Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_021109.4
p.Q40*
c.118C>T
NM_021109.4
p.D3V
c.8A>T
NM_021109.4
p.P5S
c.13C>T
NM_021109.4
p.A8T
c.22G>A
NM_021109.4
p.I10S
c.29T>G
NM_021109.4
p.E22_T23delFs
c.66_67delGA
NM_021109.4
p.E22fs
c.64_65fs
NM_021109.4
p.Q24*
c.70C>T
NM_021109.4
p.P30S
c.88C>T
NM_021109.4
p.T34Splc
c.100+1G>C
NM_021109.4
p.M1T
c.2T>C
NM_021109.4
p.M1R
c.2T>G