| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.73196733C>A | CA400884058 | COG1 | c.542C>A (p.Ala181Glu) c.540C>A c.539C>A | |
| 17 | g.73196733C= | CA2274432027 | COG1 | c.542C= (p.Ala181=) c.540C= c.539C= | |
| 17 | g.73196733C>G | CA400884069 | COG1 | c.542C>G (p.Ala181Gly) c.540C>G c.539C>G | |
| 17 | g.73196733C>T | CA8739985 | COG1 | c.542C>T (p.Ala181Val) c.540C>T c.539C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196733_73196734delinsTG | CA1139665866 | COG1 | c.542_543delinsTG (p.Ala181Val) c.540_541delinsTG c.539_540delinsTG | ClinVar |
| 17 | g.73196734A= | CA2274432028 | COG1 | c.543A= (p.Ala181=) c.541A= c.540A= | |
| 17 | g.73196734A>C | CA502026245 | COG1 | c.543A>C (p.Ala181=) c.541A>C c.540A>C | |
| 17 | g.73196734A>G | CA149041 | COG1 | c.543A>G (p.Ala181=) c.541A>G c.540A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196734A>T | CA502026246 | COG1 | c.543A>T (p.Ala181=) c.541A>T c.540A>T | gnomAD v4 |
| 17 | g.73196735G>A | CA400884072 | COG1 | c.544G>A (p.Ala182Thr) c.542G>A c.541G>A | gnomAD v4 |
| 17 | g.73196735G>C | CA400884075 | COG1 | c.544G>C (p.Ala182Pro) c.542G>C c.541G>C | gnomAD v2 gnomAD v4 |
| 17 | g.73196735G= | CA2274432029 | COG1 | c.544G= (p.Ala182=) c.542G= c.541G= | |
| 17 | g.73196735G>T | CA400884078 | COG1 | c.544G>T (p.Ala182Ser) c.542G>T c.541G>T | gnomAD v4 |
| 17 | g.73196736C>A | CA400884079 | COG1 | c.545C>A (p.Ala182Asp) c.543C>A c.542C>A | |
| 17 | g.73196736C>G | CA400884080 | COG1 | c.545C>G (p.Ala182Gly) c.543C>G c.542C>G | gnomAD v4 |
| 17 | g.73196736C>T | CA400884084 | COG1 | c.545C>T (p.Ala182Val) c.543C>T c.542C>T | gnomAD v4 |
| 17 | g.73196737dup | CA8739986 | COG1 | c.546dup (p.Ala183ArgfsTer11) c.544dup c.543dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196737C>A | CA502026250 | COG1 | c.546C>A (p.Ala182=) c.544C>A c.543C>A | |
| 17 | g.73196737C= | CA2274432030 | COG1 | c.546C= (p.Ala182=) c.544C= c.543C= | |
| 17 | g.73196737C>G | CA502026249 | COG1 | c.546C>G (p.Ala182=) c.544C>G c.543C>G | |
| 17 | g.73196737C>T | CA8739987 | COG1 | c.546C>T (p.Ala182=) c.544C>T c.543C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196738G>A | CA8739989 | COG1 | c.547G>A (p.Ala183Thr) c.545G>A c.544G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196738G>C | CA8739988 | COG1 | c.547G>C (p.Ala183Pro) c.545G>C c.544G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196738G= | CA2274432031 | COG1 | c.547G= (p.Ala183=) c.545G= c.544G= | |
| 17 | g.73196738G>T | CA400884103 | COG1 | c.547G>T (p.Ala183Ser) c.545G>T c.544G>T | |
| 17 | g.73196739C>A | CA400884108 | COG1 | c.548C>A (p.Ala183Asp) c.546C>A c.545C>A | |
| 17 | g.73196739C= | CA2274432032 | COG1 | c.548C= (p.Ala183=) c.546C= c.545C= | |
| 17 | g.73196739C>G | CA400884112 | COG1 | c.548C>G (p.Ala183Gly) c.546C>G c.545C>G | |
| 17 | g.73196739C>T | CA293799541 | COG1 | c.548C>T (p.Ala183Val) c.546C>T c.545C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196740C>A | CA502026255 | COG1 | c.549C>A (p.Ala183=) c.547C>A c.546C>A | |
| 17 | g.73196740C= | CA2274432033 | COG1 | c.549C= (p.Ala183=) c.547C= c.546C= | |
| 17 | g.73196740C>G | CA502026254 | COG1 | c.549C>G (p.Ala183=) c.547C>G c.546C>G | |
| 17 | g.73196740C>T | CA502026253 | COG1 | c.549C>T (p.Ala183=) c.547C>T c.546C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196741A>C | CA400884121 | COG1 | c.550A>C (p.Ser184Arg) c.548A>C c.547A>C | |
| 17 | g.73196741A>G | CA400884127 | COG1 | c.550A>G (p.Ser184Gly) c.548A>G c.547A>G | |
| 17 | g.73196741A>T | CA400884117 | COG1 | c.550A>T (p.Ser184Cys) c.548A>T c.547A>T | |
| 17 | g.73196742G>A | CA400884139 | COG1 | c.551G>A (p.Ser184Asn) c.549G>A c.548G>A | |
| 17 | g.73196742G>C | CA293799544 | COG1 | c.551G>C (p.Ser184Thr) c.549G>C c.548G>C | dbSNP gnomAD v4 |
| 17 | g.73196742G= | CA2274432034 | COG1 | c.551G= (p.Ser184=) c.549G= c.548G= | |
| 17 | g.73196742G>T | CA400884134 | COG1 | c.551G>T (p.Ser184Ile) c.549G>T c.548G>T | |
| 17 | g.73196743C>A | CA400884143 | COG1 | c.552C>A (p.Ser184Arg) c.550C>A c.549C>A | |
| 17 | g.73196743C= | CA2274432035 | COG1 | c.552C= (p.Ser184=) c.550C= c.549C= | |
| 17 | g.73196743C>G | CA400884145 | COG1 | c.552C>G (p.Ser184Arg) c.550C>G c.549C>G | |
| 17 | g.73196743C>T | CA502026256 | COG1 | c.552C>T (p.Ser184=) c.550C>T c.549C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.73196744C>A | CA8739990 | COG1 | c.553C>A (p.His185Asn) c.551C>A c.550C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196744C= | CA2274432036 | COG1 | c.553C= (p.His185=) c.551C= c.550C= | |
| 17 | g.73196744C>G | CA400884146 | COG1 | c.553C>G (p.His185Asp) c.551C>G c.550C>G | |
| 17 | g.73196744C>T | CA400884147 | COG1 | c.553C>T (p.His185Tyr) c.551C>T c.550C>T | gnomAD v4 |
| 17 | g.73196745A>C | CA400884152 | COG1 | c.554A>C (p.His185Pro) c.552A>C c.551A>C | |
| 17 | g.73196745A>G | CA400884157 | COG1 | c.554A>G (p.His185Arg) c.552A>G c.551A>G |