Papers
RefSeq ID
Protein change
DNA change
1–12 of 77 variants
NM_001125.4
p.H144_H145insFs
c.432_433insA
NM_001125.4
p.W266*
c.797G>A
NM_001125.4
p.W266*
c.798G>A
NM_001125.4
p.G22E
c.65G>A
NM_001125.4
p.P121L
c.362C>T
NM_001125.4
p.Q218P
c.653A>C
NM_001125.4
p.R295*
c.883C>T
NM_001125.4
p.E2fs
c.4_5fs
NM_001125.4
p.E2*
c.4G>T
NM_001125.4
p.L10L
c.30G>T
NM_001125.4
p.S11R
c.31A>C
NM_001125.4
p.S11R
c.33T>A