Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.54939525G>A | CA115084 | NLRP7 | c.1294C>T (p.Arg432Ter) c.1378C>T (p.Arg460Ter) n.1812C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.54939525G= | CA2343150940 | NLRP7 | c.1294C= (p.Arg432=) c.1378C= (p.Arg460=) n.1812C= | dbSNP |
19 | g.54939525G>T | CA2587198364 | NLRP7 | c.1294C>A (p.Arg432=) c.1378C>A (p.Arg460=) n.1812C>A | dbSNP gnomAD v4 |