| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178557800C>T | CA16042363 | TTN,TTN-AS1 | c.79850G>A (p.Trp26617Ter) c.60935G>A (p.Trp20312Ter) c.60734G>A (p.Trp20245Ter) c.60359G>A (p.Trp20120Ter) c.87554G>A (p.Trp29185Ter) c.82631G>A (p.Trp27544Ter) n.447-13500C>T n.2043+15439C>T c.86651G>A (p.Trp28884Ter) c.60545G>A (p.Trp20182Ter) c.60404G>A (p.Trp20135Ter) c.86447G>A (p.Trp28816Ter) c.81845G>A (p.Trp27282Ter) c.81842G>A (p.Trp27281Ter) c.78884G>A (p.Trp26295Ter) c.60500G>A (p.Trp20167Ter) c.81995G>A (p.Trp27332Ter) c.81992G>A (p.Trp27331Ter) c.81425G>A (p.Trp27142Ter) c.78767G>A (p.Trp26256Ter) c.78686G>A (p.Trp26229Ter) c.60449G>A (p.Trp20150Ter) c.50303G>A (p.Trp16768Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178557800C= | CA1310525930 | TTN,TTN-AS1 | c.79850G= (p.Trp26617=) c.60935G= (p.Trp20312=) c.60734G= (p.Trp20245=) c.60359G= (p.Trp20120=) c.87554G= (p.Trp29185=) c.82631G= (p.Trp27544=) n.447-13500C= n.2043+15439C= c.86651G= (p.Trp28884=) c.60545G= (p.Trp20182=) c.60404G= (p.Trp20135=) c.86447G= (p.Trp28816=) c.81845G= (p.Trp27282=) c.81842G= (p.Trp27281=) c.78884G= (p.Trp26295=) c.60500G= (p.Trp20167=) c.81995G= (p.Trp27332=) c.81992G= (p.Trp27331=) c.81425G= (p.Trp27142=) c.78767G= (p.Trp26256=) c.78686G= (p.Trp26229=) c.60449G= (p.Trp20150=) c.50303G= (p.Trp16768=) | dbSNP |