| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23355382_23355384delinsTAA | CA2078658600 | SACS | c.1228_1230delinsTTA (p.Leu410=) n.1366_1368delinsTTA c.1219_1221delinsTTA (p.Leu407=) n.3585_3587delinsTTA c.-1023_-1021delinsTTA (n.-1023_-1021delinsTTA) c.100_102delinsTTA (p.Leu34=) c.926_928delinsTTA c.787_789delinsTTA (p.Leu263=) c.1252_1254delinsTTA (p.Leu418=) | |
| 13 | g.23355383A= | CA2078658605 | SACS | c.1229T= (p.Leu410=) n.1367T= c.1220T= (p.Leu407=) n.3586T= c.-1022T= (n.-1022T=) c.101T= (p.Leu34=) c.927T= c.788T= (p.Leu263=) c.1253T= (p.Leu418=) | |
| 13 | g.23355383A>C | CA387549687 | SACS | c.1229T>G (p.Leu410Ter) n.1367T>G c.1220T>G (p.Leu407Ter) n.3586T>G c.-1022T>G (n.-1022T>G) c.101T>G (p.Leu34Ter) c.927T>G c.788T>G (p.Leu263Ter) c.1253T>G (p.Leu418Ter) | |
| 13 | g.23355383A>G | CA6911948 | SACS | c.1229T>C (p.Leu410Ser) n.1367T>C c.1220T>C (p.Leu407Ser) n.3586T>C c.-1022T>C (n.-1022T>C) c.101T>C (p.Leu34Ser) c.927T>C c.788T>C (p.Leu263Ser) c.1253T>C (p.Leu418Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355383A>T | CA387549689 | SACS | c.1229T>A (p.Leu410Ter) n.1367T>A c.1220T>A (p.Leu407Ter) n.3586T>A c.-1022T>A (n.-1022T>A) c.101T>A (p.Leu34Ter) c.927T>A c.788T>A (p.Leu263Ter) c.1253T>A (p.Leu418Ter) | |
| 13 | g.23355385del | CA2695217760 | SACS | c.1229del (p.Leu410Ter) n.1367del c.1220del (p.Leu407Ter) n.3586del c.-1022del (n.-1022del) c.101del (p.Leu34Ter) c.927del c.788del (p.Leu263Ter) c.1253del (p.Leu418Ter) | |
| 13 | g.23355384_23355385del | CA16041653 | SACS | c.1228_1229del (p.Leu410SerfsTer2) n.1366_1367del c.1219_1220del (p.Leu407SerfsTer2) n.3585_3586del c.-1023_-1022del (n.-1023_-1022del) c.100_101del (p.Leu34SerfsTer2) c.926_927del c.787_788del (p.Leu263SerfsTer2) c.1252_1253del (p.Leu418SerfsTer2) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23355384A>C | CA387549691 | SACS | c.1228T>G (p.Leu410Val) n.1366T>G c.1219T>G (p.Leu407Val) n.3585T>G c.-1023T>G (n.-1023T>G) c.100T>G (p.Leu34Val) c.926T>G c.787T>G (p.Leu263Val) c.1252T>G (p.Leu418Val) | |
| 13 | g.23355384A>G | CA483164534 | SACS | c.1228T>C (p.Leu410=) n.1366T>C c.1219T>C (p.Leu407=) n.3585T>C c.-1023T>C (n.-1023T>C) c.100T>C (p.Leu34=) c.926T>C c.787T>C (p.Leu263=) c.1252T>C (p.Leu418=) | gnomAD v4 |
| 13 | g.23355384A>T | CA387549693 | SACS | c.1228T>A (p.Leu410Ile) n.1366T>A c.1219T>A (p.Leu407Ile) n.3585T>A c.-1023T>A (n.-1023T>A) c.100T>A (p.Leu34Ile) c.926T>A c.787T>A (p.Leu263Ile) c.1252T>A (p.Leu418Ile) | |
| 13 | g.23355385A>C | CA483164538 | SACS | c.1227T>G (p.Ser409=) n.1365T>G c.1218T>G (p.Ser406=) n.3584T>G c.-1024T>G (n.-1024T>G) c.99T>G (p.Ser33=) c.925T>G c.786T>G (p.Ser262=) c.1251T>G (p.Ser417=) | |
| 13 | g.23355385A>G | CA483164539 | SACS | c.1227T>C (p.Ser409=) n.1365T>C c.1218T>C (p.Ser406=) n.3584T>C c.-1024T>C (n.-1024T>C) c.99T>C (p.Ser33=) c.925T>C c.786T>C (p.Ser262=) c.1251T>C (p.Ser417=) | ClinVar dbSNP |
| 13 | g.23355385A>T | CA483164540 | SACS | c.1227T>A (p.Ser409=) n.1365T>A c.1218T>A (p.Ser406=) n.3584T>A c.-1024T>A (n.-1024T>A) c.99T>A (p.Ser33=) c.925T>A c.786T>A (p.Ser262=) c.1251T>A (p.Ser417=) | |
| 13 | g.23355387_23355388del | CA2697551657 | SACS | c.1226_1227del (p.Ser409PhefsTer3) n.1364_1365del c.1217_1218del (p.Ser406PhefsTer3) n.3583_3584del c.-1025_-1024del (n.-1025_-1024del) c.98_99del (p.Ser33PhefsTer3) c.924_925del c.785_786del (p.Ser262PhefsTer3) c.1250_1251del (p.Ser417PhefsTer3) | |
| 13 | g.23355386G>A | CA387549694 | SACS | c.1226C>T (p.Ser409Phe) n.1364C>T c.1217C>T (p.Ser406Phe) n.3583C>T c.-1025C>T (n.-1025C>T) c.98C>T (p.Ser33Phe) c.924C>T c.785C>T (p.Ser262Phe) c.1250C>T (p.Ser417Phe) | COSMIC COSMIC |
| 13 | g.23355386G>C | CA387549696 | SACS | c.1226C>G (p.Ser409Cys) n.1364C>G c.1217C>G (p.Ser406Cys) n.3583C>G c.-1025C>G (n.-1025C>G) c.98C>G (p.Ser33Cys) c.924C>G c.785C>G (p.Ser262Cys) c.1250C>G (p.Ser417Cys) | |
| 13 | g.23355386G>T | CA387549698 | SACS | c.1226C>A (p.Ser409Tyr) n.1364C>A c.1217C>A (p.Ser406Tyr) n.3583C>A c.-1025C>A (n.-1025C>A) c.98C>A (p.Ser33Tyr) c.924C>A c.785C>A (p.Ser262Tyr) c.1250C>A (p.Ser417Tyr) | |
| 13 | g.23355387A>C | CA387549705 | SACS | c.1225T>G (p.Ser409Ala) n.1363T>G c.1216T>G (p.Ser406Ala) n.3582T>G c.-1026T>G (n.-1026T>G) c.97T>G (p.Ser33Ala) c.923T>G c.784T>G (p.Ser262Ala) c.1249T>G (p.Ser417Ala) | |
| 13 | g.23355387A>G | CA387549702 | SACS | c.1225T>C (p.Ser409Pro) n.1363T>C c.1216T>C (p.Ser406Pro) n.3582T>C c.-1026T>C (n.-1026T>C) c.97T>C (p.Ser33Pro) c.923T>C c.784T>C (p.Ser262Pro) c.1249T>C (p.Ser417Pro) | |
| 13 | g.23355387A>T | CA387549700 | SACS | c.1225T>A (p.Ser409Thr) n.1363T>A c.1216T>A (p.Ser406Thr) n.3582T>A c.-1026T>A (n.-1026T>A) c.97T>A (p.Ser33Thr) c.923T>A c.784T>A (p.Ser262Thr) c.1249T>A (p.Ser417Thr) | |
| 13 | g.23355388G>A | CA6911949 | SACS | c.1224C>T (p.Asp408=) n.1362C>T c.1215C>T (p.Asp405=) n.3581C>T c.-1027C>T (n.-1027C>T) c.96C>T (p.Asp32=) c.922C>T c.783C>T (p.Asp261=) c.1248C>T (p.Asp416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355388G>C | CA387549710 | SACS | c.1224C>G (p.Asp408Glu) n.1362C>G c.1215C>G (p.Asp405Glu) n.3581C>G c.-1027C>G (n.-1027C>G) c.96C>G (p.Asp32Glu) c.922C>G c.783C>G (p.Asp261Glu) c.1248C>G (p.Asp416Glu) | |
| 13 | g.23355388G= | CA2078658607 | SACS | c.1224C= (p.Asp408=) n.1362C= c.1215C= (p.Asp405=) n.3581C= c.-1027C= (n.-1027C=) c.96C= (p.Asp32=) c.922C= c.783C= (p.Asp261=) c.1248C= (p.Asp416=) | |
| 13 | g.23355388G>T | CA387549711 | SACS | c.1224C>A (p.Asp408Glu) n.1362C>A c.1215C>A (p.Asp405Glu) n.3581C>A c.-1027C>A (n.-1027C>A) c.96C>A (p.Asp32Glu) c.922C>A c.783C>A (p.Asp261Glu) c.1248C>A (p.Asp416Glu) | |
| 13 | g.23355389T>A | CA387549713 | SACS | c.1223A>T (p.Asp408Val) n.1361A>T c.1214A>T (p.Asp405Val) n.3580A>T c.-1028A>T (n.-1028A>T) c.95A>T (p.Asp32Val) c.921A>T c.782A>T (p.Asp261Val) c.1247A>T (p.Asp416Val) | |
| 13 | g.23355389T>C | CA387549714 | SACS | c.1223A>G (p.Asp408Gly) n.1361A>G c.1214A>G (p.Asp405Gly) n.3580A>G c.-1028A>G (n.-1028A>G) c.95A>G (p.Asp32Gly) c.921A>G c.782A>G (p.Asp261Gly) c.1247A>G (p.Asp416Gly) | |
| 13 | g.23355389T>G | CA387549715 | SACS | c.1223A>C (p.Asp408Ala) n.1361A>C c.1214A>C (p.Asp405Ala) n.3580A>C c.-1028A>C (n.-1028A>C) c.95A>C (p.Asp32Ala) c.921A>C c.782A>C (p.Asp261Ala) c.1247A>C (p.Asp416Ala) | gnomAD v4 |
| 13 | g.23355390C>A | CA387549718 | SACS | c.1222G>T (p.Asp408Tyr) n.1360G>T c.1213G>T (p.Asp405Tyr) n.3579G>T c.-1029G>T (n.-1029G>T) c.94G>T (p.Asp32Tyr) c.920G>T c.781G>T (p.Asp261Tyr) c.1246G>T (p.Asp416Tyr) | |
| 13 | g.23355390C= | CA2078658612 | SACS | c.1222G= (p.Asp408=) n.1360G= c.1213G= (p.Asp405=) n.3579G= c.-1029G= (n.-1029G=) c.94G= (p.Asp32=) c.920G= c.781G= (p.Asp261=) c.1246G= (p.Asp416=) | |
| 13 | g.23355390C>G | CA387549719 | SACS | c.1222G>C (p.Asp408His) n.1360G>C c.1213G>C (p.Asp405His) n.3579G>C c.-1029G>C (n.-1029G>C) c.94G>C (p.Asp32His) c.920G>C c.781G>C (p.Asp261His) c.1246G>C (p.Asp416His) | |
| 13 | g.23355390C>T | CA246677944 | SACS | c.1222G>A (p.Asp408Asn) n.1360G>A c.1213G>A (p.Asp405Asn) n.3579G>A c.-1029G>A (n.-1029G>A) c.94G>A (p.Asp32Asn) c.920G>A c.781G>A (p.Asp261Asn) c.1246G>A (p.Asp416Asn) | dbSNP |
| 13 | g.23355391A>C | CA483164542 | SACS | c.1221T>G (p.Leu407=) n.1359T>G c.1212T>G (p.Leu404=) n.3578T>G c.-1030T>G (n.-1030T>G) c.93T>G (p.Leu31=) c.919T>G c.780T>G (p.Leu260=) c.1245T>G (p.Leu415=) | |
| 13 | g.23355391A>G | CA483164543 | SACS | c.1221T>C (p.Leu407=) n.1359T>C c.1212T>C (p.Leu404=) n.3578T>C c.-1030T>C (n.-1030T>C) c.93T>C (p.Leu31=) c.919T>C c.780T>C (p.Leu260=) c.1245T>C (p.Leu415=) | |
| 13 | g.23355391A>T | CA483164544 | SACS | c.1221T>A (p.Leu407=) n.1359T>A c.1212T>A (p.Leu404=) n.3578T>A c.-1030T>A (n.-1030T>A) c.93T>A (p.Leu31=) c.919T>A c.780T>A (p.Leu260=) c.1245T>A (p.Leu415=) | |
| 13 | g.23355392A>C | CA387549723 | SACS | c.1220T>G (p.Leu407Arg) n.1358T>G c.1211T>G (p.Leu404Arg) n.3577T>G c.-1031T>G (n.-1031T>G) c.92T>G (p.Leu31Arg) c.918T>G c.779T>G (p.Leu260Arg) c.1244T>G (p.Leu415Arg) | |
| 13 | g.23355392A>G | CA387549725 | SACS | c.1220T>C (p.Leu407Pro) n.1358T>C c.1211T>C (p.Leu404Pro) n.3577T>C c.-1031T>C (n.-1031T>C) c.92T>C (p.Leu31Pro) c.918T>C c.779T>C (p.Leu260Pro) c.1244T>C (p.Leu415Pro) | |
| 13 | g.23355392A>T | CA387549730 | SACS | c.1220T>A (p.Leu407His) n.1358T>A c.1211T>A (p.Leu404His) n.3577T>A c.-1031T>A (n.-1031T>A) c.92T>A (p.Leu31His) c.918T>A c.779T>A (p.Leu260His) c.1244T>A (p.Leu415His) | |
| 13 | g.23355393G>A | CA387549735 | SACS | c.1219C>T (p.Leu407Phe) n.1357C>T c.1210C>T (p.Leu404Phe) n.3576C>T c.-1032C>T (n.-1032C>T) c.91C>T (p.Leu31Phe) c.917C>T c.778C>T (p.Leu260Phe) c.1243C>T (p.Leu415Phe) | |
| 13 | g.23355393G>C | CA6911951 | SACS | c.1219C>G (p.Leu407Val) n.1357C>G c.1210C>G (p.Leu404Val) n.3576C>G c.-1032C>G (n.-1032C>G) c.91C>G (p.Leu31Val) c.917C>G c.778C>G (p.Leu260Val) c.1243C>G (p.Leu415Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 13 | g.23355393G= | CA2078658615 | SACS | c.1219C= (p.Leu407=) n.1357C= c.1210C= (p.Leu404=) n.3576C= c.-1032C= (n.-1032C=) c.91C= (p.Leu31=) c.917C= c.778C= (p.Leu260=) c.1243C= (p.Leu415=) | |
| 13 | g.23355393G>T | CA6911950 | SACS | c.1219C>A (p.Leu407Ile) n.1357C>A c.1210C>A (p.Leu404Ile) n.3576C>A c.-1032C>A (n.-1032C>A) c.91C>A (p.Leu31Ile) c.917C>A c.778C>A (p.Leu260Ile) c.1243C>A (p.Leu415Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355394C>A | CA387549738 | SACS | c.1218G>T (p.Lys406Asn) n.1356G>T c.1209G>T (p.Lys403Asn) n.3575G>T c.-1033G>T (n.-1033G>T) c.90G>T (p.Lys30Asn) c.916G>T c.777G>T (p.Lys259Asn) c.1242G>T (p.Lys414Asn) | |
| 13 | g.23355394C>G | CA387549737 | SACS | c.1218G>C (p.Lys406Asn) n.1356G>C c.1209G>C (p.Lys403Asn) n.3575G>C c.-1033G>C (n.-1033G>C) c.90G>C (p.Lys30Asn) c.916G>C c.777G>C (p.Lys259Asn) c.1242G>C (p.Lys414Asn) | |
| 13 | g.23355394C>T | CA483164545 | SACS | c.1218G>A (p.Lys406=) n.1356G>A c.1209G>A (p.Lys403=) n.3575G>A c.-1033G>A (n.-1033G>A) c.90G>A (p.Lys30=) c.916G>A c.777G>A (p.Lys259=) c.1242G>A (p.Lys414=) | |
| 13 | g.23355395T>A | CA387549741 | SACS | c.1217A>T (p.Lys406Met) n.1355A>T c.1208A>T (p.Lys403Met) n.3574A>T c.-1034A>T (n.-1034A>T) c.89A>T (p.Lys30Met) c.915A>T c.776A>T (p.Lys259Met) c.1241A>T (p.Lys414Met) | |
| 13 | g.23355395T>C | CA387549743 | SACS | c.1217A>G (p.Lys406Arg) n.1355A>G c.1208A>G (p.Lys403Arg) n.3574A>G c.-1034A>G (n.-1034A>G) c.89A>G (p.Lys30Arg) c.915A>G c.776A>G (p.Lys259Arg) c.1241A>G (p.Lys414Arg) | |
| 13 | g.23355395T>G | CA387549745 | SACS | c.1217A>C (p.Lys406Thr) n.1355A>C c.1208A>C (p.Lys403Thr) n.3574A>C c.-1034A>C (n.-1034A>C) c.89A>C (p.Lys30Thr) c.915A>C c.776A>C (p.Lys259Thr) c.1241A>C (p.Lys414Thr) | |
| 13 | g.23355396T>A | CA387549747 | SACS | c.1216A>T (p.Lys406Ter) n.1354A>T c.1207A>T (p.Lys403Ter) n.3573A>T c.-1035A>T (n.-1035A>T) c.88A>T (p.Lys30Ter) c.914A>T c.775A>T (p.Lys259Ter) c.1240A>T (p.Lys414Ter) | |
| 13 | g.23355396T>C | CA387549749 | SACS | c.1216A>G (p.Lys406Glu) n.1354A>G c.1207A>G (p.Lys403Glu) n.3573A>G c.-1035A>G (n.-1035A>G) c.88A>G (p.Lys30Glu) c.914A>G c.775A>G (p.Lys259Glu) c.1240A>G (p.Lys414Glu) | gnomAD v4 |
| 13 | g.23355396T>G | CA387549751 | SACS | c.1216A>C (p.Lys406Gln) n.1354A>C c.1207A>C (p.Lys403Gln) n.3573A>C c.-1035A>C (n.-1035A>C) c.88A>C (p.Lys30Gln) c.914A>C c.775A>C (p.Lys259Gln) c.1240A>C (p.Lys414Gln) |