Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.100638347C>G | CA2580595053 | TFR2 | c.473+2339G>C (n.473+2339G>C) n.478+2339G>C | dbSNP |
7 | g.100638347C>A | CA12544385 | TFR2 | c.473+2339G>T (n.473+2339G>T) n.478+2339G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |