| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.2934859C>T | CA341097 | ARSL | c.1743G>A (p.Trp581Ter) c.1818G>A (p.Trp606Ter) c.1620G>A (p.Trp540Ter) c.1182G>A (p.Trp394Ter) n.1523G>A c.1731G>A (p.Trp577Ter) c.1296G>A (p.Trp432Ter) c.1581G>A (p.Trp527Ter) c.1740G>A (p.Trp580Ter) c.1608G>A (p.Trp536Ter) c.1770G>A (p.Trp590Ter) c.1257G>A (p.Trp419Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.2934859C= | CA2412580495 | ARSL | c.1743G= (p.Trp581=) c.1818G= (p.Trp606=) c.1620G= (p.Trp540=) c.1182G= (p.Trp394=) n.1523G= c.1731G= (p.Trp577=) c.1296G= (p.Trp432=) c.1581G= (p.Trp527=) c.1740G= (p.Trp580=) c.1608G= (p.Trp536=) c.1770G= (p.Trp590=) c.1257G= (p.Trp419=) | dbSNP |