Papers
RefSeq ID
Protein change
DNA change
1–12 of 145 variants
NM_002975.3
p.K49_H50Splc
c.147+1G>C
NM_002975.3
p.K49_H50Splc
c.148-2A>G
NM_002975.3
p.H130Y
c.388C>T
NM_002975.3
p.G184_H185insFs
c.552_553ins4
NM_002975.3
p.N235T
c.704A>C
NM_002975.3
p.F253S
c.758T>C
NM_002975.3
p.W5L
c.14G>T
NM_002975.3
p.L10F
c.30G>C
NM_002975.3
p.L10F
c.30G>T
NM_002975.3
p.G24R
c.70G>A
NM_002975.3
p.G35A
c.104G>C
NM_002975.3
p.L112Splc
c.334+1G>A