| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178552140C>T | CA349506836 | TTN,TTN-AS1 | c.83056G>A (p.Gly27686Arg) c.64141G>A (p.Gly21381Arg) c.63940G>A (p.Gly21314Arg) c.63565G>A (p.Gly21189Arg) c.90760G>A (p.Gly30254Arg) c.85837G>A (p.Gly28613Arg) n.447-19160C>T n.2043+9779C>T c.89857G>A (p.Gly29953Arg) c.63751G>A (p.Gly21251Arg) c.63610G>A (p.Gly21204Arg) c.89653G>A (p.Gly29885Arg) c.85051G>A (p.Gly28351Arg) c.85048G>A (p.Gly28350Arg) c.82090G>A (p.Gly27364Arg) c.63706G>A (p.Gly21236Arg) c.85201G>A (p.Gly28401Arg) c.85198G>A (p.Gly28400Arg) c.84631G>A (p.Gly28211Arg) c.81973G>A (p.Gly27325Arg) c.81892G>A (p.Gly27298Arg) c.63655G>A (p.Gly21219Arg) c.53509G>A (p.Gly17837Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178552140C>A | CA16610331 | TTN,TTN-AS1 | c.83056G>T (p.Gly27686Ter) c.64141G>T (p.Gly21381Ter) c.63940G>T (p.Gly21314Ter) c.63565G>T (p.Gly21189Ter) c.90760G>T (p.Gly30254Ter) c.85837G>T (p.Gly28613Ter) n.447-19160C>A n.2043+9779C>A c.89857G>T (p.Gly29953Ter) c.63751G>T (p.Gly21251Ter) c.63610G>T (p.Gly21204Ter) c.89653G>T (p.Gly29885Ter) c.85051G>T (p.Gly28351Ter) c.85048G>T (p.Gly28350Ter) c.82090G>T (p.Gly27364Ter) c.63706G>T (p.Gly21236Ter) c.85201G>T (p.Gly28401Ter) c.85198G>T (p.Gly28400Ter) c.84631G>T (p.Gly28211Ter) c.81973G>T (p.Gly27325Ter) c.81892G>T (p.Gly27298Ter) c.63655G>T (p.Gly21219Ter) c.53509G>T (p.Gly17837Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178552140C>G | CA349506835 | TTN,TTN-AS1 | c.83056G>C (p.Gly27686Arg) c.64141G>C (p.Gly21381Arg) c.63940G>C (p.Gly21314Arg) c.63565G>C (p.Gly21189Arg) c.90760G>C (p.Gly30254Arg) c.85837G>C (p.Gly28613Arg) n.447-19160C>G n.2043+9779C>G c.89857G>C (p.Gly29953Arg) c.63751G>C (p.Gly21251Arg) c.63610G>C (p.Gly21204Arg) c.89653G>C (p.Gly29885Arg) c.85051G>C (p.Gly28351Arg) c.85048G>C (p.Gly28350Arg) c.82090G>C (p.Gly27364Arg) c.63706G>C (p.Gly21236Arg) c.85201G>C (p.Gly28401Arg) c.85198G>C (p.Gly28400Arg) c.84631G>C (p.Gly28211Arg) c.81973G>C (p.Gly27325Arg) c.81892G>C (p.Gly27298Arg) c.63655G>C (p.Gly21219Arg) c.53509G>C (p.Gly17837Arg) | dbSNP gnomAD v4 |
| 2 | g.178552140C= | CA1310521532 | TTN,TTN-AS1 | c.83056G= (p.Gly27686=) c.64141G= (p.Gly21381=) c.63940G= (p.Gly21314=) c.63565G= (p.Gly21189=) c.90760G= (p.Gly30254=) c.85837G= (p.Gly28613=) n.447-19160C= n.2043+9779C= c.89857G= (p.Gly29953=) c.63751G= (p.Gly21251=) c.63610G= (p.Gly21204=) c.89653G= (p.Gly29885=) c.85051G= (p.Gly28351=) c.85048G= (p.Gly28350=) c.82090G= (p.Gly27364=) c.63706G= (p.Gly21236=) c.85201G= (p.Gly28401=) c.85198G= (p.Gly28400=) c.84631G= (p.Gly28211=) c.81973G= (p.Gly27325=) c.81892G= (p.Gly27298=) c.63655G= (p.Gly21219=) c.53509G= (p.Gly17837=) | dbSNP |