Papers
RefSeq ID
Protein change
DNA change
1–12 of 116 variants
NM_004531.5
p.M1I
c.3G>A
NM_004531.5
p.K180delFs
c.539_540delTT
NM_004531.5
p.H123Y
c.367C>T
NM_004531.5
p.K180fs
c.538_539fs
NM_004531.5
p.G76R
c.226G>A
NM_004531.5
p.G76R
c.226G>C
NM_004531.5
p.G76R
c.226G>A
NM_004531.5
p.S140F
c.419C>T
NM_004531.5
p.E168K
c.502G>A
NM_004531.5
p.M1I
c.3G>T
NM_004531.5
p.M1I
c.3G>C
NM_004531.5
p.M1delFs
c.2delA