Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_018622.7
p.S77N
c.230G>A
NM_018622.7
p.V262L
c.784G>T
NM_018622.7
p.V262L
c.784G>C
NM_018622.7
p.Q49H
c.147A>T
NM_018622.7
p.C111S
c.331T>A
NM_018622.7
p.H216H
c.648T>C
NM_018622.7
p.S277A
c.829T>G
NM_018622.7
p.R4*
c.10C>T
NM_018622.7
p.V32I
c.94G>A
NM_018622.7
p.R41R
c.123C>T
NM_018622.7
p.R42Splc
c.126-157G>A
NM_018622.7
p.R42Splc
c.126-35T>C