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.10142002_10142043del | CA645524632 | VHL | c.155_196del (p.Glu52_Ser65del) | COSMIC |
3 | g.10142010_10142039del | CA645524640 | VHL | c.163_192del (p.Glu55_Arg64del) | COSMIC |
3 | g.10142014_10142052del | CA645524649 | VHL | c.167_205del (p.Ala56_Arg69delinsGly) | COSMIC |
3 | g.10142016_10142034del | CA645524651 | VHL | c.169_187del (p.Gly57CysfsTer4) | COSMIC |
3 | g.10142021_10142038del | CA2573320481 | VHL | c.174_191del (p.Pro59_Arg64del) | |
3 | g.10142022_10142036delinsCCGCGGCCCGTGCTG | CA1345065505 | VHL | c.175_189delinsCCGCGGCCCGTGCTG (p.Pro59=) | |
3 | g.10142026_10142039del | CA16617784 | VHL | c.179_192del (p.Arg60LeufsTer?) | ClinVar dbSNP |
3 | g.10142027_10142055del | CA645524664 | VHL | c.180_208del (p.Pro61AlafsTer?) | COSMIC |
3 | g.10142025_10142134del | CA645524667 | VHL | c.178_287del (p.Arg60AlafsTer?) | COSMIC |
3 | g.10142027_10142040del | CA2580068390 | VHL | c.180_193del (p.Pro61GlyfsTer?) | ClinVar |
3 | g.10142028_10142078del | CA2573130331 | VHL | c.181_231del (p.Pro61_Cys77del) | |
3 | g.10142029_10142032del | CA658820712 | VHL | c.182_185del (p.Pro61ArgfsTer5) | |
3 | g.10142029_10142034delinsTTTT | CA645524668 | VHL | c.182_187delinsTTTT (p.Pro61LeufsTer?) | COSMIC |
3 | g.10142030_10142034del | CA645524669 | VHL | c.183_187del (p.Val62AlafsTer?) | COSMIC |
3 | g.10142031_10142034del | CA645524671 | VHL | c.184_187del (p.Val62CysfsTer4) | COSMIC |
3 | g.10142030_10142042del | CA645524670 | VHL | c.183_195del (p.Val62Ter) | COSMIC |
3 | g.10142032_10142042del | CA2496441928 | VHL | c.185_195del (p.Val62GlyfsTer?) | |
3 | g.10142032_10142033del | CA645524673 | VHL | c.185_186del (p.Val62AlafsTer?) | COSMIC |
3 | g.10142032T>A | CA351748739 | VHL | c.185T>A (p.Val62Glu) | ClinVar dbSNP |
3 | g.10142032T>C | CA351748743 | VHL | c.185T>C (p.Val62Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.10142032T>G | CA351748744 | VHL | c.185T>G (p.Val62Gly) | dbSNP |
3 | g.10142032T= | CA1345065578 | VHL | c.185T= (p.Val62=) | |
3 | g.10142032_10142040delinsGC | CA645524674 | VHL | c.185_193delinsGC (p.Val62GlyfsTer3) | COSMIC |
3 | g.10142032_10142040delinsAGCA | CA2499306941 | VHL | c.185_193delinsAGCA (p.Val62GlufsTer?) | |
3 | g.10142033G>A | CA432536386 | VHL | c.186G>A (p.Val62=) | |
3 | g.10142033G>C | CA432536385 | VHL | c.186G>C (p.Val62=) | gnomAD v4 |
3 | g.10142033G>T | CA432536384 | VHL | c.186G>T (p.Val62=) | gnomAD v4 |
3 | g.10142033_10142034delinsTT | CA2499216349 | VHL | c.186_187delinsTT (p.Val62=) | ClinVar dbSNP |
3 | g.10142036_10142040dup | CA2580068393 | VHL | c.189_193dup (p.Ser65CysfsTer4) | ClinVar |
3 | g.10142033_10142046del | CA645524675 | VHL | c.186_199del (p.Arg64AlafsTer?) | COSMIC |
3 | g.10142034del | CA432536388 | VHL | c.187del (p.Leu63CysfsTer4) | COSMIC |
3 | g.10142034C>A | CA351748745 | VHL | c.187C>A (p.Leu63Met) | gnomAD v4 |
3 | g.10142034C>G | CA351748746 | VHL | c.187C>G (p.Leu63Val) | gnomAD v4 |
3 | g.10142034C>T | CA432536387 | VHL | c.187C>T (p.Leu63=) | ClinVar gnomAD v4 |