Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_003415.3
p.I74F
c.220A>T
NM_003415.3
p.R860T
c.2579G>C
NM_003415.3
p.R828*
c.2482C>T
NM_003415.3
p.P14S
c.40C>T
NM_003415.3
p.W64*
c.191G>A
NM_003415.3
p.D99N
c.295G>A
NM_003415.3
p.M141L
c.421A>C
NM_003415.3
p.M141L
c.421A>T
NM_003415.3
p.L679F
c.2037G>C
NM_003415.3
p.L679F
c.2037G>T
NM_003415.3
p.F761S
c.2282T>C
NM_003415.3
p.E17A
c.50A>C