ClinVar Miner

List of variants in gene DRC1 studied for Primary ciliary dyskinesia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 385
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HGVS dbSNP gnomAD frequency
NM_145038.5(DRC1):c.1195T>C (p.Trp399Arg) rs939820 0.99790
NM_145038.5(DRC1):c.1824= (p.Glu608=) rs1402962 0.99477
NM_145038.5(DRC1):c.1397-15A>G rs4072407 0.66267
NM_145038.5(DRC1):c.1069A>G (p.Lys357Glu) rs3795958 0.14109
NM_145038.5(DRC1):c.2105G>T (p.Ser702Ile) rs3172008 0.12020
NM_145038.5(DRC1):c.1897G>T (p.Val633Phe) rs12623642 0.08537
NM_145038.5(DRC1):c.2200G>A (p.Val734Met) rs35313480 0.04151
NM_145038.5(DRC1):c.172T>C (p.Tyr58His) rs74936036 0.02281
NM_145038.5(DRC1):c.540+12G>A rs79594098 0.01853
NM_145038.5(DRC1):c.1710G>A (p.Ala570=) rs76446726 0.01772
NM_145038.5(DRC1):c.2147A>C (p.Gln716Pro) rs115095929 0.01753
NM_145038.5(DRC1):c.2001A>G (p.Thr667=) rs116119084 0.01587
NM_145038.5(DRC1):c.1359C>T (p.Ser453=) rs77226260 0.01451
NM_145038.5(DRC1):c.36G>C (p.Pro12=) rs116549039 0.00942
NM_145038.5(DRC1):c.992C>T (p.Thr331Ile) rs143181834 0.00771
NM_145038.5(DRC1):c.1824G>A (p.Glu608=) rs1402962 0.00567
NM_145038.5(DRC1):c.1067C>T (p.Ala356Val) rs78892546 0.00566
NM_145038.5(DRC1):c.1976C>T (p.Ser659Leu) rs79027679 0.00340
NM_145038.5(DRC1):c.909G>T (p.Gln303His) rs139352961 0.00326
NM_145038.5(DRC1):c.1492C>G (p.Leu498Val) rs143980408 0.00297
NM_145038.5(DRC1):c.2070C>T (p.Val690=) rs114106015 0.00273
NM_145038.5(DRC1):c.2166+16_2166+17insA rs546596010 0.00247
NM_145038.5(DRC1):c.1692C>T (p.Ile564=) rs150385105 0.00177
NM_145038.5(DRC1):c.2223A>C (p.Ter741Cys) rs151184011 0.00149
NM_145038.5(DRC1):c.1851C>G (p.Pro617=) rs200824609 0.00133
NM_145038.5(DRC1):c.2021A>T (p.Gln674Leu) rs202097155 0.00123
NM_145038.5(DRC1):c.2166+6C>T rs201547851 0.00105
NM_145038.5(DRC1):c.1093G>A (p.Glu365Lys) rs35094910 0.00082
NM_145038.5(DRC1):c.1750T>A (p.Ser584Thr) rs147712523 0.00078
NM_145038.5(DRC1):c.1581G>T (p.Arg527Ser) rs145400360 0.00069
NM_145038.5(DRC1):c.2122A>C (p.Asn708His) rs147970345 0.00069
NM_145038.5(DRC1):c.1510-6C>A rs201815519 0.00053
NM_145038.5(DRC1):c.98A>G (p.Gln33Arg) rs200121746 0.00050
NM_145038.5(DRC1):c.1172C>T (p.Ala391Val) rs148372110 0.00048
NM_145038.5(DRC1):c.1509+15G>A rs558819282 0.00046
NM_145038.5(DRC1):c.1840C>G (p.Pro614Ala) rs372284377 0.00045
NM_145038.5(DRC1):c.402C>T (p.Phe134=) rs200560247 0.00038
NM_145038.5(DRC1):c.1420G>A (p.Ala474Thr) rs145706376 0.00036
NM_145038.5(DRC1):c.2075C>G (p.Thr692Ser) rs201260214 0.00034
NM_145038.5(DRC1):c.1418C>T (p.Ala473Val) rs199574440 0.00033
NM_145038.5(DRC1):c.2076C>T (p.Thr692=) rs141191674 0.00032
NM_145038.5(DRC1):c.1399G>C (p.Glu467Gln) rs149007147 0.00029
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00029
NM_145038.5(DRC1):c.421T>G (p.Trp141Gly) rs139583194 0.00025
NM_145038.5(DRC1):c.990C>T (p.Ser330=) rs149344139 0.00023
NM_145038.5(DRC1):c.1247C>G (p.Ala416Gly) rs202052258 0.00022
NM_145038.5(DRC1):c.1519A>C (p.Ile507Leu) rs188055173 0.00022
NM_145038.5(DRC1):c.215G>C (p.Ser72Thr) rs149398412 0.00022
NM_145038.5(DRC1):c.2139G>A (p.Ala713=) rs139421793 0.00021
NM_145038.5(DRC1):c.26C>T (p.Ala9Val) rs146049908 0.00021
NM_145038.5(DRC1):c.655C>T (p.Arg219Cys) rs577516330 0.00021
NM_145038.5(DRC1):c.1124G>A (p.Arg375His) rs141347582 0.00018
NM_145038.5(DRC1):c.2166+9C>T rs373951532 0.00017
NM_145038.5(DRC1):c.1186G>A (p.Glu396Lys) rs774466512 0.00016
NM_145038.5(DRC1):c.1974C>G (p.Asp658Glu) rs140913454 0.00015
NM_145038.5(DRC1):c.1725G>A (p.Ala575=) rs776929224 0.00014
NM_145038.5(DRC1):c.1913A>C (p.Lys638Thr) rs142671417 0.00014
NM_145038.5(DRC1):c.675T>C (p.Ile225=) rs149032953 0.00014
NM_145038.5(DRC1):c.1724C>T (p.Ala575Val) rs149284367 0.00013
NM_145038.5(DRC1):c.1390C>T (p.Arg464Cys) rs377330459 0.00010
NM_145038.5(DRC1):c.1397-11C>T rs765043642 0.00010
NM_145038.5(DRC1):c.2166+7G>A rs138078589 0.00010
NM_145038.5(DRC1):c.1868A>G (p.Asn623Ser) rs573043964 0.00009
NM_145038.5(DRC1):c.2069T>C (p.Val690Ala) rs199858918 0.00009
NM_145038.5(DRC1):c.617G>A (p.Arg206Gln) rs141540461 0.00009
NM_145038.5(DRC1):c.1425G>A (p.Ala475=) rs150563278 0.00008
NM_145038.5(DRC1):c.1358C>G (p.Ser453Cys) rs780100027 0.00007
NM_145038.5(DRC1):c.155+11G>A rs773150423 0.00007
NM_145038.5(DRC1):c.1598C>T (p.Ser533Phe) rs752379921 0.00007
NM_145038.5(DRC1):c.1775C>T (p.Thr592Met) rs144885892 0.00007
NM_145038.5(DRC1):c.1965C>T (p.Asn655=) rs201930229 0.00007
NM_145038.5(DRC1):c.1112C>T (p.Ser371Leu) rs368859380 0.00006
NM_145038.5(DRC1):c.1123C>T (p.Arg375Cys) rs145305515 0.00006
NM_145038.5(DRC1):c.1164-19C>G rs370699771 0.00006
NM_145038.5(DRC1):c.1238T>C (p.Ile413Thr) rs551640350 0.00006
NM_145038.5(DRC1):c.330C>T (p.Val110=) rs146060843 0.00006
NM_145038.5(DRC1):c.679-4G>A rs762632039 0.00006
NM_145038.5(DRC1):c.749C>T (p.Ala250Val) rs138374268 0.00006
NM_145038.5(DRC1):c.1509+17G>A rs377178663 0.00005
NM_145038.5(DRC1):c.15G>A (p.Gly5=) rs746939507 0.00005
NM_145038.5(DRC1):c.2064-18C>T rs375821474 0.00005
NM_145038.5(DRC1):c.270C>T (p.Gly90=) rs572607941 0.00005
NM_145038.5(DRC1):c.57C>T (p.Ser19=) rs141160156 0.00005
NM_145038.5(DRC1):c.994G>C (p.Val332Leu) rs367682395 0.00005
NM_145038.5(DRC1):c.1226C>T (p.Ala409Val) rs754270018 0.00004
NM_145038.5(DRC1):c.1391G>A (p.Arg464His) rs200271366 0.00004
NM_145038.5(DRC1):c.1599+1G>A rs146412095 0.00004
NM_145038.5(DRC1):c.1599C>T (p.Ser533=) rs377416255 0.00004
NM_145038.5(DRC1):c.178G>A (p.Asp60Asn) rs927792575 0.00004
NM_145038.5(DRC1):c.1926G>A (p.Ser642=) rs144870659 0.00004
NM_145038.5(DRC1):c.1944A>G (p.Val648=) rs774615084 0.00004
NM_145038.5(DRC1):c.237C>A (p.Ser79Arg) rs201097702 0.00004
NM_145038.5(DRC1):c.765+15C>T rs201801977 0.00004
NM_145038.5(DRC1):c.1028+19C>T rs758946544 0.00003
NM_145038.5(DRC1):c.1028+20G>A rs766939128 0.00003
NM_145038.5(DRC1):c.1246G>A (p.Ala416Thr) rs779720693 0.00003
NM_145038.5(DRC1):c.1264A>G (p.Ile422Val) rs369445461 0.00003
NM_145038.5(DRC1):c.1422C>T (p.Ala474=) rs977739922 0.00003
NM_145038.5(DRC1):c.1503C>T (p.Asp501=) rs139876504 0.00003
NM_145038.5(DRC1):c.1509+13G>A rs748076627 0.00003
NM_145038.5(DRC1):c.1560G>C (p.Gln520His) rs1251505912 0.00003
NM_145038.5(DRC1):c.1585G>A (p.Asp529Asn) rs201581530 0.00003
NM_145038.5(DRC1):c.1600-7G>A rs780039487 0.00003
NM_145038.5(DRC1):c.1605T>C (p.Leu535=) rs773501166 0.00003
NM_145038.5(DRC1):c.1647C>G (p.Phe549Leu) rs371052653 0.00003
NM_145038.5(DRC1):c.1690-6C>T rs745889835 0.00003
NM_145038.5(DRC1):c.1919+7T>C rs774161990 0.00003
NM_145038.5(DRC1):c.191A>G (p.Glu64Gly) rs138917435 0.00003
NM_145038.5(DRC1):c.1935G>A (p.Pro645=) rs561986345 0.00003
NM_145038.5(DRC1):c.2029T>C (p.Trp677Arg) rs765669218 0.00003
NM_145038.5(DRC1):c.2097G>A (p.Leu699=) rs200604106 0.00003
NM_145038.5(DRC1):c.2167-13C>G rs754738733 0.00003
NM_145038.5(DRC1):c.2206C>T (p.Arg736Trp) rs373441736 0.00003
NM_145038.5(DRC1):c.926A>G (p.Tyr309Cys) rs1395219877 0.00003
NM_145038.5(DRC1):c.1163+10G>A rs1285517960 0.00002
NM_145038.5(DRC1):c.1164-9C>T rs781189009 0.00002
NM_145038.5(DRC1):c.14G>A (p.Gly5Glu) rs767420758 0.00002
NM_145038.5(DRC1):c.1600-8C>T rs375365371 0.00002
NM_145038.5(DRC1):c.1639G>A (p.Val547Met) rs760306333 0.00002
NM_145038.5(DRC1):c.1669C>T (p.Arg557Cys) rs779986198 0.00002
NM_145038.5(DRC1):c.1815G>A (p.Gly605=) rs748482443 0.00002
NM_145038.5(DRC1):c.1873G>A (p.Val625Ile) rs780099607 0.00002
NM_145038.5(DRC1):c.2044A>G (p.Thr682Ala) rs772128135 0.00002
NM_145038.5(DRC1):c.2126C>T (p.Thr709Ile) rs767091604 0.00002
NM_145038.5(DRC1):c.2167-5T>C rs560788801 0.00002
NM_145038.5(DRC1):c.2207G>A (p.Arg736Gln) rs761603781 0.00002
NM_145038.5(DRC1):c.313G>A (p.Glu105Lys) rs759868480 0.00002
NM_145038.5(DRC1):c.344dup (p.Arg117fs) rs747358703 0.00002
NM_145038.5(DRC1):c.463G>A (p.Glu155Lys) rs574881831 0.00002
NM_145038.5(DRC1):c.561C>T (p.Asp187=) rs147573624 0.00002
NM_145038.5(DRC1):c.603C>T (p.Cys201=) rs773865451 0.00002
NM_145038.5(DRC1):c.765+17G>A rs934949015 0.00002
NM_145038.5(DRC1):c.87C>T (p.Ser29=) rs768704103 0.00002
NM_145038.5(DRC1):c.1028+10C>A rs1663692485 0.00001
NM_145038.5(DRC1):c.1028+12T>C rs1231547608 0.00001
NM_145038.5(DRC1):c.1028+18G>A rs372104812 0.00001
NM_145038.5(DRC1):c.1029-1G>T rs745800344 0.00001
NM_145038.5(DRC1):c.1029-7C>T rs2465427961 0.00001
NM_145038.5(DRC1):c.1082A>C (p.Gln361Pro) rs970137380 0.00001
NM_145038.5(DRC1):c.1163+15T>C rs909455212 0.00001
NM_145038.5(DRC1):c.1219G>A (p.Glu407Lys) rs1182364971 0.00001
NM_145038.5(DRC1):c.1263G>A (p.Arg421=) rs778963656 0.00001
NM_145038.5(DRC1):c.1286G>A (p.Gly429Glu) rs1663811432 0.00001
NM_145038.5(DRC1):c.1304C>T (p.Pro435Leu) rs747835380 0.00001
NM_145038.5(DRC1):c.1348C>A (p.Pro450Thr) rs1214850546 0.00001
NM_145038.5(DRC1):c.1350C>T (p.Pro450=) rs1238027745 0.00001
NM_145038.5(DRC1):c.1372G>A (p.Val458Ile) rs372422691 0.00001
NM_145038.5(DRC1):c.137G>T (p.Arg46Leu) rs745457802 0.00001
NM_145038.5(DRC1):c.1392C>T (p.Arg464=) rs759050672 0.00001
NM_145038.5(DRC1):c.1396+19T>A rs1475889353 0.00001
NM_145038.5(DRC1):c.1397-20T>G rs764148240 0.00001
NM_145038.5(DRC1):c.1424C>T (p.Ala475Val) rs200155316 0.00001
NM_145038.5(DRC1):c.1451C>T (p.Pro484Leu) rs149334724 0.00001
NM_145038.5(DRC1):c.1508C>T (p.Ser503Leu) rs779688284 0.00001
NM_145038.5(DRC1):c.1509+11G>A rs768160053 0.00001
NM_145038.5(DRC1):c.1540C>T (p.Leu514Phe) rs1663961136 0.00001
NM_145038.5(DRC1):c.1600-2A>G rs748345425 0.00001
NM_145038.5(DRC1):c.1620G>A (p.Glu540=) rs774673063 0.00001
NM_145038.5(DRC1):c.1622A>G (p.Asp541Gly) rs760087399 0.00001
NM_145038.5(DRC1):c.1643A>T (p.Asn548Ile) rs1257446687 0.00001
NM_145038.5(DRC1):c.1689+20G>A rs1663981941 0.00001
NM_145038.5(DRC1):c.1739C>A (p.Thr580Lys) rs773007219 0.00001
NM_145038.5(DRC1):c.1776G>A (p.Thr592=) rs750675673 0.00001
NM_145038.5(DRC1):c.1892C>T (p.Ala631Val) rs751715818 0.00001
NM_145038.5(DRC1):c.1900A>G (p.Met634Val) rs1297970541 0.00001
NM_145038.5(DRC1):c.1919+10G>A rs775449578 0.00001
NM_145038.5(DRC1):c.1976del (p.Ser659fs) rs772974990 0.00001
NM_145038.5(DRC1):c.1977G>A (p.Ser659=) rs368854171 0.00001
NM_145038.5(DRC1):c.1980G>A (p.Glu660=) rs758049295 0.00001
NM_145038.5(DRC1):c.2056A>G (p.Lys686Glu) rs587776997 0.00001
NM_145038.5(DRC1):c.2058G>A (p.Lys686=) rs1386352972 0.00001
NM_145038.5(DRC1):c.2064-10C>T rs201647974 0.00001
NM_145038.5(DRC1):c.2064-8G>A rs1012672985 0.00001
NM_145038.5(DRC1):c.2099A>G (p.Glu700Gly) rs1347088566 0.00001
NM_145038.5(DRC1):c.2100A>G (p.Glu700=) rs1204217245 0.00001
NM_145038.5(DRC1):c.2134C>T (p.Gln712Ter) rs763706980 0.00001
NM_145038.5(DRC1):c.244-16A>G rs1663134267 0.00001
NM_145038.5(DRC1):c.300T>C (p.Ala100=) rs1307580523 0.00001
NM_145038.5(DRC1):c.308T>C (p.Ile103Thr) rs774744171 0.00001
NM_145038.5(DRC1):c.356+8C>T rs749365742 0.00001
NM_145038.5(DRC1):c.460T>C (p.Trp154Arg) rs1167224672 0.00001
NM_145038.5(DRC1):c.46G>A (p.Glu16Lys) rs149082901 0.00001
NM_145038.5(DRC1):c.476C>T (p.Thr159Ile) rs368096684 0.00001
NM_145038.5(DRC1):c.501C>T (p.Leu167=) rs778849420 0.00001
NM_145038.5(DRC1):c.528C>T (p.Ser176=) rs780717600 0.00001
NM_145038.5(DRC1):c.541-14A>G rs1000000016 0.00001
NM_145038.5(DRC1):c.56C>T (p.Ser19Phe) rs753185786 0.00001
NM_145038.5(DRC1):c.660G>A (p.Glu220=) rs1167860486 0.00001
NM_145038.5(DRC1):c.678+17A>G rs1229896011 0.00001
NM_145038.5(DRC1):c.684A>G (p.Ala228=) rs751246954 0.00001
NM_145038.5(DRC1):c.697C>T (p.Arg233Cys) rs756180718 0.00001
NM_145038.5(DRC1):c.698G>A (p.Arg233His) rs760707903 0.00001
NM_145038.5(DRC1):c.71C>A (p.Ala24Glu) rs770464153 0.00001
NM_145038.5(DRC1):c.732G>A (p.Trp244Ter) rs371220148 0.00001
NM_145038.5(DRC1):c.74C>G (p.Pro25Arg) rs778586998 0.00001
NM_145038.5(DRC1):c.765+6G>A rs374715318 0.00001
NM_145038.5(DRC1):c.766-13C>T rs376503606 0.00001
NM_145038.5(DRC1):c.766-7C>T rs373980754 0.00001
NM_145038.5(DRC1):c.77C>G (p.Ser26Trp) rs745542616 0.00001
NM_145038.5(DRC1):c.784C>T (p.Arg262Cys) rs748399379 0.00001
NM_145038.5(DRC1):c.785G>A (p.Arg262His) rs756078948 0.00001
NM_145038.5(DRC1):c.7C>T (p.Pro3Ser) rs759091863 0.00001
NM_145038.5(DRC1):c.843C>T (p.Cys281=) rs371207623 0.00001
NM_145038.5(DRC1):c.918A>G (p.Lys306=) rs779140891 0.00001
NM_145038.5(DRC1):c.963G>T (p.Gln321His) rs747446719 0.00001
NM_145038.5(DRC1):c.972G>A (p.Lys324=) rs1663689812 0.00001
NM_145038.5(DRC1):c.996A>G (p.Val332=) rs943144910 0.00001
NC_000002.11:g.(?_26624858)_(26647342_?)del
NC_000002.11:g.(?_26644136)_(26644288_?)del
NC_000002.11:g.(?_26667070)_(26667836_?)del
NC_000002.12:g.(?_26440358)_(26444376_?)del
NM_145038.5(DRC1):c.1008G>A (p.Gln336=) rs562545293
NM_145038.5(DRC1):c.1009C>T (p.Gln337Ter) rs1435637520
NM_145038.5(DRC1):c.1013del (p.Lys338fs) rs1663691728
NM_145038.5(DRC1):c.1028+10C>G rs1663692485
NM_145038.5(DRC1):c.1028+11A>G
NM_145038.5(DRC1):c.1029-4C>G rs2148000514
NM_145038.5(DRC1):c.1029-4C>T rs2148000514
NM_145038.5(DRC1):c.1066_1067delinsAT (p.Ala356Ile) rs1572379809
NM_145038.5(DRC1):c.1068_1069inv (p.Lys357Glu)
NM_145038.5(DRC1):c.106_120dup (p.Ile36_Arg40dup) rs1678261374
NM_145038.5(DRC1):c.1090GAG[1] (p.Glu365del) rs765070685
NM_145038.5(DRC1):c.109dup (p.Gln37fs) rs750136163
NM_145038.5(DRC1):c.1110C>G (p.Thr370=) rs1375972064
NM_145038.5(DRC1):c.1123C>A (p.Arg375Ser) rs145305515
NM_145038.5(DRC1):c.1146G>A (p.Glu382=)
NM_145038.5(DRC1):c.1151A>C (p.Gln384Pro) rs1663796271
NM_145038.5(DRC1):c.115C>G (p.Arg39Gly) rs778388067
NM_145038.5(DRC1):c.1160T>G (p.Met387Arg) rs1663796438
NM_145038.5(DRC1):c.1163+20C>T
NM_145038.5(DRC1):c.1164-17G>A
NM_145038.5(DRC1):c.1164-19C>T
NM_145038.5(DRC1):c.1188G>T (p.Glu396Asp) rs374257901
NM_145038.5(DRC1):c.1195_1196inv (p.Trp399Gln)
NM_145038.5(DRC1):c.1206G>C (p.Trp402Cys) rs2465429847
NM_145038.5(DRC1):c.1207C>T (p.Leu403=) rs2465429850
NM_145038.5(DRC1):c.1221G>A (p.Glu407=) rs2465429876
NM_145038.5(DRC1):c.1263G>C (p.Arg421Ser) rs778963656
NM_145038.5(DRC1):c.1281T>C (p.His427=) rs528460521
NM_145038.5(DRC1):c.1284G>A (p.Leu428=) rs2465430179
NM_145038.5(DRC1):c.1325del (p.Asn442fs) rs1663812465
NM_145038.5(DRC1):c.1329T>C (p.Val443=) rs2465430333
NM_145038.5(DRC1):c.1338T>G (p.Ile446Met) rs150721188
NM_145038.5(DRC1):c.134C>T (p.Ala45Val) rs779282480
NM_145038.5(DRC1):c.1366C>A (p.Gln456Lys) rs777051751
NM_145038.5(DRC1):c.1369A>T (p.Ile457Leu) rs1414998432
NM_145038.5(DRC1):c.1394C>T (p.Ser465Leu)
NM_145038.5(DRC1):c.1397-16_1397-15inv
NM_145038.5(DRC1):c.1418C>A (p.Ala473Asp) rs199574440
NM_145038.5(DRC1):c.1434G>T (p.Glu478Asp) rs759743934
NM_145038.5(DRC1):c.1448T>C (p.Leu483Ser) rs1663924677
NM_145038.5(DRC1):c.1452G>A (p.Pro484=) rs1417232935
NM_145038.5(DRC1):c.145G>T (p.Ala49Ser) rs771727269
NM_145038.5(DRC1):c.1461T>C (p.Ile487=) rs1167700043
NM_145038.5(DRC1):c.1470A>G (p.Lys490=) rs752867731
NM_145038.5(DRC1):c.1471del (p.Thr491fs) rs2148003690
NM_145038.5(DRC1):c.1487T>G (p.Leu496Arg) rs2148003720
NM_145038.5(DRC1):c.148C>A (p.Arg50=)
NM_145038.5(DRC1):c.1503_1505del (p.Asp501del) rs778078856
NM_145038.5(DRC1):c.1509+10G>A rs947858109
NM_145038.5(DRC1):c.1510-18C>T
NM_145038.5(DRC1):c.1511G>A (p.Gly504Glu) rs2148004449
NM_145038.5(DRC1):c.1511_1512delinsTA (p.Gly504Val) rs2148004453
NM_145038.5(DRC1):c.1518C>T (p.Leu506=) rs764466794
NM_145038.5(DRC1):c.1524G>C (p.Glu508Asp) rs753664425
NM_145038.5(DRC1):c.153G>A (p.Arg51=) rs1572346150
NM_145038.5(DRC1):c.1548G>A (p.Leu516=)
NM_145038.5(DRC1):c.155+12G>C rs759817036
NM_145038.5(DRC1):c.1553del (p.Leu518fs)
NM_145038.5(DRC1):c.155G>T (p.Arg52Leu) rs1341994586
NM_145038.5(DRC1):c.156-7A>C rs1016897921
NM_145038.5(DRC1):c.1599+11C>T rs368679300
NM_145038.5(DRC1):c.1600-3dup rs757359333
NM_145038.5(DRC1):c.1600-5C>T
NM_145038.5(DRC1):c.1612G>A (p.Glu538Lys) rs2465444986
NM_145038.5(DRC1):c.1631A>G (p.Tyr544Cys) rs775900881
NM_145038.5(DRC1):c.1650C>T (p.Phe550=) rs1291985624
NM_145038.5(DRC1):c.1679C>T (p.Ser560Phe) rs1663980286
NM_145038.5(DRC1):c.1684C>T (p.Leu562Phe)
NM_145038.5(DRC1):c.1689+10G>A
NM_145038.5(DRC1):c.1689+11G>A rs749549034
NM_145038.5(DRC1):c.1689+12T>G rs1170750643
NM_145038.5(DRC1):c.1690-10C>T rs778847128
NM_145038.5(DRC1):c.1690-17C>G rs749441513
NM_145038.5(DRC1):c.1690-17C>T rs749441513
NM_145038.5(DRC1):c.169G>C (p.Glu57Gln) rs1311428069
NM_145038.5(DRC1):c.1720_1734del (p.Lys574_Glu578del) rs878855222
NM_145038.5(DRC1):c.1746G>C (p.Thr582=) rs148569358
NM_145038.5(DRC1):c.174T>C (p.Tyr58=) rs780737842
NM_145038.5(DRC1):c.1751C>G (p.Ser584Ter)
NM_145038.5(DRC1):c.1756T>C (p.Leu586=) rs752596409
NM_145038.5(DRC1):c.1801A>C (p.Ser601Arg) rs1664059066
NM_145038.5(DRC1):c.1816_1818del (p.Glu606del) rs2465451261
NM_145038.5(DRC1):c.1825G>A (p.Glu609Lys) rs1664060049
NM_145038.5(DRC1):c.1839C>T (p.Thr613=) rs1299185967
NM_145038.5(DRC1):c.1841C>T (p.Pro614Leu) rs1664060879
NM_145038.5(DRC1):c.1849C>T (p.Pro617Ser) rs1664062937
NM_145038.5(DRC1):c.1887G>A (p.Leu629=) rs2465451588
NM_145038.5(DRC1):c.1897G>A (p.Val633Ile) rs12623642
NM_145038.5(DRC1):c.1919G>A (p.Arg640Lys) rs1428226382
NM_145038.5(DRC1):c.1920-13T>C rs1412204139
NM_145038.5(DRC1):c.1920-14C>T rs1423875160
NM_145038.5(DRC1):c.1920-15G>A rs2465454201
NM_145038.5(DRC1):c.1920-20A>G rs749609381
NM_145038.5(DRC1):c.1925C>A (p.Ser642Ter)
NM_145038.5(DRC1):c.1927C>T (p.Arg643Trp)
NM_145038.5(DRC1):c.1935G>C (p.Pro645=) rs561986345
NM_145038.5(DRC1):c.1941G>C (p.Arg647Ser)
NM_145038.5(DRC1):c.1946A>C (p.Gln649Pro) rs1465586403
NM_145038.5(DRC1):c.1955T>G (p.Val652Gly) rs752777750
NM_145038.5(DRC1):c.1957C>T (p.Arg653Cys) rs139106371
NM_145038.5(DRC1):c.195T>C (p.Ser65=)
NM_145038.5(DRC1):c.1967C>T (p.Ser656Phe) rs2148007712
NM_145038.5(DRC1):c.2014T>C (p.Ser672Pro) rs200927965
NM_145038.5(DRC1):c.2037C>A (p.Ala679=) rs759791684
NM_145038.5(DRC1):c.2045C>T (p.Thr682Ile) rs377090460
NM_145038.5(DRC1):c.2049C>G (p.Ala683=) rs2148007800
NM_145038.5(DRC1):c.2064-17G>A rs1558457935
NM_145038.5(DRC1):c.2068G>A (p.Val690Ile) rs1553345147
NM_145038.5(DRC1):c.2079_2086del (p.Arg694fs) rs1558457993
NM_145038.5(DRC1):c.2081G>C (p.Arg694Thr) rs372797665
NM_145038.5(DRC1):c.2102A>G (p.Asn701Ser) rs1463332900
NM_145038.5(DRC1):c.2135A>G (p.Gln712Arg)
NM_145038.5(DRC1):c.2140C>A (p.Leu714Ile) rs1572389551
NM_145038.5(DRC1):c.2166+10G>T rs368470989
NM_145038.5(DRC1):c.2166+11G>T rs765196304
NM_145038.5(DRC1):c.2167-20T>A rs1344338151
NM_145038.5(DRC1):c.2167-9C>G
NM_145038.5(DRC1):c.2172C>T (p.Asn724=) rs1325850441
NM_145038.5(DRC1):c.2183A>T (p.Gln728Leu) rs2148010186
NM_145038.5(DRC1):c.218A>G (p.Tyr73Cys) rs2465359374
NM_145038.5(DRC1):c.2190_2193dup (p.Thr732fs) rs763631774
NM_145038.5(DRC1):c.2202G>T (p.Val734=) rs768929345
NM_145038.5(DRC1):c.220A>C (p.Lys74Gln) rs776739782
NM_145038.5(DRC1):c.239G>A (p.Arg80Gln) rs148643291
NM_145038.5(DRC1):c.243+10G>C rs1342111382
NM_145038.5(DRC1):c.243+9T>C rs1476611473
NM_145038.5(DRC1):c.244-14dup rs2465374776
NM_145038.5(DRC1):c.252T>C (p.Ala84=)
NM_145038.5(DRC1):c.306T>C (p.Asp102=)
NM_145038.5(DRC1):c.320A>G (p.His107Arg) rs1663137062
NM_145038.5(DRC1):c.33C>T (p.Asp11=)
NM_145038.5(DRC1):c.356+3A>G rs1572361252
NM_145038.5(DRC1):c.357-15T>A rs1188964676
NM_145038.5(DRC1):c.357-2A>G rs2465381819
NM_145038.5(DRC1):c.367C>T (p.Leu123=) rs1378377620
NM_145038.5(DRC1):c.379G>T (p.Val127Phe) rs1199545365
NM_145038.5(DRC1):c.391C>T (p.Gln131Ter) rs2465381898
NM_145038.5(DRC1):c.396C>A (p.Asp132Glu) rs770549722
NM_145038.5(DRC1):c.39C>A (p.Asn13Lys) rs757114521
NM_145038.5(DRC1):c.409A>G (p.Ile137Val) rs1333711600
NM_145038.5(DRC1):c.411C>A (p.Ile137=) rs2465381963
NM_145038.5(DRC1):c.418A>C (p.Lys140Gln) rs201245045
NM_145038.5(DRC1):c.427G>T (p.Glu143Ter) rs1663226917
NM_145038.5(DRC1):c.446T>C (p.Ile149Thr)
NM_145038.5(DRC1):c.456G>A (p.Glu152=)
NM_145038.5(DRC1):c.471C>T (p.Leu157=) rs1663228984
NM_145038.5(DRC1):c.479A>C (p.Gln160Pro) rs762794275
NM_145038.5(DRC1):c.494_495delinsTG (p.Ala165Val) rs1572363707
NM_145038.5(DRC1):c.495T>A (p.Ala165=) rs7423300
NM_145038.5(DRC1):c.495T>G (p.Ala165=) rs7423300
NM_145038.5(DRC1):c.513_515del (p.Lys171del) rs773138367
NM_145038.5(DRC1):c.537G>A (p.Gln179=) rs2147987459
NM_145038.5(DRC1):c.540+11C>T
NM_145038.5(DRC1):c.541-4C>G
NM_145038.5(DRC1):c.5A>T (p.Asn2Ile) rs2465338579
NM_145038.5(DRC1):c.616C>T (p.Arg206Trp) rs1160786100
NM_145038.5(DRC1):c.636G>A (p.Lys212=)
NM_145038.5(DRC1):c.673dup (p.Ile225fs) rs1663384249
NM_145038.5(DRC1):c.674T>A (p.Ile225Asn) rs756459461
NM_145038.5(DRC1):c.678+8G>A rs1558443964
NM_145038.5(DRC1):c.686T>C (p.Phe229Ser) rs2147991541
NM_145038.5(DRC1):c.712G>T (p.Ala238Ser) rs1663414723
NM_145038.5(DRC1):c.717T>C (p.Ser239=) rs772316882
NM_145038.5(DRC1):c.765+19C>G rs1482151091
NM_145038.5(DRC1):c.766-6C>A
NM_145038.5(DRC1):c.777T>G (p.Leu259=)
NM_145038.5(DRC1):c.793A>C (p.Lys265Gln) rs2465399324
NM_145038.5(DRC1):c.870G>A (p.Lys290=) rs765263654
NM_145038.5(DRC1):c.87C>G (p.Ser29=) rs768704103
NM_145038.5(DRC1):c.888+9G>A
NM_145038.5(DRC1):c.889-15T>C rs773063930
NM_145038.5(DRC1):c.889-9dup rs746818380
NM_145038.5(DRC1):c.985G>A (p.Glu329Lys) rs1060501406
NM_145038.5(DRC1):c.9G>T (p.Pro3=) rs950686026

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