Papers
RefSeq ID
Protein change
DNA change
1–12 of 81 variants
NM_020346.3
p.I8T
c.23T>C
NM_020346.3
p.L31L
c.93G>A
NM_020346.3
p.A224V
c.671C>T
NM_020346.3
p.S449L
c.1346C>T
NM_020346.3
p.R29Splc
c.86+2T>C
NM_020346.3
p.E39K
c.115G>A
NM_020346.3
p.T40S
c.118A>T
NM_020346.3
p.G47R
c.139G>A
NM_020346.3
p.G47R
c.139G>C
NM_020346.3
p.A57V
c.170C>T
NM_020346.3
p.C60C
c.180C>T
NM_020346.3
p.D61V
c.182A>T