| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.78969143_78969156dup | CA2582341584 | ARSB | c.352_365dup (p.Pro123SerfsTer16) n.423_436dup | ClinVar gnomAD v4 |
| 5 | g.78969156A= | CA1557703809 | ARSB | c.349T= (p.Cys117=) n.420T= | |
| 5 | g.78969156A>C | CA360194409 | ARSB | c.349T>G (p.Cys117Gly) n.420T>G | |
| 5 | g.78969156A>G | CA114601 | ARSB | c.349T>C (p.Cys117Arg) n.420T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969156A>T | CA360194411 | ARSB | c.349T>A (p.Cys117Ser) n.420T>A | |
| 5 | g.78969157G>A | CA3318285 | ARSB | c.348C>T (p.Pro116=) n.419C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969157G>C | CA445103623 | ARSB | c.348C>G (p.Pro116=) n.419C>G | |
| 5 | g.78969157G= | CA1557703810 | ARSB | c.348C= (p.Pro116=) n.419C= | |
| 5 | g.78969157G>T | CA445103625 | ARSB | c.348C>A (p.Pro116=) n.419C>A | |
| 5 | g.78969159del | CA2674368718 | ARSB | c.348del (p.Cys117ValfsTer17) n.419del | gnomAD v4 |
| 5 | g.78969158G>A | CA360194416 | ARSB | c.347C>T (p.Pro116Leu) n.418C>T | gnomAD v4 |
| 5 | g.78969158G>C | CA360194414 | ARSB | c.347C>G (p.Pro116Arg) n.418C>G | |
| 5 | g.78969158G= | CA1557703811 | ARSB | c.347C= (p.Pro116=) n.418C= | |
| 5 | g.78969158G>T | CA3318286 | ARSB | c.347C>A (p.Pro116His) n.418C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969159G>A | CA360194418 | ARSB | c.346C>T (p.Pro116Ser) n.417C>T | gnomAD v4 |
| 5 | g.78969159G>C | CA360194419 | ARSB | c.346C>G (p.Pro116Ala) n.417C>G | |
| 5 | g.78969159G>T | CA360194421 | ARSB | c.346C>A (p.Pro116Thr) n.417C>A | |
| 5 | g.78969160C>A | CA360194422 | ARSB | c.345G>T (p.Trp115Cys) n.416G>T | |
| 5 | g.78969160C>G | CA360194424 | ARSB | c.345G>C (p.Trp115Cys) n.416G>C | |
| 5 | g.78969160C>T | CA360194425 | ARSB | c.345G>A (p.Trp115Ter) n.416G>A | ClinVar dbSNP |
| 5 | g.78969161C>A | CA360194426 | ARSB | c.344G>T (p.Trp115Leu) n.415G>T | |
| 5 | g.78969161C>G | CA360194427 | ARSB | c.344G>C (p.Trp115Ser) n.415G>C | |
| 5 | g.78969161C>T | CA360194428 | ARSB | c.344G>A (p.Trp115Ter) n.415G>A | |
| 5 | g.78969162A>C | CA360194430 | ARSB | c.343T>G (p.Trp115Gly) n.414T>G | |
| 5 | g.78969162A>G | CA360194432 | ARSB | c.343T>C (p.Trp115Arg) n.414T>C | |
| 5 | g.78969162A>T | CA360194433 | ARSB | c.343T>A (p.Trp115Arg) n.414T>A | |
| 5 | g.78969163G>A | CA445103635 | ARSB | c.342C>T (p.Ile114=) n.413C>T | |
| 5 | g.78969163G>C | CA360194435 | ARSB | c.342C>G (p.Ile114Met) n.413C>G | |
| 5 | g.78969163G>T | CA445103630 | ARSB | c.342C>A (p.Ile114=) n.413C>A | |
| 5 | g.78969164A>C | CA360194436 | ARSB | c.341T>G (p.Ile114Ser) n.412T>G | |
| 5 | g.78969164A>G | CA360194440 | ARSB | c.341T>C (p.Ile114Thr) n.412T>C | |
| 5 | g.78969164A>T | CA360194438 | ARSB | c.341T>A (p.Ile114Asn) n.412T>A | |
| 5 | g.78969165T>A | CA360194442 | ARSB | c.340A>T (p.Ile114Phe) n.411A>T | |
| 5 | g.78969165T>C | CA360194443 | ARSB | c.340A>G (p.Ile114Val) n.411A>G | |
| 5 | g.78969165T>G | CA360194445 | ARSB | c.340A>C (p.Ile114Leu) n.411A>C | |
| 5 | g.78969166T>A | CA3318287 | ARSB | c.339A>T (p.Ile113=) n.410A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969166T>C | CA360194447 | ARSB | c.339A>G (p.Ile113Met) n.410A>G | |
| 5 | g.78969166T>G | CA445103638 | ARSB | c.339A>C (p.Ile113=) n.410A>C | ClinVar |
| 5 | g.78969166T= | CA1557703812 | ARSB | c.339A= (p.Ile113=) n.410A= | |
| 5 | g.78969167A>C | CA360194449 | ARSB | c.338T>G (p.Ile113Arg) n.409T>G | |
| 5 | g.78969167A>G | CA360194451 | ARSB | c.338T>C (p.Ile113Thr) n.409T>C | |
| 5 | g.78969167A>T | CA360194452 | ARSB | c.338T>A (p.Ile113Lys) n.409T>A | |
| 5 | g.78969168T>A | CA360194454 | ARSB | c.337A>T (p.Ile113Leu) n.408A>T | |
| 5 | g.78969168T>C | CA360194455 | ARSB | c.337A>G (p.Ile113Val) n.408A>G | |
| 5 | g.78969168T>G | CA360194457 | ARSB | c.337A>C (p.Ile113Leu) n.408A>C | |
| 5 | g.78969169T>A | CA360194459 | ARSB | c.336A>T (p.Gln112His) n.407A>T | |
| 5 | g.78969169T>C | CA445103641 | ARSB | c.336A>G (p.Gln112=) n.407A>G | ClinVar |
| 5 | g.78969169T>G | CA360194461 | ARSB | c.336A>C (p.Gln112His) n.407A>C | |
| 5 | g.78969170T>A | CA360194463 | ARSB | c.335A>T (p.Gln112Leu) n.406A>T | |
| 5 | g.78969170T>C | CA360194464 | ARSB | c.335A>G (p.Gln112Arg) n.406A>G |