ClinVar Miner

List of variants in gene CC2D2A reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1669
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
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.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.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.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.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.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.2182-9G>A rs376312792 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.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.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.3008A>G (p.Asn1003Ser) rs376663620 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.3154G>A (p.Asp1052Asn) rs1055487228 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.970C>T (p.Arg324Cys) rs376969878 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.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_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.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.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.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.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.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.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.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.(?_15478346)_(15482422_?)del
NC_000004.11:g.(?_15480327)_(15482471_?)del
NC_000004.11:g.(?_15480341)_(15482457_?)del
NC_000004.11:g.(?_15529050)_(15530369_?)del
NC_000004.11:g.(?_15565496)_(15581640_?)del
NC_000004.11:g.(?_15568980)_(15569429_?)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.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.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
NM_001378615.1(CC2D2A):c.124-9_124-7del
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.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.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
NM_001378615.1(CC2D2A):c.1359+19A>T
NM_001378615.1(CC2D2A):c.1359+1G>C
NM_001378615.1(CC2D2A):c.1359+7G>T
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
NM_001378615.1(CC2D2A):c.1360-15C>G
NM_001378615.1(CC2D2A):c.1360-8G>A
NM_001378615.1(CC2D2A):c.1360-9C>T
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=)
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=)
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=)
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
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
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
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.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.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.1824A>T (p.Ala608=)
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.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.2181+9T>C rs1577360769
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.2339-12G>A
NM_001378615.1(CC2D2A):c.2339-12G>C
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.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.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.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>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.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.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.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
NM_001378615.1(CC2D2A):c.3398+18T>C
NM_001378615.1(CC2D2A):c.3398+19T>C
NM_001378615.1(CC2D2A):c.3398+7A>T
NM_001378615.1(CC2D2A):c.3398+7del
NM_001378615.1(CC2D2A):c.3398+9A>G
NM_001378615.1(CC2D2A):c.3399-12G>A
NM_001378615.1(CC2D2A):c.3399-12G>C
NM_001378615.1(CC2D2A):c.3399-14G>A
NM_001378615.1(CC2D2A):c.3399-1G>C
NM_001378615.1(CC2D2A):c.3399-3C>A rs386833753
NM_001378615.1(CC2D2A):c.3405T>C (p.Pro1135=)
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
NM_001378615.1(CC2D2A):c.3445G>A (p.Asp1149Asn)
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)
NM_001378615.1(CC2D2A):c.3469_3476del (p.Asp1157fs)
NM_001378615.1(CC2D2A):c.3471T>C (p.Asp1157=)
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)
NM_001378615.1(CC2D2A):c.3485A>C (p.Asp1162Ala)
NM_001378615.1(CC2D2A):c.3486T>C (p.Asp1162=)
NM_001378615.1(CC2D2A):c.348A>G (p.Glu116=)
NM_001378615.1(CC2D2A):c.3490T>C (p.Leu1164=)
NM_001378615.1(CC2D2A):c.3495+11A>C
NM_001378615.1(CC2D2A):c.3495+11A>G rs2109072768
NM_001378615.1(CC2D2A):c.3495+12G>C
NM_001378615.1(CC2D2A):c.3495+15T>C
NM_001378615.1(CC2D2A):c.3495+20A>G
NM_001378615.1(CC2D2A):c.3496-11C>A
NM_001378615.1(CC2D2A):c.3496-11C>G
NM_001378615.1(CC2D2A):c.3496-14C>T
NM_001378615.1(CC2D2A):c.3496-15C>T
NM_001378615.1(CC2D2A):c.3496-18T>C
NM_001378615.1(CC2D2A):c.3496-19C>T
NM_001378615.1(CC2D2A):c.3496-20A>G rs1720099977
NM_001378615.1(CC2D2A):c.3496-7C>T
NM_001378615.1(CC2D2A):c.3496-8del
NM_001378615.1(CC2D2A):c.3505G>T (p.Glu1169Ter)
NM_001378615.1(CC2D2A):c.3519A>T (p.Gly1173=) rs2109073915
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.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
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.3616G>T (p.Asp1206Tyr)
NM_001378615.1(CC2D2A):c.3620T>C (p.Ile1207Thr) rs2109077863
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.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.3993T>C (p.Tyr1331=)
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.4066-5G>T rs1355004331
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.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.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.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+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.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.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.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.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.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.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=)
NM_001378615.1(CC2D2A):c.907A>T (p.Asn303Tyr)
NM_001378615.1(CC2D2A):c.90C>T (p.Asn30=)
NM_001378615.1(CC2D2A):c.918C>T (p.Pro306=)
NM_001378615.1(CC2D2A):c.933T>C (p.Asp311=)
NM_001378615.1(CC2D2A):c.941_943delinsC (p.Leu314fs) rs1445978091
NM_001378615.1(CC2D2A):c.948C>A (p.Thr316=) rs201439700
NM_001378615.1(CC2D2A):c.948del (p.Gly317_Val318insTer) rs2109012834
NM_001378615.1(CC2D2A):c.951G>A (p.Gly317=) rs762984980
NM_001378615.1(CC2D2A):c.963G>A (p.Glu321=) rs1207496034
NM_001378615.1(CC2D2A):c.964del (p.Val322fs) rs1577340510
NM_001378615.1(CC2D2A):c.967G>A (p.Ala323Thr)
NM_001378615.1(CC2D2A):c.968C>T (p.Ala323Val) rs2109012891
NM_001378615.1(CC2D2A):c.981G>A (p.Gln327=) rs556015115
NM_001378615.1(CC2D2A):c.989T>C (p.Met330Thr) rs1553826997
NM_001378615.1(CC2D2A):c.991G>A (p.Glu331Lys) rs954758606

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.