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