Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_006982.3
p.Q177_V178Splc
c.531+1G>A
NM_006982.3
p.R64C
c.190C>T
NM_006982.3
p.R64L
c.191G>T
NM_006982.3
p.L165F
c.493C>T
NM_006982.3
p.Q181K
c.541C>A
NM_006982.3
p.H61R
c.182A>G
NM_006982.3
p.T140I
c.419C>T
NM_006982.3
p.Q220_I221Splc
c.661-1G>C
NM_006982.3
p.I221V
c.661A>G
NM_006982.3
p.P14_N17Fs
c.41_51delinsTFs
NM_006982.3
p.K16K
c.48A>G
NM_006982.3
p.N17delins
c.51delinsT