Papers
RefSeq ID
Protein change
DNA change
1–12 of 57 variants
NM_006899.5
p.Q39_A40Splc
c.118-3G>C
NM_006899.5
p.E62*
c.184G>T
NM_006899.5
p.I163fs
c.487_488fs
NM_006899.5
p.T360A
c.1078A>G
NM_006899.5
p.M1T
c.2T>C
NM_006899.5
p.M1_A2insFs
c.3_4insT
NM_006899.5
p.R12*
c.34C>T
NM_006899.5
p.P20fs
c.58_59fs
NM_006899.5
p.P20delFs
c.59delG
NM_006899.5
p.G25D
c.74G>A
NM_006899.5
p.V45_E46Fs
c.134_136delinsCCFs
NM_006899.5
p.V59M
c.175G>A