| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99871572_99871575del | CA264017 | VPS13B | c.*1349_*1352del (n.*1349_*1352del) n.12325_12328del c.*7377_*7380del (n.*7377_*7380del) c.11620_11623del (p.Ser3876ArgfsTer?) c.11695_11698del (p.Ser3901ArgfsTer?) n.1197_1200del c.11692_11695del (p.Ser3900ArgfsTer?) c.11617_11620del (p.Ser3875ArgfsTer?) c.11317_11320del (p.Ser3775ArgfsTer?) c.8581_8584del (p.Ser2863ArgfsTer?) c.7474_7477del (p.Ser2494ArgfsTer?) c.11500_11503del (p.Ser3836ArgfsTer?) c.7252_7255del (p.Ser2420ArgfsTer?) c.10480_10483del (p.Ser3496ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99871572_99871575dup | CA2688074107 | VPS13B | c.*1349_*1352dup (n.*1349_*1352dup) n.12325_12328dup c.*7377_*7380dup (n.*7377_*7380dup) c.11620_11623dup (p.Val3875GlufsTer4) c.11695_11698dup (p.Val3900GlufsTer4) n.1197_1200dup c.11692_11695dup (p.Val3899GlufsTer4) c.11617_11620dup (p.Val3874GlufsTer4) c.11317_11320dup (p.Val3774GlufsTer4) c.8581_8584dup (p.Val2862GlufsTer4) c.7474_7477dup (p.Val2493GlufsTer4) c.11500_11503dup (p.Val3835GlufsTer4) c.7252_7255dup (p.Val2419GlufsTer4) c.10480_10483dup (p.Val3495GlufsTer4) | dbSNP gnomAD v4 |