Papers
RefSeq ID
Protein change
DNA change
1–12 of 55 variants
NM_001042450.4
p.N96I
c.287A>T
NM_001042450.4
p.G471E
c.1412G>A
NM_001042450.4
p.V118I
c.352G>A
NM_001042450.4
p.R401H
c.1202G>A
NM_001042450.4
p.F169delFs
c.505_506delTT
NM_001042450.4
p.E225delFs
c.673_674delGA
NM_001042450.4
p.E490Q
c.1468G>C
NM_001042450.4
p.P505_A506del2
c.1513_1517del6
NM_001042450.4
p.A522V
c.1565C>T
NM_001042450.4
p.D8E
c.24C>A
NM_001042450.4
p.D8E
c.24C>G
NM_001042450.4
p.D20E
c.60C>A