Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
NM_138376.3
p.Y210C
c.629A>G
NM_138376.3
p.Q17_E18Splc
c.51+1G>A
NM_138376.3
p.Q212fs
c.634_635fs
NM_138376.3
p.Q212delFs
c.634delG
NM_138376.3
p.A231V
c.692C>T
NM_138376.3
p.Y240*
c.720T>G
NM_138376.3
p.Y240*
c.720T>A
NM_138376.3
p.R263*
c.787C>T
NM_138376.3
p.R395*
c.1183C>T
NM_138376.3
p.Q47R
c.140A>G
NM_138376.3
p.W106*
c.317G>A
NM_138376.3
p.W106*
c.318G>A