Papers
RefSeq ID
Protein change
DNA change
NM_001396485.1
p.R127G
c.379C>G
NM_001396485.1
p.V167M
c.499G>A
NM_001396485.1
p.K187_L188ins1
c.561_562insCCA
NM_001396485.1
p.E331Q
c.991G>C
NM_001396485.1
p.S362fs
c.1084_1085fs
NM_001396485.1
p.P363fs
c.1087_1088fs
NM_001396485.1
p.S362_E375Fs
c.1084_1125delinsGFs
NM_001396485.1
p.S362_E375Fs
c.1084_1125delinsCFs
NM_001396485.1
p.S362_E375delFs
c.1084_1124del41
NM_001396485.1
p.S362_E375delFs
c.1085_1125del41