Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
11 | g.68807478T>A | CA381636563 | CPT1A | c.442A>T (p.Lys148Ter) c.538A>T (p.Lys180Ter) | |
11 | g.68807478T>C | CA381636564 | CPT1A | c.442A>G (p.Lys148Glu) c.538A>G (p.Lys180Glu) | dbSNP |
11 | g.68807478T>G | CA381636565 | CPT1A | c.442A>C (p.Lys148Gln) c.538A>C (p.Lys180Gln) | |
11 | g.68807479G>A | CA475207247 | CPT1A | c.441C>T (p.Thr147=) c.537C>T (p.Thr179=) | ClinVar dbSNP |
11 | g.68807479G>C | CA475207249 | CPT1A | c.441C>G (p.Thr147=) c.537C>G (p.Thr179=) | |
11 | g.68807479G>T | CA475207248 | CPT1A | c.441C>A (p.Thr147=) c.537C>A (p.Thr179=) | |
11 | g.68807480G>A | CA6152682 | CPT1A | c.440C>T (p.Thr147Ile) c.536C>T (p.Thr179Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68807480G>C | CA381636566 | CPT1A | c.440C>G (p.Thr147Ser) c.536C>G (p.Thr179Ser) | |
11 | g.68807480G>T | CA381636567 | CPT1A | c.440C>A (p.Thr147Asn) c.536C>A (p.Thr179Asn) | |
11 | g.68807481T>A | CA381636568 | CPT1A | c.439A>T (p.Thr147Ser) c.535A>T (p.Thr179Ser) | |
11 | g.68807481T>C | CA381636569 | CPT1A | c.439A>G (p.Thr147Ala) c.535A>G (p.Thr179Ala) | |
11 | g.68807481T>G | CA381636570 | CPT1A | c.439A>C (p.Thr147Pro) c.535A>C (p.Thr179Pro) | |
11 | g.68807482G>A | CA475207250 | CPT1A | c.438C>T (p.Ala146=) c.534C>T (p.Ala178=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68807482G>C | CA475207251 | CPT1A | c.438C>G (p.Ala146=) c.534C>G (p.Ala178=) | |
11 | g.68807482G>T | CA475207252 | CPT1A | c.438C>A (p.Ala146=) c.534C>A (p.Ala178=) | COSMIC COSMIC |
11 | g.68807483G>A | CA381636573 | CPT1A | c.437C>T (p.Ala146Val) c.533C>T (p.Ala178Val) | COSMIC COSMIC |
11 | g.68807483G>C | CA381636572 | CPT1A | c.437C>G (p.Ala146Gly) c.533C>G (p.Ala178Gly) | |
11 | g.68807483G>T | CA381636571 | CPT1A | c.437C>A (p.Ala146Asp) c.533C>A (p.Ala178Asp) | |
11 | g.68807484C>A | CA381636574 | CPT1A | c.436G>T (p.Ala146Ser) c.532G>T (p.Ala178Ser) | |
11 | g.68807484C>G | CA381636575 | CPT1A | c.436G>C (p.Ala146Pro) c.532G>C (p.Ala178Pro) | |
11 | g.68807484C>T | CA381636576 | CPT1A | c.436G>A (p.Ala146Thr) c.532G>A (p.Ala178Thr) | dbSNP |
11 | g.68807485A>C | CA475207255 | CPT1A | c.435T>G (p.Arg145=) c.531T>G (p.Arg177=) | |
11 | g.68807485A>G | CA475207253 | CPT1A | c.435T>C (p.Arg145=) c.531T>C (p.Arg177=) |