Papers
RefSeq ID
Protein change
DNA change
1–12 of 750 variants
NM_002417.5
p.N104S
c.311A>G
NM_002417.5
p.T4T
c.12G>C
NM_002417.5
p.H84Y
c.250C>T
NM_002417.5
p.R2649H
c.7946G>A
NM_002417.5
p.G1042S
c.3124G>A
NM_002417.5
p.T2508S
c.7522A>T
NM_002417.5
p.T2508S
c.7523C>G
NM_002417.5
p.T2720P
c.8158A>C
NM_002417.5
p.R2786Q
c.8357G>A
NM_002417.5
p.T2868S
c.8602A>T
NM_002417.5
p.T2868S
c.8603C>G
NM_002417.5
p.E497D
c.1491G>C