Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_020385.4
p.Q222*
c.664C>T
NM_020385.4
p.P22_V23del0
c.64_69del6
NM_020385.4
p.S46N
c.137G>A
NM_020385.4
p.N69H
c.205A>C
NM_020385.4
p.E64_N69del0
c.192_206del15
NM_020385.4
p.E64_N69del6
c.190_206del18
NM_020385.4
p.W76delFs
c.227delC
NM_020385.4
p.Q83*
c.247C>T
NM_020385.4
p.K99R
c.296A>G
NM_020385.4
p.K107I
c.320A>T
NM_020385.4
p.E109fs
c.325_326fs
NM_020385.4
p.R140M
c.419G>T