Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_004887.5
p.M1I
c.3G>A
NM_004887.5
p.L4L
c.12G>A
NM_004887.5
p.A6del1
c.16_18delGGC
NM_004887.5
p.Y16_A18del3
c.46_53del9
NM_004887.5
p.G22Splc
c.65-2A>T
NM_004887.5
p.G22A
c.65G>C
NM_004887.5
p.G22E
c.65G>A
NM_004887.5
p.S28T
c.82T>A
NM_004887.5
p.R29Q
c.86G>A
NM_004887.5
p.T60T
c.180C>T
NM_004887.5
p.K61R
c.182A>G
NM_004887.5
p.G68R
c.202G>C