Papers
RefSeq ID
Protein change
DNA change
1–12 of 97 variants
NM_003505.2
p.R353Q
c.1058G>A
NM_003505.2
p.R517H
c.1550G>A
NM_003505.2
p.R536H
c.1607G>A
NM_003505.2
p.A2insFs
c.6dupT
NM_003505.2
p.P7L
c.20C>T
NM_003505.2
p.A12D
c.35C>A
NM_003505.2
p.C22Y
c.65G>A
NM_003505.2
p.A23S
c.67G>T
NM_003505.2
p.G34R
c.100G>C
NM_003505.2
p.G34V
c.101G>T
NM_003505.2
p.G36E
c.107G>A
NM_003505.2
p.P45L
c.134C>T