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