Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_005222.4
p.P53del1
c.157_158delCCG
NM_005222.4
p.H86del1
c.256_258delCAC
NM_005222.4
p.Q44del1
c.130_131delCAG
NM_005222.4
p.Q44ins1
c.131_132insGCC
NM_005222.4
p.Y131_H132insGCC
c.391_395ins9
NM_005222.4
p.G164R
c.490G>A
NM_005222.4
p.G164R
c.490G>C
NM_005222.4
p.R219H
c.656G>A
NM_005222.4
p.G25_Q26del1
c.75_77delGCA
NM_005222.4
p.Q31_Q33del0
c.93_98del6
NM_005222.4
p.Q33_Q40del0
c.99_119del21
NM_005222.4
p.H75_A77del3
c.223_230del9