Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_016309.3
p.S17T
c.49T>A
NM_016309.3
p.C19W
c.57C>G
NM_016309.3
p.W46*
c.137G>A
NM_016309.3
p.W46*
c.138G>A
NM_016309.3
p.Q154K
c.460C>A
NM_016309.3
p.D156Splc
c.467-1G>A
NM_016309.3
p.R236W
c.706C>T
NM_016309.3
p.Q264_K265Splc
c.793-3T>C
NM_016309.3
p.R267W
c.799C>T
NM_016309.3
p.R267Q
c.800G>A
NM_016309.3
p.G272V
c.815G>T
NM_016309.3
p.M312L
c.934A>C