Papers
RefSeq ID
Protein change
DNA change
1–12 of 86 variants
NM_018119.4
p.T275M
c.824C>T
NM_018119.4
p.C85S
c.253T>A
NM_018119.4
p.C85S
c.254G>C
NM_018119.4
p.D40H
c.118G>C
NM_018119.4
p.E510*
c.1528G>T
NM_018119.4
p.P594delFs
c.1782delC
NM_018119.4
p.M1K
c.2T>A
NM_018119.4
p.A2delFs
c.5_6delCC
NM_018119.4
p.A2fs
c.4_5fs
NM_018119.4
p.A2A
c.6C>T
NM_018119.4
p.E5_D6del2
c.13_17del6
NM_018119.4
p.D6_D7del1
c.18_20delTGA