Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |