Papers
RefSeq ID
Protein change
DNA change
1–12 of 79 variants
NM_138775.3
p.R625H
c.1874G>A
NM_138775.3
p.W504S
c.1511G>C
NM_138775.3
p.T478A
c.1432A>G
NM_138775.3
p.R481H
c.1442G>A
NM_138775.3
p.E15*
c.43G>T
NM_138775.3
p.T37K
c.110C>A
NM_138775.3
p.Q43_S44Splc
c.130-3A>G
NM_138775.3
p.G55S
c.163G>A
NM_138775.3
p.N59Y
c.175A>T
NM_138775.3
p.G69E
c.206G>A
NM_138775.3
p.D72A
c.215A>C
NM_138775.3
p.N79K
c.237C>G