Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |