| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178559695C>T | CA60983857 | TTN,TTN-AS1 | c.78733G>A (p.Glu26245Lys) c.59818G>A (p.Glu19940Lys) c.59617G>A (p.Glu19873Lys) c.59242G>A (p.Glu19748Lys) c.86437G>A (p.Glu28813Lys) c.81514G>A (p.Glu27172Lys) n.447-11605C>T n.2043+17334C>T c.85534G>A (p.Glu28512Lys) c.59428G>A (p.Glu19810Lys) c.59287G>A (p.Glu19763Lys) c.85330G>A (p.Glu28444Lys) c.80728G>A (p.Glu26910Lys) c.80725G>A (p.Glu26909Lys) c.77767G>A (p.Glu25923Lys) c.59383G>A (p.Glu19795Lys) c.80878G>A (p.Glu26960Lys) c.80875G>A (p.Glu26959Lys) c.80308G>A (p.Glu26770Lys) c.77650G>A (p.Glu25884Lys) c.77569G>A (p.Glu25857Lys) c.59332G>A (p.Glu19778Lys) c.49186G>A (p.Glu16396Lys) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178559695C>A | CA10576468 | TTN,TTN-AS1 | c.78733G>T (p.Glu26245Ter) c.59818G>T (p.Glu19940Ter) c.59617G>T (p.Glu19873Ter) c.59242G>T (p.Glu19748Ter) c.86437G>T (p.Glu28813Ter) c.81514G>T (p.Glu27172Ter) n.447-11605C>A n.2043+17334C>A c.85534G>T (p.Glu28512Ter) c.59428G>T (p.Glu19810Ter) c.59287G>T (p.Glu19763Ter) c.85330G>T (p.Glu28444Ter) c.80728G>T (p.Glu26910Ter) c.80725G>T (p.Glu26909Ter) c.77767G>T (p.Glu25923Ter) c.59383G>T (p.Glu19795Ter) c.80878G>T (p.Glu26960Ter) c.80875G>T (p.Glu26959Ter) c.80308G>T (p.Glu26770Ter) c.77650G>T (p.Glu25884Ter) c.77569G>T (p.Glu25857Ter) c.59332G>T (p.Glu19778Ter) c.49186G>T (p.Glu16396Ter) | ClinVar dbSNP |
| 2 | g.178559695C>G | CA349543815 | TTN,TTN-AS1 | c.78733G>C (p.Glu26245Gln) c.59818G>C (p.Glu19940Gln) c.59617G>C (p.Glu19873Gln) c.59242G>C (p.Glu19748Gln) c.86437G>C (p.Glu28813Gln) c.81514G>C (p.Glu27172Gln) n.447-11605C>G n.2043+17334C>G c.85534G>C (p.Glu28512Gln) c.59428G>C (p.Glu19810Gln) c.59287G>C (p.Glu19763Gln) c.85330G>C (p.Glu28444Gln) c.80728G>C (p.Glu26910Gln) c.80725G>C (p.Glu26909Gln) c.77767G>C (p.Glu25923Gln) c.59383G>C (p.Glu19795Gln) c.80878G>C (p.Glu26960Gln) c.80875G>C (p.Glu26959Gln) c.80308G>C (p.Glu26770Gln) c.77650G>C (p.Glu25884Gln) c.77569G>C (p.Glu25857Gln) c.59332G>C (p.Glu19778Gln) c.49186G>C (p.Glu16396Gln) | dbSNP |
| 2 | g.178559695C= | CA1310526737 | TTN,TTN-AS1 | c.78733G= (p.Glu26245=) c.59818G= (p.Glu19940=) c.59617G= (p.Glu19873=) c.59242G= (p.Glu19748=) c.86437G= (p.Glu28813=) c.81514G= (p.Glu27172=) n.447-11605C= n.2043+17334C= c.85534G= (p.Glu28512=) c.59428G= (p.Glu19810=) c.59287G= (p.Glu19763=) c.85330G= (p.Glu28444=) c.80728G= (p.Glu26910=) c.80725G= (p.Glu26909=) c.77767G= (p.Glu25923=) c.59383G= (p.Glu19795=) c.80878G= (p.Glu26960=) c.80875G= (p.Glu26959=) c.80308G= (p.Glu26770=) c.77650G= (p.Glu25884=) c.77569G= (p.Glu25857=) c.59332G= (p.Glu19778=) c.49186G= (p.Glu16396=) | dbSNP |