UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 2 | g.127428473C= | CA1286884491 | PROC | c.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=) | |
| 2 | g.127428473C>G | CA348404806 | PROC | c.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) | |
| 2 | g.127428473C>T | CA428618919 | PROC | c.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 |
| 2 | g.127428473_127428474delinsCT | CA1286884490 | PROC | c.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=) | |
| 2 | g.127428474_127428477dup | CA2586969910 | PROC | c.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?) | |
| 2 | g.127428474del | CA55350734 | PROC | c.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 |
| 2 | g.127428474T>A | CA348404816 | PROC | c.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) | |
| 2 | g.127428474T>C | CA348404810 | PROC | c.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) | |
| 2 | g.127428474T>G | CA348404813 | PROC | c.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 |
| 2 | g.127428474T= | CA1286884492 | PROC | c.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=) | |
| 2 | g.127428474_127428476dup | CA2586969911 | PROC | c.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) | |
| 2 | g.127428475G>A | CA428618920 | PROC | c.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 |
| 2 | g.127428475G>C | CA428618921 | PROC | c.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=) | |
| 2 | g.127428475G>T | CA428618922 | PROC | c.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=) | |
| 2 | g.127428476G>A | CA348404819 | PROC | c.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) | |
| 2 | g.127428476G>C | CA348404822 | PROC | c.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) | |
| 2 | g.127428476G= | CA1286884493 | PROC | c.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=) | |
| 2 | g.127428476G>T | CA348404824 | PROC | c.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 |
| 2 | g.127428477C>A | CA348404827 | PROC | c.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) | |
| 2 | g.127428477C>G | CA348404829 | PROC | c.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) | |
| 2 | g.127428477C>T | CA348404832 | PROC | c.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) | |
| 2 | g.127428478C>A | CA428618923 | PROC | c.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=) | |
| 2 | g.127428478C>G | CA428618924 | PROC | c.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=) | |
| 2 | g.127428478C>T | CA428618925 | PROC | c.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 |
| 2 | g.127428479C>A | CA348404835 | PROC | c.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) |