Papers
RefSeq ID
Protein change
DNA change
1–12 of 210 variants
NM_004350.3
p.R122C
c.364C>T
NM_004350.3
p.H82N
c.244C>A
NM_004350.3
p.G145E
c.434G>A
NM_004350.3
p.K148R
c.443A>G
NM_004350.3
p.R178Q
c.533G>A
NM_004350.3
p.R355H
c.1064G>A
NM_004350.3
p.M1I
c.3G>C
NM_004350.3
p.R12H
c.35G>A
NM_004350.3
p.P15_P16insFs
c.45_46insT
NM_004350.3
p.P18delFs
c.53delG
NM_004350.3
p.S37C
c.109A>T
NM_004350.3
p.A41del1
c.121_123delGGC