Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_173825.5
p.S36*
c.107C>G
NM_173825.5
p.S36*
c.107C>A
NM_173825.5
p.R184Q
c.551G>A
NM_173825.5
p.V94I
c.280G>A
NM_173825.5
p.T38A
c.112A>G
NM_173825.5
p.D44G
c.131A>G
NM_173825.5
p.E52Q
c.154G>C
NM_173825.5
p.E57K
c.169G>A
NM_173825.5
p.S87S
c.261C>T
NM_173825.5
p.G90Splc
c.268+1G>A
NM_173825.5
p.D96H
c.286G>C
NM_173825.5
p.R107H
c.320G>A