| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.1496155A>G | CA41427031 | TPO | c.2173A>G (p.Thr725Ala) c.1654A>G (p.Thr552Ala) c.2002A>G (p.Thr668Ala) c.1960A>G (p.Thr654Ala) c.597A>G n.424+2116A>G c.595A>G (p.Thr199Ala) n.677+2116A>G n.2174A>G c.2209A>G (p.Thr737Ala) c.2038A>G (p.Thr680Ala) c.1690A>G (p.Thr564Ala) | dbSNP gnomAD v4 |
| 2 | g.1496155A>T | CA345698204 | TPO | c.2173A>T (p.Thr725Ser) c.1654A>T (p.Thr552Ser) c.2002A>T (p.Thr668Ser) c.1960A>T (p.Thr654Ser) c.597A>T n.424+2116A>T c.595A>T (p.Thr199Ser) n.677+2116A>T n.2174A>T c.2209A>T (p.Thr737Ser) c.2038A>T (p.Thr680Ser) c.1690A>T (p.Thr564Ser) | dbSNP gnomAD v4 |
| 2 | g.1496155A>C | CA1511969 | TPO | c.2173A>C (p.Thr725Pro) c.1654A>C (p.Thr552Pro) c.2002A>C (p.Thr668Pro) c.1960A>C (p.Thr654Pro) c.597A>C n.424+2116A>C c.595A>C (p.Thr199Pro) n.677+2116A>C n.2174A>C c.2209A>C (p.Thr737Pro) c.2038A>C (p.Thr680Pro) c.1690A>C (p.Thr564Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |