| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.30876800C>A | CA339557942 | SDC3 | c.622G>T (p.Val208Leu) c.448G>T (p.Val150Leu) n.556G>T c.625G>T (p.Val209Leu) c.589G>T (p.Val197Leu) c.586G>T (p.Val196Leu) c.547G>T (p.Val183Leu) c.496G>T (p.Val166Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.30876800C>G | CA20072478 | SDC3 | c.622G>C (p.Val208Leu) c.448G>C (p.Val150Leu) n.556G>C c.625G>C (p.Val209Leu) c.589G>C (p.Val197Leu) c.586G>C (p.Val196Leu) c.547G>C (p.Val183Leu) c.496G>C (p.Val166Leu) | dbSNP gnomAD v4 |
| 1 | g.30876800C>T | CA122690 | SDC3 | c.622G>A (p.Val208Ile) c.448G>A (p.Val150Ile) n.556G>A c.625G>A (p.Val209Ile) c.589G>A (p.Val197Ile) c.586G>A (p.Val196Ile) c.547G>A (p.Val183Ile) c.496G>A (p.Val166Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |