Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_005949.4
p.M1R
c.2T>G
NM_005949.4
p.C5F
c.14G>T
NM_005949.4
p.A8S
c.22G>T
NM_005949.4
p.A9V
c.26C>T
NM_005949.4
p.G10R
c.28G>C
NM_005949.4
p.G10Splc
c.28+2T>A
NM_005949.4
p.G17A
c.50G>C
NM_005949.4
p.K20T
c.59A>C
NM_005949.4
p.C21insFs
c.62_63insA
NM_005949.4
p.C24R
c.70T>C
NM_005949.4
p.K31K
c.93G>A
NM_005949.4
p.S35F
c.104C>T