| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27444503A>G | CA149722 | IFT172,KRTCAP3 | c.5179T>C (p.Cys1727Arg) c.*5625T>C (n.*5625T>C) c.*3168T>C (n.*3168T>C) c.5113T>C (p.Cys1705Arg) c.*4405T>C (n.*4405T>C) c.194+442A>G (n.194+442A>G) n.5460T>C c.1597T>C c.*5+442A>G (n.*5+442A>G) c.5116T>C (p.Cys1706Arg) c.5080T>C (p.Cys1694Arg) c.4498T>C (p.Cys1500Arg) c.3619T>C (p.Cys1207Arg) c.3244T>C (p.Cys1082Arg) c.5050T>C (p.Cys1684Arg) c.3316T>C (p.Cys1106Arg) c.3112T>C (p.Cys1038Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27444503A= | CA1240274900 | IFT172,KRTCAP3 | c.5179T= (p.Cys1727=) c.*5625T= (n.*5625T=) c.*3168T= (n.*3168T=) c.5113T= (p.Cys1705=) c.*4405T= (n.*4405T=) c.194+442A= (n.194+442A=) n.5460T= c.1597T= c.*5+442A= (n.*5+442A=) c.5116T= (p.Cys1706=) c.5080T= (p.Cys1694=) c.4498T= (p.Cys1500=) c.3619T= (p.Cys1207=) c.3244T= (p.Cys1082=) c.5050T= (p.Cys1684=) c.3316T= (p.Cys1106=) c.3112T= (p.Cys1038=) | dbSNP |