Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_000954.6
p.A22E
c.65C>A
NM_000954.6
p.T3S
c.8C>G
NM_000954.6
p.L79V
c.235C>G
NM_000954.6
p.T6T
c.18A>G
NM_000954.6
p.A12V
c.35C>T
NM_000954.6
p.A22T
c.64G>A
NM_000954.6
p.P24P
c.72G>A
NM_000954.6
p.G41fs
c.121_122fs
NM_000954.6
p.R42_W43insFs
c.124_127dup4
NM_000954.6
p.R42G
c.124C>G
NM_000954.6
p.G47A
c.140G>C
NM_000954.6
p.E57_K58del1
c.170_172delAGA