Papers
RefSeq ID
Protein change
DNA change
1–12 of 178 variants
NM_013318.4
p.M417V
c.1249A>G
NM_013318.4
p.A1265T
c.3793G>A
NM_013318.4
p.V80I
c.238G>A
NM_013318.4
p.D280G
c.839A>G
NM_013318.4
p.R773C
c.2317C>T
NM_013318.4
p.R1113*
c.3337C>T
NM_013318.4
p.E1473K
c.4417G>A
NM_013318.4
p.G1549R
c.4645G>A
NM_013318.4
p.G1549R
c.4645G>C
NM_013318.4
p.E1700K
c.5098G>A
NM_013318.4
p.Q1814*
c.5440C>T
NM_013318.4
p.M1V
c.1A>G