| 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.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.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.10149819_10149829del | CA357119 | VHL | c.*173_*183del (n.*173_*183del) c.632_642del (n.632_642del) c.607_617del (p.Val203SerfsTer4) c.496_506del (p.Val166SerfsTer4) c.373_383del (p.Val125SerfsTer4) n.632_642del c.*50_*60del (n.*50_*60del) | ClinVar dbSNP |
| 3 | g.10149820_10149824del | CA645525071 | VHL | c.*174_*178del (n.*174_*178del) c.633_637del (n.633_637del) c.608_612del (p.Val203GlufsTer6) c.497_501del (p.Val166GlufsTer6) c.374_378del (p.Val125GlufsTer6) n.633_637del c.*51_*55del (n.*51_*55del) | COSMIC |
| 3 | g.10149821C>A | CA432423267 | VHL | c.*175C>A (n.*175C>A) c.634C>A (n.634C>A) c.609C>A (p.Val203=) c.498C>A (p.Val166=) c.375C>A (p.Val125=) n.634C>A c.*52C>A (n.*52C>A) | dbSNP |
| 3 | g.10149821C>G | CA432423269 | VHL | c.*175C>G (n.*175C>G) c.634C>G (n.634C>G) c.609C>G (p.Val203=) c.498C>G (p.Val166=) c.375C>G (p.Val125=) n.634C>G c.*52C>G (n.*52C>G) | dbSNP |
| 3 | g.10149821C>T | CA432423271 | VHL | c.*175C>T (n.*175C>T) c.634C>T (n.634C>T) c.609C>T (p.Val203=) c.498C>T (p.Val166=) c.375C>T (p.Val125=) n.634C>T c.*52C>T (n.*52C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149822del | CA432423273 | VHL | c.*176del (n.*176del) c.635del (n.635del) c.610del (p.Arg204GlyfsTer3) c.499del (p.Arg167GlyfsTer3) c.376del (p.Arg126GlyfsTer3) n.635del c.*53del (n.*53del) | COSMIC |
| 3 | g.10149822C>A | CA432423275 | VHL | c.*176C>A (n.*176C>A) c.635C>A (n.635C>A) c.610C>A (p.Arg204=) c.499C>A (p.Arg167=) c.376C>A (p.Arg126=) n.635C>A c.*53C>A (n.*53C>A) | |
| 3 | g.10149822C= | CA1345062339 | VHL | c.*176C= (n.*176C=) c.635C= (n.635C=) c.610C= (p.Arg204=) c.499C= (p.Arg167=) c.376C= (p.Arg126=) n.635C= c.*53C= (n.*53C=) | |
| 3 | g.10149822C>G | CA020446 | VHL | c.*176C>G (n.*176C>G) c.635C>G (n.635C>G) c.610C>G (p.Arg204Gly) c.499C>G (p.Arg167Gly) c.376C>G (p.Arg126Gly) n.635C>G c.*53C>G (n.*53C>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149822C>T | CA020450 | VHL | c.*176C>T (n.*176C>T) c.635C>T (n.635C>T) c.610C>T (p.Arg204Trp) c.499C>T (p.Arg167Trp) c.376C>T (p.Arg126Trp) n.635C>T c.*53C>T (n.*53C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10149822_10149823del | CA645525072 | VHL | c.*176_*177del (n.*176_*177del) c.635_636del (n.635_636del) c.610_611del (p.Arg204GlufsTer6) c.499_500del (p.Arg167GlufsTer6) c.376_377del (p.Arg126GlufsTer6) n.635_636del c.*53_*54del (n.*53_*54del) | COSMIC |
| 3 | g.10149822_10149827delinsT | CA16621943 | VHL | c.*176_*181delinsT (n.*176_*181delinsT) c.635_640delinsT (n.635_640delinsT) c.610_615delinsT (p.Arg204SerfsTer5) c.499_504delinsT (p.Arg167SerfsTer5) c.376_381delinsT (p.Arg126SerfsTer5) n.635_640delinsT c.*53_*58delinsT (n.*53_*58delinsT) | |
| 3 | g.10149823G>A | CA020454 | VHL | c.*177G>A (n.*177G>A) c.636G>A (n.636G>A) c.611G>A (p.Arg204Gln) c.500G>A (p.Arg167Gln) c.377G>A (p.Arg126Gln) n.636G>A c.*54G>A (n.*54G>A) | ClinVar dbSNP gnomAD v2 COSMIC |
| 3 | g.10149823G>C | CA351756177 | VHL | c.*177G>C (n.*177G>C) c.636G>C (n.636G>C) c.611G>C (p.Arg204Pro) c.500G>C (p.Arg167Pro) c.377G>C (p.Arg126Pro) n.636G>C c.*54G>C (n.*54G>C) | ClinVar dbSNP |
| 3 | g.10149823G= | CA1345062348 | VHL | c.*177G= (n.*177G=) c.636G= (n.636G=) c.611G= (p.Arg204=) c.500G= (p.Arg167=) c.377G= (p.Arg126=) n.636G= c.*54G= (n.*54G=) | |
| 3 | g.10149823G>T | CA351756178 | VHL | c.*177G>T (n.*177G>T) c.636G>T (n.636G>T) c.611G>T (p.Arg204Leu) c.500G>T (p.Arg167Leu) c.377G>T (p.Arg126Leu) n.636G>T c.*54G>T (n.*54G>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149823_10149824del | CA645525073 | VHL | c.*177_*178del (n.*177_*178del) c.636_637del (n.636_637del) c.611_612del (p.Arg204GlnfsTer6) c.500_501del (p.Arg167GlnfsTer6) c.377_378del (p.Arg126GlnfsTer6) n.636_637del c.*54_*55del (n.*54_*55del) | COSMIC |
| 3 | g.10149824del | CA432423283 | VHL | c.*178del (n.*178del) c.637del (n.637del) c.612del (p.Ser205AlafsTer2) c.501del (p.Ser168AlafsTer2) c.378del (p.Ser127AlafsTer2) n.637del c.*55del (n.*55del) | COSMIC COSMIC |
| 3 | g.10149824G>A | CA432423286 | VHL | c.*178G>A (n.*178G>A) c.637G>A (n.637G>A) c.612G>A (p.Arg204=) c.501G>A (p.Arg167=) c.378G>A (p.Arg126=) n.637G>A c.*55G>A (n.*55G>A) | dbSNP COSMIC |
| 3 | g.10149824G>C | CA432423288 | VHL | c.*178G>C (n.*178G>C) c.637G>C (n.637G>C) c.612G>C (p.Arg204=) c.501G>C (p.Arg167=) c.378G>C (p.Arg126=) n.637G>C c.*55G>C (n.*55G>C) | ClinVar dbSNP |
| 3 | g.10149824G= | CA1345062357 | VHL | c.*178G= (n.*178G=) c.637G= (n.637G=) c.612G= (p.Arg204=) c.501G= (p.Arg167=) c.378G= (p.Arg126=) n.637G= c.*55G= (n.*55G=) | |
| 3 | g.10149824G>T | CA432423289 | VHL | c.*178G>T (n.*178G>T) c.637G>T (n.637G>T) c.612G>T (p.Arg204=) c.501G>T (p.Arg167=) c.378G>T (p.Arg126=) n.637G>T c.*55G>T (n.*55G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10149827_10149842del | CA2499216391 | VHL | c.*181_*196del (n.*181_*196del) c.640_655del (n.640_655del) c.615_630del (p.Ser205ArgfsTer29) c.504_519del (p.Ser168ArgfsTer29) c.381_396del (p.Ser127ArgfsTer29) n.640_655del c.*58_*73del (n.*58_*73del) | ClinVar dbSNP |
| 3 | g.10149824_10149825insTTGTCCGT | CA020458 | VHL | c.*178_*179insTTGTCCGT (n.*178_*179insTTGTCCGT) c.637_638insTTGTCCGT (n.637_638insTTGTCCGT) c.612_613insTTGTCCGT (p.Ser205LeufsTer5) c.501_502insTTGTCCGT (p.Ser168LeufsTer5) c.378_379insTTGTCCGT (p.Ser127LeufsTer5) n.637_638insTTGTCCGT c.*55_*56insTTGTCCGT (n.*55_*56insTTGTCCGT) | ClinVar dbSNP |
| 3 | g.10149825A>C | CA351756179 | VHL | c.*179A>C (n.*179A>C) c.638A>C (n.638A>C) c.613A>C (p.Ser205Arg) c.502A>C (p.Ser168Arg) c.379A>C (p.Ser127Arg) n.638A>C c.*56A>C (n.*56A>C) | |
| 3 | g.10149825A>G | CA351756180 | VHL | c.*179A>G (n.*179A>G) c.638A>G (n.638A>G) c.613A>G (p.Ser205Gly) c.502A>G (p.Ser168Gly) c.379A>G (p.Ser127Gly) n.638A>G c.*56A>G (n.*56A>G) | dbSNP |
| 3 | g.10149825A>T | CA351756181 | VHL | c.*179A>T (n.*179A>T) c.638A>T (n.638A>T) c.613A>T (p.Ser205Cys) c.502A>T (p.Ser168Cys) c.379A>T (p.Ser127Cys) n.638A>T c.*56A>T (n.*56A>T) | dbSNP COSMIC |
| 3 | g.10149830_10149839del | CA645525074 | VHL | c.*184_*193del (n.*184_*193del) c.643_652del (n.643_652del) c.618_627del (p.Val207ArgfsTer29) c.507_516del (p.Val170ArgfsTer29) c.384_393del (p.Val129ArgfsTer29) n.643_652del c.*61_*70del (n.*61_*70del) | COSMIC COSMIC |
| 3 | g.10149825_10149826insTTGTTCGT | CA2573051075 | VHL | c.*179_*180insTTGTTCGT (n.*179_*180insTTGTTCGT) c.638_639insTTGTTCGT (n.638_639insTTGTTCGT) c.613_614insTTGTTCGT (p.Ser205IlefsTer5) c.502_503insTTGTTCGT (p.Ser168IlefsTer5) c.379_380insTTGTTCGT (p.Ser127IlefsTer5) n.638_639insTTGTTCGT c.*56_*57insTTGTTCGT (n.*56_*57insTTGTTCGT) | |
| 3 | g.10149826del | CA432423300 | VHL | c.*180del (n.*180del) c.639del (n.639del) c.614del (p.Ser205ThrfsTer2) c.503del (p.Ser168ThrfsTer2) c.380del (p.Ser127ThrfsTer2) n.639del c.*57del (n.*57del) | COSMIC |
| 3 | g.10149826G>A | CA351756182 | VHL | c.*180G>A (n.*180G>A) c.639G>A (n.639G>A) c.614G>A (p.Ser205Asn) c.503G>A (p.Ser168Asn) c.380G>A (p.Ser127Asn) n.639G>A c.*57G>A (n.*57G>A) | ClinVar dbSNP |