Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
NM_007198.4
p.R241Q
c.722G>A
NM_007198.4
p.P87L
c.260C>T
NM_007198.4
p.P40L
c.119C>T
NM_007198.4
p.A107Splc
c.320-2A>G
NM_007198.4
p.R205Q
c.614G>A
NM_007198.4
p.R41Q
c.122G>A
NM_007198.4
p.Y69C
c.206A>G
NM_007198.4
p.R41W
c.121C>T
NM_007198.4
p.E67K
c.199G>A
NM_007198.4
p.S84fs
c.250_251fs
NM_007198.4
p.D124_K125delFs
c.370_373del4
NM_007198.4
p.L175P
c.524T>C