Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_032486.4
p.I47V
c.139A>G
NM_032486.4
p.E94*
c.280G>T
NM_032486.4
p.E137G
c.410A>G
NM_032486.4
p.G151Splc
c.452-1G>A
NM_032486.4
p.M1V
c.1A>G
NM_032486.4
p.L3M
c.7T>A
NM_032486.4
p.L3*
c.8T>A
NM_032486.4
p.G4delFs
c.10_11delGG
NM_032486.4
p.K10_S11del2
c.28_32del6
NM_032486.4
p.E12A
c.35A>C
NM_032486.4
p.T16_A17Splc
c.49-2A>G
NM_032486.4
p.A17T
c.49G>A