| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10135142_10142466del | CA2499216338 | ClinVar | ||
| 3 | g.10135142_10143568del | CA2499216339 | ClinVar | ||
| 3 | g.10137026_10145481del | CA2499216340 | ClinVar | ||
| 3 | g.10137102_10143357del | CA2499216341 | ClinVar | ||
| 3 | g.10139220_10148953del | CA2499216342 | ClinVar | ||
| 3 | g.10139708_10142406del | CA2499216343 | ClinVar | ||
| 3 | g.10139761_10142459del | CA2499216344 | ClinVar | ||
| 3 | g.10140648_10148414del | CA2499216345 | ClinVar | ||
| 3 | g.10140738_10142535del | CA2499216346 | ClinVar | ||
| 3 | g.10141523_10142610del | CA2499216347 | VHL | c.-325_340+423del | ClinVar |
| 3 | g.10141635_10149787del | CA2581463472 | VHL | c.-213_464del c.-213_341del c.-213_*18del | |
| 3 | g.10141847_10149786del | CA1139532106 | VHL | c.-1_*141-1del c.-1_575-1del c.-1_464-1del c.-1_341-1del c.-1_*18-1del | |
| 3 | g.10141849_10149966del | CA2581463473 | VHL | c.2_*320del c.2_*1del c.2_*197del | |
| 3 | g.10141848_10142187del | CA2581463474 | VHL | c.1_340del (p.Met1SerfsTer3) c.1_340del (p.Met1ValfsTer?) c.1_340del (p.Met1CysfsTer4) | |
| 3 | g.10141848_10146636del | CA2581463475 | VHL | c.1_*140del c.1_600-3151del c.1_463del c.1_341-3151del c.1_*18-3151del | |
| 3 | g.10141936_10142144del | CA2573050894 | VHL | c.89_297del (p.Gly30AspfsTer?) | |
| 3 | g.10142025_10142134del | CA645524667 | VHL | c.178_287del (p.Arg60AlafsTer?) | COSMIC |
| 3 | g.10142071_10149891del | CA1139532528 | VHL | c.224_*245del c.224_704del c.224_679del c.224_568del c.224_445del c.224_*122del | |
| 3 | g.10142074_10142168del | CA645524728 | VHL | c.227_321del (p.Phe76SerfsTer?) c.227_321del (p.Phe76SerfsTer24) c.227_321del (p.Phe76SerfsTer25) | COSMIC |
| 3 | g.10142098_10142127del | CA645524764 | VHL | c.251_280del (p.Val84_Gly93del) | COSMIC |
| 3 | g.10142101_10142130del | CA2499306645 | VHL | c.254_283del (p.Leu85_Glu94del) | |
| 3 | g.10142117_10142127del | CA645524786 | VHL | c.270_280del (p.Asn90LysfsTer?) | COSMIC |
| 3 | g.10142119_10142131del | CA645524788 | VHL | c.272_284del (p.Phe91CysfsTer22) c.272_284del (p.Phe91CysfsTer?) c.272_284del (p.Phe91CysfsTer23) | COSMIC |
| 3 | g.10142120_10142128del | CA645524792 | VHL | c.273_281del (p.Phe91_Glu94delinsLeu) | COSMIC |
| 3 | g.10142122_10142132del | CA645524789 | VHL | c.275_285del (p.Asp92AlafsTer?) | COSMIC |
| 3 | g.10142121_10142125del | CA645524793 | VHL | c.274_278del (p.Asp92ArgfsTer?) | COSMIC |
| 3 | g.10142121_10142139delinsGACGGCGAGCCGCAGCCCT | CA1345066109 | VHL | c.274_292delinsGACGGCGAGCCGCAGCCCT (p.Asp92=) | |
| 3 | g.10142122_10142129delinsT | CA645524794 | VHL | c.275_282delinsT (p.Asp92ValfsTer23) c.275_282delinsT (p.Asp92ValfsTer?) c.275_282delinsT (p.Asp92ValfsTer24) | COSMIC |
| 3 | g.10142124_10142141del | CA891843321 | VHL | c.277_294del (p.Gly93_Tyr98del) | ClinVar dbSNP |
| 3 | g.10142125_10142127del | CA645524795 | VHL | c.278_280del (p.Gly93del) | COSMIC |
| 3 | g.10142125del | CA432420500 | VHL | c.278del (p.Gly93AlafsTer24) c.278del (p.Gly93AlafsTer?) c.278del (p.Gly93AlafsTer25) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.10142125G>A | CA351750781 | VHL | c.278G>A (p.Gly93Asp) | ClinVar dbSNP |
| 3 | g.10142125G>C | CA351750780 | VHL | c.278G>C (p.Gly93Ala) | ClinVar dbSNP |
| 3 | g.10142125G= | CA1345066148 | VHL | c.278G= (p.Gly93=) | |
| 3 | g.10142125G>T | CA351750779 | VHL | c.278G>T (p.Gly93Val) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142125_10142126delinsGC | CA1345066154 | VHL | c.278_279delinsGC (p.Gly93=) | |
| 3 | g.10142125_10142126delinsTT | CA891843322 | VHL | c.278_279delinsTT (p.Gly93Val) | ClinVar dbSNP |
| 3 | g.10142126_10142127dup | CA645524798 | VHL | c.279_280dup (p.Glu94AlafsTer24) c.279_280dup (p.Glu94AlafsTer?) c.279_280dup (p.Glu94AlafsTer25) | COSMIC |
| 3 | g.10142126_10142127del | CA645524797 | VHL | c.279_280del (p.Glu94AlafsTer?) | COSMIC |
| 3 | g.10142126del | CA658820711 | VHL | c.279del (p.Glu94SerfsTer23) c.279del (p.Glu94SerfsTer?) c.279del (p.Glu94SerfsTer24) | |
| 3 | g.10142126C>A | CA432420501 | VHL | c.279C>A (p.Gly93=) | gnomAD v4 |
| 3 | g.10142126C= | CA1345066159 | VHL | c.279C= (p.Gly93=) | |
| 3 | g.10142126C>G | CA432420502 | VHL | c.279C>G (p.Gly93=) | |
| 3 | g.10142126C>T | CA432420503 | VHL | c.279C>T (p.Gly93=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142127_10142128insGACG | CA645524799 | VHL | c.280_281insGACG (p.Glu94GlyfsTer?) | COSMIC |
| 3 | g.10142127G>A | CA020237 | VHL | c.280G>A (p.Glu94Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142127G>C | CA351750786 | VHL | c.280G>C (p.Glu94Gln) | gnomAD v4 |
| 3 | g.10142127G= | CA1345066162 | VHL | c.280G= (p.Glu94=) | |
| 3 | g.10142127G>T | CA70046202 | VHL | c.280G>T (p.Glu94Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142128del | CA645524803 | VHL | c.281del (p.Glu94GlyfsTer23) c.281del (p.Glu94GlyfsTer?) c.281del (p.Glu94GlyfsTer24) | COSMIC |