Papers
RefSeq ID
Protein change
DNA change
1–12 of 98 variants
NM_020312.4
p.R244*
c.730C>T
NM_020312.4
p.E174Splc
c.521+2T>C
NM_020312.4
p.D237_F238Splc
c.711+3G>C
NM_020312.4
p.R27G
c.79C>G
NM_020312.4
p.L128delFs
c.384delG
NM_020312.4
p.G129fs
c.385_386fs
NM_020312.4
p.P34P
c.102G>A
NM_020312.4
p.Q299*
c.895C>T
NM_020312.4
p.H62R
c.185A>G
NM_020312.4
p.E91_D92del1
c.273_275delGGA
NM_020312.4
p.Q98R
c.293A>G
NM_020312.4
p.R102H
c.305G>A