| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10137964_10142191del | CA3266346822 | |||
| 3 | g.10138759_10142146del | CA3260666409 | |||
| 3 | g.10141635_10142187del | CA3260666410 | VHL | c.-213_340del | |
| 3 | g.10141774_10142112dup | CA3266346847 | VHL | c.-74_265dup (p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAspProArgIleProArgArgProAlaArgValValTrpIleAlaGluGlyMetProArgArgAlaGluAsnTrpAspGluAlaGluValGlyAlaGluGluAlaGlyValGluGluTyrGlyProGluGluAspGlyGlyGluGluSerGlyAlaGluGluSerGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrp) | |
| 3 | g.10141773_10142187dup | CA3266346827 | VHL | c.-75_340dup (p.Gly114AlafsTer51) c.-75_340dup (p.Val114AlafsTer51) | |
| 3 | g.10141774_10142117dup | CA3266346836 | VHL | c.-74_270dup (p.Phe91AlafsTer38) | |
| 3 | g.10141774_10142183del | CA3266346846 | VHL | c.-74_336del | |
| 3 | g.10141773_10142189del | CA3266346826 | VHL | c.-75_340+2del | |
| 3 | g.10141773_10142189dup | CA3266346833 | VHL | c.-75_340+2dup | |
| 3 | g.10141838_10142197del | CA3260666414 | VHL | c.-10_340+10del | |
| 3 | g.10141848_10142187del | CA2581463474 | VHL | c.1_340del (p.Met1SerfsTer3) c.1_340del (p.Met1ValfsTer?) c.1_340del (p.Met1CysfsTer4) | |
| 3 | g.10141848_10142187dup | CA2850447111 | VHL | c.1_340dup (p.Val114AspfsTer26) c.1_340dup (p.Gly114AspfsTer26) | |
| 3 | g.10141848_10142197del | CA3260666416 | VHL | c.1_340+10del | |
| 3 | g.10141848_10142197dup | CA3260675140 | VHL | c.1_340+10dup | |
| 3 | g.10141936_10142144del | CA2573050894 | VHL | c.89_297del (p.Gly30AspfsTer?) | |
| 3 | g.10141971_10142190dup | CA3266346852 | VHL | c.124_340+3dup | |
| 3 | g.10141971_10142190del | CA3266346850 | VHL | c.124_340+3del | |
| 3 | g.10142001_10142188del | CA3266346855 | VHL | c.154_340+1del | |
| 3 | g.10142001_10142189del | CA3266346857 | VHL | c.154_340+2del | |
| 3 | g.10142001_10142189dup | CA3266346856 | VHL | c.154_340+2dup | |
| 3 | g.10142008_10142116del | CA3266346865 | VHL | c.161_269del (p.Met54ThrfsTer27) c.161_269del (p.Met54ThrfsTer?) c.161_269del (p.Met54ThrfsTer28) | |
| 3 | g.10142008_10142184del | CA3266346863 | VHL | c.161_337del (p.Met54_Tyr112del) | |
| 3 | g.10142008_10142189del | CA3266346861 | VHL | c.161_340+2del | |
| 3 | g.10142010_10142189del | CA3266346864 | VHL | c.163_340+2del | |
| 3 | g.10142025_10142134del | CA645524667 | VHL | c.178_287del (p.Arg60AlafsTer?) | COSMIC |
| 3 | g.10142030_10142189del | CA3266346866 | VHL | c.183_340+2del | |
| 3 | g.10142035_10142120dup | CA3266346870 | VHL | c.188_273dup (p.Asp92CysfsTer4) | |
| 3 | g.10142035_10142189del | CA3266346869 | VHL | c.188_340+2del | |
| 3 | g.10142039_10142121dup | CA3266346873 | VHL | c.192_274dup (p.Asp92AlafsTer3) | |
| 3 | g.10142038_10142116dup | CA3266346872 | VHL | c.191_269dup (p.Asn90LysfsTer?) | |
| 3 | g.10142039_10142120dup | CA3266346875 | VHL | c.192_273dup (p.Asp92LeufsTer?) | |
| 3 | g.10142039_10142189del | CA3266346874 | VHL | c.192_340+2del | |
| 3 | g.10142040_10142189del | CA3266346876 | VHL | c.193_340+2del | |
| 3 | g.10142062_10142106del | CA645524709 | VHL | c.215_259del (p.Ser72_Val87delinsLeu) | COSMIC |
| 3 | g.10142071_10142189del | CA3266346877 | VHL | c.224_340+2del | |
| 3 | g.10142074_10142168del | CA645524728 | VHL | c.227_321del (p.Phe76SerfsTer?) c.227_321del (p.Phe76SerfsTer24) c.227_321del (p.Phe76SerfsTer25) | COSMIC |
| 3 | g.10142082_10142189del | CA3266346878 | VHL | c.235_340+2del | |
| 3 | g.10142082_10142184del | CA3266346880 | VHL | c.235_337del (p.Arg79GlufsTer4) c.235_337del (p.Arg79GlufsTer?) c.235_337del (p.Arg79GlufsTer5) | |
| 3 | g.10142084_10142107delinsCAGTCCGCGCGTCGTGCTGCCCGT | CA1345065904 | VHL | c.237_260delinsCAGTCCGCGCGTCGTGCTGCCCGT (p.Arg79=) | |
| 3 | g.10142086_10142108del | CA913189503 | VHL | c.239_261del (p.Ser80MetfsTer?) | ClinVar dbSNP |
| 3 | g.10142086_10142190del | CA3266346882 | VHL | c.239_340+3del | |
| 3 | g.10142088_10142189del | CA3266346885 | VHL | c.241_340+2del | |
| 3 | g.10142091_10142106dup | CA2499216351 | VHL | c.244_259dup (p.Val87AlafsTer?) | ClinVar dbSNP |
| 3 | g.10142089_10142184del | CA3266346890 | VHL | c.242_337del (p.Pro81_Tyr112del) | |
| 3 | g.10142089_10142181del | CA3266346889 | VHL | c.242_334del (p.Pro81_Tyr112delinsHis) | |
| 3 | g.10142090_10142183del | CA3266346888 | VHL | c.243_336del (p.Arg82GlufsTer4) c.243_336del (p.Arg82GlufsTer?) c.243_336del (p.Arg82GlufsTer5) | |
| 3 | g.10142089_10142189del | CA3266346886 | VHL | c.242_340+2del | |
| 3 | g.10142092_10142188del | CA3266346891 | VHL | c.245_340+1del | |
| 3 | g.10142092_10142189del | CA3266346892 | VHL | c.245_340+2del | |
| 3 | g.10142099_10142107del | CA645524763 | VHL | c.252_260del (p.Leu85_Val87del) | COSMIC |