Papers
RefSeq ID
Protein change
DNA change
NM_001315494.2
p.R46*
c.136C>T
NM_001315494.2
p.C16R
c.46T>C
NM_001315494.2
p.L19Q
c.56T>A
NM_001315494.2
p.R26H
c.77G>A
NM_001315494.2
p.L36*
c.107T>A
NM_001315494.2
p.M45_R46delFs
c.135_136delGC
NM_001315494.2
p.R46Q
c.137G>A
NM_001315494.2
p.V71M
c.211G>A
NM_001315494.2
p.*85W
c.255A>G