Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
NM_006392.4
p.I121V
c.361A>G
NM_006392.4
p.M475T
c.1424T>C
NM_006392.4
p.V576A
c.1727T>C
NM_006392.4
p.T209I
c.626C>T
NM_006392.4
p.S297L
c.890C>T
NM_006392.4
p.K584_K585del1
c.1752_1754delGAA
NM_006392.4
p.M1_V2insT
c.1_5ins3
NM_006392.4
p.M1insFs
c.1_2insT
NM_006392.4
p.M1_V2Splc
c.3+1G>T
NM_006392.4
p.M1_V2Splc
c.4-84C>G
NM_006392.4
p.V2V
c.6G>A
NM_006392.4
p.L3_F8insFs
c.7_22dup16