Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68794813T>A | CA381634454 | CPT1A | c.870A>T (p.Glu290Asp) c.126A>T (p.Glu42Asp) c.966A>T (p.Glu322Asp) | |
11 | g.68794813T>C | CA475203617 | CPT1A | c.870A>G (p.Glu290=) c.126A>G (p.Glu42=) c.966A>G (p.Glu322=) | gnomAD v4 |
11 | g.68794813T>G | CA381634455 | CPT1A | c.870A>C (p.Glu290Asp) c.126A>C (p.Glu42Asp) c.966A>C (p.Glu322Asp) | |
11 | g.68794814T>A | CA381634458 | CPT1A | c.869A>T (p.Glu290Val) c.125A>T (p.Glu42Val) c.965A>T (p.Glu322Val) | |
11 | g.68794814T>C | CA381634459 | CPT1A | c.869A>G (p.Glu290Gly) c.125A>G (p.Glu42Gly) c.965A>G (p.Glu322Gly) | |
11 | g.68794814T>G | CA381634457 | CPT1A | c.869A>C (p.Glu290Ala) c.125A>C (p.Glu42Ala) c.965A>C (p.Glu322Ala) | |
11 | g.68794815C>A | CA381634460 | CPT1A | c.868G>T (p.Glu290Ter) c.124G>T (p.Glu42Ter) c.964G>T (p.Glu322Ter) | |
11 | g.68794815C>G | CA381634461 | CPT1A | c.868G>C (p.Glu290Gln) c.124G>C (p.Glu42Gln) c.964G>C (p.Glu322Gln) | |
11 | g.68794815C>T | CA381634462 | CPT1A | c.868G>A (p.Glu290Lys) c.124G>A (p.Glu42Lys) c.964G>A (p.Glu322Lys) | |
11 | g.68794816C>A | CA381634463 | CPT1A | c.867G>T (p.Glu289Asp) c.123G>T (p.Glu41Asp) c.963G>T (p.Glu321Asp) | |
11 | g.68794816C>G | CA381634464 | CPT1A | c.867G>C (p.Glu289Asp) c.123G>C (p.Glu41Asp) c.963G>C (p.Glu321Asp) | |
11 | g.68794816C>T | CA475203623 | CPT1A | c.867G>A (p.Glu289=) c.123G>A (p.Glu41=) c.963G>A (p.Glu321=) | dbSNP gnomAD v2 |
11 | g.68794817T>A | CA381634467 | CPT1A | c.866A>T (p.Glu289Val) c.122A>T (p.Glu41Val) c.962A>T (p.Glu321Val) | |
11 | g.68794817T>C | CA381634465 | CPT1A | c.866A>G (p.Glu289Gly) c.122A>G (p.Glu41Gly) c.962A>G (p.Glu321Gly) | |
11 | g.68794817T>G | CA381634466 | CPT1A | c.866A>C (p.Glu289Ala) c.122A>C (p.Glu41Ala) c.962A>C (p.Glu321Ala) | |
11 | g.68794818C>A | CA381634468 | CPT1A | c.865G>T (p.Glu289Ter) c.121G>T (p.Glu41Ter) c.961G>T (p.Glu321Ter) | |
11 | g.68794818C>G | CA381634469 | CPT1A | c.865G>C (p.Glu289Gln) c.121G>C (p.Glu41Gln) c.961G>C (p.Glu321Gln) | |
11 | g.68794818C>T | CA6152503 | CPT1A | c.865G>A (p.Glu289Lys) c.121G>A (p.Glu41Lys) c.961G>A (p.Glu321Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68794819C>A | CA475203629 | CPT1A | c.864G>T (p.Arg288=) c.120G>T (p.Arg40=) c.960G>T (p.Arg320=) | |
11 | g.68794819C>G | CA475203633 | CPT1A | c.864G>C (p.Arg288=) c.120G>C (p.Arg40=) c.960G>C (p.Arg320=) | |
11 | g.68794819C>T | CA475203635 | CPT1A | c.864G>A (p.Arg288=) c.120G>A (p.Arg40=) c.960G>A (p.Arg320=) | |
11 | g.68794820C>A | CA381634470 | CPT1A | c.863G>T (p.Arg288Leu) c.119G>T (p.Arg40Leu) c.959G>T (p.Arg320Leu) | gnomAD v4 |
11 | g.68794820C= | CA2581028866 | CPT1A | c.863G= (p.Arg288=) c.119G= (p.Arg40=) c.959G= (p.Arg320=) | |
11 | g.68794820C>G | CA381634471 | CPT1A | c.863G>C (p.Arg288Pro) c.119G>C (p.Arg40Pro) c.959G>C (p.Arg320Pro) | |
11 | g.68794820C>T | CA312413 | CPT1A | c.863G>A (p.Arg288Gln) c.119G>A (p.Arg40Gln) c.959G>A (p.Arg320Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794821G>A | CA6152504 | CPT1A | c.862C>T (p.Arg288Trp) c.118C>T (p.Arg40Trp) c.958C>T (p.Arg320Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.68794821G>C | CA381634472 | CPT1A | c.862C>G (p.Arg288Gly) c.118C>G (p.Arg40Gly) c.958C>G (p.Arg320Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794821G>T | CA475203654 | CPT1A | c.862C>A (p.Arg288=) c.118C>A (p.Arg40=) c.958C>A (p.Arg320=) | |
11 | g.68794822G>A | CA475203659 | CPT1A | c.861C>T (p.Asp287=) c.117C>T (p.Asp39=) c.957C>T (p.Asp319=) | |
11 | g.68794822G>C | CA381634473 | CPT1A | c.861C>G (p.Asp287Glu) c.117C>G (p.Asp39Glu) c.957C>G (p.Asp319Glu) | |
11 | g.68794822G>T | CA381634474 | CPT1A | c.861C>A (p.Asp287Glu) c.117C>A (p.Asp39Glu) c.957C>A (p.Asp319Glu) | |
11 | g.68794823T>A | CA381634475 | CPT1A | c.860A>T (p.Asp287Val) c.116A>T (p.Asp39Val) c.956A>T (p.Asp319Val) | |
11 | g.68794823T>C | CA381634477 | CPT1A | c.860A>G (p.Asp287Gly) c.116A>G (p.Asp39Gly) c.956A>G (p.Asp319Gly) | |
11 | g.68794823T>G | CA381634476 | CPT1A | c.860A>C (p.Asp287Ala) c.116A>C (p.Asp39Ala) c.956A>C (p.Asp319Ala) | |
11 | g.68794824C>A | CA381634478 | CPT1A | c.859G>T (p.Asp287Tyr) c.115G>T (p.Asp39Tyr) c.955G>T (p.Asp319Tyr) | |
11 | g.68794824C>G | CA381634479 | CPT1A | c.859G>C (p.Asp287His) c.115G>C (p.Asp39His) c.955G>C (p.Asp319His) | |
11 | g.68794824C>T | CA381634480 | CPT1A | c.859G>A (p.Asp287Asn) c.115G>A (p.Asp39Asn) c.955G>A (p.Asp319Asn) | |
11 | g.68794825C>A | CA475203672 | CPT1A | c.858G>T (p.Leu286=) c.114G>T (p.Leu38=) c.954G>T (p.Leu318=) | |
11 | g.68794825C>G | CA475203674 | CPT1A | c.858G>C (p.Leu286=) c.114G>C (p.Leu38=) c.954G>C (p.Leu318=) | |
11 | g.68794825C>T | CA475203677 | CPT1A | c.858G>A (p.Leu286=) c.114G>A (p.Leu38=) c.954G>A (p.Leu318=) | |
11 | g.68794826A>C | CA381634481 | CPT1A | c.857T>G (p.Leu286Arg) c.113T>G (p.Leu38Arg) c.953T>G (p.Leu318Arg) | gnomAD v4 |
11 | g.68794826A>G | CA381634482 | CPT1A | c.857T>C (p.Leu286Pro) c.113T>C (p.Leu38Pro) c.953T>C (p.Leu318Pro) | |
11 | g.68794826A>T | CA381634483 | CPT1A | c.857T>A (p.Leu286Gln) c.113T>A (p.Leu38Gln) c.953T>A (p.Leu318Gln) | |
11 | g.68794827G>A | CA475203686 | CPT1A | c.856C>T (p.Leu286=) c.112C>T (p.Leu38=) c.952C>T (p.Leu318=) | gnomAD v4 |
11 | g.68794827G>C | CA381634484 | CPT1A | c.856C>G (p.Leu286Val) c.112C>G (p.Leu38Val) c.952C>G (p.Leu318Val) | dbSNP gnomAD v4 |
11 | g.68794827G>T | CA381634485 | CPT1A | c.856C>A (p.Leu286Met) c.112C>A (p.Leu38Met) c.952C>A (p.Leu318Met) | |
11 | g.68794828T>A | CA381634486 | CPT1A | c.855A>T (p.Lys285Asn) c.111A>T (p.Lys37Asn) c.951A>T (p.Lys317Asn) | |
11 | g.68794828T>C | CA475203702 | CPT1A | c.855A>G (p.Lys285=) c.111A>G (p.Lys37=) c.951A>G (p.Lys317=) | |
11 | g.68794828T>G | CA381634487 | CPT1A | c.855A>C (p.Lys285Asn) c.111A>C (p.Lys37Asn) c.951A>C (p.Lys317Asn) | |
11 | g.68794829T>A | CA381634490 | CPT1A | c.854A>T (p.Lys285Ile) c.110A>T (p.Lys37Ile) c.950A>T (p.Lys317Ile) |