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.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.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.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.1017+7G>A
|
rs137919504
|
0.00080
|
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.2161C>T (p.Pro721Ser)
|
rs199768782
|
0.00061
|
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.1821T>C (p.Ile607=)
|
rs373296447
|
0.00034
|
NM_001378615.1(CC2D2A):c.613G>A (p.Gly205Arg)
|
rs147499316
|
0.00031
|
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=)
|
rs182369056
|
0.00029
|
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met)
|
rs369476930
|
0.00027
|
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)
|
rs201954181
|
0.00026
|
NM_001378615.1(CC2D2A):c.3976-18C>G
|
rs375782772
|
0.00026
|
NM_001378615.1(CC2D2A):c.4675-15G>A
|
rs377573053
|
0.00026
|
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)
|
rs190694237
|
0.00026
|
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=)
|
rs367841700
|
0.00024
|
NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys)
|
rs374554530
|
0.00024
|
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys)
|
rs201219078
|
0.00023
|
NM_001378615.1(CC2D2A):c.2007G>A (p.Ala669=)
|
rs376644970
|
0.00022
|
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)
|
rs771914973
|
0.00022
|
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)
|
rs200236654
|
0.00021
|
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.3280C>G (p.Leu1094Val)
|
rs200518703
|
0.00019
|
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=)
|
rs372292129
|
0.00018
|
NM_001378615.1(CC2D2A):c.4815T>C (p.Asn1605=)
|
rs370146822
|
0.00018
|
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.3113A>T (p.Asp1038Val)
|
rs376913682
|
0.00014
|
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg)
|
rs368180778
|
0.00014
|
NM_001378615.1(CC2D2A):c.423T>C (p.Thr141=)
|
rs368572539
|
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.4005T>A (p.Ile1335=)
|
rs199688524
|
0.00012
|
NM_001378615.1(CC2D2A):c.4334G>A (p.Arg1445Gln)
|
rs113065116
|
0.00012
|
NM_001378615.1(CC2D2A):c.1359+10A>G
|
rs373012628
|
0.00011
|
NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=)
|
rs768337150
|
0.00011
|
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.332C>T (p.Ala111Val)
|
rs137878385
|
0.00011
|
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=)
|
rs556542553
|
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.4303G>A (p.Gly1435Ser)
|
rs56265649
|
0.00010
|
NM_001378615.1(CC2D2A):c.4659G>C (p.Gln1553His)
|
rs375083236
|
0.00010
|
NM_001378615.1(CC2D2A):c.1484G>A (p.Arg495His)
|
rs373906628
|
0.00009
|
NM_001378615.1(CC2D2A):c.1598T>C (p.Val533Ala)
|
rs777351655
|
0.00009
|
NM_001378615.1(CC2D2A):c.1766G>A (p.Arg589Lys)
|
rs763477416
|
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.2483G>A (p.Arg828Gln)
|
rs375243763
|
0.00008
|
NM_001378615.1(CC2D2A):c.4518A>G (p.Glu1506=)
|
rs772272007
|
0.00008
|
NM_001378615.1(CC2D2A):c.881-8C>T
|
rs114387988
|
0.00008
|
NM_001378615.1(CC2D2A):c.2016G>A (p.Ser672=)
|
rs369398469
|
0.00007
|
NM_001378615.1(CC2D2A):c.3652C>A (p.Arg1218=)
|
rs375278294
|
0.00007
|
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)
|
rs146843542
|
0.00007
|
NM_001378615.1(CC2D2A):c.4512A>G (p.Leu1504=)
|
rs762143074
|
0.00007
|
NM_001378615.1(CC2D2A):c.4541G>A (p.Arg1514His)
|
rs368191427
|
0.00007
|
NM_001378615.1(CC2D2A):c.950G>T (p.Gly317Val)
|
rs775632403
|
0.00007
|
NM_001378615.1(CC2D2A):c.1689C>T (p.His563=)
|
rs755367503
|
0.00006
|
NM_001378615.1(CC2D2A):c.2542A>C (p.Met848Leu)
|
rs376403848
|
0.00006
|
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.3176C>A (p.Ala1059Glu)
|
rs200034384
|
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.4460G>A (p.Arg1487His)
|
rs971832306
|
0.00006
|
NM_001378615.1(CC2D2A):c.4853G>A (p.Arg1618His)
|
rs766713015
|
0.00006
|
NM_001378615.1(CC2D2A):c.647C>T (p.Ala216Val)
|
rs768733110
|
0.00006
|
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)
|
rs375247004
|
0.00006
|
NM_001378615.1(CC2D2A):c.949G>A (p.Gly317Arg)
|
rs188018643
|
0.00006
|
NM_001378615.1(CC2D2A):c.157G>A (p.Glu53Lys)
|
rs373080748
|
0.00005
|
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=)
|
rs199909714
|
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.845A>C (p.Glu282Ala)
|
rs760099299
|
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.1390G>A (p.Gly464Ser)
|
rs1399985089
|
0.00004
|
NM_001378615.1(CC2D2A):c.1546A>G (p.Met516Val)
|
rs751646059
|
0.00004
|
NM_001378615.1(CC2D2A):c.243A>G (p.Pro81=)
|
rs766042434
|
0.00004
|
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu)
|
rs370014549
|
0.00004
|
NM_001378615.1(CC2D2A):c.3501C>T (p.Asp1167=)
|
rs779304750
|
0.00004
|
NM_001378615.1(CC2D2A):c.3643A>G (p.Ser1215Gly)
|
rs765661601
|
0.00004
|
NM_001378615.1(CC2D2A):c.415T>C (p.Leu139=)
|
rs570078140
|
0.00004
|
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala)
|
rs387907058
|
0.00004
|
NM_001378615.1(CC2D2A):c.1451A>G (p.Tyr484Cys)
|
rs746279803
|
0.00003
|
NM_001378615.1(CC2D2A):c.1899G>C (p.Glu633Asp)
|
rs886042809
|
0.00003
|
NM_001378615.1(CC2D2A):c.192G>A (p.Val64=)
|
rs745986665
|
0.00003
|
NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=)
|
rs1379770755
|
0.00003
|
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.2885A>G (p.Asp962Gly)
|
rs201631131
|
0.00003
|
NM_001378615.1(CC2D2A):c.3008A>G (p.Asn1003Ser)
|
rs376663620
|
0.00003
|
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met)
|
rs386833752
|
0.00003
|
NM_001378615.1(CC2D2A):c.3502C>T (p.Arg1168Cys)
|
rs746694614
|
0.00003
|
NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg)
|
rs763466980
|
0.00003
|
NM_001378615.1(CC2D2A):c.388C>T (p.Arg130Cys)
|
rs886042463
|
0.00003
|
NM_001378615.1(CC2D2A):c.389G>A (p.Arg130His)
|
rs778519147
|
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.100C>T (p.Arg34Ter)
|
rs896947430
|
0.00002
|
NM_001378615.1(CC2D2A):c.1140G>A (p.Leu380=)
|
rs373742688
|
0.00002
|
NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=)
|
rs368116362
|
0.00002
|
NM_001378615.1(CC2D2A):c.1829C>T (p.Pro610Leu)
|
rs376457814
|
0.00002
|
NM_001378615.1(CC2D2A):c.2385G>C (p.Leu795=)
|
rs754272410
|
0.00002
|
NM_001378615.1(CC2D2A):c.245G>A (p.Arg82Gln)
|
rs527974001
|
0.00002
|
NM_001378615.1(CC2D2A):c.3054G>A (p.Lys1018=)
|
rs377575861
|
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.3544T>C (p.Trp1182Arg)
|
rs386833755
|
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.4583G>A (p.Arg1528His)
|
rs886940102
|
0.00002
|
NM_001378615.1(CC2D2A):c.4688C>G (p.Pro1563Arg)
|
rs886059186
|
0.00002
|
NM_001378615.1(CC2D2A):c.4838T>C (p.Val1613Ala)
|
rs769264337
|
0.00002
|
NM_001378615.1(CC2D2A):c.4850T>C (p.Ile1617Thr)
|
rs371868705
|
0.00002
|
NM_001378615.1(CC2D2A):c.1019A>C (p.Glu340Ala)
|
rs1450279703
|
0.00001
|
NM_001378615.1(CC2D2A):c.101G>A (p.Arg34Gln)
|
rs756008877
|
0.00001
|
NM_001378615.1(CC2D2A):c.108G>A (p.Gln36=)
|
rs886044284
|
0.00001
|
NM_001378615.1(CC2D2A):c.1222A>G (p.Ile408Val)
|
rs1196012902
|
0.00001
|
NM_001378615.1(CC2D2A):c.1324C>T (p.His442Tyr)
|
rs773421101
|
0.00001
|
NM_001378615.1(CC2D2A):c.1466G>A (p.Arg489Gln)
|
rs1300362447
|
0.00001
|
NM_001378615.1(CC2D2A):c.1692_1699dup (p.Tyr567fs)
|
rs1487693460
|
0.00001
|
NM_001378615.1(CC2D2A):c.1696G>T (p.Glu566Ter)
|
rs780814559
|
0.00001
|
NM_001378615.1(CC2D2A):c.177C>T (p.Asn59=)
|
rs1001847837
|
0.00001
|
NM_001378615.1(CC2D2A):c.1780A>G (p.Lys594Glu)
|
rs764556903
|
0.00001
|
NM_001378615.1(CC2D2A):c.1836C>T (p.Pro612=)
|
rs763567590
|
0.00001
|
NM_001378615.1(CC2D2A):c.1880G>A (p.Arg627Gln)
|
rs752576142
|
0.00001
|
NM_001378615.1(CC2D2A):c.1952T>A (p.Val651Asp)
|
rs762298895
|
0.00001
|
NM_001378615.1(CC2D2A):c.2041T>A (p.Ser681Thr)
|
rs769428879
|
0.00001
|
NM_001378615.1(CC2D2A):c.2053A>G (p.Lys685Glu)
|
rs879877075
|
0.00001
|
NM_001378615.1(CC2D2A):c.2061G>A (p.Leu687=)
|
rs182372139
|
0.00001
|
NM_001378615.1(CC2D2A):c.2251A>G (p.Thr751Ala)
|
rs942868342
|
0.00001
|
NM_001378615.1(CC2D2A):c.2288A>C (p.Glu763Ala)
|
rs759466798
|
0.00001
|
NM_001378615.1(CC2D2A):c.2348T>A (p.Phe783Tyr)
|
rs374294064
|
0.00001
|
NM_001378615.1(CC2D2A):c.2400A>G (p.Lys800=)
|
rs371834330
|
0.00001
|
NM_001378615.1(CC2D2A):c.2417C>T (p.Ala806Val)
|
rs769808709
|
0.00001
|
NM_001378615.1(CC2D2A):c.247+448G>A
|
rs1064797307
|
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.2780A>C (p.Tyr927Ser)
|
rs915290953
|
0.00001
|
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)
|
rs118204053
|
0.00001
|
NM_001378615.1(CC2D2A):c.2891A>G (p.His964Arg)
|
rs1273769297
|
0.00001
|
NM_001378615.1(CC2D2A):c.2900T>C (p.Ile967Thr)
|
rs794727374
|
0.00001
|
NM_001378615.1(CC2D2A):c.305G>A (p.Gly102Glu)
|
rs373765548
|
0.00001
|
NM_001378615.1(CC2D2A):c.3072G>A (p.Arg1024=)
|
rs886044669
|
0.00001
|
NM_001378615.1(CC2D2A):c.3198G>A (p.Pro1066=)
|
rs970431525
|
0.00001
|
NM_001378615.1(CC2D2A):c.3200C>T (p.Ser1067Leu)
|
rs886059181
|
0.00001
|
NM_001378615.1(CC2D2A):c.3228G>A (p.Lys1076=)
|
rs774427183
|
0.00001
|
NM_001378615.1(CC2D2A):c.3414T>C (p.Asp1138=)
|
rs780482620
|
0.00001
|
NM_001378615.1(CC2D2A):c.3417T>C (p.Tyr1139=)
|
rs749549856
|
0.00001
|
NM_001378615.1(CC2D2A):c.3458T>C (p.Ile1153Thr)
|
rs1410133502
|
0.00001
|
NM_001378615.1(CC2D2A):c.3495+5G>A
|
rs1470745200
|
0.00001
|
NM_001378615.1(CC2D2A):c.3495G>A (p.Glu1165=)
|
rs374241960
|
0.00001
|
NM_001378615.1(CC2D2A):c.3529C>T (p.Arg1177Cys)
|
rs371561652
|
0.00001
|
NM_001378615.1(CC2D2A):c.3533T>C (p.Ile1178Thr)
|
rs376674451
|
0.00001
|
NM_001378615.1(CC2D2A):c.3580T>C (p.Tyr1194His)
|
rs756905415
|
0.00001
|
NM_001378615.1(CC2D2A):c.3594+5G>A
|
rs863225181
|
0.00001
|
NM_001378615.1(CC2D2A):c.3601G>A (p.Gly1201Arg)
|
rs1392733763
|
0.00001
|
NM_001378615.1(CC2D2A):c.383C>T (p.Pro128Leu)
|
rs768439693
|
0.00001
|
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)
|
rs763486732
|
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.4396T>G (p.Phe1466Val)
|
rs1170583979
|
0.00001
|
NM_001378615.1(CC2D2A):c.4497G>C (p.Arg1499Ser)
|
rs1482342015
|
0.00001
|
NM_001378615.1(CC2D2A):c.4550C>G (p.Thr1517Ser)
|
rs780673487
|
0.00001
|
NM_001378615.1(CC2D2A):c.4577C>A (p.Thr1526Asn)
|
rs749265354
|
0.00001
|
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)
|
rs118204052
|
0.00001
|
NM_001378615.1(CC2D2A):c.4697T>C (p.Met1566Thr)
|
rs762773515
|
0.00001
|
NM_001378615.1(CC2D2A):c.541-5G>A
|
rs369022150
|
0.00001
|
NM_001378615.1(CC2D2A):c.579C>G (p.Asn193Lys)
|
rs761117385
|
0.00001
|
NM_001378615.1(CC2D2A):c.712G>T (p.Glu238Ter)
|
rs761213221
|
0.00001
|
NM_001378615.1(CC2D2A):c.7C>A (p.Pro3Thr)
|
rs745734694
|
0.00001
|
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp)
|
rs372873919
|
0.00001
|
NM_001378615.1(CC2D2A):c.880+7G>A
|
rs1445614932
|
0.00001
|
NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His)
|
rs113371687
|
0.00001
|
NM_001378615.1(CC2D2A):c.977A>G (p.Asn326Ser)
|
rs1425158863
|
0.00001
|
NM_001080522.2(CC2D2A):c.1017dup (p.Glu340Argfs)
|
rs797044636
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
NM_001378615.1(CC2D2A):c.-18-2263T>C
|
|
|
NM_001378615.1(CC2D2A):c.1017+142del
|
rs58218122
|
|
NM_001378615.1(CC2D2A):c.1017+142dup
|
rs58218122
|
|
NM_001378615.1(CC2D2A):c.1024A>C (p.Arg342=)
|
rs1553827158
|
|
NM_001378615.1(CC2D2A):c.1110G>A (p.Glu370=)
|
rs1289826078
|
|
NM_001378615.1(CC2D2A):c.1149+1G>A
|
rs1553827236
|
|
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.1150-1G>C
|
rs2109023958
|
|
NM_001378615.1(CC2D2A):c.123+132G>T
|
rs146065951
|
|
NM_001378615.1(CC2D2A):c.123+470A>G
|
|
|
NM_001378615.1(CC2D2A):c.123+476T>C
|
|
|
NM_001378615.1(CC2D2A):c.123+483C>T
|
|
|
NM_001378615.1(CC2D2A):c.123+654C>G
|
rs111618236
|
|
NM_001378615.1(CC2D2A):c.1236G>A (p.Gly412=)
|
rs1417156333
|
|
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs)
|
rs1560166511
|
|
NM_001378615.1(CC2D2A):c.1355A>C (p.Asp452Ala)
|
|
|
NM_001378615.1(CC2D2A):c.1360-1G>T
|
|
|
NM_001378615.1(CC2D2A):c.1370T>A (p.Leu457Ter)
|
rs1131691659
|
|
NM_001378615.1(CC2D2A):c.1378G>A (p.Ala460Thr)
|
rs761369067
|
|
NM_001378615.1(CC2D2A):c.1392C>A (p.Gly464=)
|
rs755258233
|
|
NM_001378615.1(CC2D2A):c.1418C>T (p.Ser473Phe)
|
rs373177807
|
|
NM_001378615.1(CC2D2A):c.1466+2T>C
|
rs770219362
|
|
NM_001378615.1(CC2D2A):c.1468C>T (p.Gln490Ter)
|
rs1288358527
|
|
NM_001378615.1(CC2D2A):c.1644T>G (p.Tyr548Ter)
|
|
|
NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=)
|
rs794727713
|
|
NM_001378615.1(CC2D2A):c.1666del (p.Glu555_Ile556insTer)
|
rs773740057
|
|
NM_001378615.1(CC2D2A):c.1720T>A (p.Tyr574Asn)
|
rs768277071
|
|
NM_001378615.1(CC2D2A):c.176del (p.Asn59fs)
|
rs1064793618
|
|
NM_001378615.1(CC2D2A):c.1773GAA[2] (p.Lys594del)
|
rs886044115
|
|
NM_001378615.1(CC2D2A):c.179C>T (p.Pro60Leu)
|
rs566035797
|
|
NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val)
|
rs747187783
|
|
NM_001378615.1(CC2D2A):c.1846C>G (p.Leu616Val)
|
rs1560171700
|
|
NM_001378615.1(CC2D2A):c.1866A>C (p.Pro622=)
|
rs1560171734
|
|
NM_001378615.1(CC2D2A):c.1881G>A (p.Arg627=)
|
rs1718228986
|
|
NM_001378615.1(CC2D2A):c.1932G>T (p.Arg644Ser)
|
rs1560171818
|
|
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met)
|
rs201884883
|
|
NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=)
|
rs550913315
|
|
NM_001378615.1(CC2D2A):c.1965C>G (p.Ser655Arg)
|
rs895786252
|
|
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.199del (p.Glu67fs)
|
rs1433294475
|
|
NM_001378615.1(CC2D2A):c.2003+720G>A
|
|
|
NM_001378615.1(CC2D2A):c.211C>T (p.Arg71Cys)
|
|
|
NM_001378615.1(CC2D2A):c.2181+9T>C
|
rs1577360769
|
|
NM_001378615.1(CC2D2A):c.2182-3C>T
|
rs1560177957
|
|
NM_001378615.1(CC2D2A):c.2182-9_2182-8delinsAA
|
rs1560177950
|
|
NM_001378615.1(CC2D2A):c.2196C>T (p.Val732=)
|
rs764246302
|
|
NM_001378615.1(CC2D2A):c.2209C>A (p.Pro737Thr)
|
rs1560177991
|
|
NM_001378615.1(CC2D2A):c.2302C>T (p.Gln768Ter)
|
|
|
NM_001378615.1(CC2D2A):c.247+452C>T
|
|
|
NM_001378615.1(CC2D2A):c.247+553G>A
|
rs10049920
|
|
NM_001378615.1(CC2D2A):c.248-2A>T
|
rs779437509
|
|
NM_001378615.1(CC2D2A):c.248-57TTTTC[3]
|
rs144502190
|
|
NM_001378615.1(CC2D2A):c.2482C>T (p.Arg828Trp)
|
rs749997192
|
|
NM_001378615.1(CC2D2A):c.2486+143_2486+157del
|
rs146708633
|
|
NM_001378615.1(CC2D2A):c.2501C>A (p.Ala834Glu)
|
rs1560180119
|
|
NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter)
|
rs1560180188
|
|
NM_001378615.1(CC2D2A):c.2625+2T>C
|
rs1449972974
|
|
NM_001378615.1(CC2D2A):c.2653C>A (p.Pro885Thr)
|
rs1560181421
|
|
NM_001378615.1(CC2D2A):c.2653C>T (p.Pro885Ser)
|
rs1560181421
|
|
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)
|
rs764719093
|
|
NM_001378615.1(CC2D2A):c.2728C>T (p.Arg910Ter)
|
rs781206278
|
|
NM_001378615.1(CC2D2A):c.2737C>T (p.Leu913Phe)
|
|
|
NM_001378615.1(CC2D2A):c.2922+10dup
|
rs752271495
|
|
NM_001378615.1(CC2D2A):c.2924T>A (p.Val975Asp)
|
rs1560183164
|
|
NM_001378615.1(CC2D2A):c.2940A>C (p.Ile980=)
|
rs1560183177
|
|
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.2993AAG[2] (p.Glu1000del)
|
rs764874938
|
|
NM_001378615.1(CC2D2A):c.3020T>C (p.Leu1007Ser)
|
rs1553839640
|
|
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.311T>A (p.Met104Lys)
|
rs2108998358
|
|
NM_001378615.1(CC2D2A):c.3141T>C (p.Ile1047=)
|
rs1553839718
|
|
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.3159T>G (p.Ile1053Met)
|
|
|
NM_001378615.1(CC2D2A):c.3233C>T (p.Ala1078Val)
|
rs1437673943
|
|
NM_001378615.1(CC2D2A):c.3250T>A (p.Tyr1084Asn)
|
rs751234041
|
|
NM_001378615.1(CC2D2A):c.3258A>C (p.Pro1086=)
|
rs1560186736
|
|
NM_001378615.1(CC2D2A):c.3260C>T (p.Thr1087Ile)
|
rs1577382579
|
|
NM_001378615.1(CC2D2A):c.3283G>A (p.Gly1095Ser)
|
rs181260724
|
|
NM_001378615.1(CC2D2A):c.3289-2del
|
rs774235067
|
|
NM_001378615.1(CC2D2A):c.3320T>G (p.Phe1107Cys)
|
rs886041156
|
|
NM_001378615.1(CC2D2A):c.336+120G>C
|
rs142389729
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378615.1(CC2D2A):c.337-2A>C
|
|
|
NM_001378615.1(CC2D2A):c.352G>A (p.Ala118Thr)
|
rs1214212437
|
|
NM_001378615.1(CC2D2A):c.3536A>T (p.Glu1179Val)
|
rs1560188280
|
|
NM_001378615.1(CC2D2A):c.3545G>A (p.Trp1182Ter)
|
rs1560188288
|
|
NM_001378615.1(CC2D2A):c.3594+273_3594+304del
|
rs368099911
|
|
NM_001378615.1(CC2D2A):c.3617A>G (p.Asp1206Gly)
|
rs1560189957
|
|
NM_001378615.1(CC2D2A):c.3652C>T (p.Arg1218Ter)
|
rs375278294
|
|
NM_001378615.1(CC2D2A):c.3679_3682del (p.Asp1227fs)
|
|
|
NM_001378615.1(CC2D2A):c.3736C>T (p.Pro1246Ser)
|
rs1318619045
|
|
NM_001378615.1(CC2D2A):c.3771+1G>C
|
rs1560190091
|
|
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.395G>A (p.Arg132Gln)
|
rs772016081
|
|
NM_001378615.1(CC2D2A):c.3975+2dup
|
rs1560192764
|
|
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.4065+2T>C
|
rs1179041639
|
|
NM_001378615.1(CC2D2A):c.4066-125C>G
|
rs6449150
|
|
NM_001378615.1(CC2D2A):c.4066-12del
|
rs752759735
|
|
NM_001378615.1(CC2D2A):c.4066-5G>T
|
rs1355004331
|
|
NM_001378615.1(CC2D2A):c.4166A>G (p.Asn1389Ser)
|
|
|
NM_001378615.1(CC2D2A):c.4179+1G>A
|
rs886044295
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001378615.1(CC2D2A):c.4213G>A (p.Gly1405Ser)
|
|
|
NM_001378615.1(CC2D2A):c.4244G>T (p.Gly1415Val)
|
|
|
NM_001378615.1(CC2D2A):c.428T>G (p.Phe143Cys)
|
|
|
NM_001378615.1(CC2D2A):c.4295_4298del (p.Gly1431_Cys1432insTer)
|
rs1560196436
|
|
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.438G>A (p.Glu146=)
|
rs1215345163
|
|
NM_001378615.1(CC2D2A):c.4396_4400del (p.Phe1466fs)
|
rs1176927796
|
|
NM_001378615.1(CC2D2A):c.4437+1G>A
|
rs786205568
|
|
NM_001378615.1(CC2D2A):c.4437+223_4437+224dup
|
rs35816693
|
|
NM_001378615.1(CC2D2A):c.4438C>T (p.Pro1480Ser)
|
rs794727589
|
|
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)
|
rs797045437
|
|
NM_001378615.1(CC2D2A):c.4489C>T (p.Gln1497Ter)
|
rs1553845302
|
|
NM_001378615.1(CC2D2A):c.4491A>G (p.Gln1497=)
|
rs863225179
|
|
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)
|
rs1721483506
|
|
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.4728C>T (p.Asp1576=)
|
rs774919996
|
|
NM_001378615.1(CC2D2A):c.4814dup (p.Asn1605fs)
|
|
|
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs)
|
rs863225175
|
|
NM_001378615.1(CC2D2A):c.4858A>C (p.Arg1620=)
|
rs774187754
|
|
NM_001378615.1(CC2D2A):c.4863A>T (p.Ter1621Tyr)
|
rs1553845963
|
|
NM_001378615.1(CC2D2A):c.551G>A (p.Gly184Asp)
|
|
|
NM_001378615.1(CC2D2A):c.551G>C (p.Gly184Ala)
|
|
|
NM_001378615.1(CC2D2A):c.565G>A (p.Glu189Lys)
|
rs1560157691
|
|
NM_001378615.1(CC2D2A):c.62delinsTC (p.Asp21fs)
|
rs1577309042
|
|
NM_001378615.1(CC2D2A):c.644G>T (p.Arg215Ile)
|
rs756061892
|
|
NM_001378615.1(CC2D2A):c.646G>C (p.Ala216Pro)
|
|
|
NM_001378615.1(CC2D2A):c.663GGA[2] (p.Glu224del)
|
rs1553825978
|
|
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.770T>G (p.Leu257Ter)
|
|
|
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs)
|
rs386833765
|
|
NM_001378615.1(CC2D2A):c.868A>T (p.Ser290Cys)
|
rs1553826739
|
|
NM_001378615.1(CC2D2A):c.951G>A (p.Gly317=)
|
rs762984980
|
|
NM_001378615.1(CC2D2A):c.981G>A (p.Gln327=)
|
rs556015115
|
|