| 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.10149852_10149869dup | CA2580068485 | VHL | c.*206_*223dup (n.*206_*223dup) c.665_682dup (n.665_682dup) c.640_657dup (p.Arg219_Ser220insArgLeuAspIleValArg) c.529_546dup (p.Arg182_Ser183insArgLeuAspIleValArg) c.406_423dup (p.Arg141_Ser142insArgLeuAspIleValArg) n.665_682dup c.*83_*100dup (n.*83_*100dup) | ClinVar |
| 3 | g.10149853_10149865delinsGACTGGACATCGT | CA1345062496 | VHL | c.*207_*219delinsGACTGGACATCGT (n.*207_*219delinsGACTGGACATCGT) c.666_678delinsGACTGGACATCGT (n.666_678delinsGACTGGACATCGT) c.641_653delinsGACTGGACATCGT (p.Arg214=) c.530_542delinsGACTGGACATCGT (p.Arg177=) c.407_419delinsGACTGGACATCGT (p.Arg136=) n.666_678delinsGACTGGACATCGT c.*84_*96delinsGACTGGACATCGT (n.*84_*96delinsGACTGGACATCGT) | |
| 3 | g.10149854_10149865delinsTC | CA658822549 | VHL | c.*208_*219delinsTC (n.*208_*219delinsTC) c.667_678delinsTC (n.667_678delinsTC) c.642_653delinsTC (p.Arg214SerfsTer22) c.531_542delinsTC (p.Arg177SerfsTer22) c.408_419delinsTC (p.Arg136SerfsTer22) n.667_678delinsTC c.*85_*96delinsTC (n.*85_*96delinsTC) | ClinVar dbSNP |
| 3 | g.10149854_10149867del | CA2573105861 | VHL | c.*208_*221del (n.*208_*221del) c.667_680del (n.667_680del) c.642_655del (p.Leu215ValfsTer?) c.531_544del (p.Leu178ValfsTer?) c.408_421del (p.Leu137ValfsTer?) n.667_680del c.*85_*98del (n.*85_*98del) | |
| 3 | g.10149855_10149865delinsATTA | CA2499306820 | VHL | c.*209_*219delinsATTA (n.*209_*219delinsATTA) c.668_678delinsATTA (n.668_678delinsATTA) c.643_653delinsATTA (p.Leu215IlefsTer22) c.532_542delinsATTA (p.Leu178IlefsTer22) c.409_419delinsATTA (p.Leu137IlefsTer22) n.668_678delinsATTA c.*86_*96delinsATTA (n.*86_*96delinsATTA) | |
| 3 | g.10149856_10149867del | CA645529525 | VHL | c.*210_*221del (n.*210_*221del) c.669_680del (n.669_680del) c.644_655del (p.Leu215_Val218del) c.533_544del (p.Leu178_Val181del) c.410_421del (p.Leu137_Val140del) n.669_680del c.*87_*98del (n.*87_*98del) | COSMIC |
| 3 | g.10149862_10149866delinsTCGTC | CA1345062542 | VHL | c.*216_*220delinsTCGTC (n.*216_*220delinsTCGTC) c.675_679delinsTCGTC (n.675_679delinsTCGTC) c.650_654delinsTCGTC (p.Ile217=) c.539_543delinsTCGTC (p.Ile180=) c.416_420delinsTCGTC (p.Ile139=) n.675_679delinsTCGTC c.*93_*97delinsTCGTC (n.*93_*97delinsTCGTC) | |
| 3 | g.10149863_10149866del | CA357022 | VHL | c.*217_*220del (n.*217_*220del) c.676_679del (n.676_679del) c.651_654del (p.Val218GlyfsTer20) c.540_543del (p.Val181GlyfsTer20) c.417_420del (p.Val140GlyfsTer20) n.676_679del c.*94_*97del (n.*94_*97del) | ClinVar dbSNP |
| 3 | g.10149863_10149867delinsT | CA645529530 | VHL | c.*217_*221delinsT (n.*217_*221delinsT) c.676_680delinsT (n.676_680delinsT) c.651_655delinsT (p.Val218GlyfsTer20) c.540_544delinsT (p.Val181GlyfsTer20) c.417_421delinsT (p.Val140GlyfsTer20) n.676_680delinsT c.*94_*98delinsT (n.*94_*98delinsT) | COSMIC |
| 3 | g.10149865_10149868del | CA645529533 | VHL | c.*219_*222del (n.*219_*222del) c.678_681del (n.678_681del) c.653_656del (p.Val218GlyfsTer20) c.542_545del (p.Val181GlyfsTer20) c.419_422del (p.Val140GlyfsTer20) n.678_681del c.*96_*99del (n.*96_*99del) | COSMIC |
| 3 | g.10149864_10149870del | CA645529532 | VHL | c.*218_*224del (n.*218_*224del) c.677_683del (n.677_683del) c.652_658del (p.Val218ArgfsTer19) c.541_547del (p.Val181ArgfsTer19) c.418_424del (p.Val140ArgfsTer19) n.677_683del c.*95_*101del (n.*95_*101del) | COSMIC |
| 3 | g.10149865T>A | CA351756304 | VHL | c.*219T>A (n.*219T>A) c.678T>A (n.678T>A) c.653T>A (p.Val218Asp) c.542T>A (p.Val181Asp) c.419T>A (p.Val140Asp) n.678T>A c.*96T>A (n.*96T>A) | dbSNP |
| 3 | g.10149865T>C | CA351756307 | VHL | c.*219T>C (n.*219T>C) c.678T>C (n.678T>C) c.653T>C (p.Val218Ala) c.542T>C (p.Val181Ala) c.419T>C (p.Val140Ala) n.678T>C c.*96T>C (n.*96T>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149865T>G | CA351756301 | VHL | c.*219T>G (n.*219T>G) c.678T>G (n.678T>G) c.653T>G (p.Val218Gly) c.542T>G (p.Val181Gly) c.419T>G (p.Val140Gly) n.678T>G c.*96T>G (n.*96T>G) | dbSNP |
| 3 | g.10149865T= | CA1345062574 | VHL | c.*219T= (n.*219T=) c.678T= (n.678T=) c.653T= (p.Val218=) c.542T= (p.Val181=) c.419T= (p.Val140=) n.678T= c.*96T= (n.*96T=) | |
| 3 | g.10149866C>A | CA432423555 | VHL | c.*220C>A (n.*220C>A) c.679C>A (n.679C>A) c.654C>A (p.Val218=) c.543C>A (p.Val181=) c.420C>A (p.Val140=) n.679C>A c.*97C>A (n.*97C>A) | dbSNP |
| 3 | g.10149866C>G | CA432423557 | VHL | c.*220C>G (n.*220C>G) c.679C>G (n.679C>G) c.654C>G (p.Val218=) c.543C>G (p.Val181=) c.420C>G (p.Val140=) n.679C>G c.*97C>G (n.*97C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10149866C>T | CA432423559 | VHL | c.*220C>T (n.*220C>T) c.679C>T (n.679C>T) c.654C>T (p.Val218=) c.543C>T (p.Val181=) c.420C>T (p.Val140=) n.679C>T c.*97C>T (n.*97C>T) | dbSNP gnomAD v4 |
| 3 | g.10149866dup | CA645369326 | VHL | c.*220dup (n.*220dup) c.679dup (n.679dup) c.654dup (p.Arg219GlnfsTer?) c.543dup (p.Arg182GlnfsTer?) c.420dup (p.Arg141GlnfsTer?) n.679dup c.*97dup (n.*97dup) | ClinVar dbSNP |
| 3 | g.10149866_10149867insT | CA645529536 | VHL | c.*220_*221insT (n.*220_*221insT) c.679_680insT (n.679_680insT) c.654_655insT (p.Arg219Ter) c.543_544insT (p.Arg182Ter) c.420_421insT (p.Arg141Ter) n.679_680insT c.*97_*98insT (n.*97_*98insT) | COSMIC |
| 3 | g.10149867del | CA645529535 | VHL | c.*221del (n.*221del) c.680del (n.680del) c.655del (p.Arg219GlyfsTer20) c.544del (p.Arg182GlyfsTer20) c.421del (p.Arg141GlyfsTer20) n.680del c.*98del (n.*98del) | COSMIC |
| 3 | g.10149867A= | CA1345062589 | VHL | c.*221A= (n.*221A=) c.680A= (n.680A=) c.655A= (p.Arg219=) c.544A= (p.Arg182=) c.421A= (p.Arg141=) n.680A= c.*98A= (n.*98A=) | |
| 3 | g.10149867A>C | CA432423561 | VHL | c.*221A>C (n.*221A>C) c.680A>C (n.680A>C) c.655A>C (p.Arg219=) c.544A>C (p.Arg182=) c.421A>C (p.Arg141=) n.680A>C c.*98A>C (n.*98A>C) | |
| 3 | g.10149867A>G | CA041490 | VHL | c.*221A>G (n.*221A>G) c.680A>G (n.680A>G) c.655A>G (p.Arg219Gly) c.544A>G (p.Arg182Gly) c.421A>G (p.Arg141Gly) n.680A>G c.*98A>G (n.*98A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149867A>T | CA351756310 | VHL | c.*221A>T (n.*221A>T) c.680A>T (n.680A>T) c.655A>T (p.Arg219Trp) c.544A>T (p.Arg182Trp) c.421A>T (p.Arg141Trp) n.680A>T c.*98A>T (n.*98A>T) | |
| 3 | g.10149867_10149868del | CA645529534 | VHL | c.*221_*222del (n.*221_*222del) c.680_681del (n.680_681del) c.655_656del (p.Arg219ValfsTer?) c.544_545del (p.Arg182ValfsTer?) c.421_422del (p.Arg141ValfsTer?) n.680_681del c.*98_*99del (n.*98_*99del) | COSMIC |
| 3 | g.10149867_10149868delinsAG | CA1345062585 | VHL | c.*221_*222delinsAG (n.*221_*222delinsAG) c.680_681delinsAG (n.680_681delinsAG) c.655_656delinsAG (p.Arg219=) c.544_545delinsAG (p.Arg182=) c.421_422delinsAG (p.Arg141=) n.680_681delinsAG c.*98_*99delinsAG (n.*98_*99delinsAG) | |
| 3 | g.10149867_10149868insT | CA432423576 | VHL | c.*221_*222insT (n.*221_*222insT) c.680_681insT (n.680_681insT) c.655_656insT (p.Arg219MetfsTer?) c.544_545insT (p.Arg182MetfsTer?) c.421_422insT (p.Arg141MetfsTer?) n.680_681insT c.*98_*99insT (n.*98_*99insT) | |
| 3 | g.10149868G>A | CA041507 | VHL | c.*222G>A (n.*222G>A) c.681G>A (n.681G>A) c.656G>A (p.Arg219Lys) c.545G>A (p.Arg182Lys) c.422G>A (p.Arg141Lys) n.681G>A c.*99G>A (n.*99G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.10149868G>C | CA351756315 | VHL | c.*222G>C (n.*222G>C) c.681G>C (n.681G>C) c.656G>C (p.Arg219Thr) c.545G>C (p.Arg182Thr) c.422G>C (p.Arg141Thr) n.681G>C c.*99G>C (n.*99G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10149868G= | CA1345062597 | VHL | c.*222G= (n.*222G=) c.681G= (n.681G=) c.656G= (p.Arg219=) c.545G= (p.Arg182=) c.422G= (p.Arg141=) n.681G= c.*99G= (n.*99G=) | |
| 3 | g.10149868G>T | CA351756317 | VHL | c.*222G>T (n.*222G>T) c.681G>T (n.681G>T) c.656G>T (p.Arg219Met) c.545G>T (p.Arg182Met) c.422G>T (p.Arg141Met) n.681G>T c.*99G>T (n.*99G>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149869del | CA357093 | VHL | c.*223del (n.*223del) c.682del (n.682del) c.657del (p.Arg219SerfsTer20) c.546del (p.Arg182SerfsTer20) c.423del (p.Arg141SerfsTer20) n.682del c.*100del (n.*100del) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.10149869G>A | CA432423578 | VHL | c.*223G>A (n.*223G>A) c.682G>A (n.682G>A) c.657G>A (p.Arg219=) c.546G>A (p.Arg182=) c.423G>A (p.Arg141=) n.682G>A c.*100G>A (n.*100G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |