| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36246120T>A | CA344238 | CLTA,GNE | c.620A>T (p.Asp207Val) c.350A>T (p.Asp117Val) c.527A>T (p.Asp176Val) c.486-17078T>A (n.486-17078T>A) c.512A>T (p.Asp171Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36246120T= | CA1846375234 | CLTA,GNE | c.620A= (p.Asp207=) c.350A= (p.Asp117=) c.527A= (p.Asp176=) c.486-17078T= (n.486-17078T=) c.512A= (p.Asp171=) | dbSNP |
| 9 | g.36246120T>C | CA373418286 | CLTA,GNE | c.620A>G (p.Asp207Gly) c.350A>G (p.Asp117Gly) c.527A>G (p.Asp176Gly) c.486-17078T>C (n.486-17078T>C) c.512A>G (p.Asp171Gly) | dbSNP gnomAD v4 |