| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21841112C>T | CA670429 | HSPG2 | c.9502G>A (p.Ala3168Thr) c.9505G>A (p.Ala3169Thr) c.10048G>A (p.Ala3350Thr) c.10000G>A (p.Ala3334Thr) c.9979G>A (p.Ala3327Thr) c.10051G>A (p.Ala3351Thr) c.9772G>A (p.Ala3258Thr) c.9556G>A (p.Ala3186Thr) c.9697G>A (p.Ala3233Thr) c.9646G>A (p.Ala3216Thr) c.9643G>A (p.Ala3215Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21841112C= | CA1139921402 | HSPG2 | c.9502G= (p.Ala3168=) c.9505G= (p.Ala3169=) c.10048G= (p.Ala3350=) c.10000G= (p.Ala3334=) c.9979G= (p.Ala3327=) c.10051G= (p.Ala3351=) c.9772G= (p.Ala3258=) c.9556G= (p.Ala3186=) c.9697G= (p.Ala3233=) c.9646G= (p.Ala3216=) c.9643G= (p.Ala3215=) | dbSNP |