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_10146636del | CA2581463475 | VHL | c.1_*140del c.1_600-3151del c.1_463del c.1_341-3151del c.1_*18-3151del | |
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.10142336_10142337insTCACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAG | CA2592313223 | VHL | c.340+149_340+150insTCACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAG (n.340+149_340+150insTCACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAG) | gnomAD v3 gnomAD v4 |
3 | g.10142308del | CA2664400496 | VHL | c.340+121del (n.340+121del) | gnomAD v4 |
3 | g.10142308C>A | CA2664400499 | VHL | c.340+121C>A (n.340+121C>A) | gnomAD v4 |
3 | g.10142309A= | CA1345066686 | VHL | c.340+122A= (n.340+122A=) | |
3 | g.10142309A>C | CA70046423 | VHL | c.340+122A>C (n.340+122A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142309A>G | CA2664400503 | VHL | c.340+122A>G (n.340+122A>G) | gnomAD v4 |
3 | g.10142310G>A | CA2664400504 | VHL | c.340+123G>A (n.340+123G>A) | gnomAD v4 |
3 | g.10142310G>C | CA1345066688 | VHL | c.340+123G>C (n.340+123G>C) | dbSNP gnomAD v4 |
3 | g.10142310G= | CA1345066687 | VHL | c.340+123G= (n.340+123G=) | |
3 | g.10142311G>T | CA2755195018 | VHL | c.340+124G>T (n.340+124G>T) | |
3 | g.10142312G>A | CA540875728 | VHL | c.340+125G>A (n.340+125G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142312G= | CA1345066689 | VHL | c.340+125G= (n.340+125G=) | |
3 | g.10142313T>G | CA1345066691 | VHL | c.340+126T>G (n.340+126T>G) | dbSNP |
3 | g.10142313T= | CA1345066690 | VHL | c.340+126T= (n.340+126T=) | |
3 | g.10142314G>A | CA2664400511 | VHL | c.340+127G>A (n.340+127G>A) | gnomAD v4 |
3 | g.10142314G>T | CA2664400512 | VHL | c.340+127G>T (n.340+127G>T) | gnomAD v4 |
3 | g.10142315A>C | CA2499960177 | VHL | c.340+128A>C (n.340+128A>C) | gnomAD v4 |
3 | g.10142316C>A | CA2664400514 | VHL | c.340+129C>A (n.340+129C>A) | gnomAD v4 |
3 | g.10142317G>A | CA1044995191 | VHL | c.340+130G>A (n.340+130G>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142317G= | CA1345066692 | VHL | c.340+130G= (n.340+130G=) | |
3 | g.10142317G>T | CA2664400517 | VHL | c.340+130G>T (n.340+130G>T) | gnomAD v4 |
3 | g.10142318C>A | CA2664400520 | VHL | c.340+131C>A (n.340+131C>A) | gnomAD v4 |
3 | g.10142318C>G | CA2664400522 | VHL | c.340+131C>G (n.340+131C>G) | gnomAD v4 |
3 | g.10142318C>T | CA2592313224 | VHL | c.340+131C>T (n.340+131C>T) | gnomAD v3 gnomAD v4 |
3 | g.10142319T>G | CA2664400524 | VHL | c.340+132T>G (n.340+132T>G) | gnomAD v4 |
3 | g.10142319_10142320insTACGA | CA2664400525 | VHL | c.340+132_340+133insTACGA (n.340+132_340+133insTACGA) | gnomAD v4 |
3 | g.10142319_10142320insTACGAGCA | CA2664400526 | VHL | c.340+132_340+133insTACGAGCA (n.340+132_340+133insTACGAGCA) | gnomAD v4 |
3 | g.10142320G>A | CA2519551776 | VHL | c.340+133G>A (n.340+133G>A) | |
3 | g.10142320G>T | CA2664400527 | VHL | c.340+133G>T (n.340+133G>T) | gnomAD v4 |
3 | g.10142321C>A | CA2664400528 | VHL | c.340+134C>A (n.340+134C>A) | gnomAD v4 |
3 | g.10142321C= | CA1345066693 | VHL | c.340+134C= (n.340+134C=) | |
3 | g.10142321C>G | CA2664400535 | VHL | c.340+134C>G (n.340+134C>G) | gnomAD v4 |
3 | g.10142321C>T | CA896159747 | VHL | c.340+134C>T (n.340+134C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142322T>A | CA2664400541 | VHL | c.340+135T>A (n.340+135T>A) | gnomAD v4 |
3 | g.10142322T>C | CA1345066695 | VHL | c.340+135T>C (n.340+135T>C) | dbSNP gnomAD v4 |