| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178557795C>A | CA16610256 | TTN,TTN-AS1 | c.79855G>T (p.Glu26619Ter) c.60940G>T (p.Glu20314Ter) c.60739G>T (p.Glu20247Ter) c.60364G>T (p.Glu20122Ter) c.87559G>T (p.Glu29187Ter) c.82636G>T (p.Glu27546Ter) n.447-13505C>A n.2043+15434C>A c.86656G>T (p.Glu28886Ter) c.60550G>T (p.Glu20184Ter) c.60409G>T (p.Glu20137Ter) c.86452G>T (p.Glu28818Ter) c.81850G>T (p.Glu27284Ter) c.81847G>T (p.Glu27283Ter) c.78889G>T (p.Glu26297Ter) c.60505G>T (p.Glu20169Ter) c.82000G>T (p.Glu27334Ter) c.81997G>T (p.Glu27333Ter) c.81430G>T (p.Glu27144Ter) c.78772G>T (p.Glu26258Ter) c.78691G>T (p.Glu26231Ter) c.60454G>T (p.Glu20152Ter) c.50308G>T (p.Glu16770Ter) | ClinVar dbSNP |
| 2 | g.178557795C>T | CA349535546 | TTN,TTN-AS1 | c.79855G>A (p.Glu26619Lys) c.60940G>A (p.Glu20314Lys) c.60739G>A (p.Glu20247Lys) c.60364G>A (p.Glu20122Lys) c.87559G>A (p.Glu29187Lys) c.82636G>A (p.Glu27546Lys) n.447-13505C>T n.2043+15434C>T c.86656G>A (p.Glu28886Lys) c.60550G>A (p.Glu20184Lys) c.60409G>A (p.Glu20137Lys) c.86452G>A (p.Glu28818Lys) c.81850G>A (p.Glu27284Lys) c.81847G>A (p.Glu27283Lys) c.78889G>A (p.Glu26297Lys) c.60505G>A (p.Glu20169Lys) c.82000G>A (p.Glu27334Lys) c.81997G>A (p.Glu27333Lys) c.81430G>A (p.Glu27144Lys) c.78772G>A (p.Glu26258Lys) c.78691G>A (p.Glu26231Lys) c.60454G>A (p.Glu20152Lys) c.50308G>A (p.Glu16770Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178557795C= | CA1310525928 | TTN,TTN-AS1 | c.79855G= (p.Glu26619=) c.60940G= (p.Glu20314=) c.60739G= (p.Glu20247=) c.60364G= (p.Glu20122=) c.87559G= (p.Glu29187=) c.82636G= (p.Glu27546=) n.447-13505C= n.2043+15434C= c.86656G= (p.Glu28886=) c.60550G= (p.Glu20184=) c.60409G= (p.Glu20137=) c.86452G= (p.Glu28818=) c.81850G= (p.Glu27284=) c.81847G= (p.Glu27283=) c.78889G= (p.Glu26297=) c.60505G= (p.Glu20169=) c.82000G= (p.Glu27334=) c.81997G= (p.Glu27333=) c.81430G= (p.Glu27144=) c.78772G= (p.Glu26258=) c.78691G= (p.Glu26231=) c.60454G= (p.Glu20152=) c.50308G= (p.Glu16770=) | dbSNP |