| 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 |
| 11 | g.2169721C>G | CA379112252 | TH | c.241G>C (p.Val81Leu) c.91-26G>C (n.91-26G>C) c.103-26G>C (n.103-26G>C) c.322G>C (p.Val108Leu) c.334G>C (p.Val112Leu) c.253G>C (p.Val85Leu) | dbSNP |
| 11 | g.2169721C= | CA1630848554 | TH | c.241G= (p.Val81=) c.91-26G= (n.91-26G=) c.103-26G= (n.103-26G=) c.322G= (p.Val108=) c.334G= (p.Val112=) c.253G= (p.Val85=) | dbSNP |