Papers
RefSeq ID
Protein change
DNA change
1–12 of 152 variants
NM_005151.4
p.Q40K
c.118C>A
NM_005151.4
p.L78_P79delFs
c.233_236del4
NM_005151.4
p.L78fs
c.232_233fs
NM_005151.4
p.E202K
c.604G>A
NM_005151.4
p.D227N
c.679G>A
NM_005151.4
p.P26_M27insFs
c.78_79insT
NM_005151.4
p.P172S
c.514C>T
NM_005151.4
p.A233_P236del4
c.697_707del12
NM_005151.4
p.V343A
c.1028T>C
NM_005151.4
p.P2Fs
c.4delinsGCFs
NM_005151.4
p.L3P
c.8T>C
NM_005151.4
p.S5Y
c.14C>A