Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
NM_020927.3
p.R179W
c.535C>T
NM_020927.3
p.E10K
c.28G>A
NM_020927.3
p.E17K
c.49G>A
NM_020927.3
p.E41_M42delFs
c.122_126del5
NM_020927.3
p.F50fs
c.148_149fs
NM_020927.3
p.G51insFs
c.151dupG
NM_020927.3
p.V75A
c.224T>C
NM_020927.3
p.G108fs
c.322_323fs
NM_020927.3
p.A112S
c.334G>T
NM_020927.3
p.I122_V126delFs
c.364_377del14
NM_020927.3
p.I122_V126del5
c.364_377del15
NM_020927.3
p.R125H
c.374G>A