Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_016388.4
p.C7_P8delFs
c.19_23del5
NM_016388.4
p.L11L
c.33C>A
NM_016388.4
p.G19_V23del5
c.55_68del15
NM_016388.4
p.V147I
c.439G>A
NM_016388.4
p.C7insFs
c.20dupG
NM_016388.4
p.C7F
c.20G>T
NM_016388.4
p.P8H
c.23C>A
NM_016388.4
p.W12R
c.34T>A
NM_016388.4
p.W12R
c.34T>C
NM_016388.4
p.L14H
c.41T>A
NM_016388.4
p.S25*
c.74C>A
NM_016388.4
p.S25*
c.74C>G