Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_005028.5
p.N251S
c.752A>G
NM_005028.5
p.Y138F
c.413A>T
NM_005028.5
p.L7I
c.19C>A
NM_005028.5
p.S10delFs
c.28delA
NM_005028.5
p.V28del1
c.82_83delCAC
NM_005028.5
p.K29N
c.87G>C
NM_005028.5
p.W43L
c.128G>T
NM_005028.5
p.S48_I49Splc
c.145-2A>T
NM_005028.5
p.I49N
c.146T>A
NM_005028.5
p.V55D
c.164T>A
NM_005028.5
p.I72V
c.214A>G
NM_005028.5
p.Y93Y
c.279C>T