Papers
RefSeq ID
Protein change
DNA change
1–12 of 193 variants
NM_001631.5
p.G11R
c.31G>C
NM_001631.5
p.Q440Q
c.1320G>A
NM_001631.5
p.Q439*
c.1315C>T
NM_001631.5
p.A360V
c.1079C>T
NM_001631.5
p.E200K
c.598G>A
NM_001631.5
p.R461R
c.1383C>T
NM_001631.5
p.G19insFs
c.56dupG
NM_001631.5
p.W31*
c.93G>A
NM_001631.5
p.G145V
c.434G>T
NM_001631.5
p.L209V
c.625C>G
NM_001631.5
p.I215T
c.644T>C
NM_001631.5
p.E235E
c.705G>A