Papers
RefSeq ID
Protein change
DNA change
1–12 of 307 variants
NM_002664.3
p.R340K
c.1019G>A
NM_002664.3
p.K97N
c.291G>C
NM_002664.3
p.K97N
c.291G>T
NM_002664.3
p.A215V
c.644C>T
NM_002664.3
p.R5W
c.13C>T
NM_002664.3
p.K4N
c.12G>C
NM_002664.3
p.K14_G15Splc
c.42+1G>C
NM_002664.3
p.K14_G15Splc
c.43-2A>G
NM_002664.3
p.D41A
c.122A>C
NM_002664.3
p.W92R
c.274T>A
NM_002664.3
p.G127Splc
c.380+1G>A
NM_002664.3
p.V161I
c.481G>A