| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21842352A>T | CA670606 | HSPG2 | c.8939T>A (p.Leu2980His) c.8942T>A (p.Leu2981His) c.9485T>A (p.Leu3162His) c.9437T>A (p.Leu3146His) c.9416T>A (p.Leu3139His) c.9488T>A (p.Leu3163His) c.9209T>A (p.Leu3070His) c.8993T>A (p.Leu2998His) c.9134T>A (p.Leu3045His) c.9083T>A (p.Leu3028His) c.9080T>A (p.Leu3027His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21842352A= | CA1139921407 | HSPG2 | c.8939T= (p.Leu2980=) c.8942T= (p.Leu2981=) c.9485T= (p.Leu3162=) c.9437T= (p.Leu3146=) c.9416T= (p.Leu3139=) c.9488T= (p.Leu3163=) c.9209T= (p.Leu3070=) c.8993T= (p.Leu2998=) c.9134T= (p.Leu3045=) c.9083T= (p.Leu3028=) c.9080T= (p.Leu3027=) | dbSNP |