| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23355322A= | CA2078658524 | SACS | c.1290T= (p.Asp430=) n.1428T= c.1281T= (p.Asp427=) n.3647T= c.-961T= (n.-961T=) c.162T= (p.Asp54=) c.988T= c.849T= (p.Asp283=) c.1314T= (p.Asp438=) | |
| 13 | g.23355322A>C | CA387549236 | SACS | c.1290T>G (p.Asp430Glu) n.1428T>G c.1281T>G (p.Asp427Glu) n.3647T>G c.-961T>G (n.-961T>G) c.162T>G (p.Asp54Glu) c.988T>G c.849T>G (p.Asp283Glu) c.1314T>G (p.Asp438Glu) | |
| 13 | g.23355322A>G | CA483164462 | SACS | c.1290T>C (p.Asp430=) n.1428T>C c.1281T>C (p.Asp427=) n.3647T>C c.-961T>C (n.-961T>C) c.162T>C (p.Asp54=) c.988T>C c.849T>C (p.Asp283=) c.1314T>C (p.Asp438=) | ClinVar dbSNP |
| 13 | g.23355322A>T | CA387549237 | SACS | c.1290T>A (p.Asp430Glu) n.1428T>A c.1281T>A (p.Asp427Glu) n.3647T>A c.-961T>A (n.-961T>A) c.162T>A (p.Asp54Glu) c.988T>A c.849T>A (p.Asp283Glu) c.1314T>A (p.Asp438Glu) | |
| 13 | g.23355323T>A | CA387549242 | SACS | c.1289A>T (p.Asp430Val) n.1427A>T c.1280A>T (p.Asp427Val) n.3646A>T c.-962A>T (n.-962A>T) c.161A>T (p.Asp54Val) c.987A>T c.848A>T (p.Asp283Val) c.1313A>T (p.Asp438Val) | |
| 13 | g.23355323T>C | CA6911934 | SACS | c.1289A>G (p.Asp430Gly) n.1427A>G c.1280A>G (p.Asp427Gly) n.3646A>G c.-962A>G (n.-962A>G) c.161A>G (p.Asp54Gly) c.987A>G c.848A>G (p.Asp283Gly) c.1313A>G (p.Asp438Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23355323T>G | CA387549248 | SACS | c.1289A>C (p.Asp430Ala) n.1427A>C c.1280A>C (p.Asp427Ala) n.3646A>C c.-962A>C (n.-962A>C) c.161A>C (p.Asp54Ala) c.987A>C c.848A>C (p.Asp283Ala) c.1313A>C (p.Asp438Ala) | |
| 13 | g.23355323T= | CA2078658526 | SACS | c.1289A= (p.Asp430=) n.1427A= c.1280A= (p.Asp427=) n.3646A= c.-962A= (n.-962A=) c.161A= (p.Asp54=) c.987A= c.848A= (p.Asp283=) c.1313A= (p.Asp438=) | |
| 13 | g.23355324C>A | CA387549254 | SACS | c.1288G>T (p.Asp430Tyr) n.1426G>T c.1279G>T (p.Asp427Tyr) n.3645G>T c.-963G>T (n.-963G>T) c.160G>T (p.Asp54Tyr) c.986G>T c.847G>T (p.Asp283Tyr) c.1312G>T (p.Asp438Tyr) | COSMIC COSMIC |
| 13 | g.23355324C>G | CA387549257 | SACS | c.1288G>C (p.Asp430His) n.1426G>C c.1279G>C (p.Asp427His) n.3645G>C c.-963G>C (n.-963G>C) c.160G>C (p.Asp54His) c.986G>C c.847G>C (p.Asp283His) c.1312G>C (p.Asp438His) | |
| 13 | g.23355324C>T | CA387549260 | SACS | c.1288G>A (p.Asp430Asn) n.1426G>A c.1279G>A (p.Asp427Asn) n.3645G>A c.-963G>A (n.-963G>A) c.160G>A (p.Asp54Asn) c.986G>A c.847G>A (p.Asp283Asn) c.1312G>A (p.Asp438Asn) | |
| 13 | g.23355325T>A | CA387549265 | SACS | c.1287A>T (p.Arg429Ser) n.1425A>T c.1278A>T (p.Arg426Ser) n.3644A>T c.-964A>T (n.-964A>T) c.159A>T (p.Arg53Ser) c.985A>T c.846A>T (p.Arg282Ser) c.1311A>T (p.Arg437Ser) | |
| 13 | g.23355325T>C | CA483164465 | SACS | c.1287A>G (p.Arg429=) n.1425A>G c.1278A>G (p.Arg426=) n.3644A>G c.-964A>G (n.-964A>G) c.159A>G (p.Arg53=) c.985A>G c.846A>G (p.Arg282=) c.1311A>G (p.Arg437=) | |
| 13 | g.23355325T>G | CA387549267 | SACS | c.1287A>C (p.Arg429Ser) n.1425A>C c.1278A>C (p.Arg426Ser) n.3644A>C c.-964A>C (n.-964A>C) c.159A>C (p.Arg53Ser) c.985A>C c.846A>C (p.Arg282Ser) c.1311A>C (p.Arg437Ser) | |
| 13 | g.23355326C>A | CA387549270 | SACS | c.1286G>T (p.Arg429Ile) n.1424G>T c.1277G>T (p.Arg426Ile) n.3643G>T c.-965G>T (n.-965G>T) c.158G>T (p.Arg53Ile) c.984G>T c.845G>T (p.Arg282Ile) c.1310G>T (p.Arg437Ile) | |
| 13 | g.23355326C>G | CA387549274 | SACS | c.1286G>C (p.Arg429Thr) n.1424G>C c.1277G>C (p.Arg426Thr) n.3643G>C c.-965G>C (n.-965G>C) c.158G>C (p.Arg53Thr) c.984G>C c.845G>C (p.Arg282Thr) c.1310G>C (p.Arg437Thr) | |
| 13 | g.23355326C>T | CA387549272 | SACS | c.1286G>A (p.Arg429Lys) n.1424G>A c.1277G>A (p.Arg426Lys) n.3643G>A c.-965G>A (n.-965G>A) c.158G>A (p.Arg53Lys) c.984G>A c.845G>A (p.Arg282Lys) c.1310G>A (p.Arg437Lys) | |
| 13 | g.23355327T>A | CA387549277 | SACS | c.1285A>T (p.Arg429Ter) n.1423A>T c.1276A>T (p.Arg426Ter) n.3642A>T c.-966A>T (n.-966A>T) c.157A>T (p.Arg53Ter) c.983A>T c.844A>T (p.Arg282Ter) c.1309A>T (p.Arg437Ter) | |
| 13 | g.23355327T>C | CA387549279 | SACS | c.1285A>G (p.Arg429Gly) n.1423A>G c.1276A>G (p.Arg426Gly) n.3642A>G c.-966A>G (n.-966A>G) c.157A>G (p.Arg53Gly) c.983A>G c.844A>G (p.Arg282Gly) c.1309A>G (p.Arg437Gly) | |
| 13 | g.23355327T>G | CA483164468 | SACS | c.1285A>C (p.Arg429=) n.1423A>C c.1276A>C (p.Arg426=) n.3642A>C c.-966A>C (n.-966A>C) c.157A>C (p.Arg53=) c.983A>C c.844A>C (p.Arg282=) c.1309A>C (p.Arg437=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355327T= | CA2078658527 | SACS | c.1285A= (p.Arg429=) n.1423A= c.1276A= (p.Arg426=) n.3642A= c.-966A= (n.-966A=) c.157A= (p.Arg53=) c.983A= c.844A= (p.Arg282=) c.1309A= (p.Arg437=) | |
| 13 | g.23355328G>A | CA246677839 | SACS | c.1284C>T (p.Ser428=) n.1422C>T c.1275C>T (p.Ser425=) n.3641C>T c.-967C>T (n.-967C>T) c.156C>T (p.Ser52=) c.982C>T c.843C>T (p.Ser281=) c.1308C>T (p.Ser436=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355328G>C | CA387549283 | SACS | c.1284C>G (p.Ser428Arg) n.1422C>G c.1275C>G (p.Ser425Arg) n.3641C>G c.-967C>G (n.-967C>G) c.156C>G (p.Ser52Arg) c.982C>G c.843C>G (p.Ser281Arg) c.1308C>G (p.Ser436Arg) | |
| 13 | g.23355328G= | CA2078658529 | SACS | c.1284C= (p.Ser428=) n.1422C= c.1275C= (p.Ser425=) n.3641C= c.-967C= (n.-967C=) c.156C= (p.Ser52=) c.982C= c.843C= (p.Ser281=) c.1308C= (p.Ser436=) | |
| 13 | g.23355328G>T | CA387549285 | SACS | c.1284C>A (p.Ser428Arg) n.1422C>A c.1275C>A (p.Ser425Arg) n.3641C>A c.-967C>A (n.-967C>A) c.156C>A (p.Ser52Arg) c.982C>A c.843C>A (p.Ser281Arg) c.1308C>A (p.Ser436Arg) | |
| 13 | g.23355329C>A | CA387549288 | SACS | c.1283G>T (p.Ser428Ile) n.1421G>T c.1274G>T (p.Ser425Ile) n.3640G>T c.-968G>T (n.-968G>T) c.155G>T (p.Ser52Ile) c.981G>T c.842G>T (p.Ser281Ile) c.1307G>T (p.Ser436Ile) | |
| 13 | g.23355329C>G | CA387549290 | SACS | c.1283G>C (p.Ser428Thr) n.1421G>C c.1274G>C (p.Ser425Thr) n.3640G>C c.-968G>C (n.-968G>C) c.155G>C (p.Ser52Thr) c.981G>C c.842G>C (p.Ser281Thr) c.1307G>C (p.Ser436Thr) | |
| 13 | g.23355329C>T | CA387549293 | SACS | c.1283G>A (p.Ser428Asn) n.1421G>A c.1274G>A (p.Ser425Asn) n.3640G>A c.-968G>A (n.-968G>A) c.155G>A (p.Ser52Asn) c.981G>A c.842G>A (p.Ser281Asn) c.1307G>A (p.Ser436Asn) | |
| 13 | g.23355330T>A | CA387549297 | SACS | c.1282A>T (p.Ser428Cys) n.1420A>T c.1273A>T (p.Ser425Cys) n.3639A>T c.-969A>T (n.-969A>T) c.154A>T (p.Ser52Cys) c.980A>T c.841A>T (p.Ser281Cys) c.1306A>T (p.Ser436Cys) | |
| 13 | g.23355330T>C | CA387549300 | SACS | c.1282A>G (p.Ser428Gly) n.1420A>G c.1273A>G (p.Ser425Gly) n.3639A>G c.-969A>G (n.-969A>G) c.154A>G (p.Ser52Gly) c.980A>G c.841A>G (p.Ser281Gly) c.1306A>G (p.Ser436Gly) | |
| 13 | g.23355330T>G | CA387549303 | SACS | c.1282A>C (p.Ser428Arg) n.1420A>C c.1273A>C (p.Ser425Arg) n.3639A>C c.-969A>C (n.-969A>C) c.154A>C (p.Ser52Arg) c.980A>C c.841A>C (p.Ser281Arg) c.1306A>C (p.Ser436Arg) | |
| 13 | g.23355331T>A | CA483164469 | SACS | c.1281A>T (p.Ser427=) n.1419A>T c.1272A>T (p.Ser424=) n.3638A>T c.-970A>T (n.-970A>T) c.153A>T (p.Ser51=) c.979A>T c.840A>T (p.Ser280=) c.1305A>T (p.Ser435=) | ClinVar |
| 13 | g.23355331T>C | CA483164470 | SACS | c.1281A>G (p.Ser427=) n.1419A>G c.1272A>G (p.Ser424=) n.3638A>G c.-970A>G (n.-970A>G) c.153A>G (p.Ser51=) c.979A>G c.840A>G (p.Ser280=) c.1305A>G (p.Ser435=) | |
| 13 | g.23355331T>G | CA483164472 | SACS | c.1281A>C (p.Ser427=) n.1419A>C c.1272A>C (p.Ser424=) n.3638A>C c.-970A>C (n.-970A>C) c.153A>C (p.Ser51=) c.979A>C c.840A>C (p.Ser280=) c.1305A>C (p.Ser435=) | |
| 13 | g.23355332G>A | CA387549307 | SACS | c.1280C>T (p.Ser427Leu) n.1418C>T c.1271C>T (p.Ser424Leu) n.3637C>T c.-971C>T (n.-971C>T) c.152C>T (p.Ser51Leu) c.978C>T c.839C>T (p.Ser280Leu) c.1304C>T (p.Ser435Leu) | dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.23355332G>C | CA387549309 | SACS | c.1280C>G (p.Ser427Ter) n.1418C>G c.1271C>G (p.Ser424Ter) n.3637C>G c.-971C>G (n.-971C>G) c.152C>G (p.Ser51Ter) c.978C>G c.839C>G (p.Ser280Ter) c.1304C>G (p.Ser435Ter) | |
| 13 | g.23355332G= | CA2078658533 | SACS | c.1280C= (p.Ser427=) n.1418C= c.1271C= (p.Ser424=) n.3637C= c.-971C= (n.-971C=) c.152C= (p.Ser51=) c.978C= c.839C= (p.Ser280=) c.1304C= (p.Ser435=) | |
| 13 | g.23355332G>T | CA387549313 | SACS | c.1280C>A (p.Ser427Ter) n.1418C>A c.1271C>A (p.Ser424Ter) n.3637C>A c.-971C>A (n.-971C>A) c.152C>A (p.Ser51Ter) c.978C>A c.839C>A (p.Ser280Ter) c.1304C>A (p.Ser435Ter) | |
| 13 | g.23355333A>C | CA387549317 | SACS | c.1279T>G (p.Ser427Ala) n.1417T>G c.1270T>G (p.Ser424Ala) n.3636T>G c.-972T>G (n.-972T>G) c.151T>G (p.Ser51Ala) c.977T>G c.838T>G (p.Ser280Ala) c.1303T>G (p.Ser435Ala) | |
| 13 | g.23355333A>G | CA387549321 | SACS | c.1279T>C (p.Ser427Pro) n.1417T>C c.1270T>C (p.Ser424Pro) n.3636T>C c.-972T>C (n.-972T>C) c.151T>C (p.Ser51Pro) c.977T>C c.838T>C (p.Ser280Pro) c.1303T>C (p.Ser435Pro) | |
| 13 | g.23355333A>T | CA387549325 | SACS | c.1279T>A (p.Ser427Thr) n.1417T>A c.1270T>A (p.Ser424Thr) n.3636T>A c.-972T>A (n.-972T>A) c.151T>A (p.Ser51Thr) c.977T>A c.838T>A (p.Ser280Thr) c.1303T>A (p.Ser435Thr) | |
| 13 | g.23355334T>A | CA6911935 | SACS | c.1278A>T (p.Leu426Phe) n.1416A>T c.1269A>T (p.Leu423Phe) n.3635A>T c.-973A>T (n.-973A>T) c.150A>T (p.Leu50Phe) c.976A>T c.837A>T (p.Leu279Phe) c.1302A>T (p.Leu434Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355334T>C | CA483164475 | SACS | c.1278A>G (p.Leu426=) n.1416A>G c.1269A>G (p.Leu423=) n.3635A>G c.-973A>G (n.-973A>G) c.150A>G (p.Leu50=) c.976A>G c.837A>G (p.Leu279=) c.1302A>G (p.Leu434=) | ClinVar gnomAD v4 |
| 13 | g.23355334T>G | CA387549328 | SACS | c.1278A>C (p.Leu426Phe) n.1416A>C c.1269A>C (p.Leu423Phe) n.3635A>C c.-973A>C (n.-973A>C) c.150A>C (p.Leu50Phe) c.976A>C c.837A>C (p.Leu279Phe) c.1302A>C (p.Leu434Phe) | |
| 13 | g.23355334T= | CA2078658538 | SACS | c.1278A= (p.Leu426=) n.1416A= c.1269A= (p.Leu423=) n.3635A= c.-973A= (n.-973A=) c.150A= (p.Leu50=) c.976A= c.837A= (p.Leu279=) c.1302A= (p.Leu434=) | |
| 13 | g.23355335A>C | CA387549333 | SACS | c.1277T>G (p.Leu426Ter) n.1415T>G c.1268T>G (p.Leu423Ter) n.3634T>G c.-974T>G (n.-974T>G) c.149T>G (p.Leu50Ter) c.975T>G c.836T>G (p.Leu279Ter) c.1301T>G (p.Leu434Ter) | |
| 13 | g.23355335A>G | CA387549335 | SACS | c.1277T>C (p.Leu426Ser) n.1415T>C c.1268T>C (p.Leu423Ser) n.3634T>C c.-974T>C (n.-974T>C) c.149T>C (p.Leu50Ser) c.975T>C c.836T>C (p.Leu279Ser) c.1301T>C (p.Leu434Ser) | |
| 13 | g.23355335A>T | CA387549337 | SACS | c.1277T>A (p.Leu426Ter) n.1415T>A c.1268T>A (p.Leu423Ter) n.3634T>A c.-974T>A (n.-974T>A) c.149T>A (p.Leu50Ter) c.975T>A c.836T>A (p.Leu279Ter) c.1301T>A (p.Leu434Ter) | |
| 13 | g.23355336_23355337dup | CA16041652 | SACS | c.1276_1277dup (p.Leu426PhefsTer?) n.1414_1415dup c.1267_1268dup (p.Leu423PhefsTer?) n.3633_3634dup c.-975_-974dup (n.-975_-974dup) c.148_149dup (p.Leu50PhefsTer?) c.974_975dup c.835_836dup (p.Leu279PhefsTer?) c.1300_1301dup (p.Leu434PhefsTer?) | ClinVar dbSNP |
| 13 | g.23355336A>C | CA387549342 | SACS | c.1276T>G (p.Leu426Val) n.1414T>G c.1267T>G (p.Leu423Val) n.3633T>G c.-975T>G (n.-975T>G) c.148T>G (p.Leu50Val) c.974T>G c.835T>G (p.Leu279Val) c.1300T>G (p.Leu434Val) |