Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_005330.4
p.R31Splc
c.93-6T>C
NM_005330.4
p.R31Splc
c.93-1G>T
NM_005330.4
p.R31Splc
c.93-1G>A
NM_005330.4
p.M1R
c.2T>G
NM_005330.4
p.V12A
c.35T>C
NM_005330.4
p.E27K
c.79G>A
NM_005330.4
p.K105_L106Splc
c.316-1G>T
NM_005330.4
p.M1K
c.2T>A
NM_005330.4
p.H3L
c.8A>T
NM_005330.4
p.A6G
c.17C>G
NM_005330.4
p.E8K
c.22G>A
NM_005330.4
p.K9M
c.26A>T