| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.81143883C>T | CA7294533 | TSHR | c.1825C>T (p.Arg609Ter) c.728C>T c.1546C>T (p.Arg516Ter) n.2086+21310G>A n.853+21310G>A n.854+21310G>A n.865+21310G>A n.861+21310G>A n.855+21310G>A n.2753+21310G>A n.929+21310G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.81143883C= | CA2150076015 | TSHR | c.1825C= (p.Arg609=) c.728C= c.1546C= (p.Arg516=) n.2086+21310G= n.853+21310G= n.854+21310G= n.865+21310G= n.861+21310G= n.855+21310G= n.2753+21310G= n.929+21310G= | dbSNP |
| 14 | g.81143883C>A | CA487512944 | TSHR | c.1825C>A (p.Arg609=) c.728C>A c.1546C>A (p.Arg516=) n.2086+21310G>T n.853+21310G>T n.854+21310G>T n.865+21310G>T n.861+21310G>T n.855+21310G>T n.2753+21310G>T n.929+21310G>T | dbSNP |