Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_005828.5
p.A172T
c.514G>A
NM_005828.5
p.G186delFs
c.556delG
NM_005828.5
p.H4P
c.11A>C
NM_005828.5
p.K6R
c.17A>G
NM_005828.5
p.Y11_K12delFs
c.33_36del4
NM_005828.5
p.E14A
c.41A>C
NM_005828.5
p.E14D
c.42A>C
NM_005828.5
p.A15E
c.44C>A
NM_005828.5
p.S25R
c.73A>C
NM_005828.5
p.S25G
c.73A>G
NM_005828.5
p.R33_L36del4
c.97_107del12
NM_005828.5
p.Y43_N45delFs
c.129_133del5