Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
NM_000996.4
p.L28del1
c.82_83delCTT
NM_000996.4
p.V33I
c.97G>A
NM_000996.4
p.M1V
c.1A>G
NM_000996.4
p.Y42C
c.125A>G
NM_000996.4
p.R102*
c.304C>T
NM_000996.4
p.M1T
c.2T>C
NM_000996.4
p.M1I
c.3G>A
NM_000996.4
p.Q21insFs
c.62dupA
NM_000996.4
p.N55Splc
c.164+5G>A
NM_000996.4
p.R76W
c.226C>T
NM_000996.4
p.V84D
c.251T>A
NM_000996.4
p.M1_S2insFs
c.3_4insA