| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 22 | g.50624820T>C | CA2410958168 | ARSA | c.*325A>G (n.*325A>G) c.180+543A>G | dbSNP |
| 22 | g.50624820T= | CA2410958167 | ARSA | c.*325A= (n.*325A=) c.180+543A= | |
| 22 | g.50624822T>C | CA325531052 | ARSA | c.*323A>G (n.*323A>G) c.180+541A>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624822T= | CA2410958169 | ARSA | c.*323A= (n.*323A=) c.180+541A= | |
| 22 | g.50624829T>A | CA640051369 | ARSA | c.*316A>T (n.*316A>T) c.180+534A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624829T= | CA2410958170 | ARSA | c.*316A= (n.*316A=) c.180+534A= | |
| 22 | g.50624830G= | CA2410958171 | ARSA | c.*315C= (n.*315C=) c.180+533C= | |
| 22 | g.50624830G>T | CA2410958172 | ARSA | c.*315C>A (n.*315C>A) c.180+533C>A | dbSNP |
| 22 | g.50624833C>A | CA2410958174 | ARSA | c.*312G>T (n.*312G>T) c.180+530G>T | dbSNP |
| 22 | g.50624833C= | CA2410958173 | ARSA | c.*312G= (n.*312G=) c.180+530G= | |
| 22 | g.50624834C>A | CA2410958176 | ARSA | c.*311G>T (n.*311G>T) c.180+529G>T | dbSNP |
| 22 | g.50624834C= | CA2410958175 | ARSA | c.*311G= (n.*311G=) c.180+529G= | |
| 22 | g.50624836C= | CA2410958177 | ARSA | c.*309G= (n.*309G=) c.180+527G= | |
| 22 | g.50624836C>T | CA325531053 | ARSA | c.*309G>A (n.*309G>A) c.180+527G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624837G>A | CA325531055 | ARSA | c.*308C>T (n.*308C>T) c.180+526C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624837G= | CA2410958178 | ARSA | c.*308C= (n.*308C=) c.180+526C= | |
| 22 | g.50624838_50624839delinsCA | CA2410958179 | ARSA | c.*306_*307delinsTG (n.*306_*307delinsTG) c.180+524_180+525delinsTG | |
| 22 | g.50624839del | CA754066971 | ARSA | c.*306del (n.*306del) c.180+524del | dbSNP |
| 22 | g.50624839A= | CA2410958180 | ARSA | c.*306T= (n.*306T=) c.180+524T= | |
| 22 | g.50624839A>G | CA325531058 | ARSA | c.*306T>C (n.*306T>C) c.180+524T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624842T>C | CA754066982 | ARSA | c.*303A>G (n.*303A>G) c.180+521A>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624842T= | CA2410958181 | ARSA | c.*303A= (n.*303A=) c.180+521A= | |
| 22 | g.50624843C= | CA2410958182 | ARSA | c.*302G= (n.*302G=) c.180+520G= | |
| 22 | g.50624843C>T | CA640051370 | ARSA | c.*302G>A (n.*302G>A) c.180+520G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624844A= | CA2410958183 | ARSA | c.*301T= (n.*301T=) c.180+519T= | |
| 22 | g.50624844A>C | CA2410958184 | ARSA | c.*301T>G (n.*301T>G) c.180+519T>G | dbSNP |
| 22 | g.50624845C>A | CA2410958186 | ARSA | c.*300G>T (n.*300G>T) c.180+518G>T | dbSNP |
| 22 | g.50624845C= | CA2410958185 | ARSA | c.*300G= (n.*300G=) c.180+518G= | |
| 22 | g.50624845C>T | CA2410958187 | ARSA | c.*300G>A (n.*300G>A) c.180+518G>A | dbSNP |
| 22 | g.50624846C>A | CA754066998 | ARSA | c.*299G>T (n.*299G>T) c.180+517G>T | dbSNP |
| 22 | g.50624846C= | CA2410958188 | ARSA | c.*299G= (n.*299G=) c.180+517G= | |
| 22 | g.50624847A= | CA2410958189 | ARSA | c.*298T= (n.*298T=) c.180+516T= | |
| 22 | g.50624847A>G | CA2410958190 | ARSA | c.*298T>C (n.*298T>C) c.180+516T>C | dbSNP |