Papers
RefSeq ID
Protein change
DNA change
1–12 of 187 variants
NM_014071.5
p.Q269Q
c.807G>A
NM_014071.5
p.Q1030_Q1031del1
c.3090_3092delTGC
NM_014071.5
p.F52L
c.154T>C
NM_014071.5
p.F52L
c.156C>G
NM_014071.5
p.F52L
c.156C>A
NM_014071.5
p.W344delFs
c.1030_1031delCA
NM_014071.5
p.L349F
c.1047G>T
NM_014071.5
p.L349F
c.1047G>C
NM_014071.5
p.Q1030_Q1031del2
c.3088_3092del6
NM_014071.5
p.T1176A
c.3526A>G
NM_014071.5
p.S169T
c.506G>C
NM_014071.5
p.R209L
c.626G>T