| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178767769T>C | CA284252 | TTN | c.9461A>G (p.Lys3154Arg) c.9323A>G (p.Lys3108Arg) c.57A>G c.9509A>G (p.Lys3170Arg) c.9368A>G (p.Lys3123Arg) c.9506A>G (p.Lys3169Arg) c.9464A>G (p.Lys3155Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178767769T= | CA1310613893 | TTN | c.9461A= (p.Lys3154=) c.9323A= (p.Lys3108=) c.57A= c.9509A= (p.Lys3170=) c.9368A= (p.Lys3123=) c.9506A= (p.Lys3169=) c.9464A= (p.Lys3155=) | dbSNP |