| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178546050C>A | CA358824 | TTN,TTN-AS1 | c.87482G>T (p.Trp29161Leu) c.68567G>T (p.Trp22856Leu) c.68366G>T (p.Trp22789Leu) c.67991G>T (p.Trp22664Leu) c.95186G>T (p.Trp31729Leu) c.90263G>T (p.Trp30088Leu) n.446+22414C>A n.2043+3689C>A c.94283G>T (p.Trp31428Leu) c.68177G>T (p.Trp22726Leu) c.68036G>T (p.Trp22679Leu) c.94079G>T (p.Trp31360Leu) c.89477G>T (p.Trp29826Leu) c.89474G>T (p.Trp29825Leu) c.86516G>T (p.Trp28839Leu) c.68132G>T (p.Trp22711Leu) c.89627G>T (p.Trp29876Leu) c.89624G>T (p.Trp29875Leu) c.89057G>T (p.Trp29686Leu) c.86399G>T (p.Trp28800Leu) c.86318G>T (p.Trp28773Leu) c.68081G>T (p.Trp22694Leu) c.57935G>T (p.Trp19312Leu) | ClinVar dbSNP |
| 2 | g.178546050C>G | CA237686 | TTN,TTN-AS1 | c.87482G>C (p.Trp29161Ser) c.68567G>C (p.Trp22856Ser) c.68366G>C (p.Trp22789Ser) c.67991G>C (p.Trp22664Ser) c.95186G>C (p.Trp31729Ser) c.90263G>C (p.Trp30088Ser) n.446+22414C>G n.2043+3689C>G c.94283G>C (p.Trp31428Ser) c.68177G>C (p.Trp22726Ser) c.68036G>C (p.Trp22679Ser) c.94079G>C (p.Trp31360Ser) c.89477G>C (p.Trp29826Ser) c.89474G>C (p.Trp29825Ser) c.86516G>C (p.Trp28839Ser) c.68132G>C (p.Trp22711Ser) c.89627G>C (p.Trp29876Ser) c.89624G>C (p.Trp29875Ser) c.89057G>C (p.Trp29686Ser) c.86399G>C (p.Trp28800Ser) c.86318G>C (p.Trp28773Ser) c.68081G>C (p.Trp22694Ser) c.57935G>C (p.Trp19312Ser) | ClinVar dbSNP |
| 2 | g.178546050C= | CA1310522704 | TTN,TTN-AS1 | c.87482G= (p.Trp29161=) c.68567G= (p.Trp22856=) c.68366G= (p.Trp22789=) c.67991G= (p.Trp22664=) c.95186G= (p.Trp31729=) c.90263G= (p.Trp30088=) n.446+22414C= n.2043+3689C= c.94283G= (p.Trp31428=) c.68177G= (p.Trp22726=) c.68036G= (p.Trp22679=) c.94079G= (p.Trp31360=) c.89477G= (p.Trp29826=) c.89474G= (p.Trp29825=) c.86516G= (p.Trp28839=) c.68132G= (p.Trp22711=) c.89627G= (p.Trp29876=) c.89624G= (p.Trp29875=) c.89057G= (p.Trp29686=) c.86399G= (p.Trp28800=) c.86318G= (p.Trp28773=) c.68081G= (p.Trp22694=) c.57935G= (p.Trp19312=) | dbSNP |