Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.81144239G>C | CA162649 | TSHR | c.2181G>C (p.Glu727Asp) c.1084G>C c.1902G>C (p.Glu634Asp) n.2086+20954C>G n.853+20954C>G n.854+20954C>G n.865+20954C>G n.861+20954C>G n.855+20954C>G n.2753+20954C>G n.929+20954C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.81144239G>T | CA390729655 | TSHR | c.2181G>T (p.Glu727Asp) c.1084G>T c.1902G>T (p.Glu634Asp) n.2086+20954C>A n.853+20954C>A n.854+20954C>A n.865+20954C>A n.861+20954C>A n.855+20954C>A n.2753+20954C>A n.929+20954C>A | dbSNP |