Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
NM_020137.5
p.E578A
c.1733A>C
NM_020137.5
p.L179P
c.536T>C
NM_020137.5
p.R822Q
c.2465G>A
NM_020137.5
p.E9Q
c.25G>C
NM_020137.5
p.Q16Q
c.48G>A
NM_020137.5
p.E19K
c.55G>A
NM_020137.5
p.Q26insFs
c.78dupG
NM_020137.5
p.S73N
c.218G>A
NM_020137.5
p.E74*
c.220G>T
NM_020137.5
p.R90H
c.269G>A
NM_020137.5
p.L96del1
c.286_288delTAG
NM_020137.5
p.K102_L103Splc
c.307-3C>T