| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178534554G>A | CA16610212 | TTN,TTN-AS1 | c.94357C>T (p.Gln31453Ter) c.75442C>T (p.Gln25148Ter) c.75241C>T (p.Gln25081Ter) c.74866C>T (p.Gln24956Ter) c.102061C>T (p.Gln34021Ter) c.97138C>T (p.Gln32380Ter) n.446+10918G>A n.220-1178G>A c.101158C>T (p.Gln33720Ter) c.75052C>T (p.Gln25018Ter) c.74911C>T (p.Gln24971Ter) c.100954C>T (p.Gln33652Ter) c.96352C>T (p.Gln32118Ter) c.96349C>T (p.Gln32117Ter) c.93391C>T (p.Gln31131Ter) c.75007C>T (p.Gln25003Ter) c.96502C>T (p.Gln32168Ter) c.96499C>T (p.Gln32167Ter) c.95932C>T (p.Gln31978Ter) c.93274C>T (p.Gln31092Ter) c.93193C>T (p.Gln31065Ter) c.74956C>T (p.Gln24986Ter) c.64810C>T (p.Gln21604Ter) | ClinVar dbSNP |
| 2 | g.178534554G= | CA1310519136 | TTN,TTN-AS1 | c.94357C= (p.Gln31453=) c.75442C= (p.Gln25148=) c.75241C= (p.Gln25081=) c.74866C= (p.Gln24956=) c.102061C= (p.Gln34021=) c.97138C= (p.Gln32380=) n.446+10918G= n.220-1178G= c.101158C= (p.Gln33720=) c.75052C= (p.Gln25018=) c.74911C= (p.Gln24971=) c.100954C= (p.Gln33652=) c.96352C= (p.Gln32118=) c.96349C= (p.Gln32117=) c.93391C= (p.Gln31131=) c.75007C= (p.Gln25003=) c.96502C= (p.Gln32168=) c.96499C= (p.Gln32167=) c.95932C= (p.Gln31978=) c.93274C= (p.Gln31092=) c.93193C= (p.Gln31065=) c.74956C= (p.Gln24986=) c.64810C= (p.Gln21604=) | dbSNP |