| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.2934870G>A | CA341096 | ARSL | c.1732C>T (p.Pro578Ser) c.1807C>T (p.Pro603Ser) c.1609C>T (p.Pro537Ser) c.1171C>T (p.Pro391Ser) n.1512C>T c.1720C>T (p.Pro574Ser) c.1285C>T (p.Pro429Ser) c.1570C>T (p.Pro524Ser) c.1729C>T (p.Pro577Ser) c.1597C>T (p.Pro533Ser) c.1759C>T (p.Pro587Ser) c.1246C>T (p.Pro416Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.2934870G= | CA2412580500 | ARSL | c.1732C= (p.Pro578=) c.1807C= (p.Pro603=) c.1609C= (p.Pro537=) c.1171C= (p.Pro391=) n.1512C= c.1720C= (p.Pro574=) c.1285C= (p.Pro429=) c.1570C= (p.Pro524=) c.1729C= (p.Pro577=) c.1597C= (p.Pro533=) c.1759C= (p.Pro587=) c.1246C= (p.Pro416=) | dbSNP |