| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50627268T>A | CA515391499 | ARSA | c.363A>T (p.Gly121=) c.105A>T (p.Gly35=) n.754A>T | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627268T>C | CA10325044 | ARSA | c.363A>G (p.Gly121=) c.105A>G (p.Gly35=) n.754A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627268T>G | CA515391500 | ARSA | c.363A>C (p.Gly121=) c.105A>C (p.Gly35=) n.754A>C | dbSNP |
| 22 | g.50627268T= | CA2410959519 | ARSA | c.363A= (p.Gly121=) c.105A= (p.Gly35=) n.754A= | |
| 22 | g.50627269C>A | CA412180843 | ARSA | c.362G>T (p.Gly121Val) c.104G>T (p.Gly35Val) n.753G>T | gnomAD v4 |
| 22 | g.50627269C>G | CA412180848 | ARSA | c.362G>C (p.Gly121Ala) c.104G>C (p.Gly35Ala) n.753G>C | |
| 22 | g.50627269C>T | CA412180850 | ARSA | c.362G>A (p.Gly121Glu) c.104G>A (p.Gly35Glu) n.753G>A | |
| 22 | g.50627270C>A | CA412180855 | ARSA | c.361G>T (p.Gly121Ter) c.103G>T (p.Gly35Ter) n.752G>T | |
| 22 | g.50627270C= | CA2410959520 | ARSA | c.361G= (p.Gly121=) c.103G= (p.Gly35=) n.752G= | |
| 22 | g.50627270C>G | CA412180857 | ARSA | c.361G>C (p.Gly121Arg) c.103G>C (p.Gly35Arg) n.752G>C | gnomAD v4 |
| 22 | g.50627270C>T | CA219016 | ARSA | c.361G>A (p.Gly121Arg) c.103G>A (p.Gly35Arg) n.752G>A | ClinVar dbSNP |
| 22 | g.50627271T>A | CA515391503 | ARSA | c.360A>T (p.Thr120=) c.102A>T (p.Thr34=) n.751A>T | |
| 22 | g.50627271T>C | CA515391504 | ARSA | c.360A>G (p.Thr120=) c.102A>G (p.Thr34=) n.751A>G | gnomAD v4 |
| 22 | g.50627271T>G | CA515391505 | ARSA | c.360A>C (p.Thr120=) c.102A>C (p.Thr34=) n.751A>C | |
| 22 | g.50627272G>A | CA412180860 | ARSA | c.359C>T (p.Thr120Ile) c.101C>T (p.Thr34Ile) n.750C>T | gnomAD v4 |
| 22 | g.50627272G>C | CA412180868 | ARSA | c.359C>G (p.Thr120Arg) c.101C>G (p.Thr34Arg) n.750C>G | |
| 22 | g.50627272G>T | CA412180870 | ARSA | c.359C>A (p.Thr120Lys) c.101C>A (p.Thr34Lys) n.750C>A | |
| 22 | g.50627273T>A | CA412180878 | ARSA | c.358A>T (p.Thr120Ser) c.100A>T (p.Thr34Ser) n.749A>T | |
| 22 | g.50627273T>C | CA412180880 | ARSA | c.358A>G (p.Thr120Ala) c.100A>G (p.Thr34Ala) n.749A>G | |
| 22 | g.50627273T>G | CA412180875 | ARSA | c.358A>C (p.Thr120Pro) c.100A>C (p.Thr34Pro) n.749A>C | gnomAD v4 |
| 22 | g.50627274G>A | CA515391507 | ARSA | c.357C>T (p.Leu119=) c.99C>T (p.Leu33=) n.748C>T | |
| 22 | g.50627274G>C | CA10325045 | ARSA | c.357C>G (p.Leu119=) c.99C>G (p.Leu33=) n.748C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627274G= | CA2410959521 | ARSA | c.357C= (p.Leu119=) c.99C= (p.Leu33=) n.748C= | |
| 22 | g.50627274G>T | CA515391508 | ARSA | c.357C>A (p.Leu119=) c.99C>A (p.Leu33=) n.748C>A | |
| 22 | g.50627275A>C | CA412180889 | ARSA | c.356T>G (p.Leu119Arg) c.98T>G (p.Leu33Arg) n.747T>G | |
| 22 | g.50627275A>G | CA412180893 | ARSA | c.356T>C (p.Leu119Pro) c.98T>C (p.Leu33Pro) n.747T>C | |
| 22 | g.50627275A>T | CA412180896 | ARSA | c.356T>A (p.Leu119His) c.98T>A (p.Leu33His) n.747T>A | |
| 22 | g.50627275_50627284delinsAGGTAGCCTC | CA2410959522 | ARSA | c.347_356delinsGAGGCTACCT (p.Arg116=) c.89_98delinsGAGGCTACCT (p.Arg30=) n.738_747delinsGAGGCTACCT | |
| 22 | g.50627276G>A | CA412180900 | ARSA | c.355C>T (p.Leu119Phe) c.97C>T (p.Leu33Phe) n.746C>T | |
| 22 | g.50627276G>C | CA412180909 | ARSA | c.355C>G (p.Leu119Val) c.97C>G (p.Leu33Val) n.746C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627276G= | CA2410959523 | ARSA | c.355C= (p.Leu119=) c.97C= (p.Leu33=) n.746C= | |
| 22 | g.50627276G>T | CA412180911 | ARSA | c.355C>A (p.Leu119Ile) c.97C>A (p.Leu33Ile) n.746C>A | |
| 22 | g.50627277del | CA2657593857 | ARSA | c.355del (p.Leu119SerfsTer29) c.97del (p.Leu33SerfsTer29) n.746del | gnomAD v4 |
| 22 | g.50627278_50627286del | CA754070388 | ARSA | c.347_355del (p.Arg116_Tyr118del) c.89_97del (p.Arg30_Tyr32del) n.738_746del | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627277G>A | CA515391510 | ARSA | c.354C>T (p.Tyr118=) c.96C>T (p.Tyr32=) n.745C>T | gnomAD v4 |
| 22 | g.50627277G>C | CA412180913 | ARSA | c.354C>G (p.Tyr118Ter) c.96C>G (p.Tyr32Ter) n.745C>G | |
| 22 | g.50627277G>T | CA412180914 | ARSA | c.354C>A (p.Tyr118Ter) c.96C>A (p.Tyr32Ter) n.745C>A | |
| 22 | g.50627278T>A | CA412180916 | ARSA | c.353A>T (p.Tyr118Phe) c.95A>T (p.Tyr32Phe) n.744A>T | |
| 22 | g.50627278T>C | CA412180922 | ARSA | c.353A>G (p.Tyr118Cys) c.95A>G (p.Tyr32Cys) n.744A>G | |
| 22 | g.50627278T>G | CA412180926 | ARSA | c.353A>C (p.Tyr118Ser) c.95A>C (p.Tyr32Ser) n.744A>C | |
| 22 | g.50627279A= | CA2410959524 | ARSA | c.352T= (p.Tyr118=) c.94T= (p.Tyr32=) n.743T= | |
| 22 | g.50627279A>C | CA412180930 | ARSA | c.352T>G (p.Tyr118Asp) c.94T>G (p.Tyr32Asp) n.743T>G | |
| 22 | g.50627279A>G | CA412180933 | ARSA | c.352T>C (p.Tyr118His) c.94T>C (p.Tyr32His) n.743T>C | dbSNP |
| 22 | g.50627279A>T | CA412180938 | ARSA | c.352T>A (p.Tyr118Asn) c.94T>A (p.Tyr32Asn) n.743T>A | |
| 22 | g.50627280G>A | CA515391512 | ARSA | c.351C>T (p.Gly117=) c.93C>T (p.Gly31=) n.742C>T | |
| 22 | g.50627280G>C | CA515391513 | ARSA | c.351C>G (p.Gly117=) c.93C>G (p.Gly31=) n.742C>G | |
| 22 | g.50627280G>T | CA515391514 | ARSA | c.351C>A (p.Gly117=) c.93C>A (p.Gly31=) n.742C>A | gnomAD v4 |
| 22 | g.50627281C>A | CA412180944 | ARSA | c.350G>T (p.Gly117Val) c.92G>T (p.Gly31Val) n.741G>T | gnomAD v4 |
| 22 | g.50627281C= | CA2410959525 | ARSA | c.350G= (p.Gly117=) c.92G= (p.Gly31=) n.741G= | |
| 22 | g.50627281C>G | CA412180945 | ARSA | c.350G>C (p.Gly117Ala) c.92G>C (p.Gly31Ala) n.741G>C |