Papers
RefSeq ID
Protein change
DNA change
1–12 of 63 variants
NM_178523.5
p.Q204*
c.610C>T
NM_178523.5
p.Q4_G5Splc
c.13-1G>A
NM_178523.5
p.E15Q
c.43G>C
NM_178523.5
p.G47Splc
c.139+5G>A
NM_178523.5
p.G47Splc
c.140-2A>T
NM_178523.5
p.C52S
c.154T>A
NM_178523.5
p.C52S
c.155G>C
NM_178523.5
p.E56E
c.168A>G
NM_178523.5
p.Q91K
c.271C>A
NM_178523.5
p.V111M
c.331G>A
NM_178523.5
p.V113L
c.337G>T
NM_178523.5
p.V113L
c.337G>C