Papers
RefSeq ID
Protein change
DNA change
1–12 of 63 variants
NM_017673.7
p.N821D
c.2461A>G
NM_017673.7
p.H536R
c.1607A>G
NM_017673.7
p.I148V
c.442A>G
NM_017673.7
p.M1_E5delFs
c.1_13del13
NM_017673.7
p.M1_S13del13
c.1_38del39
NM_017673.7
p.S2_S3insFs
c.6_7insAA
NM_017673.7
p.E5*
c.13G>T
NM_017673.7
p.K16E
c.46A>G
NM_017673.7
p.T19N
c.56C>A
NM_017673.7
p.K52E
c.154A>G
NM_017673.7
p.L55_K56Splc
c.166-8T>A
NM_017673.7
p.R84T
c.251G>C