| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178578078C>T | CA181741 | TTN,TTN-AS1 | c.60733G>A (p.Glu20245Lys) c.41818G>A (p.Glu13940Lys) c.41617G>A (p.Glu13873Lys) c.41242G>A (p.Glu13748Lys) c.68437G>A (p.Glu22813Lys) c.63514G>A (p.Glu21172Lys) n.596+6629C>T n.2044-4494C>T c.67534G>A (p.Glu22512Lys) c.41428G>A (p.Glu13810Lys) c.41287G>A (p.Glu13763Lys) c.67330G>A (p.Glu22444Lys) c.62728G>A (p.Glu20910Lys) c.62725G>A (p.Glu20909Lys) c.59767G>A (p.Glu19923Lys) c.41383G>A (p.Glu13795Lys) c.62878G>A (p.Glu20960Lys) c.62875G>A (p.Glu20959Lys) c.62308G>A (p.Glu20770Lys) c.59650G>A (p.Glu19884Lys) c.59569G>A (p.Glu19857Lys) c.41332G>A (p.Glu13778Lys) c.31186G>A (p.Glu10396Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178578078C>A | CA088467 | TTN,TTN-AS1 | c.60733G>T (p.Glu20245Ter) c.41818G>T (p.Glu13940Ter) c.41617G>T (p.Glu13873Ter) c.41242G>T (p.Glu13748Ter) c.68437G>T (p.Glu22813Ter) c.63514G>T (p.Glu21172Ter) n.596+6629C>A n.2044-4494C>A c.67534G>T (p.Glu22512Ter) c.41428G>T (p.Glu13810Ter) c.41287G>T (p.Glu13763Ter) c.67330G>T (p.Glu22444Ter) c.62728G>T (p.Glu20910Ter) c.62725G>T (p.Glu20909Ter) c.59767G>T (p.Glu19923Ter) c.41383G>T (p.Glu13795Ter) c.62878G>T (p.Glu20960Ter) c.62875G>T (p.Glu20959Ter) c.62308G>T (p.Glu20770Ter) c.59650G>T (p.Glu19884Ter) c.59569G>T (p.Glu19857Ter) c.41332G>T (p.Glu13778Ter) c.31186G>T (p.Glu10396Ter) | ClinVar dbSNP |
| 2 | g.178578078C>G | CA349672521 | TTN,TTN-AS1 | c.60733G>C (p.Glu20245Gln) c.41818G>C (p.Glu13940Gln) c.41617G>C (p.Glu13873Gln) c.41242G>C (p.Glu13748Gln) c.68437G>C (p.Glu22813Gln) c.63514G>C (p.Glu21172Gln) n.596+6629C>G n.2044-4494C>G c.67534G>C (p.Glu22512Gln) c.41428G>C (p.Glu13810Gln) c.41287G>C (p.Glu13763Gln) c.67330G>C (p.Glu22444Gln) c.62728G>C (p.Glu20910Gln) c.62725G>C (p.Glu20909Gln) c.59767G>C (p.Glu19923Gln) c.41383G>C (p.Glu13795Gln) c.62878G>C (p.Glu20960Gln) c.62875G>C (p.Glu20959Gln) c.62308G>C (p.Glu20770Gln) c.59650G>C (p.Glu19884Gln) c.59569G>C (p.Glu19857Gln) c.41332G>C (p.Glu13778Gln) c.31186G>C (p.Glu10396Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |