| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219418856C>T | CA16610670 | DES | c.394C>T (p.Gln132Ter) | ClinVar dbSNP |
| 2 | g.219418856C= | CA1329210040 | DES | c.394C= (p.Gln132=) | dbSNP |
| 2 | g.219418856C>A | CA350685823 | DES | c.394C>A (p.Gln132Lys) | dbSNP gnomAD v4 |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219418856C>T | CA16610670 | DES | c.394C>T (p.Gln132Ter) | ClinVar dbSNP |
| 2 | g.219418856C= | CA1329210040 | DES | c.394C= (p.Gln132=) | dbSNP |
| 2 | g.219418856C>A | CA350685823 | DES | c.394C>A (p.Gln132Lys) | dbSNP gnomAD v4 |