| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21880156T>C | CA673121 | HSPG2 | c.2294A>G (p.Asn765Ser) c.2297A>G (p.Asn766Ser) c.2345A>G (p.Asn782Ser) c.2348A>G (p.Asn783Ser) c.2489A>G (p.Asn830Ser) c.2438A>G (p.Asn813Ser) c.2435A>G (p.Asn812Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21880156T>G | CA673122 | HSPG2 | c.2294A>C (p.Asn765Thr) c.2297A>C (p.Asn766Thr) c.2345A>C (p.Asn782Thr) c.2348A>C (p.Asn783Thr) c.2489A>C (p.Asn830Thr) c.2438A>C (p.Asn813Thr) c.2435A>C (p.Asn812Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21880156T>A | CA338965187 | HSPG2 | c.2294A>T (p.Asn765Ile) c.2297A>T (p.Asn766Ile) c.2345A>T (p.Asn782Ile) c.2348A>T (p.Asn783Ile) c.2489A>T (p.Asn830Ile) c.2438A>T (p.Asn813Ile) c.2435A>T (p.Asn812Ile) | dbSNP |