UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68804002T>A | CA381635946 | CPT1A | c.553A>T (p.Arg185Trp) c.649A>T (p.Arg217Trp) | |
| 11 | g.68804002T>C | CA381635947 | CPT1A | c.553A>G (p.Arg185Gly) c.649A>G (p.Arg217Gly) | dbSNP |
| 11 | g.68804002T>G | CA475205348 | CPT1A | c.553A>C (p.Arg185=) c.649A>C (p.Arg217=) | ClinVar |
| 11 | g.68804003G>A | CA475205349 | CPT1A | c.552C>T (p.Asn184=) c.648C>T (p.Asn216=) | gnomAD v4 |
| 11 | g.68804003G>C | CA381635949 | CPT1A | c.552C>G (p.Asn184Lys) c.648C>G (p.Asn216Lys) | |
| 11 | g.68804003G>T | CA381635948 | CPT1A | c.552C>A (p.Asn184Lys) c.648C>A (p.Asn216Lys) | |
| 11 | g.68804004T>A | CA381635950 | CPT1A | c.551A>T (p.Asn184Ile) c.647A>T (p.Asn216Ile) | |
| 11 | g.68804004T>C | CA381635951 | CPT1A | c.551A>G (p.Asn184Ser) c.647A>G (p.Asn216Ser) | |
| 11 | g.68804004T>G | CA381635952 | CPT1A | c.551A>C (p.Asn184Thr) c.647A>C (p.Asn216Thr) | |
| 11 | g.68804005T>A | CA381635953 | CPT1A | c.550A>T (p.Asn184Tyr) c.646A>T (p.Asn216Tyr) | |
| 11 | g.68804005T>C | CA381635954 | CPT1A | c.550A>G (p.Asn184Asp) c.646A>G (p.Asn216Asp) | |
| 11 | g.68804005T>G | CA381635955 | CPT1A | c.550A>C (p.Asn184His) c.646A>C (p.Asn216His) | |
| 11 | g.68804006C>A | CA475205351 | CPT1A | c.549G>T (p.Val183=) c.645G>T (p.Val215=) | |
| 11 | g.68804006C>G | CA475205350 | CPT1A | c.549G>C (p.Val183=) c.645G>C (p.Val215=) | |
| 11 | g.68804006C>T | CA475205352 | CPT1A | c.549G>A (p.Val183=) c.645G>A (p.Val215=) | |
| 11 | g.68804008_68804009del | CA10603989 | CPT1A | c.548_549del (p.Val183GlufsTer?) c.644_645del (p.Val215GlufsTer?) | ClinVar dbSNP |
| 11 | g.68804007A>C | CA381635956 | CPT1A | c.548T>G (p.Val183Gly) c.644T>G (p.Val215Gly) | |
| 11 | g.68804007A>G | CA381635957 | CPT1A | c.548T>C (p.Val183Ala) c.644T>C (p.Val215Ala) | |
| 11 | g.68804007A>T | CA381635958 | CPT1A | c.548T>A (p.Val183Glu) c.644T>A (p.Val215Glu) | |
| 11 | g.68804008C>A | CA381635959 | CPT1A | c.547G>T (p.Val183Leu) c.643G>T (p.Val215Leu) | |
| 11 | g.68804008C>G | CA381635960 | CPT1A | c.547G>C (p.Val183Leu) c.643G>C (p.Val215Leu) | |
| 11 | g.68804008C>T | CA381635961 | CPT1A | c.547G>A (p.Val183Met) c.643G>A (p.Val215Met) | gnomAD v4 |
| 11 | g.68804009A>C | CA475205354 | CPT1A | c.546T>G (p.Thr182=) c.642T>G (p.Thr214=) | |
| 11 | g.68804009A>G | CA475205355 | CPT1A | c.546T>C (p.Thr182=) c.642T>C (p.Thr214=) | gnomAD v4 |
| 11 | g.68804009A>T | CA475205356 | CPT1A | c.546T>A (p.Thr182=) c.642T>A (p.Thr214=) | |
| 11 | g.68804010G>A | CA381635962 | CPT1A | c.545C>T (p.Thr182Ile) c.641C>T (p.Thr214Ile) | |
| 11 | g.68804010G>C | CA381635964 | CPT1A | c.545C>G (p.Thr182Ser) c.641C>G (p.Thr214Ser) | |
| 11 | g.68804010G>T | CA381635963 | CPT1A | c.545C>A (p.Thr182Asn) c.641C>A (p.Thr214Asn) | |
| 11 | g.68804012_68804013del | CA2580615753 | CPT1A | c.544_545del (p.Thr182CysfsTer?) c.640_641del (p.Thr214CysfsTer?) | ClinVar dbSNP |
| 11 | g.68804011T>A | CA381635965 | CPT1A | c.544A>T (p.Thr182Ser) c.640A>T (p.Thr214Ser) | |
| 11 | g.68804011T>C | CA381635967 | CPT1A | c.544A>G (p.Thr182Ala) c.640A>G (p.Thr214Ala) | |
| 11 | g.68804011T>G | CA381635966 | CPT1A | c.544A>C (p.Thr182Pro) c.640A>C (p.Thr214Pro) | |
| 11 | g.68804012G>A | CA475205357 | CPT1A | c.543C>T (p.Asp181=) c.639C>T (p.Asp213=) | |
| 11 | g.68804012G>C | CA381635968 | CPT1A | c.543C>G (p.Asp181Glu) c.639C>G (p.Asp213Glu) | |
| 11 | g.68804012G>T | CA381635969 | CPT1A | c.543C>A (p.Asp181Glu) c.639C>A (p.Asp213Glu) | |
| 11 | g.68804013T>A | CA381635970 | CPT1A | c.542A>T (p.Asp181Val) c.638A>T (p.Asp213Val) | |
| 11 | g.68804013T>C | CA381635971 | CPT1A | c.542A>G (p.Asp181Gly) c.638A>G (p.Asp213Gly) | |
| 11 | g.68804013T>G | CA381635972 | CPT1A | c.542A>C (p.Asp181Ala) c.638A>C (p.Asp213Ala) | |
| 11 | g.68804014C>A | CA381635973 | CPT1A | c.541G>T (p.Asp181Tyr) c.637G>T (p.Asp213Tyr) | |
| 11 | g.68804014C>G | CA381635974 | CPT1A | c.541G>C (p.Asp181His) c.637G>C (p.Asp213His) | dbSNP |
| 11 | g.68804014C>T | CA381635975 | CPT1A | c.541G>A (p.Asp181Asn) c.637G>A (p.Asp213Asn) | gnomAD v4 |
| 11 | g.68804015T>A | CA381635976 | CPT1A | c.540A>T (p.Lys180Asn) c.636A>T (p.Lys212Asn) | |
| 11 | g.68804015T>C | CA475205358 | CPT1A | c.540A>G (p.Lys180=) c.636A>G (p.Lys212=) | |
| 11 | g.68804015T>G | CA381635977 | CPT1A | c.540A>C (p.Lys180Asn) c.636A>C (p.Lys212Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804016_68804017del | CA599991978 | CPT1A | c.539_540del (p.Lys180ArgfsTer?) c.635_636del (p.Lys212ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68804016T>A | CA381635980 | CPT1A | c.539A>T (p.Lys180Ile) c.635A>T (p.Lys212Ile) | |
| 11 | g.68804016T>C | CA381635979 | CPT1A | c.539A>G (p.Lys180Arg) c.635A>G (p.Lys212Arg) | |
| 11 | g.68804016T>G | CA381635978 | CPT1A | c.539A>C (p.Lys180Thr) c.635A>C (p.Lys212Thr) | |
| 11 | g.68804017T>A | CA381635981 | CPT1A | c.538A>T (p.Lys180Ter) c.634A>T (p.Lys212Ter) | |
| 11 | g.68804017T>C | CA381635982 | CPT1A | c.538A>G (p.Lys180Glu) c.634A>G (p.Lys212Glu) | |
| 11 | g.68804017T>G | CA381635983 | CPT1A | c.538A>C (p.Lys180Gln) c.634A>C (p.Lys212Gln) | |
| 11 | g.68804018G>A | CA475205359 | CPT1A | c.537C>T (p.Val179=) c.633C>T (p.Val211=) | |
| 11 | g.68804018G>C | CA475205360 | CPT1A | c.537C>G (p.Val179=) c.633C>G (p.Val211=) | COSMIC COSMIC |
| 11 | g.68804018G>T | CA475205361 | CPT1A | c.537C>A (p.Val179=) c.633C>A (p.Val211=) | |
| 11 | g.68804019A>C | CA381635984 | CPT1A | c.536T>G (p.Val179Gly) c.632T>G (p.Val211Gly) | |
| 11 | g.68804019A>G | CA381635985 | CPT1A | c.536T>C (p.Val179Ala) c.632T>C (p.Val211Ala) | gnomAD v4 |
| 11 | g.68804019A>T | CA381635986 | CPT1A | c.536T>A (p.Val179Asp) c.632T>A (p.Val211Asp) | |
| 11 | g.68804020C>A | CA381635987 | CPT1A | c.535G>T (p.Val179Phe) c.631G>T (p.Val211Phe) | |
| 11 | g.68804020C>G | CA381635988 | CPT1A | c.535G>C (p.Val179Leu) c.631G>C (p.Val211Leu) | |
| 11 | g.68804020C>T | CA6152632 | CPT1A | c.535G>A (p.Val179Ile) c.631G>A (p.Val211Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804021A>C | CA475205362 | CPT1A | c.534T>G (p.Ala178=) c.630T>G (p.Ala210=) | |
| 11 | g.68804021A>G | CA475205363 | CPT1A | c.534T>C (p.Ala178=) c.630T>C (p.Ala210=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68804021A>T | CA475205364 | CPT1A | c.534T>A (p.Ala178=) c.630T>A (p.Ala210=) | |
| 11 | g.68804022G>A | CA381635989 | CPT1A | c.533C>T (p.Ala178Val) c.629C>T (p.Ala210Val) | gnomAD v4 |
| 11 | g.68804022G>C | CA381635990 | CPT1A | c.533C>G (p.Ala178Gly) c.629C>G (p.Ala210Gly) | |
| 11 | g.68804022G>T | CA381635991 | CPT1A | c.533C>A (p.Ala178Asp) c.629C>A (p.Ala210Asp) | |
| 11 | g.68804023C>A | CA381635993 | CPT1A | c.532G>T (p.Ala178Ser) c.628G>T (p.Ala210Ser) | |
| 11 | g.68804023C>G | CA381635994 | CPT1A | c.532G>C (p.Ala178Pro) c.628G>C (p.Ala210Pro) | |
| 11 | g.68804023C>T | CA381635992 | CPT1A | c.532G>A (p.Ala178Thr) c.628G>A (p.Ala210Thr) | |
| 11 | g.68804024C>A | CA475205367 | CPT1A | c.531G>T (p.Pro177=) c.627G>T (p.Pro209=) | ClinVar |
| 11 | g.68804024C>G | CA475205370 | CPT1A | c.531G>C (p.Pro177=) c.627G>C (p.Pro209=) | |
| 11 | g.68804024C>T | CA6152633 | CPT1A | c.531G>A (p.Pro177=) c.627G>A (p.Pro209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804025G>A | CA381635995 | CPT1A | c.530C>T (p.Pro177Leu) c.626C>T (p.Pro209Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68804025G>C | CA381635996 | CPT1A | c.530C>G (p.Pro177Arg) c.626C>G (p.Pro209Arg) | |
| 11 | g.68804025G>T | CA381635997 | CPT1A | c.530C>A (p.Pro177Gln) c.626C>A (p.Pro209Gln) | COSMIC COSMIC |
| 11 | g.68804027del | CA2573147548 | CPT1A | c.530del (p.Pro177ArgfsTer7) c.626del (p.Pro209ArgfsTer7) | ClinVar dbSNP |
| 11 | g.68804026G>A | CA6152634 | CPT1A | c.529C>T (p.Pro177Ser) c.625C>T (p.Pro209Ser) | dbSNP ExAC gnomAD v2 |
| 11 | g.68804026G>C | CA381635998 | CPT1A | c.529C>G (p.Pro177Ala) c.625C>G (p.Pro209Ala) | |
| 11 | g.68804026G>T | CA381635999 | CPT1A | c.529C>A (p.Pro177Thr) c.625C>A (p.Pro209Thr) | |
| 11 | g.68804027G>A | CA475205389 | CPT1A | c.528C>T (p.Val176=) c.624C>T (p.Val208=) | |
| 11 | g.68804027G>C | CA475205387 | CPT1A | c.528C>G (p.Val176=) c.624C>G (p.Val208=) | ClinVar |
| 11 | g.68804027G>T | CA223393440 | CPT1A | c.528C>A (p.Val176=) c.624C>A (p.Val208=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68804028A>C | CA381636000 | CPT1A | c.527T>G (p.Val176Gly) c.623T>G (p.Val208Gly) | |
| 11 | g.68804028A>G | CA381636002 | CPT1A | c.527T>C (p.Val176Ala) c.623T>C (p.Val208Ala) | |
| 11 | g.68804028A>T | CA381636001 | CPT1A | c.527T>A (p.Val176Asp) c.623T>A (p.Val208Asp) | |
| 11 | g.68804029C>A | CA381636003 | CPT1A | c.526G>T (p.Val176Phe) c.622G>T (p.Val208Phe) | gnomAD v4 |
| 11 | g.68804029C>G | CA381636004 | CPT1A | c.526G>C (p.Val176Leu) c.622G>C (p.Val208Leu) | |
| 11 | g.68804029C>T | CA381636005 | CPT1A | c.526G>A (p.Val176Ile) c.622G>A (p.Val208Ile) | |
| 11 | g.68804030C>A | CA475205405 | CPT1A | c.525G>T (p.Pro175=) c.621G>T (p.Pro207=) | |
| 11 | g.68804030C>G | CA475205403 | CPT1A | c.525G>C (p.Pro175=) c.621G>C (p.Pro207=) | |
| 11 | g.68804030C>T | CA6152635 | CPT1A | c.525G>A (p.Pro175=) c.621G>A (p.Pro207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804031G>A | CA6152636 | CPT1A | c.524C>T (p.Pro175Leu) c.620C>T (p.Pro207Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804031G>C | CA381636006 | CPT1A | c.524C>G (p.Pro175Arg) c.620C>G (p.Pro207Arg) | gnomAD v4 |
| 11 | g.68804031G>T | CA6152637 | CPT1A | c.524C>A (p.Pro175Gln) c.620C>A (p.Pro207Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804032G>A | CA381636007 | CPT1A | c.523C>T (p.Pro175Ser) c.619C>T (p.Pro207Ser) | |
| 11 | g.68804032G>C | CA6152638 | CPT1A | c.523C>G (p.Pro175Ala) c.619C>G (p.Pro207Ala) | dbSNP ExAC gnomAD v4 |
| 11 | g.68804032G>T | CA381636008 | CPT1A | c.523C>A (p.Pro175Thr) c.619C>A (p.Pro207Thr) | |
| 11 | g.68804033C>A | CA475205419 | CPT1A | c.522G>T (p.Leu174=) c.618G>T (p.Leu206=) | |
| 11 | g.68804033C>G | CA475205423 | CPT1A | c.522G>C (p.Leu174=) c.618G>C (p.Leu206=) | |
| 11 | g.68804033C>T | CA475205421 | CPT1A | c.522G>A (p.Leu174=) c.618G>A (p.Leu206=) | dbSNP gnomAD v4 |
| 11 | g.68804034A>C | CA381636009 | CPT1A | c.521T>G (p.Leu174Arg) c.617T>G (p.Leu206Arg) | |
| 11 | g.68804034A>G | CA381636010 | CPT1A | c.521T>C (p.Leu174Pro) c.617T>C (p.Leu206Pro) | |
| 11 | g.68804034A>T | CA381636011 | CPT1A | c.521T>A (p.Leu174Gln) c.617T>A (p.Leu206Gln) | |
| 11 | g.68804035G>A | CA475205430 | CPT1A | c.520C>T (p.Leu174=) c.616C>T (p.Leu206=) | |
| 11 | g.68804035G>C | CA381636012 | CPT1A | c.520C>G (p.Leu174Val) c.616C>G (p.Leu206Val) | |
| 11 | g.68804035G>T | CA381636013 | CPT1A | c.520C>A (p.Leu174Met) c.616C>A (p.Leu206Met) | |
| 11 | g.68804036G>A | CA475205434 | CPT1A | c.519C>T (p.Arg173=) c.615C>T (p.Arg205=) | |
| 11 | g.68804036G>C | CA475205436 | CPT1A | c.519C>G (p.Arg173=) c.615C>G (p.Arg205=) | |
| 11 | g.68804036G>T | CA475205437 | CPT1A | c.519C>A (p.Arg173=) c.615C>A (p.Arg205=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68804037C>A | CA381636014 | CPT1A | c.518G>T (p.Arg173Leu) c.614G>T (p.Arg205Leu) | |
| 11 | g.68804037C>G | CA6152640 | CPT1A | c.518G>C (p.Arg173Pro) c.614G>C (p.Arg205Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68804037C>T | CA6152639 | CPT1A | c.518G>A (p.Arg173His) c.614G>A (p.Arg205His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804038G>A | CA6152641 | CPT1A | c.517C>T (p.Arg173Cys) c.613C>T (p.Arg205Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804038G>C | CA381636016 | CPT1A | c.517C>G (p.Arg173Gly) c.613C>G (p.Arg205Gly) | |
| 11 | g.68804038G>T | CA381636015 | CPT1A | c.517C>A (p.Arg173Ser) c.613C>A (p.Arg205Ser) | |
| 11 | g.68804039A>C | CA475205453 | CPT1A | c.516T>G (p.Pro172=) c.612T>G (p.Pro204=) | |
| 11 | g.68804039A>G | CA6152642 | CPT1A | c.516T>C (p.Pro172=) c.612T>C (p.Pro204=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68804039A>T | CA475205457 | CPT1A | c.516T>A (p.Pro172=) c.612T>A (p.Pro204=) | |
| 11 | g.68804040G>A | CA381636017 | CPT1A | c.515C>T (p.Pro172Leu) c.611C>T (p.Pro204Leu) | |
| 11 | g.68804040G>C | CA381636018 | CPT1A | c.515C>G (p.Pro172Arg) c.611C>G (p.Pro204Arg) | |
| 11 | g.68804040G>T | CA381636019 | CPT1A | c.515C>A (p.Pro172His) c.611C>A (p.Pro204His) | |
| 11 | g.68804041G>A | CA381636020 | CPT1A | c.514C>T (p.Pro172Ser) c.610C>T (p.Pro204Ser) | |
| 11 | g.68804041G>C | CA381636021 | CPT1A | c.514C>G (p.Pro172Ala) c.610C>G (p.Pro204Ala) | |
| 11 | g.68804041G>T | CA381636022 | CPT1A | c.514C>A (p.Pro172Thr) c.610C>A (p.Pro204Thr) | |
| 11 | g.68804042C>A | CA475205471 | CPT1A | c.513G>T (p.Leu171=) c.609G>T (p.Leu203=) | |
| 11 | g.68804042C>G | CA475205473 | CPT1A | c.513G>C (p.Leu171=) c.609G>C (p.Leu203=) | |
| 11 | g.68804042C>T | CA475205476 | CPT1A | c.513G>A (p.Leu171=) c.609G>A (p.Leu203=) | |
| 11 | g.68804043A>C | CA381636025 | CPT1A | c.512T>G (p.Leu171Arg) c.608T>G (p.Leu203Arg) | |
| 11 | g.68804043A>G | CA381636023 | CPT1A | c.512T>C (p.Leu171Pro) c.608T>C (p.Leu203Pro) | |
| 11 | g.68804043A>T | CA381636024 | CPT1A | c.512T>A (p.Leu171Gln) c.608T>A (p.Leu203Gln) | |
| 11 | g.68804044G>A | CA475205486 | CPT1A | c.511C>T (p.Leu171=) c.607C>T (p.Leu203=) | |
| 11 | g.68804044G>C | CA381636026 | CPT1A | c.511C>G (p.Leu171Val) c.607C>G (p.Leu203Val) | |
| 11 | g.68804044G>T | CA381636027 | CPT1A | c.511C>A (p.Leu171Met) c.607C>A (p.Leu203Met) | |
| 11 | g.68804045C>A | CA475205492 | CPT1A | c.510G>T (p.Ser170=) c.606G>T (p.Ser202=) | |
| 11 | g.68804045C>G | CA475205494 | CPT1A | c.510G>C (p.Ser170=) c.606G>C (p.Ser202=) | |
| 11 | g.68804045C>T | CA6152643 | CPT1A | c.510G>A (p.Ser170=) c.606G>A (p.Ser202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804046G>A | CA6152644 | CPT1A | c.509C>T (p.Ser170Leu) c.605C>T (p.Ser202Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.68804046G>C | CA381636028 | CPT1A | c.509C>G (p.Ser170Trp) c.605C>G (p.Ser202Trp) | |
| 11 | g.68804046G>T | CA381636029 | CPT1A | c.509C>A (p.Ser170Ter) c.605C>A (p.Ser202Ter) | |
| 11 | g.68804047A>C | CA381636030 | CPT1A | c.508T>G (p.Ser170Ala) c.604T>G (p.Ser202Ala) | |
| 11 | g.68804047A>G | CA381636032 | CPT1A | c.508T>C (p.Ser170Pro) c.604T>C (p.Ser202Pro) | |
| 11 | g.68804047A>T | CA381636031 | CPT1A | c.508T>A (p.Ser170Thr) c.604T>A (p.Ser202Thr) | |
| 11 | g.68804048T>A | CA475205505 | CPT1A | c.507A>T (p.Thr169=) c.603A>T (p.Thr201=) | |
| 11 | g.68804048T>C | CA475205508 | CPT1A | c.507A>G (p.Thr169=) c.603A>G (p.Thr201=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68804048T>G | CA223393511 | CPT1A | c.507A>C (p.Thr169=) c.603A>C (p.Thr201=) | ClinVar dbSNP |
| 11 | g.68804049G>A | CA381636033 | CPT1A | c.506C>T (p.Thr169Ile) c.602C>T (p.Thr201Ile) | |
| 11 | g.68804049G>C | CA381636034 | CPT1A | c.506C>G (p.Thr169Arg) c.602C>G (p.Thr201Arg) | |
| 11 | g.68804049G>T | CA381636035 | CPT1A | c.506C>A (p.Thr169Lys) c.602C>A (p.Thr201Lys) | |
| 11 | g.68804050T>A | CA381636036 | CPT1A | c.505A>T (p.Thr169Ser) c.601A>T (p.Thr201Ser) | dbSNP |
| 11 | g.68804050T>C | CA381636037 | CPT1A | c.505A>G (p.Thr169Ala) c.601A>G (p.Thr201Ala) | |
| 11 | g.68804050T>G | CA381636038 | CPT1A | c.505A>C (p.Thr169Pro) c.601A>C (p.Thr201Pro) | |
| 11 | g.68804051C>A | CA381636039 | CPT1A | c.504G>T (p.Gln168His) c.600G>T (p.Gln200His) | |
| 11 | g.68804051C>G | CA381636040 | CPT1A | c.504G>C (p.Gln168His) c.600G>C (p.Gln200His) | |
| 11 | g.68804051C>T | CA6152645 | CPT1A | c.504G>A (p.Gln168=) c.600G>A (p.Gln200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804052T>A | CA381636041 | CPT1A | c.503A>T (p.Gln168Leu) c.599A>T (p.Gln200Leu) | |
| 11 | g.68804052T>C | CA381636042 | CPT1A | c.503A>G (p.Gln168Arg) c.599A>G (p.Gln200Arg) | |
| 11 | g.68804052T>G | CA381636043 | CPT1A | c.503A>C (p.Gln168Pro) c.599A>C (p.Gln200Pro) | |
| 11 | g.68804053G>A | CA381636044 | CPT1A | c.502C>T (p.Gln168Ter) c.598C>T (p.Gln200Ter) | |
| 11 | g.68804053G>C | CA381636046 | CPT1A | c.502C>G (p.Gln168Glu) c.598C>G (p.Gln200Glu) | |
| 11 | g.68804053G>T | CA381636045 | CPT1A | c.502C>A (p.Gln168Lys) c.598C>A (p.Gln200Lys) | |
| 11 | g.68804054G>A | CA475205541 | CPT1A | c.501C>T (p.Phe167=) c.597C>T (p.Phe199=) | gnomAD v4 |
| 11 | g.68804054G>C | CA381636047 | CPT1A | c.501C>G (p.Phe167Leu) c.597C>G (p.Phe199Leu) | |
| 11 | g.68804054G>T | CA381636048 | CPT1A | c.501C>A (p.Phe167Leu) c.597C>A (p.Phe199Leu) | |
| 11 | g.68804055A>C | CA381636049 | CPT1A | c.500T>G (p.Phe167Cys) c.596T>G (p.Phe199Cys) | |
| 11 | g.68804055A>G | CA381636050 | CPT1A | c.500T>C (p.Phe167Ser) c.596T>C (p.Phe199Ser) | |
| 11 | g.68804055A>T | CA381636051 | CPT1A | c.500T>A (p.Phe167Tyr) c.596T>A (p.Phe199Tyr) | |
| 11 | g.68804056A>C | CA381636052 | CPT1A | c.499T>G (p.Phe167Val) c.595T>G (p.Phe199Val) | |
| 11 | g.68804056A>G | CA381636053 | CPT1A | c.499T>C (p.Phe167Leu) c.595T>C (p.Phe199Leu) | |
| 11 | g.68804056A>T | CA381636054 | CPT1A | c.499T>A (p.Phe167Ile) c.595T>A (p.Phe199Ile) | |
| 11 | g.68804057G>A | CA475205553 | CPT1A | c.498C>T (p.Ser166=) c.594C>T (p.Ser198=) | |
| 11 | g.68804057G>C | CA381636055 | CPT1A | c.498C>G (p.Ser166Arg) c.594C>G (p.Ser198Arg) | |
| 11 | g.68804057G>T | CA381636056 | CPT1A | c.498C>A (p.Ser166Arg) c.594C>A (p.Ser198Arg) | |
| 11 | g.68804058C>A | CA381636057 | CPT1A | c.497G>T (p.Ser166Ile) c.593G>T (p.Ser198Ile) | |
| 11 | g.68804058C>G | CA381636058 | CPT1A | c.497G>C (p.Ser166Thr) c.593G>C (p.Ser198Thr) | |
| 11 | g.68804058C>T | CA381636059 | CPT1A | c.497G>A (p.Ser166Asn) c.593G>A (p.Ser198Asn) | |
| 11 | g.68804059T>A | CA381636062 | CPT1A | c.496A>T (p.Ser166Cys) c.592A>T (p.Ser198Cys) | |
| 11 | g.68804059T>C | CA381636060 | CPT1A | c.496A>G (p.Ser166Gly) c.592A>G (p.Ser198Gly) | |
| 11 | g.68804059T>G | CA381636061 | CPT1A | c.496A>C (p.Ser166Arg) c.592A>C (p.Ser198Arg) | |
| 11 | g.68804060G>A | CA6152646 | CPT1A | c.495C>T (p.Tyr165=) c.591C>T (p.Tyr197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804060G>C | CA381636063 | CPT1A | c.495C>G (p.Tyr165Ter) c.591C>G (p.Tyr197Ter) | |
| 11 | g.68804060G>T | CA381636064 | CPT1A | c.495C>A (p.Tyr165Ter) c.591C>A (p.Tyr197Ter) | |
| 11 | g.68804061T>A | CA381636065 | CPT1A | c.494A>T (p.Tyr165Phe) c.590A>T (p.Tyr197Phe) | dbSNP |
| 11 | g.68804061T>C | CA381636066 | CPT1A | c.494A>G (p.Tyr165Cys) c.590A>G (p.Tyr197Cys) | |
| 11 | g.68804061T>G | CA381636067 | CPT1A | c.494A>C (p.Tyr165Ser) c.590A>C (p.Tyr197Ser) | |
| 11 | g.68804062A>C | CA381636068 | CPT1A | c.493T>G (p.Tyr165Asp) c.589T>G (p.Tyr197Asp) | |
| 11 | g.68804062A>G | CA381636069 | CPT1A | c.493T>C (p.Tyr165His) c.589T>C (p.Tyr197His) | |
| 11 | g.68804062A>T | CA381636070 | CPT1A | c.493T>A (p.Tyr165Asn) c.589T>A (p.Tyr197Asn) | |
| 11 | g.68804063C>A | CA381636071 | CPT1A | c.492G>T (p.Leu164Phe) c.588G>T (p.Leu196Phe) | |
| 11 | g.68804063C>G | CA381636072 | CPT1A | c.492G>C (p.Leu164Phe) c.588G>C (p.Leu196Phe) | |
| 11 | g.68804063C>T | CA6152647 | CPT1A | c.492G>A (p.Leu164=) c.588G>A (p.Leu196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804064A>C | CA381636073 | CPT1A | c.491T>G (p.Leu164Trp) c.587T>G (p.Leu196Trp) | |
| 11 | g.68804064A>G | CA381636075 | CPT1A | c.491T>C (p.Leu164Ser) c.587T>C (p.Leu196Ser) | ClinVar dbSNP |
| 11 | g.68804064A>T | CA381636074 | CPT1A | c.491T>A (p.Leu164Ter) c.587T>A (p.Leu196Ter) | |
| 11 | g.68804065A>C | CA381636076 | CPT1A | c.490T>G (p.Leu164Val) c.586T>G (p.Leu196Val) | |
| 11 | g.68804065A>G | CA475205599 | CPT1A | c.490T>C (p.Leu164=) c.586T>C (p.Leu196=) | |
| 11 | g.68804065A>T | CA381636077 | CPT1A | c.490T>A (p.Leu164Met) c.586T>A (p.Leu196Met) | |
| 11 | g.68804066C>A | CA381636078 | CPT1A | c.489G>T (p.Met163Ile) c.585G>T (p.Met195Ile) | |
| 11 | g.68804066C>G | CA381636079 | CPT1A | c.489G>C (p.Met163Ile) c.585G>C (p.Met195Ile) | |
| 11 | g.68804066C>T | CA381636080 | CPT1A | c.489G>A (p.Met163Ile) c.585G>A (p.Met195Ile) | |
| 11 | g.68804067A>C | CA381636083 | CPT1A | c.488T>G (p.Met163Arg) c.584T>G (p.Met195Arg) | |
| 11 | g.68804067A>G | CA381636082 | CPT1A | c.488T>C (p.Met163Thr) c.584T>C (p.Met195Thr) | |
| 11 | g.68804067A>T | CA381636081 | CPT1A | c.488T>A (p.Met163Lys) c.584T>A (p.Met195Lys) | |
| 11 | g.68804068T>A | CA381636084 | CPT1A | c.487A>T (p.Met163Leu) c.583A>T (p.Met195Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68804068T>C | CA381636085 | CPT1A | c.487A>G (p.Met163Val) c.583A>G (p.Met195Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68804068T>G | CA381636086 | CPT1A | c.487A>C (p.Met163Leu) c.583A>C (p.Met195Leu) | |
| 11 | g.68804069G>A | CA475205621 | CPT1A | c.486C>T (p.Pro162=) c.582C>T (p.Pro194=) | |
| 11 | g.68804069G>C | CA475205622 | CPT1A | c.486C>G (p.Pro162=) c.582C>G (p.Pro194=) | |
| 11 | g.68804069G>T | CA475205624 | CPT1A | c.486C>A (p.Pro162=) c.582C>A (p.Pro194=) | |
| 11 | g.68804070G>A | CA381636087 | CPT1A | c.485C>T (p.Pro162Leu) c.581C>T (p.Pro194Leu) | |
| 11 | g.68804070G>C | CA381636088 | CPT1A | c.485C>G (p.Pro162Arg) c.581C>G (p.Pro194Arg) | |
| 11 | g.68804070G>T | CA381636089 | CPT1A | c.485C>A (p.Pro162His) c.581C>A (p.Pro194His) | |
| 11 | g.68804071G>A | CA381636092 | CPT1A | c.484C>T (p.Pro162Ser) c.580C>T (p.Pro194Ser) | |
| 11 | g.68804071G>C | CA381636090 | CPT1A | c.484C>G (p.Pro162Ala) c.580C>G (p.Pro194Ala) | |
| 11 | g.68804071G>T | CA381636091 | CPT1A | c.484C>A (p.Pro162Thr) c.580C>A (p.Pro194Thr) | |
| 11 | g.68804072T>A | CA381636093 | CPT1A | c.483A>T (p.Lys161Asn) c.579A>T (p.Lys193Asn) | |
| 11 | g.68804072T>C | CA475205640 | CPT1A | c.483A>G (p.Lys161=) c.579A>G (p.Lys193=) | |
| 11 | g.68804072T>G | CA381636094 | CPT1A | c.483A>C (p.Lys161Asn) c.579A>C (p.Lys193Asn) | dbSNP |
| 11 | g.68804075dup | CA2580084751 | CPT1A | c.483dup (p.Pro162ThrfsTer?) c.579dup (p.Pro194ThrfsTer?) | ClinVar |
| 11 | g.68804075del | CA2574903445 | CPT1A | c.483del (p.Lys161AsnfsTer23) c.579del (p.Lys193AsnfsTer23) | ClinVar |
| 11 | g.68804073T>A | CA381636095 | CPT1A | c.482A>T (p.Lys161Ile) c.578A>T (p.Lys193Ile) | |
| 11 | g.68804073T>C | CA381636096 | CPT1A | c.482A>G (p.Lys161Arg) c.578A>G (p.Lys193Arg) | |
| 11 | g.68804073T>G | CA381636097 | CPT1A | c.482A>C (p.Lys161Thr) c.578A>C (p.Lys193Thr) | |
| 11 | g.68804074T>A | CA381636098 | CPT1A | c.481A>T (p.Lys161Ter) c.577A>T (p.Lys193Ter) | |
| 11 | g.68804074T>C | CA381636099 | CPT1A | c.481A>G (p.Lys161Glu) c.577A>G (p.Lys193Glu) | |
| 11 | g.68804074T>G | CA381636100 | CPT1A | c.481A>C (p.Lys161Gln) c.577A>C (p.Lys193Gln) | |
| 11 | g.68804075T>A | CA475205659 | CPT1A | c.480A>T (p.Arg160=) c.576A>T (p.Arg192=) | |
| 11 | g.68804075T>C | CA475205654 | CPT1A | c.480A>G (p.Arg160=) c.576A>G (p.Arg192=) | |
| 11 | g.68804075T>G | CA475205656 | CPT1A | c.480A>C (p.Arg160=) c.576A>C (p.Arg192=) | |
| 11 | g.68804076C>A | CA381636101 | CPT1A | c.479G>T (p.Arg160Leu) c.575G>T (p.Arg192Leu) | |
| 11 | g.68804076C>G | CA381636102 | CPT1A | c.479G>C (p.Arg160Pro) c.575G>C (p.Arg192Pro) | |
| 11 | g.68804076C>T | CA6152648 | CPT1A | c.479G>A (p.Arg160Gln) c.575G>A (p.Arg192Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804077G>A | CA344984 | CPT1A | c.478C>T (p.Arg160Ter) c.574C>T (p.Arg192Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68804077G>C | CA381636103 | CPT1A | c.478C>G (p.Arg160Gly) c.574C>G (p.Arg192Gly) | |
| 11 | g.68804077G>T | CA475205670 | CPT1A | c.478C>A (p.Arg160=) c.574C>A (p.Arg192=) | |
| 11 | g.68804078G>A | CA475205672 | CPT1A | c.477C>T (p.Gly159=) c.573C>T (p.Gly191=) | gnomAD v4 |
| 11 | g.68804078G>C | CA475205674 | CPT1A | c.477C>G (p.Gly159=) c.573C>G (p.Gly191=) | |
| 11 | g.68804078G>T | CA223393530 | CPT1A | c.477C>A (p.Gly159=) c.573C>A (p.Gly191=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804079C>A | CA381636104 | CPT1A | c.476G>T (p.Gly159Val) c.572G>T (p.Gly191Val) | |
| 11 | g.68804079C>G | CA381636106 | CPT1A | c.476G>C (p.Gly159Ala) c.572G>C (p.Gly191Ala) | |
| 11 | g.68804079C>T | CA381636105 | CPT1A | c.476G>A (p.Gly159Asp) c.572G>A (p.Gly191Asp) | |
| 11 | g.68804080C>A | CA381636107 | CPT1A | c.475G>T (p.Gly159Cys) c.571G>T (p.Gly191Cys) | |
| 11 | g.68804080C>G | CA381636108 | CPT1A | c.475G>C (p.Gly159Arg) c.571G>C (p.Gly191Arg) | |
| 11 | g.68804080C>T | CA381636109 | CPT1A | c.475G>A (p.Gly159Ser) c.571G>A (p.Gly191Ser) | |
| 11 | g.68804081T>A | CA475205684 | CPT1A | c.474A>T (p.Ser158=) c.570A>T (p.Ser190=) | |
| 11 | g.68804081T>C | CA475205686 | CPT1A | c.474A>G (p.Ser158=) c.570A>G (p.Ser190=) | |
| 11 | g.68804081T>G | CA475205688 | CPT1A | c.474A>C (p.Ser158=) c.570A>C (p.Ser190=) | |
| 11 | g.68804082G>A | CA381636110 | CPT1A | c.473C>T (p.Ser158Leu) c.569C>T (p.Ser190Leu) | |
| 11 | g.68804082G>C | CA381636111 | CPT1A | c.473C>G (p.Ser158Ter) c.569C>G (p.Ser190Ter) | |
| 11 | g.68804082G>T | CA381636112 | CPT1A | c.473C>A (p.Ser158Ter) c.569C>A (p.Ser190Ter) | |
| 11 | g.68804083A>C | CA381636113 | CPT1A | c.472T>G (p.Ser158Ala) c.568T>G (p.Ser190Ala) | |
| 11 | g.68804083A>G | CA381636114 | CPT1A | c.472T>C (p.Ser158Pro) c.568T>C (p.Ser190Pro) | |
| 11 | g.68804083A>T | CA381636115 | CPT1A | c.472T>A (p.Ser158Thr) c.568T>A (p.Ser190Thr) | |
| 11 | g.68804084A>C | CA381636116 | CPT1A | c.471T>G (p.Phe157Leu) c.567T>G (p.Phe189Leu) | |
| 11 | g.68804084A>G | CA475205697 | CPT1A | c.471T>C (p.Phe157=) c.567T>C (p.Phe189=) | |
| 11 | g.68804084A>T | CA381636117 | CPT1A | c.471T>A (p.Phe157Leu) c.567T>A (p.Phe189Leu) | |
| 11 | g.68804085A>C | CA381636120 | CPT1A | c.470T>G (p.Phe157Cys) c.566T>G (p.Phe189Cys) | |
| 11 | g.68804085A>G | CA381636119 | CPT1A | c.470T>C (p.Phe157Ser) c.566T>C (p.Phe189Ser) | |
| 11 | g.68804085A>T | CA381636118 | CPT1A | c.470T>A (p.Phe157Tyr) c.566T>A (p.Phe189Tyr) | |
| 11 | g.68804086A>C | CA381636121 | CPT1A | c.469T>G (p.Phe157Val) c.565T>G (p.Phe189Val) | |
| 11 | g.68804086A>G | CA381636122 | CPT1A | c.469T>C (p.Phe157Leu) c.565T>C (p.Phe189Leu) | |
| 11 | g.68804086A>T | CA381636123 | CPT1A | c.469T>A (p.Phe157Ile) c.565T>A (p.Phe189Ile) | |
| 11 | g.68804087G>A | CA475205712 | CPT1A | c.468C>T (p.Ile156=) c.564C>T (p.Ile188=) | dbSNP COSMIC COSMIC |
| 11 | g.68804087G>C | CA381636124 | CPT1A | c.468C>G (p.Ile156Met) c.564C>G (p.Ile188Met) | |
| 11 | g.68804087G>T | CA475205722 | CPT1A | c.468C>A (p.Ile156=) c.564C>A (p.Ile188=) | |
| 11 | g.68804088A>C | CA381636125 | CPT1A | c.467T>G (p.Ile156Ser) c.563T>G (p.Ile188Ser) | |
| 11 | g.68804088A>G | CA381636126 | CPT1A | c.467T>C (p.Ile156Thr) c.563T>C (p.Ile188Thr) | |
| 11 | g.68804088A>T | CA6152649 | CPT1A | c.467T>A (p.Ile156Asn) c.563T>A (p.Ile188Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68804089T>A | CA381636127 | CPT1A | c.466A>T (p.Ile156Phe) c.562A>T (p.Ile188Phe) | |
| 11 | g.68804089T>C | CA6152650 | CPT1A | c.466A>G (p.Ile156Val) c.562A>G (p.Ile188Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804089T>G | CA381636128 | CPT1A | c.466A>C (p.Ile156Leu) c.562A>C (p.Ile188Leu) | |
| 11 | g.68804090del | CA916083258 | CPT1A | c.465del (p.Ile156SerfsTer28) c.561del (p.Ile188SerfsTer28) | ClinVar dbSNP |
| 11 | g.68804090C>A | CA381636129 | CPT1A | c.465G>T (p.Lys155Asn) c.561G>T (p.Lys187Asn) | |
| 11 | g.68804090C>G | CA381636130 | CPT1A | c.465G>C (p.Lys155Asn) c.561G>C (p.Lys187Asn) | |
| 11 | g.68804090C>T | CA475205747 | CPT1A | c.465G>A (p.Lys155=) c.561G>A (p.Lys187=) | |
| 11 | g.68804091T>A | CA381636131 | CPT1A | c.464A>T (p.Lys155Met) c.560A>T (p.Lys187Met) | |
| 11 | g.68804091T>C | CA381636133 | CPT1A | c.464A>G (p.Lys155Arg) c.560A>G (p.Lys187Arg) | |
| 11 | g.68804091T>G | CA381636132 | CPT1A | c.464A>C (p.Lys155Thr) c.560A>C (p.Lys187Thr) | |
| 11 | g.68804092T>A | CA381636134 | CPT1A | c.463A>T (p.Lys155Ter) c.559A>T (p.Lys187Ter) | |
| 11 | g.68804092T>C | CA223393537 | CPT1A | c.463A>G (p.Lys155Glu) c.559A>G (p.Lys187Glu) | dbSNP gnomAD v4 |
| 11 | g.68804092T>G | CA381636135 | CPT1A | c.463A>C (p.Lys155Gln) c.559A>C (p.Lys187Gln) | |
| 11 | g.68804093G>A | CA475205755 | CPT1A | c.462C>T (p.Val154=) c.558C>T (p.Val186=) | |
| 11 | g.68804093G>C | CA475205757 | CPT1A | c.462C>G (p.Val154=) c.558C>G (p.Val186=) | |
| 11 | g.68804093G>T | CA475205759 | CPT1A | c.462C>A (p.Val154=) c.558C>A (p.Val186=) | gnomAD v4 |
| 11 | g.68804094A>C | CA381636136 | CPT1A | c.461T>G (p.Val154Gly) c.557T>G (p.Val186Gly) | |
| 11 | g.68804094A>G | CA381636138 | CPT1A | c.461T>C (p.Val154Ala) c.557T>C (p.Val186Ala) | |
| 11 | g.68804094A>T | CA381636137 | CPT1A | c.461T>A (p.Val154Asp) c.557T>A (p.Val186Asp) | |
| 11 | g.68804095C>A | CA381636139 | CPT1A | c.460G>T (p.Val154Phe) c.556G>T (p.Val186Phe) | gnomAD v4 |
| 11 | g.68804095C>G | CA381636140 | CPT1A | c.460G>C (p.Val154Leu) c.556G>C (p.Val186Leu) | gnomAD v4 |
| 11 | g.68804095C>T | CA381636141 | CPT1A | c.460G>A (p.Val154Ile) c.556G>A (p.Val186Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68804096del | CA2574903446 | CPT1A | c.460del (p.Val154SerfsTer30) c.556del (p.Val186SerfsTer30) | gnomAD v4 |
| 11 | g.68804096C>A | CA381636142 | CPT1A | c.459G>T (p.Met153Ile) c.555G>T (p.Met185Ile) | |
| 11 | g.68804096C>G | CA381636143 | CPT1A | c.459G>C (p.Met153Ile) c.555G>C (p.Met185Ile) | |
| 11 | g.68804096C>T | CA381636144 | CPT1A | c.459G>A (p.Met153Ile) c.555G>A (p.Met185Ile) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68804097A>C | CA381636145 | CPT1A | c.458T>G (p.Met153Arg) c.554T>G (p.Met185Arg) | |
| 11 | g.68804097A>G | CA6152651 | CPT1A | c.458T>C (p.Met153Thr) c.554T>C (p.Met185Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68804097A>T | CA381636146 | CPT1A | c.458T>A (p.Met153Lys) c.554T>A (p.Met185Lys) | |
| 11 | g.68804098T>A | CA381636147 | CPT1A | c.457A>T (p.Met153Leu) c.553A>T (p.Met185Leu) | |
| 11 | g.68804098T>C | CA6152652 | CPT1A | c.457A>G (p.Met153Val) c.553A>G (p.Met185Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804098T>G | CA381636148 | CPT1A | c.457A>C (p.Met153Leu) c.553A>C (p.Met185Leu) | |
| 11 | g.68804099A>C | CA475205793 | CPT1A | c.456T>G (p.Gly152=) c.552T>G (p.Gly184=) | |
| 11 | g.68804099A>G | CA475205796 | CPT1A | c.456T>C (p.Gly152=) c.552T>C (p.Gly184=) | |
| 11 | g.68804099A>T | CA475205798 | CPT1A | c.456T>A (p.Gly152=) c.552T>A (p.Gly184=) | |
| 11 | g.68804100C>A | CA6152653 | CPT1A | c.455G>T (p.Gly152Val) c.551G>T (p.Gly184Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804100C>G | CA381636149 | CPT1A | c.455G>C (p.Gly152Ala) c.551G>C (p.Gly184Ala) | |
| 11 | g.68804100C>T | CA381636150 | CPT1A | c.455G>A (p.Gly152Asp) c.551G>A (p.Gly184Asp) | gnomAD v4 |
| 11 | g.68804101C>A | CA381636151 | CPT1A | c.454G>T (p.Gly152Cys) c.550G>T (p.Gly184Cys) | gnomAD v4 |
| 11 | g.68804101C>G | CA381636152 | CPT1A | c.454G>C (p.Gly152Arg) c.550G>C (p.Gly184Arg) | |
| 11 | g.68804101C>T | CA381636153 | CPT1A | c.454G>A (p.Gly152Ser) c.550G>A (p.Gly184Ser) | ClinVar |
| 11 | g.68804102C>A | CA381636154 | CPT1A | c.454-1G>T (n.454-1G>T) c.550-1G>T (n.550-1G>T) | |
| 11 | g.68804102C>G | CA381636155 | CPT1A | c.454-1G>C (n.454-1G>C) c.550-1G>C (n.550-1G>C) | |
| 11 | g.68804102C>T | CA381636156 | CPT1A | c.454-1G>A (n.454-1G>A) c.550-1G>A (n.550-1G>A) |