Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_016065.4
p.R111*
c.331C>T
NM_016065.4
p.R20H
c.59G>A
NM_016065.4
p.T130R
c.389C>G
NM_016065.4
p.M1K
c.2T>A
NM_016065.4
p.T5Splc
c.13+2T>C
NM_016065.4
p.Y12H
c.34T>C
NM_016065.4
p.R13H
c.38G>A
NM_016065.4
p.C26S
c.76T>A
NM_016065.4
p.C26S
c.77G>C
NM_016065.4
p.Y54C
c.161A>G
NM_016065.4
p.L51_Y54del0
c.151_162del12
NM_016065.4
p.L68P
c.203T>C