Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144399104G>ACA281551ZEB2c.*1932C>T (n.*1932C>T)
c.1306C>T (p.Arg436Ter)
c.2083C>T (p.Arg695Ter)
n.2052C>T
c.1747C>T (p.Arg583Ter)
c.2158C>T (p.Arg720Ter)
c.*1800C>T (n.*1800C>T)
n.2183C>T
c.-133-254C>T (n.-133-254C>T)
n.2631C>T
c.2080C>T (p.Arg694Ter)
c.655+2095C>T (n.655+2095C>T)
c.2170C>T (p.Arg724Ter)
c.1167+433C>T (n.1167+433C>T)
c.2011C>T (p.Arg671Ter)
c.2074C>T (p.Arg692Ter)
c.2062C>T (p.Arg688Ter)
ClinVar dbSNP COSMIC
2g.144399104G>TCA429445411ZEB2c.*1932C>A (n.*1932C>A)
c.1306C>A (p.Arg436=)
c.2083C>A (p.Arg695=)
n.2052C>A
c.1747C>A (p.Arg583=)
c.2158C>A (p.Arg720=)
c.*1800C>A (n.*1800C>A)
n.2183C>A
c.-133-254C>A (n.-133-254C>A)
n.2631C>A
c.2080C>A (p.Arg694=)
c.655+2095C>A (n.655+2095C>A)
c.2170C>A (p.Arg724=)
c.1167+433C>A (n.1167+433C>A)
c.2011C>A (p.Arg671=)
c.2074C>A (p.Arg692=)
c.2062C>A (p.Arg688=)
dbSNP gnomAD v4
2g.144399104G=CA1294885160ZEB2c.*1932C= (n.*1932C=)
c.1306C= (p.Arg436=)
c.2083C= (p.Arg695=)
n.2052C=
c.1747C= (p.Arg583=)
c.2158C= (p.Arg720=)
c.*1800C= (n.*1800C=)
n.2183C=
c.-133-254C= (n.-133-254C=)
n.2631C=
c.2080C= (p.Arg694=)
c.655+2095C= (n.655+2095C=)
c.2170C= (p.Arg724=)
c.1167+433C= (n.1167+433C=)
c.2011C= (p.Arg671=)
c.2074C= (p.Arg692=)
c.2062C= (p.Arg688=)
dbSNP
2g.144399104G>CCA348709068ZEB2c.*1932C>G (n.*1932C>G)
c.1306C>G (p.Arg436Gly)
c.2083C>G (p.Arg695Gly)
n.2052C>G
c.1747C>G (p.Arg583Gly)
c.2158C>G (p.Arg720Gly)
c.*1800C>G (n.*1800C>G)
n.2183C>G
c.-133-254C>G (n.-133-254C>G)
n.2631C>G
c.2080C>G (p.Arg694Gly)
c.655+2095C>G (n.655+2095C>G)
c.2170C>G (p.Arg724Gly)
c.1167+433C>G (n.1167+433C>G)
c.2011C>G (p.Arg671Gly)
c.2074C>G (p.Arg692Gly)
c.2062C>G (p.Arg688Gly)
dbSNP

Number of alleles fetched