Papers
RefSeq ID
Protein change
DNA change
1–12 of 92 variants
NM_001265.6
p.C132*
c.396C>A
NM_001265.6
p.V306fs
c.916_917fs
NM_001265.6
p.R237H
c.710G>A
NM_001265.6
p.P293S
c.877C>T
NM_001265.6
p.S100P
c.298T>C
NM_001265.6
p.V306delFs
c.916delC
NM_001265.6
p.G23fs
c.67_68fs
NM_001265.6
p.V181V
c.543G>C
NM_001265.6
p.R228S
c.684G>T
NM_001265.6
p.R228S
c.684G>C
NM_001265.6
p.K248del1
c.742_744delCTT
NM_001265.6
p.P260L
c.779C>T