Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_004553.6
p.C115Y
c.344G>A
NM_004553.6
p.L103_D104Splc
c.309+5G>A
NM_004553.6
p.C115R
c.343T>C
NM_004553.6
p.E62_V63Splc
c.186+2T>A
NM_004553.6
p.Q118*
c.352C>T
NM_004553.6
p.V63fs
c.187_188fs
NM_004553.6
p.C115F
c.344G>T
NM_004553.6
p.R83W
c.247C>T
NM_004553.6
p.L103_D104Splc
c.309+2T>C
NM_004553.6
p.T107_K108delFs
c.320_323del4
NM_004553.6
p.A2_L10delFs
c.6_28del23
NM_004553.6
p.M1I
c.3G>A