Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_001161834.3
p.P42S
c.124C>T
NM_001161834.3
p.F312V
c.934T>G
NM_001161834.3
p.T358I
c.1073C>T
NM_001161834.3
p.K243Splc
c.728+2T>C
NM_001161834.3
p.T268A
c.802A>G
NM_001161834.3
p.T332A
c.994A>G
NM_001161834.3
p.R410H
c.1229G>A
NM_001161834.3
p.D2_V3delFs
c.6_9del4
NM_001161834.3
p.I5S
c.14T>G
NM_001161834.3
p.Q6_P9del4
c.16_26del12
NM_001161834.3
p.S13insFs
c.37_38ins4
NM_001161834.3
p.I19insFs
c.56_57ins13