| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428460C>A | CA428618907 | PROC | c.900C>A (p.Ile300=) c.224C>A c.1002C>A (p.Ile334=) c.1083C>A (p.Ile361=) c.1065C>A (p.Ile355=) c.963C>A (p.Ile321=) n.1332-196G>T c.1143C>A (p.Ile381=) c.1245C>A (p.Ile415=) c.1185C>A (p.Ile395=) n.3607-196G>T n.4043-196G>T c.1068C>A (p.Ile356=) c.1086C>A (p.Ile362=) c.843C>A (p.Ile281=) c.876C>A (p.Ile292=) c.894C>A (p.Ile298=) | |
| 2 | g.127428460C= | CA1286884482 | PROC | c.900C= (p.Ile300=) c.224C= c.1002C= (p.Ile334=) c.1083C= (p.Ile361=) c.1065C= (p.Ile355=) c.963C= (p.Ile321=) n.1332-196G= c.1143C= (p.Ile381=) c.1245C= (p.Ile415=) c.1185C= (p.Ile395=) n.3607-196G= n.4043-196G= c.1068C= (p.Ile356=) c.1086C= (p.Ile362=) c.843C= (p.Ile281=) c.876C= (p.Ile292=) c.894C= (p.Ile298=) | |
| 2 | g.127428460C>G | CA348404725 | PROC | c.900C>G (p.Ile300Met) c.224C>G c.1002C>G (p.Ile334Met) c.1083C>G (p.Ile361Met) c.1065C>G (p.Ile355Met) c.963C>G (p.Ile321Met) n.1332-196G>C c.1143C>G (p.Ile381Met) c.1245C>G (p.Ile415Met) c.1185C>G (p.Ile395Met) n.3607-196G>C n.4043-196G>C c.1068C>G (p.Ile356Met) c.1086C>G (p.Ile362Met) c.843C>G (p.Ile281Met) c.876C>G (p.Ile292Met) c.894C>G (p.Ile298Met) | gnomAD v4 COSMIC |
| 2 | g.127428460C>T | CA1859484 | PROC | c.900C>T (p.Ile300=) c.224C>T c.1002C>T (p.Ile334=) c.1083C>T (p.Ile361=) c.1065C>T (p.Ile355=) c.963C>T (p.Ile321=) n.1332-196G>A c.1143C>T (p.Ile381=) c.1245C>T (p.Ile415=) c.1185C>T (p.Ile395=) n.3607-196G>A n.4043-196G>A c.1068C>T (p.Ile356=) c.1086C>T (p.Ile362=) c.843C>T (p.Ile281=) c.876C>T (p.Ile292=) c.894C>T (p.Ile298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428461G>A | CA348404731 | PROC | c.901G>A (p.Ala301Thr) c.225G>A c.1003G>A (p.Ala335Thr) c.1084G>A (p.Ala362Thr) c.1066G>A (p.Ala356Thr) c.964G>A (p.Ala322Thr) n.1332-197C>T c.1144G>A (p.Ala382Thr) c.1246G>A (p.Ala416Thr) c.1186G>A (p.Ala396Thr) n.3607-197C>T n.4043-197C>T c.1069G>A (p.Ala357Thr) c.1087G>A (p.Ala363Thr) c.844G>A (p.Ala282Thr) c.877G>A (p.Ala293Thr) c.895G>A (p.Ala299Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.127428461G>C | CA348404733 | PROC | c.901G>C (p.Ala301Pro) c.225G>C c.1003G>C (p.Ala335Pro) c.1084G>C (p.Ala362Pro) c.1066G>C (p.Ala356Pro) c.964G>C (p.Ala322Pro) n.1332-197C>G c.1144G>C (p.Ala382Pro) c.1246G>C (p.Ala416Pro) c.1186G>C (p.Ala396Pro) n.3607-197C>G n.4043-197C>G c.1069G>C (p.Ala357Pro) c.1087G>C (p.Ala363Pro) c.844G>C (p.Ala282Pro) c.877G>C (p.Ala293Pro) c.895G>C (p.Ala299Pro) | |
| 2 | g.127428461G= | CA1286884483 | PROC | c.901G= (p.Ala301=) c.225G= c.1003G= (p.Ala335=) c.1084G= (p.Ala362=) c.1066G= (p.Ala356=) c.964G= (p.Ala322=) n.1332-197C= c.1144G= (p.Ala382=) c.1246G= (p.Ala416=) c.1186G= (p.Ala396=) n.3607-197C= n.4043-197C= c.1069G= (p.Ala357=) c.1087G= (p.Ala363=) c.844G= (p.Ala282=) c.877G= (p.Ala293=) c.895G= (p.Ala299=) | |
| 2 | g.127428461G>T | CA348404737 | PROC | c.901G>T (p.Ala301Ser) c.225G>T c.1003G>T (p.Ala335Ser) c.1084G>T (p.Ala362Ser) c.1066G>T (p.Ala356Ser) c.964G>T (p.Ala322Ser) n.1332-197C>A c.1144G>T (p.Ala382Ser) c.1246G>T (p.Ala416Ser) c.1186G>T (p.Ala396Ser) n.3607-197C>A n.4043-197C>A c.1069G>T (p.Ala357Ser) c.1087G>T (p.Ala363Ser) c.844G>T (p.Ala282Ser) c.877G>T (p.Ala293Ser) c.895G>T (p.Ala299Ser) | dbSNP gnomAD v4 |
| 2 | g.127428462C>A | CA348404740 | PROC | c.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) | |
| 2 | g.127428462C= | CA1286884484 | PROC | c.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=) | |
| 2 | g.127428462C>G | CA348404742 | PROC | c.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) | |
| 2 | g.127428462C>T | CA114391 | PROC | c.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 |
| 2 | g.127428463A= | CA1286884485 | PROC | c.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=) | |
| 2 | g.127428463A>C | CA1859485 | PROC | c.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 |
| 2 | g.127428463A>G | CA428618908 | PROC | c.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=) | |
| 2 | g.127428463A>T | CA428618909 | PROC | c.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=) | |
| 2 | g.127428464C>A | CA348404747 | PROC | c.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) | |
| 2 | g.127428464C>G | CA348404751 | PROC | c.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) | |
| 2 | g.127428464C>T | CA428618910 | PROC | c.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=) | |
| 2 | g.127428465T>A | CA348404753 | PROC | c.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) | |
| 2 | g.127428465T>C | CA348404757 | PROC | c.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) | |
| 2 | g.127428465T>G | CA348404759 | PROC | c.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) | |
| 2 | g.127428466G>A | CA428618911 | PROC | c.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=) | |
| 2 | g.127428466G>C | CA428618912 | PROC | c.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=) | |
| 2 | g.127428466G>T | CA428618913 | PROC | c.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=) | |
| 2 | g.127428467C>A | CA348404763 | PROC | c.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) | |
| 2 | g.127428467C>G | CA348404766 | PROC | c.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) | |
| 2 | g.127428467C>T | CA428618914 | PROC | c.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=) | |
| 2 | g.127428467_127428468del | CA2580063829 | PROC | c.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 |
| 2 | g.127428468T>A | CA348404768 | PROC | c.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) | |
| 2 | g.127428468T>C | CA348404771 | PROC | c.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 |
| 2 | g.127428468T>G | CA348404774 | PROC | c.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 |
| 2 | g.127428468T= | CA1286884486 | PROC | c.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=) | |
| 2 | g.127428469G>A | CA428618915 | PROC | c.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=) | |
| 2 | g.127428469G>C | CA428618916 | PROC | c.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=) | |
| 2 | g.127428469G>T | CA428618917 | PROC | c.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 |
| 2 | g.127428469_127428470delinsGC | CA1286884487 | PROC | c.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=) | |
| 2 | g.127428470del | CA535640693 | PROC | c.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 |
| 2 | g.127428470C>A | CA348404777 | PROC | c.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) | |
| 2 | g.127428470C= | CA1286884488 | PROC | c.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=) | |
| 2 | g.127428470C>G | CA348404783 | PROC | c.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) | |
| 2 | g.127428470C>T | CA1859486 | PROC | c.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 |
| 2 | g.127428471A= | CA1286884489 | PROC | c.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=) | |
| 2 | g.127428471A>C | CA348404789 | PROC | c.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 |
| 2 | g.127428471A>G | CA348404792 | PROC | c.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) | |
| 2 | g.127428471A>T | CA348404794 | PROC | c.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) | |
| 2 | g.127428472C>A | CA348404797 | PROC | c.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) | |
| 2 | g.127428472C>G | CA348404800 | PROC | c.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) | |
| 2 | g.127428472C>T | CA428618918 | PROC | c.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=) | |
| 2 | g.127428473C>A | CA348404803 | PROC | c.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 |