| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178533666G>A | CA261918 | TTN,TTN-AS1 | c.95245C>T (p.Gln31749Ter) c.76330C>T (p.Gln25444Ter) c.76129C>T (p.Gln25377Ter) c.75754C>T (p.Gln25252Ter) c.102949C>T (p.Gln34317Ter) c.98026C>T (p.Gln32676Ter) n.446+10030G>A n.220-2066G>A c.102046C>T (p.Gln34016Ter) c.75940C>T (p.Gln25314Ter) c.75799C>T (p.Gln25267Ter) c.101842C>T (p.Gln33948Ter) c.97240C>T (p.Gln32414Ter) c.97237C>T (p.Gln32413Ter) c.94279C>T (p.Gln31427Ter) c.75895C>T (p.Gln25299Ter) c.97390C>T (p.Gln32464Ter) c.97387C>T (p.Gln32463Ter) c.96820C>T (p.Gln32274Ter) c.94162C>T (p.Gln31388Ter) c.94081C>T (p.Gln31361Ter) c.75844C>T (p.Gln25282Ter) c.65698C>T (p.Gln21900Ter) | ClinVar dbSNP |
| 2 | g.178533666G= | CA1310518758 | TTN,TTN-AS1 | c.95245C= (p.Gln31749=) c.76330C= (p.Gln25444=) c.76129C= (p.Gln25377=) c.75754C= (p.Gln25252=) c.102949C= (p.Gln34317=) c.98026C= (p.Gln32676=) n.446+10030G= n.220-2066G= c.102046C= (p.Gln34016=) c.75940C= (p.Gln25314=) c.75799C= (p.Gln25267=) c.101842C= (p.Gln33948=) c.97240C= (p.Gln32414=) c.97237C= (p.Gln32413=) c.94279C= (p.Gln31427=) c.75895C= (p.Gln25299=) c.97390C= (p.Gln32464=) c.97387C= (p.Gln32463=) c.96820C= (p.Gln32274=) c.94162C= (p.Gln31388=) c.94081C= (p.Gln31361=) c.75844C= (p.Gln25282=) c.65698C= (p.Gln21900=) | dbSNP |