| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68794866C>A | CA381634597 | CPT1A | c.817G>T (p.Gly273Cys) c.73G>T (p.Gly25Cys) c.913G>T (p.Gly305Cys) | |
| 11 | g.68794866C>G | CA381634599 | CPT1A | c.817G>C (p.Gly273Arg) c.73G>C (p.Gly25Arg) c.913G>C (p.Gly305Arg) | |
| 11 | g.68794866C>T | CA6152513 | CPT1A | c.817G>A (p.Gly273Ser) c.73G>A (p.Gly25Ser) c.913G>A (p.Gly305Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68794867_68794869dup | CA2497319740 | CPT1A | c.815_817dup (p.Ala272_Gly273insAla) c.71_73dup (p.Ala24_Gly25insAla) c.911_913dup (p.Ala304_Gly305insAla) | dbSNP |
| 11 | g.68794867G>A | CA6152514 | CPT1A | c.816C>T (p.Ala272=) c.72C>T (p.Ala24=) c.912C>T (p.Ala304=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68794867G>C | CA475203970 | CPT1A | c.816C>G (p.Ala272=) c.72C>G (p.Ala24=) c.912C>G (p.Ala304=) | |
| 11 | g.68794867G>T | CA475203973 | CPT1A | c.816C>A (p.Ala272=) c.72C>A (p.Ala24=) c.912C>A (p.Ala304=) | |
| 11 | g.68794868dup | CA2976665916 | CPT1A | c.816dup (p.Gly273ArgfsTer?) c.72dup (p.Gly25ArgfsTer?) c.912dup (p.Gly305ArgfsTer?) | |
| 11 | g.68794868G>A | CA381634602 | CPT1A | c.815C>T (p.Ala272Val) c.71C>T (p.Ala24Val) c.911C>T (p.Ala304Val) | |
| 11 | g.68794868G>C | CA381634604 | CPT1A | c.815C>G (p.Ala272Gly) c.71C>G (p.Ala24Gly) c.911C>G (p.Ala304Gly) | |
| 11 | g.68794868G>T | CA381634607 | CPT1A | c.815C>A (p.Ala272Asp) c.71C>A (p.Ala24Asp) c.911C>A (p.Ala304Asp) | |
| 11 | g.68794869C>A | CA381634613 | CPT1A | c.814G>T (p.Ala272Ser) c.70G>T (p.Ala24Ser) c.910G>T (p.Ala304Ser) | |
| 11 | g.68794869C>G | CA381634611 | CPT1A | c.814G>C (p.Ala272Pro) c.70G>C (p.Ala24Pro) c.910G>C (p.Ala304Pro) | |
| 11 | g.68794869C>T | CA381634609 | CPT1A | c.814G>A (p.Ala272Thr) c.70G>A (p.Ala24Thr) c.910G>A (p.Ala304Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68794870T>A | CA381634614 | CPT1A | c.813A>T (p.Arg271Ser) c.69A>T (p.Arg23Ser) c.909A>T (p.Arg303Ser) | |
| 11 | g.68794870T>C | CA475203988 | CPT1A | c.813A>G (p.Arg271=) c.69A>G (p.Arg23=) c.909A>G (p.Arg303=) | |
| 11 | g.68794870T>G | CA381634616 | CPT1A | c.813A>C (p.Arg271Ser) c.69A>C (p.Arg23Ser) c.909A>C (p.Arg303Ser) | |
| 11 | g.68794871C>A | CA381634618 | CPT1A | c.812G>T (p.Arg271Ile) c.68G>T (p.Arg23Ile) c.908G>T (p.Arg303Ile) | |
| 11 | g.68794871C>G | CA381634620 | CPT1A | c.812G>C (p.Arg271Thr) c.68G>C (p.Arg23Thr) c.908G>C (p.Arg303Thr) | COSMIC COSMIC |
| 11 | g.68794871C>T | CA381634623 | CPT1A | c.812G>A (p.Arg271Lys) c.68G>A (p.Arg23Lys) c.908G>A (p.Arg303Lys) | COSMIC COSMIC |
| 11 | g.68794872T>A | CA381634625 | CPT1A | c.811A>T (p.Arg271Ter) c.67A>T (p.Arg23Ter) c.907A>T (p.Arg303Ter) | |
| 11 | g.68794872T>C | CA381634626 | CPT1A | c.811A>G (p.Arg271Gly) c.67A>G (p.Arg23Gly) c.907A>G (p.Arg303Gly) | ClinVar |
| 11 | g.68794872T>G | CA475204001 | CPT1A | c.811A>C (p.Arg271=) c.67A>C (p.Arg23=) c.907A>C (p.Arg303=) | |
| 11 | g.68794873T>A | CA475204004 | CPT1A | c.810A>T (p.Ala270=) c.66A>T (p.Ala22=) c.906A>T (p.Ala302=) | |
| 11 | g.68794873T>C | CA475204007 | CPT1A | c.810A>G (p.Ala270=) c.66A>G (p.Ala22=) c.906A>G (p.Ala302=) | |
| 11 | g.68794873T>G | CA475204009 | CPT1A | c.810A>C (p.Ala270=) c.66A>C (p.Ala22=) c.906A>C (p.Ala302=) | |
| 11 | g.68794874G>A | CA381634629 | CPT1A | c.809C>T (p.Ala270Val) c.65C>T (p.Ala22Val) c.905C>T (p.Ala302Val) | |
| 11 | g.68794874G>C | CA381634632 | CPT1A | c.809C>G (p.Ala270Gly) c.65C>G (p.Ala22Gly) c.905C>G (p.Ala302Gly) | |
| 11 | g.68794874G>T | CA381634634 | CPT1A | c.809C>A (p.Ala270Glu) c.65C>A (p.Ala22Glu) c.905C>A (p.Ala302Glu) | |
| 11 | g.68794875C>A | CA381634637 | CPT1A | c.808G>T (p.Ala270Ser) c.64G>T (p.Ala22Ser) c.904G>T (p.Ala302Ser) | |
| 11 | g.68794875C>G | CA381634640 | CPT1A | c.808G>C (p.Ala270Pro) c.64G>C (p.Ala22Pro) c.904G>C (p.Ala302Pro) | gnomAD v4 |
| 11 | g.68794875C>T | CA381634642 | CPT1A | c.808G>A (p.Ala270Thr) c.64G>A (p.Ala22Thr) c.904G>A (p.Ala302Thr) | |
| 11 | g.68794876T>A | CA475204024 | CPT1A | c.807A>T (p.Ala269=) c.63A>T (p.Ala21=) c.903A>T (p.Ala301=) | |
| 11 | g.68794876T>C | CA475204026 | CPT1A | c.807A>G (p.Ala269=) c.63A>G (p.Ala21=) c.903A>G (p.Ala301=) | |
| 11 | g.68794876T>G | CA475204027 | CPT1A | c.807A>C (p.Ala269=) c.63A>C (p.Ala21=) c.903A>C (p.Ala301=) | |
| 11 | g.68794877G>A | CA381634652 | CPT1A | c.806C>T (p.Ala269Val) c.62C>T (p.Ala21Val) c.902C>T (p.Ala301Val) | gnomAD v4 |
| 11 | g.68794877G>C | CA381634645 | CPT1A | c.806C>G (p.Ala269Gly) c.62C>G (p.Ala21Gly) c.902C>G (p.Ala301Gly) | |
| 11 | g.68794877G>T | CA381634646 | CPT1A | c.806C>A (p.Ala269Glu) c.62C>A (p.Ala21Glu) c.902C>A (p.Ala301Glu) | |
| 11 | g.68794878C>A | CA381634654 | CPT1A | c.805G>T (p.Ala269Ser) c.61G>T (p.Ala21Ser) c.901G>T (p.Ala301Ser) | dbSNP |
| 11 | g.68794878C>G | CA381634658 | CPT1A | c.805G>C (p.Ala269Pro) c.61G>C (p.Ala21Pro) c.901G>C (p.Ala301Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68794878C>T | CA381634656 | CPT1A | c.805G>A (p.Ala269Thr) c.61G>A (p.Ala21Thr) c.901G>A (p.Ala301Thr) | |
| 11 | g.68794879C>A | CA381634660 | CPT1A | c.804G>T (p.Gln268His) c.60G>T (p.Gln20His) c.900G>T (p.Gln300His) | |
| 11 | g.68794879C>G | CA381634661 | CPT1A | c.804G>C (p.Gln268His) c.60G>C (p.Gln20His) c.900G>C (p.Gln300His) | |
| 11 | g.68794879C>T | CA475204046 | CPT1A | c.804G>A (p.Gln268=) c.60G>A (p.Gln20=) c.900G>A (p.Gln300=) | ClinVar |
| 11 | g.68794880T>A | CA381634663 | CPT1A | c.803A>T (p.Gln268Leu) c.59A>T (p.Gln20Leu) c.899A>T (p.Gln300Leu) | |
| 11 | g.68794880T>C | CA381634667 | CPT1A | c.803A>G (p.Gln268Arg) c.59A>G (p.Gln20Arg) c.899A>G (p.Gln300Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68794880T>G | CA381634665 | CPT1A | c.803A>C (p.Gln268Pro) c.59A>C (p.Gln20Pro) c.899A>C (p.Gln300Pro) | |
| 11 | g.68794881G>A | CA381634668 | CPT1A | c.802C>T (p.Gln268Ter) c.58C>T (p.Gln20Ter) c.898C>T (p.Gln300Ter) | |
| 11 | g.68794881G>C | CA381634670 | CPT1A | c.802C>G (p.Gln268Glu) c.58C>G (p.Gln20Glu) c.898C>G (p.Gln300Glu) | |
| 11 | g.68794881G>T | CA381634669 | CPT1A | c.802C>A (p.Gln268Lys) c.58C>A (p.Gln20Lys) c.898C>A (p.Gln300Lys) |