Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_014636.3
p.R381Q
c.1142G>A
NM_014636.3
p.G383C
c.1147G>T
NM_014636.3
p.V11M
c.31G>A
NM_014636.3
p.Q19_G20Splc
c.58-8C>A
NM_014636.3
p.S22R
c.64A>C
NM_014636.3
p.S22R
c.66C>A
NM_014636.3
p.S22R
c.66C>G
NM_014636.3
p.D40H
c.118G>C
NM_014636.3
p.L47fs
c.139_140fs
NM_014636.3
p.A93T
c.277G>A
NM_014636.3
p.R96W
c.286C>T
NM_014636.3
p.N137fs
c.409_410fs