Papers
RefSeq ID
Protein change
DNA change
1–12 of 124 variants
NM_001144758.3
p.L714P
c.2141T>C
NM_001144758.3
p.R512W
c.1534C>T
NM_001144758.3
p.E865E
c.2595A>G
NM_001144758.3
p.R868H
c.2603G>A
NM_001144758.3
p.R1020C
c.3058C>T
NM_001144758.3
p.T17S
c.49A>T
NM_001144758.3
p.K31R
c.92A>G
NM_001144758.3
p.K39N
c.117A>T
NM_001144758.3
p.P40S
c.118C>T
NM_001144758.3
p.S44I
c.131G>T
NM_001144758.3
p.S44S
c.132C>T
NM_001144758.3
p.R49*
c.145C>T