Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178575970G>ACA309303TTN,TTN-AS1c.62458C>T (p.Arg20820Ter)
c.43543C>T (p.Arg14515Ter)
c.43342C>T (p.Arg14448Ter)
c.42967C>T (p.Arg14323Ter)
c.70162C>T (p.Arg23388Ter)
c.65239C>T (p.Arg21747Ter)
n.596+4521G>A
n.2044-6602G>A
c.69259C>T (p.Arg23087Ter)
c.43153C>T (p.Arg14385Ter)
c.43012C>T (p.Arg14338Ter)
c.69055C>T (p.Arg23019Ter)
c.64453C>T (p.Arg21485Ter)
c.64450C>T (p.Arg21484Ter)
c.61492C>T (p.Arg20498Ter)
c.43108C>T (p.Arg14370Ter)
c.64603C>T (p.Arg21535Ter)
c.64600C>T (p.Arg21534Ter)
c.64033C>T (p.Arg21345Ter)
c.61375C>T (p.Arg20459Ter)
c.61294C>T (p.Arg20432Ter)
c.43057C>T (p.Arg14353Ter)
c.32911C>T (p.Arg10971Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178575970G>CCA1990826TTN,TTN-AS1c.62458C>G (p.Arg20820Gly)
c.43543C>G (p.Arg14515Gly)
c.43342C>G (p.Arg14448Gly)
c.42967C>G (p.Arg14323Gly)
c.70162C>G (p.Arg23388Gly)
c.65239C>G (p.Arg21747Gly)
n.596+4521G>C
n.2044-6602G>C
c.69259C>G (p.Arg23087Gly)
c.43153C>G (p.Arg14385Gly)
c.43012C>G (p.Arg14338Gly)
c.69055C>G (p.Arg23019Gly)
c.64453C>G (p.Arg21485Gly)
c.64450C>G (p.Arg21484Gly)
c.61492C>G (p.Arg20498Gly)
c.43108C>G (p.Arg14370Gly)
c.64603C>G (p.Arg21535Gly)
c.64600C>G (p.Arg21534Gly)
c.64033C>G (p.Arg21345Gly)
c.61375C>G (p.Arg20459Gly)
c.61294C>G (p.Arg20432Gly)
c.43057C>G (p.Arg14353Gly)
c.32911C>G (p.Arg10971Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched