>G (p.Ser404Arg)
c.1314C>G (p.Ser438Arg)
c.1254C>G (p.Ser418Arg)
n.3607-265G>C
n.4043-265G>C
c.1137C>G (p.Ser379Arg)
c.1155C>G (p.Ser385Arg)
c.912C>G (p.Ser304Arg)
c.945C>G (p.Ser315Arg)
c.963C>G (p.Ser321Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.127428529C>TCA1859495PROCc.969C>T (p.Ser323=)
c.293C>T
c.1071C>T (p.Ser357=)
c.1152C>T (p.Ser384=)
c.1134C>T (p.Ser378=)
c.1032C>T (p.Ser344=)
n.1332-265G>A
c.1212C>T (p.Ser404=)
c.1314C>T (p.Ser438=)
c.1254C>T (p.Ser418=)
n.3607-265G>A
n.4043-265G>A
c.1137C>T (p.Ser379=)
c.1155C>T (p.Ser385=)
c.912C>T (p.Ser304=)
c.945C>T (p.Ser315=)
c.963C>T (p.Ser321=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.127428530G>ACA1859497PROCc.970G>A (p.Gly324Ser)
c.294G>A
c.1072G>A (p.Gly358Ser)
c.1153G>A (p.Gly385Ser)
c.1135G>A (p.Gly379Ser)
c.1033G>A (p.Gly345Ser)
n.1332-266C>T
c.1213G>A (p.Gly405Ser)
c.1315G>A (p.Gly439Ser)
c.1255G>A (p.Gly419Ser)
n.3607-266C>T
n.4043-266C>T
c.1138G>A (p.Gly380Ser)
c.1156G>A (p.Gly386Ser)
c.913G>A (p.Gly305Ser)
c.946G>A (p.Gly316Ser)
c.964G>A (p.Gly322Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428530G>CCA348405154PROCc.970G>C (p.Gly324Arg)
c.294G>C
c.1072G>C (p.Gly358Arg)
c.1153G>C (p.Gly385Arg)
c.1135G>C (p.Gly379Arg)
c.1033G>C (p.Gly345Arg)
n.1332-266C>G
c.1213G>C (p.Gly405Arg)
c.1315G>C (p.Gly439Arg)
c.1255G>C (p.Gly419Arg)
n.3607-266C>G
n.4043-266C>G
c.1138G>C (p.Gly380Arg)
c.1156G>C (p.Gly386Arg)
c.913G>C (p.Gly305Arg)
c.946G>C (p.Gly316Arg)
c.964G>C (p.Gly322Arg)
2g.127428530G=CA1286884512PROCc.970G= (p.Gly324=)
c.294G=
c.1072G= (p.Gly358=)
c.1153G= (p.Gly385=)
c.1135G= (p.Gly379=)
c.1033G= (p.Gly345=)
n.1332-266C=
c.1213G= (p.Gly405=)
c.1315G= (p.Gly439=)
c.1255G= (p.Gly419=)
n.3607-266C=
n.4043-266C=
c.1138G= (p.Gly380=)
c.1156G= (p.Gly386=)
c.913G= (p.Gly305=)
c.946G= (p.Gly316=)
c.964G= (p.Gly322=)
2g.127428530G>TCA348405155PROCc.970G>T (p.Gly324Cys)
c.294G>T
c.1072G>T (p.Gly358Cys)
c.1153G>T (p.Gly385Cys)
c.1135G>T (p.Gly379Cys)
c.1033G>T (p.Gly345Cys)
n.1332-266C>A
c.1213G>T (p.Gly405Cys)
c.1315G>T (p.Gly439Cys)
c.1255G>T (p.Gly419Cys)
n.3607-266C>A
n.4043-266C>A
c.1138G>T (p.Gly380Cys)
c.1156G>T (p.Gly386Cys)
c.913G>T (p.Gly305Cys)
c.946G>T (p.Gly316Cys)
c.964G>T (p.Gly322Cys)
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=)

Number of alleles fetched