ClinVar Miner

List of variants in gene CC2D2A reported as uncertain significance for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 621
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_001378615.1(CC2D2A):c.-18-2673G>A rs183968785 0.00636
NM_001378615.1(CC2D2A):c.-87G>A rs145443888 0.00305
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235 0.00265
NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser) rs143947747 0.00194
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635 0.00120
NM_001378615.1(CC2D2A):c.-47G>A rs778112215 0.00100
NM_001378615.1(CC2D2A):c.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.*45G>C rs372449768 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.*1T>A rs199945435 0.00042
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr) rs199695154 0.00039
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421 0.00036
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=) rs373296447 0.00034
NM_001378615.1(CC2D2A):c.3399-15T>C rs181612746 0.00033
NM_001378615.1(CC2D2A):c.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.501G>T (p.Lys167Asn) rs190694237 0.00026
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700 0.00024
NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys) rs374554530 0.00024
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078 0.00023
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973 0.00022
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) rs200236654 0.00021
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly) rs747204358 0.00021
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129 0.00018
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=) rs371608031 0.00015
NM_001378615.1(CC2D2A):c.3368G>A (p.Ser1123Asn) rs377404804 0.00015
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=) rs376746356 0.00014
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=) rs185072004 0.00014
NM_001378615.1(CC2D2A):c.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.2597A>G (p.Asn866Ser) rs199563573 0.00012
NM_001378615.1(CC2D2A):c.4005T>A (p.Ile1335=) rs199688524 0.00012
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu) rs368886216 0.00011
NM_001378615.1(CC2D2A):c.717+11T>C rs184351317 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.4659G>C (p.Gln1553His) rs375083236 0.00010
NM_001378615.1(CC2D2A):c.1484G>A (p.Arg495His) rs373906628 0.00009
NM_001378615.1(CC2D2A):c.1766G>A (p.Arg589Lys) rs763477416 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.3872T>C (p.Ile1291Thr) rs370492044 0.00009
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430 0.00009
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.4541G>A (p.Arg1514His) rs368191427 0.00007
NM_001378615.1(CC2D2A):c.950G>T (p.Gly317Val) rs775632403 0.00007
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.2542A>C (p.Met848Leu) rs376403848 0.00006
NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu) rs200034384 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.932A>G (p.Asp311Gly) rs375247004 0.00006
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.3514A>G (p.Ser1172Gly) rs371924209 0.00005
NM_001378615.1(CC2D2A):c.4540C>T (p.Arg1514Cys) rs756324214 0.00005
NM_001378615.1(CC2D2A):c.1091C>T (p.Pro364Leu) rs768618373 0.00004
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val) rs775138548 0.00004
NM_001378615.1(CC2D2A):c.1859G>A (p.Ser620Asn) rs373797532 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.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.3640T>C (p.Tyr1214His) rs759970546 0.00004
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala) rs387907058 0.00004
NM_001378615.1(CC2D2A):c.4766C>G (p.Pro1589Arg) rs374301736 0.00004
NM_001378615.1(CC2D2A):c.541G>A (p.Val181Ile) rs745646755 0.00004
NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878 0.00004
NM_001378615.1(CC2D2A):c.1093C>G (p.Pro365Ala) rs375385399 0.00003
NM_001378615.1(CC2D2A):c.10A>G (p.Arg4Gly) rs758963962 0.00003
NM_001378615.1(CC2D2A):c.1153G>A (p.Val385Ile) rs1401215213 0.00003
NM_001378615.1(CC2D2A):c.1426A>G (p.Thr476Ala) rs777726035 0.00003
NM_001378615.1(CC2D2A):c.1451A>G (p.Tyr484Cys) rs746279803 0.00003
NM_001378615.1(CC2D2A):c.2141A>G (p.Asn714Ser) rs771224275 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.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.3631C>G (p.Leu1211Val) rs753905430 0.00003
NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg) rs763466980 0.00003
NM_001378615.1(CC2D2A):c.389G>A (p.Arg130His) rs778519147 0.00003
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg) rs587779732 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.1017C>T (p.Pro339=) rs777522814 0.00002
NM_001378615.1(CC2D2A):c.1081C>T (p.Pro361Ser) rs748850069 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.152T>C (p.Val51Ala) rs375163284 0.00002
NM_001378615.1(CC2D2A):c.166C>T (p.His56Tyr) rs758324715 0.00002
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu) rs543650388 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.2025G>C (p.Glu675Asp) rs756383263 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.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.2842C>T (p.Arg948Trp) rs563295435 0.00002
NM_001378615.1(CC2D2A):c.3082C>T (p.Arg1028Trp) rs770004990 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.3374A>G (p.Asn1125Ser) rs746358327 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.3773T>C (p.Phe1258Ser) rs1485903880 0.00002
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln) rs748886997 0.00002
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser) rs745599580 0.00002
NM_001378615.1(CC2D2A):c.4345C>G (p.Pro1449Ala) rs375410796 0.00002
NM_001378615.1(CC2D2A):c.4635C>A (p.Asp1545Glu) rs776642347 0.00002
NM_001378615.1(CC2D2A):c.4688C>G (p.Pro1563Arg) rs886059186 0.00002
NM_001378615.1(CC2D2A):c.4724T>C (p.Ile1575Thr) rs551243983 0.00002
NM_001378615.1(CC2D2A):c.4838T>C (p.Val1613Ala) rs769264337 0.00002
NM_001378615.1(CC2D2A):c.4850T>C (p.Ile1617Thr) rs371868705 0.00002
NM_001378615.1(CC2D2A):c.566A>G (p.Glu189Gly) rs762024789 0.00002
NM_001378615.1(CC2D2A):c.56A>T (p.Asp19Val) rs1403239059 0.00002
NM_001378615.1(CC2D2A):c.778G>A (p.Val260Met) rs918403472 0.00002
NM_001378615.1(CC2D2A):c.823A>G (p.Ile275Val) rs368471984 0.00002
NM_001080522.2(CC2D2A):c.*144A>C rs920755267 0.00001
NM_001378615.1(CC2D2A):c.*94T>C rs1296848672 0.00001
NM_001378615.1(CC2D2A):c.1018-11T>C rs200340261 0.00001
NM_001378615.1(CC2D2A):c.1019A>C (p.Glu340Ala) rs1450279703 0.00001
NM_001378615.1(CC2D2A):c.1027T>C (p.Trp343Arg) rs1222588033 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.1222A>G (p.Ile408Val) rs1196012902 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.1672G>A (p.Glu558Lys) rs766924214 0.00001
NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr) rs368669579 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.1855C>T (p.Pro619Ser) rs1427654469 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.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.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.2077G>A (p.Val693Met) rs1402828879 0.00001
NM_001378615.1(CC2D2A):c.2095C>T (p.Arg699Trp) rs754058720 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.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.2404T>C (p.Ser802Pro) rs1194338259 0.00001
NM_001378615.1(CC2D2A):c.2417C>T (p.Ala806Val) rs769808709 0.00001
NM_001378615.1(CC2D2A):c.2486+8A>G rs749186859 0.00001
NM_001378615.1(CC2D2A):c.2487-6T>C rs767335431 0.00001
NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe) rs765820512 0.00001
NM_001378615.1(CC2D2A):c.2526A>G (p.Thr842=) rs886059158 0.00001
NM_001378615.1(CC2D2A):c.2534T>C (p.Leu845Pro) rs1481526699 0.00001
NM_001378615.1(CC2D2A):c.2605C>A (p.Pro869Thr) rs772863864 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.2780A>C (p.Tyr927Ser) rs915290953 0.00001
NM_001378615.1(CC2D2A):c.280G>C (p.Gly94Arg) rs1435144536 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.3008A>G (p.Asn1003Ser) rs376663620 0.00001
NM_001378615.1(CC2D2A):c.305G>A (p.Gly102Glu) rs373765548 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.3115G>A (p.Gly1039Arg) rs1358156436 0.00001
NM_001378615.1(CC2D2A):c.3146G>A (p.Arg1049Gln) rs1192970855 0.00001
NM_001378615.1(CC2D2A):c.3154G>A (p.Asp1052Asn) rs1055487228 0.00001
NM_001378615.1(CC2D2A):c.3200C>T (p.Ser1067Leu) rs886059181 0.00001
NM_001378615.1(CC2D2A):c.3263A>C (p.His1088Pro) rs1295889715 0.00001
NM_001378615.1(CC2D2A):c.3272A>T (p.Asp1091Val) rs763775613 0.00001
NM_001378615.1(CC2D2A):c.3398+7A>G rs772784324 0.00001
NM_001378615.1(CC2D2A):c.3401C>T (p.Ala1134Val) rs375903728 0.00001
NM_001378615.1(CC2D2A):c.3424G>C (p.Ala1142Pro) rs1277091809 0.00001
NM_001378615.1(CC2D2A):c.3458T>C (p.Ile1153Thr) rs1410133502 0.00001
NM_001378615.1(CC2D2A):c.3495G>A (p.Glu1165=) rs374241960 0.00001
NM_001378615.1(CC2D2A):c.3524A>G (p.His1175Arg) rs886059184 0.00001
NM_001378615.1(CC2D2A):c.3529C>T (p.Arg1177Cys) rs371561652 0.00001
NM_001378615.1(CC2D2A):c.3533T>C (p.Ile1178Thr) rs376674451 0.00001
NM_001378615.1(CC2D2A):c.3580T>C (p.Tyr1194His) rs756905415 0.00001
NM_001378615.1(CC2D2A):c.3594+5G>A rs863225181 0.00001
NM_001378615.1(CC2D2A):c.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.383C>T (p.Pro128Leu) rs768439693 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.4178A>C (p.Glu1393Ala) rs1258451179 0.00001
NM_001378615.1(CC2D2A):c.4180-5T>C rs766234817 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.4396T>G (p.Phe1466Val) rs1170583979 0.00001
NM_001378615.1(CC2D2A):c.4400C>T (p.Ser1467Leu) rs1041487733 0.00001
NM_001378615.1(CC2D2A):c.4526T>C (p.Met1509Thr) rs760863691 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+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.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.541-5G>A rs369022150 0.00001
NM_001378615.1(CC2D2A):c.55G>C (p.Asp19His) rs755345164 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.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>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.880G>C (p.Val294Leu) rs201986486 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.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.15589466_15589468delGAA rs794729225
NM_001378615.1(CC2D2A):c.-178T>C rs886059135
NM_001378615.1(CC2D2A):c.1017+3A>G
NM_001378615.1(CC2D2A):c.1017+5G>A rs2109012967
NM_001378615.1(CC2D2A):c.1042G>A (p.Gly348Ser)
NM_001378615.1(CC2D2A):c.1049T>C (p.Ile350Thr)
NM_001378615.1(CC2D2A):c.1091C>G (p.Pro364Arg) rs768618373
NM_001378615.1(CC2D2A):c.1096G>C (p.Val366Leu)
NM_001378615.1(CC2D2A):c.1102A>G (p.Thr368Ala)
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val) rs16892095
NM_001378615.1(CC2D2A):c.1139T>C (p.Leu380Pro)
NM_001378615.1(CC2D2A):c.113G>A (p.Arg38Lys) rs2108970106
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>G (p.Lys40Arg)
NM_001378615.1(CC2D2A):c.1229T>C (p.Ile410Thr)
NM_001378615.1(CC2D2A):c.1247C>T (p.Thr416Ile)
NM_001378615.1(CC2D2A):c.1260T>G (p.Cys420Trp) rs751436798
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.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.1354G>A (p.Asp452Asn) rs1443260159
NM_001378615.1(CC2D2A):c.1360C>T (p.Leu454Phe) rs868776328
NM_001378615.1(CC2D2A):c.1371A>C (p.Leu457Phe)
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.1423G>A (p.Asp475Asn)
NM_001378615.1(CC2D2A):c.1465C>A (p.Arg489=) rs145678228
NM_001378615.1(CC2D2A):c.1466+4A>C
NM_001378615.1(CC2D2A):c.1469A>G (p.Gln490Arg)
NM_001378615.1(CC2D2A):c.1511C>T (p.Thr504Ile) rs1717945434
NM_001378615.1(CC2D2A):c.1526T>C (p.Ile509Thr)
NM_001378615.1(CC2D2A):c.1533A>T (p.Lys511Asn) rs1577354625
NM_001378615.1(CC2D2A):c.1547T>C (p.Met516Thr)
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.1607+6C>A rs2109029936
NM_001378615.1(CC2D2A):c.1608-12del
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.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.1640C>T (p.Ala547Val)
NM_001378615.1(CC2D2A):c.1666A>G (p.Ile556Val)
NM_001378615.1(CC2D2A):c.1670G>C (p.Ser557Thr) rs1479599144
NM_001378615.1(CC2D2A):c.1681G>C (p.Glu561Gln) rs2109034008
NM_001378615.1(CC2D2A):c.1684G>A (p.Glu562Lys)
NM_001378615.1(CC2D2A):c.1691C>A (p.Thr564Lys)
NM_001378615.1(CC2D2A):c.1693GAG[1] (p.Glu566del) rs1718166919
NM_001378615.1(CC2D2A):c.1713G>A (p.Met571Ile) rs886059137
NM_001378615.1(CC2D2A):c.1720T>A (p.Tyr574Asn) rs768277071
NM_001378615.1(CC2D2A):c.1727C>T (p.Thr576Met)
NM_001378615.1(CC2D2A):c.1742G>C (p.Trp581Ser) rs2109034111
NM_001378615.1(CC2D2A):c.1760T>A (p.Val587Glu)
NM_001378615.1(CC2D2A):c.1760T>C (p.Val587Ala)
NM_001378615.1(CC2D2A):c.1773GAA[2] (p.Lys594del) rs886044115
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.1804C>T (p.His602Tyr) rs753430251
NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val) rs747187783
NM_001378615.1(CC2D2A):c.1827G>A (p.Glu609=) rs886059138
NM_001378615.1(CC2D2A):c.1850T>C (p.Val617Ala) rs1718226237
NM_001378615.1(CC2D2A):c.1864C>G (p.Pro622Ala) rs1718227512
NM_001378615.1(CC2D2A):c.1879C>T (p.Arg627Trp)
NM_001378615.1(CC2D2A):c.1891G>C (p.Glu631Gln)
NM_001378615.1(CC2D2A):c.1895A>G (p.Gln632Arg) rs777510836
NM_001378615.1(CC2D2A):c.1910G>C (p.Arg637Thr)
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.1952T>C (p.Val651Ala) rs762298895
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.1978G>A (p.Val660Ile) rs16892134
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001378615.1(CC2D2A):c.2006C>A (p.Ala669Glu) rs953243101
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp) rs763596840
NM_001378615.1(CC2D2A):c.2025G>T (p.Glu675Asp)
NM_001378615.1(CC2D2A):c.2072AGG[1] (p.Glu692del) rs1718395356
NM_001378615.1(CC2D2A):c.209C>T (p.Thr70Ile)
NM_001378615.1(CC2D2A):c.2105G>T (p.Gly702Val)
NM_001378615.1(CC2D2A):c.2107G>A (p.Ala703Thr)
NM_001378615.1(CC2D2A):c.2151A>G (p.Ile717Met)
NM_001378615.1(CC2D2A):c.2170T>A (p.Leu724Ile) rs1718404801
NM_001378615.1(CC2D2A):c.2174C>T (p.Thr725Ile)
NM_001378615.1(CC2D2A):c.2180A>G (p.Gln727Arg) rs2109038955
NM_001378615.1(CC2D2A):c.2182-3C>T rs1560177957
NM_001378615.1(CC2D2A):c.2182-6T>G rs1225693344
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.2251A>C (p.Thr751Pro)
NM_001378615.1(CC2D2A):c.2267G>C (p.Arg756Thr)
NM_001378615.1(CC2D2A):c.2275A>C (p.Thr759Pro) rs1226753536
NM_001378615.1(CC2D2A):c.2283A>C (p.Glu761Asp)
NM_001378615.1(CC2D2A):c.2287G>C (p.Glu763Gln)
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+3A>T
NM_001378615.1(CC2D2A):c.2338+4T>C
NM_001378615.1(CC2D2A):c.2339-10_2339-9del rs886059157
NM_001378615.1(CC2D2A):c.2362G>C (p.Asp788His) rs2109052993
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.2398A>G (p.Lys800Glu)
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.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.2452C>A (p.Pro818Thr) rs1719099728
NM_001378615.1(CC2D2A):c.2456C>A (p.Pro819Gln) rs1719100127
NM_001378615.1(CC2D2A):c.246G>C (p.Arg82=)
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT rs750398145
NM_001378615.1(CC2D2A):c.2482C>T (p.Arg828Trp) rs749997192
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.2487-7_2487-3del
NM_001378615.1(CC2D2A):c.2537C>A (p.Thr846Lys)
NM_001378615.1(CC2D2A):c.2537C>T (p.Thr846Ile)
NM_001378615.1(CC2D2A):c.2542A>G (p.Met848Val) rs376403848
NM_001378615.1(CC2D2A):c.2549A>T (p.Lys850Ile)
NM_001378615.1(CC2D2A):c.2554G>C (p.Ala852Pro) rs2109055415
NM_001378615.1(CC2D2A):c.2567C>A (p.Ala856Glu) rs1719213816
NM_001378615.1(CC2D2A):c.2575A>G (p.Lys859Glu) rs770990150
NM_001378615.1(CC2D2A):c.2605C>T (p.Pro869Ser) rs772863864
NM_001378615.1(CC2D2A):c.2625G>C (p.Ser875=) rs765873247
NM_001378615.1(CC2D2A):c.2637T>G (p.Ser879Arg) rs2109058028
NM_001378615.1(CC2D2A):c.2669T>G (p.Leu890Arg) rs1719341621
NM_001378615.1(CC2D2A):c.2687A>C (p.Glu896Ala) rs1553838206
NM_001378615.1(CC2D2A):c.2708A>G (p.Gln903Arg)
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.2820G>C (p.Lys940Asn)
NM_001378615.1(CC2D2A):c.2829G>T (p.Gln943His)
NM_001378615.1(CC2D2A):c.2837A>G (p.Glu946Gly) rs2109060095
NM_001378615.1(CC2D2A):c.2849G>A (p.Arg950Gln)
NM_001378615.1(CC2D2A):c.2888C>T (p.Thr963Ile)
NM_001378615.1(CC2D2A):c.2899A>G (p.Ile967Val) rs895053103
NM_001378615.1(CC2D2A):c.2912A>G (p.Tyr971Cys)
NM_001378615.1(CC2D2A):c.2927G>C (p.Arg976Thr)
NM_001378615.1(CC2D2A):c.2977G>A (p.Ala993Thr)
NM_001378615.1(CC2D2A):c.2984T>C (p.Met995Thr) rs1719533280
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.3014G>A (p.Ser1005Asn) rs1719535877
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.304G>C (p.Gly102Arg) rs1278804341
NM_001378615.1(CC2D2A):c.3064C>T (p.Arg1022Trp) rs751865030
NM_001378615.1(CC2D2A):c.3079G>T (p.Gly1027Cys)
NM_001378615.1(CC2D2A):c.3083G>A (p.Arg1028Gln)
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.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.3160C>T (p.Pro1054Ser) rs1719718448
NM_001378615.1(CC2D2A):c.3164T>C (p.Val1055Ala) rs2109065394
NM_001378615.1(CC2D2A):c.3178G>T (p.Val1060Leu)
NM_001378615.1(CC2D2A):c.3182+5G>C
NM_001378615.1(CC2D2A):c.3229C>G (p.His1077Asp) rs2109070180
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.3283G>A (p.Gly1095Ser) rs181260724
NM_001378615.1(CC2D2A):c.3283G>T (p.Gly1095Cys)
NM_001378615.1(CC2D2A):c.3288+5G>A rs1719939393
NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His) rs863225169
NM_001378615.1(CC2D2A):c.3289-2del rs774235067
NM_001378615.1(CC2D2A):c.3291_3296del (p.Leu1098_Val1099del) rs1307456757
NM_001378615.1(CC2D2A):c.3295G>A (p.Val1099Ile) rs1349492467
NM_001378615.1(CC2D2A):c.3295G>T (p.Val1099Leu)
NM_001378615.1(CC2D2A):c.3298C>A (p.Arg1100Ser)
NM_001378615.1(CC2D2A):c.3301C>A (p.Pro1101Thr)
NM_001378615.1(CC2D2A):c.3313G>A (p.Val1105Ile)
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.3363C>A (p.Asn1121Lys)
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001378615.1(CC2D2A):c.3368G>C (p.Ser1123Thr)
NM_001378615.1(CC2D2A):c.3398+13T>C rs886059183
NM_001378615.1(CC2D2A):c.3400G>A (p.Ala1134Thr)
NM_001378615.1(CC2D2A):c.3425C>G (p.Ala1142Gly) rs1252635827
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.3447TGT[1] (p.Val1151del)
NM_001378615.1(CC2D2A):c.3483T>G (p.His1161Gln)
NM_001378615.1(CC2D2A):c.3485A>C (p.Asp1162Ala)
NM_001378615.1(CC2D2A):c.3499G>A (p.Asp1167Asn) rs371998498
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.353C>G (p.Ala118Gly)
NM_001378615.1(CC2D2A):c.3548T>A (p.Leu1183Gln) rs2109073973
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.357G>C (p.Leu119Phe)
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.3643A>C (p.Ser1215Arg) rs765661601
NM_001378615.1(CC2D2A):c.3649G>A (p.Glu1217Lys)
NM_001378615.1(CC2D2A):c.3685G>T (p.Val1229Phe)
NM_001378615.1(CC2D2A):c.3689G>A (p.Arg1230Gln) rs778082588
NM_001378615.1(CC2D2A):c.3707_3709dup (p.Ser1236dup) rs1720298896
NM_001378615.1(CC2D2A):c.3725T>C (p.Ile1242Thr)
NM_001378615.1(CC2D2A):c.3764G>A (p.Arg1255Gln)
NM_001378615.1(CC2D2A):c.3779C>T (p.Ser1260Phe) rs759726075
NM_001378615.1(CC2D2A):c.3790G>A (p.Glu1264Lys)
NM_001378615.1(CC2D2A):c.3799C>G (p.Leu1267Val)
NM_001378615.1(CC2D2A):c.3805G>A (p.Ala1269Thr) rs753246574
NM_001378615.1(CC2D2A):c.3814A>G (p.Lys1272Glu)
NM_001378615.1(CC2D2A):c.3856T>C (p.Cys1286Arg) rs1347377004
NM_001378615.1(CC2D2A):c.3873T>G (p.Ile1291Met)
NM_001378615.1(CC2D2A):c.3878T>C (p.Ile1293Thr)
NM_001378615.1(CC2D2A):c.3889_3890delinsCG (p.Thr1297Arg)
NM_001378615.1(CC2D2A):c.3893T>A (p.Val1298Asp) rs386833758
NM_001378615.1(CC2D2A):c.389G>T (p.Arg130Leu) rs778519147
NM_001378615.1(CC2D2A):c.39+6T>A
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.3924C>A (p.Asn1308Lys)
NM_001378615.1(CC2D2A):c.3943A>T (p.Asn1315Tyr)
NM_001378615.1(CC2D2A):c.3953C>G (p.Pro1318Arg)
NM_001378615.1(CC2D2A):c.395G>A (p.Arg132Gln) rs772016081
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.3978A>C (p.Glu1326Asp)
NM_001378615.1(CC2D2A):c.398G>A (p.Ser133Asn)
NM_001378615.1(CC2D2A):c.4001T>C (p.Leu1334Ser) rs1577396363
NM_001378615.1(CC2D2A):c.4015C>T (p.Pro1339Ser) rs781057021
NM_001378615.1(CC2D2A):c.4037G>C (p.Gly1346Ala) rs1720849726
NM_001378615.1(CC2D2A):c.4037G>T (p.Gly1346Val)
NM_001378615.1(CC2D2A):c.4065+6T>C
NM_001378615.1(CC2D2A):c.4066-11_4066-8del
NM_001378615.1(CC2D2A):c.4067A>G (p.Gln1356Arg) rs771460583
NM_001378615.1(CC2D2A):c.4068A>C (p.Gln1356His)
NM_001378615.1(CC2D2A):c.4088G>T (p.Gly1363Val) rs762683334
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.40G>A (p.Glu14Lys)
NM_001378615.1(CC2D2A):c.4126T>C (p.Phe1376Leu)
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.4160T>C (p.Met1387Thr)
NM_001378615.1(CC2D2A):c.4171A>T (p.Ile1391Phe)
NM_001378615.1(CC2D2A):c.4186A>G (p.Thr1396Ala)
NM_001378615.1(CC2D2A):c.4189G>C (p.Ala1397Pro)
NM_001378615.1(CC2D2A):c.4206G>C (p.Trp1402Cys) rs1720998794
NM_001378615.1(CC2D2A):c.4216C>T (p.Arg1406Cys)
NM_001378615.1(CC2D2A):c.4228T>C (p.Trp1410Arg)
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.4273T>C (p.Cys1425Arg)
NM_001378615.1(CC2D2A):c.4315-6_4315-3del rs926806639
NM_001378615.1(CC2D2A):c.4374G>C (p.Arg1458Ser)
NM_001378615.1(CC2D2A):c.438G>A (p.Glu146=) rs1215345163
NM_001378615.1(CC2D2A):c.439-5_492dup
NM_001378615.1(CC2D2A):c.4393T>G (p.Phe1465Val)
NM_001378615.1(CC2D2A):c.4437+4T>C
NM_001378615.1(CC2D2A):c.4437+6A>C
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.4442A>C (p.Glu1481Ala) rs886059185
NM_001378615.1(CC2D2A):c.4460G>T (p.Arg1487Leu)
NM_001378615.1(CC2D2A):c.4465G>C (p.Asp1489His)
NM_001378615.1(CC2D2A):c.4492G>C (p.Asp1498His)
NM_001378615.1(CC2D2A):c.4496+5C>T rs1721369264
NM_001378615.1(CC2D2A):c.4496+6A>G
NM_001378615.1(CC2D2A):c.4506A>C (p.Lys1502Asn)
NM_001378615.1(CC2D2A):c.451G>T (p.Val151Leu) rs1485264498
NM_001378615.1(CC2D2A):c.4522A>C (p.Ile1508Leu)
NM_001378615.1(CC2D2A):c.4544A>G (p.His1515Arg)
NM_001378615.1(CC2D2A):c.4560T>C (p.Asn1520=) rs1721486758
NM_001378615.1(CC2D2A):c.4601T>C (p.Leu1534Ser) rs2148495981
NM_001378615.1(CC2D2A):c.4624G>A (p.Val1542Ile) rs1721490248
NM_001378615.1(CC2D2A):c.4625T>C (p.Val1542Ala)
NM_001378615.1(CC2D2A):c.4654A>C (p.Lys1552Gln) rs2148496033
NM_001378615.1(CC2D2A):c.4666G>C (p.Asp1556His) rs1721493626
NM_001378615.1(CC2D2A):c.4674+6T>C rs1340397034
NM_001378615.1(CC2D2A):c.4679C>T (p.Ser1560Phe)
NM_001378615.1(CC2D2A):c.4688C>T (p.Pro1563Leu) rs886059186
NM_001378615.1(CC2D2A):c.4690C>T (p.Leu1564Phe) rs1441082551
NM_001378615.1(CC2D2A):c.4699C>T (p.Pro1567Ser) rs2148497378
NM_001378615.1(CC2D2A):c.4705T>G (p.Ser1569Ala)
NM_001378615.1(CC2D2A):c.4718C>T (p.Pro1573Leu)
NM_001378615.1(CC2D2A):c.4733T>C (p.Val1578Ala) rs2148497423
NM_001378615.1(CC2D2A):c.4736A>G (p.Tyr1579Cys)
NM_001378615.1(CC2D2A):c.4746_4747dup (p.Val1583fs) rs1721586115
NM_001378615.1(CC2D2A):c.4757T>A (p.Ile1586Asn)
NM_001378615.1(CC2D2A):c.4808C>G (p.Pro1603Arg) rs2148497490
NM_001378615.1(CC2D2A):c.4819_4820del (p.Leu1607fs)
NM_001378615.1(CC2D2A):c.4835A>G (p.Tyr1612Cys) rs368070611
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.4852C>A (p.Arg1618Ser) rs201219078
NM_001378615.1(CC2D2A):c.4852C>G (p.Arg1618Gly)
NM_001378615.1(CC2D2A):c.494G>A (p.Arg165Lys) rs911542623
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.540+4A>G
NM_001378615.1(CC2D2A):c.540+5G>C
NM_001378615.1(CC2D2A):c.541-3T>A
NM_001378615.1(CC2D2A):c.541-9T>A rs1434091819
NM_001378615.1(CC2D2A):c.556C>G (p.Pro186Ala)
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.635C>A (p.Ala212Glu)
NM_001378615.1(CC2D2A):c.644G>C (p.Arg215Thr)
NM_001378615.1(CC2D2A):c.646G>C (p.Ala216Pro)
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.676G>A (p.Glu226Lys) rs1716561509
NM_001378615.1(CC2D2A):c.708A>T (p.Gly236=) rs1716563559
NM_001378615.1(CC2D2A):c.733C>T (p.Leu245Phe)
NM_001378615.1(CC2D2A):c.740G>T (p.Gly247Val)
NM_001378615.1(CC2D2A):c.757T>C (p.Phe253Leu)
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
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.811G>A (p.Asp271Asn)
NM_001378615.1(CC2D2A):c.857T>A (p.Leu286His)
NM_001378615.1(CC2D2A):c.865C>T (p.Pro289Ser) rs371405756
NM_001378615.1(CC2D2A):c.889T>C (p.Tyr297His) rs2109012755
NM_001378615.1(CC2D2A):c.906G>A (p.Glu302=)
NM_001378615.1(CC2D2A):c.907A>T (p.Asn303Tyr)
NM_001378615.1(CC2D2A):c.918C>T (p.Pro306=)
NM_001378615.1(CC2D2A):c.967G>A (p.Ala323Thr)
NM_001378615.1(CC2D2A):c.968C>T (p.Ala323Val) rs2109012891
NM_001378615.1(CC2D2A):c.989T>C (p.Met330Thr) rs1553826997
NM_001378615.1(CC2D2A):c.991G>A (p.Glu331Lys) rs954758606

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