SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 11 | g.68807485A>T | CA475207254 | CPT1A | c.435T>A (p.Arg145=) c.531T>A (p.Arg177=) | gnomAD v4 |
| 11 | g.68807486C>A | CA6152684 | CPT1A | c.434G>T (p.Arg145Leu) c.530G>T (p.Arg177Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68807486C>G | CA381636577 | CPT1A | c.434G>C (p.Arg145Pro) c.530G>C (p.Arg177Pro) | gnomAD v4 |
| 11 | g.68807486C>T | CA6152683 | CPT1A | c.434G>A (p.Arg145His) c.530G>A (p.Arg177His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68807487G>A | CA6152686 | CPT1A | c.433C>T (p.Arg145Cys) c.529C>T (p.Arg177Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807487G>C | CA6152685 | CPT1A | c.433C>G (p.Arg145Gly) c.529C>G (p.Arg177Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807487G>T | CA381636578 | CPT1A | c.433C>A (p.Arg145Ser) c.529C>A (p.Arg177Ser) | gnomAD v4 |
| 11 | g.68807488A>C | CA381636579 | CPT1A | c.432T>G (p.Ser144Arg) c.528T>G (p.Ser176Arg) | |
| 11 | g.68807488A>G | CA6152687 | CPT1A | c.432T>C (p.Ser144=) c.528T>C (p.Ser176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807488A>T | CA381636580 | CPT1A | c.432T>A (p.Ser144Arg) c.528T>A (p.Ser176Arg) | |
| 11 | g.68807489C>A | CA381636583 | CPT1A | c.431G>T (p.Ser144Ile) c.527G>T (p.Ser176Ile) | dbSNP |
| 11 | g.68807489C>G | CA381636581 | CPT1A | c.431G>C (p.Ser144Thr) c.527G>C (p.Ser176Thr) | |
| 11 | g.68807489C>T | CA381636582 | CPT1A | c.431G>A (p.Ser144Asn) c.527G>A (p.Ser176Asn) | |
| 11 | g.68807490T>A | CA381636584 | CPT1A | c.430A>T (p.Ser144Cys) c.526A>T (p.Ser176Cys) | |
| 11 | g.68807490T>C | CA381636585 | CPT1A | c.430A>G (p.Ser144Gly) c.526A>G (p.Ser176Gly) | |
| 11 | g.68807490T>G | CA381636586 | CPT1A | c.430A>C (p.Ser144Arg) c.526A>C (p.Ser176Arg) | |
| 11 | g.68807491C>A | CA381636587 | CPT1A | c.429G>T (p.Met143Ile) c.525G>T (p.Met175Ile) | |
| 11 | g.68807491C>G | CA381636588 | CPT1A | c.429G>C (p.Met143Ile) c.525G>C (p.Met175Ile) | |
| 11 | g.68807491C>T | CA381636589 | CPT1A | c.429G>A (p.Met143Ile) c.525G>A (p.Met175Ile) | gnomAD v4 |
| 11 | g.68807492A>C | CA381636590 | CPT1A | c.428T>G (p.Met143Arg) c.524T>G (p.Met175Arg) | |
| 11 | g.68807492A>G | CA381636591 | CPT1A | c.428T>C (p.Met143Thr) c.524T>C (p.Met175Thr) | |
| 11 | g.68807492A>T | CA381636592 | CPT1A | c.428T>A (p.Met143Lys) c.524T>A (p.Met175Lys) | |
| 11 | g.68807493T>A | CA381636593 | CPT1A | c.427A>T (p.Met143Leu) c.523A>T (p.Met175Leu) | |
| 11 | g.68807493T>C | CA381636594 | CPT1A | c.427A>G (p.Met143Val) c.523A>G (p.Met175Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68807493T>G | CA381636595 | CPT1A | c.427A>C (p.Met143Leu) c.523A>C (p.Met175Leu) | |
| 11 | g.68807494C>A | CA381636597 | CPT1A | c.426G>T (p.Lys142Asn) c.522G>T (p.Lys174Asn) | |
| 11 | g.68807494C>G | CA381636596 | CPT1A | c.426G>C (p.Lys142Asn) c.522G>C (p.Lys174Asn) | gnomAD v4 |
| 11 | g.68807494C>T | CA475207256 | CPT1A | c.426G>A (p.Lys142=) c.522G>A (p.Lys174=) | gnomAD v4 |
| 11 | g.68807495T>A | CA381636598 | CPT1A | c.425A>T (p.Lys142Met) c.521A>T (p.Lys174Met) | |
| 11 | g.68807495T>C | CA381636600 | CPT1A | c.425A>G (p.Lys142Arg) c.521A>G (p.Lys174Arg) | |
| 11 | g.68807495T>G | CA381636599 | CPT1A | c.425A>C (p.Lys142Thr) c.521A>C (p.Lys174Thr) | |
| 11 | g.68807496T>A | CA381636601 | CPT1A | c.424A>T (p.Lys142Ter) c.520A>T (p.Lys174Ter) | |
| 11 | g.68807496T>C | CA381636602 | CPT1A | c.424A>G (p.Lys142Glu) c.520A>G (p.Lys174Glu) | |
| 11 | g.68807496T>G | CA381636603 | CPT1A | c.424A>C (p.Lys142Gln) c.520A>C (p.Lys174Gln) | |
| 11 | g.68807497G>A | CA475207257 | CPT1A | c.423C>T (p.Gly141=) c.519C>T (p.Gly173=) | |
| 11 | g.68807497G>C | CA475207258 | CPT1A | c.423C>G (p.Gly141=) c.519C>G (p.Gly173=) | |
| 11 | g.68807497G>T | CA475207259 | CPT1A | c.423C>A (p.Gly141=) c.519C>A (p.Gly173=) | |
| 11 | g.68807498C>A | CA381636604 | CPT1A | c.422G>T (p.Gly141Val) c.518G>T (p.Gly173Val) | |
| 11 | g.68807498C>G | CA381636605 | CPT1A | c.422G>C (p.Gly141Ala) c.518G>C (p.Gly173Ala) | |
| 11 | g.68807498C>T | CA381636606 | CPT1A | c.422G>A (p.Gly141Asp) c.518G>A (p.Gly173Asp) | gnomAD v4 |
| 11 | g.68807499C>A | CA381636607 | CPT1A | c.421G>T (p.Gly141Cys) c.517G>T (p.Gly173Cys) | |
| 11 | g.68807499C>G | CA381636608 | CPT1A | c.421G>C (p.Gly141Arg) c.517G>C (p.Gly173Arg) | |
| 11 | g.68807499C>T | CA381636609 | CPT1A | c.421G>A (p.Gly141Ser) c.517G>A (p.Gly173Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807500G>A | CA6152688 | CPT1A | c.420C>T (p.His140=) c.516C>T (p.His172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68807500G>C | CA381636610 | CPT1A | c.420C>G (p.His140Gln) c.516C>G (p.His172Gln) | |
| 11 | g.68807500G>T | CA381636611 | CPT1A | c.420C>A (p.His140Gln) c.516C>A (p.His172Gln) | |
| 11 | g.68807501T>A | CA381636614 | CPT1A | c.419A>T (p.His140Leu) c.515A>T (p.His172Leu) | |
| 11 | g.68807501T>C | CA381636612 | CPT1A | c.419A>G (p.His140Arg) c.515A>G (p.His172Arg) | dbSNP gnomAD v4 |
| 11 | g.68807501T>G | CA381636613 | CPT1A | c.419A>C (p.His140Pro) c.515A>C (p.His172Pro) | |
| 11 | g.68807502G>A | CA381636615 | CPT1A | c.418C>T (p.His140Tyr) c.514C>T (p.His172Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807502G>C | CA381636616 | CPT1A | c.418C>G (p.His140Asp) c.514C>G (p.His172Asp) | |
| 11 | g.68807502G>T | CA381636617 | CPT1A | c.418C>A (p.His140Asn) c.514C>A (p.His172Asn) | |
| 11 | g.68807503C>A | CA381636618 | CPT1A | c.417G>T (p.Glu139Asp) c.513G>T (p.Glu171Asp) | |
| 11 | g.68807503C>G | CA6152689 | CPT1A | c.417G>C (p.Glu139Asp) c.513G>C (p.Glu171Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807503C>T | CA475207260 | CPT1A | c.417G>A (p.Glu139=) c.513G>A (p.Glu171=) | |
| 11 | g.68807503_68807504insCACCAAGA | CA2580084755 | CPT1A | c.416_417insTCTTGGTG (p.Glu139AspfsTer8) c.512_513insTCTTGGTG (p.Glu171AspfsTer8) | ClinVar |
| 11 | g.68807504T>A | CA381636619 | CPT1A | c.416A>T (p.Glu139Val) c.512A>T (p.Glu171Val) | |
| 11 | g.68807504T>C | CA381636620 | CPT1A | c.416A>G (p.Glu139Gly) c.512A>G (p.Glu171Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68807504T>G | CA381636621 | CPT1A | c.416A>C (p.Glu139Ala) c.512A>C (p.Glu171Ala) | |
| 11 | g.68807505C>A | CA381636622 | CPT1A | c.415G>T (p.Glu139Ter) c.511G>T (p.Glu171Ter) | |
| 11 | g.68807505C>G | CA381636623 | CPT1A | c.415G>C (p.Glu139Gln) c.511G>C (p.Glu171Gln) | |
| 11 | g.68807505C>T | CA381636624 | CPT1A | c.415G>A (p.Glu139Lys) c.511G>A (p.Glu171Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68807506A>C | CA475207261 | CPT1A | c.414T>G (p.Thr138=) c.510T>G (p.Thr170=) | |
| 11 | g.68807506A>G | CA475207262 | CPT1A | c.414T>C (p.Thr138=) c.510T>C (p.Thr170=) | |
| 11 | g.68807506A>T | CA475207263 | CPT1A | c.414T>A (p.Thr138=) c.510T>A (p.Thr170=) | |
| 11 | g.68807507G>A | CA381636627 | CPT1A | c.413C>T (p.Thr138Ile) c.509C>T (p.Thr170Ile) | |
| 11 | g.68807507G>C | CA381636626 | CPT1A | c.413C>G (p.Thr138Ser) c.509C>G (p.Thr170Ser) | |
| 11 | g.68807507G>T | CA381636625 | CPT1A | c.413C>A (p.Thr138Asn) c.509C>A (p.Thr170Asn) | |
| 11 | g.68807508T>A | CA381636628 | CPT1A | c.412A>T (p.Thr138Ser) c.508A>T (p.Thr170Ser) | |
| 11 | g.68807508T>C | CA381636629 | CPT1A | c.412A>G (p.Thr138Ala) c.508A>G (p.Thr170Ala) | gnomAD v4 |
| 11 | g.68807508T>G | CA381636630 | CPT1A | c.412A>C (p.Thr138Pro) c.508A>C (p.Thr170Pro) | |
| 11 | g.68807509G>A | CA475207264 | CPT1A | c.411C>T (p.Phe137=) c.507C>T (p.Phe169=) | gnomAD v4 |
| 11 | g.68807509G>C | CA381636631 | CPT1A | c.411C>G (p.Phe137Leu) c.507C>G (p.Phe169Leu) | |
| 11 | g.68807509G>T | CA381636632 | CPT1A | c.411C>A (p.Phe137Leu) c.507C>A (p.Phe169Leu) | |
| 11 | g.68807510A>C | CA381636635 | CPT1A | c.410T>G (p.Phe137Cys) c.506T>G (p.Phe169Cys) | |
| 11 | g.68807510A>G | CA381636634 | CPT1A | c.410T>C (p.Phe137Ser) c.506T>C (p.Phe169Ser) | |
| 11 | g.68807510A>T | CA381636633 | CPT1A | c.410T>A (p.Phe137Tyr) c.506T>A (p.Phe169Tyr) | |
| 11 | g.68807511dup | CA2842790234 | CPT1A | c.410dup (p.Thr138HisfsTer2) c.506dup (p.Thr170HisfsTer2) | |
| 11 | g.68807511A>C | CA381636636 | CPT1A | c.409T>G (p.Phe137Val) c.505T>G (p.Phe169Val) | |
| 11 | g.68807511A>G | CA381636637 | CPT1A | c.409T>C (p.Phe137Leu) c.505T>C (p.Phe169Leu) | |
| 11 | g.68807511A>T | CA381636638 | CPT1A | c.409T>A (p.Phe137Ile) c.505T>A (p.Phe169Ile) | |
| 11 | g.68807512C>A | CA381636639 | CPT1A | c.408G>T (p.Met136Ile) c.504G>T (p.Met168Ile) | gnomAD v4 |
| 11 | g.68807512C>G | CA381636640 | CPT1A | c.408G>C (p.Met136Ile) c.504G>C (p.Met168Ile) | |
| 11 | g.68807512C>T | CA223396287 | CPT1A | c.408G>A (p.Met136Ile) c.504G>A (p.Met168Ile) | dbSNP gnomAD v4 |
| 11 | g.68807514_68807517dup | CA2792553725 | CPT1A | c.405_408dup (p.Phe137AspfsTer4) c.501_504dup (p.Phe169AspfsTer4) | |
| 11 | g.68807513A>C | CA381636641 | CPT1A | c.407T>G (p.Met136Arg) c.503T>G (p.Met168Arg) | |
| 11 | g.68807513A>G | CA381636643 | CPT1A | c.407T>C (p.Met136Thr) c.503T>C (p.Met168Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807513A>T | CA381636642 | CPT1A | c.407T>A (p.Met136Lys) c.503T>A (p.Met168Lys) | |
| 11 | g.68807514T>A | CA381636644 | CPT1A | c.406A>T (p.Met136Leu) c.502A>T (p.Met168Leu) | |
| 11 | g.68807514T>C | CA381636645 | CPT1A | c.406A>G (p.Met136Val) c.502A>G (p.Met168Val) | |
| 11 | g.68807514T>G | CA381636646 | CPT1A | c.406A>C (p.Met136Leu) c.502A>C (p.Met168Leu) | dbSNP |
| 11 | g.68807515C>A | CA381636647 | CPT1A | c.405G>T (p.Trp135Cys) c.501G>T (p.Trp167Cys) | |
| 11 | g.68807515C>G | CA381636648 | CPT1A | c.405G>C (p.Trp135Cys) c.501G>C (p.Trp167Cys) | |
| 11 | g.68807515C>T | CA6152690 | CPT1A | c.405G>A (p.Trp135Ter) c.501G>A (p.Trp167Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68807516C>A | CA381636649 | CPT1A | c.404G>T (p.Trp135Leu) c.404G>T c.500G>T (p.Trp167Leu) | |
| 11 | g.68807516C>G | CA381636650 | CPT1A | c.404G>C (p.Trp135Ser) c.404G>C c.500G>C (p.Trp167Ser) | |
| 11 | g.68807516C>T | CA381636651 | CPT1A | c.404G>A (p.Trp135Ter) c.404G>A c.500G>A (p.Trp167Ter) | |
| 11 | g.68807517A>C | CA381636652 | CPT1A | c.403T>G (p.Trp135Gly) c.403T>G c.499T>G (p.Trp167Gly) | |
| 11 | g.68807517A>G | CA381636653 | CPT1A | c.403T>C (p.Trp135Arg) c.403T>C c.499T>C (p.Trp167Arg) | |
| 11 | g.68807517A>T | CA381636654 | CPT1A | c.403T>A (p.Trp135Arg) c.403T>A c.499T>A (p.Trp167Arg) | |
| 11 | g.68807518C>A | CA475207265 | CPT1A | c.402G>T (p.Gly134=) c.498G>T (p.Gly166=) | |
| 11 | g.68807518C>G | CA475207266 | CPT1A | c.402G>C (p.Gly134=) c.498G>C (p.Gly166=) | |
| 11 | g.68807518C>T | CA475207267 | CPT1A | c.402G>A (p.Gly134=) c.498G>A (p.Gly166=) | dbSNP |
| 11 | g.68807519C>A | CA223396298 | CPT1A | c.401G>T (p.Gly134Val) c.497G>T (p.Gly166Val) | dbSNP |
| 11 | g.68807519C>G | CA381636656 | CPT1A | c.401G>C (p.Gly134Ala) c.497G>C (p.Gly166Ala) | |
| 11 | g.68807519C>T | CA381636655 | CPT1A | c.401G>A (p.Gly134Glu) c.497G>A (p.Gly166Glu) | |
| 11 | g.68807520C>A | CA6152691 | CPT1A | c.400G>T (p.Gly134Trp) c.496G>T (p.Gly166Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68807520C>G | CA381636657 | CPT1A | c.400G>C (p.Gly134Arg) c.496G>C (p.Gly166Arg) | |
| 11 | g.68807520C>T | CA6152692 | CPT1A | c.400G>A (p.Gly134Arg) c.496G>A (p.Gly166Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807521G>A | CA6152693 | CPT1A | c.399C>T (p.His133=) c.495C>T (p.His165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807521G>C | CA381636658 | CPT1A | c.399C>G (p.His133Gln) c.495C>G (p.His165Gln) | |
| 11 | g.68807521G>T | CA381636659 | CPT1A | c.399C>A (p.His133Gln) c.495C>A (p.His165Gln) | |
| 11 | g.68807522T>A | CA381636660 | CPT1A | c.398A>T (p.His133Leu) c.494A>T (p.His165Leu) | |
| 11 | g.68807522T>C | CA381636661 | CPT1A | c.398A>G (p.His133Arg) c.494A>G (p.His165Arg) | |
| 11 | g.68807522T>G | CA381636662 | CPT1A | c.398A>C (p.His133Pro) c.494A>C (p.His165Pro) | ClinVar dbSNP |
| 11 | g.68807523G>A | CA381636665 | CPT1A | c.397C>T (p.His133Tyr) c.493C>T (p.His165Tyr) | |
| 11 | g.68807523G>C | CA381636663 | CPT1A | c.397C>G (p.His133Asp) c.493C>G (p.His165Asp) | |
| 11 | g.68807523G>T | CA381636664 | CPT1A | c.397C>A (p.His133Asn) c.493C>A (p.His165Asn) | |
| 11 | g.68807524G>A | CA475207269 | CPT1A | c.396C>T (p.Tyr132=) c.492C>T (p.Tyr164=) | gnomAD v4 |
| 11 | g.68807524G>C | CA381636666 | CPT1A | c.396C>G (p.Tyr132Ter) c.492C>G (p.Tyr164Ter) | |
| 11 | g.68807524G>T | CA381636667 | CPT1A | c.396C>A (p.Tyr132Ter) c.492C>A (p.Tyr164Ter) | |
| 11 | g.68807525T>A | CA381636668 | CPT1A | c.395A>T (p.Tyr132Phe) c.491A>T (p.Tyr164Phe) | |
| 11 | g.68807525T>C | CA381636669 | CPT1A | c.395A>G (p.Tyr132Cys) c.491A>G (p.Tyr164Cys) | |
| 11 | g.68807525T>G | CA381636670 | CPT1A | c.395A>C (p.Tyr132Ser) c.491A>C (p.Tyr164Ser) | |
| 11 | g.68807526A>C | CA381636671 | CPT1A | c.394T>G (p.Tyr132Asp) c.490T>G (p.Tyr164Asp) | |
| 11 | g.68807526A>G | CA381636673 | CPT1A | c.394T>C (p.Tyr132His) c.490T>C (p.Tyr164His) | gnomAD v4 |
| 11 | g.68807526A>T | CA381636672 | CPT1A | c.394T>A (p.Tyr132Asn) c.490T>A (p.Tyr164Asn) | |
| 11 | g.68807527G>A | CA475207270 | CPT1A | c.393C>T (p.Ser131=) c.489C>T (p.Ser163=) | |
| 11 | g.68807527G>C | CA475207271 | CPT1A | c.393C>G (p.Ser131=) c.489C>G (p.Ser163=) | |
| 11 | g.68807527G>T | CA475207272 | CPT1A | c.393C>A (p.Ser131=) c.489C>A (p.Ser163=) | |
| 11 | g.68807528G>A | CA381636674 | CPT1A | c.392C>T (p.Ser131Phe) c.488C>T (p.Ser163Phe) | |
| 11 | g.68807528G>C | CA381636675 | CPT1A | c.392C>G (p.Ser131Cys) c.488C>G (p.Ser163Cys) | |
| 11 | g.68807528G>T | CA381636676 | CPT1A | c.392C>A (p.Ser131Tyr) c.488C>A (p.Ser163Tyr) | |
| 11 | g.68807529A>C | CA381636677 | CPT1A | c.391T>G (p.Ser131Ala) c.487T>G (p.Ser163Ala) | |
| 11 | g.68807529A>G | CA381636678 | CPT1A | c.391T>C (p.Ser131Pro) c.487T>C (p.Ser163Pro) | |
| 11 | g.68807529A>T | CA381636679 | CPT1A | c.391T>A (p.Ser131Thr) c.487T>A (p.Ser163Thr) | |
| 11 | g.68807530G>A | CA6152694 | CPT1A | c.390C>T (p.Leu130=) c.486C>T (p.Leu162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807530G>C | CA475207273 | CPT1A | c.390C>G (p.Leu130=) c.486C>G (p.Leu162=) | gnomAD v4 |
| 11 | g.68807530G>T | CA475207274 | CPT1A | c.390C>A (p.Leu130=) c.486C>A (p.Leu162=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68807531A>C | CA381636680 | CPT1A | c.389T>G (p.Leu130Arg) c.485T>G (p.Leu162Arg) | |
| 11 | g.68807531A>G | CA381636681 | CPT1A | c.389T>C (p.Leu130Pro) c.485T>C (p.Leu162Pro) | |
| 11 | g.68807531A>T | CA381636682 | CPT1A | c.389T>A (p.Leu130His) c.485T>A (p.Leu162His) | |
| 11 | g.68807532G>A | CA381636685 | CPT1A | c.388C>T (p.Leu130Phe) c.484C>T (p.Leu162Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807532G>C | CA381636684 | CPT1A | c.388C>G (p.Leu130Val) c.484C>G (p.Leu162Val) | |
| 11 | g.68807532G>T | CA381636683 | CPT1A | c.388C>A (p.Leu130Ile) c.484C>A (p.Leu162Ile) | |
| 11 | g.68807533C>A | CA475207276 | CPT1A | c.387G>T (p.Leu129=) c.483G>T (p.Leu161=) | |
| 11 | g.68807533C>G | CA475207275 | CPT1A | c.387G>C (p.Leu129=) c.483G>C (p.Leu161=) | |
| 11 | g.68807533C>T | CA6152695 | CPT1A | c.387G>A (p.Leu129=) c.483G>A (p.Leu161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807534A>C | CA381636686 | CPT1A | c.386T>G (p.Leu129Arg) c.482T>G (p.Leu161Arg) | |
| 11 | g.68807534A>G | CA381636687 | CPT1A | c.386T>C (p.Leu129Pro) c.482T>C (p.Leu161Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68807534A>T | CA381636688 | CPT1A | c.386T>A (p.Leu129Gln) c.482T>A (p.Leu161Gln) | |
| 11 | g.68807535G>A | CA475207277 | CPT1A | c.385C>T (p.Leu129=) c.481C>T (p.Leu161=) | gnomAD v4 |
| 11 | g.68807535G>C | CA381636689 | CPT1A | c.385C>G (p.Leu129Val) c.481C>G (p.Leu161Val) | |
| 11 | g.68807535G>T | CA381636690 | CPT1A | c.385C>A (p.Leu129Met) c.481C>A (p.Leu161Met) | |
| 11 | g.68807536C>A | CA475207278 | CPT1A | c.384G>T (p.Val128=) c.480G>T (p.Val160=) | |
| 11 | g.68807536C>G | CA475207279 | CPT1A | c.384G>C (p.Val128=) c.480G>C (p.Val160=) | |
| 11 | g.68807536C>T | CA475207280 | CPT1A | c.384G>A (p.Val128=) c.480G>A (p.Val160=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68807537A>C | CA381636693 | CPT1A | c.383T>G (p.Val128Gly) c.479T>G (p.Val160Gly) | |
| 11 | g.68807537A>G | CA381636691 | CPT1A | c.383T>C (p.Val128Ala) c.479T>C (p.Val160Ala) | |
| 11 | g.68807537A>T | CA381636692 | CPT1A | c.383T>A (p.Val128Glu) c.479T>A (p.Val160Glu) | dbSNP |
| 11 | g.68807538C>A | CA381636694 | CPT1A | c.382G>T (p.Val128Leu) c.478G>T (p.Val160Leu) | |
| 11 | g.68807538C>G | CA381636695 | CPT1A | c.382G>C (p.Val128Leu) c.478G>C (p.Val160Leu) | |
| 11 | g.68807538C>T | CA381636696 | CPT1A | c.382G>A (p.Val128Met) c.478G>A (p.Val160Met) | dbSNP |
| 11 | g.68807539T>A | CA381636697 | CPT1A | c.381A>T (p.Lys127Asn) c.477A>T (p.Lys159Asn) | |
| 11 | g.68807539T>C | CA475207281 | CPT1A | c.381A>G (p.Lys127=) c.477A>G (p.Lys159=) | |
| 11 | g.68807539T>G | CA381636698 | CPT1A | c.381A>C (p.Lys127Asn) c.477A>C (p.Lys159Asn) | |
| 11 | g.68807540T>A | CA381636699 | CPT1A | c.380A>T (p.Lys127Ile) c.476A>T (p.Lys159Ile) | |
| 11 | g.68807540T>C | CA381636701 | CPT1A | c.380A>G (p.Lys127Arg) c.476A>G (p.Lys159Arg) | |
| 11 | g.68807540T>G | CA381636700 | CPT1A | c.380A>C (p.Lys127Thr) c.476A>C (p.Lys159Thr) | |
| 11 | g.68807541T>A | CA381636702 | CPT1A | c.379A>T (p.Lys127Ter) c.475A>T (p.Lys159Ter) | |
| 11 | g.68807541T>C | CA381636703 | CPT1A | c.379A>G (p.Lys127Glu) c.475A>G (p.Lys159Glu) | |
| 11 | g.68807541T>G | CA223396334 | CPT1A | c.379A>C (p.Lys127Gln) c.475A>C (p.Lys159Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68807542C>A | CA475207282 | CPT1A | c.378G>T (p.Leu126=) c.474G>T (p.Leu158=) | |
| 11 | g.68807542C>G | CA475207283 | CPT1A | c.378G>C (p.Leu126=) c.474G>C (p.Leu158=) | |
| 11 | g.68807542C>T | CA475207284 | CPT1A | c.378G>A (p.Leu126=) c.474G>A (p.Leu158=) | |
| 11 | g.68807542dup | CA2839538383 | CPT1A | c.378dup (p.Lys127GlufsTer13) c.378dup (p.Lys127GlufsTer?) c.474dup (p.Lys159GlufsTer13) | |
| 11 | g.68807543A>C | CA381636704 | CPT1A | c.377T>G (p.Leu126Arg) c.473T>G (p.Leu158Arg) | |
| 11 | g.68807543A>G | CA381636705 | CPT1A | c.377T>C (p.Leu126Pro) c.473T>C (p.Leu158Pro) | |
| 11 | g.68807543A>T | CA381636706 | CPT1A | c.377T>A (p.Leu126Gln) c.473T>A (p.Leu158Gln) | |
| 11 | g.68807544G>A | CA475207285 | CPT1A | c.376C>T (p.Leu126=) c.472C>T (p.Leu158=) | |
| 11 | g.68807544G>C | CA381636707 | CPT1A | c.376C>G (p.Leu126Val) c.472C>G (p.Leu158Val) | |
| 11 | g.68807544G>T | CA381636708 | CPT1A | c.376C>A (p.Leu126Met) c.472C>A (p.Leu158Met) | |
| 11 | g.68807545G>A | CA475207286 | CPT1A | c.375C>T (p.Ser125=) c.471C>T (p.Ser157=) | dbSNP |
| 11 | g.68807545G>C | CA475207287 | CPT1A | c.375C>G (p.Ser125=) c.471C>G (p.Ser157=) | |
| 11 | g.68807545G>T | CA475207288 | CPT1A | c.375C>A (p.Ser125=) c.471C>A (p.Ser157=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68807546G>A | CA6152696 | CPT1A | c.374C>T (p.Ser125Phe) c.470C>T (p.Ser157Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68807546G>C | CA381636709 | CPT1A | c.374C>G (p.Ser125Cys) c.470C>G (p.Ser157Cys) | |
| 11 | g.68807546G>T | CA381636710 | CPT1A | c.374C>A (p.Ser125Tyr) c.470C>A (p.Ser157Tyr) | |
| 11 | g.68807547A>C | CA381636713 | CPT1A | c.373T>G (p.Ser125Ala) c.469T>G (p.Ser157Ala) | |
| 11 | g.68807547A>G | CA381636712 | CPT1A | c.373T>C (p.Ser125Pro) c.469T>C (p.Ser157Pro) | |
| 11 | g.68807547A>T | CA381636711 | CPT1A | c.373T>A (p.Ser125Thr) c.469T>A (p.Ser157Thr) | |
| 11 | g.68807548G>A | CA475207289 | CPT1A | c.372C>T (p.Tyr124=) c.468C>T (p.Tyr156=) | gnomAD v4 |
| 11 | g.68807548G>C | CA381636715 | CPT1A | c.372C>G (p.Tyr124Ter) c.468C>G (p.Tyr156Ter) | |
| 11 | g.68807548G>T | CA381636714 | CPT1A | c.372C>A (p.Tyr124Ter) c.468C>A (p.Tyr156Ter) | |
| 11 | g.68807549T>A | CA381636718 | CPT1A | c.371A>T (p.Tyr124Phe) c.467A>T (p.Tyr156Phe) | |
| 11 | g.68807549T>C | CA381636716 | CPT1A | c.371A>G (p.Tyr124Cys) c.467A>G (p.Tyr156Cys) | gnomAD v4 |
| 11 | g.68807549T>G | CA381636717 | CPT1A | c.371A>C (p.Tyr124Ser) c.467A>C (p.Tyr156Ser) | |
| 11 | g.68807550A>C | CA381636719 | CPT1A | c.370T>G (p.Tyr124Asp) c.466T>G (p.Tyr156Asp) | gnomAD v4 |
| 11 | g.68807550A>G | CA6152697 | CPT1A | c.370T>C (p.Tyr124His) c.466T>C (p.Tyr156His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807550A>T | CA381636720 | CPT1A | c.370T>A (p.Tyr124Asn) c.466T>A (p.Tyr156Asn) | |
| 11 | g.68807551G>A | CA475207290 | CPT1A | c.369C>T (p.Arg123=) c.465C>T (p.Arg155=) | |
| 11 | g.68807551G>C | CA475207291 | CPT1A | c.369C>G (p.Arg123=) c.465C>G (p.Arg155=) | |
| 11 | g.68807551G>T | CA475207292 | CPT1A | c.369C>A (p.Arg123=) c.465C>A (p.Arg155=) | |
| 11 | g.68807552C>A | CA381636723 | CPT1A | c.368G>T (p.Arg123Leu) c.464G>T (p.Arg155Leu) | |
| 11 | g.68807552C>G | CA381636722 | CPT1A | c.368G>C (p.Arg123Pro) c.464G>C (p.Arg155Pro) | |
| 11 | g.68807552C>T | CA381636721 | CPT1A | c.368G>A (p.Arg123His) c.464G>A (p.Arg155His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807553G>A | CA221862 | CPT1A | c.367C>T (p.Arg123Cys) c.463C>T (p.Arg155Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68807553G>C | CA381636724 | CPT1A | c.367C>G (p.Arg123Gly) c.463C>G (p.Arg155Gly) | |
| 11 | g.68807553G>T | CA381636725 | CPT1A | c.367C>A (p.Arg123Ser) c.463C>A (p.Arg155Ser) | |
| 11 | g.68807554C>A | CA381636726 | CPT1A | c.366G>T (p.Met122Ile) c.462G>T (p.Met154Ile) | |
| 11 | g.68807554C>G | CA381636727 | CPT1A | c.366G>C (p.Met122Ile) c.462G>C (p.Met154Ile) | |
| 11 | g.68807554C>T | CA381636728 | CPT1A | c.366G>A (p.Met122Ile) c.462G>A (p.Met154Ile) | dbSNP |
| 11 | g.68807555A>C | CA381636729 | CPT1A | c.365T>G (p.Met122Arg) c.461T>G (p.Met154Arg) | |
| 11 | g.68807555A>G | CA381636731 | CPT1A | c.365T>C (p.Met122Thr) c.461T>C (p.Met154Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807555A>T | CA381636730 | CPT1A | c.365T>A (p.Met122Lys) c.461T>A (p.Met154Lys) | |
| 11 | g.68807556T>A | CA381636732 | CPT1A | c.364A>T (p.Met122Leu) c.460A>T (p.Met154Leu) | |
| 11 | g.68807556T>C | CA381636733 | CPT1A | c.364A>G (p.Met122Val) c.460A>G (p.Met154Val) | |
| 11 | g.68807556T>G | CA381636734 | CPT1A | c.364A>C (p.Met122Leu) c.460A>C (p.Met154Leu) | |
| 11 | g.68807557G>A | CA475207293 | CPT1A | c.363C>T (p.Thr121=) c.459C>T (p.Thr153=) | |
| 11 | g.68807557G>C | CA475207294 | CPT1A | c.363C>G (p.Thr121=) c.459C>G (p.Thr153=) | |
| 11 | g.68807557G>T | CA475207295 | CPT1A | c.363C>A (p.Thr121=) c.459C>A (p.Thr153=) | |
| 11 | g.68807558G>A | CA381636735 | CPT1A | c.362C>T (p.Thr121Ile) c.458C>T (p.Thr153Ile) | |
| 11 | g.68807558G>C | CA381636736 | CPT1A | c.362C>G (p.Thr121Ser) c.458C>G (p.Thr153Ser) | |
| 11 | g.68807558G>T | CA381636737 | CPT1A | c.362C>A (p.Thr121Asn) c.458C>A (p.Thr153Asn) | dbSNP |
| 11 | g.68807559T>A | CA381636738 | CPT1A | c.361A>T (p.Thr121Ser) c.457A>T (p.Thr153Ser) | |
| 11 | g.68807559T>C | CA381636739 | CPT1A | c.361A>G (p.Thr121Ala) c.457A>G (p.Thr153Ala) | |
| 11 | g.68807559T>G | CA381636740 | CPT1A | c.361A>C (p.Thr121Pro) c.457A>C (p.Thr153Pro) | |
| 11 | g.68807560G>A | CA6152698 | CPT1A | c.360C>T (p.Val120=) c.456C>T (p.Val152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807560G>C | CA475207297 | CPT1A | c.360C>G (p.Val120=) c.456C>G (p.Val152=) | |
| 11 | g.68807560G>T | CA475207298 | CPT1A | c.360C>A (p.Val120=) c.456C>A (p.Val152=) | |
| 11 | g.68807561A>C | CA381636743 | CPT1A | c.359T>G (p.Val120Gly) c.455T>G (p.Val152Gly) | |
| 11 | g.68807561A>G | CA381636742 | CPT1A | c.359T>C (p.Val120Ala) c.455T>C (p.Val152Ala) | gnomAD v4 |
| 11 | g.68807561A>T | CA381636741 | CPT1A | c.359T>A (p.Val120Asp) c.455T>A (p.Val152Asp) | |
| 11 | g.68807562C>A | CA381636744 | CPT1A | c.358G>T (p.Val120Phe) c.454G>T (p.Val152Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807562C>G | CA381636745 | CPT1A | c.358G>C (p.Val120Leu) c.454G>C (p.Val152Leu) | |
| 11 | g.68807562C>T | CA6152699 | CPT1A | c.358G>A (p.Val120Ile) c.454G>A (p.Val152Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807563G>A | CA6152700 | CPT1A | c.357C>T (p.Ile119=) c.453C>T (p.Ile151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807563G>C | CA381636746 | CPT1A | c.357C>G (p.Ile119Met) c.453C>G (p.Ile151Met) | |
| 11 | g.68807563G>T | CA475207299 | CPT1A | c.357C>A (p.Ile119=) c.453C>A (p.Ile151=) | |
| 11 | g.68807565_68807566insAAGAT | CA2580084759 | CPT1A | c.357_358insTTATC (p.Val120LeufsTer9) c.453_454insTTATC (p.Val152LeufsTer9) | ClinVar |
| 11 | g.68807564A>C | CA381636749 | CPT1A | c.356T>G (p.Ile119Ser) c.452T>G (p.Ile151Ser) | |
| 11 | g.68807564A>G | CA381636748 | CPT1A | c.356T>C (p.Ile119Thr) c.452T>C (p.Ile151Thr) | |
| 11 | g.68807564A>T | CA381636747 | CPT1A | c.356T>A (p.Ile119Asn) c.452T>A (p.Ile151Asn) | |
| 11 | g.68807565T>A | CA381636750 | CPT1A | c.355A>T (p.Ile119Phe) c.451A>T (p.Ile151Phe) | |
| 11 | g.68807565T>C | CA381636751 | CPT1A | c.355A>G (p.Ile119Val) c.451A>G (p.Ile151Val) | |
| 11 | g.68807565T>G | CA381636752 | CPT1A | c.355A>C (p.Ile119Leu) c.451A>C (p.Ile151Leu) | |
| 11 | g.68807566G>A | CA475207300 | CPT1A | c.354C>T (p.Leu118=) c.450C>T (p.Leu150=) | |
| 11 | g.68807566G>C | CA475207301 | CPT1A | c.354C>G (p.Leu118=) c.450C>G (p.Leu150=) | |
| 11 | g.68807566G>T | CA475207302 | CPT1A | c.354C>A (p.Leu118=) c.450C>A (p.Leu150=) | |
| 11 | g.68807567A>C | CA381636753 | CPT1A | c.353T>G (p.Leu118Arg) c.353T>G c.449T>G (p.Leu150Arg) | |
| 11 | g.68807567A>G | CA381636754 | CPT1A | c.353T>C (p.Leu118Pro) c.353T>C c.449T>C (p.Leu150Pro) | |
| 11 | g.68807567A>T | CA381636755 | CPT1A | c.353T>A (p.Leu118His) c.353T>A c.449T>A (p.Leu150His) | |
| 11 | g.68807568G>A | CA381636756 | CPT1A | c.352C>T (p.Leu118Phe) c.352C>T c.448C>T (p.Leu150Phe) | |
| 11 | g.68807568G>C | CA381636758 | CPT1A | c.352C>G (p.Leu118Val) c.352C>G c.448C>G (p.Leu150Val) | gnomAD v4 |
| 11 | g.68807568G>T | CA381636757 | CPT1A | c.352C>A (p.Leu118Ile) c.352C>A c.448C>A (p.Leu150Ile) | |
| 11 | g.68807569G>A | CA475207303 | CPT1A | c.351C>T (p.Ala117=) c.447C>T (p.Ala149=) | |
| 11 | g.68807569G>C | CA475207304 | CPT1A | c.351C>G (p.Ala117=) c.447C>G (p.Ala149=) | |
| 11 | g.68807569G>T | CA475207305 | CPT1A | c.351C>A (p.Ala117=) c.447C>A (p.Ala149=) | |
| 11 | g.68807570G>A | CA381636759 | CPT1A | c.350C>T (p.Ala117Val) c.446C>T (p.Ala149Val) | |
| 11 | g.68807570G>C | CA381636760 | CPT1A | c.350C>G (p.Ala117Gly) c.446C>G (p.Ala149Gly) | gnomAD v4 |
| 11 | g.68807570G>T | CA381636761 | CPT1A | c.350C>A (p.Ala117Asp) c.446C>A (p.Ala149Asp) | |
| 11 | g.68807571C>A | CA381636762 | CPT1A | c.349G>T (p.Ala117Ser) c.445G>T (p.Ala149Ser) | |
| 11 | g.68807571C>G | CA381636763 | CPT1A | c.349G>C (p.Ala117Pro) c.445G>C (p.Ala149Pro) | |
| 11 | g.68807571C>T | CA381636764 | CPT1A | c.349G>A (p.Ala117Thr) c.445G>A (p.Ala149Thr) | |
| 11 | g.68807572C>A | CA475207306 | CPT1A | c.348G>T (p.Val116=) c.444G>T (p.Val148=) | |
| 11 | g.68807572C>G | CA475207307 | CPT1A | c.348G>C (p.Val116=) c.444G>C (p.Val148=) | |
| 11 | g.68807572C>T | CA475207308 | CPT1A | c.348G>A (p.Val116=) c.444G>A (p.Val148=) | |
| 11 | g.68807573del | CA2532315977 | CPT1A | c.347del (p.Val116GlyfsTer11) c.347del (p.Val116GlyfsTer?) c.443del (p.Val148GlyfsTer11) | |
| 11 | g.68807573A>C | CA381636765 | CPT1A | c.347T>G (p.Val116Gly) c.443T>G (p.Val148Gly) | dbSNP |
| 11 | g.68807573A>G | CA381636766 | CPT1A | c.347T>C (p.Val116Ala) c.443T>C (p.Val148Ala) | |
| 11 | g.68807573A>T | CA381636767 | CPT1A | c.347T>A (p.Val116Glu) c.443T>A (p.Val148Glu) |