| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99820031A>G | CA090981 | VPS13B | c.8978A>G (p.Asn2993Ser) n.9048A>G c.*4660A>G (n.*4660A>G) c.8903A>G (p.Asn2968Ser) c.8975A>G (p.Asn2992Ser) c.8900A>G (p.Asn2967Ser) c.8600A>G (p.Asn2867Ser) c.5864A>G (p.Asn1955Ser) c.4757A>G (p.Asn1586Ser) c.8783A>G (p.Asn2928Ser) c.4535A>G (p.Asn1512Ser) c.7763A>G (p.Asn2588Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.99820031A= | CA2580844805 | VPS13B | c.8978A= (p.Asn2993=) n.9048A= c.*4660A= (n.*4660A=) c.8903A= (p.Asn2968=) c.8975A= (p.Asn2992=) c.8900A= (p.Asn2967=) c.8600A= (p.Asn2867=) c.5864A= (p.Asn1955=) c.4757A= (p.Asn1586=) c.8783A= (p.Asn2928=) c.4535A= (p.Asn1512=) c.7763A= (p.Asn2588=) | dbSNP |