ClinVar Miner

List of variants in gene CC2D2A reported as uncertain significance for Joubert syndrome; Meckel-Gruber syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 526
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078 0.00023
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly) rs747204358 0.00021
NM_001378615.1(CC2D2A):c.3368G>A (p.Ser1123Asn) rs377404804 0.00015
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.3014+4A>C rs748451478 0.00013
NM_001378615.1(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573 0.00011
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.2437G>A (p.Gly813Arg) rs375167917 0.00009
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu) rs200904521 0.00009
NM_001378615.1(CC2D2A):c.1466+3G>A rs574767203 0.00007
NM_001378615.1(CC2D2A):c.1766G>A (p.Arg589Lys) rs763477416 0.00007
NM_001378615.1(CC2D2A):c.379C>T (p.Arg127Trp) rs145945939 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.1645G>A (p.Glu549Lys) rs368788560 0.00006
NM_001378615.1(CC2D2A):c.2542A>C (p.Met848Leu) rs376403848 0.00006
NM_001378615.1(CC2D2A):c.308G>A (p.Arg103His) rs566281691 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.1553C>A (p.Ser518Tyr) rs375633207 0.00005
NM_001378615.1(CC2D2A):c.157G>A (p.Glu53Lys) rs373080748 0.00005
NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu) rs200034384 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.2101C>G (p.Leu701Val) rs537906621 0.00004
NM_001378615.1(CC2D2A):c.2162C>T (p.Pro721Leu) rs533830027 0.00004
NM_001378615.1(CC2D2A):c.2181+6C>T rs997637353 0.00004
NM_001378615.1(CC2D2A):c.2912A>G (p.Tyr971Cys) rs548727534 0.00004
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln) rs770896540 0.00004
NM_001378615.1(CC2D2A):c.3640T>C (p.Tyr1214His) rs759970546 0.00004
NM_001378615.1(CC2D2A):c.4186A>G (p.Thr1396Ala) rs759303901 0.00004
NM_001378615.1(CC2D2A):c.4747G>A (p.Val1583Ile) rs371196379 0.00004
NM_001378615.1(CC2D2A):c.4766C>G (p.Pro1589Arg) rs374301736 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.1247C>T (p.Thr416Ile) rs898835616 0.00003
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val) rs775138548 0.00003
NM_001378615.1(CC2D2A):c.1426A>G (p.Thr476Ala) rs777726035 0.00003
NM_001378615.1(CC2D2A):c.2141A>G (p.Asn714Ser) rs771224275 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.2537C>T (p.Thr846Ile) rs534682728 0.00003
NM_001378615.1(CC2D2A):c.2708A>G (p.Gln903Arg) rs763984077 0.00003
NM_001378615.1(CC2D2A):c.2734A>G (p.Arg912Gly) rs574421639 0.00003
NM_001378615.1(CC2D2A):c.2885A>G (p.Asp962Gly) rs201631131 0.00003
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu) rs370014549 0.00003
NM_001378615.1(CC2D2A):c.3083G>A (p.Arg1028Gln) rs775439922 0.00003
NM_001378615.1(CC2D2A):c.3313G>A (p.Val1105Ile) rs976493925 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.4340A>C (p.Glu1447Ala) rs387907058 0.00003
NM_001378615.1(CC2D2A):c.4345C>G (p.Pro1449Ala) rs375410796 0.00003
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg) rs587779732 0.00003
NM_001378615.1(CC2D2A):c.4506A>C (p.Lys1502Asn) rs201316005 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.541G>A (p.Val181Ile) rs745646755 0.00003
NM_001378615.1(CC2D2A):c.646G>C (p.Ala216Pro) rs539372200 0.00003
NM_001378615.1(CC2D2A):c.778G>A (p.Val260Met) rs918403472 0.00003
NM_001378615.1(CC2D2A):c.1017C>T (p.Pro339=) rs777522814 0.00002
NM_001378615.1(CC2D2A):c.1042G>A (p.Gly348Ser) rs753091095 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.1451A>G (p.Tyr484Cys) rs746279803 0.00002
NM_001378615.1(CC2D2A):c.166C>T (p.His56Tyr) rs758324715 0.00002
NM_001378615.1(CC2D2A):c.1684G>A (p.Glu562Lys) rs1008514114 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.2174C>T (p.Thr725Ile) rs1214512907 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.2736G>C (p.Arg912Ser) rs1471618183 0.00002
NM_001378615.1(CC2D2A):c.2820G>C (p.Lys940Asn) rs762973984 0.00002
NM_001378615.1(CC2D2A):c.2842C>T (p.Arg948Trp) rs563295435 0.00002
NM_001378615.1(CC2D2A):c.2849G>A (p.Arg950Gln) rs769392158 0.00002
NM_001378615.1(CC2D2A):c.3082C>T (p.Arg1028Trp) rs770004990 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.3596T>C (p.Ile1199Thr) rs760918829 0.00002
NM_001378615.1(CC2D2A):c.3773T>C (p.Phe1258Ser) rs1485903880 0.00002
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser) rs745599580 0.00002
NM_001378615.1(CC2D2A):c.4126T>C (p.Phe1376Leu) rs921854876 0.00002
NM_001378615.1(CC2D2A):c.4241G>A (p.Ser1414Asn) rs747781887 0.00002
NM_001378615.1(CC2D2A):c.4544A>G (p.His1515Arg) rs371944691 0.00002
NM_001378615.1(CC2D2A):c.4635C>A (p.Asp1545Glu) rs776642347 0.00002
NM_001378615.1(CC2D2A):c.4838T>C (p.Val1613Ala) rs769264337 0.00002
NM_001378615.1(CC2D2A):c.56A>T (p.Asp19Val) rs1403239059 0.00002
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.1049T>C (p.Ile350Thr) rs534516025 0.00001
NM_001378615.1(CC2D2A):c.1091C>T (p.Pro364Leu) rs768618373 0.00001
NM_001378615.1(CC2D2A):c.1139T>C (p.Leu380Pro) rs1160020796 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.1229T>C (p.Ile410Thr) rs1477642319 0.00001
NM_001378615.1(CC2D2A):c.1307A>T (p.Asp436Val) rs180987891 0.00001
NM_001378615.1(CC2D2A):c.130A>G (p.Thr44Ala) rs1195835630 0.00001
NM_001378615.1(CC2D2A):c.1312T>C (p.Tyr438His) rs940437696 0.00001
NM_001378615.1(CC2D2A):c.1371A>C (p.Leu457Phe) rs989319751 0.00001
NM_001378615.1(CC2D2A):c.1409C>G (p.Pro470Arg) rs370978967 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.1526T>C (p.Ile509Thr) rs1270428820 0.00001
NM_001378615.1(CC2D2A):c.152T>C (p.Val51Ala) rs375163284 0.00001
NM_001378615.1(CC2D2A):c.1565T>C (p.Phe522Ser) rs1303592909 0.00001
NM_001378615.1(CC2D2A):c.1666A>G (p.Ile556Val) rs1428654313 0.00001
NM_001378615.1(CC2D2A):c.1672G>A (p.Glu558Lys) rs766924214 0.00001
NM_001378615.1(CC2D2A):c.1760T>C (p.Val587Ala) rs753143836 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.179C>T (p.Pro60Leu) rs566035797 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.1879C>T (p.Arg627Trp) rs778295396 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.209C>T (p.Thr70Ile) rs1714588071 0.00001
NM_001378615.1(CC2D2A):c.2105G>T (p.Gly702Val) rs1490843228 0.00001
NM_001378615.1(CC2D2A):c.2133G>C (p.Gln711His) rs886059139 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.2283A>C (p.Glu761Asp) rs1325342502 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.2398A>G (p.Lys800Glu) rs751256652 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+5T>A rs780106193 0.00001
NM_001378615.1(CC2D2A):c.2534T>C (p.Leu845Pro) rs1481526699 0.00001
NM_001378615.1(CC2D2A):c.2549A>T (p.Lys850Ile) rs1029391409 0.00001
NM_001378615.1(CC2D2A):c.2575A>G (p.Lys859Glu) rs770990150 0.00001
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp) rs541135799 0.00001
NM_001378615.1(CC2D2A):c.2641G>C (p.Glu881Gln) rs760405029 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.2829G>T (p.Gln943His) rs1252162934 0.00001
NM_001378615.1(CC2D2A):c.2891A>G (p.His964Arg) rs1273769297 0.00001
NM_001378615.1(CC2D2A):c.2899A>G (p.Ile967Val) rs895053103 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.3017T>A (p.Ile1006Asn) rs754619415 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.3122T>G (p.Ile1041Arg) rs549484261 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.3199T>C (p.Ser1067Pro) rs781259863 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.3288G>C (p.Gln1096His) rs863225169 0.00001
NM_001378615.1(CC2D2A):c.3363C>A (p.Asn1121Lys) rs1260226165 0.00001
NM_001378615.1(CC2D2A):c.3374A>G (p.Asn1125Ser) rs746358327 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.3445G>A (p.Asp1149Asn) rs1253546417 0.00001
NM_001378615.1(CC2D2A):c.3458T>C (p.Ile1153Thr) rs1410133502 0.00001
NM_001378615.1(CC2D2A):c.3485A>C (p.Asp1162Ala) rs370866477 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.3530G>A (p.Arg1177His) rs1409338849 0.00001
NM_001378615.1(CC2D2A):c.3533T>C (p.Ile1178Thr) rs376674451 0.00001
NM_001378615.1(CC2D2A):c.3562A>G (p.Met1188Val) rs755471448 0.00001
NM_001378615.1(CC2D2A):c.3565C>T (p.Pro1189Ser) rs779268374 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.3764G>A (p.Arg1255Gln) rs748766572 0.00001
NM_001378615.1(CC2D2A):c.3814A>G (p.Lys1272Glu) rs764468499 0.00001
NM_001378615.1(CC2D2A):c.383C>T (p.Pro128Leu) rs768439693 0.00001
NM_001378615.1(CC2D2A):c.3943A>T (p.Asn1315Tyr) rs1297986816 0.00001
NM_001378615.1(CC2D2A):c.4037G>T (p.Gly1346Val) rs1720849726 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.4240A>G (p.Ser1414Gly) rs997057154 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.4437+4T>C rs1721315345 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.4675-1G>C rs764806176 0.00001
NM_001378615.1(CC2D2A):c.4679C>T (p.Ser1560Phe) rs1420190280 0.00001
NM_001378615.1(CC2D2A):c.4697T>C (p.Met1566Thr) rs762773515 0.00001
NM_001378615.1(CC2D2A):c.4724T>C (p.Ile1575Thr) rs551243983 0.00001
NM_001378615.1(CC2D2A):c.4736A>G (p.Tyr1579Cys) rs2148497426 0.00001
NM_001378615.1(CC2D2A):c.4759G>T (p.Asp1587Tyr) rs1378734767 0.00001
NM_001378615.1(CC2D2A):c.540+4A>G rs1483884923 0.00001
NM_001378615.1(CC2D2A):c.55G>C (p.Asp19His) rs755345164 0.00001
NM_001378615.1(CC2D2A):c.566A>G (p.Glu189Gly) rs762024789 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.596T>C (p.Phe199Ser) rs1326820815 0.00001
NM_001378615.1(CC2D2A):c.634G>C (p.Ala212Pro) rs965986708 0.00001
NM_001378615.1(CC2D2A):c.644G>C (p.Arg215Thr) rs756061892 0.00001
NM_001378615.1(CC2D2A):c.664G>A (p.Glu222Lys) rs2109007768 0.00001
NM_001378615.1(CC2D2A):c.695C>A (p.Ala232Glu) rs779245267 0.00001
NM_001378615.1(CC2D2A):c.733C>T (p.Leu245Phe) rs777249531 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.823A>G (p.Ile275Val) rs368471984 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.906G>A (p.Glu302=) rs1003015820 0.00001
NM_001378615.1(CC2D2A):c.907A>T (p.Asn303Tyr) rs1716839646 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.967G>A (p.Ala323Thr) rs1480722039 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.1017+3A>G rs1197590217
NM_001378615.1(CC2D2A):c.1017+5G>A rs2109012967
NM_001378615.1(CC2D2A):c.1091C>G (p.Pro364Arg) rs768618373
NM_001378615.1(CC2D2A):c.1096G>C (p.Val366Leu) rs1716895298
NM_001378615.1(CC2D2A):c.1102A>G (p.Thr368Ala) rs1050434384
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val) rs16892095
NM_001378615.1(CC2D2A):c.113G>A (p.Arg38Lys) rs2108970106
NM_001378615.1(CC2D2A):c.1190C>T (p.Ser397Phe) rs1318226093
NM_001378615.1(CC2D2A):c.1196A>C (p.Asp399Ala) rs2109024009
NM_001378615.1(CC2D2A):c.119A>G (p.Lys40Arg) rs780010340
NM_001378615.1(CC2D2A):c.123+5G>C
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.1326C>A (p.His442Gln) rs1284018435
NM_001378615.1(CC2D2A):c.1331G>A (p.Arg444Lys) rs761152992
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.1393C>T (p.Leu465Phe) rs2474955046
NM_001378615.1(CC2D2A):c.1421T>C (p.Leu474Pro) rs1717642391
NM_001378615.1(CC2D2A):c.1423G>A (p.Asp475Asn) rs779330548
NM_001378615.1(CC2D2A):c.1465C>A (p.Arg489=) rs145678228
NM_001378615.1(CC2D2A):c.1466+4A>C rs2474955295
NM_001378615.1(CC2D2A):c.1469A>G (p.Gln490Arg) rs1360208683
NM_001378615.1(CC2D2A):c.1503_1505del (p.Lys501_Asp502delinsAsn) rs863225177
NM_001378615.1(CC2D2A):c.1511C>T (p.Thr504Ile) rs1717945434
NM_001378615.1(CC2D2A):c.1533A>T (p.Lys511Asn) rs1577354625
NM_001378615.1(CC2D2A):c.1547T>C (p.Met516Thr) rs2474965471
NM_001378615.1(CC2D2A):c.1561G>C (p.Glu521Gln) rs756638247
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 rs2474974346
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) rs1553832449
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) rs2474974616
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.1691C>A (p.Thr564Lys) rs201954181
NM_001378615.1(CC2D2A):c.1693GAG[1] (p.Glu566del) rs1718166919
NM_001378615.1(CC2D2A):c.1720T>A (p.Tyr574Asn) rs768277071
NM_001378615.1(CC2D2A):c.1727C>T (p.Thr576Met) rs767766478
NM_001378615.1(CC2D2A):c.1742G>C (p.Trp581Ser) rs2109034111
NM_001378615.1(CC2D2A):c.1760T>A (p.Val587Glu) rs753143836
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.1804C>T (p.His602Tyr) rs753430251
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.1891G>C (p.Glu631Gln) rs2474978927
NM_001378615.1(CC2D2A):c.1895A>G (p.Gln632Arg) rs777510836
NM_001378615.1(CC2D2A):c.1910G>C (p.Arg637Thr) rs561944265
NM_001378615.1(CC2D2A):c.1952T>C (p.Val651Ala) rs762298895
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.2006C>A (p.Ala669Glu) rs953243101
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp) rs763596840
NM_001378615.1(CC2D2A):c.2025G>T (p.Glu675Asp) rs756383263
NM_001378615.1(CC2D2A):c.2072AGG[1] (p.Glu692del) rs1718395356
NM_001378615.1(CC2D2A):c.2107G>A (p.Ala703Thr) rs1718399406
NM_001378615.1(CC2D2A):c.2151A>G (p.Ile717Met) rs2474988551
NM_001378615.1(CC2D2A):c.2170T>A (p.Leu724Ile) rs1718404801
NM_001378615.1(CC2D2A):c.2180A>G (p.Gln727Arg) rs2109038955
NM_001378615.1(CC2D2A):c.2182-3C>T rs1560177957
NM_001378615.1(CC2D2A):c.2203A>T (p.Ser735Cys) rs781504375
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) rs942868342
NM_001378615.1(CC2D2A):c.2267G>C (p.Arg756Thr) rs772804576
NM_001378615.1(CC2D2A):c.2275A>C (p.Thr759Pro) rs1226753536
NM_001378615.1(CC2D2A):c.2287G>C (p.Glu763Gln) rs2475019568
NM_001378615.1(CC2D2A):c.232C>T (p.Arg78Trp) rs769077754
NM_001378615.1(CC2D2A):c.2336G>A (p.Ser779Asn) rs2109050322
NM_001378615.1(CC2D2A):c.2338+3A>T rs2475019896
NM_001378615.1(CC2D2A):c.2338+4T>C rs2475019908
NM_001378615.1(CC2D2A):c.2362G>C (p.Asp788His) rs2109052993
NM_001378615.1(CC2D2A):c.2378T>G (p.Leu793Arg) rs2475026055
NM_001378615.1(CC2D2A):c.2380A>T (p.Thr794Ser) rs2475026062
NM_001378615.1(CC2D2A):c.2387T>C (p.Met796Thr) rs367560550
NM_001378615.1(CC2D2A):c.2410A>T (p.Ser804Cys) rs745751160
NM_001378615.1(CC2D2A):c.2411G>A (p.Ser804Asn) rs2475026219
NM_001378615.1(CC2D2A):c.2414T>C (p.Val805Ala) rs2475026233
NM_001378615.1(CC2D2A):c.241C>G (p.Pro81Ala) rs2474831164
NM_001378615.1(CC2D2A):c.2425A>G (p.Ile809Val) rs1719097213
NM_001378615.1(CC2D2A):c.2440A>G (p.Ile814Val) rs1719098708
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=) rs759135400
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.2487-3C>T rs2475032934
NM_001378615.1(CC2D2A):c.2487-7_2487-3del rs769454642
NM_001378615.1(CC2D2A):c.2537C>A (p.Thr846Lys) rs534682728
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.2605C>A (p.Pro869Thr) rs772863864
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.2729G>A (p.Arg910Gln) rs1444040844
NM_001378615.1(CC2D2A):c.2737C>T (p.Leu913Phe) rs1049058446
NM_001378615.1(CC2D2A):c.2751A>C (p.Arg917Ser) rs1457105326
NM_001378615.1(CC2D2A):c.2752A>G (p.Ser918Gly) rs2109058193
NM_001378615.1(CC2D2A):c.2837A>G (p.Glu946Gly) rs2109060095
NM_001378615.1(CC2D2A):c.2888C>T (p.Thr963Ile) rs774214294
NM_001378615.1(CC2D2A):c.2927G>C (p.Arg976Thr) rs1327730952
NM_001378615.1(CC2D2A):c.2977G>A (p.Ala993Thr) rs2475051617
NM_001378615.1(CC2D2A):c.2984T>C (p.Met995Thr) rs1719533280
NM_001378615.1(CC2D2A):c.3014G>A (p.Ser1005Asn) rs1719535877
NM_001378615.1(CC2D2A):c.3015-8A>G rs2109065118
NM_001378615.1(CC2D2A):c.3026T>C (p.Leu1009Pro) rs2475061477
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) rs1366543476
NM_001378615.1(CC2D2A):c.3104A>T (p.Asn1035Ile) rs2109065297
NM_001378615.1(CC2D2A):c.311T>C (p.Met104Thr) rs2108998358
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) rs2475062101
NM_001378615.1(CC2D2A):c.3157A>C (p.Ile1053Leu) rs148194457
NM_001378615.1(CC2D2A):c.3159T>G (p.Ile1053Met) rs1719718344
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.3175G>A (p.Ala1059Thr)
NM_001378615.1(CC2D2A):c.3178G>T (p.Val1060Leu) rs1392310906
NM_001378615.1(CC2D2A):c.3182+5G>C rs1329797830
NM_001378615.1(CC2D2A):c.3229C>G (p.His1077Asp) rs2109070180
NM_001378615.1(CC2D2A):c.3230A>G (p.His1077Arg) rs1719934080
NM_001378615.1(CC2D2A):c.3233C>T (p.Ala1078Val) rs1437673943
NM_001378615.1(CC2D2A):c.3236C>T (p.Ala1079Val) rs2475073495
NM_001378615.1(CC2D2A):c.3283G>A (p.Gly1095Ser) rs181260724
NM_001378615.1(CC2D2A):c.3283G>T (p.Gly1095Cys) rs181260724
NM_001378615.1(CC2D2A):c.3288+5G>A rs1719939393
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) rs1349492467
NM_001378615.1(CC2D2A):c.3298C>A (p.Arg1100Ser) rs767086890
NM_001378615.1(CC2D2A):c.3299G>A (p.Arg1100His)
NM_001378615.1(CC2D2A):c.3334T>G (p.Cys1112Gly) rs754824046
NM_001378615.1(CC2D2A):c.3368G>C (p.Ser1123Thr) rs377404804
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.3447T>A (p.Asp1149Glu) rs772795748
NM_001378615.1(CC2D2A):c.3447TGT[1] (p.Val1151del) rs1453331743
NM_001378615.1(CC2D2A):c.3483T>G (p.His1161Gln) rs1362950111
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.353C>G (p.Ala118Gly) rs2474890222
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.357G>C (p.Leu119Phe) rs767331450
NM_001378615.1(CC2D2A):c.3605C>T (p.Thr1202Ile) rs1396865543
NM_001378615.1(CC2D2A):c.3616G>T (p.Asp1206Tyr) rs1328396456
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) rs2475092958
NM_001378615.1(CC2D2A):c.3668A>G (p.Glu1223Gly)
NM_001378615.1(CC2D2A):c.3685G>T (p.Val1229Phe) rs2475093147
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) rs1419978989
NM_001378615.1(CC2D2A):c.3779C>T (p.Ser1260Phe) rs759726075
NM_001378615.1(CC2D2A):c.3790G>A (p.Glu1264Lys) rs1341597443
NM_001378615.1(CC2D2A):c.3799C>G (p.Leu1267Val) rs1720588236
NM_001378615.1(CC2D2A):c.3805G>A (p.Ala1269Thr) rs753246574
NM_001378615.1(CC2D2A):c.3856T>C (p.Cys1286Arg) rs1347377004
NM_001378615.1(CC2D2A):c.3873T>G (p.Ile1291Met) rs200269652
NM_001378615.1(CC2D2A):c.3878T>C (p.Ile1293Thr) rs769895608
NM_001378615.1(CC2D2A):c.3889_3890delinsCG (p.Thr1297Arg) rs2475106259
NM_001378615.1(CC2D2A):c.3893T>A (p.Val1298Asp) rs386833758
NM_001378615.1(CC2D2A):c.39+6T>A rs2474814533
NM_001378615.1(CC2D2A):c.3902C>T (p.Thr1301Ile) rs2475106319
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) rs762297266
NM_001378615.1(CC2D2A):c.3953C>G (p.Pro1318Arg) rs1720596967
NM_001378615.1(CC2D2A):c.395G>A (p.Arg132Gln) rs772016081
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) rs1166361679
NM_001378615.1(CC2D2A):c.398G>A (p.Ser133Asn) rs1716041889
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.4048C>T (p.Leu1350Phe) rs780313255
NM_001378615.1(CC2D2A):c.4065+6T>C rs2475119906
NM_001378615.1(CC2D2A):c.4066-11_4066-8del rs2475123776
NM_001378615.1(CC2D2A):c.4067A>G (p.Gln1356Arg) rs771460583
NM_001378615.1(CC2D2A):c.4068A>C (p.Gln1356His) rs1234481040
NM_001378615.1(CC2D2A):c.4090G>A (p.Asp1364Asn) rs768130176
NM_001378615.1(CC2D2A):c.40G>A (p.Glu14Lys) rs1714405580
NM_001378615.1(CC2D2A):c.4109T>C (p.Val1370Ala)
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) rs2475124035
NM_001378615.1(CC2D2A):c.4160T>C (p.Met1387Thr) rs2109090368
NM_001378615.1(CC2D2A):c.4171A>T (p.Ile1391Phe) rs1396122330
NM_001378615.1(CC2D2A):c.4189G>C (p.Ala1397Pro) rs2475127687
NM_001378615.1(CC2D2A):c.4206G>C (p.Trp1402Cys) rs1720998794
NM_001378615.1(CC2D2A):c.4216C>T (p.Arg1406Cys) rs781779336
NM_001378615.1(CC2D2A):c.4228T>C (p.Trp1410Arg) rs1046227785
NM_001378615.1(CC2D2A):c.4233T>A (p.Asn1411Lys) rs1721000269
NM_001378615.1(CC2D2A):c.4234C>T (p.Pro1412Ser) rs2475127895
NM_001378615.1(CC2D2A):c.4244G>T (p.Gly1415Val) rs771657471
NM_001378615.1(CC2D2A):c.4246C>A (p.His1416Asn) rs772711096
NM_001378615.1(CC2D2A):c.4273T>C (p.Cys1425Arg) rs2475128017
NM_001378615.1(CC2D2A):c.4315-6_4315-3del rs926806639
NM_001378615.1(CC2D2A):c.4374G>C (p.Arg1458Ser) rs945686996
NM_001378615.1(CC2D2A):c.438G>A (p.Glu146=) rs1215345163
NM_001378615.1(CC2D2A):c.439-5_492dup rs2474908935
NM_001378615.1(CC2D2A):c.4393T>G (p.Phe1465Val) rs2475144386
NM_001378615.1(CC2D2A):c.4437+6A>C rs2475144578
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.4460G>T (p.Arg1487Leu) rs971832306
NM_001378615.1(CC2D2A):c.4465G>C (p.Asp1489His) rs1338289178
NM_001378615.1(CC2D2A):c.4492G>C (p.Asp1498His) rs2475148202
NM_001378615.1(CC2D2A):c.4496+5C>T rs1721369264
NM_001378615.1(CC2D2A):c.4496+6A>G rs1721369415
NM_001378615.1(CC2D2A):c.4522A>C (p.Ile1508Leu) rs1721482881
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) rs1721490418
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.4690C>T (p.Leu1564Phe) rs1441082551
NM_001378615.1(CC2D2A):c.4699C>T (p.Pro1567Ser) rs2148497378
NM_001378615.1(CC2D2A):c.4705T>G (p.Ser1569Ala) rs2475163021
NM_001378615.1(CC2D2A):c.4718C>T (p.Pro1573Leu) rs1721583139
NM_001378615.1(CC2D2A):c.4733T>C (p.Val1578Ala) rs2148497423
NM_001378615.1(CC2D2A):c.4746_4747dup (p.Val1583fs) rs1721586115
NM_001378615.1(CC2D2A):c.4757T>A (p.Ile1586Asn) rs764003107
NM_001378615.1(CC2D2A):c.4784T>C (p.Leu1595Ser)
NM_001378615.1(CC2D2A):c.4808C>G (p.Pro1603Arg) rs2148497490
NM_001378615.1(CC2D2A):c.4819_4820del (p.Leu1607fs) rs1305782805
NM_001378615.1(CC2D2A):c.4835A>G (p.Tyr1612Cys) rs368070611
NM_001378615.1(CC2D2A):c.483A>C (p.Gln161His) rs1716489206
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs) rs863225175
NM_001378615.1(CC2D2A):c.4847T>A (p.Leu1616His) rs2475163699
NM_001378615.1(CC2D2A):c.4852C>A (p.Arg1618Ser) rs201219078
NM_001378615.1(CC2D2A):c.4852C>G (p.Arg1618Gly) rs201219078
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+5G>C rs2474909430
NM_001378615.1(CC2D2A):c.541-3T>A rs2474911900
NM_001378615.1(CC2D2A):c.541-9T>A rs1434091819
NM_001378615.1(CC2D2A):c.556C>G (p.Pro186Ala) rs1450223928
NM_001378615.1(CC2D2A):c.574T>A (p.Tyr192Asn) rs1420064778
NM_001378615.1(CC2D2A):c.58G>A (p.Glu20Lys) rs1714407144
NM_001378615.1(CC2D2A):c.5A>G (p.Asn2Ser) rs1210307395
NM_001378615.1(CC2D2A):c.602C>G (p.Pro201Arg) rs1560157734
NM_001378615.1(CC2D2A):c.635C>A (p.Ala212Glu) rs1577336727
NM_001378615.1(CC2D2A):c.663GGA[2] (p.Glu224del) rs1553825978
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.717+4T>C
NM_001378615.1(CC2D2A):c.757T>C (p.Phe253Leu) rs2474920990
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) rs757419793
NM_001378615.1(CC2D2A):c.857T>A (p.Leu286His) rs776020343
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.918C>T (p.Pro306=) rs1716840860
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

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.