Papers
RefSeq ID
Protein change
DNA change
1–12 of 1276 variants
NM_001005242.3
p.R79*
c.235C>T
NM_001005242.3
p.Q49_T50delFs
c.145_148del4
NM_001005242.3
p.S140F
c.419C>T
NM_001005242.3
p.R413*
c.1237C>T
NM_001005242.3
p.D26N
c.76G>A
NM_001005242.3
p.Q62K
c.184C>A
NM_001005242.3
p.G548delFs
c.1643delC
NM_001005242.3
p.Q133*
c.397C>T
NM_001005242.3
p.Q378*
c.1132C>T
NM_001005242.3
p.L366P
c.1097T>C
NM_001005242.3
p.S70I
c.209G>T
NM_001005242.3
p.T50fs
c.148_149fs