Papers
RefSeq ID
Protein change
DNA change
1–12 of 127 variants
NM_006838.4
p.R395W
c.1183A>T
NM_006838.4
p.M1V
c.1A>G
NM_006838.4
p.P130S
c.388C>T
NM_006838.4
p.N214D
c.640A>G
NM_006838.4
p.E24K
c.70G>A
NM_006838.4
p.D57N
c.169G>A
NM_006838.4
p.R73*
c.217A>T
NM_006838.4
p.D87Splc
c.259+1G>A
NM_006838.4
p.D87Splc
c.260-1G>C
NM_006838.4
p.G90D
c.269G>A
NM_006838.4
p.D93E
c.279T>A
NM_006838.4
p.D93E
c.279T>G