| 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.10141922_10141981del | CA2664399905 | VHL | c.75_134del (p.Glu26_Pro45del) | gnomAD v4 |
| 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.10141936_10142144del | CA2573050894 | VHL | c.89_297del (p.Gly30AspfsTer?) | |
| 3 | g.10141945_10141990delinsCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACT | CA1345065203 | VHL | c.98_143delinsCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACT (p.Ser33=) | |
| 3 | g.10141959_10142003dup | CA915941834 | VHL | c.112_156dup (p.Glu52_Glu53insSerGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGlu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141959_10142003del | CA1139655723 | VHL | c.112_156del (p.Ser38_Glu52del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141970_10141984dup | CA541213522 | VHL | c.123_137dup (p.Glu46_Glu47insGluSerGlyProGlu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10141970_10141984del | CA039321 | VHL | c.123_137del (p.Glu42_Glu46del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10141960_10142004del | CA2664399907 | VHL | c.113_157del (p.Ser38Ter) | gnomAD v4 |
| 3 | g.10141970_10141973del | CA2573136081 | VHL | c.123_126del (p.Glu41AspfsTer25) | ClinVar dbSNP |
| 3 | g.10141973del | CA16602177 | VHL | c.126del (p.Glu42AspfsTer25) | |
| 3 | g.10141973G>A | CA432536341 | VHL | c.126G>A (p.Glu42=) | |
| 3 | g.10141973G>C | CA351747990 | VHL | c.126G>C (p.Glu42Asp) | ClinVar gnomAD v4 |
| 3 | g.10141973G>T | CA351747994 | VHL | c.126G>T (p.Glu42Asp) | |
| 3 | g.10141974T>A | CA351747998 | VHL | c.127T>A (p.Ser43Thr) | dbSNP gnomAD v4 |
| 3 | g.10141974T>C | CA351748001 | VHL | c.127T>C (p.Ser43Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141974T>G | CA351748006 | VHL | c.127T>G (p.Ser43Ala) | dbSNP |
| 3 | g.10141974T= | CA1345065301 | VHL | c.127T= (p.Ser43=) | |
| 3 | g.10141975C>A | CA70042349 | VHL | c.128C>A (p.Ser43Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141975C= | CA1345065302 | VHL | c.128C= (p.Ser43=) | |
| 3 | g.10141975C>G | CA351748024 | VHL | c.128C>G (p.Ser43Cys) | ClinVar dbSNP |
| 3 | g.10141975C>T | CA351748026 | VHL | c.128C>T (p.Ser43Phe) | dbSNP COSMIC |
| 3 | g.10141976C>A | CA432536342 | VHL | c.129C>A (p.Ser43=) | gnomAD v4 |
| 3 | g.10141976C= | CA1345065304 | VHL | c.129C= (p.Ser43=) | |
| 3 | g.10141976C>G | CA432536343 | VHL | c.129C>G (p.Ser43=) | ClinVar dbSNP |
| 3 | g.10141976C>T | CA350263 | VHL | c.129C>T (p.Ser43=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10141977G>A | CA351748044 | VHL | c.130G>A (p.Gly44Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141977G>C | CA351748058 | VHL | c.130G>C (p.Gly44Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141977G= | CA1345065308 | VHL | c.130G= (p.Gly44=) | |
| 3 | g.10141977G>T | CA351748054 | VHL | c.130G>T (p.Gly44Cys) | dbSNP gnomAD v4 |
| 3 | g.10141978del | CA16602178 | VHL | c.131del (p.Gly44AlafsTer23) | |
| 3 | g.10141978G>A | CA70042374 | VHL | c.131G>A (p.Gly44Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10141978G>C | CA351748061 | VHL | c.131G>C (p.Gly44Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141978G= | CA1345065311 | VHL | c.131G= (p.Gly44=) |