| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.102690688C>A | CA102706574 | MANBA | c.757G>T (p.Val253Leu) c.263G>T c.439G>T (p.Val147Leu) c.586G>T (p.Val196Leu) n.882G>T c.-150G>T (n.-150G>T) c.394G>T (p.Val132Leu) c.109G>T (p.Val37Leu) c.682G>T (p.Val228Leu) | dbSNP |
| 4 | g.102690688C>T | CA3027113 | MANBA | c.757G>A (p.Val253Ile) c.263G>A c.439G>A (p.Val147Ile) c.586G>A (p.Val196Ile) n.882G>A c.-150G>A (n.-150G>A) c.394G>A (p.Val132Ile) c.109G>A (p.Val37Ile) c.682G>A (p.Val228Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.102690688C>G | CA102706588 | MANBA | c.757G>C (p.Val253Leu) c.263G>C c.439G>C (p.Val147Leu) c.586G>C (p.Val196Leu) n.882G>C c.-150G>C (n.-150G>C) c.394G>C (p.Val132Leu) c.109G>C (p.Val37Leu) c.682G>C (p.Val228Leu) | dbSNP |