Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
NM_153210.5
p.R292W
c.874C>T
NM_153210.5
p.H660N
c.1978C>A
NM_153210.5
p.H668R
c.2003A>G
NM_153210.5
p.D678N
c.2032G>A
NM_153210.5
p.G739R
c.2215G>A
NM_153210.5
p.G739R
c.2215G>C
NM_153210.5
p.P18S
c.52C>T
NM_153210.5
p.G36A
c.107G>C
NM_153210.5
p.R47_P48insFs
c.141_142ins19
NM_153210.5
p.P48fs
c.142_143fs
NM_153210.5
p.P75P
c.225C>G
NM_153210.5
p.P81L
c.242C>T