Papers
RefSeq ID
Protein change
DNA change
1–12 of 77 variants
NM_153603.4
p.E57Splc
c.169+4A>C
NM_153603.4
p.E57Splc
c.170-7A>G
NM_153603.4
p.T605M
c.1814C>T
NM_153603.4
p.A19_A20insFs
c.57_58insAT
NM_153603.4
p.M690V
c.2068A>G
NM_153603.4
p.R71C
c.211C>T
NM_153603.4
p.Q145_D146Splc
c.435+1G>A
NM_153603.4
p.K229M
c.686A>T
NM_153603.4
p.Y500C
c.1499A>G
NM_153603.4
p.A686T
c.2056G>A
NM_153603.4
p.D12H
c.34G>C
NM_153603.4
p.G31fs
c.91_92fs