Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_001350978.3
p.I1006V
c.3016A>G
NM_001350978.3
p.P71ins12
c.211_212ins36
NM_001350978.3
p.M907T
c.2720T>C
NM_001350978.3
p.R983R
c.2949G>A
NM_001350978.3
p.L1063P
c.3188T>C
NM_001350978.3
p.E1103D
c.3309A>T
NM_001350978.3
p.E1103D
c.3309A>C
NM_001350978.3
p.F38L
c.112T>C
NM_001350978.3
p.F38L
c.114C>G
NM_001350978.3
p.F38L
c.114C>A
NM_001350978.3
p.K63_R64Splc
c.190-1109A>G
NM_001350978.3
p.P71insFs
c.211_212ins29