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.10141922_10141981del | CA2664399905 | VHL | c.75_134del (p.Glu26_Pro45del) | gnomAD v4 |
3 | g.10141930_10141975delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC | CA1345065141 | VHL | c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC (p.Asp28=) | |
3 | g.10141935_10141979del | CA541213519 | VHL | c.88_132del (p.Gly30_Gly44del) | dbSNP gnomAD v2 gnomAD v4 |
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.10141970_10141984dup | CA541213522 | VHL | c.123_137dup (p.Glu46_Glu47insGluSerGlyProGlu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141970_10141984del | CA039321 | VHL | c.123_137del (p.Glu42_Glu46del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141960_10142004del | CA2664399907 | VHL | c.113_157del (p.Ser38Ter) | gnomAD v4 |
3 | g.10141970_10141973del | CA2573136081 | VHL | c.123_126del (p.Glu41AspfsTer25) | ClinVar dbSNP |
3 | g.10141971G>A | CA351747955 | VHL | c.124G>A (p.Glu42Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10141971G>C | CA351747976 | VHL | c.124G>C (p.Glu42Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.10141971G= | CA1345065294 | VHL | c.124G= (p.Glu42=) | |
3 | g.10141971G>T | CA351747958 | VHL | c.124G>T (p.Glu42Ter) | gnomAD v4 |
3 | g.10141972A= | CA1345065298 | VHL | c.125A= (p.Glu42=) | |
3 | g.10141972A>C | CA16617782 | VHL | c.125A>C (p.Glu42Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.10141972A>G | CA351747982 | VHL | c.125A>G (p.Glu42Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.10141972A>T | CA351747985 | VHL | c.125A>T (p.Glu42Val) | COSMIC |
3 | g.10141973del | CA16602177 | VHL | c.126del (p.Glu42AspfsTer25) | |
3 | g.10141973G>A | CA432536341 | VHL | c.126G>A (p.Glu42=) | |
3 | g.10141973G>C | CA351747990 | VHL | c.126G>C (p.Glu42Asp) | ClinVar gnomAD v4 |
3 | g.10141973G>T | CA351747994 | VHL | c.126G>T (p.Glu42Asp) | |
3 | g.10141974T>A | CA351747998 | VHL | c.127T>A (p.Ser43Thr) | dbSNP gnomAD v4 |
3 | g.10141974T>C | CA351748001 | VHL | c.127T>C (p.Ser43Pro) | ClinVar dbSNP gnomAD v4 |
3 | g.10141974T>G | CA351748006 | VHL | c.127T>G (p.Ser43Ala) | dbSNP |
3 | g.10141974T= | CA1345065301 | VHL | c.127T= (p.Ser43=) | |
3 | g.10141975C>A | CA70042349 | VHL | c.128C>A (p.Ser43Tyr) | ClinVar dbSNP gnomAD v4 |
3 | g.10141975C= | CA1345065302 | VHL | c.128C= (p.Ser43=) | |
3 | g.10141975C>G | CA351748024 | VHL | c.128C>G (p.Ser43Cys) | ClinVar dbSNP |
3 | g.10141975C>T | CA351748026 | VHL | c.128C>T (p.Ser43Phe) | dbSNP COSMIC |
3 | g.10141976C>A | CA432536342 | VHL | c.129C>A (p.Ser43=) | gnomAD v4 |
3 | g.10141976C= | CA1345065304 | VHL | c.129C= (p.Ser43=) | |
3 | g.10141976C>G | CA432536343 | VHL | c.129C>G (p.Ser43=) | ClinVar dbSNP |
3 | g.10141976C>T | CA350263 | VHL | c.129C>T (p.Ser43=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141977G>A | CA351748044 | VHL | c.130G>A (p.Gly44Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.10141977G>C | CA351748058 | VHL | c.130G>C (p.Gly44Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.10141977G= | CA1345065308 | VHL | c.130G= (p.Gly44=) | |
3 | g.10141977G>T | CA351748054 | VHL | c.130G>T (p.Gly44Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.10141978del | CA16602178 | VHL | c.131del (p.Gly44AlafsTer23) | |
3 | g.10141978G>A | CA70042374 | VHL | c.131G>A (p.Gly44Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10141978G>C | CA351748061 | VHL | c.131G>C (p.Gly44Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.10141978G= | CA1345065311 | VHL | c.131G= (p.Gly44=) | |
3 | g.10141978G>T | CA351748065 | VHL | c.131G>T (p.Gly44Val) | ClinVar dbSNP gnomAD v4 |
3 | g.10141979C>A | CA432536344 | VHL | c.132C>A (p.Gly44=) | dbSNP gnomAD v4 |
3 | g.10141979C= | CA1345065314 | VHL | c.132C= (p.Gly44=) | |
3 | g.10141979C>G | CA432536346 | VHL | c.132C>G (p.Gly44=) | ClinVar dbSNP |
3 | g.10141979C>T | CA432536345 | VHL | c.132C>T (p.Gly44=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141980C>A | CA351748068 | VHL | c.133C>A (p.Pro45Thr) | dbSNP gnomAD v4 |
3 | g.10141980C= | CA1345065319 | VHL | c.133C= (p.Pro45=) | |
3 | g.10141980C>G | CA351748071 | VHL | c.133C>G (p.Pro45Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.10141980C>T | CA351748076 | VHL | c.133C>T (p.Pro45Ser) | ClinVar COSMIC |
3 | g.10141981_10141982insAGTTCCTCCGGGCCGGACTCTTCCGGGCC | CA2573136082 | VHL | c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC (p.Glu46ValfsTer31) | ClinVar dbSNP |
3 | g.10141981C>A | CA351748077 | VHL | c.134C>A (p.Pro45Gln) | dbSNP gnomAD v4 |
3 | g.10141981C= | CA1345065324 | VHL | c.134C= (p.Pro45=) | |
3 | g.10141981C>G | CA039433 | VHL | c.134C>G (p.Pro45Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141981C>T | CA70042375 | VHL | c.134C>T (p.Pro45Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141982G>A | CA039449 | VHL | c.135G>A (p.Pro45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141982G>C | CA432536347 | VHL | c.135G>C (p.Pro45=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141982G= | CA1345065329 | VHL | c.135G= (p.Pro45=) | |
3 | g.10141982G>T | CA432536348 | VHL | c.135G>T (p.Pro45=) | ClinVar gnomAD v4 |
3 | g.10141982_10142005delinsGGAGGAACTGGGCGCCGAGGAGGA | CA1345065328 | VHL | c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA (p.Pro45=) | |
3 | g.10141983G>A | CA351748088 | VHL | c.136G>A (p.Glu46Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.10141983G>C | CA351748093 | VHL | c.136G>C (p.Glu46Gln) | |
3 | g.10141983G= | CA1345065336 | VHL | c.136G= (p.Glu46=) | |
3 | g.10141983G>T | CA351748085 | VHL | c.136G>T (p.Glu46Ter) | |
3 | g.10141985_10142007del | CA896158519 | VHL | c.138_160del (p.Glu46AspfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10141984A>C | CA351748098 | VHL | c.137A>C (p.Glu46Ala) | ClinVar gnomAD v4 |
3 | g.10141984A>G | CA351748110 | VHL | c.137A>G (p.Glu46Gly) | dbSNP gnomAD v4 |
3 | g.10141984A>T | CA351748113 | VHL | c.137A>T (p.Glu46Val) | dbSNP |
3 | g.10141985G>A | CA432536349 | VHL | c.138G>A (p.Glu46=) | dbSNP gnomAD v4 |
3 | g.10141985G>C | CA351748124 | VHL | c.138G>C (p.Glu46Asp) | |
3 | g.10141985G>T | CA351748127 | VHL | c.138G>T (p.Glu46Asp) | ClinVar |
3 | g.10141986G>A | CA351748134 | VHL | c.139G>A (p.Glu47Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141986G>C | CA351748138 | VHL | c.139G>C (p.Glu47Gln) | gnomAD v4 |
3 | g.10141986G= | CA1345065342 | VHL | c.139G= (p.Glu47=) | |
3 | g.10141986G>T | CA351748143 | VHL | c.139G>T (p.Glu47Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.10141986_10141988delinsAAG | CA645524630 | VHL | c.139_141delinsAAG (p.Glu47Lys) | COSMIC |
3 | g.10141986_10141988delinsAAT | CA645524629 | VHL | c.139_141delinsAAT (p.Glu47Asn) | COSMIC |
3 | g.10141987A>C | CA351748154 | VHL | c.140A>C (p.Glu47Ala) | |
3 | g.10141987A>G | CA351748156 | VHL | c.140A>G (p.Glu47Gly) | dbSNP |
3 | g.10141987A>T | CA351748164 | VHL | c.140A>T (p.Glu47Val) | |
3 | g.10141988A= | CA1345065345 | VHL | c.141A= (p.Glu47=) | |
3 | g.10141988A>C | CA351748173 | VHL | c.141A>C (p.Glu47Asp) | dbSNP |
3 | g.10141988A>G | CA432536350 | VHL | c.141A>G (p.Glu47=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141988A>T | CA351748179 | VHL | c.141A>T (p.Glu47Asp) | dbSNP |
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 |
3 | g.10141995G= | CA1345065378 | VHL | c.148G= (p.Ala50=) | |
3 | g.10141995G>T | CA351748246 | VHL | c.148G>T (p.Ala50Ser) | gnomAD v4 |
3 | g.10141996C>A | CA351748264 | VHL | c.149C>A (p.Ala50Asp) | gnomAD v4 |
3 | g.10141996C= | CA1345065385 | VHL | c.149C= (p.Ala50=) | |
3 | g.10141996C>G | CA351748259 | VHL | c.149C>G (p.Ala50Gly) | ClinVar dbSNP COSMIC |
3 | g.10141996C>T | CA039477 | VHL | c.149C>T (p.Ala50Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.10141997C>A | CA10582112 | VHL | c.150C>A (p.Ala50=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141997C= | CA1345065389 | VHL | c.150C= (p.Ala50=) | |
3 | g.10141997C>G | CA020051 | VHL | c.150C>G (p.Ala50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141997C>T | CA432536359 | VHL | c.150C>T (p.Ala50=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10141998G>A | CA351748278 | VHL | c.151G>A (p.Glu51Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141998G>C | CA351748282 | VHL | c.151G>C (p.Glu51Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10141998G= | CA1345065396 | VHL | c.151G= (p.Glu51=) | |
3 | g.10141998G>T | CA351748286 | VHL | c.151G>T (p.Glu51Ter) | dbSNP gnomAD v4 COSMIC |
3 | g.10142004_10142006del | CA2580614138 | VHL | c.157_159del (p.Glu53del) | ClinVar |
3 | g.10141999A>C | CA351748293 | VHL | c.152A>C (p.Glu51Ala) | |
3 | g.10141999A>G | CA351748306 | VHL | c.152A>G (p.Glu51Gly) | |
3 | g.10141999A>T | CA351748311 | VHL | c.152A>T (p.Glu51Val) | |
3 | g.10142000G>A | CA432536360 | VHL | c.153G>A (p.Glu51=) | gnomAD v4 |
3 | g.10142000G>C | CA351748318 | VHL | c.153G>C (p.Glu51Asp) | gnomAD v4 |
3 | g.10142000G>T | CA351748328 | VHL | c.153G>T (p.Glu51Asp) | gnomAD v4 |
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.10142001G>A | CA020056 | VHL | c.154G>A (p.Glu52Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10142001G>C | CA351748337 | VHL | c.154G>C (p.Glu52Gln) | dbSNP |
3 | g.10142001G= | CA1345065401 | VHL | c.154G= (p.Glu52=) | |
3 | g.10142001G>T | CA020061 | VHL | c.154G>T (p.Glu52Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142002A>C | CA351748344 | VHL | c.155A>C (p.Glu52Ala) | |
3 | g.10142002A>G | CA351748359 | VHL | c.155A>G (p.Glu52Gly) | dbSNP gnomAD v4 |
3 | g.10142002A>T | CA351748368 | VHL | c.155A>T (p.Glu52Val) | |
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) | |
3 | g.10142008T>C | CA351748468 | VHL | c.161T>C (p.Met54Thr) | ClinVar dbSNP |
3 | g.10142008T>G | CA351748469 | VHL | c.161T>G (p.Met54Arg) | ClinVar |
3 | g.10142008T= | CA1345065421 | VHL | c.161T= (p.Met54=) | |
3 | g.10142008dup | CA2497028723 | VHL | c.161dup (p.Met54IlefsTer?) | |
3 | g.10142008_10142009delinsTG | CA1345065424 | VHL | c.161_162delinsTG (p.Met54=) | |
3 | g.10142009G>A | CA351748478 | VHL | c.162G>A (p.Met54Ile) | ClinVar dbSNP |
3 | g.10142009G>C | CA351748485 | VHL | c.162G>C (p.Met54Ile) | |
3 | g.10142009G>T | CA351748488 | VHL | c.162G>T (p.Met54Ile) | |
3 | g.10142010dup | CA357082 | VHL | c.163dup (p.Glu55GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
3 | g.10142010del | CA432536363 | VHL | c.163del (p.Glu55ArgfsTer12) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.10142009_10142013del | CA645524639 | VHL | c.162_166del (p.Met54IlefsTer?) | COSMIC |
3 | g.10142011_10142018dup | CA10602889 | VHL | c.164_171dup (p.Arg60GlyfsTer10) | ClinVar dbSNP |
3 | g.10142009_10142010insT | CA2499307063 | VHL | c.162_163insT (p.Glu55Ter) | |
3 | g.10142010G>A | CA351748489 | VHL | c.163G>A (p.Glu55Lys) | dbSNP |
3 | g.10142010G>C | CA351748491 | VHL | c.163G>C (p.Glu55Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.10142010G>T | CA351748495 | VHL | c.163G>T (p.Glu55Ter) | COSMIC |
3 | g.10142011_10142012del | CA645524641 | VHL | c.164_165del (p.Glu55GlyfsTer?) | COSMIC |
3 | g.10142010_10142039del | CA645524640 | VHL | c.163_192del (p.Glu55_Arg64del) | COSMIC |
3 | g.10142011del | CA645524642 | VHL | c.164del (p.Glu55GlyfsTer12) | COSMIC |
3 | g.10142011A= | CA1345065438 | VHL | c.164A= (p.Glu55=) | |
3 | g.10142011A>C | CA351748507 | VHL | c.164A>C (p.Glu55Ala) | |
3 | g.10142011A>G | CA351748514 | VHL | c.164A>G (p.Glu55Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.10142011A>T | CA351748518 | VHL | c.164A>T (p.Glu55Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142011dup | CA658795187 | VHL | c.164dup (p.Ala56GlyfsTer?) | |
3 | g.10142012G>A | CA432536364 | VHL | c.165G>A (p.Glu55=) | ClinVar dbSNP gnomAD v4 |
3 | g.10142012G>C | CA351748530 | VHL | c.165G>C (p.Glu55Asp) | |
3 | g.10142012G= | CA1345065445 | VHL | c.165G= (p.Glu55=) | |
3 | g.10142012G>T | CA351748533 | VHL | c.165G>T (p.Glu55Asp) | gnomAD v4 |
3 | g.10142013dup | CA645524645 | VHL | c.166dup (p.Ala56GlyfsTer?) | COSMIC COSMIC |
3 | g.10142013del | CA432536365 | VHL | c.166del (p.Ala56ProfsTer11) | COSMIC |
3 | g.10142015_10142019del | CA645524643 | VHL | c.168_172del (p.Gly57AlafsTer?) | COSMIC |
3 | g.10142017_10142024del | CA645524644 | VHL | c.170_177del (p.Gly57AlafsTer?) | ClinVar COSMIC COSMIC |
3 | g.10142012_10142013insA | CA645524648 | VHL | c.165_166insA (p.Ala56SerfsTer?) | COSMIC |
3 | g.10142013G>A | CA351748538 | VHL | c.166G>A (p.Ala56Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142013G>C | CA351748541 | VHL | c.166G>C (p.Ala56Pro) | |
3 | g.10142013G= | CA1345065449 | VHL | c.166G= (p.Ala56=) | |
3 | g.10142013G>T | CA351748548 | VHL | c.166G>T (p.Ala56Ser) | gnomAD v4 |
3 | g.10142014_10142020del | CA645524646 | VHL | c.167_173del (p.Ala56GlyfsTer9) | COSMIC |
3 | g.10142014_10142026del | CA645524647 | VHL | c.167_179del (p.Ala56GlyfsTer7) | COSMIC |
3 | g.10142013_10142014insA | CA432536366 | VHL | c.166_167insA (p.Ala56AspfsTer?) | |
3 | g.10142014C>A | CA039553 | VHL | c.167C>A (p.Ala56Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142014C= | CA1345065457 | VHL | c.167C= (p.Ala56=) | |
3 | g.10142014C>G | CA039566 | VHL | c.167C>G (p.Ala56Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142014C>T | CA020064 | VHL | c.167C>T (p.Ala56Val) | ClinVar dbSNP gnomAD v4 |
3 | g.10142014_10142052del | CA645524649 | VHL | c.167_205del (p.Ala56_Arg69delinsGly) | COSMIC |
3 | g.10142014_10142015insA | CA916084344 | VHL | c.167_168insA (p.Gly57ArgfsTer?) | |
3 | g.10142015C>A | CA432536367 | VHL | c.168C>A (p.Ala56=) | ClinVar dbSNP gnomAD v4 |
3 | g.10142015C= | CA1345065468 | VHL | c.168C= (p.Ala56=) | |
3 | g.10142015C>G | CA348969 | VHL | c.168C>G (p.Ala56=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142015C>T | CA16611168 | VHL | c.168C>T (p.Ala56=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142018_10142021del | CA645524653 | VHL | c.171_174del (p.Pro59GlyfsTer7) | COSMIC |
3 | g.10142018_10142027del | CA645524652 | VHL | c.171_180del (p.Arg58ProfsTer6) | COSMIC |
3 | g.10142015_10142031del | CA645524650 | VHL | c.168_184del (p.Gly57AlafsTer?) | COSMIC |
3 | g.10142016_10142034del | CA645524651 | VHL | c.169_187del (p.Gly57CysfsTer4) | COSMIC |
3 | g.10142016G>A | CA351748598 | VHL | c.169G>A (p.Gly57Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.10142016G>C | CA16617783 | VHL | c.169G>C (p.Gly57Arg) | ClinVar dbSNP |
3 | g.10142016G= | CA1345065473 | VHL | c.169G= (p.Gly57=) | |
3 | g.10142016G>T | CA351748610 | VHL | c.169G>T (p.Gly57Trp) | ClinVar dbSNP gnomAD v4 |
3 | g.10142018del | CA432536368 | VHL | c.171del (p.Arg58GlyfsTer9) | COSMIC COSMIC |
3 | g.10142017G>A | CA351748614 | VHL | c.170G>A (p.Gly57Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.10142017G>C | CA351748619 | VHL | c.170G>C (p.Gly57Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.10142017G= | CA1345065478 | VHL | c.170G= (p.Gly57=) | |
3 | g.10142017G>T | CA039599 | VHL | c.170G>T (p.Gly57Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142017_10142022dup | CA2664399908 | VHL | c.170_175dup (p.Arg58_Pro59insArgArg) | gnomAD v4 |
3 | g.10142018_10142024del | CA645524654 | VHL | c.171_177del (p.Arg58GlyfsTer7) | COSMIC |
3 | g.10142018G>A | CA432536369 | VHL | c.171G>A (p.Gly57=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142018G>C | CA432536370 | VHL | c.171G>C (p.Gly57=) | ClinVar dbSNP COSMIC |
3 | g.10142018G= | CA1345065483 | VHL | c.171G= (p.Gly57=) | |
3 | g.10142018G>T | CA039611 | VHL | c.171G>T (p.Gly57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142018delinsCCGGCCGGC | CA645524655 | VHL | c.171delinsCCGGCCGGC (p.Arg60AlafsTer10) | COSMIC |
3 | g.10142024_10142029dup | CA1044994897 | VHL | c.177_182dup (p.Pro61_Val62insArgPro) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142024_10142029del | CA2701984727 | VHL | c.177_182del (p.Arg60_Pro61del) | dbSNP |
3 | g.10142021_10142038del | CA2573320481 | VHL | c.174_191del (p.Pro59_Arg64del) | |
3 | g.10142019C>A | CA039628 | VHL | c.172C>A (p.Arg58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.10142019C= | CA1345065491 | VHL | c.172C= (p.Arg58=) | |
3 | g.10142019C>G | CA351748632 | VHL | c.172C>G (p.Arg58Gly) | dbSNP |
3 | g.10142019C>T | CA039640 | VHL | c.172C>T (p.Arg58Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10142019_10142020delinsTA | CA645524656 | VHL | c.172_173delinsTA (p.Arg58Ter) | COSMIC |
3 | g.10142021_10142024del | CA645524658 | VHL | c.174_177del (p.Pro59GlyfsTer7) | COSMIC |
3 | g.10142020_10142029del | CA645524657 | VHL | c.173_182del (p.Arg58ProfsTer6) | COSMIC |
3 | g.10142020G>A | CA351748642 | VHL | c.173G>A (p.Arg58Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.10142020G>C | CA351748641 | VHL | c.173G>C (p.Arg58Pro) | |
3 | g.10142020G= | CA1345065495 | VHL | c.173G= (p.Arg58=) | |
3 | g.10142020G>T | CA351748640 | VHL | c.173G>T (p.Arg58Leu) | |
3 | g.10142021_10142027del | CA645524659 | VHL | c.174_180del (p.Arg60CysfsTer5) | COSMIC |
3 | g.10142020_10142021insC | CA658795188 | VHL | c.173_174insC (p.Pro59AlafsTer?) | |
3 | g.10142021G>A | CA432536371 | VHL | c.174G>A (p.Arg58=) | ClinVar dbSNP gnomAD v4 |
3 | g.10142021G>C | CA432536372 | VHL | c.174G>C (p.Arg58=) | ClinVar |
3 | g.10142021G>T | CA432536373 | VHL | c.174G>T (p.Arg58=) | gnomAD v4 |
3 | g.10142022C>A | CA351748647 | VHL | c.175C>A (p.Pro59Thr) | |
3 | g.10142022C= | CA1345065507 | VHL | c.175C= (p.Pro59=) | |
3 | g.10142022C>G | CA351748652 | VHL | c.175C>G (p.Pro59Ala) | dbSNP |
3 | g.10142022C>T | CA10578179 | VHL | c.175C>T (p.Pro59Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.10142023del | CA432536374 | VHL | c.176del (p.Pro59ArgfsTer8) | COSMIC |
3 | g.10142022_10142024delinsTC | CA645524662 | VHL | c.175_177delinsTC (p.Pro59SerfsTer8) | COSMIC |
3 | g.10142022_10142030del | CA645524661 | VHL | c.175_183del (p.Pro59_Pro61del) | COSMIC |
3 | g.10142025_10142031del | CA645524660 | VHL | c.178_184del (p.Arg60CysfsTer5) | COSMIC |
3 | g.10142022_10142036delinsCCGCGGCCCGTGCTG | CA1345065505 | VHL | c.175_189delinsCCGCGGCCCGTGCTG (p.Pro59=) | |
3 | g.10142023C>A | CA351748654 | VHL | c.176C>A (p.Pro59Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.10142023C= | CA1345065513 | VHL | c.176C= (p.Pro59=) | |
3 | g.10142023C>G | CA351748658 | VHL | c.176C>G (p.Pro59Arg) | dbSNP |
3 | g.10142023C>T | CA351748662 | VHL | c.176C>T (p.Pro59Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.10142025_10142026del | CA645524663 | VHL | c.178_179del (p.Arg60AlafsTer?) | COSMIC |
3 | g.10142026_10142039del | CA16617784 | VHL | c.179_192del (p.Arg60LeufsTer?) | ClinVar dbSNP |
3 | g.10142027_10142055del | CA645524664 | VHL | c.180_208del (p.Pro61AlafsTer?) | COSMIC |
3 | g.10142024G>A | CA432536377 | VHL | c.177G>A (p.Pro59=) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142024G>C | CA432536375 | VHL | c.177G>C (p.Pro59=) | dbSNP |
3 | g.10142024G>T | CA432536376 | VHL | c.177G>T (p.Pro59=) | gnomAD v4 |
3 | g.10142025C>A | CA432536378 | VHL | c.178C>A (p.Arg60=) | gnomAD v4 |
3 | g.10142025C= | CA1345065523 | VHL | c.178C= (p.Arg60=) | |
3 | g.10142025C>G | CA16611061 | VHL | c.178C>G (p.Arg60Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142025C>T | CA351748669 | VHL | c.178C>T (p.Arg60Trp) | ClinVar dbSNP COSMIC |
3 | g.10142025_10142026delinsCG | CA1345065521 | VHL | c.178_179delinsCG (p.Arg60=) | |
3 | g.10142026_10142029del | CA645524666 | VHL | c.179_182del (p.Arg60ProfsTer6) | ClinVar COSMIC COSMIC |
3 | g.10142027_10142031del | CA645524665 | VHL | c.180_184del (p.Pro61AlafsTer?) | COSMIC |
3 | g.10142025_10142134del | CA645524667 | VHL | c.178_287del (p.Arg60AlafsTer?) | COSMIC |
3 | g.10142026G>A | CA351748670 | VHL | c.179G>A (p.Arg60Gln) | dbSNP |
3 | g.10142026G>C | CA351748672 | VHL | c.179G>C (p.Arg60Pro) | ClinVar dbSNP |
3 | g.10142026G= | CA1345065533 | VHL | c.179G= (p.Arg60=) | |
3 | g.10142026G>T | CA351748673 | VHL | c.179G>T (p.Arg60Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.10142027del | CA020069 | VHL | c.180del (p.Val62CysfsTer5) | ClinVar dbSNP COSMIC |
3 | g.10142027G>A | CA432536379 | VHL | c.180G>A (p.Arg60=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142027G>C | CA432536380 | VHL | c.180G>C (p.Arg60=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142027G= | CA1345065540 | VHL | c.180G= (p.Arg60=) | |
3 | g.10142027G>T | CA432536381 | VHL | c.180G>T (p.Arg60=) | ClinVar gnomAD v4 |
3 | g.10142027_10142028delinsGC | CA1345065538 | VHL | c.180_181delinsGC (p.Arg60=) | |
3 | g.10142027_10142040del | CA2580068390 | VHL | c.180_193del (p.Pro61GlyfsTer?) | ClinVar |
3 | g.10142028C>A | CA351748689 | VHL | c.181C>A (p.Pro61Thr) | gnomAD v4 |
3 | g.10142028C= | CA1345065546 | VHL | c.181C= (p.Pro61=) | |
3 | g.10142028C>G | CA10582113 | VHL | c.181C>G (p.Pro61Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.10142028C>T | CA16611261 | VHL | c.181C>T (p.Pro61Ser) | ClinVar dbSNP gnomAD v2 |
3 | g.10142030dup | CA2586965632 | VHL | c.183dup (p.Val62ArgfsTer?) | |
3 | g.10142030del | CA70042461 | VHL | c.183del (p.Val62CysfsTer5) | dbSNP COSMIC COSMIC |
3 | g.10142029_10142030del | CA2740090905 | VHL | c.182_183del (p.Pro61ArgfsTer?) | ClinVar |
3 | g.10142028_10142078del | CA2573130331 | VHL | c.181_231del (p.Pro61_Cys77del) | |
3 | g.10142029C>A | CA351748716 | VHL | c.182C>A (p.Pro61His) | dbSNP |
3 | g.10142029C= | CA1345065551 | VHL | c.182C= (p.Pro61=) | |
3 | g.10142029C>G | CA351748722 | VHL | c.182C>G (p.Pro61Arg) | ClinVar dbSNP |
3 | g.10142029C>T | CA039669 | VHL | c.182C>T (p.Pro61Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142029_10142032del | CA658820712 | VHL | c.182_185del (p.Pro61ArgfsTer5) | |
3 | g.10142029_10142034delinsTTTT | CA645524668 | VHL | c.182_187delinsTTTT (p.Pro61LeufsTer?) | COSMIC |
3 | g.10142030_10142034del | CA645524669 | VHL | c.183_187del (p.Val62AlafsTer?) | COSMIC |
3 | g.10142030C>A | CA432536382 | VHL | c.183C>A (p.Pro61=) | ClinVar dbSNP gnomAD v4 |
3 | g.10142030C= | CA1345065560 | VHL | c.183C= (p.Pro61=) | |
3 | g.10142030C>G | CA020075 | VHL | c.183C>G (p.Pro61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10142030C>T | CA039705 | VHL | c.183C>T (p.Pro61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10142031_10142034del | CA645524671 | VHL | c.184_187del (p.Val62CysfsTer4) | COSMIC |
3 | g.10142030_10142042del | CA645524670 | VHL | c.183_195del (p.Val62Ter) | COSMIC |
3 | g.10142032_10142042del | CA2496441928 | VHL | c.185_195del (p.Val62GlyfsTer?) | |
3 | g.10142031del | CA432536383 | VHL | c.184del (p.Val62CysfsTer5) | ClinVar COSMIC |
3 | g.10142031G>A | CA039721 | VHL | c.184G>A (p.Val62Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142031G>C | CA351748731 | VHL | c.184G>C (p.Val62Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142031G= | CA1345065572 | VHL | c.184G= (p.Val62=) | |
3 | g.10142031G>T | CA351748734 | VHL | c.184G>T (p.Val62Leu) | gnomAD v4 |
3 | g.10142031_10142032insCCCTGCTGCGCTGCGGTGAG | CA645524672 | VHL | c.184_185insCCCTGCTGCGCTGCGGTGAG (p.Val62AlafsTer12) | COSMIC |
3 | g.10142032_10142033del | CA645524673 | VHL | c.185_186del (p.Val62AlafsTer?) | COSMIC |
3 | g.10142032T>A | CA351748739 | VHL | c.185T>A (p.Val62Glu) | ClinVar dbSNP |
3 | g.10142032T>C | CA351748743 | VHL | c.185T>C (p.Val62Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.10142032T>G | CA351748744 | VHL | c.185T>G (p.Val62Gly) | dbSNP |
3 | g.10142032T= | CA1345065578 | VHL | c.185T= (p.Val62=) | |
3 | g.10142032_10142040delinsGC | CA645524674 | VHL | c.185_193delinsGC (p.Val62GlyfsTer3) | COSMIC |
3 | g.10142032_10142040delinsAGCA | CA2499306941 | VHL | c.185_193delinsAGCA (p.Val62GlufsTer?) | |
3 | g.10142033G>A | CA432536386 | VHL | c.186G>A (p.Val62=) | |
3 | g.10142033G>C | CA432536385 | VHL | c.186G>C (p.Val62=) | gnomAD v4 |
3 | g.10142033G>T | CA432536384 | VHL | c.186G>T (p.Val62=) | gnomAD v4 |
3 | g.10142033_10142034delinsTT | CA2499216349 | VHL | c.186_187delinsTT (p.Val62=) | ClinVar dbSNP |
3 | g.10142036_10142040dup | CA2580068393 | VHL | c.189_193dup (p.Ser65CysfsTer4) | ClinVar |
3 | g.10142033_10142046del | CA645524675 | VHL | c.186_199del (p.Arg64AlafsTer?) | COSMIC |
3 | g.10142034del | CA432536388 | VHL | c.187del (p.Leu63CysfsTer4) | COSMIC |
3 | g.10142034C>A | CA351748745 | VHL | c.187C>A (p.Leu63Met) | gnomAD v4 |
3 | g.10142034C>G | CA351748746 | VHL | c.187C>G (p.Leu63Val) | gnomAD v4 |
3 | g.10142034C>T | CA432536387 | VHL | c.187C>T (p.Leu63=) | ClinVar gnomAD v4 |
3 | g.10142034dup | CA645524677 | VHL | c.187dup (p.Leu63ProfsTer?) | COSMIC |
3 | g.10142034_10142035delinsTA | CA645524676 | VHL | c.187_188delinsTA (p.Leu63Ter) | COSMIC |
3 | g.10142036_10142049del | CA645524678 | VHL | c.189_202del (p.Arg64AlafsTer?) | COSMIC |
3 | g.10142035T>A | CA351748753 | VHL | c.188T>A (p.Leu63Gln) | ClinVar dbSNP |
3 | g.10142035T>C | CA020079 | VHL | c.188T>C (p.Leu63Pro) | ClinVar dbSNP |
3 | g.10142035T>G | CA351748749 | VHL | c.188T>G (p.Leu63Arg) | ClinVar dbSNP |
3 | g.10142035T= | CA1345065584 | VHL | c.188T= (p.Leu63=) | |
3 | g.10142035_10142039delinsTGCGC | CA1345065585 | VHL | c.188_192delinsTGCGC (p.Leu63=) | |
3 | g.10142035_10142042del | CA891841802 | VHL | c.188_195del (p.Leu63ArgfsTer?) | |
3 | g.10142036G>A | CA432536389 | VHL | c.189G>A (p.Leu63=) | ClinVar dbSNP |
3 | g.10142036G>C | CA432536390 | VHL | c.189G>C (p.Leu63=) | |
3 | g.10142036G= | CA1345065592 | VHL | c.189G= (p.Leu63=) | |
3 | g.10142036G>T | CA432536391 | VHL | c.189G>T (p.Leu63=) | gnomAD v4 |
3 | g.10142036dup | CA658683297 | VHL | c.189dup (p.Arg64AlafsTer?) | ClinVar dbSNP |
3 | g.10142036_10142039del | CA357090 | VHL | c.189_192del (p.Ser65Ter) | ClinVar dbSNP |
3 | g.10142037C>A | CA351748769 | VHL | c.190C>A (p.Arg64Ser) | ClinVar dbSNP |
3 | g.10142037C= | CA1345065596 | VHL | c.190C= (p.Arg64=) | |
3 | g.10142037C>G | CA351748773 | VHL | c.190C>G (p.Arg64Gly) | |
3 | g.10142037C>T | CA351748776 | VHL | c.190C>T (p.Arg64Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142038G>A | CA020083 | VHL | c.191G>A (p.Arg64His) | ClinVar dbSNP gnomAD v4 |
3 | g.10142038G>C | CA020089 | VHL | c.191G>C (p.Arg64Pro) | ClinVar dbSNP COSMIC |
3 | g.10142038G= | CA1345065602 | VHL | c.191G= (p.Arg64=) | |
3 | g.10142038G>T | CA351748781 | VHL | c.191G>T (p.Arg64Leu) | gnomAD v4 |
3 | g.10142038dup | CA2580068395 | VHL | c.191dup (p.Ser65LeufsTer?) | ClinVar |
3 | g.10142038_10142039delinsGC | CA1345065605 | VHL | c.191_192delinsGC (p.Arg64=) | |
3 | g.10142039_10142045del | CA645524679 | VHL | c.192_198del (p.Ser65ThrfsTer?) | COSMIC |
3 | g.10142039del | CA020094 | VHL | c.192del (p.Ser65ArgfsTer2) | ClinVar dbSNP COSMIC |
3 | g.10142039C>A | CA432536392 | VHL | c.192C>A (p.Arg64=) | gnomAD v4 |
3 | g.10142039C= | CA1345065611 | VHL | c.192C= (p.Arg64=) | |
3 | g.10142039C>G | CA432536393 | VHL | c.192C>G (p.Arg64=) | dbSNP |
3 | g.10142039C>T | CA16604426 | VHL | c.192C>T (p.Arg64=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142043_10142051del | CA645524680 | VHL | c.196_204del (p.Val66_Ser68del) | COSMIC |
3 | g.10142040del | CA432536394 | VHL | c.193del (p.Ser65ArgfsTer2) | COSMIC |
3 | g.10142040T>A | CA351748794 | VHL | c.193T>A (p.Ser65Thr) | ClinVar dbSNP COSMIC |
3 | g.10142040T>C | CA351748798 | VHL | c.193T>C (p.Ser65Pro) | ClinVar dbSNP COSMIC |
3 | g.10142040T>G | CA357048 | VHL | c.193T>G (p.Ser65Ala) | ClinVar dbSNP COSMIC |
3 | g.10142040T= | CA1345065618 | VHL | c.193T= (p.Ser65=) | |
3 | g.10142040_10142041delinsCA | CA645524681 | VHL | c.193_194delinsCA (p.Ser65Gln) | COSMIC |
3 | g.10142041del | CA432536395 | VHL | c.194del (p.Ser65TrpfsTer2) | COSMIC |
3 | g.10142041C>A | CA357085 | VHL | c.194C>A (p.Ser65Ter) | ClinVar dbSNP COSMIC |
3 | g.10142041C= | CA1345065628 | VHL | c.194C= (p.Ser65=) | |
3 | g.10142041C>G | CA020099 | VHL | c.194C>G (p.Ser65Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142041C>T | CA020104 | VHL | c.194C>T (p.Ser65Leu) | ClinVar dbSNP gnomAD v2 COSMIC |
3 | g.10142041_10142042delinsAA | CA645524682 | VHL | c.194_195delinsAA (p.Ser65Ter) | COSMIC |
3 | g.10142042G>A | CA432536399 | VHL | c.195G>A (p.Ser65=) | dbSNP gnomAD v4 COSMIC |
3 | g.10142042G>C | CA432536398 | VHL | c.195G>C (p.Ser65=) | ClinVar dbSNP COSMIC |
3 | g.10142042G= | CA1345065635 | VHL | c.195G= (p.Ser65=) | |
3 | g.10142042G>T | CA432536397 | VHL | c.195G>T (p.Ser65=) | dbSNP gnomAD v4 |
3 | g.10142043dup | CA645524684 | VHL | c.196dup (p.Val66GlyfsTer?) | COSMIC |
3 | g.10142043del | CA432536396 | VHL | c.196del (p.Val66Ter) | COSMIC COSMIC |
3 | g.10142043_10142045del | CA645524683 | VHL | c.196_198del (p.Val66del) | COSMIC |
3 | g.10142045_10142068del | CA645524685 | VHL | c.198_221del (p.Asn67_Val74del) | COSMIC |
3 | g.10142043G>A | CA351748808 | VHL | c.196G>A (p.Val66Met) | ClinVar dbSNP gnomAD v4 |
3 | g.10142043G>C | CA351748814 | VHL | c.196G>C (p.Val66Leu) | dbSNP |
3 | g.10142043G= | CA1345065639 | VHL | c.196G= (p.Val66=) | |
3 | g.10142043G>T | CA351748813 | VHL | c.196G>T (p.Val66Leu) | gnomAD v4 |
3 | g.10142044del | CA432536400 | VHL | c.197del (p.Val66GlyfsTer?) | COSMIC |
3 | g.10142044T>A | CA351748815 | VHL | c.197T>A (p.Val66Glu) | |
3 | g.10142044T>C | CA351748818 | VHL | c.197T>C (p.Val66Ala) | dbSNP |
3 | g.10142044T>G | CA16621911 | VHL | c.197T>G (p.Val66Gly) | dbSNP gnomAD v4 |
3 | g.10142044_10142046del | CA645524687 | VHL | c.197_199del (p.Val66_Asn67delinsAsp) | COSMIC |
3 | g.10142044_10142056del | CA2497028944 | VHL | c.197_209del (p.Val66GlyfsTer?) | |
3 | g.10142044_10142058delinsCTCGTG | CA645524686 | VHL | c.197_211delinsCTCGTG (p.Val66_Pro71delinsAlaArgAla) | COSMIC |
3 | g.10142045_10142061del | CA645524688 | VHL | c.198_214del (p.Asn67ProfsTer?) | COSMIC |
3 | g.10142044_10142068del | CA2573130203 | VHL | c.197_221del (p.Val66AlafsTer?) | |
3 | g.10142045G>A | CA432536402 | VHL | c.198G>A (p.Val66=) | ClinVar dbSNP |
3 | g.10142045G>C | CA432536403 | VHL | c.198G>C (p.Val66=) | |
3 | g.10142045G>T | CA432536404 | VHL | c.198G>T (p.Val66=) | |
3 | g.10142045dup | CA432536401 | VHL | c.198dup (p.Asn67GlufsTer?) | COSMIC |
3 | g.10142045_10142046insT | CA432536406 | VHL | c.198_199insT (p.Asn67Ter) | |
3 | g.10142046A= | CA1345065645 | VHL | c.199A= (p.Asn67=) | |
3 | g.10142046A>C | CA16617785 | VHL | c.199A>C (p.Asn67His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142046A>G | CA351748828 | VHL | c.199A>G (p.Asn67Asp) | dbSNP |
3 | g.10142046A>T | CA351748830 | VHL | c.199A>T (p.Asn67Tyr) | |
3 | g.10142047del | CA432536405 | VHL | c.200del (p.Asn67ThrfsTer?) | COSMIC COSMIC |
3 | g.10142046_10142058del | CA645524689 | VHL | c.199_211del (p.Asn67ProfsTer?) | COSMIC |
3 | g.10142047A>C | CA351748831 | VHL | c.200A>C (p.Asn67Thr) | ClinVar dbSNP |
3 | g.10142047A>G | CA351748835 | VHL | c.200A>G (p.Asn67Ser) | ClinVar COSMIC |
3 | g.10142047A>T | CA351748837 | VHL | c.200A>T (p.Asn67Ile) | dbSNP |
3 | g.10142048del | CA432536407 | VHL | c.201del (p.Ser68ArgfsTer?) | COSMIC |
3 | g.10142048C>A | CA351748855 | VHL | c.201C>A (p.Asn67Lys) | ClinVar dbSNP |
3 | g.10142048C= | CA1345065649 | VHL | c.201C= (p.Asn67=) | |
3 | g.10142048C>G | CA039757 | VHL | c.201C>G (p.Asn67Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142048C>T | CA70042498 | VHL | c.201C>T (p.Asn67=) | ClinVar dbSNP gnomAD v4 |
3 | g.10142048dup | CA2842635430 | VHL | c.201dup (p.Ser68LeufsTer?) | |
3 | g.10142048_10142050delinsG | CA645524691 | VHL | c.201_203delinsG (p.Asn67LysfsTer?) | COSMIC |
3 | g.10142048_10142053delinsA | CA645524690 | VHL | c.201_206delinsA (p.Asn67LysfsTer?) | COSMIC |
3 | g.10142049T>A | CA351748880 | VHL | c.202T>A (p.Ser68Thr) | COSMIC |
3 | g.10142049T>C | CA16621912 | VHL | c.202T>C (p.Ser68Pro) | ClinVar COSMIC |
3 | g.10142049T>G | CA351748869 | VHL | c.202T>G (p.Ser68Ala) | |
3 | g.10142050C>A | CA357051 | VHL | c.203C>A (p.Ser68Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142050C= | CA1345065661 | VHL | c.203C= (p.Ser68=) | |
3 | g.10142050C>G | CA351748895 | VHL | c.203C>G (p.Ser68Trp) | dbSNP |
3 | g.10142050C>T | CA351748894 | VHL | c.203C>T (p.Ser68Leu) | ClinVar dbSNP COSMIC |
3 | g.10142050dup | CA645524695 | VHL | c.203dup (p.Arg69AlafsTer?) | COSMIC |
3 | g.10142050_10142051delinsAA | CA645524696 | VHL | c.203_204delinsAA (p.Ser68Ter) | COSMIC |
3 | g.10142054_10142055dup | CA645524692 | VHL | c.207_208dup (p.Glu70AlafsTer?) | ClinVar COSMIC |
3 | g.10142054_10142055del | CA645524693 | VHL | c.207_208del (p.Glu70AlafsTer?) | COSMIC COSMIC |
3 | g.10142052_10142055del | CA645524694 | VHL | c.205_208del (p.Arg69SerfsTer?) | COSMIC |
3 | g.10142051del | CA432536408 | VHL | c.204del (p.Arg69AlafsTer?) | COSMIC |
3 | g.10142051G>A | CA432536410 | VHL | c.204G>A (p.Ser68=) | ClinVar dbSNP COSMIC |
3 | g.10142051G>C | CA039785 | VHL | c.204G>C (p.Ser68=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142051G= | CA1345065669 | VHL | c.204G= (p.Ser68=) | |
3 | g.10142051G>T | CA432536409 | VHL | c.204G>T (p.Ser68=) | ClinVar dbSNP gnomAD v4 |
3 | g.10142051dup | CA913189244 | VHL | c.204dup (p.Arg69AlafsTer?) | ClinVar |
3 | g.10142052del | CA432536412 | VHL | c.205del (p.Arg69AlafsTer?) | COSMIC |
3 | g.10142052C>A | CA351748921 | VHL | c.205C>A (p.Arg69Ser) | gnomAD v4 |
3 | g.10142052C= | CA1345065673 | VHL | c.205C= (p.Arg69=) | |
3 | g.10142052C>G | CA351748904 | VHL | c.205C>G (p.Arg69Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142052C>T | CA351748924 | VHL | c.205C>T (p.Arg69Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142052dup | CA432536411 | VHL | c.205dup (p.Arg69ProfsTer?) | |
3 | g.10142052_10142054del | CA645524697 | VHL | c.205_207del (p.Arg69del) | COSMIC |
3 | g.10142053G>A | CA351748928 | VHL | c.206G>A (p.Arg69His) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142053G>C | CA351748937 | VHL | c.206G>C (p.Arg69Pro) | dbSNP |
3 | g.10142053G= | CA1345065683 | VHL | c.206G= (p.Arg69=) | |
3 | g.10142053G>T | CA351748931 | VHL | c.206G>T (p.Arg69Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.10142053dup | CA658655754 | VHL | c.206dup (p.Glu70ArgfsTer?) | ClinVar dbSNP |
3 | g.10142053_10142055del | CA645524698 | VHL | c.206_208del (p.Arg69_Glu70delinsGln) | COSMIC |
3 | g.10142054del | CA432536415 | VHL | c.207del (p.Glu70SerfsTer?) | COSMIC |
3 | g.10142054C>A | CA432536413 | VHL | c.207C>A (p.Arg69=) | gnomAD v4 |
3 | g.10142054C= | CA1345065686 | VHL | c.207C= (p.Arg69=) | |
3 | g.10142054C>G | CA432536414 | VHL | c.207C>G (p.Arg69=) | ClinVar dbSNP |
3 | g.10142054C>T | CA16611062 | VHL | c.207C>T (p.Arg69=) | ClinVar dbSNP |
3 | g.10142056_10142090del | CA645524699 | VHL | c.209_243del (p.Glu70AlafsTer?) | COSMIC |
3 | g.10142055del | CA432536416 | VHL | c.208del (p.Glu70SerfsTer?) | COSMIC |
3 | g.10142055G>A | CA020108 | VHL | c.208G>A (p.Glu70Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142055G>C | CA351748955 | VHL | c.208G>C (p.Glu70Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.10142055G= | CA1345065695 | VHL | c.208G= (p.Glu70=) | |
3 | g.10142055G>T | CA16602179 | VHL | c.208G>T (p.Glu70Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142056_10142057del | CA645524700 | VHL | c.209_210del (p.Glu70AlafsTer?) | COSMIC |
3 | g.10142055_10142067del | CA645524701 | VHL | c.208_220del (p.Glu70SerfsTer?) | COSMIC |
3 | g.10142056del | CA432536417 | VHL | c.209del (p.Glu70GlyfsTer?) | COSMIC |
3 | g.10142056A= | CA1345065706 | VHL | c.209A= (p.Glu70=) | |
3 | g.10142056A>C | CA351748957 | VHL | c.209A>C (p.Glu70Ala) | ClinVar dbSNP |
3 | g.10142056A>G | CA020113 | VHL | c.209A>G (p.Glu70Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142056A>T | CA351748982 | VHL | c.209A>T (p.Glu70Val) | ClinVar dbSNP |
3 | g.10142056_10142061del | CA645524702 | VHL | c.209_214del (p.Glu70_Ser72delinsAla) | COSMIC |
3 | g.10142057_10142079del | CA2586965637 | VHL | c.210_232del (p.Pro71SerfsTer?) | |
3 | g.10142057del | CA2573320434 | VHL | c.210del (p.Glu70AspfsTer?) | |
3 | g.10142057G>A | CA432536418 | VHL | c.210G>A (p.Glu70=) | dbSNP |
3 | g.10142057G>C | CA351748998 | VHL | c.210G>C (p.Glu70Asp) | ClinVar dbSNP |
3 | g.10142057G= | CA1345065709 | VHL | c.210G= (p.Glu70=) | |
3 | g.10142057G>T | CA351749002 | VHL | c.210G>T (p.Glu70Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.10142057_10142060dup | CA2573048346 | VHL | c.210_213dup (p.Ser72AlafsTer?) | |
3 | g.10142059_10142084dup | CA645524703 | VHL | c.212_237dup (p.Ser80ProfsTer?) | COSMIC |
3 | g.10142057_10142058insT | CA2586965638 | VHL | c.210_211insT (p.Pro71SerfsTer?) | |
3 | g.10142058C>A | CA351749006 | VHL | c.211C>A (p.Pro71Thr) | gnomAD v4 |
3 | g.10142058C= | CA1345065716 | VHL | c.211C= (p.Pro71=) | |
3 | g.10142058C>G | CA351749010 | VHL | c.211C>G (p.Pro71Ala) | |
3 | g.10142058C>T | CA351749014 | VHL | c.211C>T (p.Pro71Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.10142059_10142060dup | CA2580068397 | VHL | c.212_213dup (p.Ser72ProfsTer?) | ClinVar |
3 | g.10142060del | CA432536419 | VHL | c.213del (p.Ser72ProfsTer?) | ClinVar COSMIC COSMIC |
3 | g.10142058_10142070del | CA645524704 | VHL | c.211_223del (p.Pro71SerfsTer?) | COSMIC |
3 | g.10142059_10142072del | CA645524705 | VHL | c.212_225del (p.Pro71LeufsTer?) | COSMIC |
3 | g.10142058_10142059insT | CA2501268513 | VHL | c.211_212insT (p.Pro71LeufsTer?) | |
3 | g.10142059C>A | CA351749025 | VHL | c.212C>A (p.Pro71His) | |
3 | g.10142059C>G | CA351749022 | VHL | c.212C>G (p.Pro71Arg) | gnomAD v4 COSMIC |
3 | g.10142059C>T | CA351749021 | VHL | c.212C>T (p.Pro71Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.10142061_10142063del | CA2580068398 | VHL | c.214_216del (p.Ser72del) | ClinVar |
3 | g.10142060C>A | CA432536420 | VHL | c.213C>A (p.Pro71=) | dbSNP |
3 | g.10142060C= | CA1345065721 | VHL | c.213C= (p.Pro71=) | |
3 | g.10142060C>G | CA432536421 | VHL | c.213C>G (p.Pro71=) | ClinVar dbSNP gnomAD v4 |
3 | g.10142060C>T | CA039814 | VHL | c.213C>T (p.Pro71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10142060_10142079del | CA645524706 | VHL | c.213_232del (p.Val74SerfsTer?) | COSMIC |
3 | g.10142061del | CA658795180 | VHL | c.214del (p.Ser72ProfsTer?) | |
3 | g.10142061T>A | CA351749057 | VHL | c.214T>A (p.Ser72Thr) | |
3 | g.10142061T>C | CA357006 | VHL | c.214T>C (p.Ser72Pro) | ClinVar dbSNP COSMIC |
3 | g.10142061T>G | CA351749070 | VHL | c.214T>G (p.Ser72Ala) | |
3 | g.10142061T= | CA1345065726 | VHL | c.214T= (p.Ser72=) | |
3 | g.10142061dup | CA645524707 | VHL | c.214dup (p.Ser72PhefsTer?) | COSMIC |
3 | g.10142061_10142062insGCCC | CA2499307076 | VHL | c.214_215insGCCC (p.Ser72CysfsTer?) | |
3 | g.10142062C>A | CA351749076 | VHL | c.215C>A (p.Ser72Tyr) | gnomAD v4 |
3 | g.10142062C= | CA1345065734 | VHL | c.215C= (p.Ser72=) | |
3 | g.10142062C>G | CA351749077 | VHL | c.215C>G (p.Ser72Cys) | gnomAD v4 |
3 | g.10142062C>T | CA70042512 | VHL | c.215C>T (p.Ser72Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142064dup | CA2497030271 | VHL | c.217dup (p.Gln73ProfsTer?) | |
3 | g.10142063_10142064dup | CA645524708 | VHL | c.216_217dup (p.Gln73ProfsTer?) | COSMIC COSMIC |
3 | g.10142064del | CA432536422 | VHL | c.217del (p.Gln73ArgfsTer?) | COSMIC COSMIC |
3 | g.10142063_10142064del | CA645524710 | VHL | c.216_217del (p.Gln73GlyfsTer?) | COSMIC |
3 | g.10142062_10142106del | CA645524709 | VHL | c.215_259del (p.Ser72_Val87delinsLeu) | COSMIC |
3 | g.10142062_10142063insT | CA432536425 | VHL | c.215_216insT (p.Gln73ProfsTer?) | |
3 | g.10142063C>A | CA432536423 | VHL | c.216C>A (p.Ser72=) | ClinVar dbSNP COSMIC |
3 | g.10142063C= | CA1345065740 | VHL | c.216C= (p.Ser72=) | |
3 | g.10142063C>G | CA432536424 | VHL | c.216C>G (p.Ser72=) | |
3 | g.10142063C>T | CA039823 | VHL | c.216C>T (p.Ser72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142063_10142064delinsAT | CA645524711 | VHL | c.216_217delinsAT (p.Ser73Ter) | COSMIC |
3 | g.10142063_10142064delinsTAT | CA2586965639 | VHL | c.216_217delinsTAT (p.Gln73IlefsTer?) | |
3 | g.10142064C>A | CA351749082 | VHL | c.217C>A (p.Gln73Lys) | gnomAD v4 COSMIC |
3 | g.10142064C= | CA1345065750 | VHL | c.217C= (p.Gln73=) | |
3 | g.10142064C>G | CA70042515 | VHL | c.217C>G (p.Gln73Glu) | ClinVar dbSNP gnomAD v4 |
3 | g.10142064C>T | CA357036 | VHL | c.217C>T (p.Gln73Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142066_10142079del | CA2497423672 | VHL | c.219_232del (p.Val74SerfsTer?) | |
3 | g.10142067_10142086dup | CA645524712 | VHL | c.220_239dup (p.Ser80ArgfsTer?) | COSMIC |
3 | g.10142065del | CA432536427 | VHL | c.218del (p.Gln73ArgfsTer?) | COSMIC |
3 | g.10142065A= | CA1345065763 | VHL | c.218A= (p.Gln73=) | |
3 | g.10142065A>C | CA351749144 | VHL | c.218A>C (p.Gln73Pro) | |
3 | g.10142065A>G | CA351749128 | VHL | c.218A>G (p.Gln73Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142065A>T | CA351749113 | VHL | c.218A>T (p.Gln73Leu) | ClinVar dbSNP |
3 | g.10142065dup | CA432536426 | VHL | c.218dup (p.Val74GlyfsTer?) | COSMIC |
3 | g.10142065_10142066del | CA645524713 | VHL | c.218_219del (p.Gln73ArgfsTer?) | COSMIC |
3 | g.10142065_10142067del | CA645524714 | VHL | c.218_220del (p.Gln73_Val74delinsLeu) | COSMIC |
3 | g.10142065_10142067delinsAGG | CA1345065759 | VHL | c.218_220delinsAGG (p.Gln73=) | |
3 | g.10142066G>A | CA432536429 | VHL | c.219G>A (p.Gln73=) | COSMIC |
3 | g.10142066G>C | CA351749148 | VHL | c.219G>C (p.Gln73His) | ClinVar dbSNP |
3 | g.10142066G= | CA1345065769 | VHL | c.219G= (p.Gln73=) | |
3 | g.10142066G>T | CA351749151 | VHL | c.219G>T (p.Gln73His) | gnomAD v4 |
3 | g.10142066_10142067del | CA020116 | VHL | c.219_220del (p.Gln73HisfsTer?) | ClinVar dbSNP COSMIC |
3 | g.10142067del | CA432536428 | VHL | c.220del (p.Val74SerfsTer?) | COSMIC COSMIC |
3 | g.10142067G>A | CA351749158 | VHL | c.220G>A (p.Val74Ile) | dbSNP gnomAD v4 |
3 | g.10142067G>C | CA351749160 | VHL | c.220G>C (p.Val74Leu) | ClinVar dbSNP |
3 | g.10142067G>T | CA351749164 | VHL | c.220G>T (p.Val74Phe) | ClinVar gnomAD v4 |
3 | g.10142067_10142068delinsGT | CA1345065773 | VHL | c.220_221delinsGT (p.Val74=) | |
3 | g.10142067_10142070delinsGTCA | CA1345065771 | VHL | c.220_223delinsGTCA (p.Val74=) | |
3 | g.10142068_10142077del | CA645524715 | VHL | c.221_230del (p.Val74AlafsTer?) | COSMIC |
3 | g.10142068_10142092del | CA645524716 | VHL | c.221_245del (p.Val74AlafsTer?) | COSMIC |
3 | g.10142068del | CA357108 | VHL | c.221del (p.Val74AlafsTer?) | ClinVar dbSNP COSMIC |
3 | g.10142068T>A | CA351749169 | VHL | c.221T>A (p.Val74Asp) | ClinVar dbSNP COSMIC |
3 | g.10142068T>C | CA16617786 | VHL | c.221T>C (p.Val74Ala) | ClinVar dbSNP COSMIC |
3 | g.10142068T>G | CA70042528 | VHL | c.221T>G (p.Val74Gly) | dbSNP COSMIC |
3 | g.10142068T= | CA1345065786 | VHL | c.221T= (p.Val74=) | |
3 | g.10142068_10142069delinsAT | CA645524719 | VHL | c.221_222delinsAT (p.Val74Asp) | COSMIC |
3 | g.10142070_10142072del | CA020120 | VHL | c.223_225del (p.Ile75del) | ClinVar dbSNP |
3 | g.10142068_10142076del | CA645524718 | VHL | c.221_229del (p.Val74_Cys77delinsGly) | COSMIC |
3 | g.10142069_10142076del | CA645524717 | VHL | c.222_229del (p.Ile75GlnfsTer?) | COSMIC |
3 | g.10142069C>A | CA432536430 | VHL | c.222C>A (p.Val74=) | ClinVar dbSNP |
3 | g.10142069C= | CA1345065795 | VHL | c.222C= (p.Val74=) | |
3 | g.10142069C>G | CA039854 | VHL | c.222C>G (p.Val74=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142069C>T | CA432536431 | VHL | c.222C>T (p.Val74=) | ClinVar dbSNP gnomAD v2 COSMIC |
3 | g.10142069_10142072dup | CA1139768927 | VHL | c.222_225dup (p.Phe76HisfsTer?) | ClinVar |
3 | g.10142069_10142070insT | CA2499306953 | VHL | c.222_223insT (p.Ile75TyrfsTer?) | |
3 | g.10142070del | CA2499306978 | VHL | c.223del (p.Ile75SerfsTer?) | |
3 | g.10142070A= | CA1345065802 | VHL | c.223A= (p.Ile75=) | |
3 | g.10142070A>C | CA16611074 | VHL | c.223A>C (p.Ile75Leu) | ClinVar dbSNP |
3 | g.10142070A>G | CA351749194 | VHL | c.223A>G (p.Ile75Val) | ClinVar dbSNP |
3 | g.10142070A>T | CA351749187 | VHL | c.223A>T (p.Ile75Phe) | dbSNP |
3 | g.10142070dup | CA645524720 | VHL | c.223dup (p.Ile75AsnfsTer?) | COSMIC |
3 | g.10142070_10142073delinsATCT | CA1345065801 | VHL | c.223_226delinsATCT (p.Ile75=) | |
3 | g.10142073_10142082del | CA645524721 | VHL | c.226_235del (p.Phe76AlafsTer?) | COSMIC |
3 | g.10142071T>A | CA351749200 | VHL | c.224T>A (p.Ile75Asn) | |
3 | g.10142071T>C | CA351749204 | VHL | c.224T>C (p.Ile75Thr) | dbSNP gnomAD v4 |
3 | g.10142071T>G | CA16617787 | VHL | c.224T>G (p.Ile75Ser) | ClinVar dbSNP |
3 | g.10142071T= | CA1345065814 | VHL | c.224T= (p.Ile75=) | |
3 | g.10142071dup | CA913189239 | VHL | c.224dup (p.Phe76LeufsTer?) | |
3 | g.10142072_10142073del | CA645524722 | VHL | c.225_226del (p.Phe76LeufsTer?) | COSMIC |
3 | g.10142074_10142076dup | CA2586965640 | VHL | c.227_229dup (p.Phe76_Cys77insPhe) | |
3 | g.10142074_10142076del | CA357012 | VHL | c.227_229del (p.Phe76del) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.10142071_10142078dup | CA645524723 | VHL | c.224_231dup (p.Asn78SerfsTer?) | COSMIC |
3 | g.10142071_10149891del | CA1139532528 | VHL | c.224_*245del c.224_704del c.224_679del c.224_568del c.224_445del c.224_*122del |