ClinVar Miner

List of variants in gene CC2D2A

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Total variants: 415
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HGVS dbSNP
CC2D2A, 1-BP DEL, 3289G
CC2D2A, 1762C-T
CC2D2A, IVS19DS, G-C, +1
NC_000004.11:g.(?_15480347)_(15482451_?)del
NC_000004.11:g.15589466_15589468delGAA rs794729225
NM_001080522.2(CC2D2A):c.*1T>A rs199945435
NM_001080522.2(CC2D2A):c.*21G>C rs1134634
NM_001080522.2(CC2D2A):c.*45G>C rs372449768
NM_001080522.2(CC2D2A):c.1017+1G>A rs200407856
NM_001080522.2(CC2D2A):c.1017+7G>A rs137919504
NM_001080522.2(CC2D2A):c.1017dup (p.Glu340Argfs) rs797044636
NM_001080522.2(CC2D2A):c.1019A>C (p.Glu340Ala) rs1450279703
NM_001080522.2(CC2D2A):c.1024A>C (p.Arg342=) rs1553827158
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1110G>A (p.Glu370=) rs1289826078
NM_001080522.2(CC2D2A):c.1116C>A (p.Ser372Arg) rs760839591
NM_001080522.2(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095
NM_001080522.2(CC2D2A):c.1140G>A (p.Leu380=)
NM_001080522.2(CC2D2A):c.1149+1G>A rs1553827236
NM_001080522.2(CC2D2A):c.1150-15T>C rs780977948
NM_001080522.2(CC2D2A):c.1162G>A (p.Val388Ile) rs115924432
NM_001080522.2(CC2D2A):c.1222A>G (p.Ile408Val) rs1196012902
NM_001080522.2(CC2D2A):c.1236G>A (p.Gly412=)
NM_001080522.2(CC2D2A):c.1260T>G (p.Cys420Trp)
NM_001080522.2(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA (p.Ser422_Arg423insGlyMetPheTrpGlnArg) rs762998472
NM_001080522.2(CC2D2A):c.1266C>G (p.Ser422Arg) rs1229319521
NM_001080522.2(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121
NM_001080522.2(CC2D2A):c.1297_1299delinsAA (p.Gln433fs) rs1560166511
NM_001080522.2(CC2D2A):c.1324C>T (p.His442Tyr) rs773421101
NM_001080522.2(CC2D2A):c.1339del (p.Ala447fs) rs386833745
NM_001080522.2(CC2D2A):c.1359+10A>G rs373012628
NM_001080522.2(CC2D2A):c.1359+9G>T rs369964702
NM_001080522.2(CC2D2A):c.1360-119C>A
NM_001080522.2(CC2D2A):c.1360-29C>G rs886038408
NM_001080522.2(CC2D2A):c.1370T>A (p.Leu457Ter) rs1131691659
NM_001080522.2(CC2D2A):c.1378G>A (p.Ala460Thr)
NM_001080522.2(CC2D2A):c.1390G>A (p.Gly464Ser) rs1399985089
NM_001080522.2(CC2D2A):c.1392C>A (p.Gly464=)
NM_001080522.2(CC2D2A):c.1401A>C (p.Pro467=) rs886059136
NM_001080522.2(CC2D2A):c.1418C>T (p.Ser473Phe) rs373177807
NM_001080522.2(CC2D2A):c.1467-170C>T
NM_001080522.2(CC2D2A):c.1468C>T (p.Gln490Ter) rs1288358527
NM_001080522.2(CC2D2A):c.1484G>A (p.Arg495His) rs373906628
NM_001080522.2(CC2D2A):c.1497A>G (p.Gln499=)
NM_001080522.2(CC2D2A):c.1503_1505del (p.Lys501_Asp502delinsAsn) rs863225177
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.1533A>T (p.Lys511Asn)
NM_001080522.2(CC2D2A):c.1537T>A (p.Trp513Arg) rs386833746
NM_001080522.2(CC2D2A):c.1546A>G (p.Met516Val)
NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161
NM_001080522.2(CC2D2A):c.1598T>C (p.Val533Ala) rs777351655
NM_001080522.2(CC2D2A):c.1666del (p.Glu555_Ile556insTer) rs773740057
NM_001080522.2(CC2D2A):c.1676T>C (p.Leu559Pro) rs754221308
NM_001080522.2(CC2D2A):c.1689C>T (p.His563=) rs755367503
NM_001080522.2(CC2D2A):c.1691C>T (p.Thr564Met) rs201954181
NM_001080522.2(CC2D2A):c.1696G>T (p.Glu566Ter)
NM_001080522.2(CC2D2A):c.1713G>A (p.Met571Ile) rs886059137
NM_001080522.2(CC2D2A):c.1720T>A (p.Tyr574Asn) rs768277071
NM_001080522.2(CC2D2A):c.1731G>A (p.Ser577=) rs376746356
NM_001080522.2(CC2D2A):c.1764+45T>G rs1558572
NM_001080522.2(CC2D2A):c.1765-24A>G rs1861044
NM_001080522.2(CC2D2A):c.1773_1775GAA[2] (p.Lys594del) rs886044115
NM_001080522.2(CC2D2A):c.1780A>G (p.Lys594Glu) rs764556903
NM_001080522.2(CC2D2A):c.1817A>T (p.Glu606Val) rs747187783
NM_001080522.2(CC2D2A):c.1821T>C (p.Ile607=) rs373296447
NM_001080522.2(CC2D2A):c.1827G>A (p.Glu609=) rs886059138
NM_001080522.2(CC2D2A):c.1829C>T (p.Pro610Leu) rs376457814
NM_001080522.2(CC2D2A):c.1830G>A (p.Pro610=) rs185072004
NM_001080522.2(CC2D2A):c.1836C>T (p.Pro612=) rs763567590
NM_001080522.2(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617
NM_001080522.2(CC2D2A):c.1846C>G (p.Leu616Val) rs1560171700
NM_001080522.2(CC2D2A):c.1866A>C (p.Pro622=) rs1560171734
NM_001080522.2(CC2D2A):c.1880G>A (p.Arg627Gln) rs752576142
NM_001080522.2(CC2D2A):c.1899G>C (p.Glu633Asp) rs886042809
NM_001080522.2(CC2D2A):c.1932G>T (p.Arg644Ser) rs1560171818
NM_001080522.2(CC2D2A):c.1946C>G (p.Thr649Arg) rs201884883
NM_001080522.2(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001080522.2(CC2D2A):c.1947G>A (p.Thr649=) rs756341605
NM_001080522.2(CC2D2A):c.1952T>A (p.Val651Asp)
NM_001080522.2(CC2D2A):c.1953C>T (p.Val651=) rs550913315
NM_001080522.2(CC2D2A):c.1956G>A (p.Pro652=) rs375131519
NM_001080522.2(CC2D2A):c.1965C>G (p.Ser655Arg)
NM_001080522.2(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2003+19C>T rs17476642
NM_001080522.2(CC2D2A):c.2004-263A>G
NM_001080522.2(CC2D2A):c.2007G>A (p.Ala669=) rs376644970
NM_001080522.2(CC2D2A):c.2016G>A (p.Ser672=)
NM_001080522.2(CC2D2A):c.2039G>A (p.Arg680His) rs200236654
NM_001080522.2(CC2D2A):c.2050T>A (p.Leu684Ile) rs190698163
NM_001080522.2(CC2D2A):c.2053A>G (p.Lys685Glu)
NM_001080522.2(CC2D2A):c.2056G>A (p.Val686Met) rs369476930
NM_001080522.2(CC2D2A):c.2061G>A (p.Leu687=) rs182372139
NM_001080522.2(CC2D2A):c.2083A>C (p.Arg695=) rs750219979
NM_001080522.2(CC2D2A):c.2090T>C (p.Val697Ala)
NM_001080522.2(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727
NM_001080522.2(CC2D2A):c.2133G>C (p.Gln711His) rs886059139
NM_001080522.2(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782
NM_001080522.2(CC2D2A):c.2163G>A (p.Pro721=) rs768337150
NM_001080522.2(CC2D2A):c.2181+7A>C rs143681243
NM_001080522.2(CC2D2A):c.2182-249T>C
NM_001080522.2(CC2D2A):c.2182-24C>T rs2041673
NM_001080522.2(CC2D2A):c.2182-3C>T rs1560177957
NM_001080522.2(CC2D2A):c.2182-9_2182-8delinsAA rs1560177950
NM_001080522.2(CC2D2A):c.2196C>T (p.Val732=)
NM_001080522.2(CC2D2A):c.2197G>A (p.Gly733Arg) rs372259202
NM_001080522.2(CC2D2A):c.2209C>A (p.Pro737Thr) rs1560177991
NM_001080522.2(CC2D2A):c.2251A>G (p.Thr751Ala) rs942868342
NM_001080522.2(CC2D2A):c.2270C>A (p.Ala757Asp)
NM_001080522.2(CC2D2A):c.2319C>T (p.Asp773=) rs1379770755
NM_001080522.2(CC2D2A):c.2323G>A (p.Glu775Lys) rs751808973
NM_001080522.2(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366
NM_001080522.2(CC2D2A):c.2339-10_2339-9delGT rs886059157
NM_001080522.2(CC2D2A):c.2385G>C (p.Leu795=) rs754272410
NM_001080522.2(CC2D2A):c.2387T>G (p.Met796Arg) rs367560550
NM_001080522.2(CC2D2A):c.2400A>G (p.Lys800=) rs371834330
NM_001080522.2(CC2D2A):c.2417C>T (p.Ala806Val) rs769808709
NM_001080522.2(CC2D2A):c.2437G>A (p.Gly813Arg)
NM_001080522.2(CC2D2A):c.247+448G>A rs1064797307
NM_001080522.2(CC2D2A):c.247+639G>A
NM_001080522.2(CC2D2A):c.2475C>T (p.Ile825=) rs113835820
NM_001080522.2(CC2D2A):c.2482C>T (p.Arg828Trp) rs749997192
NM_001080522.2(CC2D2A):c.2483G>A (p.Arg828Gln) rs375243763
NM_001080522.2(CC2D2A):c.2486+1G>C rs386833747
NM_001080522.2(CC2D2A):c.2486+8A>G rs749186859
NM_001080522.2(CC2D2A):c.2486+9T>C rs768382177
NM_001080522.2(CC2D2A):c.2487-292A>G
NM_001080522.2(CC2D2A):c.2501C>A (p.Ala834Glu) rs1560180119
NM_001080522.2(CC2D2A):c.2519T>C (p.Ile840Thr) rs373111926
NM_001080522.2(CC2D2A):c.2526A>G (p.Thr842=) rs886059158
NM_001080522.2(CC2D2A):c.2542A>C (p.Met848Leu) rs376403848
NM_001080522.2(CC2D2A):c.2560T>G (p.Trp854Gly)
NM_001080522.2(CC2D2A):c.2561G>A (p.Trp854Ter) rs1560180188
NM_001080522.2(CC2D2A):c.2595C>T (p.Pro865=) rs770469717
NM_001080522.2(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573
NM_001080522.2(CC2D2A):c.2624C>A (p.Ser875Ter) rs200904521
NM_001080522.2(CC2D2A):c.2624C>T (p.Ser875Leu) rs200904521
NM_001080522.2(CC2D2A):c.2625+1G>A
NM_001080522.2(CC2D2A):c.2653C>A (p.Pro885Thr) rs1560181421
NM_001080522.2(CC2D2A):c.2653C>T (p.Pro885Ser) rs1560181421
NM_001080522.2(CC2D2A):c.2671G>A (p.Glu891Lys) rs863225178
NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001080522.2(CC2D2A):c.2687A>C (p.Glu896Ala) rs1553838206
NM_001080522.2(CC2D2A):c.2728C>A (p.Arg910=) rs781206278
NM_001080522.2(CC2D2A):c.2731T>C (p.Phe911Leu) rs368886216
NM_001080522.2(CC2D2A):c.2734A>G (p.Arg912Gly) rs574421639
NM_001080522.2(CC2D2A):c.274A>G (p.Arg92Gly) rs886043867
NM_001080522.2(CC2D2A):c.2773C>T (p.Arg925Ter) rs386833748
NM_001080522.2(CC2D2A):c.2774G>A (p.Arg925Gln) rs200707391
NM_001080522.2(CC2D2A):c.2780A>C (p.Tyr927Ser) rs915290953
NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641
NM_001080522.2(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537
NM_001080522.2(CC2D2A):c.2829+9C>T rs1009676697
NM_001080522.2(CC2D2A):c.2830-38G>T rs35309200
NM_001080522.2(CC2D2A):c.2844G>A (p.Arg948=) rs182369056
NM_001080522.2(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053
NM_001080522.2(CC2D2A):c.286G>A (p.Ala96Thr) rs376438052
NM_001080522.2(CC2D2A):c.2885A>G (p.Asp962Gly) rs201631131
NM_001080522.2(CC2D2A):c.2891A>G (p.His964Arg) rs1273769297
NM_001080522.2(CC2D2A):c.2900T>C (p.Ile967Thr) rs794727374
NM_001080522.2(CC2D2A):c.2922+10dup rs752271495
NM_001080522.2(CC2D2A):c.2922+212C>A
NM_001080522.2(CC2D2A):c.2923-141C>T
NM_001080522.2(CC2D2A):c.2924T>A (p.Val975Asp) rs1560183164
NM_001080522.2(CC2D2A):c.2940A>C (p.Ile980=) rs1560183177
NM_001080522.2(CC2D2A):c.2945G>A (p.Arg982His) rs150093365
NM_001080522.2(CC2D2A):c.2993_2995AAG[2] (p.Glu1000del) rs764874938
NM_001080522.2(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370
NM_001080522.2(CC2D2A):c.3008A>G (p.Asn1003Ser) rs376663620
NM_001080522.2(CC2D2A):c.3014+4A>C rs748451478
NM_001080522.2(CC2D2A):c.3020T>C (p.Leu1007Ser) rs1553839640
NM_001080522.2(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465
NM_001080522.2(CC2D2A):c.3054G>A (p.Lys1018=) rs377575861
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.305G>A (p.Gly102Glu)
NM_001080522.2(CC2D2A):c.3072G>A (p.Arg1024=) rs886044669
NM_001080522.2(CC2D2A):c.3076A>G (p.Lys1026Glu) rs759702917
NM_001080522.2(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001080522.2(CC2D2A):c.3113A>T (p.Asp1038Val) rs376913682
NM_001080522.2(CC2D2A):c.3122_3123del (p.Ile1041fs) rs1560184664
NM_001080522.2(CC2D2A):c.3134T>C (p.Val1045Ala) rs863225173
NM_001080522.2(CC2D2A):c.3135G>A (p.Val1045=) rs371608031
NM_001080522.2(CC2D2A):c.3141T>C (p.Ile1047=) rs1553839718
NM_001080522.2(CC2D2A):c.3145C>A (p.Arg1049=) rs386833750
NM_001080522.2(CC2D2A):c.3145C>G (p.Arg1049Gly) rs386833750
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001080522.2(CC2D2A):c.3154G>A (p.Asp1052Asn)
NM_001080522.2(CC2D2A):c.3157A>G (p.Ile1053Val)
NM_001080522.2(CC2D2A):c.3176C>A (p.Ala1059Glu)
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001080522.2(CC2D2A):c.3198G>A (p.Pro1066=)
NM_001080522.2(CC2D2A):c.3200C>T (p.Ser1067Leu) rs886059181
NM_001080522.2(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627
NM_001080522.2(CC2D2A):c.3228G>A (p.Lys1076=) rs774427183
NM_001080522.2(CC2D2A):c.3250T>A (p.Tyr1084Asn) rs751234041
NM_001080522.2(CC2D2A):c.3258A>C (p.Pro1086=) rs1560186736
NM_001080522.2(CC2D2A):c.3280C>G (p.Leu1094Val)
NM_001080522.2(CC2D2A):c.3288+25T>C rs73125629
NM_001080522.2(CC2D2A):c.3288+3G>A
NM_001080522.2(CC2D2A):c.3288+41A>C rs13116304
NM_001080522.2(CC2D2A):c.3288G>C (p.Gln1096His) rs863225169
NM_001080522.2(CC2D2A):c.3289-2del
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3320T>G (p.Phe1107Cys) rs886041156
NM_001080522.2(CC2D2A):c.332C>T (p.Ala111Val) rs137878385
NM_001080522.2(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752
NM_001080522.2(CC2D2A):c.3347C>T (p.Thr1116Met) rs267606709
NM_001080522.2(CC2D2A):c.336+32T>C rs201288603
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001080522.2(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001080522.2(CC2D2A):c.3368G>A (p.Ser1123Asn) rs377404804
NM_001080522.2(CC2D2A):c.3398+13T>C rs886059183
NM_001080522.2(CC2D2A):c.3398+7A>G rs772784324
NM_001080522.2(CC2D2A):c.3399-15T>C rs181612746
NM_001080522.2(CC2D2A):c.3399-3C>A rs386833753
NM_001080522.2(CC2D2A):c.3417T>C (p.Tyr1139=)
NM_001080522.2(CC2D2A):c.3452T>C (p.Val1151Ala) rs863225170
NM_001080522.2(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973
NM_001080522.2(CC2D2A):c.3495G>A (p.Glu1165=)
NM_001080522.2(CC2D2A):c.3499G>A (p.Asp1167Asn) rs371998498
NM_001080522.2(CC2D2A):c.3501C>T (p.Asp1167=) rs779304750
NM_001080522.2(CC2D2A):c.3502C>T (p.Arg1168Cys) rs746694614
NM_001080522.2(CC2D2A):c.3503G>A (p.Arg1168His)
NM_001080522.2(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948
NM_001080522.2(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635
NM_001080522.2(CC2D2A):c.3522_3523insTG (p.His1175fs) rs386833754
NM_001080522.2(CC2D2A):c.3524A>G (p.His1175Arg) rs886059184
NM_001080522.2(CC2D2A):c.3529C>T (p.Arg1177Cys) rs371561652
NM_001080522.2(CC2D2A):c.3536A>T (p.Glu1179Val) rs1560188280
NM_001080522.2(CC2D2A):c.3544T>C (p.Trp1182Arg) rs386833755
NM_001080522.2(CC2D2A):c.3545G>A (p.Trp1182Ter) rs1560188288
NM_001080522.2(CC2D2A):c.355T>C (p.Leu119=) rs202150325
NM_001080522.2(CC2D2A):c.3567A>G (p.Pro1189=) rs1553841140
NM_001080522.2(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842
NM_001080522.2(CC2D2A):c.3584del (p.Phe1195fs) rs386833756
NM_001080522.2(CC2D2A):c.3588del (p.Ala1197fs) rs982352950
NM_001080522.2(CC2D2A):c.3594+5G>A rs863225181
NM_001080522.2(CC2D2A):c.3594+8T>C rs886038409
NM_001080522.2(CC2D2A):c.3595-22C>T rs4280724
NM_001080522.2(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829
NM_001080522.2(CC2D2A):c.3617A>G (p.Asp1206Gly) rs1560189957
NM_001080522.2(CC2D2A):c.3618T>A (p.Asp1206Glu)
NM_001080522.2(CC2D2A):c.3643A>G (p.Ser1215Gly) rs765661601
NM_001080522.2(CC2D2A):c.3652C>A (p.Arg1218=)
NM_001080522.2(CC2D2A):c.3652C>T (p.Arg1218Ter) rs375278294
NM_001080522.2(CC2D2A):c.3670C>T (p.Arg1224Trp) rs369648324
NM_001080522.2(CC2D2A):c.3689G>A (p.Arg1230Gln) rs778082588
NM_001080522.2(CC2D2A):c.3736C>T (p.Pro1246Ser) rs1318619045
NM_001080522.2(CC2D2A):c.3744G>T (p.Leu1248=) rs755747140
NM_001080522.2(CC2D2A):c.3744_3747dup (p.Pro1250fs) rs863225171
NM_001080522.2(CC2D2A):c.3751G>A (p.Gly1251Arg)
NM_001080522.2(CC2D2A):c.3771+1G>C rs1560190091
NM_001080522.2(CC2D2A):c.3772-1G>T rs863225172
NM_001080522.2(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001080522.2(CC2D2A):c.3779C>T (p.Ser1260Phe) rs759726075
NM_001080522.2(CC2D2A):c.380G>A (p.Arg127Gln) rs748886997
NM_001080522.2(CC2D2A):c.3841T>C (p.Phe1281Leu) rs1560192615
NM_001080522.2(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129
NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys) rs779823379
NM_001080522.2(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832
NM_001080522.2(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044
NM_001080522.2(CC2D2A):c.3880A>C (p.Ser1294Arg) rs1064795568
NM_001080522.2(CC2D2A):c.3883G>A (p.Gly1295Arg) rs763466980
NM_001080522.2(CC2D2A):c.388C>T (p.Arg130Cys) rs886042463
NM_001080522.2(CC2D2A):c.3892_3893del (p.Val1298fs) rs763735590
NM_001080522.2(CC2D2A):c.3893T>A (p.Val1298Asp) rs386833758
NM_001080522.2(CC2D2A):c.389G>A (p.Arg130His)
NM_001080522.2(CC2D2A):c.389G>T (p.Arg130Leu) rs778519147
NM_001080522.2(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061
NM_001080522.2(CC2D2A):c.395G>A (p.Arg132Gln) rs772016081
NM_001080522.2(CC2D2A):c.3975+2dup rs1560192764
NM_001080522.2(CC2D2A):c.3975+4_3975+7delAGTA rs386833759
NM_001080522.2(CC2D2A):c.3976-18C>G rs375782772
NM_001080522.2(CC2D2A):c.3976-3C>A rs576298659
NM_001080522.2(CC2D2A):c.3985G>C (p.Ala1329Pro) rs951039594
NM_001080522.2(CC2D2A):c.3988C>T (p.Arg1330Ter) rs758036385
NM_001080522.2(CC2D2A):c.3989G>A (p.Arg1330Gln) rs763486732
NM_001080522.2(CC2D2A):c.4005T>A (p.Ile1335=) rs199688524
NM_001080522.2(CC2D2A):c.4019_4020AC[1] (p.Thr1341fs)
NM_001080522.2(CC2D2A):c.4065+28A>T rs6832789
NM_001080522.2(CC2D2A):c.4065+2T>C rs1179041639
NM_001080522.2(CC2D2A):c.4065+9T>C rs748709735
NM_001080522.2(CC2D2A):c.4066-94C>T
NM_001080522.2(CC2D2A):c.4084dup (p.Ala1362fs)
NM_001080522.2(CC2D2A):c.4098A>C (p.Glu1366Asp) rs557038070
NM_001080522.2(CC2D2A):c.4139G>A (p.Gly1380Asp) rs1271963891
NM_001080522.2(CC2D2A):c.415T>C (p.Leu139=) rs570078140
NM_001080522.2(CC2D2A):c.4179+1G>A rs886044295
NM_001080522.2(CC2D2A):c.4179+1delG rs386833760
NM_001080522.2(CC2D2A):c.4202C>G (p.Thr1401Ser) rs143947747
NM_001080522.2(CC2D2A):c.4226T>C (p.Ile1409Thr) rs863225176
NM_001080522.2(CC2D2A):c.4238G>A (p.Cys1413Tyr) rs146843542
NM_001080522.2(CC2D2A):c.423T>C (p.Thr141=) rs368572539
NM_001080522.2(CC2D2A):c.4289T>C (p.Val1430Ala) rs863225168
NM_001080522.2(CC2D2A):c.4295_4298del (p.Gly1431_Cys1432insTer) rs1560196436
NM_001080522.2(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421
NM_001080522.2(CC2D2A):c.4303G>A (p.Gly1435Ser)
NM_001080522.2(CC2D2A):c.4314+163C>T
NM_001080522.2(CC2D2A):c.4334G>A (p.Arg1445Gln) rs113065116
NM_001080522.2(CC2D2A):c.4340A>C (p.Glu1447Ala) rs387907058
NM_001080522.2(CC2D2A):c.4345C>G (p.Pro1449Ala) rs375410796
NM_001080522.2(CC2D2A):c.438+261T>A
NM_001080522.2(CC2D2A):c.4384T>C (p.Trp1462Arg) rs368720062
NM_001080522.2(CC2D2A):c.438G>A (p.Glu146=) rs1215345163
NM_001080522.2(CC2D2A):c.4396_4400del (p.Phe1466fs) rs1176927796
NM_001080522.2(CC2D2A):c.4407C>G (p.Ser1469Arg) rs587779732
NM_001080522.2(CC2D2A):c.4437+1G>A rs786205568
NM_001080522.2(CC2D2A):c.4437G>C (p.Gln1479His) rs878854168
NM_001080522.2(CC2D2A):c.4438-137T>C
NM_001080522.2(CC2D2A):c.4438-9C>A rs117667651
NM_001080522.2(CC2D2A):c.4438C>T (p.Pro1480Ser) rs794727589
NM_001080522.2(CC2D2A):c.4442A>C (p.Glu1481Ala) rs886059185
NM_001080522.2(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235
NM_001080522.2(CC2D2A):c.4460G>A (p.Arg1487His)
NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001080522.2(CC2D2A):c.4483G>T (p.Glu1495Ter) rs1553845300
NM_001080522.2(CC2D2A):c.4489C>T (p.Gln1497Ter) rs1553845302
NM_001080522.2(CC2D2A):c.4491A>C (p.Gln1497His) rs863225179
NM_001080522.2(CC2D2A):c.4496+2T>A rs386833762
NM_001080522.2(CC2D2A):c.4496+2T>C rs386833762
NM_001080522.2(CC2D2A):c.4497-2A>G rs1553845569
NM_001080522.2(CC2D2A):c.4497G>C (p.Arg1499Ser) rs1482342015
NM_001080522.2(CC2D2A):c.4512A>G (p.Leu1504=)
NM_001080522.2(CC2D2A):c.4533G>C (p.Trp1511Cys) rs777158229
NM_001080522.2(CC2D2A):c.4541G>A (p.Arg1514His)
NM_001080522.2(CC2D2A):c.4550C>G (p.Thr1517Ser) rs780673487
NM_001080522.2(CC2D2A):c.4550C>T (p.Thr1517Ile)
NM_001080522.2(CC2D2A):c.4552C>T (p.Arg1518Trp)
NM_001080522.2(CC2D2A):c.4553G>A (p.Arg1518Gln)
NM_001080522.2(CC2D2A):c.4554G>C (p.Arg1518=) rs755691801
NM_001080522.2(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052
NM_001080522.2(CC2D2A):c.4583G>A (p.Arg1528His)
NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648
NM_001080522.2(CC2D2A):c.4648C>T (p.Leu1550=) rs199861496
NM_001080522.2(CC2D2A):c.4659G>C (p.Gln1553His) rs375083236
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001080522.2(CC2D2A):c.4675-12T>G rs769761582
NM_001080522.2(CC2D2A):c.4675-14T>A rs766203266
NM_001080522.2(CC2D2A):c.4675-87delC
NM_001080522.2(CC2D2A):c.4675-89_4675-88insTT
NM_001080522.2(CC2D2A):c.4682dup (p.Phe1562fs) rs1553845917
NM_001080522.2(CC2D2A):c.4688C>T (p.Pro1563Leu) rs886059186
NM_001080522.2(CC2D2A):c.4726G>C (p.Asp1576His) rs1064794798
NM_001080522.2(CC2D2A):c.4728C>T (p.Asp1576=)
NM_001080522.2(CC2D2A):c.4729G>A (p.Ala1577Thr) rs199695154
NM_001080522.2(CC2D2A):c.4741A>G (p.Thr1581Ala) rs863225174
NM_001080522.2(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700
NM_001080522.2(CC2D2A):c.4815T>C (p.Asn1605=)
NM_001080522.2(CC2D2A):c.4838T>C (p.Val1613Ala) rs769264337
NM_001080522.2(CC2D2A):c.4842_4843CT[1] (p.Ser1615fs) rs863225175
NM_001080522.2(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078
NM_001080522.2(CC2D2A):c.4853G>A (p.Arg1618His)
NM_001080522.2(CC2D2A):c.4858A>C (p.Arg1620=) rs774187754
NM_001080522.2(CC2D2A):c.4863A>T (p.Ter1621Tyr) rs1553845963
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001080522.2(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763
NM_001080522.2(CC2D2A):c.541-20T>G rs114335547
NM_001080522.2(CC2D2A):c.541-25G>T rs16892080
NM_001080522.2(CC2D2A):c.541-5G>A rs369022150
NM_001080522.2(CC2D2A):c.565G>A (p.Glu189Lys) rs1560157691
NM_001080522.2(CC2D2A):c.576T>C (p.Tyr192=) rs536646769
NM_001080522.2(CC2D2A):c.579C>G (p.Asn193Lys)
NM_001080522.2(CC2D2A):c.585_586dup (p.Thr196fs) rs1392635342
NM_001080522.2(CC2D2A):c.603C>T (p.Pro201=) rs556542553
NM_001080522.2(CC2D2A):c.613G>A (p.Gly205Arg) rs147499316
NM_001080522.2(CC2D2A):c.644G>T (p.Arg215Ile) rs756061892
NM_001080522.2(CC2D2A):c.650del (p.Gly217fs)
NM_001080522.2(CC2D2A):c.663_665GGA[2] (p.Glu224del) rs1553825978
NM_001080522.2(CC2D2A):c.676_678GAA[3] (p.Glu229del) rs386833764
NM_001080522.2(CC2D2A):c.717+101C>T
NM_001080522.2(CC2D2A):c.717+11T>C rs184351317
NM_001080522.2(CC2D2A):c.717+12C>T rs776829032
NM_001080522.2(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428
NM_001080522.2(CC2D2A):c.751G>A (p.Glu251Lys)
NM_001080522.2(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001080522.2(CC2D2A):c.777C>T (p.His259=) rs2286976
NM_001080522.2(CC2D2A):c.832C>T (p.Arg278Trp) rs372873919
NM_001080522.2(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_001080522.2(CC2D2A):c.868A>T (p.Ser290Cys) rs1553826739
NM_001080522.2(CC2D2A):c.880+7G>A rs1445614932
NM_001080522.2(CC2D2A):c.880G>C (p.Val294Leu) rs201986486
NM_001080522.2(CC2D2A):c.881-8C>T
NM_001080522.2(CC2D2A):c.891T>C (p.Tyr297=) rs797045438
NM_001080522.2(CC2D2A):c.913C>T (p.Gln305Ter) rs1158349299
NM_001080522.2(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430
NM_001080522.2(CC2D2A):c.949G>A (p.Gly317Arg)
NM_001080522.2(CC2D2A):c.950G>T (p.Gly317Val)
NM_001080522.2(CC2D2A):c.951G>A (p.Gly317=)
NM_001080522.2(CC2D2A):c.964del (p.Val322fs)
NM_001080522.2(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878
NM_001080522.2(CC2D2A):c.971G>A (p.Arg324His) rs113371687
NM_001080522.2(CC2D2A):c.977A>G (p.Asn326Ser) rs1425158863
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
NM_001080522.2:c.2181+7A>C
NM_001080522.2:c.3595-22C>T
NM_020785.2(CC2D2A):c.-212T>C rs886059135
NM_020785.2(CC2D2A):c.-32G>A rs183968785
NM_020785.2(CC2D2A):c.-53+37G>C rs6819598
NM_020785.2(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430
NM_020785.2(CC2D2A):c.101G>A (p.Arg34Gln) rs756008877
NM_020785.2(CC2D2A):c.108G>A (p.Gln36=) rs886044284
NM_020785.2(CC2D2A):c.10A>G (p.Arg4Gly) rs758963962
NM_020785.2(CC2D2A):c.230-6C>T rs1861049
NM_020785.2(CC2D2A):c.262C>T (p.Arg88Ter) rs1861050
NM_020785.2(CC2D2A):c.263G>A (p.Arg88Gln) rs373080748
NM_020785.2(CC2D2A):c.271C>G (p.Pro91Ala) rs794727713
NM_020785.2(CC2D2A):c.282del (p.Gln94fs) rs1064793618
NM_020785.2(CC2D2A):c.298G>A (p.Ala100Thr) rs745986665
NM_020785.2(CC2D2A):c.305del (p.Gly102fs) rs1433294475
NM_020785.2(CC2D2A):c.349A>G (p.Thr117Ala)
NM_020785.2(CC2D2A):c.353+26A>G rs10000250
NM_020785.2(CC2D2A):c.39+217C>G
NM_020785.2(CC2D2A):c.40-274T>C
NM_020785.2(CC2D2A):c.7C>A (p.Pro3Thr)

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