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.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.10142121_10142139delinsGACGGCGAGCCGCAGCCCT | CA1345066109 | VHL | c.274_292delinsGACGGCGAGCCGCAGCCCT (p.Asp92=) | |
3 | g.10142124_10142141del | CA891843321 | VHL | c.277_294del (p.Gly93_Tyr98del) | ClinVar dbSNP |
3 | g.10142129_10142144del | CA645524800 | VHL | c.282_297del (p.Pro95ArgfsTer17) c.282_297del (p.Pro95ArgfsTer?) c.282_297del (p.Pro95ArgfsTer18) | COSMIC |
3 | g.10142134_10142154del | CA2573106190 | VHL | c.287_307del (p.Gln96_Pro102del) | |
3 | g.10142130_10142144del | CA645524807 | VHL | c.283_297del (p.Pro95_Pro99del) | COSMIC |
3 | g.10142135_10142141delinsGCCCTAC | CA1345066214 | VHL | c.288_294delinsGCCCTAC (p.Gln96=) | |
3 | g.10142136_10142140delinsCCCTA | CA1345066219 | VHL | c.289_293delinsCCCTA (p.Pro97=) | |
3 | g.10142139_10142143del | CA645524818 | VHL | c.292_296del (p.Tyr98AsnfsTer?) | COSMIC |
3 | g.10142138_10142143del | CA915941835 | VHL | c.291_296del (p.Tyr98_Pro99del) | ClinVar dbSNP |
3 | g.10142137_10142146del | CA645524817 | VHL | c.290_299del (p.Pro97ArgfsTer17) c.290_299del (p.Pro97ArgfsTer?) c.290_299del (p.Pro97ArgfsTer18) | COSMIC |
3 | g.10142139_10142142del | CA913189504 | VHL | c.292_295del (p.Tyr98GlnfsTer18) c.292_295del (p.Tyr98GlnfsTer?) c.292_295del (p.Tyr98GlnfsTer19) | ClinVar dbSNP |
3 | g.10142137_10142149delinsCCTACCCAACGCT | CA1345066230 | VHL | c.290_302delinsCCTACCCAACGCT (p.Pro97=) | |
3 | g.10142138_10142139delinsAC | CA2740090907 | VHL | c.291_292delinsAC (p.Tyr98His) | ClinVar |
3 | g.10142138_10142149del | CA915941836 | VHL | c.291_302del (p.Tyr98_Leu101del) | ClinVar dbSNP |
3 | g.10142138_10142157del | CA645524819 | VHL | c.291_310del (p.Tyr98HisfsTer?) c.291_310del (p.Tyr98HisfsTer27) c.291_310del (p.Tyr98HisfsTer28) | COSMIC |
3 | g.10142139T>A | CA351750883 | VHL | c.292T>A (p.Tyr98Asn) | ClinVar dbSNP COSMIC |
3 | g.10142139T>C | CA020246 | VHL | c.292T>C (p.Tyr98His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142139T>G | CA351750880 | VHL | c.292T>G (p.Tyr98Asp) | COSMIC |
3 | g.10142139T= | CA1345066250 | VHL | c.292T= (p.Tyr98=) | |
3 | g.10142140del | CA432420516 | VHL | c.293del (p.Tyr98SerfsTer19) c.293del (p.Tyr98SerfsTer?) c.293del (p.Tyr98SerfsTer20) | COSMIC |
3 | g.10142140A= | CA1345066267 | VHL | c.293A= (p.Tyr98=) | |
3 | g.10142140A>C | CA279916 | VHL | c.293A>C (p.Tyr98Ser) | ClinVar dbSNP COSMIC |
3 | g.10142140A>G | CA357072 | VHL | c.293A>G (p.Tyr98Cys) | ClinVar dbSNP COSMIC |
3 | g.10142140A>T | CA351750888 | VHL | c.293A>T (p.Tyr98Phe) | COSMIC |
3 | g.10142140dup | CA357009 | VHL | c.293dup (p.Tyr98Ter) | ClinVar dbSNP |
3 | g.10142141C>A | CA351750889 | VHL | c.294C>A (p.Tyr98Ter) | gnomAD v4 COSMIC |
3 | g.10142141C= | CA1345066277 | VHL | c.294C= (p.Tyr98=) | |
3 | g.10142141C>G | CA16621910 | VHL | c.294C>G (p.Tyr98Ter) | ClinVar dbSNP COSMIC |
3 | g.10142141C>T | CA432420517 | VHL | c.294C>T (p.Tyr98=) | ClinVar dbSNP gnomAD v4 |
3 | g.10142143dup | CA357055 | VHL | c.296dup (p.Thr100AsnfsTer?) | ClinVar dbSNP |
3 | g.10142143del | CA432420518 | VHL | c.296del (p.Pro99GlnfsTer18) c.296del (p.Pro99GlnfsTer?) c.296del (p.Pro99GlnfsTer19) | COSMIC COSMIC |
3 | g.10142143_10142155del | CA658655621 | VHL | c.296_308del (p.Pro99LeufsTer14) c.296_308del (p.Pro99LeufsTer?) c.296_308del (p.Pro99LeufsTer15) |