| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50624996_50625006dup | CA2657590212 | ARSA | c.*142_*152dup (n.*142_*152dup) c.180+360_180+370dup | 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 |
| 22 | g.50625013A>G | CA2657590260 | ARSA | c.*132T>C (n.*132T>C) c.180+350T>C | gnomAD v4 |
| 22 | g.50625014C>A | CA2657590264 | ARSA | c.*131G>T (n.*131G>T) c.180+349G>T | gnomAD v4 |
| 22 | g.50625014C= | CA2410958257 | ARSA | c.*131G= (n.*131G=) c.180+349G= | |
| 22 | g.50625014C>T | CA325531099 | ARSA | c.*131G>A (n.*131G>A) c.180+349G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625015G>A | CA1026680030 | ARSA | c.*130C>T (n.*130C>T) c.180+348C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625015G= | CA2410958258 | ARSA | c.*130C= (n.*130C=) c.180+348C= | |
| 22 | g.50625015G>T | CA10645794 | ARSA | c.*130C>A (n.*130C>A) c.180+348C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625016A>G | CA2657590273 | ARSA | c.*129T>C (n.*129T>C) c.180+347T>C | gnomAD v4 |
| 22 | g.50625018T>A | CA325531102 | ARSA | c.*127A>T (n.*127A>T) c.180+345A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625018T>C | CA754067086 | ARSA | c.*127A>G (n.*127A>G) c.180+345A>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625018T= | CA2410958259 | ARSA | c.*127A= (n.*127A=) c.180+345A= | |
| 22 | g.50625020G>A | CA2657590286 | ARSA | c.*125C>T (n.*125C>T) c.180+343C>T | gnomAD v4 |
| 22 | g.50625020G>C | CA10654224 | ARSA | c.*125C>G (n.*125C>G) c.180+343C>G | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625020G= | CA2410958260 | ARSA | c.*125C= (n.*125C=) c.180+343C= | |
| 22 | g.50625020G>T | CA2657590288 | ARSA | c.*125C>A (n.*125C>A) c.180+343C>A | gnomAD v4 |
| 22 | g.50625021T>C | CA2657590290 | ARSA | c.*124A>G (n.*124A>G) c.180+342A>G c.*387A>G (n.*387A>G) | gnomAD v4 |
| 22 | g.50625023A= | CA2410958261 | ARSA | c.*122T= (n.*122T=) c.180+340T= c.*385T= (n.*385T=) | |
| 22 | g.50625023A>C | CA325531105 | ARSA | c.*122T>G (n.*122T>G) c.180+340T>G c.*385T>G (n.*385T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625023A>T | CA2657590298 | ARSA | c.*122T>A (n.*122T>A) c.180+340T>A c.*385T>A (n.*385T>A) | gnomAD v4 |
| 22 | g.50625024C>A | CA2410958263 | ARSA | c.*121G>T (n.*121G>T) c.180+339G>T c.*384G>T (n.*384G>T) | dbSNP gnomAD v4 |
| 22 | g.50625024C= | CA2410958262 | ARSA | c.*121G= (n.*121G=) c.180+339G= c.*384G= (n.*384G=) | |
| 22 | g.50625024C>T | CA640051378 | ARSA | c.*121G>A (n.*121G>A) c.180+339G>A c.*384G>A (n.*384G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625025A= | CA2410958264 | ARSA | c.*120T= (n.*120T=) c.180+338T= c.*383T= (n.*383T=) | |
| 22 | g.50625025A>G | CA754067095 | ARSA | c.*120T>C (n.*120T>C) c.180+338T>C c.*383T>C (n.*383T>C) | dbSNP gnomAD v4 |
| 22 | g.50625026T>A | CA754067099 | ARSA | c.*119A>T (n.*119A>T) c.180+337A>T c.*382A>T (n.*382A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625026T= | CA2410958266 | ARSA | c.*119A= (n.*119A=) c.180+337A= c.*382A= (n.*382A=) | |
| 22 | g.50625026_50625027delinsTC | CA2410958265 | ARSA | c.*118_*119delinsGA (n.*118_*119delinsGA) c.180+336_180+337delinsGA c.*381_*382delinsGA (n.*381_*382delinsGA) | |
| 22 | g.50625027del | CA325531107 | ARSA | c.*118del (n.*118del) c.180+336del c.*381del (n.*381del) | dbSNP gnomAD v4 |