Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_198722.3
p.E96K
c.286G>A
NM_198722.3
p.K447N
c.1341G>T
NM_198722.3
p.K447N
c.1341G>C
NM_198722.3
p.T20I
c.59C>T
NM_198722.3
p.H32R
c.95A>G
NM_198722.3
p.A41V
c.122C>T
NM_198722.3
p.A72_L73ins7
c.214_218ins21
NM_198722.3
p.Q74*
c.220C>T
NM_198722.3
p.L76fs
c.226_227fs
NM_198722.3
p.G79_W80insP
c.235_239ins3
NM_198722.3
p.L81fs
c.241_242fs
NM_198722.3
p.D115A
c.344A>C