| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36217448C>T | CA253688 | CLTA,GNE | c.2179G>A (p.Val727Met) c.1909G>A (p.Val637Met) c.2086G>A (p.Val696Met) c.1864G>A (p.Val622Met) c.485+13269C>T (n.485+13269C>T) c.1756G>A (p.Val586Met) c.2071G>A (p.Val691Met) c.2026G>A (p.Val676Met) c.1933G>A (p.Val645Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36217448C>A | CA239806 | CLTA,GNE | c.2179G>T (p.Val727Leu) c.1909G>T (p.Val637Leu) c.2086G>T (p.Val696Leu) c.1864G>T (p.Val622Leu) c.485+13269C>A (n.485+13269C>A) c.1756G>T (p.Val586Leu) c.2071G>T (p.Val691Leu) c.2026G>T (p.Val676Leu) c.1933G>T (p.Val645Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36217448C= | CA1846323874 | CLTA,GNE | c.2179G= (p.Val727=) c.1909G= (p.Val637=) c.2086G= (p.Val696=) c.1864G= (p.Val622=) c.485+13269C= (n.485+13269C=) c.1756G= (p.Val586=) c.2071G= (p.Val691=) c.2026G= (p.Val676=) c.1933G= (p.Val645=) | dbSNP |