Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_014612.5
p.T118A
c.352A>G
NM_014612.5
p.R686H
c.2057G>A
NM_014612.5
p.Q828_A829Splc
c.2484+4T>G
NM_014612.5
p.A1073P
c.3217G>C
NM_014612.5
p.M1_G2insFs
c.3_4insA
NM_014612.5
p.P15R
c.44C>G
NM_014612.5
p.A17A
c.51C>A
NM_014612.5
p.T42S
c.124A>T
NM_014612.5
p.T42S
c.125C>G
NM_014612.5
p.R45L
c.134G>T
NM_014612.5
p.D49G
c.146A>G
NM_014612.5
p.D64fs
c.190_191fs