Papers
RefSeq ID
Protein change
DNA change
1–12 of 66 variants
NM_001035223.4
p.H162P
c.485A>C
NM_001035223.4
p.A164V
c.491C>T
NM_001035223.4
p.A131V
c.392C>T
NM_001035223.4
p.R344C
c.1030C>T
NM_001035223.4
p.Q610*
c.1828C>T
NM_001035223.4
p.R615C
c.1843C>T
NM_001035223.4
p.E2K
c.4G>A
NM_001035223.4
p.G44D
c.131G>A
NM_001035223.4
p.Q49_A50Splc
c.148-1G>A
NM_001035223.4
p.R62*
c.184C>T
NM_001035223.4
p.R62G
c.184C>G
NM_001035223.4
p.R73H
c.218G>A