Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_004339.4
p.C121del1
c.361_362delGCA
NM_004339.4
p.T62S
c.184A>T
NM_004339.4
p.T62S
c.185C>G
NM_004339.4
p.G106R
c.316G>C
NM_004339.4
p.G106R
c.316G>A
NM_004339.4
p.R146W
c.436C>T
NM_004339.4
p.R150Splc
c.449+2T>A
NM_004339.4
p.G4R
c.10G>C
NM_004339.4
p.G4R
c.10G>A
NM_004339.4
p.L24delFs
c.71delA
NM_004339.4
p.A39Splc
c.115+1G>C
NM_004339.4
p.S41delFs
c.121delA