ClinVar Miner

List of variants in gene CC2D2A reported as likely benign for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 878
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428 0.00732
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235 0.00265
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.1162G>A (p.Val388Ile) rs115924432 0.00089
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832 0.00073
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00067
NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln) rs200707391 0.00061
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) rs202150325 0.00059
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His) rs150093365 0.00057
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842 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.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.3976-18C>G rs375782772 0.00026
NM_001378615.1(CC2D2A):c.4675-15G>A rs377573053 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.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.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.718-10C>T rs182383712 0.00015
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=) rs376746356 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.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.332C>T (p.Ala111Val) rs137878385 0.00011
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=) rs556542553 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.4303G>A (p.Gly1435Ser) rs56265649 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.1598T>C (p.Val533Ala) rs777351655 0.00009
NM_001378615.1(CC2D2A):c.2182-8G>A rs370731685 0.00009
NM_001378615.1(CC2D2A):c.3772-4G>A rs369928983 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.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.4238G>A (p.Cys1413Tyr) rs146843542 0.00007
NM_001378615.1(CC2D2A):c.4512A>G (p.Leu1504=) rs762143074 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.1689C>T (p.His563=) rs755367503 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.3381A>G (p.Glu1127=) rs373780145 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.258A>G (p.Pro86=) rs199909714 0.00005
NM_001378615.1(CC2D2A):c.282C>T (p.Gly94=) rs182119485 0.00005
NM_001378615.1(CC2D2A):c.3618T>A (p.Asp1206Glu) rs766400907 0.00005
NM_001378615.1(CC2D2A):c.845A>C (p.Glu282Ala) rs760099299 0.00005
NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg) rs760839591 0.00004
NM_001378615.1(CC2D2A):c.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.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.2843G>A (p.Arg948Gln) rs532411276 0.00004
NM_001378615.1(CC2D2A):c.3501C>T (p.Asp1167=) rs779304750 0.00004
NM_001378615.1(CC2D2A):c.3643A>G (p.Ser1215Gly) rs765661601 0.00004
NM_001378615.1(CC2D2A):c.4116G>A (p.Leu1372=) rs766991790 0.00004
NM_001378615.1(CC2D2A):c.415T>C (p.Leu139=) rs570078140 0.00004
NM_001378615.1(CC2D2A):c.4452T>A (p.Ile1484=) rs373762896 0.00004
NM_001378615.1(CC2D2A):c.518G>A (p.Arg173Gln) rs745699870 0.00004
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.2181+17T>C rs1016233369 0.00003
NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=) rs1379770755 0.00003
NM_001378615.1(CC2D2A):c.2387T>G (p.Met796Arg) rs367560550 0.00003
NM_001378615.1(CC2D2A):c.2487-17T>C rs909380640 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.388C>T (p.Arg130Cys) rs886042463 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.439-13T>G rs1305181844 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.1140G>A (p.Leu380=) rs373742688 0.00002
NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=) rs368116362 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.2003+16G>A rs746051826 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.2626-12C>T rs571780110 0.00002
NM_001378615.1(CC2D2A):c.2830-18G>A rs969121617 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.3132G>A (p.Leu1044=) rs929422473 0.00002
NM_001378615.1(CC2D2A):c.3183-17T>C rs961448334 0.00002
NM_001378615.1(CC2D2A):c.3771+11A>C rs955623216 0.00002
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln) rs748886997 0.00002
NM_001378615.1(CC2D2A):c.4080C>T (p.Leu1360=) rs777093551 0.00002
NM_001378615.1(CC2D2A):c.648G>A (p.Ala216=) rs1415780433 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.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.1209T>C (p.Asn403=) rs764983506 0.00001
NM_001378615.1(CC2D2A):c.1299G>A (p.Gln433=) rs1717581475 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.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.1836C>T (p.Pro612=) rs763567590 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.1927A>C (p.Arg643=) rs1048216556 0.00001
NM_001378615.1(CC2D2A):c.2004-17A>G rs759192059 0.00001
NM_001378615.1(CC2D2A):c.2061G>A (p.Leu687=) rs182372139 0.00001
NM_001378615.1(CC2D2A):c.2103A>G (p.Leu701=) rs1236071005 0.00001
NM_001378615.1(CC2D2A):c.2184C>T (p.Val728=) rs1718959533 0.00001
NM_001378615.1(CC2D2A):c.2400A>G (p.Lys800=) rs371834330 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+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.2580C>T (p.Leu860=) rs955087884 0.00001
NM_001378615.1(CC2D2A):c.2652C>G (p.Val884=) rs944541785 0.00001
NM_001378615.1(CC2D2A):c.279A>G (p.Thr93=) rs987594766 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.2923-9T>C rs753188706 0.00001
NM_001378615.1(CC2D2A):c.2994A>G (p.Glu998=) rs1044670589 0.00001
NM_001378615.1(CC2D2A):c.3015-9A>C rs1010285962 0.00001
NM_001378615.1(CC2D2A):c.3072G>A (p.Arg1024=) rs886044669 0.00001
NM_001378615.1(CC2D2A):c.3114T>C (p.Asp1038=) rs781371086 0.00001
NM_001378615.1(CC2D2A):c.3126G>A (p.Lys1042=) rs767804652 0.00001
NM_001378615.1(CC2D2A):c.3144G>A (p.Val1048=) rs1185288924 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.3249G>A (p.Thr1083=) rs200431110 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.3398+7A>G rs772784324 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.3595-11T>A rs1476484459 0.00001
NM_001378615.1(CC2D2A):c.3772-5_3772-4del rs1484994421 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.3996G>A (p.Val1332=) rs751553707 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.4197G>A (p.Val1399=) rs897543991 0.00001
NM_001378615.1(CC2D2A):c.4200A>G (p.Leu1400=) rs1720998446 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+9T>C rs775606863 0.00001
NM_001378615.1(CC2D2A):c.439-5T>A rs369244755 0.00001
NM_001378615.1(CC2D2A):c.4438-4A>G rs1463104948 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.4551T>C (p.Thr1517=) rs756862259 0.00001
NM_001378615.1(CC2D2A):c.4599G>A (p.Leu1533=) rs556117615 0.00001
NM_001378615.1(CC2D2A):c.4674+13T>C rs1216887028 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.4680T>C (p.Ser1560=) rs752706778 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.541-6C>T rs757151024 0.00001
NM_001378615.1(CC2D2A):c.576T>C (p.Tyr192=) rs536646769 0.00001
NM_001378615.1(CC2D2A):c.707G>A (p.Gly236Glu) rs773437112 0.00001
NM_001378615.1(CC2D2A):c.717+8A>G rs1716564777 0.00001
NM_001378615.1(CC2D2A):c.832C>A (p.Arg278=) rs372873919 0.00001
NM_001378615.1(CC2D2A):c.880+7G>A rs1445614932 0.00001
NM_001378615.1(CC2D2A):c.930A>G (p.Glu310=) rs1256968285 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.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+7G>T rs137919504
NM_001378615.1(CC2D2A):c.1018-14T>C
NM_001378615.1(CC2D2A):c.1018-18C>T
NM_001378615.1(CC2D2A):c.1018-20T>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.1044C>T (p.Gly348=)
NM_001378615.1(CC2D2A):c.1068C>T (p.Pro356=) rs2109013744
NM_001378615.1(CC2D2A):c.1071C>T (p.Ile357=)
NM_001378615.1(CC2D2A):c.1092G>A (p.Pro364=)
NM_001378615.1(CC2D2A):c.1092G>T (p.Pro364=) rs774216288
NM_001378615.1(CC2D2A):c.1098A>T (p.Val366=)
NM_001378615.1(CC2D2A):c.1101A>G (p.Leu367=)
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.1127_1128delinsCA (p.Glu376Ala)
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.119A>C (p.Lys40Thr)
NM_001378615.1(CC2D2A):c.1203T>C (p.Pro401=) rs940435544
NM_001378615.1(CC2D2A):c.1218G>C (p.Leu406=)
NM_001378615.1(CC2D2A):c.123+16A>G
NM_001378615.1(CC2D2A):c.123+23_123+24del rs960925783
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.124-9T>C
NM_001378615.1(CC2D2A):c.124-9_124-7del
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.12G>A (p.Arg4=)
NM_001378615.1(CC2D2A):c.1305T>C (p.Tyr435=)
NM_001378615.1(CC2D2A):c.1350T>C (p.Leu450=)
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+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.1365A>G (p.Gln455=)
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.1401A>C (p.Pro467=) rs886059136
NM_001378615.1(CC2D2A):c.1422C>G (p.Leu474=) rs377448964
NM_001378615.1(CC2D2A):c.1425T>C (p.Asp475=)
NM_001378615.1(CC2D2A):c.1431C>A (p.Ile477=)
NM_001378615.1(CC2D2A):c.1452T>C (p.Tyr484=) rs2109025199
NM_001378615.1(CC2D2A):c.1466+13T>C
NM_001378615.1(CC2D2A):c.1466+14_1466+16del rs751142207
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.1467-20T>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.1485T>C (p.Arg495=)
NM_001378615.1(CC2D2A):c.1494A>G (p.Glu498=)
NM_001378615.1(CC2D2A):c.149T>A (p.Met50Lys) rs765810643
NM_001378615.1(CC2D2A):c.1512A>G (p.Thr504=)
NM_001378615.1(CC2D2A):c.1524T>C (p.Thr508=)
NM_001378615.1(CC2D2A):c.1545G>A (p.Glu515=)
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.1607+19T>G
NM_001378615.1(CC2D2A):c.1607+24_1607+28del rs2109029956
NM_001378615.1(CC2D2A):c.1608-18C>A rs1303472925
NM_001378615.1(CC2D2A):c.1629A>C (p.Ala543=)
NM_001378615.1(CC2D2A):c.1638A>G (p.Glu546=)
NM_001378615.1(CC2D2A):c.165C>A (p.Ser55=)
NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=) rs794727713
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.1692G>A (p.Thr564=)
NM_001378615.1(CC2D2A):c.1695G>A (p.Glu565=)
NM_001378615.1(CC2D2A):c.1710G>A (p.Lys570=)
NM_001378615.1(CC2D2A):c.1722C>T (p.Tyr574=)
NM_001378615.1(CC2D2A):c.1731G>T (p.Ser577=)
NM_001378615.1(CC2D2A):c.174C>T (p.Gly58=)
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.1765-20T>C rs1718218659
NM_001378615.1(CC2D2A):c.1765-24_1765-18del
NM_001378615.1(CC2D2A):c.1797A>G (p.Ala599=)
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.1863T>A (p.Pro621=)
NM_001378615.1(CC2D2A):c.1866A>C (p.Pro622=) rs1560171734
NM_001378615.1(CC2D2A):c.1872C>T (p.Pro624=)
NM_001378615.1(CC2D2A):c.1902G>A (p.Val634=) rs1293349023
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.1953C>G (p.Val651=)
NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=) rs550913315
NM_001378615.1(CC2D2A):c.1977C>T (p.Ser659=) rs2109035405
NM_001378615.1(CC2D2A):c.1986C>G (p.Pro662=)
NM_001378615.1(CC2D2A):c.1998C>T (p.Cys666=)
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.2004-6T>C
NM_001378615.1(CC2D2A):c.2010G>A (p.Glu670=)
NM_001378615.1(CC2D2A):c.201G>A (p.Glu67=)
NM_001378615.1(CC2D2A):c.2040C>A (p.Arg680=)
NM_001378615.1(CC2D2A):c.2040C>G (p.Arg680=)
NM_001378615.1(CC2D2A):c.2049C>T (p.Tyr683=)
NM_001378615.1(CC2D2A):c.2058G>A (p.Val686=)
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.2106A>G (p.Gly702=)
NM_001378615.1(CC2D2A):c.2115C>T (p.Phe705=)
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.2154C>T (p.Val718=)
NM_001378615.1(CC2D2A):c.2163G>T (p.Pro721=)
NM_001378615.1(CC2D2A):c.2175A>G (p.Thr725=)
NM_001378615.1(CC2D2A):c.2178T>G (p.Leu726=)
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+20T>C
NM_001378615.1(CC2D2A):c.2182-11C>T
NM_001378615.1(CC2D2A):c.2182-11_2182-10del
NM_001378615.1(CC2D2A):c.2182-4T>C
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.2253T>C (p.Thr751=)
NM_001378615.1(CC2D2A):c.2259C>G (p.Val753=)
NM_001378615.1(CC2D2A):c.2268G>A (p.Arg756=)
NM_001378615.1(CC2D2A):c.2277T>C (p.Thr759=)
NM_001378615.1(CC2D2A):c.2322C>T (p.His774=)
NM_001378615.1(CC2D2A):c.2338+14A>G
NM_001378615.1(CC2D2A):c.2338+14del rs1560178133
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.2367C>A (p.Gly789=)
NM_001378615.1(CC2D2A):c.2397G>A (p.Gly799=) rs1577370765
NM_001378615.1(CC2D2A):c.2403G>A (p.Val801=)
NM_001378615.1(CC2D2A):c.2415G>A (p.Val805=)
NM_001378615.1(CC2D2A):c.2445T>C (p.Pro815=)
NM_001378615.1(CC2D2A):c.2458T>C (p.Leu820=)
NM_001378615.1(CC2D2A):c.2469G>A (p.Gln823=)
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+9C>G
NM_001378615.1(CC2D2A):c.2472C>T (p.Asn824=)
NM_001378615.1(CC2D2A):c.248-25TTTTGT[2]
NM_001378615.1(CC2D2A):c.248-8T>C
NM_001378615.1(CC2D2A):c.2482C>A (p.Arg828=)
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+9T>C rs768382177
NM_001378615.1(CC2D2A):c.2487-4T>G rs900632187
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.2551T>C (p.Leu851=)
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.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+7A>G
NM_001378615.1(CC2D2A):c.2625+9C>G
NM_001378615.1(CC2D2A):c.2625+9C>T
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.2640T>C (p.Gly880=)
NM_001378615.1(CC2D2A):c.2649T>C (p.Tyr883=)
NM_001378615.1(CC2D2A):c.2670G>A (p.Leu890=)
NM_001378615.1(CC2D2A):c.2673G>A (p.Glu891=)
NM_001378615.1(CC2D2A):c.2688G>A (p.Glu896=) rs2109058103
NM_001378615.1(CC2D2A):c.2718T>C (p.Asn906=)
NM_001378615.1(CC2D2A):c.2724C>T (p.Ser908=)
NM_001378615.1(CC2D2A):c.2772C>T (p.Phe924=)
NM_001378615.1(CC2D2A):c.2796C>T (p.Val932=)
NM_001378615.1(CC2D2A):c.279A>T (p.Thr93=)
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.2830-14C>T
NM_001378615.1(CC2D2A):c.2830-16C>A
NM_001378615.1(CC2D2A):c.2830-18G>T
NM_001378615.1(CC2D2A):c.2830-20T>C
NM_001378615.1(CC2D2A):c.2830-8A>T
NM_001378615.1(CC2D2A):c.2835T>C (p.Tyr945=) rs1719439232
NM_001378615.1(CC2D2A):c.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.2877A>G (p.Glu959=)
NM_001378615.1(CC2D2A):c.2886C>T (p.Asp962=) rs2109060199
NM_001378615.1(CC2D2A):c.2892T>C (p.His964=)
NM_001378615.1(CC2D2A):c.2895G>A (p.Arg965=)
NM_001378615.1(CC2D2A):c.2916C>G (p.Leu972=)
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.2923-3del
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.2928A>G (p.Arg976=)
NM_001378615.1(CC2D2A):c.2934A>G (p.Ser978=)
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.2982T>C (p.Asp994=)
NM_001378615.1(CC2D2A):c.2991A>G (p.Val997=) rs2109061736
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.3015-14T>C
NM_001378615.1(CC2D2A):c.3015-19C>G
NM_001378615.1(CC2D2A):c.3015-5A>G
NM_001378615.1(CC2D2A):c.3064C>A (p.Arg1022=)
NM_001378615.1(CC2D2A):c.3066G>A (p.Arg1022=) rs2109065234
NM_001378615.1(CC2D2A):c.3075A>G (p.Arg1025=)
NM_001378615.1(CC2D2A):c.3145C>A (p.Arg1049=) rs386833750
NM_001378615.1(CC2D2A):c.3147A>G (p.Arg1049=)
NM_001378615.1(CC2D2A):c.315G>A (p.Arg105=)
NM_001378615.1(CC2D2A):c.3177A>G (p.Ala1059=)
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.3183-12T>G
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.322T>C (p.Leu108=)
NM_001378615.1(CC2D2A):c.3267T>C (p.Asn1089=)
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.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+9T>C
NM_001378615.1(CC2D2A):c.3289-15G>C rs2109070538
NM_001378615.1(CC2D2A):c.3303C>G (p.Pro1101=)
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
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.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.337-7T>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.3405T>C (p.Pro1135=)
NM_001378615.1(CC2D2A):c.3426C>T (p.Ala1142=)
NM_001378615.1(CC2D2A):c.3447T>C (p.Asp1149=)
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.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.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.3519A>T (p.Gly1173=) rs2109073915
NM_001378615.1(CC2D2A):c.354A>G (p.Ala118=)
NM_001378615.1(CC2D2A):c.354A>T (p.Ala118=)
NM_001378615.1(CC2D2A):c.3567A>G (p.Pro1189=) rs1553841140
NM_001378615.1(CC2D2A):c.3576A>G (p.Thr1192=) rs953629205
NM_001378615.1(CC2D2A):c.357G>A (p.Leu119=)
NM_001378615.1(CC2D2A):c.3585C>T (p.Phe1195=)
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.3595-4A>T
NM_001378615.1(CC2D2A):c.3595-5C>G
NM_001378615.1(CC2D2A):c.363G>A (p.Gln121=)
NM_001378615.1(CC2D2A):c.3648G>A (p.Lys1216=)
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.369C>A (p.Ile123=)
NM_001378615.1(CC2D2A):c.3711C>T (p.Tyr1237=)
NM_001378615.1(CC2D2A):c.3717C>G (p.Thr1239=)
NM_001378615.1(CC2D2A):c.3732T>C (p.Ile1244=)
NM_001378615.1(CC2D2A):c.3744G>A (p.Leu1248=)
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.3777G>A (p.Glu1259=)
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.3810T>A (p.Thr1270=)
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.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.3882C>T (p.Ser1294=)
NM_001378615.1(CC2D2A):c.3885A>G (p.Gly1295=)
NM_001378615.1(CC2D2A):c.3891T>G (p.Thr1297=)
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.3900C>T (p.Ile1300=) rs2109083429
NM_001378615.1(CC2D2A):c.390C>T (p.Arg130=)
NM_001378615.1(CC2D2A):c.3919T>C (p.Leu1307=)
NM_001378615.1(CC2D2A):c.3924C>T (p.Asn1308=)
NM_001378615.1(CC2D2A):c.3927T>G (p.Pro1309=)
NM_001378615.1(CC2D2A):c.3936G>A (p.Glu1312=)
NM_001378615.1(CC2D2A):c.394C>A (p.Arg132=)
NM_001378615.1(CC2D2A):c.3957T>C (p.Asn1319=) rs2109083467
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+8T>C
NM_001378615.1(CC2D2A):c.3976-14T>C
NM_001378615.1(CC2D2A):c.3976-5T>C
NM_001378615.1(CC2D2A):c.3984G>A (p.Val1328=)
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.4014G>A (p.Leu1338=)
NM_001378615.1(CC2D2A):c.4023T>C (p.Thr1341=)
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+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.4066-16T>G
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.408G>A (p.Lys136=)
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp) rs557038070
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.4125C>T (p.Tyr1375=)
NM_001378615.1(CC2D2A):c.4128T>C (p.Phe1376=)
NM_001378615.1(CC2D2A):c.4149C>G (p.Ala1383=)
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+8C>A rs2109090417
NM_001378615.1(CC2D2A):c.4179+8C>T
NM_001378615.1(CC2D2A):c.4180-20T>C
NM_001378615.1(CC2D2A):c.4191C>G (p.Ala1397=)
NM_001378615.1(CC2D2A):c.4203T>G (p.Thr1401=)
NM_001378615.1(CC2D2A):c.4209G>A (p.Glu1403=)
NM_001378615.1(CC2D2A):c.4221T>C (p.Tyr1407=)
NM_001378615.1(CC2D2A):c.4222T>C (p.Leu1408=)
NM_001378615.1(CC2D2A):c.4248T>C (p.His1416=)
NM_001378615.1(CC2D2A):c.4254T>C (p.Tyr1418=)
NM_001378615.1(CC2D2A):c.4287T>C (p.Asn1429=)
NM_001378615.1(CC2D2A):c.4290G>A (p.Val1430=)
NM_001378615.1(CC2D2A):c.429T>C (p.Phe143=)
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.4315-7T>G
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.438+12C>T
NM_001378615.1(CC2D2A):c.438+15_438+18del rs1716044858
NM_001378615.1(CC2D2A):c.438+20C>T
NM_001378615.1(CC2D2A):c.439-13T>C
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.439-6A>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.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+7del
NM_001378615.1(CC2D2A):c.4437+8T>A
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.4464A>T (p.Ser1488=)
NM_001378615.1(CC2D2A):c.4491A>G (p.Gln1497=) rs863225179
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+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.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.4545T>C (p.His1515=)
NM_001378615.1(CC2D2A):c.4554G>C (p.Arg1518=) rs755691801
NM_001378615.1(CC2D2A):c.4569T>C (p.Cys1523=)
NM_001378615.1(CC2D2A):c.4602A>G (p.Leu1534=)
NM_001378615.1(CC2D2A):c.4632T>C (p.Asp1544=)
NM_001378615.1(CC2D2A):c.465A>G (p.Gln155=)
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.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.4704T>C (p.Tyr1568=)
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.4740T>C (p.Ser1580=) rs759221177
NM_001378615.1(CC2D2A):c.4746A>C (p.Gly1582=) rs2148497436
NM_001378615.1(CC2D2A):c.4752T>C (p.His1584=)
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.4811A>G (p.Lys1604Arg)
NM_001378615.1(CC2D2A):c.4819T>C (p.Leu1607=) rs1197953378
NM_001378615.1(CC2D2A):c.4836T>C (p.Tyr1612=)
NM_001378615.1(CC2D2A):c.4848T>C (p.Leu1616=) rs1396115620
NM_001378615.1(CC2D2A):c.4848T>G (p.Leu1616=)
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.495A>G (p.Arg165=)
NM_001378615.1(CC2D2A):c.501G>A (p.Lys167=)
NM_001378615.1(CC2D2A):c.507T>C (p.His169=)
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+20A>G
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.541-5G>T
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.558T>C (p.Pro186=)
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.639A>G (p.Arg213=) rs750290771
NM_001378615.1(CC2D2A):c.63T>C (p.Asp21=) rs1714407530
NM_001378615.1(CC2D2A):c.669G>A (p.Glu223=)
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.693T>G (p.Pro231=)
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.718-12A>G
NM_001378615.1(CC2D2A):c.718-18C>T
NM_001378615.1(CC2D2A):c.718-19A>G
NM_001378615.1(CC2D2A):c.718-20T>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.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.762A>C (p.Leu254=)
NM_001378615.1(CC2D2A):c.765G>A (p.Leu255=)
NM_001378615.1(CC2D2A):c.816T>C (p.Tyr272=) rs2109011659
NM_001378615.1(CC2D2A):c.834G>A (p.Arg278=)
NM_001378615.1(CC2D2A):c.840G>A (p.Gln280=)
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.90C>T (p.Asn30=)
NM_001378615.1(CC2D2A):c.933T>C (p.Asp311=)
NM_001378615.1(CC2D2A):c.948C>A (p.Thr316=) rs201439700
NM_001378615.1(CC2D2A):c.951G>A (p.Gly317=) rs762984980
NM_001378615.1(CC2D2A):c.963G>A (p.Glu321=) rs1207496034

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