Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178527188C>ACA10604093TTN,TTN-AS1c.100096G>T (p.Gly33366Ter)
c.81181G>T (p.Gly27061Ter)
c.80980G>T (p.Gly26994Ter)
c.80605G>T (p.Gly26869Ter)
c.107800G>T (p.Gly35934Ter)
c.102877G>T (p.Gly34293Ter)
n.446+3552C>A
n.219+3552C>A
c.106897G>T (p.Gly35633Ter)
c.80791G>T (p.Gly26931Ter)
c.80650G>T (p.Gly26884Ter)
c.106693G>T (p.Gly35565Ter)
c.102091G>T (p.Gly34031Ter)
c.102088G>T (p.Gly34030Ter)
c.99130G>T (p.Gly33044Ter)
c.80746G>T (p.Gly26916Ter)
c.102241G>T (p.Gly34081Ter)
c.102238G>T (p.Gly34080Ter)
c.101671G>T (p.Gly33891Ter)
c.99013G>T (p.Gly33005Ter)
c.98932G>T (p.Gly32978Ter)
c.80695G>T (p.Gly26899Ter)
c.70549G>T (p.Gly23517Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178527188C>TCA60948776TTN,TTN-AS1c.100096G>A (p.Gly33366Arg)
c.81181G>A (p.Gly27061Arg)
c.80980G>A (p.Gly26994Arg)
c.80605G>A (p.Gly26869Arg)
c.107800G>A (p.Gly35934Arg)
c.102877G>A (p.Gly34293Arg)
n.446+3552C>T
n.219+3552C>T
c.106897G>A (p.Gly35633Arg)
c.80791G>A (p.Gly26931Arg)
c.80650G>A (p.Gly26884Arg)
c.106693G>A (p.Gly35565Arg)
c.102091G>A (p.Gly34031Arg)
c.102088G>A (p.Gly34030Arg)
c.99130G>A (p.Gly33044Arg)
c.80746G>A (p.Gly26916Arg)
c.102241G>A (p.Gly34081Arg)
c.102238G>A (p.Gly34080Arg)
c.101671G>A (p.Gly33891Arg)
c.99013G>A (p.Gly33005Arg)
c.98932G>A (p.Gly32978Arg)
c.80695G>A (p.Gly26899Arg)
c.70549G>A (p.Gly23517Arg)
 ClinVar dbSNP
2g.178527188C=CA1310514344TTN,TTN-AS1c.100096G= (p.Gly33366=)
c.81181G= (p.Gly27061=)
c.80980G= (p.Gly26994=)
c.80605G= (p.Gly26869=)
c.107800G= (p.Gly35934=)
c.102877G= (p.Gly34293=)
n.446+3552C=
n.219+3552C=
c.106897G= (p.Gly35633=)
c.80791G= (p.Gly26931=)
c.80650G= (p.Gly26884=)
c.106693G= (p.Gly35565=)
c.102091G= (p.Gly34031=)
c.102088G= (p.Gly34030=)
c.99130G= (p.Gly33044=)
c.80746G= (p.Gly26916=)
c.102241G= (p.Gly34081=)
c.102238G= (p.Gly34080=)
c.101671G= (p.Gly33891=)
c.99013G= (p.Gly33005=)
c.98932G= (p.Gly32978=)
c.80695G= (p.Gly26899=)
c.70549G= (p.Gly23517=)
 dbSNP

Number of alleles fetched