Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
NM_012106.4
p.Y69_I70Splc
c.207+1G>A
NM_012106.4
p.M45R
c.134T>G
NM_012106.4
p.D34Splc
c.101-1G>C
NM_012106.4
p.Y69_I70Splc
c.207+1G>T
NM_012106.4
p.L11_S12delFs
c.33_36del4
NM_012106.4
p.A130_E131Splc
c.390+5G>A
NM_012106.4
p.L154delFs
c.462delG
NM_012106.4
p.S8delFs
c.22_23delAG
NM_012106.4
p.S8fs
c.22_23fs
NM_012106.4
p.D35fs
c.103_104fs
NM_012106.4
p.E87K
c.259G>A
NM_012106.4
p.H99fs
c.295_296fs