Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_001383.6
p.F234S
c.701T>C
NM_001383.6
p.V6E
c.17T>A
NM_001383.6
p.L125S
c.374T>C
NM_001383.6
p.E96delFs
c.288delG
NM_001383.6
p.S255I
c.764G>T
NM_001383.6
p.K409delFs
c.1227delG
NM_001383.6
p.Q43P
c.128A>C
NM_001383.6
p.A109G
c.326C>G
NM_001383.6
p.L120P
c.359T>C
NM_001383.6
p.S162F
c.485C>T
NM_001383.6
p.A10T
c.28G>A
NM_001383.6
p.G13S
c.37G>A