| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21842308T>C | CA670594 | HSPG2 | c.8983A>G (p.Ser2995Gly) c.8986A>G (p.Ser2996Gly) c.9529A>G (p.Ser3177Gly) c.9481A>G (p.Ser3161Gly) c.9460A>G (p.Ser3154Gly) c.9532A>G (p.Ser3178Gly) c.9253A>G (p.Ser3085Gly) c.9037A>G (p.Ser3013Gly) c.9178A>G (p.Ser3060Gly) c.9127A>G (p.Ser3043Gly) c.9124A>G (p.Ser3042Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21842308T>A | CA19108366 | HSPG2 | c.8983A>T (p.Ser2995Cys) c.8986A>T (p.Ser2996Cys) c.9529A>T (p.Ser3177Cys) c.9481A>T (p.Ser3161Cys) c.9460A>T (p.Ser3154Cys) c.9532A>T (p.Ser3178Cys) c.9253A>T (p.Ser3085Cys) c.9037A>T (p.Ser3013Cys) c.9178A>T (p.Ser3060Cys) c.9127A>T (p.Ser3043Cys) c.9124A>T (p.Ser3042Cys) | dbSNP |
| 1 | g.21842308T>G | CA19108370 | HSPG2 | c.8983A>C (p.Ser2995Arg) c.8986A>C (p.Ser2996Arg) c.9529A>C (p.Ser3177Arg) c.9481A>C (p.Ser3161Arg) c.9460A>C (p.Ser3154Arg) c.9532A>C (p.Ser3178Arg) c.9253A>C (p.Ser3085Arg) c.9037A>C (p.Ser3013Arg) c.9178A>C (p.Ser3060Arg) c.9127A>C (p.Ser3043Arg) c.9124A>C (p.Ser3042Arg) | dbSNP |