Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
NM_003558.4
p.F127insFs
c.379dupT
NM_003558.4
p.T208M
c.623C>T
NM_003558.4
p.A415T
c.1243G>A
NM_003558.4
p.A10E
c.29C>A
NM_003558.4
p.K14R
c.41A>G
NM_003558.4
p.K23_T24Splc
c.70-20106T>C
NM_003558.4
p.G42C
c.124G>T
NM_003558.4
p.P48T
c.142C>A
NM_003558.4
p.P48R
c.143C>G
NM_003558.4
p.D80N
c.238G>A
NM_003558.4
p.P88L
c.263C>T
NM_003558.4
p.Y93_F94insFN
c.277_281ins6