| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99817685C>G | CA371772939 | VPS13B | c.8318C>G (p.Ser2773Trp) n.8388C>G c.*4000C>G (n.*4000C>G) c.8243C>G (p.Ser2748Trp) c.8315C>G (p.Ser2772Trp) c.8240C>G (p.Ser2747Trp) c.7940C>G (p.Ser2647Trp) c.5204C>G (p.Ser1735Trp) c.4097C>G (p.Ser1366Trp) c.8123C>G (p.Ser2708Trp) c.3875C>G (p.Ser1292Trp) c.7103C>G (p.Ser2368Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99817685C>T | CA284811 | VPS13B | c.8318C>T (p.Ser2773Leu) n.8388C>T c.*4000C>T (n.*4000C>T) c.8243C>T (p.Ser2748Leu) c.8315C>T (p.Ser2772Leu) c.8240C>T (p.Ser2747Leu) c.7940C>T (p.Ser2647Leu) c.5204C>T (p.Ser1735Leu) c.4097C>T (p.Ser1366Leu) c.8123C>T (p.Ser2708Leu) c.3875C>T (p.Ser1292Leu) c.7103C>T (p.Ser2368Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |