Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_182581.4
p.A69V
c.206C>T
NM_182581.4
p.R174R
c.522G>A
NM_182581.4
p.R217H
c.650G>A
NM_182581.4
p.E2del1
c.4_5delCTC
NM_182581.4
p.D24N
c.70G>A
NM_182581.4
p.P53fs
c.157_158fs
NM_182581.4
p.Y56F
c.167A>T
NM_182581.4
p.D73Splc
c.218-3C>T
NM_182581.4
p.D78D
c.234T>C
NM_182581.4
p.S97F
c.290C>T
NM_182581.4
p.K184R
c.551A>G
NM_182581.4
p.C185C
c.555C>T