Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
NM_013403.3
p.V568I
c.1702G>A
NM_013403.3
p.S698Splc
c.2093-5T>C
NM_013403.3
p.R18S
c.52C>A
NM_013403.3
p.P28S
c.82C>T
NM_013403.3
p.S53N
c.158G>A
NM_013403.3
p.E80K
c.238G>A
NM_013403.3
p.E89*
c.265G>T
NM_013403.3
p.Q94_A95Splc
c.282+1911T>G
NM_013403.3
p.Q101E
c.301C>G
NM_013403.3
p.L110V
c.328C>G
NM_013403.3
p.M120I
c.360G>T
NM_013403.3
p.M120I
c.360G>C