Papers
RefSeq ID
Protein change
DNA change
1–12 of 63 variants
NM_001319074.4
p.R87Q
c.260G>A
NM_001319074.4
p.G139_G141ins1
c.417_422dup6
NM_001319074.4
p.S49P
c.145T>C
NM_001319074.4
p.P52R
c.155C>G
NM_001319074.4
p.R79Q
c.236G>A
NM_001319074.4
p.A156fs
c.466_467fs
NM_001319074.4
p.F155_F159delFs
c.465_475del11
NM_001319074.4
p.A113fs
c.337_338fs
NM_001319074.4
p.G137R
c.409G>C
NM_001319074.4
p.S4R
c.10A>C
NM_001319074.4
p.S4R
c.12C>G
NM_001319074.4
p.S4R
c.12C>A