Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
17 | g.73193385G= | CA2274430424 | COG1 | c.315+1G= (n.315+1G=) c.313+1G= c.292+1G= | |
17 | g.73193385G>T | CA400881053 | COG1 | c.315+1G>T (n.315+1G>T) c.313+1G>T c.292+1G>T | gnomAD v4 |
17 | g.73193386T>A | CA400881061 | COG1 | c.315+2T>A (n.315+2T>A) c.313+2T>A c.292+2T>A | |
17 | g.73193386T>C | CA400881071 | COG1 | c.315+2T>C (n.315+2T>C) c.313+2T>C c.292+2T>C | gnomAD v4 |
17 | g.73193386T>G | CA400881073 | COG1 | c.315+2T>G (n.315+2T>G) c.313+2T>G c.292+2T>G | |
17 | g.73193387C>A | CA2639622390 | COG1 | c.315+3C>A (n.315+3C>A) c.313+3C>A c.292+3C>A | gnomAD v4 |
17 | g.73193388A>G | CA2639622391 | COG1 | c.315+4A>G (n.315+4A>G) c.313+4A>G c.292+4A>G | gnomAD v4 |
17 | g.73193389G>A | CA2639622392 | COG1 | c.315+5G>A (n.315+5G>A) c.313+5G>A c.292+5G>A | gnomAD v4 |
17 | g.73193389G>T | CA2639622393 | COG1 | c.315+5G>T (n.315+5G>T) c.313+5G>T c.292+5G>T | gnomAD v4 |
17 | g.73193390T>C | CA2639622394 | COG1 | c.315+6T>C (n.315+6T>C) c.313+6T>C c.292+6T>C | gnomAD v4 |
17 | g.73193390T>G | CA2639622396 | COG1 | c.315+6T>G (n.315+6T>G) c.313+6T>G c.292+6T>G | gnomAD v4 |
17 | g.73193391C>A | CA2639622399 | COG1 | c.315+7C>A (n.315+7C>A) c.313+7C>A c.292+7C>A | gnomAD v4 |
17 | g.73193391C>T | CA2639622400 | COG1 | c.315+7C>T (n.315+7C>T) c.313+7C>T c.292+7C>T | gnomAD v4 |
17 | g.73193394del | CA2576374949 | COG1 | c.315+10del (n.315+10del) c.313+10del c.292+10del | gnomAD v4 |
17 | g.73193392C>A | CA2639622403 | COG1 | c.315+8C>A (n.315+8C>A) c.313+8C>A c.292+8C>A | gnomAD v4 |