Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
NM_153213.5
p.G163R
c.487G>C
NM_153213.5
p.E238Q
c.712G>C
NM_153213.5
p.P460L
c.1379C>T
NM_153213.5
p.I711S
c.2132T>G
NM_153213.5
p.W747R
c.2239T>C
NM_153213.5
p.W747R
c.2239T>A
NM_153213.5
p.E379G
c.1136A>G
NM_153213.5
p.R633Q
c.1898G>A
NM_153213.5
p.G751S
c.2251G>A
NM_153213.5
p.K788T
c.2363A>C
NM_153213.5
p.P6fs
c.16_17fs
NM_153213.5
p.P6delFs
c.17delG