| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.23524204C>T | CA389022829 | THTPA,ZFHX2 | c.5738G>A (p.Arg1913Lys) n.465+9788C>T n.245+9788C>T c.2828G>A (p.Arg943Lys) c.2588G>A (p.Arg863Lys) c.5648G>A (p.Arg1883Lys) c.5597G>A (p.Arg1866Lys) c.5660G>A (p.Arg1887Lys) c.5750G>A (p.Arg1917Lys) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23524204C= | CA2123490998 | THTPA,ZFHX2 | c.5738G= (p.Arg1913=) n.465+9788C= n.245+9788C= c.2828G= (p.Arg943=) c.2588G= (p.Arg863=) c.5648G= (p.Arg1883=) c.5597G= (p.Arg1866=) c.5660G= (p.Arg1887=) c.5750G= (p.Arg1917=) | dbSNP |