Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
NM_016426.7
p.D8Y
c.22G>T
NM_016426.7
p.D482E
c.1446C>A
NM_016426.7
p.D482E
c.1446C>G
NM_016426.7
p.Q722*
c.2164C>T
NM_016426.7
p.A185V
c.554C>T
NM_016426.7
p.T200A
c.598A>G
NM_016426.7
p.R276Q
c.827G>A
NM_016426.7
p.S341N
c.1022G>A
NM_016426.7
p.S454A
c.1360T>G
NM_016426.7
p.W525R
c.1573T>A
NM_016426.7
p.W525R
c.1573T>C
NM_016426.7
p.W525*
c.1574G>A