| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.73193272A>C | CA400879795 | COG1 | c.203A>C (p.Gln68Pro) c.201A>C c.180A>C | |
| 17 | g.73193272A>G | CA400879798 | COG1 | c.203A>G (p.Gln68Arg) c.201A>G c.180A>G | |
| 17 | g.73193272A>T | CA400879800 | COG1 | c.203A>T (p.Gln68Leu) c.201A>T c.180A>T | |
| 17 | g.73193273G>A | CA502026754 | COG1 | c.204G>A (p.Gln68=) c.202G>A c.181G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193273G>C | CA400879804 | COG1 | c.204G>C (p.Gln68His) c.202G>C c.181G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193273G= | CA2274430359 | COG1 | c.204G= (p.Gln68=) c.202G= c.181G= | |
| 17 | g.73193273G>T | CA400879806 | COG1 | c.204G>T (p.Gln68His) c.202G>T c.181G>T | |
| 17 | g.73193274A= | CA2274430360 | COG1 | c.205A= (p.Met69=) c.203A= c.182A= | |
| 17 | g.73193274A>C | CA8739903 | COG1 | c.205A>C (p.Met69Leu) c.203A>C c.182A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193274A>G | CA400879812 | COG1 | c.205A>G (p.Met69Val) c.203A>G c.182A>G | |
| 17 | g.73193274A>T | CA400879815 | COG1 | c.205A>T (p.Met69Leu) c.203A>T c.182A>T | |
| 17 | g.73193275T>A | CA400879818 | COG1 | c.206T>A (p.Met69Lys) c.204T>A c.183T>A | |
| 17 | g.73193275T>C | CA400879822 | COG1 | c.206T>C (p.Met69Thr) c.204T>C c.183T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193275T>G | CA400879825 | COG1 | c.206T>G (p.Met69Arg) c.204T>G c.183T>G | |
| 17 | g.73193275T= | CA2274430361 | COG1 | c.206T= (p.Met69=) c.204T= c.183T= | |
| 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= |