Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_032273.4
p.R55*
c.163C>T
NM_032273.4
p.S36L
c.107C>T
NM_032273.4
p.N42K
c.126T>A
NM_032273.4
p.R29Splc
c.86+2T>C
NM_032273.4
p.S52G
c.154A>G
NM_032273.4
p.R105Q
c.314G>A
NM_032273.4
p.Q166R
c.497A>G
NM_032273.4
p.E2del1
c.4_5delGAA
NM_032273.4
p.E2*
c.4G>T
NM_032273.4
p.H4ins2
c.10_11ins6
NM_032273.4
p.E10delFs
c.28delG
NM_032273.4
p.E10_N11ins6
c.28_32ins18