| 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.10141873_10141890dup | CA2586965626 | VHL | c.26_43dup (p.Gly14_Ala15insAspGluAlaGluValGly) | |
| 3 | g.10141880_10141885dup | CA2580068384 | VHL | c.33_38dup (p.Val13_Gly14insGluVal) | ClinVar |
| 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.10141885T>A | CA351747165 | VHL | c.38T>A (p.Val13Glu) | dbSNP |
| 3 | g.10141885T>C | CA351747150 | VHL | c.38T>C (p.Val13Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141885T>G | CA351747163 | VHL | c.38T>G (p.Val13Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10141885T= | CA1345064951 | VHL | c.38T= (p.Val13=) | |
| 3 | g.10141886A= | CA1345064960 | VHL | c.39A= (p.Val13=) | |
| 3 | g.10141886A>C | CA432536163 | VHL | c.39A>C (p.Val13=) | ClinVar dbSNP |
| 3 | g.10141886A>G | CA70042206 | VHL | c.39A>G (p.Val13=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10141886A>T | CA432536164 | VHL | c.39A>T (p.Val13=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10141886_10141887delinsAG | CA1345064963 | VHL | c.39_40delinsAG (p.Val13=) | |
| 3 | g.10141886_10141891delinsAGGCGC | CA1345064964 | VHL | c.39_44delinsAGGCGC (p.Val13=) | |
| 3 | g.10141891_10141905dup | CA541213518 | VHL | c.44_58dup (p.Gly19_Val20insAlaGluGluAlaGly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10141887G>A | CA351747168 | VHL | c.40G>A (p.Gly14Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141887G>C | CA16611166 | VHL | c.40G>C (p.Gly14Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10141887G= | CA1345064969 | VHL | c.40G= (p.Gly14=) | |
| 3 | g.10141887G>T | CA351747172 | VHL | c.40G>T (p.Gly14Cys) | dbSNP gnomAD v4 |
| 3 | g.10141888del | CA1345064968 | VHL | c.41del (p.Gly14AlafsTer?) | dbSNP |
| 3 | g.10141889_10141893del | CA896158074 | VHL | c.42_46del (p.Ala15GlyfsTer10) | ClinVar dbSNP |
| 3 | g.10141892_10141951del | CA2664399904 | VHL | c.45_104del (p.Glu16_Ala35del) | gnomAD v4 |
| 3 | g.10141888G>A | CA351747177 | VHL | c.41G>A (p.Gly14Asp) | ClinVar dbSNP |
| 3 | g.10141888G>C | CA351747180 | VHL | c.41G>C (p.Gly14Ala) | |
| 3 | g.10141888G= | CA1345064973 | VHL | c.41G= (p.Gly14=) | |
| 3 | g.10141888G>T | CA351747183 | VHL | c.41G>T (p.Gly14Val) | gnomAD v4 |
| 3 | g.10141888_10141889insA | CA645524626 | VHL | c.41_42insA (p.Ala15ArgfsTer12) | COSMIC |
| 3 | g.10141889C>A | CA432536167 | VHL | c.42C>A (p.Gly14=) | ClinVar gnomAD v4 |
| 3 | g.10141889C= | CA1345064979 | VHL | c.42C= (p.Gly14=) | |
| 3 | g.10141889C>G | CA432536168 | VHL | c.42C>G (p.Gly14=) | ClinVar dbSNP |
| 3 | g.10141889C>T | CA432536170 | VHL | c.42C>T (p.Gly14=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141889_10141890insA | CA432536171 | VHL | c.42_43insA (p.Ala15SerfsTer12) | |
| 3 | g.10141890G>A | CA16611060 | VHL | c.43G>A (p.Ala15Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141890G>C | CA351747190 | VHL | c.43G>C (p.Ala15Pro) | dbSNP |