| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10141849_10149966del | CA2581463473 | VHL | c.2_*320del c.2_*1del c.2_*197del | |
| 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.10143181_10152298del | CA2499216371 | VHL | c.340+994_*2333del c.*17+160_*2529del | ClinVar |
| 3 | g.10145108_10153342del | CA2499216377 | VHL | c.341-1406_*3377del c.*17+2087_*3573del c.340+2921_*3377del | ClinVar |
| 3 | g.10145132_10153366del | CA2499216378 | VHL | c.341-1382_*3401del c.*17+2111_*3597del c.340+2945_*3401del | ClinVar |
| 3 | g.10145585_10153156del | CA2499216380 | VHL | c.341-929_*3191del c.*17+2564_*3387del c.340+3398_*3191del | ClinVar |
| 3 | g.10146465_10152780del | CA2499216382 | VHL | c.341-49_*2815del c.*18-3322_*3011del c.341-3322_*2815del | ClinVar |
| 3 | g.10146480_10149909del | CA2581463488 | VHL | c.*18-34_*263del c.600-3307_722del c.341-34_697del c.341-34_586del c.341-3307_463del n.477-34_722del c.*18-3307_*140del | |
| 3 | g.10146514_10149967del | CA1139532108 | VHL | c.*18_*321del c.600-3273_780del c.341_*2del c.341-3273_*2del n.477_780del c.*18-3273_*198del | |
| 3 | g.10147075_10150956del | CA2499216384 | VHL | c.*140+439_*1310del c.600-2712_1769del c.463+439_*991del c.341-2712_*991del c.*18-2712_*1187del | ClinVar |
| 3 | g.10147644_10152768del | CA2499216385 | VHL | c.463+1008_*2803del c.*18-2143_*2999del c.341-2143_*2803del | ClinVar |
| 3 | g.10148440_10158273del | CA2499216386 | ClinVar | ||
| 3 | g.10148566_10158401del | CA2499216387 | ClinVar | ||
| 3 | g.10148561_10152736del | CA2499216388 | VHL | c.464-143_*2771del c.464-1226_*2771del c.*18-1226_*2967del c.341-1226_*2771del | ClinVar |
| 3 | g.10148615_10158450del | CA2499216389 | ClinVar | ||
| 3 | g.10149787_10149965del | CA2580612129 | VHL | c.*141_*319del (n.*141_*319del) c.600_778del (n.600_778del) c.575_753del (p.Val192GlufsTer?) c.464_642del (p.Val155GlufsTer?) c.341_519del (p.Val114GlufsTer?) n.600_778del c.*18_*196del (n.*18_*196del) | |
| 3 | g.10149796_10149821dup | CA645525044 | VHL | c.*150_*175dup (n.*150_*175dup) c.609_634dup (n.609_634dup) c.584_609dup (p.Arg204Ter) c.473_498dup (p.Arg167Ter) c.350_375dup (p.Arg126Ter) n.609_634dup c.*27_*52dup (n.*27_*52dup) | COSMIC |
| 3 | g.10149798_10149816del | CA2586965661 | VHL | c.*152_*170del (n.*152_*170del) c.611_629del (n.611_629del) c.586_604del (p.Lys196LeufsTer5) c.475_493del (p.Lys159LeufsTer5) c.352_370del (p.Lys118LeufsTer5) n.611_629del c.*29_*47del (n.*29_*47del) | |
| 3 | g.10149804_10149817dup | CA2573119327 | VHL | c.*158_*171dup (n.*158_*171dup) c.617_630dup (n.617_630dup) c.592_605dup (p.Val203AspfsTer9) c.481_494dup (p.Val166AspfsTer9) c.358_371dup (p.Val125AspfsTer9) n.617_630dup c.*35_*48dup (n.*35_*48dup) | |
| 3 | g.10149806_10149823dup | CA658655759 | VHL | c.*160_*177dup (n.*160_*177dup) c.619_636dup (n.619_636dup) c.594_611dup (p.Arg204_Ser205insCysLeuGlnValValArg) c.483_500dup (p.Arg167_Ser168insCysLeuGlnValValArg) c.360_377dup (p.Arg126_Ser127insCysLeuGlnValValArg) n.619_636dup c.*37_*54dup (n.*37_*54dup) | ClinVar dbSNP |
| 3 | g.10149806_10149814del | CA645525060 | VHL | c.*160_*168del (n.*160_*168del) c.619_627del (n.619_627del) c.594_602del (p.Cys199_Gln201del) c.483_491del (p.Cys162_Gln164del) c.360_368del (p.Cys121_Gln123del) n.619_627del c.*37_*45del (n.*37_*45del) | COSMIC |
| 3 | g.10149814A= | CA1345062292 | VHL | c.*168A= (n.*168A=) c.627A= (n.627A=) c.602A= (p.Gln201=) c.491A= (p.Gln164=) c.368A= (p.Gln123=) n.627A= c.*45A= (n.*45A=) | |
| 3 | g.10149814A>C | CA351756151 | VHL | c.*168A>C (n.*168A>C) c.627A>C (n.627A>C) c.602A>C (p.Gln201Pro) c.491A>C (p.Gln164Pro) c.368A>C (p.Gln123Pro) n.627A>C c.*45A>C (n.*45A>C) | COSMIC |
| 3 | g.10149814A>G | CA020429 | VHL | c.*168A>G (n.*168A>G) c.627A>G (n.627A>G) c.602A>G (p.Gln201Arg) c.491A>G (p.Gln164Arg) c.368A>G (p.Gln123Arg) n.627A>G c.*45A>G (n.*45A>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149814A>T | CA351756149 | VHL | c.*168A>T (n.*168A>T) c.627A>T (n.627A>T) c.602A>T (p.Gln201Leu) c.491A>T (p.Gln164Leu) c.368A>T (p.Gln123Leu) n.627A>T c.*45A>T (n.*45A>T) | dbSNP COSMIC |
| 3 | g.10149814_10149815del | CA645525066 | VHL | c.*168_*169del (n.*168_*169del) c.627_628del (n.627_628del) c.602_603del (p.Gln201ArgfsTer9) c.491_492del (p.Gln164ArgfsTer9) c.368_369del (p.Gln123ArgfsTer9) n.627_628del c.*45_*46del (n.*45_*46del) | COSMIC |
| 3 | g.10149814_10149815insC | CA432423215 | VHL | c.*168_*169insC (n.*168_*169insC) c.627_628insC (n.627_628insC) c.602_603insC (p.Gln201HisfsTer10) c.491_492insC (p.Gln164HisfsTer10) c.368_369insC (p.Gln123HisfsTer10) n.627_628insC c.*45_*46insC (n.*45_*46insC) | |
| 3 | g.10149815G>A | CA432423217 | VHL | c.*169G>A (n.*169G>A) c.628G>A (n.628G>A) c.603G>A (p.Gln201=) c.492G>A (p.Gln164=) c.369G>A (p.Gln123=) n.628G>A c.*46G>A (n.*46G>A) | dbSNP |
| 3 | g.10149815G>C | CA351756154 | VHL | c.*169G>C (n.*169G>C) c.628G>C (n.628G>C) c.603G>C (p.Gln201His) c.492G>C (p.Gln164His) c.369G>C (p.Gln123His) n.628G>C c.*46G>C (n.*46G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10149815G= | CA1345062301 | VHL | c.*169G= (n.*169G=) c.628G= (n.628G=) c.603G= (p.Gln201=) c.492G= (p.Gln164=) c.369G= (p.Gln123=) n.628G= c.*46G= (n.*46G=) | |
| 3 | g.10149815G>T | CA351756157 | VHL | c.*169G>T (n.*169G>T) c.628G>T (n.628G>T) c.603G>T (p.Gln201His) c.492G>T (p.Gln164His) c.369G>T (p.Gln123His) n.628G>T c.*46G>T (n.*46G>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149815_10149816del | CA645525067 | VHL | c.*169_*170del (n.*169_*170del) c.628_629del (n.628_629del) c.603_604del (p.Gln201HisfsTer9) c.492_493del (p.Gln164HisfsTer9) c.369_370del (p.Gln123HisfsTer9) n.628_629del c.*46_*47del (n.*46_*47del) | COSMIC |
| 3 | g.10149816del | CA432423224 | VHL | c.*170del (n.*170del) c.629del (n.629del) c.604del (p.Val202LeufsTer5) c.493del (p.Val165LeufsTer5) c.370del (p.Val124LeufsTer5) n.629del c.*47del (n.*47del) | ClinVar COSMIC |
| 3 | g.10149816G>A | CA351756159 | VHL | c.*170G>A (n.*170G>A) c.629G>A (n.629G>A) c.604G>A (p.Val202Ile) c.493G>A (p.Val165Ile) c.370G>A (p.Val124Ile) n.629G>A c.*47G>A (n.*47G>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149816G>C | CA351756161 | VHL | c.*170G>C (n.*170G>C) c.629G>C (n.629G>C) c.604G>C (p.Val202Leu) c.493G>C (p.Val165Leu) c.370G>C (p.Val124Leu) n.629G>C c.*47G>C (n.*47G>C) | dbSNP |
| 3 | g.10149816G= | CA1345062311 | VHL | c.*170G= (n.*170G=) c.629G= (n.629G=) c.604G= (p.Val202=) c.493G= (p.Val165=) c.370G= (p.Val124=) n.629G= c.*47G= (n.*47G=) | |
| 3 | g.10149816G>T | CA351756163 | VHL | c.*170G>T (n.*170G>T) c.629G>T (n.629G>T) c.604G>T (p.Val202Phe) c.493G>T (p.Val165Phe) c.370G>T (p.Val124Phe) n.629G>T c.*47G>T (n.*47G>T) | ClinVar dbSNP |
| 3 | g.10149818_10149820dup | CA645525068 | VHL | c.*172_*174dup (n.*172_*174dup) c.631_633dup (n.631_633dup) c.606_608dup (p.Val203_Arg204insVal) c.495_497dup (p.Val166_Arg167insVal) c.372_374dup (p.Val125_Arg126insVal) n.631_633dup c.*49_*51dup (n.*49_*51dup) | COSMIC |
| 3 | g.10149817T>A | CA351756165 | VHL | c.*171T>A (n.*171T>A) c.630T>A (n.630T>A) c.605T>A (p.Val202Asp) c.494T>A (p.Val165Asp) c.371T>A (p.Val124Asp) n.630T>A c.*48T>A (n.*48T>A) | dbSNP COSMIC |
| 3 | g.10149817T>C | CA351756167 | VHL | c.*171T>C (n.*171T>C) c.630T>C (n.630T>C) c.605T>C (p.Val202Ala) c.494T>C (p.Val165Ala) c.371T>C (p.Val124Ala) n.630T>C c.*48T>C (n.*48T>C) | dbSNP |
| 3 | g.10149817T>G | CA351756169 | VHL | c.*171T>G (n.*171T>G) c.630T>G (n.630T>G) c.605T>G (p.Val202Gly) c.494T>G (p.Val165Gly) c.371T>G (p.Val124Gly) n.630T>G c.*48T>G (n.*48T>G) | ClinVar dbSNP |
| 3 | g.10149817T= | CA1345062317 | VHL | c.*171T= (n.*171T=) c.630T= (n.630T=) c.605T= (p.Val202=) c.494T= (p.Val165=) c.371T= (p.Val124=) n.630T= c.*48T= (n.*48T=) | |
| 3 | g.10149818dup | CA432423236 | VHL | c.*172dup (n.*172dup) c.631dup (n.631dup) c.606dup (p.Val203CysfsTer8) c.495dup (p.Val166CysfsTer8) c.372dup (p.Val125CysfsTer8) n.631dup c.*49dup (n.*49dup) | COSMIC |
| 3 | g.10149817_10149818dup | CA645525069 | VHL | c.*171_*172dup (n.*171_*172dup) c.630_631dup (n.630_631dup) c.605_606dup (p.Val203LeufsTer5) c.494_495dup (p.Val166LeufsTer5) c.371_372dup (p.Val125LeufsTer5) n.630_631dup c.*48_*49dup (n.*48_*49dup) | COSMIC COSMIC |
| 3 | g.10149818del | CA432423234 | VHL | c.*172del (n.*172del) c.631del (n.631del) c.606del (p.Val203SerfsTer4) c.495del (p.Val166SerfsTer4) c.372del (p.Val125SerfsTer4) n.631del c.*49del (n.*49del) | COSMIC |
| 3 | g.10149817_10149828delinsTTGTCCGGAGCC | CA1345062315 | VHL | c.*171_*182delinsTTGTCCGGAGCC (n.*171_*182delinsTTGTCCGGAGCC) c.630_641delinsTTGTCCGGAGCC (n.630_641delinsTTGTCCGGAGCC) c.605_616delinsTTGTCCGGAGCC (p.Val202=) c.494_505delinsTTGTCCGGAGCC (p.Val165=) c.371_382delinsTTGTCCGGAGCC (p.Val124=) n.630_641delinsTTGTCCGGAGCC c.*48_*59delinsTTGTCCGGAGCC (n.*48_*59delinsTTGTCCGGAGCC) | |
| 3 | g.10149818T>A | CA432423244 | VHL | c.*172T>A (n.*172T>A) c.631T>A (n.631T>A) c.606T>A (p.Val202=) c.495T>A (p.Val165=) c.372T>A (p.Val124=) n.631T>A c.*49T>A (n.*49T>A) | ClinVar dbSNP |
| 3 | g.10149818T>C | CA432423247 | VHL | c.*172T>C (n.*172T>C) c.631T>C (n.631T>C) c.606T>C (p.Val202=) c.495T>C (p.Val165=) c.372T>C (p.Val124=) n.631T>C c.*49T>C (n.*49T>C) | |
| 3 | g.10149818T>G | CA432423249 | VHL | c.*172T>G (n.*172T>G) c.631T>G (n.631T>G) c.606T>G (p.Val202=) c.495T>G (p.Val165=) c.372T>G (p.Val124=) n.631T>G c.*49T>G (n.*49T>G) | |
| 3 | g.10149819_10149820del | CA645525070 | VHL | c.*173_*174del (n.*173_*174del) c.632_633del (n.632_633del) c.607_608del (p.Val203ProfsTer7) c.496_497del (p.Val166ProfsTer7) c.373_374del (p.Val125ProfsTer7) n.632_633del c.*50_*51del (n.*50_*51del) | COSMIC |