Papers
RefSeq ID
Protein change
DNA change
1–12 of 123 variants
NM_007175.8
p.D300V
c.899A>T
NM_007175.8
p.S129T
c.386G>C
NM_007175.8
p.Q63K
c.187C>A
NM_007175.8
p.V100Splc
c.298+1G>T
NM_007175.8
p.V136G
c.407T>G
NM_007175.8
p.Q166_A167Splc
c.499-1G>T
NM_007175.8
p.V168M
c.502G>A
NM_007175.8
p.R180C
c.538C>T
NM_007175.8
p.A151V
c.452C>T
NM_007175.8
p.T65I
c.194C>T
NM_007175.8
p.N125S
c.374A>G
NM_007175.8
p.A271insFs
c.812_813insAC