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.10146480_10149910del | CA2832426654 | VHL | c.*18-34_*264del c.600-3307_723del c.341-34_698del c.341-34_587del c.341-3307_464del n.477-34_723del c.*18-3307_*141del | |
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.10149859_10149864del | CA645529528 | VHL | c.*213_*218del (n.*213_*218del) c.672_677del (n.672_677del) c.647_652del (p.Asp216_Ile217del) c.536_541del (p.Asp179_Ile180del) c.413_418del (p.Asp138_Ile139del) n.672_677del c.*90_*95del (n.*90_*95del) | COSMIC |
3 | g.10149860_10149861del | CA645529529 | VHL | c.*214_*215del (n.*214_*215del) c.673_674del (n.673_674del) c.648_649del (p.Ile217ArgfsTer?) c.537_538del (p.Ile180ArgfsTer?) c.414_415del (p.Ile139ArgfsTer?) n.673_674del c.*91_*92del (n.*91_*92del) | COSMIC |
3 | g.10149860C>A | CA351756264 | VHL | c.*214C>A (n.*214C>A) c.673C>A (n.673C>A) c.648C>A (p.Asp216Glu) c.537C>A (p.Asp179Glu) c.414C>A (p.Asp138Glu) n.673C>A c.*91C>A (n.*91C>A) | dbSNP |
3 | g.10149860C>G | CA351756267 | VHL | c.*214C>G (n.*214C>G) c.673C>G (n.673C>G) c.648C>G (p.Asp216Glu) c.537C>G (p.Asp179Glu) c.414C>G (p.Asp138Glu) n.673C>G c.*91C>G (n.*91C>G) | dbSNP |
3 | g.10149860C>T | CA432423518 | VHL | c.*214C>T (n.*214C>T) c.673C>T (n.673C>T) c.648C>T (p.Asp216=) c.537C>T (p.Asp179=) c.414C>T (p.Asp138=) n.673C>T c.*91C>T (n.*91C>T) | ClinVar dbSNP |
3 | g.10149861A= | CA1345062538 | VHL | c.*215A= (n.*215A=) c.674A= (n.674A=) c.649A= (p.Ile217=) c.538A= (p.Ile180=) c.415A= (p.Ile139=) n.674A= c.*92A= (n.*92A=) | |
3 | g.10149861A>C | CA351756270 | VHL | c.*215A>C (n.*215A>C) c.674A>C (n.674A>C) c.649A>C (p.Ile217Leu) c.538A>C (p.Ile180Leu) c.415A>C (p.Ile139Leu) n.674A>C c.*92A>C (n.*92A>C) | ClinVar |
3 | g.10149861A>G | CA020469 | VHL | c.*215A>G (n.*215A>G) c.674A>G (n.674A>G) c.649A>G (p.Ile217Val) c.538A>G (p.Ile180Val) c.415A>G (p.Ile139Val) n.674A>G c.*92A>G (n.*92A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10149861A>T | CA351756275 | VHL | c.*215A>T (n.*215A>T) c.674A>T (n.674A>T) c.649A>T (p.Ile217Phe) c.538A>T (p.Ile180Phe) c.415A>T (p.Ile139Phe) n.674A>T c.*92A>T (n.*92A>T) | dbSNP |
3 | g.10149862T>A | CA351756277 | VHL | c.*216T>A (n.*216T>A) c.675T>A (n.675T>A) c.650T>A (p.Ile217Asn) c.539T>A (p.Ile180Asn) c.416T>A (p.Ile139Asn) n.675T>A c.*93T>A (n.*93T>A) | dbSNP COSMIC |
3 | g.10149862T>C | CA351756280 | VHL | c.*216T>C (n.*216T>C) c.675T>C (n.675T>C) c.650T>C (p.Ile217Thr) c.539T>C (p.Ile180Thr) c.416T>C (p.Ile139Thr) n.675T>C c.*93T>C (n.*93T>C) | |
3 | g.10149862T>G | CA351756282 | VHL | c.*216T>G (n.*216T>G) c.675T>G (n.675T>G) c.650T>G (p.Ile217Ser) c.539T>G (p.Ile180Ser) c.416T>G (p.Ile139Ser) n.675T>G c.*93T>G (n.*93T>G) | ClinVar dbSNP |
3 | g.10149862T= | CA1345062543 | VHL | c.*216T= (n.*216T=) c.675T= (n.675T=) c.650T= (p.Ile217=) c.539T= (p.Ile180=) c.416T= (p.Ile139=) n.675T= c.*93T= (n.*93T=) | |
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.10149862_10149863insG | CA645529531 | VHL | c.*216_*217insG (n.*216_*217insG) c.675_676insG (n.675_676insG) c.650_651insG (p.Ile217MetfsTer?) c.539_540insG (p.Ile180MetfsTer?) c.416_417insG (p.Ile139MetfsTer?) n.675_676insG c.*93_*94insG (n.*93_*94insG) | COSMIC |
3 | g.10149863del | CA432423541 | VHL | c.*217del (n.*217del) c.676del (n.676del) c.651del (p.Ile217MetfsTer22) c.540del (p.Ile180MetfsTer22) c.417del (p.Ile139MetfsTer22) n.676del c.*94del (n.*94del) | COSMIC |
3 | g.10149863C>A | CA432423535 | VHL | c.*217C>A (n.*217C>A) c.676C>A (n.676C>A) c.651C>A (p.Ile217=) c.540C>A (p.Ile180=) c.417C>A (p.Ile139=) n.676C>A c.*94C>A (n.*94C>A) | |
3 | g.10149863C= | CA1345062548 | VHL | c.*217C= (n.*217C=) c.676C= (n.676C=) c.651C= (p.Ile217=) c.540C= (p.Ile180=) c.417C= (p.Ile139=) n.676C= c.*94C= (n.*94C=) | |
3 | g.10149863C>G | CA351756286 | VHL | c.*217C>G (n.*217C>G) c.676C>G (n.676C>G) c.651C>G (p.Ile217Met) c.540C>G (p.Ile180Met) c.417C>G (p.Ile139Met) n.676C>G c.*94C>G (n.*94C>G) | ClinVar dbSNP gnomAD v4 |
3 | g.10149863C>T | CA041478 | VHL | c.*217C>T (n.*217C>T) c.676C>T (n.676C>T) c.651C>T (p.Ile217=) c.540C>T (p.Ile180=) c.417C>T (p.Ile139=) n.676C>T c.*94C>T (n.*94C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
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.10149864del | CA432423544 | VHL | c.*218del (n.*218del) c.677del (n.677del) c.652del (p.Val218SerfsTer21) c.541del (p.Val181SerfsTer21) c.418del (p.Val140SerfsTer21) n.677del c.*95del (n.*95del) | COSMIC |
3 | g.10149864G>A | CA10582117 | VHL | c.*218G>A (n.*218G>A) c.677G>A (n.677G>A) c.652G>A (p.Val218Ile) c.541G>A (p.Val181Ile) c.418G>A (p.Val140Ile) n.677G>A c.*95G>A (n.*95G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10149864G>C | CA351756295 | VHL | c.*218G>C (n.*218G>C) c.677G>C (n.677G>C) c.652G>C (p.Val218Leu) c.541G>C (p.Val181Leu) c.418G>C (p.Val140Leu) n.677G>C c.*95G>C (n.*95G>C) | ClinVar dbSNP |
3 | g.10149864G= | CA1345062570 | VHL | c.*218G= (n.*218G=) c.677G= (n.677G=) c.652G= (p.Val218=) c.541G= (p.Val181=) c.418G= (p.Val140=) n.677G= c.*95G= (n.*95G=) | |
3 | g.10149864G>T | CA351756298 | VHL | c.*218G>T (n.*218G>T) c.677G>T (n.677G>T) c.652G>T (p.Val218Phe) c.541G>T (p.Val181Phe) c.418G>T (p.Val140Phe) n.677G>T c.*95G>T (n.*95G>T) | |
3 | g.10149864dup | CA432423549 | VHL | c.*218dup (n.*218dup) c.677dup (n.677dup) c.652dup (p.Val218GlyfsTer?) c.541dup (p.Val181GlyfsTer?) c.418dup (p.Val140GlyfsTer?) n.677dup c.*95dup (n.*95dup) | |
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) | ClinVar 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 |
3 | g.10149869G>C | CA351756323 | VHL | c.*223G>C (n.*223G>C) c.682G>C (n.682G>C) c.657G>C (p.Arg219Ser) c.546G>C (p.Arg182Ser) c.423G>C (p.Arg141Ser) n.682G>C c.*100G>C (n.*100G>C) | dbSNP |
3 | g.10149869G= | CA1345062600 | VHL | c.*223G= (n.*223G=) c.682G= (n.682G=) c.657G= (p.Arg219=) c.546G= (p.Arg182=) c.423G= (p.Arg141=) n.682G= c.*100G= (n.*100G=) | |
3 | g.10149869G>T | CA351756325 | VHL | c.*223G>T (n.*223G>T) c.682G>T (n.682G>T) c.657G>T (p.Arg219Ser) c.546G>T (p.Arg182Ser) c.423G>T (p.Arg141Ser) n.682G>T c.*100G>T (n.*100G>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.10149869_10149870delinsGT | CA1345062602 | VHL | c.*223_*224delinsGT (n.*223_*224delinsGT) c.682_683delinsGT (n.682_683delinsGT) c.657_658delinsGT (p.Arg219=) c.546_547delinsGT (p.Arg182=) c.423_424delinsGT (p.Arg141=) n.682_683delinsGT c.*100_*101delinsGT (n.*100_*101delinsGT) | |
3 | g.10149870del | CA432423593 | VHL | c.*224del (n.*224del) c.683del (n.683del) c.658del (p.Ser220ArgfsTer19) c.547del (p.Ser183ArgfsTer19) c.424del (p.Ser142ArgfsTer19) n.683del c.*101del (n.*101del) | ClinVar dbSNP COSMIC |
3 | g.10149870T>A | CA351756328 | VHL | c.*224T>A (n.*224T>A) c.683T>A (n.683T>A) c.658T>A (p.Ser220Thr) c.547T>A (p.Ser183Thr) c.424T>A (p.Ser142Thr) n.683T>A c.*101T>A (n.*101T>A) | dbSNP |
3 | g.10149870T>C | CA351756330 | VHL | c.*224T>C (n.*224T>C) c.683T>C (n.683T>C) c.658T>C (p.Ser220Pro) c.547T>C (p.Ser183Pro) c.424T>C (p.Ser142Pro) n.683T>C c.*101T>C (n.*101T>C) | dbSNP |
3 | g.10149870T>G | CA351756332 | VHL | c.*224T>G (n.*224T>G) c.683T>G (n.683T>G) c.658T>G (p.Ser220Ala) c.547T>G (p.Ser183Ala) c.424T>G (p.Ser142Ala) n.683T>G c.*101T>G (n.*101T>G) | dbSNP |
3 | g.10149870dup | CA432423590 | VHL | c.*224dup (n.*224dup) c.683dup (n.683dup) c.658dup (p.Ser220PhefsTer?) c.547dup (p.Ser183PhefsTer?) c.424dup (p.Ser142PhefsTer?) n.683dup c.*101dup (n.*101dup) | COSMIC |
3 | g.10149871del | CA658795184 | VHL | c.*225del (n.*225del) c.684del (n.684del) c.659del (p.Ser220CysfsTer19) c.548del (p.Ser183CysfsTer19) c.425del (p.Ser142CysfsTer19) n.684del c.*102del (n.*102del) | |
3 | g.10149871C>A | CA020473 | VHL | c.*225C>A (n.*225C>A) c.684C>A (n.684C>A) c.659C>A (p.Ser220Ter) c.548C>A (p.Ser183Ter) c.425C>A (p.Ser142Ter) n.684C>A c.*102C>A (n.*102C>A) | ClinVar dbSNP COSMIC |
3 | g.10149871C= | CA1345062607 | VHL | c.*225C= (n.*225C=) c.684C= (n.684C=) c.659C= (p.Ser220=) c.548C= (p.Ser183=) c.425C= (p.Ser142=) n.684C= c.*102C= (n.*102C=) | |
3 | g.10149871C>G | CA277912 | VHL | c.*225C>G (n.*225C>G) c.684C>G (n.684C>G) c.659C>G (p.Ser220Trp) c.548C>G (p.Ser183Trp) c.425C>G (p.Ser142Trp) n.684C>G c.*102C>G (n.*102C>G) | ClinVar dbSNP |
3 | g.10149871C>T | CA041537 | VHL | c.*225C>T (n.*225C>T) c.684C>T (n.684C>T) c.659C>T (p.Ser220Leu) c.548C>T (p.Ser183Leu) c.425C>T (p.Ser142Leu) n.684C>T c.*102C>T (n.*102C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10149871_10149878del | CA645529538 | VHL | c.*225_*232del (n.*225_*232del) c.684_691del (n.684_691del) c.659_666del (p.Ser220Ter) c.548_555del (p.Ser183Ter) c.425_432del (p.Ser142Ter) n.684_691del c.*102_*109del (n.*102_*109del) | COSMIC |
3 | g.10149873_10149879del | CA645529537 | VHL | c.*227_*233del (n.*227_*233del) c.686_692del (n.686_692del) c.661_667del (p.Leu221LysfsTer16) c.550_556del (p.Leu184LysfsTer16) c.427_433del (p.Leu143LysfsTer16) n.686_692del c.*104_*110del (n.*104_*110del) | COSMIC |
3 | g.10149872G>A | CA020477 | VHL | c.*226G>A (n.*226G>A) c.685G>A (n.685G>A) c.660G>A (p.Ser220=) c.549G>A (p.Ser183=) c.426G>A (p.Ser142=) n.685G>A c.*103G>A (n.*103G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.10149872G>C | CA432423601 | VHL | c.*226G>C (n.*226G>C) c.685G>C (n.685G>C) c.660G>C (p.Ser220=) c.549G>C (p.Ser183=) c.426G>C (p.Ser142=) n.685G>C c.*103G>C (n.*103G>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10149872G= | CA1345062615 | VHL | c.*226G= (n.*226G=) c.685G= (n.685G=) c.660G= (p.Ser220=) c.549G= (p.Ser183=) c.426G= (p.Ser142=) n.685G= c.*103G= (n.*103G=) | |
3 | g.10149872G>T | CA348201 | VHL | c.*226G>T (n.*226G>T) c.685G>T (n.685G>T) c.660G>T (p.Ser220=) c.549G>T (p.Ser183=) c.426G>T (p.Ser142=) n.685G>T c.*103G>T (n.*103G>T) | ClinVar dbSNP gnomAD v4 |
3 | g.10149873_10149882del | CA645529539 | VHL | c.*227_*236del (n.*227_*236del) c.686_695del (n.686_695del) c.661_670del (p.Leu221IlefsTer15) c.550_559del (p.Leu184IlefsTer15) c.427_436del (p.Leu143IlefsTer15) n.686_695del c.*104_*113del (n.*104_*113del) | COSMIC |
3 | g.10149873C>A | CA351756344 | VHL | c.*227C>A (n.*227C>A) c.686C>A (n.686C>A) c.661C>A (p.Leu221Ile) c.550C>A (p.Leu184Ile) c.427C>A (p.Leu143Ile) n.686C>A c.*104C>A (n.*104C>A) | dbSNP |
3 | g.10149873C= | CA1345062618 | VHL | c.*227C= (n.*227C=) c.686C= (n.686C=) c.661C= (p.Leu221=) c.550C= (p.Leu184=) c.427C= (p.Leu143=) n.686C= c.*104C= (n.*104C=) | |
3 | g.10149873C>G | CA351756347 | VHL | c.*227C>G (n.*227C>G) c.686C>G (n.686C>G) c.661C>G (p.Leu221Val) c.550C>G (p.Leu184Val) c.427C>G (p.Leu143Val) n.686C>G c.*104C>G (n.*104C>G) | ClinVar dbSNP |
3 | g.10149873C>T | CA351756349 | VHL | c.*227C>T (n.*227C>T) c.686C>T (n.686C>T) c.661C>T (p.Leu221Phe) c.550C>T (p.Leu184Phe) c.427C>T (p.Leu143Phe) n.686C>T c.*104C>T (n.*104C>T) | |
3 | g.10149875_10149876del | CA645529540 | VHL | c.*229_*230del (n.*229_*230del) c.688_689del (n.688_689del) c.663_664del (p.Tyr222ArgfsTer?) c.552_553del (p.Tyr185ArgfsTer?) c.429_430del (p.Tyr144ArgfsTer?) n.688_689del c.*106_*107del (n.*106_*107del) | COSMIC |
3 | g.10149874T>A | CA351756352 | VHL | c.*228T>A (n.*228T>A) c.687T>A (n.687T>A) c.662T>A (p.Leu221His) c.551T>A (p.Leu184His) c.428T>A (p.Leu143His) n.687T>A c.*105T>A (n.*105T>A) | dbSNP COSMIC |
3 | g.10149874T>C | CA16617792 | VHL | c.*228T>C (n.*228T>C) c.687T>C (n.687T>C) c.662T>C (p.Leu221Pro) c.551T>C (p.Leu184Pro) c.428T>C (p.Leu143Pro) n.687T>C c.*105T>C (n.*105T>C) | ClinVar dbSNP COSMIC |
3 | g.10149874T>G | CA351756355 | VHL | c.*228T>G (n.*228T>G) c.687T>G (n.687T>G) c.662T>G (p.Leu221Arg) c.551T>G (p.Leu184Arg) c.428T>G (p.Leu143Arg) n.687T>G c.*105T>G (n.*105T>G) | dbSNP COSMIC |
3 | g.10149874T= | CA1345062620 | VHL | c.*228T= (n.*228T=) c.687T= (n.687T=) c.662T= (p.Leu221=) c.551T= (p.Leu184=) c.428T= (p.Leu143=) n.687T= c.*105T= (n.*105T=) | |
3 | g.10149877_10149886del | CA645529541 | VHL | c.*231_*240del (n.*231_*240del) c.690_699del (n.690_699del) c.665_674del (p.Tyr222TrpfsTer14) c.554_563del (p.Tyr185TrpfsTer14) c.431_440del (p.Tyr144TrpfsTer14) n.690_699del c.*108_*117del (n.*108_*117del) | COSMIC |
3 | g.10149875C>A | CA432423612 | VHL | c.*229C>A (n.*229C>A) c.688C>A (n.688C>A) c.663C>A (p.Leu221=) c.552C>A (p.Leu184=) c.429C>A (p.Leu143=) n.688C>A c.*106C>A (n.*106C>A) | dbSNP |
3 | g.10149875C= | CA1345062625 | VHL | c.*229C= (n.*229C=) c.688C= (n.688C=) c.663C= (p.Leu221=) c.552C= (p.Leu184=) c.429C= (p.Leu143=) n.688C= c.*106C= (n.*106C=) | |
3 | g.10149875C>G | CA70052427 | VHL | c.*229C>G (n.*229C>G) c.688C>G (n.688C>G) c.663C>G (p.Leu221=) c.552C>G (p.Leu184=) c.429C>G (p.Leu143=) n.688C>G c.*106C>G (n.*106C>G) | ClinVar dbSNP gnomAD v4 |
3 | g.10149875C>T | CA041571 | VHL | c.*229C>T (n.*229C>T) c.688C>T (n.688C>T) c.663C>T (p.Leu221=) c.552C>T (p.Leu184=) c.429C>T (p.Leu143=) n.688C>T c.*106C>T (n.*106C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10149876del | CA432423620 | VHL | c.*230del (n.*230del) c.689del (n.689del) c.664del (p.Tyr222ThrfsTer17) c.553del (p.Tyr185ThrfsTer17) c.430del (p.Tyr144ThrfsTer17) n.689del c.*107del (n.*107del) | COSMIC |
3 | g.10149876T>A | CA041587 | VHL | c.*230T>A (n.*230T>A) c.689T>A (n.689T>A) c.664T>A (p.Tyr222Asn) c.553T>A (p.Tyr185Asn) c.430T>A (p.Tyr144Asn) n.689T>A c.*107T>A (n.*107T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10149876T>C | CA351756363 | VHL | c.*230T>C (n.*230T>C) c.689T>C (n.689T>C) c.664T>C (p.Tyr222His) c.553T>C (p.Tyr185His) c.430T>C (p.Tyr144His) n.689T>C c.*107T>C (n.*107T>C) | ClinVar dbSNP |
3 | g.10149876T>G | CA351756365 | VHL | c.*230T>G (n.*230T>G) c.689T>G (n.689T>G) c.664T>G (p.Tyr222Asp) c.553T>G (p.Tyr185Asp) c.430T>G (p.Tyr144Asp) n.689T>G c.*107T>G (n.*107T>G) | |
3 | g.10149876T= | CA1345062628 | VHL | c.*230T= (n.*230T=) c.689T= (n.689T=) c.664T= (p.Tyr222=) c.553T= (p.Tyr185=) c.430T= (p.Tyr144=) n.689T= c.*107T= (n.*107T=) | |
3 | g.10149876_10149877insG | CA645529543 | VHL | c.*230_*231insG (n.*230_*231insG) c.689_690insG (n.689_690insG) c.664_665insG (p.Tyr222Ter) c.553_554insG (p.Tyr185Ter) c.430_431insG (p.Tyr144Ter) n.689_690insG c.*107_*108insG (n.*107_*108insG) | COSMIC |
3 | g.10149877del | CA432423624 | VHL | c.*231del (n.*231del) c.690del (n.690del) c.665del (p.Tyr222SerfsTer17) c.554del (p.Tyr185SerfsTer17) c.431del (p.Tyr144SerfsTer17) n.690del c.*108del (n.*108del) | COSMIC |
3 | g.10149877A= | CA1345062634 | VHL | c.*231A= (n.*231A=) c.690A= (n.690A=) c.665A= (p.Tyr222=) c.554A= (p.Tyr185=) c.431A= (p.Tyr144=) n.690A= c.*108A= (n.*108A=) | |
3 | g.10149877A>C | CA351756368 | VHL | c.*231A>C (n.*231A>C) c.690A>C (n.690A>C) c.665A>C (p.Tyr222Ser) c.554A>C (p.Tyr185Ser) c.431A>C (p.Tyr144Ser) n.690A>C c.*108A>C (n.*108A>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10149877A>G | CA041601 | VHL | c.*231A>G (n.*231A>G) c.690A>G (n.690A>G) c.665A>G (p.Tyr222Cys) c.554A>G (p.Tyr185Cys) c.431A>G (p.Tyr144Cys) n.690A>G c.*108A>G (n.*108A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10149877A>T | CA351756373 | VHL | c.*231A>T (n.*231A>T) c.690A>T (n.690A>T) c.665A>T (p.Tyr222Phe) c.554A>T (p.Tyr185Phe) c.431A>T (p.Tyr144Phe) n.690A>T c.*108A>T (n.*108A>T) | ClinVar dbSNP COSMIC |
3 | g.10149878_10149880del | CA2695197743 | VHL | c.*232_*234del (n.*232_*234del) c.691_693del (n.691_693del) c.666_668del (p.Tyr222Ter) c.555_557del (p.Tyr185Ter) c.432_434del (p.Tyr144Ter) n.691_693del c.*109_*111del (n.*109_*111del) | ClinVar |
3 | g.10149877_10149895del | CA645529542 | VHL | c.*231_*249del (n.*231_*249del) c.690_708del (n.690_708del) c.665_683del (p.Tyr222SerfsTer11) c.554_572del (p.Tyr185SerfsTer11) c.431_449del (p.Tyr144SerfsTer11) n.690_708del c.*108_*126del (n.*108_*126del) | COSMIC |
3 | g.10149877_10149878insG | CA432423630 | VHL | c.*231_*232insG (n.*231_*232insG) c.690_691insG (n.690_691insG) c.665_666insG (p.Tyr222Ter) c.554_555insG (p.Tyr185Ter) c.431_432insG (p.Tyr144Ter) n.690_691insG c.*108_*109insG (n.*108_*109insG) | |
3 | g.10149878del | CA432423635 | VHL | c.*232del (n.*232del) c.691del (n.691del) c.666del (p.Tyr222Ter) c.555del (p.Tyr185Ter) c.432del (p.Tyr144Ter) n.691del c.*109del (n.*109del) | COSMIC |
3 | g.10149878C>A | CA351756378 | VHL | c.*232C>A (n.*232C>A) c.691C>A (n.691C>A) c.666C>A (p.Tyr222Ter) c.555C>A (p.Tyr185Ter) c.432C>A (p.Tyr144Ter) n.691C>A c.*109C>A (n.*109C>A) | ClinVar dbSNP COSMIC |
3 | g.10149878C= | CA1345062642 | VHL | c.*232C= (n.*232C=) c.691C= (n.691C=) c.666C= (p.Tyr222=) c.555C= (p.Tyr185=) c.432C= (p.Tyr144=) n.691C= c.*109C= (n.*109C=) | |
3 | g.10149878C>G | CA357075 | VHL | c.*232C>G (n.*232C>G) c.691C>G (n.691C>G) c.666C>G (p.Tyr222Ter) c.555C>G (p.Tyr185Ter) c.432C>G (p.Tyr144Ter) n.691C>G c.*109C>G (n.*109C>G) | ClinVar dbSNP COSMIC |
3 | g.10149878C>T | CA349343 | VHL | c.*232C>T (n.*232C>T) c.691C>T (n.691C>T) c.666C>T (p.Tyr222=) c.555C>T (p.Tyr185=) c.432C>T (p.Tyr144=) n.691C>T c.*109C>T (n.*109C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.10149878_10149881delinsCGAA | CA1345062645 | VHL | c.*232_*235delinsCGAA (n.*232_*235delinsCGAA) c.691_694delinsCGAA (n.691_694delinsCGAA) c.666_669delinsCGAA (p.Tyr222=) c.555_558delinsCGAA (p.Tyr185=) c.432_435delinsCGAA (p.Tyr144=) n.691_694delinsCGAA c.*109_*112delinsCGAA (n.*109_*112delinsCGAA) | |
3 | g.10149878_10149882delinsAT | CA645529544 | VHL | c.*232_*236delinsAT (n.*232_*236delinsAT) c.691_695delinsAT (n.691_695delinsAT) c.666_670delinsAT (p.Tyr222Ter) c.555_559delinsAT (p.Tyr185Ter) c.432_436delinsAT (p.Tyr144Ter) n.691_695delinsAT c.*109_*113delinsAT (n.*109_*113delinsAT) | COSMIC |
3 | g.10149879_10149885del | CA645529545 | VHL | c.*233_*239del (n.*233_*239del) c.692_698del (n.692_698del) c.667_673del (p.Glu223TrpfsTer14) c.556_562del (p.Glu186TrpfsTer14) c.433_439del (p.Glu145TrpfsTer14) n.692_698del c.*110_*116del (n.*110_*116del) | COSMIC |
3 | g.10149879G>A | CA020480 | VHL | c.*233G>A (n.*233G>A) c.692G>A (n.692G>A) c.667G>A (p.Glu223Lys) c.556G>A (p.Glu186Lys) c.433G>A (p.Glu145Lys) n.692G>A c.*110G>A (n.*110G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10149879G>C | CA351756383 | VHL | c.*233G>C (n.*233G>C) c.692G>C (n.692G>C) c.667G>C (p.Glu223Gln) c.556G>C (p.Glu186Gln) c.433G>C (p.Glu145Gln) n.692G>C c.*110G>C (n.*110G>C) | ClinVar dbSNP gnomAD v4 |
3 | g.10149879G= | CA1345062653 | VHL | c.*233G= (n.*233G=) c.692G= (n.692G=) c.667G= (p.Glu223=) c.556G= (p.Glu186=) c.433G= (p.Glu145=) n.692G= c.*110G= (n.*110G=) | |
3 | g.10149879G>T | CA16604432 | VHL | c.*233G>T (n.*233G>T) c.692G>T (n.692G>T) c.667G>T (p.Glu223Ter) c.556G>T (p.Glu186Ter) c.433G>T (p.Glu145Ter) n.692G>T c.*110G>T (n.*110G>T) | ClinVar dbSNP COSMIC |
3 | g.10149881_10149883del | CA658795181 | VHL | c.*235_*237del (n.*235_*237del) c.694_696del (n.694_696del) c.669_671del (p.Glu223del) c.558_560del (p.Glu186del) c.435_437del (p.Glu145del) n.694_696del c.*112_*114del (n.*112_*114del) | ClinVar dbSNP |
3 | g.10149884_10149892del | CA645529546 | VHL | c.*238_*246del (n.*238_*246del) c.697_705del (n.697_705del) c.672_680del (p.Leu225_Asp227del) c.561_569del (p.Leu188_Asp190del) c.438_446del (p.Leu147_Asp149del) n.697_705del c.*115_*123del (n.*115_*123del) | COSMIC |
3 | g.10149880A>C | CA351756385 | VHL | c.*234A>C (n.*234A>C) c.693A>C (n.693A>C) c.668A>C (p.Glu223Ala) c.557A>C (p.Glu186Ala) c.434A>C (p.Glu145Ala) n.693A>C c.*111A>C (n.*111A>C) | |
3 | g.10149880A>G | CA351756386 | VHL | c.*234A>G (n.*234A>G) c.693A>G (n.693A>G) c.668A>G (p.Glu223Gly) c.557A>G (p.Glu186Gly) c.434A>G (p.Glu145Gly) n.693A>G c.*111A>G (n.*111A>G) | |
3 | g.10149880A>T | CA351756387 | VHL | c.*234A>T (n.*234A>T) c.693A>T (n.693A>T) c.668A>T (p.Glu223Val) c.557A>T (p.Glu186Val) c.434A>T (p.Glu145Val) n.693A>T c.*111A>T (n.*111A>T) | |
3 | g.10149881del | CA432423646 | VHL | c.*235del (n.*235del) c.694del (n.694del) c.669del (p.Asp224IlefsTer15) c.558del (p.Asp187IlefsTer15) c.435del (p.Asp146IlefsTer15) n.694del c.*112del (n.*112del) | COSMIC |
3 | g.10149880_10149884del | CA645529547 | VHL | c.*234_*238del (n.*234_*238del) c.693_697del (n.693_697del) c.668_672del (p.Glu223AlafsTer?) c.557_561del (p.Glu186AlafsTer?) c.434_438del (p.Glu145AlafsTer?) n.693_697del c.*111_*115del (n.*111_*115del) | COSMIC |
3 | g.10149881A= | CA1345062660 | VHL | c.*235A= (n.*235A=) c.694A= (n.694A=) c.669A= (p.Glu223=) c.558A= (p.Glu186=) c.435A= (p.Glu145=) n.694A= c.*112A= (n.*112A=) | |
3 | g.10149881A>C | CA020484 | VHL | c.*235A>C (n.*235A>C) c.694A>C (n.694A>C) c.669A>C (p.Glu223Asp) c.558A>C (p.Glu186Asp) c.435A>C (p.Glu145Asp) n.694A>C c.*112A>C (n.*112A>C) | ClinVar dbSNP gnomAD v4 |
3 | g.10149881A>G | CA432423649 | VHL | c.*235A>G (n.*235A>G) c.694A>G (n.694A>G) c.669A>G (p.Glu223=) c.558A>G (p.Glu186=) c.435A>G (p.Glu145=) n.694A>G c.*112A>G (n.*112A>G) | |
3 | g.10149881A>T | CA351756388 | VHL | c.*235A>T (n.*235A>T) c.694A>T (n.694A>T) c.669A>T (p.Glu223Asp) c.558A>T (p.Glu186Asp) c.435A>T (p.Glu145Asp) n.694A>T c.*112A>T (n.*112A>T) | dbSNP |
3 | g.10149882_10149883del | CA645529548 | VHL | c.*236_*237del (n.*236_*237del) c.695_696del (n.695_696del) c.670_671del (p.Asp224SerfsTer?) c.559_560del (p.Asp187SerfsTer?) c.436_437del (p.Asp146SerfsTer?) n.695_696del c.*113_*114del (n.*113_*114del) | COSMIC |
3 | g.10149881_10149882insC | CA645529550 | VHL | c.*235_*236insC (n.*235_*236insC) c.694_695insC (n.694_695insC) c.669_670insC (p.Asp224ArgfsTer?) c.558_559insC (p.Asp187ArgfsTer?) c.435_436insC (p.Asp146ArgfsTer?) n.694_695insC c.*112_*113insC (n.*112_*113insC) | COSMIC |
3 | g.10149882del | CA432423654 | VHL | c.*236del (n.*236del) c.695del (n.695del) c.670del (p.Asp224IlefsTer15) c.559del (p.Asp187IlefsTer15) c.436del (p.Asp146IlefsTer15) n.695del c.*113del (n.*113del) | COSMIC |
3 | g.10149882G>A | CA351756389 | VHL | c.*236G>A (n.*236G>A) c.695G>A (n.695G>A) c.670G>A (p.Asp224Asn) c.559G>A (p.Asp187Asn) c.436G>A (p.Asp146Asn) n.695G>A c.*113G>A (n.*113G>A) | dbSNP COSMIC |
3 | g.10149882G>C | CA351756390 | VHL | c.*236G>C (n.*236G>C) c.695G>C (n.695G>C) c.670G>C (p.Asp224His) c.559G>C (p.Asp187His) c.436G>C (p.Asp146His) n.695G>C c.*113G>C (n.*113G>C) | dbSNP |
3 | g.10149882G>T | CA351756391 | VHL | c.*236G>T (n.*236G>T) c.695G>T (n.695G>T) c.670G>T (p.Asp224Tyr) c.559G>T (p.Asp187Tyr) c.436G>T (p.Asp146Tyr) n.695G>T c.*113G>T (n.*113G>T) | |
3 | g.10149883_10149903del | CA645529549 | VHL | c.*237_*257del (n.*237_*257del) c.696_716del (n.696_716del) c.671_691del (p.Asp224_Asn230del) c.560_580del (p.Asp187_Asn193del) c.437_457del (p.Asp146_Asn152del) n.696_716del c.*114_*134del (n.*114_*134del) | COSMIC |
3 | g.10149882_10149883insC | CA432423656 | VHL | c.*236_*237insC (n.*236_*237insC) c.695_696insC (n.695_696insC) c.670_671insC (p.Asp224AlafsTer?) c.559_560insC (p.Asp187AlafsTer?) c.436_437insC (p.Asp146AlafsTer?) n.695_696insC c.*113_*114insC (n.*113_*114insC) | |
3 | g.10149883del | CA645529551 | VHL | c.*237del (n.*237del) c.696del (n.696del) c.671del (p.Asp224ValfsTer15) c.560del (p.Asp187ValfsTer15) c.437del (p.Asp146ValfsTer15) n.696del c.*114del (n.*114del) | COSMIC |
3 | g.10149883A>C | CA351756392 | VHL | c.*237A>C (n.*237A>C) c.696A>C (n.696A>C) c.671A>C (p.Asp224Ala) c.560A>C (p.Asp187Ala) c.437A>C (p.Asp146Ala) n.696A>C c.*114A>C (n.*114A>C) | |
3 | g.10149883A>G | CA351756393 | VHL | c.*237A>G (n.*237A>G) c.696A>G (n.696A>G) c.671A>G (p.Asp224Gly) c.560A>G (p.Asp187Gly) c.437A>G (p.Asp146Gly) n.696A>G c.*114A>G (n.*114A>G) | |
3 | g.10149883A>T | CA351756394 | VHL | c.*237A>T (n.*237A>T) c.696A>T (n.696A>T) c.671A>T (p.Asp224Val) c.560A>T (p.Asp187Val) c.437A>T (p.Asp146Val) n.696A>T c.*114A>T (n.*114A>T) | dbSNP COSMIC |
3 | g.10149884del | CA432423666 | VHL | c.*238del (n.*238del) c.697del (n.697del) c.672del (p.Leu225TrpfsTer14) c.561del (p.Leu188TrpfsTer14) c.438del (p.Leu147TrpfsTer14) n.697del c.*115del (n.*115del) | COSMIC |
3 | g.10149884T>A | CA351756395 | VHL | c.*238T>A (n.*238T>A) c.697T>A (n.697T>A) c.672T>A (p.Asp224Glu) c.561T>A (p.Asp187Glu) c.438T>A (p.Asp146Glu) n.697T>A c.*115T>A (n.*115T>A) | dbSNP |
3 | g.10149884T>C | CA041631 | VHL | c.*238T>C (n.*238T>C) c.697T>C (n.697T>C) c.672T>C (p.Asp224=) c.561T>C (p.Asp187=) c.438T>C (p.Asp146=) n.697T>C c.*115T>C (n.*115T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10149884T>G | CA351756396 | VHL | c.*238T>G (n.*238T>G) c.697T>G (n.697T>G) c.672T>G (p.Asp224Glu) c.561T>G (p.Asp187Glu) c.438T>G (p.Asp146Glu) n.697T>G c.*115T>G (n.*115T>G) | dbSNP |
3 | g.10149884T= | CA1345062669 | VHL | c.*238T= (n.*238T=) c.697T= (n.697T=) c.672T= (p.Asp224=) c.561T= (p.Asp187=) c.438T= (p.Asp146=) n.697T= c.*115T= (n.*115T=) | |
3 | g.10149884_10149886del | CA645529554 | VHL | c.*238_*240del (n.*238_*240del) c.697_699del (n.697_699del) c.672_674del (p.Asp224_Leu225delinsGlu) c.561_563del (p.Asp187_Leu188delinsGlu) c.438_440del (p.Asp146_Leu147delinsGlu) n.697_699del c.*115_*117del (n.*115_*117del) | COSMIC |
3 | g.10149885_10149886del | CA645529553 | VHL | c.*239_*240del (n.*239_*240del) c.698_699del (n.698_699del) c.673_674del (p.Leu225GlyfsTer?) c.562_563del (p.Leu188GlyfsTer?) c.439_440del (p.Leu147GlyfsTer?) n.698_699del c.*116_*117del (n.*116_*117del) | COSMIC |
3 | g.10149884_10149887del | CA645529552 | VHL | c.*238_*241del (n.*238_*241del) c.697_700del (n.697_700del) c.672_675del (p.Asp224GlufsTer14) c.561_564del (p.Asp187GlufsTer14) c.438_441del (p.Asp146GlufsTer14) n.697_700del c.*115_*118del (n.*115_*118del) | COSMIC |
3 | g.10149884_10149890delinsG | CA645529555 | VHL | c.*238_*244delinsG (n.*238_*244delinsG) c.697_703delinsG (n.697_703delinsG) c.672_678delinsG (p.Asp224_Leu225del) c.561_567delinsG (p.Asp187_Leu188del) c.438_444delinsG (p.Asp146_Leu147del) n.697_703delinsG c.*115_*121delinsG (n.*115_*121delinsG) | COSMIC |
3 | g.10149885del | CA432423671 | VHL | c.*239del (n.*239del) c.698del (n.698del) c.673del (p.Leu225TrpfsTer14) c.562del (p.Leu188TrpfsTer14) c.439del (p.Leu147TrpfsTer14) n.698del c.*116del (n.*116del) | COSMIC |
3 | g.10149885C>A | CA351756397 | VHL | c.*239C>A (n.*239C>A) c.698C>A (n.698C>A) c.673C>A (p.Leu225Met) c.562C>A (p.Leu188Met) c.439C>A (p.Leu147Met) n.698C>A c.*116C>A (n.*116C>A) | dbSNP gnomAD v4 |
3 | g.10149885C= | CA1345062676 | VHL | c.*239C= (n.*239C=) c.698C= (n.698C=) c.673C= (p.Leu225=) c.562C= (p.Leu188=) c.439C= (p.Leu147=) n.698C= c.*116C= (n.*116C=) | |
3 | g.10149885C>G | CA020488 | VHL | c.*239C>G (n.*239C>G) c.698C>G (n.698C>G) c.673C>G (p.Leu225Val) c.562C>G (p.Leu188Val) c.439C>G (p.Leu147Val) n.698C>G c.*116C>G (n.*116C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10149885C>T | CA432423668 | VHL | c.*239C>T (n.*239C>T) c.698C>T (n.698C>T) c.673C>T (p.Leu225=) c.562C>T (p.Leu188=) c.439C>T (p.Leu147=) n.698C>T c.*116C>T (n.*116C>T) | ClinVar dbSNP |
3 | g.10149885_10149887del | CA2573320489 | VHL | c.*239_*241del (n.*239_*241del) c.698_700del (n.698_700del) c.673_675del (p.Leu225del) c.562_564del (p.Leu188del) c.439_441del (p.Leu147del) n.698_700del c.*116_*118del (n.*116_*118del) | |
3 | g.10149886del | CA432423679 | VHL | c.*240del (n.*240del) c.699del (n.699del) c.674del (p.Leu225ArgfsTer14) c.563del (p.Leu188ArgfsTer14) c.440del (p.Leu147ArgfsTer14) n.699del c.*117del (n.*117del) | COSMIC |
3 | g.10149886T>A | CA351756398 | VHL | c.*240T>A (n.*240T>A) c.699T>A (n.699T>A) c.674T>A (p.Leu225Gln) c.563T>A (p.Leu188Gln) c.440T>A (p.Leu147Gln) n.699T>A c.*117T>A (n.*117T>A) | ClinVar dbSNP COSMIC |
3 | g.10149886T>C | CA351756399 | VHL | c.*240T>C (n.*240T>C) c.699T>C (n.699T>C) c.674T>C (p.Leu225Pro) c.563T>C (p.Leu188Pro) c.440T>C (p.Leu147Pro) n.699T>C c.*117T>C (n.*117T>C) | ClinVar dbSNP COSMIC |
3 | g.10149886T>G | CA351756400 | VHL | c.*240T>G (n.*240T>G) c.699T>G (n.699T>G) c.674T>G (p.Leu225Arg) c.563T>G (p.Leu188Arg) c.440T>G (p.Leu147Arg) n.699T>G c.*117T>G (n.*117T>G) | ClinVar dbSNP COSMIC |
3 | g.10149886T= | CA1345062691 | VHL | c.*240T= (n.*240T=) c.699T= (n.699T=) c.674T= (p.Leu225=) c.563T= (p.Leu188=) c.440T= (p.Leu147=) n.699T= c.*117T= (n.*117T=) | |
3 | g.10149886dup | CA645529556 | VHL | c.*240dup (n.*240dup) c.699dup (n.699dup) c.674dup (p.Glu226GlyfsTer?) c.563dup (p.Glu189GlyfsTer?) c.440dup (p.Glu148GlyfsTer?) n.699dup c.*117dup (n.*117dup) | COSMIC |
3 | g.10149886_10149887delinsTG | CA1345062686 | VHL | c.*240_*241delinsTG (n.*240_*241delinsTG) c.699_700delinsTG (n.699_700delinsTG) c.674_675delinsTG (p.Leu225=) c.563_564delinsTG (p.Leu188=) c.440_441delinsTG (p.Leu147=) n.699_700delinsTG c.*117_*118delinsTG (n.*117_*118delinsTG) | |
3 | g.10149887G>A | CA432423681 | VHL | c.*241G>A (n.*241G>A) c.700G>A (n.700G>A) c.675G>A (p.Leu225=) c.564G>A (p.Leu188=) c.441G>A (p.Leu147=) n.700G>A c.*118G>A (n.*118G>A) | dbSNP |
3 | g.10149887G>C | CA432423683 | VHL | c.*241G>C (n.*241G>C) c.700G>C (n.700G>C) c.675G>C (p.Leu225=) c.564G>C (p.Leu188=) c.441G>C (p.Leu147=) n.700G>C c.*118G>C (n.*118G>C) | dbSNP |
3 | g.10149887G>T | CA432423685 | VHL | c.*241G>T (n.*241G>T) c.700G>T (n.700G>T) c.675G>T (p.Leu225=) c.564G>T (p.Leu188=) c.441G>T (p.Leu147=) n.700G>T c.*118G>T (n.*118G>T) | COSMIC |
3 | g.10149887_10149888del | CA645529558 | VHL | c.*241_*242del (n.*241_*242del) c.700_701del (n.700_701del) c.675_676del (p.Glu226ArgfsTer?) c.564_565del (p.Glu189ArgfsTer?) c.441_442del (p.Glu148ArgfsTer?) n.700_701del c.*118_*119del (n.*118_*119del) | COSMIC |
3 | g.10149887_10149888delinsTT | CA645529559 | VHL | c.*241_*242delinsTT (n.*241_*242delinsTT) c.700_701delinsTT (n.700_701delinsTT) c.675_676delinsTT (p.Leu226Ter) c.564_565delinsTT (p.Leu189Ter) c.441_442delinsTT (p.Leu148Ter) n.700_701delinsTT c.*118_*119delinsTT (n.*118_*119delinsTT) | COSMIC |
3 | g.10149887_10149888dup | CA645529557 | VHL | c.*241_*242dup (n.*241_*242dup) c.700_701dup (n.700_701dup) c.675_676dup (p.Glu226GlyfsTer14) c.564_565dup (p.Glu189GlyfsTer14) c.441_442dup (p.Glu148GlyfsTer14) n.700_701dup c.*118_*119dup (n.*118_*119dup) | COSMIC |
3 | g.10149888del | CA432423686 | VHL | c.*242del (n.*242del) c.701del (n.701del) c.676del (p.Glu226LysfsTer13) c.565del (p.Glu189LysfsTer13) c.442del (p.Glu148LysfsTer13) n.701del c.*119del (n.*119del) | ClinVar dbSNP COSMIC |
3 | g.10149888_10149891del | CA645529560 | VHL | c.*242_*245del (n.*242_*245del) c.701_704del (n.701_704del) c.676_679del (p.Glu226ThrfsTer12) c.565_568del (p.Glu189ThrfsTer12) c.442_445del (p.Glu148ThrfsTer12) n.701_704del c.*119_*122del (n.*119_*122del) | COSMIC |
3 | g.10149887_10149906dup | CA2586965684 | VHL | c.*241_*260dup (n.*241_*260dup) c.700_719dup (n.700_719dup) c.675_694dup (p.Gln232ArgfsTer14) c.564_583dup (p.Gln195ArgfsTer14) c.441_460dup (p.Gln154ArgfsTer14) n.700_719dup c.*118_*137dup (n.*118_*137dup) | |
3 | g.10149888_10149908dup | CA2586963895 | VHL | c.*242_*262dup (n.*242_*262dup) c.701_721dup (n.701_721dup) c.676_696dup (p.Gln232_Lys233insGluAspHisProAsnValGln) c.565_585dup (p.Gln195_Lys196insGluAspHisProAsnValGln) c.442_462dup (p.Gln154_Lys155insGluAspHisProAsnValGln) n.701_721dup c.*119_*139dup (n.*119_*139dup) | |
3 | g.10149887_10149888insT | CA432423689 | VHL | c.*241_*242insT (n.*241_*242insT) c.700_701insT (n.700_701insT) c.675_676insT (p.Glu226Ter) c.564_565insT (p.Glu189Ter) c.441_442insT (p.Glu148Ter) n.700_701insT c.*118_*119insT (n.*118_*119insT) | |
3 | g.10149888G>A | CA041671 | VHL | c.*242G>A (n.*242G>A) c.701G>A (n.701G>A) c.676G>A (p.Glu226Lys) c.565G>A (p.Glu189Lys) c.442G>A (p.Glu148Lys) n.701G>A c.*119G>A (n.*119G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10149888G>C | CA351756401 | VHL | c.*242G>C (n.*242G>C) c.701G>C (n.701G>C) c.676G>C (p.Glu226Gln) c.565G>C (p.Glu189Gln) c.442G>C (p.Glu148Gln) n.701G>C c.*119G>C (n.*119G>C) | dbSNP COSMIC |
3 | g.10149888G= | CA1345062705 | VHL | c.*242G= (n.*242G=) c.701G= (n.701G=) c.676G= (p.Glu226=) c.565G= (p.Glu189=) c.442G= (p.Glu148=) n.701G= c.*119G= (n.*119G=) | |
3 | g.10149888G>T | CA351756402 | VHL | c.*242G>T (n.*242G>T) c.701G>T (n.701G>T) c.676G>T (p.Glu226Ter) c.565G>T (p.Glu189Ter) c.442G>T (p.Glu148Ter) n.701G>T c.*119G>T (n.*119G>T) | dbSNP COSMIC |
3 | g.10149888_10149889delinsGA | CA1345062704 | VHL | c.*242_*243delinsGA (n.*242_*243delinsGA) c.701_702delinsGA (n.701_702delinsGA) c.676_677delinsGA (p.Glu226=) c.565_566delinsGA (p.Glu189=) c.442_443delinsGA (p.Glu148=) n.701_702delinsGA c.*119_*120delinsGA (n.*119_*120delinsGA) | |
3 | g.10149888_10149893del | CA2573320338 | VHL | c.*242_*247del (n.*242_*247del) c.701_706del (n.701_706del) c.676_681del (p.Glu226_Asp227del) c.565_570del (p.Glu189_Asp190del) c.442_447del (p.Glu148_Asp149del) n.701_706del c.*119_*124del (n.*119_*124del) | |
3 | g.10149889A>C | CA351756403 | VHL | c.*243A>C (n.*243A>C) c.702A>C (n.702A>C) c.677A>C (p.Glu226Ala) c.566A>C (p.Glu189Ala) c.443A>C (p.Glu148Ala) n.702A>C c.*120A>C (n.*120A>C) | |
3 | g.10149889A>G | CA351756404 | VHL | c.*243A>G (n.*243A>G) c.702A>G (n.702A>G) c.677A>G (p.Glu226Gly) c.566A>G (p.Glu189Gly) c.443A>G (p.Glu148Gly) n.702A>G c.*120A>G (n.*120A>G) | dbSNP |
3 | g.10149889A>T | CA351756405 | VHL | c.*243A>T (n.*243A>T) c.702A>T (n.702A>T) c.677A>T (p.Glu226Val) c.566A>T (p.Glu189Val) c.443A>T (p.Glu148Val) n.702A>T c.*120A>T (n.*120A>T) | dbSNP COSMIC |
3 | g.10149890del | CA70052523 | VHL | c.*244del (n.*244del) c.703del (n.703del) c.678del (p.Asp227ThrfsTer12) c.567del (p.Asp190ThrfsTer12) c.444del (p.Asp149ThrfsTer12) n.703del c.*121del (n.*121del) | dbSNP COSMIC |
3 | g.10149889_10149892del | CA645529561 | VHL | c.*243_*246del (n.*243_*246del) c.702_705del (n.702_705del) c.677_680del (p.Glu226AlafsTer12) c.566_569del (p.Glu189AlafsTer12) c.443_446del (p.Glu148AlafsTer12) n.702_705del c.*120_*123del (n.*120_*123del) | COSMIC |
3 | g.10149890A= | CA1345062710 | VHL | c.*244A= (n.*244A=) c.703A= (n.703A=) c.678A= (p.Glu226=) c.567A= (p.Glu189=) c.444A= (p.Glu148=) n.703A= c.*121A= (n.*121A=) | |
3 | g.10149890A>C | CA351756406 | VHL | c.*244A>C (n.*244A>C) c.703A>C (n.703A>C) c.678A>C (p.Glu226Asp) c.567A>C (p.Glu189Asp) c.444A>C (p.Glu148Asp) n.703A>C c.*121A>C (n.*121A>C) | |
3 | g.10149890A>G | CA432423701 | VHL | c.*244A>G (n.*244A>G) c.703A>G (n.703A>G) c.678A>G (p.Glu226=) c.567A>G (p.Glu189=) c.444A>G (p.Glu148=) n.703A>G c.*121A>G (n.*121A>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10149890A>T | CA351756407 | VHL | c.*244A>T (n.*244A>T) c.703A>T (n.703A>T) c.678A>T (p.Glu226Asp) c.567A>T (p.Glu189Asp) c.444A>T (p.Glu148Asp) n.703A>T c.*121A>T (n.*121A>T) | dbSNP |
3 | g.10149891del | CA432423704 | VHL | c.*245del (n.*245del) c.704del (n.704del) c.679del (p.Asp227ThrfsTer12) c.568del (p.Asp190ThrfsTer12) c.445del (p.Asp149ThrfsTer12) n.704del c.*122del (n.*122del) | COSMIC |
3 | g.10149891G>A | CA351756410 | VHL | c.*245G>A (n.*245G>A) c.704G>A (n.704G>A) c.679G>A (p.Asp227Asn) c.568G>A (p.Asp190Asn) c.445G>A (p.Asp149Asn) n.704G>A c.*122G>A (n.*122G>A) | dbSNP |
3 | g.10149891G>C | CA351756409 | VHL | c.*245G>C (n.*245G>C) c.704G>C (n.704G>C) c.679G>C (p.Asp227His) c.568G>C (p.Asp190His) c.445G>C (p.Asp149His) n.704G>C c.*122G>C (n.*122G>C) | dbSNP |
3 | g.10149891G>T | CA351756408 | VHL | c.*245G>T (n.*245G>T) c.704G>T (n.704G>T) c.679G>T (p.Asp227Tyr) c.568G>T (p.Asp190Tyr) c.445G>T (p.Asp149Tyr) n.704G>T c.*122G>T (n.*122G>T) | COSMIC |
3 | g.10149891dup | CA645529562 | VHL | c.*245dup (n.*245dup) c.704dup (n.704dup) c.679dup (p.Asp227GlyfsTer?) c.568dup (p.Asp190GlyfsTer?) c.445dup (p.Asp149GlyfsTer?) n.704dup c.*122dup (n.*122dup) | COSMIC |
3 | g.10149891_10149893dup | CA891843325 | VHL | c.*245_*247dup (n.*245_*247dup) c.704_706dup (n.704_706dup) c.679_681dup (p.Asp227_His228insAsp) c.568_570dup (p.Asp190_His191insAsp) c.445_447dup (p.Asp149_His150insAsp) n.704_706dup c.*122_*124dup (n.*122_*124dup) | ClinVar dbSNP |
3 | g.10149892A>C | CA351756411 | VHL | c.*246A>C (n.*246A>C) c.705A>C (n.705A>C) c.680A>C (p.Asp227Ala) c.569A>C (p.Asp190Ala) c.446A>C (p.Asp149Ala) n.705A>C c.*123A>C (n.*123A>C) | |
3 | g.10149892A>G | CA351756412 | VHL | c.*246A>G (n.*246A>G) c.705A>G (n.705A>G) c.680A>G (p.Asp227Gly) c.569A>G (p.Asp190Gly) c.446A>G (p.Asp149Gly) n.705A>G c.*123A>G (n.*123A>G) | ClinVar dbSNP |
3 | g.10149892A>T | CA351756413 | VHL | c.*246A>T (n.*246A>T) c.705A>T (n.705A>T) c.680A>T (p.Asp227Val) c.569A>T (p.Asp190Val) c.446A>T (p.Asp149Val) n.705A>T c.*123A>T (n.*123A>T) | |
3 | g.10149895_10149897del | CA2702130633 | VHL | c.*249_*251del (n.*249_*251del) c.708_710del (n.708_710del) c.683_685del (p.His228del) c.572_574del (p.His191del) c.449_451del (p.His150del) n.708_710del c.*126_*128del (n.*126_*128del) | dbSNP |
3 | g.10149892_10149893insG | CA432423709 | VHL | c.*246_*247insG (n.*246_*247insG) c.705_706insG (n.705_706insG) c.680_681insG (p.Asp227GlufsTer?) c.569_570insG (p.Asp190GlufsTer?) c.446_447insG (p.Asp149GlufsTer?) n.705_706insG c.*123_*124insG (n.*123_*124insG) | |
3 | g.10149893C>A | CA351756414 | VHL | c.*247C>A (n.*247C>A) c.706C>A (n.706C>A) c.681C>A (p.Asp227Glu) c.570C>A (p.Asp190Glu) c.447C>A (p.Asp149Glu) n.706C>A c.*124C>A (n.*124C>A) | dbSNP |
3 | g.10149893C>G | CA351756415 | VHL | c.*247C>G (n.*247C>G) c.706C>G (n.706C>G) c.681C>G (p.Asp227Glu) c.570C>G (p.Asp190Glu) c.447C>G (p.Asp149Glu) n.706C>G c.*124C>G (n.*124C>G) | dbSNP |
3 | g.10149893C>T | CA432423714 | VHL | c.*247C>T (n.*247C>T) c.706C>T (n.706C>T) c.681C>T (p.Asp227=) c.570C>T (p.Asp190=) c.447C>T (p.Asp149=) n.706C>T c.*124C>T (n.*124C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10149894del | CA658795182 | VHL | c.*248del (n.*248del) c.707del (n.707del) c.682del (p.His228ThrfsTer11) c.571del (p.His191ThrfsTer11) c.448del (p.His150ThrfsTer11) n.707del c.*125del (n.*125del) | |
3 | g.10149894_10149898del | CA645529563 | VHL | c.*248_*252del (n.*248_*252del) c.707_711del (n.707_711del) c.682_686del (p.His228LysfsTer?) c.571_575del (p.His191LysfsTer?) c.448_452del (p.His150LysfsTer?) n.707_711del c.*125_*129del (n.*125_*129del) | COSMIC |
3 | g.10149896_10149899del | CA645529564 | VHL | c.*250_*253del (n.*250_*253del) c.709_712del (n.709_712del) c.684_687del (p.His228GlnfsTer10) c.573_576del (p.His191GlnfsTer10) c.450_453del (p.His150GlnfsTer10) n.709_712del c.*127_*130del (n.*127_*130del) | COSMIC |
3 | g.10149894C>A | CA351756418 | VHL | c.*248C>A (n.*248C>A) c.707C>A (n.707C>A) c.682C>A (p.His228Asn) c.571C>A (p.His191Asn) c.448C>A (p.His150Asn) n.707C>A c.*125C>A (n.*125C>A) | dbSNP |
3 | g.10149894C= | CA1345062718 | VHL | c.*248C= (n.*248C=) c.707C= (n.707C=) c.682C= (p.His228=) c.571C= (p.His191=) c.448C= (p.His150=) n.707C= c.*125C= (n.*125C=) | |
3 | g.10149894C>G | CA020495 | VHL | c.*248C>G (n.*248C>G) c.707C>G (n.707C>G) c.682C>G (p.His228Asp) c.571C>G (p.His191Asp) c.448C>G (p.His150Asp) n.707C>G c.*125C>G (n.*125C>G) | ClinVar dbSNP gnomAD v4 |
3 | g.10149894C>T | CA351756416 | VHL | c.*248C>T (n.*248C>T) c.707C>T (n.707C>T) c.682C>T (p.His228Tyr) c.571C>T (p.His191Tyr) c.448C>T (p.His150Tyr) n.707C>T c.*125C>T (n.*125C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.10149895del | CA432423723 | VHL | c.*249del (n.*249del) c.708del (n.708del) c.683del (p.His228ProfsTer11) c.572del (p.His191ProfsTer11) c.449del (p.His150ProfsTer11) n.708del c.*126del (n.*126del) | COSMIC |
3 | g.10149895A= | CA1345062727 | VHL | c.*249A= (n.*249A=) c.708A= (n.708A=) c.683A= (p.His228=) c.572A= (p.His191=) c.449A= (p.His150=) n.708A= c.*126A= (n.*126A=) | |
3 | g.10149895A>C | CA020500 | VHL | c.*249A>C (n.*249A>C) c.708A>C (n.708A>C) c.683A>C (p.His228Pro) c.572A>C (p.His191Pro) c.449A>C (p.His150Pro) n.708A>C c.*126A>C (n.*126A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10149895A>G | CA041703 | VHL | c.*249A>G (n.*249A>G) c.708A>G (n.708A>G) c.683A>G (p.His228Arg) c.572A>G (p.His191Arg) c.449A>G (p.His150Arg) n.708A>G c.*126A>G (n.*126A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10149895A>T | CA351756425 | VHL | c.*249A>T (n.*249A>T) c.708A>T (n.708A>T) c.683A>T (p.His228Leu) c.572A>T (p.His191Leu) c.449A>T (p.His150Leu) n.708A>T c.*126A>T (n.*126A>T) | |
3 | g.10149895dup | CA2573106159 | VHL | c.*249dup (n.*249dup) c.708dup (n.708dup) c.683dup (p.His228GlnfsTer?) c.572dup (p.His191GlnfsTer?) c.449dup (p.His150GlnfsTer?) n.708dup c.*126dup (n.*126dup) | |
3 | g.10149896_10149900del | CA645529565 | VHL | c.*250_*254del (n.*250_*254del) c.709_713del (n.709_713del) c.684_688del (p.His228GlnfsTer?) c.573_577del (p.His191GlnfsTer?) c.450_454del (p.His150GlnfsTer?) n.709_713del c.*127_*131del (n.*127_*131del) | COSMIC |
3 | g.10149896C>A | CA351756428 | VHL | c.*250C>A (n.*250C>A) c.709C>A (n.709C>A) c.684C>A (p.His228Gln) c.573C>A (p.His191Gln) c.450C>A (p.His150Gln) n.709C>A c.*127C>A (n.*127C>A) | dbSNP |
3 | g.10149896C= | CA1345062735 | VHL | c.*250C= (n.*250C=) c.709C= (n.709C=) c.684C= (p.His228=) c.573C= (p.His191=) c.450C= (p.His150=) n.709C= c.*127C= (n.*127C=) | |
3 | g.10149896C>G | CA351756431 | VHL | c.*250C>G (n.*250C>G) c.709C>G (n.709C>G) c.684C>G (p.His228Gln) c.573C>G (p.His191Gln) c.450C>G (p.His150Gln) n.709C>G c.*127C>G (n.*127C>G) | dbSNP |
3 | g.10149896C>T | CA041716 | VHL | c.*250C>T (n.*250C>T) c.709C>T (n.709C>T) c.684C>T (p.His228=) c.573C>T (p.His191=) c.450C>T (p.His150=) n.709C>T c.*127C>T (n.*127C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10149898del | CA432423729 | VHL | c.*252del (n.*252del) c.711del (n.711del) c.686del (p.Pro229GlnfsTer10) c.575del (p.Pro192GlnfsTer10) c.452del (p.Pro151GlnfsTer10) n.711del c.*129del (n.*129del) | ClinVar dbSNP COSMIC |
3 | g.10149897C>A | CA351756433 | VHL | c.*251C>A (n.*251C>A) c.710C>A (n.710C>A) c.685C>A (p.Pro229Thr) c.574C>A (p.Pro192Thr) c.451C>A (p.Pro151Thr) n.710C>A c.*128C>A (n.*128C>A) | ClinVar dbSNP |
3 | g.10149897C= | CA1345062743 | VHL | c.*251C= (n.*251C=) c.710C= (n.710C=) c.685C= (p.Pro229=) c.574C= (p.Pro192=) c.451C= (p.Pro151=) n.710C= c.*128C= (n.*128C=) | |
3 | g.10149897C>G | CA351756437 | VHL | c.*251C>G (n.*251C>G) c.710C>G (n.710C>G) c.685C>G (p.Pro229Ala) c.574C>G (p.Pro192Ala) c.451C>G (p.Pro151Ala) n.710C>G c.*128C>G (n.*128C>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.10149897C>T | CA020501 | VHL | c.*251C>T (n.*251C>T) c.710C>T (n.710C>T) c.685C>T (p.Pro229Ser) c.574C>T (p.Pro192Ser) c.451C>T (p.Pro151Ser) n.710C>T c.*128C>T (n.*128C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.10149899_10149915del | CA645529567 | VHL | c.*253_*269del (n.*253_*269del) c.712_728del (n.712_728del) c.687_703del (p.Asn230GlyfsTer?) c.576_592del (p.Asn193GlyfsTer?) c.453_469del (p.Asn152GlyfsTer?) n.712_728del c.*130_*146del (n.*130_*146del) | COSMIC |
3 | g.10149897_10149918del | CA645529566 | VHL | c.*251_*272del (n.*251_*272del) c.710_731del (n.710_731del) c.685_706del (p.Pro229SerfsTer3) c.574_595del (p.Pro192SerfsTer3) c.451_472del (p.Pro151SerfsTer3) n.710_731del c.*128_*149del (n.*128_*149del) | COSMIC |
3 | g.10149898C>A | CA351756440 | VHL | c.*252C>A (n.*252C>A) c.711C>A (n.711C>A) c.686C>A (p.Pro229Gln) c.575C>A (p.Pro192Gln) c.452C>A (p.Pro151Gln) n.711C>A c.*129C>A (n.*129C>A) | |
3 | g.10149898C= | CA1345062756 | VHL | c.*252C= (n.*252C=) c.711C= (n.711C=) c.686C= (p.Pro229=) c.575C= (p.Pro192=) c.452C= (p.Pro151=) n.711C= c.*129C= (n.*129C=) | |
3 | g.10149898C>G | CA70052552 | VHL | c.*252C>G (n.*252C>G) c.711C>G (n.711C>G) c.686C>G (p.Pro229Arg) c.575C>G (p.Pro192Arg) c.452C>G (p.Pro151Arg) n.711C>G c.*129C>G (n.*129C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10149898C>T | CA351756444 | VHL | c.*252C>T (n.*252C>T) c.711C>T (n.711C>T) c.686C>T (p.Pro229Leu) c.575C>T (p.Pro192Leu) c.452C>T (p.Pro151Leu) n.711C>T c.*129C>T (n.*129C>T) | ClinVar dbSNP COSMIC |
3 | g.10149899A= | CA1345062763 | VHL | c.*253A= (n.*253A=) c.712A= (n.712A=) c.687A= (p.Pro229=) c.576A= (p.Pro192=) c.453A= (p.Pro151=) n.712A= c.*130A= (n.*130A=) | |
3 | g.10149899A>C | CA432423739 | VHL | c.*253A>C (n.*253A>C) c.712A>C (n.712A>C) c.687A>C (p.Pro229=) c.576A>C (p.Pro192=) c.453A>C (p.Pro151=) n.712A>C c.*130A>C (n.*130A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10149899A>G | CA432423744 | VHL | c.*253A>G (n.*253A>G) c.712A>G (n.712A>G) c.687A>G (p.Pro229=) c.576A>G (p.Pro192=) c.453A>G (p.Pro151=) n.712A>G c.*130A>G (n.*130A>G) | |
3 | g.10149899A>T | CA432423742 | VHL | c.*253A>T (n.*253A>T) c.712A>T (n.712A>T) c.687A>T (p.Pro229=) c.576A>T (p.Pro192=) c.453A>T (p.Pro151=) n.712A>T c.*130A>T (n.*130A>T) | dbSNP |
3 | g.10149901dup | CA645529568 | VHL | c.*255dup (n.*255dup) c.714dup (n.714dup) c.689dup (p.Asn230LysfsTer?) c.578dup (p.Asn193LysfsTer?) c.455dup (p.Asn152LysfsTer?) n.714dup c.*132dup (n.*132dup) | COSMIC |
3 | g.10149901del | CA432423740 | VHL | c.*255del (n.*255del) c.714del (n.714del) c.689del (p.Asn230MetfsTer9) c.578del (p.Asn193MetfsTer9) c.455del (p.Asn152MetfsTer9) n.714del c.*132del (n.*132del) | COSMIC |
3 | g.10149900A>C | CA351756446 | VHL | c.*254A>C (n.*254A>C) c.713A>C (n.713A>C) c.688A>C (p.Asn230His) c.577A>C (p.Asn193His) c.454A>C (p.Asn152His) n.713A>C c.*131A>C (n.*131A>C) | |
3 | g.10149900A>G | CA351756447 | VHL | c.*254A>G (n.*254A>G) c.713A>G (n.713A>G) c.688A>G (p.Asn230Asp) c.577A>G (p.Asn193Asp) c.454A>G (p.Asn152Asp) n.713A>G c.*131A>G (n.*131A>G) | |
3 | g.10149900A>T | CA351756450 | VHL | c.*254A>T (n.*254A>T) c.713A>T (n.713A>T) c.688A>T (p.Asn230Tyr) c.577A>T (p.Asn193Tyr) c.454A>T (p.Asn152Tyr) n.713A>T c.*131A>T (n.*131A>T) | dbSNP |
3 | g.10149901A= | CA1345062775 | VHL | c.*255A= (n.*255A=) c.714A= (n.714A=) c.689A= (p.Asn230=) c.578A= (p.Asn193=) c.455A= (p.Asn152=) n.714A= c.*132A= (n.*132A=) | |
3 | g.10149901A>C | CA351756453 | VHL | c.*255A>C (n.*255A>C) c.714A>C (n.714A>C) c.689A>C (p.Asn230Thr) c.578A>C (p.Asn193Thr) c.455A>C (p.Asn152Thr) n.714A>C c.*132A>C (n.*132A>C) | |
3 | g.10149901A>G | CA10584231 | VHL | c.*255A>G (n.*255A>G) c.714A>G (n.714A>G) c.689A>G (p.Asn230Ser) c.578A>G (p.Asn193Ser) c.455A>G (p.Asn152Ser) n.714A>G c.*132A>G (n.*132A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10149901A>T | CA351756456 | VHL | c.*255A>T (n.*255A>T) c.714A>T (n.714A>T) c.689A>T (p.Asn230Ile) c.578A>T (p.Asn193Ile) c.455A>T (p.Asn152Ile) n.714A>T c.*132A>T (n.*132A>T) | dbSNP gnomAD v4 |
3 | g.10149901_10149903delinsATG | CA1345062773 | VHL | c.*255_*257delinsATG (n.*255_*257delinsATG) c.714_716delinsATG (n.714_716delinsATG) c.689_691delinsATG (p.Asn230=) c.578_580delinsATG (p.Asn193=) c.455_457delinsATG (p.Asn152=) n.714_716delinsATG c.*132_*134delinsATG (n.*132_*134delinsATG) | |
3 | g.10149902T>A | CA16611097 | VHL | c.*256T>A (n.*256T>A) c.715T>A (n.715T>A) c.690T>A (p.Asn230Lys) c.579T>A (p.Asn193Lys) c.456T>A (p.Asn152Lys) n.715T>A c.*133T>A (n.*133T>A) | ClinVar dbSNP |
3 | g.10149902T>C | CA16611070 | VHL | c.*256T>C (n.*256T>C) c.715T>C (n.715T>C) c.690T>C (p.Asn230=) c.579T>C (p.Asn193=) c.456T>C (p.Asn152=) n.715T>C c.*133T>C (n.*133T>C) | ClinVar dbSNP |
3 | g.10149902T>G | CA351756460 | VHL | c.*256T>G (n.*256T>G) c.715T>G (n.715T>G) c.690T>G (p.Asn230Lys) c.579T>G (p.Asn193Lys) c.456T>G (p.Asn152Lys) n.715T>G c.*133T>G (n.*133T>G) | |
3 | g.10149902T= | CA1345062787 | VHL | c.*256T= (n.*256T=) c.715T= (n.715T=) c.690T= (p.Asn230=) c.579T= (p.Asn193=) c.456T= (p.Asn152=) n.715T= c.*133T= (n.*133T=) | |
3 | g.10149904_10149905del | CA70052556 | VHL | c.*258_*259del (n.*258_*259del) c.717_718del (n.717_718del) c.692_693del (p.Val231AlafsTer?) c.581_582del (p.Val194AlafsTer?) c.458_459del (p.Val153AlafsTer?) n.717_718del c.*135_*136del (n.*135_*136del) | dbSNP COSMIC COSMIC |
3 | g.10149902_10149903insA | CA432423760 | VHL | c.*256_*257insA (n.*256_*257insA) c.715_716insA (n.715_716insA) c.690_691insA (p.Val231SerfsTer?) c.579_580insA (p.Val194SerfsTer?) c.456_457insA (p.Val153SerfsTer?) n.715_716insA c.*133_*134insA (n.*133_*134insA) | |
3 | g.10149903G>A | CA351756469 | VHL | c.*257G>A (n.*257G>A) c.716G>A (n.716G>A) c.691G>A (p.Val231Met) c.580G>A (p.Val194Met) c.457G>A (p.Val153Met) n.716G>A c.*134G>A (n.*134G>A) | ClinVar dbSNP |
3 | g.10149903G>C | CA351756466 | VHL | c.*257G>C (n.*257G>C) c.716G>C (n.716G>C) c.691G>C (p.Val231Leu) c.580G>C (p.Val194Leu) c.457G>C (p.Val153Leu) n.716G>C c.*134G>C (n.*134G>C) | dbSNP |
3 | g.10149903G= | CA1345062796 | VHL | c.*257G= (n.*257G=) c.716G= (n.716G=) c.691G= (p.Val231=) c.580G= (p.Val194=) c.457G= (p.Val153=) n.716G= c.*134G= (n.*134G=) | |
3 | g.10149903G>T | CA351756464 | VHL | c.*257G>T (n.*257G>T) c.716G>T (n.716G>T) c.691G>T (p.Val231Leu) c.580G>T (p.Val194Leu) c.457G>T (p.Val153Leu) n.716G>T c.*134G>T (n.*134G>T) | |
3 | g.10149904T>A | CA351756473 | VHL | c.*258T>A (n.*258T>A) c.717T>A (n.717T>A) c.692T>A (p.Val231Glu) c.581T>A (p.Val194Glu) c.458T>A (p.Val153Glu) n.717T>A c.*135T>A (n.*135T>A) | dbSNP |
3 | g.10149904T>C | CA351756478 | VHL | c.*258T>C (n.*258T>C) c.717T>C (n.717T>C) c.692T>C (p.Val231Ala) c.581T>C (p.Val194Ala) c.458T>C (p.Val153Ala) n.717T>C c.*135T>C (n.*135T>C) | |
3 | g.10149904T>G | CA351756475 | VHL | c.*258T>G (n.*258T>G) c.717T>G (n.717T>G) c.692T>G (p.Val231Gly) c.581T>G (p.Val194Gly) c.458T>G (p.Val153Gly) n.717T>G c.*135T>G (n.*135T>G) | ClinVar dbSNP |
3 | g.10149904T= | CA1345062803 | VHL | c.*258T= (n.*258T=) c.717T= (n.717T=) c.692T= (p.Val231=) c.581T= (p.Val194=) c.458T= (p.Val153=) n.717T= c.*135T= (n.*135T=) | |
3 | g.10149905G>A | CA432423767 | VHL | c.*259G>A (n.*259G>A) c.718G>A (n.718G>A) c.693G>A (p.Val231=) c.582G>A (p.Val194=) c.459G>A (p.Val153=) n.718G>A c.*136G>A (n.*136G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.10149905G>C | CA432423771 | VHL | c.*259G>C (n.*259G>C) c.718G>C (n.718G>C) c.693G>C (p.Val231=) c.582G>C (p.Val194=) c.459G>C (p.Val153=) n.718G>C c.*136G>C (n.*136G>C) | dbSNP |
3 | g.10149905G= | CA1345062807 | VHL | c.*259G= (n.*259G=) c.718G= (n.718G=) c.693G= (p.Val231=) c.582G= (p.Val194=) c.459G= (p.Val153=) n.718G= c.*136G= (n.*136G=) | |
3 | g.10149905G>T | CA432423769 | VHL | c.*259G>T (n.*259G>T) c.718G>T (n.718G>T) c.693G>T (p.Val231=) c.582G>T (p.Val194=) c.459G>T (p.Val153=) n.718G>T c.*136G>T (n.*136G>T) | ClinVar COSMIC |
3 | g.10149905_10149906insT | CA645529569 | VHL | c.*259_*260insT (n.*259_*260insT) c.718_719insT (n.718_719insT) c.693_694insT (p.Gln232SerfsTer?) c.582_583insT (p.Gln195SerfsTer?) c.459_460insT (p.Gln154SerfsTer?) n.718_719insT c.*136_*137insT (n.*136_*137insT) | COSMIC |
3 | g.10149906C>A | CA351756481 | VHL | c.*260C>A (n.*260C>A) c.719C>A (n.719C>A) c.694C>A (p.Gln232Lys) c.583C>A (p.Gln195Lys) c.460C>A (p.Gln154Lys) n.719C>A c.*137C>A (n.*137C>A) | dbSNP |
3 | g.10149906C= | CA1345062814 | VHL | c.*260C= (n.*260C=) c.719C= (n.719C=) c.694C= (p.Gln232=) c.583C= (p.Gln195=) c.460C= (p.Gln154=) n.719C= c.*137C= (n.*137C=) | |
3 | g.10149906C>G | CA351756483 | VHL | c.*260C>G (n.*260C>G) c.719C>G (n.719C>G) c.694C>G (p.Gln232Glu) c.583C>G (p.Gln195Glu) c.460C>G (p.Gln154Glu) n.719C>G c.*137C>G (n.*137C>G) | dbSNP |
3 | g.10149906C>T | CA70052558 | VHL | c.*260C>T (n.*260C>T) c.719C>T (n.719C>T) c.694C>T (p.Gln232Ter) c.583C>T (p.Gln195Ter) c.460C>T (p.Gln154Ter) n.719C>T c.*137C>T (n.*137C>T) | ClinVar dbSNP COSMIC |
3 | g.10149906_10149908delinsCAG | CA1345062817 | VHL | c.*260_*262delinsCAG (n.*260_*262delinsCAG) c.719_721delinsCAG (n.719_721delinsCAG) c.694_696delinsCAG (p.Gln232=) c.583_585delinsCAG (p.Gln195=) c.460_462delinsCAG (p.Gln154=) n.719_721delinsCAG c.*137_*139delinsCAG (n.*137_*139delinsCAG) | |
3 | g.10149908_10149929dup | CA913190160 | VHL | c.*262_*283dup (n.*262_*283dup) c.721_742dup (n.721_742dup) c.696_717dup (p.Gln240GlufsTer?) c.585_606dup (p.Gln203GlufsTer?) c.462_483dup (p.Gln162GlufsTer?) n.721_742dup c.*139_*160dup (n.*139_*160dup) | ClinVar dbSNP |
3 | g.10149906_10149907insT | CA432423779 | VHL | c.*260_*261insT (n.*260_*261insT) c.719_720insT (n.719_720insT) c.694_695insT (p.Gln232LeufsTer?) c.583_584insT (p.Gln195LeufsTer?) c.460_461insT (p.Gln154LeufsTer?) n.719_720insT c.*137_*138insT (n.*137_*138insT) | |
3 | g.10149907A>C | CA351756493 | VHL | c.*261A>C (n.*261A>C) c.720A>C (n.720A>C) c.695A>C (p.Gln232Pro) c.584A>C (p.Gln195Pro) c.461A>C (p.Gln154Pro) n.720A>C c.*138A>C (n.*138A>C) | ClinVar gnomAD v4 |
3 | g.10149907A>G | CA351756496 | VHL | c.*261A>G (n.*261A>G) c.720A>G (n.720A>G) c.695A>G (p.Gln232Arg) c.584A>G (p.Gln195Arg) c.461A>G (p.Gln154Arg) n.720A>G c.*138A>G (n.*138A>G) | ClinVar COSMIC |
3 | g.10149907A>T | CA351756490 | VHL | c.*261A>T (n.*261A>T) c.720A>T (n.720A>T) c.695A>T (p.Gln232Leu) c.584A>T (p.Gln195Leu) c.461A>T (p.Gln154Leu) n.720A>T c.*138A>T (n.*138A>T) | |
3 | g.10149908_10149909del | CA645529570 | VHL | c.*262_*263del (n.*262_*263del) c.721_722del (n.721_722del) c.696_697del (p.Lys233ArgfsTer?) c.585_586del (p.Lys196ArgfsTer?) c.462_463del (p.Lys155ArgfsTer?) n.721_722del c.*139_*140del (n.*139_*140del) | ClinVar dbSNP COSMIC |
3 | g.10149910_10149913dup | CA357099 | VHL | c.*264_*267dup (n.*264_*267dup) c.723_726dup (n.723_726dup) c.698_701dup (p.Asp234GlufsTer?) c.587_590dup (p.Asp197GlufsTer?) c.464_467dup (p.Asp156GlufsTer?) n.723_726dup c.*141_*144dup (n.*141_*144dup) | ClinVar dbSNP |
3 | g.10149908G>A | CA432423787 | VHL | c.*262G>A (n.*262G>A) c.721G>A (n.721G>A) c.696G>A (p.Gln232=) c.585G>A (p.Gln195=) c.462G>A (p.Gln154=) n.721G>A c.*139G>A (n.*139G>A) | dbSNP |
3 | g.10149908G>C | CA10582118 | VHL | c.*262G>C (n.*262G>C) c.721G>C (n.721G>C) c.696G>C (p.Gln232His) c.585G>C (p.Gln195His) c.462G>C (p.Gln154His) n.721G>C c.*139G>C (n.*139G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10149908G= | CA1345062836 | VHL | c.*262G= (n.*262G=) c.721G= (n.721G=) c.696G= (p.Gln232=) c.585G= (p.Gln195=) c.462G= (p.Gln154=) n.721G= c.*139G= (n.*139G=) | |
3 | g.10149908G>T | CA351756499 | VHL | c.*262G>T (n.*262G>T) c.721G>T (n.721G>T) c.696G>T (p.Gln232His) c.585G>T (p.Gln195His) c.462G>T (p.Gln154His) n.721G>T c.*139G>T (n.*139G>T) | |
3 | g.10149910_10149919del | CA645529571 | VHL | c.*264_*273del (n.*264_*273del) c.723_732del (n.723_732del) c.698_707del (p.Lys233SerfsTer3) c.587_596del (p.Lys196SerfsTer3) c.464_473del (p.Lys155SerfsTer3) n.723_732del c.*141_*150del (n.*141_*150del) | COSMIC |
3 | g.10149909A= | CA1345062847 | VHL | c.*263A= (n.*263A=) c.722A= (n.722A=) c.697A= (p.Lys233=) c.586A= (p.Lys196=) c.463A= (p.Lys155=) n.722A= c.*140A= (n.*140A=) | |
3 | g.10149909A>C | CA351756503 | VHL | c.*263A>C (n.*263A>C) c.722A>C (n.722A>C) c.697A>C (p.Lys233Gln) c.586A>C (p.Lys196Gln) c.463A>C (p.Lys155Gln) n.722A>C c.*140A>C (n.*140A>C) | |
3 | g.10149909A>G | CA16611099 | VHL | c.*263A>G (n.*263A>G) c.722A>G (n.722A>G) c.697A>G (p.Lys233Glu) c.586A>G (p.Lys196Glu) c.463A>G (p.Lys155Glu) n.722A>G c.*140A>G (n.*140A>G) | ClinVar dbSNP gnomAD v4 |
3 | g.10149909A>T | CA020507 | VHL | c.*263A>T (n.*263A>T) c.722A>T (n.722A>T) c.697A>T (p.Lys233Ter) c.586A>T (p.Lys196Ter) c.463A>T (p.Lys155Ter) n.722A>T c.*140A>T (n.*140A>T) | ClinVar dbSNP COSMIC |
3 | g.10149911dup | CA279940 | VHL | c.*265dup (n.*265dup) c.724dup (n.724dup) c.699dup (p.Asp234ArgfsTer?) c.588dup (p.Asp197ArgfsTer?) c.465dup (p.Asp156ArgfsTer?) n.724dup c.*142dup (n.*142dup) | ClinVar dbSNP |
3 | g.10149911del | CA432423790 | VHL | c.*265del (n.*265del) c.724del (n.724del) c.699del (p.Asp234ThrfsTer5) c.588del (p.Asp197ThrfsTer5) c.465del (p.Asp156ThrfsTer5) n.724del c.*142del (n.*142del) | ClinVar COSMIC |
3 | g.10149910_10149911del | CA645529572 | VHL | c.*264_*265del (n.*264_*265del) c.723_724del (n.723_724del) c.698_699del (p.Lys233ArgfsTer?) c.587_588del (p.Lys196ArgfsTer?) c.464_465del (p.Lys155ArgfsTer?) n.723_724del c.*141_*142del (n.*141_*142del) | COSMIC |
3 | g.10149910A>C | CA351756510 | VHL | c.*264A>C (n.*264A>C) c.723A>C (n.723A>C) c.698A>C (p.Lys233Thr) c.587A>C (p.Lys196Thr) c.464A>C (p.Lys155Thr) n.723A>C c.*141A>C (n.*141A>C) | |
3 | g.10149910A>G | CA351756511 | VHL | c.*264A>G (n.*264A>G) c.723A>G (n.723A>G) c.698A>G (p.Lys233Arg) c.587A>G (p.Lys196Arg) c.464A>G (p.Lys155Arg) n.723A>G c.*141A>G (n.*141A>G) | |
3 | g.10149910A>T | CA351756514 | VHL | c.*264A>T (n.*264A>T) c.723A>T (n.723A>T) c.698A>T (p.Lys233Ile) c.587A>T (p.Lys196Ile) c.464A>T (p.Lys155Ile) n.723A>T c.*141A>T (n.*141A>T) | |
3 | g.10149910_10149916del | CA645529573 | VHL | c.*264_*270del (n.*264_*270del) c.723_729del (n.723_729del) c.698_704del (p.Lys233ArgfsTer4) c.587_593del (p.Lys196ArgfsTer4) c.464_470del (p.Lys155ArgfsTer4) n.723_729del c.*141_*147del (n.*141_*147del) | COSMIC |
3 | g.10149910_10149917del | CA645529574 | VHL | c.*264_*271del (n.*264_*271del) c.723_730del (n.723_730del) c.698_705del (p.Lys233ArgfsTer?) c.587_594del (p.Lys196ArgfsTer?) c.464_471del (p.Lys155ArgfsTer?) n.723_730del c.*141_*148del (n.*141_*148del) | COSMIC |
3 | g.10149911A= | CA1345062856 | VHL | c.*265A= (n.*265A=) c.724A= (n.724A=) c.699A= (p.Lys233=) c.588A= (p.Lys196=) c.465A= (p.Lys155=) n.724A= c.*142A= (n.*142A=) | |
3 | g.10149911A>C | CA351756518 | VHL | c.*265A>C (n.*265A>C) c.724A>C (n.724A>C) c.699A>C (p.Lys233Asn) c.588A>C (p.Lys196Asn) c.465A>C (p.Lys155Asn) n.724A>C c.*142A>C (n.*142A>C) | |
3 | g.10149911A>G | CA70052605 | VHL | c.*265A>G (n.*265A>G) c.724A>G (n.724A>G) c.699A>G (p.Lys233=) c.588A>G (p.Lys196=) c.465A>G (p.Lys155=) n.724A>G c.*142A>G (n.*142A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10149911A>T | CA351756520 | VHL | c.*265A>T (n.*265A>T) c.724A>T (n.724A>T) c.699A>T (p.Lys233Asn) c.588A>T (p.Lys196Asn) c.465A>T (p.Lys155Asn) n.724A>T c.*142A>T (n.*142A>T) | |
3 | g.10149912_10149913del | CA645529575 | VHL | c.*266_*267del (n.*266_*267del) c.725_726del (n.725_726del) c.700_701del (p.Asp234ProfsTer?) c.589_590del (p.Asp197ProfsTer?) c.466_467del (p.Asp156ProfsTer?) n.725_726del c.*143_*144del (n.*143_*144del) | COSMIC |
3 | g.10149912del | CA913189233 | VHL | c.*266del (n.*266del) c.725del (n.725del) c.700del (p.Asp234ThrfsTer5) c.589del (p.Asp197ThrfsTer5) c.466del (p.Asp156ThrfsTer5) n.725del c.*143del (n.*143del) | |
3 | g.10149912G>A | CA351756524 | VHL | c.*266G>A (n.*266G>A) c.725G>A (n.725G>A) c.700G>A (p.Asp234Asn) c.589G>A (p.Asp197Asn) c.466G>A (p.Asp156Asn) n.725G>A c.*143G>A (n.*143G>A) | ClinVar dbSNP |
3 | g.10149912G>C | CA16617793 | VHL | c.*266G>C (n.*266G>C) c.725G>C (n.725G>C) c.700G>C (p.Asp234His) c.589G>C (p.Asp197His) c.466G>C (p.Asp156His) n.725G>C c.*143G>C (n.*143G>C) | ClinVar dbSNP |
3 | g.10149912G= | CA1345062863 | VHL | c.*266G= (n.*266G=) c.725G= (n.725G=) c.700G= (p.Asp234=) c.589G= (p.Asp197=) c.466G= (p.Asp156=) n.725G= c.*143G= (n.*143G=) | |
3 | g.10149912G>T | CA351756526 | VHL | c.*266G>T (n.*266G>T) c.725G>T (n.725G>T) c.700G>T (p.Asp234Tyr) c.589G>T (p.Asp197Tyr) c.466G>T (p.Asp156Tyr) n.725G>T c.*143G>T (n.*143G>T) | |
3 | g.10149913del | CA432423804 | VHL | c.*267del (n.*267del) c.726del (n.726del) c.701del (p.Asp234AlafsTer5) c.590del (p.Asp197AlafsTer5) c.467del (p.Asp156AlafsTer5) n.726del c.*144del (n.*144del) | COSMIC |
3 | g.10149913A= | CA1345062871 | VHL | c.*267A= (n.*267A=) c.726A= (n.726A=) c.701A= (p.Asp234=) c.590A= (p.Asp197=) c.467A= (p.Asp156=) n.726A= c.*144A= (n.*144A=) | |
3 | g.10149913A>C | CA041749 | VHL | c.*267A>C (n.*267A>C) c.726A>C (n.726A>C) c.701A>C (p.Asp234Ala) c.590A>C (p.Asp197Ala) c.467A>C (p.Asp156Ala) n.726A>C c.*144A>C (n.*144A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10149913A>G | CA351756530 | VHL | c.*267A>G (n.*267A>G) c.726A>G (n.726A>G) c.701A>G (p.Asp234Gly) c.590A>G (p.Asp197Gly) c.467A>G (p.Asp156Gly) n.726A>G c.*144A>G (n.*144A>G) | dbSNP |
3 | g.10149913A>T | CA351756533 | VHL | c.*267A>T (n.*267A>T) c.726A>T (n.726A>T) c.701A>T (p.Asp234Val) c.590A>T (p.Asp197Val) c.467A>T (p.Asp156Val) n.726A>T c.*144A>T (n.*144A>T) | dbSNP |
3 | g.10149915_10149930del | CA645529576 | VHL | c.*269_*284del (n.*269_*284del) c.728_743del (n.728_743del) c.703_718del (p.Leu235ArgfsTer16) c.592_607del (p.Leu198ArgfsTer16) c.469_484del (p.Leu157ArgfsTer16) n.728_743del c.*146_*161del (n.*146_*161del) | ClinVar COSMIC |
3 | g.10149914C>A | CA351756536 | VHL | c.*268C>A (n.*268C>A) c.727C>A (n.727C>A) c.702C>A (p.Asp234Glu) c.591C>A (p.Asp197Glu) c.468C>A (p.Asp156Glu) n.727C>A c.*145C>A (n.*145C>A) | dbSNP |
3 | g.10149914C= | CA1345062883 | VHL | c.*268C= (n.*268C=) c.727C= (n.727C=) c.702C= (p.Asp234=) c.591C= (p.Asp197=) c.468C= (p.Asp156=) n.727C= c.*145C= (n.*145C=) | |
3 | g.10149914C>G | CA351756538 | VHL | c.*268C>G (n.*268C>G) c.727C>G (n.727C>G) c.702C>G (p.Asp234Glu) c.591C>G (p.Asp197Glu) c.468C>G (p.Asp156Glu) n.727C>G c.*145C>G (n.*145C>G) | dbSNP |
3 | g.10149914C>T | CA432423811 | VHL | c.*268C>T (n.*268C>T) c.727C>T (n.727C>T) c.702C>T (p.Asp234=) c.591C>T (p.Asp197=) c.468C>T (p.Asp156=) n.727C>T c.*145C>T (n.*145C>T) | ClinVar dbSNP |
3 | g.10149915del | CA432423813 | VHL | c.*269del (n.*269del) c.728del (n.728del) c.703del (p.Leu235TrpfsTer4) c.592del (p.Leu198TrpfsTer4) c.469del (p.Leu157TrpfsTer4) n.728del c.*146del (n.*146del) | COSMIC |
3 | g.10149915C>A | CA351756540 | VHL | c.*269C>A (n.*269C>A) c.728C>A (n.728C>A) c.703C>A (p.Leu235Met) c.592C>A (p.Leu198Met) c.469C>A (p.Leu157Met) n.728C>A c.*146C>A (n.*146C>A) | dbSNP |
3 | g.10149915C= | CA1345062889 | VHL | c.*269C= (n.*269C=) c.728C= (n.728C=) c.703C= (p.Leu235=) c.592C= (p.Leu198=) c.469C= (p.Leu157=) n.728C= c.*146C= (n.*146C=) | |
3 | g.10149915C>G | CA351756542 | VHL | c.*269C>G (n.*269C>G) c.728C>G (n.728C>G) c.703C>G (p.Leu235Val) c.592C>G (p.Leu198Val) c.469C>G (p.Leu157Val) n.728C>G c.*146C>G (n.*146C>G) | ClinVar dbSNP |
3 | g.10149915C>T | CA432423817 | VHL | c.*269C>T (n.*269C>T) c.728C>T (n.728C>T) c.703C>T (p.Leu235=) c.592C>T (p.Leu198=) c.469C>T (p.Leu157=) n.728C>T c.*146C>T (n.*146C>T) | ClinVar dbSNP COSMIC |
3 | g.10149915_10149916del | CA658795185 | VHL | c.*269_*270del (n.*269_*270del) c.728_729del (n.728_729del) c.703_704del (p.Leu235GlyfsTer?) c.592_593del (p.Leu198GlyfsTer?) c.469_470del (p.Leu157GlyfsTer?) n.728_729del c.*146_*147del (n.*146_*147del) | |
3 | g.10149915_10149917del | CA2573136194 | VHL | c.*269_*271del (n.*269_*271del) c.728_730del (n.728_730del) c.703_705del (p.Leu235del) c.592_594del (p.Leu198del) c.469_471del (p.Leu157del) n.728_730del c.*146_*148del (n.*146_*148del) | ClinVar dbSNP |
3 | g.10149916T>A | CA351756548 | VHL | c.*270T>A (n.*270T>A) c.729T>A (n.729T>A) c.704T>A (p.Leu235Gln) c.593T>A (p.Leu198Gln) c.470T>A (p.Leu157Gln) n.729T>A c.*147T>A (n.*147T>A) | ClinVar dbSNP |
3 | g.10149916T>C | CA357145 | VHL | c.*270T>C (n.*270T>C) c.729T>C (n.729T>C) c.704T>C (p.Leu235Pro) c.593T>C (p.Leu198Pro) c.470T>C (p.Leu157Pro) n.729T>C c.*147T>C (n.*147T>C) | ClinVar dbSNP COSMIC |
3 | g.10149916T>G | CA351756545 | VHL | c.*270T>G (n.*270T>G) c.729T>G (n.729T>G) c.704T>G (p.Leu235Arg) c.593T>G (p.Leu198Arg) c.470T>G (p.Leu157Arg) n.729T>G c.*147T>G (n.*147T>G) | COSMIC |
3 | g.10149916T= | CA1345062897 | VHL | c.*270T= (n.*270T=) c.729T= (n.729T=) c.704T= (p.Leu235=) c.593T= (p.Leu198=) c.470T= (p.Leu157=) n.729T= c.*147T= (n.*147T=) | |
3 | g.10149916_10149917dup | CA645529577 | VHL | c.*270_*271dup (n.*270_*271dup) c.729_730dup (n.729_730dup) c.704_705dup (p.Glu236TrpfsTer4) c.593_594dup (p.Glu199TrpfsTer4) c.470_471dup (p.Glu158TrpfsTer4) n.729_730dup c.*147_*148dup (n.*147_*148dup) | COSMIC |
3 | g.10149917G>A | CA432423827 | VHL | c.*271G>A (n.*271G>A) c.730G>A (n.730G>A) c.705G>A (p.Leu235=) c.594G>A (p.Leu198=) c.471G>A (p.Leu157=) n.730G>A c.*148G>A (n.*148G>A) | ClinVar dbSNP COSMIC |
3 | g.10149917G>C | CA432423824 | VHL | c.*271G>C (n.*271G>C) c.730G>C (n.730G>C) c.705G>C (p.Leu235=) c.594G>C (p.Leu198=) c.471G>C (p.Leu157=) n.730G>C c.*148G>C (n.*148G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10149917G= | CA1345062906 | VHL | c.*271G= (n.*271G=) c.730G= (n.730G=) c.705G= (p.Leu235=) c.594G= (p.Leu198=) c.471G= (p.Leu157=) n.730G= c.*148G= (n.*148G=) | |
3 | g.10149917G>T | CA432423822 | VHL | c.*271G>T (n.*271G>T) c.730G>T (n.730G>T) c.705G>T (p.Leu235=) c.594G>T (p.Leu198=) c.471G>T (p.Leu157=) n.730G>T c.*148G>T (n.*148G>T) | dbSNP |
3 | g.10149918G>A | CA351756551 | VHL | c.*272G>A (n.*272G>A) c.731G>A (n.731G>A) c.706G>A (p.Glu236Lys) c.595G>A (p.Glu199Lys) c.472G>A (p.Glu158Lys) n.731G>A c.*149G>A (n.*149G>A) | ClinVar dbSNP |
3 | g.10149918G>C | CA351756553 | VHL | c.*272G>C (n.*272G>C) c.731G>C (n.731G>C) c.706G>C (p.Glu236Gln) c.595G>C (p.Glu199Gln) c.472G>C (p.Glu158Gln) n.731G>C c.*149G>C (n.*149G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10149918G= | CA1345062911 | VHL | c.*272G= (n.*272G=) c.731G= (n.731G=) c.706G= (p.Glu236=) c.595G= (p.Glu199=) c.472G= (p.Glu158=) n.731G= c.*149G= (n.*149G=) | |
3 | g.10149918G>T | CA351756556 | VHL | c.*272G>T (n.*272G>T) c.731G>T (n.731G>T) c.706G>T (p.Glu236Ter) c.595G>T (p.Glu199Ter) c.472G>T (p.Glu158Ter) n.731G>T c.*149G>T (n.*149G>T) | COSMIC |
3 | g.10149920_10149927del | CA645529578 | VHL | c.*274_*281del (n.*274_*281del) c.733_740del (n.733_740del) c.708_715del (p.Glu236AspfsTer?) c.597_604del (p.Glu199AspfsTer?) c.474_481del (p.Glu158AspfsTer?) n.733_740del c.*151_*158del (n.*151_*158del) | COSMIC |
3 | g.10149919A= | CA1345062922 | VHL | c.*273A= (n.*273A=) c.732A= (n.732A=) c.707A= (p.Glu236=) c.596A= (p.Glu199=) c.473A= (p.Glu158=) n.732A= c.*150A= (n.*150A=) | |
3 | g.10149919A>C | CA041760 | VHL | c.*273A>C (n.*273A>C) c.732A>C (n.732A>C) c.707A>C (p.Glu236Ala) c.596A>C (p.Glu199Ala) c.473A>C (p.Glu158Ala) n.732A>C c.*150A>C (n.*150A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10149919A>G | CA351756560 | VHL | c.*273A>G (n.*273A>G) c.732A>G (n.732A>G) c.707A>G (p.Glu236Gly) c.596A>G (p.Glu199Gly) c.473A>G (p.Glu158Gly) n.732A>G c.*150A>G (n.*150A>G) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10149919A>T | CA351756563 | VHL | c.*273A>T (n.*273A>T) c.732A>T (n.732A>T) c.707A>T (p.Glu236Val) c.596A>T (p.Glu199Val) c.473A>T (p.Glu158Val) n.732A>T c.*150A>T (n.*150A>T) | ClinVar dbSNP |
3 | g.10149920del | CA2580614139 | VHL | c.*274del (n.*274del) c.733del (n.733del) c.708del (p.Glu236AspfsTer3) c.597del (p.Glu199AspfsTer3) c.474del (p.Glu158AspfsTer3) n.733del c.*151del (n.*151del) | ClinVar |
3 | g.10149920G>A | CA432423837 | VHL | c.*274G>A (n.*274G>A) c.733G>A (n.733G>A) c.708G>A (p.Glu236=) c.597G>A (p.Glu199=) c.474G>A (p.Glu158=) n.733G>A c.*151G>A (n.*151G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10149920G>C | CA351756565 | VHL | c.*274G>C (n.*274G>C) c.733G>C (n.733G>C) c.708G>C (p.Glu236Asp) c.597G>C (p.Glu199Asp) c.474G>C (p.Glu158Asp) n.733G>C c.*151G>C (n.*151G>C) | |
3 | g.10149920G= | CA1345062936 | VHL | c.*274G= (n.*274G=) c.733G= (n.733G=) c.708G= (p.Glu236=) c.597G= (p.Glu199=) c.474G= (p.Glu158=) n.733G= c.*151G= (n.*151G=) | |
3 | g.10149920G>T | CA351756567 | VHL | c.*274G>T (n.*274G>T) c.733G>T (n.733G>T) c.708G>T (p.Glu236Asp) c.597G>T (p.Glu199Asp) c.474G>T (p.Glu158Asp) n.733G>T c.*151G>T (n.*151G>T) | |
3 | g.10149920_10149921insA | CA432423842 | VHL | c.*274_*275insA (n.*274_*275insA) c.733_734insA (n.733_734insA) c.708_709insA (p.Arg237ThrfsTer?) c.597_598insA (p.Arg200ThrfsTer?) c.474_475insA (p.Arg159ThrfsTer?) n.733_734insA c.*151_*152insA (n.*151_*152insA) | |
3 | g.10149921del | CA645529579 | VHL | c.*275del (n.*275del) c.734del (n.734del) c.709del (p.Arg237GlyfsTer2) c.598del (p.Arg200GlyfsTer2) c.475del (p.Arg159GlyfsTer2) n.734del c.*152del (n.*152del) | COSMIC |
3 | g.10149921C>A | CA432423844 | VHL | c.*275C>A (n.*275C>A) c.734C>A (n.734C>A) c.709C>A (p.Arg237=) c.598C>A (p.Arg200=) c.475C>A (p.Arg159=) n.734C>A c.*152C>A (n.*152C>A) | dbSNP |
3 | g.10149921C= | CA1345062941 | VHL | c.*275C= (n.*275C=) c.734C= (n.734C=) c.709C= (p.Arg237=) c.598C= (p.Arg200=) c.475C= (p.Arg159=) n.734C= c.*152C= (n.*152C=) | |
3 | g.10149921C>G | CA351756569 | VHL | c.*275C>G (n.*275C>G) c.734C>G (n.734C>G) c.709C>G (p.Arg237Gly) c.598C>G (p.Arg200Gly) c.475C>G (p.Arg159Gly) n.734C>G c.*152C>G (n.*152C>G) | dbSNP |
3 | g.10149921C>T | CA020510 | VHL | c.*275C>T (n.*275C>T) c.734C>T (n.734C>T) c.709C>T (p.Arg237Trp) c.598C>T (p.Arg200Trp) c.475C>T (p.Arg159Trp) n.734C>T c.*152C>T (n.*152C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10149922G>A | CA041791 | VHL | c.*276G>A (n.*276G>A) c.735G>A (n.735G>A) c.710G>A (p.Arg237Gln) c.599G>A (p.Arg200Gln) c.476G>A (p.Arg159Gln) n.735G>A c.*153G>A (n.*153G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10149922G>C | CA351756574 | VHL | c.*276G>C (n.*276G>C) c.735G>C (n.735G>C) c.710G>C (p.Arg237Pro) c.599G>C (p.Arg200Pro) c.476G>C (p.Arg159Pro) n.735G>C c.*153G>C (n.*153G>C) | dbSNP |
3 | g.10149922G= | CA1345062955 | VHL | c.*276G= (n.*276G=) c.735G= (n.735G=) c.710G= (p.Arg237=) c.599G= (p.Arg200=) c.476G= (p.Arg159=) n.735G= c.*153G= (n.*153G=) | |
3 | g.10149922G>T | CA041814 | VHL | c.*276G>T (n.*276G>T) c.735G>T (n.735G>T) c.710G>T (p.Arg237Leu) c.599G>T (p.Arg200Leu) c.476G>T (p.Arg159Leu) n.735G>T c.*153G>T (n.*153G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10149923G>A | CA432423852 | VHL | c.*277G>A (n.*277G>A) c.736G>A (n.736G>A) c.711G>A (p.Arg237=) c.600G>A (p.Arg200=) c.477G>A (p.Arg159=) n.736G>A c.*154G>A (n.*154G>A) | dbSNP |
3 | g.10149923G>C | CA432423849 | VHL | c.*277G>C (n.*277G>C) c.736G>C (n.736G>C) c.711G>C (p.Arg237=) c.600G>C (p.Arg200=) c.477G>C (p.Arg159=) n.736G>C c.*154G>C (n.*154G>C) | dbSNP |
3 | g.10149923G>T | CA432423850 | VHL | c.*277G>T (n.*277G>T) c.736G>T (n.736G>T) c.711G>T (p.Arg237=) c.600G>T (p.Arg200=) c.477G>T (p.Arg159=) n.736G>T c.*154G>T (n.*154G>T) | dbSNP |
3 | g.10149924C>A | CA351756583 | VHL | c.*278C>A (n.*278C>A) c.737C>A (n.737C>A) c.712C>A (p.Leu238Met) c.601C>A (p.Leu201Met) c.478C>A (p.Leu160Met) n.737C>A c.*155C>A (n.*155C>A) | dbSNP |
3 | g.10149924C= | CA1345062959 | VHL | c.*278C= (n.*278C=) c.737C= (n.737C=) c.712C= (p.Leu238=) c.601C= (p.Leu201=) c.478C= (p.Leu160=) n.737C= c.*155C= (n.*155C=) | |
3 | g.10149924C>G | CA351756579 | VHL | c.*278C>G (n.*278C>G) c.737C>G (n.737C>G) c.712C>G (p.Leu238Val) c.601C>G (p.Leu201Val) c.478C>G (p.Leu160Val) n.737C>G c.*155C>G (n.*155C>G) | dbSNP |
3 | g.10149924C>T | CA020522 | VHL | c.*278C>T (n.*278C>T) c.737C>T (n.737C>T) c.712C>T (p.Leu238=) c.601C>T (p.Leu201=) c.478C>T (p.Leu160=) n.737C>T c.*155C>T (n.*155C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.10149925T>A | CA351756587 | VHL | c.*279T>A (n.*279T>A) c.738T>A (n.738T>A) c.713T>A (p.Leu238Gln) c.602T>A (p.Leu201Gln) c.479T>A (p.Leu160Gln) n.738T>A c.*156T>A (n.*156T>A) | dbSNP |
3 | g.10149925T>C | CA351756590 | VHL | c.*279T>C (n.*279T>C) c.738T>C (n.738T>C) c.713T>C (p.Leu238Pro) c.602T>C (p.Leu201Pro) c.479T>C (p.Leu160Pro) n.738T>C c.*156T>C (n.*156T>C) | ClinVar dbSNP COSMIC |
3 | g.10149925T>G | CA351756592 | VHL | c.*279T>G (n.*279T>G) c.738T>G (n.738T>G) c.713T>G (p.Leu238Arg) c.602T>G (p.Leu201Arg) c.479T>G (p.Leu160Arg) n.738T>G c.*156T>G (n.*156T>G) | |
3 | g.10149925dup | CA645529581 | VHL | c.*279dup (n.*279dup) c.738dup (n.738dup) c.713dup (p.Thr239AspfsTer?) c.602dup (p.Thr202AspfsTer?) c.479dup (p.Thr161AspfsTer?) n.738dup c.*156dup (n.*156dup) | COSMIC |
3 | g.10149926G>A | CA432423862 | VHL | c.*280G>A (n.*280G>A) c.739G>A (n.739G>A) c.714G>A (p.Leu238=) c.603G>A (p.Leu201=) c.480G>A (p.Leu160=) n.739G>A c.*157G>A (n.*157G>A) | dbSNP |
3 | g.10149926G>C | CA432423864 | VHL | c.*280G>C (n.*280G>C) c.739G>C (n.739G>C) c.714G>C (p.Leu238=) c.603G>C (p.Leu201=) c.480G>C (p.Leu160=) n.739G>C c.*157G>C (n.*157G>C) | ClinVar dbSNP |
3 | g.10149926G= | CA1345062962 | VHL | c.*280G= (n.*280G=) c.739G= (n.739G=) c.714G= (p.Leu238=) c.603G= (p.Leu201=) c.480G= (p.Leu160=) n.739G= c.*157G= (n.*157G=) | |
3 | g.10149926G>T | CA432423866 | VHL | c.*280G>T (n.*280G>T) c.739G>T (n.739G>T) c.714G>T (p.Leu238=) c.603G>T (p.Leu201=) c.480G>T (p.Leu160=) n.739G>T c.*157G>T (n.*157G>T) | |
3 | g.10149926_10149927insT | CA432423869 | VHL | c.*280_*281insT (n.*280_*281insT) c.739_740insT (n.739_740insT) c.714_715insT (p.Thr239TyrfsTer?) c.603_604insT (p.Thr202TyrfsTer?) c.480_481insT (p.Thr161TyrfsTer?) n.739_740insT c.*157_*158insT (n.*157_*158insT) | |
3 | g.10149927A>C | CA351756595 | VHL | c.*281A>C (n.*281A>C) c.740A>C (n.740A>C) c.715A>C (p.Thr239Pro) c.604A>C (p.Thr202Pro) c.481A>C (p.Thr161Pro) n.740A>C c.*158A>C (n.*158A>C) | dbSNP |
3 | g.10149927A>G | CA351756598 | VHL | c.*281A>G (n.*281A>G) c.740A>G (n.740A>G) c.715A>G (p.Thr239Ala) c.604A>G (p.Thr202Ala) c.481A>G (p.Thr161Ala) n.740A>G c.*158A>G (n.*158A>G) | dbSNP |
3 | g.10149927A>T | CA351756601 | VHL | c.*281A>T (n.*281A>T) c.740A>T (n.740A>T) c.715A>T (p.Thr239Ser) c.604A>T (p.Thr202Ser) c.481A>T (p.Thr161Ser) n.740A>T c.*158A>T (n.*158A>T) | dbSNP |
3 | g.10149927_10149931del | CA645529583 | VHL | c.*281_*285del (n.*281_*285del) c.740_744del (n.740_744del) c.715_719del (p.Thr239GlyfsTer?) c.604_608del (p.Thr202GlyfsTer?) c.481_485del (p.Thr161GlyfsTer?) n.740_744del c.*158_*162del (n.*158_*162del) | COSMIC |
3 | g.10149930_10149931del | CA645529582 | VHL | c.*284_*285del (n.*284_*285del) c.743_744del (n.743_744del) c.718_719del (p.Gln240GlyfsTer?) c.607_608del (p.Gln203GlyfsTer?) c.484_485del (p.Gln162GlyfsTer?) n.743_744del c.*161_*162del (n.*161_*162del) | ClinVar COSMIC COSMIC |
3 | g.10149930_10149946del | CA2740090906 | VHL | c.*284_*300del (n.*284_*300del) c.743_759del (n.743_759del) c.718_734del (p.Gln240SerfsTer?) c.607_623del (p.Gln203SerfsTer?) c.484_500del (p.Gln162SerfsTer?) n.743_759del c.*161_*177del (n.*161_*177del) | ClinVar |
3 | g.10149928C>A | CA351756604 | VHL | c.*282C>A (n.*282C>A) c.741C>A (n.741C>A) c.716C>A (p.Thr239Lys) c.605C>A (p.Thr202Lys) c.482C>A (p.Thr161Lys) n.741C>A c.*159C>A (n.*159C>A) | |
3 | g.10149928C= | CA1345062967 | VHL | c.*282C= (n.*282C=) c.741C= (n.741C=) c.716C= (p.Thr239=) c.605C= (p.Thr202=) c.482C= (p.Thr161=) n.741C= c.*159C= (n.*159C=) | |
3 | g.10149928C>G | CA351756606 | VHL | c.*282C>G (n.*282C>G) c.741C>G (n.741C>G) c.716C>G (p.Thr239Arg) c.605C>G (p.Thr202Arg) c.482C>G (p.Thr161Arg) n.741C>G c.*159C>G (n.*159C>G) | dbSNP |
3 | g.10149928C>T | CA041863 | VHL | c.*282C>T (n.*282C>T) c.741C>T (n.741C>T) c.716C>T (p.Thr239Ile) c.605C>T (p.Thr202Ile) c.482C>T (p.Thr161Ile) n.741C>T c.*159C>T (n.*159C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10149929A= | CA1345062983 | VHL | c.*283A= (n.*283A=) c.742A= (n.742A=) c.717A= (p.Thr239=) c.606A= (p.Thr202=) c.483A= (p.Thr161=) n.742A= c.*160A= (n.*160A=) | |
3 | g.10149929A>C | CA432423876 | VHL | c.*283A>C (n.*283A>C) c.742A>C (n.742A>C) c.717A>C (p.Thr239=) c.606A>C (p.Thr202=) c.483A>C (p.Thr161=) n.742A>C c.*160A>C (n.*160A>C) | ClinVar dbSNP gnomAD v4 |
3 | g.10149929A>G | CA432423878 | VHL | c.*283A>G (n.*283A>G) c.742A>G (n.742A>G) c.717A>G (p.Thr239=) c.606A>G (p.Thr202=) c.483A>G (p.Thr161=) n.742A>G c.*160A>G (n.*160A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10149929A>T | CA432423880 | VHL | c.*283A>T (n.*283A>T) c.742A>T (n.742A>T) c.717A>T (p.Thr239=) c.606A>T (p.Thr202=) c.483A>T (p.Thr161=) n.742A>T c.*160A>T (n.*160A>T) | |
3 | g.10149929dup | CA1139655766 | VHL | c.*283dup (n.*283dup) c.742dup (n.742dup) c.717dup (p.Gln240ThrfsTer?) c.606dup (p.Gln203ThrfsTer?) c.483dup (p.Gln162ThrfsTer?) n.742dup c.*160dup (n.*160dup) | ClinVar dbSNP |
3 | g.10149929_10149930insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG | CA2664400080 | VHL | c.*283_*284insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (n.*283_*284insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG) c.742_743insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (n.742_743insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG) c.717_718insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (p.Gln240SerfsTer10) c.606_607insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (p.Gln203SerfsTer10) c.483_484insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (p.Gln162SerfsTer10) n.742_743insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG c.*160_*161insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (n.*160_*161insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG) | gnomAD v4 |
3 | g.10149930del | CA432423884 | VHL | c.*284del (n.*284del) c.743del (n.743del) c.718del (p.Gln240ArgfsTer16) c.607del (p.Gln203ArgfsTer16) c.484del (p.Gln162ArgfsTer16) n.743del c.*161del (n.*161del) | COSMIC |
3 | g.10149930C>A | CA351756610 | VHL | c.*284C>A (n.*284C>A) c.743C>A (n.743C>A) c.718C>A (p.Gln240Lys) c.607C>A (p.Gln203Lys) c.484C>A (p.Gln162Lys) n.743C>A c.*161C>A (n.*161C>A) | ClinVar dbSNP gnomAD v4 |
3 | g.10149930C= | CA1345062987 | VHL | c.*284C= (n.*284C=) c.743C= (n.743C=) c.718C= (p.Gln240=) c.607C= (p.Gln203=) c.484C= (p.Gln162=) n.743C= c.*161C= (n.*161C=) | |
3 | g.10149930C>G | CA351756612 | VHL | c.*284C>G (n.*284C>G) c.743C>G (n.743C>G) c.718C>G (p.Gln240Glu) c.607C>G (p.Gln203Glu) c.484C>G (p.Gln162Glu) n.743C>G c.*161C>G (n.*161C>G) | dbSNP |
3 | g.10149930C>T | CA041878 | VHL | c.*284C>T (n.*284C>T) c.743C>T (n.743C>T) c.718C>T (p.Gln240Ter) c.607C>T (p.Gln203Ter) c.484C>T (p.Gln162Ter) n.743C>T c.*161C>T (n.*161C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10149932_10149939del | CA645529585 | VHL | c.*286_*293del (n.*286_*293del) c.745_752del (n.745_752del) c.720_727del (p.Gln240HisfsTer?) c.609_616del (p.Gln203HisfsTer?) c.486_493del (p.Gln162HisfsTer?) n.745_752del c.*163_*170del (n.*163_*170del) | COSMIC |
3 | g.10149931A= | CA1345062993 | VHL | c.*285A= (n.*285A=) c.744A= (n.744A=) c.719A= (p.Gln240=) c.608A= (p.Gln203=) c.485A= (p.Gln162=) n.744A= c.*162A= (n.*162A=) | |
3 | g.10149931A>C | CA351756622 | VHL | c.*285A>C (n.*285A>C) c.744A>C (n.744A>C) c.719A>C (p.Gln240Pro) c.608A>C (p.Gln203Pro) c.485A>C (p.Gln162Pro) n.744A>C c.*162A>C (n.*162A>C) | |
3 | g.10149931A>G | CA351756617 | VHL | c.*285A>G (n.*285A>G) c.744A>G (n.744A>G) c.719A>G (p.Gln240Arg) c.608A>G (p.Gln203Arg) c.485A>G (p.Gln162Arg) n.744A>G c.*162A>G (n.*162A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10149931A>T | CA351756619 | VHL | c.*285A>T (n.*285A>T) c.744A>T (n.744A>T) c.719A>T (p.Gln240Leu) c.608A>T (p.Gln203Leu) c.485A>T (p.Gln162Leu) n.744A>T c.*162A>T (n.*162A>T) | dbSNP |
3 | g.10149932G>A | CA432423893 | VHL | c.*286G>A (n.*286G>A) c.745G>A (n.745G>A) c.720G>A (p.Gln240=) c.609G>A (p.Gln203=) c.486G>A (p.Gln162=) n.745G>A c.*163G>A (n.*163G>A) | ClinVar dbSNP |
3 | g.10149932G>C | CA351756626 | VHL | c.*286G>C (n.*286G>C) c.745G>C (n.745G>C) c.720G>C (p.Gln240His) c.609G>C (p.Gln203His) c.486G>C (p.Gln162His) n.745G>C c.*163G>C (n.*163G>C) | dbSNP |
3 | g.10149932G>T | CA351756627 | VHL | c.*286G>T (n.*286G>T) c.745G>T (n.745G>T) c.720G>T (p.Gln240His) c.609G>T (p.Gln203His) c.486G>T (p.Gln162His) n.745G>T c.*163G>T (n.*163G>T) | dbSNP |
3 | g.10149933del | CA2664400081 | VHL | c.*287del (n.*287del) c.746del (n.746del) c.721del (p.Glu241SerfsTer15) c.610del (p.Glu204SerfsTer15) c.487del (p.Glu163SerfsTer15) n.746del c.*164del (n.*164del) | gnomAD v4 |
3 | g.10149933G>A | CA351756630 | VHL | c.*287G>A (n.*287G>A) c.746G>A (n.746G>A) c.721G>A (p.Glu241Lys) c.610G>A (p.Glu204Lys) c.487G>A (p.Glu163Lys) n.746G>A c.*164G>A (n.*164G>A) | dbSNP COSMIC |
3 | g.10149933G>C | CA041897 | VHL | c.*287G>C (n.*287G>C) c.746G>C (n.746G>C) c.721G>C (p.Glu241Gln) c.610G>C (p.Glu204Gln) c.487G>C (p.Glu163Gln) n.746G>C c.*164G>C (n.*164G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10149933G= | CA1345062998 | VHL | c.*287G= (n.*287G=) c.746G= (n.746G=) c.721G= (p.Glu241=) c.610G= (p.Glu204=) c.487G= (p.Glu163=) n.746G= c.*164G= (n.*164G=) | |
3 | g.10149933G>T | CA041909 | VHL | c.*287G>T (n.*287G>T) c.746G>T (n.746G>T) c.721G>T (p.Glu241Ter) c.610G>T (p.Glu204Ter) c.487G>T (p.Glu163Ter) n.746G>T c.*164G>T (n.*164G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10149934A>C | CA351756637 | VHL | c.*288A>C (n.*288A>C) c.747A>C (n.747A>C) c.722A>C (p.Glu241Ala) c.611A>C (p.Glu204Ala) c.488A>C (p.Glu163Ala) n.747A>C c.*165A>C (n.*165A>C) | |
3 | g.10149934A>G | CA351756641 | VHL | c.*288A>G (n.*288A>G) c.747A>G (n.747A>G) c.722A>G (p.Glu241Gly) c.611A>G (p.Glu204Gly) c.488A>G (p.Glu163Gly) n.747A>G c.*165A>G (n.*165A>G) | dbSNP |
3 | g.10149934A>T | CA351756639 | VHL | c.*288A>T (n.*288A>T) c.747A>T (n.747A>T) c.722A>T (p.Glu241Val) c.611A>T (p.Glu204Val) c.488A>T (p.Glu163Val) n.747A>T c.*165A>T (n.*165A>T) | dbSNP |
3 | g.10149934_10149936delinsAGC | CA1345063008 | VHL | c.*288_*290delinsAGC (n.*288_*290delinsAGC) c.747_749delinsAGC (n.747_749delinsAGC) c.722_724delinsAGC (p.Glu241=) c.611_613delinsAGC (p.Glu204=) c.488_490delinsAGC (p.Glu163=) n.747_749delinsAGC c.*165_*167delinsAGC (n.*165_*167delinsAGC) | |
3 | g.10149935G>A | CA041926 | VHL | c.*289G>A (n.*289G>A) c.748G>A (n.748G>A) c.723G>A (p.Glu241=) c.612G>A (p.Glu204=) c.489G>A (p.Glu163=) n.748G>A c.*166G>A (n.*166G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10149935G>C | CA351756649 | VHL | c.*289G>C (n.*289G>C) c.748G>C (n.748G>C) c.723G>C (p.Glu241Asp) c.612G>C (p.Glu204Asp) c.489G>C (p.Glu163Asp) n.748G>C c.*166G>C (n.*166G>C) | dbSNP gnomAD v4 |
3 | g.10149935G= | CA1345063016 | VHL | c.*289G= (n.*289G=) c.748G= (n.748G=) c.723G= (p.Glu241=) c.612G= (p.Glu204=) c.489G= (p.Glu163=) n.748G= c.*166G= (n.*166G=) | |
3 | g.10149935G>T | CA351756647 | VHL | c.*289G>T (n.*289G>T) c.748G>T (n.748G>T) c.723G>T (p.Glu241Asp) c.612G>T (p.Glu204Asp) c.489G>T (p.Glu163Asp) n.748G>T c.*166G>T (n.*166G>T) | COSMIC |
3 | g.10149937_10149938del | CA020525 | VHL | c.*291_*292del (n.*291_*292del) c.750_751del (n.750_751del) c.725_726del (p.Arg242HisfsTer?) c.614_615del (p.Arg205HisfsTer?) c.491_492del (p.Arg164HisfsTer?) n.750_751del c.*168_*169del (n.*168_*169del) | ClinVar dbSNP COSMIC |
3 | g.10149936C>A | CA351756652 | VHL | c.*290C>A (n.*290C>A) c.749C>A (n.749C>A) c.724C>A (p.Arg242Ser) c.613C>A (p.Arg205Ser) c.490C>A (p.Arg164Ser) n.749C>A c.*167C>A (n.*167C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10149936C= | CA1345063023 | VHL | c.*290C= (n.*290C=) c.749C= (n.749C=) c.724C= (p.Arg242=) c.613C= (p.Arg205=) c.490C= (p.Arg164=) n.749C= c.*167C= (n.*167C=) | |
3 | g.10149936C>G | CA351756654 | VHL | c.*290C>G (n.*290C>G) c.749C>G (n.749C>G) c.724C>G (p.Arg242Gly) c.613C>G (p.Arg205Gly) c.490C>G (p.Arg164Gly) n.749C>G c.*167C>G (n.*167C>G) | ClinVar dbSNP gnomAD v4 |
3 | g.10149936C>T | CA041940 | VHL | c.*290C>T (n.*290C>T) c.749C>T (n.749C>T) c.724C>T (p.Arg242Cys) c.613C>T (p.Arg205Cys) c.490C>T (p.Arg164Cys) n.749C>T c.*167C>T (n.*167C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.10149937G>A | CA041951 | VHL | c.*291G>A (n.*291G>A) c.750G>A (n.750G>A) c.725G>A (p.Arg242His) c.614G>A (p.Arg205His) c.491G>A (p.Arg164His) n.750G>A c.*168G>A (n.*168G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10149937G>C | CA351756659 | VHL | c.*291G>C (n.*291G>C) c.750G>C (n.750G>C) c.725G>C (p.Arg242Pro) c.614G>C (p.Arg205Pro) c.491G>C (p.Arg164Pro) n.750G>C c.*168G>C (n.*168G>C) | ClinVar dbSNP |
3 | g.10149937G= | CA1345063033 | VHL | c.*291G= (n.*291G=) c.750G= (n.750G=) c.725G= (p.Arg242=) c.614G= (p.Arg205=) c.491G= (p.Arg164=) n.750G= c.*168G= (n.*168G=) | |
3 | g.10149937G>T | CA351756661 | VHL | c.*291G>T (n.*291G>T) c.750G>T (n.750G>T) c.725G>T (p.Arg242Leu) c.614G>T (p.Arg205Leu) c.491G>T (p.Arg164Leu) n.750G>T c.*168G>T (n.*168G>T) | ClinVar dbSNP gnomAD v4 |
3 | g.10149938del | CA913189241 | VHL | c.*292del (n.*292del) c.751del (n.751del) c.726del (p.Ile243LeufsTer13) c.615del (p.Ile206LeufsTer13) c.492del (p.Ile165LeufsTer13) n.751del c.*169del (n.*169del) | |
3 | g.10149938C>A | CA432423918 | VHL | c.*292C>A (n.*292C>A) c.751C>A (n.751C>A) c.726C>A (p.Arg242=) c.615C>A (p.Arg205=) c.492C>A (p.Arg164=) n.751C>A c.*169C>A (n.*169C>A) | dbSNP |
3 | g.10149938C>G | CA432423920 | VHL | c.*292C>G (n.*292C>G) c.751C>G (n.751C>G) c.726C>G (p.Arg242=) c.615C>G (p.Arg205=) c.492C>G (p.Arg164=) n.751C>G c.*169C>G (n.*169C>G) | dbSNP |
3 | g.10149938C>T | CA432423921 | VHL | c.*292C>T (n.*292C>T) c.751C>T (n.751C>T) c.726C>T (p.Arg242=) c.615C>T (p.Arg205=) c.492C>T (p.Arg164=) n.751C>T c.*169C>T (n.*169C>T) | ClinVar dbSNP COSMIC |
3 | g.10149938delinsAA | CA645529586 | VHL | c.*292delinsAA (n.*292delinsAA) c.751delinsAA (n.751delinsAA) c.726delinsAA (p.Ile243AsnfsTer?) c.615delinsAA (p.Ile206AsnfsTer?) c.492delinsAA (p.Ile165AsnfsTer?) n.751delinsAA c.*169delinsAA (n.*169delinsAA) | COSMIC |
3 | g.10149939A>C | CA351756663 | VHL | c.*293A>C (n.*293A>C) c.752A>C (n.752A>C) c.727A>C (p.Ile243Leu) c.616A>C (p.Ile206Leu) c.493A>C (p.Ile165Leu) n.752A>C c.*170A>C (n.*170A>C) | dbSNP |
3 | g.10149939A>G | CA351756665 | VHL | c.*293A>G (n.*293A>G) c.752A>G (n.752A>G) c.727A>G (p.Ile243Val) c.616A>G (p.Ile206Val) c.493A>G (p.Ile165Val) n.752A>G c.*170A>G (n.*170A>G) | ClinVar dbSNP |
3 | g.10149939A>T | CA351756666 | VHL | c.*293A>T (n.*293A>T) c.752A>T (n.752A>T) c.727A>T (p.Ile243Phe) c.616A>T (p.Ile206Phe) c.493A>T (p.Ile165Phe) n.752A>T c.*170A>T (n.*170A>T) | dbSNP |
3 | g.10149939delinsGG | CA645529587 | VHL | c.*293delinsGG (n.*293delinsGG) c.752delinsGG (n.752delinsGG) c.727delinsGG (p.Ile243GlyfsTer?) c.616delinsGG (p.Ile206GlyfsTer?) c.493delinsGG (p.Ile165GlyfsTer?) n.752delinsGG c.*170delinsGG (n.*170delinsGG) | COSMIC |
3 | g.10149939dup | CA432423928 | VHL | c.*293dup (n.*293dup) c.752dup (n.752dup) c.727dup (p.Ile243AsnfsTer?) c.616dup (p.Ile206AsnfsTer?) c.493dup (p.Ile165AsnfsTer?) n.752dup c.*170dup (n.*170dup) | COSMIC |
3 | g.10149940T>A | CA351756670 | VHL | c.*294T>A (n.*294T>A) c.753T>A (n.753T>A) c.728T>A (p.Ile243Asn) c.617T>A (p.Ile206Asn) c.494T>A (p.Ile165Asn) n.753T>A c.*171T>A (n.*171T>A) | dbSNP |
3 | g.10149940T>C | CA351756672 | VHL | c.*294T>C (n.*294T>C) c.753T>C (n.753T>C) c.728T>C (p.Ile243Thr) c.617T>C (p.Ile206Thr) c.494T>C (p.Ile165Thr) n.753T>C c.*171T>C (n.*171T>C) | dbSNP |
3 | g.10149940T>G | CA351756673 | VHL | c.*294T>G (n.*294T>G) c.753T>G (n.753T>G) c.728T>G (p.Ile243Ser) c.617T>G (p.Ile206Ser) c.494T>G (p.Ile165Ser) n.753T>G c.*171T>G (n.*171T>G) | dbSNP |
3 | g.10149940_10149941delinsAG | CA16611072 | VHL | c.*294_*295delinsAG (n.*294_*295delinsAG) c.753_754delinsAG (n.753_754delinsAG) c.728_729delinsAG (p.Ile243Lys) c.617_618delinsAG (p.Ile206Lys) c.494_495delinsAG (p.Ile165Lys) n.753_754delinsAG c.*171_*172delinsAG (n.*171_*172delinsAG) | ClinVar dbSNP |
3 | g.10149940_10149941delinsTT | CA1345063043 | VHL | c.*294_*295delinsTT (n.*294_*295delinsTT) c.753_754delinsTT (n.753_754delinsTT) c.728_729delinsTT (p.Ile243=) c.617_618delinsTT (p.Ile206=) c.494_495delinsTT (p.Ile165=) n.753_754delinsTT c.*171_*172delinsTT (n.*171_*172delinsTT) | |
3 | g.10149941dup | CA645529588 | VHL | c.*295dup (n.*295dup) c.754dup (n.754dup) c.729dup (p.Ala244CysfsTer?) c.618dup (p.Ala207CysfsTer?) c.495dup (p.Ala166CysfsTer?) n.754dup c.*172dup (n.*172dup) | COSMIC COSMIC |
3 | g.10149941T>A | CA432423934 | VHL | c.*295T>A (n.*295T>A) c.754T>A (n.754T>A) c.729T>A (p.Ile243=) c.618T>A (p.Ile206=) c.495T>A (p.Ile165=) n.754T>A c.*172T>A (n.*172T>A) | dbSNP |
3 | g.10149941T>C | CA432423936 | VHL | c.*295T>C (n.*295T>C) c.754T>C (n.754T>C) c.729T>C (p.Ile243=) c.618T>C (p.Ile206=) c.495T>C (p.Ile165=) n.754T>C c.*172T>C (n.*172T>C) | ClinVar dbSNP |
3 | g.10149941T>G | CA351756674 | VHL | c.*295T>G (n.*295T>G) c.754T>G (n.754T>G) c.729T>G (p.Ile243Met) c.618T>G (p.Ile206Met) c.495T>G (p.Ile165Met) n.754T>G c.*172T>G (n.*172T>G) | dbSNP |
3 | g.10149941T= | CA1345063047 | VHL | c.*295T= (n.*295T=) c.754T= (n.754T=) c.729T= (p.Ile243=) c.618T= (p.Ile206=) c.495T= (p.Ile165=) n.754T= c.*172T= (n.*172T=) | |
3 | g.10149941_10149944del | CA645529589 | VHL | c.*295_*298del (n.*295_*298del) c.754_757del (n.754_757del) c.729_732del (p.Ala244IlefsTer11) c.618_621del (p.Ala207IlefsTer11) c.495_498del (p.Ala166IlefsTer11) n.754_757del c.*172_*175del (n.*172_*175del) | COSMIC |
3 | g.10149942G>A | CA351756677 | VHL | c.*296G>A (n.*296G>A) c.755G>A (n.755G>A) c.730G>A (p.Ala244Thr) c.619G>A (p.Ala207Thr) c.496G>A (p.Ala166Thr) n.755G>A c.*173G>A (n.*173G>A) | ClinVar dbSNP COSMIC |
3 | g.10149942G>C | CA351756676 | VHL | c.*296G>C (n.*296G>C) c.755G>C (n.755G>C) c.730G>C (p.Ala244Pro) c.619G>C (p.Ala207Pro) c.496G>C (p.Ala166Pro) n.755G>C c.*173G>C (n.*173G>C) | dbSNP |
3 | g.10149942G= | CA1345063052 | VHL | c.*296G= (n.*296G=) c.755G= (n.755G=) c.730G= (p.Ala244=) c.619G= (p.Ala207=) c.496G= (p.Ala166=) n.755G= c.*173G= (n.*173G=) | |
3 | g.10149942G>T | CA351756675 | VHL | c.*296G>T (n.*296G>T) c.755G>T (n.755G>T) c.730G>T (p.Ala244Ser) c.619G>T (p.Ala207Ser) c.496G>T (p.Ala166Ser) n.755G>T c.*173G>T (n.*173G>T) | |
3 | g.10149942_10149943delinsAA | CA2573136195 | VHL | c.*296_*297delinsAA (n.*296_*297delinsAA) c.755_756delinsAA (n.755_756delinsAA) c.730_731delinsAA (p.Ala244Lys) c.619_620delinsAA (p.Ala207Lys) c.496_497delinsAA (p.Ala166Lys) n.755_756delinsAA c.*173_*174delinsAA (n.*173_*174delinsAA) | ClinVar dbSNP |
3 | g.10149942_10149946del | CA645529590 | VHL | c.*296_*300del (n.*296_*300del) c.755_759del (n.755_759del) c.730_734del (p.Ala244SerfsTer?) c.619_623del (p.Ala207SerfsTer?) c.496_500del (p.Ala166SerfsTer?) n.755_759del c.*173_*177del (n.*173_*177del) | COSMIC |
3 | g.10149943_10149958dup | CA645529591 | VHL | c.*297_*312dup (n.*297_*312dup) c.756_771dup (n.756_771dup) c.731_746dup (p.Asp250ThrfsTer?) c.620_635dup (p.Asp213ThrfsTer?) c.497_512dup (p.Asp172ThrfsTer?) n.756_771dup c.*174_*189dup (n.*174_*189dup) | COSMIC |
3 | g.10149942_10149943insT | CA432423944 | VHL | c.*296_*297insT (n.*296_*297insT) c.755_756insT (n.755_756insT) c.730_731insT (p.Ala244ValfsTer?) c.619_620insT (p.Ala207ValfsTer?) c.496_497insT (p.Ala166ValfsTer?) n.755_756insT c.*173_*174insT (n.*173_*174insT) | |
3 | g.10149943C>A | CA351756678 | VHL | c.*297C>A (n.*297C>A) c.756C>A (n.756C>A) c.731C>A (p.Ala244Glu) c.620C>A (p.Ala207Glu) c.497C>A (p.Ala166Glu) n.756C>A c.*174C>A (n.*174C>A) | dbSNP |
3 | g.10149943C= | CA1345063058 | VHL | c.*297C= (n.*297C=) c.756C= (n.756C=) c.731C= (p.Ala244=) c.620C= (p.Ala207=) c.497C= (p.Ala166=) n.756C= c.*174C= (n.*174C=) | |
3 | g.10149943C>G | CA351756679 | VHL | c.*297C>G (n.*297C>G) c.756C>G (n.756C>G) c.731C>G (p.Ala244Gly) c.620C>G (p.Ala207Gly) c.497C>G (p.Ala166Gly) n.756C>G c.*174C>G (n.*174C>G) | dbSNP |
3 | g.10149943C>T | CA16611076 | VHL | c.*297C>T (n.*297C>T) c.756C>T (n.756C>T) c.731C>T (p.Ala244Val) c.620C>T (p.Ala207Val) c.497C>T (p.Ala166Val) n.756C>T c.*174C>T (n.*174C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.10149944A>C | CA432423949 | VHL | c.*298A>C (n.*298A>C) c.757A>C (n.757A>C) c.732A>C (p.Ala244=) c.621A>C (p.Ala207=) c.498A>C (p.Ala166=) n.757A>C c.*175A>C (n.*175A>C) | dbSNP |
3 | g.10149944A>G | CA432423951 | VHL | c.*298A>G (n.*298A>G) c.757A>G (n.757A>G) c.732A>G (p.Ala244=) c.621A>G (p.Ala207=) c.498A>G (p.Ala166=) n.757A>G c.*175A>G (n.*175A>G) | dbSNP |
3 | g.10149944A>T | CA432423953 | VHL | c.*298A>T (n.*298A>T) c.757A>T (n.757A>T) c.732A>T (p.Ala244=) c.621A>T (p.Ala207=) c.498A>T (p.Ala166=) n.757A>T c.*175A>T (n.*175A>T) | ClinVar dbSNP gnomAD v4 |
3 | g.10149945C>A | CA351756680 | VHL | c.*299C>A (n.*299C>A) c.758C>A (n.758C>A) c.733C>A (p.His245Asn) c.622C>A (p.His208Asn) c.499C>A (p.His167Asn) n.758C>A c.*176C>A (n.*176C>A) | COSMIC |
3 | g.10149945C= | CA1345063062 | VHL | c.*299C= (n.*299C=) c.758C= (n.758C=) c.733C= (p.His245=) c.622C= (p.His208=) c.499C= (p.His167=) n.758C= c.*176C= (n.*176C=) | |
3 | g.10149945C>G | CA351756681 | VHL | c.*299C>G (n.*299C>G) c.758C>G (n.758C>G) c.733C>G (p.His245Asp) c.622C>G (p.His208Asp) c.499C>G (p.His167Asp) n.758C>G c.*176C>G (n.*176C>G) | dbSNP |
3 | g.10149945C>T | CA041967 | VHL | c.*299C>T (n.*299C>T) c.758C>T (n.758C>T) c.733C>T (p.His245Tyr) c.622C>T (p.His208Tyr) c.499C>T (p.His167Tyr) n.758C>T c.*176C>T (n.*176C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10149946A= | CA1345063069 | VHL | c.*300A= (n.*300A=) c.759A= (n.759A=) c.734A= (p.His245=) c.623A= (p.His208=) c.500A= (p.His167=) n.759A= c.*177A= (n.*177A=) | |
3 | g.10149946A>C | CA351756682 | VHL | c.*300A>C (n.*300A>C) c.759A>C (n.759A>C) c.734A>C (p.His245Pro) c.623A>C (p.His208Pro) c.500A>C (p.His167Pro) n.759A>C c.*177A>C (n.*177A>C) | dbSNP |
3 | g.10149946A>G | CA351756683 | VHL | c.*300A>G (n.*300A>G) c.759A>G (n.759A>G) c.734A>G (p.His245Arg) c.623A>G (p.His208Arg) c.500A>G (p.His167Arg) n.759A>G c.*177A>G (n.*177A>G) | ClinVar dbSNP gnomAD v4 |
3 | g.10149946A>T | CA351756684 | VHL | c.*300A>T (n.*300A>T) c.759A>T (n.759A>T) c.734A>T (p.His245Leu) c.623A>T (p.His208Leu) c.500A>T (p.His167Leu) n.759A>T c.*177A>T (n.*177A>T) | dbSNP |
3 | g.10149946dup | CA645529592 | VHL | c.*300dup (n.*300dup) c.759dup (n.759dup) c.734dup (p.His245GlnfsTer?) c.623dup (p.His208GlnfsTer?) c.500dup (p.His167GlnfsTer?) n.759dup c.*177dup (n.*177dup) | COSMIC |
3 | g.10149948_10149955del | CA645529593 | VHL | c.*302_*309del (n.*302_*309del) c.761_768del (n.761_768del) c.736_743del (p.Gln246GlyfsTer?) c.625_632del (p.Gln209GlyfsTer?) c.502_509del (p.Gln168GlyfsTer?) n.761_768del c.*179_*186del (n.*179_*186del) | COSMIC |
3 | g.10149947T>A | CA351756685 | VHL | c.*301T>A (n.*301T>A) c.760T>A (n.760T>A) c.735T>A (p.His245Gln) c.624T>A (p.His208Gln) c.501T>A (p.His167Gln) n.760T>A c.*178T>A (n.*178T>A) | dbSNP |
3 | g.10149947T>C | CA432423964 | VHL | c.*301T>C (n.*301T>C) c.760T>C (n.760T>C) c.735T>C (p.His245=) c.624T>C (p.His208=) c.501T>C (p.His167=) n.760T>C c.*178T>C (n.*178T>C) | dbSNP |
3 | g.10149947T>G | CA351756686 | VHL | c.*301T>G (n.*301T>G) c.760T>G (n.760T>G) c.735T>G (p.His245Gln) c.624T>G (p.His208Gln) c.501T>G (p.His167Gln) n.760T>G c.*178T>G (n.*178T>G) | dbSNP |
3 | g.10149948C>A | CA351756689 | VHL | c.*302C>A (n.*302C>A) c.761C>A (n.761C>A) c.736C>A (p.Gln246Lys) c.625C>A (p.Gln209Lys) c.502C>A (p.Gln168Lys) n.761C>A c.*179C>A (n.*179C>A) | dbSNP |
3 | g.10149948C= | CA1345063071 | VHL | c.*302C= (n.*302C=) c.761C= (n.761C=) c.736C= (p.Gln246=) c.625C= (p.Gln209=) c.502C= (p.Gln168=) n.761C= c.*179C= (n.*179C=) | |
3 | g.10149948C>G | CA351756688 | VHL | c.*302C>G (n.*302C>G) c.761C>G (n.761C>G) c.736C>G (p.Gln246Glu) c.625C>G (p.Gln209Glu) c.502C>G (p.Gln168Glu) n.761C>G c.*179C>G (n.*179C>G) | ClinVar dbSNP gnomAD v4 |
3 | g.10149948C>T | CA351756687 | VHL | c.*302C>T (n.*302C>T) c.761C>T (n.761C>T) c.736C>T (p.Gln246Ter) c.625C>T (p.Gln209Ter) c.502C>T (p.Gln168Ter) n.761C>T c.*179C>T (n.*179C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.10149949A= | CA1345063080 | VHL | c.*303A= (n.*303A=) c.762A= (n.762A=) c.737A= (p.Gln246=) c.626A= (p.Gln209=) c.503A= (p.Gln168=) n.762A= c.*180A= (n.*180A=) | |
3 | g.10149949A>C | CA351756690 | VHL | c.*303A>C (n.*303A>C) c.762A>C (n.762A>C) c.737A>C (p.Gln246Pro) c.626A>C (p.Gln209Pro) c.503A>C (p.Gln168Pro) n.762A>C c.*180A>C (n.*180A>C) | |
3 | g.10149949A>G | CA351756691 | VHL | c.*303A>G (n.*303A>G) c.762A>G (n.762A>G) c.737A>G (p.Gln246Arg) c.626A>G (p.Gln209Arg) c.503A>G (p.Gln168Arg) n.762A>G c.*180A>G (n.*180A>G) | ClinVar dbSNP |
3 | g.10149949A>T | CA041981 | VHL | c.*303A>T (n.*303A>T) c.762A>T (n.762A>T) c.737A>T (p.Gln246Leu) c.626A>T (p.Gln209Leu) c.503A>T (p.Gln168Leu) n.762A>T c.*180A>T (n.*180A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10149950dup | CA432423975 | VHL | c.*304dup (n.*304dup) c.763dup (n.763dup) c.738dup (p.Arg247ThrfsTer?) c.627dup (p.Arg210ThrfsTer?) c.504dup (p.Arg169ThrfsTer?) n.763dup c.*181dup (n.*181dup) | COSMIC COSMIC |
3 | g.10149950A= | CA1345063084 | VHL | c.*304A= (n.*304A=) c.763A= (n.763A=) c.738A= (p.Gln246=) c.627A= (p.Gln209=) c.504A= (p.Gln168=) n.763A= c.*181A= (n.*181A=) | |
3 | g.10149950A>C | CA351756692 | VHL | c.*304A>C (n.*304A>C) c.763A>C (n.763A>C) c.738A>C (p.Gln246His) c.627A>C (p.Gln209His) c.504A>C (p.Gln168His) n.763A>C c.*181A>C (n.*181A>C) | dbSNP |
3 | g.10149950A>G | CA70052691 | VHL | c.*304A>G (n.*304A>G) c.763A>G (n.763A>G) c.738A>G (p.Gln246=) c.627A>G (p.Gln209=) c.504A>G (p.Gln168=) n.763A>G c.*181A>G (n.*181A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10149950A>T | CA351756693 | VHL | c.*304A>T (n.*304A>T) c.763A>T (n.763A>T) c.738A>T (p.Gln246His) c.627A>T (p.Gln209His) c.504A>T (p.Gln168His) n.763A>T c.*181A>T (n.*181A>T) | ClinVar dbSNP |
3 | g.10149951C>A | CA432423978 | VHL | c.*305C>A (n.*305C>A) c.764C>A (n.764C>A) c.739C>A (p.Arg247=) c.628C>A (p.Arg210=) c.505C>A (p.Arg169=) n.764C>A c.*182C>A (n.*182C>A) | dbSNP |
3 | g.10149951C= | CA1345063089 | VHL | c.*305C= (n.*305C=) c.764C= (n.764C=) c.739C= (p.Arg247=) c.628C= (p.Arg210=) c.505C= (p.Arg169=) n.764C= c.*182C= (n.*182C=) | |
3 | g.10149951C>G | CA351756694 | VHL | c.*305C>G (n.*305C>G) c.764C>G (n.764C>G) c.739C>G (p.Arg247Gly) c.628C>G (p.Arg210Gly) c.505C>G (p.Arg169Gly) n.764C>G c.*182C>G (n.*182C>G) | dbSNP |
3 | g.10149951C>T | CA041992 | VHL | c.*305C>T (n.*305C>T) c.764C>T (n.764C>T) c.739C>T (p.Arg247Trp) c.628C>T (p.Arg210Trp) c.505C>T (p.Arg169Trp) n.764C>T c.*182C>T (n.*182C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10149951_10149955del | CA645529594 | VHL | c.*305_*309del (n.*305_*309del) c.764_768del (n.764_768del) c.739_743del (p.Arg247GlyfsTer?) c.628_632del (p.Arg210GlyfsTer?) c.505_509del (p.Arg169GlyfsTer?) n.764_768del c.*182_*186del (n.*182_*186del) | COSMIC |
3 | g.10149951_10149952insA | CA432423990 | VHL | c.*305_*306insA (n.*305_*306insA) c.764_765insA (n.764_765insA) c.739_740insA (p.Arg247GlnfsTer?) c.628_629insA (p.Arg210GlnfsTer?) c.505_506insA (p.Arg169GlnfsTer?) n.764_765insA c.*182_*183insA (n.*182_*183insA) | |
3 | g.10149952G>A | CA020530 | VHL | c.*306G>A (n.*306G>A) c.765G>A (n.765G>A) c.740G>A (p.Arg247Gln) c.629G>A (p.Arg210Gln) c.506G>A (p.Arg169Gln) n.765G>A c.*183G>A (n.*183G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10149952G>C | CA351756695 | VHL | c.*306G>C (n.*306G>C) c.765G>C (n.765G>C) c.740G>C (p.Arg247Pro) c.629G>C (p.Arg210Pro) c.506G>C (p.Arg169Pro) n.765G>C c.*183G>C (n.*183G>C) | |
3 | g.10149952G= | CA1345063095 | VHL | c.*306G= (n.*306G=) c.765G= (n.765G=) c.740G= (p.Arg247=) c.629G= (p.Arg210=) c.506G= (p.Arg169=) n.765G= c.*183G= (n.*183G=) | |
3 | g.10149952G>T | CA351756696 | VHL | c.*306G>T (n.*306G>T) c.765G>T (n.765G>T) c.740G>T (p.Arg247Leu) c.629G>T (p.Arg210Leu) c.506G>T (p.Arg169Leu) n.765G>T c.*183G>T (n.*183G>T) | |
3 | g.10149952_10149953del | CA645529595 | VHL | c.*306_*307del (n.*306_*307del) c.765_766del (n.765_766del) c.740_741del (p.Arg247HisfsTer?) c.629_630del (p.Arg210HisfsTer?) c.506_507del (p.Arg169HisfsTer?) n.765_766del c.*183_*184del (n.*183_*184del) | COSMIC |
3 | g.10149953del | CA2573136196 | VHL | c.*307del (n.*307del) c.766del (n.766del) c.741del (p.Met248TrpfsTer8) c.630del (p.Met211TrpfsTer8) c.507del (p.Met170TrpfsTer8) n.766del c.*184del (n.*184del) | ClinVar dbSNP |
3 | g.10149953G>A | CA432423994 | VHL | c.*307G>A (n.*307G>A) c.766G>A (n.766G>A) c.741G>A (p.Arg247=) c.630G>A (p.Arg210=) c.507G>A (p.Arg169=) n.766G>A c.*184G>A (n.*184G>A) | ClinVar dbSNP COSMIC |
3 | g.10149953G>C | CA432423996 | VHL | c.*307G>C (n.*307G>C) c.766G>C (n.766G>C) c.741G>C (p.Arg247=) c.630G>C (p.Arg210=) c.507G>C (p.Arg169=) n.766G>C c.*184G>C (n.*184G>C) | dbSNP |
3 | g.10149953G= | CA1345063101 | VHL | c.*307G= (n.*307G=) c.766G= (n.766G=) c.741G= (p.Arg247=) c.630G= (p.Arg210=) c.507G= (p.Arg169=) n.766G= c.*184G= (n.*184G=) | |
3 | g.10149953G>T | CA432423998 | VHL | c.*307G>T (n.*307G>T) c.766G>T (n.766G>T) c.741G>T (p.Arg247=) c.630G>T (p.Arg210=) c.507G>T (p.Arg169=) n.766G>T c.*184G>T (n.*184G>T) | dbSNP |
3 | g.10149954A= | CA1345063110 | VHL | c.*308A= (n.*308A=) c.767A= (n.767A=) c.742A= (p.Met248=) c.631A= (p.Met211=) c.508A= (p.Met170=) n.767A= c.*185A= (n.*185A=) | |
3 | g.10149954A>C | CA020534 | VHL | c.*308A>C (n.*308A>C) c.767A>C (n.767A>C) c.742A>C (p.Met248Leu) c.631A>C (p.Met211Leu) c.508A>C (p.Met170Leu) n.767A>C c.*185A>C (n.*185A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10149954A>G | CA16621990 | VHL | c.*308A>G (n.*308A>G) c.767A>G (n.767A>G) c.742A>G (p.Met248Val) c.631A>G (p.Met211Val) c.508A>G (p.Met170Val) n.767A>G c.*185A>G (n.*185A>G) | dbSNP |
3 | g.10149954A>T | CA351756697 | VHL | c.*308A>T (n.*308A>T) c.767A>T (n.767A>T) c.742A>T (p.Met248Leu) c.631A>T (p.Met211Leu) c.508A>T (p.Met170Leu) n.767A>T c.*185A>T (n.*185A>T) | ClinVar dbSNP |
3 | g.10149955T>A | CA351756698 | VHL | c.*309T>A (n.*309T>A) c.768T>A (n.768T>A) c.743T>A (p.Met248Lys) c.632T>A (p.Met211Lys) c.509T>A (p.Met170Lys) n.768T>A c.*186T>A (n.*186T>A) | |
3 | g.10149955T>C | CA351756699 | VHL | c.*309T>C (n.*309T>C) c.768T>C (n.768T>C) c.743T>C (p.Met248Thr) c.632T>C (p.Met211Thr) c.509T>C (p.Met170Thr) n.768T>C c.*186T>C (n.*186T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10149955T>G | CA351756700 | VHL | c.*309T>G (n.*309T>G) c.768T>G (n.768T>G) c.743T>G (p.Met248Arg) c.632T>G (p.Met211Arg) c.509T>G (p.Met170Arg) n.768T>G c.*186T>G (n.*186T>G) | gnomAD v4 |
3 | g.10149955T= | CA1345063115 | VHL | c.*309T= (n.*309T=) c.768T= (n.768T=) c.743T= (p.Met248=) c.632T= (p.Met211=) c.509T= (p.Met170=) n.768T= c.*186T= (n.*186T=) | |
3 | g.10149956G>A | CA351756701 | VHL | c.*310G>A (n.*310G>A) c.769G>A (n.769G>A) c.744G>A (p.Met248Ile) c.633G>A (p.Met211Ile) c.510G>A (p.Met170Ile) n.769G>A c.*187G>A (n.*187G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10149956G>C | CA351756702 | VHL | c.*310G>C (n.*310G>C) c.769G>C (n.769G>C) c.744G>C (p.Met248Ile) c.633G>C (p.Met211Ile) c.510G>C (p.Met170Ile) n.769G>C c.*187G>C (n.*187G>C) | dbSNP |
3 | g.10149956G>T | CA351756703 | VHL | c.*310G>T (n.*310G>T) c.769G>T (n.769G>T) c.744G>T (p.Met248Ile) c.633G>T (p.Met211Ile) c.510G>T (p.Met170Ile) n.769G>T c.*187G>T (n.*187G>T) | |
3 | g.10149957_10149958del | CA645529596 | VHL | c.*311_*312del (n.*311_*312del) c.770_771del (n.770_771del) c.745_746del (p.Gly249ArgfsTer?) c.634_635del (p.Gly212ArgfsTer?) c.511_512del (p.Gly171ArgfsTer?) n.770_771del c.*188_*189del (n.*188_*189del) | COSMIC |
3 | g.10149957G>A | CA351756704 | VHL | c.*311G>A (n.*311G>A) c.770G>A (n.770G>A) c.745G>A (p.Gly249Arg) c.634G>A (p.Gly212Arg) c.511G>A (p.Gly171Arg) n.770G>A c.*188G>A (n.*188G>A) | ClinVar dbSNP |
3 | g.10149957G>C | CA351756705 | VHL | c.*311G>C (n.*311G>C) c.770G>C (n.770G>C) c.745G>C (p.Gly249Arg) c.634G>C (p.Gly212Arg) c.511G>C (p.Gly171Arg) n.770G>C c.*188G>C (n.*188G>C) | dbSNP |
3 | g.10149957G= | CA1345063120 | VHL | c.*311G= (n.*311G=) c.770G= (n.770G=) c.745G= (p.Gly249=) c.634G= (p.Gly212=) c.511G= (p.Gly171=) n.770G= c.*188G= (n.*188G=) | |
3 | g.10149957G>T | CA351756706 | VHL | c.*311G>T (n.*311G>T) c.770G>T (n.770G>T) c.745G>T (p.Gly249Ter) c.634G>T (p.Gly212Ter) c.511G>T (p.Gly171Ter) n.770G>T c.*188G>T (n.*188G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.10149958G>A | CA351756707 | VHL | c.*312G>A (n.*312G>A) c.771G>A (n.771G>A) c.746G>A (p.Gly249Glu) c.635G>A (p.Gly212Glu) c.512G>A (p.Gly171Glu) n.771G>A c.*189G>A (n.*189G>A) | dbSNP COSMIC |
3 | g.10149958G>C | CA351756708 | VHL | c.*312G>C (n.*312G>C) c.771G>C (n.771G>C) c.746G>C (p.Gly249Ala) c.635G>C (p.Gly212Ala) c.512G>C (p.Gly171Ala) n.771G>C c.*189G>C (n.*189G>C) | dbSNP |
3 | g.10149958G>T | CA351756709 | VHL | c.*312G>T (n.*312G>T) c.771G>T (n.771G>T) c.746G>T (p.Gly249Val) c.635G>T (p.Gly212Val) c.512G>T (p.Gly171Val) n.771G>T c.*189G>T (n.*189G>T) | dbSNP gnomAD v4 |
3 | g.10149959A= | CA1345063127 | VHL | c.*313A= (n.*313A=) c.772A= (n.772A=) c.747A= (p.Gly249=) c.636A= (p.Gly212=) c.513A= (p.Gly171=) n.772A= c.*190A= (n.*190A=) | |
3 | g.10149959A>C | CA432424017 | VHL | c.*313A>C (n.*313A>C) c.772A>C (n.772A>C) c.747A>C (p.Gly249=) c.636A>C (p.Gly212=) c.513A>C (p.Gly171=) n.772A>C c.*190A>C (n.*190A>C) | |
3 | g.10149959A>G | CA432424019 | VHL | c.*313A>G (n.*313A>G) c.772A>G (n.772A>G) c.747A>G (p.Gly249=) c.636A>G (p.Gly212=) c.513A>G (p.Gly171=) n.772A>G c.*190A>G (n.*190A>G) | dbSNP |
3 | g.10149959A>T | CA432424020 | VHL | c.*313A>T (n.*313A>T) c.772A>T (n.772A>T) c.747A>T (p.Gly249=) c.636A>T (p.Gly212=) c.513A>T (p.Gly171=) n.772A>T c.*190A>T (n.*190A>T) | ClinVar dbSNP |
3 | g.10149960G>A | CA351756712 | VHL | c.*314G>A (n.*314G>A) c.773G>A (n.773G>A) c.748G>A (p.Asp250Asn) c.637G>A (p.Asp213Asn) c.514G>A (p.Asp172Asn) n.773G>A c.*191G>A (n.*191G>A) | dbSNP |
3 | g.10149960G>C | CA351756711 | VHL | c.*314G>C (n.*314G>C) c.773G>C (n.773G>C) c.748G>C (p.Asp250His) c.637G>C (p.Asp213His) c.514G>C (p.Asp172His) n.773G>C c.*191G>C (n.*191G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10149960G= | CA1345063131 | VHL | c.*314G= (n.*314G=) c.773G= (n.773G=) c.748G= (p.Asp250=) c.637G= (p.Asp213=) c.514G= (p.Asp172=) n.773G= c.*191G= (n.*191G=) | |
3 | g.10149960G>T | CA351756710 | VHL | c.*314G>T (n.*314G>T) c.773G>T (n.773G>T) c.748G>T (p.Asp250Tyr) c.637G>T (p.Asp213Tyr) c.514G>T (p.Asp172Tyr) n.773G>T c.*191G>T (n.*191G>T) | dbSNP |
3 | g.10149960dup | CA432424025 | VHL | c.*314dup (n.*314dup) c.773dup (n.773dup) c.748dup (p.Asp250GlyfsTer?) c.637dup (p.Asp213GlyfsTer?) c.514dup (p.Asp172GlyfsTer?) n.773dup c.*191dup (n.*191dup) | COSMIC |
3 | g.10149962_10149965dup | CA1345063130 | VHL | c.*316_*319dup (n.*316_*319dup) c.775_778dup (n.775_778dup) c.750_753dup (n.750_753dup) c.639_642dup (n.639_642dup) c.516_519dup (n.516_519dup) n.775_778dup c.*193_*196dup (n.*193_*196dup) | ClinVar dbSNP |