Papers
RefSeq ID
Protein change
DNA change
1–12 of 204 variants
NM_001252.5
p.G66R
c.196G>C
NM_001252.5
p.G66R
c.196G>A
NM_001252.5
p.S84delFs
c.250delA
NM_001252.5
p.T111M
c.332C>T
NM_001252.5
p.R179*
c.535C>T
NM_001252.5
p.Q47*
c.139C>T
NM_001252.5
p.A58T
c.172G>A
NM_001252.5
p.G66R
c.196G>A
NM_001252.5
p.S146I
c.437G>T
NM_001252.5
p.R163*
c.487C>T
NM_001252.5
p.F186del1
c.556_557delAAA
NM_001252.5
p.M1T
c.2T>C