| 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.10149795_10149813del | CA645525046 | VHL | c.*149_*167del (n.*149_*167del) c.608_626del (n.608_626del) c.583_601del (p.Leu195ArgfsTer6) c.472_490del (p.Leu158ArgfsTer6) c.349_367del (p.Leu117ArgfsTer6) n.608_626del c.*26_*44del (n.*26_*44del) | 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.10149805_10149809del | CA16617791 | VHL | c.*159_*163del (n.*159_*163del) c.618_622del (n.618_622del) c.593_597del (p.Arg198ProfsTer11) c.482_486del (p.Arg161ProfsTer11) c.359_363del (p.Arg120ProfsTer11) n.618_622del c.*36_*40del (n.*36_*40del) | ClinVar dbSNP |
| 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.10149808_10149809delinsTT | CA2740090901 | VHL | c.*162_*163delinsTT (n.*162_*163delinsTT) c.621_622delinsTT (n.621_622delinsTT) c.596_597delinsTT (p.Cys199Phe) c.485_486delinsTT (p.Cys162Phe) c.362_363delinsTT (p.Cys121Phe) n.621_622delinsTT c.*39_*40delinsTT (n.*39_*40delinsTT) | ClinVar |
| 3 | g.10149809C>A | CA357112 | VHL | c.*163C>A (n.*163C>A) c.622C>A (n.622C>A) c.597C>A (p.Cys199Ter) c.486C>A (p.Cys162Ter) c.363C>A (p.Cys121Ter) n.622C>A c.*40C>A (n.*40C>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149809C= | CA1345062264 | VHL | c.*163C= (n.*163C=) c.622C= (n.622C=) c.597C= (p.Cys199=) c.486C= (p.Cys162=) c.363C= (p.Cys121=) n.622C= c.*40C= (n.*40C=) | |
| 3 | g.10149809C>G | CA357016 | VHL | c.*163C>G (n.*163C>G) c.622C>G (n.622C>G) c.597C>G (p.Cys199Trp) c.486C>G (p.Cys162Trp) c.363C>G (p.Cys121Trp) n.622C>G c.*40C>G (n.*40C>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149809C>T | CA432423181 | VHL | c.*163C>T (n.*163C>T) c.622C>T (n.622C>T) c.597C>T (p.Cys199=) c.486C>T (p.Cys162=) c.363C>T (p.Cys121=) n.622C>T c.*40C>T (n.*40C>T) | dbSNP |
| 3 | g.10149809_10149810del | CA645525062 | VHL | c.*163_*164del (n.*163_*164del) c.622_623del (n.622_623del) c.597_598del (p.Leu200ProfsTer10) c.486_487del (p.Leu163ProfsTer10) c.363_364del (p.Leu122ProfsTer10) n.622_623del c.*40_*41del (n.*40_*41del) | COSMIC |
| 3 | g.10149810del | CA432423177 | VHL | c.*164del (n.*164del) c.623del (n.623del) c.598del (p.Leu200SerfsTer7) c.487del (p.Leu163SerfsTer7) c.364del (p.Leu122SerfsTer7) n.623del c.*41del (n.*41del) | COSMIC |
| 3 | g.10149809_10149813del | CA645525063 | VHL | c.*163_*167del (n.*163_*167del) c.622_626del (n.622_626del) c.597_601del (p.Cys199Ter) c.486_490del (p.Cys162Ter) c.363_367del (p.Cys121Ter) n.622_626del c.*40_*44del (n.*40_*44del) | COSMIC |
| 3 | g.10149810C>A | CA351756131 | VHL | c.*164C>A (n.*164C>A) c.623C>A (n.623C>A) c.598C>A (p.Leu200Ile) c.487C>A (p.Leu163Ile) c.364C>A (p.Leu122Ile) n.623C>A c.*41C>A (n.*41C>A) | ClinVar gnomAD v4 |
| 3 | g.10149810C= | CA1345062267 | VHL | c.*164C= (n.*164C=) c.623C= (n.623C=) c.598C= (p.Leu200=) c.487C= (p.Leu163=) c.364C= (p.Leu122=) n.623C= c.*41C= (n.*41C=) | |
| 3 | g.10149810C>G | CA351756132 | VHL | c.*164C>G (n.*164C>G) c.623C>G (n.623C>G) c.598C>G (p.Leu200Val) c.487C>G (p.Leu163Val) c.364C>G (p.Leu122Val) n.623C>G c.*41C>G (n.*41C>G) | dbSNP |
| 3 | g.10149810C>T | CA351756135 | VHL | c.*164C>T (n.*164C>T) c.623C>T (n.623C>T) c.598C>T (p.Leu200Phe) c.487C>T (p.Leu163Phe) c.364C>T (p.Leu122Phe) n.623C>T c.*41C>T (n.*41C>T) | ClinVar dbSNP |
| 3 | g.10149811del | CA432423191 | VHL | c.*165del (n.*165del) c.624del (n.624del) c.599del (p.Leu200ProfsTer7) c.488del (p.Leu163ProfsTer7) c.365del (p.Leu122ProfsTer7) n.624del c.*42del (n.*42del) | COSMIC |
| 3 | g.10149811T>A | CA351756137 | VHL | c.*165T>A (n.*165T>A) c.624T>A (n.624T>A) c.599T>A (p.Leu200His) c.488T>A (p.Leu163His) c.365T>A (p.Leu122His) n.624T>A c.*42T>A (n.*42T>A) | COSMIC |
| 3 | g.10149811T>C | CA020423 | VHL | c.*165T>C (n.*165T>C) c.624T>C (n.624T>C) c.599T>C (p.Leu200Pro) c.488T>C (p.Leu163Pro) c.365T>C (p.Leu122Pro) n.624T>C c.*42T>C (n.*42T>C) | ClinVar dbSNP COSMIC |
| 3 | g.10149811T>G | CA16611277 | VHL | c.*165T>G (n.*165T>G) c.624T>G (n.624T>G) c.599T>G (p.Leu200Arg) c.488T>G (p.Leu163Arg) c.365T>G (p.Leu122Arg) n.624T>G c.*42T>G (n.*42T>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149811T= | CA1345062274 | VHL | c.*165T= (n.*165T=) c.624T= (n.624T=) c.599T= (p.Leu200=) c.488T= (p.Leu163=) c.365T= (p.Leu122=) n.624T= c.*42T= (n.*42T=) | |
| 3 | g.10149811_10149812delinsCT | CA645525064 | VHL | c.*165_*166delinsCT (n.*165_*166delinsCT) c.624_625delinsCT (n.624_625delinsCT) c.599_600delinsCT (p.Leu200Pro) c.488_489delinsCT (p.Leu163Pro) c.365_366delinsCT (p.Leu122Pro) n.624_625delinsCT c.*42_*43delinsCT (n.*42_*43delinsCT) | COSMIC |
| 3 | g.10149812C>A | CA432423193 | VHL | c.*166C>A (n.*166C>A) c.625C>A (n.625C>A) c.600C>A (p.Leu200=) c.489C>A (p.Leu163=) c.366C>A (p.Leu122=) n.625C>A c.*43C>A (n.*43C>A) | |
| 3 | g.10149812C= | CA1345062281 | VHL | c.*166C= (n.*166C=) c.625C= (n.625C=) c.600C= (p.Leu200=) c.489C= (p.Leu163=) c.366C= (p.Leu122=) n.625C= c.*43C= (n.*43C=) | |
| 3 | g.10149812C>G | CA432423195 | VHL | c.*166C>G (n.*166C>G) c.625C>G (n.625C>G) c.600C>G (p.Leu200=) c.489C>G (p.Leu163=) c.366C>G (p.Leu122=) n.625C>G c.*43C>G (n.*43C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149812C>T | CA432423198 | VHL | c.*166C>T (n.*166C>T) c.625C>T (n.625C>T) c.600C>T (p.Leu200=) c.489C>T (p.Leu163=) c.366C>T (p.Leu122=) n.625C>T c.*43C>T (n.*43C>T) | dbSNP |
| 3 | g.10149813dup | CA645525065 | VHL | c.*167dup (n.*167dup) c.626dup (n.626dup) c.601dup (p.Gln201ProfsTer10) c.490dup (p.Gln164ProfsTer10) c.367dup (p.Gln123ProfsTer10) n.626dup c.*44dup (n.*44dup) | COSMIC |
| 3 | g.10149813C>A | CA351756143 | VHL | c.*167C>A (n.*167C>A) c.626C>A (n.626C>A) c.601C>A (p.Gln201Lys) c.490C>A (p.Gln164Lys) c.367C>A (p.Gln123Lys) n.626C>A c.*44C>A (n.*44C>A) | ClinVar dbSNP |
| 3 | g.10149813C= | CA1345062287 | VHL | c.*167C= (n.*167C=) c.626C= (n.626C=) c.601C= (p.Gln201=) c.490C= (p.Gln164=) c.367C= (p.Gln123=) n.626C= c.*44C= (n.*44C=) | |
| 3 | g.10149813C>G | CA351756145 | VHL | c.*167C>G (n.*167C>G) c.626C>G (n.626C>G) c.601C>G (p.Gln201Glu) c.490C>G (p.Gln164Glu) c.367C>G (p.Gln123Glu) n.626C>G c.*44C>G (n.*44C>G) | ClinVar dbSNP |
| 3 | g.10149813C>T | CA357060 | VHL | c.*167C>T (n.*167C>T) c.626C>T (n.626C>T) c.601C>T (p.Gln201Ter) c.490C>T (p.Gln164Ter) c.367C>T (p.Gln123Ter) n.626C>T c.*44C>T (n.*44C>T) | ClinVar dbSNP COSMIC |