UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68781782T>A | CA475194198 | CPT1A | c.1341A>T (p.Arg447=) c.1437A>T (p.Arg479=) | |
| 11 | g.68781782T>C | CA475194195 | CPT1A | c.1341A>G (p.Arg447=) c.1437A>G (p.Arg479=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68781782T>G | CA475194193 | CPT1A | c.1341A>C (p.Arg447=) c.1437A>C (p.Arg479=) | |
| 11 | g.68781783C>A | CA381631291 | CPT1A | c.1340G>T (p.Arg447Leu) c.1436G>T (p.Arg479Leu) | |
| 11 | g.68781783C>G | CA381631292 | CPT1A | c.1340G>C (p.Arg447Pro) c.1436G>C (p.Arg479Pro) | |
| 11 | g.68781783C>T | CA6152352 | CPT1A | c.1340G>A (p.Arg447Gln) c.1436G>A (p.Arg479Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68781784G>A | CA344962 | CPT1A | c.1339C>T (p.Arg447Ter) c.1435C>T (p.Arg479Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68781784G>C | CA381631293 | CPT1A | c.1339C>G (p.Arg447Gly) c.1435C>G (p.Arg479Gly) | |
| 11 | g.68781784G>T | CA475194208 | CPT1A | c.1339C>A (p.Arg447=) c.1435C>A (p.Arg479=) | |
| 11 | g.68781785G>A | CA475194212 | CPT1A | c.1338C>T (p.Gly446=) c.1434C>T (p.Gly478=) | |
| 11 | g.68781785G>C | CA475194215 | CPT1A | c.1338C>G (p.Gly446=) c.1434C>G (p.Gly478=) | |
| 11 | g.68781785G>T | CA475194213 | CPT1A | c.1338C>A (p.Gly446=) c.1434C>A (p.Gly478=) | |
| 11 | g.68781786C>A | CA381631294 | CPT1A | c.1337G>T (p.Gly446Val) c.1433G>T (p.Gly478Val) | |
| 11 | g.68781786C>G | CA381631296 | CPT1A | c.1337G>C (p.Gly446Ala) c.1433G>C (p.Gly478Ala) | |
| 11 | g.68781786C>T | CA381631295 | CPT1A | c.1337G>A (p.Gly446Asp) c.1433G>A (p.Gly478Asp) | |
| 11 | g.68781787C>A | CA381631297 | CPT1A | c.1336G>T (p.Gly446Cys) c.1432G>T (p.Gly478Cys) | |
| 11 | g.68781787C>G | CA381631298 | CPT1A | c.1336G>C (p.Gly446Arg) c.1432G>C (p.Gly478Arg) | |
| 11 | g.68781787C>T | CA6152353 | CPT1A | c.1336G>A (p.Gly446Ser) c.1432G>A (p.Gly478Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781788G>A | CA6152354 | CPT1A | c.1335C>T (p.His445=) c.1431C>T (p.His477=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68781788G>C | CA381631300 | CPT1A | c.1335C>G (p.His445Gln) c.1431C>G (p.His477Gln) | |
| 11 | g.68781788G>T | CA381631299 | CPT1A | c.1335C>A (p.His445Gln) c.1431C>A (p.His477Gln) | gnomAD v4 |
| 11 | g.68781789T>A | CA381631301 | CPT1A | c.1334A>T (p.His445Leu) c.1430A>T (p.His477Leu) | dbSNP gnomAD v4 |
| 11 | g.68781789T>C | CA381631302 | CPT1A | c.1334A>G (p.His445Arg) c.1430A>G (p.His477Arg) | |
| 11 | g.68781789T>G | CA381631303 | CPT1A | c.1334A>C (p.His445Pro) c.1430A>C (p.His477Pro) | gnomAD v4 |
| 11 | g.68781790G>A | CA381631304 | CPT1A | c.1333C>T (p.His445Tyr) c.1429C>T (p.His477Tyr) | |
| 11 | g.68781790G>C | CA381631305 | CPT1A | c.1333C>G (p.His445Asp) c.1429C>G (p.His477Asp) | |
| 11 | g.68781790G>T | CA381631306 | CPT1A | c.1333C>A (p.His445Asn) c.1429C>A (p.His477Asn) | dbSNP |
| 11 | g.68781791T>A | CA475194245 | CPT1A | c.1332A>T (p.Leu444=) c.1428A>T (p.Leu476=) | |
| 11 | g.68781791T>C | CA475194248 | CPT1A | c.1332A>G (p.Leu444=) c.1428A>G (p.Leu476=) | |
| 11 | g.68781791T>G | CA475194249 | CPT1A | c.1332A>C (p.Leu444=) c.1428A>C (p.Leu476=) | |
| 11 | g.68781792A>C | CA381631307 | CPT1A | c.1331T>G (p.Leu444Arg) c.1427T>G (p.Leu476Arg) | |
| 11 | g.68781792A>G | CA381631308 | CPT1A | c.1331T>C (p.Leu444Pro) c.1427T>C (p.Leu476Pro) | |
| 11 | g.68781792A>T | CA381631309 | CPT1A | c.1331T>A (p.Leu444Gln) c.1427T>A (p.Leu476Gln) | |
| 11 | g.68781793G>A | CA475194257 | CPT1A | c.1330C>T (p.Leu444=) c.1426C>T (p.Leu476=) | gnomAD v4 |
| 11 | g.68781793G>C | CA381631310 | CPT1A | c.1330C>G (p.Leu444Val) c.1426C>G (p.Leu476Val) | |
| 11 | g.68781793G>T | CA381631311 | CPT1A | c.1330C>A (p.Leu444Ile) c.1426C>A (p.Leu476Ile) | |
| 11 | g.68781794T>A | CA475194260 | CPT1A | c.1329A>T (p.Leu443=) c.1425A>T (p.Leu475=) | |
| 11 | g.68781794T>C | CA475194262 | CPT1A | c.1329A>G (p.Leu443=) c.1425A>G (p.Leu475=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68781794T>G | CA475194265 | CPT1A | c.1329A>C (p.Leu443=) c.1425A>C (p.Leu475=) | |
| 11 | g.68781795A>C | CA381631314 | CPT1A | c.1328T>G (p.Leu443Arg) c.1424T>G (p.Leu475Arg) | gnomAD v4 |
| 11 | g.68781795A>G | CA381631312 | CPT1A | c.1328T>C (p.Leu443Pro) c.1424T>C (p.Leu475Pro) | |
| 11 | g.68781795A>T | CA381631313 | CPT1A | c.1328T>A (p.Leu443Gln) c.1424T>A (p.Leu475Gln) | |
| 11 | g.68781795dup | CA2573147550 | CPT1A | c.1328dup (p.Leu444ThrfsTer11) c.1424dup (p.Leu476ThrfsTer11) | ClinVar dbSNP |
| 11 | g.68781796G>A | CA475194271 | CPT1A | c.1327C>T (p.Leu443=) c.1423C>T (p.Leu475=) | |
| 11 | g.68781796G>C | CA381631315 | CPT1A | c.1327C>G (p.Leu443Val) c.1423C>G (p.Leu475Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781796G>T | CA381631316 | CPT1A | c.1327C>A (p.Leu443Ile) c.1423C>A (p.Leu475Ile) | |
| 11 | g.68781797A>C | CA475194278 | CPT1A | c.1326T>G (p.Ser442=) c.1422T>G (p.Ser474=) | |
| 11 | g.68781797A>G | CA475194280 | CPT1A | c.1326T>C (p.Ser442=) c.1422T>C (p.Ser474=) | gnomAD v4 |
| 11 | g.68781797A>T | CA475194283 | CPT1A | c.1326T>A (p.Ser442=) c.1422T>A (p.Ser474=) | |
| 11 | g.68781798G>A | CA381631317 | CPT1A | c.1325C>T (p.Ser442Phe) c.1421C>T (p.Ser474Phe) | |
| 11 | g.68781798G>C | CA381631318 | CPT1A | c.1325C>G (p.Ser442Cys) c.1421C>G (p.Ser474Cys) | |
| 11 | g.68781798G>T | CA381631319 | CPT1A | c.1325C>A (p.Ser442Tyr) c.1421C>A (p.Ser474Tyr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68781799A>C | CA381631320 | CPT1A | c.1324T>G (p.Ser442Ala) c.1420T>G (p.Ser474Ala) | |
| 11 | g.68781799A>G | CA381631321 | CPT1A | c.1324T>C (p.Ser442Pro) c.1420T>C (p.Ser474Pro) | |
| 11 | g.68781799A>T | CA381631322 | CPT1A | c.1324T>A (p.Ser442Thr) c.1420T>A (p.Ser474Thr) | |
| 11 | g.68781802_68781818del | CA2574903240 | CPT1A | c.1308_1324del (p.Met436IlefsTer13) c.1404_1420del (p.Met468IlefsTer13) | |
| 11 | g.68781800T>A | CA381631323 | CPT1A | c.1323A>T (p.Lys441Asn) c.1419A>T (p.Lys473Asn) | |
| 11 | g.68781800T>C | CA475194295 | CPT1A | c.1323A>G (p.Lys441=) c.1419A>G (p.Lys473=) | ClinVar dbSNP |
| 11 | g.68781800T>G | CA381631324 | CPT1A | c.1323A>C (p.Lys441Asn) c.1419A>C (p.Lys473Asn) | |
| 11 | g.68781801T>A | CA381631327 | CPT1A | c.1322A>T (p.Lys441Ile) c.1418A>T (p.Lys473Ile) | |
| 11 | g.68781801T>C | CA381631326 | CPT1A | c.1322A>G (p.Lys441Arg) c.1418A>G (p.Lys473Arg) | |
| 11 | g.68781801T>G | CA381631325 | CPT1A | c.1322A>C (p.Lys441Thr) c.1418A>C (p.Lys473Thr) | |
| 11 | g.68781802T>A | CA381631328 | CPT1A | c.1321A>T (p.Lys441Ter) c.1417A>T (p.Lys473Ter) | |
| 11 | g.68781802T>C | CA381631329 | CPT1A | c.1321A>G (p.Lys441Glu) c.1417A>G (p.Lys473Glu) | |
| 11 | g.68781802T>G | CA381631330 | CPT1A | c.1321A>C (p.Lys441Gln) c.1417A>C (p.Lys473Gln) | |
| 11 | g.68781803G>A | CA6152355 | CPT1A | c.1320C>T (p.Ala440=) c.1416C>T (p.Ala472=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781803G>C | CA475195058 | CPT1A | c.1320C>G (p.Ala440=) c.1416C>G (p.Ala472=) | dbSNP gnomAD v2 |
| 11 | g.68781803G>T | CA475195067 | CPT1A | c.1320C>A (p.Ala440=) c.1416C>A (p.Ala472=) | |
| 11 | g.68781804G>A | CA6152356 | CPT1A | c.1319C>T (p.Ala440Val) c.1415C>T (p.Ala472Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781804G>C | CA381631331 | CPT1A | c.1319C>G (p.Ala440Gly) c.1415C>G (p.Ala472Gly) | gnomAD v4 |
| 11 | g.68781804G>T | CA381631332 | CPT1A | c.1319C>A (p.Ala440Asp) c.1415C>A (p.Ala472Asp) | |
| 11 | g.68781805C>A | CA381631333 | CPT1A | c.1318G>T (p.Ala440Ser) c.1414G>T (p.Ala472Ser) | |
| 11 | g.68781805C>G | CA381631334 | CPT1A | c.1318G>C (p.Ala440Pro) c.1414G>C (p.Ala472Pro) | |
| 11 | g.68781805C>T | CA381631335 | CPT1A | c.1318G>A (p.Ala440Thr) c.1414G>A (p.Ala472Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781806G>A | CA6152357 | CPT1A | c.1317C>T (p.Tyr439=) c.1413C>T (p.Tyr471=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781806G>C | CA381631336 | CPT1A | c.1317C>G (p.Tyr439Ter) c.1413C>G (p.Tyr471Ter) | |
| 11 | g.68781806G>T | CA381631337 | CPT1A | c.1317C>A (p.Tyr439Ter) c.1413C>A (p.Tyr471Ter) | |
| 11 | g.68781807T>A | CA381631338 | CPT1A | c.1316A>T (p.Tyr439Phe) c.1412A>T (p.Tyr471Phe) | |
| 11 | g.68781807T>C | CA381631340 | CPT1A | c.1316A>G (p.Tyr439Cys) c.1412A>G (p.Tyr471Cys) | |
| 11 | g.68781807T>G | CA381631339 | CPT1A | c.1316A>C (p.Tyr439Ser) c.1412A>C (p.Tyr471Ser) | |
| 11 | g.68781808A>C | CA381631341 | CPT1A | c.1315T>G (p.Tyr439Asp) c.1411T>G (p.Tyr471Asp) | |
| 11 | g.68781808A>G | CA381631342 | CPT1A | c.1315T>C (p.Tyr439His) c.1411T>C (p.Tyr471His) | |
| 11 | g.68781808A>T | CA381631343 | CPT1A | c.1315T>A (p.Tyr439Asn) c.1411T>A (p.Tyr471Asn) | |
| 11 | g.68781809G>A | CA475195098 | CPT1A | c.1314C>T (p.Ser438=) c.1410C>T (p.Ser470=) | gnomAD v4 |
| 11 | g.68781809G>C | CA381631344 | CPT1A | c.1314C>G (p.Ser438Arg) c.1410C>G (p.Ser470Arg) | |
| 11 | g.68781809G>T | CA381631345 | CPT1A | c.1314C>A (p.Ser438Arg) c.1410C>A (p.Ser470Arg) | |
| 11 | g.68781810C>A | CA381631346 | CPT1A | c.1313G>T (p.Ser438Ile) c.1409G>T (p.Ser470Ile) | |
| 11 | g.68781810C>G | CA381631347 | CPT1A | c.1313G>C (p.Ser438Thr) c.1409G>C (p.Ser470Thr) | |
| 11 | g.68781810C>T | CA381631348 | CPT1A | c.1313G>A (p.Ser438Asn) c.1409G>A (p.Ser470Asn) | |
| 11 | g.68781811T>A | CA381631349 | CPT1A | c.1312A>T (p.Ser438Cys) c.1408A>T (p.Ser470Cys) | |
| 11 | g.68781811T>C | CA381631350 | CPT1A | c.1312A>G (p.Ser438Gly) c.1408A>G (p.Ser470Gly) | |
| 11 | g.68781811T>G | CA381631351 | CPT1A | c.1312A>C (p.Ser438Arg) c.1408A>C (p.Ser470Arg) | |
| 11 | g.68781812G>A | CA475195107 | CPT1A | c.1311C>T (p.Asp437=) c.1407C>T (p.Asp469=) | |
| 11 | g.68781812G>C | CA381631353 | CPT1A | c.1311C>G (p.Asp437Glu) c.1407C>G (p.Asp469Glu) | |
| 11 | g.68781812G>T | CA381631352 | CPT1A | c.1311C>A (p.Asp437Glu) c.1407C>A (p.Asp469Glu) | |
| 11 | g.68781813T>A | CA381631354 | CPT1A | c.1310A>T (p.Asp437Val) c.1406A>T (p.Asp469Val) | |
| 11 | g.68781813T>C | CA381631356 | CPT1A | c.1310A>G (p.Asp437Gly) c.1406A>G (p.Asp469Gly) | |
| 11 | g.68781813T>G | CA381631355 | CPT1A | c.1310A>C (p.Asp437Ala) c.1406A>C (p.Asp469Ala) | |
| 11 | g.68781814C>A | CA381631357 | CPT1A | c.1309G>T (p.Asp437Tyr) c.1405G>T (p.Asp469Tyr) | dbSNP |
| 11 | g.68781814C>G | CA381631358 | CPT1A | c.1309G>C (p.Asp437His) c.1405G>C (p.Asp469His) | |
| 11 | g.68781814C>T | CA381631359 | CPT1A | c.1309G>A (p.Asp437Asn) c.1405G>A (p.Asp469Asn) | |
| 11 | g.68781815C>A | CA381631360 | CPT1A | c.1308G>T (p.Met436Ile) c.1404G>T (p.Met468Ile) | |
| 11 | g.68781815C>G | CA381631361 | CPT1A | c.1308G>C (p.Met436Ile) c.1404G>C (p.Met468Ile) | |
| 11 | g.68781815C>T | CA381631362 | CPT1A | c.1308G>A (p.Met436Ile) c.1404G>A (p.Met468Ile) | |
| 11 | g.68781816A>C | CA381631363 | CPT1A | c.1307T>G (p.Met436Arg) c.1403T>G (p.Met468Arg) | |
| 11 | g.68781816A>G | CA381631364 | CPT1A | c.1307T>C (p.Met436Thr) c.1403T>C (p.Met468Thr) | gnomAD v4 |
| 11 | g.68781816A>T | CA381631365 | CPT1A | c.1307T>A (p.Met436Lys) c.1403T>A (p.Met468Lys) | |
| 11 | g.68781817T>A | CA381631366 | CPT1A | c.1306A>T (p.Met436Leu) c.1402A>T (p.Met468Leu) | dbSNP |
| 11 | g.68781817T>C | CA381631367 | CPT1A | c.1306A>G (p.Met436Val) c.1402A>G (p.Met468Val) | COSMIC COSMIC |
| 11 | g.68781817T>G | CA381631368 | CPT1A | c.1306A>C (p.Met436Leu) c.1402A>C (p.Met468Leu) | |
| 11 | g.68781818T>A | CA475195148 | CPT1A | c.1305A>T (p.Ser435=) c.1401A>T (p.Ser467=) | |
| 11 | g.68781818T>C | CA6152358 | CPT1A | c.1305A>G (p.Ser435=) c.1401A>G (p.Ser467=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781818T>G | CA475195163 | CPT1A | c.1305A>C (p.Ser435=) c.1401A>C (p.Ser467=) | |
| 11 | g.68781819G>A | CA381631369 | CPT1A | c.1304C>T (p.Ser435Leu) c.1400C>T (p.Ser467Leu) | |
| 11 | g.68781819G>C | CA381631370 | CPT1A | c.1304C>G (p.Ser435Ter) c.1400C>G (p.Ser467Ter) | |
| 11 | g.68781819G>T | CA381631371 | CPT1A | c.1304C>A (p.Ser435Ter) c.1400C>A (p.Ser467Ter) | |
| 11 | g.68781820A>C | CA381631372 | CPT1A | c.1303T>G (p.Ser435Ala) c.1399T>G (p.Ser467Ala) | |
| 11 | g.68781820A>G | CA381631373 | CPT1A | c.1303T>C (p.Ser435Pro) c.1399T>C (p.Ser467Pro) | |
| 11 | g.68781820A>T | CA381631374 | CPT1A | c.1303T>A (p.Ser435Thr) c.1399T>A (p.Ser467Thr) | gnomAD v4 |
| 11 | g.68781821C>A | CA475195182 | CPT1A | c.1302G>T (p.Thr434=) c.1398G>T (p.Thr466=) | gnomAD v4 |
| 11 | g.68781821C>G | CA475195184 | CPT1A | c.1302G>C (p.Thr434=) c.1398G>C (p.Thr466=) | dbSNP gnomAD v2 |
| 11 | g.68781821C>T | CA475195186 | CPT1A | c.1302G>A (p.Thr434=) c.1398G>A (p.Thr466=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781822G>A | CA223374240 | CPT1A | c.1301C>T (p.Thr434Met) c.1397C>T (p.Thr466Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68781822G>C | CA381631375 | CPT1A | c.1301C>G (p.Thr434Arg) c.1397C>G (p.Thr466Arg) | |
| 11 | g.68781822G>T | CA381631376 | CPT1A | c.1301C>A (p.Thr434Lys) c.1397C>A (p.Thr466Lys) | |
| 11 | g.68781823T>A | CA381631377 | CPT1A | c.1300A>T (p.Thr434Ser) c.1396A>T (p.Thr466Ser) | |
| 11 | g.68781823T>C | CA381631378 | CPT1A | c.1300A>G (p.Thr434Ala) c.1396A>G (p.Thr466Ala) | |
| 11 | g.68781823T>G | CA381631379 | CPT1A | c.1300A>C (p.Thr434Pro) c.1396A>C (p.Thr466Pro) | |
| 11 | g.68781824A>C | CA381631381 | CPT1A | c.1299T>G (p.Asp433Glu) c.1395T>G (p.Asp465Glu) | |
| 11 | g.68781824A>G | CA475195194 | CPT1A | c.1299T>C (p.Asp433=) c.1395T>C (p.Asp465=) | |
| 11 | g.68781824A>T | CA381631383 | CPT1A | c.1299T>A (p.Asp433Glu) c.1395T>A (p.Asp465Glu) | |
| 11 | g.68781825del | CA16041537 | CPT1A | c.1298del (p.Asp433ValfsTer?) c.1394del (p.Asp465ValfsTer?) | ClinVar dbSNP |
| 11 | g.68781825T>A | CA381631385 | CPT1A | c.1298A>T (p.Asp433Val) c.1394A>T (p.Asp465Val) | |
| 11 | g.68781825T>C | CA381631388 | CPT1A | c.1298A>G (p.Asp433Gly) c.1394A>G (p.Asp465Gly) | |
| 11 | g.68781825T>G | CA381631390 | CPT1A | c.1298A>C (p.Asp433Ala) c.1394A>C (p.Asp465Ala) | |
| 11 | g.68781826C>A | CA381631392 | CPT1A | c.1297G>T (p.Asp433Tyr) c.1393G>T (p.Asp465Tyr) | |
| 11 | g.68781826C>G | CA381631394 | CPT1A | c.1297G>C (p.Asp433His) c.1393G>C (p.Asp465His) | |
| 11 | g.68781826C>T | CA381631395 | CPT1A | c.1297G>A (p.Asp433Asn) c.1393G>A (p.Asp465Asn) | |
| 11 | g.68781827C>A | CA475195216 | CPT1A | c.1296G>T (p.Pro432=) c.1392G>T (p.Pro464=) | |
| 11 | g.68781827C>G | CA223374245 | CPT1A | c.1296G>C (p.Pro432=) c.1392G>C (p.Pro464=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781827C>T | CA6152359 | CPT1A | c.1296G>A (p.Pro432=) c.1392G>A (p.Pro464=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781828G>A | CA6152360 | CPT1A | c.1295C>T (p.Pro432Leu) c.1391C>T (p.Pro464Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781828G>C | CA381631400 | CPT1A | c.1295C>G (p.Pro432Arg) c.1391C>G (p.Pro464Arg) | |
| 11 | g.68781828G>T | CA381631399 | CPT1A | c.1295C>A (p.Pro432Gln) c.1391C>A (p.Pro464Gln) | |
| 11 | g.68781829G>A | CA381631404 | CPT1A | c.1294C>T (p.Pro432Ser) c.1390C>T (p.Pro464Ser) | COSMIC COSMIC |
| 11 | g.68781829G>C | CA381631405 | CPT1A | c.1294C>G (p.Pro432Ala) c.1390C>G (p.Pro464Ala) | |
| 11 | g.68781829G>T | CA381631408 | CPT1A | c.1294C>A (p.Pro432Thr) c.1390C>A (p.Pro464Thr) | |
| 11 | g.68781830G>A | CA6152361 | CPT1A | c.1293C>T (p.Asp431=) c.1389C>T (p.Asp463=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781830G>C | CA381631410 | CPT1A | c.1293C>G (p.Asp431Glu) c.1389C>G (p.Asp463Glu) | |
| 11 | g.68781830G>T | CA381631412 | CPT1A | c.1293C>A (p.Asp431Glu) c.1389C>A (p.Asp463Glu) | |
| 11 | g.68781831T>A | CA381631414 | CPT1A | c.1292A>T (p.Asp431Val) c.1388A>T (p.Asp463Val) | |
| 11 | g.68781831T>C | CA6152362 | CPT1A | c.1292A>G (p.Asp431Gly) c.1388A>G (p.Asp463Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781831T>G | CA381631416 | CPT1A | c.1292A>C (p.Asp431Ala) c.1388A>C (p.Asp463Ala) | |
| 11 | g.68781832C>A | CA381631419 | CPT1A | c.1291G>T (p.Asp431Tyr) c.1387G>T (p.Asp463Tyr) | |
| 11 | g.68781832C>G | CA381631421 | CPT1A | c.1291G>C (p.Asp431His) c.1387G>C (p.Asp463His) | |
| 11 | g.68781832C>T | CA381631422 | CPT1A | c.1291G>A (p.Asp431Asn) c.1387G>A (p.Asp463Asn) | |
| 11 | g.68781833T>A | CA381631425 | CPT1A | c.1290A>T (p.Glu430Asp) c.1386A>T (p.Glu462Asp) | |
| 11 | g.68781833T>C | CA475195248 | CPT1A | c.1290A>G (p.Glu430=) c.1386A>G (p.Glu462=) | |
| 11 | g.68781833T>G | CA381631427 | CPT1A | c.1290A>C (p.Glu430Asp) c.1386A>C (p.Glu462Asp) | |
| 11 | g.68781834T>A | CA381631429 | CPT1A | c.1289A>T (p.Glu430Val) c.1385A>T (p.Glu462Val) | |
| 11 | g.68781834T>C | CA381631431 | CPT1A | c.1289A>G (p.Glu430Gly) c.1385A>G (p.Glu462Gly) | |
| 11 | g.68781834T>G | CA381631433 | CPT1A | c.1289A>C (p.Glu430Ala) c.1385A>C (p.Glu462Ala) | |
| 11 | g.68781835C>A | CA381631435 | CPT1A | c.1288G>T (p.Glu430Ter) c.1384G>T (p.Glu462Ter) | |
| 11 | g.68781835C>G | CA381631437 | CPT1A | c.1288G>C (p.Glu430Gln) c.1384G>C (p.Glu462Gln) | |
| 11 | g.68781835C>T | CA381631438 | CPT1A | c.1288G>A (p.Glu430Lys) c.1384G>A (p.Glu462Lys) | |
| 11 | g.68781836A>C | CA381631440 | CPT1A | c.1287T>G (p.Ser429Arg) c.1383T>G (p.Ser461Arg) | |
| 11 | g.68781836A>G | CA475195264 | CPT1A | c.1287T>C (p.Ser429=) c.1383T>C (p.Ser461=) | |
| 11 | g.68781836A>T | CA381631442 | CPT1A | c.1287T>A (p.Ser429Arg) c.1383T>A (p.Ser461Arg) | |
| 11 | g.68781837C>A | CA381631444 | CPT1A | c.1286G>T (p.Ser429Ile) c.1382G>T (p.Ser461Ile) | gnomAD v4 |
| 11 | g.68781837C>G | CA381631448 | CPT1A | c.1286G>C (p.Ser429Thr) c.1382G>C (p.Ser461Thr) | |
| 11 | g.68781837C>T | CA381631446 | CPT1A | c.1286G>A (p.Ser429Asn) c.1382G>A (p.Ser461Asn) | gnomAD v4 |
| 11 | g.68781838T>A | CA381631450 | CPT1A | c.1285A>T (p.Ser429Cys) c.1381A>T (p.Ser461Cys) | gnomAD v4 |
| 11 | g.68781838T>C | CA381631453 | CPT1A | c.1285A>G (p.Ser429Gly) c.1381A>G (p.Ser461Gly) | |
| 11 | g.68781838T>G | CA381631451 | CPT1A | c.1285A>C (p.Ser429Arg) c.1381A>C (p.Ser461Arg) | gnomAD v4 |
| 11 | g.68781839T>A | CA381631455 | CPT1A | c.1284A>T (p.Arg428Ser) c.1380A>T (p.Arg460Ser) | |
| 11 | g.68781839T>C | CA475195293 | CPT1A | c.1284A>G (p.Arg428=) c.1380A>G (p.Arg460=) | ClinVar dbSNP |
| 11 | g.68781839T>G | CA381631457 | CPT1A | c.1284A>C (p.Arg428Ser) c.1380A>C (p.Arg460Ser) | |
| 11 | g.68781840C>A | CA381631459 | CPT1A | c.1283G>T (p.Arg428Ile) c.1379G>T (p.Arg460Ile) | |
| 11 | g.68781840C>G | CA381631461 | CPT1A | c.1283G>C (p.Arg428Thr) c.1379G>C (p.Arg460Thr) | |
| 11 | g.68781840C>T | CA381631463 | CPT1A | c.1283G>A (p.Arg428Lys) c.1379G>A (p.Arg460Lys) | |
| 11 | g.68781841T>A | CA381631465 | CPT1A | c.1282A>T (p.Arg428Ter) c.1378A>T (p.Arg460Ter) | |
| 11 | g.68781841T>C | CA381631467 | CPT1A | c.1282A>G (p.Arg428Gly) c.1378A>G (p.Arg460Gly) | gnomAD v4 |
| 11 | g.68781841T>G | CA475195307 | CPT1A | c.1282A>C (p.Arg428=) c.1378A>C (p.Arg460=) | |
| 11 | g.68781842G>A | CA475195315 | CPT1A | c.1281C>T (p.Tyr427=) c.1377C>T (p.Tyr459=) | gnomAD v4 |
| 11 | g.68781842G>C | CA381631469 | CPT1A | c.1281C>G (p.Tyr427Ter) c.1377C>G (p.Tyr459Ter) | |
| 11 | g.68781842G>T | CA381631471 | CPT1A | c.1281C>A (p.Tyr427Ter) c.1377C>A (p.Tyr459Ter) | |
| 11 | g.68781843T>A | CA381631473 | CPT1A | c.1280A>T (p.Tyr427Phe) c.1376A>T (p.Tyr459Phe) | |
| 11 | g.68781843T>C | CA381631475 | CPT1A | c.1280A>G (p.Tyr427Cys) c.1376A>G (p.Tyr459Cys) | dbSNP gnomAD v4 |
| 11 | g.68781843T>G | CA381631477 | CPT1A | c.1280A>C (p.Tyr427Ser) c.1376A>C (p.Tyr459Ser) | |
| 11 | g.68781844A>C | CA381631478 | CPT1A | c.1279T>G (p.Tyr427Asp) c.1375T>G (p.Tyr459Asp) | |
| 11 | g.68781844A>G | CA381631482 | CPT1A | c.1279T>C (p.Tyr427His) c.1375T>C (p.Tyr459His) | gnomAD v4 |
| 11 | g.68781844A>T | CA381631480 | CPT1A | c.1279T>A (p.Tyr427Asn) c.1375T>A (p.Tyr459Asn) | |
| 11 | g.68781845T>A | CA475195332 | CPT1A | c.1278A>T (p.Gly426=) c.1374A>T (p.Gly458=) | |
| 11 | g.68781845T>C | CA475195334 | CPT1A | c.1278A>G (p.Gly426=) c.1374A>G (p.Gly458=) | |
| 11 | g.68781845T>G | CA475195338 | CPT1A | c.1278A>C (p.Gly426=) c.1374A>C (p.Gly458=) | |
| 11 | g.68781847_68781850del | CA912972991 | CPT1A | c.1275_1278del (p.Glu425AspfsTer?) c.1371_1374del (p.Glu457AspfsTer?) | |
| 11 | g.68781846C>A | CA381631484 | CPT1A | c.1277G>T (p.Gly426Val) c.1373G>T (p.Gly458Val) | |
| 11 | g.68781846C>G | CA381631485 | CPT1A | c.1277G>C (p.Gly426Ala) c.1373G>C (p.Gly458Ala) | |
| 11 | g.68781846C>T | CA381631487 | CPT1A | c.1277G>A (p.Gly426Glu) c.1373G>A (p.Gly458Glu) | COSMIC COSMIC |
| 11 | g.68781847C>A | CA381631490 | CPT1A | c.1276G>T (p.Gly426Ter) c.1372G>T (p.Gly458Ter) | |
| 11 | g.68781847C>G | CA381631492 | CPT1A | c.1276G>C (p.Gly426Arg) c.1372G>C (p.Gly458Arg) | |
| 11 | g.68781847C>T | CA381631494 | CPT1A | c.1276G>A (p.Gly426Arg) c.1372G>A (p.Gly458Arg) | |
| 11 | g.68781851_68781853del | CA6152363 | CPT1A | c.1274_1276del (p.Glu425del) c.1370_1372del (p.Glu457del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781848T>A | CA381631496 | CPT1A | c.1275A>T (p.Glu425Asp) c.1371A>T (p.Glu457Asp) | |
| 11 | g.68781848T>C | CA475195356 | CPT1A | c.1275A>G (p.Glu425=) c.1371A>G (p.Glu457=) | |
| 11 | g.68781848T>G | CA381631499 | CPT1A | c.1275A>C (p.Glu425Asp) c.1371A>C (p.Glu457Asp) | |
| 11 | g.68781849T>A | CA381631504 | CPT1A | c.1274A>T (p.Glu425Val) c.1370A>T (p.Glu457Val) | |
| 11 | g.68781849T>C | CA381631503 | CPT1A | c.1274A>G (p.Glu425Gly) c.1370A>G (p.Glu457Gly) | |
| 11 | g.68781849T>G | CA381631501 | CPT1A | c.1274A>C (p.Glu425Ala) c.1370A>C (p.Glu457Ala) | |
| 11 | g.68781850C>A | CA381631507 | CPT1A | c.1273G>T (p.Glu425Ter) c.1369G>T (p.Glu457Ter) | |
| 11 | g.68781850C>G | CA381631509 | CPT1A | c.1273G>C (p.Glu425Gln) c.1369G>C (p.Glu457Gln) | |
| 11 | g.68781850C>T | CA381631510 | CPT1A | c.1273G>A (p.Glu425Lys) c.1369G>A (p.Glu457Lys) | gnomAD v4 |
| 11 | g.68781851T>A | CA381631513 | CPT1A | c.1272A>T (p.Glu424Asp) c.1368A>T (p.Glu456Asp) | |
| 11 | g.68781851T>C | CA475195379 | CPT1A | c.1272A>G (p.Glu424=) c.1368A>G (p.Glu456=) | ClinVar gnomAD v4 |
| 11 | g.68781851T>G | CA381631515 | CPT1A | c.1272A>C (p.Glu424Asp) c.1368A>C (p.Glu456Asp) | |
| 11 | g.68781852T>A | CA381631517 | CPT1A | c.1271A>T (p.Glu424Val) c.1367A>T (p.Glu456Val) | |
| 11 | g.68781852T>C | CA381631519 | CPT1A | c.1271A>G (p.Glu424Gly) c.1367A>G (p.Glu456Gly) | |
| 11 | g.68781852T>G | CA381631521 | CPT1A | c.1271A>C (p.Glu424Ala) c.1367A>C (p.Glu456Ala) | |
| 11 | g.68781853C>A | CA381631523 | CPT1A | c.1270G>T (p.Glu424Ter) c.1366G>T (p.Glu456Ter) | |
| 11 | g.68781853C>G | CA381631525 | CPT1A | c.1270G>C (p.Glu424Gln) c.1366G>C (p.Glu456Gln) | |
| 11 | g.68781853C>T | CA381631527 | CPT1A | c.1270G>A (p.Glu424Lys) c.1366G>A (p.Glu456Lys) | gnomAD v4 |
| 11 | g.68781854A>C | CA475195393 | CPT1A | c.1269T>G (p.Thr423=) c.1365T>G (p.Thr455=) | |
| 11 | g.68781854A>G | CA475195397 | CPT1A | c.1269T>C (p.Thr423=) c.1365T>C (p.Thr455=) | ClinVar dbSNP |
| 11 | g.68781854A>T | CA475195395 | CPT1A | c.1269T>A (p.Thr423=) c.1365T>A (p.Thr455=) | |
| 11 | g.68781855G>A | CA381631533 | CPT1A | c.1268C>T (p.Thr423Ile) c.1364C>T (p.Thr455Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68781855G>C | CA381631530 | CPT1A | c.1268C>G (p.Thr423Ser) c.1364C>G (p.Thr455Ser) | |
| 11 | g.68781855G>T | CA381631529 | CPT1A | c.1268C>A (p.Thr423Asn) c.1364C>A (p.Thr455Asn) | |
| 11 | g.68781856T>A | CA381631535 | CPT1A | c.1267A>T (p.Thr423Ser) c.1363A>T (p.Thr455Ser) | |
| 11 | g.68781856T>C | CA381631537 | CPT1A | c.1267A>G (p.Thr423Ala) c.1363A>G (p.Thr455Ala) | |
| 11 | g.68781856T>G | CA381631539 | CPT1A | c.1267A>C (p.Thr423Pro) c.1363A>C (p.Thr455Pro) | gnomAD v4 |
| 11 | g.68781857T>A | CA381631541 | CPT1A | c.1266A>T (p.Glu422Asp) c.1362A>T (p.Glu454Asp) | |
| 11 | g.68781857T>C | CA475195410 | CPT1A | c.1266A>G (p.Glu422=) c.1362A>G (p.Glu454=) | |
| 11 | g.68781857T>G | CA381631543 | CPT1A | c.1266A>C (p.Glu422Asp) c.1362A>C (p.Glu454Asp) | |
| 11 | g.68781858T>A | CA381631545 | CPT1A | c.1265A>T (p.Glu422Val) c.1361A>T (p.Glu454Val) | |
| 11 | g.68781858T>C | CA381631547 | CPT1A | c.1265A>G (p.Glu422Gly) c.1361A>G (p.Glu454Gly) | |
| 11 | g.68781858T>G | CA381631548 | CPT1A | c.1265A>C (p.Glu422Ala) c.1361A>C (p.Glu454Ala) | gnomAD v4 |
| 11 | g.68781859C>A | CA381631551 | CPT1A | c.1264G>T (p.Glu422Ter) c.1360G>T (p.Glu454Ter) | |
| 11 | g.68781859C>G | CA381631552 | CPT1A | c.1264G>C (p.Glu422Gln) c.1360G>C (p.Glu454Gln) | |
| 11 | g.68781859C>T | CA381631554 | CPT1A | c.1264G>A (p.Glu422Lys) c.1360G>A (p.Glu454Lys) | dbSNP gnomAD v4 |
| 11 | g.68781860A>C | CA381631556 | CPT1A | c.1263T>G (p.Asp421Glu) c.1359T>G (p.Asp453Glu) | |
| 11 | g.68781860A>G | CA475195427 | CPT1A | c.1263T>C (p.Asp421=) c.1359T>C (p.Asp453=) | dbSNP |
| 11 | g.68781860A>T | CA381631558 | CPT1A | c.1263T>A (p.Asp421Glu) c.1359T>A (p.Asp453Glu) | |
| 11 | g.68781861T>A | CA381631562 | CPT1A | c.1262A>T (p.Asp421Val) c.1358A>T (p.Asp453Val) | |
| 11 | g.68781861T>C | CA381631564 | CPT1A | c.1262A>G (p.Asp421Gly) c.1358A>G (p.Asp453Gly) | |
| 11 | g.68781861T>G | CA381631560 | CPT1A | c.1262A>C (p.Asp421Ala) c.1358A>C (p.Asp453Ala) | |
| 11 | g.68781862C>A | CA381631569 | CPT1A | c.1261G>T (p.Asp421Tyr) c.1357G>T (p.Asp453Tyr) | |
| 11 | g.68781862C>G | CA381631566 | CPT1A | c.1261G>C (p.Asp421His) c.1357G>C (p.Asp453His) | |
| 11 | g.68781862C>T | CA381631568 | CPT1A | c.1261G>A (p.Asp421Asn) c.1357G>A (p.Asp453Asn) | |
| 11 | g.68781863T>A | CA381631571 | CPT1A | c.1260A>T (p.Leu420Phe) c.1356A>T (p.Leu452Phe) | |
| 11 | g.68781863T>C | CA475195441 | CPT1A | c.1260A>G (p.Leu420=) c.1356A>G (p.Leu452=) | |
| 11 | g.68781863T>G | CA381631573 | CPT1A | c.1260A>C (p.Leu420Phe) c.1356A>C (p.Leu452Phe) | |
| 11 | g.68781864A>C | CA381631575 | CPT1A | c.1259T>G (p.Leu420Ter) c.1355T>G (p.Leu452Ter) | |
| 11 | g.68781864A>G | CA381631577 | CPT1A | c.1259T>C (p.Leu420Ser) c.1355T>C (p.Leu452Ser) | |
| 11 | g.68781864A>T | CA381631579 | CPT1A | c.1259T>A (p.Leu420Ter) c.1355T>A (p.Leu452Ter) | |
| 11 | g.68781868_68781879del | CA6152364 | CPT1A | c.1248_1259del (p.Phe416_Thr419del) c.1344_1355del (p.Phe448_Thr451del) | dbSNP ExAC |
| 11 | g.68781865A>C | CA381631582 | CPT1A | c.1258T>G (p.Leu420Val) c.1354T>G (p.Leu452Val) | |
| 11 | g.68781865A>G | CA475195453 | CPT1A | c.1258T>C (p.Leu420=) c.1354T>C (p.Leu452=) | gnomAD v4 |
| 11 | g.68781865A>T | CA223374255 | CPT1A | c.1258T>A (p.Leu420Ile) c.1354T>A (p.Leu452Ile) | dbSNP |
| 11 | g.68781866C>A | CA475195457 | CPT1A | c.1257G>T (p.Thr419=) c.1353G>T (p.Thr451=) | ClinVar |
| 11 | g.68781866C>G | CA475195459 | CPT1A | c.1257G>C (p.Thr419=) c.1353G>C (p.Thr451=) | gnomAD v4 |
| 11 | g.68781866C>T | CA6152365 | CPT1A | c.1257G>A (p.Thr419=) c.1353G>A (p.Thr451=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781867G>A | CA6152366 | CPT1A | c.1256C>T (p.Thr419Met) c.1352C>T (p.Thr451Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781867G>C | CA381631587 | CPT1A | c.1256C>G (p.Thr419Arg) c.1352C>G (p.Thr451Arg) | |
| 11 | g.68781867G>T | CA381631585 | CPT1A | c.1256C>A (p.Thr419Lys) c.1352C>A (p.Thr451Lys) | |
| 11 | g.68781868T>A | CA381631590 | CPT1A | c.1255A>T (p.Thr419Ser) c.1351A>T (p.Thr451Ser) | |
| 11 | g.68781868T>C | CA381631592 | CPT1A | c.1255A>G (p.Thr419Ala) c.1351A>G (p.Thr451Ala) | |
| 11 | g.68781868T>G | CA381631594 | CPT1A | c.1255A>C (p.Thr419Pro) c.1351A>C (p.Thr451Pro) | |
| 11 | g.68781869C>A | CA475195481 | CPT1A | c.1254G>T (p.Val418=) c.1350G>T (p.Val450=) | |
| 11 | g.68781869C>G | CA475195479 | CPT1A | c.1254G>C (p.Val418=) c.1350G>C (p.Val450=) | |
| 11 | g.68781869C>T | CA475195476 | CPT1A | c.1254G>A (p.Val418=) c.1350G>A (p.Val450=) | |
| 11 | g.68781870A>C | CA381631596 | CPT1A | c.1253T>G (p.Val418Gly) c.1349T>G (p.Val450Gly) | |
| 11 | g.68781870A>G | CA381631598 | CPT1A | c.1253T>C (p.Val418Ala) c.1349T>C (p.Val450Ala) | |
| 11 | g.68781870A>T | CA381631600 | CPT1A | c.1253T>A (p.Val418Glu) c.1349T>A (p.Val450Glu) | |
| 11 | g.68781871C>A | CA381631601 | CPT1A | c.1252G>T (p.Val418Leu) c.1348G>T (p.Val450Leu) | dbSNP |
| 11 | g.68781871C>G | CA381631603 | CPT1A | c.1252G>C (p.Val418Leu) c.1348G>C (p.Val450Leu) | |
| 11 | g.68781871C>T | CA6152367 | CPT1A | c.1252G>A (p.Val418Met) c.1348G>A (p.Val450Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.68781872A= | CA290510 | CPT1A | c.1251T= (p.Phe417=) c.1347T= (p.Phe449=) | |
| 11 | g.68781872A>C | CA381631607 | CPT1A | c.1251T>G (p.Phe417Leu) c.1347T>G (p.Phe449Leu) | dbSNP |
| 11 | g.68781872A>G | CA179929 | CPT1A | c.1251T>C (p.Phe417=) c.1347T>C (p.Phe449=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781872A>T | CA381631609 | CPT1A | c.1251T>A (p.Phe417Leu) c.1347T>A (p.Phe449Leu) | dbSNP |
| 11 | g.68781873A>C | CA381631614 | CPT1A | c.1250T>G (p.Phe417Cys) c.1346T>G (p.Phe449Cys) | |
| 11 | g.68781873A>G | CA381631616 | CPT1A | c.1250T>C (p.Phe417Ser) c.1346T>C (p.Phe449Ser) | |
| 11 | g.68781873A>T | CA381631612 | CPT1A | c.1250T>A (p.Phe417Tyr) c.1346T>A (p.Phe449Tyr) | |
| 11 | g.68781873_68781874insGAACGCTGCTTTCTTCCTTCTTCAGTTTCATCTAACGTCACGA | CA939176364 | CPT1A | c.1250_1251insCGTGACGTTAGATGAAACTGAAGAAGGAAGAAAGCAGCGTTCT (p.Tyr427ArgfsTer10) c.1346_1347insCGTGACGTTAGATGAAACTGAAGAAGGAAGAAAGCAGCGTTCT (p.Tyr459ArgfsTer10) | gnomAD v3 gnomAD v4 |
| 11 | g.68781874A>C | CA381631618 | CPT1A | c.1249T>G (p.Phe417Val) c.1345T>G (p.Phe449Val) | |
| 11 | g.68781874A>G | CA381631620 | CPT1A | c.1249T>C (p.Phe417Leu) c.1345T>C (p.Phe449Leu) | |
| 11 | g.68781874A>T | CA381631622 | CPT1A | c.1249T>A (p.Phe417Ile) c.1345T>A (p.Phe449Ile) | |
| 11 | g.68781875G>A | CA475195510 | CPT1A | c.1248C>T (p.Phe416=) c.1344C>T (p.Phe448=) | |
| 11 | g.68781875G>C | CA381631624 | CPT1A | c.1248C>G (p.Phe416Leu) c.1344C>G (p.Phe448Leu) | |
| 11 | g.68781875G>T | CA381631626 | CPT1A | c.1248C>A (p.Phe416Leu) c.1344C>A (p.Phe448Leu) | |
| 11 | g.68781876A>C | CA381631628 | CPT1A | c.1247T>G (p.Phe416Cys) c.1343T>G (p.Phe448Cys) | |
| 11 | g.68781876A>G | CA381631630 | CPT1A | c.1247T>C (p.Phe416Ser) c.1343T>C (p.Phe448Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781876A>T | CA381631632 | CPT1A | c.1247T>A (p.Phe416Tyr) c.1343T>A (p.Phe448Tyr) | |
| 11 | g.68781877A>C | CA381631635 | CPT1A | c.1246T>G (p.Phe416Val) c.1342T>G (p.Phe448Val) | |
| 11 | g.68781877A>G | CA381631636 | CPT1A | c.1246T>C (p.Phe416Leu) c.1342T>C (p.Phe448Leu) | |
| 11 | g.68781877A>T | CA381631638 | CPT1A | c.1246T>A (p.Phe416Ile) c.1342T>A (p.Phe448Ile) | |
| 11 | g.68781878C>A | CA475195528 | CPT1A | c.1245G>T (p.Ala415=) c.1341G>T (p.Ala447=) | |
| 11 | g.68781878C>G | CA475195531 | CPT1A | c.1245G>C (p.Ala415=) c.1341G>C (p.Ala447=) | |
| 11 | g.68781878C>T | CA6152368 | CPT1A | c.1245G>A (p.Ala415=) c.1341G>A (p.Ala447=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781879G>A | CA6152369 | CPT1A | c.1244C>T (p.Ala415Val) c.1340C>T (p.Ala447Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781879G>C | CA381631644 | CPT1A | c.1244C>G (p.Ala415Gly) c.1340C>G (p.Ala447Gly) | |
| 11 | g.68781879G>T | CA381631641 | CPT1A | c.1244C>A (p.Ala415Glu) c.1340C>A (p.Ala447Glu) | |
| 11 | g.68781880C>A | CA381631646 | CPT1A | c.1243G>T (p.Ala415Ser) c.1339G>T (p.Ala447Ser) | |
| 11 | g.68781880C>G | CA381631648 | CPT1A | c.1243G>C (p.Ala415Pro) c.1339G>C (p.Ala447Pro) | |
| 11 | g.68781880C>T | CA381631650 | CPT1A | c.1243G>A (p.Ala415Thr) c.1339G>A (p.Ala447Thr) | |
| 11 | g.68781881T>A | CA475195546 | CPT1A | c.1242A>T (p.Ala414=) c.1338A>T (p.Ala446=) | |
| 11 | g.68781881T>C | CA475195548 | CPT1A | c.1242A>G (p.Ala414=) c.1338A>G (p.Ala446=) | |
| 11 | g.68781881T>G | CA475195550 | CPT1A | c.1242A>C (p.Ala414=) c.1338A>C (p.Ala446=) | |
| 11 | g.68781882G>A | CA340854 | CPT1A | c.1241C>T (p.Ala414Val) c.1337C>T (p.Ala446Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68781882G>C | CA381631653 | CPT1A | c.1241C>G (p.Ala414Gly) c.1337C>G (p.Ala446Gly) | gnomAD v4 |
| 11 | g.68781882G= | CA2581028851 | CPT1A | c.1241C= (p.Ala414=) c.1337C= (p.Ala446=) | |
| 11 | g.68781882G>T | CA381631655 | CPT1A | c.1241C>A (p.Ala414Glu) c.1337C>A (p.Ala446Glu) |