Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178563892G>CCA60987239TTN,TTN-AS1c.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
2g.178563892G>ACA309342TTN,TTN-AS1c.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
2g.178563892G=CA1310528670TTN,TTN-AS1c.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

Number of alleles fetched