Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_153346.5
p.F154L
c.460T>C
NM_153346.5
p.F154L
c.462T>G
NM_153346.5
p.F154L
c.462T>A
NM_153346.5
p.D9Splc
c.25+24G>T
NM_153346.5
p.H72N
c.214C>A
NM_153346.5
p.G80Splc
c.239-19C>A
NM_153346.5
p.H94L
c.281A>T
NM_153346.5
p.G129V
c.386G>T
NM_153346.5
p.A180D
c.539C>A
NM_153346.5
p.A193T
c.577G>A
NM_153346.5
p.E196K
c.586G>A
NM_153346.5
p.Q198E
c.592C>G