Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_016474.5
p.Q273_T274Splc
c.819+2T>A
NM_016474.5
p.Q301delFs
c.902delA
NM_016474.5
p.P392P
c.1176G>A
NM_016474.5
p.*468W
c.1404A>G
NM_016474.5
p.L8delFs
c.23delT
NM_016474.5
p.S14_L15Splc
c.42+7G>C
NM_016474.5
p.S14_L15Splc
c.43-15C>T
NM_016474.5
p.F29I
c.85T>A
NM_016474.5
p.F29S
c.86T>C
NM_016474.5
p.E104K
c.310G>A
NM_016474.5
p.P153L
c.458C>T
NM_016474.5
p.E185G
c.554A>G