Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_018431.5
p.E61D
c.183A>T
NM_018431.5
p.A183T
c.547G>A
NM_018431.5
p.F5_D7delFs
c.13_20del8
NM_018431.5
p.Y13_R20del8
c.37_59del24
NM_018431.5
p.G22R
c.64G>A
NM_018431.5
p.G22R
c.64G>C
NM_018431.5
p.G22_I23Splc
c.66+137G>T
NM_018431.5
p.R26Q
c.77G>A
NM_018431.5
p.C27F
c.80G>T
NM_018431.5
p.E43E
c.129G>A
NM_018431.5
p.K58*
c.172A>T
NM_018431.5
p.R70*
c.208C>T