Papers
RefSeq ID
Protein change
DNA change
1–12 of 76 variants
NM_001039999.3
p.R52P
c.155G>C
NM_001039999.3
p.A34E
c.101C>A
NM_001039999.3
p.D262A
c.785A>C
NM_001039999.3
p.R265P
c.794G>C
NM_001039999.3
p.D10A
c.29A>C
NM_001039999.3
p.F58I
c.172T>A
NM_001039999.3
p.S614A
c.1840T>G
NM_001039999.3
p.R233*
c.697A>T
NM_001039999.3
p.V345F
c.1033G>T
NM_001039999.3
p.S610A
c.1828T>G
NM_001039999.3
p.R820ins1
c.2458_2459insACC
NM_001039999.3
p.L9delFs
c.26_27delCA