Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_001915.4
p.W44*
c.131G>A
NM_001915.4
p.W44*
c.132G>A
NM_001915.4
p.G88R
c.262G>C
NM_001915.4
p.G88R
c.262G>A
NM_001915.4
p.P158Q
c.473C>A
NM_001915.4
p.A5A
c.15C>T
NM_001915.4
p.L37L
c.109C>T
NM_001915.4
p.Q49L
c.146A>T
NM_001915.4
p.H53Y
c.157C>T
NM_001915.4
p.I59L
c.175A>T
NM_001915.4
p.A68Splc
c.203-19C>T
NM_001915.4
p.R81H
c.242G>A