ClinVar Miner

List of variants in gene CCDC88C reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 965
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HGVS dbSNP gnomAD frequency
NM_001080414.4(CCDC88C):c.5980C>G (p.Arg1994Gly) rs45560241 0.00650
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500 0.00494
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465 0.00451
NM_001080414.4(CCDC88C):c.912C>T (p.Asp304=) rs61736349 0.00446
NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys) rs142539336 0.00436
NM_001080414.4(CCDC88C):c.4265C>T (p.Ser1422Leu) rs202217944 0.00330
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=) rs146028766 0.00326
NM_001080414.4(CCDC88C):c.891+8G>A rs11851272 0.00323
NM_001080414.4(CCDC88C):c.766C>T (p.Leu256=) rs183742506 0.00293
NM_001080414.4(CCDC88C):c.4707G>A (p.Arg1569=) rs145210051 0.00218
NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg) rs200543687 0.00216
NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro) rs77154172 0.00212
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=) rs200979954 0.00175
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile) rs142295786 0.00150
NM_001080414.4(CCDC88C):c.5296G>A (p.Val1766Met) rs201931182 0.00138
NM_001080414.4(CCDC88C):c.4327G>A (p.Ala1443Thr) rs189215037 0.00133
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser) rs201044013 0.00125
NM_001080414.4(CCDC88C):c.3260A>G (p.Asn1087Ser) rs143691366 0.00113
NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly) rs61743881 0.00107
NM_001080414.4(CCDC88C):c.1878G>C (p.Lys626Asn) rs78468999 0.00105
NM_001080414.4(CCDC88C):c.1527+8G>A rs151228192 0.00084
NM_001080414.4(CCDC88C):c.3640G>A (p.Gly1214Ser) rs183646530 0.00079
NM_001080414.4(CCDC88C):c.5906C>T (p.Pro1969Leu) rs138924295 0.00075
NM_001080414.4(CCDC88C):c.534C>T (p.Pro178=) rs371212105 0.00071
NM_001080414.4(CCDC88C):c.4768+6T>C rs183312399 0.00068
NM_001080414.4(CCDC88C):c.2370C>T (p.Gly790=) rs200603686 0.00056
NM_001080414.4(CCDC88C):c.400-5C>T rs370643702 0.00056
NM_001080414.4(CCDC88C):c.5381C>G (p.Pro1794Arg) rs200077683 0.00055
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) rs200769097 0.00053
NM_001080414.4(CCDC88C):c.271-9T>C rs200240362 0.00039
NM_001080414.4(CCDC88C):c.987G>A (p.Glu329=) rs139506400 0.00037
NM_001080414.4(CCDC88C):c.4375G>A (p.Asp1459Asn) rs78570354 0.00035
NM_001080414.4(CCDC88C):c.4173A>G (p.Gln1391=) rs150323220 0.00032
NM_001080414.4(CCDC88C):c.5934G>A (p.Pro1978=) rs200816634 0.00030
NM_001080414.4(CCDC88C):c.273A>G (p.Glu91=) rs199846951 0.00024
NM_001080414.4(CCDC88C):c.2181G>A (p.Glu727=) rs201609345 0.00021
NM_001080414.4(CCDC88C):c.6024T>C (p.Ser2008=) rs372767405 0.00021
NM_001080414.4(CCDC88C):c.702C>T (p.Ala234=) rs188457701 0.00021
NM_001080414.4(CCDC88C):c.4852C>T (p.Arg1618Trp) rs573820836 0.00019
NM_001080414.4(CCDC88C):c.1962G>A (p.Leu654=) rs61746076 0.00018
NM_001080414.4(CCDC88C):c.2289C>T (p.Ser763=) rs371690660 0.00018
NM_001080414.4(CCDC88C):c.1374C>T (p.Asn458=) rs373669989 0.00016
NM_001080414.4(CCDC88C):c.3474G>A (p.Glu1158=) rs369409841 0.00016
NM_001080414.4(CCDC88C):c.1050+9C>T rs372411289 0.00015
NM_001080414.4(CCDC88C):c.3663G>A (p.Ala1221=) rs368871964 0.00013
NM_001080414.4(CCDC88C):c.3129C>T (p.Pro1043=) rs371072936 0.00011
NM_001080414.4(CCDC88C):c.3779+9C>T rs774262235 0.00011
NM_001080414.4(CCDC88C):c.4377C>T (p.Asp1459=) rs377506651 0.00011
NM_001080414.4(CCDC88C):c.4412G>A (p.Arg1471His) rs201606038 0.00011
NM_001080414.4(CCDC88C):c.5112C>T (p.Ser1704=) rs199730476 0.00011
NM_001080414.4(CCDC88C):c.5331G>C (p.Leu1777=) rs759310053 0.00011
NM_001080414.4(CCDC88C):c.3249G>A (p.Leu1083=) rs374855208 0.00009
NM_001080414.4(CCDC88C):c.4383C>G (p.Pro1461=) rs374856540 0.00008
NM_001080414.4(CCDC88C):c.2118C>T (p.Asn706=) rs374280851 0.00007
NM_001080414.4(CCDC88C):c.3357+6C>T rs141300137 0.00007
NM_001080414.4(CCDC88C):c.6043G>A (p.Gly2015Ser) rs367905673 0.00007
NM_001080414.4(CCDC88C):c.1666-5C>T rs776976640 0.00006
NM_001080414.4(CCDC88C):c.1680G>A (p.Glu560=) rs186738597 0.00006
NM_001080414.4(CCDC88C):c.3028C>T (p.Leu1010Phe) rs201763869 0.00006
NM_001080414.4(CCDC88C):c.3345C>T (p.Thr1115=) rs17127220 0.00006
NM_001080414.4(CCDC88C):c.4026C>A (p.Ile1342=) rs377320239 0.00006
NM_001080414.4(CCDC88C):c.2613G>A (p.Ala871=) rs760184659 0.00005
NM_001080414.4(CCDC88C):c.1341C>T (p.Asp447=) rs200285250 0.00004
NM_001080414.4(CCDC88C):c.2148G>A (p.Met716Ile) rs781492751 0.00004
NM_001080414.4(CCDC88C):c.5059-4G>A rs571920001 0.00004
NM_001080414.4(CCDC88C):c.5805G>A (p.Pro1935=) rs748722869 0.00004
NM_001080414.4(CCDC88C):c.708C>T (p.Ser236=) rs745338278 0.00004
NM_001080414.4(CCDC88C):c.1343-9T>C rs1028092022 0.00003
NM_001080414.4(CCDC88C):c.3358-6C>G rs375400399 0.00003
NM_001080414.4(CCDC88C):c.4113-19C>T rs560507685 0.00003
NM_001080414.4(CCDC88C):c.3543A>G (p.Gln1181=) rs759631877 0.00002
NM_001080414.4(CCDC88C):c.4512C>T (p.Thr1504=) rs760856363 0.00002
NM_001080414.4(CCDC88C):c.462C>T (p.Gly154=) rs779046050 0.00002
NM_001080414.4(CCDC88C):c.4689C>T (p.His1563=) rs773950992 0.00002
NM_001080414.4(CCDC88C):c.891+7C>T rs749044163 0.00002
NM_001080414.4(CCDC88C):c.1342+9C>T rs370624081 0.00001
NM_001080414.4(CCDC88C):c.1794G>A (p.Thr598=) rs373532637 0.00001
NM_001080414.4(CCDC88C):c.2814C>T (p.Val938=) rs541553736 0.00001
NM_001080414.4(CCDC88C):c.3636-4A>G rs777592906 0.00001
NM_001080414.4(CCDC88C):c.615G>A (p.Glu205=) rs931694103 0.00001
NM_001080414.4(CCDC88C):c.621C>T (p.Thr207=) rs202080335 0.00001
NM_001080414.4(CCDC88C):c.972C>T (p.Arg324=) rs756666611 0.00001
NM_001080414.4(CCDC88C):c.1002C>T (p.Arg334=)
NM_001080414.4(CCDC88C):c.1015C>T (p.Leu339=)
NM_001080414.4(CCDC88C):c.1017G>A (p.Leu339=)
NM_001080414.4(CCDC88C):c.1023C>T (p.Asp341=)
NM_001080414.4(CCDC88C):c.103C>T (p.Leu35=)
NM_001080414.4(CCDC88C):c.1041C>T (p.Ala347=)
NM_001080414.4(CCDC88C):c.1050+11T>C
NM_001080414.4(CCDC88C):c.1050+13G>T
NM_001080414.4(CCDC88C):c.1050+15T>C
NM_001080414.4(CCDC88C):c.1050+16G>A
NM_001080414.4(CCDC88C):c.1050+16dup
NM_001080414.4(CCDC88C):c.1050+19A>G
NM_001080414.4(CCDC88C):c.1050+20G>C
NM_001080414.4(CCDC88C):c.1050+6dup
NM_001080414.4(CCDC88C):c.1050+8G>A
NM_001080414.4(CCDC88C):c.1050+9C>A
NM_001080414.4(CCDC88C):c.1050+9C>G
NM_001080414.4(CCDC88C):c.1051-10T>G
NM_001080414.4(CCDC88C):c.1051-13T>G
NM_001080414.4(CCDC88C):c.1051-15G>A
NM_001080414.4(CCDC88C):c.1051-16T>A
NM_001080414.4(CCDC88C):c.1051-18T>G
NM_001080414.4(CCDC88C):c.1051-19G>T
NM_001080414.4(CCDC88C):c.1051-7T>G
NM_001080414.4(CCDC88C):c.1054C>T (p.Leu352=)
NM_001080414.4(CCDC88C):c.1056G>A (p.Leu352=)
NM_001080414.4(CCDC88C):c.1059A>G (p.Arg353=)
NM_001080414.4(CCDC88C):c.1065T>C (p.Asp355=)
NM_001080414.4(CCDC88C):c.1075T>C (p.Leu359=)
NM_001080414.4(CCDC88C):c.1101G>A (p.Glu367=)
NM_001080414.4(CCDC88C):c.1119T>G (p.Ala373=)
NM_001080414.4(CCDC88C):c.1120C>A (p.Arg374=)
NM_001080414.4(CCDC88C):c.1122G>T (p.Arg374=)
NM_001080414.4(CCDC88C):c.1125C>T (p.Ala375=)
NM_001080414.4(CCDC88C):c.1143T>C (p.His381=)
NM_001080414.4(CCDC88C):c.1155G>A (p.Lys385=)
NM_001080414.4(CCDC88C):c.1185C>T (p.His395=)
NM_001080414.4(CCDC88C):c.1197+8A>G
NM_001080414.4(CCDC88C):c.1198-16_1198-15del
NM_001080414.4(CCDC88C):c.1198-19C>A
NM_001080414.4(CCDC88C):c.1198-20C>T
NM_001080414.4(CCDC88C):c.1198-7G>C
NM_001080414.4(CCDC88C):c.1203G>C (p.Arg401=)
NM_001080414.4(CCDC88C):c.1209A>G (p.Thr403=)
NM_001080414.4(CCDC88C):c.1254T>C (p.Leu418=)
NM_001080414.4(CCDC88C):c.1257G>A (p.Glu419=)
NM_001080414.4(CCDC88C):c.1260T>C (p.Ile420=)
NM_001080414.4(CCDC88C):c.1281C>T (p.Asn427=)
NM_001080414.4(CCDC88C):c.1284A>G (p.Glu428=)
NM_001080414.4(CCDC88C):c.129C>T (p.Asp43=)
NM_001080414.4(CCDC88C):c.1311G>A (p.Glu437=)
NM_001080414.4(CCDC88C):c.1314G>A (p.Gln438=)
NM_001080414.4(CCDC88C):c.1315C>T (p.Leu439=)
NM_001080414.4(CCDC88C):c.1323G>A (p.Lys441=)
NM_001080414.4(CCDC88C):c.1326C>T (p.Asn442=)
NM_001080414.4(CCDC88C):c.1338A>G (p.Ser446=)
NM_001080414.4(CCDC88C):c.1342+10G>A
NM_001080414.4(CCDC88C):c.1342+14G>A
NM_001080414.4(CCDC88C):c.1342+17G>A
NM_001080414.4(CCDC88C):c.1342+20G>T
NM_001080414.4(CCDC88C):c.1342+9C>A
NM_001080414.4(CCDC88C):c.1343-16T>C
NM_001080414.4(CCDC88C):c.1343-19G>A
NM_001080414.4(CCDC88C):c.1343-19G>C
NM_001080414.4(CCDC88C):c.1344C>T (p.Ala448=)
NM_001080414.4(CCDC88C):c.1347C>T (p.Ser449=)
NM_001080414.4(CCDC88C):c.1353G>A (p.Lys451=)
NM_001080414.4(CCDC88C):c.1356G>A (p.Ser452=)
NM_001080414.4(CCDC88C):c.1362G>C (p.Val454=)
NM_001080414.4(CCDC88C):c.1371G>A (p.Leu457=)
NM_001080414.4(CCDC88C):c.1371G>C (p.Leu457=)
NM_001080414.4(CCDC88C):c.1383G>A (p.Ala461=)
NM_001080414.4(CCDC88C):c.1383G>C (p.Ala461=)
NM_001080414.4(CCDC88C):c.1389C>T (p.Ser463=)
NM_001080414.4(CCDC88C):c.1392C>A (p.Arg464=)
NM_001080414.4(CCDC88C):c.1398G>A (p.Leu466=)
NM_001080414.4(CCDC88C):c.1402C>T (p.Leu468=)
NM_001080414.4(CCDC88C):c.1434C>T (p.Thr478=)
NM_001080414.4(CCDC88C):c.1443G>T (p.Gly481=)
NM_001080414.4(CCDC88C):c.1446G>A (p.Leu482=)
NM_001080414.4(CCDC88C):c.1452C>T (p.Asp484=)
NM_001080414.4(CCDC88C):c.1455G>A (p.Ala485=)
NM_001080414.4(CCDC88C):c.1455G>T (p.Ala485=)
NM_001080414.4(CCDC88C):c.1458C>G (p.Ser486=)
NM_001080414.4(CCDC88C):c.1458C>T (p.Ser486=)
NM_001080414.4(CCDC88C):c.1464G>A (p.Val488=)
NM_001080414.4(CCDC88C):c.1476C>T (p.Ser492=)
NM_001080414.4(CCDC88C):c.1485G>A (p.Lys495=)
NM_001080414.4(CCDC88C):c.1488C>T (p.Cys496=)
NM_001080414.4(CCDC88C):c.1509C>T (p.Asn503=)
NM_001080414.4(CCDC88C):c.1527+19G>A
NM_001080414.4(CCDC88C):c.1527+7C>T
NM_001080414.4(CCDC88C):c.1527+8G>T
NM_001080414.4(CCDC88C):c.1528-10G>T
NM_001080414.4(CCDC88C):c.1528-20T>C
NM_001080414.4(CCDC88C):c.1548G>A (p.Gln516=)
NM_001080414.4(CCDC88C):c.1560A>G (p.Glu520=)
NM_001080414.4(CCDC88C):c.1566G>A (p.Gln522=)
NM_001080414.4(CCDC88C):c.1593T>C (p.Ser531=)
NM_001080414.4(CCDC88C):c.1608A>G (p.Arg536=) rs61743971
NM_001080414.4(CCDC88C):c.161+10C>G
NM_001080414.4(CCDC88C):c.161+15_161+17del
NM_001080414.4(CCDC88C):c.161+18C>A
NM_001080414.4(CCDC88C):c.161+18C>T
NM_001080414.4(CCDC88C):c.161+4_161+6dup
NM_001080414.4(CCDC88C):c.161+9C>T
NM_001080414.4(CCDC88C):c.162-16G>A
NM_001080414.4(CCDC88C):c.162-17C>T
NM_001080414.4(CCDC88C):c.162-19C>T
NM_001080414.4(CCDC88C):c.162-4C>T
NM_001080414.4(CCDC88C):c.162-5C>G
NM_001080414.4(CCDC88C):c.162-7C>A
NM_001080414.4(CCDC88C):c.162-7C>T
NM_001080414.4(CCDC88C):c.162-8T>C
NM_001080414.4(CCDC88C):c.1623G>A (p.Leu541=)
NM_001080414.4(CCDC88C):c.1629T>C (p.Ser543=)
NM_001080414.4(CCDC88C):c.1641C>A (p.Thr547=)
NM_001080414.4(CCDC88C):c.1659C>T (p.Ala553=)
NM_001080414.4(CCDC88C):c.1665+10T>A
NM_001080414.4(CCDC88C):c.1665+10T>C
NM_001080414.4(CCDC88C):c.1665+10T>G
NM_001080414.4(CCDC88C):c.1665+11C>T
NM_001080414.4(CCDC88C):c.1665+12C>A
NM_001080414.4(CCDC88C):c.1665+16A>G
NM_001080414.4(CCDC88C):c.1665+19A>G
NM_001080414.4(CCDC88C):c.1665+9C>T
NM_001080414.4(CCDC88C):c.1666-4G>A
NM_001080414.4(CCDC88C):c.1666-7C>T
NM_001080414.4(CCDC88C):c.1674C>T (p.Asp558=)
NM_001080414.4(CCDC88C):c.1698C>T (p.Leu566=)
NM_001080414.4(CCDC88C):c.1707C>T (p.Ala569=)
NM_001080414.4(CCDC88C):c.1716G>A (p.Ser572=)
NM_001080414.4(CCDC88C):c.1717C>T (p.Leu573=)
NM_001080414.4(CCDC88C):c.171G>A (p.Arg57=)
NM_001080414.4(CCDC88C):c.1722G>C (p.Arg574=)
NM_001080414.4(CCDC88C):c.1731G>A (p.Ser577=)
NM_001080414.4(CCDC88C):c.1740C>T (p.Ser580=)
NM_001080414.4(CCDC88C):c.1743T>C (p.Ser581=)
NM_001080414.4(CCDC88C):c.1749C>T (p.Ala583=)
NM_001080414.4(CCDC88C):c.1761C>T (p.Asp587=)
NM_001080414.4(CCDC88C):c.1767G>A (p.Glu589=)
NM_001080414.4(CCDC88C):c.1770G>A (p.Lys590=)
NM_001080414.4(CCDC88C):c.1785C>T (p.Leu595=)
NM_001080414.4(CCDC88C):c.1800G>A (p.Thr600=)
NM_001080414.4(CCDC88C):c.1815G>A (p.Lys605=)
NM_001080414.4(CCDC88C):c.1818C>T (p.Leu606=)
NM_001080414.4(CCDC88C):c.1827G>A (p.Leu609=)
NM_001080414.4(CCDC88C):c.1830G>A (p.Glu610=)
NM_001080414.4(CCDC88C):c.183A>G (p.Gln61=)
NM_001080414.4(CCDC88C):c.1842G>A (p.Arg614=)
NM_001080414.4(CCDC88C):c.1854G>A (p.Arg618=)
NM_001080414.4(CCDC88C):c.1866G>A (p.Gln622=)
NM_001080414.4(CCDC88C):c.1872G>A (p.Lys624=)
NM_001080414.4(CCDC88C):c.1878G>A (p.Lys626=)
NM_001080414.4(CCDC88C):c.1881G>A (p.Gly627=)
NM_001080414.4(CCDC88C):c.1884G>A (p.Glu628=)
NM_001080414.4(CCDC88C):c.189C>T (p.Ile63=)
NM_001080414.4(CCDC88C):c.1902G>A (p.Glu634=)
NM_001080414.4(CCDC88C):c.1911A>C (p.Leu637=)
NM_001080414.4(CCDC88C):c.1932C>T (p.Asn644=)
NM_001080414.4(CCDC88C):c.1941G>A (p.Leu647=)
NM_001080414.4(CCDC88C):c.1944C>T (p.Ala648=)
NM_001080414.4(CCDC88C):c.1959C>T (p.Ser653=)
NM_001080414.4(CCDC88C):c.1974C>T (p.Thr658=)
NM_001080414.4(CCDC88C):c.1983C>A (p.Val661=)
NM_001080414.4(CCDC88C):c.1983C>T (p.Val661=)
NM_001080414.4(CCDC88C):c.198C>T (p.His66=)
NM_001080414.4(CCDC88C):c.2013G>A (p.Leu671=)
NM_001080414.4(CCDC88C):c.2025C>T (p.Asn675=)
NM_001080414.4(CCDC88C):c.2031T>C (p.Thr677=)
NM_001080414.4(CCDC88C):c.2034G>A (p.Leu678=)
NM_001080414.4(CCDC88C):c.2046G>A (p.Leu682=)
NM_001080414.4(CCDC88C):c.2052C>A (p.Thr684=)
NM_001080414.4(CCDC88C):c.2058G>A (p.Gln686=)
NM_001080414.4(CCDC88C):c.2061C>T (p.Asn687=)
NM_001080414.4(CCDC88C):c.2064G>A (p.Val688=)
NM_001080414.4(CCDC88C):c.2066C>G (p.Ser689Cys)
NM_001080414.4(CCDC88C):c.2067C>T (p.Ser689=)
NM_001080414.4(CCDC88C):c.2068C>T (p.Leu690=)
NM_001080414.4(CCDC88C):c.2097C>T (p.Asn699=)
NM_001080414.4(CCDC88C):c.2109C>T (p.Asp703=)
NM_001080414.4(CCDC88C):c.210T>C (p.Asp70=)
NM_001080414.4(CCDC88C):c.2112A>G (p.Ala704=)
NM_001080414.4(CCDC88C):c.2119C>T (p.Leu707=)
NM_001080414.4(CCDC88C):c.2121G>C (p.Leu707=)
NM_001080414.4(CCDC88C):c.2125C>T (p.Leu709=)
NM_001080414.4(CCDC88C):c.2142G>A (p.Glu714=)
NM_001080414.4(CCDC88C):c.2145C>T (p.Thr715=)
NM_001080414.4(CCDC88C):c.2175G>A (p.Gln725=)
NM_001080414.4(CCDC88C):c.2190C>T (p.Asn730=)
NM_001080414.4(CCDC88C):c.2193G>A (p.Gln731=)
NM_001080414.4(CCDC88C):c.2218C>T (p.Leu740=)
NM_001080414.4(CCDC88C):c.2229C>T (p.Asn743=)
NM_001080414.4(CCDC88C):c.2238G>A (p.Leu746=)
NM_001080414.4(CCDC88C):c.2241C>G (p.Leu747=)
NM_001080414.4(CCDC88C):c.2246C>T (p.Ala749Val)
NM_001080414.4(CCDC88C):c.2247G>A (p.Ala749=)
NM_001080414.4(CCDC88C):c.2247G>T (p.Ala749=)
NM_001080414.4(CCDC88C):c.2277C>G (p.Leu759=)
NM_001080414.4(CCDC88C):c.2280C>T (p.Ser760=)
NM_001080414.4(CCDC88C):c.2283C>T (p.Tyr761=)
NM_001080414.4(CCDC88C):c.2295C>T (p.Ser765=)
NM_001080414.4(CCDC88C):c.2296G>A (p.Ala766Thr)
NM_001080414.4(CCDC88C):c.2301G>A (p.Glu767=)
NM_001080414.4(CCDC88C):c.2316G>A (p.Gln772=)
NM_001080414.4(CCDC88C):c.2325G>T (p.Leu775=)
NM_001080414.4(CCDC88C):c.2328G>A (p.Glu776=)
NM_001080414.4(CCDC88C):c.2346G>A (p.Thr782=)
NM_001080414.4(CCDC88C):c.2355G>A (p.Leu785=)
NM_001080414.4(CCDC88C):c.2358G>A (p.Glu786=)
NM_001080414.4(CCDC88C):c.2365C>T (p.Leu789=)
NM_001080414.4(CCDC88C):c.2373G>A (p.Glu791=)
NM_001080414.4(CCDC88C):c.2374C>T (p.Leu792=)
NM_001080414.4(CCDC88C):c.2386C>T (p.Arg796Cys)
NM_001080414.4(CCDC88C):c.2388C>A (p.Arg796=)
NM_001080414.4(CCDC88C):c.2394G>A (p.Ala798=)
NM_001080414.4(CCDC88C):c.2403G>A (p.Arg801=)
NM_001080414.4(CCDC88C):c.2409G>A (p.Leu803=)
NM_001080414.4(CCDC88C):c.240C>T (p.Ile80=)
NM_001080414.4(CCDC88C):c.2422C>T (p.Leu808=)
NM_001080414.4(CCDC88C):c.2436G>A (p.Gln812=)
NM_001080414.4(CCDC88C):c.243G>A (p.Leu81=)
NM_001080414.4(CCDC88C):c.2448C>A (p.Ala816=)
NM_001080414.4(CCDC88C):c.2448C>T (p.Ala816=)
NM_001080414.4(CCDC88C):c.2460G>A (p.Arg820=)
NM_001080414.4(CCDC88C):c.2472G>A (p.Glu824=)
NM_001080414.4(CCDC88C):c.2490C>G (p.Leu830=)
NM_001080414.4(CCDC88C):c.2490C>T (p.Leu830=)
NM_001080414.4(CCDC88C):c.252C>T (p.Asn84=)
NM_001080414.4(CCDC88C):c.2553G>A (p.Lys851=) rs1051150148
NM_001080414.4(CCDC88C):c.2562C>A (p.Val854=)
NM_001080414.4(CCDC88C):c.2565G>A (p.Leu855=)
NM_001080414.4(CCDC88C):c.2571T>C (p.Asp857=)
NM_001080414.4(CCDC88C):c.2574C>T (p.Ser858=)
NM_001080414.4(CCDC88C):c.2586G>A (p.Leu862=)
NM_001080414.4(CCDC88C):c.2589C>T (p.Ser863=)
NM_001080414.4(CCDC88C):c.2592C>T (p.Ala864=)
NM_001080414.4(CCDC88C):c.2610C>T (p.Arg870=)
NM_001080414.4(CCDC88C):c.261C>T (p.Thr87=)
NM_001080414.4(CCDC88C):c.2643C>T (p.Asp881=)
NM_001080414.4(CCDC88C):c.2649C>T (p.Ala883=)
NM_001080414.4(CCDC88C):c.2650G>A (p.Gly884Ser)
NM_001080414.4(CCDC88C):c.2652C>A (p.Gly884=)
NM_001080414.4(CCDC88C):c.2658G>A (p.Leu886=)
NM_001080414.4(CCDC88C):c.2667G>A (p.Leu889=)
NM_001080414.4(CCDC88C):c.267C>T (p.Tyr89=)
NM_001080414.4(CCDC88C):c.270+10G>T
NM_001080414.4(CCDC88C):c.270+12_270+14del
NM_001080414.4(CCDC88C):c.270+17T>C
NM_001080414.4(CCDC88C):c.270+20C>T
NM_001080414.4(CCDC88C):c.270+7G>A
NM_001080414.4(CCDC88C):c.270+9A>G
NM_001080414.4(CCDC88C):c.2700C>A (p.Val900=)
NM_001080414.4(CCDC88C):c.2703C>T (p.Thr901=)
NM_001080414.4(CCDC88C):c.271-14C>G
NM_001080414.4(CCDC88C):c.271-15C>T
NM_001080414.4(CCDC88C):c.271-16C>G
NM_001080414.4(CCDC88C):c.271-19T>C
NM_001080414.4(CCDC88C):c.271-6C>T
NM_001080414.4(CCDC88C):c.2718A>G (p.Thr906=)
NM_001080414.4(CCDC88C):c.2736+10C>T
NM_001080414.4(CCDC88C):c.2736+12C>T
NM_001080414.4(CCDC88C):c.2736+13A>T
NM_001080414.4(CCDC88C):c.2736+15G>A
NM_001080414.4(CCDC88C):c.2736+16C>G
NM_001080414.4(CCDC88C):c.2736+17G>A
NM_001080414.4(CCDC88C):c.2736+19C>T
NM_001080414.4(CCDC88C):c.2736+20G>A
NM_001080414.4(CCDC88C):c.2737-11C>G
NM_001080414.4(CCDC88C):c.2737-13C>T
NM_001080414.4(CCDC88C):c.2737-14C>T
NM_001080414.4(CCDC88C):c.2737-16C>T
NM_001080414.4(CCDC88C):c.2737-20C>T
NM_001080414.4(CCDC88C):c.2737-5T>C
NM_001080414.4(CCDC88C):c.2742G>A (p.Leu914=)
NM_001080414.4(CCDC88C):c.2742G>T (p.Leu914=)
NM_001080414.4(CCDC88C):c.2748C>G (p.Leu916=)
NM_001080414.4(CCDC88C):c.2748C>T (p.Leu916=)
NM_001080414.4(CCDC88C):c.2757G>A (p.Leu919=)
NM_001080414.4(CCDC88C):c.2763C>T (p.Ser921=)
NM_001080414.4(CCDC88C):c.2782C>T (p.Leu928=)
NM_001080414.4(CCDC88C):c.2784G>C (p.Leu928=)
NM_001080414.4(CCDC88C):c.2787C>T (p.Asp929=)
NM_001080414.4(CCDC88C):c.2793G>A (p.Leu931=)
NM_001080414.4(CCDC88C):c.2818C>T (p.Leu940Phe)
NM_001080414.4(CCDC88C):c.2829G>A (p.Glu943=)
NM_001080414.4(CCDC88C):c.2832G>C (p.Leu944=)
NM_001080414.4(CCDC88C):c.2833C>T (p.Leu945=)
NM_001080414.4(CCDC88C):c.2847C>T (p.Asp949=)
NM_001080414.4(CCDC88C):c.2853C>T (p.Ser951=)
NM_001080414.4(CCDC88C):c.285G>A (p.Gln95=)
NM_001080414.4(CCDC88C):c.2864+11C>G
NM_001080414.4(CCDC88C):c.2864+14C>T
NM_001080414.4(CCDC88C):c.2864+18C>T
NM_001080414.4(CCDC88C):c.2864+19T>C
NM_001080414.4(CCDC88C):c.2864+9C>T
NM_001080414.4(CCDC88C):c.2865-11G>T
NM_001080414.4(CCDC88C):c.2865-15C>G
NM_001080414.4(CCDC88C):c.2865-4C>T
NM_001080414.4(CCDC88C):c.2865-8T>C
NM_001080414.4(CCDC88C):c.2865-9_2865-8del
NM_001080414.4(CCDC88C):c.2868A>G (p.Lys956=)
NM_001080414.4(CCDC88C):c.2895A>G (p.Glu965=)
NM_001080414.4(CCDC88C):c.2898A>C (p.Ser966=)
NM_001080414.4(CCDC88C):c.2913A>G (p.Thr971=)
NM_001080414.4(CCDC88C):c.2946A>G (p.Leu982=)
NM_001080414.4(CCDC88C):c.2955G>A (p.Gln985=)
NM_001080414.4(CCDC88C):c.2961A>G (p.Glu987=)
NM_001080414.4(CCDC88C):c.2964G>A (p.Glu988=)
NM_001080414.4(CCDC88C):c.2967A>G (p.Lys989=)
NM_001080414.4(CCDC88C):c.2970G>A (p.Ala990=)
NM_001080414.4(CCDC88C):c.2974C>T (p.Leu992=)
NM_001080414.4(CCDC88C):c.2982C>T (p.Arg994=)
NM_001080414.4(CCDC88C):c.3000G>A (p.Leu1000=)
NM_001080414.4(CCDC88C):c.3006+11A>T
NM_001080414.4(CCDC88C):c.3006+12G>C
NM_001080414.4(CCDC88C):c.3006+13G>T
NM_001080414.4(CCDC88C):c.3006+20T>C
NM_001080414.4(CCDC88C):c.3007-15T>C
NM_001080414.4(CCDC88C):c.3007-16A>G
NM_001080414.4(CCDC88C):c.3007-4G>T
NM_001080414.4(CCDC88C):c.3007-7C>T
NM_001080414.4(CCDC88C):c.3033G>A (p.Arg1011=)
NM_001080414.4(CCDC88C):c.3042G>A (p.Gln1014=)
NM_001080414.4(CCDC88C):c.3051G>A (p.Gly1017=)
NM_001080414.4(CCDC88C):c.3072C>T (p.Phe1024=)
NM_001080414.4(CCDC88C):c.3084G>A (p.Ala1028=)
NM_001080414.4(CCDC88C):c.3087G>C (p.Gly1029=)
NM_001080414.4(CCDC88C):c.3087G>T (p.Gly1029=)
NM_001080414.4(CCDC88C):c.3096C>T (p.Ala1032=)
NM_001080414.4(CCDC88C):c.3126G>A (p.Gly1042=)
NM_001080414.4(CCDC88C):c.3138G>A (p.Lys1046=)
NM_001080414.4(CCDC88C):c.3153G>A (p.Glu1051=)
NM_001080414.4(CCDC88C):c.3160C>A (p.Arg1054=)
NM_001080414.4(CCDC88C):c.3174G>T (p.Arg1058=)
NM_001080414.4(CCDC88C):c.3177C>T (p.Ala1059=)
NM_001080414.4(CCDC88C):c.3180C>A (p.Ile1060=)
NM_001080414.4(CCDC88C):c.3180C>T (p.Ile1060=)
NM_001080414.4(CCDC88C):c.3183G>A (p.Glu1061=)
NM_001080414.4(CCDC88C):c.3189G>A (p.Glu1063=)
NM_001080414.4(CCDC88C):c.3195+12G>A
NM_001080414.4(CCDC88C):c.3195+13G>A
NM_001080414.4(CCDC88C):c.3195+15C>T
NM_001080414.4(CCDC88C):c.3195+7G>A
NM_001080414.4(CCDC88C):c.3195+8G>A
NM_001080414.4(CCDC88C):c.3195+9G>A
NM_001080414.4(CCDC88C):c.3195+9_3195+13del
NM_001080414.4(CCDC88C):c.3196-10G>A
NM_001080414.4(CCDC88C):c.3196-11C>T
NM_001080414.4(CCDC88C):c.3196-13C>T
NM_001080414.4(CCDC88C):c.3196-13_3196-6del
NM_001080414.4(CCDC88C):c.3196-15C>A
NM_001080414.4(CCDC88C):c.3196-19A>G
NM_001080414.4(CCDC88C):c.3196-20C>T
NM_001080414.4(CCDC88C):c.3196-5_3196-3del
NM_001080414.4(CCDC88C):c.3205C>T (p.Leu1069=)
NM_001080414.4(CCDC88C):c.3210G>A (p.Gln1070=)
NM_001080414.4(CCDC88C):c.3226C>T (p.Leu1076=)
NM_001080414.4(CCDC88C):c.3228A>G (p.Leu1076=)
NM_001080414.4(CCDC88C):c.3246C>T (p.His1082=)
NM_001080414.4(CCDC88C):c.3255C>T (p.Thr1085=)
NM_001080414.4(CCDC88C):c.3261C>T (p.Asn1087=)
NM_001080414.4(CCDC88C):c.3271A>G (p.Ser1091Gly)
NM_001080414.4(CCDC88C):c.3288A>G (p.Thr1096=)
NM_001080414.4(CCDC88C):c.3297A>G (p.Lys1099=)
NM_001080414.4(CCDC88C):c.3303C>T (p.Ser1101=)
NM_001080414.4(CCDC88C):c.3306C>T (p.Ala1102=)
NM_001080414.4(CCDC88C):c.3318G>A (p.Glu1106=)
NM_001080414.4(CCDC88C):c.3342G>A (p.Gln1114=)
NM_001080414.4(CCDC88C):c.3345C>G (p.Thr1115=)
NM_001080414.4(CCDC88C):c.3357+10G>A
NM_001080414.4(CCDC88C):c.3357+10G>T
NM_001080414.4(CCDC88C):c.3357+11C>T
NM_001080414.4(CCDC88C):c.3357+19A>G
NM_001080414.4(CCDC88C):c.3357+7G>A
NM_001080414.4(CCDC88C):c.3358-10C>G
NM_001080414.4(CCDC88C):c.3358-10C>T
NM_001080414.4(CCDC88C):c.3358-19C>T
NM_001080414.4(CCDC88C):c.3358-19_3358-5dup
NM_001080414.4(CCDC88C):c.3358-20G>C
NM_001080414.4(CCDC88C):c.3358-20GC[3]
NM_001080414.4(CCDC88C):c.3358-5G>C
NM_001080414.4(CCDC88C):c.3358-6C>T
NM_001080414.4(CCDC88C):c.3358-8C>T
NM_001080414.4(CCDC88C):c.3360G>A (p.Val1120=)
NM_001080414.4(CCDC88C):c.3387C>T (p.Ser1129=)
NM_001080414.4(CCDC88C):c.3390A>C (p.Ala1130=)
NM_001080414.4(CCDC88C):c.3393G>A (p.Ala1131=)
NM_001080414.4(CCDC88C):c.3399C>T (p.Thr1133=)
NM_001080414.4(CCDC88C):c.340+13C>T
NM_001080414.4(CCDC88C):c.340+16T>C
NM_001080414.4(CCDC88C):c.340+7G>A
NM_001080414.4(CCDC88C):c.340+7G>T
NM_001080414.4(CCDC88C):c.340+7_340+8insT
NM_001080414.4(CCDC88C):c.340+8A>G
NM_001080414.4(CCDC88C):c.3402G>A (p.Ala1134=)
NM_001080414.4(CCDC88C):c.341-10C>T
NM_001080414.4(CCDC88C):c.341-12C>T
NM_001080414.4(CCDC88C):c.341-14C>T
NM_001080414.4(CCDC88C):c.341-16T>C
NM_001080414.4(CCDC88C):c.341-19T>A
NM_001080414.4(CCDC88C):c.341-20G>A
NM_001080414.4(CCDC88C):c.3411G>C (p.Thr1137=)
NM_001080414.4(CCDC88C):c.3435C>T (p.Ala1145=)
NM_001080414.4(CCDC88C):c.3444G>A (p.Thr1148=)
NM_001080414.4(CCDC88C):c.3447G>A (p.Glu1149=)
NM_001080414.4(CCDC88C):c.3450C>T (p.Asn1150=)
NM_001080414.4(CCDC88C):c.3477A>G (p.Gln1159=)
NM_001080414.4(CCDC88C):c.3486G>T (p.Ala1162=)
NM_001080414.4(CCDC88C):c.3492C>T (p.Tyr1164=)
NM_001080414.4(CCDC88C):c.3495G>A (p.Glu1165=)
NM_001080414.4(CCDC88C):c.3498C>T (p.Ala1166=)
NM_001080414.4(CCDC88C):c.3513C>T (p.His1171=)
NM_001080414.4(CCDC88C):c.3520C>T (p.Leu1174=)
NM_001080414.4(CCDC88C):c.3527C>T (p.Thr1176Met)
NM_001080414.4(CCDC88C):c.3531G>A (p.Leu1177=)
NM_001080414.4(CCDC88C):c.3531G>T (p.Leu1177=)
NM_001080414.4(CCDC88C):c.3534C>T (p.His1178=)
NM_001080414.4(CCDC88C):c.3546G>T (p.Ser1182=)
NM_001080414.4(CCDC88C):c.3549C>G (p.Ala1183=)
NM_001080414.4(CCDC88C):c.3549C>T (p.Ala1183=)
NM_001080414.4(CCDC88C):c.3562C>G (p.Leu1188Val)
NM_001080414.4(CCDC88C):c.3564C>T (p.Leu1188=)
NM_001080414.4(CCDC88C):c.3567C>T (p.Ile1189=)
NM_001080414.4(CCDC88C):c.3573G>A (p.Gln1191=)
NM_001080414.4(CCDC88C):c.3576C>T (p.His1192=)
NM_001080414.4(CCDC88C):c.3591A>G (p.Thr1197=)
NM_001080414.4(CCDC88C):c.360C>T (p.Ile120=)
NM_001080414.4(CCDC88C):c.3618C>T (p.His1206=)
NM_001080414.4(CCDC88C):c.3635+10G>C
NM_001080414.4(CCDC88C):c.3635+13G>A
NM_001080414.4(CCDC88C):c.3635+15A>T
NM_001080414.4(CCDC88C):c.3635+18A>T
NM_001080414.4(CCDC88C):c.3635+19A>C
NM_001080414.4(CCDC88C):c.3635+20G>A
NM_001080414.4(CCDC88C):c.3635+8C>T
NM_001080414.4(CCDC88C):c.3635+9T>C
NM_001080414.4(CCDC88C):c.3636-10C>T
NM_001080414.4(CCDC88C):c.3636-17G>A
NM_001080414.4(CCDC88C):c.3636-19A>T
NM_001080414.4(CCDC88C):c.3636-20C>A
NM_001080414.4(CCDC88C):c.3636-20_3636-17dup
NM_001080414.4(CCDC88C):c.3636-5A>G
NM_001080414.4(CCDC88C):c.3636-7C>G
NM_001080414.4(CCDC88C):c.3636-9C>T
NM_001080414.4(CCDC88C):c.3642T>C (p.Gly1214=)
NM_001080414.4(CCDC88C):c.3645C>T (p.Asp1215=)
NM_001080414.4(CCDC88C):c.3688T>C (p.Leu1230=)
NM_001080414.4(CCDC88C):c.3699G>A (p.Glu1233=)
NM_001080414.4(CCDC88C):c.369G>T (p.Val123=)
NM_001080414.4(CCDC88C):c.3708G>A (p.Ala1236=)
NM_001080414.4(CCDC88C):c.3732C>T (p.Asn1244=)
NM_001080414.4(CCDC88C):c.3735C>T (p.Ala1245=)
NM_001080414.4(CCDC88C):c.3738C>T (p.Leu1246=)
NM_001080414.4(CCDC88C):c.3760C>T (p.Leu1254=)
NM_001080414.4(CCDC88C):c.3777C>T (p.Asp1259=)
NM_001080414.4(CCDC88C):c.3779+11G>A
NM_001080414.4(CCDC88C):c.3779+12C>T
NM_001080414.4(CCDC88C):c.3779+13G>A
NM_001080414.4(CCDC88C):c.3779+16C>A
NM_001080414.4(CCDC88C):c.3779+16C>T
NM_001080414.4(CCDC88C):c.3779+17G>A
NM_001080414.4(CCDC88C):c.3779+20C>G
NM_001080414.4(CCDC88C):c.3779+7G>A
NM_001080414.4(CCDC88C):c.3780-10C>T
NM_001080414.4(CCDC88C):c.3780-14T>C
NM_001080414.4(CCDC88C):c.3780-18T>C
NM_001080414.4(CCDC88C):c.3780-7C>T
NM_001080414.4(CCDC88C):c.3780-8T>G
NM_001080414.4(CCDC88C):c.3780-9del
NM_001080414.4(CCDC88C):c.3783C>G (p.Val1261=)
NM_001080414.4(CCDC88C):c.3790C>T (p.Leu1264=)
NM_001080414.4(CCDC88C):c.3816C>T (p.Tyr1272=)
NM_001080414.4(CCDC88C):c.381G>C (p.Val127=)
NM_001080414.4(CCDC88C):c.3843G>A (p.Glu1281=)
NM_001080414.4(CCDC88C):c.3846G>A (p.Leu1282=)
NM_001080414.4(CCDC88C):c.3864C>T (p.Asn1288=)
NM_001080414.4(CCDC88C):c.3867G>A (p.Ala1289=)
NM_001080414.4(CCDC88C):c.3867G>T (p.Ala1289=)
NM_001080414.4(CCDC88C):c.3882C>T (p.Asn1294=) rs1596038211
NM_001080414.4(CCDC88C):c.3903C>T (p.Asp1301=)
NM_001080414.4(CCDC88C):c.390T>C (p.Cys130=)
NM_001080414.4(CCDC88C):c.3921C>T (p.His1307=)
NM_001080414.4(CCDC88C):c.3933C>T (p.Asp1311=)
NM_001080414.4(CCDC88C):c.3939G>A (p.Ser1313=)
NM_001080414.4(CCDC88C):c.3945C>T (p.Thr1315=)
NM_001080414.4(CCDC88C):c.3951G>A (p.Leu1317=)
NM_001080414.4(CCDC88C):c.3954C>T (p.Asp1318=)
NM_001080414.4(CCDC88C):c.3966+10G>C
NM_001080414.4(CCDC88C):c.3966+11C>T
NM_001080414.4(CCDC88C):c.3966+14C>G
NM_001080414.4(CCDC88C):c.3966+14C>T
NM_001080414.4(CCDC88C):c.3966+7C>G
NM_001080414.4(CCDC88C):c.3966+8C>G
NM_001080414.4(CCDC88C):c.3967-13G>A
NM_001080414.4(CCDC88C):c.3967-17G>A
NM_001080414.4(CCDC88C):c.3967-18T>C
NM_001080414.4(CCDC88C):c.3967-18del
NM_001080414.4(CCDC88C):c.3967-19C>T
NM_001080414.4(CCDC88C):c.3967-20G>A
NM_001080414.4(CCDC88C):c.3967-4C>G
NM_001080414.4(CCDC88C):c.3967-9G>T
NM_001080414.4(CCDC88C):c.3987G>C (p.Gly1329=)
NM_001080414.4(CCDC88C):c.399+17G>C
NM_001080414.4(CCDC88C):c.399+7A>G
NM_001080414.4(CCDC88C):c.3999A>G (p.Glu1333=)
NM_001080414.4(CCDC88C):c.400-10C>T
NM_001080414.4(CCDC88C):c.400-14G>A
NM_001080414.4(CCDC88C):c.400-15T>C
NM_001080414.4(CCDC88C):c.400-4G>A
NM_001080414.4(CCDC88C):c.400-4G>T
NM_001080414.4(CCDC88C):c.400-9C>T
NM_001080414.4(CCDC88C):c.4015C>T (p.Leu1339=)
NM_001080414.4(CCDC88C):c.4020C>T (p.Ser1340=)
NM_001080414.4(CCDC88C):c.4023G>A (p.Gln1341=)
NM_001080414.4(CCDC88C):c.4032G>C (p.Leu1344=)
NM_001080414.4(CCDC88C):c.4041G>A (p.Gln1347=)
NM_001080414.4(CCDC88C):c.4050G>A (p.Gln1350=)
NM_001080414.4(CCDC88C):c.4059G>C (p.Leu1353=)
NM_001080414.4(CCDC88C):c.4074G>A (p.Glu1358=)
NM_001080414.4(CCDC88C):c.4077C>T (p.Asn1359=)
NM_001080414.4(CCDC88C):c.4086G>A (p.Gln1362=)
NM_001080414.4(CCDC88C):c.4101G>A (p.Gln1367=)
NM_001080414.4(CCDC88C):c.4112+10G>A
NM_001080414.4(CCDC88C):c.4112+12G>C
NM_001080414.4(CCDC88C):c.4112+15C>T
NM_001080414.4(CCDC88C):c.4112+16C>T
NM_001080414.4(CCDC88C):c.4112+19A>G
NM_001080414.4(CCDC88C):c.4112+20A>G
NM_001080414.4(CCDC88C):c.4112+6dup
NM_001080414.4(CCDC88C):c.4112+9G>A
NM_001080414.4(CCDC88C):c.4113-10A>G
NM_001080414.4(CCDC88C):c.4113-10A>T
NM_001080414.4(CCDC88C):c.4113-11T>G
NM_001080414.4(CCDC88C):c.4113-14T>C
NM_001080414.4(CCDC88C):c.4113-5C>T rs1596028189
NM_001080414.4(CCDC88C):c.4143G>A (p.Lys1381=)
NM_001080414.4(CCDC88C):c.4164C>A (p.Ile1388=)
NM_001080414.4(CCDC88C):c.4176C>T (p.Tyr1392=)
NM_001080414.4(CCDC88C):c.4191T>C (p.Pro1397=)
NM_001080414.4(CCDC88C):c.4202+11_4202+16del
NM_001080414.4(CCDC88C):c.4202+16T>A
NM_001080414.4(CCDC88C):c.4202+17G>A
NM_001080414.4(CCDC88C):c.4203-15T>C
NM_001080414.4(CCDC88C):c.4203-16A>C
NM_001080414.4(CCDC88C):c.4203-16A>T
NM_001080414.4(CCDC88C):c.4203-17C>T
NM_001080414.4(CCDC88C):c.4203-18del
NM_001080414.4(CCDC88C):c.4203-6A>C
NM_001080414.4(CCDC88C):c.4230C>T (p.Ala1410=)
NM_001080414.4(CCDC88C):c.4242C>G (p.Leu1414=)
NM_001080414.4(CCDC88C):c.4242C>T (p.Leu1414=)
NM_001080414.4(CCDC88C):c.4266G>A (p.Ser1422=)
NM_001080414.4(CCDC88C):c.4275C>G (p.Arg1425=)
NM_001080414.4(CCDC88C):c.4284C>T (p.Ser1428=)
NM_001080414.4(CCDC88C):c.4296C>T (p.Ser1432=)
NM_001080414.4(CCDC88C):c.4302C>A (p.Pro1434=)
NM_001080414.4(CCDC88C):c.4302C>T (p.Pro1434=)
NM_001080414.4(CCDC88C):c.4311G>A (p.Leu1437=)
NM_001080414.4(CCDC88C):c.4332G>A (p.Ser1444=)
NM_001080414.4(CCDC88C):c.4335G>A (p.Pro1445=)
NM_001080414.4(CCDC88C):c.4338G>A (p.Ala1446=)
NM_001080414.4(CCDC88C):c.4350G>A (p.Pro1450=)
NM_001080414.4(CCDC88C):c.4353C>T (p.Leu1451=)
NM_001080414.4(CCDC88C):c.4356A>G (p.Arg1452=)
NM_001080414.4(CCDC88C):c.4365C>G (p.Ala1455=)
NM_001080414.4(CCDC88C):c.4365C>T (p.Ala1455=)
NM_001080414.4(CCDC88C):c.4374C>T (p.Pro1458=)
NM_001080414.4(CCDC88C):c.4383C>A (p.Pro1461=)
NM_001080414.4(CCDC88C):c.4383C>T (p.Pro1461=)
NM_001080414.4(CCDC88C):c.4398C>T (p.Asn1466=)
NM_001080414.4(CCDC88C):c.4413C>T (p.Arg1471=)
NM_001080414.4(CCDC88C):c.4416C>T (p.Asp1472=)
NM_001080414.4(CCDC88C):c.441G>A (p.Leu147=)
NM_001080414.4(CCDC88C):c.4425C>T (p.Asn1475=)
NM_001080414.4(CCDC88C):c.4441+12_4441+13insCAGGA
NM_001080414.4(CCDC88C):c.4441+13G>A
NM_001080414.4(CCDC88C):c.4441+15C>A
NM_001080414.4(CCDC88C):c.4441+16C>G
NM_001080414.4(CCDC88C):c.4441+16C>T
NM_001080414.4(CCDC88C):c.4441+18G>C
NM_001080414.4(CCDC88C):c.4441+8C>T
NM_001080414.4(CCDC88C):c.4441+9G>A
NM_001080414.4(CCDC88C):c.4442-14C>T
NM_001080414.4(CCDC88C):c.4442-17G>A
NM_001080414.4(CCDC88C):c.4442-18T>C
NM_001080414.4(CCDC88C):c.4442-19A>G
NM_001080414.4(CCDC88C):c.444C>T (p.Asp148=)
NM_001080414.4(CCDC88C):c.4485C>T (p.Gly1495=)
NM_001080414.4(CCDC88C):c.4488C>T (p.Ser1496=)
NM_001080414.4(CCDC88C):c.4536C>T (p.Pro1512=)
NM_001080414.4(CCDC88C):c.4539G>A (p.Ser1513=)
NM_001080414.4(CCDC88C):c.4554G>A (p.Arg1518=)
NM_001080414.4(CCDC88C):c.4563A>G (p.Ser1521=)
NM_001080414.4(CCDC88C):c.4602C>A (p.Pro1534=)
NM_001080414.4(CCDC88C):c.4605C>T (p.Ile1535=)
NM_001080414.4(CCDC88C):c.4626C>T (p.Thr1542=)
NM_001080414.4(CCDC88C):c.4630+10A>G
NM_001080414.4(CCDC88C):c.4630+12G>A
NM_001080414.4(CCDC88C):c.4630+15del
NM_001080414.4(CCDC88C):c.4631-14T>C
NM_001080414.4(CCDC88C):c.4631-18G>A
NM_001080414.4(CCDC88C):c.4631-5C>T
NM_001080414.4(CCDC88C):c.4638C>T (p.Asn1546=)
NM_001080414.4(CCDC88C):c.465C>T (p.Ile155=)
NM_001080414.4(CCDC88C):c.4662A>G (p.Pro1554=)
NM_001080414.4(CCDC88C):c.4662A>T (p.Pro1554=)
NM_001080414.4(CCDC88C):c.4665C>T (p.Ser1555=)
NM_001080414.4(CCDC88C):c.4686C>T (p.Asn1562=)
NM_001080414.4(CCDC88C):c.4699+10G>A
NM_001080414.4(CCDC88C):c.4699+19G>A
NM_001080414.4(CCDC88C):c.4699+9G>A
NM_001080414.4(CCDC88C):c.4700-11T>C
NM_001080414.4(CCDC88C):c.4700-12A>G
NM_001080414.4(CCDC88C):c.4700-13C>T
NM_001080414.4(CCDC88C):c.4700-14C>A
NM_001080414.4(CCDC88C):c.4700-15G>A
NM_001080414.4(CCDC88C):c.4700-17C>T
NM_001080414.4(CCDC88C):c.4700-19C>T
NM_001080414.4(CCDC88C):c.4700-20A>G
NM_001080414.4(CCDC88C):c.4704G>A (p.Ser1568=)
NM_001080414.4(CCDC88C):c.4710A>G (p.Pro1570=)
NM_001080414.4(CCDC88C):c.4717T>C (p.Leu1573=)
NM_001080414.4(CCDC88C):c.471C>G (p.Ala157=)
NM_001080414.4(CCDC88C):c.4725C>T (p.Ser1575=)
NM_001080414.4(CCDC88C):c.4734C>T (p.Asn1578=)
NM_001080414.4(CCDC88C):c.4746C>T (p.Asn1582=)
NM_001080414.4(CCDC88C):c.4749C>T (p.Ser1583=)
NM_001080414.4(CCDC88C):c.4768+12G>A
NM_001080414.4(CCDC88C):c.4769-11C>T
NM_001080414.4(CCDC88C):c.4769-12C>G
NM_001080414.4(CCDC88C):c.4769-17C>T
NM_001080414.4(CCDC88C):c.4776C>T (p.Ser1592=)
NM_001080414.4(CCDC88C):c.4788T>C (p.His1596=)
NM_001080414.4(CCDC88C):c.4812C>T (p.Ser1604=)
NM_001080414.4(CCDC88C):c.4827C>T (p.Pro1609=)
NM_001080414.4(CCDC88C):c.483+17G>A
NM_001080414.4(CCDC88C):c.483+17G>T
NM_001080414.4(CCDC88C):c.483+20G>C
NM_001080414.4(CCDC88C):c.483+9G>A
NM_001080414.4(CCDC88C):c.4839G>A (p.Leu1613=)
NM_001080414.4(CCDC88C):c.484-12G>A
NM_001080414.4(CCDC88C):c.484-13T>C
NM_001080414.4(CCDC88C):c.484-15C>T
NM_001080414.4(CCDC88C):c.484-17G>T
NM_001080414.4(CCDC88C):c.484-18T>G
NM_001080414.4(CCDC88C):c.484-8G>C
NM_001080414.4(CCDC88C):c.4866A>G (p.Thr1622=)
NM_001080414.4(CCDC88C):c.4866A>T (p.Thr1622=)
NM_001080414.4(CCDC88C):c.4869G>A (p.Pro1623=)
NM_001080414.4(CCDC88C):c.4884C>T (p.Leu1628=)
NM_001080414.4(CCDC88C):c.4889G>T (p.Arg1630Leu)
NM_001080414.4(CCDC88C):c.4893C>T (p.His1631=)
NM_001080414.4(CCDC88C):c.4911G>A (p.Arg1637=)
NM_001080414.4(CCDC88C):c.4914C>T (p.Asn1638=)
NM_001080414.4(CCDC88C):c.4929G>A (p.Gln1643=)
NM_001080414.4(CCDC88C):c.4932G>A (p.Glu1644=)
NM_001080414.4(CCDC88C):c.4956C>G (p.Ala1652=)
NM_001080414.4(CCDC88C):c.4959T>C (p.Pro1653=)
NM_001080414.4(CCDC88C):c.4962C>T (p.Pro1654=)
NM_001080414.4(CCDC88C):c.4965C>T (p.Tyr1655=)
NM_001080414.4(CCDC88C):c.4968C>T (p.Val1656=)
NM_001080414.4(CCDC88C):c.4986G>A (p.Ser1662=)
NM_001080414.4(CCDC88C):c.498A>G (p.Gln166=)
NM_001080414.4(CCDC88C):c.4992C>A (p.Ser1664=)
NM_001080414.4(CCDC88C):c.4992C>T (p.Ser1664=)
NM_001080414.4(CCDC88C):c.4995C>T (p.Pro1665=)
NM_001080414.4(CCDC88C):c.4998C>T (p.Ser1666=)
NM_001080414.4(CCDC88C):c.5016G>A (p.Leu1672=)
NM_001080414.4(CCDC88C):c.5031G>A (p.Glu1677=)
NM_001080414.4(CCDC88C):c.5034G>A (p.Glu1678=)
NM_001080414.4(CCDC88C):c.5040C>T (p.Asn1680=)
NM_001080414.4(CCDC88C):c.5049C>T (p.Ser1683=)
NM_001080414.4(CCDC88C):c.5058+11C>T
NM_001080414.4(CCDC88C):c.5058+12G>A
NM_001080414.4(CCDC88C):c.5058+12G>C
NM_001080414.4(CCDC88C):c.5058+17C>T
NM_001080414.4(CCDC88C):c.5058+18G>A
NM_001080414.4(CCDC88C):c.5058+19G>C
NM_001080414.4(CCDC88C):c.5058+20A>G
NM_001080414.4(CCDC88C):c.5059-10T>C
NM_001080414.4(CCDC88C):c.5059-11C>T
NM_001080414.4(CCDC88C):c.5059-11del
NM_001080414.4(CCDC88C):c.5059-12T>A
NM_001080414.4(CCDC88C):c.5059-12T>G
NM_001080414.4(CCDC88C):c.5059-13C>T
NM_001080414.4(CCDC88C):c.5059-15CT[2]
NM_001080414.4(CCDC88C):c.5059-34_5059-16dup
NM_001080414.4(CCDC88C):c.5059-4G>C
NM_001080414.4(CCDC88C):c.5059-5C>T
NM_001080414.4(CCDC88C):c.5059-5_5059-4insT
NM_001080414.4(CCDC88C):c.5067C>A (p.Pro1689=)
NM_001080414.4(CCDC88C):c.5076G>A (p.Arg1692=)
NM_001080414.4(CCDC88C):c.5086C>T (p.Leu1696=)
NM_001080414.4(CCDC88C):c.5090G>A (p.Ser1697Asn)
NM_001080414.4(CCDC88C):c.5106G>A (p.Lys1702=)
NM_001080414.4(CCDC88C):c.5127C>T (p.Ile1709=)
NM_001080414.4(CCDC88C):c.5145A>C (p.Pro1715=)
NM_001080414.4(CCDC88C):c.5151C>T (p.Ala1717=)
NM_001080414.4(CCDC88C):c.5161G>A (p.Gly1721Arg)
NM_001080414.4(CCDC88C):c.5163G>A (p.Gly1721=)
NM_001080414.4(CCDC88C):c.5181C>T (p.Asn1727=)
NM_001080414.4(CCDC88C):c.5193C>T (p.Pro1731=)
NM_001080414.4(CCDC88C):c.5196C>T (p.Thr1732=)
NM_001080414.4(CCDC88C):c.5197G>A (p.Val1733Ile)
NM_001080414.4(CCDC88C):c.5208C>T (p.Ala1736=)
NM_001080414.4(CCDC88C):c.5217C>A (p.Thr1739=)
NM_001080414.4(CCDC88C):c.5220G>A (p.Ser1740=)
NM_001080414.4(CCDC88C):c.5232G>A (p.Pro1744=)
NM_001080414.4(CCDC88C):c.5241C>G (p.Pro1747=)
NM_001080414.4(CCDC88C):c.5241C>T (p.Pro1747=)
NM_001080414.4(CCDC88C):c.5253A>G (p.Val1751=)
NM_001080414.4(CCDC88C):c.5265C>T (p.Phe1755=)
NM_001080414.4(CCDC88C):c.5271G>A (p.Leu1757=)
NM_001080414.4(CCDC88C):c.5280C>G (p.Ala1760=)
NM_001080414.4(CCDC88C):c.5280C>T (p.Ala1760=)
NM_001080414.4(CCDC88C):c.5292C>T (p.Pro1764=)
NM_001080414.4(CCDC88C):c.5295C>T (p.Ser1765=)
NM_001080414.4(CCDC88C):c.5304G>A (p.Pro1768=)
NM_001080414.4(CCDC88C):c.5322C>T (p.Pro1774=)
NM_001080414.4(CCDC88C):c.5331G>A (p.Leu1777=)
NM_001080414.4(CCDC88C):c.5334T>C (p.Ser1778=)
NM_001080414.4(CCDC88C):c.5337G>A (p.Leu1779=)
NM_001080414.4(CCDC88C):c.5358G>A (p.Pro1786=)
NM_001080414.4(CCDC88C):c.537C>T (p.Asp179=)
NM_001080414.4(CCDC88C):c.5401T>C (p.Leu1801=)
NM_001080414.4(CCDC88C):c.5412C>G (p.Ala1804=)
NM_001080414.4(CCDC88C):c.5424C>T (p.Ala1808=)
NM_001080414.4(CCDC88C):c.5439C>T (p.Leu1813=)
NM_001080414.4(CCDC88C):c.5445C>A (p.Ala1815=)
NM_001080414.4(CCDC88C):c.5448C>T (p.Ser1816=)
NM_001080414.4(CCDC88C):c.5460C>T (p.Ala1820=)
NM_001080414.4(CCDC88C):c.546G>A (p.Pro182=)
NM_001080414.4(CCDC88C):c.546G>C (p.Pro182=)
NM_001080414.4(CCDC88C):c.5484G>A (p.Lys1828=)
NM_001080414.4(CCDC88C):c.5511C>T (p.Gly1837=)
NM_001080414.4(CCDC88C):c.5535G>A (p.Leu1845=)
NM_001080414.4(CCDC88C):c.5544C>T (p.Pro1848=)
NM_001080414.4(CCDC88C):c.5547A>G (p.Ala1849=)
NM_001080414.4(CCDC88C):c.5553C>A (p.Pro1851=)
NM_001080414.4(CCDC88C):c.5577G>A (p.Glu1859=)
NM_001080414.4(CCDC88C):c.5578C>T (p.Arg1860Trp)
NM_001080414.4(CCDC88C):c.5583C>T (p.Thr1861=)
NM_001080414.4(CCDC88C):c.558G>A (p.Glu186=)
NM_001080414.4(CCDC88C):c.5592G>A (p.Val1864=)
NM_001080414.4(CCDC88C):c.5601T>C (p.Ala1867=)
NM_001080414.4(CCDC88C):c.5619C>T (p.Gly1873=)
NM_001080414.4(CCDC88C):c.5631C>A (p.Arg1877=)
NM_001080414.4(CCDC88C):c.5640G>A (p.Pro1880=)
NM_001080414.4(CCDC88C):c.5649G>A (p.Thr1883=)
NM_001080414.4(CCDC88C):c.5661C>A (p.Ser1887=)
NM_001080414.4(CCDC88C):c.5662C>T (p.Leu1888=)
NM_001080414.4(CCDC88C):c.5676G>A (p.Lys1892=)
NM_001080414.4(CCDC88C):c.567G>A (p.Ser189=)
NM_001080414.4(CCDC88C):c.5688G>A (p.Leu1896=)
NM_001080414.4(CCDC88C):c.5694C>A (p.Pro1898=)
NM_001080414.4(CCDC88C):c.5694C>G (p.Pro1898=)
NM_001080414.4(CCDC88C):c.5709C>T (p.Ala1903=)
NM_001080414.4(CCDC88C):c.5718C>G (p.Pro1906=)
NM_001080414.4(CCDC88C):c.5718C>T (p.Pro1906=)
NM_001080414.4(CCDC88C):c.5757C>T (p.Gly1919=)
NM_001080414.4(CCDC88C):c.5772C>T (p.Ser1924=)
NM_001080414.4(CCDC88C):c.5778C>G (p.Leu1926=)
NM_001080414.4(CCDC88C):c.5787C>T (p.Phe1929=)
NM_001080414.4(CCDC88C):c.5799A>C (p.Ala1933=)
NM_001080414.4(CCDC88C):c.5802C>T (p.Ala1934=)
NM_001080414.4(CCDC88C):c.5805G>C (p.Pro1935=)
NM_001080414.4(CCDC88C):c.5811C>T (p.Ala1937=)
NM_001080414.4(CCDC88C):c.5817C>T (p.Thr1939=)
NM_001080414.4(CCDC88C):c.5829G>A (p.Ala1943=)
NM_001080414.4(CCDC88C):c.5829G>T (p.Ala1943=)
NM_001080414.4(CCDC88C):c.5841A>G (p.Ser1947=)
NM_001080414.4(CCDC88C):c.585C>T (p.His195=)
NM_001080414.4(CCDC88C):c.586C>T (p.Leu196=)
NM_001080414.4(CCDC88C):c.5877G>A (p.Gly1959=)
NM_001080414.4(CCDC88C):c.5898C>T (p.Asp1966=)
NM_001080414.4(CCDC88C):c.5904C>T (p.Val1968=)
NM_001080414.4(CCDC88C):c.5907G>A (p.Pro1969=)
NM_001080414.4(CCDC88C):c.5916C>A (p.Gly1972=)
NM_001080414.4(CCDC88C):c.5925G>A (p.Glu1975=)
NM_001080414.4(CCDC88C):c.5928G>A (p.Gly1976=)
NM_001080414.4(CCDC88C):c.5934G>C (p.Pro1978=)
NM_001080414.4(CCDC88C):c.5958C>T (p.Pro1986=)
NM_001080414.4(CCDC88C):c.5970C>A (p.Pro1990=)
NM_001080414.4(CCDC88C):c.5970C>T (p.Pro1990=)
NM_001080414.4(CCDC88C):c.5975_5976delinsCG (p.Leu1992Pro)
NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro) rs1555413299
NM_001080414.4(CCDC88C):c.597C>T (p.Leu199=)
NM_001080414.4(CCDC88C):c.5980C>A (p.Arg1994=)
NM_001080414.4(CCDC88C):c.5981G>T (p.Arg1994Leu)
NM_001080414.4(CCDC88C):c.5988G>A (p.Leu1996=)
NM_001080414.4(CCDC88C):c.5997C>T (p.Cys1999=)
NM_001080414.4(CCDC88C):c.6009C>T (p.Ser2003=)
NM_001080414.4(CCDC88C):c.600C>T (p.Ile200=)
NM_001080414.4(CCDC88C):c.6012C>A (p.Val2004=)
NM_001080414.4(CCDC88C):c.6018G>A (p.Lys2006=)
NM_001080414.4(CCDC88C):c.6036G>A (p.Pro2012=)
NM_001080414.4(CCDC88C):c.6042C>T (p.Pro2014=)
NM_001080414.4(CCDC88C):c.6045C>G (p.Gly2015=)
NM_001080414.4(CCDC88C):c.6045C>T (p.Gly2015=)
NM_001080414.4(CCDC88C):c.6054G>A (p.Pro2018=)
NM_001080414.4(CCDC88C):c.6054G>T (p.Pro2018=)
NM_001080414.4(CCDC88C):c.6060C>T (p.Thr2020=)
NM_001080414.4(CCDC88C):c.606G>A (p.Gln202=)
NM_001080414.4(CCDC88C):c.6075C>T (p.Tyr2025=)
NM_001080414.4(CCDC88C):c.6078C>T (p.Gly2026=)
NM_001080414.4(CCDC88C):c.6081T>C (p.Cys2027=)
NM_001080414.4(CCDC88C):c.61-10C>A
NM_001080414.4(CCDC88C):c.61-14C>G
NM_001080414.4(CCDC88C):c.61-16G>A
NM_001080414.4(CCDC88C):c.61-16G>T
NM_001080414.4(CCDC88C):c.61-5C>G
NM_001080414.4(CCDC88C):c.61-5C>T
NM_001080414.4(CCDC88C):c.61-8C>G
NM_001080414.4(CCDC88C):c.61-8C>T
NM_001080414.4(CCDC88C):c.612C>T (p.Asp204=)
NM_001080414.4(CCDC88C):c.624+10C>T
NM_001080414.4(CCDC88C):c.624+8C>T
NM_001080414.4(CCDC88C):c.624+9G>A
NM_001080414.4(CCDC88C):c.625-10C>T
NM_001080414.4(CCDC88C):c.625-11C>T
NM_001080414.4(CCDC88C):c.625-14C>A
NM_001080414.4(CCDC88C):c.625-14C>T
NM_001080414.4(CCDC88C):c.625-16C>T
NM_001080414.4(CCDC88C):c.625-17T>C
NM_001080414.4(CCDC88C):c.625-18C>G
NM_001080414.4(CCDC88C):c.625-18C>T
NM_001080414.4(CCDC88C):c.625-18CT[2]
NM_001080414.4(CCDC88C):c.625-19C>G
NM_001080414.4(CCDC88C):c.625-20C>T
NM_001080414.4(CCDC88C):c.625-9C>G
NM_001080414.4(CCDC88C):c.625-9C>T
NM_001080414.4(CCDC88C):c.630C>T (p.Ile210=)
NM_001080414.4(CCDC88C):c.633G>A (p.Val211=)
NM_001080414.4(CCDC88C):c.654C>T (p.Asp218=)
NM_001080414.4(CCDC88C):c.663G>A (p.Gln221=)
NM_001080414.4(CCDC88C):c.696C>G (p.Ser232=)
NM_001080414.4(CCDC88C):c.720C>T (p.Pro240=)
NM_001080414.4(CCDC88C):c.738C>T (p.Ser246=)
NM_001080414.4(CCDC88C):c.756G>A (p.Leu252=)
NM_001080414.4(CCDC88C):c.768G>A (p.Leu256=)
NM_001080414.4(CCDC88C):c.771C>T (p.Ala257=)
NM_001080414.4(CCDC88C):c.783C>G (p.Ala261=)
NM_001080414.4(CCDC88C):c.78G>T (p.Pro26=)
NM_001080414.4(CCDC88C):c.795C>T (p.Arg265=)
NM_001080414.4(CCDC88C):c.809+10C>T
NM_001080414.4(CCDC88C):c.809+14T>C
NM_001080414.4(CCDC88C):c.809+18T>G
NM_001080414.4(CCDC88C):c.809+19C>T
NM_001080414.4(CCDC88C):c.809+20T>G
NM_001080414.4(CCDC88C):c.810-14T>A
NM_001080414.4(CCDC88C):c.810-17C>T
NM_001080414.4(CCDC88C):c.810-8C>T
NM_001080414.4(CCDC88C):c.825G>A (p.Glu275=)
NM_001080414.4(CCDC88C):c.834G>A (p.Val278=)
NM_001080414.4(CCDC88C):c.852G>A (p.Val284=)
NM_001080414.4(CCDC88C):c.858G>A (p.Gln286=)
NM_001080414.4(CCDC88C):c.867G>A (p.Leu289=)
NM_001080414.4(CCDC88C):c.873G>A (p.Leu291=)
NM_001080414.4(CCDC88C):c.87C>T (p.Ser29=)
NM_001080414.4(CCDC88C):c.891+10G>A
NM_001080414.4(CCDC88C):c.891+11G>A
NM_001080414.4(CCDC88C):c.891+11G>T
NM_001080414.4(CCDC88C):c.891+17A>T
NM_001080414.4(CCDC88C):c.891+7C>A
NM_001080414.4(CCDC88C):c.891+9G>A
NM_001080414.4(CCDC88C):c.892-18C>T
NM_001080414.4(CCDC88C):c.892-7C>G
NM_001080414.4(CCDC88C):c.909A>G (p.Ala303=)
NM_001080414.4(CCDC88C):c.90C>T (p.Gly30=)
NM_001080414.4(CCDC88C):c.915C>T (p.Ala305=)
NM_001080414.4(CCDC88C):c.916C>A (p.Arg306=)
NM_001080414.4(CCDC88C):c.927T>C (p.Arg309=)
NM_001080414.4(CCDC88C):c.934C>A (p.Arg312=)
NM_001080414.4(CCDC88C):c.936A>G (p.Arg312=)
NM_001080414.4(CCDC88C):c.939C>T (p.Asp313=)
NM_001080414.4(CCDC88C):c.954G>A (p.Leu318=)
NM_001080414.4(CCDC88C):c.955C>A (p.Arg319=)
NM_001080414.4(CCDC88C):c.966G>A (p.Ala322=)
NM_001080414.4(CCDC88C):c.973G>T (p.Val325Leu)
NM_001080414.4(CCDC88C):c.982C>T (p.Leu328=)
NM_001080414.4(CCDC88C):c.994C>T (p.Leu332=)
NM_001080414.4(CCDC88C):c.996G>C (p.Leu332=)

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