ClinVar Miner

List of variants studied for Congenital myasthenic syndrome 5 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 381
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HGVS dbSNP gnomAD frequency
NM_005677.4(COLQ):c.815-1064G>A rs7620149 0.46664
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly) rs6782980 0.05224
NM_005677.4(COLQ):c.366+7A>G rs750387 0.04329
NM_005677.4(COLQ):c.556-15A>G rs57376327 0.02543
NM_005677.4(COLQ):c.1248C>T (p.Asp416=) rs55866379 0.02373
NM_005677.4(COLQ):c.291G>A (p.Ser97=) rs115201284 0.00908
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn) rs116373583 0.00649
NM_005677.4(COLQ):c.393+11C>T rs909353 0.00630
NM_005677.4(COLQ):c.789G>A (p.Pro263=) rs150061580 0.00251
NM_005677.4(COLQ):c.107-19G>A rs200529572 0.00141
NM_005677.4(COLQ):c.23C>G (p.Thr8Ser) rs189427175 0.00131
NM_005677.4(COLQ):c.106+6T>C rs201376373 0.00119
NM_005677.4(COLQ):c.922G>A (p.Val308Met) rs184245561 0.00093
NM_005677.4(COLQ):c.72G>A (p.Pro24=) rs111339593 0.00080
NM_005677.4(COLQ):c.1277C>A (p.Thr426Lys) rs536042715 0.00052
NM_005677.4(COLQ):c.167C>T (p.Pro56Leu) rs768517440 0.00051
NM_005677.4(COLQ):c.1074+4C>T rs201227079 0.00041
NM_005677.4(COLQ):c.242A>G (p.Asn81Ser) rs777215134 0.00038
NM_005677.4(COLQ):c.391A>G (p.Lys131Glu) rs142980906 0.00034
NM_005677.4(COLQ):c.561C>T (p.Ser187=) rs149370622 0.00034
NM_005677.4(COLQ):c.300C>T (p.Ser100=) rs2305611 0.00026
NM_005677.4(COLQ):c.737G>C (p.Gly246Ala) rs146687198 0.00023
NM_005677.4(COLQ):c.1081C>T (p.Pro361Ser) rs116828761 0.00021
NM_005677.4(COLQ):c.1161C>T (p.Asp387=) rs539100854 0.00021
NM_005677.4(COLQ):c.438C>T (p.Ile146=) rs757867510 0.00021
NM_005677.4(COLQ):c.321+17G>A rs769285800 0.00016
NM_005677.4(COLQ):c.788C>T (p.Pro263Leu) rs146619514 0.00016
NM_005677.4(COLQ):c.1018C>T (p.Arg340Cys) rs138818971 0.00015
NM_005677.4(COLQ):c.1087T>C (p.Tyr363His) rs756508281 0.00013
NM_005677.4(COLQ):c.107-9263G>C rs905126365 0.00011
NM_005677.4(COLQ):c.1155G>C (p.Glu385Asp) rs116503231 0.00011
NM_005677.4(COLQ):c.621A>C (p.Gly207=) rs138830715 0.00011
NM_005677.4(COLQ):c.812C>T (p.Ala271Val) rs373735085 0.00011
NM_005677.4(COLQ):c.117C>A (p.Ser39Arg) rs138891500 0.00009
NM_005677.4(COLQ):c.246C>T (p.Leu82=) rs372432709 0.00009
NM_005677.4(COLQ):c.654A>G (p.Lys218=) rs112673051 0.00009
NM_005677.4(COLQ):c.814+11C>T rs575840341 0.00009
NM_005677.4(COLQ):c.1117G>A (p.Gly373Ser) rs202019416 0.00008
NM_005677.4(COLQ):c.367-20C>T rs371561543 0.00008
NM_005677.4(COLQ):c.367-3T>C rs368112392 0.00008
NM_005677.4(COLQ):c.61G>A (p.Val21Met) rs142115188 0.00008
NM_005677.4(COLQ):c.159G>A (p.Leu53=) rs745419074 0.00007
NM_005677.4(COLQ):c.366+9C>T rs778157663 0.00007
NM_005677.4(COLQ):c.1019G>A (p.Arg340His) rs375225755 0.00006
NM_005677.4(COLQ):c.1205G>A (p.Arg402His) rs140670616 0.00006
NM_005677.4(COLQ):c.1355G>A (p.Arg452His) rs754915644 0.00006
NM_005677.4(COLQ):c.393+12G>A rs372145044 0.00006
NM_005677.4(COLQ):c.707G>A (p.Arg236Gln) rs200770910 0.00006
NM_005677.4(COLQ):c.785G>A (p.Arg262His) rs201158622 0.00006
NM_005677.4(COLQ):c.912C>T (p.Tyr304=) rs886058099 0.00006
NM_005677.4(COLQ):c.944G>A (p.Arg315Gln) rs778740405 0.00006
NM_005677.4(COLQ):c.1195C>T (p.Arg399Cys) rs779594053 0.00005
NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser) rs121908923 0.00005
NM_005677.4(COLQ):c.428C>A (p.Pro143His) rs373840796 0.00005
NM_005677.4(COLQ):c.1072C>G (p.Gln358Glu) rs372064982 0.00004
NM_005677.4(COLQ):c.1164C>T (p.Asp388=) rs149852377 0.00004
NM_005677.4(COLQ):c.1196-15_1196-13del rs758190106 0.00004
NM_005677.4(COLQ):c.1282G>A (p.Glu428Lys) rs141721093 0.00004
NM_005677.4(COLQ):c.133C>T (p.Arg45Cys) rs763096476 0.00004
NM_005677.4(COLQ):c.164C>T (p.Thr55Met) rs774271810 0.00004
NM_005677.4(COLQ):c.212G>A (p.Arg71Gln) rs775959815 0.00004
NM_005677.4(COLQ):c.250C>T (p.Leu84=) rs369308750 0.00004
NM_005677.4(COLQ):c.522C>T (p.Gly174=) rs113843907 0.00004
NM_005677.4(COLQ):c.600+15C>T rs759209415 0.00004
NM_005677.4(COLQ):c.71C>T (p.Pro24Leu) rs374642884 0.00004
NM_005677.4(COLQ):c.749C>T (p.Pro250Leu) rs200479277 0.00004
NM_005677.4(COLQ):c.794C>T (p.Pro265Leu) rs1366896613 0.00004
NM_005677.4(COLQ):c.858G>T (p.Gly286=) rs756396914 0.00004
NM_005677.4(COLQ):c.1005_1008del (p.Asn335fs) rs1311078034 0.00003
NM_005677.4(COLQ):c.1224T>C (p.Gly408=) rs1297066860 0.00003
NM_005677.4(COLQ):c.1299-20C>T rs375712012 0.00003
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281 0.00003
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys) rs368932156 0.00003
NM_005677.4(COLQ):c.393+18C>T rs769699068 0.00003
NM_005677.4(COLQ):c.674G>C (p.Gly225Ala) rs780362486 0.00003
NM_005677.4(COLQ):c.815-5C>T rs771406985 0.00003
NM_005677.4(COLQ):c.1174G>A (p.Asp392Asn) rs749266800 0.00002
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp) rs139574075 0.00002
NM_005677.4(COLQ):c.1254C>T (p.Asp418=) rs777147864 0.00002
NM_005677.4(COLQ):c.1299-15C>A rs994643666 0.00002
NM_005677.4(COLQ):c.282G>A (p.Met94Ile) rs764250328 0.00002
NM_005677.4(COLQ):c.393+3A>G rs1248479113 0.00002
NM_005677.4(COLQ):c.43C>T (p.Leu15Phe) rs762844921 0.00002
NM_005677.4(COLQ):c.476G>C (p.Gly159Ala) rs748461738 0.00002
NM_005677.4(COLQ):c.484G>T (p.Gly162Cys) rs376385207 0.00002
NM_005677.4(COLQ):c.517A>G (p.Met173Val) rs750324839 0.00002
NM_005677.4(COLQ):c.555+1G>A rs769276577 0.00002
NM_005677.4(COLQ):c.555G>A (p.Lys185=) rs750472473 0.00002
NM_005677.4(COLQ):c.556-7T>C rs780166352 0.00002
NM_005677.4(COLQ):c.569A>G (p.Glu190Gly) rs377364923 0.00002
NM_005677.4(COLQ):c.680G>A (p.Arg227Gln) rs764737302 0.00002
NM_005677.4(COLQ):c.769T>G (p.Ser257Ala) rs754017581 0.00002
NM_005677.4(COLQ):c.88G>A (p.Val30Ile) rs201234648 0.00002
NM_005677.4(COLQ):c.913G>A (p.Gly305Arg) rs1553634795 0.00002
NM_005677.4(COLQ):c.942G>A (p.Pro314=) rs771944316 0.00002
NM_005677.4(COLQ):c.954+6G>A rs749018849 0.00002
NM_005677.4(COLQ):c.999C>A (p.Thr333=) rs774279832 0.00002
NM_005677.4(COLQ):c.1006G>A (p.Ala336Thr) rs1221084401 0.00001
NM_005677.4(COLQ):c.1116C>T (p.His372=) rs759169923 0.00001
NM_005677.4(COLQ):c.1185C>T (p.Asp395=) rs548322139 0.00001
NM_005677.4(COLQ):c.1195+1G>A rs755782087 0.00001
NM_005677.4(COLQ):c.1196-16C>T rs1360920116 0.00001
NM_005677.4(COLQ):c.1211A>G (p.Tyr404Cys) rs764064240 0.00001
NM_005677.4(COLQ):c.1214G>T (p.Cys405Phe) rs1336071409 0.00001
NM_005677.4(COLQ):c.1229G>A (p.Arg410Gln) rs1025361623 0.00001
NM_005677.4(COLQ):c.1281C>T (p.Cys427=) rs185829251 0.00001
NM_005677.4(COLQ):c.1299-5C>T rs1036242028 0.00001
NM_005677.4(COLQ):c.1339G>A (p.Asp447Asn) rs770753693 0.00001
NM_005677.4(COLQ):c.1346C>T (p.Thr449Met) rs1015425548 0.00001
NM_005677.4(COLQ):c.1350C>T (p.Pro450=) rs747648795 0.00001
NM_005677.4(COLQ):c.136G>A (p.Gly46Ser) rs981504781 0.00001
NM_005677.4(COLQ):c.165G>A (p.Thr55=) rs777613214 0.00001
NM_005677.4(COLQ):c.16C>T (p.Pro6Ser) rs1314591935 0.00001
NM_005677.4(COLQ):c.180A>G (p.Pro60=) rs750564606 0.00001
NM_005677.4(COLQ):c.188C>T (p.Pro63Leu) rs1553637369 0.00001
NM_005677.4(COLQ):c.19A>G (p.Met7Val) rs774887446 0.00001
NM_005677.4(COLQ):c.1A>G (p.Met1Val) rs754147251 0.00001
NM_005677.4(COLQ):c.219+1G>C rs149020371 0.00001
NM_005677.4(COLQ):c.241A>G (p.Asn81Asp) rs748826424 0.00001
NM_005677.4(COLQ):c.276G>A (p.Pro92=) rs753997328 0.00001
NM_005677.4(COLQ):c.290C>T (p.Ser97Leu) rs531584926 0.00001
NM_005677.4(COLQ):c.321+16C>T rs772748231 0.00001
NM_005677.4(COLQ):c.357G>A (p.Lys119=) rs771988325 0.00001
NM_005677.4(COLQ):c.380G>A (p.Arg127Gln) rs201856842 0.00001
NM_005677.4(COLQ):c.402T>C (p.Pro134=) rs766356664 0.00001
NM_005677.4(COLQ):c.406C>T (p.Pro136Ser) rs1039189998 0.00001
NM_005677.4(COLQ):c.432G>A (p.Gly144=) rs993225440 0.00001
NM_005677.4(COLQ):c.450C>T (p.Gly150=) rs771279997 0.00001
NM_005677.4(COLQ):c.460C>G (p.Pro154Ala) rs755848079 0.00001
NM_005677.4(COLQ):c.465+5G>T rs1384588788 0.00001
NM_005677.4(COLQ):c.466-9T>G rs930607699 0.00001
NM_005677.4(COLQ):c.473A>C (p.Lys158Thr) rs1278879838 0.00001
NM_005677.4(COLQ):c.529-10T>A rs968125549 0.00001
NM_005677.4(COLQ):c.555+5G>T rs765867687 0.00001
NM_005677.4(COLQ):c.584G>A (p.Gly195Asp) rs764640385 0.00001
NM_005677.4(COLQ):c.60C>T (p.Ile20=) rs773097270 0.00001
NM_005677.4(COLQ):c.610G>A (p.Gly204Arg) rs374783562 0.00001
NM_005677.4(COLQ):c.640G>T (p.Glu214Ter) rs104893733 0.00001
NM_005677.4(COLQ):c.679C>T (p.Arg227Ter) rs770045897 0.00001
NM_005677.4(COLQ):c.718-11C>A rs779127197 0.00001
NM_005677.4(COLQ):c.718-5G>A rs748890722 0.00001
NM_005677.4(COLQ):c.729G>A (p.Gly243=) rs941592757 0.00001
NM_005677.4(COLQ):c.784C>T (p.Arg262Cys) rs1318954229 0.00001
NM_005677.4(COLQ):c.810T>G (p.Pro270=) rs1379560902 0.00001
NM_005677.4(COLQ):c.820C>T (p.Leu274Phe) rs763262836 0.00001
NM_005677.4(COLQ):c.833C>A (p.Pro278His) rs1341977323 0.00001
NM_005677.4(COLQ):c.914G>T (p.Gly305Val) rs763518486 0.00001
NM_005677.4(COLQ):c.918A>T (p.Glu306Asp) rs765680430 0.00001
NM_005677.4(COLQ):c.941C>T (p.Pro314Leu) rs370201862 0.00001
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter) rs121908924 0.00001
NM_005677.4(COLQ):c.954+1G>A rs757060689 0.00001
NM_005677.4(COLQ):c.955-6T>C rs372534357 0.00001
NC_000003.11:g.(?_15493151)_(15563132_?)dup
NC_000003.11:g.(?_15497386)_(15498106_?)del
NC_000003.11:g.(?_15497396)_(15499842_?)del
NC_000003.12:g.(?_15451634)_(15521635_?)dup
NM_005677.4(COLQ):c.1005C>T (p.Asn335=)
NM_005677.4(COLQ):c.1016T>C (p.Phe339Ser) rs2062027386
NM_005677.4(COLQ):c.1021A>G (p.Arg341Gly) rs2062027221
NM_005677.4(COLQ):c.1026C>A (p.Asp342Glu)
NM_005677.4(COLQ):c.1026C>G (p.Asp342Glu) rs758554049
NM_005677.4(COLQ):c.1031G>A (p.Arg344Lys) rs149532541
NM_005677.4(COLQ):c.103G>A (p.Ala35Thr) rs2125197454
NM_005677.4(COLQ):c.106+11G>A
NM_005677.4(COLQ):c.106+11G>T
NM_005677.4(COLQ):c.106+18C>G
NM_005677.4(COLQ):c.106+2_106+10del
NM_005677.4(COLQ):c.106+5A>G rs755773953
NM_005677.4(COLQ):c.106+7G>T rs766993036
NM_005677.4(COLQ):c.107-1G>A rs1269227357
NM_005677.4(COLQ):c.107-20C>G
NM_005677.4(COLQ):c.107-20C>T rs757966613
NM_005677.4(COLQ):c.107-2dup rs2062631055
NM_005677.4(COLQ):c.1075-11T>G
NM_005677.4(COLQ):c.1082del (p.Pro361fs) rs769982050
NM_005677.4(COLQ):c.1085T>C (p.Phe362Ser) rs754357969
NM_005677.4(COLQ):c.1089C>T (p.Tyr363=) rs752967536
NM_005677.4(COLQ):c.1090C>G (p.Pro364Ala) rs1357228486
NM_005677.4(COLQ):c.109dup (p.Leu37fs)
NM_005677.4(COLQ):c.1102A>G (p.Thr368Ala) rs2062019023
NM_005677.4(COLQ):c.1106C>T (p.Ala369Val) rs970111842
NM_005677.4(COLQ):c.1111C>T (p.Gln371Ter) rs2125085542
NM_005677.4(COLQ):c.1129del (p.Asp377fs) rs1559511788
NM_005677.4(COLQ):c.1152G>A (p.Glu384=)
NM_005677.4(COLQ):c.1162G>A (p.Asp388Asn) rs1008156537
NM_005677.4(COLQ):c.116G>T (p.Ser39Ile) rs1289941307
NM_005677.4(COLQ):c.1172_1173delinsAG (p.Ser391Lys) rs2125085391
NM_005677.4(COLQ):c.1186G>A (p.Asp396Asn) rs748582765
NM_005677.4(COLQ):c.118del (p.Leu40fs)
NM_005677.4(COLQ):c.1195+17C>A
NM_005677.4(COLQ):c.1195+17C>T
NM_005677.4(COLQ):c.1195+2T>C rs2125085333
NM_005677.4(COLQ):c.1195C>G (p.Arg399Gly) rs779594053
NM_005677.4(COLQ):c.1196-17T>A
NM_005677.4(COLQ):c.1196-19C>A
NM_005677.4(COLQ):c.1200T>C (p.Cys400=)
NM_005677.4(COLQ):c.1209C>G (p.Ala403=)
NM_005677.4(COLQ):c.1209C>T (p.Ala403=)
NM_005677.4(COLQ):c.120G>A (p.Leu40=)
NM_005677.4(COLQ):c.1214G>C (p.Cys405Ser)
NM_005677.4(COLQ):c.1221T>C (p.Asp407=)
NM_005677.4(COLQ):c.1225dup (p.His409fs) rs1559510978
NM_005677.4(COLQ):c.1232A>G (p.His411Arg)
NM_005677.4(COLQ):c.1254C>G (p.Asp418Glu)
NM_005677.4(COLQ):c.1257C>T (p.Gly419=) rs1188131165
NM_005677.4(COLQ):c.1281C>A (p.Cys427Ter) rs185829251
NM_005677.4(COLQ):c.1298+19C>G rs1165126069
NM_005677.4(COLQ):c.1298+3A>G rs1384843815
NM_005677.4(COLQ):c.1298+7A>T
NM_005677.4(COLQ):c.1299-8T>G
NM_005677.4(COLQ):c.1299-9C>T rs1372494255
NM_005677.4(COLQ):c.1299G>A (p.Gly433=) rs754755194
NM_005677.4(COLQ):c.1307_1314del (p.Gly436fs)
NM_005677.4(COLQ):c.1313T>C (p.Leu438Pro)
NM_005677.4(COLQ):c.1318T>C (p.Cys440Arg)
NM_005677.4(COLQ):c.1323C>G (p.Thr441=)
NM_005677.4(COLQ):c.1324_1326del (p.Gln442del) rs2125077483
NM_005677.4(COLQ):c.1338C>A (p.Ile446=) rs73818504
NM_005677.4(COLQ):c.1338C>G (p.Ile446Met) rs73818504
NM_005677.4(COLQ):c.1338C>T (p.Ile446=) rs73818504
NM_005677.4(COLQ):c.1345A>G (p.Thr449Ala)
NM_005677.4(COLQ):c.1347G>A (p.Thr449=)
NM_005677.4(COLQ):c.1348C>T (p.Pro450Ser) rs2061943968
NM_005677.4(COLQ):c.134G>A (p.Arg45His) rs761717418
NM_005677.4(COLQ):c.134G>C (p.Arg45Pro) rs761717418
NM_005677.4(COLQ):c.1352G>A (p.Cys451Tyr) rs1455550822
NM_005677.4(COLQ):c.135T>C (p.Arg45=) rs551550075
NM_005677.4(COLQ):c.1366T>C (p.Ter456Arg) rs188841362
NM_005677.4(COLQ):c.140G>T (p.Gly47Val) rs1411203931
NM_005677.4(COLQ):c.141C>T (p.Gly47=)
NM_005677.4(COLQ):c.151T>C (p.Cys51Arg) rs1575483857
NM_005677.4(COLQ):c.154T>C (p.Cys52Arg) rs2062629371
NM_005677.4(COLQ):c.156C>T (p.Cys52=)
NM_005677.4(COLQ):c.157dup (p.Leu53fs) rs971863968
NM_005677.4(COLQ):c.163A>G (p.Thr55Ala)
NM_005677.4(COLQ):c.165G>C (p.Thr55=)
NM_005677.4(COLQ):c.165G>T (p.Thr55=)
NM_005677.4(COLQ):c.168T>G (p.Pro56=) rs1575483827
NM_005677.4(COLQ):c.168TCC[1] (p.Pro60del) rs753308023
NM_005677.4(COLQ):c.169C>T (p.Pro57Ser) rs2125139116
NM_005677.4(COLQ):c.175C>T (p.Pro59Ser)
NM_005677.4(COLQ):c.176C>A (p.Pro59Gln)
NM_005677.4(COLQ):c.191C>T (p.Pro64Leu) rs188737921
NM_005677.4(COLQ):c.209G>T (p.Gly70Val)
NM_005677.4(COLQ):c.219+11T>C rs2125138945
NM_005677.4(COLQ):c.220-13C>T
NM_005677.4(COLQ):c.220-19G>A
NM_005677.4(COLQ):c.235A>G (p.Met79Val)
NM_005677.4(COLQ):c.247A>G (p.Met83Val)
NM_005677.4(COLQ):c.247A>T (p.Met83Leu) rs1575482990
NM_005677.4(COLQ):c.252G>A (p.Leu84=) rs2062609459
NM_005677.4(COLQ):c.25T>C (p.Leu9=)
NM_005677.4(COLQ):c.275C>T (p.Pro92Leu) rs757464366
NM_005677.4(COLQ):c.291G>T (p.Ser97=) rs115201284
NM_005677.4(COLQ):c.292C>T (p.Leu98=)
NM_005677.4(COLQ):c.305G>A (p.Gly102Glu) rs2062606840
NM_005677.4(COLQ):c.311C>A (p.Pro104His)
NM_005677.4(COLQ):c.321+18G>C rs944034091
NM_005677.4(COLQ):c.321+7G>T
NM_005677.4(COLQ):c.322-15A>G
NM_005677.4(COLQ):c.322-16del rs772475794
NM_005677.4(COLQ):c.322-19T>C
NM_005677.4(COLQ):c.323G>A (p.Gly108Asp)
NM_005677.4(COLQ):c.342C>A (p.Gly114=)
NM_005677.4(COLQ):c.361G>T (p.Glu121Ter) rs2125123167
NM_005677.4(COLQ):c.366+15T>C
NM_005677.4(COLQ):c.366+1G>C rs2125123160
NM_005677.4(COLQ):c.367-6C>T
NM_005677.4(COLQ):c.377del (p.Gly126fs) rs759874172
NM_005677.4(COLQ):c.379C>G (p.Arg127Gly) rs143766249
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) rs143766249
NM_005677.4(COLQ):c.37C>G (p.Leu13Val) rs770933718
NM_005677.4(COLQ):c.382C>G (p.Pro128Ala)
NM_005677.4(COLQ):c.389G>A (p.Arg130Lys) rs750806839
NM_005677.4(COLQ):c.393+1G>A rs1085307792
NM_005677.4(COLQ):c.394-19T>C
NM_005677.4(COLQ):c.395G>T (p.Gly132Val) rs1272787369
NM_005677.4(COLQ):c.404G>C (p.Gly135Ala) rs1443896327
NM_005677.4(COLQ):c.405C>A (p.Gly135=) rs762810817
NM_005677.4(COLQ):c.408C>T (p.Pro136=)
NM_005677.4(COLQ):c.424A>G (p.Met142Val) rs2125119662
NM_005677.4(COLQ):c.440G>T (p.Gly147Val)
NM_005677.4(COLQ):c.462C>T (p.Pro154=) rs2062392219
NM_005677.4(COLQ):c.465+7G>T
NM_005677.4(COLQ):c.466-14T>C
NM_005677.4(COLQ):c.466-20TCT[2] rs1368152894
NM_005677.4(COLQ):c.466-4A>G
NM_005677.4(COLQ):c.466-5C>T
NM_005677.4(COLQ):c.478G>A (p.Asp160Asn)
NM_005677.4(COLQ):c.502G>T (p.Gly168Trp)
NM_005677.4(COLQ):c.518T>C (p.Met173Thr)
NM_005677.4(COLQ):c.524C>T (p.Ser175Phe) rs1310878358
NM_005677.4(COLQ):c.528+15C>G
NM_005677.4(COLQ):c.528+17A>G
NM_005677.4(COLQ):c.528+18A>G
NM_005677.4(COLQ):c.529-17C>T
NM_005677.4(COLQ):c.529-18C>A
NM_005677.4(COLQ):c.529-18C>T
NM_005677.4(COLQ):c.529-2A>G rs755236236
NM_005677.4(COLQ):c.529-4T>G
NM_005677.4(COLQ):c.54C>T (p.Leu18=)
NM_005677.4(COLQ):c.54_57del (p.Ile20fs) rs771879602
NM_005677.4(COLQ):c.555+16G>C
NM_005677.4(COLQ):c.555+5G>A rs765867687
NM_005677.4(COLQ):c.555+7G>A rs2125116104
NM_005677.4(COLQ):c.556-15A>T
NM_005677.4(COLQ):c.558A>G (p.Gly186=) rs2125115076
NM_005677.4(COLQ):c.579C>G (p.Asp193Glu) rs2062339652
NM_005677.4(COLQ):c.57dup (p.Ile20fs) rs777102590
NM_005677.4(COLQ):c.588del (p.Gly198fs) rs1559519107
NM_005677.4(COLQ):c.58A>G (p.Ile20Val) rs909968550
NM_005677.4(COLQ):c.600+18T>C rs2125114984
NM_005677.4(COLQ):c.601-12C>T
NM_005677.4(COLQ):c.601-16G>A rs762479425
NM_005677.4(COLQ):c.601-18T>C
NM_005677.4(COLQ):c.619G>A (p.Gly207Arg)
NM_005677.4(COLQ):c.631C>T (p.Gln211Ter)
NM_005677.4(COLQ):c.636+5_636+8del rs1471567316
NM_005677.4(COLQ):c.636+8A>G
NM_005677.4(COLQ):c.636+9C>A
NM_005677.4(COLQ):c.637-11C>T
NM_005677.4(COLQ):c.637-19T>A
NM_005677.4(COLQ):c.655G>A (p.Gly219Ser) rs2125109848
NM_005677.4(COLQ):c.661C>T (p.Pro221Ser) rs2062265717
NM_005677.4(COLQ):c.664G>C (p.Gly222Arg) rs1472096340
NM_005677.4(COLQ):c.674G>A (p.Gly225Glu) rs780362486
NM_005677.4(COLQ):c.682G>T (p.Gly228Ter)
NM_005677.4(COLQ):c.686C>A (p.Pro229His) rs2062264716
NM_005677.4(COLQ):c.688A>G (p.Thr230Ala)
NM_005677.4(COLQ):c.700G>T (p.Gly234Ter) rs2062264317
NM_005677.4(COLQ):c.701G>A (p.Gly234Glu)
NM_005677.4(COLQ):c.702A>C (p.Gly234=) rs2125109713
NM_005677.4(COLQ):c.70C>A (p.Pro24Thr)
NM_005677.4(COLQ):c.717+16C>A
NM_005677.4(COLQ):c.717+4A>C rs201550931
NM_005677.4(COLQ):c.717+9C>T
NM_005677.4(COLQ):c.718-14T>C
NM_005677.4(COLQ):c.718-17G>A
NM_005677.4(COLQ):c.718-1G>T
NM_005677.4(COLQ):c.718-9C>T rs756975517
NM_005677.4(COLQ):c.718G>T (p.Gly240Ter) rs104893735
NM_005677.4(COLQ):c.729G>C (p.Gly243=)
NM_005677.4(COLQ):c.72G>T (p.Pro24=)
NM_005677.4(COLQ):c.759G>A (p.Lys253=)
NM_005677.4(COLQ):c.768T>C (p.Pro256=)
NM_005677.4(COLQ):c.769dup (p.Ser257fs) rs2062200939
NM_005677.4(COLQ):c.77T>C (p.Phe26Ser) rs2063138065
NM_005677.4(COLQ):c.783C>A (p.Gly261=)
NM_005677.4(COLQ):c.783C>G (p.Gly261=) rs745798750
NM_005677.4(COLQ):c.788dup (p.Pro265fs) rs759911990
NM_005677.4(COLQ):c.792G>T (p.Gly264=) rs1302815595
NM_005677.4(COLQ):c.798A>T (p.Pro266=)
NM_005677.4(COLQ):c.798del (p.Gly267fs) rs2125103406
NM_005677.4(COLQ):c.804C>T (p.Pro268=)
NM_005677.4(COLQ):c.814+12A>G
NM_005677.4(COLQ):c.814+12dup
NM_005677.4(COLQ):c.814+13C>T
NM_005677.4(COLQ):c.814+2T>C rs1002244829
NM_005677.4(COLQ):c.815-1064del
NM_005677.4(COLQ):c.823A>G (p.Ile275Val)
NM_005677.4(COLQ):c.824del (p.Ile275fs)
NM_005677.4(COLQ):c.833C>G (p.Pro278Arg) rs1341977323
NM_005677.4(COLQ):c.844A>T (p.Arg282Ter) rs121908922
NM_005677.4(COLQ):c.847G>T (p.Gly283Ter)
NM_005677.4(COLQ):c.855C>A (p.Pro285=)
NM_005677.4(COLQ):c.855C>T (p.Pro285=) rs758307097
NM_005677.4(COLQ):c.856G>A (p.Gly286Arg)
NM_005677.4(COLQ):c.859C>T (p.Pro287Ser) rs2125089134
NM_005677.4(COLQ):c.871T>G (p.Cys291Gly)
NM_005677.4(COLQ):c.874C>T (p.Leu292Phe) rs2062053361
NM_005677.4(COLQ):c.87C>T (p.Ser29=)
NM_005677.4(COLQ):c.889A>G (p.Met297Val)
NM_005677.4(COLQ):c.893del (p.Asn298fs) rs2125089093
NM_005677.4(COLQ):c.903C>A (p.Asn301Lys) rs1055184620
NM_005677.4(COLQ):c.905C>T (p.Pro302Leu)
NM_005677.4(COLQ):c.924G>A (p.Val308=)
NM_005677.4(COLQ):c.955-2A>T rs1172409117
NM_005677.4(COLQ):c.955-7C>G rs762298520
NM_005677.4(COLQ):c.955-9C>T
NM_005677.4(COLQ):c.970A>C (p.Asn324His) rs201036462
NM_005677.4(COLQ):c.987G>C (p.Glu329Asp) rs758991725

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