| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.47206103C>T | CA340955 | UBA1 | c.1731C>T (p.Asn577=) n.490C>T c.1749C>T (p.Asn583=) c.1815C>T (p.Asn605=) c.1773C>T (p.Asn591=) n.216-753G>A c.1884C>T (p.Asn628=) n.284-753G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.47206103C= | CA2427845527 | UBA1 | c.1731C= (p.Asn577=) n.490C= c.1749C= (p.Asn583=) c.1815C= (p.Asn605=) c.1773C= (p.Asn591=) n.216-753G= c.1884C= (p.Asn628=) n.284-753G= | dbSNP |