Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
NM_152512.4
p.P369fs
c.1105_1106fs
NM_152512.4
p.E412K
c.1234G>A
NM_152512.4
p.V71M
c.211G>A
NM_152512.4
p.H92R
c.275A>G
NM_152512.4
p.I109T
c.326T>C
NM_152512.4
p.A112T
c.334G>A
NM_152512.4
p.R146W
c.436C>T
NM_152512.4
p.I155T
c.464T>C
NM_152512.4
p.K159R
c.476A>G
NM_152512.4
p.K184*
c.550A>T
NM_152512.4
p.G204V
c.611G>T
NM_152512.4
p.D278Splc
c.833-3171A>T