Papers
RefSeq ID
Protein change
DNA change
1–12 of 1041 variants
NM_000383.4
p.R257*
c.769C>T
NM_000383.4
p.R139*
c.415C>T
NM_000383.4
p.Y85C
c.254A>G
NM_000383.4
p.L323_L327delFs
c.967_979del13
NM_000383.4
p.G228W
c.682G>T
NM_000383.4
p.C311Y
c.932G>A
NM_000383.4
p.W78R
c.232T>A
NM_000383.4
p.R203*
c.607C>T
NM_000383.4
p.W78R
c.232T>C
NM_000383.4
p.T16M
c.47C>T
NM_000383.4
p.S278R
c.834C>G
NM_000383.4
p.S278R
c.832A>C