| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178613870C>T | CA10588327 | TTN,TTN-AS1 | c.41709G>A (p.Trp13903Ter) c.22794G>A (p.Trp7598Ter) c.22593G>A (p.Trp7531Ter) c.22218G>A (p.Trp7406Ter) c.49413G>A (p.Trp16471Ter) c.44490G>A (p.Trp14830Ter) n.783-165C>T c.48510G>A (p.Trp16170Ter) c.22404G>A (p.Trp7468Ter) c.22263G>A (p.Trp7421Ter) c.48306G>A (p.Trp16102Ter) c.43704G>A (p.Trp14568Ter) c.43701G>A (p.Trp14567Ter) c.40743G>A (p.Trp13581Ter) c.22359G>A (p.Trp7453Ter) c.43854G>A (p.Trp14618Ter) c.43851G>A (p.Trp14617Ter) c.43284G>A (p.Trp14428Ter) c.40626G>A (p.Trp13542Ter) c.40545G>A (p.Trp13515Ter) c.22308G>A (p.Trp7436Ter) c.12162G>A (p.Trp4054Ter) | ClinVar dbSNP |
| 2 | g.178613870C>A | CA139810 | TTN,TTN-AS1 | c.41709G>T (p.Trp13903Cys) c.22794G>T (p.Trp7598Cys) c.22593G>T (p.Trp7531Cys) c.22218G>T (p.Trp7406Cys) c.49413G>T (p.Trp16471Cys) c.44490G>T (p.Trp14830Cys) n.783-165C>A c.48510G>T (p.Trp16170Cys) c.22404G>T (p.Trp7468Cys) c.22263G>T (p.Trp7421Cys) c.48306G>T (p.Trp16102Cys) c.43704G>T (p.Trp14568Cys) c.43701G>T (p.Trp14567Cys) c.40743G>T (p.Trp13581Cys) c.22359G>T (p.Trp7453Cys) c.43854G>T (p.Trp14618Cys) c.43851G>T (p.Trp14617Cys) c.43284G>T (p.Trp14428Cys) c.40626G>T (p.Trp13542Cys) c.40545G>T (p.Trp13515Cys) c.22308G>T (p.Trp7436Cys) c.12162G>T (p.Trp4054Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178613870C>G | CA349604648 | TTN,TTN-AS1 | c.41709G>C (p.Trp13903Cys) c.22794G>C (p.Trp7598Cys) c.22593G>C (p.Trp7531Cys) c.22218G>C (p.Trp7406Cys) c.49413G>C (p.Trp16471Cys) c.44490G>C (p.Trp14830Cys) n.783-165C>G c.48510G>C (p.Trp16170Cys) c.22404G>C (p.Trp7468Cys) c.22263G>C (p.Trp7421Cys) c.48306G>C (p.Trp16102Cys) c.43704G>C (p.Trp14568Cys) c.43701G>C (p.Trp14567Cys) c.40743G>C (p.Trp13581Cys) c.22359G>C (p.Trp7453Cys) c.43854G>C (p.Trp14618Cys) c.43851G>C (p.Trp14617Cys) c.43284G>C (p.Trp14428Cys) c.40626G>C (p.Trp13542Cys) c.40545G>C (p.Trp13515Cys) c.22308G>C (p.Trp7436Cys) c.12162G>C (p.Trp4054Cys) | dbSNP gnomAD v4 |
| 2 | g.178613870C= | CA1310549106 | TTN,TTN-AS1 | c.41709G= (p.Trp13903=) c.22794G= (p.Trp7598=) c.22593G= (p.Trp7531=) c.22218G= (p.Trp7406=) c.49413G= (p.Trp16471=) c.44490G= (p.Trp14830=) n.783-165C= c.48510G= (p.Trp16170=) c.22404G= (p.Trp7468=) c.22263G= (p.Trp7421=) c.48306G= (p.Trp16102=) c.43704G= (p.Trp14568=) c.43701G= (p.Trp14567=) c.40743G= (p.Trp13581=) c.22359G= (p.Trp7453=) c.43854G= (p.Trp14618=) c.43851G= (p.Trp14617=) c.43284G= (p.Trp14428=) c.40626G= (p.Trp13542=) c.40545G= (p.Trp13515=) c.22308G= (p.Trp7436=) c.12162G= (p.Trp4054=) | dbSNP |