Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
NM_207343.4
p.R185Q
c.554G>A
NM_207343.4
p.P455S
c.1363C>T
NM_207343.4
p.N510N
c.1530T>C
NM_207343.4
p.P16S
c.46C>T
NM_207343.4
p.S47*
c.140C>A
NM_207343.4
p.S101P
c.301T>C
NM_207343.4
p.V112delFs
c.335delT
NM_207343.4
p.E126*
c.376G>T
NM_207343.4
p.G180del1
c.538_540delGGG
NM_207343.4
p.S194N
c.581G>A
NM_207343.4
p.L226_D227Splc
c.678+168A>C
NM_207343.4
p.M230I
c.690G>A