Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_004593.3
p.S50delFs
c.149delG
NM_004593.3
p.S81*
c.242C>G
NM_004593.3
p.I149del1
c.445_446delAAT
NM_004593.3
p.M1L
c.1A>T
NM_004593.3
p.M1L
c.1A>C
NM_004593.3
p.G5D
c.14G>A
NM_004593.3
p.E11*
c.31G>T
NM_004593.3
p.R12W
c.34C>T
NM_004593.3
p.R12_E13Splc
c.36+2849T>G
NM_004593.3
p.E13fs
c.37_38fs
NM_004593.3
p.R15H
c.44G>A
NM_004593.3
p.S18F
c.53C>T