| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178553039C>T | CA16610236 | TTN,TTN-AS1 | c.82157G>A (p.Trp27386Ter) c.63242G>A (p.Trp21081Ter) c.63041G>A (p.Trp21014Ter) c.62666G>A (p.Trp20889Ter) c.89861G>A (p.Trp29954Ter) c.84938G>A (p.Trp28313Ter) n.447-18261C>T n.2043+10678C>T c.88958G>A (p.Trp29653Ter) c.62852G>A (p.Trp20951Ter) c.62711G>A (p.Trp20904Ter) c.88754G>A (p.Trp29585Ter) c.84152G>A (p.Trp28051Ter) c.84149G>A (p.Trp28050Ter) c.81191G>A (p.Trp27064Ter) c.62807G>A (p.Trp20936Ter) c.84302G>A (p.Trp28101Ter) c.84299G>A (p.Trp28100Ter) c.83732G>A (p.Trp27911Ter) c.81074G>A (p.Trp27025Ter) c.80993G>A (p.Trp26998Ter) c.62756G>A (p.Trp20919Ter) c.52610G>A (p.Trp17537Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178553039C= | CA1310522536 | TTN,TTN-AS1 | c.82157G= (p.Trp27386=) c.63242G= (p.Trp21081=) c.63041G= (p.Trp21014=) c.62666G= (p.Trp20889=) c.89861G= (p.Trp29954=) c.84938G= (p.Trp28313=) n.447-18261C= n.2043+10678C= c.88958G= (p.Trp29653=) c.62852G= (p.Trp20951=) c.62711G= (p.Trp20904=) c.88754G= (p.Trp29585=) c.84152G= (p.Trp28051=) c.84149G= (p.Trp28050=) c.81191G= (p.Trp27064=) c.62807G= (p.Trp20936=) c.84302G= (p.Trp28101=) c.84299G= (p.Trp28100=) c.83732G= (p.Trp27911=) c.81074G= (p.Trp27025=) c.80993G= (p.Trp26998=) c.62756G= (p.Trp20919=) c.52610G= (p.Trp17537=) | dbSNP |