| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178612477A>T | CA16603286 | TTN,TTN-AS1 | c.42344T>A (p.Ile14115Asn) c.23429T>A (p.Ile7810Asn) c.23228T>A (p.Ile7743Asn) c.22853T>A (p.Ile7618Asn) c.50048T>A (p.Ile16683Asn) c.45125T>A (p.Ile15042Asn) n.783-1558A>T c.49145T>A (p.Ile16382Asn) c.23039T>A (p.Ile7680Asn) c.22898T>A (p.Ile7633Asn) c.48941T>A (p.Ile16314Asn) c.44339T>A (p.Ile14780Asn) c.44336T>A (p.Ile14779Asn) c.41378T>A (p.Ile13793Asn) c.22994T>A (p.Ile7665Asn) c.44489T>A (p.Ile14830Asn) c.44486T>A (p.Ile14829Asn) c.43919T>A (p.Ile14640Asn) c.41261T>A (p.Ile13754Asn) c.41180T>A (p.Ile13727Asn) c.22943T>A (p.Ile7648Asn) c.12797T>A (p.Ile4266Asn) | ClinVar dbSNP |
| 2 | g.178612477A= | CA1310548565 | TTN,TTN-AS1 | c.42344T= (p.Ile14115=) c.23429T= (p.Ile7810=) c.23228T= (p.Ile7743=) c.22853T= (p.Ile7618=) c.50048T= (p.Ile16683=) c.45125T= (p.Ile15042=) n.783-1558A= c.49145T= (p.Ile16382=) c.23039T= (p.Ile7680=) c.22898T= (p.Ile7633=) c.48941T= (p.Ile16314=) c.44339T= (p.Ile14780=) c.44336T= (p.Ile14779=) c.41378T= (p.Ile13793=) c.22994T= (p.Ile7665=) c.44489T= (p.Ile14830=) c.44486T= (p.Ile14829=) c.43919T= (p.Ile14640=) c.41261T= (p.Ile13754=) c.41180T= (p.Ile13727=) c.22943T= (p.Ile7648=) c.12797T= (p.Ile4266=) | dbSNP |