| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10141774_10142112dup | CA3266346847 | VHL | c.-74_265dup (p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAspProArgIleProArgArgProAlaArgValValTrpIleAlaGluGlyMetProArgArgAlaGluAsnTrpAspGluAlaGluValGlyAlaGluGluAlaGlyValGluGluTyrGlyProGluGluAspGlyGlyGluGluSerGlyAlaGluGluSerGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrp) | |
| 3 | g.10141774_10142062del | CA3266346840 | VHL | c.-74_215del | |
| 3 | g.10141773_10142082dup | CA3266346844 | VHL | c.-75_235dup (p.Arg79ProfsTer51) | |
| 3 | g.10141776_10142091dup | CA3266346841 | VHL | c.-72_244dup (p.Arg82HisfsTer50) | |
| 3 | g.10141774_10142117dup | CA3266346836 | VHL | c.-74_270dup (p.Phe91AlafsTer38) | |
| 3 | g.10141970_10142082dup | CA3266346853 | VHL | c.123_235dup (p.Arg79GlnfsTer26) | |
| 3 | g.10141970_10142088dup | CA3266346854 | VHL | c.123_241dup (p.Pro81GlnfsTer26) | |
| 3 | g.10142002_10142043del | CA645524632 | VHL | c.155_196del (p.Glu52_Ser65del) | COSMIC |
| 3 | g.10142001_10142055del | CA3266346858 | VHL | c.154_208del (p.Glu52SerfsTer?) | |
| 3 | g.10142002_10142051del | CA3266346860 | VHL | c.155_204del (p.Glu52AlafsTer?) | |
| 3 | g.10142001_10142061del | CA3266346859 | VHL | c.154_214del (p.Glu52ProfsTer?) | |
| 3 | g.10142008_10142116del | CA3266346865 | VHL | c.161_269del (p.Met54ThrfsTer27) c.161_269del (p.Met54ThrfsTer?) c.161_269del (p.Met54ThrfsTer28) | |
| 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.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.10142026_10142100del | CA3261045091 | VHL | c.179_253del (p.Arg60_Val84del) | |
| 3 | g.10142025_10142134del | CA645524667 | VHL | c.178_287del (p.Arg60AlafsTer?) | COSMIC |
| 3 | g.10142027_10142040del | CA2580068390 | VHL | c.180_193del (p.Pro61GlyfsTer?) | ClinVar dbSNP |
| 3 | g.10142028_10142078del | CA2573130331 | VHL | c.181_231del (p.Pro61_Cys77del) | |
| 3 | g.10142029_10142094del | CA3261045092 | VHL | c.182_247del (p.Pro61_Val83delinsLeu) | |
| 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_10142040delinsGC | CA645524674 | VHL | c.185_193delinsGC (p.Val62GlyfsTer3) | COSMIC |
| 3 | g.10142032_10142040delinsAGCA | CA2499306941 | VHL | c.185_193delinsAGCA (p.Val62GlufsTer?) | |
| 3 | g.10142036_10142040dup | CA2580068393 | VHL | c.189_193dup (p.Ser65CysfsTer4) | ClinVar dbSNP |
| 3 | g.10142033_10142046del | CA645524675 | VHL | c.186_199del (p.Arg64AlafsTer?) | COSMIC |
| 3 | g.10142034_10142035delinsTA | CA645524676 | VHL | c.187_188delinsTA (p.Leu63Ter) | COSMIC |
| 3 | g.10142036_10142049del | CA645524678 | VHL | c.189_202del (p.Arg64AlafsTer?) | COSMIC |
| 3 | g.10142035_10142120dup | CA3266346870 | VHL | c.188_273dup (p.Asp92CysfsTer4) | |
| 3 | g.10142035T>A | CA351748753 | VHL | c.188T>A (p.Leu63Gln) | ClinVar dbSNP |
| 3 | g.10142035T>C | CA020079 | VHL | c.188T>C (p.Leu63Pro) | ClinVar dbSNP |
| 3 | g.10142035T>G | CA351748749 | VHL | c.188T>G (p.Leu63Arg) | ClinVar dbSNP |
| 3 | g.10142035T= | CA1345065584 | VHL | c.188T= (p.Leu63=) | dbSNP |
| 3 | g.10142035_10142039delinsTGCGC | CA1345065585 | VHL | c.188_192delinsTGCGC (p.Leu63=) | |
| 3 | g.10142035_10142042del | CA891841802 | VHL | c.188_195del (p.Leu63ArgfsTer?) | |
| 3 | g.10142036G>A | CA432536389 | VHL | c.189G>A (p.Leu63=) | ClinVar dbSNP |
| 3 | g.10142036G>C | CA432536390 | VHL | c.189G>C (p.Leu63=) | |
| 3 | g.10142036G= | CA1345065592 | VHL | c.189G= (p.Leu63=) | dbSNP dbSNP |
| 3 | g.10142036G>T | CA432536391 | VHL | c.189G>T (p.Leu63=) | gnomAD v4 |
| 3 | g.10142036dup | CA658683297 | VHL | c.189dup (p.Arg64AlafsTer?) | ClinVar dbSNP |
| 3 | g.10142036_10142039del | CA357090 | VHL | c.189_192del (p.Ser65Ter) | ClinVar dbSNP |
| 3 | g.10142037C>A | CA351748769 | VHL | c.190C>A (p.Arg64Ser) | ClinVar dbSNP |
| 3 | g.10142037C= | CA1345065596 | VHL | c.190C= (p.Arg64=) | dbSNP |
| 3 | g.10142037C>G | CA351748773 | VHL | c.190C>G (p.Arg64Gly) | |
| 3 | g.10142037C>T | CA351748776 | VHL | c.190C>T (p.Arg64Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142037dup | CA2989079653 | VHL | c.190dup (p.Arg64ProfsTer?) | |
| 3 | g.10142039_10142121dup | CA3266346873 | VHL | c.192_274dup (p.Asp92AlafsTer3) |