| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.155806545T>A | CA340829 | SHH | c.313A>T (p.Lys105Ter) c.52A>T (p.Lys18Ter) n.222A>T c.-27A>T (n.-27A>T) n.313A>T | ClinVar dbSNP |
| 7 | g.155806545T>G | CA370149431 | SHH | c.313A>C (p.Lys105Gln) c.52A>C (p.Lys18Gln) n.222A>C c.-27A>C (n.-27A>C) n.313A>C | ClinVar dbSNP |
| 7 | g.155806545T= | CA1754773673 | SHH | c.313A= (p.Lys105=) c.52A= (p.Lys18=) n.222A= c.-27A= (n.-27A=) n.313A= | dbSNP |