Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_001291941.3
p.S67*
c.200C>A
NM_001291941.3
p.S67*
c.200C>G
NM_001291941.3
p.M1insFs
c.3dupG
NM_001291941.3
p.E16G
c.47A>G
NM_001291941.3
p.L33M
c.97T>A
NM_001291941.3
p.F51insFs
c.151_152insT
NM_001291941.3
p.I61M
c.183A>G
NM_001291941.3
p.K66R
c.197A>G
NM_001291941.3
p.Q69R
c.206A>G
NM_001291941.3
p.V81L
c.241G>C
NM_001291941.3
p.Y108F
c.323A>T
NM_001291941.3
p.Q127P
c.380A>C