| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77688844G>A | CA413722490 | ATRX | c.568C>T (p.Pro190Ser) c.454C>T (p.Pro152Ser) c.*196C>T (n.*196C>T) c.403C>T (p.Pro135Ser) c.451C>T (p.Pro151Ser) c.289C>T (p.Pro97Ser) c.383C>T c.565C>T (p.Pro189Ser) n.836C>T c.448C>T (p.Pro150Ser) c.400C>T (p.Pro134Ser) c.337C>T (p.Pro113Ser) c.334C>T (p.Pro112Ser) c.286C>T (p.Pro96Ser) n.793C>T | dbSNP |
| X | g.77688844G>T | CA413722489 | ATRX | c.568C>A (p.Pro190Thr) c.454C>A (p.Pro152Thr) c.*196C>A (n.*196C>A) c.403C>A (p.Pro135Thr) c.451C>A (p.Pro151Thr) c.289C>A (p.Pro97Thr) c.383C>A c.565C>A (p.Pro189Thr) n.836C>A c.448C>A (p.Pro150Thr) c.400C>A (p.Pro134Thr) c.337C>A (p.Pro113Thr) c.334C>A (p.Pro112Thr) c.286C>A (p.Pro96Thr) n.793C>A | dbSNP gnomAD v4 |
| X | g.77688844G>C | CA256044 | ATRX | c.568C>G (p.Pro190Ala) c.454C>G (p.Pro152Ala) c.*196C>G (n.*196C>G) c.403C>G (p.Pro135Ala) c.451C>G (p.Pro151Ala) c.289C>G (p.Pro97Ala) c.383C>G c.565C>G (p.Pro189Ala) n.836C>G c.448C>G (p.Pro150Ala) c.400C>G (p.Pro134Ala) c.337C>G (p.Pro113Ala) c.334C>G (p.Pro112Ala) c.286C>G (p.Pro96Ala) n.793C>G | ClinVar dbSNP |