WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428575G>A | CA114425 | PROC | c.1015G>A (p.Val339Met) c.339G>A c.1117G>A (p.Val373Met) c.1198G>A (p.Val400Met) c.1180G>A (p.Val394Met) c.1078G>A (p.Val360Met) n.1332-311C>T c.1258G>A (p.Val420Met) c.1360G>A (p.Val454Met) c.1300G>A (p.Val434Met) n.3607-311C>T n.4043-311C>T c.1183G>A (p.Val395Met) c.1201G>A (p.Val401Met) c.958G>A (p.Val320Met) c.991G>A (p.Val331Met) c.1009G>A (p.Val337Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428575G>C | CA348405447 | PROC | c.1015G>C (p.Val339Leu) c.339G>C c.1117G>C (p.Val373Leu) c.1198G>C (p.Val400Leu) c.1180G>C (p.Val394Leu) c.1078G>C (p.Val360Leu) n.1332-311C>G c.1258G>C (p.Val420Leu) c.1360G>C (p.Val454Leu) c.1300G>C (p.Val434Leu) n.3607-311C>G n.4043-311C>G c.1183G>C (p.Val395Leu) c.1201G>C (p.Val401Leu) c.958G>C (p.Val320Leu) c.991G>C (p.Val331Leu) c.1009G>C (p.Val337Leu) | |
| 2 | g.127428575G= | CA1286884532 | PROC | c.1015G= (p.Val339=) c.339G= c.1117G= (p.Val373=) c.1198G= (p.Val400=) c.1180G= (p.Val394=) c.1078G= (p.Val360=) n.1332-311C= c.1258G= (p.Val420=) c.1360G= (p.Val454=) c.1300G= (p.Val434=) n.3607-311C= n.4043-311C= c.1183G= (p.Val395=) c.1201G= (p.Val401=) c.958G= (p.Val320=) c.991G= (p.Val331=) c.1009G= (p.Val337=) | |
| 2 | g.127428575G>T | CA348405449 | PROC | c.1015G>T (p.Val339Leu) c.339G>T c.1117G>T (p.Val373Leu) c.1198G>T (p.Val400Leu) c.1180G>T (p.Val394Leu) c.1078G>T (p.Val360Leu) n.1332-311C>A c.1258G>T (p.Val420Leu) c.1360G>T (p.Val454Leu) c.1300G>T (p.Val434Leu) n.3607-311C>A n.4043-311C>A c.1183G>T (p.Val395Leu) c.1201G>T (p.Val401Leu) c.958G>T (p.Val320Leu) c.991G>T (p.Val331Leu) c.1009G>T (p.Val337Leu) | |
| 2 | g.127428576T>A | CA348405460 | PROC | c.1016T>A (p.Val339Glu) c.340T>A c.1118T>A (p.Val373Glu) c.1199T>A (p.Val400Glu) c.1181T>A (p.Val394Glu) c.1079T>A (p.Val360Glu) n.1332-312A>T c.1259T>A (p.Val420Glu) c.1361T>A (p.Val454Glu) c.1301T>A (p.Val434Glu) n.3607-312A>T n.4043-312A>T c.1184T>A (p.Val395Glu) c.1202T>A (p.Val401Glu) c.959T>A (p.Val320Glu) c.992T>A (p.Val331Glu) c.1010T>A (p.Val337Glu) | |
| 2 | g.127428576T>C | CA348405462 | PROC | c.1016T>C (p.Val339Ala) c.340T>C c.1118T>C (p.Val373Ala) c.1199T>C (p.Val400Ala) c.1181T>C (p.Val394Ala) c.1079T>C (p.Val360Ala) n.1332-312A>G c.1259T>C (p.Val420Ala) c.1361T>C (p.Val454Ala) c.1301T>C (p.Val434Ala) n.3607-312A>G n.4043-312A>G c.1184T>C (p.Val395Ala) c.1202T>C (p.Val401Ala) c.959T>C (p.Val320Ala) c.992T>C (p.Val331Ala) c.1010T>C (p.Val337Ala) | |
| 2 | g.127428576T>G | CA348405458 | PROC | c.1016T>G (p.Val339Gly) c.340T>G c.1118T>G (p.Val373Gly) c.1199T>G (p.Val400Gly) c.1181T>G (p.Val394Gly) c.1079T>G (p.Val360Gly) n.1332-312A>C c.1259T>G (p.Val420Gly) c.1361T>G (p.Val454Gly) c.1301T>G (p.Val434Gly) n.3607-312A>C n.4043-312A>C c.1184T>G (p.Val395Gly) c.1202T>G (p.Val401Gly) c.959T>G (p.Val320Gly) c.992T>G (p.Val331Gly) c.1010T>G (p.Val337Gly) | |
| 2 | g.127428576dup | CA2660997780 | PROC | c.1016dup (p.Thr340AspfsTer?) c.340dup c.1118dup (p.Thr374AspfsTer?) c.1199dup (p.Thr401AspfsTer?) c.1181dup (p.Thr395AspfsTer?) c.1079dup (p.Thr361AspfsTer?) n.1332-312dup c.1259dup (p.Thr421AspfsTer?) c.1361dup (p.Thr455AspfsTer?) c.1301dup (p.Thr435AspfsTer?) n.3607-312dup n.4043-312dup c.1184dup (p.Thr396AspfsTer?) c.1202dup (p.Thr402AspfsTer?) c.959dup (p.Thr321AspfsTer?) c.992dup (p.Thr332AspfsTer?) c.1010dup (p.Thr338AspfsTer?) | gnomAD v4 |
| 2 | g.127428577G>A | CA55350934 | PROC | c.1017G>A (p.Val339=) c.341G>A c.1119G>A (p.Val373=) c.1200G>A (p.Val400=) c.1182G>A (p.Val394=) c.1080G>A (p.Val360=) n.1332-313C>T c.1260G>A (p.Val420=) c.1362G>A (p.Val454=) c.1302G>A (p.Val434=) n.3607-313C>T n.4043-313C>T c.1185G>A (p.Val395=) c.1203G>A (p.Val401=) c.960G>A (p.Val320=) c.993G>A (p.Val331=) c.1011G>A (p.Val337=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127428577G>C | CA428871936 | PROC | c.1017G>C (p.Val339=) c.341G>C c.1119G>C (p.Val373=) c.1200G>C (p.Val400=) c.1182G>C (p.Val394=) c.1080G>C (p.Val360=) n.1332-313C>G c.1260G>C (p.Val420=) c.1362G>C (p.Val454=) c.1302G>C (p.Val434=) n.3607-313C>G n.4043-313C>G c.1185G>C (p.Val395=) c.1203G>C (p.Val401=) c.960G>C (p.Val320=) c.993G>C (p.Val331=) c.1011G>C (p.Val337=) | |
| 2 | g.127428577G= | CA1286884533 | PROC | c.1017G= (p.Val339=) c.341G= c.1119G= (p.Val373=) c.1200G= (p.Val400=) c.1182G= (p.Val394=) c.1080G= (p.Val360=) n.1332-313C= c.1260G= (p.Val420=) c.1362G= (p.Val454=) c.1302G= (p.Val434=) n.3607-313C= n.4043-313C= c.1185G= (p.Val395=) c.1203G= (p.Val401=) c.960G= (p.Val320=) c.993G= (p.Val331=) c.1011G= (p.Val337=) | |
| 2 | g.127428577G>T | CA428871938 | PROC | c.1017G>T (p.Val339=) c.341G>T c.1119G>T (p.Val373=) c.1200G>T (p.Val400=) c.1182G>T (p.Val394=) c.1080G>T (p.Val360=) n.1332-313C>A c.1260G>T (p.Val420=) c.1362G>T (p.Val454=) c.1302G>T (p.Val434=) n.3607-313C>A n.4043-313C>A c.1185G>T (p.Val395=) c.1203G>T (p.Val401=) c.960G>T (p.Val320=) c.993G>T (p.Val331=) c.1011G>T (p.Val337=) | |
| 2 | g.127428578A>C | CA348405465 | PROC | c.1018A>C (p.Thr340Pro) c.342A>C c.1120A>C (p.Thr374Pro) c.1201A>C (p.Thr401Pro) c.1183A>C (p.Thr395Pro) c.1081A>C (p.Thr361Pro) n.1332-314T>G c.1261A>C (p.Thr421Pro) c.1363A>C (p.Thr455Pro) c.1303A>C (p.Thr435Pro) n.3607-314T>G n.4043-314T>G c.1186A>C (p.Thr396Pro) c.1204A>C (p.Thr402Pro) c.961A>C (p.Thr321Pro) c.994A>C (p.Thr332Pro) c.1012A>C (p.Thr338Pro) | |
| 2 | g.127428578A>G | CA348405471 | PROC | c.1018A>G (p.Thr340Ala) c.342A>G c.1120A>G (p.Thr374Ala) c.1201A>G (p.Thr401Ala) c.1183A>G (p.Thr395Ala) c.1081A>G (p.Thr361Ala) n.1332-314T>C c.1261A>G (p.Thr421Ala) c.1363A>G (p.Thr455Ala) c.1303A>G (p.Thr435Ala) n.3607-314T>C n.4043-314T>C c.1186A>G (p.Thr396Ala) c.1204A>G (p.Thr402Ala) c.961A>G (p.Thr321Ala) c.994A>G (p.Thr332Ala) c.1012A>G (p.Thr338Ala) | |
| 2 | g.127428578A>T | CA348405472 | PROC | c.1018A>T (p.Thr340Ser) c.342A>T c.1120A>T (p.Thr374Ser) c.1201A>T (p.Thr401Ser) c.1183A>T (p.Thr395Ser) c.1081A>T (p.Thr361Ser) n.1332-314T>A c.1261A>T (p.Thr421Ser) c.1363A>T (p.Thr455Ser) c.1303A>T (p.Thr435Ser) n.3607-314T>A n.4043-314T>A c.1186A>T (p.Thr396Ser) c.1204A>T (p.Thr402Ser) c.961A>T (p.Thr321Ser) c.994A>T (p.Thr332Ser) c.1012A>T (p.Thr338Ser) | |
| 2 | g.127428579C>A | CA348405477 | PROC | c.1019C>A (p.Thr340Lys) c.343C>A c.1121C>A (p.Thr374Lys) c.1202C>A (p.Thr401Lys) c.1184C>A (p.Thr395Lys) c.1082C>A (p.Thr361Lys) n.1332-315G>T c.1262C>A (p.Thr421Lys) c.1364C>A (p.Thr455Lys) c.1304C>A (p.Thr435Lys) n.3607-315G>T n.4043-315G>T c.1187C>A (p.Thr396Lys) c.1205C>A (p.Thr402Lys) c.962C>A (p.Thr321Lys) c.995C>A (p.Thr332Lys) c.1013C>A (p.Thr338Lys) | ClinVar dbSNP |
| 2 | g.127428579C= | CA1286884534 | PROC | c.1019C= (p.Thr340=) c.343C= c.1121C= (p.Thr374=) c.1202C= (p.Thr401=) c.1184C= (p.Thr395=) c.1082C= (p.Thr361=) n.1332-315G= c.1262C= (p.Thr421=) c.1364C= (p.Thr455=) c.1304C= (p.Thr435=) n.3607-315G= n.4043-315G= c.1187C= (p.Thr396=) c.1205C= (p.Thr402=) c.962C= (p.Thr321=) c.995C= (p.Thr332=) c.1013C= (p.Thr338=) | |
| 2 | g.127428579C>G | CA348405480 | PROC | c.1019C>G (p.Thr340Arg) c.343C>G c.1121C>G (p.Thr374Arg) c.1202C>G (p.Thr401Arg) c.1184C>G (p.Thr395Arg) c.1082C>G (p.Thr361Arg) n.1332-315G>C c.1262C>G (p.Thr421Arg) c.1364C>G (p.Thr455Arg) c.1304C>G (p.Thr435Arg) n.3607-315G>C n.4043-315G>C c.1187C>G (p.Thr396Arg) c.1205C>G (p.Thr402Arg) c.962C>G (p.Thr321Arg) c.995C>G (p.Thr332Arg) c.1013C>G (p.Thr338Arg) | |
| 2 | g.127428579C>T | CA1859504 | PROC | c.1019C>T (p.Thr340Met) c.343C>T c.1121C>T (p.Thr374Met) c.1202C>T (p.Thr401Met) c.1184C>T (p.Thr395Met) c.1082C>T (p.Thr361Met) n.1332-315G>A c.1262C>T (p.Thr421Met) c.1364C>T (p.Thr455Met) c.1304C>T (p.Thr435Met) n.3607-315G>A n.4043-315G>A c.1187C>T (p.Thr396Met) c.1205C>T (p.Thr402Met) c.962C>T (p.Thr321Met) c.995C>T (p.Thr332Met) c.1013C>T (p.Thr338Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428580G>A | CA1859505 | PROC | c.1020G>A (p.Thr340=) c.344G>A c.1122G>A (p.Thr374=) c.1203G>A (p.Thr401=) c.1185G>A (p.Thr395=) c.1083G>A (p.Thr361=) n.1332-316C>T c.1263G>A (p.Thr421=) c.1365G>A (p.Thr455=) c.1305G>A (p.Thr435=) n.3607-316C>T n.4043-316C>T c.1188G>A (p.Thr396=) c.1206G>A (p.Thr402=) c.963G>A (p.Thr321=) c.996G>A (p.Thr332=) c.1014G>A (p.Thr338=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428580G>C | CA428871950 | PROC | c.1020G>C (p.Thr340=) c.344G>C c.1122G>C (p.Thr374=) c.1203G>C (p.Thr401=) c.1185G>C (p.Thr395=) c.1083G>C (p.Thr361=) n.1332-316C>G c.1263G>C (p.Thr421=) c.1365G>C (p.Thr455=) c.1305G>C (p.Thr435=) n.3607-316C>G n.4043-316C>G c.1188G>C (p.Thr396=) c.1206G>C (p.Thr402=) c.963G>C (p.Thr321=) c.996G>C (p.Thr332=) c.1014G>C (p.Thr338=) | |
| 2 | g.127428580G= | CA1286884535 | PROC | c.1020G= (p.Thr340=) c.344G= c.1122G= (p.Thr374=) c.1203G= (p.Thr401=) c.1185G= (p.Thr395=) c.1083G= (p.Thr361=) n.1332-316C= c.1263G= (p.Thr421=) c.1365G= (p.Thr455=) c.1305G= (p.Thr435=) n.3607-316C= n.4043-316C= c.1188G= (p.Thr396=) c.1206G= (p.Thr402=) c.963G= (p.Thr321=) c.996G= (p.Thr332=) c.1014G= (p.Thr338=) | |
| 2 | g.127428580G>T | CA428871952 | PROC | c.1020G>T (p.Thr340=) c.344G>T c.1122G>T (p.Thr374=) c.1203G>T (p.Thr401=) c.1185G>T (p.Thr395=) c.1083G>T (p.Thr361=) n.1332-316C>A c.1263G>T (p.Thr421=) c.1365G>T (p.Thr455=) c.1305G>T (p.Thr435=) n.3607-316C>A n.4043-316C>A c.1188G>T (p.Thr396=) c.1206G>T (p.Thr402=) c.963G>T (p.Thr321=) c.996G>T (p.Thr332=) c.1014G>T (p.Thr338=) | |
| 2 | g.127428581G>A | CA348405490 | PROC | c.1021G>A (p.Gly341Ser) c.345G>A c.1123G>A (p.Gly375Ser) c.1204G>A (p.Gly402Ser) c.1186G>A (p.Gly396Ser) c.1084G>A (p.Gly362Ser) n.1332-317C>T c.1264G>A (p.Gly422Ser) c.1366G>A (p.Gly456Ser) c.1306G>A (p.Gly436Ser) n.3607-317C>T n.4043-317C>T c.1189G>A (p.Gly397Ser) c.1207G>A (p.Gly403Ser) c.964G>A (p.Gly322Ser) c.997G>A (p.Gly333Ser) c.1015G>A (p.Gly339Ser) | COSMIC COSMIC |
| 2 | g.127428581G>C | CA348405493 | PROC | c.1021G>C (p.Gly341Arg) c.345G>C c.1123G>C (p.Gly375Arg) c.1204G>C (p.Gly402Arg) c.1186G>C (p.Gly396Arg) c.1084G>C (p.Gly362Arg) n.1332-317C>G c.1264G>C (p.Gly422Arg) c.1366G>C (p.Gly456Arg) c.1306G>C (p.Gly436Arg) n.3607-317C>G n.4043-317C>G c.1189G>C (p.Gly397Arg) c.1207G>C (p.Gly403Arg) c.964G>C (p.Gly322Arg) c.997G>C (p.Gly333Arg) c.1015G>C (p.Gly339Arg) | |
| 2 | g.127428581G>T | CA348405495 | PROC | c.1021G>T (p.Gly341Cys) c.345G>T c.1123G>T (p.Gly375Cys) c.1204G>T (p.Gly402Cys) c.1186G>T (p.Gly396Cys) c.1084G>T (p.Gly362Cys) n.1332-317C>A c.1264G>T (p.Gly422Cys) c.1366G>T (p.Gly456Cys) c.1306G>T (p.Gly436Cys) n.3607-317C>A n.4043-317C>A c.1189G>T (p.Gly397Cys) c.1207G>T (p.Gly403Cys) c.964G>T (p.Gly322Cys) c.997G>T (p.Gly333Cys) c.1015G>T (p.Gly339Cys) | |
| 2 | g.127428582G>A | CA348405498 | PROC | c.1022G>A (p.Gly341Asp) c.346G>A c.1124G>A (p.Gly375Asp) c.1205G>A (p.Gly402Asp) c.1187G>A (p.Gly396Asp) c.1085G>A (p.Gly362Asp) n.1332-318C>T c.1265G>A (p.Gly422Asp) c.1367G>A (p.Gly456Asp) c.1307G>A (p.Gly436Asp) n.3607-318C>T n.4043-318C>T c.1190G>A (p.Gly397Asp) c.1208G>A (p.Gly403Asp) c.965G>A (p.Gly322Asp) c.998G>A (p.Gly333Asp) c.1016G>A (p.Gly339Asp) | |
| 2 | g.127428582G>C | CA348405501 | PROC | c.1022G>C (p.Gly341Ala) c.346G>C c.1124G>C (p.Gly375Ala) c.1205G>C (p.Gly402Ala) c.1187G>C (p.Gly396Ala) c.1085G>C (p.Gly362Ala) n.1332-318C>G c.1265G>C (p.Gly422Ala) c.1367G>C (p.Gly456Ala) c.1307G>C (p.Gly436Ala) n.3607-318C>G n.4043-318C>G c.1190G>C (p.Gly397Ala) c.1208G>C (p.Gly403Ala) c.965G>C (p.Gly322Ala) c.998G>C (p.Gly333Ala) c.1016G>C (p.Gly339Ala) | |
| 2 | g.127428582G>T | CA348405502 | PROC | c.1022G>T (p.Gly341Val) c.346G>T c.1124G>T (p.Gly375Val) c.1205G>T (p.Gly402Val) c.1187G>T (p.Gly396Val) c.1085G>T (p.Gly362Val) n.1332-318C>A c.1265G>T (p.Gly422Val) c.1367G>T (p.Gly456Val) c.1307G>T (p.Gly436Val) n.3607-318C>A n.4043-318C>A c.1190G>T (p.Gly397Val) c.1208G>T (p.Gly403Val) c.965G>T (p.Gly322Val) c.998G>T (p.Gly333Val) c.1016G>T (p.Gly339Val) | |
| 2 | g.127428583C>A | CA428871963 | PROC | c.1023C>A (p.Gly341=) c.347C>A c.1125C>A (p.Gly375=) c.1206C>A (p.Gly402=) c.1188C>A (p.Gly396=) c.1086C>A (p.Gly362=) n.1332-319G>T c.1266C>A (p.Gly422=) c.1368C>A (p.Gly456=) c.1308C>A (p.Gly436=) n.3607-319G>T n.4043-319G>T c.1191C>A (p.Gly397=) c.1209C>A (p.Gly403=) c.966C>A (p.Gly322=) c.999C>A (p.Gly333=) c.1017C>A (p.Gly339=) | |
| 2 | g.127428583C= | CA1286884536 | PROC | c.1023C= (p.Gly341=) c.347C= c.1125C= (p.Gly375=) c.1206C= (p.Gly402=) c.1188C= (p.Gly396=) c.1086C= (p.Gly362=) n.1332-319G= c.1266C= (p.Gly422=) c.1368C= (p.Gly456=) c.1308C= (p.Gly436=) n.3607-319G= n.4043-319G= c.1191C= (p.Gly397=) c.1209C= (p.Gly403=) c.966C= (p.Gly322=) c.999C= (p.Gly333=) c.1017C= (p.Gly339=) | |
| 2 | g.127428583C>G | CA428871965 | PROC | c.1023C>G (p.Gly341=) c.347C>G c.1125C>G (p.Gly375=) c.1206C>G (p.Gly402=) c.1188C>G (p.Gly396=) c.1086C>G (p.Gly362=) n.1332-319G>C c.1266C>G (p.Gly422=) c.1368C>G (p.Gly456=) c.1308C>G (p.Gly436=) n.3607-319G>C n.4043-319G>C c.1191C>G (p.Gly397=) c.1209C>G (p.Gly403=) c.966C>G (p.Gly322=) c.999C>G (p.Gly333=) c.1017C>G (p.Gly339=) | |
| 2 | g.127428583C>T | CA1859506 | PROC | c.1023C>T (p.Gly341=) c.347C>T c.1125C>T (p.Gly375=) c.1206C>T (p.Gly402=) c.1188C>T (p.Gly396=) c.1086C>T (p.Gly362=) n.1332-319G>A c.1266C>T (p.Gly422=) c.1368C>T (p.Gly456=) c.1308C>T (p.Gly436=) n.3607-319G>A n.4043-319G>A c.1191C>T (p.Gly397=) c.1209C>T (p.Gly403=) c.966C>T (p.Gly322=) c.999C>T (p.Gly333=) c.1017C>T (p.Gly339=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127428584T>A | CA348405505 | PROC | c.1024T>A (p.Trp342Arg) c.348T>A c.1126T>A (p.Trp376Arg) c.1207T>A (p.Trp403Arg) c.1189T>A (p.Trp397Arg) c.1087T>A (p.Trp363Arg) n.1332-320A>T c.1267T>A (p.Trp423Arg) c.1369T>A (p.Trp457Arg) c.1309T>A (p.Trp437Arg) n.3607-320A>T n.4043-320A>T c.1192T>A (p.Trp398Arg) c.1210T>A (p.Trp404Arg) c.967T>A (p.Trp323Arg) c.1000T>A (p.Trp334Arg) c.1018T>A (p.Trp340Arg) | |
| 2 | g.127428584T>C | CA348405507 | PROC | c.1024T>C (p.Trp342Arg) c.348T>C c.1126T>C (p.Trp376Arg) c.1207T>C (p.Trp403Arg) c.1189T>C (p.Trp397Arg) c.1087T>C (p.Trp363Arg) n.1332-320A>G c.1267T>C (p.Trp423Arg) c.1369T>C (p.Trp457Arg) c.1309T>C (p.Trp437Arg) n.3607-320A>G n.4043-320A>G c.1192T>C (p.Trp398Arg) c.1210T>C (p.Trp404Arg) c.967T>C (p.Trp323Arg) c.1000T>C (p.Trp334Arg) c.1018T>C (p.Trp340Arg) | |
| 2 | g.127428584T>G | CA348405514 | PROC | c.1024T>G (p.Trp342Gly) c.348T>G c.1126T>G (p.Trp376Gly) c.1207T>G (p.Trp403Gly) c.1189T>G (p.Trp397Gly) c.1087T>G (p.Trp363Gly) n.1332-320A>C c.1267T>G (p.Trp423Gly) c.1369T>G (p.Trp457Gly) c.1309T>G (p.Trp437Gly) n.3607-320A>C n.4043-320A>C c.1192T>G (p.Trp398Gly) c.1210T>G (p.Trp404Gly) c.967T>G (p.Trp323Gly) c.1000T>G (p.Trp334Gly) c.1018T>G (p.Trp340Gly) | |
| 2 | g.127428585G>A | CA348405518 | PROC | c.1025G>A (p.Trp342Ter) c.349G>A c.1127G>A (p.Trp376Ter) c.1208G>A (p.Trp403Ter) c.1190G>A (p.Trp397Ter) c.1088G>A (p.Trp363Ter) n.1332-321C>T c.1268G>A (p.Trp423Ter) c.1370G>A (p.Trp457Ter) c.1310G>A (p.Trp437Ter) n.3607-321C>T n.4043-321C>T c.1193G>A (p.Trp398Ter) c.1211G>A (p.Trp404Ter) c.968G>A (p.Trp323Ter) c.1001G>A (p.Trp334Ter) c.1019G>A (p.Trp340Ter) | |
| 2 | g.127428585G>C | CA348405523 | PROC | c.1025G>C (p.Trp342Ser) c.349G>C c.1127G>C (p.Trp376Ser) c.1208G>C (p.Trp403Ser) c.1190G>C (p.Trp397Ser) c.1088G>C (p.Trp363Ser) n.1332-321C>G c.1268G>C (p.Trp423Ser) c.1370G>C (p.Trp457Ser) c.1310G>C (p.Trp437Ser) n.3607-321C>G n.4043-321C>G c.1193G>C (p.Trp398Ser) c.1211G>C (p.Trp404Ser) c.968G>C (p.Trp323Ser) c.1001G>C (p.Trp334Ser) c.1019G>C (p.Trp340Ser) | |
| 2 | g.127428585G>T | CA348405524 | PROC | c.1025G>T (p.Trp342Leu) c.349G>T c.1127G>T (p.Trp376Leu) c.1208G>T (p.Trp403Leu) c.1190G>T (p.Trp397Leu) c.1088G>T (p.Trp363Leu) n.1332-321C>A c.1268G>T (p.Trp423Leu) c.1370G>T (p.Trp457Leu) c.1310G>T (p.Trp437Leu) n.3607-321C>A n.4043-321C>A c.1193G>T (p.Trp398Leu) c.1211G>T (p.Trp404Leu) c.968G>T (p.Trp323Leu) c.1001G>T (p.Trp334Leu) c.1019G>T (p.Trp340Leu) | |
| 2 | g.127428588del | CA2586969914 | PROC | c.1028del (p.Gly343AlafsTer?) c.352del c.1130del (p.Gly377AlafsTer?) c.1211del (p.Gly404AlafsTer?) c.1193del (p.Gly398AlafsTer?) c.1091del (p.Gly364AlafsTer?) n.1332-321del c.1271del (p.Gly424AlafsTer?) c.1373del (p.Gly458AlafsTer?) c.1313del (p.Gly438AlafsTer?) n.3607-321del n.4043-321del c.1196del (p.Gly399AlafsTer?) c.1214del (p.Gly405AlafsTer?) c.971del (p.Gly324AlafsTer?) c.1004del (p.Gly335AlafsTer?) c.1022del (p.Gly341AlafsTer?) | dbSNP |
| 2 | g.127428586G>A | CA348405527 | PROC | c.1026G>A (p.Trp342Ter) c.350G>A c.1128G>A (p.Trp376Ter) c.1209G>A (p.Trp403Ter) c.1191G>A (p.Trp397Ter) c.1089G>A (p.Trp363Ter) n.1332-322C>T c.1269G>A (p.Trp423Ter) c.1371G>A (p.Trp457Ter) c.1311G>A (p.Trp437Ter) n.3607-322C>T n.4043-322C>T c.1194G>A (p.Trp398Ter) c.1212G>A (p.Trp404Ter) c.969G>A (p.Trp323Ter) c.1002G>A (p.Trp334Ter) c.1020G>A (p.Trp340Ter) | |
| 2 | g.127428586G>C | CA1859507 | PROC | c.1026G>C (p.Trp342Cys) c.350G>C c.1128G>C (p.Trp376Cys) c.1209G>C (p.Trp403Cys) c.1191G>C (p.Trp397Cys) c.1089G>C (p.Trp363Cys) n.1332-322C>G c.1269G>C (p.Trp423Cys) c.1371G>C (p.Trp457Cys) c.1311G>C (p.Trp437Cys) n.3607-322C>G n.4043-322C>G c.1194G>C (p.Trp398Cys) c.1212G>C (p.Trp404Cys) c.969G>C (p.Trp323Cys) c.1002G>C (p.Trp334Cys) c.1020G>C (p.Trp340Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127428586G= | CA1286884537 | PROC | c.1026G= (p.Trp342=) c.350G= c.1128G= (p.Trp376=) c.1209G= (p.Trp403=) c.1191G= (p.Trp397=) c.1089G= (p.Trp363=) n.1332-322C= c.1269G= (p.Trp423=) c.1371G= (p.Trp457=) c.1311G= (p.Trp437=) n.3607-322C= n.4043-322C= c.1194G= (p.Trp398=) c.1212G= (p.Trp404=) c.969G= (p.Trp323=) c.1002G= (p.Trp334=) c.1020G= (p.Trp340=) | |
| 2 | g.127428586G>T | CA348405531 | PROC | c.1026G>T (p.Trp342Cys) c.350G>T c.1128G>T (p.Trp376Cys) c.1209G>T (p.Trp403Cys) c.1191G>T (p.Trp397Cys) c.1089G>T (p.Trp363Cys) n.1332-322C>A c.1269G>T (p.Trp423Cys) c.1371G>T (p.Trp457Cys) c.1311G>T (p.Trp437Cys) n.3607-322C>A n.4043-322C>A c.1194G>T (p.Trp398Cys) c.1212G>T (p.Trp404Cys) c.969G>T (p.Trp323Cys) c.1002G>T (p.Trp334Cys) c.1020G>T (p.Trp340Cys) | |
| 2 | g.127428587G>A | CA114399 | PROC | c.1027G>A (p.Gly343Ser) c.351G>A c.1129G>A (p.Gly377Ser) c.1210G>A (p.Gly404Ser) c.1192G>A (p.Gly398Ser) c.1090G>A (p.Gly364Ser) n.1332-323C>T c.1270G>A (p.Gly424Ser) c.1372G>A (p.Gly458Ser) c.1312G>A (p.Gly438Ser) n.3607-323C>T n.4043-323C>T c.1195G>A (p.Gly399Ser) c.1213G>A (p.Gly405Ser) c.970G>A (p.Gly324Ser) c.1003G>A (p.Gly335Ser) c.1021G>A (p.Gly341Ser) | ClinVar dbSNP |
| 2 | g.127428587G>C | CA348405536 | PROC | c.1027G>C (p.Gly343Arg) c.351G>C c.1129G>C (p.Gly377Arg) c.1210G>C (p.Gly404Arg) c.1192G>C (p.Gly398Arg) c.1090G>C (p.Gly364Arg) n.1332-323C>G c.1270G>C (p.Gly424Arg) c.1372G>C (p.Gly458Arg) c.1312G>C (p.Gly438Arg) n.3607-323C>G n.4043-323C>G c.1195G>C (p.Gly399Arg) c.1213G>C (p.Gly405Arg) c.970G>C (p.Gly324Arg) c.1003G>C (p.Gly335Arg) c.1021G>C (p.Gly341Arg) | |
| 2 | g.127428587G= | CA1286884538 | PROC | c.1027G= (p.Gly343=) c.351G= c.1129G= (p.Gly377=) c.1210G= (p.Gly404=) c.1192G= (p.Gly398=) c.1090G= (p.Gly364=) n.1332-323C= c.1270G= (p.Gly424=) c.1372G= (p.Gly458=) c.1312G= (p.Gly438=) n.3607-323C= n.4043-323C= c.1195G= (p.Gly399=) c.1213G= (p.Gly405=) c.970G= (p.Gly324=) c.1003G= (p.Gly335=) c.1021G= (p.Gly341=) | |
| 2 | g.127428587G>T | CA348405538 | PROC | c.1027G>T (p.Gly343Cys) c.351G>T c.1129G>T (p.Gly377Cys) c.1210G>T (p.Gly404Cys) c.1192G>T (p.Gly398Cys) c.1090G>T (p.Gly364Cys) n.1332-323C>A c.1270G>T (p.Gly424Cys) c.1372G>T (p.Gly458Cys) c.1312G>T (p.Gly438Cys) n.3607-323C>A n.4043-323C>A c.1195G>T (p.Gly399Cys) c.1213G>T (p.Gly405Cys) c.970G>T (p.Gly324Cys) c.1003G>T (p.Gly335Cys) c.1021G>T (p.Gly341Cys) | |
| 2 | g.127428587_127428596delinsGGCTACCACA | CA1286884539 | PROC | c.1027_1036delinsGGCTACCACA (p.Gly343=) c.351_360delinsGGCTACCACA c.1129_1138delinsGGCTACCACA (p.Gly377=) c.1210_1219delinsGGCTACCACA (p.Gly404=) c.1192_1201delinsGGCTACCACA (p.Gly398=) c.1090_1099delinsGGCTACCACA (p.Gly364=) n.1332-332_1332-323delinsTGTGGTAGCC c.1270_1279delinsGGCTACCACA (p.Gly424=) c.1372_1381delinsGGCTACCACA (p.Gly458=) c.1312_1321delinsGGCTACCACA (p.Gly438=) n.3607-332_3607-323delinsTGTGGTAGCC n.4043-332_4043-323delinsTGTGGTAGCC c.1195_1204delinsGGCTACCACA (p.Gly399=) c.1213_1222delinsGGCTACCACA (p.Gly405=) c.970_979delinsGGCTACCACA (p.Gly324=) c.1003_1012delinsGGCTACCACA (p.Gly335=) c.1021_1030delinsGGCTACCACA (p.Gly341=) | |
| 2 | g.127428588G>A | CA348405547 | PROC | c.1028G>A (p.Gly343Asp) c.352G>A c.1130G>A (p.Gly377Asp) c.1211G>A (p.Gly404Asp) c.1193G>A (p.Gly398Asp) c.1091G>A (p.Gly364Asp) n.1332-324C>T c.1271G>A (p.Gly424Asp) c.1373G>A (p.Gly458Asp) c.1313G>A (p.Gly438Asp) n.3607-324C>T n.4043-324C>T c.1196G>A (p.Gly399Asp) c.1214G>A (p.Gly405Asp) c.971G>A (p.Gly324Asp) c.1004G>A (p.Gly335Asp) c.1022G>A (p.Gly341Asp) | gnomAD v4 |