Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_001001710.3
p.L251delFs
c.751_752delAG
NM_001001710.3
p.L251fs
c.751_752fs
NM_001001710.3
p.Q41*
c.121C>T
NM_001001710.3
p.P186delFs
c.558delG
NM_001001710.3
p.Q249_F250Splc
c.747+2T>C
NM_001001710.3
p.P12L
c.35C>T
NM_001001710.3
p.V17I
c.49G>A
NM_001001710.3
p.P18S
c.52C>T
NM_001001710.3
p.R28C
c.82C>T
NM_001001710.3
p.P58S
c.172C>T
NM_001001710.3
p.K61Q
c.181A>C
NM_001001710.3
p.K61T
c.182A>C