Papers
RefSeq ID
Protein change
DNA change
1–12 of 122 variants
NM_004792.3
p.I406L
c.1216A>C
NM_004792.3
p.I406L
c.1216A>T
NM_004792.3
p.D445E
c.1335T>A
NM_004792.3
p.D445E
c.1335T>G
NM_004792.3
p.N699D
c.2095A>G
NM_004792.3
p.I126Splc
c.377+2T>C
NM_004792.3
p.R248Q
c.743G>A
NM_004792.3
p.V401_E403delFs
c.1202_1208del7
NM_004792.3
p.D446G
c.1337A>G
NM_004792.3
p.M1T
c.2T>C
NM_004792.3
p.P57P
c.171A>G
NM_004792.3
p.D78E
c.234C>A