| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178562851C>T | CA140946 | TTN,TTN-AS1 | c.75577G>A (p.Val25193Ile) c.56662G>A (p.Val18888Ile) c.56461G>A (p.Val18821Ile) c.56086G>A (p.Val18696Ile) c.83281G>A (p.Val27761Ile) c.78358G>A (p.Val26120Ile) n.447-8449C>T n.2044-19721C>T c.82378G>A (p.Val27460Ile) c.56272G>A (p.Val18758Ile) c.56131G>A (p.Val18711Ile) c.82174G>A (p.Val27392Ile) c.77572G>A (p.Val25858Ile) c.77569G>A (p.Val25857Ile) c.74611G>A (p.Val24871Ile) c.56227G>A (p.Val18743Ile) c.77722G>A (p.Val25908Ile) c.77719G>A (p.Val25907Ile) c.77152G>A (p.Val25718Ile) c.74494G>A (p.Val24832Ile) c.74413G>A (p.Val24805Ile) c.56176G>A (p.Val18726Ile) c.46030G>A (p.Val15344Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178562851C>G | CA1988947 | TTN,TTN-AS1 | c.75577G>C (p.Val25193Leu) c.56662G>C (p.Val18888Leu) c.56461G>C (p.Val18821Leu) c.56086G>C (p.Val18696Leu) c.83281G>C (p.Val27761Leu) c.78358G>C (p.Val26120Leu) n.447-8449C>G n.2044-19721C>G c.82378G>C (p.Val27460Leu) c.56272G>C (p.Val18758Leu) c.56131G>C (p.Val18711Leu) c.82174G>C (p.Val27392Leu) c.77572G>C (p.Val25858Leu) c.77569G>C (p.Val25857Leu) c.74611G>C (p.Val24871Leu) c.56227G>C (p.Val18743Leu) c.77722G>C (p.Val25908Leu) c.77719G>C (p.Val25907Leu) c.77152G>C (p.Val25718Leu) c.74494G>C (p.Val24832Leu) c.74413G>C (p.Val24805Leu) c.56176G>C (p.Val18726Leu) c.46030G>C (p.Val15344Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |