Papers
RefSeq ID
Protein change
DNA change
1–12 of 125 variants
NM_030943.4
p.M69_L70Splc
c.208-2A>G
NM_030943.4
p.T41I
c.122C>T
NM_030943.4
p.C234F
c.701G>T
NM_030943.4
p.G5delFs
c.14delG
NM_030943.4
p.A15Splc
c.43+1G>T
NM_030943.4
p.R390Splc
c.1170-6C>T
NM_030943.4
p.G5fs
c.13_14fs
NM_030943.4
p.A15Splc
c.44-3C>G
NM_030943.4
p.M69K
c.206T>A
NM_030943.4
p.W221*
c.663G>A
NM_030943.4
p.Q248*
c.742C>T
NM_030943.4
p.G254E
c.761G>A