Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178563892G>C | CA60987239 | TTN,TTN-AS1 | c.74536C>G (p.Arg24846Gly) c.55621C>G (p.Arg18541Gly) c.55420C>G (p.Arg18474Gly) c.55045C>G (p.Arg18349Gly) c.82240C>G (p.Arg27414Gly) c.77317C>G (p.Arg25773Gly) n.447-7408G>C n.2044-18680G>C c.81337C>G (p.Arg27113Gly) c.55231C>G (p.Arg18411Gly) c.55090C>G (p.Arg18364Gly) c.81133C>G (p.Arg27045Gly) c.76531C>G (p.Arg25511Gly) c.76528C>G (p.Arg25510Gly) c.73570C>G (p.Arg24524Gly) c.55186C>G (p.Arg18396Gly) c.76681C>G (p.Arg25561Gly) c.76678C>G (p.Arg25560Gly) c.76111C>G (p.Arg25371Gly) c.73453C>G (p.Arg24485Gly) c.73372C>G (p.Arg24458Gly) c.55135C>G (p.Arg18379Gly) c.44989C>G (p.Arg14997Gly) | dbSNP |
2 | g.178563892G>A | CA309342 | TTN,TTN-AS1 | c.74536C>T (p.Arg24846Ter) c.55621C>T (p.Arg18541Ter) c.55420C>T (p.Arg18474Ter) c.55045C>T (p.Arg18349Ter) c.82240C>T (p.Arg27414Ter) c.77317C>T (p.Arg25773Ter) n.447-7408G>A n.2044-18680G>A c.81337C>T (p.Arg27113Ter) c.55231C>T (p.Arg18411Ter) c.55090C>T (p.Arg18364Ter) c.81133C>T (p.Arg27045Ter) c.76531C>T (p.Arg25511Ter) c.76528C>T (p.Arg25510Ter) c.73570C>T (p.Arg24524Ter) c.55186C>T (p.Arg18396Ter) c.76681C>T (p.Arg25561Ter) c.76678C>T (p.Arg25560Ter) c.76111C>T (p.Arg25371Ter) c.73453C>T (p.Arg24485Ter) c.73372C>T (p.Arg24458Ter) c.55135C>T (p.Arg18379Ter) c.44989C>T (p.Arg14997Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178563892G= | CA1310528670 | TTN,TTN-AS1 | c.74536C= (p.Arg24846=) c.55621C= (p.Arg18541=) c.55420C= (p.Arg18474=) c.55045C= (p.Arg18349=) c.82240C= (p.Arg27414=) c.77317C= (p.Arg25773=) n.447-7408G= n.2044-18680G= c.81337C= (p.Arg27113=) c.55231C= (p.Arg18411=) c.55090C= (p.Arg18364=) c.81133C= (p.Arg27045=) c.76531C= (p.Arg25511=) c.76528C= (p.Arg25510=) c.73570C= (p.Arg24524=) c.55186C= (p.Arg18396=) c.76681C= (p.Arg25561=) c.76678C= (p.Arg25560=) c.76111C= (p.Arg25371=) c.73453C= (p.Arg24485=) c.73372C= (p.Arg24458=) c.55135C= (p.Arg18379=) c.44989C= (p.Arg14997=) | dbSNP |