Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
NM_001102562.3
p.H7Y
c.19C>T
NM_001102562.3
p.E331K
c.991G>A
NM_001102562.3
p.S2R
c.4A>C
NM_001102562.3
p.E21*
c.61G>T
NM_001102562.3
p.P22H
c.65C>A
NM_001102562.3
p.P32del1
c.94_95delCGG
NM_001102562.3
p.A124A
c.372C>T
NM_001102562.3
p.C186Y
c.557G>A
NM_001102562.3
p.C188R
c.562T>C
NM_001102562.3
p.V192I
c.574G>A
NM_001102562.3
p.C215W
c.645C>G
NM_001102562.3
p.V243F
c.727G>T