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.10142071_10149891del | CA1139532528 | VHL | c.224_*245del c.224_704del c.224_679del c.224_568del c.224_445del c.224_*122del | |
3 | g.10142074_10142168del | CA645524728 | VHL | c.227_321del (p.Phe76SerfsTer?) c.227_321del (p.Phe76SerfsTer24) c.227_321del (p.Phe76SerfsTer25) | COSMIC |
3 | g.10142138_10142157del | CA645524819 | VHL | c.291_310del (p.Tyr98HisfsTer?) c.291_310del (p.Tyr98HisfsTer27) c.291_310del (p.Tyr98HisfsTer28) | COSMIC |
3 | g.10142147_10142165del | CA645524823 | VHL | c.300_318del (p.Leu101AlafsTer10) c.300_318del (p.Leu101AlafsTer?) c.300_318del (p.Leu101AlafsTer11) | COSMIC |
3 | g.10142152_10142159del | CA645524831 | VHL | c.305_312del (p.Pro102HisfsTer?) c.305_312del (p.Pro102HisfsTer27) c.305_312del (p.Pro102HisfsTer28) | COSMIC |
3 | g.10142150_10142168del | CA645524830 | VHL | c.303_321del (p.Pro102AlafsTer9) c.303_321del (p.Pro102AlafsTer?) c.303_321del (p.Pro102AlafsTer10) | COSMIC |
3 | g.10142156_10142169del | CA645524833 | VHL | c.309_322del (p.Gly104HisfsTer?) c.309_322del (p.Gly104HisfsTer23) c.309_322del (p.Gly104HisfsTer24) | COSMIC |
3 | g.10142155_10142159del | CA645524834 | VHL | c.308_312del (p.Pro103HisfsTer?) c.308_312del (p.Pro103HisfsTer27) c.308_312del (p.Pro103HisfsTer28) | COSMIC |
3 | g.10142156_10142161dup | CA645524835 | VHL | c.309_314dup (p.Thr105_Gly106insGlyThr) | COSMIC |
3 | g.10142156_10142157del | CA658795178 | VHL | c.309_310del (p.Gly104HisfsTer?) c.309_310del (p.Gly104HisfsTer27) c.309_310del (p.Gly104HisfsTer28) | |
3 | g.10142156_10142160del | CA645524836 | VHL | c.309_313del (p.Thr105ProfsTer?) c.309_313del (p.Thr105ProfsTer25) c.309_313del (p.Thr105ProfsTer26) | COSMIC |
3 | g.10142157_10142173del | CA645524837 | VHL | c.310_326del (p.Gly104ProfsTer?) c.310_326del (p.Gly104ProfsTer22) c.310_326del (p.Gly104ProfsTer23) | COSMIC |
3 | g.10142156_10142206delinsTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAG | CA1345066382 | VHL | c.309_340+19delinsTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAG | |
3 | g.10142157G>A | CA351751097 | VHL | c.310G>A (p.Gly104Ser) | dbSNP |
3 | g.10142157G>C | CA351751101 | VHL | c.310G>C (p.Gly104Arg) | dbSNP |
3 | g.10142157G>T | CA351751106 | VHL | c.310G>T (p.Gly104Cys) | |
3 | g.10142158del | CA432420536 | VHL | c.311del (p.Gly104AlafsTer13) c.311del (p.Gly104AlafsTer?) c.311del (p.Gly104AlafsTer14) | COSMIC COSMIC |
3 | g.10142158_10142167del | CA645524838 | VHL | c.311_320del (p.Gly104AlafsTer10) c.311_320del (p.Gly104AlafsTer?) c.311_320del (p.Gly104AlafsTer11) | COSMIC |
3 | g.10142158_10142207del | CA357118 | VHL | c.311_340+20del | ClinVar dbSNP |
3 | g.10142157_10142158insC | CA2740090909 | VHL | c.310_311insC (p.Gly104AlafsTer?) c.310_311insC (p.Gly104AlafsTer28) c.310_311insC (p.Gly104AlafsTer29) | ClinVar |
3 | g.10142158G>A | CA351751113 | VHL | c.311G>A (p.Gly104Asp) | dbSNP gnomAD v4 |
3 | g.10142158G>C | CA16611067 | VHL | c.311G>C (p.Gly104Ala) | ClinVar dbSNP |
3 | g.10142158G= | CA1345066392 | VHL | c.311G= (p.Gly104=) | |
3 | g.10142158G>T | CA357033 | VHL | c.311G>T (p.Gly104Val) | ClinVar dbSNP gnomAD v4 |
3 | g.10142159C>A | CA432420537 | VHL | c.312C>A (p.Gly104=) | dbSNP |
3 | g.10142159C= | CA1345066400 | VHL | c.312C= (p.Gly104=) | |
3 | g.10142159C>G | CA432420538 | VHL | c.312C>G (p.Gly104=) | |
3 | g.10142159C>T | CA70046276 | VHL | c.312C>T (p.Gly104=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142160_10142161dup | CA2586965665 | VHL | c.313_314dup (p.Gly106ArgfsTer12) c.313_314dup (p.Gly106ArgfsTer?) c.313_314dup (p.Gly106ArgfsTer13) | |
3 | g.10142162_10142177del | CA645524839 | VHL | c.315_330del (p.Gly106AlafsTer6) c.315_330del (p.Gly106AlafsTer?) c.315_330del (p.Gly106AlafsTer7) | COSMIC |
3 | g.10142160A= | CA1345066407 | VHL | c.313A= (p.Thr105=) | |
3 | g.10142160A>C | CA351751116 | VHL | c.313A>C (p.Thr105Pro) | ClinVar dbSNP COSMIC |
3 | g.10142160A>G | CA351751120 | VHL | c.313A>G (p.Thr105Ala) | ClinVar dbSNP |
3 | g.10142160A>T | CA351751121 | VHL | c.313A>T (p.Thr105Ser) | dbSNP |
3 | g.10142161del | CA432420540 | VHL | c.314del (p.Thr105ArgfsTer12) c.314del (p.Thr105ArgfsTer?) c.314del (p.Thr105ArgfsTer13) | COSMIC |
3 | g.10142161C>A | CA351751136 | VHL | c.314C>A (p.Thr105Lys) | COSMIC |
3 | g.10142161C= | CA1345066413 | VHL | c.314C= (p.Thr105=) | |
3 | g.10142161C>G | CA351751122 | VHL | c.314C>G (p.Thr105Arg) | dbSNP |
3 | g.10142161C>T | CA040253 | VHL | c.314C>T (p.Thr105Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.10142161dup | CA2573136089 | VHL | c.314dup (p.Arg107ProfsTer?) c.314dup (p.Arg107ProfsTer25) c.314dup (p.Arg107ProfsTer26) | ClinVar dbSNP |
3 | g.10142162_10142163insCGGCCG | CA645524840 | VHL | c.315_316insCGGCCG (p.Thr105_Gly106insArgPro) | COSMIC |
3 | g.10142162G>A | CA16604755 | VHL | c.315G>A (p.Thr105=) | ClinVar dbSNP gnomAD v4 |
3 | g.10142162G>C | CA040259 | VHL | c.315G>C (p.Thr105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142162G= | CA1345066423 | VHL | c.315G= (p.Thr105=) | |
3 | g.10142162G>T | CA432420549 | VHL | c.315G>T (p.Thr105=) | ClinVar dbSNP gnomAD v4 |
3 | g.10142164del | CA432420551 | VHL | c.317del (p.Gly106AlafsTer11) c.317del (p.Gly106AlafsTer?) c.317del (p.Gly106AlafsTer12) | COSMIC COSMIC COSMIC |
3 | g.10142162_10142163insAC | CA2573130208 | VHL | c.315_316insAC (p.Gly106ThrfsTer12) c.315_316insAC (p.Gly106ThrfsTer?) c.315_316insAC (p.Gly106ThrfsTer13) | |
3 | g.10142163G>A | CA351751142 | VHL | c.316G>A (p.Gly106Ser) | gnomAD v4 |
3 | g.10142163G>C | CA351751155 | VHL | c.316G>C (p.Gly106Arg) | gnomAD v4 |
3 | g.10142163G>T | CA351751180 | VHL | c.316G>T (p.Gly106Cys) | gnomAD v4 |
3 | g.10142163_10142164insCCG | CA2586965667 | VHL | c.316_317insCCG (p.Thr105_Gly106insAla) | |
3 | g.10142163_10142166delinsGGCC | CA1345066429 | VHL | c.316_319delinsGGCC (p.Gly106=) | |
3 | g.10142164_10142170del | CA645524841 | VHL | c.317_323del (p.Gly106AlafsTer9) c.317_323del (p.Gly106AlafsTer?) c.317_323del (p.Gly106AlafsTer10) | COSMIC |
3 | g.10142163_10142164insA | CA2573102973 | VHL | c.316_317insA (p.Gly106GlufsTer?) c.316_317insA (p.Gly106GlufsTer26) c.316_317insA (p.Gly106GlufsTer27) | |
3 | g.10142164G>A | CA351751181 | VHL | c.317G>A (p.Gly106Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.10142164G>C | CA351751182 | VHL | c.317G>C (p.Gly106Ala) | dbSNP COSMIC |
3 | g.10142164G= | CA1345066437 | VHL | c.317G= (p.Gly106=) | |
3 | g.10142164G>T | CA351751187 | VHL | c.317G>T (p.Gly106Val) | |
3 | g.10142169_10142171dup | CA916832608 | VHL | c.322_324dup (p.Arg108_Ile109insArg) | dbSNP |
3 | g.10142169_10142171del | CA645524842 | VHL | c.322_324del (p.Arg108del) | ClinVar dbSNP COSMIC |
3 | g.10142165C>A | CA432420568 | VHL | c.318C>A (p.Gly106=) | dbSNP |
3 | g.10142165C= | CA1345066441 | VHL | c.318C= (p.Gly106=) | |
3 | g.10142165C>G | CA432420566 | VHL | c.318C>G (p.Gly106=) | dbSNP |
3 | g.10142165C>T | CA432420562 | VHL | c.318C>T (p.Gly106=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142166del | CA432420564 | VHL | c.319del (p.Arg107AlafsTer10) c.319del (p.Arg107AlafsTer?) c.319del (p.Arg107AlafsTer11) | COSMIC |
3 | g.10142166C>A | CA351751190 | VHL | c.319C>A (p.Arg107Ser) | ClinVar |
3 | g.10142166C= | CA1345066447 | VHL | c.319C= (p.Arg107=) | |
3 | g.10142166C>G | CA020257 | VHL | c.319C>G (p.Arg107Gly) | ClinVar dbSNP COSMIC |
3 | g.10142166C>T | CA351751195 | VHL | c.319C>T (p.Arg107Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.10142167_10142168dup | CA645524843 | VHL | c.320_321dup (p.Arg108AlafsTer10) c.320_321dup (p.Arg108AlafsTer?) c.320_321dup (p.Arg108AlafsTer11) | COSMIC |
3 | g.10142167del | CA432420583 | VHL | c.320del (p.Arg107ProfsTer10) c.320del (p.Arg107ProfsTer?) c.320del (p.Arg107ProfsTer11) | COSMIC |
3 | g.10142167G>A | CA357135 | VHL | c.320G>A (p.Arg107His) | ClinVar dbSNP gnomAD v4 |
3 | g.10142167G>C | CA020262 | VHL | c.320G>C (p.Arg107Pro) | ClinVar dbSNP |
3 | g.10142167G= | CA1345066460 | VHL | c.320G= (p.Arg107=) | |
3 | g.10142167G>T | CA351751197 | VHL | c.320G>T (p.Arg107Leu) | dbSNP gnomAD v4 |
3 | g.10142167_10142168delinsCA | CA645524845 | VHL | c.320_321delinsCA (p.Arg107Pro) | COSMIC |
3 | g.10142167_10142170del | CA645524844 | VHL | c.320_323del (p.Arg107ProfsTer9) c.320_323del (p.Arg107ProfsTer?) c.320_323del (p.Arg107ProfsTer10) | COSMIC |
3 | g.10142168C>A | CA432420587 | VHL | c.321C>A (p.Arg107=) | |
3 | g.10142168C= | CA1345066466 | VHL | c.321C= (p.Arg107=) | |
3 | g.10142168C>G | CA432420589 | VHL | c.321C>G (p.Arg107=) | |
3 | g.10142168C>T | CA348868 | VHL | c.321C>T (p.Arg107=) | ClinVar dbSNP |
3 | g.10142169del | CA432420592 | VHL | c.322del (p.Arg108AlafsTer9) c.322del (p.Arg108AlafsTer?) c.322del (p.Arg108AlafsTer10) | COSMIC COSMIC |
3 | g.10142168_10142170delinsCCG | CA1345066469 | VHL | c.321_323delinsCCG (p.Arg107=) | |
3 | g.10142171_10142185del | CA645524846 | VHL | c.324_338del (p.Ile109_Arg113del) | COSMIC |
3 | g.10142168_10142169insTTCG | CA645524847 | VHL | c.321_322insTTCG (p.Arg108PhefsTer?) c.321_322insTTCG (p.Arg108PhefsTer25) c.321_322insTTCG (p.Arg108PhefsTer26) | COSMIC |
3 | g.10142169C>A | CA351751214 | VHL | c.322C>A (p.Arg108Ser) | |
3 | g.10142169C>G | CA351751217 | VHL | c.322C>G (p.Arg108Gly) | dbSNP |
3 | g.10142169C>T | CA351751224 | VHL | c.322C>T (p.Arg108Cys) | dbSNP gnomAD v4 |
3 | g.10142170_10142171del | CA916832609 | VHL | c.323_324del (p.Arg108HisfsTer?) c.323_324del (p.Arg108HisfsTer23) c.323_324del (p.Arg108HisfsTer24) | dbSNP |
3 | g.10142169_10142170insTG | CA2501548609 | VHL | c.322_323insTG (p.Arg108LeufsTer10) c.322_323insTG (p.Arg108LeufsTer?) c.322_323insTG (p.Arg108LeufsTer11) | |
3 | g.10142170G>A | CA040275 | VHL | c.323G>A (p.Arg108His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142170G>C | CA351751235 | VHL | c.323G>C (p.Arg108Pro) | dbSNP |
3 | g.10142170G= | CA1345066481 | VHL | c.323G= (p.Arg108=) | |
3 | g.10142170G>T | CA040290 | VHL | c.323G>T (p.Arg108Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142171del | CA432420609 | VHL | c.324del (p.Ile109SerfsTer8) c.324del (p.Ile109SerfsTer?) c.324del (p.Ile109SerfsTer9) | COSMIC |
3 | g.10142171C>A | CA432420604 | VHL | c.324C>A (p.Arg108=) | dbSNP COSMIC |
3 | g.10142171C= | CA1345066490 | VHL | c.324C= (p.Arg108=) | |
3 | g.10142171C>G | CA432420605 | VHL | c.324C>G (p.Arg108=) | |
3 | g.10142171C>T | CA10582114 | VHL | c.324C>T (p.Arg108=) | ClinVar dbSNP |
3 | g.10142172del | CA645524848 | VHL | c.325del (p.Ile109SerfsTer8) c.325del (p.Ile109SerfsTer?) c.325del (p.Ile109SerfsTer9) | COSMIC |
3 | g.10142172A= | CA1345066494 | VHL | c.325A= (p.Ile109=) | |
3 | g.10142172A>C | CA351751249 | VHL | c.325A>C (p.Ile109Leu) | dbSNP |
3 | g.10142172A>G | CA351751254 | VHL | c.325A>G (p.Ile109Val) | ClinVar dbSNP gnomAD v4 |
3 | g.10142172A>T | CA351751259 | VHL | c.325A>T (p.Ile109Phe) | |
3 | g.10142173_10142186dup | CA2573051018 | VHL | c.326_339dup (p.Val114SerfsTer8) c.326_339dup (p.Gly114SerfsTer?) c.326_339dup (p.Val114SerfsTer9) | |
3 | g.10142173del | CA658820709 | VHL | c.326del (p.Ile109ThrfsTer8) c.326del (p.Ile109ThrfsTer?) c.326del (p.Ile109ThrfsTer9) | |
3 | g.10142173T>A | CA020268 | VHL | c.326T>A (p.Ile109Asn) | ClinVar dbSNP |
3 | g.10142173T>C | CA351751268 | VHL | c.326T>C (p.Ile109Thr) | dbSNP |
3 | g.10142173T>G | CA351751265 | VHL | c.326T>G (p.Ile109Ser) | COSMIC |
3 | g.10142173T= | CA1345066497 | VHL | c.326T= (p.Ile109=) | |
3 | g.10142174C>A | CA432420621 | VHL | c.327C>A (p.Ile109=) | ClinVar dbSNP gnomAD v4 |
3 | g.10142174C= | CA1345066498 | VHL | c.327C= (p.Ile109=) | |
3 | g.10142174C>G | CA351751282 | VHL | c.327C>G (p.Ile109Met) | ClinVar dbSNP |
3 | g.10142174C>T | CA336376 | VHL | c.327C>T (p.Ile109=) | ClinVar dbSNP |
3 | g.10142175del | CA432420626 | VHL | c.328del (p.His110ThrfsTer7) c.328del (p.His110ThrfsTer?) c.328del (p.His110ThrfsTer8) | gnomAD v4 COSMIC COSMIC |
3 | g.10142175_10142180del | CA645524849 | VHL | c.328_333del (p.His110_Ser111del) | COSMIC |
3 | g.10142175C>A | CA351751295 | VHL | c.328C>A (p.His110Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142175C= | CA1345066499 | VHL | c.328C= (p.His110=) | |
3 | g.10142175C>G | CA351751300 | VHL | c.328C>G (p.His110Asp) | |
3 | g.10142175C>T | CA70046309 | VHL | c.328C>T (p.His110Tyr) | dbSNP gnomAD v4 COSMIC |
3 | g.10142175_10142176delinsCA | CA1345066500 | VHL | c.328_329delinsCA (p.His110=) | |
3 | g.10142177_10142178dup | CA645524850 | VHL | c.330_331dup (p.Ser111ThrfsTer7) c.330_331dup (p.Ser111ThrfsTer?) c.330_331dup (p.Ser111ThrfsTer8) | COSMIC |
3 | g.10142175_10142178dup | CA645524851 | VHL | c.328_331dup (p.Ser111ThrfsTer?) c.328_331dup (p.Ser111ThrfsTer22) c.328_331dup (p.Ser111ThrfsTer23) | COSMIC |
3 | g.10142175_10142176insGCATCA | CA645524853 | VHL | c.328_329insGCATCA (p.His110delinsArgIleAsn) | COSMIC |
3 | g.10142176del | CA432420639 | VHL | c.329del (p.His110ProfsTer7) c.329del (p.His110ProfsTer?) c.329del (p.His110ProfsTer8) | ClinVar dbSNP COSMIC |
3 | g.10142176A>C | CA351751310 | VHL | c.329A>C (p.His110Pro) | dbSNP COSMIC |
3 | g.10142176A>G | CA351751314 | VHL | c.329A>G (p.His110Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142176A>T | CA351751315 | VHL | c.329A>T (p.His110Leu) | |
3 | g.10142176dup | CA432420637 | VHL | c.329dup (p.His110GlnfsTer?) c.329dup (p.His110GlnfsTer22) c.329dup (p.His110GlnfsTer23) | ClinVar COSMIC |
3 | g.10142178_10142183del | CA645524852 | VHL | c.331_336del (p.Ser111_Tyr112del) | COSMIC |
3 | g.10142177_10142186del | CA2573131809 | VHL | c.330_339del (p.His110GlnfsTer4) c.330_339del (p.His110GlnfsTer?) c.330_339del (p.His110GlnfsTer5) | |
3 | g.10142177del | CA432420646 | VHL | c.330del (p.His110GlnfsTer7) c.330del (p.His110GlnfsTer?) c.330del (p.His110GlnfsTer8) | COSMIC |
3 | g.10142177C>A | CA351751316 | VHL | c.330C>A (p.His110Gln) | dbSNP gnomAD v4 |
3 | g.10142177C= | CA1345066502 | VHL | c.330C= (p.His110=) | |
3 | g.10142177C>G | CA351751317 | VHL | c.330C>G (p.His110Gln) | ClinVar dbSNP COSMIC |
3 | g.10142177C>T | CA432420644 | VHL | c.330C>T (p.His110=) | ClinVar dbSNP |
3 | g.10142177_10142178delinsT | CA645524854 | VHL | c.330_331delinsT (p.Ser111AlafsTer6) c.330_331delinsT (p.Ser111AlafsTer?) c.330_331delinsT (p.Ser111AlafsTer7) | COSMIC |
3 | g.10142177_10142178delinsTT | CA2573106137 | VHL | c.330_331delinsTT (p.Ser111Cys) | ClinVar |
3 | g.10142177_10142180del | CA645524855 | VHL | c.330_333del (p.Ser111ThrfsTer5) c.330_333del (p.Ser111ThrfsTer?) c.330_333del (p.Ser111ThrfsTer6) | COSMIC |
3 | g.10142178del | CA432420649 | VHL | c.331del (p.Ser111AlafsTer6) c.331del (p.Ser111AlafsTer?) c.331del (p.Ser111AlafsTer7) | COSMIC |
3 | g.10142178A= | CA1345066512 | VHL | c.331A= (p.Ser111=) | |
3 | g.10142178A>C | CA351751320 | VHL | c.331A>C (p.Ser111Arg) | ClinVar COSMIC |
3 | g.10142178A>G | CA351751321 | VHL | c.331A>G (p.Ser111Gly) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142178A>T | CA351751322 | VHL | c.331A>T (p.Ser111Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.10142178_10142187del | CA645524856 | VHL | c.331_340del (p.Tyr112SerfsTer2) c.331_340del (p.Ser111ValfsTer?) c.331_340del (p.Ser111CysfsTer4) | COSMIC |
3 | g.10142179del | CA913189247 | VHL | c.332del (p.Ser111ThrfsTer6) c.332del (p.Ser111ThrfsTer?) c.332del (p.Ser111ThrfsTer7) | |
3 | g.10142179G>A | CA357091 | VHL | c.332G>A (p.Ser111Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142179G>C | CA351751328 | VHL | c.332G>C (p.Ser111Thr) | dbSNP |
3 | g.10142179G= | CA1345066522 | VHL | c.332G= (p.Ser111=) | |
3 | g.10142179G>T | CA357019 | VHL | c.332G>T (p.Ser111Ile) | ClinVar dbSNP COSMIC |
3 | g.10142179_10142188del | CA645524857 | VHL | c.332_340+1del | COSMIC |
3 | g.10142180del | CA432420663 | VHL | c.333del (p.Tyr112ThrfsTer5) c.333del (p.Tyr112ThrfsTer?) c.333del (p.Tyr112ThrfsTer6) | COSMIC |
3 | g.10142180C>A | CA351751338 | VHL | c.333C>A (p.Ser111Arg) | dbSNP gnomAD v4 COSMIC |
3 | g.10142180C= | CA1345066528 | VHL | c.333C= (p.Ser111=) | |
3 | g.10142180C>G | CA040305 | VHL | c.333C>G (p.Ser111Arg) | ClinVar dbSNP ExAC COSMIC |
3 | g.10142180C>T | CA16611087 | VHL | c.333C>T (p.Ser111=) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142180_10142181insA | CA645524858 | VHL | c.333_334insA (p.Tyr112IlefsTer?) c.333_334insA (p.Tyr112IlefsTer20) c.333_334insA (p.Tyr112IlefsTer21) | COSMIC |
3 | g.10142181T>A | CA020273 | VHL | c.334T>A (p.Tyr112Asn) | ClinVar dbSNP |
3 | g.10142181T>C | CA020277 | VHL | c.334T>C (p.Tyr112His) | ClinVar dbSNP |
3 | g.10142181T>G | CA351751342 | VHL | c.334T>G (p.Tyr112Asp) | COSMIC |
3 | g.10142181T= | CA1345066529 | VHL | c.334T= (p.Tyr112=) | |
3 | g.10142181_10142192delinsTACCGAGGTACG | CA1345066535 | VHL | c.334_340+5delinsTACCGAGGTACG | |
3 | g.10142183_10142205del | CA645524859 | VHL | c.336_340+18del | COSMIC |
3 | g.10142182A= | CA1345066539 | VHL | c.335A= (p.Tyr112=) | |
3 | g.10142182A>C | CA351751356 | VHL | c.335A>C (p.Tyr112Ser) | ClinVar dbSNP |
3 | g.10142182A>G | CA357115 | VHL | c.335A>G (p.Tyr112Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.10142182A>T | CA351751346 | VHL | c.335A>T (p.Tyr112Phe) | dbSNP |
3 | g.10142182dup | CA645524860 | VHL | c.335dup (p.Tyr112Ter) | COSMIC |
3 | g.10142182_10142192del | CA357040 | VHL | c.335_340+5del | ClinVar dbSNP |
3 | g.10142183C>A | CA16602183 | VHL | c.336C>A (p.Tyr112Ter) | COSMIC |
3 | g.10142183C= | CA1345066546 | VHL | c.336C= (p.Tyr112=) | |
3 | g.10142183C>G | CA351751359 | VHL | c.336C>G (p.Tyr112Ter) | ClinVar dbSNP |
3 | g.10142183C>T | CA040315 | VHL | c.336C>T (p.Tyr112=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10142184del | CA432420675 | VHL | c.337del (p.Arg113GlufsTer4) c.337del (p.Arg113GlufsTer?) c.337del (p.Arg113GlufsTer5) | COSMIC |
3 | g.10142183_10142187del | CA645524861 | VHL | c.336_340del (p.Arg113ProfsTer?) c.336_340del (p.Tyr112Ter) c.336_340del (p.Arg113ValfsTer18) | COSMIC |
3 | g.10142183_10142190delinsCCGAGGTA | CA1345066545 | VHL | c.336_340+3delinsCCGAGGTA | |
3 | g.10142185_10142196del | CA913184902 | VHL | c.338_340+9del | |
3 | g.10142184C>A | CA040327 | VHL | c.337C>A (p.Arg113=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142184C= | CA1345066550 | VHL | c.337C= (p.Arg113=) | |
3 | g.10142184C>G | CA351751365 | VHL | c.337C>G (p.Arg113Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.10142184C>T | CA348491 | VHL | c.337C>T (p.Arg113Ter) | ClinVar dbSNP COSMIC |
3 | g.10142186_10142192del | CA915941837 | VHL | c.339_340+5del | ClinVar dbSNP |
3 | g.10142185G>A | CA351751368 | VHL | c.338G>A (p.Arg113Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.10142185G>C | CA040338 | VHL | c.338G>C (p.Arg113Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142185G= | CA1345066555 | VHL | c.338G= (p.Arg113=) | |
3 | g.10142185G>T | CA351751369 | VHL | c.338G>T (p.Arg113Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142186_10142187del | CA645524862 | VHL | c.339_340del (p.Val114ProfsTer?) c.339_340del (p.Gly114SerfsTer17) c.339_340del (p.Thr116SerfsTer16) | COSMIC |
3 | g.10142186del | CA645509026 | VHL | c.339del (p.Val114SerfsTer3) c.339del (p.Gly114ValfsTer?) c.339del (p.Val114CysfsTer4) | |
3 | g.10142186A>C | CA432420688 | VHL | c.339A>C (p.Arg113=) | ClinVar |
3 | g.10142186A>G | CA432420690 | VHL | c.339A>G (p.Arg113=) | ClinVar dbSNP |
3 | g.10142186A>T | CA432420692 | VHL | c.339A>T (p.Arg113=) | COSMIC |
3 | g.10142186_10142191delinsAGGTAC | CA1345066556 | VHL | c.339_340+4delinsAGGTAC | |
3 | g.10142187G>A | CA351751372 | VHL | c.340G>A (p.Val114Ile) c.340G>A (p.Gly114Ser) c.340G>A (p.Val114Met) | ClinVar dbSNP COSMIC |
3 | g.10142187G>C | CA357101 | VHL | c.340G>C (p.Val114Leu) c.340G>C (p.Gly114Arg) | ClinVar dbSNP COSMIC |
3 | g.10142187G= | CA1345066563 | VHL | c.340G= (p.Val114=) c.340G= (p.Gly114=) | |
3 | g.10142187G>T | CA351751376 | VHL | c.340G>T (p.Val114Phe) c.340G>T (p.Gly114Cys) c.340G>T (p.Val114Leu) | dbSNP gnomAD v4 COSMIC |
3 | g.10142188del | CA432420699 | VHL | c.340+1del | ClinVar COSMIC COSMIC |
3 | g.10142189_10142193del | CA357098 | VHL | c.340+2_340+6del | ClinVar dbSNP |
3 | g.10142188G>A | CA357042 | VHL | c.340+1G>A (n.340+1G>A) | ClinVar dbSNP COSMIC |
3 | g.10142188G>C | CA020282 | VHL | c.340+1G>C (n.340+1G>C) | ClinVar dbSNP COSMIC |
3 | g.10142188G= | CA1345066571 | VHL | c.340+1G= (n.340+1G=) | |
3 | g.10142188G>T | CA16621929 | VHL | c.340+1G>T (n.340+1G>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.10142189del | CA645524863 | VHL | c.340+2del (n.340+2del) | COSMIC |
3 | g.10142189T>A | CA351751380 | VHL | c.340+2T>A (n.340+2T>A) | dbSNP COSMIC |
3 | g.10142189T>C | CA351751382 | VHL | c.340+2T>C (n.340+2T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10142189T>G | CA351751384 | VHL | c.340+2T>G (n.340+2T>G) | ClinVar dbSNP COSMIC |
3 | g.10142189T= | CA1345066577 | VHL | c.340+2T= (n.340+2T=) | |
3 | g.10142189_10142191del | CA645524864 | VHL | c.340+2_340+4del (n.340+2_340+4del) | COSMIC |
3 | g.10142190A= | CA1345066579 | VHL | c.340+3A= (n.340+3A=) | |
3 | g.10142190A>G | CA915941838 | VHL | c.340+3A>G (n.340+3A>G) | ClinVar dbSNP gnomAD v4 |
3 | g.10142190A>T | CA2842635431 | VHL | c.340+3A>T (n.340+3A>T) | |
3 | g.10142190_10142197delinsCG | CA916079816 | VHL | c.340+3_340+10delinsCG (n.340+3_340+10delinsCG) | |
3 | g.10142191C>G | CA2580068413 | VHL | c.340+4C>G (n.340+4C>G) | ClinVar gnomAD v4 |
3 | g.10142191C>T | CA2499216352 | VHL | c.340+4C>T (n.340+4C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.10142191_10142192delinsCG | CA1345066580 | VHL | c.340+4_340+5delinsCG (n.340+4_340+5delinsCG) | |
3 | g.10142192G>A | CA1345066584 | VHL | c.340+5G>A (n.340+5G>A) | ClinVar dbSNP gnomAD v4 |
3 | g.10142192G>C | CA020288 | VHL | c.340+5G>C (n.340+5G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142192G= | CA1345066585 | VHL | c.340+5G= (n.340+5G=) | |
3 | g.10142192G>T | CA2581856261 | VHL | c.340+5G>T (n.340+5G>T) | dbSNP gnomAD v4 |
3 | g.10142194del | CA915941839 | VHL | c.340+7del (n.340+7del) | ClinVar dbSNP gnomAD v4 |
3 | g.10142192_10142204dup | CA2580068414 | VHL | c.340+5_340+17dup (n.340+5_340+17dup) | ClinVar gnomAD v4 |
3 | g.10142193G>A | CA915941840 | VHL | c.340+6G>A (n.340+6G>A) | ClinVar dbSNP |
3 | g.10142193G>C | CA540875684 | VHL | c.340+6G>C (n.340+6G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142193G= | CA1345066586 | VHL | c.340+6G= (n.340+6G=) | |
3 | g.10142193G>T | CA2838255657 | VHL | c.340+6G>T (n.340+6G>T) | |
3 | g.10142194G>A | CA2573131791 | VHL | c.340+7G>A (n.340+7G>A) | dbSNP gnomAD v4 |
3 | g.10142194G>C | CA357047 | VHL | c.340+7G>C (n.340+7G>C) | ClinVar dbSNP |
3 | g.10142194G= | CA1345066587 | VHL | c.340+7G= (n.340+7G=) | |
3 | g.10142194G>T | CA2664400276 | VHL | c.340+7G>T (n.340+7G>T) | gnomAD v4 |
3 | g.10142195C>A | CA040449 | VHL | c.340+8C>A (n.340+8C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142195C= | CA1345066591 | VHL | c.340+8C= (n.340+8C=) | |
3 | g.10142195C>G | CA2701938720 | VHL | c.340+8C>G (n.340+8C>G) | dbSNP |
3 | g.10142195C>T | CA645524865 | VHL | c.340+8C>T (n.340+8C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142197dup | CA2842635432 | VHL | c.340+10dup (n.340+10dup) | |
3 | g.10142197del | CA2573136090 | VHL | c.340+10del (n.340+10del) | ClinVar dbSNP |
3 | g.10142196C>A | CA2664400290 | VHL | c.340+9C>A (n.340+9C>A) | gnomAD v4 |
3 | g.10142196C= | CA1345066595 | VHL | c.340+9C= (n.340+9C=) | |
3 | g.10142196C>T | CA645524866 | VHL | c.340+9C>T (n.340+9C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142197C>A | CA896159667 | VHL | c.340+10C>A (n.340+10C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142197C= | CA1345066596 | VHL | c.340+10C= (n.340+10C=) | |
3 | g.10142197C>G | CA040367 | VHL | c.340+10C>G (n.340+10C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142197C>T | CA040383 | VHL | c.340+10C>T (n.340+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142198G>A | CA540875692 | VHL | c.340+11G>A (n.340+11G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142198G>C | CA2701963060 | VHL | c.340+11G>C (n.340+11G>C) | dbSNP |
3 | g.10142198G= | CA1345066600 | VHL | c.340+11G= (n.340+11G=) | |
3 | g.10142198G>T | CA2580068415 | VHL | c.340+11G>T (n.340+11G>T) | ClinVar gnomAD v4 |
3 | g.10142199G>T | CA2664400302 | VHL | c.340+12G>T (n.340+12G>T) | gnomAD v4 |
3 | g.10142200C>A | CA2664400303 | VHL | c.340+13C>A (n.340+13C>A) | gnomAD v4 |
3 | g.10142200C>T | CA2842635433 | VHL | c.340+13C>T (n.340+13C>T) | |
3 | g.10142201G>A | CA2664400304 | VHL | c.340+14G>A (n.340+14G>A) | dbSNP gnomAD v4 |
3 | g.10142201G>C | CA2664400308 | VHL | c.340+14G>C (n.340+14G>C) | ClinVar dbSNP gnomAD v4 |
3 | g.10142201G= | CA1345066603 | VHL | c.340+14G= (n.340+14G=) | |
3 | g.10142201G>T | CA16604341 | VHL | c.340+14G>T (n.340+14G>T) | ClinVar dbSNP gnomAD v4 |
3 | g.10142202C>A | CA2664400311 | VHL | c.340+15C>A (n.340+15C>A) | gnomAD v4 |
3 | g.10142202C>T | CA2580068416 | VHL | c.340+15C>T (n.340+15C>T) | ClinVar gnomAD v4 |
3 | g.10142203T>A | CA2702128349 | VHL | c.340+16T>A (n.340+16T>A) | dbSNP |
3 | g.10142203T>C | CA2702128413 | VHL | c.340+16T>C (n.340+16T>C) | dbSNP |
3 | g.10142203T>G | CA2702128418 | VHL | c.340+16T>G (n.340+16T>G) | dbSNP |
3 | g.10142204T>A | CA2702128438 | VHL | c.340+17T>A (n.340+17T>A) | dbSNP |
3 | g.10142204T>C | CA2838255656 | VHL | c.340+17T>C (n.340+17T>C) | |
3 | g.10142204T>G | CA2664400312 | VHL | c.340+17T>G (n.340+17T>G) | gnomAD v4 |
3 | g.10142205A>G | CA2839882170 | VHL | c.340+18A>G (n.340+18A>G) | |
3 | g.10142206G>A | CA2702128475 | VHL | c.340+19G>A (n.340+19G>A) | dbSNP |
3 | g.10142206G>T | CA2664400314 | VHL | c.340+19G>T (n.340+19G>T) | dbSNP gnomAD v4 |
3 | g.10142207del | CA2838255659 | VHL | c.340+20del (n.340+20del) | |
3 | g.10142207G>A | CA040398 | VHL | c.340+20G>A (n.340+20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142207G= | CA1345066608 | VHL | c.340+20G= (n.340+20G=) | |
3 | g.10142207G>T | CA1044995154 | VHL | c.340+20G>T (n.340+20G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142208C>A | CA2592313221 | VHL | c.340+21C>A (n.340+21C>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142208C>T | CA2664400319 | VHL | c.340+21C>T (n.340+21C>T) | dbSNP gnomAD v4 |
3 | g.10142209C>G | CA2664400321 | VHL | c.340+22C>G (n.340+22C>G) | gnomAD v4 |
3 | g.10142209C>T | CA2664400322 | VHL | c.340+22C>T (n.340+22C>T) | dbSNP gnomAD v4 |
3 | g.10142209_10142216del | CA2664400320 | VHL | c.340+22_340+29del (n.340+22_340+29del) | gnomAD v4 |
3 | g.10142210C>A | CA2577505302 | VHL | c.340+23C>A (n.340+23C>A) | dbSNP gnomAD v4 |
3 | g.10142210C>T | CA645524867 | VHL | c.340+23C>T (n.340+23C>T) | dbSNP gnomAD v4 COSMIC |
3 | g.10142211G>A | CA540875696 | VHL | c.340+24G>A (n.340+24G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142211G>C | CA2701957391 | VHL | c.340+24G>C (n.340+24G>C) | dbSNP |
3 | g.10142211G= | CA1345066609 | VHL | c.340+24G= (n.340+24G=) | |
3 | g.10142211G>T | CA2577505304 | VHL | c.340+24G>T (n.340+24G>T) | gnomAD v4 |
3 | g.10142212A>G | CA2664400326 | VHL | c.340+25A>G (n.340+25A>G) | gnomAD v4 |
3 | g.10142212A>T | CA2702128844 | VHL | c.340+25A>T (n.340+25A>T) | dbSNP |
3 | g.10142213C>A | CA2702128917 | VHL | c.340+26C>A (n.340+26C>A) | dbSNP |
3 | g.10142213C>T | CA2664400327 | VHL | c.340+26C>T (n.340+26C>T) | dbSNP gnomAD v4 |
3 | g.10142214_10142215del | CA2839882171 | VHL | c.340+27_340+28del (n.340+27_340+28del) | |
3 | g.10142214C>A | CA2664400330 | VHL | c.340+27C>A (n.340+27C>A) | gnomAD v4 |
3 | g.10142214C= | CA1345066613 | VHL | c.340+27C= (n.340+27C=) | |
3 | g.10142214C>G | CA040411 | VHL | c.340+27C>G (n.340+27C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142215C>A | CA647445633 | VHL | c.340+28C>A (n.340+28C>A) | COSMIC |
3 | g.10142215C>T | CA2664400331 | VHL | c.340+28C>T (n.340+28C>T) | gnomAD v4 |
3 | g.10142217G>A | CA2664400332 | VHL | c.340+30G>A (n.340+30G>A) | gnomAD v4 |
3 | g.10142217G>T | CA2664400333 | VHL | c.340+30G>T (n.340+30G>T) | gnomAD v4 |
3 | g.10142218C>A | CA2701958378 | VHL | c.340+31C>A (n.340+31C>A) | dbSNP |
3 | g.10142218C= | CA1345066614 | VHL | c.340+31C= (n.340+31C=) | |
3 | g.10142218C>G | CA2701958377 | VHL | c.340+31C>G (n.340+31C>G) | dbSNP |
3 | g.10142218C>T | CA896159682 | VHL | c.340+31C>T (n.340+31C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142218dup | CA2664400334 | VHL | c.340+31dup (n.340+31dup) | gnomAD v4 |
3 | g.10142218_10142219insTT | CA2664400337 | VHL | c.340+31_340+32insTT (n.340+31_340+32insTT) | gnomAD v4 |
3 | g.10142219A= | CA1345066615 | VHL | c.340+32A= (n.340+32A=) | |
3 | g.10142219A>C | CA1345066616 | VHL | c.340+32A>C (n.340+32A>C) | dbSNP |
3 | g.10142219A>G | CA70046369 | VHL | c.340+32A>G (n.340+32A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142220G>A | CA2702128959 | VHL | c.340+33G>A (n.340+33G>A) | dbSNP |
3 | g.10142220G>T | CA2664400342 | VHL | c.340+33G>T (n.340+33G>T) | gnomAD v4 |
3 | g.10142221G>A | CA2664400343 | VHL | c.340+34G>A (n.340+34G>A) | dbSNP gnomAD v4 |
3 | g.10142221G>T | CA2664400345 | VHL | c.340+34G>T (n.340+34G>T) | gnomAD v4 |
3 | g.10142222_10142229del | CA2664400346 | VHL | c.340+35_340+42del (n.340+35_340+42del) | gnomAD v4 |
3 | g.10142222G>A | CA2702129256 | VHL | c.340+35G>A (n.340+35G>A) | dbSNP |
3 | g.10142222G>C | CA2702129276 | VHL | c.340+35G>C (n.340+35G>C) | dbSNP |
3 | g.10142222G>T | CA2664400347 | VHL | c.340+35G>T (n.340+35G>T) | gnomAD v4 |
3 | g.10142223A>C | CA2702129450 | VHL | c.340+36A>C (n.340+36A>C) | dbSNP |
3 | g.10142223A>G | CA2664400348 | VHL | c.340+36A>G (n.340+36A>G) | gnomAD v4 |
3 | g.10142223A>T | CA2702129337 | VHL | c.340+36A>T (n.340+36A>T) | dbSNP |
3 | g.10142224C>A | CA040430 | VHL | c.340+37C>A (n.340+37C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142224C= | CA1345066619 | VHL | c.340+37C= (n.340+37C=) | |
3 | g.10142224C>G | CA2664400349 | VHL | c.340+37C>G (n.340+37C>G) | dbSNP gnomAD v4 |
3 | g.10142224C>T | CA2664400350 | VHL | c.340+37C>T (n.340+37C>T) | dbSNP gnomAD v4 |
3 | g.10142225G>A | CA2664400352 | VHL | c.340+38G>A (n.340+38G>A) | dbSNP gnomAD v4 |
3 | g.10142225G>C | CA540875700 | VHL | c.340+38G>C (n.340+38G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142225G= | CA1345066621 | VHL | c.340+38G= (n.340+38G=) | |
3 | g.10142225G>T | CA1044995161 | VHL | c.340+38G>T (n.340+38G>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142226A>C | CA2702129453 | VHL | c.340+39A>C (n.340+39A>C) | dbSNP |
3 | g.10142226A>G | CA2664400357 | VHL | c.340+39A>G (n.340+39A>G) | gnomAD v4 |
3 | g.10142226A>T | CA2664400358 | VHL | c.340+39A>T (n.340+39A>T) | gnomAD v4 |
3 | g.10142227T>A | CA2702129455 | VHL | c.340+40T>A (n.340+40T>A) | dbSNP |
3 | g.10142227T>C | CA2664400359 | VHL | c.340+40T>C (n.340+40T>C) | gnomAD v4 |
3 | g.10142227T>G | CA2702129454 | VHL | c.340+40T>G (n.340+40T>G) | dbSNP |
3 | g.10142228A>G | CA2664400360 | VHL | c.340+41A>G (n.340+41A>G) | gnomAD v4 |
3 | g.10142229G>A | CA1345066624 | VHL | c.340+42G>A (n.340+42G>A) | dbSNP gnomAD v4 |
3 | g.10142229G>C | CA1345066625 | VHL | c.340+42G>C (n.340+42G>C) | dbSNP |
3 | g.10142229G= | CA1345066623 | VHL | c.340+42G= (n.340+42G=) | |
3 | g.10142229G>T | CA1345066626 | VHL | c.340+42G>T (n.340+42G>T) | dbSNP gnomAD v4 |
3 | g.10142230C>A | CA2701984752 | VHL | c.340+43C>A (n.340+43C>A) | dbSNP |
3 | g.10142230C= | CA1345066627 | VHL | c.340+43C= (n.340+43C=) | |
3 | g.10142230C>G | CA2664400362 | VHL | c.340+43C>G (n.340+43C>G) | dbSNP gnomAD v4 |
3 | g.10142230C>T | CA1345066628 | VHL | c.340+43C>T (n.340+43C>T) | dbSNP gnomAD v4 |
3 | g.10142231A= | CA1345066630 | VHL | c.340+44A= (n.340+44A=) | |
3 | g.10142231A>C | CA2701957902 | VHL | c.340+44A>C (n.340+44A>C) | dbSNP |
3 | g.10142231A>G | CA540875702 | VHL | c.340+44A>G (n.340+44A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142231A>T | CA2701957901 | VHL | c.340+44A>T (n.340+44A>T) | dbSNP |
3 | g.10142232C>A | CA2842635434 | VHL | c.340+45C>A (n.340+45C>A) | |
3 | g.10142232C= | CA1345066631 | VHL | c.340+45C= (n.340+45C=) | |
3 | g.10142232C>G | CA2701973338 | VHL | c.340+45C>G (n.340+45C>G) | dbSNP |
3 | g.10142232C>T | CA540875704 | VHL | c.340+45C>T (n.340+45C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142233G>A | CA2701984754 | VHL | c.340+46G>A (n.340+46G>A) | dbSNP |
3 | g.10142233G>C | CA2701984753 | VHL | c.340+46G>C (n.340+46G>C) | dbSNP |
3 | g.10142233G= | CA1345066632 | VHL | c.340+46G= (n.340+46G=) | |
3 | g.10142233G>T | CA1345066633 | VHL | c.340+46G>T (n.340+46G>T) | dbSNP gnomAD v4 |
3 | g.10142234G>A | CA2664400369 | VHL | c.340+47G>A (n.340+47G>A) | gnomAD v4 |
3 | g.10142234G>T | CA2664400370 | VHL | c.340+47G>T (n.340+47G>T) | gnomAD v4 |
3 | g.10142235T>C | CA2702129457 | VHL | c.340+48T>C (n.340+48T>C) | dbSNP |
3 | g.10142236C>A | CA2664400372 | VHL | c.340+49C>A (n.340+49C>A) | gnomAD v4 |
3 | g.10142236C= | CA1345066635 | VHL | c.340+49C= (n.340+49C=) | |
3 | g.10142236C>T | CA540875705 | VHL | c.340+49C>T (n.340+49C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142237T>A | CA2664400376 | VHL | c.340+50T>A (n.340+50T>A) | dbSNP gnomAD v4 |
3 | g.10142237T>C | CA70046371 | VHL | c.340+50T>C (n.340+50T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142237T= | CA1345066639 | VHL | c.340+50T= (n.340+50T=) | |
3 | g.10142238G>A | CA2702129462 | VHL | c.340+51G>A (n.340+51G>A) | dbSNP |
3 | g.10142238G>C | CA2702129463 | VHL | c.340+51G>C (n.340+51G>C) | dbSNP |
3 | g.10142238G>T | CA2664400379 | VHL | c.340+51G>T (n.340+51G>T) | gnomAD v4 |
3 | g.10142239A>G | CA2702129484 | VHL | c.340+52A>G (n.340+52A>G) | dbSNP |
3 | g.10142240A>G | CA2702129499 | VHL | c.340+53A>G (n.340+53A>G) | dbSNP |
3 | g.10142241G>A | CA70046372 | VHL | c.340+54G>A (n.340+54G>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142241G= | CA1345066640 | VHL | c.340+54G= (n.340+54G=) | |
3 | g.10142241G>T | CA2664400381 | VHL | c.340+54G>T (n.340+54G>T) | gnomAD v4 |
3 | g.10142242C>A | CA2701941276 | VHL | c.340+55C>A (n.340+55C>A) | dbSNP |
3 | g.10142242C= | CA1345066641 | VHL | c.340+55C= (n.340+55C=) | |
3 | g.10142242C>G | CA2664400382 | VHL | c.340+55C>G (n.340+55C>G) | gnomAD v4 |
3 | g.10142242C>T | CA70046375 | VHL | c.340+55C>T (n.340+55C>T) | dbSNP gnomAD v4 |
3 | g.10142243C>T | CA2664400383 | VHL | c.340+56C>T (n.340+56C>T) | gnomAD v4 |
3 | g.10142244C>A | CA2664400384 | VHL | c.340+57C>A (n.340+57C>A) | dbSNP gnomAD v4 |
3 | g.10142244C>T | CA1044995164 | VHL | c.340+57C>T (n.340+57C>T) | gnomAD v3 gnomAD v4 |
3 | g.10142245C>A | CA2702129507 | VHL | c.340+58C>A (n.340+58C>A) | dbSNP |
3 | g.10142245C>G | CA2664400385 | VHL | c.340+58C>G (n.340+58C>G) | gnomAD v4 |
3 | g.10142245C>T | CA2664400386 | VHL | c.340+58C>T (n.340+58C>T) | dbSNP gnomAD v4 |
3 | g.10142246T>G | CA896159702 | VHL | c.340+59T>G (n.340+59T>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142246T= | CA1345066642 | VHL | c.340+59T= (n.340+59T=) | |
3 | g.10142247C>A | CA2664400388 | VHL | c.340+60C>A (n.340+60C>A) | dbSNP gnomAD v4 |
3 | g.10142247C= | CA1345066644 | VHL | c.340+60C= (n.340+60C=) | |
3 | g.10142247C>G | CA1044995165 | VHL | c.340+60C>G (n.340+60C>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142247C>T | CA2664400389 | VHL | c.340+60C>T (n.340+60C>T) | gnomAD v4 |
3 | g.10142249A= | CA1345066648 | VHL | c.340+62A= (n.340+62A=) | |
3 | g.10142249A>C | CA2701949853 | VHL | c.340+62A>C (n.340+62A>C) | dbSNP |
3 | g.10142249A>G | CA70046378 | VHL | c.340+62A>G (n.340+62A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142250C= | CA1345066649 | VHL | c.340+63C= (n.340+63C=) | |
3 | g.10142250C>T | CA540875711 | VHL | c.340+63C>T (n.340+63C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142251C>A | CA2664400394 | VHL | c.340+64C>A (n.340+64C>A) | gnomAD v4 |
3 | g.10142251C>T | CA2740389077 | VHL | c.340+64C>T (n.340+64C>T) | |
3 | g.10142252G>A | CA1044995167 | VHL | c.340+65G>A (n.340+65G>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142252G= | CA1345066651 | VHL | c.340+65G= (n.340+65G=) | |
3 | g.10142252G>T | CA2664400396 | VHL | c.340+65G>T (n.340+65G>T) | gnomAD v4 |
3 | g.10142252_10142253delinsGC | CA1345066652 | VHL | c.340+65_340+66delinsGC (n.340+65_340+66delinsGC) | |
3 | g.10142253C= | CA1345066653 | VHL | c.340+66C= (n.340+66C=) | |
3 | g.10142253C>T | CA896159707 | VHL | c.340+66C>T (n.340+66C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142256del | CA896159715 | VHL | c.340+69del (n.340+69del) | dbSNP gnomAD v4 |
3 | g.10142254C>T | CA2664400406 | VHL | c.340+67C>T (n.340+67C>T) | gnomAD v4 |
3 | g.10142255C>A | CA2664400408 | VHL | c.340+68C>A (n.340+68C>A) | gnomAD v4 |
3 | g.10142255C= | CA1345066654 | VHL | c.340+68C= (n.340+68C=) | |
3 | g.10142255C>G | CA70046380 | VHL | c.340+68C>G (n.340+68C>G) | dbSNP gnomAD v4 |
3 | g.10142255C>T | CA2664400410 | VHL | c.340+68C>T (n.340+68C>T) | gnomAD v4 |
3 | g.10142256C>A | CA2577505312 | VHL | c.340+69C>A (n.340+69C>A) | gnomAD v4 |
3 | g.10142256C>G | CA2664400416 | VHL | c.340+69C>G (n.340+69C>G) | gnomAD v4 |
3 | g.10142256C>T | CA2664400418 | VHL | c.340+69C>T (n.340+69C>T) | gnomAD v4 |
3 | g.10142257G>A | CA2556623747 | VHL | c.340+70G>A (n.340+70G>A) | gnomAD v4 |
3 | g.10142257G>T | CA2664400425 | VHL | c.340+70G>T (n.340+70G>T) | gnomAD v4 |
3 | g.10142260del | CA2664400421 | VHL | c.340+73del (n.340+73del) | gnomAD v4 |