| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50624986C>A | CA2657590193 | ARSA | c.*159G>T (n.*159G>T) c.180+377G>T | gnomAD v4 |
| 22 | g.50624986C= | CA2410958246 | ARSA | c.*159G= (n.*159G=) c.180+377G= | |
| 22 | g.50624986C>T | CA325531092 | ARSA | c.*159G>A (n.*159G>A) c.180+377G>A | dbSNP gnomAD v4 |
| 22 | g.50624987A= | CA2410958247 | ARSA | c.*158T= (n.*158T=) c.180+376T= | |
| 22 | g.50624987A>G | CA325531094 | ARSA | c.*158T>C (n.*158T>C) c.180+376T>C | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624987A>T | CA2657590198 | ARSA | c.*158T>A (n.*158T>A) c.180+376T>A | gnomAD v4 |
| 22 | g.50624988G>A | CA2657590200 | ARSA | c.*157C>T (n.*157C>T) c.180+375C>T | gnomAD v4 |
| 22 | g.50624988G>T | CA2657590202 | ARSA | c.*157C>A (n.*157C>A) c.180+375C>A | gnomAD v4 |
| 22 | g.50624989C>A | CA2657590203 | ARSA | c.*156G>T (n.*156G>T) c.180+374G>T | gnomAD v4 |
| 22 | g.50624989C>T | CA2657590204 | ARSA | c.*156G>A (n.*156G>A) c.180+374G>A | gnomAD v4 |
| 22 | g.50624991C>A | CA2657590205 | ARSA | c.*154G>T (n.*154G>T) c.180+372G>T | gnomAD v4 |
| 22 | g.50624991C>T | CA2657590206 | ARSA | c.*154G>A (n.*154G>A) c.180+372G>A | gnomAD v4 |
| 22 | g.50624992A= | CA2410958248 | ARSA | c.*153T= (n.*153T=) c.180+371T= | |
| 22 | g.50624992A>G | CA325531097 | ARSA | c.*153T>C (n.*153T>C) c.180+371T>C | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624993C>A | CA2657590213 | ARSA | c.*152G>T (n.*152G>T) c.180+370G>T | gnomAD v4 |
| 22 | g.50624993C>T | CA2657590215 | ARSA | c.*152G>A (n.*152G>A) c.180+370G>A | gnomAD v4 |
| 22 | g.50624996_50625006dup | CA2657590212 | ARSA | c.*142_*152dup (n.*142_*152dup) c.180+360_180+370dup | gnomAD v4 |
| 22 | g.50624994A>G | CA2657590217 | ARSA | c.*151T>C (n.*151T>C) c.180+369T>C | gnomAD v4 |
| 22 | g.50624995G>A | CA657868291 | ARSA | c.*150C>T (n.*150C>T) c.180+368C>T | gnomAD v4 COSMIC |
| 22 | g.50624995G>T | CA2657590219 | ARSA | c.*150C>A (n.*150C>A) c.180+368C>A | gnomAD v4 |
| 22 | g.50624996C>A | CA2657590221 | ARSA | c.*149G>T (n.*149G>T) c.180+367G>T | gnomAD v4 |
| 22 | g.50624996C>T | CA2657590222 | ARSA | c.*149G>A (n.*149G>A) c.180+367G>A | gnomAD v4 |
| 22 | g.50624998T>C | CA2657590223 | ARSA | c.*147A>G (n.*147A>G) c.180+365A>G | gnomAD v4 |
| 22 | g.50624999T>C | CA2657590224 | ARSA | c.*146A>G (n.*146A>G) c.180+364A>G | gnomAD v4 |
| 22 | g.50625000del | CA2657590225 | ARSA | c.*145del (n.*145del) c.180+363del | gnomAD v4 |
| 22 | g.50625000A>G | CA2657590226 | ARSA | c.*145T>C (n.*145T>C) c.180+363T>C | gnomAD v4 |
| 22 | g.50625001C>A | CA2657590232 | ARSA | c.*144G>T (n.*144G>T) c.180+362G>T | gnomAD v4 |
| 22 | g.50625001C= | CA2410958249 | ARSA | c.*144G= (n.*144G=) c.180+362G= | |
| 22 | g.50625001C>T | CA2410958250 | ARSA | c.*144G>A (n.*144G>A) c.180+362G>A | dbSNP gnomAD v4 |
| 22 | g.50625004del | CA2657590234 | ARSA | c.*144del (n.*144del) c.180+362del | gnomAD v4 |
| 22 | g.50625002C>A | CA2657590236 | ARSA | c.*143G>T (n.*143G>T) c.180+361G>T | gnomAD v4 |
| 22 | g.50625002C= | CA2410958251 | ARSA | c.*143G= (n.*143G=) c.180+361G= | |
| 22 | g.50625002C>G | CA640051376 | ARSA | c.*143G>C (n.*143G>C) c.180+361G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625003C>A | CA2657590238 | ARSA | c.*142G>T (n.*142G>T) c.180+360G>T | gnomAD v4 |
| 22 | g.50625003C>T | CA2657590239 | ARSA | c.*142G>A (n.*142G>A) c.180+360G>A | gnomAD v4 |
| 22 | g.50625004C>A | CA754067066 | ARSA | c.*141G>T (n.*141G>T) c.180+359G>T | dbSNP gnomAD v4 |
| 22 | g.50625004C= | CA2410958252 | ARSA | c.*141G= (n.*141G=) c.180+359G= | |
| 22 | g.50625005A>G | CA2657590242 | ARSA | c.*140T>C (n.*140T>C) c.180+358T>C | gnomAD v4 |
| 22 | g.50625006G>A | CA640051377 | ARSA | c.*139C>T (n.*139C>T) c.180+357C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625006G>C | CA1026680021 | ARSA | c.*139C>G (n.*139C>G) c.180+357C>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625006G= | CA2410958253 | ARSA | c.*139C= (n.*139C=) c.180+357C= | |
| 22 | g.50625006G>T | CA2657590248 | ARSA | c.*139C>A (n.*139C>A) c.180+357C>A | gnomAD v4 |
| 22 | g.50625007G>A | CA2410958255 | ARSA | c.*138C>T (n.*138C>T) c.180+356C>T | dbSNP gnomAD v4 |
| 22 | g.50625007G= | CA2410958254 | ARSA | c.*138C= (n.*138C=) c.180+356C= | |
| 22 | g.50625007G>T | CA2657590251 | ARSA | c.*138C>A (n.*138C>A) c.180+356C>A | gnomAD v4 |
| 22 | g.50625009T>C | CA2657590252 | ARSA | c.*136A>G (n.*136A>G) c.180+354A>G | gnomAD v4 |
| 22 | g.50625011G>A | CA754067073 | ARSA | c.*134C>T (n.*134C>T) c.180+352C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625011G= | CA2410958256 | ARSA | c.*134C= (n.*134C=) c.180+352C= | |
| 22 | g.50625011G>T | CA2657590256 | ARSA | c.*134C>A (n.*134C>A) c.180+352C>A | gnomAD v4 |
| 22 | g.50625012G>T | CA2657590259 | ARSA | c.*133C>A (n.*133C>A) c.180+351C>A | gnomAD v4 |