Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
NM_001367805.3
p.S916*
c.2747C>G
NM_001367805.3
p.K188Splc
c.564-10C>T
NM_001367805.3
p.P34T
c.100C>A
NM_001367805.3
p.T51I
c.152C>T
NM_001367805.3
p.E166A
c.497A>C
NM_001367805.3
p.V201A
c.602T>C
NM_001367805.3
p.S405P
c.1213T>C
NM_001367805.3
p.L515L
c.1543T>C
NM_138555.4
p.P916R
c.2747C>G
NM_001367805.3
p.A4A
c.12G>C
NM_001367805.3
p.K15R
c.44A>G
NM_001367805.3
p.D24H
c.70G>C