Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178557795C>ACA16610256TTN,TTN-AS1c.79855G>T (p.Glu26619Ter)
c.60940G>T (p.Glu20314Ter)
c.60739G>T (p.Glu20247Ter)
c.60364G>T (p.Glu20122Ter)
c.87559G>T (p.Glu29187Ter)
c.82636G>T (p.Glu27546Ter)
n.447-13505C>A
n.2043+15434C>A
c.86656G>T (p.Glu28886Ter)
c.60550G>T (p.Glu20184Ter)
c.60409G>T (p.Glu20137Ter)
c.86452G>T (p.Glu28818Ter)
c.81850G>T (p.Glu27284Ter)
c.81847G>T (p.Glu27283Ter)
c.78889G>T (p.Glu26297Ter)
c.60505G>T (p.Glu20169Ter)
c.82000G>T (p.Glu27334Ter)
c.81997G>T (p.Glu27333Ter)
c.81430G>T (p.Glu27144Ter)
c.78772G>T (p.Glu26258Ter)
c.78691G>T (p.Glu26231Ter)
c.60454G>T (p.Glu20152Ter)
c.50308G>T (p.Glu16770Ter)
ClinVar dbSNP
2g.178557795C>TCA349535546TTN,TTN-AS1c.79855G>A (p.Glu26619Lys)
c.60940G>A (p.Glu20314Lys)
c.60739G>A (p.Glu20247Lys)
c.60364G>A (p.Glu20122Lys)
c.87559G>A (p.Glu29187Lys)
c.82636G>A (p.Glu27546Lys)
n.447-13505C>T
n.2043+15434C>T
c.86656G>A (p.Glu28886Lys)
c.60550G>A (p.Glu20184Lys)
c.60409G>A (p.Glu20137Lys)
c.86452G>A (p.Glu28818Lys)
c.81850G>A (p.Glu27284Lys)
c.81847G>A (p.Glu27283Lys)
c.78889G>A (p.Glu26297Lys)
c.60505G>A (p.Glu20169Lys)
c.82000G>A (p.Glu27334Lys)
c.81997G>A (p.Glu27333Lys)
c.81430G>A (p.Glu27144Lys)
c.78772G>A (p.Glu26258Lys)
c.78691G>A (p.Glu26231Lys)
c.60454G>A (p.Glu20152Lys)
c.50308G>A (p.Glu16770Lys)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched