Papers
RefSeq ID
Protein change
DNA change
1–12 of 248 variants
NM_001200049.3
p.Q7*
c.19C>T
NM_001200049.3
p.T386M
c.1157C>T
NM_001200049.3
p.T422M
c.1265C>T
NM_001200049.3
p.R484S
c.1450C>A
NM_001200049.3
p.V559M
c.1675G>A
NM_001200049.3
p.R1952C
c.5854C>T
NM_001200049.3
p.E2429Splc
c.7286-2A>G
NM_001200049.3
p.R2550*
c.7648C>T
NM_001200049.3
p.R2657C
c.7969C>T
NM_001200049.3
p.S264N
c.791G>A
NM_001200049.3
p.A433V
c.1298C>T
NM_001200049.3
p.G906E
c.2717G>A