| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178568920G>A | CA16603992 | TTN,TTN-AS1 | c.69508C>T (p.Gln23170Ter) c.50593C>T (p.Gln16865Ter) c.50392C>T (p.Gln16798Ter) c.50017C>T (p.Gln16673Ter) c.77212C>T (p.Gln25738Ter) c.72289C>T (p.Gln24097Ter) n.447-2380G>A n.2044-13652G>A c.76309C>T (p.Gln25437Ter) c.50203C>T (p.Gln16735Ter) c.50062C>T (p.Gln16688Ter) c.76105C>T (p.Gln25369Ter) c.71503C>T (p.Gln23835Ter) c.71500C>T (p.Gln23834Ter) c.68542C>T (p.Gln22848Ter) c.50158C>T (p.Gln16720Ter) c.71653C>T (p.Gln23885Ter) c.71650C>T (p.Gln23884Ter) c.71083C>T (p.Gln23695Ter) c.68425C>T (p.Gln22809Ter) c.68344C>T (p.Gln22782Ter) c.50107C>T (p.Gln16703Ter) c.39961C>T (p.Gln13321Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178568920G>T | CA349611872 | TTN,TTN-AS1 | c.69508C>A (p.Gln23170Lys) c.50593C>A (p.Gln16865Lys) c.50392C>A (p.Gln16798Lys) c.50017C>A (p.Gln16673Lys) c.77212C>A (p.Gln25738Lys) c.72289C>A (p.Gln24097Lys) n.447-2380G>T n.2044-13652G>T c.76309C>A (p.Gln25437Lys) c.50203C>A (p.Gln16735Lys) c.50062C>A (p.Gln16688Lys) c.76105C>A (p.Gln25369Lys) c.71503C>A (p.Gln23835Lys) c.71500C>A (p.Gln23834Lys) c.68542C>A (p.Gln22848Lys) c.50158C>A (p.Gln16720Lys) c.71653C>A (p.Gln23885Lys) c.71650C>A (p.Gln23884Lys) c.71083C>A (p.Gln23695Lys) c.68425C>A (p.Gln22809Lys) c.68344C>A (p.Gln22782Lys) c.50107C>A (p.Gln16703Lys) c.39961C>A (p.Gln13321Lys) | dbSNP gnomAD v4 |
| 2 | g.178568920G= | CA1310530812 | TTN,TTN-AS1 | c.69508C= (p.Gln23170=) c.50593C= (p.Gln16865=) c.50392C= (p.Gln16798=) c.50017C= (p.Gln16673=) c.77212C= (p.Gln25738=) c.72289C= (p.Gln24097=) n.447-2380G= n.2044-13652G= c.76309C= (p.Gln25437=) c.50203C= (p.Gln16735=) c.50062C= (p.Gln16688=) c.76105C= (p.Gln25369=) c.71503C= (p.Gln23835=) c.71500C= (p.Gln23834=) c.68542C= (p.Gln22848=) c.50158C= (p.Gln16720=) c.71653C= (p.Gln23885=) c.71650C= (p.Gln23884=) c.71083C= (p.Gln23695=) c.68425C= (p.Gln22809=) c.68344C= (p.Gln22782=) c.50107C= (p.Gln16703=) c.39961C= (p.Gln13321=) | dbSNP |