Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_004542.4
p.R4Splc
c.10+1G>T
NM_004542.4
p.S22_F23del1
c.66_68delCTT
NM_004542.4
p.L81V
c.241C>G
NM_004542.4
p.V66_S68del3
c.196_203del9
NM_004542.4
p.M1T
c.2T>C
NM_004542.4
p.M1I
c.3G>A
NM_004542.4
p.R4insFs
c.10_11ins10
NM_004542.4
p.V21L
c.61G>C
NM_004542.4
p.V21L
c.61G>T
NM_004542.4
p.Y38*
c.114C>G
NM_004542.4
p.P50T
c.148C>A
NM_004542.4
p.V55Splc
c.164-362G>A