Papers
RefSeq ID
Protein change
DNA change
1–12 of 183 variants
NM_000975.5
p.L20_C21delFs
c.60_61delCT
NM_000975.5
p.F105delFs
c.314_315delTT
NM_000975.5
p.R32_L33delFs
c.94_97del4
NM_000975.5
p.M1V
c.1A>G
NM_000975.5
p.M1I
c.3G>A
NM_000975.5
p.R54insFs
c.160_161insA
NM_000975.5
p.R75Q
c.224G>A
NM_000975.5
p.V132_V133Splc
c.396+1G>T
NM_000975.5
p.M1T
c.2T>C
NM_000975.5
p.L20H
c.59T>A
NM_000975.5
p.R32delFs
c.95_96delGA
NM_000975.5
p.E66_I68delFs
c.198_202del5