| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 11 | g.68781883C>A | CA381631661 | CPT1A | c.1240G>T (p.Ala414Ser) c.1336G>T (p.Ala446Ser) | |
| 11 | g.68781883C>G | CA381631657 | CPT1A | c.1240G>C (p.Ala414Pro) c.1336G>C (p.Ala446Pro) | gnomAD v4 |
| 11 | g.68781883C>T | CA381631659 | CPT1A | c.1240G>A (p.Ala414Thr) c.1336G>A (p.Ala446Thr) | |
| 11 | g.68781884T>A | CA381631663 | CPT1A | c.1239A>T (p.Lys413Asn) c.1335A>T (p.Lys445Asn) | |
| 11 | g.68781884T>C | CA475195562 | CPT1A | c.1239A>G (p.Lys413=) c.1335A>G (p.Lys445=) | ClinVar dbSNP |
| 11 | g.68781884T>G | CA381631665 | CPT1A | c.1239A>C (p.Lys413Asn) c.1335A>C (p.Lys445Asn) | |
| 11 | g.68781885T>A | CA381631667 | CPT1A | c.1238A>T (p.Lys413Ile) c.1334A>T (p.Lys445Ile) | |
| 11 | g.68781885T>C | CA381631668 | CPT1A | c.1238A>G (p.Lys413Arg) c.1334A>G (p.Lys445Arg) | |
| 11 | g.68781885T>G | CA381631669 | CPT1A | c.1238A>C (p.Lys413Thr) c.1334A>C (p.Lys445Thr) | |
| 11 | g.68781886T>A | CA381631675 | CPT1A | c.1237A>T (p.Lys413Ter) c.1333A>T (p.Lys445Ter) | |
| 11 | g.68781886T>C | CA381631673 | CPT1A | c.1237A>G (p.Lys413Glu) c.1333A>G (p.Lys445Glu) | |
| 11 | g.68781886T>G | CA381631671 | CPT1A | c.1237A>C (p.Lys413Gln) c.1333A>C (p.Lys445Gln) | |
| 11 | g.68781887C>A | CA381631677 | CPT1A | c.1236G>T (p.Glu412Asp) c.1332G>T (p.Glu444Asp) | |
| 11 | g.68781887C>G | CA381631679 | CPT1A | c.1236G>C (p.Glu412Asp) c.1332G>C (p.Glu444Asp) | |
| 11 | g.68781887C>T | CA475195578 | CPT1A | c.1236G>A (p.Glu412=) c.1332G>A (p.Glu444=) | |
| 11 | g.68781888T>A | CA381631682 | CPT1A | c.1235A>T (p.Glu412Val) c.1331A>T (p.Glu444Val) | |
| 11 | g.68781888T>C | CA381631686 | CPT1A | c.1235A>G (p.Glu412Gly) c.1331A>G (p.Glu444Gly) | |
| 11 | g.68781888T>G | CA381631684 | CPT1A | c.1235A>C (p.Glu412Ala) c.1331A>C (p.Glu444Ala) | |
| 11 | g.68781889C>A | CA381631688 | CPT1A | c.1234G>T (p.Glu412Ter) c.1330G>T (p.Glu444Ter) | |
| 11 | g.68781889C>G | CA381631692 | CPT1A | c.1234G>C (p.Glu412Gln) c.1330G>C (p.Glu444Gln) | |
| 11 | g.68781889C>T | CA381631690 | CPT1A | c.1234G>A (p.Glu412Lys) c.1330G>A (p.Glu444Lys) | ClinVar dbSNP |
| 11 | g.68781890C>A | CA475195588 | CPT1A | c.1233G>T (p.Val411=) c.1329G>T (p.Val443=) | |
| 11 | g.68781890C>G | CA475195590 | CPT1A | c.1233G>C (p.Val411=) c.1329G>C (p.Val443=) | |
| 11 | g.68781890C>T | CA223374274 | CPT1A | c.1233G>A (p.Val411=) c.1329G>A (p.Val443=) | dbSNP gnomAD v4 |
| 11 | g.68781891A>C | CA381631693 | CPT1A | c.1232T>G (p.Val411Gly) c.1328T>G (p.Val443Gly) | |
| 11 | g.68781891A>G | CA381631694 | CPT1A | c.1232T>C (p.Val411Ala) c.1328T>C (p.Val443Ala) | |
| 11 | g.68781891A>T | CA381631696 | CPT1A | c.1232T>A (p.Val411Glu) c.1328T>A (p.Val443Glu) | |
| 11 | g.68781892C>A | CA381631698 | CPT1A | c.1231G>T (p.Val411Leu) c.1327G>T (p.Val443Leu) | |
| 11 | g.68781892C>G | CA381631699 | CPT1A | c.1231G>C (p.Val411Leu) c.1327G>C (p.Val443Leu) | |
| 11 | g.68781892C>T | CA381631701 | CPT1A | c.1231G>A (p.Val411Met) c.1327G>A (p.Val443Met) | |
| 11 | g.68781893A>C | CA475195606 | CPT1A | c.1230T>G (p.Ala410=) c.1326T>G (p.Ala442=) | |
| 11 | g.68781893A>G | CA475195609 | CPT1A | c.1230T>C (p.Ala410=) c.1326T>C (p.Ala442=) | |
| 11 | g.68781893A>T | CA475195611 | CPT1A | c.1230T>A (p.Ala410=) c.1326T>A (p.Ala442=) | |
| 11 | g.68781894G>A | CA381631704 | CPT1A | c.1229C>T (p.Ala410Val) c.1325C>T (p.Ala442Val) | |
| 11 | g.68781894G>C | CA381631705 | CPT1A | c.1229C>G (p.Ala410Gly) c.1325C>G (p.Ala442Gly) | |
| 11 | g.68781894G>T | CA381631706 | CPT1A | c.1229C>A (p.Ala410Asp) c.1325C>A (p.Ala442Asp) | |
| 11 | g.68781895C>A | CA381631712 | CPT1A | c.1228G>T (p.Ala410Ser) c.1324G>T (p.Ala442Ser) | |
| 11 | g.68781895C>G | CA381631711 | CPT1A | c.1228G>C (p.Ala410Pro) c.1324G>C (p.Ala442Pro) | |
| 11 | g.68781895C>T | CA381631709 | CPT1A | c.1228G>A (p.Ala410Thr) c.1324G>A (p.Ala442Thr) | |
| 11 | g.68781896A>C | CA381631713 | CPT1A | c.1227T>G (p.Asp409Glu) c.1323T>G (p.Asp441Glu) | |
| 11 | g.68781896A>G | CA475195630 | CPT1A | c.1227T>C (p.Asp409=) c.1323T>C (p.Asp441=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781896A>T | CA381631715 | CPT1A | c.1227T>A (p.Asp409Glu) c.1323T>A (p.Asp441Glu) | |
| 11 | g.68781897T>A | CA381631717 | CPT1A | c.1226A>T (p.Asp409Val) c.1322A>T (p.Asp441Val) | |
| 11 | g.68781897T>C | CA381631719 | CPT1A | c.1226A>G (p.Asp409Gly) c.1322A>G (p.Asp441Gly) | |
| 11 | g.68781897T>G | CA381631721 | CPT1A | c.1226A>C (p.Asp409Ala) c.1322A>C (p.Asp441Ala) | |
| 11 | g.68781898C>A | CA381631723 | CPT1A | c.1225G>T (p.Asp409Tyr) c.1321G>T (p.Asp441Tyr) | |
| 11 | g.68781898C>G | CA381631725 | CPT1A | c.1225G>C (p.Asp409His) c.1321G>C (p.Asp441His) | |
| 11 | g.68781898C>T | CA381631727 | CPT1A | c.1225G>A (p.Asp409Asn) c.1321G>A (p.Asp441Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781899A>C | CA475195650 | CPT1A | c.1224T>G (p.Leu408=) c.1320T>G (p.Leu440=) | |
| 11 | g.68781899A>G | CA475195651 | CPT1A | c.1224T>C (p.Leu408=) c.1320T>C (p.Leu440=) | |
| 11 | g.68781899A>T | CA475195649 | CPT1A | c.1224T>A (p.Leu408=) c.1320T>A (p.Leu440=) | |
| 11 | g.68781900A>C | CA381631729 | CPT1A | c.1223T>G (p.Leu408Arg) c.1319T>G (p.Leu440Arg) | gnomAD v4 |
| 11 | g.68781900A>G | CA381631730 | CPT1A | c.1223T>C (p.Leu408Pro) c.1319T>C (p.Leu440Pro) | |
| 11 | g.68781900A>T | CA381631731 | CPT1A | c.1223T>A (p.Leu408His) c.1319T>A (p.Leu440His) | |
| 11 | g.68781901G>A | CA381631736 | CPT1A | c.1222C>T (p.Leu408Phe) c.1318C>T (p.Leu440Phe) | |
| 11 | g.68781901G>C | CA381631734 | CPT1A | c.1222C>G (p.Leu408Val) c.1318C>G (p.Leu440Val) | |
| 11 | g.68781901G>T | CA381631732 | CPT1A | c.1222C>A (p.Leu408Ile) c.1318C>A (p.Leu440Ile) | |
| 11 | g.68781902A>C | CA475195657 | CPT1A | c.1221T>G (p.Ser407=) c.1317T>G (p.Ser439=) | |
| 11 | g.68781902A>G | CA475195659 | CPT1A | c.1221T>C (p.Ser407=) c.1317T>C (p.Ser439=) | |
| 11 | g.68781902A>T | CA475195664 | CPT1A | c.1221T>A (p.Ser407=) c.1317T>A (p.Ser439=) | gnomAD v4 |
| 11 | g.68781903G>A | CA381631737 | CPT1A | c.1220C>T (p.Ser407Phe) c.1316C>T (p.Ser439Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68781903G>C | CA381631739 | CPT1A | c.1220C>G (p.Ser407Cys) c.1316C>G (p.Ser439Cys) | |
| 11 | g.68781903G>T | CA381631741 | CPT1A | c.1220C>A (p.Ser407Tyr) c.1316C>A (p.Ser439Tyr) | |
| 11 | g.68781904A>C | CA381631743 | CPT1A | c.1219T>G (p.Ser407Ala) c.1315T>G (p.Ser439Ala) | |
| 11 | g.68781904A>G | CA381631745 | CPT1A | c.1219T>C (p.Ser407Pro) c.1315T>C (p.Ser439Pro) | |
| 11 | g.68781904A>T | CA381631748 | CPT1A | c.1219T>A (p.Ser407Thr) c.1315T>A (p.Ser439Thr) | |
| 11 | g.68781905C>A | CA381631750 | CPT1A | c.1218G>T (p.Gln406His) c.1314G>T (p.Gln438His) | gnomAD v4 |
| 11 | g.68781905C>G | CA381631755 | CPT1A | c.1218G>C (p.Gln406His) c.1314G>C (p.Gln438His) | |
| 11 | g.68781905C>T | CA475195681 | CPT1A | c.1218G>A (p.Gln406=) c.1314G>A (p.Gln438=) | ClinVar gnomAD v4 |
| 11 | g.68781906T>A | CA381631759 | CPT1A | c.1217A>T (p.Gln406Leu) c.1313A>T (p.Gln438Leu) | gnomAD v4 |
| 11 | g.68781906T>C | CA381631761 | CPT1A | c.1217A>G (p.Gln406Arg) c.1313A>G (p.Gln438Arg) | gnomAD v4 |
| 11 | g.68781906T>G | CA381631762 | CPT1A | c.1217A>C (p.Gln406Pro) c.1313A>C (p.Gln438Pro) | |
| 11 | g.68781907G>A | CA381631768 | CPT1A | c.1216C>T (p.Gln406Ter) c.1312C>T (p.Gln438Ter) | ClinVar dbSNP |
| 11 | g.68781907G>C | CA381631766 | CPT1A | c.1216C>G (p.Gln406Glu) c.1312C>G (p.Gln438Glu) | |
| 11 | g.68781907G>T | CA381631764 | CPT1A | c.1216C>A (p.Gln406Lys) c.1312C>A (p.Gln438Lys) | dbSNP |
| 11 | g.68781908C>A | CA381631770 | CPT1A | c.1215G>T (p.Lys405Asn) c.1311G>T (p.Lys437Asn) | |
| 11 | g.68781908C>G | CA381631771 | CPT1A | c.1215G>C (p.Lys405Asn) c.1311G>C (p.Lys437Asn) | |
| 11 | g.68781908C>T | CA475195701 | CPT1A | c.1215G>A (p.Lys405=) c.1311G>A (p.Lys437=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781909T>A | CA381631773 | CPT1A | c.1214A>T (p.Lys405Met) c.1310A>T (p.Lys437Met) | |
| 11 | g.68781909T>C | CA381631775 | CPT1A | c.1214A>G (p.Lys405Arg) c.1310A>G (p.Lys437Arg) | |
| 11 | g.68781909T>G | CA381631779 | CPT1A | c.1214A>C (p.Lys405Thr) c.1310A>C (p.Lys437Thr) | |
| 11 | g.68781910T>A | CA381631781 | CPT1A | c.1213A>T (p.Lys405Ter) c.1309A>T (p.Lys437Ter) | ClinVar |
| 11 | g.68781910T>C | CA381631783 | CPT1A | c.1213A>G (p.Lys405Glu) c.1309A>G (p.Lys437Glu) | |
| 11 | g.68781910T>G | CA381631784 | CPT1A | c.1213A>C (p.Lys405Gln) c.1309A>C (p.Lys437Gln) | |
| 11 | g.68781911A>C | CA381631785 | CPT1A | c.1212T>G (p.Asn404Lys) c.1308T>G (p.Asn436Lys) | |
| 11 | g.68781911A>G | CA475195718 | CPT1A | c.1212T>C (p.Asn404=) c.1308T>C (p.Asn436=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.68781911A>T | CA381631786 | CPT1A | c.1212T>A (p.Asn404Lys) c.1308T>A (p.Asn436Lys) | |
| 11 | g.68781912T>A | CA381631787 | CPT1A | c.1211A>T (p.Asn404Ile) c.1307A>T (p.Asn436Ile) | |
| 11 | g.68781912T>C | CA381631788 | CPT1A | c.1211A>G (p.Asn404Ser) c.1307A>G (p.Asn436Ser) | |
| 11 | g.68781912T>G | CA381631790 | CPT1A | c.1211A>C (p.Asn404Thr) c.1307A>C (p.Asn436Thr) | |
| 11 | g.68781916dup | CA2574903241 | CPT1A | c.1211dup (p.Asn404LysfsTer2) c.1307dup (p.Asn436LysfsTer2) | |
| 11 | g.68781913T>A | CA381631794 | CPT1A | c.1210A>T (p.Asn404Tyr) c.1306A>T (p.Asn436Tyr) | |
| 11 | g.68781913T>C | CA381631795 | CPT1A | c.1210A>G (p.Asn404Asp) c.1306A>G (p.Asn436Asp) | |
| 11 | g.68781913T>G | CA381631793 | CPT1A | c.1210A>C (p.Asn404His) c.1306A>C (p.Asn436His) | |
| 11 | g.68781914T>A | CA381631799 | CPT1A | c.1209A>T (p.Lys403Asn) c.1305A>T (p.Lys435Asn) | |
| 11 | g.68781914T>C | CA475195733 | CPT1A | c.1209A>G (p.Lys403=) c.1305A>G (p.Lys435=) | gnomAD v4 |
| 11 | g.68781914T>G | CA381631798 | CPT1A | c.1209A>C (p.Lys403Asn) c.1305A>C (p.Lys435Asn) | |
| 11 | g.68781915T>A | CA381631801 | CPT1A | c.1208A>T (p.Lys403Ile) c.1304A>T (p.Lys435Ile) | dbSNP gnomAD v4 |
| 11 | g.68781915T>C | CA381631803 | CPT1A | c.1208A>G (p.Lys403Arg) c.1304A>G (p.Lys435Arg) | |
| 11 | g.68781915T>G | CA381631805 | CPT1A | c.1208A>C (p.Lys403Thr) c.1304A>C (p.Lys435Thr) | |
| 11 | g.68781916T>A | CA381631807 | CPT1A | c.1207A>T (p.Lys403Ter) c.1303A>T (p.Lys435Ter) | |
| 11 | g.68781916T>C | CA381631809 | CPT1A | c.1207A>G (p.Lys403Glu) c.1303A>G (p.Lys435Glu) | |
| 11 | g.68781916T>G | CA381631813 | CPT1A | c.1207A>C (p.Lys403Gln) c.1303A>C (p.Lys435Gln) | |
| 11 | g.68781917C>A | CA475195746 | CPT1A | c.1206G>T (p.Gly402=) c.1302G>T (p.Gly434=) | |
| 11 | g.68781917C>G | CA475195748 | CPT1A | c.1206G>C (p.Gly402=) c.1302G>C (p.Gly434=) | |
| 11 | g.68781917C>T | CA475195750 | CPT1A | c.1206G>A (p.Gly402=) c.1302G>A (p.Gly434=) | |
| 11 | g.68781919_68781994del | CA2614734979 | CPT1A | c.1164-33_1206del c.1260-33_1302del | gnomAD v4 |
| 11 | g.68781918C>A | CA381631814 | CPT1A | c.1205G>T (p.Gly402Val) c.1301G>T (p.Gly434Val) | |
| 11 | g.68781918C>G | CA381631815 | CPT1A | c.1205G>C (p.Gly402Ala) c.1301G>C (p.Gly434Ala) | |
| 11 | g.68781918C>T | CA381631817 | CPT1A | c.1205G>A (p.Gly402Glu) c.1301G>A (p.Gly434Glu) | |
| 11 | g.68781919C>A | CA381631818 | CPT1A | c.1204G>T (p.Gly402Trp) c.1300G>T (p.Gly434Trp) | |
| 11 | g.68781919C>G | CA381631819 | CPT1A | c.1204G>C (p.Gly402Arg) c.1300G>C (p.Gly434Arg) | |
| 11 | g.68781919C>T | CA381631821 | CPT1A | c.1204G>A (p.Gly402Arg) c.1300G>A (p.Gly434Arg) | gnomAD v4 |
| 11 | g.68781920del | CA2739270623 | CPT1A | c.1203del (p.Asn404IlefsTer15) c.1299del (p.Asn436IlefsTer15) | ClinVar |
| 11 | g.68781920A>C | CA475195775 | CPT1A | c.1203T>G (p.Arg401=) c.1299T>G (p.Arg433=) | |
| 11 | g.68781920A>G | CA475195769 | CPT1A | c.1203T>C (p.Arg401=) c.1299T>C (p.Arg433=) | |
| 11 | g.68781920A>T | CA475195766 | CPT1A | c.1203T>A (p.Arg401=) c.1299T>A (p.Arg433=) | |
| 11 | g.68781921C>A | CA381631825 | CPT1A | c.1202G>T (p.Arg401Leu) c.1298G>T (p.Arg433Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68781921C>G | CA381631823 | CPT1A | c.1202G>C (p.Arg401Pro) c.1298G>C (p.Arg433Pro) | |
| 11 | g.68781921C>T | CA6152370 | CPT1A | c.1202G>A (p.Arg401His) c.1298G>A (p.Arg433His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68781922G>A | CA223374277 | CPT1A | c.1201C>T (p.Arg401Cys) c.1297C>T (p.Arg433Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781922G>C | CA381631827 | CPT1A | c.1201C>G (p.Arg401Gly) c.1297C>G (p.Arg433Gly) | |
| 11 | g.68781922G>T | CA381631829 | CPT1A | c.1201C>A (p.Arg401Ser) c.1297C>A (p.Arg433Ser) | gnomAD v4 |
| 11 | g.68781923T>A | CA475195799 | CPT1A | c.1200A>T (p.Gly400=) c.1296A>T (p.Gly432=) | |
| 11 | g.68781923T>C | CA475195798 | CPT1A | c.1200A>G (p.Gly400=) c.1296A>G (p.Gly432=) | |
| 11 | g.68781923T>G | CA475195795 | CPT1A | c.1200A>C (p.Gly400=) c.1296A>C (p.Gly432=) | |
| 11 | g.68781924C>A | CA381631832 | CPT1A | c.1199G>T (p.Gly400Val) c.1295G>T (p.Gly432Val) | |
| 11 | g.68781924C>G | CA223374278 | CPT1A | c.1199G>C (p.Gly400Ala) c.1295G>C (p.Gly432Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781924C>T | CA381631835 | CPT1A | c.1199G>A (p.Gly400Glu) c.1295G>A (p.Gly432Glu) | COSMIC |
| 11 | g.68781925C>A | CA381631837 | CPT1A | c.1198G>T (p.Gly400Ter) c.1294G>T (p.Gly432Ter) | |
| 11 | g.68781925C>G | CA381631838 | CPT1A | c.1198G>C (p.Gly400Arg) c.1294G>C (p.Gly432Arg) | |
| 11 | g.68781925C>T | CA381631840 | CPT1A | c.1198G>A (p.Gly400Arg) c.1294G>A (p.Gly432Arg) | gnomAD v4 |
| 11 | g.68781926A>C | CA381631842 | CPT1A | c.1197T>G (p.Phe399Leu) c.1293T>G (p.Phe431Leu) | |
| 11 | g.68781926A>G | CA6152371 | CPT1A | c.1197T>C (p.Phe399=) c.1293T>C (p.Phe431=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781926A>T | CA381631845 | CPT1A | c.1197T>A (p.Phe399Leu) c.1293T>A (p.Phe431Leu) | |
| 11 | g.68781927A>C | CA381631852 | CPT1A | c.1196T>G (p.Phe399Cys) c.1292T>G (p.Phe431Cys) | |
| 11 | g.68781927A>G | CA381631850 | CPT1A | c.1196T>C (p.Phe399Ser) c.1292T>C (p.Phe431Ser) | |
| 11 | g.68781927A>T | CA381631848 | CPT1A | c.1196T>A (p.Phe399Tyr) c.1292T>A (p.Phe431Tyr) | |
| 11 | g.68781928A>C | CA381631853 | CPT1A | c.1195T>G (p.Phe399Val) c.1291T>G (p.Phe431Val) | |
| 11 | g.68781928A>G | CA381631855 | CPT1A | c.1195T>C (p.Phe399Leu) c.1291T>C (p.Phe431Leu) | |
| 11 | g.68781928A>T | CA381631857 | CPT1A | c.1195T>A (p.Phe399Ile) c.1291T>A (p.Phe431Ile) | |
| 11 | g.68781929A>C | CA381631867 | CPT1A | c.1194T>G (p.Tyr398Ter) c.1290T>G (p.Tyr430Ter) | |
| 11 | g.68781929A>G | CA475195830 | CPT1A | c.1194T>C (p.Tyr398=) c.1290T>C (p.Tyr430=) | |
| 11 | g.68781929A>T | CA381631870 | CPT1A | c.1194T>A (p.Tyr398Ter) c.1290T>A (p.Tyr430Ter) | |
| 11 | g.68781930T>A | CA381631879 | CPT1A | c.1193A>T (p.Tyr398Phe) c.1289A>T (p.Tyr430Phe) | |
| 11 | g.68781930T>C | CA381631876 | CPT1A | c.1193A>G (p.Tyr398Cys) c.1289A>G (p.Tyr430Cys) | gnomAD v4 |
| 11 | g.68781930T>G | CA381631875 | CPT1A | c.1193A>C (p.Tyr398Ser) c.1289A>C (p.Tyr430Ser) | |
| 11 | g.68781931A>C | CA381631882 | CPT1A | c.1192T>G (p.Tyr398Asp) c.1288T>G (p.Tyr430Asp) | |
| 11 | g.68781931A>G | CA381631883 | CPT1A | c.1192T>C (p.Tyr398His) c.1288T>C (p.Tyr430His) | ClinVar dbSNP |
| 11 | g.68781931A>T | CA381631886 | CPT1A | c.1192T>A (p.Tyr398Asn) c.1288T>A (p.Tyr430Asn) | |
| 11 | g.68781932G>A | CA475195840 | CPT1A | c.1191C>T (p.Ala397=) c.1287C>T (p.Ala429=) | |
| 11 | g.68781932G>C | CA475195842 | CPT1A | c.1191C>G (p.Ala397=) c.1287C>G (p.Ala429=) | |
| 11 | g.68781932G>T | CA475195844 | CPT1A | c.1191C>A (p.Ala397=) c.1287C>A (p.Ala429=) | |
| 11 | g.68781933G>A | CA381631889 | CPT1A | c.1190C>T (p.Ala397Val) c.1286C>T (p.Ala429Val) | |
| 11 | g.68781933G>C | CA381631891 | CPT1A | c.1190C>G (p.Ala397Gly) c.1286C>G (p.Ala429Gly) | |
| 11 | g.68781933G>T | CA381631894 | CPT1A | c.1190C>A (p.Ala397Asp) c.1286C>A (p.Ala429Asp) | |
| 11 | g.68781934C>A | CA381631896 | CPT1A | c.1189G>T (p.Ala397Ser) c.1285G>T (p.Ala429Ser) | |
| 11 | g.68781934C>G | CA381631902 | CPT1A | c.1189G>C (p.Ala397Pro) c.1285G>C (p.Ala429Pro) | |
| 11 | g.68781934C>T | CA381631898 | CPT1A | c.1189G>A (p.Ala397Thr) c.1285G>A (p.Ala429Thr) | ClinVar gnomAD v4 |
| 11 | g.68781935C>A | CA381631905 | CPT1A | c.1188G>T (p.Gln396His) c.1284G>T (p.Gln428His) | |
| 11 | g.68781935C>G | CA381631907 | CPT1A | c.1188G>C (p.Gln396His) c.1284G>C (p.Gln428His) | |
| 11 | g.68781935C>T | CA475195863 | CPT1A | c.1188G>A (p.Gln396=) c.1284G>A (p.Gln428=) | ClinVar |
| 11 | g.68781936T>A | CA381631909 | CPT1A | c.1187A>T (p.Gln396Leu) c.1283A>T (p.Gln428Leu) | |
| 11 | g.68781936T>C | CA381631914 | CPT1A | c.1187A>G (p.Gln396Arg) c.1283A>G (p.Gln428Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68781936T>G | CA381631915 | CPT1A | c.1187A>C (p.Gln396Pro) c.1283A>C (p.Gln428Pro) | |
| 11 | g.68781937G>A | CA381631917 | CPT1A | c.1186C>T (p.Gln396Ter) c.1282C>T (p.Gln428Ter) | |
| 11 | g.68781937G>C | CA381631919 | CPT1A | c.1186C>G (p.Gln396Glu) c.1282C>G (p.Gln428Glu) | |
| 11 | g.68781937G>T | CA381631921 | CPT1A | c.1186C>A (p.Gln396Lys) c.1282C>A (p.Gln428Lys) | |
| 11 | g.68781940_68781942del | CA2695214941 | CPT1A | c.1184_1186del (p.Arg395del) c.1280_1282del (p.Arg427del) | |
| 11 | g.68781938A>C | CA475195873 | CPT1A | c.1185T>G (p.Arg395=) c.1281T>G (p.Arg427=) | |
| 11 | g.68781938A>G | CA475195874 | CPT1A | c.1185T>C (p.Arg395=) c.1281T>C (p.Arg427=) | |
| 11 | g.68781938A>T | CA475195877 | CPT1A | c.1185T>A (p.Arg395=) c.1281T>A (p.Arg427=) | |
| 11 | g.68781939C>A | CA381631929 | CPT1A | c.1184G>T (p.Arg395Leu) c.1280G>T (p.Arg427Leu) | |
| 11 | g.68781939C>G | CA381631932 | CPT1A | c.1184G>C (p.Arg395Pro) c.1280G>C (p.Arg427Pro) | ClinVar dbSNP |
| 11 | g.68781939C>T | CA6152372 | CPT1A | c.1184G>A (p.Arg395His) c.1280G>A (p.Arg427His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |