| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.24122913G>A | CA351886499 | THRB | c.1357C>T (p.Pro453Ser) c.*1986C>T (n.*1986C>T) c.1402C>T (p.Pro468Ser) c.1264C>T (p.Pro422Ser) c.1186C>T (p.Pro396Ser) | ClinVar dbSNP gnomAD v2 |
| 3 | g.24122913G>T | CA122481 | THRB | c.1357C>A (p.Pro453Thr) c.*1986C>A (n.*1986C>A) c.1402C>A (p.Pro468Thr) c.1264C>A (p.Pro422Thr) c.1186C>A (p.Pro396Thr) | ClinVar dbSNP ExAC |
| 3 | g.24122913G>C | CA2287079 | THRB | c.1357C>G (p.Pro453Ala) c.*1986C>G (n.*1986C>G) c.1402C>G (p.Pro468Ala) c.1264C>G (p.Pro422Ala) c.1186C>G (p.Pro396Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |