Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_017861.4
p.A2S
c.4G>T
NM_017861.4
p.R40S
c.120G>C
NM_017861.4
p.R40S
c.120G>T
NM_017861.4
p.R59Splc
c.176+2T>C
NM_017861.4
p.L89F
c.265C>T
NM_017861.4
p.P93L
c.278C>T
NM_017861.4
p.E106_A107Splc
c.318+2T>C
NM_017861.4
p.L146F
c.438G>C
NM_017861.4
p.L146F
c.438G>T
NM_017861.4
p.H149P
c.446A>C
NM_017861.4
p.P155L
c.464C>T
NM_017861.4
p.M207I
c.621G>A