Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_194463.2
p.N204Y
c.610A>T
NM_194463.2
p.D88Y
c.262G>T
NM_194463.2
p.L93I
c.277C>A
NM_194463.2
p.R291H
c.872G>A
NM_194463.2
p.P3_P4del1
c.8_10delCGC
NM_194463.2
p.P3_P4insFs
c.9_10ins35
NM_194463.2
p.P5insFs
c.13_14insA
NM_194463.2
p.P5L
c.14C>T
NM_194463.2
p.G8_S10del3
c.22_29del9
NM_194463.2
p.G8_S10delFs
c.23_29del7
NM_194463.2
p.C11delFs
c.31delT
NM_194463.2
p.R12H
c.35G>A