| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23355423_23355432del | CA2573149137 | SACS | c.1185_1194del (p.Cys395TrpfsTer13) n.1323_1332del c.1176_1185del (p.Cys392TrpfsTer13) n.3542_3551del c.-1066_-1057del (n.-1066_-1057del) c.57_66del (p.Cys19TrpfsTer13) c.883_892del c.744_753del (p.Cys248TrpfsTer13) c.1209_1218del (p.Cys403TrpfsTer13) | ClinVar dbSNP |
| 13 | g.23355421_23355423delinsACT | CA2078658655 | SACS | c.1189_1191delinsAGT (p.Ser397=) n.1327_1329delinsAGT c.1180_1182delinsAGT (p.Ser394=) n.3546_3548delinsAGT c.-1062_-1060delinsAGT (n.-1062_-1060delinsAGT) c.61_63delinsAGT (p.Ser21=) c.887_889delinsAGT c.748_750delinsAGT (p.Ser250=) c.1213_1215delinsAGT (p.Ser405=) | |
| 13 | g.23355422C>A | CA387549864 | SACS | c.1190G>T (p.Ser397Ile) n.1328G>T c.1181G>T (p.Ser394Ile) n.3547G>T c.-1061G>T (n.-1061G>T) c.62G>T (p.Ser21Ile) c.888G>T c.749G>T (p.Ser250Ile) c.1214G>T (p.Ser405Ile) | |
| 13 | g.23355422C= | CA2078658661 | SACS | c.1190G= (p.Ser397=) n.1328G= c.1181G= (p.Ser394=) n.3547G= c.-1061G= (n.-1061G=) c.62G= (p.Ser21=) c.888G= c.749G= (p.Ser250=) c.1214G= (p.Ser405=) | |
| 13 | g.23355422C>G | CA387549865 | SACS | c.1190G>C (p.Ser397Thr) n.1328G>C c.1181G>C (p.Ser394Thr) n.3547G>C c.-1061G>C (n.-1061G>C) c.62G>C (p.Ser21Thr) c.888G>C c.749G>C (p.Ser250Thr) c.1214G>C (p.Ser405Thr) | dbSNP |
| 13 | g.23355422C>T | CA387549866 | SACS | c.1190G>A (p.Ser397Asn) n.1328G>A c.1181G>A (p.Ser394Asn) n.3547G>A c.-1061G>A (n.-1061G>A) c.62G>A (p.Ser21Asn) c.888G>A c.749G>A (p.Ser250Asn) c.1214G>A (p.Ser405Asn) | gnomAD v4 |
| 13 | g.23355422dup | CA2622331281 | SACS | c.1190dup (p.Ser397ArgfsTer9) n.1328dup c.1181dup (p.Ser394ArgfsTer9) n.3547dup c.-1061dup (n.-1061dup) c.62dup (p.Ser21ArgfsTer9) c.888dup c.749dup (p.Ser250ArgfsTer9) c.1214dup (p.Ser405ArgfsTer9) | gnomAD v4 |
| 13 | g.23355422_23355423del | CA16041654 | SACS | c.1189_1190del (p.Ser397CysfsTer8) n.1327_1328del c.1180_1181del (p.Ser394CysfsTer8) n.3546_3547del c.-1062_-1061del (n.-1062_-1061del) c.61_62del (p.Ser21CysfsTer8) c.887_888del c.748_749del (p.Ser250CysfsTer8) c.1213_1214del (p.Ser405CysfsTer8) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23355422_23355424del | CA2552957803 | SACS | c.1188_1190del (p.Ser397del) n.1326_1328del c.1179_1181del (p.Ser394del) n.3545_3547del c.-1063_-1061del (n.-1063_-1061del) c.60_62del (p.Ser21del) c.886_888del c.747_749del (p.Ser250del) c.1212_1214del (p.Ser405del) | |
| 13 | g.23355423T>A | CA387549870 | SACS | c.1189A>T (p.Ser397Cys) n.1327A>T c.1180A>T (p.Ser394Cys) n.3546A>T c.-1062A>T (n.-1062A>T) c.61A>T (p.Ser21Cys) c.887A>T c.748A>T (p.Ser250Cys) c.1213A>T (p.Ser405Cys) | |
| 13 | g.23355423T>C | CA6911957 | SACS | c.1189A>G (p.Ser397Gly) n.1327A>G c.1180A>G (p.Ser394Gly) n.3546A>G c.-1062A>G (n.-1062A>G) c.61A>G (p.Ser21Gly) c.887A>G c.748A>G (p.Ser250Gly) c.1213A>G (p.Ser405Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355423T>G | CA387549872 | SACS | c.1189A>C (p.Ser397Arg) n.1327A>C c.1180A>C (p.Ser394Arg) n.3546A>C c.-1062A>C (n.-1062A>C) c.61A>C (p.Ser21Arg) c.887A>C c.748A>C (p.Ser250Arg) c.1213A>C (p.Ser405Arg) | gnomAD v4 |
| 13 | g.23355423T= | CA2078658666 | SACS | c.1189A= (p.Ser397=) n.1327A= c.1180A= (p.Ser394=) n.3546A= c.-1062A= (n.-1062A=) c.61A= (p.Ser21=) c.887A= c.748A= (p.Ser250=) c.1213A= (p.Ser405=) | |
| 13 | g.23355423dup | CA2622331282 | SACS | c.1189dup (p.Ser397LysfsTer9) n.1327dup c.1180dup (p.Ser394LysfsTer9) n.3546dup c.-1062dup (n.-1062dup) c.61dup (p.Ser21LysfsTer9) c.887dup c.748dup (p.Ser250LysfsTer9) c.1213dup (p.Ser405LysfsTer9) | ClinVar gnomAD v4 |
| 13 | g.23355423_23355424delinsTG | CA2078658665 | SACS | c.1188_1189delinsCA (p.Asn396=) n.1326_1327delinsCA c.1179_1180delinsCA (p.Asn393=) n.3545_3546delinsCA c.-1063_-1062delinsCA (n.-1063_-1062delinsCA) c.60_61delinsCA (p.Asn20=) c.886_887delinsCA c.747_748delinsCA (p.Asn249=) c.1212_1213delinsCA (p.Asn404=) | |
| 13 | g.23355424del | CA6911958 | SACS | c.1188del (p.Asn396LysfsTer15) n.1326del c.1179del (p.Asn393LysfsTer15) n.3545del c.-1063del (n.-1063del) c.60del (p.Asn20LysfsTer15) c.886del c.747del (p.Asn249LysfsTer15) c.1212del (p.Asn404LysfsTer15) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23355424G>A | CA483164583 | SACS | c.1188C>T (p.Asn396=) n.1326C>T c.1179C>T (p.Asn393=) n.3545C>T c.-1063C>T (n.-1063C>T) c.60C>T (p.Asn20=) c.886C>T c.747C>T (p.Asn249=) c.1212C>T (p.Asn404=) | gnomAD v4 |
| 13 | g.23355424G>C | CA387549875 | SACS | c.1188C>G (p.Asn396Lys) n.1326C>G c.1179C>G (p.Asn393Lys) n.3545C>G c.-1063C>G (n.-1063C>G) c.60C>G (p.Asn20Lys) c.886C>G c.747C>G (p.Asn249Lys) c.1212C>G (p.Asn404Lys) | |
| 13 | g.23355424G>T | CA387549876 | SACS | c.1188C>A (p.Asn396Lys) n.1326C>A c.1179C>A (p.Asn393Lys) n.3545C>A c.-1063C>A (n.-1063C>A) c.60C>A (p.Asn20Lys) c.886C>A c.747C>A (p.Asn249Lys) c.1212C>A (p.Asn404Lys) | |
| 13 | g.23355425T>A | CA387549886 | SACS | c.1187A>T (p.Asn396Ile) n.1325A>T c.1178A>T (p.Asn393Ile) n.3544A>T c.-1064A>T (n.-1064A>T) c.59A>T (p.Asn20Ile) c.885A>T c.746A>T (p.Asn249Ile) c.1211A>T (p.Asn404Ile) | |
| 13 | g.23355425T>C | CA387549888 | SACS | c.1187A>G (p.Asn396Ser) n.1325A>G c.1178A>G (p.Asn393Ser) n.3544A>G c.-1064A>G (n.-1064A>G) c.59A>G (p.Asn20Ser) c.885A>G c.746A>G (p.Asn249Ser) c.1211A>G (p.Asn404Ser) | |
| 13 | g.23355425T>G | CA387549890 | SACS | c.1187A>C (p.Asn396Thr) n.1325A>C c.1178A>C (p.Asn393Thr) n.3544A>C c.-1064A>C (n.-1064A>C) c.59A>C (p.Asn20Thr) c.885A>C c.746A>C (p.Asn249Thr) c.1211A>C (p.Asn404Thr) | |
| 13 | g.23355425_23355426insC | CA2528148334 | SACS | c.1186_1187insG (p.Asn396ArgfsTer10) n.1324_1325insG c.1177_1178insG (p.Asn393ArgfsTer10) n.3543_3544insG c.-1065_-1064insG (n.-1065_-1064insG) c.58_59insG (p.Asn20ArgfsTer10) c.884_885insG c.745_746insG (p.Asn249ArgfsTer10) c.1210_1211insG (p.Asn404ArgfsTer10) | |
| 13 | g.23355426T>A | CA387549895 | SACS | c.1186A>T (p.Asn396Tyr) n.1324A>T c.1177A>T (p.Asn393Tyr) n.3543A>T c.-1065A>T (n.-1065A>T) c.58A>T (p.Asn20Tyr) c.884A>T c.745A>T (p.Asn249Tyr) c.1210A>T (p.Asn404Tyr) | |
| 13 | g.23355426T>C | CA246678004 | SACS | c.1186A>G (p.Asn396Asp) n.1324A>G c.1177A>G (p.Asn393Asp) n.3543A>G c.-1065A>G (n.-1065A>G) c.58A>G (p.Asn20Asp) c.884A>G c.745A>G (p.Asn249Asp) c.1210A>G (p.Asn404Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23355426T>G | CA387549893 | SACS | c.1186A>C (p.Asn396His) n.1324A>C c.1177A>C (p.Asn393His) n.3543A>C c.-1065A>C (n.-1065A>C) c.58A>C (p.Asn20His) c.884A>C c.745A>C (p.Asn249His) c.1210A>C (p.Asn404His) | |
| 13 | g.23355426T= | CA2078658672 | SACS | c.1186A= (p.Asn396=) n.1324A= c.1177A= (p.Asn393=) n.3543A= c.-1065A= (n.-1065A=) c.58A= (p.Asn20=) c.884A= c.745A= (p.Asn249=) c.1210A= (p.Asn404=) | |
| 13 | g.23355427A>C | CA387549898 | SACS | c.1185T>G (p.Cys395Trp) n.1323T>G c.1176T>G (p.Cys392Trp) n.3542T>G c.-1066T>G (n.-1066T>G) c.57T>G (p.Cys19Trp) c.883T>G c.744T>G (p.Cys248Trp) c.1209T>G (p.Cys403Trp) | |
| 13 | g.23355427A>G | CA483164586 | SACS | c.1185T>C (p.Cys395=) n.1323T>C c.1176T>C (p.Cys392=) n.3542T>C c.-1066T>C (n.-1066T>C) c.57T>C (p.Cys19=) c.883T>C c.744T>C (p.Cys248=) c.1209T>C (p.Cys403=) | gnomAD v4 COSMIC COSMIC |
| 13 | g.23355427A>T | CA387549899 | SACS | c.1185T>A (p.Cys395Ter) n.1323T>A c.1176T>A (p.Cys392Ter) n.3542T>A c.-1066T>A (n.-1066T>A) c.57T>A (p.Cys19Ter) c.883T>A c.744T>A (p.Cys248Ter) c.1209T>A (p.Cys403Ter) | |
| 13 | g.23355428C>A | CA387549902 | SACS | c.1184G>T (p.Cys395Phe) n.1322G>T c.1175G>T (p.Cys392Phe) n.3541G>T c.-1067G>T (n.-1067G>T) c.56G>T (p.Cys19Phe) c.882G>T c.743G>T (p.Cys248Phe) c.1208G>T (p.Cys403Phe) | gnomAD v4 |
| 13 | g.23355428C>G | CA387549903 | SACS | c.1184G>C (p.Cys395Ser) n.1322G>C c.1175G>C (p.Cys392Ser) n.3541G>C c.-1067G>C (n.-1067G>C) c.56G>C (p.Cys19Ser) c.882G>C c.743G>C (p.Cys248Ser) c.1208G>C (p.Cys403Ser) | |
| 13 | g.23355428C>T | CA387549905 | SACS | c.1184G>A (p.Cys395Tyr) n.1322G>A c.1175G>A (p.Cys392Tyr) n.3541G>A c.-1067G>A (n.-1067G>A) c.56G>A (p.Cys19Tyr) c.882G>A c.743G>A (p.Cys248Tyr) c.1208G>A (p.Cys403Tyr) | |
| 13 | g.23355429A>C | CA387549907 | SACS | c.1183T>G (p.Cys395Gly) n.1321T>G c.1174T>G (p.Cys392Gly) n.3540T>G c.-1068T>G (n.-1068T>G) c.55T>G (p.Cys19Gly) c.881T>G c.742T>G (p.Cys248Gly) c.1207T>G (p.Cys403Gly) | |
| 13 | g.23355429A>G | CA387549908 | SACS | c.1183T>C (p.Cys395Arg) n.1321T>C c.1174T>C (p.Cys392Arg) n.3540T>C c.-1068T>C (n.-1068T>C) c.55T>C (p.Cys19Arg) c.881T>C c.742T>C (p.Cys248Arg) c.1207T>C (p.Cys403Arg) | |
| 13 | g.23355429A>T | CA387549910 | SACS | c.1183T>A (p.Cys395Ser) n.1321T>A c.1174T>A (p.Cys392Ser) n.3540T>A c.-1068T>A (n.-1068T>A) c.55T>A (p.Cys19Ser) c.881T>A c.742T>A (p.Cys248Ser) c.1207T>A (p.Cys403Ser) | |
| 13 | g.23355430C>A | CA483164588 | SACS | c.1182G>T (p.Val394=) n.1320G>T c.1173G>T (p.Val391=) n.3539G>T c.-1069G>T (n.-1069G>T) c.54G>T (p.Val18=) c.880G>T c.741G>T (p.Val247=) c.1206G>T (p.Val402=) | |
| 13 | g.23355430C= | CA2078658676 | SACS | c.1182G= (p.Val394=) n.1320G= c.1173G= (p.Val391=) n.3539G= c.-1069G= (n.-1069G=) c.54G= (p.Val18=) c.880G= c.741G= (p.Val247=) c.1206G= (p.Val402=) | |
| 13 | g.23355430C>G | CA483164590 | SACS | c.1182G>C (p.Val394=) n.1320G>C c.1173G>C (p.Val391=) n.3539G>C c.-1069G>C (n.-1069G>C) c.54G>C (p.Val18=) c.880G>C c.741G>C (p.Val247=) c.1206G>C (p.Val402=) | |
| 13 | g.23355430C>T | CA6911959 | SACS | c.1182G>A (p.Val394=) n.1320G>A c.1173G>A (p.Val391=) n.3539G>A c.-1069G>A (n.-1069G>A) c.54G>A (p.Val18=) c.880G>A c.741G>A (p.Val247=) c.1206G>A (p.Val402=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355430_23355434delinsCACCA | CA2078658677 | SACS | c.1178_1182delinsTGGTG (p.Leu393=) n.1316_1320delinsTGGTG c.1169_1173delinsTGGTG (p.Leu390=) n.3535_3539delinsTGGTG c.-1073_-1069delinsTGGTG (n.-1073_-1069delinsTGGTG) c.50_54delinsTGGTG (p.Leu17=) c.876_880delinsTGGTG c.737_741delinsTGGTG (p.Leu246=) c.1202_1206delinsTGGTG (p.Leu401=) | |
| 13 | g.23355431A>C | CA387549914 | SACS | c.1181T>G (p.Val394Gly) n.1319T>G c.1172T>G (p.Val391Gly) n.3538T>G c.-1070T>G (n.-1070T>G) c.53T>G (p.Val18Gly) c.879T>G c.740T>G (p.Val247Gly) c.1205T>G (p.Val402Gly) | |
| 13 | g.23355431A>G | CA387549915 | SACS | c.1181T>C (p.Val394Ala) n.1319T>C c.1172T>C (p.Val391Ala) n.3538T>C c.-1070T>C (n.-1070T>C) c.53T>C (p.Val18Ala) c.879T>C c.740T>C (p.Val247Ala) c.1205T>C (p.Val402Ala) | gnomAD v4 |
| 13 | g.23355431A>T | CA387549916 | SACS | c.1181T>A (p.Val394Glu) n.1319T>A c.1172T>A (p.Val391Glu) n.3538T>A c.-1070T>A (n.-1070T>A) c.53T>A (p.Val18Glu) c.879T>A c.740T>A (p.Val247Glu) c.1205T>A (p.Val402Glu) | |
| 13 | g.23355431_23355432delinsAC | CA2078658680 | SACS | c.1180_1181delinsGT (p.Val394=) n.1318_1319delinsGT c.1171_1172delinsGT (p.Val391=) n.3537_3538delinsGT c.-1071_-1070delinsGT (n.-1071_-1070delinsGT) c.52_53delinsGT (p.Val18=) c.878_879delinsGT c.739_740delinsGT (p.Val247=) c.1204_1205delinsGT (p.Val402=) | |
| 13 | g.23355436_23355439del | CA919226957 | SACS | c.1178_1181del (p.Leu393CysfsTer17) n.1316_1319del c.1169_1172del (p.Leu390CysfsTer17) n.3535_3538del c.-1073_-1070del (n.-1073_-1070del) c.50_53del (p.Leu17CysfsTer17) c.876_879del c.737_740del (p.Leu246CysfsTer17) c.1202_1205del (p.Leu401CysfsTer17) | dbSNP gnomAD v4 |
| 13 | g.23355432C>A | CA387549919 | SACS | c.1180G>T (p.Val394Leu) n.1318G>T c.1171G>T (p.Val391Leu) n.3537G>T c.-1071G>T (n.-1071G>T) c.52G>T (p.Val18Leu) c.878G>T c.739G>T (p.Val247Leu) c.1204G>T (p.Val402Leu) | |
| 13 | g.23355432C>G | CA387549923 | SACS | c.1180G>C (p.Val394Leu) n.1318G>C c.1171G>C (p.Val391Leu) n.3537G>C c.-1071G>C (n.-1071G>C) c.52G>C (p.Val18Leu) c.878G>C c.739G>C (p.Val247Leu) c.1204G>C (p.Val402Leu) | |
| 13 | g.23355432C>T | CA387549921 | SACS | c.1180G>A (p.Val394Met) n.1318G>A c.1171G>A (p.Val391Met) n.3537G>A c.-1071G>A (n.-1071G>A) c.52G>A (p.Val18Met) c.878G>A c.739G>A (p.Val247Met) c.1204G>A (p.Val402Met) | |
| 13 | g.23355433del | CA2078658682 | SACS | c.1180del (p.Val394CysfsTer17) n.1318del c.1171del (p.Val391CysfsTer17) n.3537del c.-1071del (n.-1071del) c.52del (p.Val18CysfsTer17) c.878del c.739del (p.Val247CysfsTer17) c.1204del (p.Val402CysfsTer17) | dbSNP |