| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.91350738C>T | CA151145 | HFM1 | c.2206G>A (p.Gly736Ser) n.132+1768G>A c.439G>A (p.Gly147Ser) c.2080G>A (p.Gly694Ser) c.1783G>A (p.Gly595Ser) c.1243G>A (p.Gly415Ser) c.1033G>A (p.Gly345Ser) n.2233G>A c.535G>A (p.Gly179Ser) n.2249G>A n.2070+1768G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.91350738C= | CA1148224390 | HFM1 | c.2206G= (p.Gly736=) n.132+1768G= c.439G= (p.Gly147=) c.2080G= (p.Gly694=) c.1783G= (p.Gly595=) c.1243G= (p.Gly415=) c.1033G= (p.Gly345=) n.2233G= c.535G= (p.Gly179=) n.2249G= n.2070+1768G= | dbSNP |