Papers
RefSeq ID
Protein change
DNA change
1–12 of 189 variants
NM_003588.4
p.I336_I337delFs
c.1007_1011del5
NM_001079872.2
p.I336_E337delFs
c.1007_1011del5
NM_003588.4
p.R572C
c.1714C>T
NM_003588.4
p.V745A
c.2234T>C
NM_001079872.2
p.S125_S126del1
c.375_377delGAG
NM_001079872.2
p.S143_I144del1
c.429_431delATA
NM_001079872.2
p.L268insFs
c.803dupT
NM_001079872.2
p.I336fs
c.1006_1007fs
NM_003588.4
p.R388*
c.1162C>T
NM_001079872.2
p.Q429_L431del3
c.1285_1292del9
NM_001079872.2
p.R466*
c.1396C>T
NM_003588.4
p.K703*
c.2107A>T