Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
NM_017915.5
p.T126fs
c.376_377fs
NM_017915.5
p.N160H
c.478A>C
NM_017915.5
p.D11Y
c.31G>T
NM_017915.5
p.A46V
c.137C>T
NM_017915.5
p.A46A
c.138G>A
NM_017915.5
p.Q51_H52Splc
c.154-1G>A
NM_017915.5
p.T57S
c.169A>T
NM_017915.5
p.V84M
c.250G>A
NM_017915.5
p.Q112*
c.334C>T
NM_017915.5
p.N125S
c.374A>G
NM_017915.5
p.P129_S130Splc
c.388-2046C>T
NM_017915.5
p.S150F
c.449C>T