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.68812395G>A | CA599992759 | CPT1A | c.281+42C>T (n.281+42C>T) c.377+42C>T (n.377+42C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812396G>A | CA2574903518 | CPT1A | c.281+41C>T (n.281+41C>T) c.377+41C>T (n.377+41C>T) | dbSNP gnomAD v4 |
| 11 | g.68812396G>T | CA2614738009 | CPT1A | c.281+41C>A (n.281+41C>A) c.377+41C>A (n.377+41C>A) | gnomAD v4 |
| 11 | g.68812397dup | CA6152723 | CPT1A | c.281+40dup (n.281+40dup) c.377+40dup (n.377+40dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812398A>G | CA2614738012 | CPT1A | c.281+39T>C (n.281+39T>C) c.377+39T>C (n.377+39T>C) | gnomAD v4 |
| 11 | g.68812400C>T | CA2724296237 | CPT1A | c.281+37G>A (n.281+37G>A) c.377+37G>A (n.377+37G>A) | dbSNP |
| 11 | g.68812401T>C | CA6152724 | CPT1A | c.281+36A>G (n.281+36A>G) c.377+36A>G (n.377+36A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812405del | CA2614738014 | CPT1A | c.281+34del (n.281+34del) c.377+34del (n.377+34del) | gnomAD v4 |
| 11 | g.68812405C>T | CA2724296240 | CPT1A | c.281+32G>A (n.281+32G>A) c.377+32G>A (n.377+32G>A) | dbSNP |
| 11 | g.68812406A>G | CA939184363 | CPT1A | c.281+31T>C (n.281+31T>C) c.377+31T>C (n.377+31T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68812407G>A | CA2614738015 | CPT1A | c.281+30C>T (n.281+30C>T) c.377+30C>T (n.377+30C>T) | gnomAD v4 |
| 11 | g.68812409C>T | CA2724296245 | CPT1A | c.281+28G>A (n.281+28G>A) c.377+28G>A (n.377+28G>A) | dbSNP |
| 11 | g.68812412T>A | CA6152726 | CPT1A | c.281+25A>T (n.281+25A>T) c.377+25A>T (n.377+25A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812412T>C | CA6152725 | CPT1A | c.281+25A>G (n.281+25A>G) c.377+25A>G (n.377+25A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812413T>A | CA2614738025 | CPT1A | c.281+24A>T (n.281+24A>T) c.377+24A>T (n.377+24A>T) | gnomAD v4 |
| 11 | g.68812413T>C | CA939184367 | CPT1A | c.281+24A>G (n.281+24A>G) c.377+24A>G (n.377+24A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68812413T>G | CA679638650 | CPT1A | c.281+24A>C (n.281+24A>C) c.377+24A>C (n.377+24A>C) | dbSNP |
| 11 | g.68812415G>T | CA6152727 | CPT1A | c.281+22C>A (n.281+22C>A) c.377+22C>A (n.377+22C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812415_68812418dup | CA2614738029 | CPT1A | c.281+19_281+22dup (n.281+19_281+22dup) c.377+19_377+22dup (n.377+19_377+22dup) | gnomAD v4 |
| 11 | g.68812416A>C | CA6152728 | CPT1A | c.281+21T>G (n.281+21T>G) c.377+21T>G (n.377+21T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812424C>T | CA2580084763 | CPT1A | c.281+13G>A (n.281+13G>A) c.377+13G>A (n.377+13G>A) | ClinVar gnomAD v4 |
| 11 | g.68812428A>C | CA2614738044 | CPT1A | c.281+9T>G (n.281+9T>G) c.377+9T>G (n.377+9T>G) | gnomAD v4 |
| 11 | g.68812429T>G | CA2697548805 | CPT1A | c.281+8A>C (n.281+8A>C) c.377+8A>C (n.377+8A>C) | ClinVar |
| 11 | g.68812430T>A | CA2739270632 | CPT1A | c.281+7A>T (n.281+7A>T) c.377+7A>T (n.377+7A>T) | ClinVar |
| 11 | g.68812431A>G | CA599992765 | CPT1A | c.281+6T>C (n.281+6T>C) c.377+6T>C (n.377+6T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812432C>T | CA6152729 | CPT1A | c.281+5G>A (n.281+5G>A) c.377+5G>A (n.377+5G>A) | dbSNP ExAC |
| 11 | g.68812435A>C | CA381637697 | CPT1A | c.281+2T>G (n.281+2T>G) c.377+2T>G (n.377+2T>G) | |
| 11 | g.68812435A>G | CA381637699 | CPT1A | c.281+2T>C (n.281+2T>C) c.377+2T>C (n.377+2T>C) | |
| 11 | g.68812435A>T | CA381637701 | CPT1A | c.281+2T>A (n.281+2T>A) c.377+2T>A (n.377+2T>A) | |
| 11 | g.68812436C>A | CA381637704 | CPT1A | c.281+1G>T (n.281+1G>T) c.377+1G>T (n.377+1G>T) | ClinVar |
| 11 | g.68812436C>G | CA381637707 | CPT1A | c.281+1G>C (n.281+1G>C) c.377+1G>C (n.377+1G>C) | |
| 11 | g.68812436C>T | CA221858 | CPT1A | c.281+1G>A (n.281+1G>A) c.377+1G>A (n.377+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812437G>A | CA6152730 | CPT1A | c.281C>T (p.Ala94Val) c.377C>T (p.Ala126Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68812437G>C | CA381637711 | CPT1A | c.281C>G (p.Ala94Gly) c.377C>G (p.Ala126Gly) | |
| 11 | g.68812437G>T | CA381637713 | CPT1A | c.281C>A (p.Ala94Asp) c.377C>A (p.Ala126Asp) | |
| 11 | g.68812438C>A | CA381637716 | CPT1A | c.280G>T (p.Ala94Ser) c.280G>T c.376G>T (p.Ala126Ser) | |
| 11 | g.68812438C>G | CA381637718 | CPT1A | c.280G>C (p.Ala94Pro) c.280G>C c.376G>C (p.Ala126Pro) | |
| 11 | g.68812438C>T | CA381637720 | CPT1A | c.280G>A (p.Ala94Thr) c.280G>A c.376G>A (p.Ala126Thr) | dbSNP |
| 11 | g.68812439C>A | CA475207487 | CPT1A | c.279G>T (p.Thr93=) c.375G>T (p.Thr125=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68812439C>G | CA475207488 | CPT1A | c.279G>C (p.Thr93=) c.375G>C (p.Thr125=) | |
| 11 | g.68812439C>T | CA6152731 | CPT1A | c.279G>A (p.Thr93=) c.375G>A (p.Thr125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812440G>A | CA6152732 | CPT1A | c.278C>T (p.Thr93Met) c.374C>T (p.Thr125Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68812440G>C | CA381637725 | CPT1A | c.278C>G (p.Thr93Arg) c.374C>G (p.Thr125Arg) | |
| 11 | g.68812440G>T | CA381637728 | CPT1A | c.278C>A (p.Thr93Lys) c.374C>A (p.Thr125Lys) | |
| 11 | g.68812441T>A | CA381637733 | CPT1A | c.277A>T (p.Thr93Ser) c.373A>T (p.Thr125Ser) | |
| 11 | g.68812441T>C | CA381637735 | CPT1A | c.277A>G (p.Thr93Ala) c.373A>G (p.Thr125Ala) | |
| 11 | g.68812441T>G | CA381637737 | CPT1A | c.277A>C (p.Thr93Pro) c.373A>C (p.Thr125Pro) | ClinVar dbSNP |
| 11 | g.68812442T>A | CA381637740 | CPT1A | c.276A>T (p.Glu92Asp) c.372A>T (p.Glu124Asp) | |
| 11 | g.68812442T>C | CA475207489 | CPT1A | c.276A>G (p.Glu92=) c.372A>G (p.Glu124=) | |
| 11 | g.68812442T>G | CA381637742 | CPT1A | c.276A>C (p.Glu92Asp) c.372A>C (p.Glu124Asp) | |
| 11 | g.68812443T>A | CA381637744 | CPT1A | c.275A>T (p.Glu92Val) c.371A>T (p.Glu124Val) | |
| 11 | g.68812443T>C | CA381637747 | CPT1A | c.275A>G (p.Glu92Gly) c.371A>G (p.Glu124Gly) | |
| 11 | g.68812443T>G | CA381637749 | CPT1A | c.275A>C (p.Glu92Ala) c.371A>C (p.Glu124Ala) | |
| 11 | g.68812444C>A | CA381637752 | CPT1A | c.274G>T (p.Glu92Ter) c.370G>T (p.Glu124Ter) | |
| 11 | g.68812444C>G | CA381637753 | CPT1A | c.274G>C (p.Glu92Gln) c.370G>C (p.Glu124Gln) | |
| 11 | g.68812444C>T | CA381637755 | CPT1A | c.274G>A (p.Glu92Lys) c.370G>A (p.Glu124Lys) | |
| 11 | g.68812445C>A | CA475207490 | CPT1A | c.273G>T (p.Leu91=) c.369G>T (p.Leu123=) | |
| 11 | g.68812445C>G | CA475207491 | CPT1A | c.273G>C (p.Leu91=) c.369G>C (p.Leu123=) | |
| 11 | g.68812445C>T | CA475207492 | CPT1A | c.273G>A (p.Leu91=) c.369G>A (p.Leu123=) | |
| 11 | g.68812446A>C | CA381637763 | CPT1A | c.272T>G (p.Leu91Arg) c.368T>G (p.Leu123Arg) | |
| 11 | g.68812446A>G | CA381637761 | CPT1A | c.272T>C (p.Leu91Pro) c.368T>C (p.Leu123Pro) | |
| 11 | g.68812446A>T | CA381637758 | CPT1A | c.272T>A (p.Leu91Gln) c.368T>A (p.Leu123Gln) | |
| 11 | g.68812447G>A | CA475207493 | CPT1A | c.271C>T (p.Leu91=) c.367C>T (p.Leu123=) | |
| 11 | g.68812447G>C | CA381637766 | CPT1A | c.271C>G (p.Leu91Val) c.367C>G (p.Leu123Val) | |
| 11 | g.68812447G>T | CA381637768 | CPT1A | c.271C>A (p.Leu91Met) c.367C>A (p.Leu123Met) | |
| 11 | g.68812448A>C | CA475207494 | CPT1A | c.270T>G (p.Thr90=) c.366T>G (p.Thr122=) | |
| 11 | g.68812448A>G | CA475207495 | CPT1A | c.270T>C (p.Thr90=) c.366T>C (p.Thr122=) | dbSNP |
| 11 | g.68812448A>T | CA475207496 | CPT1A | c.270T>A (p.Thr90=) c.366T>A (p.Thr122=) | |
| 11 | g.68812449G>A | CA381637772 | CPT1A | c.269C>T (p.Thr90Ile) c.365C>T (p.Thr122Ile) | |
| 11 | g.68812449G>C | CA381637774 | CPT1A | c.269C>G (p.Thr90Ser) c.365C>G (p.Thr122Ser) | |
| 11 | g.68812449G>T | CA381637776 | CPT1A | c.269C>A (p.Thr90Asn) c.365C>A (p.Thr122Asn) | |
| 11 | g.68812450T>A | CA381637780 | CPT1A | c.268A>T (p.Thr90Ser) c.364A>T (p.Thr122Ser) | |
| 11 | g.68812450T>C | CA381637781 | CPT1A | c.268A>G (p.Thr90Ala) c.364A>G (p.Thr122Ala) | |
| 11 | g.68812450T>G | CA381637784 | CPT1A | c.268A>C (p.Thr90Pro) c.364A>C (p.Thr122Pro) | |
| 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?) |