| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31337430C>G | CA399013125 | NF1 | c.6472C>G (p.Leu2158Val) c.1054C>G (p.Leu352Val) n.1368C>G c.646C>G (p.Leu216Val) n.3135C>G c.6520C>G (p.Leu2174Val) c.6490C>G (p.Leu2164Val) c.6427C>G (p.Leu2143Val) c.5425C>G (p.Leu1809Val) c.6626C>G (n.6626C>G) c.6481C>G (p.Leu2161Val) c.6457C>G (p.Leu2153Val) c.6517C>G (p.Leu2173Val) | dbSNP |
| 17 | g.31337430C>A | CA251446 | NF1 | c.6472C>A (p.Leu2158Met) c.1054C>A (p.Leu352Met) n.1368C>A c.646C>A (p.Leu216Met) n.3135C>A c.6520C>A (p.Leu2174Met) c.6490C>A (p.Leu2164Met) c.6427C>A (p.Leu2143Met) c.5425C>A (p.Leu1809Met) c.6626C>A (n.6626C>A) c.6481C>A (p.Leu2161Met) c.6457C>A (p.Leu2153Met) c.6517C>A (p.Leu2173Met) | ClinVar dbSNP |
| 17 | g.31337430C>T | CA499234047 | NF1 | c.6472C>T (p.Leu2158=) c.1054C>T (p.Leu352=) n.1368C>T c.646C>T (p.Leu216=) n.3135C>T c.6520C>T (p.Leu2174=) c.6490C>T (p.Leu2164=) c.6427C>T (p.Leu2143=) c.5425C>T (p.Leu1809=) c.6626C>T (n.6626C>T) c.6481C>T (p.Leu2161=) c.6457C>T (p.Leu2153=) c.6517C>T (p.Leu2173=) | dbSNP |