Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_198181.4
p.T59I
c.176C>T
NM_198181.4
p.R230C
c.688C>T
NM_198181.4
p.R6H
c.17G>A
NM_198181.4
p.Q131*
c.391C>T
NM_198181.4
p.Q151E
c.451C>G
NM_198181.4
p.M159V
c.475A>G
NM_198181.4
p.Q289*
c.865C>T
NM_198181.4
p.D99N
c.295G>A
NM_198181.4
p.L115_V116Splc
c.346-3C>T
NM_198181.4
p.C223R
c.667T>C
NM_198181.4
p.G244R
c.730G>C
NM_198181.4
p.E257K
c.769G>A