Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_016485.5
p.A5V
c.14C>T
NM_016485.5
p.Y36F
c.107A>T
NM_016485.5
p.C38S
c.112T>A
NM_016485.5
p.C38S
c.113G>C
NM_016485.5
p.L40F
c.120A>T
NM_016485.5
p.M64L
c.190A>T
NM_016485.5
p.G75D
c.224G>A
NM_016485.5
p.I80I
c.240T>A
NM_016485.5
p.E91K
c.271G>A
NM_016485.5
p.E137_N138Splc
c.412-4T>C
NM_016485.5
p.P166R
c.497C>G
NM_016485.5
p.Q192R
c.575A>G