Papers
RefSeq ID
Protein change
DNA change
1–12 of 116 variants
NM_001004416.3
p.R253C
c.757C>T
NM_001004416.3
p.E271K
c.811G>A
NM_001004416.3
p.D1136N
c.3406G>A
NM_001004416.3
p.G6E
c.17G>A
NM_001004416.3
p.Q20L
c.59A>T
NM_001004416.3
p.G23D
c.68G>A
NM_001004416.3
p.E26Splc
c.76+1G>C
NM_001004416.3
p.V41L
c.121G>C
NM_001004416.3
p.V41L
c.121G>T
NM_001004416.3
p.S60C
c.179C>G
NM_001004416.3
p.W67R
c.199T>A
NM_001004416.3
p.W67R
c.199T>C