Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.64774231C>T | CA13978978 | SPTB | c.4973+166G>A (n.4973+166G>A) c.968+166G>A (n.968+166G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.64774231C>G | CA707748186 | SPTB | c.4973+166G>C (n.4973+166G>C) c.968+166G>C (n.968+166G>C) | dbSNP |