Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
NM_005110.4
p.I471V
c.1411A>G
NM_005110.4
p.T309I
c.926C>T
NM_005110.4
p.I455L
c.1363A>C
NM_005110.4
p.R366Q
c.1097G>A
NM_005110.4
p.V463I
c.1387G>A
NM_005110.4
p.T680S
c.2038A>T
NM_005110.4
p.T680S
c.2039C>G
NM_005110.4
p.Y10Y
c.30C>T
NM_005110.4
p.V12_P13delFs
c.34_37del4
NM_005110.4
p.E21*
c.61G>T
NM_005110.4
p.Y35S
c.104A>C
NM_005110.4
p.G34_S37del4
c.100_110del12