Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_017945.5
p.N247D
c.739A>G
NM_017945.5
p.C6C
c.18T>C
NM_017945.5
p.E43K
c.127G>A
NM_017945.5
p.V54L
c.160G>C
NM_017945.5
p.V54L
c.160G>T
NM_017945.5
p.L60P
c.179T>C
NM_017945.5
p.K76delFs
c.228delA
NM_017945.5
p.D77Splc
c.229+9T>C
NM_017945.5
p.L83L
c.249G>A
NM_017945.5
p.M95V
c.283A>G
NM_017945.5
p.L118R
c.353T>G
NM_017945.5
p.A176E
c.527C>A