Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_014637.4
p.L2F
c.4C>T
NM_014637.4
p.S22_V23Splc
c.66+3G>T
NM_014637.4
p.R34G
c.100C>G
NM_014637.4
p.V37I
c.109G>A
NM_014637.4
p.S45P
c.133T>C
NM_014637.4
p.I56I
c.168T>A
NM_014637.4
p.A74V
c.221C>T
NM_014637.4
p.V82_A83delFs
c.246_249del4
NM_014637.4
p.E85V
c.254A>T
NM_014637.4
p.C89*
c.267T>A
NM_014637.4
p.R94Splc
c.282-208A>C
NM_014637.4
p.S119A
c.355T>G