Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.31248995C>G | CA398994830 | NF1 | c.4031C>G (p.Ser1344Ter) c.1449C>G (n.1449C>G) n.92C>G n.694C>G c.4016C>G (p.Ser1339Ter) c.3986C>G (p.Ser1329Ter) c.2984C>G (p.Ser995Ter) c.462C>G n.2522C>G c.3761C>G c.4088C>G (p.Ser1363Ter) c.3977C>G (p.Ser1326Ter) c.4013C>G (p.Ser1338Ter) | ClinVar dbSNP COSMIC COSMIC |
17 | g.31248995C>T | CA398994829 | NF1 | c.4031C>T (p.Ser1344Leu) c.1449C>T (n.1449C>T) n.92C>T n.694C>T c.4016C>T (p.Ser1339Leu) c.3986C>T (p.Ser1329Leu) c.2984C>T (p.Ser995Leu) c.462C>T n.2522C>T c.3761C>T c.4088C>T (p.Ser1363Leu) c.3977C>T (p.Ser1326Leu) c.4013C>T (p.Ser1338Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.31248995C>A | CA16615504 | NF1 | c.4031C>A (p.Ser1344Ter) c.1449C>A (n.1449C>A) n.92C>A n.694C>A c.4016C>A (p.Ser1339Ter) c.3986C>A (p.Ser1329Ter) c.2984C>A (p.Ser995Ter) c.462C>A n.2522C>A c.3761C>A c.4088C>A (p.Ser1363Ter) c.3977C>A (p.Ser1326Ter) c.4013C>A (p.Ser1338Ter) | ClinVar dbSNP |