Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_018219.3
p.E732*
c.2194G>T
NM_018219.3
p.P39R
c.116C>G
NM_018219.3
p.E97K
c.289G>A
NM_018219.3
p.Q614E
c.1840C>G
NM_018219.3
p.E618_E619del1
c.1854_1856delTCT
NM_018219.3
p.E619del1
c.1855_1856delCTC
NM_018219.3
p.L738R
c.2213T>G
NM_018219.3
p.M809I
c.2427G>T
NM_018219.3
p.M809I
c.2427G>C
NM_018219.3
p.M809I
c.2427G>A
NM_018219.3
p.M1K
c.2T>A
NM_018219.3
p.E10Q
c.28G>C