Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.73193276G>A | CA400879827 | COG1 | c.207G>A (p.Met69Ile) c.205G>A c.184G>A | |
17 | g.73193276G>C | CA400879829 | COG1 | c.207G>C (p.Met69Ile) c.205G>C c.184G>C | gnomAD v4 |
17 | g.73193276G>T | CA400879826 | COG1 | c.207G>T (p.Met69Ile) c.205G>T c.184G>T | gnomAD v4 |
17 | g.73193277C>A | CA400879834 | COG1 | c.208C>A (p.Arg70Ser) c.206C>A c.185C>A | |
17 | g.73193277C>G | CA400879838 | COG1 | c.208C>G (p.Arg70Gly) c.206C>G c.185C>G | |
17 | g.73193277C>T | CA400879842 | COG1 | c.208C>T (p.Arg70Cys) c.206C>T c.185C>T | gnomAD v4 |
17 | g.73193278G>A | CA400879851 | COG1 | c.209G>A (p.Arg70His) c.207G>A c.186G>A | dbSNP gnomAD v4 |
17 | g.73193278G>C | CA400879854 | COG1 | c.209G>C (p.Arg70Pro) c.207G>C c.186G>C | |
17 | g.73193278G= | CA2274430362 | COG1 | c.209G= (p.Arg70=) c.207G= c.186G= | |
17 | g.73193278G>T | CA400879856 | COG1 | c.209G>T (p.Arg70Leu) c.207G>T c.186G>T | |
17 | g.73193279C>A | CA502026755 | COG1 | c.210C>A (p.Arg70=) c.208C>A c.187C>A | |
17 | g.73193279C= | CA2274430363 | COG1 | c.210C= (p.Arg70=) c.208C= c.187C= | |
17 | g.73193279C>G | CA8739904 | COG1 | c.210C>G (p.Arg70=) c.208C>G c.187C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73193279C>T | CA502026756 | COG1 | c.210C>T (p.Arg70=) c.208C>T c.187C>T | gnomAD v4 |
17 | g.73193280C>A | CA400879864 | COG1 | c.211C>A (p.Arg71Ser) c.209C>A c.188C>A | dbSNP |
17 | g.73193280C= | CA2274430364 | COG1 | c.211C= (p.Arg71=) c.209C= c.188C= | |
17 | g.73193280C>G | CA400879868 | COG1 | c.211C>G (p.Arg71Gly) c.209C>G c.188C>G | gnomAD v4 |
17 | g.73193280C>T | CA400879870 | COG1 | c.211C>T (p.Arg71Cys) c.209C>T c.188C>T | |
17 | g.73193281G>A | CA293797074 | COG1 | c.212G>A (p.Arg71His) c.210G>A c.189G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73193281G>C | CA400879874 | COG1 | c.212G>C (p.Arg71Pro) c.210G>C c.189G>C | |
17 | g.73193281G= | CA2274430365 | COG1 | c.212G= (p.Arg71=) c.210G= c.189G= | |
17 | g.73193281G>T | CA400879875 | COG1 | c.212G>T (p.Arg71Leu) c.210G>T c.189G>T | gnomAD v4 |
17 | g.73193282C>A | CA502026757 | COG1 | c.213C>A (p.Arg71=) c.211C>A c.190C>A | gnomAD v4 |
17 | g.73193282C= | CA2274430366 | COG1 | c.213C= (p.Arg71=) c.211C= c.190C= | |
17 | g.73193282C>G | CA502026758 | COG1 | c.213C>G (p.Arg71=) c.211C>G c.190C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73193282C>T | CA502026759 | COG1 | c.213C>T (p.Arg71=) c.211C>T c.190C>T | |
17 | g.73193283T>A | CA400879876 | COG1 | c.214T>A (p.Cys72Ser) c.212T>A c.191T>A | |
17 | g.73193283T>C | CA400879880 | COG1 | c.214T>C (p.Cys72Arg) c.212T>C c.191T>C | |
17 | g.73193283T>G | CA400879877 | COG1 | c.214T>G (p.Cys72Gly) c.212T>G c.191T>G | |
17 | g.73193284G>A | CA400879887 | COG1 | c.215G>A (p.Cys72Tyr) c.213G>A c.192G>A | dbSNP gnomAD v4 |
17 | g.73193284G>C | CA400879888 | COG1 | c.215G>C (p.Cys72Ser) c.213G>C c.192G>C | |
17 | g.73193284G= | CA2274430367 | COG1 | c.215G= (p.Cys72=) c.213G= c.192G= | |
17 | g.73193284G>T | CA400879891 | COG1 | c.215G>T (p.Cys72Phe) c.213G>T c.192G>T | gnomAD v4 |
17 | g.73193285C>A | CA400879894 | COG1 | c.216C>A (p.Cys72Ter) c.214C>A c.193C>A | gnomAD v4 |
17 | g.73193285C= | CA2274430368 | COG1 | c.216C= (p.Cys72=) c.214C= c.193C= | |
17 | g.73193285C>G | CA400879897 | COG1 | c.216C>G (p.Cys72Trp) c.214C>G c.193C>G | |
17 | g.73193285C>T | CA8739905 | COG1 | c.216C>T (p.Cys72=) c.214C>T c.193C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73193286G>A | CA400879904 | COG1 | c.217G>A (p.Ala73Thr) c.215G>A c.194G>A | dbSNP gnomAD v4 |
17 | g.73193286G>C | CA400879907 | COG1 | c.217G>C (p.Ala73Pro) c.215G>C c.194G>C | gnomAD v4 |
17 | g.73193286G>T | CA400879910 | COG1 | c.217G>T (p.Ala73Ser) c.215G>T c.194G>T | gnomAD v4 |
17 | g.73193287C>A | CA400879917 | COG1 | c.218C>A (p.Ala73Asp) c.216C>A c.195C>A | ClinVar gnomAD v4 |
17 | g.73193287C>G | CA400879929 | COG1 | c.218C>G (p.Ala73Gly) c.216C>G c.195C>G | |
17 | g.73193287C>T | CA400879933 | COG1 | c.218C>T (p.Ala73Val) c.216C>T c.195C>T | |
17 | g.73193288C>A | CA502026760 | COG1 | c.219C>A (p.Ala73=) c.217C>A c.196C>A | |
17 | g.73193288C= | CA2274430369 | COG1 | c.219C= (p.Ala73=) c.217C= c.196C= | |
17 | g.73193288C>G | CA8739906 | COG1 | c.219C>G (p.Ala73=) c.217C>G c.196C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73193288C>T | CA502026761 | COG1 | c.219C>T (p.Ala73=) c.217C>T c.196C>T | gnomAD v4 |
17 | g.73193289G>A | CA400879942 | COG1 | c.220G>A (p.Val74Met) c.218G>A c.197G>A | gnomAD v4 |
17 | g.73193289G>C | CA293797101 | COG1 | c.220G>C (p.Val74Leu) c.218G>C c.197G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73193289G= | CA2274430370 | COG1 | c.220G= (p.Val74=) c.218G= c.197G= |