| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178740125G>A | CA256517 | TTN | c.10361-1765C>T (n.10361-1765C>T) c.12595C>T (p.Gln4199Ter) c.12394C>T (p.Gln4132Ter) c.12019C>T (p.Gln4007Ter) c.13108C>T (p.Gln4370Ter) c.12157C>T (p.Gln4053Ter) c.12205C>T (p.Gln4069Ter) c.12064C>T (p.Gln4022Ter) c.12160C>T (p.Gln4054Ter) c.10364-1765C>T (n.10364-1765C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178740125G= | CA1310601876 | TTN | c.10361-1765C= (n.10361-1765C=) c.12595C= (p.Gln4199=) c.12394C= (p.Gln4132=) c.12019C= (p.Gln4007=) c.13108C= (p.Gln4370=) c.12157C= (p.Gln4053=) c.12205C= (p.Gln4069=) c.12064C= (p.Gln4022=) c.12160C= (p.Gln4054=) c.10364-1765C= (n.10364-1765C=) | dbSNP |
| 2 | g.178740125G>C | CA349609367 | TTN | c.10361-1765C>G (n.10361-1765C>G) c.12595C>G (p.Gln4199Glu) c.12394C>G (p.Gln4132Glu) c.12019C>G (p.Gln4007Glu) c.13108C>G (p.Gln4370Glu) c.12157C>G (p.Gln4053Glu) c.12205C>G (p.Gln4069Glu) c.12064C>G (p.Gln4022Glu) c.12160C>G (p.Gln4054Glu) c.10364-1765C>G (n.10364-1765C>G) | dbSNP |