Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.26503508T>C | CA14949392 | TFIP11 | c.648+158A>G (n.648+158A>G) c.158+158A>G n.538+158A>G n.324+158A>G c.555+158A>G (n.555+158A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.26503508T>A | CA752039880 | TFIP11 | c.648+158A>T (n.648+158A>T) c.158+158A>T n.538+158A>T n.324+158A>T c.555+158A>T (n.555+158A>T) | dbSNP |