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