| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73644483del | CA16041089 | SLC17A5 | c.215del (p.Thr72LysfsTer3) c.164del (p.Thr55LysfsTer3) c.17del (p.Thr6LysfsTer3) c.61-2559del (n.61-2559del) c.236del (p.Thr79LysfsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73644483G= | CA1638225554 | SLC17A5 | c.215C= (p.Thr72=) c.164C= (p.Thr55=) c.17C= (p.Thr6=) c.61-2559C= (n.61-2559C=) c.236C= (p.Thr79=) | dbSNP dbSNP |