Papers
RefSeq ID
Protein change
DNA change
1–12 of 98 variants
NM_001256007.3
p.L759delFs
c.2275_2276delAG
NM_001256007.3
p.L759fs
c.2275_2276fs
NM_001256007.3
p.S140*
c.419C>A
NM_001256007.3
p.E173*
c.517G>T
NM_001256007.3
p.Y583delFs
c.1748_1749delAT
NM_001256007.3
p.H625R
c.1874A>G
NM_001256007.3
p.L390insFs
c.1169_1170dupTT
NM_001256007.3
p.T757fs
c.2269_2270fs
NM_001256007.3
p.T757delFs
c.2269delT
NM_001256007.3
p.N212fs
c.634_635fs
NM_001256007.3
p.R411*
c.1231C>T
NM_001256007.3
p.V520D
c.1559T>A