Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68794852A>C | CA381634536 | CPT1A | c.831T>G (p.His277Gln) c.87T>G (p.His29Gln) c.927T>G (p.His309Gln) | |
11 | g.68794852A>G | CA475203870 | CPT1A | c.831T>C (p.His277=) c.87T>C (p.His29=) c.927T>C (p.His309=) | |
11 | g.68794852A>T | CA381634537 | CPT1A | c.831T>A (p.His277Gln) c.87T>A (p.His29Gln) c.927T>A (p.His309Gln) | |
11 | g.68794853T>A | CA381634538 | CPT1A | c.830A>T (p.His277Leu) c.86A>T (p.His29Leu) c.926A>T (p.His309Leu) | |
11 | g.68794853T>C | CA381634539 | CPT1A | c.830A>G (p.His277Arg) c.86A>G (p.His29Arg) c.926A>G (p.His309Arg) | gnomAD v4 |
11 | g.68794853T>G | CA381634540 | CPT1A | c.830A>C (p.His277Pro) c.86A>C (p.His29Pro) c.926A>C (p.His309Pro) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68794854G>A | CA381634541 | CPT1A | c.829C>T (p.His277Tyr) c.85C>T (p.His29Tyr) c.925C>T (p.His309Tyr) | gnomAD v4 |
11 | g.68794854G>C | CA381634543 | CPT1A | c.829C>G (p.His277Asp) c.85C>G (p.His29Asp) c.925C>G (p.His309Asp) | |
11 | g.68794854G>T | CA381634545 | CPT1A | c.829C>A (p.His277Asn) c.85C>A (p.His29Asn) c.925C>A (p.His309Asn) | |
11 | g.68794855G>A | CA475203897 | CPT1A | c.828C>T (p.Ile276=) c.84C>T (p.Ile28=) c.924C>T (p.Ile308=) | |
11 | g.68794855G>C | CA381634547 | CPT1A | c.828C>G (p.Ile276Met) c.84C>G (p.Ile28Met) c.924C>G (p.Ile308Met) | |
11 | g.68794855G>T | CA475203902 | CPT1A | c.828C>A (p.Ile276=) c.84C>A (p.Ile28=) c.924C>A (p.Ile308=) | |
11 | g.68794856A>C | CA381634549 | CPT1A | c.827T>G (p.Ile276Ser) c.83T>G (p.Ile28Ser) c.923T>G (p.Ile308Ser) | |
11 | g.68794856A>G | CA381634551 | CPT1A | c.827T>C (p.Ile276Thr) c.83T>C (p.Ile28Thr) c.923T>C (p.Ile308Thr) | |
11 | g.68794856A>T | CA381634553 | CPT1A | c.827T>A (p.Ile276Asn) c.83T>A (p.Ile28Asn) c.923T>A (p.Ile308Asn) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68794857T>A | CA381634555 | CPT1A | c.826A>T (p.Ile276Phe) c.82A>T (p.Ile28Phe) c.922A>T (p.Ile308Phe) | |
11 | g.68794857T>C | CA381634559 | CPT1A | c.826A>G (p.Ile276Val) c.82A>G (p.Ile28Val) c.922A>G (p.Ile308Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68794857T>G | CA381634557 | CPT1A | c.826A>C (p.Ile276Leu) c.82A>C (p.Ile28Leu) c.922A>C (p.Ile308Leu) | |
11 | g.68794858G>A | CA6152511 | CPT1A | c.825C>T (p.Ala275=) c.81C>T (p.Ala27=) c.921C>T (p.Ala307=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68794858G>C | CA475203916 | CPT1A | c.825C>G (p.Ala275=) c.81C>G (p.Ala27=) c.921C>G (p.Ala307=) | |
11 | g.68794858G>T | CA475203918 | CPT1A | c.825C>A (p.Ala275=) c.81C>A (p.Ala27=) c.921C>A (p.Ala307=) | gnomAD v4 |
11 | g.68794859G>A | CA381634562 | CPT1A | c.824C>T (p.Ala275Val) c.80C>T (p.Ala27Val) c.920C>T (p.Ala307Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68794859G>C | CA381634565 | CPT1A | c.824C>G (p.Ala275Gly) c.80C>G (p.Ala27Gly) c.920C>G (p.Ala307Gly) | |
11 | g.68794859G>T | CA381634567 | CPT1A | c.824C>A (p.Ala275Asp) c.80C>A (p.Ala27Asp) c.920C>A (p.Ala307Asp) | |
11 | g.68794860C>A | CA381634569 | CPT1A | c.823G>T (p.Ala275Ser) c.79G>T (p.Ala27Ser) c.919G>T (p.Ala307Ser) | |
11 | g.68794860C= | CA2497029805 | CPT1A | c.823G= (p.Ala275=) c.79G= (p.Ala27=) c.919G= (p.Ala307=) | |
11 | g.68794860C>G | CA223386118 | CPT1A | c.823G>C (p.Ala275Pro) c.79G>C (p.Ala27Pro) c.919G>C (p.Ala307Pro) | dbSNP |
11 | g.68794860C>T | CA303058 | CPT1A | c.823G>A (p.Ala275Thr) c.79G>A (p.Ala27Thr) c.919G>A (p.Ala307Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794861G>A | CA6152512 | CPT1A | c.822C>T (p.Asn274=) c.78C>T (p.Asn26=) c.918C>T (p.Asn306=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794861G>C | CA381634575 | CPT1A | c.822C>G (p.Asn274Lys) c.78C>G (p.Asn26Lys) c.918C>G (p.Asn306Lys) | |
11 | g.68794861G>T | CA381634577 | CPT1A | c.822C>A (p.Asn274Lys) c.78C>A (p.Asn26Lys) c.918C>A (p.Asn306Lys) | |
11 | g.68794862T>A | CA381634581 | CPT1A | c.821A>T (p.Asn274Ile) c.77A>T (p.Asn26Ile) c.917A>T (p.Asn306Ile) | |
11 | g.68794862T>C | CA381634582 | CPT1A | c.821A>G (p.Asn274Ser) c.77A>G (p.Asn26Ser) c.917A>G (p.Asn306Ser) | |
11 | g.68794862T>G | CA381634579 | CPT1A | c.821A>C (p.Asn274Thr) c.77A>C (p.Asn26Thr) c.917A>C (p.Asn306Thr) | |
11 | g.68794863T>A | CA381634585 | CPT1A | c.820A>T (p.Asn274Tyr) c.76A>T (p.Asn26Tyr) c.916A>T (p.Asn306Tyr) | |
11 | g.68794863T>C | CA381634587 | CPT1A | c.820A>G (p.Asn274Asp) c.76A>G (p.Asn26Asp) c.916A>G (p.Asn306Asp) | |
11 | g.68794863T>G | CA381634589 | CPT1A | c.820A>C (p.Asn274His) c.76A>C (p.Asn26His) c.916A>C (p.Asn306His) | |
11 | g.68794864G>A | CA475203953 | CPT1A | c.819C>T (p.Gly273=) c.75C>T (p.Gly25=) c.915C>T (p.Gly305=) | |
11 | g.68794864G>C | CA475203951 | CPT1A | c.819C>G (p.Gly273=) c.75C>G (p.Gly25=) c.915C>G (p.Gly305=) | |
11 | g.68794864G>T | CA475203948 | CPT1A | c.819C>A (p.Gly273=) c.75C>A (p.Gly25=) c.915C>A (p.Gly305=) | |
11 | g.68794865C>A | CA381634591 | CPT1A | c.818G>T (p.Gly273Val) c.74G>T (p.Gly25Val) c.914G>T (p.Gly305Val) | |
11 | g.68794865C>G | CA381634593 | CPT1A | c.818G>C (p.Gly273Ala) c.74G>C (p.Gly25Ala) c.914G>C (p.Gly305Ala) | |
11 | g.68794865C>T | CA381634595 | CPT1A | c.818G>A (p.Gly273Asp) c.74G>A (p.Gly25Asp) c.914G>A (p.Gly305Asp) | |
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.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) | |
11 | g.68794882A>C | CA381634672 | CPT1A | c.801T>G (p.Ile267Met) c.57T>G (p.Ile19Met) c.897T>G (p.Ile299Met) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68794882A>G | CA475204061 | CPT1A | c.801T>C (p.Ile267=) c.57T>C (p.Ile19=) c.897T>C (p.Ile299=) | |
11 | g.68794882A>T | CA475204062 | CPT1A | c.801T>A (p.Ile267=) c.57T>A (p.Ile19=) c.897T>A (p.Ile299=) | |
11 | g.68794883A>C | CA381634674 | CPT1A | c.800T>G (p.Ile267Ser) c.56T>G (p.Ile19Ser) c.896T>G (p.Ile299Ser) | |
11 | g.68794883A>G | CA381634675 | CPT1A | c.800T>C (p.Ile267Thr) c.56T>C (p.Ile19Thr) c.896T>C (p.Ile299Thr) | |
11 | g.68794883A>T | CA381634676 | CPT1A | c.800T>A (p.Ile267Asn) c.56T>A (p.Ile19Asn) c.896T>A (p.Ile299Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68794884T>A | CA381634679 | CPT1A | c.799A>T (p.Ile267Phe) c.55A>T (p.Ile19Phe) c.895A>T (p.Ile299Phe) | |
11 | g.68794884T>C | CA381634681 | CPT1A | c.799A>G (p.Ile267Val) c.55A>G (p.Ile19Val) c.895A>G (p.Ile299Val) | gnomAD v4 |
11 | g.68794884T>G | CA381634682 | CPT1A | c.799A>C (p.Ile267Leu) c.55A>C (p.Ile19Leu) c.895A>C (p.Ile299Leu) | |
11 | g.68794885G>A | CA6152515 | CPT1A | c.798C>T (p.His266=) c.54C>T (p.His18=) c.894C>T (p.His298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794885G>C | CA381634686 | CPT1A | c.798C>G (p.His266Gln) c.54C>G (p.His18Gln) c.894C>G (p.His298Gln) | |
11 | g.68794885G>T | CA381634688 | CPT1A | c.798C>A (p.His266Gln) c.54C>A (p.His18Gln) c.894C>A (p.His298Gln) | |
11 | g.68794886T>A | CA381634692 | CPT1A | c.797A>T (p.His266Leu) c.53A>T (p.His18Leu) c.893A>T (p.His298Leu) | |
11 | g.68794886T>C | CA381634694 | CPT1A | c.797A>G (p.His266Arg) c.53A>G (p.His18Arg) c.893A>G (p.His298Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794886T>G | CA381634696 | CPT1A | c.797A>C (p.His266Pro) c.53A>C (p.His18Pro) c.893A>C (p.His298Pro) | |
11 | g.68794887G>A | CA6152516 | CPT1A | c.796C>T (p.His266Tyr) c.52C>T (p.His18Tyr) c.892C>T (p.His298Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68794887G>C | CA381634699 | CPT1A | c.796C>G (p.His266Asp) c.52C>G (p.His18Asp) c.892C>G (p.His298Asp) | |
11 | g.68794887G>T | CA381634701 | CPT1A | c.796C>A (p.His266Asn) c.52C>A (p.His18Asn) c.892C>A (p.His298Asn) | |
11 | g.68794888A>C | CA475204065 | CPT1A | c.795T>G (p.Thr265=) c.51T>G (p.Thr17=) c.891T>G (p.Thr297=) | |
11 | g.68794888A>G | CA475204067 | CPT1A | c.795T>C (p.Thr265=) c.51T>C (p.Thr17=) c.891T>C (p.Thr297=) | ClinVar dbSNP |
11 | g.68794888A>T | CA475204068 | CPT1A | c.795T>A (p.Thr265=) c.51T>A (p.Thr17=) c.891T>A (p.Thr297=) | |
11 | g.68794889G>A | CA381634703 | CPT1A | c.794C>T (p.Thr265Ile) c.50C>T (p.Thr17Ile) c.890C>T (p.Thr297Ile) | |
11 | g.68794889G>C | CA381634705 | CPT1A | c.794C>G (p.Thr265Ser) c.50C>G (p.Thr17Ser) c.890C>G (p.Thr297Ser) | |
11 | g.68794889G>T | CA381634704 | CPT1A | c.794C>A (p.Thr265Asn) c.50C>A (p.Thr17Asn) c.890C>A (p.Thr297Asn) | |
11 | g.68794890T>A | CA381634708 | CPT1A | c.793A>T (p.Thr265Ser) c.49A>T (p.Thr17Ser) c.889A>T (p.Thr297Ser) | |
11 | g.68794890T>C | CA381634709 | CPT1A | c.793A>G (p.Thr265Ala) c.49A>G (p.Thr17Ala) c.889A>G (p.Thr297Ala) | |
11 | g.68794890T>G | CA381634711 | CPT1A | c.793A>C (p.Thr265Pro) c.49A>C (p.Thr17Pro) c.889A>C (p.Thr297Pro) | |
11 | g.68794891T>A | CA475204070 | CPT1A | c.792A>T (p.Pro264=) c.48A>T (p.Pro16=) c.888A>T (p.Pro296=) | |
11 | g.68794891T>C | CA475204072 | CPT1A | c.792A>G (p.Pro264=) c.48A>G (p.Pro16=) c.888A>G (p.Pro296=) | ClinVar |
11 | g.68794891T>G | CA475204071 | CPT1A | c.792A>C (p.Pro264=) c.48A>C (p.Pro16=) c.888A>C (p.Pro296=) | |
11 | g.68794892G>A | CA381634713 | CPT1A | c.791C>T (p.Pro264Leu) c.47C>T (p.Pro16Leu) c.887C>T (p.Pro296Leu) | COSMIC |
11 | g.68794892G>C | CA381634715 | CPT1A | c.791C>G (p.Pro264Arg) c.47C>G (p.Pro16Arg) c.887C>G (p.Pro296Arg) | |
11 | g.68794892G>T | CA381634716 | CPT1A | c.791C>A (p.Pro264Gln) c.47C>A (p.Pro16Gln) c.887C>A (p.Pro296Gln) | |
11 | g.68794893G>A | CA381634718 | CPT1A | c.790C>T (p.Pro264Ser) c.46C>T (p.Pro16Ser) c.886C>T (p.Pro296Ser) | |
11 | g.68794893G>C | CA381634721 | CPT1A | c.790C>G (p.Pro264Ala) c.46C>G (p.Pro16Ala) c.886C>G (p.Pro296Ala) | |
11 | g.68794893G>T | CA381634723 | CPT1A | c.790C>A (p.Pro264Thr) c.46C>A (p.Pro16Thr) c.886C>A (p.Pro296Thr) | |
11 | g.68794894A>C | CA475204076 | CPT1A | c.789T>G (p.Leu263=) c.45T>G (p.Leu15=) c.885T>G (p.Leu295=) | |
11 | g.68794894A>G | CA475204078 | CPT1A | c.789T>C (p.Leu263=) c.45T>C (p.Leu15=) c.885T>C (p.Leu295=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.68794894A>T | CA475204079 | CPT1A | c.789T>A (p.Leu263=) c.45T>A (p.Leu15=) c.885T>A (p.Leu295=) | |
11 | g.68794895A>C | CA381634725 | CPT1A | c.788T>G (p.Leu263Arg) c.44T>G (p.Leu15Arg) c.884T>G (p.Leu295Arg) | |
11 | g.68794895A>G | CA381634727 | CPT1A | c.788T>C (p.Leu263Pro) c.44T>C (p.Leu15Pro) c.884T>C (p.Leu295Pro) | |
11 | g.68794895A>T | CA381634729 | CPT1A | c.788T>A (p.Leu263His) c.44T>A (p.Leu15His) c.884T>A (p.Leu295His) | |
11 | g.68794896G>A | CA381634731 | CPT1A | c.787C>T (p.Leu263Phe) c.43C>T (p.Leu15Phe) c.883C>T (p.Leu295Phe) | COSMIC |
11 | g.68794896G>C | CA381634736 | CPT1A | c.787C>G (p.Leu263Val) c.43C>G (p.Leu15Val) c.883C>G (p.Leu295Val) | |
11 | g.68794896G>T | CA381634734 | CPT1A | c.787C>A (p.Leu263Ile) c.43C>A (p.Leu15Ile) c.883C>A (p.Leu295Ile) | |
11 | g.68794897G>A | CA475204082 | CPT1A | c.786C>T (p.Ile262=) c.42C>T (p.Ile14=) c.882C>T (p.Ile294=) | |
11 | g.68794897G>C | CA381634737 | CPT1A | c.786C>G (p.Ile262Met) c.42C>G (p.Ile14Met) c.882C>G (p.Ile294Met) | |
11 | g.68794897G>T | CA475204083 | CPT1A | c.786C>A (p.Ile262=) c.42C>A (p.Ile14=) c.882C>A (p.Ile294=) | dbSNP |
11 | g.68794898A>C | CA381634738 | CPT1A | c.785T>G (p.Ile262Ser) c.41T>G (p.Ile14Ser) c.881T>G (p.Ile294Ser) | |
11 | g.68794898A>G | CA381634739 | CPT1A | c.785T>C (p.Ile262Thr) c.41T>C (p.Ile14Thr) c.881T>C (p.Ile294Thr) | dbSNP |
11 | g.68794898A>T | CA381634742 | CPT1A | c.785T>A (p.Ile262Asn) c.41T>A (p.Ile14Asn) c.881T>A (p.Ile294Asn) | |
11 | g.68794899T>A | CA381634745 | CPT1A | c.784A>T (p.Ile262Phe) c.40A>T (p.Ile14Phe) c.880A>T (p.Ile294Phe) | |
11 | g.68794899T>C | CA381634746 | CPT1A | c.784A>G (p.Ile262Val) c.40A>G (p.Ile14Val) c.880A>G (p.Ile294Val) | |
11 | g.68794899T>G | CA381634747 | CPT1A | c.784A>C (p.Ile262Leu) c.40A>C (p.Ile14Leu) c.880A>C (p.Ile294Leu) | |
11 | g.68794900A>C | CA381634748 | CPT1A | c.783T>G (p.Tyr261Ter) c.39T>G (p.Tyr13Ter) c.879T>G (p.Tyr293Ter) | |
11 | g.68794900A>G | CA475204085 | CPT1A | c.783T>C (p.Tyr261=) c.39T>C (p.Tyr13=) c.879T>C (p.Tyr293=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68794900A>T | CA381634749 | CPT1A | c.783T>A (p.Tyr261Ter) c.39T>A (p.Tyr13Ter) c.879T>A (p.Tyr293Ter) | ClinVar |
11 | g.68794901T>A | CA381634750 | CPT1A | c.782A>T (p.Tyr261Phe) c.38A>T (p.Tyr13Phe) c.878A>T (p.Tyr293Phe) | |
11 | g.68794901T>C | CA381634751 | CPT1A | c.782A>G (p.Tyr261Cys) c.38A>G (p.Tyr13Cys) c.878A>G (p.Tyr293Cys) | |
11 | g.68794901T>G | CA381634752 | CPT1A | c.782A>C (p.Tyr261Ser) c.38A>C (p.Tyr13Ser) c.878A>C (p.Tyr293Ser) | |
11 | g.68794902A>C | CA381634755 | CPT1A | c.781T>G (p.Tyr261Asp) c.37T>G (p.Tyr13Asp) c.877T>G (p.Tyr293Asp) | |
11 | g.68794902A>G | CA381634754 | CPT1A | c.781T>C (p.Tyr261His) c.37T>C (p.Tyr13His) c.877T>C (p.Tyr293His) | |
11 | g.68794902A>T | CA381634753 | CPT1A | c.781T>A (p.Tyr261Asn) c.37T>A (p.Tyr13Asn) c.877T>A (p.Tyr293Asn) | |
11 | g.68794903C>A | CA475204086 | CPT1A | c.780G>T (p.Leu260=) c.36G>T (p.Leu12=) c.876G>T (p.Leu292=) | |
11 | g.68794903C>G | CA475204087 | CPT1A | c.780G>C (p.Leu260=) c.36G>C (p.Leu12=) c.876G>C (p.Leu292=) | |
11 | g.68794903C>T | CA475204088 | CPT1A | c.780G>A (p.Leu260=) c.36G>A (p.Leu12=) c.876G>A (p.Leu292=) | gnomAD v4 |
11 | g.68794904A>C | CA381634756 | CPT1A | c.779T>G (p.Leu260Arg) c.35T>G (p.Leu12Arg) c.875T>G (p.Leu292Arg) | |
11 | g.68794904A>G | CA381634757 | CPT1A | c.779T>C (p.Leu260Pro) c.35T>C (p.Leu12Pro) c.875T>C (p.Leu292Pro) | |
11 | g.68794904A>T | CA381634758 | CPT1A | c.779T>A (p.Leu260Gln) c.35T>A (p.Leu12Gln) c.875T>A (p.Leu292Gln) | gnomAD v4 |
11 | g.68794905G>A | CA475204089 | CPT1A | c.778C>T (p.Leu260=) c.34C>T (p.Leu12=) c.874C>T (p.Leu292=) | |
11 | g.68794905G>C | CA381634759 | CPT1A | c.778C>G (p.Leu260Val) c.34C>G (p.Leu12Val) c.874C>G (p.Leu292Val) | |
11 | g.68794905G>T | CA381634760 | CPT1A | c.778C>A (p.Leu260Met) c.34C>A (p.Leu12Met) c.874C>A (p.Leu292Met) | |
11 | g.68794906C>A | CA475204090 | CPT1A | c.777G>T (p.Leu259=) c.33G>T (p.Leu11=) c.873G>T (p.Leu291=) | |
11 | g.68794906C>G | CA475204091 | CPT1A | c.777G>C (p.Leu259=) c.33G>C (p.Leu11=) c.873G>C (p.Leu291=) | |
11 | g.68794906C>T | CA475204092 | CPT1A | c.777G>A (p.Leu259=) c.33G>A (p.Leu11=) c.873G>A (p.Leu291=) | gnomAD v4 |
11 | g.68794907A>C | CA381634761 | CPT1A | c.776T>G (p.Leu259Arg) c.32T>G (p.Leu11Arg) c.872T>G (p.Leu291Arg) | |
11 | g.68794907A>G | CA381634762 | CPT1A | c.776T>C (p.Leu259Pro) c.32T>C (p.Leu11Pro) c.872T>C (p.Leu291Pro) | |
11 | g.68794907A>T | CA381634763 | CPT1A | c.776T>A (p.Leu259Gln) c.32T>A (p.Leu11Gln) c.872T>A (p.Leu291Gln) | |
11 | g.68794908G>A | CA475204093 | CPT1A | c.775C>T (p.Leu259=) c.31C>T (p.Leu11=) c.871C>T (p.Leu291=) | ClinVar dbSNP |
11 | g.68794908G>C | CA381634764 | CPT1A | c.775C>G (p.Leu259Val) c.31C>G (p.Leu11Val) c.871C>G (p.Leu291Val) | |
11 | g.68794908G>T | CA381634765 | CPT1A | c.775C>A (p.Leu259Met) c.31C>A (p.Leu11Met) c.871C>A (p.Leu291Met) | |
11 | g.68794909A>C | CA381634766 | CPT1A | c.774T>G (p.Asp258Glu) c.30T>G (p.Asp10Glu) c.870T>G (p.Asp290Glu) | |
11 | g.68794909A>G | CA475204094 | CPT1A | c.774T>C (p.Asp258=) c.30T>C (p.Asp10=) c.870T>C (p.Asp290=) | gnomAD v4 |
11 | g.68794909A>T | CA381634767 | CPT1A | c.774T>A (p.Asp258Glu) c.30T>A (p.Asp10Glu) c.870T>A (p.Asp290Glu) | |
11 | g.68794910T>A | CA381634768 | CPT1A | c.773A>T (p.Asp258Val) c.29A>T (p.Asp10Val) c.869A>T (p.Asp290Val) | |
11 | g.68794910T>C | CA381634770 | CPT1A | c.773A>G (p.Asp258Gly) c.29A>G (p.Asp10Gly) c.869A>G (p.Asp290Gly) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68794910T>G | CA381634769 | CPT1A | c.773A>C (p.Asp258Ala) c.29A>C (p.Asp10Ala) c.869A>C (p.Asp290Ala) | |
11 | g.68794911C>A | CA381634771 | CPT1A | c.772G>T (p.Asp258Tyr) c.28G>T (p.Asp10Tyr) c.868G>T (p.Asp290Tyr) | ClinVar |
11 | g.68794911C>G | CA381634773 | CPT1A | c.772G>C (p.Asp258His) c.28G>C (p.Asp10His) c.868G>C (p.Asp290His) | |
11 | g.68794911C>T | CA381634772 | CPT1A | c.772G>A (p.Asp258Asn) c.28G>A (p.Asp10Asn) c.868G>A (p.Asp290Asn) | |
11 | g.68794912C>A | CA381634774 | CPT1A | c.772-1G>T (n.772-1G>T) c.28-1G>T (n.28-1G>T) c.868-1G>T (n.868-1G>T) | |
11 | g.68794912C>G | CA381634775 | CPT1A | c.772-1G>C (n.772-1G>C) c.28-1G>C (n.28-1G>C) c.868-1G>C (n.868-1G>C) | |
11 | g.68794912C>T | CA381634776 | CPT1A | c.772-1G>A (n.772-1G>A) c.28-1G>A (n.28-1G>A) c.868-1G>A (n.868-1G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.68794913T>A | CA381634777 | CPT1A | c.772-2A>T (n.772-2A>T) c.28-2A>T (n.28-2A>T) c.868-2A>T (n.868-2A>T) | |
11 | g.68794913T>C | CA16041540 | CPT1A | c.772-2A>G (n.772-2A>G) c.28-2A>G (n.28-2A>G) c.868-2A>G (n.868-2A>G) | ClinVar dbSNP |
11 | g.68794913T>G | CA381634778 | CPT1A | c.772-2A>C (n.772-2A>C) c.28-2A>C (n.28-2A>C) c.868-2A>C (n.868-2A>C) | |
11 | g.68794914G>T | CA645580008 | CPT1A | c.772-3C>A (n.772-3C>A) c.28-3C>A (n.28-3C>A) c.868-3C>A (n.868-3C>A) | COSMIC COSMIC |
11 | g.68794918A>G | CA939203443 | CPT1A | c.772-7T>C (n.772-7T>C) c.28-7T>C (n.28-7T>C) c.868-7T>C (n.868-7T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.68794919G>A | CA6152517 | CPT1A | c.772-8C>T (n.772-8C>T) c.28-8C>T (n.28-8C>T) c.868-8C>T (n.868-8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794919G>C | CA2580084962 | CPT1A | c.772-8C>G (n.772-8C>G) c.28-8C>G (n.28-8C>G) c.868-8C>G (n.868-8C>G) | ClinVar |
11 | g.68794920C>A | CA2573147544 | CPT1A | c.772-9G>T (n.772-9G>T) c.28-9G>T (n.28-9G>T) c.868-9G>T (n.868-9G>T) | ClinVar dbSNP |
11 | g.68794920C>T | CA223386169 | CPT1A | c.772-9G>A (n.772-9G>A) c.28-9G>A (n.28-9G>A) c.868-9G>A (n.868-9G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794921G>A | CA6152518 | CPT1A | c.772-10C>T (n.772-10C>T) c.28-10C>T (n.28-10C>T) c.868-10C>T (n.868-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794921G>T | CA2614737946 | CPT1A | c.772-10C>A (n.772-10C>A) c.28-10C>A (n.28-10C>A) c.868-10C>A (n.868-10C>A) | gnomAD v4 |
11 | g.68794922A>G | CA939203450 | CPT1A | c.772-11T>C (n.772-11T>C) c.28-11T>C (n.28-11T>C) c.868-11T>C (n.868-11T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68794922A>T | CA2574903356 | CPT1A | c.772-11T>A (n.772-11T>A) c.28-11T>A (n.28-11T>A) c.868-11T>A (n.868-11T>A) | |
11 | g.68794923C>G | CA6152519 | CPT1A | c.772-12G>C (n.772-12G>C) c.28-12G>C (n.28-12G>C) c.868-12G>C (n.868-12G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794930G>A | CA679633307 | CPT1A | c.772-19C>T (n.772-19C>T) c.28-19C>T (n.28-19C>T) c.868-19C>T (n.868-19C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68794931G>A | CA223386182 | CPT1A | c.772-20C>T (n.772-20C>T) c.28-20C>T (n.28-20C>T) c.868-20C>T (n.868-20C>T) | dbSNP gnomAD v2 |
11 | g.68794931G>C | CA2614737957 | CPT1A | c.772-20C>G (n.772-20C>G) c.28-20C>G (n.28-20C>G) c.868-20C>G (n.868-20C>G) | gnomAD v4 |
11 | g.68794931G>T | CA2614737958 | CPT1A | c.772-20C>A (n.772-20C>A) c.28-20C>A (n.28-20C>A) c.868-20C>A (n.868-20C>A) | ClinVar gnomAD v4 |
11 | g.68794932A>C | CA2614737962 | CPT1A | c.772-21T>G (n.772-21T>G) c.28-21T>G (n.28-21T>G) c.868-21T>G (n.868-21T>G) | gnomAD v4 |
11 | g.68794932A>G | CA2614737961 | CPT1A | c.772-21T>C (n.772-21T>C) c.28-21T>C (n.28-21T>C) c.868-21T>C (n.868-21T>C) | gnomAD v4 |
11 | g.68794933G>A | CA2614737963 | CPT1A | c.772-22C>T (n.772-22C>T) c.28-22C>T (n.28-22C>T) c.868-22C>T (n.868-22C>T) | gnomAD v4 |
11 | g.68794934A>G | CA2614737966 | CPT1A | c.772-23T>C (n.772-23T>C) c.28-23T>C (n.28-23T>C) c.868-23T>C (n.868-23T>C) | gnomAD v4 |
11 | g.68794935G>A | CA223386190 | CPT1A | c.772-24C>T (n.772-24C>T) c.28-24C>T (n.28-24C>T) c.868-24C>T (n.868-24C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794935G>C | CA2614737984 | CPT1A | c.772-24C>G (n.772-24C>G) c.28-24C>G (n.28-24C>G) c.868-24C>G (n.868-24C>G) | gnomAD v4 |
11 | g.68794935G>T | CA6152520 | CPT1A | c.772-24C>A (n.772-24C>A) c.28-24C>A (n.28-24C>A) c.868-24C>A (n.868-24C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68794938T>C | CA6152521 | CPT1A | c.772-27A>G (n.772-27A>G) c.28-27A>G (n.28-27A>G) c.868-27A>G (n.868-27A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794940T>C | CA6152522 | CPT1A | c.772-29A>G (n.772-29A>G) c.28-29A>G (n.28-29A>G) c.868-29A>G (n.868-29A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794940T>G | CA2792553396 | CPT1A | c.772-29A>C (n.772-29A>C) c.28-29A>C (n.28-29A>C) c.868-29A>C (n.868-29A>C) | |
11 | g.68794941G>T | CA2614737991 | CPT1A | c.772-30C>A (n.772-30C>A) c.28-30C>A (n.28-30C>A) c.868-30C>A (n.868-30C>A) | gnomAD v4 |
11 | g.68794942C>T | CA599990769 | CPT1A | c.772-31G>A (n.772-31G>A) c.28-31G>A (n.28-31G>A) c.868-31G>A (n.868-31G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68794943A>G | CA6152523 | CPT1A | c.772-32T>C (n.772-32T>C) c.28-32T>C (n.28-32T>C) c.868-32T>C (n.868-32T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794944T>C | CA6152524 | CPT1A | c.772-33A>G (n.772-33A>G) c.28-33A>G (n.28-33A>G) c.868-33A>G (n.868-33A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794945A>T | CA223386219 | CPT1A | c.772-34T>A (n.772-34T>A) c.28-34T>A (n.28-34T>A) c.868-34T>A (n.868-34T>A) | dbSNP gnomAD v4 |
11 | g.68794946G>C | CA599990770 | CPT1A | c.772-35C>G (n.772-35C>G) c.28-35C>G (n.28-35C>G) c.868-35C>G (n.868-35C>G) | dbSNP gnomAD v2 |
11 | g.68794947G>A | CA2574903357 | CPT1A | c.772-36C>T (n.772-36C>T) c.28-36C>T (n.28-36C>T) c.868-36C>T (n.868-36C>T) | gnomAD v4 |
11 | g.68794948G>A | CA2614738005 | CPT1A | c.772-37C>T (n.772-37C>T) c.28-37C>T (n.28-37C>T) c.868-37C>T (n.868-37C>T) | gnomAD v4 |
11 | g.68794948G>T | CA2614738003 | CPT1A | c.772-37C>A (n.772-37C>A) c.28-37C>A (n.28-37C>A) c.868-37C>A (n.868-37C>A) | gnomAD v4 |
11 | g.68794951del | CA2614738007 | CPT1A | c.772-38del (n.772-38del) c.28-38del (n.28-38del) c.868-38del (n.868-38del) | gnomAD v4 |
11 | g.68794951A>G | CA6152525 | CPT1A | c.772-40T>C (n.772-40T>C) c.28-40T>C (n.28-40T>C) c.868-40T>C (n.868-40T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794952del | CA6152526 | CPT1A | c.772-41del (n.772-41del) c.28-41del (n.28-41del) c.868-41del (n.868-41del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794952G>C | CA2614738011 | CPT1A | c.772-41C>G (n.772-41C>G) c.28-41C>G (n.28-41C>G) c.868-41C>G (n.868-41C>G) | gnomAD v4 |