Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_014867.3
p.V5A
c.14T>C
NM_014867.3
p.S24_E25ins0
c.70_75dup6
NM_014867.3
p.L41_C42delFs
c.121_124del4
NM_014867.3
p.S44G
c.130A>G
NM_014867.3
p.R76R
c.228G>A
NM_014867.3
p.A80T
c.238G>A
NM_014867.3
p.A98V
c.293C>T
NM_014867.3
p.E121_G124del4
c.361_371del12
NM_014867.3
p.E121_G124del0
c.363_371del9
NM_014867.3
p.R166fs
c.496_497fs
NM_014867.3
p.L184V
c.550C>G
NM_014867.3
p.G228A
c.683G>C