ClinVar Miner

List of variants in gene EXTL3 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 486
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HGVS dbSNP gnomAD frequency
NM_001440.4(EXTL3):c.1227G>A (p.Pro409=) rs240951 0.24605
NM_001440.4(EXTL3):c.804G>A (p.Thr268=) rs17059326 0.01376
NM_001440.4(EXTL3):c.1324G>C (p.Val442Leu) rs116659770 0.01342
NM_001440.4(EXTL3):c.2610C>T (p.Asp870=) rs17059347 0.01133
NM_001440.4(EXTL3):c.787C>T (p.Leu263=) rs34985706 0.00751
NM_001440.4(EXTL3):c.1437C>T (p.Asn479=) rs34951507 0.00646
NM_001440.4(EXTL3):c.2148+13C>T rs114775959 0.00342
NM_001440.4(EXTL3):c.870C>T (p.Asn290=) rs36092162 0.00328
NM_001440.4(EXTL3):c.1649C>T (p.Ala550Val) rs35781576 0.00289
NM_001440.4(EXTL3):c.1875A>G (p.Ser625=) rs143652582 0.00258
NM_001440.4(EXTL3):c.2136C>T (p.Gly712=) rs151073081 0.00234
NM_001440.4(EXTL3):c.957G>A (p.Leu319=) rs112390366 0.00108
NM_001440.4(EXTL3):c.2649C>T (p.Phe883=) rs146639822 0.00094
NM_001440.4(EXTL3):c.1132C>T (p.Arg378Trp) rs138851422 0.00065
NM_001440.4(EXTL3):c.1679C>T (p.Ala560Val) rs200494893 0.00051
NM_001440.4(EXTL3):c.1116C>T (p.Pro372=) rs142915974 0.00046
NM_001440.4(EXTL3):c.138C>T (p.Ile46=) rs141531460 0.00036
NM_001440.4(EXTL3):c.1519G>T (p.Ala507Ser) rs200367738 0.00036
NM_001440.4(EXTL3):c.2340C>T (p.Ile780=) rs148404093 0.00031
NM_001440.4(EXTL3):c.1500C>A (p.Leu500=) rs367805992 0.00029
NM_001440.4(EXTL3):c.1755C>T (p.Ala585=) rs912993523 0.00021
NM_001440.4(EXTL3):c.1253G>A (p.Arg418Gln) rs138130005 0.00019
NM_001440.4(EXTL3):c.1697A>G (p.Asn566Ser) rs141817681 0.00019
NM_001440.4(EXTL3):c.234C>T (p.His78=) rs200105783 0.00019
NM_001440.4(EXTL3):c.141C>T (p.Ala47=) rs375815743 0.00018
NM_001440.4(EXTL3):c.492C>T (p.Asp164=) rs371856118 0.00018
NM_001440.4(EXTL3):c.513G>A (p.Pro171=) rs35677003 0.00017
NM_001440.4(EXTL3):c.913A>G (p.Thr305Ala) rs199831414 0.00017
NM_001440.4(EXTL3):c.1745C>T (p.Pro582Leu) rs372319537 0.00016
NM_001440.4(EXTL3):c.2277-17C>A rs369118658 0.00016
NM_001440.4(EXTL3):c.2304C>T (p.Ile768=) rs190213591 0.00016
NM_001440.4(EXTL3):c.1371C>T (p.Val457=) rs147171231 0.00015
NM_001440.4(EXTL3):c.658G>T (p.Ala220Ser) rs139144293 0.00014
NM_001440.4(EXTL3):c.838C>T (p.Arg280Cys) rs145734714 0.00013
NM_001440.4(EXTL3):c.1377C>T (p.Ala459=) rs140439239 0.00012
NM_001440.4(EXTL3):c.803C>T (p.Thr268Met) rs200615501 0.00012
NM_001440.4(EXTL3):c.2514C>T (p.Phe838=) rs765685283 0.00011
NM_001440.4(EXTL3):c.743C>T (p.Pro248Leu) rs375285295 0.00011
NM_001440.4(EXTL3):c.9C>T (p.Gly3=) rs371302609 0.00011
NM_001440.4(EXTL3):c.1315C>G (p.Pro439Ala) rs552465189 0.00010
NM_001440.4(EXTL3):c.591C>T (p.Tyr197=) rs112013792 0.00010
NM_001440.4(EXTL3):c.2551-8G>A rs538436653 0.00009
NM_001440.4(EXTL3):c.2661C>T (p.Tyr887=) rs143878878 0.00009
NM_001440.4(EXTL3):c.297G>A (p.Lys99=) rs370448870 0.00009
NM_001440.4(EXTL3):c.871G>A (p.Val291Ile) rs762247666 0.00009
NM_001440.4(EXTL3):c.1125C>T (p.Tyr375=) rs377701283 0.00008
NM_001440.4(EXTL3):c.1378G>A (p.Val460Ile) rs370924429 0.00008
NM_001440.4(EXTL3):c.1587C>T (p.Thr529=) rs112724129 0.00008
NM_001440.4(EXTL3):c.42C>T (p.Asn14=) rs530360988 0.00008
NM_001440.4(EXTL3):c.2486T>C (p.Ile829Thr) rs756753935 0.00007
NM_001440.4(EXTL3):c.1155G>A (p.Ala385=) rs371462015 0.00006
NM_001440.4(EXTL3):c.1582A>C (p.Asn528His) rs145090231 0.00006
NM_001440.4(EXTL3):c.183C>G (p.Gly61=) rs370320793 0.00006
NM_001440.4(EXTL3):c.187C>T (p.Arg63Trp) rs373430705 0.00006
NM_001440.4(EXTL3):c.2077G>A (p.Val693Met) rs1018298399 0.00006
NM_001440.4(EXTL3):c.321C>T (p.Ile107=) rs146089300 0.00006
NM_001440.4(EXTL3):c.501C>T (p.Gly167=) rs778345262 0.00006
NM_001440.4(EXTL3):c.1290C>T (p.Phe430=) rs199880183 0.00005
NM_001440.4(EXTL3):c.1473C>T (p.Thr491=) rs747900653 0.00005
NM_001440.4(EXTL3):c.830A>G (p.Asn277Ser) rs199663088 0.00005
NM_001440.4(EXTL3):c.1443G>A (p.Ala481=) rs759791895 0.00004
NM_001440.4(EXTL3):c.1458A>G (p.Pro486=) rs779253231 0.00004
NM_001440.4(EXTL3):c.1626C>T (p.Ala542=) rs140625555 0.00004
NM_001440.4(EXTL3):c.1752C>T (p.Tyr584=) rs750365532 0.00004
NM_001440.4(EXTL3):c.1855T>G (p.Phe619Val) rs771738641 0.00004
NM_001440.4(EXTL3):c.1999A>G (p.Met667Val) rs377328753 0.00004
NM_001440.4(EXTL3):c.22C>T (p.Arg8Trp) rs780815544 0.00004
NM_001440.4(EXTL3):c.231G>A (p.Lys77=) rs1012943161 0.00004
NM_001440.4(EXTL3):c.2458G>A (p.Ala820Thr) rs767241080 0.00004
NM_001440.4(EXTL3):c.2550+11A>G rs199545704 0.00004
NM_001440.4(EXTL3):c.473G>A (p.Arg158Gln) rs573052861 0.00004
NM_001440.4(EXTL3):c.498C>T (p.Ala166=) rs141908755 0.00004
NM_001440.4(EXTL3):c.754C>T (p.Arg252Trp) rs554162593 0.00004
NM_001440.4(EXTL3):c.1120G>A (p.Asp374Asn) rs201263762 0.00003
NM_001440.4(EXTL3):c.1477G>T (p.Val493Phe) rs769679440 0.00003
NM_001440.4(EXTL3):c.174T>G (p.Asp58Glu) rs762082642 0.00003
NM_001440.4(EXTL3):c.1753G>A (p.Ala585Thr) rs530699484 0.00003
NM_001440.4(EXTL3):c.213C>T (p.Asn71=) rs772342569 0.00003
NM_001440.4(EXTL3):c.235G>A (p.Val79Met) rs374083446 0.00003
NM_001440.4(EXTL3):c.36G>A (p.Ala12=) rs760155236 0.00003
NM_001440.4(EXTL3):c.414C>T (p.Thr138=) rs769913271 0.00003
NM_001440.4(EXTL3):c.527G>T (p.Gly176Val) rs997984760 0.00003
NM_001440.4(EXTL3):c.560G>A (p.Arg187His) rs201375409 0.00003
NM_001440.4(EXTL3):c.660G>A (p.Ala220=) rs1238726417 0.00003
NM_001440.4(EXTL3):c.714C>T (p.Tyr238=) rs747469381 0.00003
NM_001440.4(EXTL3):c.77G>A (p.Arg26His) rs146905864 0.00003
NM_001440.4(EXTL3):c.883C>T (p.Arg295Cys) rs369682689 0.00003
NM_001440.4(EXTL3):c.921G>T (p.Gln307His) rs757011891 0.00003
NM_001440.4(EXTL3):c.1101G>T (p.Met367Ile) rs757634700 0.00002
NM_001440.4(EXTL3):c.1178A>G (p.Gln393Arg) rs141972611 0.00002
NM_001440.4(EXTL3):c.1503C>T (p.Ser501=) rs150064380 0.00002
NM_001440.4(EXTL3):c.1504G>A (p.Asp502Asn) rs773872905 0.00002
NM_001440.4(EXTL3):c.1566T>C (p.Thr522=) rs371346996 0.00002
NM_001440.4(EXTL3):c.1637G>A (p.Arg546Gln) rs143705855 0.00002
NM_001440.4(EXTL3):c.1970A>G (p.Asn657Ser) rs770842408 0.00002
NM_001440.4(EXTL3):c.2019G>A (p.Glu673=) rs143717955 0.00002
NM_001440.4(EXTL3):c.2112G>C (p.Glu704Asp) rs780049312 0.00002
NM_001440.4(EXTL3):c.2118T>C (p.Leu706=) rs768720725 0.00002
NM_001440.4(EXTL3):c.2277G>T (p.Arg759=) rs144474985 0.00002
NM_001440.4(EXTL3):c.238C>T (p.Leu80=) rs142901670 0.00002
NM_001440.4(EXTL3):c.369C>T (p.Asn123=) rs761359440 0.00002
NM_001440.4(EXTL3):c.592G>A (p.Val198Ile) rs368473155 0.00002
NM_001440.4(EXTL3):c.65G>A (p.Arg22His) rs758164674 0.00002
NM_001440.4(EXTL3):c.675C>T (p.Asn225=) rs145172664 0.00002
NM_001440.4(EXTL3):c.76C>T (p.Arg26Cys) rs141948891 0.00002
NM_001440.4(EXTL3):c.942G>A (p.Leu314=) rs201627248 0.00002
NM_001440.4(EXTL3):c.946G>A (p.Val316Ile) rs546457214 0.00002
NM_001440.4(EXTL3):c.954G>A (p.Pro318=) rs149014454 0.00002
NM_001440.4(EXTL3):c.1006C>T (p.Pro336Ser) rs766289557 0.00001
NM_001440.4(EXTL3):c.1023T>C (p.Tyr341=) rs200034404 0.00001
NM_001440.4(EXTL3):c.1031C>T (p.Thr344Ile) rs1456641687 0.00001
NM_001440.4(EXTL3):c.104C>T (p.Thr35Met) rs748989305 0.00001
NM_001440.4(EXTL3):c.1054T>A (p.Ser352Thr) rs975388869 0.00001
NM_001440.4(EXTL3):c.1119C>T (p.Ala373=) rs145055727 0.00001
NM_001440.4(EXTL3):c.1158G>A (p.Val386=) rs1396523028 0.00001
NM_001440.4(EXTL3):c.1196C>T (p.Thr399Ile) rs768769383 0.00001
NM_001440.4(EXTL3):c.1279C>G (p.Leu427Val) rs1801179636 0.00001
NM_001440.4(EXTL3):c.1281C>T (p.Leu427=) rs758730179 0.00001
NM_001440.4(EXTL3):c.1291G>A (p.Ala431Thr) rs1484770197 0.00001
NM_001440.4(EXTL3):c.1449G>A (p.Leu483=) rs1258769533 0.00001
NM_001440.4(EXTL3):c.1461G>A (p.Lys487=) rs200923391 0.00001
NM_001440.4(EXTL3):c.1465C>T (p.Arg489Cys) rs754724657 0.00001
NM_001440.4(EXTL3):c.1474G>A (p.Glu492Lys) rs1316844249 0.00001
NM_001440.4(EXTL3):c.1521T>A (p.Ala507=) rs545077269 0.00001
NM_001440.4(EXTL3):c.1646C>T (p.Ala549Val) rs750476711 0.00001
NM_001440.4(EXTL3):c.1647G>A (p.Ala549=) rs201787949 0.00001
NM_001440.4(EXTL3):c.1659C>T (p.Ile553=) rs994319491 0.00001
NM_001440.4(EXTL3):c.1669T>G (p.Ser557Ala) rs928526657 0.00001
NM_001440.4(EXTL3):c.1680G>A (p.Ala560=) rs200375528 0.00001
NM_001440.4(EXTL3):c.1704T>C (p.Ala568=) rs748555675 0.00001
NM_001440.4(EXTL3):c.1779C>G (p.Phe593Leu) rs1479689005 0.00001
NM_001440.4(EXTL3):c.1805G>A (p.Arg602His) rs773766888 0.00001
NM_001440.4(EXTL3):c.1843C>G (p.Pro615Ala) rs1801200192 0.00001
NM_001440.4(EXTL3):c.1910G>A (p.Arg637Gln) rs756490197 0.00001
NM_001440.4(EXTL3):c.1954G>T (p.Ala652Ser) rs1278924019 0.00001
NM_001440.4(EXTL3):c.1959G>A (p.Ala653=) rs775682299 0.00001
NM_001440.4(EXTL3):c.1983G>A (p.Glu661=) rs1263339277 0.00001
NM_001440.4(EXTL3):c.2007T>C (p.Thr669=) rs1278851710 0.00001
NM_001440.4(EXTL3):c.2148+18A>C rs753564009 0.00001
NM_001440.4(EXTL3):c.2156G>A (p.Arg719His) rs775551682 0.00001
NM_001440.4(EXTL3):c.219G>C (p.Leu73=) rs747551309 0.00001
NM_001440.4(EXTL3):c.2207A>G (p.Glu736Gly) rs776131097 0.00001
NM_001440.4(EXTL3):c.2256C>T (p.Asp752=) rs781276373 0.00001
NM_001440.4(EXTL3):c.2276+3G>A rs372406251 0.00001
NM_001440.4(EXTL3):c.2277-15C>T rs544827563 0.00001
NM_001440.4(EXTL3):c.2328C>T (p.His776=) rs540742947 0.00001
NM_001440.4(EXTL3):c.2401G>A (p.Gly801Ser) rs751320973 0.00001
NM_001440.4(EXTL3):c.243T>C (p.Asp81=) rs756180786 0.00001
NM_001440.4(EXTL3):c.2444A>T (p.Tyr815Phe) rs983136504 0.00001
NM_001440.4(EXTL3):c.2465G>A (p.Arg822Gln) rs1801814153 0.00001
NM_001440.4(EXTL3):c.2550+10C>T rs1464572309 0.00001
NM_001440.4(EXTL3):c.2550+13C>T rs766617724 0.00001
NM_001440.4(EXTL3):c.2551-17C>G rs773124186 0.00001
NM_001440.4(EXTL3):c.257G>A (p.Arg86Gln) rs1801145750 0.00001
NM_001440.4(EXTL3):c.2620C>T (p.His874Tyr) rs1320560943 0.00001
NM_001440.4(EXTL3):c.2622C>T (p.His874=) rs375394103 0.00001
NM_001440.4(EXTL3):c.269G>A (p.Ser90Asn) rs745551307 0.00001
NM_001440.4(EXTL3):c.2719C>T (p.Arg907Cys) rs1256631842 0.00001
NM_001440.4(EXTL3):c.280C>T (p.Leu94=) rs377363064 0.00001
NM_001440.4(EXTL3):c.316G>A (p.Glu106Lys) rs763152974 0.00001
NM_001440.4(EXTL3):c.342C>T (p.Ile114=) rs538331636 0.00001
NM_001440.4(EXTL3):c.415G>A (p.Glu139Lys) rs749401888 0.00001
NM_001440.4(EXTL3):c.474A>T (p.Arg158=) rs749842890 0.00001
NM_001440.4(EXTL3):c.603T>C (p.Ser201=) rs151202391 0.00001
NM_001440.4(EXTL3):c.64C>T (p.Arg22Cys) rs754077651 0.00001
NM_001440.4(EXTL3):c.668G>A (p.Arg223Gln) rs770418802 0.00001
NM_001440.4(EXTL3):c.724G>T (p.Val242Leu) rs1007303315 0.00001
NM_001440.4(EXTL3):c.839G>A (p.Arg280His) rs139633425 0.00001
NM_001440.4(EXTL3):c.882C>T (p.Gly294=) rs773851874 0.00001
NM_001440.4(EXTL3):c.945C>T (p.Val315=) rs200303029 0.00001
NM_001440.4(EXTL3):c.953C>T (p.Pro318Leu) rs749621890 0.00001
NM_001440.4(EXTL3):c.97A>T (p.Ser33Cys) rs1471389911 0.00001
NM_001440.4(EXTL3):c.1007C>T (p.Pro336Leu)
NM_001440.4(EXTL3):c.1008G>A (p.Pro336=) rs1447935875
NM_001440.4(EXTL3):c.1015C>A (p.Arg339=)
NM_001440.4(EXTL3):c.1015C>T (p.Arg339Trp) rs747676107
NM_001440.4(EXTL3):c.1016G>A (p.Arg339Gln)
NM_001440.4(EXTL3):c.1020A>G (p.Lys340=)
NM_001440.4(EXTL3):c.1040G>A (p.Gly347Asp) rs1801170252
NM_001440.4(EXTL3):c.1041C>T (p.Gly347=) rs1386936332
NM_001440.4(EXTL3):c.1042G>A (p.Glu348Lys) rs746425652
NM_001440.4(EXTL3):c.1050dup (p.Glu351Ter) rs1343287159
NM_001440.4(EXTL3):c.1056T>C (p.Ser352=)
NM_001440.4(EXTL3):c.105G>A (p.Thr35=)
NM_001440.4(EXTL3):c.1062G>A (p.Arg354=)
NM_001440.4(EXTL3):c.1068C>T (p.Ser356=)
NM_001440.4(EXTL3):c.1073A>T (p.Gln358Leu)
NM_001440.4(EXTL3):c.1082G>A (p.Arg361His)
NM_001440.4(EXTL3):c.1083C>T (p.Arg361=)
NM_001440.4(EXTL3):c.1084T>C (p.Ser362Pro) rs754905066
NM_001440.4(EXTL3):c.1089C>T (p.Phe363=)
NM_001440.4(EXTL3):c.108C>G (p.Leu36=)
NM_001440.4(EXTL3):c.1098A>G (p.Glu366=)
NM_001440.4(EXTL3):c.1107C>T (p.Gly369=)
NM_001440.4(EXTL3):c.1117G>A (p.Ala373Thr)
NM_001440.4(EXTL3):c.1134G>A (p.Arg378=)
NM_001440.4(EXTL3):c.1143C>T (p.Ala381=)
NM_001440.4(EXTL3):c.1145C>A (p.Thr382Asn)
NM_001440.4(EXTL3):c.114C>T (p.Val38=)
NM_001440.4(EXTL3):c.1154C>T (p.Ala385Val)
NM_001440.4(EXTL3):c.115A>T (p.Ile39Phe) rs2130735379
NM_001440.4(EXTL3):c.117C>T (p.Ile39=)
NM_001440.4(EXTL3):c.1181T>G (p.Val394Gly)
NM_001440.4(EXTL3):c.1201A>G (p.Lys401Glu)
NM_001440.4(EXTL3):c.1206C>T (p.Asn402=) rs1801176560
NM_001440.4(EXTL3):c.1219A>G (p.Ser407Gly)
NM_001440.4(EXTL3):c.1221C>T (p.Ser407=)
NM_001440.4(EXTL3):c.1222C>T (p.Leu408=)
NM_001440.4(EXTL3):c.1239A>C (p.Ala413=)
NM_001440.4(EXTL3):c.123C>G (p.Val41=)
NM_001440.4(EXTL3):c.1243T>G (p.Cys415Gly)
NM_001440.4(EXTL3):c.1275G>A (p.Leu425=)
NM_001440.4(EXTL3):c.1299C>T (p.Ile433=)
NM_001440.4(EXTL3):c.1304C>T (p.Thr435Ile) rs1801180825
NM_001440.4(EXTL3):c.1308C>T (p.Pro436=)
NM_001440.4(EXTL3):c.1309G>A (p.Gly437Arg)
NM_001440.4(EXTL3):c.1318C>T (p.Arg440Cys)
NM_001440.4(EXTL3):c.132G>C (p.Pro44=) rs1350898553
NM_001440.4(EXTL3):c.132_133insAAG (p.Pro44_Leu45insLys)
NM_001440.4(EXTL3):c.1332C>T (p.Ser444=)
NM_001440.4(EXTL3):c.1338G>C (p.Gly446=)
NM_001440.4(EXTL3):c.1341T>C (p.Cys447=)
NM_001440.4(EXTL3):c.1342G>A (p.Ala448Thr)
NM_001440.4(EXTL3):c.1356C>T (p.Phe452=)
NM_001440.4(EXTL3):c.1359A>G (p.Glu453=)
NM_001440.4(EXTL3):c.135C>T (p.Leu45=)
NM_001440.4(EXTL3):c.1367A>T (p.Glu456Val) rs2130739897
NM_001440.4(EXTL3):c.1371C>A (p.Val457=) rs147171231
NM_001440.4(EXTL3):c.1383G>A (p.Pro461=)
NM_001440.4(EXTL3):c.1392G>T (p.Leu464=) rs1801184389
NM_001440.4(EXTL3):c.1405C>A (p.Gln469Lys)
NM_001440.4(EXTL3):c.1415A>G (p.Tyr472Cys)
NM_001440.4(EXTL3):c.1420G>A (p.Asp474Asn)
NM_001440.4(EXTL3):c.1421A>G (p.Asp474Gly)
NM_001440.4(EXTL3):c.1423A>G (p.Met475Val) rs1801185362
NM_001440.4(EXTL3):c.1429C>T (p.Gln477Ter) rs2130740153
NM_001440.4(EXTL3):c.1431G>A (p.Gln477=)
NM_001440.4(EXTL3):c.1442C>T (p.Ala481Val)
NM_001440.4(EXTL3):c.1466G>T (p.Arg489Leu) rs781097911
NM_001440.4(EXTL3):c.1513C>T (p.Leu505Phe)
NM_001440.4(EXTL3):c.1521T>C (p.Ala507=)
NM_001440.4(EXTL3):c.1535G>C (p.Gly512Ala)
NM_001440.4(EXTL3):c.1537C>G (p.Arg513Gly)
NM_001440.4(EXTL3):c.1537C>T (p.Arg513Cys)
NM_001440.4(EXTL3):c.1539C>T (p.Arg513=)
NM_001440.4(EXTL3):c.153C>T (p.Leu51=)
NM_001440.4(EXTL3):c.1554T>G (p.Thr518=)
NM_001440.4(EXTL3):c.1567G>A (p.Ala523Thr) rs1214674621
NM_001440.4(EXTL3):c.156C>G (p.Thr52=)
NM_001440.4(EXTL3):c.1573A>G (p.Ser525Gly)
NM_001440.4(EXTL3):c.1581T>C (p.Phe527=)
NM_001440.4(EXTL3):c.1588G>A (p.Val530Met)
NM_001440.4(EXTL3):c.1602T>C (p.Ile534=)
NM_001440.4(EXTL3):c.1609C>T (p.Arg537Cys)
NM_001440.4(EXTL3):c.1636C>T (p.Arg546Trp)
NM_001440.4(EXTL3):c.1653T>G (p.Ala551=)
NM_001440.4(EXTL3):c.1661_1663del (p.Pro554del) rs2130741101
NM_001440.4(EXTL3):c.1667G>A (p.Arg556His) rs369743761
NM_001440.4(EXTL3):c.1667G>T (p.Arg556Leu)
NM_001440.4(EXTL3):c.1678G>T (p.Ala560Ser)
NM_001440.4(EXTL3):c.1680G>T (p.Ala560=) rs200375528
NM_001440.4(EXTL3):c.1686A>C (p.Gly562=)
NM_001440.4(EXTL3):c.1695C>T (p.Pro565=)
NM_001440.4(EXTL3):c.1699A>G (p.Met567Val)
NM_001440.4(EXTL3):c.1704T>G (p.Ala568=) rs748555675
NM_001440.4(EXTL3):c.1710C>T (p.Asn570=)
NM_001440.4(EXTL3):c.171_179dup (p.55DEA[3]) rs761888477
NM_001440.4(EXTL3):c.1726G>T (p.Gly576Trp)
NM_001440.4(EXTL3):c.1739C>T (p.Thr580Met)
NM_001440.4(EXTL3):c.1740G>A (p.Thr580=)
NM_001440.4(EXTL3):c.1740G>C (p.Thr580=)
NM_001440.4(EXTL3):c.1746G>A (p.Pro582=)
NM_001440.4(EXTL3):c.1746G>T (p.Pro582=)
NM_001440.4(EXTL3):c.1747C>T (p.Pro583Ser)
NM_001440.4(EXTL3):c.1762A>G (p.Arg588Gly)
NM_001440.4(EXTL3):c.1763G>C (p.Arg588Thr) rs2130741557
NM_001440.4(EXTL3):c.1768C>T (p.Leu590Phe)
NM_001440.4(EXTL3):c.1781C>G (p.Thr594Ser)
NM_001440.4(EXTL3):c.1811G>A (p.Trp604Ter)
NM_001440.4(EXTL3):c.1833C>T (p.Phe611=)
NM_001440.4(EXTL3):c.1835A>G (p.His612Arg)
NM_001440.4(EXTL3):c.1848C>T (p.His616=)
NM_001440.4(EXTL3):c.185A>G (p.Lys62Arg) rs1306594714
NM_001440.4(EXTL3):c.1860C>T (p.Asp620=)
NM_001440.4(EXTL3):c.1866G>A (p.Val622=)
NM_001440.4(EXTL3):c.1872C>T (p.Pro624=)
NM_001440.4(EXTL3):c.1887C>T (p.Phe629=)
NM_001440.4(EXTL3):c.1888T>C (p.Leu630=)
NM_001440.4(EXTL3):c.189G>A (p.Arg63=)
NM_001440.4(EXTL3):c.18G>A (p.Met6Ile)
NM_001440.4(EXTL3):c.1905C>T (p.Gly635=)
NM_001440.4(EXTL3):c.1912C>T (p.Pro638Ser)
NM_001440.4(EXTL3):c.1923T>G (p.Gly641=)
NM_001440.4(EXTL3):c.1943A>G (p.Lys648Arg)
NM_001440.4(EXTL3):c.1956A>G (p.Ala652=) rs373139263
NM_001440.4(EXTL3):c.195T>C (p.Phe65=)
NM_001440.4(EXTL3):c.1978del (p.Arg660fs) rs2130742237
NM_001440.4(EXTL3):c.1986G>T (p.Gln662His)
NM_001440.4(EXTL3):c.1992G>A (p.Thr664=)
NM_001440.4(EXTL3):c.2009dup (p.Tyr670Ter) rs2130742371
NM_001440.4(EXTL3):c.2013G>A (p.Glu671=)
NM_001440.4(EXTL3):c.2014C>G (p.Arg672Gly) rs2130742393
NM_001440.4(EXTL3):c.201C>G (p.Pro67=) rs1387673684
NM_001440.4(EXTL3):c.2028T>C (p.Leu676=)
NM_001440.4(EXTL3):c.206T>C (p.Val69Ala)
NM_001440.4(EXTL3):c.2076C>T (p.Val692=)
NM_001440.4(EXTL3):c.2097C>G (p.Pro699=)
NM_001440.4(EXTL3):c.2103G>A (p.Leu701=)
NM_001440.4(EXTL3):c.2106A>G (p.Pro702=) rs1490072293
NM_001440.4(EXTL3):c.2139C>T (p.Val713=)
NM_001440.4(EXTL3):c.2141C>G (p.Pro714Arg) rs1801208888
NM_001440.4(EXTL3):c.2148+12A>G
NM_001440.4(EXTL3):c.2148+14G>A
NM_001440.4(EXTL3):c.2148+5T>C
NM_001440.4(EXTL3):c.2149-15C>T
NM_001440.4(EXTL3):c.2149-4A>G
NM_001440.4(EXTL3):c.2163G>T (p.Glu721Asp)
NM_001440.4(EXTL3):c.216G>A (p.Glu72=)
NM_001440.4(EXTL3):c.2211A>T (p.Thr737=)
NM_001440.4(EXTL3):c.2218A>G (p.Ile740Val)
NM_001440.4(EXTL3):c.222C>T (p.Cys74=)
NM_001440.4(EXTL3):c.2235C>T (p.Asp745=)
NM_001440.4(EXTL3):c.223G>A (p.Glu75Lys)
NM_001440.4(EXTL3):c.2263A>G (p.Met755Val)
NM_001440.4(EXTL3):c.2265G>A (p.Met755Ile)
NM_001440.4(EXTL3):c.2276+17C>T
NM_001440.4(EXTL3):c.2277-12G>A
NM_001440.4(EXTL3):c.2277-12G>T
NM_001440.4(EXTL3):c.2277-15_2277-3dup rs756857596
NM_001440.4(EXTL3):c.2277-20A>G
NM_001440.4(EXTL3):c.2293C>T (p.Arg765Trp)
NM_001440.4(EXTL3):c.2299C>T (p.Arg767Cys)
NM_001440.4(EXTL3):c.2300G>A (p.Arg767His) rs781131046
NM_001440.4(EXTL3):c.2305G>A (p.Val769Met)
NM_001440.4(EXTL3):c.2305G>C (p.Val769Leu)
NM_001440.4(EXTL3):c.2307G>T (p.Val769=)
NM_001440.4(EXTL3):c.2313C>T (p.Phe771=)
NM_001440.4(EXTL3):c.2320C>T (p.Arg774Cys) rs1554487418
NM_001440.4(EXTL3):c.2329G>T (p.Ala777Ser) rs369382883
NM_001440.4(EXTL3):c.2331A>G (p.Ala777=)
NM_001440.4(EXTL3):c.2341C>T (p.Pro781Ser) rs1220474610
NM_001440.4(EXTL3):c.2376C>T (p.Ser792=)
NM_001440.4(EXTL3):c.2394G>T (p.Val798=) rs1437126457
NM_001440.4(EXTL3):c.2406T>C (p.Ala802=)
NM_001440.4(EXTL3):c.2409C>G (p.Ala803=) rs532555915
NM_001440.4(EXTL3):c.240G>A (p.Leu80=)
NM_001440.4(EXTL3):c.2421+17A>G
NM_001440.4(EXTL3):c.2421+7A>C
NM_001440.4(EXTL3):c.2422-12T>C
NM_001440.4(EXTL3):c.2422-15T>C
NM_001440.4(EXTL3):c.2422-15T>G
NM_001440.4(EXTL3):c.2422-5G>A
NM_001440.4(EXTL3):c.2422-7C>T
NM_001440.4(EXTL3):c.2436G>C (p.Leu812=)
NM_001440.4(EXTL3):c.2464C>T (p.Arg822Trp)
NM_001440.4(EXTL3):c.2467G>A (p.Asp823Asn)
NM_001440.4(EXTL3):c.2469C>T (p.Asp823=)
NM_001440.4(EXTL3):c.2505C>T (p.Ala835=) rs2130793315
NM_001440.4(EXTL3):c.2506A>G (p.Met836Val)
NM_001440.4(EXTL3):c.250C>T (p.Arg84Cys) rs1801145430
NM_001440.4(EXTL3):c.2511C>T (p.Asn837=)
NM_001440.4(EXTL3):c.2517T>G (p.Leu839=)
NM_001440.4(EXTL3):c.2529C>T (p.Ile843=)
NM_001440.4(EXTL3):c.252C>T (p.Arg84=)
NM_001440.4(EXTL3):c.2533C>T (p.Arg845Trp) rs769238546
NM_001440.4(EXTL3):c.2544C>T (p.Pro848=)
NM_001440.4(EXTL3):c.2545A>G (p.Ile849Val)
NM_001440.4(EXTL3):c.2546T>C (p.Ile849Thr) rs2130793452
NM_001440.4(EXTL3):c.2550+106A>G
NM_001440.4(EXTL3):c.2550+15C>G
NM_001440.4(EXTL3):c.2551-13C>G
NM_001440.4(EXTL3):c.2551-20TC[4]
NM_001440.4(EXTL3):c.2551-4C>T
NM_001440.4(EXTL3):c.2551-8G>C rs538436653
NM_001440.4(EXTL3):c.2551-9C>T rs771117794
NM_001440.4(EXTL3):c.2553G>A (p.Val851=)
NM_001440.4(EXTL3):c.2573G>A (p.Arg858Gln) rs2130806093
NM_001440.4(EXTL3):c.2591A>T (p.Gln864Leu)
NM_001440.4(EXTL3):c.25A>G (p.Asn9Asp) rs1312963540
NM_001440.4(EXTL3):c.2605G>C (p.Asp869His)
NM_001440.4(EXTL3):c.2612C>A (p.Ser871Tyr) rs1241855800
NM_001440.4(EXTL3):c.2631C>T (p.His877=)
NM_001440.4(EXTL3):c.2664C>T (p.Gly888=)
NM_001440.4(EXTL3):c.2673C>T (p.Pro891=)
NM_001440.4(EXTL3):c.2674C>T (p.Leu892Phe)
NM_001440.4(EXTL3):c.2679G>A (p.Leu893=)
NM_001440.4(EXTL3):c.2682C>T (p.Tyr894=)
NM_001440.4(EXTL3):c.2685G>A (p.Thr895=)
NM_001440.4(EXTL3):c.2724G>A (p.Leu908=)
NM_001440.4(EXTL3):c.2724G>T (p.Leu908=)
NM_001440.4(EXTL3):c.2739C>G (p.Thr913=)
NM_001440.4(EXTL3):c.2751G>A (p.Lys917=)
NM_001440.4(EXTL3):c.285G>A (p.Gln95=)
NM_001440.4(EXTL3):c.293C>G (p.Ala98Gly) rs2130736001
NM_001440.4(EXTL3):c.2T>C (p.Met1Thr)
NM_001440.4(EXTL3):c.300C>T (p.Arg100=)
NM_001440.4(EXTL3):c.30G>T (p.Gly10=)
NM_001440.4(EXTL3):c.312C>T (p.Asn104=)
NM_001440.4(EXTL3):c.330G>A (p.Leu110=)
NM_001440.4(EXTL3):c.333T>C (p.Asn111=)
NM_001440.4(EXTL3):c.33C>T (p.Gly11=)
NM_001440.4(EXTL3):c.348C>G (p.Ala116=)
NM_001440.4(EXTL3):c.35C>T (p.Ala12Val)
NM_001440.4(EXTL3):c.361A>G (p.Ile121Val)
NM_001440.4(EXTL3):c.393C>G (p.Leu131=)
NM_001440.4(EXTL3):c.397A>G (p.Asn133Asp)
NM_001440.4(EXTL3):c.435C>T (p.Leu145=)
NM_001440.4(EXTL3):c.437T>C (p.Met146Thr)
NM_001440.4(EXTL3):c.443A>G (p.Gln148Arg)
NM_001440.4(EXTL3):c.451C>A (p.Pro151Thr) rs1801150930
NM_001440.4(EXTL3):c.451C>T (p.Pro151Ser)
NM_001440.4(EXTL3):c.456G>A (p.Lys152=)
NM_001440.4(EXTL3):c.45A>T (p.Gly15=) rs2130735111
NM_001440.4(EXTL3):c.462C>G (p.Ser154=) rs1412797834
NM_001440.4(EXTL3):c.462C>T (p.Ser154=)
NM_001440.4(EXTL3):c.465G>T (p.Leu155=) rs2130736554
NM_001440.4(EXTL3):c.467C>T (p.Pro156Leu)
NM_001440.4(EXTL3):c.471C>T (p.Ile157=)
NM_001440.4(EXTL3):c.476T>C (p.Leu159Pro)
NM_001440.4(EXTL3):c.477G>T (p.Leu159=) rs762558658
NM_001440.4(EXTL3):c.497C>T (p.Ala166Val)
NM_001440.4(EXTL3):c.499G>A (p.Gly167Ser)
NM_001440.4(EXTL3):c.504C>T (p.Leu168=)
NM_001440.4(EXTL3):c.510C>A (p.Pro170=) rs1801153192
NM_001440.4(EXTL3):c.512C>A (p.Pro171Gln)
NM_001440.4(EXTL3):c.512C>T (p.Pro171Leu)
NM_001440.4(EXTL3):c.514A>C (p.Lys172Gln)
NM_001440.4(EXTL3):c.523C>T (p.Arg175Trp)
NM_001440.4(EXTL3):c.540C>T (p.His180=) rs765913664
NM_001440.4(EXTL3):c.559C>T (p.Arg187Cys)
NM_001440.4(EXTL3):c.564C>T (p.Cys188=)
NM_001440.4(EXTL3):c.565C>A (p.Pro189Thr) rs2130736964
NM_001440.4(EXTL3):c.565C>T (p.Pro189Ser)
NM_001440.4(EXTL3):c.572C>T (p.Thr191Ile) rs1801155769
NM_001440.4(EXTL3):c.585G>A (p.Pro195=)
NM_001440.4(EXTL3):c.61C>T (p.Leu21=)
NM_001440.4(EXTL3):c.621C>G (p.Gly207=) rs1801156828
NM_001440.4(EXTL3):c.635C>T (p.Pro212Leu)
NM_001440.4(EXTL3):c.667C>T (p.Arg223Ter)
NM_001440.4(EXTL3):c.676G>A (p.Val226Ile)
NM_001440.4(EXTL3):c.676G>C (p.Val226Leu) rs531742587
NM_001440.4(EXTL3):c.682G>A (p.Val228Ile)
NM_001440.4(EXTL3):c.697G>T (p.Asp233Tyr)
NM_001440.4(EXTL3):c.6A>G (p.Thr2=)
NM_001440.4(EXTL3):c.6dup (p.Gly3fs)
NM_001440.4(EXTL3):c.715G>A (p.Val239Met)
NM_001440.4(EXTL3):c.720A>G (p.Ile240Met) rs2130737332
NM_001440.4(EXTL3):c.723A>G (p.Leu241=)
NM_001440.4(EXTL3):c.732G>A (p.Glu244=)
NM_001440.4(EXTL3):c.733A>T (p.Met245Leu)
NM_001440.4(EXTL3):c.743_870dup (p.Val291fs)
NM_001440.4(EXTL3):c.744G>A (p.Pro248=)
NM_001440.4(EXTL3):c.747G>C (p.Val249=)
NM_001440.4(EXTL3):c.751C>T (p.Leu251=)
NM_001440.4(EXTL3):c.754C>A (p.Arg252=) rs554162593
NM_001440.4(EXTL3):c.774G>A (p.Lys258=)
NM_001440.4(EXTL3):c.783T>C (p.Tyr261=)
NM_001440.4(EXTL3):c.792A>C (p.Pro264=)
NM_001440.4(EXTL3):c.792A>G (p.Pro264=)
NM_001440.4(EXTL3):c.796T>G (p.Trp266Gly)
NM_001440.4(EXTL3):c.79A>G (p.Ile27Val) rs1801139095
NM_001440.4(EXTL3):c.800G>A (p.Arg267Gln)
NM_001440.4(EXTL3):c.801G>A (p.Arg267=)
NM_001440.4(EXTL3):c.810A>G (p.Gly270=)
NM_001440.4(EXTL3):c.81C>T (p.Ile27=)
NM_001440.4(EXTL3):c.82C>G (p.Arg28Gly)
NM_001440.4(EXTL3):c.82C>T (p.Arg28Cys)
NM_001440.4(EXTL3):c.83G>A (p.Arg28His)
NM_001440.4(EXTL3):c.852A>G (p.Thr284=)
NM_001440.4(EXTL3):c.866A>G (p.Tyr289Cys)
NM_001440.4(EXTL3):c.868_885del (p.Asn290_Arg295del)
NM_001440.4(EXTL3):c.878C>G (p.Thr293Ser) rs2130737864
NM_001440.4(EXTL3):c.878C>T (p.Thr293Ile)
NM_001440.4(EXTL3):c.896C>T (p.Ala299Val) rs2130737942
NM_001440.4(EXTL3):c.905C>A (p.Thr302Asn) rs1801164691
NM_001440.4(EXTL3):c.924C>T (p.Tyr308=)
NM_001440.4(EXTL3):c.928C>A (p.Pro310Thr)
NM_001440.4(EXTL3):c.931G>A (p.Gly311Ser) rs779860461
NM_001440.4(EXTL3):c.939C>T (p.Asp313=) rs1477625189
NM_001440.4(EXTL3):c.945C>G (p.Val315=)
NM_001440.4(EXTL3):c.958G>C (p.Val320Leu)
NM_001440.4(EXTL3):c.961C>T (p.His321Tyr)
NM_001440.4(EXTL3):c.963T>C (p.His321=)
NM_001440.4(EXTL3):c.990A>G (p.Glu330=)
NM_001440.4(EXTL3):c.996A>G (p.Pro332=)
NM_001440.4(EXTL3):c.999A>G (p.Pro333=)

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