Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_145246.5
p.R16H
c.47G>A
NM_145246.5
p.E165_V166del1
c.494_496delCTT
NM_145246.5
p.K187_S188insFs
c.561_562ins4
NM_145246.5
p.T78R
c.233C>G
NM_145246.5
p.R161*
c.481C>T
NM_145246.5
p.S251F
c.752C>T
NM_145246.5
p.D30D
c.90T>C
NM_145246.5
p.V81I
c.241G>A
NM_145246.5
p.R110*
c.328C>T
NM_145246.5
p.S188fs
c.562_563fs
NM_145246.5
p.M1R
c.2T>G
NM_145246.5
p.M1K
c.2T>A