Papers
RefSeq ID
Protein change
DNA change
1–12 of 103 variants
NM_002112.4
p.W317*
c.950G>A
NM_002112.4
p.W317*
c.951G>A
NM_002112.4
p.T31M
c.92C>T
NM_002112.4
p.T581T
c.1743G>A
NM_002112.4
p.G142G
c.426C>A
NM_002112.4
p.G11Splc
c.31+52C>T
NM_002112.4
p.L185I
c.553C>A
NM_002112.4
p.S354G
c.1060A>G
NM_002112.4
p.R468*
c.1402C>T
NM_002112.4
p.I494V
c.1480A>G
NM_002112.4
p.I522L
c.1564A>C
NM_002112.4
p.E644D
c.1932A>T