Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50627256_50627262delinsCTTGCCG | CA2410959512 | ARSA | c.369_375delinsCGGCAAG (p.Ala123=) c.111_117delinsCGGCAAG (p.Ala37=) n.760_766delinsCGGCAAG | |
22 | g.50627257_50627262delinsCCCAAGGTT | CA233479 | ARSA | c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) c.111_116delinsAACCTTGGG (p.Gly38_Lys39delinsThrLeuGly) n.760_765delinsAACCTTGGG | ClinVar dbSNP |
22 | g.50627261C>A | CA325531581 | ARSA | c.370G>T (p.Gly124Cys) c.112G>T (p.Gly38Cys) n.761G>T | ClinVar dbSNP gnomAD v4 |
22 | g.50627261C= | CA2410959515 | ARSA | c.370G= (p.Gly124=) c.112G= (p.Gly38=) n.761G= | |
22 | g.50627261C>G | CA412180784 | ARSA | c.370G>C (p.Gly124Arg) c.112G>C (p.Gly38Arg) n.761G>C | dbSNP gnomAD v4 |
22 | g.50627261C>T | CA220987 | ARSA | c.370G>A (p.Gly124Ser) c.112G>A (p.Gly38Ser) n.761G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627261_50627262delinsCG | CA2410959516 | ARSA | c.369_370delinsCG (p.Ala123=) c.111_112delinsCG (p.Ala37=) n.760_761delinsCG | |
22 | g.50627262G>A | CA10653701 | ARSA | c.369C>T (p.Ala123=) c.111C>T (p.Ala37=) n.760C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627262G>C | CA515391492 | ARSA | c.369C>G (p.Ala123=) c.111C>G (p.Ala37=) n.760C>G | |
22 | g.50627262G= | CA2410959517 | ARSA | c.369C= (p.Ala123=) c.111C= (p.Ala37=) n.760C= | |
22 | g.50627262G>T | CA515391494 | ARSA | c.369C>A (p.Ala123=) c.111C>A (p.Ala37=) n.760C>A | |
22 | g.50627263del | CA1026681316 | ARSA | c.369del (p.Gly124AlafsTer24) c.111del (p.Gly38AlafsTer24) n.760del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627263G>A | CA412180790 | ARSA | c.368C>T (p.Ala123Val) c.110C>T (p.Ala37Val) n.759C>T | gnomAD v4 |
22 | g.50627263G>C | CA412180800 | ARSA | c.368C>G (p.Ala123Gly) c.110C>G (p.Ala37Gly) n.759C>G | |
22 | g.50627263G>T | CA412180802 | ARSA | c.368C>A (p.Ala123Asp) c.110C>A (p.Ala37Asp) n.759C>A | |
22 | g.50627264C>A | CA412180805 | ARSA | c.367G>T (p.Ala123Ser) c.109G>T (p.Ala37Ser) n.758G>T | gnomAD v4 |
22 | g.50627264C= | CA2410959518 | ARSA | c.367G= (p.Ala123=) c.109G= (p.Ala37=) n.758G= | |
22 | g.50627264C>G | CA412180806 | ARSA | c.367G>C (p.Ala123Pro) c.109G>C (p.Ala37Pro) n.758G>C | gnomAD v4 |
22 | g.50627264C>T | CA412180809 | ARSA | c.367G>A (p.Ala123Thr) c.109G>A (p.Ala37Thr) n.758G>A | dbSNP |
22 | g.50627265C>A | CA412180810 | ARSA | c.366G>T (p.Met122Ile) c.108G>T (p.Met36Ile) n.757G>T | |
22 | g.50627265C>G | CA412180811 | ARSA | c.366G>C (p.Met122Ile) c.108G>C (p.Met36Ile) n.757G>C | |
22 | g.50627265C>T | CA412180812 | ARSA | c.366G>A (p.Met122Ile) c.108G>A (p.Met36Ile) n.757G>A | |
22 | g.50627266A>C | CA412180816 | ARSA | c.365T>G (p.Met122Arg) c.107T>G (p.Met36Arg) n.756T>G | |
22 | g.50627266A>G | CA412180819 | ARSA | c.365T>C (p.Met122Thr) c.107T>C (p.Met36Thr) n.756T>C | ClinVar dbSNP |
22 | g.50627266A>T | CA412180815 | ARSA | c.365T>A (p.Met122Lys) c.107T>A (p.Met36Lys) n.756T>A | |
22 | g.50627267T>A | CA412180821 | ARSA | c.364A>T (p.Met122Leu) c.106A>T (p.Met36Leu) n.755A>T | |
22 | g.50627267T>C | CA412180824 | ARSA | c.364A>G (p.Met122Val) c.106A>G (p.Met36Val) n.755A>G | |
22 | g.50627267T>G | CA412180833 | ARSA | c.364A>C (p.Met122Leu) c.106A>C (p.Met36Leu) n.755A>C | |
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 |