| 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.10141945_10141990delinsCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACT | CA1345065203 | VHL | c.98_143delinsCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACT (p.Ser33=) | |
| 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.10141988_10141991delinsACTG | CA1345065346 | VHL | c.141_144delinsACTG (p.Glu47=) | |
| 3 | g.10141989C>A | CA351748190 | VHL | c.142C>A (p.Leu48Met) | ClinVar gnomAD v4 |
| 3 | g.10141989C>G | CA351748186 | VHL | c.142C>G (p.Leu48Val) | dbSNP COSMIC |
| 3 | g.10141989C>T | CA432536352 | VHL | c.142C>T (p.Leu48=) | dbSNP |
| 3 | g.10141989_10141991del | CA432536351 | VHL | c.142_144del (p.Leu48del) | dbSNP |
| 3 | g.10141990T>A | CA351748198 | VHL | c.143T>A (p.Leu48Gln) | ClinVar dbSNP |
| 3 | g.10141990T>C | CA70042391 | VHL | c.143T>C (p.Leu48Pro) | dbSNP |
| 3 | g.10141990T>G | CA039460 | VHL | c.143T>G (p.Leu48Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10141990T= | CA1345065356 | VHL | c.143T= (p.Leu48=) | |
| 3 | g.10141990_10141992del | CA351748207 | VHL | c.143_145del (p.Leu48_Gly49delinsArg) | |
| 3 | g.10141991G>A | CA432536353 | VHL | c.144G>A (p.Leu48=) | dbSNP gnomAD v4 COSMIC |
| 3 | g.10141991G>C | CA432536354 | VHL | c.144G>C (p.Leu48=) | dbSNP gnomAD v2 |
| 3 | g.10141991G= | CA1345065361 | VHL | c.144G= (p.Leu48=) | |
| 3 | g.10141991G>T | CA432536355 | VHL | c.144G>T (p.Leu48=) | |
| 3 | g.10141992G>A | CA351748211 | VHL | c.145G>A (p.Gly49Ser) | dbSNP gnomAD v4 |
| 3 | g.10141992G>C | CA351748216 | VHL | c.145G>C (p.Gly49Arg) | ClinVar dbSNP |
| 3 | g.10141992G= | CA1345065365 | VHL | c.145G= (p.Gly49=) | |
| 3 | g.10141992G>T | CA351748217 | VHL | c.145G>T (p.Gly49Cys) | dbSNP COSMIC |
| 3 | g.10141993G>A | CA351748218 | VHL | c.146G>A (p.Gly49Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.10141993G>C | CA351748220 | VHL | c.146G>C (p.Gly49Ala) | |
| 3 | g.10141993G= | CA1345065369 | VHL | c.146G= (p.Gly49=) | |
| 3 | g.10141993G>T | CA351748222 | VHL | c.146G>T (p.Gly49Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141994C>A | CA432536356 | VHL | c.147C>A (p.Gly49=) | ClinVar gnomAD v4 |
| 3 | g.10141994C= | CA1345065374 | VHL | c.147C= (p.Gly49=) | |
| 3 | g.10141994C>G | CA432536357 | VHL | c.147C>G (p.Gly49=) | ClinVar |
| 3 | g.10141994C>T | CA432536358 | VHL | c.147C>T (p.Gly49=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10141995G>A | CA351748226 | VHL | c.148G>A (p.Ala50Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10141995G>C | CA351748241 | VHL | c.148G>C (p.Ala50Pro) | ClinVar dbSNP COSMIC |