Papers
RefSeq ID
Protein change
DNA change
1–12 of 139 variants
NM_001127198.5
p.W125R
c.373T>C
NM_001127198.5
p.W125R
c.373T>A
NM_001127198.5
p.Y248*
c.744C>A
NM_001127198.5
p.L153F
c.457C>T
NM_001127198.5
p.R94*
c.280C>T
NM_001127198.5
p.Y248*
c.744C>G
NM_001127198.5
p.A297_G298Splc
c.892-2A>T
NM_001127198.5
p.E576*
c.1726G>T
NM_001127198.5
p.Q74*
c.220C>T
NM_001127198.5
p.G191D
c.572G>A
NM_001127198.5
p.L323delFs
c.968delA
NM_001127198.5
p.Y370*
c.1110C>G