Papers
RefSeq ID
Protein change
DNA change
1–12 of 69 variants
NM_025248.3
p.R371W
c.1111C>T
NM_025248.3
p.L580L
c.1740C>T
NM_025248.3
p.E912D
c.2736G>T
NM_025248.3
p.E912D
c.2736G>C
NM_025248.3
p.E10Fs
c.28delinsCAGATCCGGFs
NM_025248.3
p.P15delFs
c.45delG
NM_025248.3
p.M16fs
c.46_47fs
NM_025248.3
p.R78S
c.232C>A
NM_025248.3
p.H94R
c.281A>G
NM_025248.3
p.S119S
c.357A>T
NM_025248.3
p.Q123P
c.368A>C
NM_025248.3
p.Y138S
c.413A>C