Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_003372.7
p.M1T
c.2T>C
NM_003372.7
p.A3G
c.8C>G
NM_003372.7
p.E12V
c.35A>T
NM_003372.7
p.L21I
c.61C>A
NM_003372.7
p.P26T
c.76C>A
NM_003372.7
p.V31_E32Splc
c.94-43C>T
NM_003372.7
p.A68D
c.203C>A
NM_003372.7
p.K95_E96Splc
c.285+1G>A
NM_003372.7
p.L111M
c.331C>A
NM_003372.7
p.Y112H
c.334T>C
NM_003372.7
p.S116T
c.346T>A
NM_003372.7
p.D121G
c.362A>G