Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2169721C>T | CA342583 | TH | c.241G>A (p.Val81Met) c.91-26G>A (n.91-26G>A) c.103-26G>A (n.103-26G>A) c.322G>A (p.Val108Met) c.334G>A (p.Val112Met) c.253G>A (p.Val85Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169721C>A | CA379112251 | TH | c.241G>T (p.Val81Leu) c.91-26G>T (n.91-26G>T) c.103-26G>T (n.103-26G>T) c.322G>T (p.Val108Leu) c.334G>T (p.Val112Leu) c.253G>T (p.Val85Leu) | dbSNP |