Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178578078C>ACA088467TTN,TTN-AS1c.63514G>T (p.Glu21172Ter)
c.68437G>T (p.Glu22813Ter)
c.41242G>T (p.Glu13748Ter)
c.60733G>T (p.Glu20245Ter)
c.41617G>T (p.Glu13873Ter)
c.41818G>T (p.Glu13940Ter)
n.596+6629C>A
n.2044-4494C>A
c.67534G>T (p.Glu22512Ter)
c.41428G>T (p.Glu13810Ter)
c.41287G>T (p.Glu13763Ter)
c.67330G>T (p.Glu22444Ter)
c.62728G>T (p.Glu20910Ter)
c.62725G>T (p.Glu20909Ter)
c.59767G>T (p.Glu19923Ter)
c.41383G>T (p.Glu13795Ter)
c.62878G>T (p.Glu20960Ter)
c.62875G>T (p.Glu20959Ter)
c.62308G>T (p.Glu20770Ter)
c.59650G>T (p.Glu19884Ter)
c.59569G>T (p.Glu19857Ter)
c.41332G>T (p.Glu13778Ter)
c.31186G>T (p.Glu10396Ter)
ClinVar dbSNP
2g.178578078C>TCA181741TTN,TTN-AS1c.63514G>A (p.Glu21172Lys)
c.68437G>A (p.Glu22813Lys)
c.41242G>A (p.Glu13748Lys)
c.60733G>A (p.Glu20245Lys)
c.41617G>A (p.Glu13873Lys)
c.41818G>A (p.Glu13940Lys)
n.596+6629C>T
n.2044-4494C>T
c.67534G>A (p.Glu22512Lys)
c.41428G>A (p.Glu13810Lys)
c.41287G>A (p.Glu13763Lys)
c.67330G>A (p.Glu22444Lys)
c.62728G>A (p.Glu20910Lys)
c.62725G>A (p.Glu20909Lys)
c.59767G>A (p.Glu19923Lys)
c.41383G>A (p.Glu13795Lys)
c.62878G>A (p.Glu20960Lys)
c.62875G>A (p.Glu20959Lys)
c.62308G>A (p.Glu20770Lys)
c.59650G>A (p.Glu19884Lys)
c.59569G>A (p.Glu19857Lys)
c.41332G>A (p.Glu13778Lys)
c.31186G>A (p.Glu10396Lys)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched