Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_001134462.2
p.R5T
c.14G>C
NM_001134462.2
p.P2A
c.4C>G
NM_001134462.2
p.P10Q
c.29C>A
NM_001134462.2
p.S15*
c.44C>A
NM_001134462.2
p.P36L
c.107C>T
NM_001134462.2
p.E46Q
c.136G>C
NM_001134462.2
p.L55Q
c.164T>A
NM_001134462.2
p.P63A
c.187C>G
NM_001134462.2
p.A82T
c.244G>A
NM_001134462.2
p.E130Q
c.388G>C
NM_001134462.2
p.D142Y
c.424G>T
NM_001134462.2
p.L171S
c.512T>C