Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
NM_004130.4
p.D102H
c.304G>C
NM_004130.4
p.R48Splc
c.143+3G>C
NM_004130.4
p.G162delFs
c.484delG
NM_004130.4
p.T83M
c.248C>T
NM_004130.4
p.D163fs
c.487_488fs
NM_004130.4
p.D3fs
c.7_8fs
NM_004130.4
p.M1K
c.2T>A
NM_004130.4
p.A16P
c.46G>C
NM_004130.4
p.Y195F
c.584A>T
NM_004130.4
p.H212Y
c.634C>T
NM_004130.4
p.R216*
c.646C>T
NM_004130.4
p.R324*
c.970C>T