Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_001375670.1
p.E202K
c.604G>A
NM_001375670.1
p.R373C
c.1117C>T
NM_001375670.1
p.R132*
c.394C>T
NM_001375670.1
p.P450S
c.1348C>T
NM_001375670.1
p.Y491C
c.1472A>G
NM_001375670.1
p.E10Q
c.28G>C
NM_001375670.1
p.P13fs
c.37_38fs
NM_001375670.1
p.F20L
c.58T>C
NM_001375670.1
p.F20L
c.60C>A
NM_001375670.1
p.F20L
c.60C>G
NM_001375670.1
p.F20F
c.60C>T
NM_001375670.1
p.R28W
c.82C>T