Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_001098787.2
p.M1I
c.3G>T
NM_001098787.2
p.M1I
c.3G>C
NM_001098787.2
p.M1I
c.3G>A
NM_001098787.2
p.A7Splc
c.19+4A>C
NM_001098787.2
p.L17ins7
c.49_50ins21
NM_001098787.2
p.R19Q
c.56G>A
NM_001098787.2
p.S27I
c.80G>T
NM_001098787.2
p.L40L
c.118C>T
NM_001098787.2
p.R44S
c.132G>T
NM_001098787.2
p.R44S
c.132G>C
NM_001098787.2
p.L53V
c.157C>G
NM_001098787.2
p.M56_D57Splc
c.168+1G>A