| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10133799_10141895del | CA16043394 | ClinVar | ||
| 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.10141860_10141878dup | CA432536126 | VHL | c.13_31dup (p.Ala11GlyfsTer22) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10141863_10141881dup | CA16617778 | VHL | c.16_34dup (p.Glu12GlyfsTer21) | ClinVar dbSNP |
| 3 | g.10141871_10141881dup | CA2664399903 | VHL | c.24_34dup (p.Glu12GlyfsTer6) | gnomAD v4 |
| 3 | g.10141873_10141890dup | CA2586965626 | VHL | c.26_43dup (p.Gly14_Ala15insAspGluAlaGluValGly) | |
| 3 | g.10141876A= | CA1345064904 | VHL | c.29A= (p.Glu10=) | |
| 3 | g.10141876A>C | CA351747093 | VHL | c.29A>C (p.Glu10Ala) | ClinVar |
| 3 | g.10141876A>G | CA351747095 | VHL | c.29A>G (p.Glu10Gly) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10141876A>T | CA020251 | VHL | c.29A>T (p.Glu10Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141877G>A | CA432536155 | VHL | c.30G>A (p.Glu10=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10141877G>C | CA70042189 | VHL | c.30G>C (p.Glu10Asp) | ClinVar dbSNP |
| 3 | g.10141877G= | CA1345064914 | VHL | c.30G= (p.Glu10=) | |
| 3 | g.10141877G>T | CA16611059 | VHL | c.30G>T (p.Glu10Asp) | ClinVar dbSNP gnomAD v2 |
| 3 | g.10141878G>A | CA351747099 | VHL | c.31G>A (p.Ala11Thr) | COSMIC |
| 3 | g.10141878G>C | CA351747101 | VHL | c.31G>C (p.Ala11Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10141878G= | CA1345064919 | VHL | c.31G= (p.Ala11=) | |
| 3 | g.10141878G>T | CA351747111 | VHL | c.31G>T (p.Ala11Ser) | ClinVar dbSNP |
| 3 | g.10141879C>A | CA351747116 | VHL | c.32C>A (p.Ala11Asp) | dbSNP gnomAD v4 |
| 3 | g.10141879C>G | CA351747119 | VHL | c.32C>G (p.Ala11Gly) | dbSNP gnomAD v4 |
| 3 | g.10141879C>T | CA351747124 | VHL | c.32C>T (p.Ala11Val) | dbSNP gnomAD v4 |
| 3 | g.10141880C>A | CA432536158 | VHL | c.33C>A (p.Ala11=) | gnomAD v4 |
| 3 | g.10141880C= | CA1345064923 | VHL | c.33C= (p.Ala11=) | |
| 3 | g.10141880C>G | CA040357 | VHL | c.33C>G (p.Ala11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10141880C>T | CA432536159 | VHL | c.33C>T (p.Ala11=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141880_10141885dup | CA2580068384 | VHL | c.33_38dup (p.Val13_Gly14insGluVal) | ClinVar |
| 3 | g.10141881G>A | CA351747129 | VHL | c.34G>A (p.Glu12Lys) | dbSNP gnomAD v4 COSMIC |
| 3 | g.10141881G>C | CA16617779 | VHL | c.34G>C (p.Glu12Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10141881G= | CA1345064929 | VHL | c.34G= (p.Glu12=) | |
| 3 | g.10141881G>T | CA351747132 | VHL | c.34G>T (p.Glu12Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10141881_10141882delinsGA | CA1345064926 | VHL | c.34_35delinsGA (p.Glu12=) | |
| 3 | g.10141881_10141882delinsTT | CA1139655721 | VHL | c.34_35delinsTT (p.Glu12Leu) | ClinVar dbSNP |
| 3 | g.10141885_10141899dup | CA2573136079 | VHL | c.38_52dup (p.Glu17_Ala18insValGlyAlaGluGlu) | ClinVar dbSNP |
| 3 | g.10141885_10141899del | CA2499216348 | VHL | c.38_52del (p.Val13_Glu17del) | ClinVar dbSNP |
| 3 | g.10141882A= | CA1345064931 | VHL | c.35A= (p.Glu12=) | |
| 3 | g.10141882A>C | CA351747134 | VHL | c.35A>C (p.Glu12Ala) | gnomAD v4 |