Papers
RefSeq ID
Protein change
DNA change
1–12 of 111 variants
NM_017510.6
p.Q170*
c.508C>T
NM_017510.6
p.T16S
c.46A>T
NM_017510.6
p.T33_G35Fs
c.98_104delinsTCCFs
NM_017510.6
p.G35E
c.104G>A
NM_017510.6
p.I54V
c.160A>G
NM_017510.6
p.Q67L
c.200A>T
NM_017510.6
p.Y69N
c.205T>A
NM_017510.6
p.T80I
c.239C>T
NM_017510.6
p.S126T
c.376T>A
NM_017510.6
p.L204L
c.612G>A
NM_017510.6
p.L212I
c.634C>A
NM_017510.6
p.M1_E4del4
c.1_11del12