Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
NM_032785.4
p.R215Q
c.644G>A
NM_032785.4
p.R57W
c.169C>T
NM_032785.4
p.E233Q
c.697G>C
NM_032785.4
p.M284T
c.851T>C
NM_032785.4
p.A377T
c.1129G>A
NM_032785.4
p.R428Q
c.1283G>A
NM_032785.4
p.K467N
c.1401A>T
NM_032785.4
p.K467N
c.1401A>C
NM_032785.4
p.M1T
c.2T>C
NM_032785.4
p.G12Splc
c.34+64C>T
NM_032785.4
p.G12Splc
c.34+133C>T
NM_032785.4
p.G12Splc
c.34+28347G>A