Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
NM_001145312.3
p.P166L
c.497C>T
NM_001145312.3
p.E383D
c.1149A>T
NM_001145312.3
p.E383D
c.1149A>C
NM_001145312.3
p.R478Q
c.1433G>A
NM_001145312.3
p.G14G
c.42T>A
NM_001145312.3
p.G16Splc
c.47-44A>G
NM_001145312.3
p.S32A
c.94T>G
NM_001145312.3
p.L37Q
c.110T>A
NM_001145312.3
p.W38*
c.113G>A
NM_001145312.3
p.W38*
c.114G>A
NM_001145312.3
p.F50S
c.149T>C
NM_001145312.3
p.A73V
c.218C>T