| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23876394C>G | CA8915884 | LAMA3 | c.272C>G (p.Ser91Ter) c.5099C>G (p.Ser1700Ter) c.1991C>G (p.Ser664Ter) c.5126C>G (p.Ser1709Ter) c.5117C>G (p.Ser1706Ter) c.5108C>G (p.Ser1703Ter) c.4994C>G (p.Ser1665Ter) c.2978C>G (p.Ser993Ter) c.668C>G (p.Ser223Ter) n.5367C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876394C>A | CA402045069 | LAMA3 | c.272C>A (p.Ser91Ter) c.5099C>A (p.Ser1700Ter) c.1991C>A (p.Ser664Ter) c.5126C>A (p.Ser1709Ter) c.5117C>A (p.Ser1706Ter) c.5108C>A (p.Ser1703Ter) c.4994C>A (p.Ser1665Ter) c.2978C>A (p.Ser993Ter) c.668C>A (p.Ser223Ter) n.5367C>A | dbSNP gnomAD v4 |
| 18 | g.23876394C= | CA2290312361 | LAMA3 | c.272C= (p.Ser91=) c.5099C= (p.Ser1700=) c.1991C= (p.Ser664=) c.5126C= (p.Ser1709=) c.5117C= (p.Ser1706=) c.5108C= (p.Ser1703=) c.4994C= (p.Ser1665=) c.2978C= (p.Ser993=) c.668C= (p.Ser223=) n.5367C= | dbSNP |
| 18 | g.23876394C>T | CA402045068 | LAMA3 | c.272C>T (p.Ser91Leu) c.5099C>T (p.Ser1700Leu) c.1991C>T (p.Ser664Leu) c.5126C>T (p.Ser1709Leu) c.5117C>T (p.Ser1706Leu) c.5108C>T (p.Ser1703Leu) c.4994C>T (p.Ser1665Leu) c.2978C>T (p.Ser993Leu) c.668C>T (p.Ser223Leu) n.5367C>T | dbSNP gnomAD v4 |