Papers
RefSeq ID
Protein change
DNA change
1–12 of 269 variants
NM_000948.6
p.N104_Q105Splc
c.313-1G>A
NM_000948.6
p.L181delFs
c.542delA
NM_000948.6
p.W8R
c.22T>A
NM_000948.6
p.P30L
c.89C>T
NM_000948.6
p.W8R
c.22T>C
NM_000948.6
p.G10E
c.29G>A
NM_000948.6
p.L14L
c.40C>T
NM_000948.6
p.C23S
c.67T>A
NM_000948.6
p.C23S
c.68G>C
NM_000948.6
p.F68_D69Splc
c.205-1G>C
NM_000948.6
p.E135delFs
c.404delT
NM_000948.6
p.S142_K143delFs
c.424_427del4