| 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.10141892_10141951del | CA2664399904 | VHL | c.45_104del (p.Glu16_Ala35del) | gnomAD v4 |
| 3 | g.10141915_10141959del | CA2516254345 | VHL | c.68_112del (p.Tyr23_Glu37del) | |
| 3 | g.10141922_10141966del | CA2740090896 | VHL | c.75_119del (p.Glu26_Pro40del) | ClinVar |
| 3 | g.10141922_10141981del | CA2664399905 | VHL | c.75_134del (p.Glu26_Pro45del) | gnomAD v4 |
| 3 | g.10141930_10141947dup | CA16042062 | VHL | c.83_100dup (p.Ser33_Gly34insAspGlyGlyGluGluSer) | ClinVar dbSNP |
| 3 | g.10141930_10141975delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC | CA1345065141 | VHL | c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC (p.Asp28=) | |
| 3 | g.10141935_10141979del | CA541213519 | VHL | c.88_132del (p.Gly30_Gly44del) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10141935G>A | CA70042258 | VHL | c.88G>A (p.Gly30Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10141935G>C | CA351747563 | VHL | c.88G>C (p.Gly30Arg) | ClinVar dbSNP |
| 3 | g.10141935G= | CA1345065170 | VHL | c.88G= (p.Gly30=) | |
| 3 | g.10141935G>T | CA351747567 | VHL | c.88G>T (p.Gly30Trp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141938del | CA2580068386 | VHL | c.91del (p.Glu31ArgfsTer?) | ClinVar |
| 3 | g.10141937_10141938del | CA645524627 | VHL | c.90_91del (p.Glu31GlyfsTer?) | COSMIC COSMIC |
| 3 | g.10141936G>A | CA16617781 | VHL | c.89G>A (p.Gly30Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10141936G>C | CA351747570 | VHL | c.89G>C (p.Gly30Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10141936G= | CA1345065177 | VHL | c.89G= (p.Gly30=) | |
| 3 | g.10141936G>T | CA351747574 | VHL | c.89G>T (p.Gly30Val) | gnomAD v4 |
| 3 | g.10141936_10142144del | CA2573050894 | VHL | c.89_297del (p.Gly30AspfsTer?) | |
| 3 | g.10141937G>A | CA432536244 | VHL | c.90G>A (p.Gly30=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10141937G>C | CA70042260 | VHL | c.90G>C (p.Gly30=) | dbSNP |
| 3 | g.10141937G= | CA1345065182 | VHL | c.90G= (p.Gly30=) | |
| 3 | g.10141937G>T | CA432536245 | VHL | c.90G>T (p.Gly30=) | dbSNP |
| 3 | g.10141940_10141969dup | CA1345065181 | VHL | c.93_122dup (p.Glu41_Glu42insGluSerGlyAlaGluGluSerGlyProGlu) | ClinVar dbSNP |
| 3 | g.10141938G>A | CA351747595 | VHL | c.91G>A (p.Glu31Lys) | |
| 3 | g.10141938G>C | CA351747597 | VHL | c.91G>C (p.Glu31Gln) | |
| 3 | g.10141938G= | CA1345065183 | VHL | c.91G= (p.Glu31=) | |
| 3 | g.10141938G>T | CA351747598 | VHL | c.91G>T (p.Glu31Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141946_10141960dup | CA541213520 | VHL | c.99_113dup (p.Ser38_Gly39insGlyAlaGluGluSer) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10141939A>C | CA351747599 | VHL | c.92A>C (p.Glu31Ala) | |
| 3 | g.10141939A>G | CA351747601 | VHL | c.92A>G (p.Glu31Gly) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10141939A>T | CA351747605 | VHL | c.92A>T (p.Glu31Val) | |
| 3 | g.10141940G>A | CA432536248 | VHL | c.93G>A (p.Glu31=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141940G>C | CA351747611 | VHL | c.93G>C (p.Glu31Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10141940G= | CA1345065185 | VHL | c.93G= (p.Glu31=) | |
| 3 | g.10141940G>T | CA351747615 | VHL | c.93G>T (p.Glu31Asp) |