Papers
RefSeq ID
Protein change
DNA change
1–12 of 511 variants
NM_138691.3
p.R34*
c.100C>T
NM_138691.3
p.D572N
c.1714G>A
NM_138691.3
p.M418K
c.1253T>A
NM_138691.3
p.R389*
c.1165C>T
NM_138691.3
p.R512*
c.1534C>T
NM_138691.3
p.D572H
c.1714G>C
NM_138691.3
p.R445H
c.1334G>A
NM_138691.3
p.A79Splc
c.236+1G>A
NM_138691.3
p.R445C
c.1333C>T
NM_138691.3
p.R604*
c.1810C>T
NM_138691.3
p.G417R
c.1249G>A
NM_138691.3
p.G417R
c.1249G>C