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.10141936_10142144del | CA2573050894 | VHL | c.89_297del (p.Gly30AspfsTer?) | |
3 | g.10141940_10141969dup | CA1345065181 | VHL | c.93_122dup (p.Glu41_Glu42insGluSerGlyAlaGluGluSerGlyProGlu) | ClinVar dbSNP |
3 | g.10141946_10141960dup | CA541213520 | VHL | c.99_113dup (p.Ser38_Gly39insGlyAlaGluGluSer) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141944del | CA2573136080 | VHL | c.97del (p.Ser33ArgfsTer?) | ClinVar dbSNP |
3 | g.10141944T>A | CA351747637 | VHL | c.97T>A (p.Ser33Thr) | ClinVar dbSNP |
3 | g.10141944T>C | CA351747643 | VHL | c.97T>C (p.Ser33Pro) | dbSNP |
3 | g.10141944T>G | CA70042266 | VHL | c.97T>G (p.Ser33Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141944T= | CA1345065194 | VHL | c.97T= (p.Ser33=) | |
3 | g.10141944_10141945insG | CA432536255 | VHL | c.97_98insG (p.Ser33CysfsTer?) | |
3 | g.10141945C>A | CA351747649 | VHL | c.98C>A (p.Ser33Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.10141945C= | CA1345065201 | VHL | c.98C= (p.Ser33=) | |
3 | g.10141945C>G | CA351747659 | VHL | c.98C>G (p.Ser33Trp) | dbSNP |
3 | g.10141945C>T | CA351747655 | VHL | c.98C>T (p.Ser33Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141945_10141990delinsCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACT | CA1345065203 | VHL | c.98_143delinsCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACT (p.Ser33=) | |
3 | g.10141946G>A | CA432536259 | VHL | c.99G>A (p.Ser33=) | dbSNP gnomAD v4 |
3 | g.10141946G>C | CA70042269 | VHL | c.99G>C (p.Ser33=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141946G= | CA1345065211 | VHL | c.99G= (p.Ser33=) | |
3 | g.10141946G>T | CA432536257 | VHL | c.99G>T (p.Ser33=) | ClinVar gnomAD v4 |
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.10141946_10141947insA | CA2018007671 | VHL | c.99_100insA (p.Gly34ArgfsTer?) | |
3 | g.10141947G>A | CA351747666 | VHL | c.100G>A (p.Gly34Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10141947G>C | CA351747668 | VHL | c.100G>C (p.Gly34Arg) | dbSNP |
3 | g.10141947G>T | CA351747673 | VHL | c.100G>T (p.Gly34Cys) | dbSNP |
3 | g.10141950_10141964dup | CA658655747 | VHL | c.103_117dup (p.Gly39_Pro40insAlaGluGluSerGly) | ClinVar dbSNP |
3 | g.10141948G>A | CA351747681 | VHL | c.101G>A (p.Gly34Asp) | dbSNP |
3 | g.10141948G>C | CA351747685 | VHL | c.101G>C (p.Gly34Ala) | |
3 | g.10141948G>T | CA351747690 | VHL | c.101G>T (p.Gly34Val) |