Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
NM_032448.3
p.D406ins12
c.1217_1218ins36
NM_032448.3
p.D370Y
c.1108G>T
NM_032448.3
p.P414L
c.1241C>T
NM_032448.3
p.S443P
c.1327T>C
NM_032448.3
p.S455P
c.1363T>C
NM_032448.3
p.C511G
c.1531T>G
NM_032448.3
p.I17R
c.50T>G
NM_032448.3
p.P55S
c.163C>T
NM_032448.3
p.A80T
c.238G>A
NM_032448.3
p.D90A
c.269A>C
NM_032448.3
p.K120*
c.358A>T
NM_032448.3
p.V139_F143delFs
c.417_429del13