Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_003290.3
p.R69*
c.205C>T
NM_001145160.2
p.R182C
c.544C>T
NM_001145160.2
p.A183V
c.548C>T
NM_003290.3
p.A147V
c.440C>T
NM_003290.3
p.E180G
c.539A>G
NM_003290.3
p.E244D
c.732A>C
NM_003290.3
p.E244D
c.732A>T
NM_003290.3
p.M1K
c.2T>A
NM_003290.3
p.M1_A2insFs
c.3_4insA
NM_003290.3
p.L7L
c.19C>T
NM_003290.3
p.Q18*
c.52C>T
NM_003290.3
p.Q20delFs
c.58_59delCA