Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_145698.5
p.G402Splc
c.1205-1G>A
NM_145698.5
p.G402fs
c.1204_1205fs
NM_145698.5
p.T39M
c.116C>T
NM_145698.5
p.G144D
c.431G>A
NM_145698.5
p.K154E
c.460A>G
NM_145698.5
p.R433*
c.1297C>T
NM_145698.5
p.W489*
c.1467G>A
NM_145698.5
p.M1_L2ins1
c.3_4insTGT
NM_145698.5
p.R24S
c.72A>T
NM_145698.5
p.R24S
c.72A>C
NM_145698.5
p.D27G
c.80A>G
NM_145698.5
p.D27_R28insFs
c.81_82insA