Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_006176.3
p.T5_E6Splc
c.15+2596C>G
NM_006176.3
p.T5_E6Splc
c.16-2689T>A
NM_006176.3
p.T5_E6Splc
c.16-2571A>C
NM_006176.3
p.T5_E6Splc
c.16-2566A>G
NM_006176.3
p.E6insFs
c.17_18insG
NM_006176.3
p.D18V
c.53A>T
NM_006176.3
p.P24L
c.71C>T
NM_006176.3
p.Q34H
c.102G>C
NM_006176.3
p.Q34H
c.102G>T
NM_006176.3
p.F37S
c.110T>C
NM_006176.3
p.R38Q
c.113G>A
NM_006176.3
p.R53W
c.157C>T