Papers
RefSeq ID
Protein change
DNA change
1–12 of 192 variants
NM_012079.6
p.D251Splc
c.751+2T>C
NM_012079.6
p.L105P
c.314T>C
NM_012079.6
p.S210_Y211del1
c.629_631delAGG
NM_012079.6
p.L295P
c.884T>C
NM_012079.6
p.F338_Y339del1
c.1013_1015delAGA
NM_012079.6
p.K312_D313Splc
c.937-1G>A
NM_012079.6
p.S420R
c.1260C>G
NM_012079.6
p.R280*
c.838C>T
NM_012079.6
p.Q298_W299Splc
c.895-1G>A
NM_012079.6
p.W401*
c.1202G>A
NM_012079.6
p.W401*
c.1203G>A
NM_012079.6
p.S420R
c.1258A>C