| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.73193372G>A | CA10640464 | COG1 | c.303G>A (p.Pro101=) c.301G>A c.280G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193372G>C | CA501714445 | COG1 | c.303G>C (p.Pro101=) c.301G>C c.280G>C | |
| 17 | g.73193372G= | CA2274430416 | COG1 | c.303G= (p.Pro101=) c.301G= c.280G= | |
| 17 | g.73193372G>T | CA501714448 | COG1 | c.303G>T (p.Pro101=) c.301G>T c.280G>T | dbSNP gnomAD v4 |
| 17 | g.73193373C>A | CA501714451 | COG1 | c.304C>A (p.Arg102=) c.302C>A c.281C>A | gnomAD v4 |
| 17 | g.73193373C= | CA2274430417 | COG1 | c.304C= (p.Arg102=) c.302C= c.281C= | |
| 17 | g.73193373C>G | CA400880832 | COG1 | c.304C>G (p.Arg102Gly) c.302C>G c.281C>G | gnomAD v4 |
| 17 | g.73193373C>T | CA400880839 | COG1 | c.304C>T (p.Arg102Trp) c.302C>T c.281C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73193374G>A | CA400880878 | COG1 | c.305G>A (p.Arg102Gln) c.303G>A c.282G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193374G>C | CA400880880 | COG1 | c.305G>C (p.Arg102Pro) c.303G>C c.282G>C | ClinVar dbSNP |
| 17 | g.73193374G= | CA2274430418 | COG1 | c.305G= (p.Arg102=) c.303G= c.282G= | |
| 17 | g.73193374G>T | CA400880845 | COG1 | c.305G>T (p.Arg102Leu) c.303G>T c.282G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193375G>A | CA501714462 | COG1 | c.306G>A (p.Arg102=) c.304G>A c.283G>A | gnomAD v4 |
| 17 | g.73193375G>C | CA501714466 | COG1 | c.306G>C (p.Arg102=) c.304G>C c.283G>C | |
| 17 | g.73193375G>T | CA501714469 | COG1 | c.306G>T (p.Arg102=) c.304G>T c.283G>T | |
| 17 | g.73193376G>A | CA400880901 | COG1 | c.307G>A (p.Ala103Thr) c.305G>A c.284G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193376G>C | CA400880923 | COG1 | c.307G>C (p.Ala103Pro) c.305G>C c.284G>C | |
| 17 | g.73193376G= | CA2274430419 | COG1 | c.307G= (p.Ala103=) c.305G= c.284G= | |
| 17 | g.73193376G>T | CA400880908 | COG1 | c.307G>T (p.Ala103Ser) c.305G>T c.284G>T | gnomAD v4 |
| 17 | g.73193377C>A | CA400880928 | COG1 | c.308C>A (p.Ala103Asp) c.306C>A c.285C>A | gnomAD v4 |
| 17 | g.73193377C= | CA2274430420 | COG1 | c.308C= (p.Ala103=) c.306C= c.285C= | |
| 17 | g.73193377C>G | CA400880933 | COG1 | c.308C>G (p.Ala103Gly) c.306C>G c.285C>G | |
| 17 | g.73193377C>T | CA400880931 | COG1 | c.308C>T (p.Ala103Val) c.306C>T c.285C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193378C>A | CA501714497 | COG1 | c.309C>A (p.Ala103=) c.307C>A c.286C>A | gnomAD v4 |
| 17 | g.73193378C>G | CA501714496 | COG1 | c.309C>G (p.Ala103=) c.307C>G c.286C>G | |
| 17 | g.73193378C>T | CA501714495 | COG1 | c.309C>T (p.Ala103=) c.307C>T c.286C>T | gnomAD v4 |
| 17 | g.73193379C>A | CA400880941 | COG1 | c.310C>A (p.Gln104Lys) c.308C>A c.287C>A | |
| 17 | g.73193379C>G | CA400880948 | COG1 | c.310C>G (p.Gln104Glu) c.308C>G c.287C>G | |
| 17 | g.73193379C>T | CA400880952 | COG1 | c.310C>T (p.Gln104Ter) c.308C>T c.287C>T | gnomAD v4 |
| 17 | g.73193380A= | CA2274430421 | COG1 | c.311A= (p.Gln104=) c.309A= c.288A= | |
| 17 | g.73193380A>C | CA400880959 | COG1 | c.311A>C (p.Gln104Pro) c.309A>C c.288A>C | |
| 17 | g.73193380A>G | CA400880974 | COG1 | c.311A>G (p.Gln104Arg) c.309A>G c.288A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193380A>T | CA400880978 | COG1 | c.311A>T (p.Gln104Leu) c.309A>T c.288A>T | |
| 17 | g.73193381G>A | CA501714512 | COG1 | c.312G>A (p.Gln104=) c.310G>A c.289G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193381G>C | CA400880982 | COG1 | c.312G>C (p.Gln104His) c.310G>C c.289G>C | |
| 17 | g.73193381G= | CA2274430422 | COG1 | c.312G= (p.Gln104=) c.310G= c.289G= | |
| 17 | g.73193381G>T | CA400880991 | COG1 | c.312G>T (p.Gln104His) c.310G>T c.289G>T | |
| 17 | g.73193381_73193401dup | CA2639622377 | COG1 | c.312_315+17dup c.310_313+17dup c.289_292+17dup | gnomAD v4 |
| 17 | g.73193382C>A | CA400880996 | COG1 | c.313C>A (p.Gln105Lys) c.311C>A c.290C>A | gnomAD v4 |
| 17 | g.73193382C>G | CA400880999 | COG1 | c.313C>G (p.Gln105Glu) c.311C>G c.290C>G | |
| 17 | g.73193382C>T | CA400881004 | COG1 | c.313C>T (p.Gln105Ter) c.311C>T c.290C>T | gnomAD v4 |
| 17 | g.73193383A= | CA2274430423 | COG1 | c.314A= (p.Gln105=) c.312A= c.291A= | |
| 17 | g.73193383A>C | CA400881034 | COG1 | c.314A>C (p.Gln105Pro) c.312A>C c.291A>C | |
| 17 | g.73193383A>G | CA293797211 | COG1 | c.314A>G (p.Gln105Arg) c.312A>G c.291A>G | dbSNP gnomAD v4 |
| 17 | g.73193383A>T | CA400881010 | COG1 | c.314A>T (p.Gln105Leu) c.312A>T c.291A>T | |
| 17 | g.73193384G>A | CA501714525 | COG1 | c.315G>A (p.Gln105=) c.313G>A c.292G>A | gnomAD v4 |
| 17 | g.73193384G>C | CA400881043 | COG1 | c.315G>C (p.Gln105His) c.313G>C c.292G>C | |
| 17 | g.73193384G>T | CA400881047 | COG1 | c.315G>T (p.Gln105His) c.313G>T c.292G>T | gnomAD v4 |
| 17 | g.73193385G>A | CA400881048 | COG1 | c.315+1G>A (n.315+1G>A) c.313+1G>A c.292+1G>A | gnomAD v4 |
| 17 | g.73193385G>C | CA400881049 | COG1 | c.315+1G>C (n.315+1G>C) c.313+1G>C c.292+1G>C | dbSNP |