Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_001113475.3
p.Q11K
c.31C>A
NM_001113475.3
p.Y14C
c.41A>G
NM_001113475.3
p.P17A
c.49C>G
NM_001113475.3
p.R52Splc
c.155+8G>A
NM_001113475.3
p.N58S
c.173A>G
NM_001113475.3
p.S65L
c.194C>T
NM_001113475.3
p.E76delFs
c.227_228delCT
NM_001113475.3
p.V79M
c.235G>A
NM_001113475.3
p.G80D
c.239G>A
NM_001113475.3
p.L96_Q97insFs
c.288_289insCA
NM_001113475.3
p.G117Splc
c.350-2A>G
NM_001113475.3
p.R189P
c.566G>C