| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.30921612T>C | CA3705995 | VARS2 | c.1656T>C (p.Val552=) c.1650T>C (p.Val550=) n.1576T>C n.514T>C n.4269T>C c.1746T>C (p.Val582=) c.1236T>C (p.Val412=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.30921612T>A | CA449584322 | VARS2 | c.1656T>A (p.Val552=) c.1650T>A (p.Val550=) n.1576T>A n.514T>A n.4269T>A c.1746T>A (p.Val582=) c.1236T>A (p.Val412=) | dbSNP gnomAD v4 |
| 6 | g.30921612T>G | CA449584324 | VARS2 | c.1656T>G (p.Val552=) c.1650T>G (p.Val550=) n.1576T>G n.514T>G n.4269T>G c.1746T>G (p.Val582=) c.1236T>G (p.Val412=) | dbSNP |
| 6 | g.30921612T= | CA1618927804 | VARS2 | c.1656T= (p.Val552=) c.1650T= (p.Val550=) n.1576T= n.514T= n.4269T= c.1746T= (p.Val582=) c.1236T= (p.Val412=) | dbSNP |