Papers
RefSeq ID
Protein change
DNA change
1–12 of 79 variants
NM_001004303.5
p.K400N
c.1200G>T
NM_001004303.5
p.K400N
c.1200G>C
NM_001004303.5
p.P270S
c.808C>T
NM_001004303.5
p.K366_P367Splc
c.1098+2T>A
NM_001004303.5
p.E474*
c.1420G>T
NM_001004303.5
p.E522K
c.1564G>A
NM_001004303.5
p.G3V
c.8G>T
NM_001004303.5
p.R13*
c.37C>T
NM_001004303.5
p.P22L
c.65C>T
NM_001004303.5
p.N51K
c.153T>G
NM_001004303.5
p.N51K
c.153T>A
NM_001004303.5
p.Q61L
c.182A>T