Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_018244.5
p.R51Q
c.152G>A
NM_018244.5
p.S15Y
c.44C>A
NM_018244.5
p.D35N
c.103G>A
NM_018244.5
p.R36S
c.108G>T
NM_018244.5
p.T41N
c.122C>A
NM_018244.5
p.Q43_W44Splc
c.130-1G>T
NM_018244.5
p.W44S
c.131G>C
NM_018244.5
p.Q65K
c.193C>A
NM_018244.5
p.R74C
c.220C>T
NM_018244.5
p.T78I
c.233C>T
NM_018244.5
p.K89E
c.265A>G
NM_018244.5
p.K95*
c.283A>T