ClinVar Miner

List of variants in gene TJP2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 554
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HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.239+19T>C rs2498417 0.90366
NM_004817.4(TJP2):c.61-7456A>G rs2498440 0.88915
NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu) rs2309428 0.77489
NM_004817.4(TJP2):c.2356-84C>G rs2993823 0.64834
NM_004817.4(TJP2):c.*183G>A rs3812536 0.42169
NM_004817.4(TJP2):c.115-229C>A rs3750549 0.41595
NM_004817.4(TJP2):c.2992-19G>A rs2282335 0.39706
NM_004817.4(TJP2):c.114+101T>C rs34883177 0.38176
NM_004817.4(TJP2):c.2356-126C>G rs10867196 0.28953
NM_004817.4(TJP2):c.1991+54A>G rs2275430 0.27500
NM_004817.4(TJP2):c.1781-91G>A rs2275431 0.26234
NM_004817.4(TJP2):c.2566+207A>G rs41312176 0.24930
NM_004817.4(TJP2):c.2715C>T (p.Thr905=) rs2282336 0.22650
NM_004817.4(TJP2):c.2727G>A (p.Ala909=) rs2095876 0.22643
NM_004817.4(TJP2):c.2180-34G>A rs2309421 0.22518
NM_004817.4(TJP2):c.1991+261G>A rs9410796 0.19981
NM_004817.4(TJP2):c.1056+73C>A rs17062682 0.18658
NM_004817.4(TJP2):c.2668-271A>T rs34992883 0.12139
NM_004817.4(TJP2):c.1211-290C>T rs11137588 0.11007
NM_004817.4(TJP2):c.382C>A (p.Gln128Lys) rs41305539 0.10827
NM_004817.4(TJP2):c.239+173dup rs139444591 0.10292
NM_004817.4(TJP2):c.1672-20C>G rs80014470 0.09453
NM_004817.4(TJP2):c.1454-193dup rs147262838 0.08976
NM_004817.4(TJP2):c.1211-302A>T rs17411479 0.08855
NM_004817.4(TJP2):c.1137A>G (p.Leu379=) rs17062695 0.08425
NM_004817.4(TJP2):c.953-295G>C rs12341832 0.07713
NM_004817.4(TJP2):c.1991+117C>T rs41316486 0.07474
NM_004817.4(TJP2):c.952+160T>C rs139832825 0.07340
NM_004817.4(TJP2):c.2880+95A>G rs77236826 0.07154
NM_004817.4(TJP2):c.2880+223C>T rs11793527 0.07143
NM_004817.4(TJP2):c.115-94T>G rs72709078 0.07139
NM_004817.4(TJP2):c.1056+155A>T rs12683448 0.06861
NM_004817.4(TJP2):c.1780+55A>T rs78681248 0.06056
NM_004817.4(TJP2):c.3029C>T (p.Ser1010Phe) rs41277907 0.05575
NM_004817.4(TJP2):c.3407+45A>G rs41277913 0.04978
NM_004817.4(TJP2):c.2992-116G>A rs117794991 0.04729
NM_004817.4(TJP2):c.2179+152A>G rs12553945 0.04707
NM_004817.4(TJP2):c.2004G>A (p.Met668Ile) rs34774441 0.04571
NM_004817.4(TJP2):c.2275+16T>G rs73450890 0.04139
NM_004817.4(TJP2):c.2667+139A>G rs74523274 0.04124
NM_004817.4(TJP2):c.342+102C>T rs78266220 0.03536
NM_004817.4(TJP2):c.1780+78G>C rs78326540 0.03404
NM_004817.4(TJP2):c.2180-47C>T rs73450889 0.02835
NM_004817.4(TJP2):c.1781-115G>A rs73450886 0.02810
NM_004817.4(TJP2):c.3408-99C>T rs7019775 0.02668
NM_004817.4(TJP2):c.2131T>C (p.Ser711Pro) rs35797487 0.02532
NM_004817.4(TJP2):c.1350C>T (p.Ser450=) rs17062723 0.02463
NM_004817.4(TJP2):c.2276-161G>C rs75392135 0.02399
NM_004817.4(TJP2):c.2567-342C>T rs72709091 0.02150
NM_004817.4(TJP2):c.342+12G>T rs7027812 0.01934
NM_004817.4(TJP2):c.61-7692T>C rs73649624 0.01917
NM_004817.4(TJP2):c.1781-188A>G rs112646831 0.01728
NM_004817.4(TJP2):c.1672-295A>G rs145846322 0.01719
NM_004817.4(TJP2):c.2356-229G>A rs113153370 0.01546
NM_004817.4(TJP2):c.952+319G>A rs7867725 0.01534
NM_004817.4(TJP2):c.2668-30C>T rs113671582 0.01353
NM_004817.4(TJP2):c.1917C>T (p.Asp639=) rs12340440 0.01348
NM_004817.4(TJP2):c.2646G>A (p.Ala882=) rs11788754 0.01323
NM_004817.4(TJP2):c.2668-249G>A rs11789323 0.01321
NM_004817.4(TJP2):c.2778C>T (p.Asp926=) rs140442228 0.01321
NM_004817.4(TJP2):c.1478G>A (p.Arg493Lys) rs41277901 0.01317
NM_004817.4(TJP2):c.2668-90C>T rs117754658 0.01315
NM_004817.4(TJP2):c.3407+33C>T rs41277911 0.01302
NM_004817.4(TJP2):c.2367A>G (p.Ala789=) rs75668442 0.01213
NM_004817.4(TJP2):c.952+39A>G rs11137566 0.01090
NM_004817.4(TJP2):c.343-117T>C rs7853480 0.01027
NM_004817.4(TJP2):c.61-6929A>G rs114628921 0.01016
NM_001170414.2(TJP2):c.-10+22063G>A rs12340435 0.01014
NM_004817.4(TJP2):c.297G>A (p.Ser99=) rs72709079 0.00975
NM_004817.4(TJP2):c.3495G>A (p.Glu1165=) rs111595785 0.00843
NM_004817.4(TJP2):c.2810T>C (p.Leu937Pro) rs28556975 0.00841
NM_004817.4(TJP2):c.2137A>G (p.Ser713Gly) rs116545275 0.00763
NM_004817.4(TJP2):c.1056+167T>C rs73649627 0.00704
NM_004817.4(TJP2):c.1520+184G>A rs73649628 0.00704
NM_004817.4(TJP2):c.2276-171G>A rs181386193 0.00699
NM_004817.4(TJP2):c.1091C>T (p.Thr364Met) rs77321498 0.00629
NM_004817.4(TJP2):c.61-6972G>C rs141726498 0.00576
NM_004817.4(TJP2):c.61-7344G>C rs73450853 0.00547
NM_004817.4(TJP2):c.61-301T>C rs111648575 0.00539
NM_004817.4(TJP2):c.2668-89G>A rs78728942 0.00440
NM_004817.4(TJP2):c.1780+318C>T rs75342415 0.00405
NM_004817.4(TJP2):c.1671+110C>G rs75980642 0.00382
NM_004817.4(TJP2):c.1063G>C (p.Gly355Arg) rs78681604 0.00381
NM_004817.4(TJP2):c.2667+29G>C rs112883125 0.00381
NM_004817.4(TJP2):c.3407+22C>G rs78327988 0.00351
NM_004817.4(TJP2):c.1210+243T>C rs191814350 0.00346
NM_004817.4(TJP2):c.2040G>A (p.Gly680=) rs111723895 0.00330
NM_004817.4(TJP2):c.2992-8C>T rs143965233 0.00327
NM_004817.4(TJP2):c.644G>A (p.Arg215His) rs201977617 0.00322
NM_004817.4(TJP2):c.952+52T>C rs183291194 0.00321
NM_004817.4(TJP2):c.342+111C>T rs148364966 0.00319
NM_004817.4(TJP2):c.-16G>T rs199557806 0.00310
NM_004817.4(TJP2):c.240-231C>T rs191289272 0.00292
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg) rs75450131 0.00273
NM_001170414.2(TJP2):c.-10G>A rs374563251 0.00240
NM_004817.4(TJP2):c.2356-49A>G rs80159786 0.00221
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln) rs150883816 0.00211
NM_004817.4(TJP2):c.1671+181A>G rs3750550 0.00190
NM_004817.4(TJP2):c.2691C>T (p.Pro897=) rs149969431 0.00180
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_004817.4(TJP2):c.239+16C>T rs190537310 0.00158
NM_004817.4(TJP2):c.3342T>C (p.His1114=) rs61753629 0.00157
NM_004817.4(TJP2):c.1781-16T>C rs59088021 0.00145
NM_004817.4(TJP2):c.61-6A>T rs200415824 0.00145
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser) rs149911553 0.00110
NM_004817.4(TJP2):c.1057-17A>G rs41277895 0.00093
NM_004817.4(TJP2):c.981C>A (p.Ile327=) rs147139671 0.00052
NM_004817.4(TJP2):c.908C>T (p.Pro303Leu) rs199641113 0.00048
NM_004817.4(TJP2):c.1018A>G (p.Lys340Glu) rs763206171 0.00046
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr) rs149659876 0.00044
NM_004817.4(TJP2):c.2880+19C>T rs200384355 0.00044
NM_004817.4(TJP2):c.918C>T (p.Ile306=) rs374523970 0.00041
NM_004817.4(TJP2):c.2668-34G>A rs140714085 0.00037
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) rs199761505 0.00034
NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met) rs376663560 0.00033
NM_004817.4(TJP2):c.3160A>G (p.Thr1054Ala) rs57728054 0.00031
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val) rs199767035 0.00029
NM_004817.4(TJP2):c.61-7341A>G rs151117327 0.00029
NM_004817.4(TJP2):c.2726C>T (p.Ala909Val) rs146761713 0.00028
NM_004817.4(TJP2):c.61-7416G>A rs117931408 0.00028
NM_004817.4(TJP2):c.2880+136G>C rs372958385 0.00024
NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu) rs199892018 0.00024
NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr) rs139276234 0.00022
NM_004817.4(TJP2):c.2384C>T (p.Pro795Leu) rs139867659 0.00019
NM_004817.4(TJP2):c.3150G>A (p.Leu1050=) rs141675065 0.00019
NM_004817.4(TJP2):c.2277A>C (p.Lys759Asn) rs144429323 0.00018
NM_004817.4(TJP2):c.2852G>A (p.Arg951His) rs368776552 0.00018
NM_004817.4(TJP2):c.2129T>C (p.Val710Ala) rs150440380 0.00017
NM_004817.4(TJP2):c.705G>T (p.Arg235=) rs750625862 0.00017
NM_004817.4(TJP2):c.1473C>A (p.Ala491=) rs138509345 0.00015
NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met) rs139636763 0.00015
NM_004817.4(TJP2):c.3407+7G>A rs369322645 0.00015
NM_004817.4(TJP2):c.1818G>A (p.Ser606=) rs527789195 0.00014
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu) rs201366118 0.00014
NM_004817.4(TJP2):c.375C>T (p.Ala125=) rs181450555 0.00014
NM_004817.4(TJP2):c.887G>A (p.Ser296Asn) rs376434139 0.00014
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=) rs367977493 0.00013
NM_004817.4(TJP2):c.3140G>C (p.Arg1047Pro) rs191327525 0.00013
NM_004817.4(TJP2):c.61-7319G>C rs371868876 0.00013
NM_004817.4(TJP2):c.1656A>G (p.Gly552=) rs150723764 0.00012
NM_004817.4(TJP2):c.2335G>A (p.Val779Met) rs145368713 0.00012
NM_004817.4(TJP2):c.2864C>T (p.Pro955Leu) rs769636686 0.00012
NM_004817.4(TJP2):c.2937C>T (p.Ser979=) rs138333815 0.00012
NM_004817.4(TJP2):c.1506T>C (p.Asp502=) rs139354927 0.00011
NM_004817.4(TJP2):c.2270C>T (p.Thr757Ile) rs189443180 0.00011
NM_004817.4(TJP2):c.2909G>A (p.Arg970Gln) rs150494393 0.00011
NM_004817.4(TJP2):c.577C>T (p.Arg193Trp) rs200390074 0.00011
NM_004817.4(TJP2):c.788G>A (p.Arg263Gln) rs368849809 0.00011
NM_004817.4(TJP2):c.2961G>A (p.Pro987=) rs371617466 0.00010
NM_004817.4(TJP2):c.3071G>A (p.Gly1024Asp) rs138564703 0.00010
NM_004817.4(TJP2):c.334G>A (p.Ala112Thr) rs144396411 0.00010
NM_004817.4(TJP2):c.1005G>A (p.Thr335=) rs140444730 0.00009
NM_004817.4(TJP2):c.1597A>T (p.Ile533Leu) rs770295068 0.00009
NM_004817.4(TJP2):c.1953G>T (p.Gly651=) rs750134026 0.00009
NM_004817.4(TJP2):c.2567-12A>G rs761461587 0.00009
NM_004817.4(TJP2):c.2859G>T (p.Ser953=) rs369972534 0.00009
NM_004817.4(TJP2):c.985G>A (p.Val329Ile) rs140340673 0.00009
NM_004817.4(TJP2):c.2970A>G (p.Ala990=) rs727503481 0.00008
NM_004817.4(TJP2):c.638G>T (p.Arg213Leu) rs775377668 0.00008
NM_004817.4(TJP2):c.2034C>T (p.Asn678=) rs373160031 0.00007
NM_004817.4(TJP2):c.212C>T (p.Pro71Leu) rs142847960 0.00007
NM_004817.4(TJP2):c.2279C>T (p.Thr760Met) rs370850127 0.00007
NM_004817.4(TJP2):c.23G>C (p.Gly8Ala) rs373291069 0.00007
NM_004817.4(TJP2):c.37C>T (p.Arg13Trp) rs141127141 0.00007
NM_004817.4(TJP2):c.1035C>T (p.His345=) rs144213955 0.00006
NM_004817.4(TJP2):c.1056+15G>A rs369589888 0.00006
NM_004817.4(TJP2):c.1320-19C>T rs199943912 0.00006
NM_004817.4(TJP2):c.2334C>T (p.Thr778=) rs183285809 0.00006
NM_004817.4(TJP2):c.2858C>T (p.Ser953Leu) rs377218278 0.00006
NM_004817.4(TJP2):c.2880+17C>T rs778212657 0.00006
NM_004817.4(TJP2):c.2884A>G (p.Ile962Val) rs199704587 0.00006
NM_004817.4(TJP2):c.61-7293C>G rs566121116 0.00006
NM_004817.4(TJP2):c.64C>G (p.Pro22Ala) rs541933921 0.00006
NM_004817.4(TJP2):c.919G>A (p.Gly307Arg) rs755673431 0.00006
NM_004817.4(TJP2):c.-5C>T rs1021636166 0.00005
NM_004817.4(TJP2):c.1336C>A (p.Pro446Thr) rs141175414 0.00005
NM_004817.4(TJP2):c.3225C>T (p.Pro1075=) rs146241989 0.00005
NM_004817.4(TJP2):c.3322A>G (p.Ile1108Val) rs201835299 0.00005
NM_004817.4(TJP2):c.3500G>T (p.Arg1167Leu) rs370985421 0.00005
NM_004817.4(TJP2):c.911G>A (p.Gly304Glu) rs200222645 0.00005
NM_004817.4(TJP2):c.1197C>T (p.Asp399=) rs760089916 0.00004
NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser) rs746223152 0.00004
NM_004817.4(TJP2):c.1629G>A (p.Ser543=) rs771239031 0.00004
NM_004817.4(TJP2):c.1631C>T (p.Ala544Val) rs142684074 0.00004
NM_004817.4(TJP2):c.1908A>C (p.Thr636=) rs747037912 0.00004
NM_004817.4(TJP2):c.19C>T (p.Arg7Cys) rs886044200 0.00004
NM_004817.4(TJP2):c.2044C>T (p.Arg682Trp) rs760622082 0.00004
NM_004817.4(TJP2):c.2751C>T (p.Arg917=) rs184519036 0.00004
NM_004817.4(TJP2):c.3115G>A (p.Val1039Ile) rs774645374 0.00004
NM_004817.4(TJP2):c.3183T>G (p.Gly1061=) rs749387422 0.00004
NM_004817.4(TJP2):c.848G>A (p.Arg283Gln) rs748102718 0.00004
NM_004817.4(TJP2):c.904C>T (p.Arg302Trp) rs397516631 0.00004
NM_004817.4(TJP2):c.1087T>C (p.Leu363=) rs1051910552 0.00003
NM_004817.4(TJP2):c.1211-4C>T rs1051968602 0.00003
NM_004817.4(TJP2):c.1475C>T (p.Pro492Leu) rs200531230 0.00003
NM_004817.4(TJP2):c.1771C>T (p.Arg591Ter) rs764379398 0.00003
NM_004817.4(TJP2):c.1817C>T (p.Ser606Leu) rs776993361 0.00003
NM_004817.4(TJP2):c.190A>G (p.Ile64Val) rs1400260492 0.00003
NM_004817.4(TJP2):c.1967A>G (p.Lys656Arg) rs754878810 0.00003
NM_004817.4(TJP2):c.1995T>A (p.Ala665=) rs146741666 0.00003
NM_004817.4(TJP2):c.2457A>G (p.Gln819=) rs988720358 0.00003
NM_004817.4(TJP2):c.2493G>A (p.Thr831=) rs944668173 0.00003
NM_004817.4(TJP2):c.2708A>C (p.Tyr903Ser) rs775354216 0.00003
NM_004817.4(TJP2):c.2749C>T (p.Arg917Cys) rs1219019246 0.00003
NM_004817.4(TJP2):c.2750G>A (p.Arg917His) rs751606391 0.00003
NM_004817.4(TJP2):c.2824G>A (p.Glu942Lys) rs766312893 0.00003
NM_004817.4(TJP2):c.2880+8G>A rs756700057 0.00003
NM_004817.4(TJP2):c.2943A>C (p.Gln981His) rs112917902 0.00003
NM_004817.4(TJP2):c.2987C>T (p.Pro996Leu) rs727504634 0.00003
NM_004817.4(TJP2):c.2992-11G>T rs747169971 0.00003
NM_004817.4(TJP2):c.3064G>A (p.Val1022Ile) rs779787233 0.00003
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=) rs771190188 0.00003
NM_004817.4(TJP2):c.428T>C (p.Met143Thr) rs1011824757 0.00003
NM_004817.4(TJP2):c.61-7A>G rs755087942 0.00003
NM_004817.4(TJP2):c.655C>T (p.Arg219Trp) rs750631073 0.00003
NM_004817.4(TJP2):c.877C>T (p.Arg293Trp) rs189916909 0.00003
NM_004817.4(TJP2):c.964C>T (p.Arg322Trp) rs759484247 0.00003
NM_004817.4(TJP2):c.1027A>G (p.Asn343Asp) rs538420656 0.00002
NM_004817.4(TJP2):c.1053C>T (p.Leu351=) rs1056969112 0.00002
NM_004817.4(TJP2):c.1557C>T (p.Asp519=) rs1461192304 0.00002
NM_004817.4(TJP2):c.1826T>C (p.Ile609Thr) rs929371716 0.00002
NM_004817.4(TJP2):c.213G>A (p.Pro71=) rs780781603 0.00002
NM_004817.4(TJP2):c.2774C>T (p.Thr925Met) rs774198938 0.00002
NM_004817.4(TJP2):c.2775G>A (p.Thr925=) rs374453976 0.00002
NM_004817.4(TJP2):c.2832G>A (p.Pro944=) rs191634088 0.00002
NM_004817.4(TJP2):c.2840C>T (p.Ser947Leu) rs756610227 0.00002
NM_004817.4(TJP2):c.2851C>T (p.Arg951Cys) rs771756670 0.00002
NM_004817.4(TJP2):c.2863C>A (p.Pro955Thr) rs1034527835 0.00002
NM_004817.4(TJP2):c.2880+40G>A rs977437125 0.00002
NM_004817.4(TJP2):c.3484G>A (p.Glu1162Lys) rs769695480 0.00002
NM_004817.4(TJP2):c.491A>G (p.His164Arg) rs749563094 0.00002
NM_004817.4(TJP2):c.630G>A (p.Ala210=) rs1004298993 0.00002
NM_004817.4(TJP2):c.631C>T (p.Arg211Cys) rs771622774 0.00002
NM_004817.4(TJP2):c.821G>A (p.Arg274His) rs754080705 0.00002
NM_004817.4(TJP2):c.972G>T (p.Gly324=) rs372333417 0.00002
NM_004817.4(TJP2):c.1004C>T (p.Thr335Met) rs548602675 0.00001
NM_004817.4(TJP2):c.1028A>G (p.Asn343Ser) rs763855572 0.00001
NM_004817.4(TJP2):c.1056+2T>C rs1278244243 0.00001
NM_004817.4(TJP2):c.1056+8G>C rs779964139 0.00001
NM_004817.4(TJP2):c.1093G>A (p.Asp365Asn) rs772718854 0.00001
NM_004817.4(TJP2):c.1100G>A (p.Arg367Gln) rs766299633 0.00001
NM_004817.4(TJP2):c.1138G>C (p.Val380Leu) rs1439005015 0.00001
NM_004817.4(TJP2):c.1235G>A (p.Arg412Gln) rs748959984 0.00001
NM_004817.4(TJP2):c.1490G>A (p.Arg497His) rs532438219 0.00001
NM_004817.4(TJP2):c.1561G>A (p.Val521Met) rs765095120 0.00001
NM_004817.4(TJP2):c.1571G>A (p.Arg524Gln) rs758151558 0.00001
NM_004817.4(TJP2):c.1594G>A (p.Gly532Arg) rs748191387 0.00001
NM_004817.4(TJP2):c.1665T>C (p.Ile555=) rs1312263380 0.00001
NM_004817.4(TJP2):c.1780+11T>C rs758833025 0.00001
NM_004817.4(TJP2):c.1884G>A (p.Gly628=) rs1327034450 0.00001
NM_004817.4(TJP2):c.1918G>A (p.Gly640Ser) rs747962817 0.00001
NM_004817.4(TJP2):c.1960T>C (p.Leu654=) rs765975804 0.00001
NM_004817.4(TJP2):c.215G>C (p.Gly72Ala) rs747848974 0.00001
NM_004817.4(TJP2):c.2164G>A (p.Val722Ile) rs755062873 0.00001
NM_004817.4(TJP2):c.2239T>C (p.Leu747=) rs886043789 0.00001
NM_004817.4(TJP2):c.2297G>T (p.Gly766Val) rs1272933589 0.00001
NM_004817.4(TJP2):c.2372T>C (p.Leu791Pro) rs1563950539 0.00001
NM_004817.4(TJP2):c.2546del (p.Thr849fs) rs1309543056 0.00001
NM_004817.4(TJP2):c.2566G>A (p.Ala856Thr) rs1375944578 0.00001
NM_004817.4(TJP2):c.2769A>G (p.Glu923=) rs770661556 0.00001
NM_004817.4(TJP2):c.2841G>A (p.Ser947=) rs778692947 0.00001
NM_004817.4(TJP2):c.2921G>A (p.Arg974Lys) rs746031449 0.00001
NM_004817.4(TJP2):c.2954A>G (p.Asn985Ser) rs750758555 0.00001
NM_004817.4(TJP2):c.3012A>G (p.Glu1004=) rs763305813 0.00001
NM_004817.4(TJP2):c.303A>G (p.Ala101=) rs756808587 0.00001
NM_004817.4(TJP2):c.3061G>A (p.Ala1021Thr) rs765214333 0.00001
NM_004817.4(TJP2):c.3076G>A (p.Glu1026Lys) rs201202451 0.00001
NM_004817.4(TJP2):c.322A>T (p.Ser108Cys) rs727504668 0.00001
NM_004817.4(TJP2):c.3322-2A>C rs41277909 0.00001
NM_004817.4(TJP2):c.3366C>T (p.Ile1122=) rs1036854780 0.00001
NM_004817.4(TJP2):c.3372G>A (p.Thr1124=) rs745427593 0.00001
NM_004817.4(TJP2):c.343-4A>G rs779815648 0.00001
NM_004817.4(TJP2):c.3503A>G (p.Gln1168Arg) rs759725360 0.00001
NM_004817.4(TJP2):c.3522C>G (p.Ser1174=) rs761272308 0.00001
NM_004817.4(TJP2):c.3528C>T (p.Arg1176=) rs147675640 0.00001
NM_004817.4(TJP2):c.3536A>C (p.Tyr1179Ser) rs765987734 0.00001
NM_004817.4(TJP2):c.356C>A (p.Pro119His) rs1381055371 0.00001
NM_004817.4(TJP2):c.413G>A (p.Arg138Gln) rs764394462 0.00001
NM_004817.4(TJP2):c.499C>T (p.Arg167Cys) rs967520708 0.00001
NM_004817.4(TJP2):c.49G>C (p.Gly17Arg) rs1824901947 0.00001
NM_004817.4(TJP2):c.568G>A (p.Asp190Asn) rs886043873 0.00001
NM_004817.4(TJP2):c.607C>T (p.Arg203Trp) rs781732191 0.00001
NM_004817.4(TJP2):c.608G>A (p.Arg203Gln) rs1355001907 0.00001
NM_004817.4(TJP2):c.61-7267A>G rs896087137 0.00001
NM_004817.4(TJP2):c.61-7308C>A rs1240349749 0.00001
NM_004817.4(TJP2):c.629C>G (p.Ala210Gly) rs773909292 0.00001
NM_004817.4(TJP2):c.812G>A (p.Arg271His) rs377314831 0.00001
NM_004817.4(TJP2):c.853C>T (p.Arg285Cys) rs546327568 0.00001
NM_004817.4(TJP2):c.896C>A (p.Pro299His) rs545729848 0.00001
NM_004817.4(TJP2):c.952+3A>G rs1189567891 0.00001
NM_004817.4(TJP2):c.966G>T (p.Arg322=) rs199857597 0.00001
NM_004817.4(TJP2):c.984C>T (p.Phe328=) rs1829255885 0.00001
GRCh37/hg19 9q21.11(chr9:71741320-71746253)x0
GRCh37/hg19 9q21.11(chr9:71806129-71893866)x1
NM_004817.4(TJP2):c.*6T>C rs1563967143
NM_004817.4(TJP2):c.1001G>A (p.Arg334Gln)
NM_004817.4(TJP2):c.1001del (p.Arg334fs) rs786205659
NM_004817.4(TJP2):c.1022A>G (p.Asp341Gly)
NM_004817.4(TJP2):c.1052T>A (p.Leu351His) rs1563931638
NM_004817.4(TJP2):c.1056+11G>T rs373150693
NM_004817.4(TJP2):c.1056+9A>C
NM_004817.4(TJP2):c.1057-9T>A rs1554662271
NM_004817.4(TJP2):c.1090A>G (p.Thr364Ala)
NM_004817.4(TJP2):c.1139T>C (p.Val380Ala)
NM_004817.4(TJP2):c.1141G>A (p.Val381Met) rs2133314809
NM_004817.4(TJP2):c.1142T>A (p.Val381Glu) rs1406324831
NM_004817.4(TJP2):c.115-10T>C rs1563919728
NM_004817.4(TJP2):c.115-304G>A rs79422901
NM_004817.4(TJP2):c.115-7T>C rs1563919731
NM_004817.4(TJP2):c.1202A>G (p.Glu401Gly) rs1057515614
NM_004817.4(TJP2):c.1211-16T>G
NM_004817.4(TJP2):c.1211-18T>A
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004817.4(TJP2):c.122A>G (p.Lys41Arg) rs1554659207
NM_004817.4(TJP2):c.1265A>G (p.Gln422Arg) rs144928091
NM_004817.4(TJP2):c.1273GATTAT[1] (p.425DY[1]) rs1233134698
NM_004817.4(TJP2):c.1290_1292del (p.Ser432del) rs780493380
NM_004817.4(TJP2):c.1319G>C (p.Ser440Thr)
NM_004817.4(TJP2):c.1320-18G>A
NM_004817.4(TJP2):c.1320-1G>A
NM_004817.4(TJP2):c.1337C>A (p.Pro446Gln) rs150193775
NM_004817.4(TJP2):c.1338G>A (p.Pro446=)
NM_004817.4(TJP2):c.1360G>A (p.Ala454Thr)
NM_004817.4(TJP2):c.1362G>A (p.Ala454=)
NM_004817.4(TJP2):c.1367C>A (p.Pro456His)
NM_004817.4(TJP2):c.142G>A (p.Val48Met) rs769217430
NM_004817.4(TJP2):c.1430C>A (p.Pro477His) rs1310545927
NM_004817.4(TJP2):c.1433G>C (p.Arg478Thr) rs760992953
NM_004817.4(TJP2):c.1438_1454del (p.Gln480fs) rs1829487527
NM_004817.4(TJP2):c.1443G>A (p.Glu481=)
NM_004817.4(TJP2):c.1444del (p.Asp482fs) rs727503479
NM_004817.4(TJP2):c.1451del (p.Pro484fs) rs1554662952
NM_004817.4(TJP2):c.1453+16C>T
NM_004817.4(TJP2):c.1453+17A>C
NM_004817.4(TJP2):c.1454-6C>T rs1554663268
NM_004817.4(TJP2):c.1462C>A (p.Pro488Thr) rs1554663279
NM_004817.4(TJP2):c.147C>T (p.Ser49=)
NM_004817.4(TJP2):c.1499C>T (p.Pro500Leu)
NM_004817.4(TJP2):c.1501G>A (p.Glu501Lys) rs747100913
NM_004817.4(TJP2):c.1520+12C>T
NM_004817.4(TJP2):c.1520+19C>G
NM_004817.4(TJP2):c.1520+21_1520+22del
NM_004817.4(TJP2):c.1520+6T>C rs886044597
NM_004817.4(TJP2):c.1521-2_1521-1insTAA
NM_004817.4(TJP2):c.1521-7A>C rs373242928
NM_004817.4(TJP2):c.1521-7A>G rs373242928
NM_004817.4(TJP2):c.1567C>G (p.Leu523Val) rs2133343173
NM_004817.4(TJP2):c.1585A>G (p.Asn529Asp) rs1016967366
NM_004817.4(TJP2):c.1624A>T (p.Thr542Ser)
NM_004817.4(TJP2):c.1671+8C>T rs1563937977
NM_004817.4(TJP2):c.1672-17T>G
NM_004817.4(TJP2):c.1672-183C>G rs12551566
NM_004817.4(TJP2):c.1672-27del rs202100183
NM_004817.4(TJP2):c.1672-28_1672-27dup rs202100183
NM_004817.4(TJP2):c.1672-67_1672-66dup rs202132958
NM_004817.4(TJP2):c.1672-68TTTC[6] rs548512481
NM_004817.4(TJP2):c.1672-68TTTC[8] rs548512481
NM_004817.4(TJP2):c.1672-68TTTC[9] rs548512481
NM_004817.4(TJP2):c.1697T>A (p.Leu566Ter) rs886042381
NM_004817.4(TJP2):c.1713C>A (p.Ala571=) rs376280878
NM_004817.4(TJP2):c.1776C>T (p.Ala592=)
NM_004817.4(TJP2):c.1777G>T (p.Asp593Tyr)
NM_004817.4(TJP2):c.1780+1G>T rs1554664852
NM_004817.4(TJP2):c.1780+303C>T rs10867187
NM_004817.4(TJP2):c.1780+6C>A
NM_004817.4(TJP2):c.1781-19C>T
NM_004817.4(TJP2):c.1794C>T (p.Ile598=)
NM_004817.4(TJP2):c.1820T>G (p.Phe607Cys)
NM_004817.4(TJP2):c.1825A>G (p.Ile609Val)
NM_004817.4(TJP2):c.1880del (p.Arg627fs)
NM_004817.4(TJP2):c.1885G>A (p.Glu629Lys) rs1563945390
NM_004817.4(TJP2):c.1885dup (p.Glu629fs) rs1830170589
NM_004817.4(TJP2):c.1886_1900del (p.Glu629_Val633del) rs1554665383
NM_004817.4(TJP2):c.1909C>T (p.Leu637=) rs768326584
NM_004817.4(TJP2):c.1923G>C (p.Lys641Asn) rs530082663
NM_004817.4(TJP2):c.1929C>T (p.Gly643=)
NM_004817.4(TJP2):c.194T>C (p.Val65Ala)
NM_004817.4(TJP2):c.1991+12C>T
NM_004817.4(TJP2):c.1992-15G>A
NM_004817.4(TJP2):c.1992-16del
NM_004817.4(TJP2):c.1992-2A>G rs587777521
NM_004817.4(TJP2):c.2016A>G (p.Gln672=)
NM_004817.4(TJP2):c.2027G>C (p.Arg676Thr)
NM_004817.4(TJP2):c.2036C>G (p.Ala679Gly)
NM_004817.4(TJP2):c.205G>A (p.Val69Met)
NM_004817.4(TJP2):c.2065C>T (p.Arg689Cys)
NM_004817.4(TJP2):c.2083G>T (p.Val695Leu)
NM_004817.4(TJP2):c.2115C>A (p.Asp705Glu) rs2133388522
NM_004817.4(TJP2):c.2179G>C (p.Ala727Pro) rs1563946936
NM_004817.4(TJP2):c.2180-275_2180-274insGTAGGAGGATCGCTTGAG rs11272756
NM_004817.4(TJP2):c.2181T>C (p.Ala727=)
NM_004817.4(TJP2):c.2208C>T (p.Phe736=)
NM_004817.4(TJP2):c.220C>T (p.Pro74Ser)
NM_004817.4(TJP2):c.2230A>G (p.Met744Val) rs749647498
NM_004817.4(TJP2):c.2275+24dup rs749189119
NM_004817.4(TJP2):c.2276-20T>G
NM_004817.4(TJP2):c.229G>A (p.Gly77Arg) rs1563919994
NM_004817.4(TJP2):c.2323C>T (p.Arg775Trp)
NM_004817.4(TJP2):c.2345T>C (p.Ile782Thr)
NM_004817.4(TJP2):c.2353C>T (p.Gln785Ter) rs1563948951
NM_004817.4(TJP2):c.2355+14T>A
NM_004817.4(TJP2):c.2355+1G>T rs1830381101
NM_004817.4(TJP2):c.2356-115AAAC[3] rs56355642
NM_004817.4(TJP2):c.239+12C>G
NM_004817.4(TJP2):c.239+14del rs764370644
NM_004817.4(TJP2):c.2395G>A (p.Asp799Asn)
NM_004817.4(TJP2):c.2415G>T (p.Gln805His)
NM_004817.4(TJP2):c.2426T>C (p.Ile809Thr)
NM_004817.4(TJP2):c.2434T>G (p.Phe812Val)
NM_004817.4(TJP2):c.2450C>G (p.Ser817Cys) rs1554666481
NM_004817.4(TJP2):c.2451C>T (p.Ser817=)
NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter) rs746830415
NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter) rs1830481830
NM_004817.4(TJP2):c.2546C>G (p.Thr849Arg) rs763461861
NM_004817.4(TJP2):c.2553A>C (p.Ala851=) rs763701380
NM_004817.4(TJP2):c.2566+59G>A rs7035000
NM_004817.4(TJP2):c.2567-4A>G rs371917205
NM_004817.4(TJP2):c.2572A>G (p.Ile858Val)
NM_004817.4(TJP2):c.2584T>C (p.Ser862Pro)
NM_004817.4(TJP2):c.258C>G (p.Val86=)
NM_004817.4(TJP2):c.258C>T (p.Val86=) rs530810462
NM_004817.4(TJP2):c.2632C>T (p.Gln878Ter) rs1554667607
NM_004817.4(TJP2):c.2645C>A (p.Ala882Glu) rs1014295697
NM_004817.4(TJP2):c.2645C>T (p.Ala882Val) rs1014295697
NM_004817.4(TJP2):c.2653G>A (p.Val885Ile)
NM_004817.4(TJP2):c.2668-111C>A rs41308892
NM_004817.4(TJP2):c.2668-12A>G
NM_004817.4(TJP2):c.2668-15C>T
NM_004817.4(TJP2):c.2706C>G (p.Ser902=)
NM_004817.4(TJP2):c.2716G>A (p.Ala906Thr) rs894332443
NM_004817.4(TJP2):c.274C>G (p.Pro92Ala) rs1563921627
NM_004817.4(TJP2):c.2819C>T (p.Pro940Leu) rs199852211
NM_004817.4(TJP2):c.2845A>G (p.Ile949Val)
NM_004817.4(TJP2):c.2866G>C (p.Val956Leu)
NM_004817.4(TJP2):c.2869C>T (p.Gln957Ter)
NM_004817.4(TJP2):c.2874C>T (p.His958=)
NM_004817.4(TJP2):c.2880+105G>A rs536733607
NM_004817.4(TJP2):c.2880+15G>T
NM_004817.4(TJP2):c.2880+3GAGGC[3]
NM_004817.4(TJP2):c.2880+4A>G rs727505327
NM_004817.4(TJP2):c.2880+5G>A rs1563959639
NM_004817.4(TJP2):c.2880+80G>T rs769729938
NM_004817.4(TJP2):c.2881-2A>G
NM_004817.4(TJP2):c.2884A>C (p.Ile962Leu)
NM_004817.4(TJP2):c.2885del (p.Ile962fs)
NM_004817.4(TJP2):c.288G>A (p.Val96=) rs2133251607
NM_004817.4(TJP2):c.2948G>A (p.Arg983Lys) rs762069397
NM_004817.4(TJP2):c.2962C>T (p.Pro988Ser) rs752183947
NM_004817.4(TJP2):c.2963C>T (p.Pro988Leu) rs886043808
NM_004817.4(TJP2):c.2979A>T (p.Pro993=)
NM_004817.4(TJP2):c.2984C>T (p.Pro995Leu)
NM_004817.4(TJP2):c.2991+17_2991+30del
NM_004817.4(TJP2):c.2991+18_2991+31del
NM_004817.4(TJP2):c.2991+1_2991+2dup rs2133478687
NM_004817.4(TJP2):c.2991+20A>G
NM_004817.4(TJP2):c.2992-5C>T
NM_004817.4(TJP2):c.3067_3068delinsTT (p.Ala1023Phe) rs1554668727
NM_004817.4(TJP2):c.3104A>C (p.Tyr1035Ser) rs1220682051
NM_004817.4(TJP2):c.3138del (p.Arg1047fs) rs1563962994
NM_004817.4(TJP2):c.3140G>A (p.Arg1047Gln) rs191327525
NM_004817.4(TJP2):c.3141G>T (p.Arg1047=)
NM_004817.4(TJP2):c.3152A>T (p.Lys1051Met) rs1284322615
NM_004817.4(TJP2):c.3182G>T (p.Gly1061Val)
NM_004817.4(TJP2):c.3215A>G (p.Asp1072Gly)
NM_004817.4(TJP2):c.3238G>A (p.Gly1080Ser)
NM_004817.4(TJP2):c.3243A>T (p.Lys1081Asn)
NM_004817.4(TJP2):c.3277A>G (p.Arg1093Gly)
NM_004817.4(TJP2):c.3296A>C (p.Glu1099Ala)
NM_004817.4(TJP2):c.3321+162C>T rs2282334
NM_004817.4(TJP2):c.3325G>A (p.Glu1109Lys) rs1225374015
NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter) rs1225374015
NM_004817.4(TJP2):c.333C>T (p.Val111=) rs1428978435
NM_004817.4(TJP2):c.3376_3387del (p.Lys1126_Pro1129del) rs1563965205
NM_004817.4(TJP2):c.3393G>A (p.Thr1131=)
NM_004817.4(TJP2):c.3404C>T (p.Thr1135Met)
NM_004817.4(TJP2):c.3408-12T>A
NM_004817.4(TJP2):c.3408-17C>T
NM_004817.4(TJP2):c.3408-6del rs778863371
NM_004817.4(TJP2):c.3415C>T (p.Pro1139Ser) rs371868714
NM_004817.4(TJP2):c.342+16G>A
NM_004817.4(TJP2):c.343-28G>A rs41305541
NM_004817.4(TJP2):c.3432A>G (p.Lys1144=) rs886044296
NM_004817.4(TJP2):c.3450T>C (p.Tyr1150=) rs779575464
NM_004817.4(TJP2):c.3463G>C (p.Gly1155Arg) rs200425899
NM_004817.4(TJP2):c.3471T>C (p.Tyr1157=)
NM_004817.4(TJP2):c.3483C>A (p.Ala1161=)
NM_004817.4(TJP2):c.3483C>T (p.Ala1161=) rs199597127
NM_004817.4(TJP2):c.3527G>A (p.Arg1176His)
NM_004817.4(TJP2):c.3549C>T (p.Ala1183=)
NM_004817.4(TJP2):c.3551G>A (p.Arg1184Gln)
NM_004817.4(TJP2):c.3556C>G (p.Arg1186Gly) rs112109886
NM_004817.4(TJP2):c.356C>T (p.Pro119Leu) rs1381055371
NM_004817.4(TJP2):c.395C>G (p.Pro132Arg) rs141496493
NM_004817.4(TJP2):c.410A>T (p.Asp137Val) rs886043413
NM_004817.4(TJP2):c.432C>G (p.Asp144Glu)
NM_004817.4(TJP2):c.440A>G (p.Asp147Gly) rs751419583
NM_004817.4(TJP2):c.454C>T (p.Arg152Trp)
NM_004817.4(TJP2):c.464_473del (p.Gly154_Tyr155insTer) rs2133270267
NM_004817.4(TJP2):c.474G>A (p.Arg158=) rs1554660381
NM_004817.4(TJP2):c.490C>T (p.His164Tyr)
NM_004817.4(TJP2):c.494G>C (p.Gly165Ala)
NM_004817.4(TJP2):c.498dup (p.Arg167fs) rs781334233
NM_004817.4(TJP2):c.4_11dup (p.Gly5fs)
NM_004817.4(TJP2):c.520A>G (p.Ser174Gly)
NM_004817.4(TJP2):c.547C>A (p.Arg183=)
NM_004817.4(TJP2):c.559C>G (p.Arg187Gly)
NM_004817.4(TJP2):c.566G>A (p.Arg189Gln)
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs) rs886041948
NM_004817.4(TJP2):c.577C>A (p.Arg193=) rs200390074
NM_004817.4(TJP2):c.579_590del (p.Asp194_Arg197del)
NM_004817.4(TJP2):c.590_601del (p.Arg197_Ser200del) rs749616153
NM_004817.4(TJP2):c.599G>T (p.Ser200Ile) rs373944275
NM_004817.4(TJP2):c.60+39CGTGAG[3] rs59568063
NM_004817.4(TJP2):c.61-7279del rs1452573962
NM_004817.4(TJP2):c.61-7359A>T rs1563906272
NM_004817.4(TJP2):c.61-7391A>C rs1563906183
NM_004817.4(TJP2):c.619C>T (p.Gln207Ter)
NM_004817.4(TJP2):c.629C>T (p.Ala210Val)
NM_004817.4(TJP2):c.637C>T (p.Arg213Ter)
NM_004817.4(TJP2):c.638G>A (p.Arg213Gln) rs775377668
NM_004817.4(TJP2):c.648C>T (p.Ser216=)
NM_004817.4(TJP2):c.658A>C (p.Ser220Arg)
NM_004817.4(TJP2):c.659G>A (p.Ser220Asn)
NM_004817.4(TJP2):c.673C>A (p.Leu225Met)
NM_004817.4(TJP2):c.679C>T (p.His227Tyr)
NM_004817.4(TJP2):c.699GGACCG[3] (p.234DR[4]) rs778482810
NM_004817.4(TJP2):c.716G>A (p.Arg239His)
NM_004817.4(TJP2):c.720C>A (p.Ser240Arg) rs1828820699
NM_004817.4(TJP2):c.723C>T (p.Arg241=)
NM_004817.4(TJP2):c.745_746delinsAT (p.Tyr249Ile) rs797044757
NM_004817.4(TJP2):c.764G>A (p.Arg255Gln)
NM_004817.4(TJP2):c.766_769del (p.Ala256fs) rs587777518
NM_004817.4(TJP2):c.766del (p.Ala256fs)
NM_004817.4(TJP2):c.782A>G (p.Tyr261Cys)
NM_004817.4(TJP2):c.782del (p.Tyr261fs) rs771690686
NM_004817.4(TJP2):c.817del (p.Ala273fs) rs864321697
NM_004817.4(TJP2):c.81G>A (p.Leu27=)
NM_004817.4(TJP2):c.838C>T (p.Arg280Trp)
NM_004817.4(TJP2):c.839G>T (p.Arg280Leu) rs1354655431
NM_004817.4(TJP2):c.849A>C (p.Arg283=) rs1828839061
NM_004817.4(TJP2):c.84dup (p.Trp29fs) rs1563915664
NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3]) rs760152519
NM_004817.4(TJP2):c.894G>C (p.Glu298Asp)
NM_004817.4(TJP2):c.897T>A (p.Pro299=) rs1563926830
NM_004817.4(TJP2):c.899G>A (p.Arg300Lys) rs762140391
NM_004817.4(TJP2):c.939C>T (p.Ser313=)
NM_004817.4(TJP2):c.945G>A (p.Ala315=)
NM_004817.4(TJP2):c.945G>T (p.Ala315=)
NM_004817.4(TJP2):c.952+1_952+732del
NM_004817.4(TJP2):c.952+74del rs113816166
NM_004817.4(TJP2):c.953-175T>G rs75334488
NM_004817.4(TJP2):c.953-18_953-16delinsATCTCCTAGAGTATGTTTGTCTAGGAGACAAAGTATATACTAGAGTATA rs759354372
NM_004817.4(TJP2):c.953-1G>A
NM_004817.4(TJP2):c.953-9G>T

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