Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_014400.3
p.L23_L24del1
c.69_71delAGC
NM_014400.3
p.L24ins1
c.71_72insGCT
NM_014400.3
p.A30V
c.89C>T
NM_014400.3
p.D41E
c.123T>G
NM_014400.3
p.D41E
c.123T>A
NM_014400.3
p.I71_H72insGCT
c.211_215ins9
NM_014400.3
p.S84S
c.252G>T
NM_014400.3
p.D174N
c.520G>A
NM_014400.3
p.R226H
c.677G>A
NM_014400.3
p.P246A
c.736C>G
NM_014400.3
p.S251*
c.752C>G
NM_014400.3
p.S251*
c.752C>A