Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
NM_001145210.3
p.E389Q
c.1165G>C
NM_001145210.3
p.E14_E15del1
c.42_44delTCC
NM_001145210.3
p.W42_H44del3
c.124_131del9
NM_001145210.3
p.G200V
c.599G>T
NM_001145210.3
p.E389fs
c.1165_1166fs
NM_001145210.3
p.I395M
c.1185A>G
NM_001145210.3
p.R5delFs
c.14_15delCC
NM_001145210.3
p.E15del1
c.43_44delTTC
NM_001145210.3
p.E14_E15del2
c.40_44del6
NM_001145210.3
p.R19W
c.55C>T
NM_001145210.3
p.R19G
c.55C>G
NM_001145210.3
p.R19P
c.56G>C