ClinVar Miner

List of variants in gene CCBE1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 506
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HGVS dbSNP gnomAD frequency
NM_133459.4(CCBE1):c.401-29T>C rs4940876 0.95824
NM_133459.4(CCBE1):c.*3805T>C rs4940462 0.82960
NM_133459.4(CCBE1):c.*4749C>T rs1048006 0.82939
NM_133459.4(CCBE1):c.*4398C>A rs6567083 0.82900
NM_133459.4(CCBE1):c.952-260T>C rs4940874 0.82518
NM_133459.4(CCBE1):c.*2372C>T rs9959080 0.82464
NM_133459.4(CCBE1):c.*2242T>C rs9948686 0.82319
NM_133459.4(CCBE1):c.*4796G>A rs1048008 0.81742
NM_133459.4(CCBE1):c.*4945C>A rs1129748 0.78704
NM_133459.4(CCBE1):c.265+204C>T rs1789475 0.66570
NM_133459.4(CCBE1):c.265+67C>T rs1663548 0.66558
NM_133459.4(CCBE1):c.265+28G>C rs1790508 0.65649
NM_133459.4(CCBE1):c.553+249A>G rs8082772 0.62894
NM_133459.4(CCBE1):c.775+12A>G rs1893788 0.59779
NM_133459.4(CCBE1):c.*2361G>A rs9959752 0.52467
NM_133459.4(CCBE1):c.951+314C>T rs11152147 0.52070
NM_133459.4(CCBE1):c.266-30T>C rs632899 0.44900
NM_133459.4(CCBE1):c.266-104C>T rs650033 0.43621
NM_133459.4(CCBE1):c.266-63G>T rs663452 0.42927
NM_133459.4(CCBE1):c.266-156C>T rs643602 0.42908
NM_133459.4(CCBE1):c.132-148C>G rs3114280 0.39576
NM_133459.4(CCBE1):c.*4504G>C rs7230906 0.38762
NM_133459.4(CCBE1):c.*2730A>G rs1975499 0.38748
NM_133459.4(CCBE1):c.776-164G>A rs11152148 0.38292
NC_000018.10:g.59697734C>T rs1791320 0.37370
NC_000018.10:g.59697596C>T rs2195534 0.36168
NM_133459.4(CCBE1):c.401-174G>T rs600795 0.33159
NM_133459.4(CCBE1):c.553+109A>T rs8083041 0.32825
NM_133459.4(CCBE1):c.265+26C>A rs1663549 0.28435
NM_133459.4(CCBE1):c.*814T>G rs9954602 0.27783
NM_133459.4(CCBE1):c.655-155A>T rs749999 0.27587
NM_133459.4(CCBE1):c.655-229T>C rs750000 0.27585
NM_133459.4(CCBE1):c.775+171C>T rs3809991 0.27434
NM_133459.4(CCBE1):c.401-225G>C rs617924 0.24575
NM_133459.4(CCBE1):c.553+301A>T rs8082747 0.24453
NM_133459.4(CCBE1):c.*3780A>T rs12957684 0.23405
NM_133459.4(CCBE1):c.988-179C>T rs7228077 0.19699
NM_133459.4(CCBE1):c.400+165A>G rs895010 0.19617
NM_133459.4(CCBE1):c.*2020C>T rs113599524 0.15943
NM_133459.4(CCBE1):c.655-197C>T rs75346177 0.13679
NM_133459.4(CCBE1):c.654+214A>G rs17697258 0.08798
NM_133459.4(CCBE1):c.213-209G>T rs12457023 0.05204
NM_133459.4(CCBE1):c.*4788T>C rs77728352 0.04498
NM_133459.4(CCBE1):c.212+233A>G rs2288597 0.04244
NM_133459.4(CCBE1):c.132-232C>A rs1864305 0.03623
NM_133459.4(CCBE1):c.*2951_*2952insC rs33911880 0.02939
NM_133459.4(CCBE1):c.*3162T>C rs78990130 0.02874
NM_133459.4(CCBE1):c.*2825A>G rs116611266 0.02587
NM_133459.4(CCBE1):c.988-10A>G rs115490148 0.02376
NM_133459.4(CCBE1):c.*2673G>A rs115205666 0.02212
NM_133459.4(CCBE1):c.266-45C>T rs79596673 0.02095
NM_133459.4(CCBE1):c.123C>A (p.Asp41Glu) rs80008675 0.01868
NM_133459.4(CCBE1):c.*1040C>T rs78905013 0.01557
NM_133459.4(CCBE1):c.*2758C>T rs114107592 0.01425
NM_133459.4(CCBE1):c.*3036C>G rs75031007 0.01254
NM_133459.4(CCBE1):c.837C>T (p.Pro279=) rs61745250 0.01198
NM_133459.4(CCBE1):c.*1697G>C rs59131196 0.01117
NM_133459.4(CCBE1):c.*2833C>A rs73450357 0.01086
NM_133459.4(CCBE1):c.*14C>T rs72958116 0.00900
NM_133459.4(CCBE1):c.*2978T>A rs117999156 0.00814
NM_133459.4(CCBE1):c.*1992A>T rs61687734 0.00581
NM_133459.4(CCBE1):c.*3533C>A rs112059725 0.00563
NM_133459.4(CCBE1):c.*154G>A rs73963210 0.00515
NM_133459.4(CCBE1):c.*2460T>C rs76216795 0.00485
NM_133459.4(CCBE1):c.195G>A (p.Glu65=) rs116673304 0.00475
NM_133459.4(CCBE1):c.*1969A>G rs144921615 0.00467
NM_133459.4(CCBE1):c.*3777A>T rs184237348 0.00413
NM_133459.4(CCBE1):c.*337T>G rs80296667 0.00389
NM_133459.4(CCBE1):c.*1434C>G rs144479124 0.00377
NM_133459.4(CCBE1):c.*2158C>T rs376015917 0.00376
NM_133459.4(CCBE1):c.*3182T>G rs8084216 0.00371
NM_133459.4(CCBE1):c.*4934G>T rs145940035 0.00353
NM_133459.4(CCBE1):c.*378G>A rs141921214 0.00289
NM_133459.4(CCBE1):c.*4173A>G rs150040471 0.00289
NM_133459.4(CCBE1):c.*3140G>T rs189149568 0.00249
NM_133459.4(CCBE1):c.*4498T>C rs146222689 0.00247
NM_133459.4(CCBE1):c.*2178C>T rs535062443 0.00239
NM_133459.4(CCBE1):c.*203A>G rs529266103 0.00226
NM_133459.4(CCBE1):c.*3080A>G rs147056520 0.00225
NM_133459.4(CCBE1):c.*2080C>T rs181336531 0.00222
NM_133459.4(CCBE1):c.*2297_*2298insT rs886054053 0.00211
NM_133459.4(CCBE1):c.*2728A>G rs150355335 0.00163
NM_133459.4(CCBE1):c.*1463del rs763605982 0.00156
NM_133459.4(CCBE1):c.*4799G>A rs187448235 0.00137
NM_133459.4(CCBE1):c.*4846G>A rs141622451 0.00130
NM_133459.4(CCBE1):c.1064A>C (p.Lys355Thr) rs139059968 0.00127
NM_133459.4(CCBE1):c.*1021T>A rs573115978 0.00113
NM_133459.4(CCBE1):c.431C>T (p.Thr144Met) rs147974432 0.00096
NM_133459.4(CCBE1):c.*3931G>A rs187148297 0.00091
NM_133459.4(CCBE1):c.553+17T>A rs373086776 0.00087
NM_133459.4(CCBE1):c.499C>T (p.Arg167Trp) rs116675104 0.00064
NM_133459.4(CCBE1):c.*3710A>G rs371219962 0.00061
NM_133459.4(CCBE1):c.101C>A (p.Thr34Asn) rs191999971 0.00058
NM_133459.4(CCBE1):c.*4773C>G rs192810490 0.00057
NM_133459.4(CCBE1):c.-27G>T rs767364494 0.00055
NM_133459.4(CCBE1):c.519A>G (p.Thr173=) rs141327514 0.00055
NM_133459.4(CCBE1):c.354A>G (p.Arg118=) rs116239086 0.00053
NM_133459.4(CCBE1):c.776-19A>T rs374642289 0.00053
NM_133459.4(CCBE1):c.265+8A>C rs181010692 0.00052
NM_133459.4(CCBE1):c.*942C>T rs148435558 0.00051
NM_133459.4(CCBE1):c.380G>A (p.Arg127Gln) rs141638717 0.00051
NM_133459.4(CCBE1):c.*3430T>C rs1360147097 0.00044
NM_133459.4(CCBE1):c.*2903G>C rs181044048 0.00039
NM_133459.4(CCBE1):c.869C>T (p.Pro290Leu) rs147681552 0.00038
NM_133459.4(CCBE1):c.902G>A (p.Arg301Gln) rs200772179 0.00038
NM_133459.4(CCBE1):c.*3893C>T rs192002000 0.00036
NM_133459.4(CCBE1):c.*4818G>A rs531452846 0.00036
NM_133459.4(CCBE1):c.557A>G (p.His186Arg) rs115071386 0.00036
NM_133459.4(CCBE1):c.*2340T>C rs528130337 0.00035
NM_133459.4(CCBE1):c.156C>T (p.Ile52=) rs2288598 0.00035
NM_133459.4(CCBE1):c.*835T>A rs542982078 0.00034
NM_133459.4(CCBE1):c.*836C>T rs575906287 0.00034
NM_133459.4(CCBE1):c.*1347C>T rs182559343 0.00032
NM_133459.4(CCBE1):c.*2373C>T rs530647353 0.00031
NM_133459.4(CCBE1):c.212+16C>T rs371303348 0.00028
NM_133459.4(CCBE1):c.*4715T>G rs570883624 0.00025
NM_133459.4(CCBE1):c.*4940A>T rs374031151 0.00025
NM_133459.4(CCBE1):c.966G>A (p.Ala322=) rs144169027 0.00024
NM_133459.4(CCBE1):c.*20G>A rs372843233 0.00021
NM_133459.4(CCBE1):c.*2299T>A rs886054052 0.00021
NM_133459.4(CCBE1):c.654+10G>A rs199573616 0.00020
NM_133459.4(CCBE1):c.810C>T (p.Pro270=) rs151243930 0.00020
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_133459.4(CCBE1):c.*3862G>A rs368332997 0.00016
NM_133459.4(CCBE1):c.*70A>G rs771950874 0.00016
NM_133459.4(CCBE1):c.477C>T (p.Cys159=) rs149268172 0.00016
NM_133459.4(CCBE1):c.259C>T (p.Pro87Ser) rs148498685 0.00015
NM_133459.4(CCBE1):c.*4375T>C rs776172092 0.00014
NM_133459.4(CCBE1):c.485G>A (p.Arg162Gln) rs138986040 0.00013
NM_133459.4(CCBE1):c.843A>T (p.Pro281=) rs191592668 0.00013
NM_133459.4(CCBE1):c.*1942T>C rs138525348 0.00012
NM_133459.4(CCBE1):c.*3788T>A rs886054042 0.00012
NM_133459.4(CCBE1):c.373C>T (p.Arg125Trp) rs147208835 0.00012
NM_133459.4(CCBE1):c.586G>A (p.Gly196Arg) rs189700794 0.00012
NM_133459.4(CCBE1):c.654+13G>C rs769543293 0.00012
NM_133459.4(CCBE1):c.*2771A>G rs886054050 0.00011
NM_133459.4(CCBE1):c.273C>T (p.Asp91=) rs369006324 0.00011
NM_133459.4(CCBE1):c.41G>T (p.Gly14Val) rs753016701 0.00011
NM_133459.4(CCBE1):c.445A>G (p.Ile149Val) rs202039064 0.00011
NM_133459.4(CCBE1):c.*1628T>A rs886054065 0.00010
NM_133459.4(CCBE1):c.*803C>G rs755405287 0.00010
NM_133459.4(CCBE1):c.361C>T (p.Arg121Trp) rs138933353 0.00010
NM_133459.4(CCBE1):c.*2411C>T rs930821759 0.00009
NM_133459.4(CCBE1):c.*2953C>A rs79828144 0.00009
NM_133459.4(CCBE1):c.671A>G (p.Asn224Ser) rs369736447 0.00009
NM_133459.4(CCBE1):c.*2023G>C rs540232421 0.00008
NM_133459.4(CCBE1):c.*2787T>C rs538634534 0.00008
NM_133459.4(CCBE1):c.*3922T>A rs939031016 0.00008
NM_133459.4(CCBE1):c.171C>T (p.Tyr57=) rs375674582 0.00008
NM_133459.4(CCBE1):c.484C>T (p.Arg162Trp) rs562613006 0.00008
NM_133459.4(CCBE1):c.901C>T (p.Arg301Trp) rs375717418 0.00008
NM_133459.4(CCBE1):c.*1655T>A rs187649543 0.00007
NM_133459.4(CCBE1):c.131+10G>A rs755608387 0.00007
NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser) rs121908250 0.00007
NM_133459.4(CCBE1):c.683_684insT (p.Leu229fs) rs563023244 0.00007
NM_133459.4(CCBE1):c.*126G>A rs762712892 0.00006
NM_133459.4(CCBE1):c.*1421C>A rs770614078 0.00006
NM_133459.4(CCBE1):c.*19C>T rs376780422 0.00006
NM_133459.4(CCBE1):c.*2143G>A rs557473811 0.00006
NM_133459.4(CCBE1):c.*3809C>T rs1008249593 0.00006
NM_133459.4(CCBE1):c.*4180A>G rs556156318 0.00006
NM_133459.4(CCBE1):c.132-20T>C rs368826749 0.00006
NM_133459.4(CCBE1):c.310G>A (p.Asp104Asn) rs139165727 0.00006
NM_133459.4(CCBE1):c.344C>T (p.Pro115Leu) rs147402390 0.00006
NM_133459.4(CCBE1):c.362G>A (p.Arg121Gln) rs779213116 0.00006
NM_133459.4(CCBE1):c.432G>T (p.Thr144=) rs766221977 0.00006
NM_133459.4(CCBE1):c.655-7C>T rs373230073 0.00006
NM_133459.4(CCBE1):c.845G>A (p.Arg282Gln) rs140813794 0.00006
NM_133459.4(CCBE1):c.*182C>A rs1023099526 0.00005
NM_133459.4(CCBE1):c.*2901T>A rs151072136 0.00005
NM_133459.4(CCBE1):c.1212C>T (p.Phe404=) rs763112456 0.00005
NM_133459.4(CCBE1):c.129C>T (p.Asp43=) rs772767605 0.00005
NM_133459.4(CCBE1):c.287C>G (p.Ala96Gly) rs149792489 0.00005
NM_133459.4(CCBE1):c.356A>T (p.Tyr119Phe) rs772786164 0.00005
NM_133459.4(CCBE1):c.379C>T (p.Arg127Trp) rs368235813 0.00005
NM_133459.4(CCBE1):c.473G>A (p.Arg158His) rs548209010 0.00005
NM_133459.4(CCBE1):c.*1346G>A rs370722132 0.00004
NM_133459.4(CCBE1):c.*1771G>A rs886054063 0.00004
NM_133459.4(CCBE1):c.*2810A>G rs886054049 0.00004
NM_133459.4(CCBE1):c.*3703G>A rs886054044 0.00004
NM_133459.4(CCBE1):c.*4710G>A rs1337715213 0.00004
NM_133459.4(CCBE1):c.*504T>C rs1164954310 0.00004
NM_133459.4(CCBE1):c.-30G>C rs777317997 0.00004
NM_133459.4(CCBE1):c.1003T>C (p.Phe335Leu) rs200656869 0.00004
NM_133459.4(CCBE1):c.1005C>T (p.Phe335=) rs568146941 0.00004
NM_133459.4(CCBE1):c.1172G>A (p.Arg391Lys) rs150717489 0.00004
NM_133459.4(CCBE1):c.118G>A (p.Glu40Lys) rs1258286870 0.00004
NM_133459.4(CCBE1):c.204A>G (p.Thr68=) rs762304720 0.00004
NM_133459.4(CCBE1):c.500G>A (p.Arg167Gln) rs368065685 0.00004
NM_133459.4(CCBE1):c.853A>G (p.Met285Val) rs766239392 0.00004
NM_133459.4(CCBE1):c.905G>A (p.Arg302Lys) rs144421610 0.00004
NM_133459.4(CCBE1):c.916-2A>G rs367990953 0.00004
NM_133459.4(CCBE1):c.*1257T>C rs967571265 0.00003
NM_133459.4(CCBE1):c.*2017G>A rs886054058 0.00003
NM_133459.4(CCBE1):c.*2058G>A rs886054055 0.00003
NM_133459.4(CCBE1):c.*2389C>G rs911000731 0.00003
NM_133459.4(CCBE1):c.*3143T>C rs886054047 0.00003
NM_133459.4(CCBE1):c.*3257A>G rs548992924 0.00003
NM_133459.4(CCBE1):c.*3623A>C rs886054046 0.00003
NM_133459.4(CCBE1):c.*4246C>G rs886054040 0.00003
NM_133459.4(CCBE1):c.1036C>T (p.Arg346Cys) rs761881641 0.00003
NM_133459.4(CCBE1):c.1040A>G (p.Asn347Ser) rs1372736370 0.00003
NM_133459.4(CCBE1):c.1041T>C (p.Asn347=) rs748817654 0.00003
NM_133459.4(CCBE1):c.1071C>T (p.Phe357=) rs751850918 0.00003
NM_133459.4(CCBE1):c.1072G>A (p.Gly358Arg) rs755276492 0.00003
NM_133459.4(CCBE1):c.401-17C>T rs1380525573 0.00003
NM_133459.4(CCBE1):c.602C>T (p.Thr201Ile) rs755893600 0.00003
NM_133459.4(CCBE1):c.84G>T (p.Ala28=) rs964303785 0.00003
NM_133459.4(CCBE1):c.929C>T (p.Ala310Val) rs140470196 0.00003
NM_133459.4(CCBE1):c.951+17G>T rs756987434 0.00003
NM_133459.4(CCBE1):c.*1190C>T rs550948127 0.00002
NM_133459.4(CCBE1):c.*1401G>C rs563683232 0.00002
NM_133459.4(CCBE1):c.*3800G>A rs1296262836 0.00002
NM_133459.4(CCBE1):c.*610G>A rs551011131 0.00002
NM_133459.4(CCBE1):c.1047C>T (p.Ile349=) rs779502589 0.00002
NM_133459.4(CCBE1):c.189A>G (p.Ser63=) rs141422782 0.00002
NM_133459.4(CCBE1):c.271G>A (p.Asp91Asn) rs750584132 0.00002
NM_133459.4(CCBE1):c.33T>A (p.Ala11=) rs775045988 0.00002
NM_133459.4(CCBE1):c.342T>C (p.Tyr114=) rs114504060 0.00002
NM_133459.4(CCBE1):c.520T>C (p.Cys174Arg) rs121908254 0.00002
NM_133459.4(CCBE1):c.537A>G (p.Lys179=) rs376156676 0.00002
NM_133459.4(CCBE1):c.543C>T (p.Pro181=) rs1052383328 0.00002
NM_133459.4(CCBE1):c.552T>C (p.Thr184=) rs771507895 0.00002
NM_133459.4(CCBE1):c.664C>T (p.Leu222Phe) rs770685560 0.00002
NM_133459.4(CCBE1):c.776-11T>C rs772791173 0.00002
NM_133459.4(CCBE1):c.*160A>G rs770290457 0.00001
NM_133459.4(CCBE1):c.*194A>G rs886054073 0.00001
NM_133459.4(CCBE1):c.*2912G>T rs559362654 0.00001
NM_133459.4(CCBE1):c.*3147T>C rs1473839692 0.00001
NM_133459.4(CCBE1):c.*3801G>A rs1909965307 0.00001
NM_133459.4(CCBE1):c.*4738G>A rs1004161493 0.00001
NM_133459.4(CCBE1):c.*4755A>C rs938648058 0.00001
NM_133459.4(CCBE1):c.*4877C>G rs139842926 0.00001
NM_133459.4(CCBE1):c.*616A>G rs532612240 0.00001
NM_133459.4(CCBE1):c.*752T>C rs886054068 0.00001
NM_133459.4(CCBE1):c.1017A>G (p.Leu339=) rs765502530 0.00001
NM_133459.4(CCBE1):c.108A>G (p.Arg36=) rs1254568069 0.00001
NM_133459.4(CCBE1):c.1142T>C (p.Met381Thr) rs548559412 0.00001
NM_133459.4(CCBE1):c.1148T>C (p.Leu383Pro) rs755044198 0.00001
NM_133459.4(CCBE1):c.1157G>C (p.Gly386Ala) rs766519876 0.00001
NM_133459.4(CCBE1):c.1163A>G (p.Asp388Gly) rs530079482 0.00001
NM_133459.4(CCBE1):c.116C>T (p.Pro39Leu) rs1481447742 0.00001
NM_133459.4(CCBE1):c.1175G>T (p.Arg392Ile) rs775325478 0.00001
NM_133459.4(CCBE1):c.12G>A (p.Pro4=) rs1358508660 0.00001
NM_133459.4(CCBE1):c.132-18C>T rs1454725561 0.00001
NM_133459.4(CCBE1):c.212+18G>A rs771823200 0.00001
NM_133459.4(CCBE1):c.260C>A (p.Pro87Gln) rs756973760 0.00001
NM_133459.4(CCBE1):c.274G>A (p.Val92Ile) rs374811948 0.00001
NM_133459.4(CCBE1):c.282C>T (p.Ala94=) rs201917831 0.00001
NM_133459.4(CCBE1):c.283G>A (p.Glu95Lys) rs759566769 0.00001
NM_133459.4(CCBE1):c.401-16del rs755869578 0.00001
NM_133459.4(CCBE1):c.534C>A (p.Asp178Glu) rs146639693 0.00001
NM_133459.4(CCBE1):c.541C>T (p.Pro181Ser) rs116596858 0.00001
NM_133459.4(CCBE1):c.547G>T (p.Asp183Tyr) rs759940843 0.00001
NM_133459.4(CCBE1):c.569A>G (p.Glu190Gly) rs1485377642 0.00001
NM_133459.4(CCBE1):c.633C>T (p.Thr211=) rs764676830 0.00001
NM_133459.4(CCBE1):c.685C>A (p.Leu229Met) rs1910765837 0.00001
NM_133459.4(CCBE1):c.708C>T (p.Asp236=) rs766503507 0.00001
NM_133459.4(CCBE1):c.738A>G (p.Pro246=) rs201437351 0.00001
NM_133459.4(CCBE1):c.774C>T (p.Pro258=) rs776263282 0.00001
NM_133459.4(CCBE1):c.800C>T (p.Pro267Leu) rs749766791 0.00001
NM_133459.4(CCBE1):c.811G>A (p.Gly271Ser) rs1379996037 0.00001
NM_133459.4(CCBE1):c.83C>T (p.Ala28Val) rs776814391 0.00001
NM_133459.4(CCBE1):c.927G>T (p.Gly309=) rs751100378 0.00001
NM_133459.4(CCBE1):c.942T>C (p.Asp314=) rs200439896 0.00001
NM_133459.4(CCBE1):c.965C>T (p.Ala322Val) rs115699870 0.00001
NM_133459.4(CCBE1):c.968C>A (p.Pro323His) rs746881230 0.00001
GRCh37/hg19 18q21.32(chr18:57108312-57484185)x3
GRCh37/hg19 18q21.32(chr18:57169991-57303589)x1
NC_000018.9:g.(?_57363841)_(57364574_?)del
NM_133459.4(CCBE1):c.*1161dup rs886054067
NM_133459.4(CCBE1):c.*1251G>A rs886054066
NM_133459.4(CCBE1):c.*1258C>G rs571761684
NM_133459.4(CCBE1):c.*146C>T rs886054074
NM_133459.4(CCBE1):c.*1489G>T rs1598896983
NM_133459.4(CCBE1):c.*1724C>T rs556647312
NM_133459.4(CCBE1):c.*1725G>A rs886054064
NM_133459.4(CCBE1):c.*1737C>T rs553357543
NM_133459.4(CCBE1):c.*1861C>T rs1192851582
NM_133459.4(CCBE1):c.*1933del rs886054061
NM_133459.4(CCBE1):c.*1933dup rs886054061
NM_133459.4(CCBE1):c.*1991_*1994del rs886054060
NM_133459.4(CCBE1):c.*2013_*2016del rs373652074
NM_133459.4(CCBE1):c.*2014_*2016dup rs373652074
NM_133459.4(CCBE1):c.*2015_*2017dup rs886054057
NM_133459.4(CCBE1):c.*2051C>A rs886054056
NM_133459.4(CCBE1):c.*2121C>T rs1910029324
NM_133459.4(CCBE1):c.*2210T>C rs886054054
NM_133459.4(CCBE1):c.*2227G>A rs9959855
NM_133459.4(CCBE1):c.*2297_*2298dup rs35448271
NM_133459.4(CCBE1):c.*2298dup rs35448271
NM_133459.4(CCBE1):c.*2403dup
NM_133459.4(CCBE1):c.*261T>C rs886054072
NM_133459.4(CCBE1):c.*2635A>G rs1187439806
NM_133459.4(CCBE1):c.*2638del rs5825337
NM_133459.4(CCBE1):c.*2639del rs886054051
NM_133459.4(CCBE1):c.*267del rs561328038
NM_133459.4(CCBE1):c.*2891G>A rs886054048
NM_133459.4(CCBE1):c.*2951_*2952dup rs11424706
NM_133459.4(CCBE1):c.*2952dup rs11424706
NM_133459.4(CCBE1):c.*306_*307insAAAT rs886054071
NM_133459.4(CCBE1):c.*3231G>A rs1008043301
NM_133459.4(CCBE1):c.*3239G>C rs1909983760
NM_133459.4(CCBE1):c.*3475G>C rs17769805
NM_133459.4(CCBE1):c.*3668_*3676del rs886054045
NM_133459.4(CCBE1):c.*3704C>A rs193017602
NM_133459.4(CCBE1):c.*3784_*3787del rs886054043
NM_133459.4(CCBE1):c.*3853C>T rs145393328
NM_133459.4(CCBE1):c.*3883G>T rs886054041
NM_133459.4(CCBE1):c.*4215A>T rs1344828295
NM_133459.4(CCBE1):c.*4282G>A rs866996406
NM_133459.4(CCBE1):c.*4426del rs66482821
NM_133459.4(CCBE1):c.*4525T>C rs1909941641
NM_133459.4(CCBE1):c.*4550AAT[1] rs553910582
NM_133459.4(CCBE1):c.*4796G>C rs1048008
NM_133459.4(CCBE1):c.*4956A>C rs886054039
NM_133459.4(CCBE1):c.*519dup rs35018840
NM_133459.4(CCBE1):c.*645T>C rs886054070
NM_133459.4(CCBE1):c.*739A>T rs886054069
NM_133459.4(CCBE1):c.*781A>T rs1598897452
NM_133459.4(CCBE1):c.*938G>T rs1032781139
NM_133459.4(CCBE1):c.1000T>G (p.Ser334Ala) rs1910146610
NM_133459.4(CCBE1):c.1030G>C (p.Asp344His) rs2143605525
NM_133459.4(CCBE1):c.1037G>A (p.Arg346His)
NM_133459.4(CCBE1):c.1037G>T (p.Arg346Leu) rs768229052
NM_133459.4(CCBE1):c.1045A>G (p.Ile349Val) rs2143605403
NM_133459.4(CCBE1):c.1049C>T (p.Thr350Ile)
NM_133459.4(CCBE1):c.1052A>G (p.Glu351Gly) rs757595184
NM_133459.4(CCBE1):c.1058A>G (p.Gln353Arg) rs192224843
NM_133459.4(CCBE1):c.105C>T (p.Tyr35=)
NM_133459.4(CCBE1):c.1072_1075del (p.Gly358fs)
NM_133459.4(CCBE1):c.1079G>A (p.Arg360Gln) rs200219373
NM_133459.4(CCBE1):c.1086C>T (p.His362=) rs1910139279
NM_133459.4(CCBE1):c.1101G>A (p.Glu367=)
NM_133459.4(CCBE1):c.1111C>T (p.Pro371Ser)
NM_133459.4(CCBE1):c.1120T>A (p.Phe374Ile) rs778249985
NM_133459.4(CCBE1):c.1126A>G (p.Ser376Gly) rs983124374
NM_133459.4(CCBE1):c.1141A>G (p.Met381Val) rs2143604802
NM_133459.4(CCBE1):c.1164C>T (p.Asp388=)
NM_133459.4(CCBE1):c.1166A>G (p.His389Arg) rs751464648
NM_133459.4(CCBE1):c.1173A>G (p.Arg391=) rs1044109324
NM_133459.4(CCBE1):c.118G>C (p.Glu40Gln)
NM_133459.4(CCBE1):c.1196G>A (p.Arg399Lys)
NM_133459.4(CCBE1):c.1198G>A (p.Ala400Thr) rs1437521994
NM_133459.4(CCBE1):c.11C>T (p.Pro4Leu) rs1399379357
NM_133459.4(CCBE1):c.1200C>T (p.Ala400=)
NM_133459.4(CCBE1):c.1217C>A (p.Pro406Gln)
NM_133459.4(CCBE1):c.121G>A (p.Asp41Asn) rs2054820970
NM_133459.4(CCBE1):c.123C>T (p.Asp41=) rs80008675
NM_133459.4(CCBE1):c.131+11_131+12insT
NM_133459.4(CCBE1):c.131+14G>A
NM_133459.4(CCBE1):c.131+18C>T
NM_133459.4(CCBE1):c.131+5G>A
NM_133459.4(CCBE1):c.132-14_132-13delinsCT rs2144762326
NM_133459.4(CCBE1):c.138C>A (p.Ile46=)
NM_133459.4(CCBE1):c.140G>C (p.Cys47Ser)
NM_133459.4(CCBE1):c.155T>C (p.Ile52Thr)
NM_133459.4(CCBE1):c.159G>A (p.Ala53=)
NM_133459.4(CCBE1):c.166A>G (p.Lys56Glu)
NM_133459.4(CCBE1):c.173C>T (p.Pro58Leu) rs778757631
NM_133459.4(CCBE1):c.174G>C (p.Pro58=)
NM_133459.4(CCBE1):c.190G>A (p.Gly64Ser)
NM_133459.4(CCBE1):c.193G>A (p.Glu65Lys)
NM_133459.4(CCBE1):c.201C>G (p.Thr67=) rs1424630322
NM_133459.4(CCBE1):c.208T>C (p.Tyr70His)
NM_133459.4(CCBE1):c.212+13G>A
NM_133459.4(CCBE1):c.212+19C>A
NM_133459.4(CCBE1):c.212+20G>A
NM_133459.4(CCBE1):c.213-11_213-8del
NM_133459.4(CCBE1):c.213-19A>G
NM_133459.4(CCBE1):c.213-1G>A rs201030273
NM_133459.4(CCBE1):c.213-5C>T
NM_133459.4(CCBE1):c.213-7C>G
NM_133459.4(CCBE1):c.21C>A (p.Ser7Arg)
NM_133459.4(CCBE1):c.226A>C (p.Lys76Gln)
NM_133459.4(CCBE1):c.234T>C (p.Tyr78=)
NM_133459.4(CCBE1):c.23G>T (p.Arg8Leu)
NM_133459.4(CCBE1):c.252A>G (p.Gln84=)
NM_133459.4(CCBE1):c.253T>C (p.Cys85Arg)
NM_133459.4(CCBE1):c.265+1G>A
NM_133459.4(CCBE1):c.266-11T>C
NM_133459.4(CCBE1):c.267T>C (p.Asp89=) rs2143732737
NM_133459.4(CCBE1):c.270C>T (p.Tyr90=)
NM_133459.4(CCBE1):c.284A>G (p.Glu95Gly)
NM_133459.4(CCBE1):c.289C>G (p.Pro97Ala) rs1216440169
NM_133459.4(CCBE1):c.289C>T (p.Pro97Ser) rs1216440169
NM_133459.4(CCBE1):c.28G>A (p.Gly10Arg)
NM_133459.4(CCBE1):c.2T>C (p.Met1Thr)
NM_133459.4(CCBE1):c.2T>G (p.Met1Arg)
NM_133459.4(CCBE1):c.303G>T (p.Gln101His)
NM_133459.4(CCBE1):c.305G>C (p.Cys102Ser) rs121908251
NM_133459.4(CCBE1):c.308C>A (p.Thr103Lys)
NM_133459.4(CCBE1):c.309G>A (p.Thr103=)
NM_133459.4(CCBE1):c.322C>T (p.Arg108Ter)
NM_133459.4(CCBE1):c.345G>A (p.Pro115=)
NM_133459.4(CCBE1):c.347G>C (p.Gly116Ala)
NM_133459.4(CCBE1):c.347G>T (p.Gly116Val)
NM_133459.4(CCBE1):c.353G>T (p.Arg118Leu)
NM_133459.4(CCBE1):c.37_58del (p.Arg13fs)
NM_133459.4(CCBE1):c.381G>A (p.Arg127=)
NM_133459.4(CCBE1):c.400+17C>T rs1258539221
NM_133459.4(CCBE1):c.400+1del rs2143731723
NM_133459.4(CCBE1):c.401-11G>C rs2143722177
NM_133459.4(CCBE1):c.429G>A (p.Gly143=)
NM_133459.4(CCBE1):c.432G>A (p.Thr144=)
NM_133459.4(CCBE1):c.435G>A (p.Leu145=)
NM_133459.4(CCBE1):c.444C>T (p.His148=) rs2143721870
NM_133459.4(CCBE1):c.458C>T (p.Thr153Ile) rs200149541
NM_133459.4(CCBE1):c.460T>G (p.Leu154Val) rs796238108
NM_133459.4(CCBE1):c.465C>T (p.Gly155=)
NM_133459.4(CCBE1):c.477C>A (p.Cys159Ter)
NM_133459.4(CCBE1):c.491G>A (p.Gly164Asp)
NM_133459.4(CCBE1):c.501G>A (p.Arg167=)
NM_133459.4(CCBE1):c.505G>C (p.Asp169His) rs779047579
NM_133459.4(CCBE1):c.508G>A (p.Asp170Asn) rs2143721414
NM_133459.4(CCBE1):c.519A>C (p.Thr173=)
NM_133459.4(CCBE1):c.528G>C (p.Arg176Ser)
NM_133459.4(CCBE1):c.545A>T (p.Asn182Ile) rs764855611
NM_133459.4(CCBE1):c.553+18A>G
NM_133459.4(CCBE1):c.553+8G>A
NM_133459.4(CCBE1):c.554-12C>T
NM_133459.4(CCBE1):c.554-3C>T rs1911116370
NM_133459.4(CCBE1):c.560A>G (p.Glu187Gly)
NM_133459.4(CCBE1):c.567T>G (p.Ser189=)
NM_133459.4(CCBE1):c.56G>A (p.Ser19Asn)
NM_133459.4(CCBE1):c.578T>C (p.Val193Ala)
NM_133459.4(CCBE1):c.57C>A (p.Ser19Arg)
NM_133459.4(CCBE1):c.585C>T (p.Ala195=)
NM_133459.4(CCBE1):c.596G>A (p.Cys199Tyr)
NM_133459.4(CCBE1):c.606C>T (p.Cys202=)
NM_133459.4(CCBE1):c.60G>C (p.Leu20=) rs2054822706
NM_133459.4(CCBE1):c.612G>A (p.Glu204=)
NM_133459.4(CCBE1):c.618C>T (p.Tyr206=)
NM_133459.4(CCBE1):c.634G>A (p.Val212Met)
NM_133459.4(CCBE1):c.639G>A (p.Leu213=)
NM_133459.4(CCBE1):c.654+15G>A
NM_133459.4(CCBE1):c.654+20del rs760019600
NM_133459.4(CCBE1):c.654+4C>G rs770958531
NM_133459.4(CCBE1):c.654+4C>T rs770958531
NM_133459.4(CCBE1):c.654+5G>A rs150596993
NM_133459.4(CCBE1):c.654+5G>C rs150596993
NM_133459.4(CCBE1):c.654+9C>T
NM_133459.4(CCBE1):c.654G>C (p.Lys218Asn) rs765432175
NM_133459.4(CCBE1):c.655-10C>A
NM_133459.4(CCBE1):c.655-4G>T
NM_133459.4(CCBE1):c.660T>C (p.Ala220=)
NM_133459.4(CCBE1):c.665T>C (p.Leu222Pro)
NM_133459.4(CCBE1):c.668C>T (p.Pro223Leu) rs1351639103
NM_133459.4(CCBE1):c.669C>A (p.Pro223=) rs886054075
NM_133459.4(CCBE1):c.66G>A (p.Pro22=)
NM_133459.4(CCBE1):c.672C>T (p.Asn224=)
NM_133459.4(CCBE1):c.687G>A (p.Leu229=)
NM_133459.4(CCBE1):c.693G>A (p.Lys231=)
NM_133459.4(CCBE1):c.699C>G (p.Ile233Met) rs2143649786
NM_133459.4(CCBE1):c.6G>A (p.Val2=)
NM_133459.4(CCBE1):c.700A>G (p.Thr234Ala)
NM_133459.4(CCBE1):c.70C>A (p.Leu24Met)
NM_133459.4(CCBE1):c.717G>A (p.Leu239=)
NM_133459.4(CCBE1):c.727A>G (p.Thr243Ala)
NM_133459.4(CCBE1):c.733C>G (p.Leu245Val) rs761011754
NM_133459.4(CCBE1):c.746C>T (p.Pro249Leu)
NM_133459.4(CCBE1):c.764A>G (p.Gln255Arg) rs2143649409
NM_133459.4(CCBE1):c.775+16G>A
NM_133459.4(CCBE1):c.775+17G>A
NM_133459.4(CCBE1):c.775+19A>G
NM_133459.4(CCBE1):c.775+7G>T
NM_133459.4(CCBE1):c.775+82A>G rs3809990
NM_133459.4(CCBE1):c.775G>A (p.Gly259Ser)
NM_133459.4(CCBE1):c.776-8G>C
NM_133459.4(CCBE1):c.792G>A (p.Lys264=)
NM_133459.4(CCBE1):c.806T>C (p.Phe269Ser)
NM_133459.4(CCBE1):c.808C>T (p.Pro270Ser)
NM_133459.4(CCBE1):c.824C>T (p.Pro275Leu)
NM_133459.4(CCBE1):c.828T>A (p.Pro276=)
NM_133459.4(CCBE1):c.844C>T (p.Arg282Trp)
NM_133459.4(CCBE1):c.859C>T (p.Pro287Ser)
NM_133459.4(CCBE1):c.864G>A (p.Met288Ile)
NM_133459.4(CCBE1):c.882G>A (p.Leu294=) rs2143618879
NM_133459.4(CCBE1):c.886dup (p.His296fs)
NM_133459.4(CCBE1):c.888C>T (p.His296=)
NM_133459.4(CCBE1):c.889A>G (p.Ile297Val)
NM_133459.4(CCBE1):c.89G>T (p.Gly30Val) rs2144763623
NM_133459.4(CCBE1):c.909C>A (p.Gly303=)
NM_133459.4(CCBE1):c.915+15A>G
NM_133459.4(CCBE1):c.916-19A>C
NM_133459.4(CCBE1):c.916-20C>T
NM_133459.4(CCBE1):c.916-20del
NM_133459.4(CCBE1):c.916-2A>T
NM_133459.4(CCBE1):c.920C>T (p.Pro307Leu)
NM_133459.4(CCBE1):c.928dup (p.Ala310fs) rs2143618172
NM_133459.4(CCBE1):c.944G>A (p.Gly315Asp) rs753076643
NM_133459.4(CCBE1):c.949A>G (p.Lys317Glu) rs2143618046
NM_133459.4(CCBE1):c.94_95dup (p.Trp33fs)
NM_133459.4(CCBE1):c.951+11T>C
NM_133459.4(CCBE1):c.951+7C>T
NM_133459.4(CCBE1):c.952-11T>C
NM_133459.4(CCBE1):c.952G>T (p.Gly318Trp)
NM_133459.4(CCBE1):c.976A>G (p.Arg326Gly) rs1910243716
NM_133459.4(CCBE1):c.979G>C (p.Gly327Arg) rs121908252
NM_133459.4(CCBE1):c.987+12del rs1248911841
NM_133459.4(CCBE1):c.987+13_987+14del
NM_133459.4(CCBE1):c.987+17_987+18del
NM_133459.4(CCBE1):c.988-154dup rs11427032
NM_133459.4(CCBE1):c.988-18T>C
NM_133459.4(CCBE1):c.988-19A>T rs1910149176
NM_133459.4(CCBE1):c.991C>T (p.Pro331Ser) rs1044732773

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