Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_001256114.2
p.P325L
c.974C>T
NM_001256114.2
p.E29K
c.85G>A
NM_001256114.2
p.A41V
c.122C>T
NM_001256114.2
p.C5_A12delFs
c.15_36del22
NM_001256114.2
p.R7Q
c.20G>A
NM_001256114.2
p.A10A
c.30C>T
NM_001256114.2
p.R15S
c.45G>C
NM_001256114.2
p.R17H
c.50G>A
NM_001256114.2
p.R17R
c.51C>A
NM_001256114.2
p.A20A
c.60C>T
NM_001256114.2
p.P28T
c.82C>A
NM_001256114.2
p.S39F
c.116C>T