| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.24127610C>G | CA122452 | THRB | c.1033G>C (p.Gly345Arg) c.*1662G>C (n.*1662G>C) c.1078G>C (p.Gly360Arg) c.940G>C (p.Gly314Arg) c.973+60G>C (n.973+60G>C) | ClinVar dbSNP |
| 3 | g.24127610C>A | CA351888714 | THRB | c.1033G>T (p.Gly345Cys) c.*1662G>T (n.*1662G>T) c.1078G>T (p.Gly360Cys) c.940G>T (p.Gly314Cys) c.973+60G>T (n.973+60G>T) | ClinVar dbSNP |
| 3 | g.24127610C>T | CA122485 | THRB | c.1033G>A (p.Gly345Ser) c.*1662G>A (n.*1662G>A) c.1078G>A (p.Gly360Ser) c.940G>A (p.Gly314Ser) c.973+60G>A (n.973+60G>A) | ClinVar dbSNP |