Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_003695.3
p.G75R
c.223G>C
NM_003695.3
p.G75S
c.223G>A
NM_003695.3
p.M1K
c.2T>A
NM_003695.3
p.T15fs
c.43_44fs
NM_003695.3
p.T15_A18delFs
c.43_52del10
NM_003695.3
p.S29Y
c.86C>A
NM_003695.3
p.C32*
c.96C>A
NM_003695.3
p.S41R
c.121A>C
NM_003695.3
p.S41R
c.123C>G
NM_003695.3
p.S41R
c.123C>A
NM_003695.3
p.E52K
c.154G>A
NM_003695.3
p.D90N
c.268G>A