| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68807553G>A | CA221862 | CPT1A | c.367C>T (p.Arg123Cys) c.463C>T (p.Arg155Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68807553G>C | CA381636724 | CPT1A | c.367C>G (p.Arg123Gly) c.463C>G (p.Arg155Gly) | |
| 11 | g.68807553G>T | CA381636725 | CPT1A | c.367C>A (p.Arg123Ser) c.463C>A (p.Arg155Ser) | |
| 11 | g.68807554C>A | CA381636726 | CPT1A | c.366G>T (p.Met122Ile) c.462G>T (p.Met154Ile) | |
| 11 | g.68807554C>G | CA381636727 | CPT1A | c.366G>C (p.Met122Ile) c.462G>C (p.Met154Ile) | |
| 11 | g.68807554C>T | CA381636728 | CPT1A | c.366G>A (p.Met122Ile) c.462G>A (p.Met154Ile) | dbSNP |
| 11 | g.68807555A>C | CA381636729 | CPT1A | c.365T>G (p.Met122Arg) c.461T>G (p.Met154Arg) | |
| 11 | g.68807555A>G | CA381636731 | CPT1A | c.365T>C (p.Met122Thr) c.461T>C (p.Met154Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807555A>T | CA381636730 | CPT1A | c.365T>A (p.Met122Lys) c.461T>A (p.Met154Lys) | |
| 11 | g.68807556T>A | CA381636732 | CPT1A | c.364A>T (p.Met122Leu) c.460A>T (p.Met154Leu) | |
| 11 | g.68807556T>C | CA381636733 | CPT1A | c.364A>G (p.Met122Val) c.460A>G (p.Met154Val) | |
| 11 | g.68807556T>G | CA381636734 | CPT1A | c.364A>C (p.Met122Leu) c.460A>C (p.Met154Leu) | |
| 11 | g.68807557G>A | CA475207293 | CPT1A | c.363C>T (p.Thr121=) c.459C>T (p.Thr153=) | |
| 11 | g.68807557G>C | CA475207294 | CPT1A | c.363C>G (p.Thr121=) c.459C>G (p.Thr153=) | |
| 11 | g.68807557G>T | CA475207295 | CPT1A | c.363C>A (p.Thr121=) c.459C>A (p.Thr153=) | |
| 11 | g.68807558G>A | CA381636735 | CPT1A | c.362C>T (p.Thr121Ile) c.458C>T (p.Thr153Ile) | |
| 11 | g.68807558G>C | CA381636736 | CPT1A | c.362C>G (p.Thr121Ser) c.458C>G (p.Thr153Ser) | |
| 11 | g.68807558G>T | CA381636737 | CPT1A | c.362C>A (p.Thr121Asn) c.458C>A (p.Thr153Asn) | dbSNP |
| 11 | g.68807559T>A | CA381636738 | CPT1A | c.361A>T (p.Thr121Ser) c.457A>T (p.Thr153Ser) | |
| 11 | g.68807559T>C | CA381636739 | CPT1A | c.361A>G (p.Thr121Ala) c.457A>G (p.Thr153Ala) | |
| 11 | g.68807559T>G | CA381636740 | CPT1A | c.361A>C (p.Thr121Pro) c.457A>C (p.Thr153Pro) | |
| 11 | g.68807560G>A | CA6152698 | CPT1A | c.360C>T (p.Val120=) c.456C>T (p.Val152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807560G>C | CA475207297 | CPT1A | c.360C>G (p.Val120=) c.456C>G (p.Val152=) | |
| 11 | g.68807560G>T | CA475207298 | CPT1A | c.360C>A (p.Val120=) c.456C>A (p.Val152=) | |
| 11 | g.68807561A>C | CA381636743 | CPT1A | c.359T>G (p.Val120Gly) c.455T>G (p.Val152Gly) | |
| 11 | g.68807561A>G | CA381636742 | CPT1A | c.359T>C (p.Val120Ala) c.455T>C (p.Val152Ala) | gnomAD v4 |
| 11 | g.68807561A>T | CA381636741 | CPT1A | c.359T>A (p.Val120Asp) c.455T>A (p.Val152Asp) | |
| 11 | g.68807562C>A | CA381636744 | CPT1A | c.358G>T (p.Val120Phe) c.454G>T (p.Val152Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807562C>G | CA381636745 | CPT1A | c.358G>C (p.Val120Leu) c.454G>C (p.Val152Leu) | |
| 11 | g.68807562C>T | CA6152699 | CPT1A | c.358G>A (p.Val120Ile) c.454G>A (p.Val152Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807563G>A | CA6152700 | CPT1A | c.357C>T (p.Ile119=) c.453C>T (p.Ile151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68807563G>C | CA381636746 | CPT1A | c.357C>G (p.Ile119Met) c.453C>G (p.Ile151Met) | |
| 11 | g.68807563G>T | CA475207299 | CPT1A | c.357C>A (p.Ile119=) c.453C>A (p.Ile151=) | |
| 11 | g.68807565_68807566insAAGAT | CA2580084759 | CPT1A | c.357_358insTTATC (p.Val120LeufsTer9) c.453_454insTTATC (p.Val152LeufsTer9) | ClinVar |
| 11 | g.68807564A>C | CA381636749 | CPT1A | c.356T>G (p.Ile119Ser) c.452T>G (p.Ile151Ser) | |
| 11 | g.68807564A>G | CA381636748 | CPT1A | c.356T>C (p.Ile119Thr) c.452T>C (p.Ile151Thr) | |
| 11 | g.68807564A>T | CA381636747 | CPT1A | c.356T>A (p.Ile119Asn) c.452T>A (p.Ile151Asn) | |
| 11 | g.68807565T>A | CA381636750 | CPT1A | c.355A>T (p.Ile119Phe) c.451A>T (p.Ile151Phe) | |
| 11 | g.68807565T>C | CA381636751 | CPT1A | c.355A>G (p.Ile119Val) c.451A>G (p.Ile151Val) | |
| 11 | g.68807565T>G | CA381636752 | CPT1A | c.355A>C (p.Ile119Leu) c.451A>C (p.Ile151Leu) | |
| 11 | g.68807566G>A | CA475207300 | CPT1A | c.354C>T (p.Leu118=) c.450C>T (p.Leu150=) | |
| 11 | g.68807566G>C | CA475207301 | CPT1A | c.354C>G (p.Leu118=) c.450C>G (p.Leu150=) | |
| 11 | g.68807566G>T | CA475207302 | CPT1A | c.354C>A (p.Leu118=) c.450C>A (p.Leu150=) | |
| 11 | g.68807567A>C | CA381636753 | CPT1A | c.353T>G (p.Leu118Arg) c.353T>G c.449T>G (p.Leu150Arg) | |
| 11 | g.68807567A>G | CA381636754 | CPT1A | c.353T>C (p.Leu118Pro) c.353T>C c.449T>C (p.Leu150Pro) | |
| 11 | g.68807567A>T | CA381636755 | CPT1A | c.353T>A (p.Leu118His) c.353T>A c.449T>A (p.Leu150His) | |
| 11 | g.68807568G>A | CA381636756 | CPT1A | c.352C>T (p.Leu118Phe) c.352C>T c.448C>T (p.Leu150Phe) | |
| 11 | g.68807568G>C | CA381636758 | CPT1A | c.352C>G (p.Leu118Val) c.352C>G c.448C>G (p.Leu150Val) | gnomAD v4 |
| 11 | g.68807568G>T | CA381636757 | CPT1A | c.352C>A (p.Leu118Ile) c.352C>A c.448C>A (p.Leu150Ile) | |
| 11 | g.68807569G>A | CA475207303 | CPT1A | c.351C>T (p.Ala117=) c.447C>T (p.Ala149=) |