Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_001201325.2
p.R8*
c.22C>T
NM_001201325.2
p.R134W
c.400C>T
NM_001201325.2
p.S334C
c.1001C>G
NM_001201325.2
p.P376L
c.1127C>T
NM_001201325.2
p.S3P
c.7T>C
NM_001201325.2
p.T4I
c.11C>T
NM_001201325.2
p.P7S
c.19C>T
NM_001201325.2
p.E9K
c.25G>A
NM_001201325.2
p.Q18*
c.52C>T
NM_001201325.2
p.Y20F
c.59A>T
NM_001201325.2
p.L24P
c.71T>C
NM_001201325.2
p.L24Q
c.71T>A