| 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_10149803del | CA2580068476 | VHL | c.*141_*157del c.600_616del c.575_591del c.464_480del c.341_357del n.600_616del c.*18_*34del | 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.10149798_10149803delinsT | CA645525050 | VHL | c.*152_*157delinsT (n.*152_*157delinsT) c.611_616delinsT (n.611_616delinsT) c.586_591delinsT (p.Lys196SerfsTer13) c.475_480delinsT (p.Lys159SerfsTer13) c.352_357delinsT (p.Lys118SerfsTer13) n.611_616delinsT c.*29_*34delinsT (n.*29_*34delinsT) | COSMIC |
| 3 | g.10149802_10149803dup | CA645525052 | VHL | c.*156_*157dup (n.*156_*157dup) c.615_616dup (n.615_616dup) c.590_591dup (p.Arg198SerfsTer10) c.479_480dup (p.Arg161SerfsTer10) c.356_357dup (p.Arg120SerfsTer10) n.615_616dup c.*33_*34dup (n.*33_*34dup) | COSMIC |
| 3 | g.10149802_10149803del | CA16621940 | VHL | c.*156_*157del (n.*156_*157del) c.615_616del (n.615_616del) c.590_591del (p.Glu197AlafsTer13) c.479_480del (p.Glu160AlafsTer13) c.356_357del (p.Glu119AlafsTer13) n.615_616del c.*33_*34del (n.*33_*34del) | |
| 3 | g.10149803_10149806del | CA645525054 | VHL | c.*157_*160del (n.*157_*160del) c.616_619del (n.616_619del) c.591_594del (p.Glu197AspfsTer9) c.480_483del (p.Glu160AspfsTer9) c.357_360del (p.Glu119AspfsTer9) n.616_619del c.*34_*37del (n.*34_*37del) | COSMIC COSMIC |
| 3 | g.10149802_10149807delinsAGCGAT | CA1345062211 | VHL | c.*156_*161delinsAGCGAT (n.*156_*161delinsAGCGAT) c.615_620delinsAGCGAT (n.615_620delinsAGCGAT) c.590_595delinsAGCGAT (p.Glu197=) c.479_484delinsAGCGAT (p.Glu160=) c.356_361delinsAGCGAT (p.Glu119=) n.615_620delinsAGCGAT c.*33_*38delinsAGCGAT (n.*33_*38delinsAGCGAT) | |
| 3 | g.10149803del | CA432423139 | VHL | c.*157del (n.*157del) c.616del (n.616del) c.591del (p.Glu197AspfsTer10) c.480del (p.Glu160AspfsTer10) c.357del (p.Glu119AspfsTer10) n.616del c.*34del (n.*34del) | COSMIC |
| 3 | g.10149803G>A | CA432423138 | VHL | c.*157G>A (n.*157G>A) c.616G>A (n.616G>A) c.591G>A (p.Glu197=) c.480G>A (p.Glu160=) c.357G>A (p.Glu119=) n.616G>A c.*34G>A (n.*34G>A) | ClinVar dbSNP |
| 3 | g.10149803G>C | CA351756101 | VHL | c.*157G>C (n.*157G>C) c.616G>C (n.616G>C) c.591G>C (p.Glu197Asp) c.480G>C (p.Glu160Asp) c.357G>C (p.Glu119Asp) n.616G>C c.*34G>C (n.*34G>C) | dbSNP |
| 3 | g.10149803G= | CA1345062216 | VHL | c.*157G= (n.*157G=) c.616G= (n.616G=) c.591G= (p.Glu197=) c.480G= (p.Glu160=) c.357G= (p.Glu119=) n.616G= c.*34G= (n.*34G=) | |
| 3 | g.10149803G>T | CA351756104 | VHL | c.*157G>T (n.*157G>T) c.616G>T (n.616G>T) c.591G>T (p.Glu197Asp) c.480G>T (p.Glu160Asp) c.357G>T (p.Glu119Asp) n.616G>T c.*34G>T (n.*34G>T) | |
| 3 | g.10149803dup | CA645525056 | VHL | c.*157dup (n.*157dup) c.616dup (n.616dup) c.591dup (p.Arg198AlafsTer13) c.480dup (p.Arg161AlafsTer13) c.357dup (p.Arg120AlafsTer13) n.616dup c.*34dup (n.*34dup) | COSMIC |
| 3 | g.10149804_10149805dup | CA645525057 | VHL | c.*158_*159dup (n.*158_*159dup) c.617_618dup (n.617_618dup) c.592_593dup (p.Cys199AspfsTer9) c.481_482dup (p.Cys162AspfsTer9) c.358_359dup (p.Cys121AspfsTer9) n.617_618dup c.*35_*36dup (n.*35_*36dup) | COSMIC |
| 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.10149804del | CA432423141 | VHL | c.*158del (n.*158del) c.617del (n.617del) c.592del (p.Arg198AspfsTer9) c.481del (p.Arg161AspfsTer9) c.358del (p.Arg120AspfsTer9) n.617del c.*35del (n.*35del) | COSMIC |
| 3 | g.10149804C>A | CA432423146 | VHL | c.*158C>A (n.*158C>A) c.617C>A (n.617C>A) c.592C>A (p.Arg198=) c.481C>A (p.Arg161=) c.358C>A (p.Arg120=) n.617C>A c.*35C>A (n.*35C>A) | |
| 3 | g.10149804C= | CA1345062224 | VHL | c.*158C= (n.*158C=) c.617C= (n.617C=) c.592C= (p.Arg198=) c.481C= (p.Arg161=) c.358C= (p.Arg120=) n.617C= c.*35C= (n.*35C=) | |
| 3 | g.10149804C>G | CA16621941 | VHL | c.*158C>G (n.*158C>G) c.617C>G (n.617C>G) c.592C>G (p.Arg198Gly) c.481C>G (p.Arg161Gly) c.358C>G (p.Arg120Gly) n.617C>G c.*35C>G (n.*35C>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149804C>T | CA020408 | VHL | c.*158C>T (n.*158C>T) c.617C>T (n.617C>T) c.592C>T (p.Arg198Ter) c.481C>T (p.Arg161Ter) c.358C>T (p.Arg120Ter) n.617C>T c.*35C>T (n.*35C>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149804dup | CA432423143 | VHL | c.*158dup (n.*158dup) c.617dup (n.617dup) c.592dup (p.Arg198ProfsTer13) c.481dup (p.Arg161ProfsTer13) c.358dup (p.Arg120ProfsTer13) n.617dup c.*35dup (n.*35dup) | COSMIC |
| 3 | g.10149804_10149806del | CA645525058 | VHL | c.*158_*160del (n.*158_*160del) c.617_619del (n.617_619del) c.592_594del (p.Arg198del) c.481_483del (p.Arg161del) c.358_360del (p.Arg120del) n.617_619del c.*35_*37del (n.*35_*37del) | COSMIC |
| 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.10149805G>A | CA020413 | VHL | c.*159G>A (n.*159G>A) c.618G>A (n.618G>A) c.593G>A (p.Arg198Gln) c.482G>A (p.Arg161Gln) c.359G>A (p.Arg120Gln) n.618G>A c.*36G>A (n.*36G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10149805G>C | CA351756111 | VHL | c.*159G>C (n.*159G>C) c.618G>C (n.618G>C) c.593G>C (p.Arg198Pro) c.482G>C (p.Arg161Pro) c.359G>C (p.Arg120Pro) n.618G>C c.*36G>C (n.*36G>C) | ClinVar dbSNP COSMIC |
| 3 | g.10149805G= | CA1345062235 | VHL | c.*159G= (n.*159G=) c.618G= (n.618G=) c.593G= (p.Arg198=) c.482G= (p.Arg161=) c.359G= (p.Arg120=) n.618G= c.*36G= (n.*36G=) | |
| 3 | g.10149805G>T | CA351756113 | VHL | c.*159G>T (n.*159G>T) c.618G>T (n.618G>T) c.593G>T (p.Arg198Leu) c.482G>T (p.Arg161Leu) c.359G>T (p.Arg120Leu) n.618G>T c.*36G>T (n.*36G>T) | dbSNP |
| 3 | g.10149805dup | CA432423150 | VHL | c.*159dup (n.*159dup) c.618dup (n.618dup) c.593dup (p.Cys199MetfsTer12) c.482dup (p.Cys162MetfsTer12) c.359dup (p.Cys121MetfsTer12) n.618dup c.*36dup (n.*36dup) | COSMIC |
| 3 | g.10149805_10149806del | CA645525059 | VHL | c.*159_*160del (n.*159_*160del) c.618_619del (n.618_619del) c.593_594del (p.Arg198LeufsTer12) c.482_483del (p.Arg161LeufsTer12) c.359_360del (p.Arg120LeufsTer12) n.618_619del c.*36_*37del (n.*36_*37del) | COSMIC |
| 3 | g.10149805_10149806delinsGA | CA1345062239 | VHL | c.*159_*160delinsGA (n.*159_*160delinsGA) c.618_619delinsGA (n.618_619delinsGA) c.593_594delinsGA (p.Arg198=) c.482_483delinsGA (p.Arg161=) c.359_360delinsGA (p.Arg120=) n.618_619delinsGA c.*36_*37delinsGA (n.*36_*37delinsGA) | |
| 3 | g.10149806_10149808dup | CA2573320436 | VHL | c.*160_*162dup (n.*160_*162dup) c.619_621dup (n.619_621dup) c.594_596dup (p.Cys199Ter) c.483_485dup (p.Cys162Ter) c.360_362dup (p.Cys121Ter) n.619_621dup c.*37_*39dup (n.*37_*39dup) |