Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_173478.3
p.R49C
c.145C>T
NM_173478.3
p.Q94K
c.280C>A
NM_173478.3
p.R8Q
c.23G>A
NM_173478.3
p.S9L
c.26C>T
NM_173478.3
p.Q35*
c.103C>T
NM_173478.3
p.K70E
c.208A>G
NM_173478.3
p.R93K
c.278G>A
NM_173478.3
p.L163L
c.489G>A
NM_173478.3
p.R176Q
c.527G>A
NM_173478.3
p.R176R
c.528A>C
NM_173478.3
p.G194Splc
c.581-1G>A
NM_173478.3
p.P201R
c.602C>G