| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.100642568A>G | CA12544388 | TFR2 | c.-258+123T>C (n.-258+123T>C) n.89+123T>C c.-70+123T>C (n.-70+123T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.100642568A= | CA2580595059 | TFR2 | c.-258+123T= (n.-258+123T=) n.89+123T= c.-70+123T= (n.-70+123T=) | dbSNP |