| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178561042G>T | CA1988696 | TTN,TTN-AS1 | c.77386C>A (p.Arg25796=) c.58471C>A (p.Arg19491=) c.58270C>A (p.Arg19424=) c.57895C>A (p.Arg19299=) c.85090C>A (p.Arg28364=) c.80167C>A (p.Arg26723=) n.447-10258G>T n.2043+18681G>T c.84187C>A (p.Arg28063=) c.58081C>A (p.Arg19361=) c.57940C>A (p.Arg19314=) c.83983C>A (p.Arg27995=) c.79381C>A (p.Arg26461=) c.79378C>A (p.Arg26460=) c.76420C>A (p.Arg25474=) c.58036C>A (p.Arg19346=) c.79531C>A (p.Arg26511=) c.79528C>A (p.Arg26510=) c.78961C>A (p.Arg26321=) c.76303C>A (p.Arg25435=) c.76222C>A (p.Arg25408=) c.57985C>A (p.Arg19329=) c.47839C>A (p.Arg15947=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178561042G>A | CA090441 | TTN,TTN-AS1 | c.77386C>T (p.Arg25796Ter) c.58471C>T (p.Arg19491Ter) c.58270C>T (p.Arg19424Ter) c.57895C>T (p.Arg19299Ter) c.85090C>T (p.Arg28364Ter) c.80167C>T (p.Arg26723Ter) n.447-10258G>A n.2043+18681G>A c.84187C>T (p.Arg28063Ter) c.58081C>T (p.Arg19361Ter) c.57940C>T (p.Arg19314Ter) c.83983C>T (p.Arg27995Ter) c.79381C>T (p.Arg26461Ter) c.79378C>T (p.Arg26460Ter) c.76420C>T (p.Arg25474Ter) c.58036C>T (p.Arg19346Ter) c.79531C>T (p.Arg26511Ter) c.79528C>T (p.Arg26510Ter) c.78961C>T (p.Arg26321Ter) c.76303C>T (p.Arg25435Ter) c.76222C>T (p.Arg25408Ter) c.57985C>T (p.Arg19329Ter) c.47839C>T (p.Arg15947Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |