Papers
RefSeq ID
Protein change
DNA change
1–12 of 91 variants
NM_173538.3
p.K383E
c.1147A>G
NM_173538.3
p.V407I
c.1219G>A
NM_173538.3
p.V269G
c.806T>G
NM_173538.3
p.P344S
c.1030C>T
NM_173538.3
p.L396H
c.1187T>A
NM_173538.3
p.L396P
c.1187T>C
NM_173538.3
p.L396R
c.1187T>G
NM_173538.3
p.H13D
c.37C>G
NM_173538.3
p.I17V
c.49A>G
NM_173538.3
p.P22delFs
c.65delC
NM_173538.3
p.N30insFs
c.89_90ins5
NM_173538.3
p.L31fs
c.91_92fs