Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_030769.3
p.N45D
c.133A>G
NM_030769.3
p.R63C
c.187C>T
NM_030769.3
p.R64H
c.191G>A
NM_030769.3
p.E156A
c.467A>C
NM_030769.3
p.E202_Q203Splc
c.606+1G>A
NM_030769.3
p.M1delFs
c.2delT
NM_030769.3
p.A2delins
c.5delinsATGG
NM_030769.3
p.T17M
c.50C>T
NM_030769.3
p.T17T
c.51G>A
NM_030769.3
p.T20N
c.59C>A
NM_030769.3
p.G31delFs
c.92delG
NM_030769.3
p.G31fs
c.91_92fs