Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
NM_004685.5
p.I319V
c.955A>G
NM_004685.5
p.A599T
c.1795G>A
NM_004685.5
p.D90N
c.268G>A
NM_004685.5
p.A414D
c.1241C>A
NM_004685.5
p.V12_L14del0
c.36_41del6
NM_004685.5
p.D40N
c.118G>A
NM_004685.5
p.L36_S41delFs
c.108_121del14
NM_004685.5
p.H42Y
c.124C>T
NM_004685.5
p.L36_S41del6
c.106_122del18
NM_004685.5
p.V69L
c.205G>T
NM_004685.5
p.V69L
c.205G>C
NM_004685.5
p.N93D
c.277A>G