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.68812451C>A | CA475207499 | CPT1A | c.267G>T (p.Arg89=) c.363G>T (p.Arg121=) | |
| 11 | g.68812451C>G | CA475207497 | CPT1A | c.267G>C (p.Arg89=) c.363G>C (p.Arg121=) | dbSNP |
| 11 | g.68812451C>T | CA475207498 | CPT1A | c.267G>A (p.Arg89=) c.363G>A (p.Arg121=) | |
| 11 | g.68812452C>A | CA381637786 | CPT1A | c.266G>T (p.Arg89Leu) c.362G>T (p.Arg121Leu) | |
| 11 | g.68812452C>G | CA381637790 | CPT1A | c.266G>C (p.Arg89Pro) c.362G>C (p.Arg121Pro) | COSMIC COSMIC |
| 11 | g.68812452C>T | CA6152733 | CPT1A | c.266G>A (p.Arg89Gln) c.362G>A (p.Arg121Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812453G>A | CA6152734 | CPT1A | c.265C>T (p.Arg89Trp) c.361C>T (p.Arg121Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812453G>C | CA381637793 | CPT1A | c.265C>G (p.Arg89Gly) c.361C>G (p.Arg121Gly) | dbSNP |
| 11 | g.68812453G>T | CA475207500 | CPT1A | c.265C>A (p.Arg89=) c.361C>A (p.Arg121=) | |
| 11 | g.68812454A>C | CA381637795 | CPT1A | c.264T>G (p.Asn88Lys) c.360T>G (p.Asn120Lys) | |
| 11 | g.68812454A>G | CA475207501 | CPT1A | c.264T>C (p.Asn88=) c.360T>C (p.Asn120=) | |
| 11 | g.68812454A>T | CA381637797 | CPT1A | c.264T>A (p.Asn88Lys) c.360T>A (p.Asn120Lys) | |
| 11 | g.68812455T>A | CA223400172 | CPT1A | c.263A>T (p.Asn88Ile) c.359A>T (p.Asn120Ile) | dbSNP gnomAD v4 |
| 11 | g.68812455T>C | CA6152735 | CPT1A | c.263A>G (p.Asn88Ser) c.359A>G (p.Asn120Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812455T>G | CA381637800 | CPT1A | c.263A>C (p.Asn88Thr) c.359A>C (p.Asn120Thr) | gnomAD v4 |
| 11 | g.68812456T>A | CA381637805 | CPT1A | c.262A>T (p.Asn88Tyr) c.358A>T (p.Asn120Tyr) | |
| 11 | g.68812456T>C | CA381637806 | CPT1A | c.262A>G (p.Asn88Asp) c.358A>G (p.Asn120Asp) | |
| 11 | g.68812456T>G | CA381637809 | CPT1A | c.262A>C (p.Asn88His) c.358A>C (p.Asn120His) | |
| 11 | g.68812457G>A | CA475207503 | CPT1A | c.261C>T (p.Ile87=) c.357C>T (p.Ile119=) | ClinVar dbSNP |
| 11 | g.68812457G>C | CA381637811 | CPT1A | c.261C>G (p.Ile87Met) c.357C>G (p.Ile119Met) | |
| 11 | g.68812457G>T | CA475207502 | CPT1A | c.261C>A (p.Ile87=) c.357C>A (p.Ile119=) | |
| 11 | g.68812458A>C | CA381637814 | CPT1A | c.260T>G (p.Ile87Ser) c.356T>G (p.Ile119Ser) | |
| 11 | g.68812458A>G | CA381637816 | CPT1A | c.260T>C (p.Ile87Thr) c.356T>C (p.Ile119Thr) | |
| 11 | g.68812458A>T | CA381637819 | CPT1A | c.260T>A (p.Ile87Asn) c.356T>A (p.Ile119Asn) | |
| 11 | g.68812459T>A | CA381637821 | CPT1A | c.259A>T (p.Ile87Phe) c.355A>T (p.Ile119Phe) | |
| 11 | g.68812459T>C | CA381637823 | CPT1A | c.259A>G (p.Ile87Val) c.355A>G (p.Ile119Val) | |
| 11 | g.68812459T>G | CA381637825 | CPT1A | c.259A>C (p.Ile87Leu) c.355A>C (p.Ile119Leu) | |
| 11 | g.68812460T>A | CA6152736 | CPT1A | c.258A>T (p.Lys86Asn) c.354A>T (p.Lys118Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812460T>C | CA475207504 | CPT1A | c.258A>G (p.Lys86=) c.354A>G (p.Lys118=) | |
| 11 | g.68812460T>G | CA381637827 | CPT1A | c.258A>C (p.Lys86Asn) c.354A>C (p.Lys118Asn) | gnomAD v4 |
| 11 | g.68812461T>A | CA381637829 | CPT1A | c.257A>T (p.Lys86Ile) c.353A>T (p.Lys118Ile) | |
| 11 | g.68812461T>C | CA381637834 | CPT1A | c.257A>G (p.Lys86Arg) c.353A>G (p.Lys118Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812461T>G | CA381637832 | CPT1A | c.257A>C (p.Lys86Thr) c.353A>C (p.Lys118Thr) | |
| 11 | g.68812462T>A | CA381637837 | CPT1A | c.256A>T (p.Lys86Ter) c.352A>T (p.Lys118Ter) | |
| 11 | g.68812462T>C | CA6152737 | CPT1A | c.256A>G (p.Lys86Glu) c.352A>G (p.Lys118Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812462T>G | CA381637840 | CPT1A | c.256A>C (p.Lys86Gln) c.352A>C (p.Lys118Gln) | |
| 11 | g.68812463T>A | CA475207505 | CPT1A | c.255A>T (p.Ala85=) c.351A>T (p.Ala117=) | |
| 11 | g.68812463T>C | CA475207506 | CPT1A | c.255A>G (p.Ala85=) c.351A>G (p.Ala117=) | |
| 11 | g.68812463T>G | CA475207507 | CPT1A | c.255A>C (p.Ala85=) c.351A>C (p.Ala117=) | |
| 11 | g.68812464G>A | CA381637843 | CPT1A | c.254C>T (p.Ala85Val) c.350C>T (p.Ala117Val) | |
| 11 | g.68812464G>C | CA381637846 | CPT1A | c.254C>G (p.Ala85Gly) c.350C>G (p.Ala117Gly) | |
| 11 | g.68812464G>T | CA381637848 | CPT1A | c.254C>A (p.Ala85Glu) c.350C>A (p.Ala117Glu) | gnomAD v4 |
| 11 | g.68812465C>A | CA381637849 | CPT1A | c.253G>T (p.Ala85Ser) c.349G>T (p.Ala117Ser) | |
| 11 | g.68812465C>G | CA381637851 | CPT1A | c.253G>C (p.Ala85Pro) c.349G>C (p.Ala117Pro) | |
| 11 | g.68812465C>T | CA381637854 | CPT1A | c.253G>A (p.Ala85Thr) c.349G>A (p.Ala117Thr) | |
| 11 | g.68812466A>C | CA381637857 | CPT1A | c.252T>G (p.Ile84Met) c.348T>G (p.Ile116Met) | |
| 11 | g.68812466A>G | CA475207509 | CPT1A | c.252T>C (p.Ile84=) c.348T>C (p.Ile116=) | COSMIC COSMIC |
| 11 | g.68812466A>T | CA475207508 | CPT1A | c.252T>A (p.Ile84=) c.348T>A (p.Ile116=) | |
| 11 | g.68812467A>C | CA381637860 | CPT1A | c.251T>G (p.Ile84Ser) c.347T>G (p.Ile116Ser) | |
| 11 | g.68812467A>G | CA381637863 | CPT1A | c.251T>C (p.Ile84Thr) c.347T>C (p.Ile116Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68812467A>T | CA381637865 | CPT1A | c.251T>A (p.Ile84Asn) c.347T>A (p.Ile116Asn) | |
| 11 | g.68812468T>A | CA381637868 | CPT1A | c.250A>T (p.Ile84Phe) c.346A>T (p.Ile116Phe) | |
| 11 | g.68812468T>C | CA381637873 | CPT1A | c.250A>G (p.Ile84Val) c.346A>G (p.Ile116Val) | |
| 11 | g.68812468T>G | CA381637870 | CPT1A | c.250A>C (p.Ile84Leu) c.346A>C (p.Ile116Leu) | |
| 11 | g.68812469T>A | CA475207510 | CPT1A | c.249A>T (p.Ile83=) c.345A>T (p.Ile115=) | |
| 11 | g.68812469T>C | CA381637875 | CPT1A | c.249A>G (p.Ile83Met) c.345A>G (p.Ile115Met) | |
| 11 | g.68812469T>G | CA475207511 | CPT1A | c.249A>C (p.Ile83=) c.345A>C (p.Ile115=) | |
| 11 | g.68812470A>C | CA381637877 | CPT1A | c.248T>G (p.Ile83Arg) c.344T>G (p.Ile115Arg) | |
| 11 | g.68812470A>G | CA6152738 | CPT1A | c.248T>C (p.Ile83Thr) c.344T>C (p.Ile115Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812470A>T | CA381637881 | CPT1A | c.248T>A (p.Ile83Lys) c.344T>A (p.Ile115Lys) | |
| 11 | g.68812471T>A | CA381637883 | CPT1A | c.247A>T (p.Ile83Leu) c.343A>T (p.Ile115Leu) | |
| 11 | g.68812471T>C | CA6152739 | CPT1A | c.247A>G (p.Ile83Val) c.343A>G (p.Ile115Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812471T>G | CA381637886 | CPT1A | c.247A>C (p.Ile83Leu) c.343A>C (p.Ile115Leu) | |
| 11 | g.68812472T>A | CA475207512 | CPT1A | c.246A>T (p.Gly82=) c.342A>T (p.Gly114=) | |
| 11 | g.68812472T>C | CA475207513 | CPT1A | c.246A>G (p.Gly82=) c.342A>G (p.Gly114=) | |
| 11 | g.68812472T>G | CA475207514 | CPT1A | c.246A>C (p.Gly82=) c.342A>C (p.Gly114=) | |
| 11 | g.68812473C>A | CA381637888 | CPT1A | c.245G>T (p.Gly82Val) c.341G>T (p.Gly114Val) | |
| 11 | g.68812473C>G | CA381637889 | CPT1A | c.245G>C (p.Gly82Ala) c.341G>C (p.Gly114Ala) | |
| 11 | g.68812473C>T | CA381637891 | CPT1A | c.245G>A (p.Gly82Glu) c.341G>A (p.Gly114Glu) | |
| 11 | g.68812474C>A | CA381637898 | CPT1A | c.244G>T (p.Gly82Ter) c.340G>T (p.Gly114Ter) | |
| 11 | g.68812474C>G | CA381637896 | CPT1A | c.244G>C (p.Gly82Arg) c.340G>C (p.Gly114Arg) | |
| 11 | g.68812474C>T | CA381637894 | CPT1A | c.244G>A (p.Gly82Arg) c.340G>A (p.Gly114Arg) | ClinVar dbSNP |
| 11 | g.68812475T>A | CA381637902 | CPT1A | c.243A>T (p.Leu81Phe) c.339A>T (p.Leu113Phe) | |
| 11 | g.68812475T>C | CA475207515 | CPT1A | c.243A>G (p.Leu81=) c.339A>G (p.Leu113=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68812475T>G | CA381637904 | CPT1A | c.243A>C (p.Leu81Phe) c.339A>C (p.Leu113Phe) | |
| 11 | g.68812476A>C | CA381637905 | CPT1A | c.242T>G (p.Leu81Ter) c.338T>G (p.Leu113Ter) | |
| 11 | g.68812476A>G | CA381637907 | CPT1A | c.242T>C (p.Leu81Ser) c.338T>C (p.Leu113Ser) | gnomAD v4 |
| 11 | g.68812476A>T | CA381637909 | CPT1A | c.242T>A (p.Leu81Ter) c.338T>A (p.Leu113Ter) | ClinVar |
| 11 | g.68812477A>C | CA381637912 | CPT1A | c.241T>G (p.Leu81Val) c.337T>G (p.Leu113Val) | |
| 11 | g.68812477A>G | CA475207516 | CPT1A | c.241T>C (p.Leu81=) c.337T>C (p.Leu113=) | |
| 11 | g.68812477A>T | CA381637914 | CPT1A | c.241T>A (p.Leu81Ile) c.337T>A (p.Leu113Ile) | |
| 11 | g.68812479_68812499del | CA2497319869 | CPT1A | c.221_241del (p.Tyr74_Ser80del) c.317_337del (p.Tyr106_Ser112del) | ClinVar dbSNP |
| 11 | g.68812478C>A | CA475207518 | CPT1A | c.240G>T (p.Ser80=) c.336G>T (p.Ser112=) | |
| 11 | g.68812478C>G | CA475207517 | CPT1A | c.240G>C (p.Ser80=) c.336G>C (p.Ser112=) | ClinVar gnomAD v4 |
| 11 | g.68812478C>T | CA312404 | CPT1A | c.240G>A (p.Ser80=) c.336G>A (p.Ser112=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812479G>A | CA6152740 | CPT1A | c.239C>T (p.Ser80Leu) c.335C>T (p.Ser112Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68812479G>C | CA381637922 | CPT1A | c.239C>G (p.Ser80Trp) c.335C>G (p.Ser112Trp) | |
| 11 | g.68812479G>T | CA381637919 | CPT1A | c.239C>A (p.Ser80Ter) c.335C>A (p.Ser112Ter) | |
| 11 | g.68812480A>C | CA381637926 | CPT1A | c.238T>G (p.Ser80Ala) c.334T>G (p.Ser112Ala) | |
| 11 | g.68812480A>G | CA381637928 | CPT1A | c.238T>C (p.Ser80Pro) c.334T>C (p.Ser112Pro) | |
| 11 | g.68812480A>T | CA381637930 | CPT1A | c.238T>A (p.Ser80Thr) c.334T>A (p.Ser112Thr) | |
| 11 | g.68812481G>A | CA475207519 | CPT1A | c.237C>T (p.Pro79=) c.333C>T (p.Pro111=) | |
| 11 | g.68812481G>C | CA475207520 | CPT1A | c.237C>G (p.Pro79=) c.333C>G (p.Pro111=) | |
| 11 | g.68812481G>T | CA475207521 | CPT1A | c.237C>A (p.Pro79=) c.333C>A (p.Pro111=) | |
| 11 | g.68812484dup | CA2614738185 | CPT1A | c.237dup (p.Ser80LeufsTer?) c.333dup (p.Ser112LeufsTer?) | gnomAD v4 |
| 11 | g.68812482G>A | CA381637932 | CPT1A | c.236C>T (p.Pro79Leu) c.332C>T (p.Pro111Leu) | gnomAD v4 |
| 11 | g.68812482G>C | CA381637934 | CPT1A | c.236C>G (p.Pro79Arg) c.332C>G (p.Pro111Arg) | |
| 11 | g.68812482G>T | CA381637936 | CPT1A | c.236C>A (p.Pro79His) c.332C>A (p.Pro111His) | |
| 11 | g.68812483G>A | CA381637939 | CPT1A | c.235C>T (p.Pro79Ser) c.331C>T (p.Pro111Ser) | |
| 11 | g.68812483G>C | CA381637943 | CPT1A | c.235C>G (p.Pro79Ala) c.331C>G (p.Pro111Ala) | |
| 11 | g.68812483G>T | CA381637941 | CPT1A | c.235C>A (p.Pro79Thr) c.331C>A (p.Pro111Thr) | |
| 11 | g.68812484G>A | CA475207522 | CPT1A | c.234C>T (p.Asp78=) c.330C>T (p.Asp110=) | |
| 11 | g.68812484G>C | CA381637944 | CPT1A | c.234C>G (p.Asp78Glu) c.330C>G (p.Asp110Glu) | |
| 11 | g.68812484G>T | CA381637946 | CPT1A | c.234C>A (p.Asp78Glu) c.330C>A (p.Asp110Glu) | |
| 11 | g.68812485T>A | CA381637949 | CPT1A | c.233A>T (p.Asp78Val) c.329A>T (p.Asp110Val) | |
| 11 | g.68812485T>C | CA381637951 | CPT1A | c.233A>G (p.Asp78Gly) c.329A>G (p.Asp110Gly) | |
| 11 | g.68812485T>G | CA381637952 | CPT1A | c.233A>C (p.Asp78Ala) c.329A>C (p.Asp110Ala) | |
| 11 | g.68812486C>A | CA381637956 | CPT1A | c.232G>T (p.Asp78Tyr) c.328G>T (p.Asp110Tyr) | |
| 11 | g.68812486C>G | CA381637958 | CPT1A | c.232G>C (p.Asp78His) c.328G>C (p.Asp110His) | dbSNP |
| 11 | g.68812486C>T | CA6152741 | CPT1A | c.232G>A (p.Asp78Asn) c.328G>A (p.Asp110Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812487G>A | CA475207523 | CPT1A | c.231C>T (p.Ile77=) c.327C>T (p.Ile109=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68812487G>C | CA381637961 | CPT1A | c.231C>G (p.Ile77Met) c.327C>G (p.Ile109Met) | |
| 11 | g.68812487G>T | CA475207524 | CPT1A | c.231C>A (p.Ile77=) c.327C>A (p.Ile109=) | |
| 11 | g.68812488A>C | CA381637963 | CPT1A | c.230T>G (p.Ile77Ser) c.326T>G (p.Ile109Ser) | |
| 11 | g.68812488A>G | CA381637965 | CPT1A | c.230T>C (p.Ile77Thr) c.326T>C (p.Ile109Thr) | |
| 11 | g.68812488A>T | CA381637967 | CPT1A | c.230T>A (p.Ile77Asn) c.326T>A (p.Ile109Asn) | |
| 11 | g.68812489T>A | CA381637970 | CPT1A | c.229A>T (p.Ile77Phe) c.325A>T (p.Ile109Phe) | |
| 11 | g.68812489T>C | CA381637973 | CPT1A | c.229A>G (p.Ile77Val) c.325A>G (p.Ile109Val) | gnomAD v4 |
| 11 | g.68812489T>G | CA381637972 | CPT1A | c.229A>C (p.Ile77Leu) c.325A>C (p.Ile109Leu) | |
| 11 | g.68812490C>A | CA381637976 | CPT1A | c.228G>T (p.Lys76Asn) c.324G>T (p.Lys108Asn) | |
| 11 | g.68812490C>G | CA381637978 | CPT1A | c.228G>C (p.Lys76Asn) c.324G>C (p.Lys108Asn) | |
| 11 | g.68812490C>T | CA475207525 | CPT1A | c.228G>A (p.Lys76=) c.324G>A (p.Lys108=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68812491T>A | CA381637981 | CPT1A | c.227A>T (p.Lys76Met) c.323A>T (p.Lys108Met) | |
| 11 | g.68812491T>C | CA381637983 | CPT1A | c.227A>G (p.Lys76Arg) c.323A>G (p.Lys108Arg) | |
| 11 | g.68812491T>G | CA381637985 | CPT1A | c.227A>C (p.Lys76Thr) c.323A>C (p.Lys108Thr) | |
| 11 | g.68812492del | CA2614738229 | CPT1A | c.227del (p.Lys76ArgfsTer6) c.323del (p.Lys108ArgfsTer6) | gnomAD v4 |
| 11 | g.68812492T>A | CA381637988 | CPT1A | c.226A>T (p.Lys76Ter) c.322A>T (p.Lys108Ter) | |
| 11 | g.68812492T>C | CA381637991 | CPT1A | c.226A>G (p.Lys76Glu) c.322A>G (p.Lys108Glu) | gnomAD v4 |
| 11 | g.68812492T>G | CA381637993 | CPT1A | c.226A>C (p.Lys76Gln) c.322A>C (p.Lys108Gln) | |
| 11 | g.68812493G>A | CA475207528 | CPT1A | c.225C>T (p.Ala75=) c.321C>T (p.Ala107=) | |
| 11 | g.68812493G>C | CA475207526 | CPT1A | c.225C>G (p.Ala75=) c.321C>G (p.Ala107=) | |
| 11 | g.68812493G>T | CA475207527 | CPT1A | c.225C>A (p.Ala75=) c.321C>A (p.Ala107=) | |
| 11 | g.68812494G>A | CA381637996 | CPT1A | c.224C>T (p.Ala75Val) c.320C>T (p.Ala107Val) | |
| 11 | g.68812494G>C | CA381637998 | CPT1A | c.224C>G (p.Ala75Gly) c.320C>G (p.Ala107Gly) | |
| 11 | g.68812494G>T | CA381638001 | CPT1A | c.224C>A (p.Ala75Asp) c.320C>A (p.Ala107Asp) | |
| 11 | g.68812495C>A | CA381638008 | CPT1A | c.223G>T (p.Ala75Ser) c.319G>T (p.Ala107Ser) | dbSNP |
| 11 | g.68812495C>G | CA381638005 | CPT1A | c.223G>C (p.Ala75Pro) c.319G>C (p.Ala107Pro) | |
| 11 | g.68812495C>T | CA6152742 | CPT1A | c.223G>A (p.Ala75Thr) c.319G>A (p.Ala107Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812495dup | CA2574903519 | CPT1A | c.223dup (p.Ala75GlyfsTer?) c.319dup (p.Ala107GlyfsTer?) | |
| 11 | g.68812496G>A | CA6152743 | CPT1A | c.222C>T (p.Tyr74=) c.318C>T (p.Tyr106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68812496G>C | CA381638012 | CPT1A | c.222C>G (p.Tyr74Ter) c.318C>G (p.Tyr106Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812496G>T | CA221855 | CPT1A | c.222C>A (p.Tyr74Ter) c.318C>A (p.Tyr106Ter) | ClinVar dbSNP |
| 11 | g.68812497T>A | CA381638016 | CPT1A | c.221A>T (p.Tyr74Phe) c.317A>T (p.Tyr106Phe) | |
| 11 | g.68812497T>C | CA381638018 | CPT1A | c.221A>G (p.Tyr74Cys) c.317A>G (p.Tyr106Cys) | |
| 11 | g.68812497T>G | CA381638021 | CPT1A | c.221A>C (p.Tyr74Ser) c.317A>C (p.Tyr106Ser) | |
| 11 | g.68812498A>C | CA381638023 | CPT1A | c.220T>G (p.Tyr74Asp) c.316T>G (p.Tyr106Asp) | |
| 11 | g.68812498A>G | CA381638026 | CPT1A | c.220T>C (p.Tyr74His) c.316T>C (p.Tyr106His) | |
| 11 | g.68812498A>T | CA381638028 | CPT1A | c.220T>A (p.Tyr74Asn) c.316T>A (p.Tyr106Asn) | |
| 11 | g.68812499C>A | CA381638030 | CPT1A | c.219G>T (p.Met73Ile) c.315G>T (p.Met105Ile) | |
| 11 | g.68812499C>G | CA381638032 | CPT1A | c.219G>C (p.Met73Ile) c.315G>C (p.Met105Ile) | |
| 11 | g.68812499C>T | CA381638034 | CPT1A | c.219G>A (p.Met73Ile) c.315G>A (p.Met105Ile) | |
| 11 | g.68812500A>C | CA381638038 | CPT1A | c.218T>G (p.Met73Arg) c.314T>G (p.Met105Arg) | |
| 11 | g.68812500A>G | CA381638037 | CPT1A | c.218T>C (p.Met73Thr) c.314T>C (p.Met105Thr) | |
| 11 | g.68812500A>T | CA381638036 | CPT1A | c.218T>A (p.Met73Lys) c.314T>A (p.Met105Lys) | |
| 11 | g.68812501T>A | CA381638039 | CPT1A | c.217A>T (p.Met73Leu) c.313A>T (p.Met105Leu) | |
| 11 | g.68812501T>C | CA381638041 | CPT1A | c.217A>G (p.Met73Val) c.313A>G (p.Met105Val) | |
| 11 | g.68812501T>G | CA381638040 | CPT1A | c.217A>C (p.Met73Leu) c.313A>C (p.Met105Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68812502C>A | CA6152745 | CPT1A | c.216G>T (p.Thr72=) c.312G>T (p.Thr104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812502C>G | CA475207529 | CPT1A | c.216G>C (p.Thr72=) c.312G>C (p.Thr104=) | |
| 11 | g.68812502C>T | CA6152744 | CPT1A | c.216G>A (p.Thr72=) c.312G>A (p.Thr104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68812503G>A | CA6152746 | CPT1A | c.215C>T (p.Thr72Met) c.311C>T (p.Thr104Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812503G>C | CA381638042 | CPT1A | c.215C>G (p.Thr72Arg) c.311C>G (p.Thr104Arg) | |
| 11 | g.68812503G>T | CA381638043 | CPT1A | c.215C>A (p.Thr72Lys) c.311C>A (p.Thr104Lys) | |
| 11 | g.68812504T>A | CA381638044 | CPT1A | c.214A>T (p.Thr72Ser) c.310A>T (p.Thr104Ser) | |
| 11 | g.68812504T>C | CA381638045 | CPT1A | c.214A>G (p.Thr72Ala) c.310A>G (p.Thr104Ala) | |
| 11 | g.68812504T>G | CA381638046 | CPT1A | c.214A>C (p.Thr72Pro) c.310A>C (p.Thr104Pro) | |
| 11 | g.68812505T>A | CA475207530 | CPT1A | c.213A>T (p.Thr71=) c.309A>T (p.Thr103=) | |
| 11 | g.68812505T>C | CA475207531 | CPT1A | c.213A>G (p.Thr71=) c.309A>G (p.Thr103=) | ClinVar |
| 11 | g.68812505T>G | CA475207532 | CPT1A | c.213A>C (p.Thr71=) c.309A>C (p.Thr103=) | |
| 11 | g.68812506G>A | CA381638047 | CPT1A | c.212C>T (p.Thr71Ile) c.308C>T (p.Thr103Ile) | |
| 11 | g.68812506G>C | CA381638048 | CPT1A | c.212C>G (p.Thr71Arg) c.308C>G (p.Thr103Arg) | |
| 11 | g.68812506G>T | CA381638049 | CPT1A | c.212C>A (p.Thr71Lys) c.308C>A (p.Thr103Lys) | |
| 11 | g.68812507T>A | CA381638052 | CPT1A | c.211A>T (p.Thr71Ser) c.307A>T (p.Thr103Ser) | |
| 11 | g.68812507T>C | CA381638051 | CPT1A | c.211A>G (p.Thr71Ala) c.307A>G (p.Thr103Ala) | ClinVar |
| 11 | g.68812507T>G | CA381638050 | CPT1A | c.211A>C (p.Thr71Pro) c.307A>C (p.Thr103Pro) | |
| 11 | g.68812508C>A | CA381638053 | CPT1A | c.210G>T (p.Met70Ile) c.306G>T (p.Met102Ile) | |
| 11 | g.68812508C>G | CA381638054 | CPT1A | c.210G>C (p.Met70Ile) c.306G>C (p.Met102Ile) | |
| 11 | g.68812508C>T | CA381638055 | CPT1A | c.210G>A (p.Met70Ile) c.306G>A (p.Met102Ile) | dbSNP |
| 11 | g.68812509A>C | CA381638056 | CPT1A | c.209T>G (p.Met70Arg) c.305T>G (p.Met102Arg) | dbSNP |
| 11 | g.68812509A>G | CA381638057 | CPT1A | c.209T>C (p.Met70Thr) c.305T>C (p.Met102Thr) | |
| 11 | g.68812509A>T | CA381638058 | CPT1A | c.209T>A (p.Met70Lys) c.305T>A (p.Met102Lys) | |
| 11 | g.68812510T>A | CA381638059 | CPT1A | c.208A>T (p.Met70Leu) c.304A>T (p.Met102Leu) | |
| 11 | g.68812510T>C | CA6152747 | CPT1A | c.208A>G (p.Met70Val) c.304A>G (p.Met102Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812510T>G | CA381638060 | CPT1A | c.208A>C (p.Met70Leu) c.304A>C (p.Met102Leu) | |
| 11 | g.68812511C>A | CA475207533 | CPT1A | c.207G>T (p.Val69=) c.303G>T (p.Val101=) | |
| 11 | g.68812511C>G | CA475207534 | CPT1A | c.207G>C (p.Val69=) c.303G>C (p.Val101=) | |
| 11 | g.68812511C>T | CA475207535 | CPT1A | c.207G>A (p.Val69=) c.303G>A (p.Val101=) | |
| 11 | g.68812512A>C | CA381638061 | CPT1A | c.206T>G (p.Val69Gly) c.302T>G (p.Val101Gly) | |
| 11 | g.68812512A>G | CA381638062 | CPT1A | c.206T>C (p.Val69Ala) c.302T>C (p.Val101Ala) | |
| 11 | g.68812512A>T | CA381638063 | CPT1A | c.206T>A (p.Val69Glu) c.302T>A (p.Val101Glu) | |
| 11 | g.68812513C>A | CA381638066 | CPT1A | c.205G>T (p.Val69Leu) c.301G>T (p.Val101Leu) | |
| 11 | g.68812513C>G | CA381638065 | CPT1A | c.205G>C (p.Val69Leu) c.301G>C (p.Val101Leu) | |
| 11 | g.68812513C>T | CA6152748 | CPT1A | c.205G>A (p.Val69Met) c.301G>A (p.Val101Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.68812514G>A | CA6152749 | CPT1A | c.204C>T (p.Gly68=) c.300C>T (p.Gly100=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812514G>C | CA475207536 | CPT1A | c.204C>G (p.Gly68=) c.300C>G (p.Gly100=) | |
| 11 | g.68812514G>T | CA475207537 | CPT1A | c.204C>A (p.Gly68=) c.300C>A (p.Gly100=) | |
| 11 | g.68812515C>A | CA381638067 | CPT1A | c.203G>T (p.Gly68Val) c.299G>T (p.Gly100Val) | dbSNP gnomAD v2 |
| 11 | g.68812515C>G | CA381638068 | CPT1A | c.203G>C (p.Gly68Ala) c.299G>C (p.Gly100Ala) | |
| 11 | g.68812515C>T | CA381638069 | CPT1A | c.203G>A (p.Gly68Asp) c.299G>A (p.Gly100Asp) | |
| 11 | g.68812517_68812520del | CA912972995 | CPT1A | c.200_203del (p.Val67AlafsTer2) c.296_299del (p.Val99AlafsTer2) | |
| 11 | g.68812516C>A | CA381638070 | CPT1A | c.202G>T (p.Gly68Cys) c.298G>T (p.Gly100Cys) | |
| 11 | g.68812516C>G | CA381638071 | CPT1A | c.202G>C (p.Gly68Arg) c.298G>C (p.Gly100Arg) | |
| 11 | g.68812516C>T | CA381638072 | CPT1A | c.202G>A (p.Gly68Ser) c.298G>A (p.Gly100Ser) | |
| 11 | g.68812523_68812525del | CA658822718 | CPT1A | c.200_202del (p.Val67del) c.296_298del (p.Val99del) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68812517C>A | CA475207538 | CPT1A | c.201G>T (p.Val67=) c.297G>T (p.Val99=) | |
| 11 | g.68812517C>G | CA475207539 | CPT1A | c.201G>C (p.Val67=) c.297G>C (p.Val99=) | |
| 11 | g.68812517C>T | CA475207540 | CPT1A | c.201G>A (p.Val67=) c.297G>A (p.Val99=) | dbSNP gnomAD v4 |
| 11 | g.68812518A>C | CA381638073 | CPT1A | c.200T>G (p.Val67Gly) c.296T>G (p.Val99Gly) | |
| 11 | g.68812518A>G | CA381638074 | CPT1A | c.200T>C (p.Val67Ala) c.296T>C (p.Val99Ala) | |
| 11 | g.68812518A>T | CA381638075 | CPT1A | c.200T>A (p.Val67Glu) c.296T>A (p.Val99Glu) | |
| 11 | g.68812519C>A | CA381638076 | CPT1A | c.199G>T (p.Val67Leu) c.295G>T (p.Val99Leu) | |
| 11 | g.68812519C>G | CA381638077 | CPT1A | c.199G>C (p.Val67Leu) c.295G>C (p.Val99Leu) | |
| 11 | g.68812519C>T | CA381638078 | CPT1A | c.199G>A (p.Val67Met) c.295G>A (p.Val99Met) | dbSNP gnomAD v4 |
| 11 | g.68812520C>A | CA475207542 | CPT1A | c.198G>T (p.Val66=) c.294G>T (p.Val98=) | ClinVar gnomAD v4 |
| 11 | g.68812520C>G | CA475207543 | CPT1A | c.198G>C (p.Val66=) c.294G>C (p.Val98=) | |
| 11 | g.68812520C>T | CA475207541 | CPT1A | c.198G>A (p.Val66=) c.294G>A (p.Val98=) | gnomAD v4 |
| 11 | g.68812521A>C | CA381638081 | CPT1A | c.197T>G (p.Val66Gly) c.293T>G (p.Val98Gly) | |
| 11 | g.68812521A>G | CA381638079 | CPT1A | c.197T>C (p.Val66Ala) c.293T>C (p.Val98Ala) | gnomAD v4 |
| 11 | g.68812521A>T | CA381638080 | CPT1A | c.197T>A (p.Val66Glu) c.293T>A (p.Val98Glu) | |
| 11 | g.68812522C>A | CA381638082 | CPT1A | c.196G>T (p.Val66Leu) c.292G>T (p.Val98Leu) | gnomAD v4 |
| 11 | g.68812522C>G | CA381638083 | CPT1A | c.196G>C (p.Val66Leu) c.292G>C (p.Val98Leu) | gnomAD v4 |
| 11 | g.68812522C>T | CA381638084 | CPT1A | c.196G>A (p.Val66Met) c.292G>A (p.Val98Met) | gnomAD v4 |
| 11 | g.68812523C>A | CA475207544 | CPT1A | c.195G>T (p.Val65=) c.291G>T (p.Val97=) | |
| 11 | g.68812523C>G | CA475207546 | CPT1A | c.195G>C (p.Val65=) c.291G>C (p.Val97=) | |
| 11 | g.68812523C>T | CA475207545 | CPT1A | c.195G>A (p.Val65=) c.291G>A (p.Val97=) | gnomAD v4 |
| 11 | g.68812524A>C | CA381638085 | CPT1A | c.194T>G (p.Val65Gly) c.290T>G (p.Val97Gly) | |
| 11 | g.68812524A>G | CA233852 | CPT1A | c.194T>C (p.Val65Ala) c.290T>C (p.Val97Ala) | ClinVar dbSNP |
| 11 | g.68812524A>T | CA381638086 | CPT1A | c.194T>A (p.Val65Glu) c.290T>A (p.Val97Glu) | |
| 11 | g.68812525C>A | CA381638087 | CPT1A | c.193G>T (p.Val65Leu) c.289G>T (p.Val97Leu) | |
| 11 | g.68812525C>G | CA381638088 | CPT1A | c.193G>C (p.Val65Leu) c.289G>C (p.Val97Leu) | |
| 11 | g.68812525C>T | CA6152750 | CPT1A | c.193G>A (p.Val65Met) c.289G>A (p.Val97Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812526G>A | CA6152751 | CPT1A | c.192C>T (p.Ile64=) c.288C>T (p.Ile96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812526G>C | CA381638089 | CPT1A | c.192C>G (p.Ile64Met) c.288C>G (p.Ile96Met) | |
| 11 | g.68812526G>T | CA475207547 | CPT1A | c.192C>A (p.Ile64=) c.288C>A (p.Ile96=) | |
| 11 | g.68812526_68812528del | CA2614738377 | CPT1A | c.190_192del (p.Ile64del) c.286_288del (p.Ile96del) | gnomAD v4 |
| 11 | g.68812527A>C | CA381638091 | CPT1A | c.191T>G (p.Ile64Ser) c.287T>G (p.Ile96Ser) | |
| 11 | g.68812527A>G | CA6152752 | CPT1A | c.191T>C (p.Ile64Thr) c.287T>C (p.Ile96Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812527A>T | CA381638090 | CPT1A | c.191T>A (p.Ile64Asn) c.287T>A (p.Ile96Asn) | |
| 11 | g.68812528T>A | CA381638092 | CPT1A | c.190A>T (p.Ile64Phe) c.286A>T (p.Ile96Phe) | gnomAD v4 |
| 11 | g.68812528T>C | CA381638094 | CPT1A | c.190A>G (p.Ile64Val) c.286A>G (p.Ile96Val) | |
| 11 | g.68812528T>G | CA381638093 | CPT1A | c.190A>C (p.Ile64Leu) c.286A>C (p.Ile96Leu) | dbSNP |
| 11 | g.68812529A>C | CA475207548 | CPT1A | c.189T>G (p.Leu63=) c.285T>G (p.Leu95=) | |
| 11 | g.68812529A>G | CA475207549 | CPT1A | c.189T>C (p.Leu63=) c.285T>C (p.Leu95=) | |
| 11 | g.68812529A>T | CA475207550 | CPT1A | c.189T>A (p.Leu63=) c.285T>A (p.Leu95=) | |
| 11 | g.68812530A>C | CA381638095 | CPT1A | c.188T>G (p.Leu63Arg) c.284T>G (p.Leu95Arg) | |
| 11 | g.68812530A>G | CA381638097 | CPT1A | c.188T>C (p.Leu63Pro) c.284T>C (p.Leu95Pro) | |
| 11 | g.68812530A>T | CA381638096 | CPT1A | c.188T>A (p.Leu63His) c.284T>A (p.Leu95His) | |
| 11 | g.68812531G>A | CA381638098 | CPT1A | c.187C>T (p.Leu63Phe) c.283C>T (p.Leu95Phe) | |
| 11 | g.68812531G>C | CA381638100 | CPT1A | c.187C>G (p.Leu63Val) c.283C>G (p.Leu95Val) | |
| 11 | g.68812531G>T | CA381638099 | CPT1A | c.187C>A (p.Leu63Ile) c.283C>A (p.Leu95Ile) | |
| 11 | g.68812532C>A | CA381638101 | CPT1A | c.186G>T (p.Trp62Cys) c.282G>T (p.Trp94Cys) | gnomAD v4 |
| 11 | g.68812532C>G | CA381638102 | CPT1A | c.186G>C (p.Trp62Cys) c.282G>C (p.Trp94Cys) | |
| 11 | g.68812532C>T | CA16041544 | CPT1A | c.186G>A (p.Trp62Ter) c.282G>A (p.Trp94Ter) | ClinVar dbSNP |
| 11 | g.68812533C>A | CA381638103 | CPT1A | c.185G>T (p.Trp62Leu) c.281G>T (p.Trp94Leu) | |
| 11 | g.68812533C>G | CA381638104 | CPT1A | c.185G>C (p.Trp62Ser) c.281G>C (p.Trp94Ser) | |
| 11 | g.68812533C>T | CA381638105 | CPT1A | c.185G>A (p.Trp62Ter) c.281G>A (p.Trp94Ter) | |
| 11 | g.68812534A>C | CA381638106 | CPT1A | c.184T>G (p.Trp62Gly) c.280T>G (p.Trp94Gly) | |
| 11 | g.68812534A>G | CA381638107 | CPT1A | c.184T>C (p.Trp62Arg) c.280T>C (p.Trp94Arg) | |
| 11 | g.68812534A>T | CA381638108 | CPT1A | c.184T>A (p.Trp62Arg) c.280T>A (p.Trp94Arg) | |
| 11 | g.68812535A>C | CA381638109 | CPT1A | c.183T>G (p.Ser61Arg) c.279T>G (p.Ser93Arg) | |
| 11 | g.68812535A>G | CA475207551 | CPT1A | c.183T>C (p.Ser61=) c.279T>C (p.Ser93=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68812535A>T | CA381638110 | CPT1A | c.183T>A (p.Ser61Arg) c.279T>A (p.Ser93Arg) | |
| 11 | g.68812536C>A | CA381638111 | CPT1A | c.182G>T (p.Ser61Ile) c.278G>T (p.Ser93Ile) | |
| 11 | g.68812536C>G | CA381638112 | CPT1A | c.182G>C (p.Ser61Thr) c.278G>C (p.Ser93Thr) | |
| 11 | g.68812536C>T | CA381638113 | CPT1A | c.182G>A (p.Ser61Asn) c.278G>A (p.Ser93Asn) | |
| 11 | g.68812537T>A | CA381638114 | CPT1A | c.181A>T (p.Ser61Cys) c.277A>T (p.Ser93Cys) | |
| 11 | g.68812537T>C | CA381638116 | CPT1A | c.181A>G (p.Ser61Gly) c.277A>G (p.Ser93Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812537T>G | CA381638115 | CPT1A | c.181A>C (p.Ser61Arg) c.277A>C (p.Ser93Arg) | COSMIC COSMIC |
| 11 | g.68812538G>A | CA475207552 | CPT1A | c.180C>T (p.Ser60=) c.276C>T (p.Ser92=) | |
| 11 | g.68812538G>C | CA475207553 | CPT1A | c.180C>G (p.Ser60=) c.276C>G (p.Ser92=) | |
| 11 | g.68812538G>T | CA475207554 | CPT1A | c.180C>A (p.Ser60=) c.276C>A (p.Ser92=) | |
| 11 | g.68812539G>A | CA381638117 | CPT1A | c.179C>T (p.Ser60Phe) c.275C>T (p.Ser92Phe) | |
| 11 | g.68812539G>C | CA381638118 | CPT1A | c.179C>G (p.Ser60Cys) c.275C>G (p.Ser92Cys) | |
| 11 | g.68812539G>T | CA381638119 | CPT1A | c.179C>A (p.Ser60Tyr) c.275C>A (p.Ser92Tyr) | |
| 11 | g.68812540A>C | CA381638120 | CPT1A | c.178T>G (p.Ser60Ala) c.274T>G (p.Ser92Ala) | |
| 11 | g.68812540A>G | CA381638121 | CPT1A | c.178T>C (p.Ser60Pro) c.274T>C (p.Ser92Pro) | |
| 11 | g.68812540A>T | CA381638122 | CPT1A | c.178T>A (p.Ser60Thr) c.274T>A (p.Ser92Thr) | |
| 11 | g.68812541G>A | CA475207555 | CPT1A | c.177C>T (p.Pro59=) c.273C>T (p.Pro91=) | |
| 11 | g.68812541G>C | CA475207556 | CPT1A | c.177C>G (p.Pro59=) c.273C>G (p.Pro91=) | |
| 11 | g.68812541G>T | CA475207557 | CPT1A | c.177C>A (p.Pro59=) c.273C>A (p.Pro91=) | |
| 11 | g.68812542G>A | CA6152753 | CPT1A | c.176C>T (p.Pro59Leu) c.272C>T (p.Pro91Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812542G>C | CA381638123 | CPT1A | c.176C>G (p.Pro59Arg) c.272C>G (p.Pro91Arg) | |
| 11 | g.68812542G>T | CA381638124 | CPT1A | c.176C>A (p.Pro59His) c.272C>A (p.Pro91His) | gnomAD v4 |
| 11 | g.68812543G>A | CA6152754 | CPT1A | c.175C>T (p.Pro59Ser) c.271C>T (p.Pro91Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812543G>C | CA381638126 | CPT1A | c.175C>G (p.Pro59Ala) c.271C>G (p.Pro91Ala) | gnomAD v4 |
| 11 | g.68812543G>T | CA381638125 | CPT1A | c.175C>A (p.Pro59Thr) c.271C>A (p.Pro91Thr) | |
| 11 | g.68812544G>A | CA475207559 | CPT1A | c.174C>T (p.Ser58=) c.270C>T (p.Ser90=) | |
| 11 | g.68812544G>C | CA381638127 | CPT1A | c.174C>G (p.Ser58Arg) c.270C>G (p.Ser90Arg) | |
| 11 | g.68812544G>T | CA381638128 | CPT1A | c.174C>A (p.Ser58Arg) c.270C>A (p.Ser90Arg) | |
| 11 | g.68812545C>A | CA381638129 | CPT1A | c.173G>T (p.Ser58Ile) c.269G>T (p.Ser90Ile) | |
| 11 | g.68812545C>G | CA381638130 | CPT1A | c.173G>C (p.Ser58Thr) c.269G>C (p.Ser90Thr) | |
| 11 | g.68812545C>T | CA381638131 | CPT1A | c.173G>A (p.Ser58Asn) c.269G>A (p.Ser90Asn) | |
| 11 | g.68812546T>A | CA381638132 | CPT1A | c.172A>T (p.Ser58Cys) c.268A>T (p.Ser90Cys) | |
| 11 | g.68812546T>C | CA6152755 | CPT1A | c.172A>G (p.Ser58Gly) c.268A>G (p.Ser90Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812546T>G | CA381638133 | CPT1A | c.172A>C (p.Ser58Arg) c.268A>C (p.Ser90Arg) | |
| 11 | g.68812547T>A | CA475207560 | CPT1A | c.171A>T (p.Ala57=) c.267A>T (p.Ala89=) | |
| 11 | g.68812547T>C | CA6152756 | CPT1A | c.171A>G (p.Ala57=) c.267A>G (p.Ala89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812547T>G | CA475207562 | CPT1A | c.171A>C (p.Ala57=) c.267A>C (p.Ala89=) | |
| 11 | g.68812548G>A | CA381638134 | CPT1A | c.170C>T (p.Ala57Val) c.266C>T (p.Ala89Val) | |
| 11 | g.68812548G>C | CA381638135 | CPT1A | c.170C>G (p.Ala57Gly) c.266C>G (p.Ala89Gly) | |
| 11 | g.68812548G>T | CA381638136 | CPT1A | c.170C>A (p.Ala57Glu) c.266C>A (p.Ala89Glu) | |
| 11 | g.68812549C>A | CA381638139 | CPT1A | c.169G>T (p.Ala57Ser) c.265G>T (p.Ala89Ser) | |
| 11 | g.68812549C>G | CA381638137 | CPT1A | c.169G>C (p.Ala57Pro) c.265G>C (p.Ala89Pro) | |
| 11 | g.68812549C>T | CA381638138 | CPT1A | c.169G>A (p.Ala57Thr) c.265G>A (p.Ala89Thr) | |
| 11 | g.68812550C>A | CA475207563 | CPT1A | c.168G>T (p.Pro56=) c.264G>T (p.Pro88=) | ClinVar |
| 11 | g.68812550C>G | CA475207564 | CPT1A | c.168G>C (p.Pro56=) c.264G>C (p.Pro88=) | ClinVar |
| 11 | g.68812550C>T | CA6152757 | CPT1A | c.168G>A (p.Pro56=) c.264G>A (p.Pro88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812558_68812559insTGCGGGTACAC | CA2497319870 | CPT1A | c.168_169insCAGTGTACCCG (p.Ala57GlnfsTer17) c.264_265insCAGTGTACCCG (p.Ala89GlnfsTer17) | dbSNP |
| 11 | g.68812551G>A | CA381638140 | CPT1A | c.167C>T (p.Pro56Leu) c.263C>T (p.Pro88Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812551G>C | CA381638141 | CPT1A | c.167C>G (p.Pro56Arg) c.263C>G (p.Pro88Arg) | |
| 11 | g.68812551G>T | CA381638142 | CPT1A | c.167C>A (p.Pro56Gln) c.263C>A (p.Pro88Gln) |