| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21899250G>C | CA15091002 | HSPG2 | c.64-2940C>G (n.64-2940C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21899250G>A | CA731622011 | HSPG2 | c.64-2940C>T (n.64-2940C>T) | dbSNP |
| 1 | g.21899250G= | CA1139935264 | HSPG2 | c.64-2940C= (n.64-2940C=) | dbSNP |