| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130433393C>T | CA5283046 | HMCN2 | c.14883C>T (p.Pro4961=) c.14940C>T (p.Pro4980=) n.3286C>T c.14880C>T (p.Pro4960=) c.14817C>T (p.Pro4939=) c.14808C>T (p.Pro4936=) c.14763C>T (p.Pro4921=) c.11721C>T (p.Pro3907=) c.7518C>T (p.Pro2506=) n.92+228G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.130433393C>A | CA200583081 | HMCN2 | c.14883C>A (p.Pro4961=) c.14940C>A (p.Pro4980=) n.3286C>A c.14880C>A (p.Pro4960=) c.14817C>A (p.Pro4939=) c.14808C>A (p.Pro4936=) c.14763C>A (p.Pro4921=) c.11721C>A (p.Pro3907=) c.7518C>A (p.Pro2506=) n.92+228G>T | dbSNP gnomAD v4 |