| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50624756T>C | CA325531037 | ARSA | c.*389A>G (n.*389A>G) c.180+607A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624756T= | CA2410958138 | ARSA | c.*389A= (n.*389A=) c.180+607A= | |
| 22 | g.50624758A= | CA2410958139 | ARSA | c.*387T= (n.*387T=) c.180+605T= | |
| 22 | g.50624758A>G | CA2410958140 | ARSA | c.*387T>C (n.*387T>C) c.180+605T>C | dbSNP |
| 22 | g.50624760A= | CA2410958141 | ARSA | c.*385T= (n.*385T=) c.180+603T= | |
| 22 | g.50624760A>G | CA754066939 | ARSA | c.*385T>C (n.*385T>C) c.180+603T>C | dbSNP |
| 22 | g.50624765C= | CA2410958142 | ARSA | c.*380G= (n.*380G=) c.180+598G= | |
| 22 | g.50624765C>T | CA754066951 | ARSA | c.*380G>A (n.*380G>A) c.180+598G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624766G>A | CA640051366 | ARSA | c.*379C>T (n.*379C>T) c.180+597C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624766G>C | CA1026679914 | ARSA | c.*379C>G (n.*379C>G) c.180+597C>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624766G= | CA2410958143 | ARSA | c.*379C= (n.*379C=) c.180+597C= | |
| 22 | g.50624768G>A | CA325531038 | ARSA | c.*377C>T (n.*377C>T) c.180+595C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624768G= | CA2410958144 | ARSA | c.*377C= (n.*377C=) c.180+595C= | |
| 22 | g.50624770C= | CA2410958145 | ARSA | c.*375G= (n.*375G=) c.180+593G= | |
| 22 | g.50624770C>T | CA754066953 | ARSA | c.*375G>A (n.*375G>A) c.180+593G>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624771G>A | CA325531040 | ARSA | c.*374C>T (n.*374C>T) c.180+592C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624771G= | CA2410958146 | ARSA | c.*374C= (n.*374C=) c.180+592C= | |
| 22 | g.50624781T>C | CA640051367 | ARSA | c.*364A>G (n.*364A>G) c.180+582A>G | gnomAD v2 |
| 22 | g.50624782G>C | CA1026679921 | ARSA | c.*363C>G (n.*363C>G) c.180+581C>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624782G= | CA2410958147 | ARSA | c.*363C= (n.*363C=) c.180+581C= | |
| 22 | g.50624783A>G | CA2738228866 | ARSA | c.*362T>C (n.*362T>C) c.180+580T>C | dbSNP |
| 22 | g.50624788A= | CA2410958148 | ARSA | c.*357T= (n.*357T=) c.180+575T= | |
| 22 | g.50624788A>T | CA2410958149 | ARSA | c.*357T>A (n.*357T>A) c.180+575T>A | dbSNP |
| 22 | g.50624792G>A | CA640051368 | ARSA | c.*353C>T (n.*353C>T) c.180+571C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624792G= | CA2410958150 | ARSA | c.*353C= (n.*353C=) c.180+571C= | |
| 22 | g.50624793C= | CA2410958151 | ARSA | c.*352G= (n.*352G=) c.180+570G= | |
| 22 | g.50624793C>T | CA754066957 | ARSA | c.*352G>A (n.*352G>A) c.180+570G>A | dbSNP |
| 22 | g.50624794C= | CA2410958152 | ARSA | c.*351G= (n.*351G=) c.180+569G= | |
| 22 | g.50624794C>T | CA2410958153 | ARSA | c.*351G>A (n.*351G>A) c.180+569G>A | dbSNP |
| 22 | g.50624796A= | CA2410958154 | ARSA | c.*349T= (n.*349T=) c.180+567T= | |
| 22 | g.50624796A>G | CA2410958155 | ARSA | c.*349T>C (n.*349T>C) c.180+567T>C | dbSNP |
| 22 | g.50624797T>C | CA754066958 | ARSA | c.*348A>G (n.*348A>G) c.180+566A>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624797T= | CA2410958156 | ARSA | c.*348A= (n.*348A=) c.180+566A= | |
| 22 | g.50624798G>C | CA2410958158 | ARSA | c.*347C>G (n.*347C>G) c.180+565C>G | dbSNP |
| 22 | g.50624798G= | CA2410958157 | ARSA | c.*347C= (n.*347C=) c.180+565C= | |
| 22 | g.50624803T>C | CA10645792 | ARSA | c.*342A>G (n.*342A>G) c.180+560A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624803T= | CA2410958159 | ARSA | c.*342A= (n.*342A=) c.180+560A= | |
| 22 | g.50624805A= | CA2410958160 | ARSA | c.*340T= (n.*340T=) c.180+558T= | |
| 22 | g.50624805A>C | CA325531043 | ARSA | c.*340T>G (n.*340T>G) c.180+558T>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624805A>T | CA10653699 | ARSA | c.*340T>A (n.*340T>A) c.180+558T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624812C= | CA2410958161 | ARSA | c.*333G= (n.*333G=) c.180+551G= | |
| 22 | g.50624812C>T | CA325531045 | ARSA | c.*333G>A (n.*333G>A) c.180+551G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624813G>A | CA10651569 | ARSA | c.*332C>T (n.*332C>T) c.180+550C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624813G= | CA2410958162 | ARSA | c.*332C= (n.*332C=) c.180+550C= | |
| 22 | g.50624817G>A | CA325531047 | ARSA | c.*328C>T (n.*328C>T) c.180+546C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624817G= | CA2410958163 | ARSA | c.*328C= (n.*328C=) c.180+546C= | |
| 22 | g.50624818C= | CA2410958165 | ARSA | c.*327G= (n.*327G=) c.180+545G= | |
| 22 | g.50624818C>G | CA2410958164 | ARSA | c.*327G>C (n.*327G>C) c.180+545G>C | dbSNP |
| 22 | g.50624819C= | CA2410958166 | ARSA | c.*326G= (n.*326G=) c.180+544G= | |
| 22 | g.50624819C>G | CA325531050 | ARSA | c.*326G>C (n.*326G>C) c.180+544G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |