Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
NM_004390.5
p.L162_S163delFs
c.485_488del4
NM_004390.5
p.C26S
c.76T>A
NM_004390.5
p.C26S
c.77G>C
NM_004390.5
p.K160R
c.479A>G
NM_004390.5
p.L162fs
c.484_485fs
NM_004390.5
p.I233_Y234Splc
c.699+1G>A
NM_004390.5
p.G11R
c.31G>C
NM_004390.5
p.G11R
c.31G>A
NM_004390.5
p.G139S
c.415G>A
NM_004390.5
p.V249G
c.746T>G
NM_004390.5
p.M1T
c.2T>C
NM_004390.5
p.A3Fs
c.7delinsTGGTCFs