Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_004719.3
p.L75V
c.223C>G
Surrounding Variants
NM_004719.3
p.F89_K90insFs
c.267_268insC
NM_004719.3
p.L94W
c.281T>G
NM_004719.3
p.E95Q
c.283G>C
NM_004719.3
p.E95K
c.283G>A
NM_004719.3
p.K99_V100Splc
c.297+1G>A
NM_004719.3
p.D111E
c.333C>G
NM_004719.3
p.D111E
c.333C>A
NM_004719.3
p.K129E
c.385A>G
NM_004719.3
p.T66_A72delFs
c.198_214del17