Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.115046506T>ACA5207770TNCc.318-4165A>T
c.3215-4165A>T (n.3215-4165A>T)
c.3940A>T (p.Ile1314Leu)
c.1972A>T (p.Ile658Leu)
c.628A>T (p.Ile210Leu)
c.3987A>T
c.5029A>T (p.Ile1677Leu)
c.4483A>T (p.Ile1495Leu)
c.4307-4165A>T (n.4307-4165A>T)
n.347A>T
n.253-4165A>T
n.40-4165A>T
c.716A>T
c.4756A>T (p.Ile1586Leu)
c.4034-4165A>T (n.4034-4165A>T)
c.3391A>T (p.Ile1131Leu)
c.5305A>T (p.Ile1769Leu)
c.3488-4165A>T (n.3488-4165A>T)
c.5032A>T (p.Ile1678Leu)
c.4486A>T (p.Ile1496Leu)
c.4580-4165A>T (n.4580-4165A>T)
c.4213A>T (p.Ile1405Leu)
c.3761-4165A>T (n.3761-4165A>T)
c.3664A>T (p.Ile1222Leu)
c.5578A>T (p.Ile1860Leu)
c.5302A>T (p.Ile1768Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.115046506T>CCA374630871TNCc.318-4165A>G
c.3215-4165A>G (n.3215-4165A>G)
c.3940A>G (p.Ile1314Val)
c.1972A>G (p.Ile658Val)
c.628A>G (p.Ile210Val)
c.3987A>G
c.5029A>G (p.Ile1677Val)
c.4483A>G (p.Ile1495Val)
c.4307-4165A>G (n.4307-4165A>G)
n.347A>G
n.253-4165A>G
n.40-4165A>G
c.716A>G
c.4756A>G (p.Ile1586Val)
c.4034-4165A>G (n.4034-4165A>G)
c.3391A>G (p.Ile1131Val)
c.5305A>G (p.Ile1769Val)
c.3488-4165A>G (n.3488-4165A>G)
c.5032A>G (p.Ile1678Val)
c.4486A>G (p.Ile1496Val)
c.4580-4165A>G (n.4580-4165A>G)
c.4213A>G (p.Ile1405Val)
c.3761-4165A>G (n.3761-4165A>G)
c.3664A>G (p.Ile1222Val)
c.5578A>G (p.Ile1860Val)
c.5302A>G (p.Ile1768Val)
 dbSNP gnomAD v4
9g.115046506T=CA1874118892TNCc.318-4165A=
c.3215-4165A= (n.3215-4165A=)
c.3940A= (p.Ile1314=)
c.1972A= (p.Ile658=)
c.628A= (p.Ile210=)
c.3987A=
c.5029A= (p.Ile1677=)
c.4483A= (p.Ile1495=)
c.4307-4165A= (n.4307-4165A=)
n.347A=
n.253-4165A=
n.40-4165A=
c.716A=
c.4756A= (p.Ile1586=)
c.4034-4165A= (n.4034-4165A=)
c.3391A= (p.Ile1131=)
c.5305A= (p.Ile1769=)
c.3488-4165A= (n.3488-4165A=)
c.5032A= (p.Ile1678=)
c.4486A= (p.Ile1496=)
c.4580-4165A= (n.4580-4165A=)
c.4213A= (p.Ile1405=)
c.3761-4165A= (n.3761-4165A=)
c.3664A= (p.Ile1222=)
c.5578A= (p.Ile1860=)
c.5302A= (p.Ile1768=)
 dbSNP

Number of alleles fetched