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_10149801del | CA645525022 | VHL | c.*141_*155del c.600_614del c.575_589del c.464_478del c.341_355del n.600_614del c.*18_*32del | COSMIC |
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.10149799_10149802del | CA645525049 | VHL | c.*153_*156del (n.*153_*156del) c.612_615del (n.612_615del) c.587_590del (p.Lys196SerfsTer10) c.476_479del (p.Lys159SerfsTer10) c.353_356del (p.Lys118SerfsTer10) n.612_615del c.*30_*33del (n.*30_*33del) | 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.10149800_10149802del | CA645525051 | VHL | c.*154_*156del (n.*154_*156del) c.613_615del (n.613_615del) c.588_590del (p.Glu197del) c.477_479del (p.Glu160del) c.354_356del (p.Glu119del) n.613_615del c.*31_*33del (n.*31_*33del) | 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.10149801G>A | CA351756092 | VHL | c.*155G>A (n.*155G>A) c.614G>A (n.614G>A) c.589G>A (p.Glu197Lys) c.478G>A (p.Glu160Lys) c.355G>A (p.Glu119Lys) n.614G>A c.*32G>A (n.*32G>A) | ClinVar dbSNP COSMIC |
3 | g.10149801G>C | CA351756093 | VHL | c.*155G>C (n.*155G>C) c.614G>C (n.614G>C) c.589G>C (p.Glu197Gln) c.478G>C (p.Glu160Gln) c.355G>C (p.Glu119Gln) n.614G>C c.*32G>C (n.*32G>C) | ClinVar dbSNP gnomAD v4 |
3 | g.10149801G= | CA1345062206 | VHL | c.*155G= (n.*155G=) c.614G= (n.614G=) c.589G= (p.Glu197=) c.478G= (p.Glu160=) c.355G= (p.Glu119=) n.614G= c.*32G= (n.*32G=) | |
3 | g.10149801G>T | CA351756095 | VHL | c.*155G>T (n.*155G>T) c.614G>T (n.614G>T) c.589G>T (p.Glu197Ter) c.478G>T (p.Glu160Ter) c.355G>T (p.Glu119Ter) n.614G>T c.*32G>T (n.*32G>T) | dbSNP COSMIC |
3 | g.10149801delinsTC | CA645525055 | VHL | c.*155delinsTC (n.*155delinsTC) c.614delinsTC (n.614delinsTC) c.589delinsTC (p.Glu197SerfsTer14) c.478delinsTC (p.Glu160SerfsTer14) c.355delinsTC (p.Glu119SerfsTer14) n.614delinsTC c.*32delinsTC (n.*32delinsTC) | COSMIC |
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.10149802A= | CA1345062208 | VHL | c.*156A= (n.*156A=) c.615A= (n.615A=) c.590A= (p.Glu197=) c.479A= (p.Glu160=) c.356A= (p.Glu119=) n.615A= c.*33A= (n.*33A=) | |
3 | g.10149802A>C | CA351756096 | VHL | c.*156A>C (n.*156A>C) c.615A>C (n.615A>C) c.590A>C (p.Glu197Ala) c.479A>C (p.Glu160Ala) c.356A>C (p.Glu119Ala) n.615A>C c.*33A>C (n.*33A>C) | |
3 | g.10149802A>G | CA351756098 | VHL | c.*156A>G (n.*156A>G) c.615A>G (n.615A>G) c.590A>G (p.Glu197Gly) c.479A>G (p.Glu160Gly) c.356A>G (p.Glu119Gly) n.615A>G c.*33A>G (n.*33A>G) | |
3 | g.10149802A>T | CA279917 | VHL | c.*156A>T (n.*156A>T) c.615A>T (n.615A>T) c.590A>T (p.Glu197Val) c.479A>T (p.Glu160Val) c.356A>T (p.Glu119Val) n.615A>T c.*33A>T (n.*33A>T) | ClinVar dbSNP |
3 | g.10149802dup | CA432423136 | VHL | c.*156dup (n.*156dup) c.615dup (n.615dup) c.590dup (p.Arg198AlafsTer13) c.479dup (p.Arg161AlafsTer13) c.356dup (p.Arg120AlafsTer13) n.615dup c.*33dup (n.*33dup) | |
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 |