Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_004594.3
p.E703del1
c.2107_2109delGAG
NM_004594.3
p.V235delFs
c.703delG
NM_004594.3
p.S355A
c.1063T>G
NM_004594.3
p.A17A
c.51C>T
NM_004594.3
p.W39*
c.116G>A
NM_004594.3
p.W39*
c.117G>A
NM_004594.3
p.E43K
c.127G>A
NM_004594.3
p.V63fs
c.187_188fs
NM_004594.3
p.G105G
c.315C>T
NM_004594.3
p.F128I
c.382T>A
NM_004594.3
p.I205V
c.613A>G
NM_004594.3
p.E209K
c.625G>A