Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_001135705.3
p.R33H
c.98G>A
NM_001135705.3
p.E38Q
c.112G>C
NM_001135705.3
p.G2C
c.4G>T
NM_001135705.3
p.A19V
c.56C>T
NM_001135705.3
p.Q24H
c.72G>C
NM_001135705.3
p.Q24H
c.72G>T
NM_001135705.3
p.G30insFs
c.89_90insT
NM_001135705.3
p.Y43F
c.128A>T
NM_001135705.3
p.Y45*
c.135C>A
NM_001135705.3
p.Y45*
c.135C>G
NM_001135705.3
p.G52delFs
c.156delG
NM_001135705.3
p.P53_C54insFs
c.159_160insT