Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.127428479dup | CA2842965951 | PROC | c.919dup (p.Gln307ProfsTer?) c.243dup c.1021dup (p.Gln341ProfsTer?) c.1102dup (p.Gln368ProfsTer?) c.1084dup (p.Gln362ProfsTer?) c.982dup (p.Gln328ProfsTer?) n.1332-213dup c.1162dup (p.Gln388ProfsTer?) c.1264dup (p.Gln422ProfsTer?) c.1204dup (p.Gln402ProfsTer?) n.3607-213dup n.4043-213dup c.1087dup (p.Gln363ProfsTer?) c.1105dup (p.Gln369ProfsTer?) c.862dup (p.Gln288ProfsTer?) c.895dup (p.Gln299ProfsTer?) c.913dup (p.Gln305ProfsTer?) | |
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) | |
2 | g.127428479C>G | CA348404838 | PROC | c.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) | |
2 | g.127428479C>T | CA348404841 | PROC | c.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) | |
2 | g.127428480del | CA2660997777 | PROC | c.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 |
2 | g.127428480A>C | CA348404845 | PROC | c.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) | |
2 | g.127428480A>G | CA348404847 | PROC | c.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 |
2 | g.127428480A>T | CA348404851 | PROC | c.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) | |
2 | g.127428481G>A | CA428618926 | PROC | c.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=) | |
2 | g.127428481G>C | CA348404855 | PROC | c.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) | |
2 | g.127428481G>T | CA348404857 | PROC | c.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) | |
2 | g.127428482C>A | CA348404861 | PROC | c.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 |
2 | g.127428482C= | CA1286884494 | PROC | c.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=) | |
2 | g.127428482C>G | CA348404866 | PROC | c.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 |
2 | g.127428482C>T | CA348404863 | PROC | c.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) | |
2 | g.127428483C>A | CA348404869 | PROC | c.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) | |
2 | g.127428483C>G | CA348404875 | PROC | c.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) | |
2 | g.127428483C>T | CA348404871 | PROC | c.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) | |
2 | g.127428484C>A | CA428871465 | PROC | c.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 |
2 | g.127428484C= | CA1286884495 | PROC | c.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=) | |
2 | g.127428484C>G | CA428871467 | PROC | c.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=) | |
2 | g.127428484C>T | CA1859487 | PROC | c.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 |
2 | g.127428485G>A | CA114396 | PROC | c.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 |
2 | g.127428485G>C | CA348404879 | PROC | c.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 |
2 | g.127428485G= | CA1286884496 | PROC | c.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=) | |
2 | g.127428485G>T | CA348404882 | PROC | c.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) | |
2 | g.127428486C>A | CA348404888 | PROC | c.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) | |
2 | g.127428486C>G | CA348404890 | PROC | c.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) | |
2 | g.127428486C>T | CA348404891 | PROC | c.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) | |
2 | g.127428487C>A | CA428871483 | PROC | c.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 |
2 | g.127428487C= | CA1286884497 | PROC | c.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=) | |
2 | g.127428487C>G | CA428871485 | PROC | c.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=) | |
2 | g.127428487C>T | CA1859488 | PROC | c.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 |
2 | g.127428488A>C | CA348404892 | PROC | c.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) | |
2 | g.127428488A>G | CA348404895 | PROC | c.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) | |
2 | g.127428488A>T | CA348404906 | PROC | c.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) | |
2 | g.127428489C>A | CA348404916 | PROC | c.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 |
2 | g.127428489C>G | CA348404913 | PROC | c.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) | |
2 | g.127428489C>T | CA348404910 | PROC | c.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 |
2 | g.127428490C>A | CA428871499 | PROC | c.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=) | |
2 | g.127428490C= | CA1286884498 | PROC | c.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=) | |
2 | g.127428490C>G | CA428871503 | PROC | c.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=) | |
2 | g.127428490C>T | CA428871501 | PROC | c.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 |
2 | g.127428491C>A | CA348404920 | PROC | c.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) | |
2 | g.127428491C= | CA1286884499 | PROC | c.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=) | |
2 | g.127428491C>G | CA348404925 | PROC | c.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) | |
2 | g.127428491C>T | CA348404928 | PROC | c.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 |
2 | g.127428492T>A | CA348404932 | PROC | c.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) | |
2 | g.127428492T>C | CA348404934 | PROC | c.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) | |
2 | g.127428492T>G | CA348404936 | PROC | c.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) | |
2 | g.127428493C>A | CA428871518 | PROC | c.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=) | |
2 | g.127428493C>G | CA428871516 | PROC | c.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=) | |
2 | g.127428493C>T | CA428871514 | PROC | c.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=) | |
2 | g.127428493dup | CA2842965952 | PROC | c.933dup (p.Ser312LeufsTer?) c.257dup c.1035dup (p.Ser346LeufsTer?) c.1116dup (p.Ser373LeufsTer?) c.1098dup (p.Ser367LeufsTer?) c.996dup (p.Ser333LeufsTer?) n.1332-229dup c.1176dup (p.Ser393LeufsTer?) c.1278dup (p.Ser427LeufsTer?) c.1218dup (p.Ser407LeufsTer?) n.3607-229dup n.4043-229dup c.1101dup (p.Ser368LeufsTer?) c.1119dup (p.Ser374LeufsTer?) c.876dup (p.Ser293LeufsTer?) c.909dup (p.Ser304LeufsTer?) c.927dup (p.Ser310LeufsTer?) | |
2 | g.127428494T>A | CA348404943 | PROC | c.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) | |
2 | g.127428494T>C | CA348404947 | PROC | c.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) | |
2 | g.127428494T>G | CA348404948 | PROC | c.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) | |
2 | g.127428495C>A | CA348404950 | PROC | c.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 |
2 | g.127428495C= | CA1286884500 | PROC | c.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=) | |
2 | g.127428495C>G | CA348404952 | PROC | c.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) | |
2 | g.127428495C>T | CA114431 | PROC | c.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 |
2 | g.127428496G>A | CA1859489 | PROC | c.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 |
2 | g.127428496G>C | CA428871534 | PROC | c.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=) | |
2 | g.127428496G= | CA1286884501 | PROC | c.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=) | |
2 | g.127428496G>T | CA428871531 | PROC | c.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=) | |
2 | g.127428497C>A | CA348404960 | PROC | c.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) | |
2 | g.127428497C>G | CA348404957 | PROC | c.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) | |
2 | g.127428497C>T | CA348404958 | PROC | c.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 |
2 | g.127428498A>C | CA348404962 | PROC | c.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) | |
2 | g.127428498A>G | CA348404963 | PROC | c.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) | |
2 | g.127428498A>T | CA348404964 | PROC | c.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) | |
2 | g.127428499G>A | CA428871545 | PROC | c.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=) | |
2 | g.127428499G>C | CA348404966 | PROC | c.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) | |
2 | g.127428499G>T | CA348404968 | PROC | c.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) | |
2 | g.127428500A>C | CA348404972 | PROC | c.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) | |
2 | g.127428500A>G | CA348404975 | PROC | c.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) | |
2 | g.127428500A>T | CA348404973 | PROC | c.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) | |
2 | g.127428501C>A | CA348404976 | PROC | c.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) | |
2 | g.127428501C>G | CA348404977 | PROC | c.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) | |
2 | g.127428501C>T | CA348404978 | PROC | c.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) | |
2 | g.127428502C>A | CA428871558 | PROC | c.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=) | |
2 | g.127428502C= | CA1286884502 | PROC | c.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=) | |
2 | g.127428502C>G | CA1859490 | PROC | c.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 |
2 | g.127428502C>T | CA428871561 | PROC | c.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 |
2 | g.127428503A>C | CA348404980 | PROC | c.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) | |
2 | g.127428503A>G | CA348404984 | PROC | c.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) | |
2 | g.127428503A>T | CA348404981 | PROC | c.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) | |
2 | g.127428504T>A | CA348404990 | PROC | c.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) | |
2 | g.127428504T>C | CA348404992 | PROC | c.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) | |
2 | g.127428504T>G | CA348404993 | PROC | c.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) | |
2 | g.127428505A= | CA1286884503 | PROC | c.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=) | |
2 | g.127428505A>C | CA428871573 | PROC | c.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=) | |
2 | g.127428505A>G | CA348404995 | PROC | c.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 |
2 | g.127428505A>T | CA428871576 | PROC | c.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=) | |
2 | g.127428506G>A | CA55350797 | PROC | c.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 |
2 | g.127428506G>C | CA348404998 | PROC | c.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 |
2 | g.127428506G= | CA1286884504 | PROC | c.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=) | |
2 | g.127428506G>T | CA348404999 | PROC | c.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) | |
2 | g.127428506dup | CA2838269243 | PROC | c.946dup (p.Val316GlyfsTer?) c.270dup c.1048dup (p.Val350GlyfsTer?) c.1129dup (p.Val377GlyfsTer?) c.1111dup (p.Val371GlyfsTer?) c.1009dup (p.Val337GlyfsTer?) n.1332-242dup c.1189dup (p.Val397GlyfsTer?) c.1291dup (p.Val431GlyfsTer?) c.1231dup (p.Val411GlyfsTer?) n.3607-242dup n.4043-242dup c.1114dup (p.Val372GlyfsTer?) c.1132dup (p.Val378GlyfsTer?) c.889dup (p.Val297GlyfsTer?) c.922dup (p.Val308GlyfsTer?) c.940dup (p.Val314GlyfsTer?) | |
2 | g.127428507T>A | CA348405002 | PROC | c.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) | |
2 | g.127428507T>C | CA348405005 | PROC | c.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 |
2 | g.127428507T>G | CA348405007 | PROC | c.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) | |
2 | g.127428507T= | CA1286884505 | PROC | c.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=) | |
2 | g.127428508G>A | CA428871584 | PROC | c.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=) | |
2 | g.127428508G>C | CA428871585 | PROC | c.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=) | |
2 | g.127428508G>T | CA428871587 | PROC | c.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=) | |
2 | g.127428509C>A | CA348405012 | PROC | c.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) | |
2 | g.127428509C>G | CA348405009 | PROC | c.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) | |
2 | g.127428509C>T | CA348405008 | PROC | c.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) | |
2 | g.127428510C>A | CA348405017 | PROC | c.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) | |
2 | g.127428510C>G | CA348405025 | PROC | c.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) | |
2 | g.127428510C>T | CA348405020 | PROC | c.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) | |
2 | g.127428511C>A | CA1859491 | PROC | c.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 |
2 | g.127428511C= | CA1286884506 | PROC | c.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=) | |
2 | g.127428511C>G | CA428871601 | PROC | c.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=) | |
2 | g.127428511C>T | CA428871599 | PROC | c.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=) | |
2 | g.127428512A>C | CA348405027 | PROC | c.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) | |
2 | g.127428512A>G | CA348405030 | PROC | c.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) | |
2 | g.127428512A>T | CA348405031 | PROC | c.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) | |
2 | g.127428513T>A | CA348405043 | PROC | c.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) | |
2 | g.127428513T>C | CA348405046 | PROC | c.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) | |
2 | g.127428513T>G | CA348405048 | PROC | c.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) | |
2 | g.127428514C>A | CA428871613 | PROC | c.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=) | |
2 | g.127428514C>G | CA348405050 | PROC | c.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) | |
2 | g.127428514C>T | CA428871617 | PROC | c.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=) | |
2 | g.127428516_127428534del | CA2660997778 | PROC | c.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 |
2 | g.127428515T>A | CA348405052 | PROC | c.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) | |
2 | g.127428515T>C | CA348405055 | PROC | c.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) | |
2 | g.127428515T>G | CA348405058 | PROC | c.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) | |
2 | g.127428516G>A | CA348405067 | PROC | c.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) | |
2 | g.127428516G>C | CA348405061 | PROC | c.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) | |
2 | g.127428516G>T | CA348405063 | PROC | c.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) | |
2 | g.127428517C>A | CA348405071 | PROC | c.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) | |
2 | g.127428517C= | CA1286884507 | PROC | c.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=) | |
2 | g.127428517C>G | CA348405073 | PROC | c.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) | |
2 | g.127428517C>T | CA428871640 | PROC | c.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 |
2 | g.127428518C>A | CA348405076 | PROC | c.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) | |
2 | g.127428518C>G | CA348405077 | PROC | c.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) | |
2 | g.127428518C>T | CA348405078 | PROC | c.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) | |
2 | g.127428519T>A | CA348405079 | PROC | c.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) | |
2 | g.127428519T>C | CA348405081 | PROC | c.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) | |
2 | g.127428519T>G | CA348405094 | PROC | c.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) | |
2 | g.127428520C>A | CA428871657 | PROC | c.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=) | |
2 | g.127428520C>G | CA428871659 | PROC | c.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=) | |
2 | g.127428520C>T | CA428871660 | PROC | c.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=) | |
2 | g.127428521C>A | CA348405096 | PROC | c.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) | |
2 | g.127428521C>G | CA348405097 | PROC | c.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) | |
2 | g.127428521C>T | CA348405098 | PROC | c.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 |
2 | g.127428522C>A | CA348405101 | PROC | c.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) | |
2 | g.127428522C= | CA1286884508 | PROC | c.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=) | |
2 | g.127428522C>G | CA348405104 | PROC | c.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) | |
2 | g.127428522C>T | CA348405099 | PROC | c.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 |
2 | g.127428523G>A | CA1859493 | PROC | c.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 |
2 | g.127428523G>C | CA1859492 | PROC | c.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 |
2 | g.127428523G= | CA1286884509 | PROC | c.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=) | |
2 | g.127428523G>T | CA428871675 | PROC | c.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=) | |
2 | g.127428524del | CA2586969912 | PROC | c.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 |
2 | g.127428524G>A | CA348405110 | PROC | c.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) | |
2 | g.127428524G>C | CA348405113 | PROC | c.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) | |
2 | g.127428524G>T | CA348405115 | PROC | c.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) | |
2 | g.127428525A>C | CA348405123 | PROC | c.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) | |
2 | g.127428525A>G | CA348405121 | PROC | c.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 |
2 | g.127428525A>T | CA348405118 | PROC | c.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) | |
2 | g.127428526C>A | CA348405126 | PROC | c.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) | |
2 | g.127428526C= | CA1286884510 | PROC | c.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=) | |
2 | g.127428526C>G | CA348405127 | PROC | c.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) | |
2 | g.127428526C>T | CA1859494 | PROC | c.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 |
2 | g.127428529_127428539del | CA2586969913 | PROC | c.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?) | |
2 | g.127428527A>C | CA348405129 | PROC | c.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 |
2 | g.127428527A>G | CA348405131 | PROC | c.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) | |
2 | g.127428527A>T | CA348405133 | PROC | c.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) | |
2 | g.127428528G>A | CA348405136 | PROC | c.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) | |
2 | g.127428528G>C | CA348405140 | PROC | c.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) | |
2 | g.127428528G>T | CA348405138 | PROC | c.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) | |
2 | g.127428529C>A | CA1859496 | PROC | c.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 |
2 | g.127428529C= | CA1286884511 | PROC | c.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=) | |
2 | g.127428529C>G | CA348405147 | PROC | c.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 |
2 | g.127428529C>T | CA1859495 | PROC | c.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 |
2 | g.127428530G>A | CA1859497 | PROC | c.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 |
2 | g.127428530G>C | CA348405154 | PROC | c.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) | |
2 | g.127428530G= | CA1286884512 | PROC | c.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=) | |
2 | g.127428530G>T | CA348405155 | PROC | c.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) | |
2 | g.127428531G>A | CA348405156 | PROC | c.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 |
2 | g.127428531G>C | CA348405157 | PROC | c.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) | |
2 | g.127428531G>T | CA348405160 | PROC | c.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) | |
2 | g.127428532C>A | CA428871714 | PROC | c.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 |
2 | g.127428532C= | CA1286884513 | PROC | c.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=) | |
2 | g.127428532C>G | CA428871713 | PROC | c.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=) | |
2 | g.127428532C>T | CA428871716 | PROC | c.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=) | |
2 | g.127428533C>A | CA348405166 | PROC | c.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 |
2 | g.127428533C= | CA1286884514 | PROC | c.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=) | |
2 | g.127428533C>G | CA348405168 | PROC | c.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) | |
2 | g.127428533C>T | CA348405170 | PROC | c.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) | |
2 | g.127428534T>A | CA348405185 | PROC | c.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) | |
2 | g.127428534T>C | CA348405184 | PROC | c.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) | |
2 | g.127428534T>G | CA348405182 | PROC | c.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 |
2 | g.127428534T= | CA1286884515 | PROC | c.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=) | |
2 | g.127428535T>A | CA428871730 | PROC | c.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=) | |
2 | g.127428535T>C | CA428871732 | PROC | c.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=) | |
2 | g.127428535T>G | CA428871733 | PROC | c.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=) | |
2 | g.127428536G>A | CA348405186 | PROC | c.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) | |
2 | g.127428536G>C | CA348405188 | PROC | c.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) | |
2 | g.127428536G>T | CA348405187 | PROC | c.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) | |
2 | g.127428537C>A | CA348405191 | PROC | c.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) | |
2 | g.127428537C>G | CA348405195 | PROC | c.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) | |
2 | g.127428537C>T | CA348405192 | PROC | c.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 |
2 | g.127428538A>C | CA428871745 | PROC | c.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=) | |
2 | g.127428538A>G | CA428871747 | PROC | c.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=) | |
2 | g.127428538A>T | CA428871749 | PROC | c.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=) | |
2 | g.127428539G>A | CA348405199 | PROC | c.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 |
2 | g.127428539G>C | CA348405201 | PROC | c.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 |
2 | g.127428539G= | CA1286884516 | PROC | c.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=) | |
2 | g.127428539G>T | CA348405207 | PROC | c.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) | |
2 | g.127428540A= | CA1286884517 | PROC | c.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=) | |
2 | g.127428540A>C | CA348405209 | PROC | c.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) | |
2 | g.127428540A>G | CA348405212 | PROC | c.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) | |
2 | g.127428540A>T | CA55350850 | PROC | c.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 |
2 | g.127428541G>A | CA428871762 | PROC | c.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 |
2 | g.127428541G>C | CA348405214 | PROC | c.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) | |
2 | g.127428541G>T | CA348405215 | PROC | c.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) | |
2 | g.127428542C>A | CA348405216 | PROC | c.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) | |
2 | g.127428542C= | CA1286884518 | PROC | c.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=) | |
2 | g.127428542C>G | CA348405217 | PROC | c.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) | |
2 | g.127428542C>T | CA55350874 | PROC | c.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 |
2 | g.127428543G>A | CA348405226 | PROC | c.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 |
2 | g.127428543G>C | CA348405223 | PROC | c.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) | |
2 | g.127428543G= | CA1286884519 | PROC | c.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=) | |
2 | g.127428543G>T | CA348405221 | PROC | c.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) | |
2 | g.127428544del | CA2660997779 | PROC | c.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 |
2 | g.127428544C>A | CA428871773 | PROC | c.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 |
2 | g.127428544C= | CA1286884520 | PROC | c.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=) | |
2 | g.127428544C>G | CA428871774 | PROC | c.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=) | |
2 | g.127428544C>T | CA1859498 | PROC | c.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 |
2 | g.127428545G>A | CA1859499 | PROC | c.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 |
2 | g.127428545G>C | CA348405234 | PROC | c.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) | |
2 | g.127428545G= | CA1286884521 | PROC | c.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=) | |
2 | g.127428545G>T | CA348405236 | PROC | c.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) | |
2 | g.127428546A>C | CA348405240 | PROC | c.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) | |
2 | g.127428546A>G | CA348405244 | PROC | c.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) | |
2 | g.127428546A>T | CA348405247 | PROC | c.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) | |
2 | g.127428547G>A | CA428871790 | PROC | c.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=) | |
2 | g.127428547G>C | CA348405254 | PROC | c.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) | |
2 | g.127428547G>T | CA348405256 | PROC | c.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) | |
2 | g.127428548C>A | CA348405265 | PROC | c.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) | |
2 | g.127428548C>G | CA348405267 | PROC | c.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) | |
2 | g.127428548C>T | CA348405268 | PROC | c.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 |
2 | g.127428549T>A | CA348405273 | PROC | c.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) | |
2 | g.127428549T>C | CA348405270 | PROC | c.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 |
2 | g.127428549T>G | CA348405269 | PROC | c.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) | |
2 | g.127428550C>A | CA428871800 | PROC | c.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=) | |
2 | g.127428550C>G | CA428871802 | PROC | c.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=) | |
2 | g.127428550C>T | CA428871804 | PROC | c.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 |
2 | g.127428551A= | CA1286884522 | PROC | c.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=) | |
2 | g.127428551A>C | CA348405278 | PROC | c.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 |
2 | g.127428551A>G | CA348405276 | PROC | c.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) | |
2 | g.127428551A>T | CA348405277 | PROC | c.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 |
2 | g.127428552A= | CA1286884523 | PROC | c.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=) | |
2 | g.127428552A>C | CA348405279 | PROC | c.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) | |
2 | g.127428552A>G | CA1859500 | PROC | c.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 |
2 | g.127428552A>T | CA348405282 | PROC | c.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) | |
2 | g.127428553T>A | CA348405283 | PROC | c.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) | |
2 | g.127428553T>C | CA428871821 | PROC | c.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=) | |
2 | g.127428553T>G | CA348405286 | PROC | c.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) | |
2 | g.127428554C>A | CA348405290 | PROC | c.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) | |
2 | g.127428554C= | CA1286884524 | PROC | c.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=) | |
2 | g.127428554C>G | CA1859501 | PROC | c.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 |
2 | g.127428554C>T | CA348405294 | PROC | c.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 |
2 | g.127428555A>C | CA348405297 | PROC | c.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) | |
2 | g.127428555A>G | CA348405299 | PROC | c.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) | |
2 | g.127428555A>T | CA348405301 | PROC | c.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) | |
2 | g.127428556G>A | CA428871833 | PROC | c.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 |
2 | g.127428556G>C | CA348405307 | PROC | c.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 |
2 | g.127428556G= | CA1286884525 | PROC | c.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=) | |
2 | g.127428556G>T | CA348405305 | PROC | c.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) | |
2 | g.127428557G>A | CA348405312 | PROC | c.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 |
2 | g.127428557G>C | CA348405314 | PROC | c.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) | |
2 | g.127428557G>T | CA348405316 | PROC | c.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) | |
2 | g.127428558C>A | CA348405319 | PROC | c.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) | |
2 | g.127428558C>G | CA348405322 | PROC | c.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) | |
2 | g.127428558C>T | CA348405325 | PROC | c.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 |
2 | g.127428559C>A | CA428871847 | PROC | c.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=) | |
2 | g.127428559C= | CA1286884526 | PROC | c.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=) | |
2 | g.127428559C>G | CA428871849 | PROC | c.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=) | |
2 | g.127428559C>T | CA1859502 | PROC | c.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 |
2 | g.127428560G>A | CA114406 | PROC | c.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 |
2 | g.127428560G>C | CA348405332 | PROC | c.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 |
2 | g.127428560G= | CA1286884527 | PROC | c.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=) | |
2 | g.127428560G>T | CA348405334 | PROC | c.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 |
2 | g.127428561G>A | CA348405344 | PROC | c.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) | |
2 | g.127428561G>C | CA348405351 | PROC | c.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) | |
2 | g.127428561G>T | CA348405352 | PROC | c.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) | |
2 | g.127428562C>A | CA428871861 | PROC | c.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 |
2 | g.127428562C>G | CA428871863 | PROC | c.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 |
2 | g.127428562C>T | CA428871866 | PROC | c.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=) | |
2 | g.127428563C>A | CA348405359 | PROC | c.1003C>A (p.Gln335Lys) c.327C>A c.1105C>A (p.Gln369Lys) c.1186C>A (p.Gln396Lys) c.1168C>A (p.Gln390Lys) c.1066C>A (p.Gln356Lys) n.1332-299G>T c.1246C>A (p.Gln416Lys) c.1348C>A (p.Gln450Lys) c.1288C>A (p.Gln430Lys) n.3607-299G>T n.4043-299G>T c.1171C>A (p.Gln391Lys) c.1189C>A (p.Gln397Lys) c.946C>A (p.Gln316Lys) c.979C>A (p.Gln327Lys) c.997C>A (p.Gln333Lys) | |
2 | g.127428563C>G | CA348405361 | PROC | c.1003C>G (p.Gln335Glu) c.327C>G c.1105C>G (p.Gln369Glu) c.1186C>G (p.Gln396Glu) c.1168C>G (p.Gln390Glu) c.1066C>G (p.Gln356Glu) n.1332-299G>C c.1246C>G (p.Gln416Glu) c.1348C>G (p.Gln450Glu) c.1288C>G (p.Gln430Glu) n.3607-299G>C n.4043-299G>C c.1171C>G (p.Gln391Glu) c.1189C>G (p.Gln397Glu) c.946C>G (p.Gln316Glu) c.979C>G (p.Gln327Glu) c.997C>G (p.Gln333Glu) | |
2 | g.127428563C>T | CA348405356 | PROC | c.1003C>T (p.Gln335Ter) c.327C>T c.1105C>T (p.Gln369Ter) c.1186C>T (p.Gln396Ter) c.1168C>T (p.Gln390Ter) c.1066C>T (p.Gln356Ter) n.1332-299G>A c.1246C>T (p.Gln416Ter) c.1348C>T (p.Gln450Ter) c.1288C>T (p.Gln430Ter) n.3607-299G>A n.4043-299G>A c.1171C>T (p.Gln391Ter) c.1189C>T (p.Gln397Ter) c.946C>T (p.Gln316Ter) c.979C>T (p.Gln327Ter) c.997C>T (p.Gln333Ter) | |
2 | g.127428564A>C | CA348405365 | PROC | c.1004A>C (p.Gln335Pro) c.328A>C c.1106A>C (p.Gln369Pro) c.1187A>C (p.Gln396Pro) c.1169A>C (p.Gln390Pro) c.1067A>C (p.Gln356Pro) n.1332-300T>G c.1247A>C (p.Gln416Pro) c.1349A>C (p.Gln450Pro) c.1289A>C (p.Gln430Pro) n.3607-300T>G n.4043-300T>G c.1172A>C (p.Gln391Pro) c.1190A>C (p.Gln397Pro) c.947A>C (p.Gln316Pro) c.980A>C (p.Gln327Pro) c.998A>C (p.Gln333Pro) | |
2 | g.127428564A>G | CA348405368 | PROC | c.1004A>G (p.Gln335Arg) c.328A>G c.1106A>G (p.Gln369Arg) c.1187A>G (p.Gln396Arg) c.1169A>G (p.Gln390Arg) c.1067A>G (p.Gln356Arg) n.1332-300T>C c.1247A>G (p.Gln416Arg) c.1349A>G (p.Gln450Arg) c.1289A>G (p.Gln430Arg) n.3607-300T>C n.4043-300T>C c.1172A>G (p.Gln391Arg) c.1190A>G (p.Gln397Arg) c.947A>G (p.Gln316Arg) c.980A>G (p.Gln327Arg) c.998A>G (p.Gln333Arg) | |
2 | g.127428564A>T | CA348405369 | PROC | c.1004A>T (p.Gln335Leu) c.328A>T c.1106A>T (p.Gln369Leu) c.1187A>T (p.Gln396Leu) c.1169A>T (p.Gln390Leu) c.1067A>T (p.Gln356Leu) n.1332-300T>A c.1247A>T (p.Gln416Leu) c.1349A>T (p.Gln450Leu) c.1289A>T (p.Gln430Leu) n.3607-300T>A n.4043-300T>A c.1172A>T (p.Gln391Leu) c.1190A>T (p.Gln397Leu) c.947A>T (p.Gln316Leu) c.980A>T (p.Gln327Leu) c.998A>T (p.Gln333Leu) | |
2 | g.127428565G>A | CA428871877 | PROC | c.1005G>A (p.Gln335=) c.329G>A c.1107G>A (p.Gln369=) c.1188G>A (p.Gln396=) c.1170G>A (p.Gln390=) c.1068G>A (p.Gln356=) n.1332-301C>T c.1248G>A (p.Gln416=) c.1350G>A (p.Gln450=) c.1290G>A (p.Gln430=) n.3607-301C>T n.4043-301C>T c.1173G>A (p.Gln391=) c.1191G>A (p.Gln397=) c.948G>A (p.Gln316=) c.981G>A (p.Gln327=) c.999G>A (p.Gln333=) | ClinVar gnomAD v4 |
2 | g.127428565G>C | CA348405376 | PROC | c.1005G>C (p.Gln335His) c.329G>C c.1107G>C (p.Gln369His) c.1188G>C (p.Gln396His) c.1170G>C (p.Gln390His) c.1068G>C (p.Gln356His) n.1332-301C>G c.1248G>C (p.Gln416His) c.1350G>C (p.Gln450His) c.1290G>C (p.Gln430His) n.3607-301C>G n.4043-301C>G c.1173G>C (p.Gln391His) c.1191G>C (p.Gln397His) c.948G>C (p.Gln316His) c.981G>C (p.Gln327His) c.999G>C (p.Gln333His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428565G= | CA1286884528 | PROC | c.1005G= (p.Gln335=) c.329G= c.1107G= (p.Gln369=) c.1188G= (p.Gln396=) c.1170G= (p.Gln390=) c.1068G= (p.Gln356=) n.1332-301C= c.1248G= (p.Gln416=) c.1350G= (p.Gln450=) c.1290G= (p.Gln430=) n.3607-301C= n.4043-301C= c.1173G= (p.Gln391=) c.1191G= (p.Gln397=) c.948G= (p.Gln316=) c.981G= (p.Gln327=) c.999G= (p.Gln333=) | |
2 | g.127428565G>T | CA348405378 | PROC | c.1005G>T (p.Gln335His) c.329G>T c.1107G>T (p.Gln369His) c.1188G>T (p.Gln396His) c.1170G>T (p.Gln390His) c.1068G>T (p.Gln356His) n.1332-301C>A c.1248G>T (p.Gln416His) c.1350G>T (p.Gln450His) c.1290G>T (p.Gln430His) n.3607-301C>A n.4043-301C>A c.1173G>T (p.Gln391His) c.1191G>T (p.Gln397His) c.948G>T (p.Gln316His) c.981G>T (p.Gln327His) c.999G>T (p.Gln333His) | |
2 | g.127428566G>A | CA348405382 | PROC | c.1006G>A (p.Glu336Lys) c.330G>A c.1108G>A (p.Glu370Lys) c.1189G>A (p.Glu397Lys) c.1171G>A (p.Glu391Lys) c.1069G>A (p.Glu357Lys) n.1332-302C>T c.1249G>A (p.Glu417Lys) c.1351G>A (p.Glu451Lys) c.1291G>A (p.Glu431Lys) n.3607-302C>T n.4043-302C>T c.1174G>A (p.Glu392Lys) c.1192G>A (p.Glu398Lys) c.949G>A (p.Glu317Lys) c.982G>A (p.Glu328Lys) c.1000G>A (p.Glu334Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428566G>C | CA348405384 | PROC | c.1006G>C (p.Glu336Gln) c.330G>C c.1108G>C (p.Glu370Gln) c.1189G>C (p.Glu397Gln) c.1171G>C (p.Glu391Gln) c.1069G>C (p.Glu357Gln) n.1332-302C>G c.1249G>C (p.Glu417Gln) c.1351G>C (p.Glu451Gln) c.1291G>C (p.Glu431Gln) n.3607-302C>G n.4043-302C>G c.1174G>C (p.Glu392Gln) c.1192G>C (p.Glu398Gln) c.949G>C (p.Glu317Gln) c.982G>C (p.Glu328Gln) c.1000G>C (p.Glu334Gln) | |
2 | g.127428566G= | CA1286884529 | PROC | c.1006G= (p.Glu336=) c.330G= c.1108G= (p.Glu370=) c.1189G= (p.Glu397=) c.1171G= (p.Glu391=) c.1069G= (p.Glu357=) n.1332-302C= c.1249G= (p.Glu417=) c.1351G= (p.Glu451=) c.1291G= (p.Glu431=) n.3607-302C= n.4043-302C= c.1174G= (p.Glu392=) c.1192G= (p.Glu398=) c.949G= (p.Glu317=) c.982G= (p.Glu328=) c.1000G= (p.Glu334=) | |
2 | g.127428566G>T | CA348405386 | PROC | c.1006G>T (p.Glu336Ter) c.330G>T c.1108G>T (p.Glu370Ter) c.1189G>T (p.Glu397Ter) c.1171G>T (p.Glu391Ter) c.1069G>T (p.Glu357Ter) n.1332-302C>A c.1249G>T (p.Glu417Ter) c.1351G>T (p.Glu451Ter) c.1291G>T (p.Glu431Ter) n.3607-302C>A n.4043-302C>A c.1174G>T (p.Glu392Ter) c.1192G>T (p.Glu398Ter) c.949G>T (p.Glu317Ter) c.982G>T (p.Glu328Ter) c.1000G>T (p.Glu334Ter) | |
2 | g.127428567A>C | CA348405391 | PROC | c.1007A>C (p.Glu336Ala) c.331A>C c.1109A>C (p.Glu370Ala) c.1190A>C (p.Glu397Ala) c.1172A>C (p.Glu391Ala) c.1070A>C (p.Glu357Ala) n.1332-303T>G c.1250A>C (p.Glu417Ala) c.1352A>C (p.Glu451Ala) c.1292A>C (p.Glu431Ala) n.3607-303T>G n.4043-303T>G c.1175A>C (p.Glu392Ala) c.1193A>C (p.Glu398Ala) c.950A>C (p.Glu317Ala) c.983A>C (p.Glu328Ala) c.1001A>C (p.Glu334Ala) | |
2 | g.127428567A>G | CA348405393 | PROC | c.1007A>G (p.Glu336Gly) c.331A>G c.1109A>G (p.Glu370Gly) c.1190A>G (p.Glu397Gly) c.1172A>G (p.Glu391Gly) c.1070A>G (p.Glu357Gly) n.1332-303T>C c.1250A>G (p.Glu417Gly) c.1352A>G (p.Glu451Gly) c.1292A>G (p.Glu431Gly) n.3607-303T>C n.4043-303T>C c.1175A>G (p.Glu392Gly) c.1193A>G (p.Glu398Gly) c.950A>G (p.Glu317Gly) c.983A>G (p.Glu328Gly) c.1001A>G (p.Glu334Gly) | |
2 | g.127428567A>T | CA348405397 | PROC | c.1007A>T (p.Glu336Val) c.331A>T c.1109A>T (p.Glu370Val) c.1190A>T (p.Glu397Val) c.1172A>T (p.Glu391Val) c.1070A>T (p.Glu357Val) n.1332-303T>A c.1250A>T (p.Glu417Val) c.1352A>T (p.Glu451Val) c.1292A>T (p.Glu431Val) n.3607-303T>A n.4043-303T>A c.1175A>T (p.Glu392Val) c.1193A>T (p.Glu398Val) c.950A>T (p.Glu317Val) c.983A>T (p.Glu328Val) c.1001A>T (p.Glu334Val) | |
2 | g.127428568G>A | CA428871894 | PROC | c.1008G>A (p.Glu336=) c.332G>A c.1110G>A (p.Glu370=) c.1191G>A (p.Glu397=) c.1173G>A (p.Glu391=) c.1071G>A (p.Glu357=) n.1332-304C>T c.1251G>A (p.Glu417=) c.1353G>A (p.Glu451=) c.1293G>A (p.Glu431=) n.3607-304C>T n.4043-304C>T c.1176G>A (p.Glu392=) c.1194G>A (p.Glu398=) c.951G>A (p.Glu317=) c.984G>A (p.Glu328=) c.1002G>A (p.Glu334=) | |
2 | g.127428568G>C | CA348405398 | PROC | c.1008G>C (p.Glu336Asp) c.332G>C c.1110G>C (p.Glu370Asp) c.1191G>C (p.Glu397Asp) c.1173G>C (p.Glu391Asp) c.1071G>C (p.Glu357Asp) n.1332-304C>G c.1251G>C (p.Glu417Asp) c.1353G>C (p.Glu451Asp) c.1293G>C (p.Glu431Asp) n.3607-304C>G n.4043-304C>G c.1176G>C (p.Glu392Asp) c.1194G>C (p.Glu398Asp) c.951G>C (p.Glu317Asp) c.984G>C (p.Glu328Asp) c.1002G>C (p.Glu334Asp) | |
2 | g.127428568G>T | CA348405401 | PROC | c.1008G>T (p.Glu336Asp) c.332G>T c.1110G>T (p.Glu370Asp) c.1191G>T (p.Glu397Asp) c.1173G>T (p.Glu391Asp) c.1071G>T (p.Glu357Asp) n.1332-304C>A c.1251G>T (p.Glu417Asp) c.1353G>T (p.Glu451Asp) c.1293G>T (p.Glu431Asp) n.3607-304C>A n.4043-304C>A c.1176G>T (p.Glu392Asp) c.1194G>T (p.Glu398Asp) c.951G>T (p.Glu317Asp) c.984G>T (p.Glu328Asp) c.1002G>T (p.Glu334Asp) |