| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68812479_68812499del | CA2497319869 | CPT1A | c.221_241del (p.Tyr74_Ser80del) c.317_337del (p.Tyr106_Ser112del) | ClinVar dbSNP |
| 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) | |
| 11 | g.68812552G>A | CA381638143 | CPT1A | c.166C>T (p.Pro56Ser) c.262C>T (p.Pro88Ser) | COSMIC COSMIC |
| 11 | g.68812552G>C | CA381638144 | CPT1A | c.166C>G (p.Pro56Ala) c.262C>G (p.Pro88Ala) | |
| 11 | g.68812552G>T | CA381638145 | CPT1A | c.166C>A (p.Pro56Thr) c.262C>A (p.Pro88Thr) | |
| 11 | g.68812553G>A | CA223400336 | CPT1A | c.165C>T (p.Tyr55=) c.261C>T (p.Tyr87=) | ClinVar dbSNP |
| 11 | g.68812553G>C | CA381638146 | CPT1A | c.165C>G (p.Tyr55Ter) c.261C>G (p.Tyr87Ter) | |
| 11 | g.68812553G>T | CA381638147 | CPT1A | c.165C>A (p.Tyr55Ter) c.261C>A (p.Tyr87Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68812554T>A | CA381638148 | CPT1A | c.164A>T (p.Tyr55Phe) c.260A>T (p.Tyr87Phe) | |
| 11 | g.68812554T>C | CA381638149 | CPT1A | c.164A>G (p.Tyr55Cys) c.260A>G (p.Tyr87Cys) | |
| 11 | g.68812554T>G | CA381638150 | CPT1A | c.164A>C (p.Tyr55Ser) c.260A>C (p.Tyr87Ser) | dbSNP |
| 11 | g.68812555A>C | CA381638152 | CPT1A | c.163T>G (p.Tyr55Asp) c.259T>G (p.Tyr87Asp) | |
| 11 | g.68812555A>G | CA381638153 | CPT1A | c.163T>C (p.Tyr55His) c.259T>C (p.Tyr87His) | ClinVar |
| 11 | g.68812555A>T | CA381638151 | CPT1A | c.163T>A (p.Tyr55Asn) c.259T>A (p.Tyr87Asn) | |
| 11 | g.68812556C>A | CA475207565 | CPT1A | c.162G>T (p.Val54=) c.258G>T (p.Val86=) | |
| 11 | g.68812556C>G | CA475207566 | CPT1A | c.162G>C (p.Val54=) c.258G>C (p.Val86=) | |
| 11 | g.68812556C>T | CA475207567 | CPT1A | c.162G>A (p.Val54=) c.258G>A (p.Val86=) | |
| 11 | g.68812557A>C | CA381638156 | CPT1A | c.161T>G (p.Val54Gly) c.257T>G (p.Val86Gly) | dbSNP gnomAD v4 |
| 11 | g.68812557A>G | CA381638154 | CPT1A | c.161T>C (p.Val54Ala) c.257T>C (p.Val86Ala) | |
| 11 | g.68812557A>T | CA381638155 | CPT1A | c.161T>A (p.Val54Glu) c.257T>A (p.Val86Glu) | |
| 11 | g.68812558C>A | CA6152758 | CPT1A | c.160G>T (p.Val54Leu) c.256G>T (p.Val86Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812558C= | CA2581028876 | CPT1A | c.160G= (p.Val54=) c.256G= (p.Val86=) | |
| 11 | g.68812558C>G | CA381638157 | CPT1A | c.160G>C (p.Val54Leu) c.256G>C (p.Val86Leu) | dbSNP gnomAD v4 |
| 11 | g.68812558C>T | CA6152759 | CPT1A | c.160G>A (p.Val54Met) c.256G>A (p.Val86Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812559G>A | CA6152760 | CPT1A | c.159C>T (p.Gly53=) c.255C>T (p.Gly85=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812559G>C | CA475207568 | CPT1A | c.159C>G (p.Gly53=) c.255C>G (p.Gly85=) | |
| 11 | g.68812559G>T | CA223400351 | CPT1A | c.159C>A (p.Gly53=) c.255C>A (p.Gly85=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68812560C>A | CA381638158 | CPT1A | c.158G>T (p.Gly53Val) c.254G>T (p.Gly85Val) | |
| 11 | g.68812560C>G | CA381638159 | CPT1A | c.158G>C (p.Gly53Ala) c.254G>C (p.Gly85Ala) | |
| 11 | g.68812560C>T | CA381638160 | CPT1A | c.158G>A (p.Gly53Asp) c.254G>A (p.Gly85Asp) | |
| 11 | g.68812561C>A | CA381638161 | CPT1A | c.157G>T (p.Gly53Cys) c.253G>T (p.Gly85Cys) | |
| 11 | g.68812561C>G | CA381638162 | CPT1A | c.157G>C (p.Gly53Arg) c.253G>C (p.Gly85Arg) | |
| 11 | g.68812561C>T | CA381638163 | CPT1A | c.157G>A (p.Gly53Ser) c.253G>A (p.Gly85Ser) | gnomAD v4 |
| 11 | g.68812562A>C | CA475207569 | CPT1A | c.156T>G (p.Thr52=) c.252T>G (p.Thr84=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812562A>G | CA475207570 | CPT1A | c.156T>C (p.Thr52=) c.252T>C (p.Thr84=) | |
| 11 | g.68812562A>T | CA475207571 | CPT1A | c.156T>A (p.Thr52=) c.252T>A (p.Thr84=) | |
| 11 | g.68812563G>A | CA381638166 | CPT1A | c.155C>T (p.Thr52Ile) c.251C>T (p.Thr84Ile) | |
| 11 | g.68812563G>C | CA381638164 | CPT1A | c.155C>G (p.Thr52Ser) c.251C>G (p.Thr84Ser) | |
| 11 | g.68812563G>T | CA381638165 | CPT1A | c.155C>A (p.Thr52Asn) c.251C>A (p.Thr84Asn) | |
| 11 | g.68812564T>A | CA381638167 | CPT1A | c.154A>T (p.Thr52Ser) c.250A>T (p.Thr84Ser) | |
| 11 | g.68812564T>C | CA6152761 | CPT1A | c.154A>G (p.Thr52Ala) c.250A>G (p.Thr84Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812564T>G | CA381638168 | CPT1A | c.154A>C (p.Thr52Pro) c.250A>C (p.Thr84Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812565G>A | CA475207572 | CPT1A | c.153C>T (p.Ile51=) c.249C>T (p.Ile83=) | ClinVar |
| 11 | g.68812565G>C | CA381638169 | CPT1A | c.153C>G (p.Ile51Met) c.249C>G (p.Ile83Met) | |
| 11 | g.68812565G>T | CA475207573 | CPT1A | c.153C>A (p.Ile51=) c.249C>A (p.Ile83=) | |
| 11 | g.68812565_68812566insT | CA2614738517 | CPT1A | c.152_153insA (p.Thr52HisfsTer?) c.248_249insA (p.Thr84HisfsTer?) | gnomAD v4 |
| 11 | g.68812565_68812566insTACACAC | CA599992831 | CPT1A | c.152_153insGTGTGTA (p.Ile51MetfsTer?) c.248_249insGTGTGTA (p.Ile83MetfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812566A>C | CA381638170 | CPT1A | c.152T>G (p.Ile51Ser) c.248T>G (p.Ile83Ser) | |
| 11 | g.68812566A>G | CA381638171 | CPT1A | c.152T>C (p.Ile51Thr) c.248T>C (p.Ile83Thr) | gnomAD v4 |
| 11 | g.68812566A>T | CA381638172 | CPT1A | c.152T>A (p.Ile51Asn) c.248T>A (p.Ile83Asn) | |
| 11 | g.68812570_68812633del | CA2614738515 | CPT1A | c.142-53_152del c.238-53_248del | gnomAD v4 |
| 11 | g.68812566_68812567insGATTTCAACAAATCTCAGAAAACCTTGAATC | CA2614738518 | CPT1A | c.151_152insGATTCAAGGTTTTCTGAGATTTGTTGAAATC (p.Ile51ArgfsTer6) c.247_248insGATTCAAGGTTTTCTGAGATTTGTTGAAATC (p.Ile83ArgfsTer6) | gnomAD v4 |
| 11 | g.68812567T>A | CA381638173 | CPT1A | c.151A>T (p.Ile51Phe) c.247A>T (p.Ile83Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812567T>C | CA381638174 | CPT1A | c.151A>G (p.Ile51Val) c.247A>G (p.Ile83Val) | dbSNP gnomAD v4 |
| 11 | g.68812567T>G | CA381638175 | CPT1A | c.151A>C (p.Ile51Leu) c.247A>C (p.Ile83Leu) | |
| 11 | g.68812567dup | CA2580084769 | CPT1A | c.151dup (p.Ile51AsnfsTer?) c.247dup (p.Ile83AsnfsTer?) | ClinVar |
| 11 | g.68812568G>A | CA475207574 | CPT1A | c.150C>T (p.Ile50=) c.246C>T (p.Ile82=) | |
| 11 | g.68812568G>C | CA381638176 | CPT1A | c.150C>G (p.Ile50Met) c.246C>G (p.Ile82Met) | |
| 11 | g.68812568G>T | CA475207575 | CPT1A | c.150C>A (p.Ile50=) c.246C>A (p.Ile82=) | |
| 11 | g.68812569A>C | CA381638178 | CPT1A | c.149T>G (p.Ile50Ser) c.245T>G (p.Ile82Ser) | |
| 11 | g.68812569A>G | CA381638179 | CPT1A | c.149T>C (p.Ile50Thr) c.245T>C (p.Ile82Thr) | COSMIC COSMIC |
| 11 | g.68812569A>T | CA381638177 | CPT1A | c.149T>A (p.Ile50Asn) c.245T>A (p.Ile82Asn) | |
| 11 | g.68812569_68812576del | CA599992832 | CPT1A | c.142_149del (p.Asn48HisfsTer?) c.238_245del (p.Asn80HisfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812570T>A | CA381638180 | CPT1A | c.148A>T (p.Ile50Phe) c.244A>T (p.Ile82Phe) | dbSNP |
| 11 | g.68812570T>C | CA381638181 | CPT1A | c.148A>G (p.Ile50Val) c.244A>G (p.Ile82Val) | gnomAD v4 |
| 11 | g.68812570T>G | CA381638182 | CPT1A | c.148A>C (p.Ile50Leu) c.244A>C (p.Ile82Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812571G>A | CA475207577 | CPT1A | c.147C>T (p.Gly49=) c.243C>T (p.Gly81=) | dbSNP gnomAD v4 |
| 11 | g.68812571G>C | CA6152762 | CPT1A | c.147C>G (p.Gly49=) c.243C>G (p.Gly81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812571G>T | CA6152763 | CPT1A | c.147C>A (p.Gly49=) c.243C>A (p.Gly81=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812571_68812572insAA | CA2614738519 | CPT1A | c.146_147insTT (p.Ile50SerfsTer21) c.242_243insTT (p.Ile82SerfsTer21) | gnomAD v4 |
| 11 | g.68812572C>A | CA381638185 | CPT1A | c.146G>T (p.Gly49Val) c.242G>T (p.Gly81Val) | |
| 11 | g.68812572C>G | CA381638184 | CPT1A | c.146G>C (p.Gly49Ala) c.242G>C (p.Gly81Ala) | |
| 11 | g.68812572C>T | CA381638183 | CPT1A | c.146G>A (p.Gly49Asp) c.242G>A (p.Gly81Asp) | dbSNP gnomAD v2 |
| 11 | g.68812573C>A | CA381638186 | CPT1A | c.145G>T (p.Gly49Cys) c.241G>T (p.Gly81Cys) | |
| 11 | g.68812573C>G | CA381638187 | CPT1A | c.145G>C (p.Gly49Arg) c.241G>C (p.Gly81Arg) | |
| 11 | g.68812573C>T | CA6152764 | CPT1A | c.145G>A (p.Gly49Ser) c.241G>A (p.Gly81Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812573_68812574del | CA2614738521 | CPT1A | c.144_145del (p.Asn48LysfsTer?) c.240_241del (p.Asn80LysfsTer?) | gnomAD v4 |
| 11 | g.68812574G>A | CA6152765 | CPT1A | c.144C>T (p.Asn48=) c.240C>T (p.Asn80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812574G>C | CA381638188 | CPT1A | c.144C>G (p.Asn48Lys) c.240C>G (p.Asn80Lys) | gnomAD v4 |
| 11 | g.68812574G>T | CA381638189 | CPT1A | c.144C>A (p.Asn48Lys) c.240C>A (p.Asn80Lys) | |
| 11 | g.68812575T>A | CA381638190 | CPT1A | c.143A>T (p.Asn48Ile) c.239A>T (p.Asn80Ile) | |
| 11 | g.68812575T>C | CA381638192 | CPT1A | c.143A>G (p.Asn48Ser) c.239A>G (p.Asn80Ser) | dbSNP gnomAD v4 |
| 11 | g.68812575T>G | CA381638191 | CPT1A | c.143A>C (p.Asn48Thr) c.239A>C (p.Asn80Thr) | |
| 11 | g.68812576T>A | CA381638193 | CPT1A | c.142A>T (p.Asn48Tyr) c.238A>T (p.Asn80Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812576T>C | CA381638194 | CPT1A | c.142A>G (p.Asn48Asp) c.238A>G (p.Asn80Asp) | dbSNP |
| 11 | g.68812576T>G | CA381638195 | CPT1A | c.142A>C (p.Asn48His) c.238A>C (p.Asn80His) | |
| 11 | g.68812577C>A | CA381638196 | CPT1A | c.142-1G>T (n.142-1G>T) c.238-1G>T (n.238-1G>T) | |
| 11 | g.68812577C>G | CA381638197 | CPT1A | c.142-1G>C (n.142-1G>C) c.238-1G>C (n.238-1G>C) | |
| 11 | g.68812577C>T | CA381638198 | CPT1A | c.142-1G>A (n.142-1G>A) c.238-1G>A (n.238-1G>A) | |
| 11 | g.68812578T>A | CA381638199 | CPT1A | c.142-2A>T (n.142-2A>T) c.238-2A>T (n.238-2A>T) | |
| 11 | g.68812578T>C | CA381638200 | CPT1A | c.142-2A>G (n.142-2A>G) c.238-2A>G (n.238-2A>G) | |
| 11 | g.68812578T>G | CA381638201 | CPT1A | c.142-2A>C (n.142-2A>C) c.238-2A>C (n.238-2A>C) | |
| 11 | g.68812579A>G | CA599992833 | CPT1A | c.142-3T>C (n.142-3T>C) c.238-3T>C (n.238-3T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812580A>C | CA2574903520 | CPT1A | c.142-4T>G (n.142-4T>G) c.238-4T>G (n.238-4T>G) | |
| 11 | g.68812582G>A | CA2574903521 | CPT1A | c.142-6C>T (n.142-6C>T) c.238-6C>T (n.238-6C>T) | |
| 11 | g.68812584C>T | CA2724296260 | CPT1A | c.142-8G>A (n.142-8G>A) c.238-8G>A (n.238-8G>A) | dbSNP |
| 11 | g.68812586G>A | CA2740093095 | CPT1A | c.142-10C>T (n.142-10C>T) c.238-10C>T (n.238-10C>T) | ClinVar |
| 11 | g.68812588C>T | CA6152766 | CPT1A | c.142-12G>A (n.142-12G>A) c.238-12G>A (n.238-12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812589del | CA599992834 | CPT1A | c.142-13del (n.142-13del) c.238-13del (n.238-13del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812589A>C | CA2614738545 | CPT1A | c.142-13T>G (n.142-13T>G) c.238-13T>G (n.238-13T>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68812589A>G | CA223400425 | CPT1A | c.142-13T>C (n.142-13T>C) c.238-13T>C (n.238-13T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812589A>T | CA2574903522 | CPT1A | c.142-13T>A (n.142-13T>A) c.238-13T>A (n.238-13T>A) | gnomAD v4 |
| 11 | g.68812590C>A | CA6152768 | CPT1A | c.142-14G>T (n.142-14G>T) c.238-14G>T (n.238-14G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812590C>T | CA6152767 | CPT1A | c.142-14G>A (n.142-14G>A) c.238-14G>A (n.238-14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |