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.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.10141960_10142004del | CA2664399907 | VHL | c.113_157del (p.Ser38Ter) | gnomAD v4 |
3 | g.10141982_10142005delinsGGAGGAACTGGGCGCCGAGGAGGA | CA1345065328 | VHL | c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA (p.Pro45=) | |
3 | g.10141985_10142007del | CA896158519 | VHL | c.138_160del (p.Glu46AspfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142004_10142006del | CA2580614138 | VHL | c.157_159del (p.Glu53del) | ClinVar |
3 | g.10142001_10142013del | CA645524631 | VHL | c.154_166del (p.Glu52ProfsTer11) | COSMIC |
3 | g.10142002_10142043del | CA645524632 | VHL | c.155_196del (p.Glu52_Ser65del) | COSMIC |
3 | g.10142003G>A | CA432536361 | VHL | c.156G>A (p.Glu52=) | ClinVar dbSNP gnomAD v4 |
3 | g.10142003G>C | CA351748384 | VHL | c.156G>C (p.Glu52Asp) | |
3 | g.10142003G>T | CA351748373 | VHL | c.156G>T (p.Glu52Asp) | |
3 | g.10142004_10142010del | CA645524633 | VHL | c.157_163del (p.Glu53ArgfsTer12) | COSMIC |
3 | g.10142004G>A | CA351748391 | VHL | c.157G>A (p.Glu53Lys) | dbSNP |
3 | g.10142004G>C | CA351748398 | VHL | c.157G>C (p.Glu53Gln) | |
3 | g.10142004G>T | CA351748408 | VHL | c.157G>T (p.Glu53Ter) | dbSNP |
3 | g.10142005A>C | CA351748426 | VHL | c.158A>C (p.Glu53Ala) | |
3 | g.10142005A>G | CA351748429 | VHL | c.158A>G (p.Glu53Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.10142005A>T | CA351748434 | VHL | c.158A>T (p.Glu53Val) | dbSNP |
3 | g.10142006G>A | CA432536362 | VHL | c.159G>A (p.Glu53=) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142006G>C | CA351748444 | VHL | c.159G>C (p.Glu53Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.10142006G= | CA1345065410 | VHL | c.159G= (p.Glu53=) | |
3 | g.10142006G>T | CA351748440 | VHL | c.159G>T (p.Glu53Asp) | gnomAD v4 |
3 | g.10142007_10142016del | CA645524634 | VHL | c.160_169del (p.Met54GlyfsTer10) | COSMIC |
3 | g.10142007_10142021del | CA645524635 | VHL | c.160_174del (p.Met54_Arg58del) | COSMIC |
3 | g.10142007del | CA2586965629 | VHL | c.160del (p.Met54TrpfsTer13) | |
3 | g.10142007A= | CA1345065415 | VHL | c.160A= (p.Met54=) | |
3 | g.10142007A>C | CA351748450 | VHL | c.160A>C (p.Met54Leu) | |
3 | g.10142007A>G | CA351748453 | VHL | c.160A>G (p.Met54Val) | gnomAD v4 |
3 | g.10142007A>T | CA351748458 | VHL | c.160A>T (p.Met54Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.10142007_10142008del | CA913189210 | VHL | c.160_161del (p.Met54GlyfsTer?) | |
3 | g.10142007_10142019del | CA645524637 | VHL | c.160_172del (p.Met54GlyfsTer9) | COSMIC |
3 | g.10142007_10142022del | CA645524636 | VHL | c.160_175del (p.Met54ArgfsTer8) | COSMIC |
3 | g.10142008del | CA645524638 | VHL | c.161del (p.Met54ArgfsTer13) | COSMIC |
3 | g.10142008T>A | CA351748466 | VHL | c.161T>A (p.Met54Lys) |