| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68807454G>A | CA2614737276 | CPT1A | c.453+13C>T (n.453+13C>T) c.549+13C>T (n.549+13C>T) | gnomAD v4 |
| 11 | g.68807455A>T | CA2614737277 | CPT1A | c.453+12T>A (n.453+12T>A) c.549+12T>A (n.549+12T>A) | dbSNP gnomAD v4 |
| 11 | g.68807458C>G | CA6152675 | CPT1A | c.453+9G>C (n.453+9G>C) c.549+9G>C (n.549+9G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807458C>T | CA6152676 | CPT1A | c.453+9G>A (n.453+9G>A) c.549+9G>A (n.549+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807459G>A | CA223396205 | CPT1A | c.453+8C>T (n.453+8C>T) c.549+8C>T (n.549+8C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807460C>T | CA2739270630 | CPT1A | c.453+7G>A (n.453+7G>A) c.549+7G>A (n.549+7G>A) | ClinVar |
| 11 | g.68807461A>G | CA6152677 | CPT1A | c.453+6T>C (n.453+6T>C) c.549+6T>C (n.549+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807462_68807465dup | CA2614737296 | CPT1A | c.453+3_453+6dup (n.453+3_453+6dup) c.549+3_549+6dup (n.549+3_549+6dup) | gnomAD v4 |
| 11 | g.68807462A>G | CA6152678 | CPT1A | c.453+5T>C (n.453+5T>C) c.549+5T>C (n.549+5T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807465A>C | CA381636529 | CPT1A | c.453+2T>G (n.453+2T>G) c.549+2T>G (n.549+2T>G) | |
| 11 | g.68807465A>G | CA381636530 | CPT1A | c.453+2T>C (n.453+2T>C) c.549+2T>C (n.549+2T>C) | |
| 11 | g.68807465A>T | CA381636531 | CPT1A | c.453+2T>A (n.453+2T>A) c.549+2T>A (n.549+2T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68807465dup | CA6152679 | CPT1A | c.453+2dup (n.453+2dup) c.549+2dup (n.549+2dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68807466C>A | CA381636532 | CPT1A | c.453+1G>T (n.453+1G>T) c.549+1G>T (n.549+1G>T) | |
| 11 | g.68807466C>G | CA381636533 | CPT1A | c.453+1G>C (n.453+1G>C) c.549+1G>C (n.549+1G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68807466C>T | CA381636534 | CPT1A | c.453+1G>A (n.453+1G>A) c.549+1G>A (n.549+1G>A) | |
| 11 | g.68807467dup | CA2740098010 | CPT1A | c.453+1dup c.549+1dup | |
| 11 | g.68807467C>A | CA381636535 | CPT1A | c.453G>T (p.Met151Ile) c.549G>T (p.Met183Ile) | |
| 11 | g.68807467C>G | CA381636536 | CPT1A | c.453G>C (p.Met151Ile) c.549G>C (p.Met183Ile) | |
| 11 | g.68807467C>T | CA381636537 | CPT1A | c.453G>A (p.Met151Ile) c.549G>A (p.Met183Ile) | gnomAD v4 |
| 11 | g.68807468A>C | CA381636538 | CPT1A | c.452T>G (p.Met151Arg) c.548T>G (p.Met183Arg) | |
| 11 | g.68807468A>G | CA381636539 | CPT1A | c.452T>C (p.Met151Thr) c.548T>C (p.Met183Thr) | |
| 11 | g.68807468A>T | CA381636540 | CPT1A | c.452T>A (p.Met151Lys) c.548T>A (p.Met183Lys) | |
| 11 | g.68807469T>A | CA381636541 | CPT1A | c.451A>T (p.Met151Leu) c.547A>T (p.Met183Leu) | |
| 11 | g.68807469T>C | CA381636543 | CPT1A | c.451A>G (p.Met151Val) c.547A>G (p.Met183Val) | |
| 11 | g.68807469T>G | CA381636542 | CPT1A | c.451A>C (p.Met151Leu) c.547A>C (p.Met183Leu) | |
| 11 | g.68807470C>A | CA6152680 | CPT1A | c.450G>T (p.Trp150Cys) c.546G>T (p.Trp182Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68807470C>G | CA381636545 | CPT1A | c.450G>C (p.Trp150Cys) c.546G>C (p.Trp182Cys) | |
| 11 | g.68807470C>T | CA381636544 | CPT1A | c.450G>A (p.Trp150Ter) c.546G>A (p.Trp182Ter) | |
| 11 | g.68807471C>A | CA381636546 | CPT1A | c.449G>T (p.Trp150Leu) c.545G>T (p.Trp182Leu) | |
| 11 | g.68807471C>G | CA381636548 | CPT1A | c.449G>C (p.Trp150Ser) c.545G>C (p.Trp182Ser) | |
| 11 | g.68807471C>T | CA381636547 | CPT1A | c.449G>A (p.Trp150Ter) c.545G>A (p.Trp182Ter) | ClinVar gnomAD v4 |
| 11 | g.68807472A>C | CA381636549 | CPT1A | c.448T>G (p.Trp150Gly) c.544T>G (p.Trp182Gly) | |
| 11 | g.68807472A>G | CA381636550 | CPT1A | c.448T>C (p.Trp150Arg) c.544T>C (p.Trp182Arg) | |
| 11 | g.68807472A>T | CA381636551 | CPT1A | c.448T>A (p.Trp150Arg) c.544T>A (p.Trp182Arg) | |
| 11 | g.68807473G>A | CA475207244 | CPT1A | c.447C>T (p.Ile149=) c.543C>T (p.Ile181=) | COSMIC COSMIC |
| 11 | g.68807473G>C | CA381636552 | CPT1A | c.447C>G (p.Ile149Met) c.543C>G (p.Ile181Met) | |
| 11 | g.68807473G>T | CA475207245 | CPT1A | c.447C>A (p.Ile149=) c.543C>A (p.Ile181=) | |
| 11 | g.68807474A>C | CA381636553 | CPT1A | c.446T>G (p.Ile149Ser) c.542T>G (p.Ile181Ser) | |
| 11 | g.68807474A>G | CA6152681 | CPT1A | c.446T>C (p.Ile149Thr) c.542T>C (p.Ile181Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68807474A>T | CA381636554 | CPT1A | c.446T>A (p.Ile149Asn) c.542T>A (p.Ile181Asn) | |
| 11 | g.68807475T>A | CA381636555 | CPT1A | c.445A>T (p.Ile149Phe) c.541A>T (p.Ile181Phe) | |
| 11 | g.68807475T>C | CA381636556 | CPT1A | c.445A>G (p.Ile149Val) c.541A>G (p.Ile181Val) | |
| 11 | g.68807475T>G | CA381636557 | CPT1A | c.445A>C (p.Ile149Leu) c.541A>C (p.Ile181Leu) | |
| 11 | g.68807476C>A | CA381636558 | CPT1A | c.444G>T (p.Lys148Asn) c.540G>T (p.Lys180Asn) | gnomAD v4 COSMIC COSMIC |
| 11 | g.68807476C>G | CA381636559 | CPT1A | c.444G>C (p.Lys148Asn) c.540G>C (p.Lys180Asn) | |
| 11 | g.68807476C>T | CA475207246 | CPT1A | c.444G>A (p.Lys148=) c.540G>A (p.Lys180=) | ClinVar gnomAD v4 |
| 11 | g.68807477T>A | CA381636560 | CPT1A | c.443A>T (p.Lys148Met) c.539A>T (p.Lys180Met) | |
| 11 | g.68807477T>C | CA381636562 | CPT1A | c.443A>G (p.Lys148Arg) c.539A>G (p.Lys180Arg) | dbSNP gnomAD v2 |
| 11 | g.68807477T>G | CA381636561 | CPT1A | c.443A>C (p.Lys148Thr) c.539A>C (p.Lys180Thr) |