Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_212552.3
p.H96R
c.287A>G
NM_212552.3
p.R46*
c.136C>T
NM_212552.3
p.I67N
c.200T>A
NM_212552.3
p.K41insFs
c.123dupA
NM_212552.3
p.C59Y
c.176G>A
NM_212552.3
p.E42fs
c.124_125fs
NM_212552.3
p.R99W
c.295C>T
NM_212552.3
p.T53insFs
c.159dupT
NM_212552.3
p.E74del1
c.220_221delCTC
NM_212552.3
p.K75_T77delFs
c.225_229del5
NM_212552.3
p.P20Q
c.59C>A
NM_212552.3
p.K75fs
c.223_224fs