|
NM_001378615.1(CC2D2A):c.4065+28A>T
|
rs6832789
|
0.95451
|
|
NM_001378615.1(CC2D2A):c.247+26A>G
|
rs10000250
|
0.85216
|
|
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.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.3595-22C>T
|
rs4280724
|
0.26375
|
|
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=)
|
rs73125627
|
0.20422
|
|
NM_001378615.1(CC2D2A):c.124-6C>T
|
rs1861049
|
0.15686
|
|
NM_001378615.1(CC2D2A):c.2182-24C>T
|
rs2041673
|
0.13698
|
|
NM_001378615.1(CC2D2A):c.2830-38G>T
|
rs35309200
|
0.12892
|
|
NM_001378615.1(CC2D2A):c.2003+19C>T
|
rs17476642
|
0.09677
|
|
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)
|
rs1861050
|
0.07770
|
|
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.721G>A (p.Glu241Lys)
|
rs62000428
|
0.00732
|
|
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.-18-2673G>A
|
rs183968785
|
0.00636
|
|
NM_001378615.1(CC2D2A):c.-87G>A
|
rs145443888
|
0.00305
|
|
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.4202C>G (p.Thr1401Ser)
|
rs143947747
|
0.00194
|
|
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.-47G>A
|
rs778112215
|
0.00100
|
|
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.*45G>C
|
rs372449768
|
0.00057
|
|
NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter)
|
rs116358011
|
0.00057
|
|
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.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.3399-15T>C
|
rs181612746
|
0.00033
|
|
NM_001378615.1(CC2D2A):c.613G>A (p.Gly205Arg)
|
rs147499316
|
0.00031
|
|
NM_001378615.1(CC2D2A):c.4315-13T>C
|
rs377685137
|
0.00030
|
|
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.2259C>T (p.Val753=)
|
rs538922641
|
0.00023
|
|
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.2882T>C (p.Ile961Thr)
|
rs76626268
|
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.123+19C>T
|
rs142821756
|
0.00015
|
|
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.718-10C>T
|
rs182383712
|
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.3288+3G>A
|
rs372903309
|
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.865C>A (p.Pro289Thr)
|
rs371405756
|
0.00014
|
|
NM_001378615.1(CC2D2A):c.2431G>A (p.Glu811Lys)
|
rs201303853
|
0.00013
|
|
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.2595C>T (p.Pro865=)
|
rs770469717
|
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.717+11T>C
|
rs184351317
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.784G>A (p.Asp262Asn)
|
rs758661538
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)
|
rs201439617
|
0.00010
|
|
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=)
|
rs756341605
|
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.4818T>C (p.Val1606=)
|
rs373897309
|
0.00010
|
|
NM_001378615.1(CC2D2A):c.837G>A (p.Leu279=)
|
rs771694343
|
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.2182-8G>A
|
rs370731685
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.2437G>A (p.Gly813Arg)
|
rs375167917
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu)
|
rs200904521
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.3772-4G>A
|
rs369928983
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr)
|
rs370492044
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.3972T>C (p.Thr1324=)
|
rs201357637
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.4314+12C>T
|
rs775304664
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=)
|
rs200434902
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.847A>C (p.Arg283=)
|
rs201649290
|
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.1341G>A (p.Ala447=)
|
rs376651324
|
0.00008
|
|
NM_001378615.1(CC2D2A):c.2003+15C>T
|
rs780860390
|
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.2192C>T (p.Thr731Ile)
|
rs758339439
|
0.00007
|
|
NM_001378615.1(CC2D2A):c.3652C>A (p.Arg1218=)
|
rs375278294
|
0.00007
|
|
NM_001378615.1(CC2D2A):c.379C>T (p.Arg127Trp)
|
rs145945939
|
0.00007
|
|
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)
|
rs146843542
|
0.00007
|
|
NM_001378615.1(CC2D2A):c.4314+6T>C
|
rs764971650
|
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.1038T>C (p.Asp346=)
|
rs377679382
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.123+12C>A
|
rs547389759
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.1466+3G>A
|
rs574767203
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.1553C>A (p.Ser518Tyr)
|
rs375633207
|
0.00006
|
|
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.647C>T (p.Ala216Val)
|
rs768733110
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.898C>T (p.Leu300Phe)
|
rs779150444
|
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.1193G>A (p.Gly398Glu)
|
rs200429882
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.1268G>A (p.Arg423Gln)
|
rs780924556
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.1360-11G>A
|
rs181633376
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.157G>A (p.Glu53Lys)
|
rs373080748
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.1645G>A (p.Glu549Lys)
|
rs368788560
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=)
|
rs199909714
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.282C>T (p.Gly94=)
|
rs182119485
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.3514A>G (p.Ser1172Gly)
|
rs371924209
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.3618T>A (p.Asp1206Glu)
|
rs766400907
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.4540C>T (p.Arg1514Cys)
|
rs756324214
|
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.1091C>T (p.Pro364Leu)
|
rs768618373
|
0.00004
|
|
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.1422C>T (p.Leu474=)
|
rs377448964
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.1546A>G (p.Met516Val)
|
rs751646059
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.1728G>A (p.Thr576=)
|
rs373277928
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.1859G>A (p.Ser620Asn)
|
rs373797532
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.1895A>C (p.Gln632Pro)
|
rs777510836
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2090T>C (p.Val697Ala)
|
rs766282869
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2101C>G (p.Leu701Val)
|
rs537906621
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2181+6C>T
|
rs997637353
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2339-15C>G
|
rs763052758
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.243A>G (p.Pro81=)
|
rs766042434
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2441T>C (p.Ile814Thr)
|
rs369305472
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2626-11G>A
|
rs756555172
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)
|
rs563610095
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2843G>A (p.Arg948Gln)
|
rs532411276
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu)
|
rs370014549
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln)
|
rs770896540
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.308G>A (p.Arg103His)
|
rs566281691
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.3501C>T (p.Asp1167=)
|
rs779304750
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.3640T>C (p.Tyr1214His)
|
rs759970546
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.3643A>G (p.Ser1215Gly)
|
rs765661601
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.4116G>A (p.Leu1372=)
|
rs766991790
|
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.4452T>A (p.Ile1484=)
|
rs373762896
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.4766C>G (p.Pro1589Arg)
|
rs374301736
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.518G>A (p.Arg173Gln)
|
rs745699870
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.541G>A (p.Val181Ile)
|
rs745646755
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys)
|
rs376969878
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.1093C>G (p.Pro365Ala)
|
rs375385399
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.10A>G (p.Arg4Gly)
|
rs758963962
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.1153G>A (p.Val385Ile)
|
rs1401215213
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.1426A>G (p.Thr476Ala)
|
rs777726035
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.1451A>G (p.Tyr484Cys)
|
rs746279803
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.192G>A (p.Val64=)
|
rs745986665
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2004-12C>A
|
rs141372003
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2083A>C (p.Arg695=)
|
rs750219979
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2141A>G (p.Asn714Ser)
|
rs771224275
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2181+17T>C
|
rs1016233369
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=)
|
rs1379770755
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys)
|
rs751808973
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2387T>G (p.Met796Arg)
|
rs367560550
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2487-17T>C
|
rs909380640
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.248G>A (p.Ser83Asn)
|
rs930307925
|
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.2922+16T>C
|
rs767460385
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.3084G>C (p.Arg1028=)
|
rs373698524
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.3153C>T (p.Tyr1051=)
|
rs373671064
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met)
|
rs386833752
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.3631C>G (p.Leu1211Val)
|
rs753905430
|
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.3975+19A>G
|
rs758410900
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.4194T>C (p.Tyr1398=)
|
rs752902174
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter)
|
rs529437224
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.439-13T>G
|
rs1305181844
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg)
|
rs587779732
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.4652T>C (p.Leu1551Pro)
|
rs763425007
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.4738A>G (p.Ser1580Gly)
|
rs377460557
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.4762G>A (p.Val1588Ile)
|
rs1323627048
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val)
|
rs200044412
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.948C>T (p.Thr316=)
|
rs201439700
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.1000T>C (p.Leu334=)
|
rs780534369
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter)
|
rs896947430
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1017C>T (p.Pro339=)
|
rs777522814
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1081C>T (p.Pro361Ser)
|
rs748850069
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1140G>A (p.Leu380=)
|
rs373742688
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1198C>G (p.Pro400Ala)
|
rs759074579
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1444A>G (p.Asn482Asp)
|
rs777022662
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=)
|
rs368116362
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.152T>C (p.Val51Ala)
|
rs375163284
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.166C>T (p.His56Tyr)
|
rs758324715
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1701C>T (p.Tyr567=)
|
rs769840882
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu)
|
rs543650388
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1809C>T (p.Pro603=)
|
rs778968413
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1820T>C (p.Ile607Thr)
|
rs771221391
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1829C>T (p.Pro610Leu)
|
rs376457814
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg)
|
rs1718235188
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2003+16G>A
|
rs746051826
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2025G>C (p.Glu675Asp)
|
rs756383263
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2088A>G (p.Thr696=)
|
rs760615867
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2286G>A (p.Val762=)
|
rs1204225662
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2289G>A (p.Glu763=)
|
rs769073033
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2310G>C (p.Val770=)
|
rs751676654
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2338+16A>G
|
rs777390329
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2385G>C (p.Leu795=)
|
rs754272410
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2409T>C (p.His803=)
|
rs780868022
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.245G>A (p.Arg82Gln)
|
rs527974001
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2593C>T (p.Pro865Ser)
|
rs1376846940
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2626-12C>T
|
rs571780110
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp)
|
rs541135799
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2641G>C (p.Glu881Gln)
|
rs760405029
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2736G>C (p.Arg912Ser)
|
rs1471618183
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2830-18G>A
|
rs969121617
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2842C>T (p.Arg948Trp)
|
rs563295435
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2864T>C (p.Ile955Thr)
|
rs779465688
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2904A>T (p.Val968=)
|
rs1457559560
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3014+11T>C
|
rs760477116
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3015-11G>A
|
rs757678311
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3054G>A (p.Lys1018=)
|
rs377575861
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3082C>T (p.Arg1028Trp)
|
rs770004990
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3132G>A (p.Leu1044=)
|
rs929422473
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3183-17T>C
|
rs961448334
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3199T>C (p.Ser1067Pro)
|
rs781259863
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3230_3232dup (p.His1077_Ala1078insAsp)
|
rs756426571
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3256C>A (p.Pro1086Thr)
|
rs756918920
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3298C>T (p.Arg1100Cys)
|
rs767086890
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
|
rs760676442
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3374A>G (p.Asn1125Ser)
|
rs746358327
|
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.3670C>T (p.Arg1224Trp)
|
rs369648324
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter)
|
rs1022325907
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3771+11A>C
|
rs955623216
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3773T>C (p.Phe1258Ser)
|
rs1485903880
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln)
|
rs748886997
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)
|
rs779823379
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser)
|
rs745599580
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4080C>T (p.Leu1360=)
|
rs777093551
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4345C>G (p.Pro1449Ala)
|
rs375410796
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His)
|
rs886940102
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4635C>A (p.Asp1545Glu)
|
rs776642347
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4688C>G (p.Pro1563Arg)
|
rs886059186
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4724T>C (p.Ile1575Thr)
|
rs551243983
|
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.566A>G (p.Glu189Gly)
|
rs762024789
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.56A>T (p.Asp19Val)
|
rs1403239059
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.648G>A (p.Ala216=)
|
rs1415780433
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.778G>A (p.Val260Met)
|
rs918403472
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.823A>G (p.Ile275Val)
|
rs368471984
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.891T>C (p.Tyr297=)
|
rs797045438
|
0.00002
|
|
NM_001080522.2(CC2D2A):c.*144A>C
|
rs920755267
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.*94T>C
|
rs1296848672
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1018-11T>C
|
rs200340261
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1018-12C>T
|
rs375602687
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1019A>C (p.Glu340Ala)
|
rs1450279703
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1027T>C (p.Trp343Arg)
|
rs1222588033
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1057C>T (p.Leu353=)
|
rs1365896129
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.108G>A (p.Gln36=)
|
rs886044284
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1123G>C (p.Ala375Pro)
|
rs759668652
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1150-4G>A
|
rs956757805
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1179T>G (p.His393Gln)
|
rs368203865
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1197C>A (p.Asp399Glu)
|
rs1019784141
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1209T>C (p.Asn403=)
|
rs764983506
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1222A>G (p.Ile408Val)
|
rs1196012902
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter)
|
rs757208121
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1299G>A (p.Gln433=)
|
rs1717581475
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1409C>G (p.Pro470Arg)
|
rs370978967
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1466G>A (p.Arg489Gln)
|
rs1300362447
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1483C>T (p.Arg495Cys)
|
rs754391657
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.149T>C (p.Met50Thr)
|
rs765810643
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1501A>G (p.Lys501Glu)
|
rs759556765
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1506T>C (p.Asp502=)
|
rs765072025
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1515G>A (p.Leu505=)
|
rs1188194101
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1536T>C (p.Val512=)
|
rs1182295220
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)
|
rs781252161
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1672G>A (p.Glu558Lys)
|
rs766924214
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1677G>C (p.Leu559=)
|
rs1560170993
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr)
|
rs368669579
|
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.1799A>C (p.Glu600Ala)
|
rs779393473
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1810G>A (p.Gly604Ser)
|
rs747935651
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1836C>T (p.Pro612=)
|
rs763567590
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1855C>T (p.Pro619Ser)
|
rs1427654469
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1858A>G (p.Ser620Gly)
|
rs760215716
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1863T>G (p.Pro621=)
|
rs1325653391
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1871C>T (p.Pro624Leu)
|
rs947493633
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1880G>A (p.Arg627Gln)
|
rs752576142
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1882G>A (p.Ala628Thr)
|
rs1229418241
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1927A>C (p.Arg643=)
|
rs1048216556
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1948C>G (p.Leu650Val)
|
rs1382964089
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1952T>A (p.Val651Asp)
|
rs762298895
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1955C>T (p.Pro652Leu)
|
rs759126033
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2004-17A>G
|
rs759192059
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2015C>T (p.Ser672Leu)
|
rs529497661
|
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.2077G>A (p.Val693Met)
|
rs1402828879
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2095C>T (p.Arg699Trp)
|
rs754058720
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2103A>G (p.Leu701=)
|
rs1236071005
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2133G>C (p.Gln711His)
|
rs886059139
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2162C>T (p.Pro721Leu)
|
rs533830027
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2181+3A>G
|
rs1718406239
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2182G>T (p.Val728Phe)
|
rs752814776
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2184C>T (p.Val728=)
|
rs1718959533
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2206A>T (p.Ser736Cys)
|
rs1308459948
|
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.233G>A (p.Arg78Gln)
|
rs762718210
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2399A>G (p.Lys800Arg)
|
rs1287026947
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2400A>G (p.Lys800=)
|
rs371834330
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2404T>C (p.Ser802Pro)
|
rs1194338259
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2417C>T (p.Ala806Val)
|
rs769808709
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2436C>T (p.Asn812=)
|
rs200973968
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.247+8C>T
|
rs1279815589
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.248-15G>A
|
rs756298299
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2486+18T>C
|
rs1395000705
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2486+1G>C
|
rs386833747
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2486+8A>G
|
rs749186859
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2487-6T>C
|
rs767335431
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe)
|
rs765820512
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2526A>G (p.Thr842=)
|
rs886059158
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2534T>C (p.Leu845Pro)
|
rs1481526699
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2580C>T (p.Leu860=)
|
rs955087884
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2605C>A (p.Pro869Thr)
|
rs772863864
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2625G>A (p.Ser875=)
|
rs765873247
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2652C>G (p.Val884=)
|
rs944541785
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2715A>C (p.Leu905Phe)
|
rs1394929452
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.275G>A (p.Arg92Lys)
|
rs1342506197
|
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.279A>G (p.Thr93=)
|
rs987594766
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.280G>C (p.Gly94Arg)
|
rs1435144536
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2829+20G>A
|
rs751376075
|
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.2891A>G (p.His964Arg)
|
rs1273769297
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2902G>A (p.Val968Ile)
|
rs1369320518
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2918A>T (p.Gln973Leu)
|
rs1321218611
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2923-9T>C
|
rs753188706
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2994A>G (p.Glu998=)
|
rs1044670589
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)
|
rs773881370
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3008A>G (p.Asn1003Ser)
|
rs376663620
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3015-9A>C
|
rs1010285962
|
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.3076A>G (p.Lys1026Glu)
|
rs759702917
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.307C>T (p.Arg103Cys)
|
rs367699902
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3114T>C (p.Asp1038=)
|
rs781371086
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3115G>A (p.Gly1039Arg)
|
rs1358156436
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3126G>A (p.Lys1042=)
|
rs767804652
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala)
|
rs863225173
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3144G>A (p.Val1048=)
|
rs1185288924
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3146G>A (p.Arg1049Gln)
|
rs1192970855
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3154G>A (p.Asp1052Asn)
|
rs1055487228
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3174G>A (p.Pro1058=)
|
rs769474903
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3183-5C>T
|
rs763724257
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3197C>T (p.Pro1066Leu)
|
rs556931817
|
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.3249G>A (p.Thr1083=)
|
rs200431110
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3263A>C (p.His1088Pro)
|
rs1295889715
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3272A>T (p.Asp1091Val)
|
rs763775613
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3289-11_3289-10del
|
rs770737692
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.333G>A (p.Ala111=)
|
rs200273579
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3348G>A (p.Thr1116=)
|
rs758507321
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.337-13T>C
|
rs754124890
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3376G>A (p.Glu1126Lys)
|
rs1473532901
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3398+7A>G
|
rs772784324
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3401C>T (p.Ala1134Val)
|
rs375903728
|
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.3424G>C (p.Ala1142Pro)
|
rs1277091809
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3458T>C (p.Ile1153Thr)
|
rs1410133502
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3495G>A (p.Glu1165=)
|
rs374241960
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3524A>G (p.His1175Arg)
|
rs886059184
|
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.3595-11T>A
|
rs1476484459
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3610A>C (p.Lys1204Gln)
|
rs1409153766
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3671G>A (p.Arg1224Gln)
|
rs892274416
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3712A>G (p.Ile1238Val)
|
rs964134322
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3763C>T (p.Arg1255Ter)
|
rs1271825377
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3772-5_3772-4del
|
rs1484994421
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.383C>T (p.Pro128Leu)
|
rs768439693
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3851G>A (p.Arg1284His)
|
rs754586025
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.39+13_39+15dup
|
rs1714188068
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.39+7G>A
|
rs1389256356
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.39+8G>A
|
rs768894327
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3988C>T (p.Arg1330Ter)
|
rs758036385
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)
|
rs763486732
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3996G>A (p.Val1332=)
|
rs751553707
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4048C>T (p.Leu1350Phe)
|
rs780313255
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4055G>A (p.Ser1352Asn)
|
rs749491270
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4065+9T>C
|
rs748709735
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4066-7T>C
|
rs778478305
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4155G>A (p.Leu1385=)
|
rs371862849
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4178A>C (p.Glu1393Ala)
|
rs1258451179
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4180-5T>C
|
rs766234817
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4197G>A (p.Val1399=)
|
rs897543991
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4200A>G (p.Leu1400=)
|
rs1720998446
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4209G>T (p.Glu1403Asp)
|
rs751624828
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4217G>A (p.Arg1406His)
|
rs369001837
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.42G>A (p.Glu14=)
|
rs1455738671
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4315-8T>C
|
rs370982819
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4326T>C (p.Asn1442=)
|
rs780298185
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.438+1G>A
|
rs1453265480
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.438+9T>C
|
rs775606863
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg)
|
rs368720062
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.439-5T>A
|
rs369244755
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4396T>G (p.Phe1466Val)
|
rs1170583979
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4400C>T (p.Ser1467Leu)
|
rs1041487733
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4438-4A>G
|
rs1463104948
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4460dup (p.Ser1488fs)
|
rs1560199860
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4467C>T (p.Asp1489=)
|
rs1229562320
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4496+12T>G
|
rs754326845
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4496+2T>C
|
rs386833762
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4526T>C (p.Met1509Thr)
|
rs760863691
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4550C>G (p.Thr1517Ser)
|
rs780673487
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4551T>C (p.Thr1517=)
|
rs756862259
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)
|
rs118204052
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4599G>A (p.Leu1533=)
|
rs556117615
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4600T>G (p.Leu1534Val)
|
rs778858648
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4640G>A (p.Arg1547Lys)
|
rs760048536
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4674+13T>C
|
rs1216887028
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4674+3A>T
|
rs754534791
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4675-12T>G
|
rs769761582
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4675-14T>A
|
rs766203266
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4675-1G>C
|
rs764806176
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4680T>C (p.Ser1560=)
|
rs752706778
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4697T>C (p.Met1566Thr)
|
rs762773515
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4747G>A (p.Val1583Ile)
|
rs371196379
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4759G>T (p.Asp1587Tyr)
|
rs1378734767
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4763T>C (p.Val1588Ala)
|
rs572716623
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4862A>G (p.Ter1621=)
|
rs761690020
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)
|
rs386833763
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.541-5G>A
|
rs369022150
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.541-6C>T
|
rs757151024
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.55G>C (p.Asp19His)
|
rs755345164
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.576T>C (p.Tyr192=)
|
rs536646769
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.579C>G (p.Asn193Lys)
|
rs761117385
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.590T>C (p.Phe197Ser)
|
rs200761243
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.634G>C (p.Ala212Pro)
|
rs965986708
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.695C>A (p.Ala232Glu)
|
rs779245267
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.707G>A (p.Gly236Glu)
|
rs773437112
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.712G>T (p.Glu238Ter)
|
rs761213221
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.717+8A>G
|
rs1716564777
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.779T>C (p.Val260Ala)
|
rs1440700780
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.787G>A (p.Asp263Asn)
|
rs747042723
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.7C>A (p.Pro3Thr)
|
rs745734694
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.832C>A (p.Arg278=)
|
rs372873919
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp)
|
rs372873919
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.833G>A (p.Arg278Gln)
|
rs775794635
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.857T>C (p.Leu286Pro)
|
rs776020343
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.880+7G>A
|
rs1445614932
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.880G>C (p.Val294Leu)
|
rs201986486
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.913C>T (p.Gln305Ter)
|
rs1158349299
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.930A>G (p.Glu310=)
|
rs1256968285
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.958C>T (p.Pro320Ser)
|
rs374098727
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.964G>A (p.Val322Met)
|
rs1010349592
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.969A>G (p.Ala323=)
|
rs763921042
|
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_001378615.1(CC2D2A):c.97G>A (p.Val33Ile)
|
rs745409806
|
0.00001
|
|
NC_000004.11:g.(?_15477537)_(15603068_?)del
|
|
|
|
NC_000004.11:g.(?_15477557)_(15477615_?)del
|
|
|
|
NC_000004.11:g.(?_15477557)_(15482471_?)del
|
|
|
|
NC_000004.11:g.(?_15477557)_(15504566_?)del
|
|
|
|
NC_000004.11:g.(?_15478346)_(15482422_?)del
|
|
|
|
NC_000004.11:g.(?_15480327)_(15482471_?)del
|
|
|
|
NC_000004.11:g.(?_15480341)_(15482457_?)del
|
|
|
|
NC_000004.11:g.(?_15482308)_(15482471_?)dup
|
|
|
|
NC_000004.11:g.(?_15482308)_(15560900_?)del
|
|
|
|
NC_000004.11:g.(?_15504032)_(15513066_?)del
|
|
|
|
NC_000004.11:g.(?_15511794)_(15573510_?)del
|
|
|
|
NC_000004.11:g.(?_15529050)_(15530369_?)del
|
|
|
|
NC_000004.11:g.(?_15529050)_(15554948_?)del
|
|
|
|
NC_000004.11:g.(?_15554761)_(15556853_?)del
|
|
|
|
NC_000004.11:g.(?_15565496)_(15581640_?)del
|
|
|
|
NC_000004.11:g.(?_15568980)_(15569429_?)del
|
|
|
|
NC_000004.11:g.(?_15599010)_(15603048_?)del
|
|
|
|
NC_000004.11:g.15589466_15589468delGAA
|
rs794729225
|
|
|
NC_000004.11:g.15601250_15601251delCT
|
rs794729226
|
|
|
NC_000004.12:g.(?_15478723)_(15480827_?)del
|
|
|
|
NC_000004.12:g.(?_15540837)_(15541014_?)del
|
|
|
|
NC_000004.12:g.15574152_15574155del
|
|
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
|
NM_001378615.1(CC2D2A):c.-178T>C
|
rs886059135
|
|
|
NM_001378615.1(CC2D2A):c.1002G>A (p.Leu334=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1005G>A (p.Leu335=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1014C>T (p.Asp338=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1017+11A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1017+12C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1017+13C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1017+14C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1017+19C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1017+3A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1017+5G>A
|
rs2109012967
|
|
|
NM_001378615.1(CC2D2A):c.1017+7G>T
|
rs137919504
|
|
|
NM_001378615.1(CC2D2A):c.1018-14T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.1018-18C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1018-1G>A
|
rs1716886666
|
|
|
NM_001378615.1(CC2D2A):c.1018-20T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1018-5T>G
|
rs2109013647
|
|
|
NM_001378615.1(CC2D2A):c.1018-6C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1018-6del
|
rs2109013642
|
|
|
NM_001378615.1(CC2D2A):c.1018-9C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1026A>G (p.Arg342=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1035A>C (p.Gly345=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1042G>A (p.Gly348Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.1044C>T (p.Gly348=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1049T>C (p.Ile350Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.1068C>T (p.Pro356=)
|
rs2109013744
|
|
|
NM_001378615.1(CC2D2A):c.1071C>T (p.Ile357=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1091C>G (p.Pro364Arg)
|
rs768618373
|
|
|
NM_001378615.1(CC2D2A):c.1092G>A (p.Pro364=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1092G>T (p.Pro364=)
|
rs774216288
|
|
|
NM_001378615.1(CC2D2A):c.1096G>C (p.Val366Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.1098A>T (p.Val366=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1101A>G (p.Leu367=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1102A>G (p.Thr368Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.1105C>T (p.Gln369Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.1110G>A (p.Glu370=)
|
rs1289826078
|
|
|
NM_001378615.1(CC2D2A):c.1117A>G (p.Ile373Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.111A>T (p.Pro37=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1122G>A (p.Lys374=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1126G>C (p.Glu376Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val)
|
rs16892095
|
|
|
NM_001378615.1(CC2D2A):c.1127_1128delinsCA (p.Glu376Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.1139T>C (p.Leu380Pro)
|
|
|
|
NM_001378615.1(CC2D2A):c.113G>A (p.Arg38Lys)
|
rs2108970106
|
|
|
NM_001378615.1(CC2D2A):c.1149+10C>T
|
rs752000548
|
|
|
NM_001378615.1(CC2D2A):c.1149+15C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1149+19C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1149+19C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1150-13C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1150-13C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1150-15dup
|
|
|
|
NM_001378615.1(CC2D2A):c.1160dup (p.Tyr387Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.1161C>T (p.Tyr387=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1182G>A (p.Val394=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1182G>C (p.Val394=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1188A>G (p.Arg396=)
|
rs2109023994
|
|
|
NM_001378615.1(CC2D2A):c.1190C>T (p.Ser397Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.1196A>C (p.Asp399Ala)
|
rs2109024009
|
|
|
NM_001378615.1(CC2D2A):c.119A>C (p.Lys40Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.119A>G (p.Lys40Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.1203T>C (p.Pro401=)
|
rs940435544
|
|
|
NM_001378615.1(CC2D2A):c.1218G>C (p.Leu406=)
|
|
|
|
NM_001378615.1(CC2D2A):c.121C>T (p.Gln41Ter)
|
rs2108970120
|
|
|
NM_001378615.1(CC2D2A):c.1229T>C (p.Ile410Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.123+16A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.123+23_123+24del
|
rs960925783
|
|
|
NM_001378615.1(CC2D2A):c.123+2T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.123+9T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1236G>C (p.Gly412=)
|
|
|
|
NM_001378615.1(CC2D2A):c.124-13C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.124-14C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.124-18C>T
|
rs1162714204
|
|
|
NM_001378615.1(CC2D2A):c.124-1G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.124-9T>C
|
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|
NM_001378615.1(CC2D2A):c.124-9_124-7del
|
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|
NM_001378615.1(CC2D2A):c.1247C>T (p.Thr416Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.1260T>G (p.Cys420Trp)
|
rs751436798
|
|
|
NM_001378615.1(CC2D2A):c.1263_1264insGGCATGTTTTGGC (p.Ser422fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.1264_1268delinsGGCATGTTTTGGCAGCCA (p.Ser422fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.1266C>G (p.Ser422Arg)
|
rs1229319521
|
|
|
NM_001378615.1(CC2D2A):c.1269A>T (p.Arg423=)
|
rs745715017
|
|
|
NM_001378615.1(CC2D2A):c.1275T>C (p.His425=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1281G>A (p.Leu427=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1287C>A (p.Ala429=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs)
|
rs1560166511
|
|
|
NM_001378615.1(CC2D2A):c.1297del (p.Gln433fs)
|
rs1560166488
|
|
|
NM_001378615.1(CC2D2A):c.12G>A (p.Arg4=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1305T>C (p.Tyr435=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1307A>T (p.Asp436Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.130A>G (p.Thr44Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.1312T>C (p.Tyr438His)
|
|
|
|
NM_001378615.1(CC2D2A):c.1326C>A (p.His442Gln)
|
rs1284018435
|
|
|
NM_001378615.1(CC2D2A):c.1331G>A (p.Arg444Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs)
|
rs386833745
|
|
|
NM_001378615.1(CC2D2A):c.1350T>C (p.Leu450=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1354G>A (p.Asp452Asn)
|
rs1443260159
|
|
|
NM_001378615.1(CC2D2A):c.1359+14C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1359+14C>T
|
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|
|
NM_001378615.1(CC2D2A):c.1359+19A>T
|
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|
|
NM_001378615.1(CC2D2A):c.1359+1G>C
|
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|
NM_001378615.1(CC2D2A):c.1359+7G>T
|
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|
|
NM_001378615.1(CC2D2A):c.1359+9G>T
|
rs369964702
|
|
|
NM_001378615.1(CC2D2A):c.1360-12T>A
|
rs1717637000
|
|
|
NM_001378615.1(CC2D2A):c.1360-13A>G
|
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|
|
NM_001378615.1(CC2D2A):c.1360-15C>G
|
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|
NM_001378615.1(CC2D2A):c.1360-8G>A
|
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|
NM_001378615.1(CC2D2A):c.1360-9C>T
|
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|
|
NM_001378615.1(CC2D2A):c.1360C>T (p.Leu454Phe)
|
rs868776328
|
|
|
NM_001378615.1(CC2D2A):c.1365A>G (p.Gln455=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1370T>A (p.Leu457Ter)
|
rs1131691659
|
|
|
NM_001378615.1(CC2D2A):c.1371A>C (p.Leu457Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.1377T>C (p.Asn459=)
|
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|
|
NM_001378615.1(CC2D2A):c.1392C>A (p.Gly464=)
|
rs755258233
|
|
|
NM_001378615.1(CC2D2A):c.1392C>G (p.Gly464=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1392C>T (p.Gly464=)
|
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|
|
NM_001378615.1(CC2D2A):c.1393C>T (p.Leu465Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=)
|
rs886059136
|
|
|
NM_001378615.1(CC2D2A):c.1421T>C (p.Leu474Pro)
|
|
|
|
NM_001378615.1(CC2D2A):c.1422C>G (p.Leu474=)
|
rs377448964
|
|
|
NM_001378615.1(CC2D2A):c.1423G>A (p.Asp475Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.1425T>C (p.Asp475=)
|
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|
|
NM_001378615.1(CC2D2A):c.1431C>A (p.Ile477=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1440del (p.Ile481fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.1452T>C (p.Tyr484=)
|
rs2109025199
|
|
|
NM_001378615.1(CC2D2A):c.1465C>A (p.Arg489=)
|
rs145678228
|
|
|
NM_001378615.1(CC2D2A):c.1465C>T (p.Arg489Ter)
|
rs145678228
|
|
|
NM_001378615.1(CC2D2A):c.1466+13T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.1466+14_1466+16del
|
rs751142207
|
|
|
NM_001378615.1(CC2D2A):c.1466+1G>A
|
|
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|
NM_001378615.1(CC2D2A):c.1466+2T>C
|
rs770219362
|
|
|
NM_001378615.1(CC2D2A):c.1466+4A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-11A>G
|
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|
|
NM_001378615.1(CC2D2A):c.1467-13T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-14A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-17G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-17G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-20T>C
|
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|
|
NM_001378615.1(CC2D2A):c.1467-21_1467-20del
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-4G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-7C>T
|
rs2109029775
|
|
|
NM_001378615.1(CC2D2A):c.1468C>T (p.Gln490Ter)
|
rs1288358527
|
|
|
NM_001378615.1(CC2D2A):c.1469A>G (p.Gln490Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.1485T>C (p.Arg495=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1494A>G (p.Glu498=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1498del (p.Glu500fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.149T>A (p.Met50Lys)
|
rs765810643
|
|
|
NM_001378615.1(CC2D2A):c.1511C>T (p.Thr504Ile)
|
rs1717945434
|
|
|
NM_001378615.1(CC2D2A):c.1512A>G (p.Thr504=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1524T>C (p.Thr508=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1526T>C (p.Ile509Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.1533A>T (p.Lys511Asn)
|
rs1577354625
|
|
|
NM_001378615.1(CC2D2A):c.1537T>A (p.Trp513Arg)
|
rs386833746
|
|
|
NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter)
|
rs2109029867
|
|
|
NM_001378615.1(CC2D2A):c.1545G>A (p.Glu515=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1547T>C (p.Met516Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.1551A>G (p.Lys517=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1554C>G (p.Ser518=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1557T>G (p.Leu519=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1561G>C (p.Glu521Gln)
|
rs756638247
|
|
|
NM_001378615.1(CC2D2A):c.1565T>C (p.Phe522Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.1580A>G (p.Asn527Ser)
|
rs2109029921
|
|
|
NM_001378615.1(CC2D2A):c.1596del (p.Val533fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.1607+12del
|
|
|
|
NM_001378615.1(CC2D2A):c.1607+19T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1607+24_1607+28del
|
rs2109029956
|
|
|
NM_001378615.1(CC2D2A):c.1607+6C>A
|
rs2109029936
|
|
|
NM_001378615.1(CC2D2A):c.1608-12del
|
|
|
|
NM_001378615.1(CC2D2A):c.1608-18C>A
|
rs1303472925
|
|
|
NM_001378615.1(CC2D2A):c.1608-2A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1611A>C (p.Glu537Asp)
|
rs762714528
|
|
|
NM_001378615.1(CC2D2A):c.1621C>A (p.Gln541Lys)
|
rs1160716658
|
|
|
NM_001378615.1(CC2D2A):c.1629A>C (p.Ala543=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1632T>G (p.Asp544Glu)
|
|
|
|
NM_001378615.1(CC2D2A):c.1633G>A (p.Glu545Lys)
|
rs749783221
|
|
|
NM_001378615.1(CC2D2A):c.1634AAG[1] (p.Glu546del)
|
rs750868948
|
|
|
NM_001378615.1(CC2D2A):c.1638A>G (p.Glu546=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1640C>T (p.Ala547Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.1644T>A (p.Tyr548Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.165C>A (p.Ser55=)
|
|
|
|
NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=)
|
rs794727713
|
|
|
NM_001378615.1(CC2D2A):c.1666A>G (p.Ile556Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.1666del (p.Glu555_Ile556insTer)
|
rs773740057
|
|
|
NM_001378615.1(CC2D2A):c.1670G>C (p.Ser557Thr)
|
rs1479599144
|
|
|
NM_001378615.1(CC2D2A):c.1676T>C (p.Leu559Pro)
|
rs754221308
|
|
|
NM_001378615.1(CC2D2A):c.1676T>G (p.Leu559Arg)
|
rs754221308
|
|
|
NM_001378615.1(CC2D2A):c.1677G>A (p.Leu559=)
|
rs1560170993
|
|
|
NM_001378615.1(CC2D2A):c.1680A>G (p.Leu560=)
|
rs1410261022
|
|
|
NM_001378615.1(CC2D2A):c.1681G>C (p.Glu561Gln)
|
rs2109034008
|
|
|
NM_001378615.1(CC2D2A):c.1684G>A (p.Glu562Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.1684G>T (p.Glu562Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.1691C>A (p.Thr564Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.1692G>A (p.Thr564=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1693GAG[1] (p.Glu566del)
|
rs1718166919
|
|
|
NM_001378615.1(CC2D2A):c.1695G>A (p.Glu565=)
|
|
|
|
NM_001378615.1(CC2D2A):c.16G>T (p.Glu6Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.1710G>A (p.Lys570=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1713G>A (p.Met571Ile)
|
rs886059137
|
|
|
NM_001378615.1(CC2D2A):c.1720T>A (p.Tyr574Asn)
|
rs768277071
|
|
|
NM_001378615.1(CC2D2A):c.1722C>T (p.Tyr574=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1727C>T (p.Thr576Met)
|
|
|
|
NM_001378615.1(CC2D2A):c.1731G>T (p.Ser577=)
|
|
|
|
NM_001378615.1(CC2D2A):c.173del (p.Gly58fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.1742G>C (p.Trp581Ser)
|
rs2109034111
|
|
|
NM_001378615.1(CC2D2A):c.174C>T (p.Gly58=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter)
|
rs980305935
|
|
|
NM_001378615.1(CC2D2A):c.1760T>A (p.Val587Glu)
|
|
|
|
NM_001378615.1(CC2D2A):c.1760T>C (p.Val587Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.1760del (p.Val587fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.1764+10C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1764+13A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.1764+17T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1764+18C>T
|
rs1718172963
|
|
|
NM_001378615.1(CC2D2A):c.1765-10A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1765-12C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1765-13_1765-9del
|
|
|
|
NM_001378615.1(CC2D2A):c.1765-17T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1765-1G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.1765-20T>C
|
rs1718218659
|
|
|
NM_001378615.1(CC2D2A):c.1765-24_1765-18del
|
|
|
|
NM_001378615.1(CC2D2A):c.1773GAA[2] (p.Lys594del)
|
rs886044115
|
|
|
NM_001378615.1(CC2D2A):c.1790_1809del (p.Gln597fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.1797A>G (p.Ala599=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1798GAA[1] (p.Glu601del)
|
rs1363895451
|
|
|
NM_001378615.1(CC2D2A):c.179C>T (p.Pro60Leu)
|
rs566035797
|
|
|
NM_001378615.1(CC2D2A):c.1801G>T (p.Glu601Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.1804C>T (p.His602Tyr)
|
rs753430251
|
|
|
NM_001378615.1(CC2D2A):c.1812T>A (p.Gly604=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1812T>C (p.Gly604=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val)
|
rs747187783
|
|
|
NM_001378615.1(CC2D2A):c.1824A>T (p.Ala608=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1827G>A (p.Glu609=)
|
rs886059138
|
|
|
NM_001378615.1(CC2D2A):c.1850T>C (p.Val617Ala)
|
rs1718226237
|
|
|
NM_001378615.1(CC2D2A):c.1863T>A (p.Pro621=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1864C>G (p.Pro622Ala)
|
rs1718227512
|
|
|
NM_001378615.1(CC2D2A):c.1866A>C (p.Pro622=)
|
rs1560171734
|
|
|
NM_001378615.1(CC2D2A):c.1872C>T (p.Pro624=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1879C>T (p.Arg627Trp)
|
|
|
|
NM_001378615.1(CC2D2A):c.1883dup (p.Val629fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.1891G>C (p.Glu631Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.1895A>G (p.Gln632Arg)
|
rs777510836
|
|
|
NM_001378615.1(CC2D2A):c.1902G>A (p.Val634=)
|
rs1293349023
|
|
|
NM_001378615.1(CC2D2A):c.1910G>C (p.Arg637Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.1929G>A (p.Arg643=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1946C>G (p.Thr649Arg)
|
rs201884883
|
|
|
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met)
|
rs201884883
|
|
|
NM_001378615.1(CC2D2A):c.1950G>A (p.Leu650=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1952T>C (p.Val651Ala)
|
rs762298895
|
|
|
NM_001378615.1(CC2D2A):c.1953C>G (p.Val651=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=)
|
rs550913315
|
|
|
NM_001378615.1(CC2D2A):c.1954C>T (p.Pro652Ser)
|
rs2109035370
|
|
|
NM_001378615.1(CC2D2A):c.1960C>G (p.Leu654Val)
|
rs2109035388
|
|
|
NM_001378615.1(CC2D2A):c.1977C>T (p.Ser659=)
|
rs2109035405
|
|
|
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.1986C>G (p.Pro662=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1998C>T (p.Cys666=)
|
|
|
|
NM_001378615.1(CC2D2A):c.199del (p.Glu67fs)
|
rs1433294475
|
|
|
NM_001378615.1(CC2D2A):c.2003+12C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2003+14C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2003+15C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2003+16G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2003+19C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2003+20G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2004-1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2004-6T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2006C>A (p.Ala669Glu)
|
rs953243101
|
|
|
NM_001378615.1(CC2D2A):c.2010G>A (p.Glu670=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)
|
rs763596840
|
|
|
NM_001378615.1(CC2D2A):c.201G>A (p.Glu67=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2025G>T (p.Glu675Asp)
|
|
|
|
NM_001378615.1(CC2D2A):c.2040C>A (p.Arg680=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2040C>G (p.Arg680=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2043dup (p.Val682fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.2049C>T (p.Tyr683=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2058G>A (p.Val686=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2072AGG[1] (p.Glu692del)
|
rs1718395356
|
|
|
NM_001378615.1(CC2D2A):c.2076G>A (p.Glu692=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2079G>A (p.Val693=)
|
rs1348040937
|
|
|
NM_001378615.1(CC2D2A):c.2085G>A (p.Arg695=)
|
|
|
|
NM_001378615.1(CC2D2A):c.209C>T (p.Thr70Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.2105G>T (p.Gly702Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.2105del (p.Gly702fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.2106A>G (p.Gly702=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2107G>A (p.Ala703Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.2115C>T (p.Phe705=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2116C>T (p.Arg706Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.2127T>C (p.Phe709=)
|
|
|
|
NM_001378615.1(CC2D2A):c.213C>A (p.Arg71=)
|
|
|
|
NM_001378615.1(CC2D2A):c.213C>G (p.Arg71=)
|
rs2108973641
|
|
|
NM_001378615.1(CC2D2A):c.2146C>T (p.Gln716Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.2151A>G (p.Ile717Met)
|
|
|
|
NM_001378615.1(CC2D2A):c.2154C>T (p.Val718=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2163G>T (p.Pro721=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2164G>T (p.Glu722Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.2170T>A (p.Leu724Ile)
|
rs1718404801
|
|
|
NM_001378615.1(CC2D2A):c.2174C>T (p.Thr725Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.2175A>G (p.Thr725=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2178T>G (p.Leu726=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2180A>G (p.Gln727Arg)
|
rs2109038955
|
|
|
NM_001378615.1(CC2D2A):c.2181+15T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2181+17T>G
|
rs1016233369
|
|
|
NM_001378615.1(CC2D2A):c.2181+19G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2181+19G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2181+1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2181+20T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2182-11C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2182-11_2182-10del
|
|
|
|
NM_001378615.1(CC2D2A):c.2182-3C>T
|
rs1560177957
|
|
|
NM_001378615.1(CC2D2A):c.2182-4T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2182-6T>G
|
rs1225693344
|
|
|
NM_001378615.1(CC2D2A):c.2182-8G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2182-9_2182-8delinsAA
|
rs1560177950
|
|
|
NM_001378615.1(CC2D2A):c.2187T>C (p.Tyr729=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2196C>T (p.Val732=)
|
rs764246302
|
|
|
NM_001378615.1(CC2D2A):c.2203A>T (p.Ser735Cys)
|
|
|
|
NM_001378615.1(CC2D2A):c.2208T>A (p.Ser736Arg)
|
rs2109050119
|
|
|
NM_001378615.1(CC2D2A):c.2209C>A (p.Pro737Thr)
|
rs1560177991
|
|
|
NM_001378615.1(CC2D2A):c.2222_2229dup (p.Phe744fs)
|
rs1471484901
|
|
|
NM_001378615.1(CC2D2A):c.2251A>C (p.Thr751Pro)
|
|
|
|
NM_001378615.1(CC2D2A):c.2253T>C (p.Thr751=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2259C>G (p.Val753=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2267G>C (p.Arg756Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.2268G>A (p.Arg756=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2275A>C (p.Thr759Pro)
|
rs1226753536
|
|
|
NM_001378615.1(CC2D2A):c.2277T>C (p.Thr759=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2283A>C (p.Glu761Asp)
|
|
|
|
NM_001378615.1(CC2D2A):c.2287G>C (p.Glu763Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.2322C>T (p.His774=)
|
|
|
|
NM_001378615.1(CC2D2A):c.232C>T (p.Arg78Trp)
|
|
|
|
NM_001378615.1(CC2D2A):c.2336G>A (p.Ser779Asn)
|
rs2109050322
|
|
|
NM_001378615.1(CC2D2A):c.2338+14A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2338+14del
|
rs1560178133
|
|
|
NM_001378615.1(CC2D2A):c.2338+2T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2338+3A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2338+4T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2339-10G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2339-10_2339-9del
|
rs886059157
|
|
|
NM_001378615.1(CC2D2A):c.2339-12G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2339-12G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2339-2A>C
|
rs1719092280
|
|
|
NM_001378615.1(CC2D2A):c.2339-4C>A
|
rs2109052944
|
|
|
NM_001378615.1(CC2D2A):c.2339-4_2339-3dup
|
|
|
|
NM_001378615.1(CC2D2A):c.2339-5C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2339-7del
|
|
|
|
NM_001378615.1(CC2D2A):c.2339-9T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2362G>C (p.Asp788His)
|
rs2109052993
|
|
|
NM_001378615.1(CC2D2A):c.2367C>A (p.Gly789=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2378T>G (p.Leu793Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.2380A>T (p.Thr794Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.2387T>C (p.Met796Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.2397G>A (p.Gly799=)
|
rs1577370765
|
|
|
NM_001378615.1(CC2D2A):c.2398A>G (p.Lys800Glu)
|
|
|
|
NM_001378615.1(CC2D2A):c.2403G>A (p.Val801=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2410A>T (p.Ser804Cys)
|
rs745751160
|
|
|
NM_001378615.1(CC2D2A):c.2411G>A (p.Ser804Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.2414T>C (p.Val805Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.2415G>A (p.Val805=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2417del (p.Ala806fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.241C>G (p.Pro81Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.2425A>G (p.Ile809Val)
|
rs1719097213
|
|
|
NM_001378615.1(CC2D2A):c.2440A>G (p.Ile814Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.2440dup (p.Ile814fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.2445T>C (p.Pro815=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2452C>A (p.Pro818Thr)
|
rs1719099728
|
|
|
NM_001378615.1(CC2D2A):c.2456C>A (p.Pro819Gln)
|
rs1719100127
|
|
|
NM_001378615.1(CC2D2A):c.2458T>C (p.Leu820=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2469G>A (p.Gln823=)
|
|
|
|
NM_001378615.1(CC2D2A):c.246G>C (p.Arg82=)
|
|
|
|
NM_001378615.1(CC2D2A):c.247+12T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.247+13C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.247+18A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.247+1G>A
|
rs765072583
|
|
|
NM_001378615.1(CC2D2A):c.247+9C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2472C>T (p.Asn824=)
|
|
|
|
NM_001378615.1(CC2D2A):c.248-16del
|
|
|
|
NM_001378615.1(CC2D2A):c.248-1G>A
|
rs2108998253
|
|
|
NM_001378615.1(CC2D2A):c.248-25TTTTGT[2]
|
|
|
|
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT
|
rs750398145
|
|
|
NM_001378615.1(CC2D2A):c.248-8T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2482C>A (p.Arg828=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2482C>T (p.Arg828Trp)
|
rs749997192
|
|
|
NM_001378615.1(CC2D2A):c.2484G>A (p.Arg828=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2486+13A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2486+17G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2486+1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2486+5T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2486+9T>C
|
rs768382177
|
|
|
NM_001378615.1(CC2D2A):c.2487-3C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2487-4T>G
|
rs900632187
|
|
|
NM_001378615.1(CC2D2A):c.2487-7_2487-3del
|
|
|
|
NM_001378615.1(CC2D2A):c.2487-8C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2493G>A (p.Leu831=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2514A>G (p.Ser838=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2523C>T (p.Gly841=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2529A>C (p.Ser843=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2537C>A (p.Thr846Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.2537C>T (p.Thr846Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.2542A>G (p.Met848Val)
|
rs376403848
|
|
|
NM_001378615.1(CC2D2A):c.2549A>T (p.Lys850Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.2551T>C (p.Leu851=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2554G>C (p.Ala852Pro)
|
rs2109055415
|
|
|
NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter)
|
rs1560180188
|
|
|
NM_001378615.1(CC2D2A):c.2567C>A (p.Ala856Glu)
|
rs1719213816
|
|
|
NM_001378615.1(CC2D2A):c.2568del (p.Glu857fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.2575A>G (p.Lys859Glu)
|
rs770990150
|
|
|
NM_001378615.1(CC2D2A):c.2581G>A (p.Asp861Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.25A>T (p.Lys9Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.2604C>A (p.Ala868=)
|
rs763477348
|
|
|
NM_001378615.1(CC2D2A):c.2604C>T (p.Ala868=)
|
rs763477348
|
|
|
NM_001378615.1(CC2D2A):c.2605C>T (p.Pro869Ser)
|
rs772863864
|
|
|
NM_001378615.1(CC2D2A):c.2610G>A (p.Leu870=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+12_2625+13insTCA
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+14G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+14_2625+19del
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+15_2625+24del
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+19A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+19A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+1G>A
|
rs1577372471
|
|
|
NM_001378615.1(CC2D2A):c.2625+2T>C
|
rs1449972974
|
|
|
NM_001378615.1(CC2D2A):c.2625+7A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+9C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+9C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2625G>C (p.Ser875=)
|
rs765873247
|
|
|
NM_001378615.1(CC2D2A):c.2626-18A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2626-4A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2626-6T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2634C>A (p.Thr878=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2637T>G (p.Ser879Arg)
|
rs2109058028
|
|
|
NM_001378615.1(CC2D2A):c.2640T>C (p.Gly880=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2649T>C (p.Tyr883=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2650del (p.Val884fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.2669T>G (p.Leu890Arg)
|
rs1719341621
|
|
|
NM_001378615.1(CC2D2A):c.2670G>A (p.Leu890=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2673G>A (p.Glu891=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)
|
rs764719093
|
|
|
NM_001378615.1(CC2D2A):c.2687A>C (p.Glu896Ala)
|
rs1553838206
|
|
|
NM_001378615.1(CC2D2A):c.2688G>A (p.Glu896=)
|
rs2109058103
|
|
|
NM_001378615.1(CC2D2A):c.2708A>G (p.Gln903Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.2718T>C (p.Asn906=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2724C>T (p.Ser908=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2728C>T (p.Arg910Ter)
|
rs781206278
|
|
|
NM_001378615.1(CC2D2A):c.2729G>A (p.Arg910Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.2734A>G (p.Arg912Gly)
|
rs574421639
|
|
|
NM_001378615.1(CC2D2A):c.2737C>T (p.Leu913Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.2751A>C (p.Arg917Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.2752A>G (p.Ser918Gly)
|
rs2109058193
|
|
|
NM_001378615.1(CC2D2A):c.2772C>T (p.Phe924=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro)
|
rs200707391
|
|
|
NM_001378615.1(CC2D2A):c.2774G>T (p.Arg925Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.2796C>T (p.Val932=)
|
|
|
|
NM_001378615.1(CC2D2A):c.279A>T (p.Thr93=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2820G>C (p.Lys940Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.2829+15T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2829+18del
|
|
|
|
NM_001378615.1(CC2D2A):c.2829+20G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2829G>T (p.Gln943His)
|
|
|
|
NM_001378615.1(CC2D2A):c.2830-14C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2830-16C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2830-18G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2830-1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2830-20T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2830-8A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2835T>C (p.Tyr945=)
|
rs1719439232
|
|
|
NM_001378615.1(CC2D2A):c.2837A>G (p.Glu946Gly)
|
rs2109060095
|
|
|
NM_001378615.1(CC2D2A):c.2849G>A (p.Arg950Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.2853C>T (p.Asp951=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2859T>C (p.Asn953=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2871C>G (p.Thr957=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2874G>A (p.Lys958=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2875G>T (p.Glu959Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.2875del (p.Glu959fs)
|
rs2109060174
|
|
|
NM_001378615.1(CC2D2A):c.2877A>G (p.Glu959=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2886C>T (p.Asp962=)
|
rs2109060199
|
|
|
NM_001378615.1(CC2D2A):c.2888C>T (p.Thr963Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.2892T>C (p.His964=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2895G>A (p.Arg965=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2898_2899dup (p.Ile967fs)
|
rs2109060214
|
|
|
NM_001378615.1(CC2D2A):c.2899A>G (p.Ile967Val)
|
rs895053103
|
|
|
NM_001378615.1(CC2D2A):c.28del (p.Lys9_Ile10insTer)
|
|
|
|
NM_001378615.1(CC2D2A):c.2912A>G (p.Tyr971Cys)
|
|
|
|
NM_001378615.1(CC2D2A):c.2916C>G (p.Leu972=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2922+10dup
|
rs752271495
|
|
|
NM_001378615.1(CC2D2A):c.2922+13A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2922+14T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2922+17A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2922+20A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2923-10C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2923-12T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2923-13T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2923-1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2923-3del
|
|
|
|
NM_001378615.1(CC2D2A):c.2923-5C>T
|
rs758867115
|
|
|
NM_001378615.1(CC2D2A):c.2923-6C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2925T>C (p.Val975=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2927G>C (p.Arg976Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.2928A>G (p.Arg976=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2934A>G (p.Ser978=)
|
|
|
|
NM_001378615.1(CC2D2A):c.293_299del (p.Glu97_Phe98insTer)
|
|
|
|
NM_001378615.1(CC2D2A):c.294T>C (p.Phe98=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2961A>G (p.Lys987=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2964A>G (p.Gln988=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2970T>C (p.Phe990=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2977G>A (p.Ala993Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.2982T>C (p.Asp994=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2984T>C (p.Met995Thr)
|
rs1719533280
|
|
|
NM_001378615.1(CC2D2A):c.2991A>G (p.Val997=)
|
rs2109061736
|
|
|
NM_001378615.1(CC2D2A):c.2993AAG[1] (p.Glu999_Glu1000del)
|
rs764874938
|
|
|
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del)
|
rs764874938
|
|
|
NM_001378615.1(CC2D2A):c.2999_3000inv (p.Glu1000Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.3014+10A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3014+10del
|
|
|
|
NM_001378615.1(CC2D2A):c.3014+11_3014+14del
|
rs1181395692
|
|
|
NM_001378615.1(CC2D2A):c.3014+16G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3014+18_3014+21del
|
|
|
|
NM_001378615.1(CC2D2A):c.3014+19A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3014+20T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3014+24_3014+26del
|
rs780647289
|
|
|
NM_001378615.1(CC2D2A):c.3014+8T>C
|
rs1410013441
|
|
|
NM_001378615.1(CC2D2A):c.3014G>A (p.Ser1005Asn)
|
rs1719535877
|
|
|
NM_001378615.1(CC2D2A):c.3015-14T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3015-19C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3015-1G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3015-5A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3015-8A>G
|
rs2109065118
|
|
|
NM_001378615.1(CC2D2A):c.3017T>A (p.Ile1006Asn)
|
rs754619415
|
|
|
NM_001378615.1(CC2D2A):c.3026T>C (p.Leu1009Pro)
|
|
|
|
NM_001378615.1(CC2D2A):c.3040_3041delinsGG (p.Leu1014Gly)
|
rs2109065185
|
|
|
NM_001378615.1(CC2D2A):c.3049C>T (p.Gln1017Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.304G>C (p.Gly102Arg)
|
rs1278804341
|
|
|
NM_001378615.1(CC2D2A):c.304G>T (p.Gly102Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3064C>A (p.Arg1022=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3064C>T (p.Arg1022Trp)
|
rs751865030
|
|
|
NM_001378615.1(CC2D2A):c.3066G>A (p.Arg1022=)
|
rs2109065234
|
|
|
NM_001378615.1(CC2D2A):c.306dup (p.Arg103fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3075A>G (p.Arg1025=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3079G>T (p.Gly1027Cys)
|
|
|
|
NM_001378615.1(CC2D2A):c.3083G>A (p.Arg1028Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs)
|
rs386833749
|
|
|
NM_001378615.1(CC2D2A):c.3104A>T (p.Asn1035Ile)
|
rs2109065297
|
|
|
NM_001378615.1(CC2D2A):c.311T>C (p.Met104Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.3122T>G (p.Ile1041Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs)
|
rs1560184664
|
|
|
NM_001378615.1(CC2D2A):c.312G>T (p.Met104Ile)
|
rs753884581
|
|
|
NM_001378615.1(CC2D2A):c.3133G>A (p.Val1045Met)
|
rs1473580177
|
|
|
NM_001378615.1(CC2D2A):c.3140T>C (p.Ile1047Thr)
|
rs778559564
|
|
|
NM_001378615.1(CC2D2A):c.3145C>A (p.Arg1049=)
|
rs386833750
|
|
|
NM_001378615.1(CC2D2A):c.3145C>G (p.Arg1049Gly)
|
rs386833750
|
|
|
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)
|
rs386833750
|
|
|
NM_001378615.1(CC2D2A):c.3147A>G (p.Arg1049=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3155A>G (p.Asp1052Gly)
|
|
|
|
NM_001378615.1(CC2D2A):c.3157A>C (p.Ile1053Leu)
|
rs148194457
|
|
|
NM_001378615.1(CC2D2A):c.3159T>G (p.Ile1053Met)
|
|
|
|
NM_001378615.1(CC2D2A):c.315G>A (p.Arg105=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3160C>T (p.Pro1054Ser)
|
rs1719718448
|
|
|
NM_001378615.1(CC2D2A):c.3164T>C (p.Val1055Ala)
|
rs2109065394
|
|
|
NM_001378615.1(CC2D2A):c.3177A>G (p.Ala1059=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3178G>T (p.Val1060Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.3180G>A (p.Val1060=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3182+10C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3182+13C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3182+1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3182+5G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3183-12T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3183-1G>T
|
rs1719930798
|
|
|
NM_001378615.1(CC2D2A):c.3183-20T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3183-5C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3183-5C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3207T>G (p.Ser1069=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs)
|
rs1719933188
|
|
|
NM_001378615.1(CC2D2A):c.3213G>A (p.Arg1071=)
|
rs2109070172
|
|
|
NM_001378615.1(CC2D2A):c.3229C>G (p.His1077Asp)
|
rs2109070180
|
|
|
NM_001378615.1(CC2D2A):c.322T>C (p.Leu108=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3230A>G (p.His1077Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.3233C>T (p.Ala1078Val)
|
rs1437673943
|
|
|
NM_001378615.1(CC2D2A):c.3236C>T (p.Ala1079Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.3267T>C (p.Asn1089=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3276C>A (p.Tyr1092Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3276C>T (p.Tyr1092=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3279C>T (p.Pro1093=)
|
rs1302080963
|
|
|
NM_001378615.1(CC2D2A):c.3282C>G (p.Leu1094=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3283G>A (p.Gly1095Ser)
|
rs181260724
|
|
|
NM_001378615.1(CC2D2A):c.3283G>T (p.Gly1095Cys)
|
|
|
|
NM_001378615.1(CC2D2A):c.3288+12T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3288+12T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3288+16C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3288+5G>A
|
rs1719939393
|
|
|
NM_001378615.1(CC2D2A):c.3288+9T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His)
|
rs863225169
|
|
|
NM_001378615.1(CC2D2A):c.3289-15G>C
|
rs2109070538
|
|
|
NM_001378615.1(CC2D2A):c.3289-2del
|
rs774235067
|
|
|
NM_001378615.1(CC2D2A):c.3291_3296del (p.Leu1098_Val1099del)
|
rs1307456757
|
|
|
NM_001378615.1(CC2D2A):c.3293T>G (p.Leu1098Ter)
|
rs1719950579
|
|
|
NM_001378615.1(CC2D2A):c.3295G>A (p.Val1099Ile)
|
rs1349492467
|
|
|
NM_001378615.1(CC2D2A):c.3295G>T (p.Val1099Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.3298C>A (p.Arg1100Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.3301C>A (p.Pro1101Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.3303C>G (p.Pro1101=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3310G>A (p.Glu1104Lys)
|
rs2109070604
|
|
|
NM_001378615.1(CC2D2A):c.3311A>G (p.Glu1104Gly)
|
rs2109070607
|
|
|
NM_001378615.1(CC2D2A):c.3313G>A (p.Val1105Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.3317_3318del (p.Ser1106fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3320_3321del (p.Phe1107fs)
|
rs2109070615
|
|
|
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=)
|
rs753770061
|
|
|
NM_001378615.1(CC2D2A):c.3334T>G (p.Cys1112Gly)
|
rs754824046
|
|
|
NM_001378615.1(CC2D2A):c.3336C>A (p.Cys1112Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3336C>T (p.Cys1112=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3342G>A (p.Thr1114=)
|
|
|
|
NM_001378615.1(CC2D2A):c.334A>C (p.Arg112=)
|
rs2108998391
|
|
|
NM_001378615.1(CC2D2A):c.336+14C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.336+15A>G
|
rs2108998411
|
|
|
NM_001378615.1(CC2D2A):c.336+17G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.336+19A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.336+20T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.336+3GA[2]
|
|
|
|
NM_001378615.1(CC2D2A):c.3360A>G (p.Pro1120=)
|
rs2109070685
|
|
|
NM_001378615.1(CC2D2A):c.3363C>A (p.Asn1121Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
|
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg)
|
rs886059182
|
|
|
NM_001378615.1(CC2D2A):c.3368G>C (p.Ser1123Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.3369C>T (p.Ser1123=)
|
|
|
|
NM_001378615.1(CC2D2A):c.337-12T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.337-14G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.337-18T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.337-2A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.337-7T>C
|
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|
|
NM_001378615.1(CC2D2A):c.3398+13T>C
|
rs886059183
|
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|
NM_001378615.1(CC2D2A):c.3398+18T>C
|
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|
|
NM_001378615.1(CC2D2A):c.3398+19T>C
|
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|
NM_001378615.1(CC2D2A):c.3398+7A>T
|
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|
NM_001378615.1(CC2D2A):c.3398+7del
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|
NM_001378615.1(CC2D2A):c.3398+9A>G
|
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|
NM_001378615.1(CC2D2A):c.3399-12G>A
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|
NM_001378615.1(CC2D2A):c.3399-12G>C
|
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|
NM_001378615.1(CC2D2A):c.3399-14G>A
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|
NM_001378615.1(CC2D2A):c.3399-1G>C
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|
|
NM_001378615.1(CC2D2A):c.3399-3C>A
|
rs386833753
|
|
|
NM_001378615.1(CC2D2A):c.3400G>A (p.Ala1134Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.3405T>C (p.Pro1135=)
|
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|
|
NM_001378615.1(CC2D2A):c.3418_3425del (p.Ser1140fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3425C>G (p.Ala1142Gly)
|
rs1252635827
|
|
|
NM_001378615.1(CC2D2A):c.3426C>T (p.Ala1142=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3435G>C (p.Gln1145His)
|
rs1479626818
|
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|
NM_001378615.1(CC2D2A):c.3445G>A (p.Asp1149Asn)
|
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|
|
NM_001378615.1(CC2D2A):c.3447T>A (p.Asp1149Glu)
|
rs772795748
|
|
|
NM_001378615.1(CC2D2A):c.3447T>C (p.Asp1149=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3447TGT[1] (p.Val1151del)
|
|
|
|
NM_001378615.1(CC2D2A):c.3453G>A (p.Val1151=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3456C>T (p.Phe1152=)
|
rs2109072690
|
|
|
NM_001378615.1(CC2D2A):c.3465T>A (p.Ile1155=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3468dup (p.Asp1157Ter)
|
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|
NM_001378615.1(CC2D2A):c.3469_3476del (p.Asp1157fs)
|
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|
NM_001378615.1(CC2D2A):c.3471T>C (p.Asp1157=)
|
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|
NM_001378615.1(CC2D2A):c.3478C>T (p.Leu1160=)
|
rs776074900
|
|
|
NM_001378615.1(CC2D2A):c.3480G>A (p.Leu1160=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3483T>G (p.His1161Gln)
|
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|
|
NM_001378615.1(CC2D2A):c.3485A>C (p.Asp1162Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.3486T>C (p.Asp1162=)
|
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|
|
NM_001378615.1(CC2D2A):c.348A>G (p.Glu116=)
|
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|
|
NM_001378615.1(CC2D2A):c.3490T>C (p.Leu1164=)
|
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|
NM_001378615.1(CC2D2A):c.3495+11A>C
|
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|
NM_001378615.1(CC2D2A):c.3495+11A>G
|
rs2109072768
|
|
|
NM_001378615.1(CC2D2A):c.3495+12G>C
|
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|
NM_001378615.1(CC2D2A):c.3495+15T>C
|
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|
NM_001378615.1(CC2D2A):c.3495+20A>G
|
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|
NM_001378615.1(CC2D2A):c.3496-11C>A
|
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|
NM_001378615.1(CC2D2A):c.3496-11C>G
|
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|
NM_001378615.1(CC2D2A):c.3496-14C>T
|
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|
|
NM_001378615.1(CC2D2A):c.3496-15C>T
|
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|
NM_001378615.1(CC2D2A):c.3496-18T>C
|
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|
NM_001378615.1(CC2D2A):c.3496-19C>T
|
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|
NM_001378615.1(CC2D2A):c.3496-20A>G
|
rs1720099977
|
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|
NM_001378615.1(CC2D2A):c.3496-7C>T
|
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|
NM_001378615.1(CC2D2A):c.3496-8del
|
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|
NM_001378615.1(CC2D2A):c.3499G>A (p.Asp1167Asn)
|
rs371998498
|
|
|
NM_001378615.1(CC2D2A):c.3505G>T (p.Glu1169Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3519A>T (p.Gly1173=)
|
rs2109073915
|
|
|
NM_001378615.1(CC2D2A):c.3522_3523insTG (p.His1175fs)
|
rs386833754
|
|
|
NM_001378615.1(CC2D2A):c.3527C>A (p.Thr1176Asn)
|
rs754966579
|
|
|
NM_001378615.1(CC2D2A):c.3527C>T (p.Thr1176Ile)
|
rs754966579
|
|
|
NM_001378615.1(CC2D2A):c.352G>A (p.Ala118Thr)
|
rs1214212437
|
|
|
NM_001378615.1(CC2D2A):c.3530G>A (p.Arg1177His)
|
rs1409338849
|
|
|
NM_001378615.1(CC2D2A):c.3535G>T (p.Glu1179Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3538A>T (p.Arg1180Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.353C>G (p.Ala118Gly)
|
|
|
|
NM_001378615.1(CC2D2A):c.3548T>A (p.Leu1183Gln)
|
rs2109073973
|
|
|
NM_001378615.1(CC2D2A):c.354A>G (p.Ala118=)
|
|
|
|
NM_001378615.1(CC2D2A):c.354A>T (p.Ala118=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3554G>A (p.Cys1185Tyr)
|
rs1720105141
|
|
|
NM_001378615.1(CC2D2A):c.3562A>G (p.Met1188Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.3565C>T (p.Pro1189Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.3567A>G (p.Pro1189=)
|
rs1553841140
|
|
|
NM_001378615.1(CC2D2A):c.356T>A (p.Leu119Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3576A>G (p.Thr1192=)
|
rs953629205
|
|
|
NM_001378615.1(CC2D2A):c.357G>A (p.Leu119=)
|
|
|
|
NM_001378615.1(CC2D2A):c.357G>C (p.Leu119Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.3584del (p.Phe1195fs)
|
rs386833756
|
|
|
NM_001378615.1(CC2D2A):c.3585C>T (p.Phe1195=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3588del (p.Ala1197fs)
|
rs982352950
|
|
|
NM_001378615.1(CC2D2A):c.3594+11A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3594+14G>A
|
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|
|
NM_001378615.1(CC2D2A):c.3594+9C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3595-12T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3595-13A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3595-15A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3595-15A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3595-1G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3595-4A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3595-5C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.35_36del (p.Thr12fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3605C>T (p.Thr1202Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.3613dup (p.Ile1205fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3616G>T (p.Asp1206Tyr)
|
|
|
|
NM_001378615.1(CC2D2A):c.3620T>C (p.Ile1207Thr)
|
rs2109077863
|
|
|
NM_001378615.1(CC2D2A):c.3626del (p.Pro1209fs)
|
rs2109077865
|
|
|
NM_001378615.1(CC2D2A):c.3638del (p.Gly1213fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.363G>A (p.Gln121=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3640_3643dup (p.Ser1215fs)
|
rs2109077880
|
|
|
NM_001378615.1(CC2D2A):c.3643A>C (p.Ser1215Arg)
|
rs765661601
|
|
|
NM_001378615.1(CC2D2A):c.3648G>A (p.Lys1216=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3649G>A (p.Glu1217Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.3652C>T (p.Arg1218Ter)
|
rs375278294
|
|
|
NM_001378615.1(CC2D2A):c.3653G>A (p.Arg1218Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.3672G>A (p.Arg1224=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3684T>C (p.Ser1228=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3685G>T (p.Val1229Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.3689G>A (p.Arg1230Gln)
|
rs778082588
|
|
|
NM_001378615.1(CC2D2A):c.369C>A (p.Ile123=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3707_3709dup (p.Ser1236dup)
|
rs1720298896
|
|
|
NM_001378615.1(CC2D2A):c.3711C>T (p.Tyr1237=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3717C>G (p.Thr1239=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3725T>C (p.Ile1242Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.3732T>C (p.Ile1244=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3734_3744del (p.Glu1245fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3739C>T (p.Gln1247Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3744G>A (p.Leu1248=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3744_3747dup (p.Pro1250fs)
|
rs863225171
|
|
|
NM_001378615.1(CC2D2A):c.3762del (p.Arg1255fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3764G>A (p.Arg1255Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.3770del (p.Lys1257fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3771+12T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3771+13A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3771+16T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3771+7A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3771+8C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3772-10C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3772-11dup
|
|
|
|
NM_001378615.1(CC2D2A):c.3772-14C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3772-16G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3772-7T>C
|
rs2109083258
|
|
|
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter)
|
rs386833757
|
|
|
NM_001378615.1(CC2D2A):c.3777G>A (p.Glu1259=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3779C>T (p.Ser1260Phe)
|
rs759726075
|
|
|
NM_001378615.1(CC2D2A):c.3780T>A (p.Ser1260=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3783G>A (p.Gln1261=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3789T>C (p.Asp1263=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3790G>A (p.Glu1264Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.3799C>G (p.Leu1267Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.3803_3804del (p.Gln1268fs)
|
rs2109083312
|
|
|
NM_001378615.1(CC2D2A):c.3805G>A (p.Ala1269Thr)
|
rs753246574
|
|
|
NM_001378615.1(CC2D2A):c.3810T>A (p.Thr1270=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3810_3811del (p.Lys1272fs)
|
rs1312758061
|
|
|
NM_001378615.1(CC2D2A):c.3814A>G (p.Lys1272Glu)
|
|
|
|
NM_001378615.1(CC2D2A):c.3820C>T (p.Gln1274Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3834C>G (p.Ala1278=)
|
rs751897663
|
|
|
NM_001378615.1(CC2D2A):c.3834C>T (p.Ala1278=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3837A>G (p.Leu1279=)
|
rs1560192604
|
|
|
NM_001378615.1(CC2D2A):c.384del (p.Arg129fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3856T>C (p.Cys1286Arg)
|
rs1347377004
|
|
|
NM_001378615.1(CC2D2A):c.3861T>G (p.Leu1287=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3870A>G (p.Val1290=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3873T>C (p.Ile1291=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3873T>G (p.Ile1291Met)
|
|
|
|
NM_001378615.1(CC2D2A):c.3878T>C (p.Ile1293Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.3882C>T (p.Ser1294=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3885A>G (p.Gly1295=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3889_3890delinsCG (p.Thr1297Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.3891T>G (p.Thr1297=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3892_3893del (p.Val1298fs)
|
rs763735590
|
|
|
NM_001378615.1(CC2D2A):c.3893T>A (p.Val1298Asp)
|
rs386833758
|
|
|
NM_001378615.1(CC2D2A):c.3896_3920del (p.Val1298_Phe1299insTer)
|
|
|
|
NM_001378615.1(CC2D2A):c.3897del (p.Phe1299fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.389G>T (p.Arg130Leu)
|
rs778519147
|
|
|
NM_001378615.1(CC2D2A):c.39+10C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.39+16G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.39+20T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.39+6T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3900C>T (p.Ile1300=)
|
rs2109083429
|
|
|
NM_001378615.1(CC2D2A):c.3902C>T (p.Thr1301Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.3904C>T (p.Arg1302Cys)
|
rs1398696429
|
|
|
NM_001378615.1(CC2D2A):c.3905G>A (p.Arg1302His)
|
rs988477564
|
|
|
NM_001378615.1(CC2D2A):c.390C>T (p.Arg130=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3919T>C (p.Leu1307=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3924C>A (p.Asn1308Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.3924C>T (p.Asn1308=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3927T>G (p.Pro1309=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3929C>T (p.Pro1310Leu)
|
rs1720595936
|
|
|
NM_001378615.1(CC2D2A):c.3936G>A (p.Glu1312=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3943A>T (p.Asn1315Tyr)
|
|
|
|
NM_001378615.1(CC2D2A):c.394C>A (p.Arg132=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3953C>G (p.Pro1318Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.3957T>C (p.Asn1319=)
|
rs2109083467
|
|
|
NM_001378615.1(CC2D2A):c.395G>A (p.Arg132Gln)
|
rs772016081
|
|
|
NM_001378615.1(CC2D2A):c.3975+11C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3975+12A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3975+17C>G
|
rs2109083516
|
|
|
NM_001378615.1(CC2D2A):c.3975+19del
|
|
|
|
NM_001378615.1(CC2D2A):c.3975+19dup
|
|
|
|
NM_001378615.1(CC2D2A):c.3975+1G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3975+2T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3975+4_3975+7del
|
rs386833759
|
|
|
NM_001378615.1(CC2D2A):c.3975+8T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3976-14T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3976-19G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3976-3C>A
|
rs576298659
|
|
|
NM_001378615.1(CC2D2A):c.3976-3C>T
|
rs576298659
|
|
|
NM_001378615.1(CC2D2A):c.3976-5T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3978A>C (p.Glu1326Asp)
|
|
|
|
NM_001378615.1(CC2D2A):c.3984G>A (p.Val1328=)
|
|
|
|
NM_001378615.1(CC2D2A):c.398G>A (p.Ser133Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys)
|
rs1720848250
|
|
|
NM_001378615.1(CC2D2A):c.3993T>C (p.Tyr1331=)
|
|
|
|
NM_001378615.1(CC2D2A):c.40-122A>C
|
rs9993580
|
|
|
NM_001378615.1(CC2D2A):c.40-13C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.40-18T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4001T>C (p.Leu1334Ser)
|
rs1577396363
|
|
|
NM_001378615.1(CC2D2A):c.4014G>A (p.Leu1338=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4015C>T (p.Pro1339Ser)
|
rs781057021
|
|
|
NM_001378615.1(CC2D2A):c.4023T>C (p.Thr1341=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4037G>C (p.Gly1346Ala)
|
rs1720849726
|
|
|
NM_001378615.1(CC2D2A):c.4037G>T (p.Gly1346Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.4050C>G (p.Leu1350=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4059A>G (p.Thr1353=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4065+10_4065+11delinsAG
|
rs2109088612
|
|
|
NM_001378615.1(CC2D2A):c.4065+11C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.4065+12T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4065+18A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4065+1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.4065+2T>C
|
rs1179041639
|
|
|
NM_001378615.1(CC2D2A):c.4065+6T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4065+8G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.4065+9TTC[2]
|
rs755600533
|
|
|
NM_001378615.1(CC2D2A):c.4066-10T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4066-11C>A
|
rs1412529846
|
|
|
NM_001378615.1(CC2D2A):c.4066-11_4066-10del
|
|
|
|
NM_001378615.1(CC2D2A):c.4066-11_4066-8del
|
|
|
|
NM_001378615.1(CC2D2A):c.4066-12del
|
rs752759735
|
|
|
NM_001378615.1(CC2D2A):c.4066-16T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4066-1G>A
|
rs867390302
|
|
|
NM_001378615.1(CC2D2A):c.4066-20T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.4066-20T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4066-20T>G
|
rs1174030292
|
|
|
NM_001378615.1(CC2D2A):c.4067A>G (p.Gln1356Arg)
|
rs771460583
|
|
|
NM_001378615.1(CC2D2A):c.4068A>C (p.Gln1356His)
|
|
|
|
NM_001378615.1(CC2D2A):c.4084dup (p.Ala1362fs)
|
rs1313708855
|
|
|
NM_001378615.1(CC2D2A):c.4086del (p.Asp1364fs)
|
rs2109090291
|
|
|
NM_001378615.1(CC2D2A):c.4088G>T (p.Gly1363Val)
|
rs762683334
|
|
|
NM_001378615.1(CC2D2A):c.408G>A (p.Lys136=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4090G>A (p.Asp1364Asn)
|
rs768130176
|
|
|
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp)
|
rs557038070
|
|
|
NM_001378615.1(CC2D2A):c.4098del (p.Glu1367fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.40G>A (p.Glu14Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.4104T>C (p.His1368=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4111C>T (p.Leu1371=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4114T>C (p.Leu1372=)
|
|
|
|
NM_001378615.1(CC2D2A):c.411_414del (p.Lys137fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4125C>T (p.Tyr1375=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4126T>C (p.Phe1376Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.4127_4130del (p.Phe1376fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4128T>C (p.Phe1376=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4130T>C (p.Leu1377Pro)
|
rs2109090351
|
|
|
NM_001378615.1(CC2D2A):c.4139G>A (p.Gly1380Asp)
|
rs1271963891
|
|
|
NM_001378615.1(CC2D2A):c.4144_4145delinsGC (p.Lys1382Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.4149C>G (p.Ala1383=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4160T>C (p.Met1387Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.4171A>T (p.Ile1391Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.4175del (p.Pro1392fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4179+12T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4179+17T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4179+19C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4179+1G>A
|
rs886044295
|
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
|
NM_001378615.1(CC2D2A):c.4179+8C>A
|
rs2109090417
|
|
|
NM_001378615.1(CC2D2A):c.4179+8C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.4180-20T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4186A>G (p.Thr1396Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.4189G>C (p.Ala1397Pro)
|
|
|
|
NM_001378615.1(CC2D2A):c.418_419insGAGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATCTCCATCTGAGGTACCGGGTTCATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGAATTGG (p.Glu140delinsGlyGlyArgSerGlnAspGlyArgIleGlyThrAlaProValTyrSerSerGlnArgGluArgArgArgArgArgTer)
|
|
|
|
NM_001378615.1(CC2D2A):c.4191C>G (p.Ala1397=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4193_4194dup (p.Val1399fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4203T>G (p.Thr1401=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4206G>C (p.Trp1402Cys)
|
rs1720998794
|
|
|
NM_001378615.1(CC2D2A):c.4209G>A (p.Glu1403=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4216C>T (p.Arg1406Cys)
|
|
|
|
NM_001378615.1(CC2D2A):c.4221T>C (p.Tyr1407=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4222T>C (p.Leu1408=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4228T>C (p.Trp1410Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.4229G>A (p.Trp1410Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4233T>A (p.Asn1411Lys)
|
rs1721000269
|
|
|
NM_001378615.1(CC2D2A):c.4234C>T (p.Pro1412Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.4240A>G (p.Ser1414Gly)
|
|
|
|
NM_001378615.1(CC2D2A):c.4241G>A (p.Ser1414Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.4244G>T (p.Gly1415Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.4246C>A (p.His1416Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.4248T>C (p.His1416=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4254T>A (p.Tyr1418Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4254T>C (p.Tyr1418=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs)
|
rs772110399
|
|
|
NM_001378615.1(CC2D2A):c.4273T>C (p.Cys1425Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.4287T>C (p.Asn1429=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala)
|
rs863225168
|
|
|
NM_001378615.1(CC2D2A):c.4290G>A (p.Val1430=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4295_4298del (p.Gly1431_Cys1432insTer)
|
rs1560196436
|
|
|
NM_001378615.1(CC2D2A):c.429T>C (p.Phe143=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4303_4314+1del
|
|
|
|
NM_001378615.1(CC2D2A):c.4305T>A (p.Gly1435=)
|
rs1721005215
|
|
|
NM_001378615.1(CC2D2A):c.4314+13A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4314+7A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4315-15T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4315-16G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.4315-19G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.4315-6_4315-3del
|
rs926806639
|
|
|
NM_001378615.1(CC2D2A):c.4315-7T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4320G>A (p.Trp1440Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.432C>G (p.Gly144=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4335A>G (p.Arg1445=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4351A>C (p.Arg1451=)
|
|
|
|
NM_001378615.1(CC2D2A):c.436G>T (p.Glu146Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4374G>C (p.Arg1458Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.438+12C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.438+15_438+18del
|
rs1716044858
|
|
|
NM_001378615.1(CC2D2A):c.438+1G>T
|
rs1453265480
|
|
|
NM_001378615.1(CC2D2A):c.438+20C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.438G>A (p.Glu146=)
|
rs1215345163
|
|
|
NM_001378615.1(CC2D2A):c.439-13T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.439-13del
|
|
|
|
NM_001378615.1(CC2D2A):c.439-16T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.439-20del
|
|
|
|
NM_001378615.1(CC2D2A):c.439-5T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.439-5_492dup
|
|
|
|
NM_001378615.1(CC2D2A):c.439-6A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.439-8T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.439-8T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.439-9C>T
|
rs747673081
|
|
|
NM_001378615.1(CC2D2A):c.4393T>G (p.Phe1465Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.4407C>T (p.Ser1469=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4419T>C (p.Pro1473=)
|
|
|
|
NM_001378615.1(CC2D2A):c.441A>G (p.Pro147=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4425T>C (p.Leu1475=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4428C>T (p.Ser1476=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4434T>A (p.Val1478=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4437+12T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4437+13T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4437+4T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4437+6A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4437+7del
|
|
|
|
NM_001378615.1(CC2D2A):c.4437+8T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.4437G>A (p.Gln1479=)
|
rs878854168
|
|
|
NM_001378615.1(CC2D2A):c.4437G>C (p.Gln1479His)
|
rs878854168
|
|
|
NM_001378615.1(CC2D2A):c.4438-18C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.4438-20A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.4438-5T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4440del (p.Glu1481fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4442A>C (p.Glu1481Ala)
|
rs886059185
|
|
|
NM_001378615.1(CC2D2A):c.4455C>A (p.Tyr1485Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4460G>T (p.Arg1487Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.4464A>T (p.Ser1488=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4465G>C (p.Asp1489His)
|
|
|
|
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)
|
rs797045437
|
|
|
NM_001378615.1(CC2D2A):c.4471dup (p.Ala1491fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4491A>G (p.Gln1497=)
|
rs863225179
|
|
|
NM_001378615.1(CC2D2A):c.4492G>C (p.Asp1498His)
|
|
|
|
NM_001378615.1(CC2D2A):c.4494C>T (p.Asp1498=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4496+15A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4496+16T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4496+20T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4496+2T>A
|
rs386833762
|
|
|
NM_001378615.1(CC2D2A):c.4496+5C>T
|
rs1721369264
|
|
|
NM_001378615.1(CC2D2A):c.4496+6A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4496+7T>C
|
rs1721369727
|
|
|
NM_001378615.1(CC2D2A):c.4497-15A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4497-15_4497-14del
|
rs2148495845
|
|
|
NM_001378615.1(CC2D2A):c.4497-19del
|
|
|
|
NM_001378615.1(CC2D2A):c.4497-6G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.4497-9T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4506A>C (p.Lys1502Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.4507dup (p.Ile1503fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4513A>T (p.Lys1505Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.451G>T (p.Val151Leu)
|
rs1485264498
|
|
|
NM_001378615.1(CC2D2A):c.4522A>C (p.Ile1508Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.4522del (p.Ile1508fs)
|
rs775292940
|
|
|
NM_001378615.1(CC2D2A):c.4522dup (p.Ile1508fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)
|
rs1721483506
|
|
|
NM_001378615.1(CC2D2A):c.4536G>A (p.Arg1512=)
|
|
|
|
NM_001378615.1(CC2D2A):c.453A>G (p.Val151=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4542C>A (p.Arg1514=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4544A>G (p.His1515Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.4545T>C (p.His1515=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4550C>T (p.Thr1517Ile)
|
rs780673487
|
|
|
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp)
|
rs767260373
|
|
|
NM_001378615.1(CC2D2A):c.4554G>C (p.Arg1518=)
|
rs755691801
|
|
|
NM_001378615.1(CC2D2A):c.4555T>C (p.Trp1519Arg)
|
rs1577406415
|
|
|
NM_001378615.1(CC2D2A):c.4555T>G (p.Trp1519Gly)
|
rs1577406415
|
|
|
NM_001378615.1(CC2D2A):c.4560T>C (p.Asn1520=)
|
rs1721486758
|
|
|
NM_001378615.1(CC2D2A):c.4569T>A (p.Cys1523Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4569T>C (p.Cys1523=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4582C>A (p.Arg1528Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.4594_4624del (p.Leu1531_Pro1532insTer)
|
|
|
|
NM_001378615.1(CC2D2A):c.4601T>C (p.Leu1534Ser)
|
rs2148495981
|
|
|
NM_001378615.1(CC2D2A):c.4602A>G (p.Leu1534=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4624G>A (p.Val1542Ile)
|
rs1721490248
|
|
|
NM_001378615.1(CC2D2A):c.4625T>C (p.Val1542Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.4632T>C (p.Asp1544=)
|
|
|
|
NM_001378615.1(CC2D2A):c.463C>T (p.Gln155Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4654A>C (p.Lys1552Gln)
|
rs2148496033
|
|
|
NM_001378615.1(CC2D2A):c.4654A>T (p.Lys1552Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4655_4656dup (p.Gln1553fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.465A>G (p.Gln155=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4666G>C (p.Asp1556His)
|
rs1721493626
|
|
|
NM_001378615.1(CC2D2A):c.4671C>A (p.Tyr1557Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4672A>C (p.Arg1558=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4674+12A>G
|
rs2148496063
|
|
|
NM_001378615.1(CC2D2A):c.4674+19C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4674+6T>C
|
rs1340397034
|
|
|
NM_001378615.1(CC2D2A):c.4675-10T>A
|
rs2148497339
|
|
|
NM_001378615.1(CC2D2A):c.4675-11T>C
|
rs1242070238
|
|
|
NM_001378615.1(CC2D2A):c.4675-13T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4675-19A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4675-9dup
|
|
|
|
NM_001378615.1(CC2D2A):c.4679C>T (p.Ser1560Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.467_468insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGGACTCAACA (p.Gln156_Glu157insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
|
NM_001378615.1(CC2D2A):c.4682dup (p.Phe1562fs)
|
rs1553845917
|
|
|
NM_001378615.1(CC2D2A):c.4688C>T (p.Pro1563Leu)
|
rs886059186
|
|
|
NM_001378615.1(CC2D2A):c.4690C>T (p.Leu1564Phe)
|
rs1441082551
|
|
|
NM_001378615.1(CC2D2A):c.4699C>T (p.Pro1567Ser)
|
rs2148497378
|
|
|
NM_001378615.1(CC2D2A):c.469G>T (p.Glu157Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4704T>C (p.Tyr1568=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4705T>G (p.Ser1569Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.4708G>T (p.Glu1570Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4718C>T (p.Pro1573Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.4725T>C (p.Ile1575=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4728C>T (p.Asp1576=)
|
rs774919996
|
|
|
NM_001378615.1(CC2D2A):c.4731T>C (p.Ala1577=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4733T>C (p.Val1578Ala)
|
rs2148497423
|
|
|
NM_001378615.1(CC2D2A):c.4736A>G (p.Tyr1579Cys)
|
|
|
|
NM_001378615.1(CC2D2A):c.4740T>C (p.Ser1580=)
|
rs759221177
|
|
|
NM_001378615.1(CC2D2A):c.4746A>C (p.Gly1582=)
|
rs2148497436
|
|
|
NM_001378615.1(CC2D2A):c.4746_4747dup (p.Val1583fs)
|
rs1721586115
|
|
|
NM_001378615.1(CC2D2A):c.4752T>C (p.His1584=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4757T>A (p.Ile1586Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.4767T>C (p.Pro1589=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4773T>C (p.Val1591=)
|
|
|
|
NM_001378615.1(CC2D2A):c.477C>T (p.Asp159=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4808C>G (p.Pro1603Arg)
|
rs2148497490
|
|
|
NM_001378615.1(CC2D2A):c.4811A>G (p.Lys1604Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.4819T>C (p.Leu1607=)
|
rs1197953378
|
|
|
NM_001378615.1(CC2D2A):c.4819_4820del (p.Leu1607fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4835A>G (p.Tyr1612Cys)
|
rs368070611
|
|
|
NM_001378615.1(CC2D2A):c.4836T>C (p.Tyr1612=)
|
|
|
|
NM_001378615.1(CC2D2A):c.483A>C (p.Gln161His)
|
|
|
|
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs)
|
rs863225175
|
|
|
NM_001378615.1(CC2D2A):c.4847T>A (p.Leu1616His)
|
|
|
|
NM_001378615.1(CC2D2A):c.4848T>C (p.Leu1616=)
|
rs1396115620
|
|
|
NM_001378615.1(CC2D2A):c.4848T>G (p.Leu1616=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4852C>A (p.Arg1618Ser)
|
rs201219078
|
|
|
NM_001378615.1(CC2D2A):c.4852C>G (p.Arg1618Gly)
|
|
|
|
NM_001378615.1(CC2D2A):c.4854C>A (p.Arg1618=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4863A>G (p.Ter1621=)
|
|
|
|
NM_001378615.1(CC2D2A):c.48T>C (p.Ile16=)
|
|
|
|
NM_001378615.1(CC2D2A):c.494G>A (p.Arg165Lys)
|
rs911542623
|
|
|
NM_001378615.1(CC2D2A):c.495A>G (p.Arg165=)
|
|
|
|
NM_001378615.1(CC2D2A):c.501G>A (p.Lys167=)
|
|
|
|
NM_001378615.1(CC2D2A):c.503T>C (p.Phe168Ser)
|
rs1226794909
|
|
|
NM_001378615.1(CC2D2A):c.505C>T (p.His169Tyr)
|
rs1716491115
|
|
|
NM_001378615.1(CC2D2A):c.507T>C (p.His169=)
|
|
|
|
NM_001378615.1(CC2D2A):c.523del (p.Ile175fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.534del (p.Lys178fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.540+10C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.540+13G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.540+17T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.540+18T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.540+1G>A
|
rs1296652053
|
|
|
NM_001378615.1(CC2D2A):c.540+20A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.540+4A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.540+5G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.541-11C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.541-12G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.541-16C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.541-18C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.541-1G>A
|
rs1716552711
|
|
|
NM_001378615.1(CC2D2A):c.541-3T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.541-5G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.541-9T>A
|
rs1434091819
|
|
|
NM_001378615.1(CC2D2A):c.543T>A (p.Val181=)
|
|
|
|
NM_001378615.1(CC2D2A):c.54T>C (p.Asn18=)
|
|
|
|
NM_001378615.1(CC2D2A):c.551G>C (p.Gly184Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.552C>A (p.Gly184=)
|
|
|
|
NM_001378615.1(CC2D2A):c.555C>T (p.Phe185=)
|
|
|
|
NM_001378615.1(CC2D2A):c.556C>G (p.Pro186Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.558T>C (p.Pro186=)
|
|
|
|
NM_001378615.1(CC2D2A):c.574T>A (p.Tyr192Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.58G>A (p.Glu20Lys)
|
rs1714407144
|
|
|
NM_001378615.1(CC2D2A):c.596T>C (p.Phe199Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.5A>G (p.Asn2Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.602C>G (p.Pro201Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.609A>G (p.Pro203=)
|
|
|
|
NM_001378615.1(CC2D2A):c.612A>G (p.Glu204=)
|
|
|
|
NM_001378615.1(CC2D2A):c.615A>T (p.Gly205=)
|
|
|
|
NM_001378615.1(CC2D2A):c.618A>C (p.Ser206=)
|
|
|
|
NM_001378615.1(CC2D2A):c.630A>G (p.Pro210=)
|
|
|
|
NM_001378615.1(CC2D2A):c.635C>A (p.Ala212Glu)
|
|
|
|
NM_001378615.1(CC2D2A):c.639A>G (p.Arg213=)
|
rs750290771
|
|
|
NM_001378615.1(CC2D2A):c.63T>C (p.Asp21=)
|
rs1714407530
|
|
|
NM_001378615.1(CC2D2A):c.644G>C (p.Arg215Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.646G>C (p.Ala216Pro)
|
|
|
|
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs)
|
rs746415983
|
|
|
NM_001378615.1(CC2D2A):c.663GGA[2] (p.Glu224del)
|
rs1553825978
|
|
|
NM_001378615.1(CC2D2A):c.664G>A (p.Glu222Lys)
|
rs2109007768
|
|
|
NM_001378615.1(CC2D2A):c.669G>A (p.Glu223=)
|
|
|
|
NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys)
|
rs1716561509
|
|
|
NM_001378615.1(CC2D2A):c.676G>T (p.Glu226Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
|
NM_001378615.1(CC2D2A):c.693T>G (p.Pro231=)
|
|
|
|
NM_001378615.1(CC2D2A):c.708A>T (p.Gly236=)
|
rs1716563559
|
|
|
NM_001378615.1(CC2D2A):c.715del (p.Met239fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.717+12C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.717+12C>T
|
rs776829032
|
|
|
NM_001378615.1(CC2D2A):c.717+13A>G
|
rs2109007872
|
|
|
NM_001378615.1(CC2D2A):c.717+15G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.717+18G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.717+19G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.717+1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.717+1G>T
|
rs1027674181
|
|
|
NM_001378615.1(CC2D2A):c.718-12A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.718-18C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.718-19A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.718-1G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.718-20T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.718-4G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.718-5T>C
|
rs1004108988
|
|
|
NM_001378615.1(CC2D2A):c.718-9A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.726A>G (p.Glu242=)
|
|
|
|
NM_001378615.1(CC2D2A):c.729A>G (p.Glu243=)
|
|
|
|
NM_001378615.1(CC2D2A):c.733C>T (p.Leu245Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.740G>T (p.Gly247Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.747T>C (p.Asp249=)
|
|
|
|
NM_001378615.1(CC2D2A):c.750C>A (p.Ala250=)
|
|
|
|
NM_001378615.1(CC2D2A):c.750C>G (p.Ala250=)
|
|
|
|
NM_001378615.1(CC2D2A):c.750C>T (p.Ala250=)
|
|
|
|
NM_001378615.1(CC2D2A):c.757T>C (p.Phe253Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.762A>C (p.Leu254=)
|
|
|
|
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)
|
rs116198081
|
|
|
NM_001378615.1(CC2D2A):c.765G>A (p.Leu255=)
|
|
|
|
NM_001378615.1(CC2D2A):c.77_83del (p.Arg26fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.781G>C (p.Ala261Pro)
|
rs2109011616
|
|
|
NM_001378615.1(CC2D2A):c.786C>A (p.Asp262Glu)
|
rs200434902
|
|
|
NM_001378615.1(CC2D2A):c.79C>T (p.Gln27Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.811G>A (p.Asp271Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.816T>C (p.Tyr272=)
|
rs2109011659
|
|
|
NM_001378615.1(CC2D2A):c.834G>A (p.Arg278=)
|
|
|
|
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs)
|
rs386833765
|
|
|
NM_001378615.1(CC2D2A):c.839del (p.Gln280fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.840G>A (p.Gln280=)
|
|
|
|
NM_001378615.1(CC2D2A):c.857T>A (p.Leu286His)
|
|
|
|
NM_001378615.1(CC2D2A):c.865C>T (p.Pro289Ser)
|
rs371405756
|
|
|
NM_001378615.1(CC2D2A):c.873G>A (p.Arg291=)
|
|
|
|
NM_001378615.1(CC2D2A):c.876G>A (p.Gln292=)
|
|
|
|
NM_001378615.1(CC2D2A):c.880+16A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.881-14del
|
|
|
|
NM_001378615.1(CC2D2A):c.881-15T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.881-5T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.881-6A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.881-7G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.881-7G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.882C>T (p.Val294=)
|
|
|
|
NM_001378615.1(CC2D2A):c.888A>G (p.Thr296=)
|
rs1716838439
|
|
|
NM_001378615.1(CC2D2A):c.889T>C (p.Tyr297His)
|
rs2109012755
|
|
|
NM_001378615.1(CC2D2A):c.902_903insGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGCTTCC (p.Glu302fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.906G>A (p.Glu302=)
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NM_001378615.1(CC2D2A):c.907A>T (p.Asn303Tyr)
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NM_001378615.1(CC2D2A):c.90C>T (p.Asn30=)
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NM_001378615.1(CC2D2A):c.918C>T (p.Pro306=)
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NM_001378615.1(CC2D2A):c.933T>C (p.Asp311=)
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NM_001378615.1(CC2D2A):c.941_943delinsC (p.Leu314fs)
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rs1445978091
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NM_001378615.1(CC2D2A):c.948C>A (p.Thr316=)
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rs201439700
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NM_001378615.1(CC2D2A):c.948del (p.Gly317_Val318insTer)
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rs2109012834
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NM_001378615.1(CC2D2A):c.951G>A (p.Gly317=)
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rs762984980
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NM_001378615.1(CC2D2A):c.963G>A (p.Glu321=)
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rs1207496034
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NM_001378615.1(CC2D2A):c.964del (p.Val322fs)
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rs1577340510
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NM_001378615.1(CC2D2A):c.967G>A (p.Ala323Thr)
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NM_001378615.1(CC2D2A):c.968C>T (p.Ala323Val)
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rs2109012891
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NM_001378615.1(CC2D2A):c.989T>C (p.Met330Thr)
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rs1553826997
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NM_001378615.1(CC2D2A):c.991G>A (p.Glu331Lys)
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rs954758606
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