ClinVar Miner

List of variants in gene CC2D2A reported as uncertain significance

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Total variants: 348
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.*144A>C
NM_001080522.2(CC2D2A):c.*1T>A rs199945435
NM_001080522.2(CC2D2A):c.*45G>C rs372449768
NM_001080522.2(CC2D2A):c.1017+7G>A rs137919504
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.1140G>A (p.Leu380=) rs373742688
NM_001080522.2(CC2D2A):c.1222A>G (p.Ile408Val) rs1196012902
NM_001080522.2(CC2D2A):c.1260T>G (p.Cys420Trp) rs751436798
NM_001080522.2(CC2D2A):c.1266C>G (p.Ser422Arg) rs1229319521
NM_001080522.2(CC2D2A):c.1324C>T (p.His442Tyr) rs773421101
NM_001080522.2(CC2D2A):c.1359+10A>G rs373012628
NM_001080522.2(CC2D2A):c.1378G>A (p.Ala460Thr) rs761369067
NM_001080522.2(CC2D2A):c.1390G>A (p.Gly464Ser) rs1399985089
NM_001080522.2(CC2D2A):c.1392C>A (p.Gly464=) rs755258233
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.1484G>A (p.Arg495His) rs373906628
NM_001080522.2(CC2D2A):c.1497A>G (p.Gln499=) rs368116362
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.1533A>T (p.Lys511Asn) rs1577354625
NM_001080522.2(CC2D2A):c.1546A>G (p.Met516Val) rs751646059
NM_001080522.2(CC2D2A):c.1598T>C (p.Val533Ala) rs777351655
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.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.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) rs762298895
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) rs895786252
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.2007G>A (p.Ala669=) rs376644970
NM_001080522.2(CC2D2A):c.2016G>A (p.Ser672=) rs369398469
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) rs879877075
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.2090T>C (p.Val697Ala) rs766282869
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.2163G>A (p.Pro721=) rs768337150
NM_001080522.2(CC2D2A):c.2181+3A>G
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=) rs764246302
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) rs377188181
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_2339-9del rs886059157
NM_001080522.2(CC2D2A):c.2348T>A (p.Phe783Tyr) rs374294064
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) rs375167917
NM_001080522.2(CC2D2A):c.247+448G>A rs1064797307
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+8A>G rs749186859
NM_001080522.2(CC2D2A):c.2486+9T>C rs768382177
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) rs747204358
NM_001080522.2(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573
NM_001080522.2(CC2D2A):c.2624C>T (p.Ser875Leu) rs200904521
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.2687A>C (p.Glu896Ala) rs1553838206
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.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.2844G>A (p.Arg948=) rs182369056
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.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.305G>A (p.Gly102Glu) rs373765548
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.3113A>T (p.Asp1038Val) rs376913682
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.3154G>A (p.Asp1052Asn) rs1055487228
NM_001080522.2(CC2D2A):c.3157A>G (p.Ile1053Val) rs148194457
NM_001080522.2(CC2D2A):c.3176C>A (p.Ala1059Glu) rs200034384
NM_001080522.2(CC2D2A):c.3198G>A (p.Pro1066=) rs970431525
NM_001080522.2(CC2D2A):c.3200C>T (p.Ser1067Leu) rs886059181
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.3260C>T (p.Thr1087Ile) rs1577382579
NM_001080522.2(CC2D2A):c.3280C>G (p.Leu1094Val) rs200518703
NM_001080522.2(CC2D2A):c.3288+3G>A rs372903309
NM_001080522.2(CC2D2A):c.3288G>C (p.Gln1096His) rs863225169
NM_001080522.2(CC2D2A):c.3289-2del rs774235067
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.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.3417T>C (p.Tyr1139=) rs749549856
NM_001080522.2(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973
NM_001080522.2(CC2D2A):c.3495G>A (p.Glu1165=) rs374241960
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) rs375344007
NM_001080522.2(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635
NM_001080522.2(CC2D2A):c.3524A>G (p.His1175Arg) rs886059184
NM_001080522.2(CC2D2A):c.3529C>T rs371561652
NM_001080522.2(CC2D2A):c.3536A>T (p.Glu1179Val) rs1560188280
NM_001080522.2(CC2D2A):c.355T>C (p.Leu119=) rs202150325
NM_001080522.2(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842
NM_001080522.2(CC2D2A):c.3588del (p.Ala1197fs) rs982352950
NM_001080522.2(CC2D2A):c.3594+5G>A rs863225181
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) rs766400907
NM_001080522.2(CC2D2A):c.3643A>G (p.Ser1215Gly) rs765661601
NM_001080522.2(CC2D2A):c.3652C>A (p.Arg1218=) 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.3751G>A (p.Gly1251Arg) rs368180778
NM_001080522.2(CC2D2A):c.3771+1G>C rs1560190091
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.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.389G>A (p.Arg130His) rs778519147
NM_001080522.2(CC2D2A):c.389G>T (p.Arg130Leu) rs778519147
NM_001080522.2(CC2D2A):c.395G>A (p.Arg132Gln) rs772016081
NM_001080522.2(CC2D2A):c.3975+2dup rs1560192764
NM_001080522.2(CC2D2A):c.3976-18C>G rs375782772
NM_001080522.2(CC2D2A):c.3985G>C (p.Ala1329Pro) rs951039594
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.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.4202C>G (p.Thr1401Ser) rs143947747
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.4296T>C (p.Cys1432=) rs372671421
NM_001080522.2(CC2D2A):c.4303G>A (p.Gly1435Ser) rs56265649
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.438G>A (p.Glu146=) rs1215345163
NM_001080522.2(CC2D2A):c.4437G>C (p.Gln1479His) rs878854168
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) rs971832306
NM_001080522.2(CC2D2A):c.4496+2T>C rs386833762
NM_001080522.2(CC2D2A):c.4497G>C (p.Arg1499Ser) rs1482342015
NM_001080522.2(CC2D2A):c.4512A>G (p.Leu1504=) rs762143074
NM_001080522.2(CC2D2A):c.4541G>A (p.Arg1514His) rs368191427
NM_001080522.2(CC2D2A):c.4550C>T (p.Thr1517Ile) rs780673487
NM_001080522.2(CC2D2A):c.4552C>T (p.Arg1518Trp) rs767260373
NM_001080522.2(CC2D2A):c.4553G>A (p.Arg1518Gln) rs200645738
NM_001080522.2(CC2D2A):c.4583G>A (p.Arg1528His) rs886940102
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.4675-12T>G rs769761582
NM_001080522.2(CC2D2A):c.4675-14T>A rs766203266
NM_001080522.2(CC2D2A):c.4682dup (p.Phe1562fs) rs1553845917
NM_001080522.2(CC2D2A):c.4688C>T (p.Pro1563Leu) rs886059186
NM_001080522.2(CC2D2A):c.4728C>T (p.Asp1576=) rs774919996
NM_001080522.2(CC2D2A):c.4729G>A (p.Ala1577Thr) rs199695154
NM_001080522.2(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700
NM_001080522.2(CC2D2A):c.4815T>C (p.Asn1605=) rs370146822
NM_001080522.2(CC2D2A):c.4838T>C (p.Val1613Ala) rs769264337
NM_001080522.2(CC2D2A):c.4844_4847del rs863225175
NM_001080522.2(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078
NM_001080522.2(CC2D2A):c.4853G>A (p.Arg1618His) rs766713015
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.541-5G>A rs369022150
NM_001080522.2(CC2D2A):c.565G>A (p.Glu189Lys) rs1560157691
NM_001080522.2(CC2D2A):c.579C>G (p.Asn193Lys) rs761117385
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.647C>T (p.Ala216Val) rs768733110
NM_001080522.2(CC2D2A):c.663_665GGA[2] (p.Glu224del) rs1553825978
NM_001080522.2(CC2D2A):c.717+11T>C rs184351317
NM_001080522.2(CC2D2A):c.751G>A (p.Glu251Lys) rs374554530
NM_001080522.2(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001080522.2(CC2D2A):c.832C>T (p.Arg278Trp) rs372873919
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 rs114387988
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) rs188018643
NM_001080522.2(CC2D2A):c.950G>T (p.Gly317Val) rs775632403
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_001378615.1(CC2D2A):c.*94T>C
NM_001378615.1(CC2D2A):c.-47G>A
NM_001378615.1(CC2D2A):c.-87G>A
NM_001378615.1(CC2D2A):c.1018-11T>C
NM_001378615.1(CC2D2A):c.1123G>C (p.Ala375Pro)
NM_001378615.1(CC2D2A):c.1179T>G (p.His393Gln)
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val)
NM_001378615.1(CC2D2A):c.1466+3G>A
NM_001378615.1(CC2D2A):c.1466G>A (p.Arg489Gln)
NM_001378615.1(CC2D2A):c.1483C>T (p.Arg495Cys)
NM_001378615.1(CC2D2A):c.149T>A (p.Met50Lys)
NM_001378615.1(CC2D2A):c.1511C>T (p.Thr504Ile)
NM_001378615.1(CC2D2A):c.1553C>A (p.Ser518Tyr)
NM_001378615.1(CC2D2A):c.1621C>A (p.Gln541Lys)
NM_001378615.1(CC2D2A):c.1693GAG[1] (p.Glu566del)
NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr)
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu)
NM_001378615.1(CC2D2A):c.1766G>A (p.Arg589Lys)
NM_001378615.1(CC2D2A):c.1799A>C (p.Glu600Ala)
NM_001378615.1(CC2D2A):c.1804C>T (p.His602Tyr)
NM_001378615.1(CC2D2A):c.1810G>A (p.Gly604Ser)
NM_001378615.1(CC2D2A):c.1820T>C (p.Ile607Thr)
NM_001378615.1(CC2D2A):c.1850T>C (p.Val617Ala)
NM_001378615.1(CC2D2A):c.1859G>A (p.Ser620Asn)
NM_001378615.1(CC2D2A):c.1955C>T (p.Pro652Leu)
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg)
NM_001378615.1(CC2D2A):c.2006C>A (p.Ala669Glu)
NM_001378615.1(CC2D2A):c.2041T>A (p.Ser681Thr)
NM_001378615.1(CC2D2A):c.2452C>A (p.Pro818Thr)
NM_001378615.1(CC2D2A):c.2456C>A (p.Pro819Gln)
NM_001378615.1(CC2D2A):c.2476G>A (p.Gly826Arg)
NM_001378615.1(CC2D2A):c.2487-6T>C
NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe)
NM_001378615.1(CC2D2A):c.2542A>G (p.Met848Val)
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=)
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp)
NM_001378615.1(CC2D2A):c.2669T>G (p.Leu890Arg)
NM_001378615.1(CC2D2A):c.2736G>C (p.Arg912Ser)
NM_001378615.1(CC2D2A):c.275G>A (p.Arg92Lys)
NM_001378615.1(CC2D2A):c.2843G>A (p.Arg948Gln)
NM_001378615.1(CC2D2A):c.2902G>A (p.Val968Ile)
NM_001378615.1(CC2D2A):c.2993AAG[1] (p.Glu999_Glu1000del)
NM_001378615.1(CC2D2A):c.3014G>A (p.Ser1005Asn)
NM_001378615.1(CC2D2A):c.3017T>A (p.Ile1006Asn)
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln)
NM_001378615.1(CC2D2A):c.3140T>C (p.Ile1047Thr)
NM_001378615.1(CC2D2A):c.3157A>C (p.Ile1053Leu)
NM_001378615.1(CC2D2A):c.3160C>T (p.Pro1054Ser)
NM_001378615.1(CC2D2A):c.3263A>C (p.His1088Pro)
NM_001378615.1(CC2D2A):c.3272A>T (p.Asp1091Val)
NM_001378615.1(CC2D2A):c.3283G>A (p.Gly1095Ser)
NM_001378615.1(CC2D2A):c.3610A>C (p.Lys1204Gln)
NM_001378615.1(CC2D2A):c.3805G>A (p.Ala1269Thr)
NM_001378615.1(CC2D2A):c.3856T>C (p.Cys1286Arg)
NM_001378615.1(CC2D2A):c.3929C>T (p.Pro1310Leu)
NM_001378615.1(CC2D2A):c.3976-3C>T
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser)
NM_001378615.1(CC2D2A):c.4067A>G (p.Gln1356Arg)
NM_001378615.1(CC2D2A):c.4233T>A (p.Asn1411Lys)
NM_001378615.1(CC2D2A):c.438+1G>T
NM_001378615.1(CC2D2A):c.451G>T (p.Val151Leu)
NM_001378615.1(CC2D2A):c.4526T>C (p.Met1509Thr)
NM_001378615.1(CC2D2A):c.4560T>C (p.Asn1520=)
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001378615.1(CC2D2A):c.4690C>T (p.Leu1564Phe)
NM_001378615.1(CC2D2A):c.4747G>A (p.Val1583Ile)
NM_001378615.1(CC2D2A):c.4763T>C (p.Val1588Ala)
NM_001378615.1(CC2D2A):c.4852C>A (p.Arg1618Ser)
NM_001378615.1(CC2D2A):c.503T>C (p.Phe168Ser)
NM_001378615.1(CC2D2A):c.518G>A (p.Arg173Gln)
NM_001378615.1(CC2D2A):c.541G>A (p.Val181Ile)
NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val)
NM_001378615.1(CC2D2A):c.56A>T (p.Asp19Val)
NM_001378615.1(CC2D2A):c.58G>A (p.Glu20Lys)
NM_001378615.1(CC2D2A):c.695C>A (p.Ala232Glu)
NM_001378615.1(CC2D2A):c.708A>T (p.Gly236=)
NM_001378615.1(CC2D2A):c.833G>A (p.Arg278Gln)
NM_020785.2(CC2D2A):c.-212T>C rs886059135
NM_020785.2(CC2D2A):c.-32G>A rs183968785
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.263G>A (p.Arg88Gln) rs373080748
NM_020785.2(CC2D2A):c.271C>G (p.Pro91Ala) rs794727713
NM_020785.2(CC2D2A):c.298G>A (p.Ala100Thr) rs745986665
NM_020785.2(CC2D2A):c.349A>G (p.Thr117Ala) rs766042434
NM_020785.2(CC2D2A):c.7C>A (p.Pro3Thr) rs745734694

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