Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
NM_006822.3
p.R185Q
c.554G>A
NM_006822.3
p.R62W
c.184C>T
NM_006822.3
p.S2R
c.4A>C
NM_006822.3
p.L19P
c.56T>C
NM_006822.3
p.V25M
c.73G>A
NM_006822.3
p.V25_G26insFs
c.75_76insA
NM_006822.3
p.K27M
c.80A>T
NM_006822.3
p.A32E
c.95C>A
NM_006822.3
p.A38V
c.113C>T
NM_006822.3
p.P46Q
c.137C>A
NM_006822.3
p.A47V
c.140C>T
NM_006822.3
p.D59Fs
c.175_177delinsTCFs