ClinVar Miner

List of variants in gene CC2D2A reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 285
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.4065+28A>T rs6832789 0.95451
NM_001378615.1(CC2D2A):c.1607+139A>G rs7687556 0.93940
NC_000004.12:g.15601632C>G rs13118894 0.93864
NM_001378615.1(CC2D2A):c.4437+154C>T rs10212939 0.93840
NM_001378615.1(CC2D2A):c.247+26A>G rs10000250 0.85216
NM_001378615.1(CC2D2A):c.40-274T>C rs9995927 0.85061
NM_001378615.1(CC2D2A):c.-18-2439A>G rs10022530 0.84841
NM_001378615.1(CC2D2A):c.4314+121C>T rs5020094 0.83058
NM_001378615.1(CC2D2A):c.1764+45T>G rs1558572 0.75139
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_001378615.1(CC2D2A):c.3975+191A>G rs6449149 0.69019
NM_001378615.1(CC2D2A):c.3595-55C>G rs4280723 0.69017
NM_001378615.1(CC2D2A):c.3288+41A>C rs13116304 0.68417
NM_001378615.1(CC2D2A):c.*21G>C rs1134634 0.57021
NM_001378615.1(CC2D2A):c.1765-24A>G rs1861044 0.52969
NM_001378615.1(CC2D2A):c.1764+223G>T rs2314645 0.52649
NM_001378615.1(CC2D2A):c.247+358G>A rs6810461 0.47869
NM_001378615.1(CC2D2A):c.2830-157C>G rs9996452 0.41207
NM_001378615.1(CC2D2A):c.2922+216A>G rs59055524 0.40641
NM_001378615.1(CC2D2A):c.4675-87del rs748744648 0.33561
NM_001378615.1(CC2D2A):c.4675-89_4675-88insTT rs532555651 0.33332
NM_001378615.1(CC2D2A):c.247+639G>A rs4698387 0.30550
NM_001378615.1(CC2D2A):c.1467-170C>T rs11931401 0.30423
NM_001378615.1(CC2D2A):c.1360-119C>A rs4698395 0.29826
NM_001378615.1(CC2D2A):c.717+101C>T rs1058412 0.29791
NM_001378615.1(CC2D2A):c.4314+163C>T rs28661857 0.27499
NM_001378615.1(CC2D2A):c.4066-94C>T rs28419165 0.27380
NM_001378615.1(CC2D2A):c.2182-249T>C rs2041671 0.27309
NM_001378615.1(CC2D2A):c.2487-292A>G rs3822298 0.27067
NM_001378615.1(CC2D2A):c.3595-22C>T rs4280724 0.26375
NM_001378615.1(CC2D2A):c.-18-2543C>T rs11728800 0.26328
NM_001378615.1(CC2D2A):c.2004-263A>G rs16892135 0.25338
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_001378615.1(CC2D2A):c.247+217A>C rs6836616 0.17637
NM_001378615.1(CC2D2A):c.1149+216C>T rs147126957 0.16929
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_001378615.1(CC2D2A):c.1017+309C>T rs16892092 0.15661
NM_001378615.1(CC2D2A):c.438+273G>A rs34036638 0.14332
NM_001378615.1(CC2D2A):c.3014+97C>T rs67224550 0.14124
NM_001378615.1(CC2D2A):c.3014+208T>C rs16892156 0.14110
NM_001378615.1(CC2D2A):c.3014+222C>G rs67222859 0.14109
NM_001378615.1(CC2D2A):c.3496-257A>G rs34924677 0.13937
NM_001378615.1(CC2D2A):c.3182+63T>C rs34831330 0.13796
NM_001378615.1(CC2D2A):c.2182-24C>T rs2041673 0.13698
NM_001378615.1(CC2D2A):c.2182-152A>G rs2041672 0.13453
NM_001378615.1(CC2D2A):c.2830-38G>T rs35309200 0.12892
NM_001378615.1(CC2D2A):c.-19+37G>C rs6819598 0.10157
NM_001378615.1(CC2D2A):c.2003+19C>T rs17476642 0.09677
NM_001378615.1(CC2D2A):c.2922+212C>A rs17385951 0.08969
NM_001378615.1(CC2D2A):c.2923-141C>T rs17476879 0.08926
NM_001378615.1(CC2D2A):c.247+453G>A rs28662094 0.08647
NM_001378615.1(CC2D2A):c.123+52G>A rs13353624 0.07897
NM_001378615.1(CC2D2A):c.123+235T>G rs80245100 0.07862
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_001378615.1(CC2D2A):c.124-252C>G rs10032974 0.07457
NM_001378615.1(CC2D2A):c.1765-69A>G rs73237160 0.05412
NM_001378615.1(CC2D2A):c.1467-103G>A rs4698397 0.04920
NM_001378615.1(CC2D2A):c.1765-320T>C rs16892131 0.04591
NM_001378615.1(CC2D2A):c.2181+145A>G rs79995149 0.04525
NM_001378615.1(CC2D2A):c.541-25G>T rs16892080 0.04468
NM_001378615.1(CC2D2A):c.439-107G>A rs16892075 0.04296
NM_001378615.1(CC2D2A):c.777C>T (p.His259=) rs2286976 0.04284
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_001378615.1(CC2D2A):c.123+679G>A rs76432934 0.02358
NM_001378615.1(CC2D2A):c.1608-159A>C rs116496338 0.01997
NM_001378615.1(CC2D2A):c.2830-97A>G rs147979314 0.01803
NM_001378615.1(CC2D2A):c.4066-249G>A rs112901708 0.01790
NC_000004.12:g.15469808T>C rs28463577 0.01551
NM_001378615.1(CC2D2A):c.3015-295T>C rs75380803 0.01241
NM_001378615.1(CC2D2A):c.2004-214A>G rs16892138 0.01217
NM_001378615.1(CC2D2A):c.1149+253G>A rs183096710 0.01163
NM_001378615.1(CC2D2A):c.4675-169A>C rs6850488 0.01041
NM_001378615.1(CC2D2A):c.3772-39T>C rs28537702 0.01012
NM_001378615.1(CC2D2A):c.4314+130A>G rs558777331 0.00994
NM_001378615.1(CC2D2A):c.3014+281C>T rs138308149 0.00946
NM_001378615.1(CC2D2A):c.4496+142G>T rs114926503 0.00862
NM_001378615.1(CC2D2A):c.718-171C>T rs73799891 0.00750
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428 0.00732
NM_001378615.1(CC2D2A):c.438+261T>A rs568102516 0.00714
NM_001378615.1(CC2D2A):c.1150-158C>T rs141072393 0.00681
NM_001378615.1(CC2D2A):c.1149+255G>A rs560882066 0.00673
NM_001378615.1(CC2D2A):c.541-20T>G rs114335547 0.00669
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_001378615.1(CC2D2A):c.40-179A>C rs148503729 0.00640
NM_001378615.1(CC2D2A):c.-18-2673G>A rs183968785 0.00636
NM_001378615.1(CC2D2A):c.4497-99T>C rs142321511 0.00623
NM_001378615.1(CC2D2A):c.4179+247G>A rs144446112 0.00622
NM_001378615.1(CC2D2A):c.4496+265T>A rs145908751 0.00608
NM_001378615.1(CC2D2A):c.2339-81G>C rs114741225 0.00590
NM_001378615.1(CC2D2A):c.4180-257T>C rs79847417 0.00553
NM_001378615.1(CC2D2A):c.1150-81G>A rs116497713 0.00552
NM_001378615.1(CC2D2A):c.1360-152A>G rs73798607 0.00510
NM_001378615.1(CC2D2A):c.2487-181T>C rs144857763 0.00508
NM_001378615.1(CC2D2A):c.3015-269G>A rs78227788 0.00507
NM_001378615.1(CC2D2A):c.4497-162G>A rs114612284 0.00497
NM_001378615.1(CC2D2A):c.439-28T>G rs148190483 0.00482
NM_001378615.1(CC2D2A):c.247+286T>G rs141540110 0.00480
NM_001378615.1(CC2D2A):c.4314+170G>A rs144270073 0.00466
NM_001378615.1(CC2D2A):c.1466+231C>T rs144943638 0.00416
NM_001378615.1(CC2D2A):c.4066-124G>A rs116581330 0.00416
NM_001378615.1(CC2D2A):c.3398+131C>T rs115284046 0.00403
NM_001378615.1(CC2D2A):c.4438-137T>C rs140464941 0.00394
NM_001378615.1(CC2D2A):c.1608-152T>C rs1558571 0.00365
NM_001378615.1(CC2D2A):c.247+259A>G rs114760230 0.00360
NM_001378615.1(CC2D2A):c.4065+229A>C rs540178152 0.00352
NM_001378615.1(CC2D2A):c.4496+163T>G rs142292638 0.00337
NM_001378615.1(CC2D2A):c.2625+204G>A rs141929992 0.00328
NM_001378615.1(CC2D2A):c.2626-260G>A rs78223914 0.00325
NM_001378615.1(CC2D2A):c.1359+26T>A rs10007035 0.00284
NM_001378615.1(CC2D2A):c.2475C>T (p.Ile825=) rs113835820 0.00275
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235 0.00265
NM_001378615.1(CC2D2A):c.3288+25T>C rs73125629 0.00263
NM_001378615.1(CC2D2A):c.1607+265A>T rs185349028 0.00247
NM_001378615.1(CC2D2A):c.2487-11C>G rs374783761 0.00168
NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile) rs190698163 0.00159
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_001378615.1(CC2D2A):c.2181+7A>C rs143681243 0.00124
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537 0.00123
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635 0.00120
NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile) rs115924432 0.00089
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=) rs375131519 0.00080
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832 0.00073
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00067
NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln) rs200707391 0.00061
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) rs202150325 0.00059
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His) rs150093365 0.00057
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842 0.00051
NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=) rs199861496 0.00051
NM_001378615.1(CC2D2A):c.*1T>A rs199945435 0.00042
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr) rs199695154 0.00039
NM_001378615.1(CC2D2A):c.4438-31T>C rs147005127 0.00037
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421 0.00036
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_001378615.1(CC2D2A):c.613G>A (p.Gly205Arg) rs147499316 0.00031
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met) rs369476930 0.00027
NM_001378615.1(CC2D2A):c.3976-18C>G rs375782772 0.00026
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237 0.00026
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078 0.00023
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973 0.00022
NM_001378615.1(CC2D2A):c.2270C>A (p.Ala757Asp) rs377188181 0.00021
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly) rs747204358 0.00021
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001378615.1(CC2D2A):c.2197G>A (p.Gly733Arg) rs372259202 0.00019
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=) rs371608031 0.00015
NM_001378615.1(CC2D2A):c.3368G>A (p.Ser1123Asn) rs377404804 0.00015
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=) rs376746356 0.00014
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=) rs185072004 0.00014
NM_001378615.1(CC2D2A):c.3014+4A>C rs748451478 0.00014
NM_001378615.1(CC2D2A):c.3113A>T (p.Asp1038Val) rs376913682 0.00014
NM_001378615.1(CC2D2A):c.3744G>T (p.Leu1248=) rs755747140 0.00013
NM_001378615.1(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573 0.00012
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu) rs368886216 0.00011
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617 0.00010
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727 0.00010
NM_001378615.1(CC2D2A):c.3503G>A (p.Arg1168His) rs375344007 0.00010
NM_001378615.1(CC2D2A):c.1484G>A (p.Arg495His) rs373906628 0.00009
NM_001378615.1(CC2D2A):c.2182-9G>A rs376312792 0.00009
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu) rs200904521 0.00009
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044 0.00009
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430 0.00009
NM_001378615.1(CC2D2A):c.1017+1G>A rs200407856 0.00008
NM_001378615.1(CC2D2A):c.2476G>A (p.Gly826Arg) rs201946793 0.00008
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr) rs146843542 0.00007
NM_001378615.1(CC2D2A):c.286G>A (p.Ala96Thr) rs376438052 0.00006
NM_001378615.1(CC2D2A):c.3157A>G (p.Ile1053Val) rs148194457 0.00006
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met) rs267606709 0.00006
NM_001378615.1(CC2D2A):c.3381A>G (p.Glu1127=) rs373780145 0.00006
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061 0.00006
NM_001378615.1(CC2D2A):c.3985G>C (p.Ala1329Pro) rs951039594 0.00006
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly) rs375247004 0.00006
NM_001378615.1(CC2D2A):c.157G>A (p.Glu53Lys) rs373080748 0.00005
NM_001378615.1(CC2D2A):c.3618T>A (p.Asp1206Glu) rs766400907 0.00005
NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln) rs200645738 0.00005
NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg) rs760839591 0.00004
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val) rs775138548 0.00004
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu) rs370014549 0.00004
NM_001378615.1(CC2D2A):c.2387T>G (p.Met796Arg) rs367560550 0.00003
NM_001378615.1(CC2D2A):c.2519T>C (p.Ile840Thr) rs373111926 0.00003
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752 0.00003
NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg) rs763466980 0.00003
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter) rs529437224 0.00003
NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878 0.00003
NM_001378615.1(CC2D2A):c.245G>A (p.Arg82Gln) rs527974001 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00002
NM_001378615.1(CC2D2A):c.3430C>G (p.Leu1144Val) rs1205003204 0.00002
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829 0.00002
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter) rs1022325907 0.00002
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln) rs748886997 0.00002
NM_001378615.1(CC2D2A):c.4688C>G (p.Pro1563Arg) rs886059186 0.00002
NM_001378615.1(CC2D2A):c.4850T>C (p.Ile1617Thr) rs371868705 0.00002
NM_001378615.1(CC2D2A):c.1222A>G (p.Ile408Val) rs1196012902 0.00001
NM_001378615.1(CC2D2A):c.1466G>A (p.Arg489Gln) rs1300362447 0.00001
NM_001378615.1(CC2D2A):c.1780A>G (p.Lys594Glu) rs764556903 0.00001
NM_001378615.1(CC2D2A):c.1880G>A (p.Arg627Gln) rs752576142 0.00001
NM_001378615.1(CC2D2A):c.2041T>A (p.Ser681Thr) rs769428879 0.00001
NM_001378615.1(CC2D2A):c.2288A>C (p.Glu763Ala) rs759466798 0.00001
NM_001378615.1(CC2D2A):c.2417C>T (p.Ala806Val) rs769808709 0.00001
NM_001378615.1(CC2D2A):c.274A>G (p.Arg92Gly) rs886043867 0.00001
NM_001378615.1(CC2D2A):c.2773C>T (p.Arg925Ter) rs386833748 0.00001
NM_001378615.1(CC2D2A):c.2829+9C>T rs1009676697 0.00001
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053 0.00001
NM_001378615.1(CC2D2A):c.3076A>G (p.Lys1026Glu) rs759702917 0.00001
NM_001378615.1(CC2D2A):c.3458T>C (p.Ile1153Thr) rs1410133502 0.00001
NM_001378615.1(CC2D2A):c.3580T>C (p.Tyr1194His) rs756905415 0.00001
NM_001378615.1(CC2D2A):c.4326T>C (p.Asn1442=) rs780298185 0.00001
NM_001378615.1(CC2D2A):c.438+25T>G rs199546835 0.00001
NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg) rs368720062 0.00001
NM_001378615.1(CC2D2A):c.4550C>G (p.Thr1517Ser) rs780673487 0.00001
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001378615.1(CC2D2A):c.1017+142del rs58218122
NM_001378615.1(CC2D2A):c.1017+142dup rs58218122
NM_001378615.1(CC2D2A):c.1149+209_1149+211del rs397992357
NM_001378615.1(CC2D2A):c.1149+210_1149+211del rs397992357
NM_001378615.1(CC2D2A):c.1149+211del rs397992357
NM_001378615.1(CC2D2A):c.1149+211dup rs397992357
NM_001378615.1(CC2D2A):c.123+132G>T rs146065951
NM_001378615.1(CC2D2A):c.123+654C>G rs111618236
NM_001378615.1(CC2D2A):c.1236G>A (p.Gly412=) rs1417156333
NM_001378615.1(CC2D2A):c.1355A>C (p.Asp452Ala)
NM_001378615.1(CC2D2A):c.1370T>A (p.Leu457Ter) rs1131691659
NM_001378615.1(CC2D2A):c.1644T>G (p.Tyr548Ter)
NM_001378615.1(CC2D2A):c.1720T>A (p.Tyr574Asn) rs768277071
NM_001378615.1(CC2D2A):c.176del (p.Asn59fs) rs1064793618
NM_001378615.1(CC2D2A):c.179C>T (p.Pro60Leu) rs566035797
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001378615.1(CC2D2A):c.2182-9_2182-8delinsAA rs1560177950
NM_001378615.1(CC2D2A):c.247+553G>A rs10049920
NM_001378615.1(CC2D2A):c.248-57TTTTC[3] rs144502190
NM_001378615.1(CC2D2A):c.2486+143_2486+157del rs146708633
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.2728C>A (p.Arg910=) rs781206278
NM_001378615.1(CC2D2A):c.2728C>T (p.Arg910Ter) rs781206278
NM_001378615.1(CC2D2A):c.2737C>T (p.Leu913Phe)
NM_001378615.1(CC2D2A):c.298A>G (p.Met100Val) rs370014549
NM_001378615.1(CC2D2A):c.2993A>T (p.Glu998Val) rs2109061743
NM_001378615.1(CC2D2A):c.3021G>A (p.Leu1007=)
NM_001378615.1(CC2D2A):c.3071G>C (p.Arg1024Thr)
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001378615.1(CC2D2A):c.3145C>A (p.Arg1049=) rs386833750
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001378615.1(CC2D2A):c.3250T>A (p.Tyr1084Asn) rs751234041
NM_001378615.1(CC2D2A):c.3283G>A (p.Gly1095Ser) rs181260724
NM_001378615.1(CC2D2A):c.3320T>G (p.Phe1107Cys) rs886041156
NM_001378615.1(CC2D2A):c.336+120G>C rs142389729
NM_001378615.1(CC2D2A):c.352G>A (p.Ala118Thr) rs1214212437
NM_001378615.1(CC2D2A):c.3594+273_3594+304del rs368099911
NM_001378615.1(CC2D2A):c.3652C>T (p.Arg1218Ter) rs375278294
NM_001378615.1(CC2D2A):c.3679_3682del (p.Asp1227fs)
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001378615.1(CC2D2A):c.3880A>C (p.Ser1294Arg) rs1064795568
NM_001378615.1(CC2D2A):c.39+217C>G rs13118306
NM_001378615.1(CC2D2A):c.3975+5G>A
NM_001378615.1(CC2D2A):c.3989G>T (p.Arg1330Leu)
NM_001378615.1(CC2D2A):c.40-122A>C rs9993580
NM_001378615.1(CC2D2A):c.4066-125C>G rs6449150
NM_001378615.1(CC2D2A):c.4066-12del rs752759735
NM_001378615.1(CC2D2A):c.4166A>G (p.Asn1389Ser)
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001378615.1(CC2D2A):c.4244G>T (p.Gly1415Val)
NM_001378615.1(CC2D2A):c.4314+106AT[8] rs33940641
NM_001378615.1(CC2D2A):c.4314+106AT[9] rs33940641
NM_001378615.1(CC2D2A):c.4314+126AT[4] rs1224228052
NM_001378615.1(CC2D2A):c.4314+146del rs5856307
NM_001378615.1(CC2D2A):c.4315-6_4315-3del rs926806639
NM_001378615.1(CC2D2A):c.4331A>G (p.Gln1444Arg) rs2148493472
NM_001378615.1(CC2D2A):c.4437+223_4437+224dup rs35816693
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001378615.1(CC2D2A):c.4533G>C (p.Trp1511Cys) rs777158229
NM_001378615.1(CC2D2A):c.4675-85_4675-83dup rs10636888
NM_001378615.1(CC2D2A):c.4726G>C (p.Asp1576His) rs1064794798
NM_001378615.1(CC2D2A):c.4814dup (p.Asn1605fs)
NM_001378615.1(CC2D2A):c.551G>C (p.Gly184Ala)
NM_001378615.1(CC2D2A):c.62delinsTC (p.Asp21fs) rs1577309042
NM_001378615.1(CC2D2A):c.646G>C (p.Ala216Pro)
NM_001378615.1(CC2D2A):c.673G>T (p.Gly225Trp)
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001378615.1(CC2D2A):c.766G>A (p.Gly256Ser) rs981848455
NM_001378615.1(CC2D2A):c.951G>A (p.Gly317=) rs762984980

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