ClinVar Miner

List of variants studied for inborn disorder of lysosomal amino acid transport by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1823
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HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile) rs161400 0.84806
NM_004937.3(CTNS):c.504G>A (p.Thr168=) rs1800528 0.14800
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=) rs3757112 0.05389
NM_004937.3(CTNS):c.462T>C (p.Ser154=) rs77453839 0.05257
NM_004937.3(CTNS):c.970+15G>A rs76153698 0.03340
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950 0.02902
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_004937.3(CTNS):c.-635G>C rs112140949 0.01378
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) rs16883930 0.01342
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_004937.3(CTNS):c.108C>T (p.Asn36=) rs117404824 0.00664
NM_012434.5(SLC17A5):c.820-3C>T rs12201641 0.00436
NM_012434.5(SLC17A5):c.33C>T (p.Asn11=) rs139255194 0.00433
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402 0.00389
NM_004937.3(CTNS):c.462-7C>A rs189632527 0.00259
NM_012434.5(SLC17A5):c.553A>G (p.Met185Val) rs34348416 0.00257
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu) rs144751390 0.00219
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00215
NM_004937.3(CTNS):c.327C>T (p.Thr109=) rs150554216 0.00141
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn) rs139364393 0.00116
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr) rs141463026 0.00098
NM_004937.3(CTNS):c.834G>A (p.Leu278=) rs139519275 0.00094
NM_004937.3(CTNS):c.461+10del rs377470989 0.00077
NM_004937.3(CTNS):c.695G>A (p.Arg232His) rs142641674 0.00072
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn) rs140326392 0.00072
NM_004937.3(CTNS):c.516C>T (p.Ala172=) rs143405190 0.00068
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_005476.7(GNE):c.1245C>T (p.Gly415=) rs140784655 0.00059
NM_004937.3(CTNS):c.534C>T (p.Ile178=) rs113967200 0.00058
NM_012434.5(SLC17A5):c.1112-18A>G rs751782561 0.00049
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_004937.3(CTNS):c.853-15G>A rs376050426 0.00043
NM_004937.3(CTNS):c.562-20T>C rs764063960 0.00042
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=) rs147732875 0.00041
NM_004937.3(CTNS):c.561+4C>T rs111256750 0.00040
NM_005476.7(GNE):c.165-18A>G rs374105190 0.00038
NM_005476.7(GNE):c.2004C>T (p.Ser668=) rs150045137 0.00038
NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile) rs140060360 0.00037
NM_004937.3(CTNS):c.94G>A (p.Val32Ile) rs146684402 0.00036
NM_005476.7(GNE):c.1509C>G (p.Pro503=) rs141172610 0.00036
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser) rs200632199 0.00032
NM_012434.5(SLC17A5):c.1059G>A (p.Arg353=) rs149017456 0.00031
NM_004937.3(CTNS):c.661G>A (p.Val221Met) rs138270433 0.00029
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr) rs141341430 0.00028
NM_012434.5(SLC17A5):c.6G>A (p.Arg2=) rs374582872 0.00025
NM_004937.3(CTNS):c.444G>A (p.Met148Ile) rs199977728 0.00023
NM_005476.7(GNE):c.843C>T (p.His281=) rs138694766 0.00023
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_005476.7(GNE):c.1933+3G>A rs370730412 0.00021
NM_004937.3(CTNS):c.123C>T (p.Asn41=) rs148084080 0.00019
NM_004937.3(CTNS):c.697G>A (p.Val233Met) rs201058200 0.00018
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro) rs1314998853 0.00015
NM_001128227.3(GNE):c.51+17T>G rs144416128 0.00014
NM_004937.3(CTNS):c.332C>T (p.Pro111Leu) rs149689304 0.00014
NM_005476.7(GNE):c.21C>T (p.Asn7=) rs774610596 0.00014
NM_012434.5(SLC17A5):c.1365A>G (p.Glu455=) rs192599733 0.00014
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943 0.00013
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00013
NM_004937.3(CTNS):c.480C>T (p.Phe160=) rs147565118 0.00012
NM_005476.7(GNE):c.1620T>C (p.Leu540=) rs774849278 0.00012
NM_005476.7(GNE):c.1634-7G>A rs139442869 0.00012
NM_004937.3(CTNS):c.694C>T (p.Arg232Cys) rs138823792 0.00011
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_012434.5(SLC17A5):c.94+20A>G rs748801850 0.00011
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_004937.3(CTNS):c.556A>C (p.Ile186Leu) rs548772179 0.00009
NM_004937.3(CTNS):c.624C>T (p.Phe208=) rs771057130 0.00009
NM_004937.3(CTNS):c.684C>T (p.Arg228=) rs762346133 0.00009
NM_005476.7(GNE):c.1412-4G>A rs146067766 0.00009
NM_005476.7(GNE):c.1442G>A (p.Arg481Gln) rs138357804 0.00009
NM_005476.7(GNE):c.616+20G>C rs111358992 0.00009
NM_005476.7(GNE):c.983-4C>T rs145450498 0.00009
NM_012434.5(SLC17A5):c.703A>T (p.Thr235Ser) rs747385791 0.00009
NM_004937.3(CTNS):c.356G>A (p.Arg119His) rs375970075 0.00008
NM_004937.3(CTNS):c.461+16G>A rs201772152 0.00008
NM_004937.3(CTNS):c.633C>T (p.His211=) rs150428029 0.00008
NM_005476.7(GNE):c.1412-5C>T rs369078814 0.00008
NM_005476.7(GNE):c.165-9C>T rs760509369 0.00008
NM_005476.7(GNE):c.1651A>G (p.Ile551Val) rs754313408 0.00008
NM_004937.3(CTNS):c.80C>A (p.Thr27Asn) rs576315457 0.00007
NM_005476.7(GNE):c.1293T>A (p.Val431=) rs143485388 0.00007
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988 0.00007
NM_012434.5(SLC17A5):c.1316T>C (p.Val439Ala) rs573439155 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_004937.3(CTNS):c.29T>C (p.Ile10Thr) rs754092691 0.00006
NM_004937.3(CTNS):c.368T>G (p.Ile123Ser) rs200313254 0.00006
NM_004937.3(CTNS):c.487G>A (p.Val163Met) rs200818208 0.00006
NM_004937.3(CTNS):c.648G>A (p.Thr216=) rs772591288 0.00006
NM_004937.3(CTNS):c.830C>T (p.Thr277Met) rs757009591 0.00006
NM_005476.7(GNE):c.1070+5G>A rs374170125 0.00006
NM_005476.7(GNE):c.1242T>C (p.Leu414=) rs371881711 0.00006
NM_005476.7(GNE):c.1281+6A>T rs201025841 0.00006
NM_005476.7(GNE):c.1871C>T (p.Ala624Val) rs200278654 0.00006
NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala) rs372477546 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_012434.5(SLC17A5):c.843G>A (p.Pro281=) rs567868125 0.00006
NM_004937.3(CTNS):c.139C>T (p.Arg47Trp) rs201153770 0.00005
NM_004937.3(CTNS):c.225+19C>T rs550960394 0.00005
NM_004937.3(CTNS):c.285A>T (p.Gly95=) rs373998956 0.00005
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr) rs187396540 0.00005
NM_004937.3(CTNS):c.600C>T (p.Pro200=) rs577044481 0.00005
NM_004937.3(CTNS):c.628C>T (p.Leu210=) rs531995684 0.00005
NM_005476.7(GNE):c.23G>A (p.Arg8Gln) rs763057654 0.00005
NM_012434.5(SLC17A5):c.710G>A (p.Gly237Glu) rs374659214 0.00005
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993 0.00005
NM_012434.5(SLC17A5):c.789G>A (p.Lys263=) rs41265523 0.00005
NM_012434.5(SLC17A5):c.819+19T>C rs201859687 0.00005
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627 0.00004
NM_001128227.3(GNE):c.80G>A (p.Arg27Gln) rs759799606 0.00004
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg) rs121908127 0.00004
NM_004937.3(CTNS):c.1035C>T (p.Phe345=) rs149007536 0.00004
NM_004937.3(CTNS):c.1038C>T (p.Asp346=) rs771450572 0.00004
NM_004937.3(CTNS):c.1083G>A (p.Pro361=) rs371189196 0.00004
NM_004937.3(CTNS):c.262C>A (p.Gln88Lys) rs113875421 0.00004
NM_004937.3(CTNS):c.407T>G (p.Val136Gly) rs764372178 0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_004937.3(CTNS):c.510C>T (p.Phe170=) rs747488464 0.00004
NM_004937.3(CTNS):c.562-16C>T rs776712980 0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207 0.00004
NM_004937.3(CTNS):c.635C>T (p.Ala212Val) rs776658046 0.00004
NM_004937.3(CTNS):c.66A>C (p.Ser22=) rs748125070 0.00004
NM_004937.3(CTNS):c.682-9C>T rs943621505 0.00004
NM_004937.3(CTNS):c.69C>T (p.Ser23=) rs142642362 0.00004
NM_004937.3(CTNS):c.730G>A (p.Ala244Thr) rs559490847 0.00004
NM_004937.3(CTNS):c.852+8C>T rs780856527 0.00004
NM_004937.3(CTNS):c.853-5C>T rs979289719 0.00004
NM_004937.3(CTNS):c.921C>T (p.Thr307=) rs117654723 0.00004
NM_004937.3(CTNS):c.970+5G>A rs753451110 0.00004
NM_005476.7(GNE):c.-42-18T>C rs1359152687 0.00004
NM_005476.7(GNE):c.1020A>G (p.Gln340=) rs747807631 0.00004
NM_005476.7(GNE):c.1129A>G (p.Ile377Val) rs776568062 0.00004
NM_005476.7(GNE):c.1234G>A (p.Val412Ile) rs369714039 0.00004
NM_005476.7(GNE):c.1429C>T (p.Arg477Cys) rs551854437 0.00004
NM_005476.7(GNE):c.1572G>A (p.Ala524=) rs112824871 0.00004
NM_005476.7(GNE):c.1634-13T>C rs375600956 0.00004
NM_005476.7(GNE):c.1767A>G (p.Ala589=) rs777310871 0.00004
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140 0.00004
NM_005476.7(GNE):c.305T>C (p.Leu102Pro) rs760704097 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005476.7(GNE):c.725C>T (p.Ser242Leu) rs771167726 0.00004
NM_005476.7(GNE):c.726A>G (p.Ser242=) rs763368889 0.00004
NM_005476.7(GNE):c.765C>T (p.Asp255=) rs775805166 0.00004
NM_005476.7(GNE):c.828T>C (p.Phe276=) rs770346895 0.00004
NM_012434.5(SLC17A5):c.1426C>T (p.Leu476=) rs773917333 0.00004
NM_012434.5(SLC17A5):c.189G>A (p.Ala63=) rs924848481 0.00004
NM_012434.5(SLC17A5):c.526-4T>A rs759145883 0.00004
NM_012434.5(SLC17A5):c.614-10G>A rs565101031 0.00004
NM_012434.5(SLC17A5):c.646C>G (p.Leu216Val) rs781359811 0.00004
NM_012434.5(SLC17A5):c.704C>T (p.Thr235Ile) rs540645365 0.00004
NM_012434.5(SLC17A5):c.72G>C (p.Pro24=) rs974333245 0.00004
NM_001128227.3(GNE):c.43G>C (p.Gly15Arg) rs762425552 0.00003
NM_004937.3(CTNS):c.117G>A (p.Ser39=) rs765428193 0.00003
NM_004937.3(CTNS):c.461+8C>T rs368822078 0.00003
NM_004937.3(CTNS):c.621C>T (p.Phe207=) rs749428707 0.00003
NM_004937.3(CTNS):c.726G>C (p.Val242=) rs777045218 0.00003
NM_004937.3(CTNS):c.831G>T (p.Thr277=) rs533147998 0.00003
NM_004937.3(CTNS):c.951C>T (p.Phe317=) rs770096901 0.00003
NM_005476.7(GNE):c.1070+7A>G rs149675783 0.00003
NM_005476.7(GNE):c.1156A>C (p.Lys386Gln) rs1180382282 0.00003
NM_005476.7(GNE):c.1413C>T (p.Gly471=) rs142836733 0.00003
NM_005476.7(GNE):c.1434A>G (p.Val478=) rs1473072355 0.00003
NM_005476.7(GNE):c.1634-4G>T rs1021602666 0.00003
NM_005476.7(GNE):c.175C>T (p.Arg59Ter) rs745517517 0.00003
NM_005476.7(GNE):c.1816+4G>C rs760700813 0.00003
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) rs757523840 0.00003
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr) rs121908626 0.00003
NM_005476.7(GNE):c.1907C>T (p.Ala636Val) rs756488394 0.00003
NM_005476.7(GNE):c.2044G>A (p.Val682Ile) rs768384042 0.00003
NM_005476.7(GNE):c.2112C>T (p.Pro704=) rs779967033 0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_005476.7(GNE):c.80C>T (p.Pro27Leu) rs1236647498 0.00003
NM_005476.7(GNE):c.916C>T (p.Arg306Ter) rs1057516374 0.00003
NM_012434.5(SLC17A5):c.1192A>G (p.Ile398Val) rs374771372 0.00003
NM_012434.5(SLC17A5):c.297G>A (p.Lys99=) rs755101287 0.00003
NM_012434.5(SLC17A5):c.804A>G (p.Ser268=) rs750559102 0.00003
NM_001128227.3(GNE):c.23A>G (p.Gln8Arg) rs765794816 0.00002
NM_004937.3(CTNS):c.141-4A>C rs1437667230 0.00002
NM_004937.3(CTNS):c.187C>T (p.Arg63Cys) rs555311279 0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204 0.00002
NM_004937.3(CTNS):c.61+20G>A rs760019018 0.00002
NM_004937.3(CTNS):c.642C>G (p.Val214=) rs760843675 0.00002
NM_004937.3(CTNS):c.759C>T (p.Ile253=) rs778758718 0.00002
NM_004937.3(CTNS):c.870C>T (p.Tyr290=) rs776842972 0.00002
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp) rs150132839 0.00002
NM_005476.7(GNE):c.1030T>C (p.Leu344=) rs746461207 0.00002
NM_005476.7(GNE):c.1130del (p.Ile377fs) rs982936794 0.00002
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg) rs866841518 0.00002
NM_005476.7(GNE):c.1281+19T>C rs1220093810 0.00002
NM_005476.7(GNE):c.1319A>C (p.Lys440Thr) rs769745306 0.00002
NM_005476.7(GNE):c.1368T>A (p.Ala456=) rs779157758 0.00002
NM_005476.7(GNE):c.1408G>C (p.Val470Leu) rs749320547 0.00002
NM_005476.7(GNE):c.1598G>A (p.Gly533Glu) rs201808007 0.00002
NM_005476.7(GNE):c.1622T>C (p.Ile541Thr) rs369119154 0.00002
NM_005476.7(GNE):c.1674C>T (p.His558=) rs144931111 0.00002
NM_005476.7(GNE):c.1681T>G (p.Ser561Ala) rs776760528 0.00002
NM_005476.7(GNE):c.1714G>C (p.Val572Leu) rs121908632 0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603 0.00002
NM_005476.7(GNE):c.1816+17C>T rs756465454 0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541 0.00002
NM_005476.7(GNE):c.2029C>T (p.His677Tyr) rs527267621 0.00002
NM_005476.7(GNE):c.2061C>G (p.Ala687=) rs765296741 0.00002
NM_005476.7(GNE):c.207C>T (p.Asn69=) rs781586600 0.00002
NM_005476.7(GNE):c.297T>C (p.Leu99=) rs544304534 0.00002
NM_005476.7(GNE):c.302G>A (p.Arg101His) rs144727134 0.00002
NM_005476.7(GNE):c.32G>A (p.Arg11Gln) rs1401082365 0.00002
NM_005476.7(GNE):c.447C>T (p.Ala149=) rs772851707 0.00002
NM_005476.7(GNE):c.604C>T (p.Arg202Cys) rs756309840 0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys) rs762106720 0.00002
NM_005476.7(GNE):c.903C>T (p.Ser301=) rs777440792 0.00002
NM_012434.5(SLC17A5):c.1018T>C (p.Leu340=) rs1353171390 0.00002
NM_012434.5(SLC17A5):c.1056A>C (p.Leu352Phe) rs985998169 0.00002
NM_012434.5(SLC17A5):c.1333A>G (p.Lys445Glu) rs751011039 0.00002
NM_012434.5(SLC17A5):c.1351-8C>T rs770108730 0.00002
NM_012434.5(SLC17A5):c.1481G>C (p.Arg494Thr) rs201009218 0.00002
NM_012434.5(SLC17A5):c.1487G>A (p.Ter496=) rs1041214397 0.00002
NM_012434.5(SLC17A5):c.21C>T (p.Asp7=) rs368359854 0.00002
NM_012434.5(SLC17A5):c.291+8C>A rs766856558 0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990 0.00002
NM_012434.5(SLC17A5):c.292-4G>A rs370580788 0.00002
NM_012434.5(SLC17A5):c.39C>A (p.Gly13=) rs150836846 0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992 0.00002
NM_012434.5(SLC17A5):c.510A>C (p.Leu170=) rs971021026 0.00002
NM_012434.5(SLC17A5):c.842C>T (p.Pro281Leu) rs138041282 0.00002
NM_001128227.3(GNE):c.12T>C (p.Tyr4=) rs556904933 0.00001
NM_001128227.3(GNE):c.15T>C (p.Gly5=) rs192260997 0.00001
NM_001128227.3(GNE):c.51+12G>A rs374490097 0.00001
NM_001128227.3(GNE):c.51+18C>A rs1370632267 0.00001
NM_001128227.3(GNE):c.78A>T (p.Lys26Asn) rs767777879 0.00001
NM_004937.3(CTNS):c.1008T>G (p.Phe336Leu) rs762561354 0.00001
NM_004937.3(CTNS):c.1014C>T (p.Leu338=) rs766085355 0.00001
NM_004937.3(CTNS):c.1020C>G (p.Val340=) rs759909683 0.00001
NM_004937.3(CTNS):c.102G>A (p.Leu34=) rs2075871217 0.00001
NM_004937.3(CTNS):c.1071C>T (p.Tyr357=) rs1210146657 0.00001
NM_004937.3(CTNS):c.1080A>G (p.Arg360=) rs1244220520 0.00001
NM_004937.3(CTNS):c.1089T>C (p.Tyr363=) rs371237992 0.00001
NM_004937.3(CTNS):c.140G>A (p.Arg47Gln) rs745744798 0.00001
NM_004937.3(CTNS):c.141-6C>T rs777132924 0.00001
NM_004937.3(CTNS):c.207C>T (p.Ile69=) rs765304748 0.00001
NM_004937.3(CTNS):c.225+9C>A rs779694812 0.00001
NM_004937.3(CTNS):c.270A>T (p.Thr90=) rs754247532 0.00001
NM_004937.3(CTNS):c.333G>A (p.Pro111=) rs755169805 0.00001
NM_004937.3(CTNS):c.341G>A (p.Arg114His) rs559362332 0.00001
NM_004937.3(CTNS):c.355C>T (p.Arg119Cys) rs771990787 0.00001
NM_004937.3(CTNS):c.363C>T (p.Ser121=) rs746463725 0.00001
NM_004937.3(CTNS):c.367A>G (p.Ile123Val) rs776104111 0.00001
NM_004937.3(CTNS):c.386T>A (p.Val129Glu) rs1009882965 0.00001
NM_004937.3(CTNS):c.39C>T (p.Pro13=) rs370068809 0.00001
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) rs267606754 0.00001
NM_004937.3(CTNS):c.442A>T (p.Met148Leu) rs779895948 0.00001
NM_004937.3(CTNS):c.454C>T (p.Arg152Trp) rs754433265 0.00001
NM_004937.3(CTNS):c.462-10C>A rs765481486 0.00001
NM_004937.3(CTNS):c.462-10C>T rs765481486 0.00001
NM_004937.3(CTNS):c.525A>G (p.Val175=) rs1040347769 0.00001
NM_004937.3(CTNS):c.535G>A (p.Gly179Ser) rs752632797 0.00001
NM_004937.3(CTNS):c.588C>T (p.Asn196=) rs757955245 0.00001
NM_004937.3(CTNS):c.597C>T (p.Asn199=) rs1325554729 0.00001
NM_004937.3(CTNS):c.5T>C (p.Ile2Thr) rs768188337 0.00001
NM_004937.3(CTNS):c.609C>T (p.Ser203=) rs200273011 0.00001
NM_004937.3(CTNS):c.61+2T>C rs767289120 0.00001
NM_004937.3(CTNS):c.61+7T>C rs762701585 0.00001
NM_004937.3(CTNS):c.612C>T (p.Asn204=) rs200170842 0.00001
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn) rs113994208 0.00001
NM_004937.3(CTNS):c.615C>T (p.Asp205=) rs756137690 0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr) rs768600603 0.00001
NM_004937.3(CTNS):c.646dup (p.Thr216fs) rs893207601 0.00001
NM_004937.3(CTNS):c.660C>T (p.Ile220=) rs369227591 0.00001
NM_004937.3(CTNS):c.668del (p.Cys223fs) rs770145986 0.00001
NM_004937.3(CTNS):c.681+1G>A rs749317721 0.00001
NM_004937.3(CTNS):c.681+7C>A rs757360314 0.00001
NM_004937.3(CTNS):c.681+9A>T rs1800531 0.00001
NM_004937.3(CTNS):c.682-8G>A rs759116689 0.00001
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys) rs764538705 0.00001
NM_004937.3(CTNS):c.714C>T (p.Ile238=) rs372330647 0.00001
NM_004937.3(CTNS):c.720C>T (p.Phe240=) rs771577860 0.00001
NM_004937.3(CTNS):c.729C>T (p.Leu243=) rs762142619 0.00001
NM_004937.3(CTNS):c.732G>A (p.Ala244=) rs199518474 0.00001
NM_004937.3(CTNS):c.744A>G (p.Ala248=) rs767702551 0.00001
NM_004937.3(CTNS):c.768A>G (p.Ala256=) rs746564292 0.00001
NM_004937.3(CTNS):c.783G>A (p.Thr261=) rs377053292 0.00001
NM_004937.3(CTNS):c.789G>A (p.Leu263=) rs773808648 0.00001
NM_004937.3(CTNS):c.792G>A (p.Gln264=) rs148662747 0.00001
NM_004937.3(CTNS):c.822C>T (p.Leu274=) rs150773117 0.00001
NM_004937.3(CTNS):c.823G>A (p.Ala275Thr) rs752869556 0.00001
NM_004937.3(CTNS):c.82G>C (p.Val28Leu) rs759921102 0.00001
NM_004937.3(CTNS):c.855C>G (p.Ala285=) rs1425996808 0.00001
NM_004937.3(CTNS):c.879C>T (p.Ser293=) rs767558679 0.00001
NM_004937.3(CTNS):c.885G>A (p.Glu295=) rs752243433 0.00001
NM_004937.3(CTNS):c.897T>C (p.Ile299=) rs199824920 0.00001
NM_004937.3(CTNS):c.903C>T (p.Asn301=) rs757595884 0.00001
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) rs746307931 0.00001
NM_004937.3(CTNS):c.966C>T (p.Asn322=) rs767301567 0.00001
NM_004937.3(CTNS):c.970+14C>T rs756853653 0.00001
NM_004937.3(CTNS):c.971-8G>A rs777822023 0.00001
NM_004937.3(CTNS):c.981G>A (p.Thr327=) rs779967932 0.00001
NM_004937.3(CTNS):c.990C>T (p.Phe330=) rs544777200 0.00001
NM_005476.7(GNE):c.1008T>C (p.Asp336=) rs762803815 0.00001
NM_005476.7(GNE):c.1017C>A (p.Thr339=) rs769534184 0.00001
NM_005476.7(GNE):c.1081T>C (p.Tyr361His) rs1192630467 0.00001
NM_005476.7(GNE):c.1117T>G (p.Phe373Val) rs794727868 0.00001
NM_005476.7(GNE):c.1131C>T (p.Ile377=) rs764041731 0.00001
NM_005476.7(GNE):c.1251G>A (p.Thr417=) rs758086020 0.00001
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter) rs747199032 0.00001
NM_005476.7(GNE):c.1259G>A (p.Arg420Gln) rs780092539 0.00001
NM_005476.7(GNE):c.1276A>C (p.Met426Leu) rs750404513 0.00001
NM_005476.7(GNE):c.127G>A (p.Val43Ile) rs1223454836 0.00001
NM_005476.7(GNE):c.1287A>G (p.Glu429=) rs377382722 0.00001
NM_005476.7(GNE):c.1310T>C (p.Phe437Ser) rs370478702 0.00001
NM_005476.7(GNE):c.1313A>T (p.Asn438Ile) rs772723683 0.00001
NM_005476.7(GNE):c.1317T>C (p.Pro439=) rs773336897 0.00001
NM_005476.7(GNE):c.1325A>G (p.Tyr442Cys) rs1214437751 0.00001
NM_005476.7(GNE):c.1327G>A (p.Glu443Lys) rs1337925138 0.00001
NM_005476.7(GNE):c.1354A>G (p.Met452Val) rs746051210 0.00001
NM_005476.7(GNE):c.1411+7T>C rs1828696327 0.00001
NM_005476.7(GNE):c.1430G>A (p.Arg477His) rs776109807 0.00001
NM_005476.7(GNE):c.1464A>G (p.Ser488=) rs771209350 0.00001
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser) rs1057516798 0.00001
NM_005476.7(GNE):c.1525C>T (p.His509Tyr) rs754892377 0.00001
NM_005476.7(GNE):c.1531C>T (p.Pro511Ser) rs966918577 0.00001
NM_005476.7(GNE):c.1633+7G>A rs773608353 0.00001
NM_005476.7(GNE):c.1633+8G>A rs1028353184 0.00001
NM_005476.7(GNE):c.1634-8C>T rs756876449 0.00001
NM_005476.7(GNE):c.1638C>T (p.Ile546=) rs147768211 0.00001
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys) rs1306768272 0.00001
NM_005476.7(GNE):c.1666T>C (p.Leu556=) rs765440649 0.00001
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737 0.00001
NM_005476.7(GNE):c.1709T>C (p.Leu570Pro) rs775369694 0.00001
NM_005476.7(GNE):c.1716G>A (p.Val572=) rs1294027346 0.00001
NM_005476.7(GNE):c.1727G>A (p.Gly576Glu) rs121908625 0.00001
NM_005476.7(GNE):c.1742G>T (p.Cys581Phe) rs756926638 0.00001
NM_005476.7(GNE):c.1769A>G (p.Tyr590Cys) rs1363913351 0.00001
NM_005476.7(GNE):c.1771G>A (p.Ala591Thr) rs752286512 0.00001
NM_005476.7(GNE):c.1806G>A (p.Lys602=) rs1248336263 0.00001
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe) rs372732220 0.00001
NM_005476.7(GNE):c.1812T>C (p.His604=) rs541458680 0.00001
NM_005476.7(GNE):c.1893G>A (p.Ala631=) rs770928991 0.00001
NM_005476.7(GNE):c.1933+7A>T rs368100600 0.00001
NM_005476.7(GNE):c.1933+8T>C rs768321445 0.00001
NM_005476.7(GNE):c.1998C>T (p.Ile666=) rs932366819 0.00001
NM_005476.7(GNE):c.2003C>T (p.Ser668Phe) rs1258671706 0.00001
NM_005476.7(GNE):c.2008G>T (p.Val670Phe) rs746449874 0.00001
NM_005476.7(GNE):c.2023T>C (p.Tyr675His) rs1191857860 0.00001
NM_005476.7(GNE):c.2043C>T (p.Asp681=) rs568010488 0.00001
NM_005476.7(GNE):c.2070C>T (p.Ser690=) rs776582567 0.00001
NM_005476.7(GNE):c.2071G>A (p.Val691Met) rs763775540 0.00001
NM_005476.7(GNE):c.2073G>T (p.Val691=) rs760445653 0.00001
NM_005476.7(GNE):c.2079C>T (p.Asp693=) rs548244588 0.00001
NM_005476.7(GNE):c.2082G>C (p.Val694=) rs771658438 0.00001
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu) rs552758282 0.00001
NM_005476.7(GNE):c.2097G>A (p.Ser699=) rs200490682 0.00001
NM_005476.7(GNE):c.2113G>A (p.Ala705Thr) rs201216576 0.00001
NM_005476.7(GNE):c.2119C>T (p.Leu707=) rs750554841 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_005476.7(GNE):c.2151A>G (p.Thr717=) rs760226053 0.00001
NM_005476.7(GNE):c.240T>C (p.Asp80=) rs780405231 0.00001
NM_005476.7(GNE):c.301C>T (p.Arg101Cys) rs148523065 0.00001
NM_005476.7(GNE):c.39T>C (p.Cys13=) rs776485443 0.00001
NM_005476.7(GNE):c.455A>C (p.Lys152Thr) rs1157107103 0.00001
NM_005476.7(GNE):c.462T>A (p.Ala154=) rs778963689 0.00001
NM_005476.7(GNE):c.466T>C (p.Tyr156His) rs794727505 0.00001
NM_005476.7(GNE):c.471T>C (p.His157=) rs757524235 0.00001
NM_005476.7(GNE):c.485G>A (p.Arg162His) rs747640708 0.00001
NM_005476.7(GNE):c.526G>A (p.Asp176Asn) rs774229314 0.00001
NM_005476.7(GNE):c.529C>T (p.Arg177Cys) rs539332585 0.00001
NM_005476.7(GNE):c.530G>A (p.Arg177His) rs772597073 0.00001
NM_005476.7(GNE):c.565C>T (p.Leu189Phe) rs567208272 0.00001
NM_005476.7(GNE):c.594G>A (p.Met198Ile) rs1587339231 0.00001
NM_005476.7(GNE):c.608T>C (p.Met203Thr) rs767519361 0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476 0.00001
NM_005476.7(GNE):c.616+13G>C rs1383533734 0.00001
NM_005476.7(GNE):c.616+18T>C rs906334550 0.00001
NM_005476.7(GNE):c.616+7A>G rs761273110 0.00001
NM_005476.7(GNE):c.722T>G (p.Ile241Ser) rs759945787 0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp) rs773729410 0.00001
NM_005476.7(GNE):c.741C>T (p.Thr247=) rs770081028 0.00001
NM_005476.7(GNE):c.766G>A (p.Ala256Thr) rs375740268 0.00001
NM_005476.7(GNE):c.77C>G (p.Ala26Gly) rs1266233810 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
NM_005476.7(GNE):c.945G>A (p.Val315=) rs371362663 0.00001
NM_005476.7(GNE):c.975A>G (p.Arg325=) rs758966843 0.00001
NM_005476.7(GNE):c.999T>C (p.His333=) rs1344485866 0.00001
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs) rs386833987 0.00001
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter) rs1057516910 0.00001
NM_012434.5(SLC17A5):c.1021T>C (p.Cys341Arg) rs142972941 0.00001
NM_012434.5(SLC17A5):c.1109_1111+2del rs1767805645 0.00001
NM_012434.5(SLC17A5):c.1111+1G>A rs777862172 0.00001
NM_012434.5(SLC17A5):c.1138G>A (p.Val380Ile) rs201724072 0.00001
NM_012434.5(SLC17A5):c.1154T>C (p.Ile385Thr) rs758772703 0.00001
NM_012434.5(SLC17A5):c.1160G>C (p.Cys387Ser) rs373162864 0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_012434.5(SLC17A5):c.1259+1G>A rs146095590 0.00001
NM_012434.5(SLC17A5):c.1261T>A (p.Tyr421Asn) rs775750187 0.00001
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=) rs374241516 0.00001
NM_012434.5(SLC17A5):c.1284C>T (p.Ile428=) rs1475561276 0.00001
NM_012434.5(SLC17A5):c.12G>C (p.Pro4=) rs1769990764 0.00001
NM_012434.5(SLC17A5):c.1320G>A (p.Gly440=) rs373258092 0.00001
NM_012434.5(SLC17A5):c.1322C>T (p.Pro441Leu) rs1214170788 0.00001
NM_012434.5(SLC17A5):c.1339C>T (p.Leu447=) rs1303680695 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_012434.5(SLC17A5):c.137C>G (p.Ala46Gly) rs371810705 0.00001
NM_012434.5(SLC17A5):c.1380C>T (p.Phe460=) rs1224327278 0.00001
NM_012434.5(SLC17A5):c.1387G>A (p.Ala463Thr) rs367852327 0.00001
NM_012434.5(SLC17A5):c.1425A>G (p.Thr475=) rs763107462 0.00001
NM_012434.5(SLC17A5):c.1428A>G (p.Leu476=) rs770266444 0.00001
NM_012434.5(SLC17A5):c.1431C>T (p.Phe477=) rs1382310721 0.00001
NM_012434.5(SLC17A5):c.1446A>T (p.Val482=) rs1766733249 0.00001
NM_012434.5(SLC17A5):c.146G>T (p.Gly49Val) rs754877029 0.00001
NM_012434.5(SLC17A5):c.264T>G (p.Ala88=) rs777927222 0.00001
NM_012434.5(SLC17A5):c.336C>T (p.Leu112=) rs1367019593 0.00001
NM_012434.5(SLC17A5):c.338G>A (p.Gly113Asp) rs750771008 0.00001
NM_012434.5(SLC17A5):c.444C>G (p.Val148=) rs754150320 0.00001
NM_012434.5(SLC17A5):c.468T>C (p.Ala156=) rs760346305 0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410 0.00001
NM_012434.5(SLC17A5):c.519A>C (p.Leu173=) rs377101723 0.00001
NM_012434.5(SLC17A5):c.525+14C>T rs1033538167 0.00001
NM_012434.5(SLC17A5):c.542C>G (p.Ala181Gly) rs1303660578 0.00001
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=) rs924683894 0.00001
NM_012434.5(SLC17A5):c.645T>A (p.Pro215=) rs1253015994 0.00001
NM_012434.5(SLC17A5):c.660T>G (p.Ile220Met) rs201408081 0.00001
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs) rs1472109408 0.00001
NM_012434.5(SLC17A5):c.700+19C>A rs372789949 0.00001
NM_012434.5(SLC17A5):c.724C>A (p.Leu242Ile) rs757218186 0.00001
NM_012434.5(SLC17A5):c.762A>C (p.Lys254Asn) rs767502652 0.00001
NM_012434.5(SLC17A5):c.795_796insTT (p.Ile266fs) rs1768947811 0.00001
NM_012434.5(SLC17A5):c.820-8T>A rs963486778 0.00001
NM_012434.5(SLC17A5):c.95-13A>G rs1181668892 0.00001
NM_012434.5(SLC17A5):c.95-17C>T rs775914101 0.00001
NC_000006.11:g.(?_72596727)_(74363609_?)del
NC_000006.11:g.(?_74189435)_(74363609_?)dup
NC_000006.11:g.(?_74304780)_(74363629_?)dup
NC_000006.11:g.(?_74304790)_(74310174_?)del
NC_000006.11:g.(?_74304790)_(74354336_?)del
NC_000006.11:g.(?_74304800)_(74310184_?)dup
NC_000006.11:g.(?_74304800)_(74331705_?)del
NC_000006.11:g.(?_74310054)_(74310184_?)del
NC_000006.11:g.(?_74310064)_(74310174_?)del
NC_000006.11:g.(?_74310064)_(74310174_?)dup
NC_000006.11:g.(?_74320103)_(74320290_?)del
NC_000006.11:g.(?_74325018)_(74325190_?)del
NC_000006.11:g.(?_74331507)_(74331705_?)del
NC_000006.11:g.(?_74345095)_(74345233_?)del
NC_000006.11:g.(?_74345095)_(74346440_?)del
NC_000006.11:g.(?_74345119)_(74347569_?)del
NC_000006.11:g.(?_74354110)_(74363609_?)del
NC_000006.11:g.(?_74363496)_(74363609_?)del
NC_000006.12:g.(?_73610390)_(73615457_?)dup
NC_000006.12:g.(?_73641681)_(73644613_?)del
NC_000006.12:g.(?_73644397)_(73644613_?)del
NC_000009.11:g.(?_36217362)_(36276941_?)dup
NC_000009.11:g.(?_36227225)_(36276941_?)del
NC_000009.11:g.(?_36227235)_(36227465_?)del
NC_000009.11:g.(?_36229008)_(36236991_?)dup
NC_000009.11:g.(?_36229008)_(36249404_?)dup
NC_000009.11:g.(?_36245958)_(36249414_?)del
NC_000009.11:g.(?_36246008)_(36276941_?)del
NC_000009.11:g.(?_36246018)_(36246489_?)del
NC_000009.11:g.(?_36246018)_(36249404_?)dup
NC_000009.11:g.(?_36276871)_(36277059_?)dup
NC_000009.11:g.(?_36276881)_(36277049_?)dup
NC_000009.12:g.(?_36227238)_(36227468_?)dup
NC_000009.12:g.(?_36276884)_(36277052_?)del
NC_000017.10:g.(?_3392509)_(3571820_?)del
NC_000017.10:g.(?_3392519)_(3564038_?)del
NC_000017.10:g.(?_3504346)_(3561464_?)del
NC_000017.10:g.(?_3520391)_(3558524_?)del
NC_000017.10:g.(?_3533479)_(3571820_?)dup
NC_000017.10:g.(?_3539712)_(3543571_?)del
NC_000017.10:g.(?_3539712)_(3552235_?)del
NC_000017.10:g.(?_3539712)_(3563663_?)del
NC_000017.10:g.(?_3543501)_(3543581_?)del
NC_000017.10:g.(?_3543501)_(3552245_?)del
NC_000017.10:g.(?_3550718)_(3552245_?)dup
NC_000017.10:g.(?_3550728)_(3550826_?)del
NC_000017.10:g.(?_3558272)_(3560109_?)del
NC_000017.11:g.(?_3636418)_(3656815_?)del
NC_000017.11:g.(?_3636418)_(3658185_?)del
NC_000017.11:g.(?_3636418)_(3658195_?)del
NC_000017.11:g.(?_3647424)_(3648951_?)del
NC_000017.11:g.(?_3647434)_(3648941_?)del
NC_000017.11:g.(?_3647444)_(3658175_?)del
NC_000017.11:g.(?_3654988)_(3655362_?)del
NC_000017.11:g.(?_3657995)_(3660744_?)del
NC_000017.11:g.3659858del rs2142981161
NC_000017.11:g.3660238_3660245del
NM_001128227.3(GNE):c.18T>C (p.Tyr6=) rs200763627
NM_001128227.3(GNE):c.22C>T (p.Gln8Ter)
NM_001128227.3(GNE):c.24G>A (p.Gln8=) rs190315029
NM_001128227.3(GNE):c.26G>C (p.Arg9Thr)
NM_001128227.3(GNE):c.27G>A (p.Arg9=)
NM_001128227.3(GNE):c.30G>A (p.Glu10=) rs780649483
NM_001128227.3(GNE):c.32C>T (p.Ser11Leu)
NM_001128227.3(GNE):c.36C>G (p.Cys12Trp) rs2133208588
NM_001128227.3(GNE):c.39T>C (p.Phe13=) rs2133208583
NM_001128227.3(GNE):c.48T>A (p.Pro16=)
NM_001128227.3(GNE):c.50A>T (p.His17Leu) rs2133208557
NM_001128227.3(GNE):c.51+10T>C
NM_001128227.3(GNE):c.51+10T>G rs2133208536
NM_001128227.3(GNE):c.51+11C>T
NM_001128227.3(GNE):c.51+12G>C
NM_001128227.3(GNE):c.51+18C>T
NM_001128227.3(GNE):c.51+2T>A
NM_001128227.3(GNE):c.51+9T>C rs2133208540
NM_001128227.3(GNE):c.52G>A (p.Glu18Lys)
NM_001128227.3(GNE):c.55_62del (p.Glu18_Leu19insTer) rs2133126724
NM_001128227.3(GNE):c.57C>G (p.Leu19=) rs1830028025
NM_001128227.3(GNE):c.60T>C (p.Tyr20=) rs2133126743
NM_001128227.3(GNE):c.69C>T (p.Asn23=) rs1158058299
NM_001128227.3(GNE):c.72C>G (p.Leu24=) rs1191809976
NM_001128227.3(GNE):c.75A>G (p.Ser25=)
NM_001128227.3(GNE):c.78A>G (p.Lys26=)
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001128227.3(GNE):c.7A>G (p.Thr3Ala)
NM_001128227.3(GNE):c.7del (p.Thr3fs) rs1563966097
NM_001128227.3(GNE):c.82_83dup (p.Asn28fs) rs1554664095
NM_001128227.3(GNE):c.86A>C (p.Lys29Thr)
NM_001128227.3(GNE):c.88C>A (p.Gln30Lys)
NM_001128227.3(GNE):c.88C>T (p.Gln30Ter) rs1554664090
NM_001128227.3(GNE):c.91A>G (p.Ile31Val)
NM_004937.3(CTNS):c.1000del (p.Thr334fs) rs2142982656
NM_004937.3(CTNS):c.1002C>T (p.Thr334=)
NM_004937.3(CTNS):c.1007T>A (p.Phe336Tyr)
NM_004937.3(CTNS):c.1007T>C (p.Phe336Ser)
NM_004937.3(CTNS):c.1014C>G (p.Leu338=)
NM_004937.3(CTNS):c.1020C>T (p.Val340=) rs759909683
NM_004937.3(CTNS):c.1029C>A (p.Ile343=) rs147428183
NM_004937.3(CTNS):c.1029C>T (p.Ile343=) rs147428183
NM_004937.3(CTNS):c.1036G>A (p.Asp346Asn)
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)
NM_004937.3(CTNS):c.1041C>G (p.Val347=) rs779369414
NM_004937.3(CTNS):c.1041C>T (p.Val347=) rs779369414
NM_004937.3(CTNS):c.1042G>A (p.Val348Ile)
NM_004937.3(CTNS):c.1045T>G (p.Phe349Val) rs748094459
NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del) rs2076255711
NM_004937.3(CTNS):c.1053C>T (p.Ile351=) rs2142982938
NM_004937.3(CTNS):c.1059C>T (p.His353=)
NM_004937.3(CTNS):c.105G>A (p.Glu35=) rs2150904680
NM_004937.3(CTNS):c.1077G>A (p.Lys359=) rs2142983047
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu) rs560868487
NM_004937.3(CTNS):c.1086G>A (p.Gly362=) rs1055176574
NM_004937.3(CTNS):c.1086G>T (p.Gly362=)
NM_004937.3(CTNS):c.108C>G (p.Asn36Lys)
NM_004937.3(CTNS):c.117G>C (p.Ser39=) rs765428193
NM_004937.3(CTNS):c.117G>T (p.Ser39=)
NM_004937.3(CTNS):c.122A>C (p.Asn41Thr)
NM_004937.3(CTNS):c.12T>C (p.Asn4=) rs550375830
NM_004937.3(CTNS):c.132C>T (p.Leu44=) rs756058217
NM_004937.3(CTNS):c.135C>A (p.Thr45=)
NM_004937.3(CTNS):c.140+10T>C
NM_004937.3(CTNS):c.140+10_140+11del rs755167662
NM_004937.3(CTNS):c.140+11G>A
NM_004937.3(CTNS):c.140+12G>C
NM_004937.3(CTNS):c.140+15C>T rs2150904807
NM_004937.3(CTNS):c.140+19C>T
NM_004937.3(CTNS):c.140+1G>A
NM_004937.3(CTNS):c.140+1G>T rs1567701415
NM_004937.3(CTNS):c.140+1del rs2150904759
NM_004937.3(CTNS):c.140+20G>A
NM_004937.3(CTNS):c.140+2T>C rs2075872773
NM_004937.3(CTNS):c.140+6T>C
NM_004937.3(CTNS):c.140+9C>T rs1567701450
NM_004937.3(CTNS):c.141-14C>T
NM_004937.3(CTNS):c.141-16C>T
NM_004937.3(CTNS):c.141-1G>A rs2075906916
NM_004937.3(CTNS):c.141-20T>C
NM_004937.3(CTNS):c.141-24T>C
NM_004937.3(CTNS):c.141-24_141-18del
NM_004937.3(CTNS):c.141-4A>G rs1437667230
NM_004937.3(CTNS):c.141-8C>T rs768912772
NM_004937.3(CTNS):c.150A>G (p.Leu50=)
NM_004937.3(CTNS):c.152_153insCT (p.Ala52fs) rs2150906974
NM_004937.3(CTNS):c.156A>G (p.Ala52=) rs1597623923
NM_004937.3(CTNS):c.159C>T (p.Thr53=) rs769818124
NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)
NM_004937.3(CTNS):c.162G>C (p.Leu54=)
NM_004937.3(CTNS):c.171T>G (p.Thr57=)
NM_004937.3(CTNS):c.180C>T (p.Ile60=)
NM_004937.3(CTNS):c.183A>G (p.Thr61=)
NM_004937.3(CTNS):c.188G>T (p.Arg63Leu)
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.191C>G (p.Ser64Cys) rs1454743016
NM_004937.3(CTNS):c.198T>C (p.Asn66=)
NM_004937.3(CTNS):c.1A>G (p.Met1Val)
NM_004937.3(CTNS):c.1A>T (p.Met1Leu) rs2075650925
NM_004937.3(CTNS):c.204T>C (p.Thr68=)
NM_004937.3(CTNS):c.204del (p.Ile69fs)
NM_004937.3(CTNS):c.206_210del (p.Ile69fs) rs879758262
NM_004937.3(CTNS):c.219C>G (p.Pro73=)
NM_004937.3(CTNS):c.219C>T (p.Pro73=) rs2150907083
NM_004937.3(CTNS):c.221A>G (p.Asp74Gly)
NM_004937.3(CTNS):c.222T>C (p.Asp74=) rs1597624144
NM_004937.3(CTNS):c.225+10C>A rs2150907128
NM_004937.3(CTNS):c.225+11A>G
NM_004937.3(CTNS):c.225+12A>G
NM_004937.3(CTNS):c.225+1G>A rs1555561049
NM_004937.3(CTNS):c.225+20G>A
NM_004937.3(CTNS):c.225+3A>G rs2075909295
NM_004937.3(CTNS):c.225+3A>T
NM_004937.3(CTNS):c.225+5G>A
NM_004937.3(CTNS):c.225+5_225+6delinsCC rs786204541
NM_004937.3(CTNS):c.225+5_225+8del rs1555561048
NM_004937.3(CTNS):c.225+7A>T
NM_004937.3(CTNS):c.225+9C>G
NM_004937.3(CTNS):c.226-11C>T
NM_004937.3(CTNS):c.226-13dup
NM_004937.3(CTNS):c.226-14A>C
NM_004937.3(CTNS):c.226-15C>T
NM_004937.3(CTNS):c.226-1G>C
NM_004937.3(CTNS):c.226-6dup
NM_004937.3(CTNS):c.226-7C>G
NM_004937.3(CTNS):c.226-7C>T rs2076091750
NM_004937.3(CTNS):c.226-8C>T rs2150918919
NM_004937.3(CTNS):c.226del
NM_004937.3(CTNS):c.22A>G (p.Ile8Val)
NM_004937.3(CTNS):c.246G>A (p.Val82=) rs2150918993
NM_004937.3(CTNS):c.248C>T (p.Thr83Ile) rs1295370570
NM_004937.3(CTNS):c.257_258del (p.Ser86fs) rs879255614
NM_004937.3(CTNS):c.274C>T (p.Gln92Ter) rs2150919035
NM_004937.3(CTNS):c.278A>G (p.Asn93Ser)
NM_004937.3(CTNS):c.27del (p.Phe9fs) rs2150888913
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)
NM_004937.3(CTNS):c.288A>G (p.Gln96=)
NM_004937.3(CTNS):c.289C>T (p.Leu97Phe)
NM_004937.3(CTNS):c.292dup (p.Thr98fs) rs786204434
NM_004937.3(CTNS):c.294T>G (p.Thr98=)
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter) rs376042415
NM_004937.3(CTNS):c.300T>C (p.Tyr100=) rs376042415
NM_004937.3(CTNS):c.306T>C (p.His102=) rs2076094603
NM_004937.3(CTNS):c.30C>A (p.Ile10=) rs2075651822
NM_004937.3(CTNS):c.311A>G (p.Asn104Ser)
NM_004937.3(CTNS):c.314_317del (p.His105fs)
NM_004937.3(CTNS):c.323del (p.Gln108fs) rs879255615
NM_004937.3(CTNS):c.328G>A (p.Gly110Ser)
NM_004937.3(CTNS):c.329+10C>T rs2150919178
NM_004937.3(CTNS):c.329+13C>T
NM_004937.3(CTNS):c.329+14_329+15del
NM_004937.3(CTNS):c.329+1G>A
NM_004937.3(CTNS):c.330-16C>T
NM_004937.3(CTNS):c.330-18C>T
NM_004937.3(CTNS):c.330-20G>A
NM_004937.3(CTNS):c.330-9_330-7del rs2150919428
NM_004937.3(CTNS):c.340_348del (p.Arg114_Leu116del)
NM_004937.3(CTNS):c.343_354del (p.Phe115_Ile118del) rs2150919478
NM_004937.3(CTNS):c.354C>T (p.Ile118=) rs2150919502
NM_004937.3(CTNS):c.359G>A (p.Ser120Asn) rs2076099606
NM_004937.3(CTNS):c.365C>T (p.Ala122Val) rs2076099841
NM_004937.3(CTNS):c.366C>T (p.Ala122=)
NM_004937.3(CTNS):c.372C>T (p.Ser124=)
NM_004937.3(CTNS):c.375C>T (p.Ile125=) rs1277785045
NM_004937.3(CTNS):c.376A>G (p.Ile126Val)
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_004937.3(CTNS):c.387G>A (p.Val129=) rs2150919602
NM_004937.3(CTNS):c.399C>G (p.Ile133Met)
NM_004937.3(CTNS):c.405dup (p.Val136fs)
NM_004937.3(CTNS):c.40C>T (p.Leu14=)
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer) rs1555558099
NM_004937.3(CTNS):c.410C>A (p.Ala137Asp) rs1413852868
NM_004937.3(CTNS):c.411C>T (p.Ala137=)
NM_004937.3(CTNS):c.415T>C (p.Ser139Pro)
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe) rs1436441738
NM_004937.3(CTNS):c.426C>T (p.Phe142=) rs2150919725
NM_004937.3(CTNS):c.428A>G (p.Tyr143Cys)
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter) rs1597647930
NM_004937.3(CTNS):c.433C>T (p.Gln145Ter) rs2076101632
NM_004937.3(CTNS):c.441C>T (p.Ile147=) rs2150919757
NM_004937.3(CTNS):c.447T>C (p.Asn149=)
NM_004937.3(CTNS):c.449G>A (p.Trp150Ter) rs2076101974
NM_004937.3(CTNS):c.453G>A (p.Arg151=) rs2150919797
NM_004937.3(CTNS):c.455G>A (p.Arg152Gln)
NM_004937.3(CTNS):c.460A>C (p.Ser154Arg)
NM_004937.3(CTNS):c.461+13G>A
NM_004937.3(CTNS):c.461+15C>T
NM_004937.3(CTNS):c.461+16G>C
NM_004937.3(CTNS):c.461+17T>C
NM_004937.3(CTNS):c.461+19T>A
NM_004937.3(CTNS):c.461+19T>C
NM_004937.3(CTNS):c.461+20G>A
NM_004937.3(CTNS):c.462-12C>T
NM_004937.3(CTNS):c.462-17C>T
NM_004937.3(CTNS):c.462-47_462-7del
NM_004937.3(CTNS):c.462-6C>T
NM_004937.3(CTNS):c.462-8C>A
NM_004937.3(CTNS):c.462-95_462-19del
NM_004937.3(CTNS):c.462-9C>T
NM_004937.3(CTNS):c.465C>T (p.Val155=)
NM_004937.3(CTNS):c.474G>A (p.Leu158=)
NM_004937.3(CTNS):c.477C>T (p.Ser159=) rs2150922529
NM_004937.3(CTNS):c.486C>T (p.Phe162=) rs1335640588
NM_004937.3(CTNS):c.489G>C (p.Val163=) rs2150922571
NM_004937.3(CTNS):c.48C>T (p.Leu16=)
NM_004937.3(CTNS):c.49G>A (p.Val17Ile)
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp) rs121908126
NM_004937.3(CTNS):c.513G>A (p.Val171=)
NM_004937.3(CTNS):c.514G>T (p.Ala172Ser)
NM_004937.3(CTNS):c.517T>C (p.Tyr173His)
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys) rs1555563446
NM_004937.3(CTNS):c.525A>C (p.Val175=)
NM_004937.3(CTNS):c.531C>T (p.Asn177=) rs2150922708
NM_004937.3(CTNS):c.532A>G (p.Ile178Val)
NM_004937.3(CTNS):c.537C>G (p.Gly179=) rs1033509163
NM_004937.3(CTNS):c.537C>T (p.Gly179=)
NM_004937.3(CTNS):c.539_551del (p.Leu180fs) rs2150922730
NM_004937.3(CTNS):c.540C>T (p.Leu180=)
NM_004937.3(CTNS):c.544T>C (p.Trp182Arg) rs764168489
NM_004937.3(CTNS):c.545G>A (p.Trp182Ter)
NM_004937.3(CTNS):c.546G>T (p.Trp182Cys) rs2150922764
NM_004937.3(CTNS):c.54G>C (p.Glu18Asp)
NM_004937.3(CTNS):c.552C>T (p.Pro184=) rs2150922782
NM_004937.3(CTNS):c.555C>T (p.Tyr185=)
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.561+12C>T
NM_004937.3(CTNS):c.561+15G>A
NM_004937.3(CTNS):c.561+18C>T
NM_004937.3(CTNS):c.561+1del rs786204667
NM_004937.3(CTNS):c.561+3A>G
NM_004937.3(CTNS):c.561+7C>G rs1230869706
NM_004937.3(CTNS):c.561+7C>T
NM_004937.3(CTNS):c.561+8C>G rs2150922813
NM_004937.3(CTNS):c.561+8C>T
NM_004937.3(CTNS):c.562-11C>T
NM_004937.3(CTNS):c.562-14C>T
NM_004937.3(CTNS):c.562-15C>T
NM_004937.3(CTNS):c.562-17T>C
NM_004937.3(CTNS):c.562-18C>A
NM_004937.3(CTNS):c.562-1G>C
NM_004937.3(CTNS):c.562-4A>T rs761366500
NM_004937.3(CTNS):c.562-8C>T rs1194962259
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter) rs1597654770
NM_004937.3(CTNS):c.573C>T (p.Leu191=)
NM_004937.3(CTNS):c.588C>A (p.Asn196Lys)
NM_004937.3(CTNS):c.592G>T (p.Val198Leu)
NM_004937.3(CTNS):c.603G>C (p.Val201=) rs912410408
NM_004937.3(CTNS):c.606C>T (p.Asn202=) rs2150923073
NM_004937.3(CTNS):c.61+10G>T
NM_004937.3(CTNS):c.61+17C>G
NM_004937.3(CTNS):c.61+19C>A
NM_004937.3(CTNS):c.61+19C>T
NM_004937.3(CTNS):c.61+1G>T rs1555558116
NM_004937.3(CTNS):c.61+5G>A rs1407498555
NM_004937.3(CTNS):c.61+8T>G rs2150889028
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del) rs760256854
NM_004937.3(CTNS):c.616G>A (p.Val206Ile)
NM_004937.3(CTNS):c.619TTC[1] (p.Phe208del) rs1555563619
NM_004937.3(CTNS):c.61G>T (p.Glu21Ter) rs2150889009
NM_004937.3(CTNS):c.61_61+2del rs2075652654
NM_004937.3(CTNS):c.62-13del
NM_004937.3(CTNS):c.62-14T>G
NM_004937.3(CTNS):c.62-19T>C
NM_004937.3(CTNS):c.62-1G>A rs1597619719
NM_004937.3(CTNS):c.62-1G>T rs1597619719
NM_004937.3(CTNS):c.62-5T>C
NM_004937.3(CTNS):c.62-8C>T rs2150904561
NM_004937.3(CTNS):c.636G>A (p.Ala212=)
NM_004937.3(CTNS):c.645C>T (p.Leu215=)
NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)
NM_004937.3(CTNS):c.649C>T (p.Leu217=)
NM_004937.3(CTNS):c.64T>A (p.Ser22Thr)
NM_004937.3(CTNS):c.651G>A (p.Leu217=) rs762581003
NM_004937.3(CTNS):c.651G>C (p.Leu217=) rs762581003
NM_004937.3(CTNS):c.666G>A (p.Gln222=) rs2076159145
NM_004937.3(CTNS):c.673C>T (p.Leu225=)
NM_004937.3(CTNS):c.675G>A (p.Leu225=)
NM_004937.3(CTNS):c.677A>G (p.Tyr226Cys)
NM_004937.3(CTNS):c.681+11C>T
NM_004937.3(CTNS):c.681+12C>G
NM_004937.3(CTNS):c.681+15G>T
NM_004937.3(CTNS):c.681+16dup
NM_004937.3(CTNS):c.681+17C>T
NM_004937.3(CTNS):c.681+19C>A
NM_004937.3(CTNS):c.681+19C>T
NM_004937.3(CTNS):c.681+22del
NM_004937.3(CTNS):c.681+2dup
NM_004937.3(CTNS):c.681+5G>A
NM_004937.3(CTNS):c.681G>A (p.Glu227=) rs778414542
NM_004937.3(CTNS):c.681G>C (p.Glu227Asp)
NM_004937.3(CTNS):c.682-10T>A
NM_004937.3(CTNS):c.682-11C>T
NM_004937.3(CTNS):c.682-16C>T
NM_004937.3(CTNS):c.682-1G>T rs1057516771
NM_004937.3(CTNS):c.682-2A>C
NM_004937.3(CTNS):c.682-3del
NM_004937.3(CTNS):c.682-3dup rs2150924916
NM_004937.3(CTNS):c.682-5C>A
NM_004937.3(CTNS):c.682-6C>T
NM_004937.3(CTNS):c.683G>T (p.Arg228Leu) rs754201055
NM_004937.3(CTNS):c.685G>A (p.Gly229Ser) rs200336280
NM_004937.3(CTNS):c.685G>T (p.Gly229Cys) rs200336280
NM_004937.3(CTNS):c.686_699del (p.Gly229fs)
NM_004937.3(CTNS):c.690C>G (p.Gly230=)
NM_004937.3(CTNS):c.691C>A (p.Gln231Lys) rs1463026342
NM_004937.3(CTNS):c.696C>G (p.Arg232=) rs529381598
NM_004937.3(CTNS):c.696_697dup (p.Val233fs) rs1555563982
NM_004937.3(CTNS):c.696dup (p.Val233fs) rs113994209
NM_004937.3(CTNS):c.699G>A (p.Val233=) rs2076195866
NM_004937.3(CTNS):c.699_700del (p.Ser234fs) rs766981777
NM_004937.3(CTNS):c.70G>A (p.Val24Ile)
NM_004937.3(CTNS):c.711C>T (p.Ala237=)
NM_004937.3(CTNS):c.715G>A (p.Gly239Ser)
NM_004937.3(CTNS):c.721C>T (p.Leu241=) rs775072561
NM_004937.3(CTNS):c.722T>C (p.Leu241Pro)
NM_004937.3(CTNS):c.729C>G (p.Leu243=) rs762142619
NM_004937.3(CTNS):c.732G>T (p.Ala244=) rs199518474
NM_004937.3(CTNS):c.735G>A (p.Trp245Ter) rs2150925108
NM_004937.3(CTNS):c.738C>G (p.Leu246=) rs2076197055
NM_004937.3(CTNS):c.741C>T (p.Phe247=)
NM_004937.3(CTNS):c.751A>G (p.Thr251Ala)
NM_004937.3(CTNS):c.751_752del (p.Thr251fs)
NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu) rs1567713916
NM_004937.3(CTNS):c.768dup (p.Val257fs) rs1567713938
NM_004937.3(CTNS):c.76C>T (p.Leu26Phe)
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004937.3(CTNS):c.777G>A (p.Val259=)
NM_004937.3(CTNS):c.783G>T (p.Thr261=)
NM_004937.3(CTNS):c.78C>G (p.Leu26=)
NM_004937.3(CTNS):c.790C>T (p.Gln264Ter) rs2076198741
NM_004937.3(CTNS):c.790_791del (p.Gln264fs) rs2076198775
NM_004937.3(CTNS):c.794T>C (p.Phe265Ser)
NM_004937.3(CTNS):c.798C>A (p.Leu266=) rs1567714017
NM_004937.3(CTNS):c.798C>T (p.Leu266=) rs1567714017
NM_004937.3(CTNS):c.809C>T (p.Ser270Phe) rs2150925336
NM_004937.3(CTNS):c.810C>G (p.Ser270=)
NM_004937.3(CTNS):c.814A>C (p.Ile272Leu)
NM_004937.3(CTNS):c.817A>G (p.Lys273Glu) rs2076199463
NM_004937.3(CTNS):c.819G>A (p.Lys273=) rs2150925362
NM_004937.3(CTNS):c.81T>C (p.Thr27=)
NM_004937.3(CTNS):c.825A>G (p.Ala275=) rs904979100
NM_004937.3(CTNS):c.829A>G (p.Thr277Ala)
NM_004937.3(CTNS):c.829dup (p.Thr277fs) rs752919200
NM_004937.3(CTNS):c.82_83del (p.Val28fs) rs2150904623
NM_004937.3(CTNS):c.831G>A (p.Thr277=) rs533147998
NM_004937.3(CTNS):c.834G>C (p.Leu278=)
NM_004937.3(CTNS):c.834G>T (p.Leu278=) rs139519275
NM_004937.3(CTNS):c.838A>C (p.Lys280Gln) rs2076200184
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg) rs2150925451
NM_004937.3(CTNS):c.841dup (p.Tyr281fs) rs1411094034
NM_004937.3(CTNS):c.843T>C (p.Tyr281=) rs2076200273
NM_004937.3(CTNS):c.852+10G>A
NM_004937.3(CTNS):c.852+13C>T
NM_004937.3(CTNS):c.852+14C>G
NM_004937.3(CTNS):c.852+14C>T
NM_004937.3(CTNS):c.852+14_852+15del
NM_004937.3(CTNS):c.852+14_852+34del
NM_004937.3(CTNS):c.852+17G>A
NM_004937.3(CTNS):c.852+19T>A
NM_004937.3(CTNS):c.852+1G>A rs2150925483
NM_004937.3(CTNS):c.852+20C>T
NM_004937.3(CTNS):c.853-10_853-7del rs1198120476
NM_004937.3(CTNS):c.853-11G>A
NM_004937.3(CTNS):c.853-13C>G
NM_004937.3(CTNS):c.853-16C>G
NM_004937.3(CTNS):c.853-16C>T
NM_004937.3(CTNS):c.853-18_853-7del
NM_004937.3(CTNS):c.853-1G>A rs1555564588
NM_004937.3(CTNS):c.853-2A>G rs1475322504
NM_004937.3(CTNS):c.853-6G>T rs775425630
NM_004937.3(CTNS):c.853-8T>C
NM_004937.3(CTNS):c.858C>T (p.Tyr286=)
NM_004937.3(CTNS):c.85_86del (p.Pro29fs)
NM_004937.3(CTNS):c.860T>C (p.Met287Thr)
NM_004937.3(CTNS):c.869A>C (p.Tyr290Ser)
NM_004937.3(CTNS):c.86C>T (p.Pro29Leu)
NM_004937.3(CTNS):c.878G>A (p.Ser293Asn)
NM_004937.3(CTNS):c.888C>T (p.Gly296=)
NM_004937.3(CTNS):c.88C>T (p.Pro30Ser)
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter) rs917630768
NM_004937.3(CTNS):c.900C>T (p.Gly300=)
NM_004937.3(CTNS):c.902A>G (p.Asn301Ser)
NM_004937.3(CTNS):c.906G>C (p.Val302=)
NM_004937.3(CTNS):c.909C>T (p.Leu303=) rs1252160181
NM_004937.3(CTNS):c.90T>C (p.Pro30=) rs2075870364
NM_004937.3(CTNS):c.911T>C (p.Leu304Pro)
NM_004937.3(CTNS):c.912G>A (p.Leu304=)
NM_004937.3(CTNS):c.914A>G (p.Asp305Gly) rs1263951539
NM_004937.3(CTNS):c.918C>T (p.Phe306=)
NM_004937.3(CTNS):c.922G>C (p.Gly308Arg) rs746307931
NM_004937.3(CTNS):c.923G>T (p.Gly308Val)
NM_004937.3(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_004937.3(CTNS):c.930C>T (p.Ser310=) rs1262456716
NM_004937.3(CTNS):c.936C>T (p.Ser312=)
NM_004937.3(CTNS):c.936_945del (p.Ser312fs)
NM_004937.3(CTNS):c.938T>A (p.Leu313His)
NM_004937.3(CTNS):c.93C>T (p.Val31=) rs772569260
NM_004937.3(CTNS):c.943C>T (p.Gln315Ter)
NM_004937.3(CTNS):c.948G>A (p.Met316Ile)
NM_004937.3(CTNS):c.954C>T (p.Leu318=) rs2142981648
NM_004937.3(CTNS):c.969C>G (p.Asn323Lys) rs121908128
NM_004937.3(CTNS):c.969C>T (p.Asn323=) rs121908128
NM_004937.3(CTNS):c.970+10C>T
NM_004937.3(CTNS):c.970+15_970+21del
NM_004937.3(CTNS):c.970+9G>A rs1159271531
NM_004937.3(CTNS):c.970+9G>T
NM_004937.3(CTNS):c.971-12G>A rs375952052
NM_004937.3(CTNS):c.971-12G>C
NM_004937.3(CTNS):c.971-13C>T
NM_004937.3(CTNS):c.971-13dup
NM_004937.3(CTNS):c.971-15C>T
NM_004937.3(CTNS):c.971-16C>G
NM_004937.3(CTNS):c.971-16C>T
NM_004937.3(CTNS):c.971-17C>T
NM_004937.3(CTNS):c.971-19G>T
NM_004937.3(CTNS):c.971-6T>G
NM_004937.3(CTNS):c.971-8_971-6del
NM_004937.3(CTNS):c.972C>T (p.Asp324=)
NM_004937.3(CTNS):c.975G>A (p.Gln325=)
NM_004937.3(CTNS):c.976T>A (p.Trp326Arg)
NM_004937.3(CTNS):c.976T>C (p.Trp326Arg)
NM_004937.3(CTNS):c.980C>T (p.Thr327Met)
NM_004937.3(CTNS):c.981G>T (p.Thr327=)
NM_004937.3(CTNS):c.982C>G (p.Leu328Val)
NM_004937.3(CTNS):c.985A>G (p.Ile329Val)
NM_004937.3(CTNS):c.987C>T (p.Ile329=) rs2142982610
NM_004937.3(CTNS):c.999A>G (p.Pro333=)
NM_004937.3(CTNS):c.99G>A (p.Lys33=) rs2150904661
NM_005476.7(GNE):c.-42-3C>T rs764657091
NM_005476.7(GNE):c.-42-6T>C
NM_005476.7(GNE):c.1002C>T (p.Val334=)
NM_005476.7(GNE):c.1016C>T (p.Thr339Ile)
NM_005476.7(GNE):c.1017C>T (p.Thr339=) rs769534184
NM_005476.7(GNE):c.1018C>T (p.Gln340Ter) rs983424324
NM_005476.7(GNE):c.101C>G (p.Thr34Ser)
NM_005476.7(GNE):c.101C>T (p.Thr34Ile)
NM_005476.7(GNE):c.1020A>C (p.Gln340His) rs747807631
NM_005476.7(GNE):c.1023C>T (p.Asp341=) rs768446059
NM_005476.7(GNE):c.1029A>G (p.Ile343Met) rs1829027391
NM_005476.7(GNE):c.102C>A (p.Thr34=)
NM_005476.7(GNE):c.102C>T (p.Thr34=) rs147290887
NM_005476.7(GNE):c.1032G>A (p.Leu344=)
NM_005476.7(GNE):c.1038A>G (p.Ala346=)
NM_005476.7(GNE):c.1039C>T (p.Leu347=) rs2133049484
NM_005476.7(GNE):c.1045_1046insAAACTGCACC (p.Leu349fs) rs1829026390
NM_005476.7(GNE):c.1048C>T (p.Gln350Ter) rs1276168825
NM_005476.7(GNE):c.105A>G (p.Glu35=) rs2133126073
NM_005476.7(GNE):c.1060C>T (p.Gln354Ter)
NM_005476.7(GNE):c.1065C>T (p.Tyr355=)
NM_005476.7(GNE):c.1070+2dup rs886043636
NM_005476.7(GNE):c.1071-11del
NM_005476.7(GNE):c.1071-1G>A
NM_005476.7(GNE):c.1071-2A>C
NM_005476.7(GNE):c.1071-4G>T rs567349676
NM_005476.7(GNE):c.1071-6T>C
NM_005476.7(GNE):c.1075A>C (p.Lys359Gln)
NM_005476.7(GNE):c.1078A>T (p.Ile360Leu)
NM_005476.7(GNE):c.107C>A (p.Pro36His)
NM_005476.7(GNE):c.1082A>T (p.Tyr361Phe)
NM_005476.7(GNE):c.1097C>A (p.Ala366Asp) rs1442235130
NM_005476.7(GNE):c.1111T>C (p.Leu371=) rs1305905839
NM_005476.7(GNE):c.1112del (p.Ile370_Leu371insTer) rs2133042191
NM_005476.7(GNE):c.1113G>A (p.Leu371=)
NM_005476.7(GNE):c.111G>A (p.Glu37=)
NM_005476.7(GNE):c.1122C>G (p.Leu374=)
NM_005476.7(GNE):c.1124A>C (p.Lys375Thr) rs1828924556
NM_005476.7(GNE):c.1124A>T (p.Lys375Ile)
NM_005476.7(GNE):c.1126T>C (p.Ser376Pro) rs1554659760
NM_005476.7(GNE):c.1127C>T (p.Ser376Phe)
NM_005476.7(GNE):c.112T>C (p.Phe38Leu)
NM_005476.7(GNE):c.1134T>A (p.Asp378Glu)
NM_005476.7(GNE):c.1139_1140insTAGCCTATAATTTAACTTTGACAAAGTTATGAAATGGTTTTTCTAATACCTTTTTGAAAAAGTCATGGAGGCCATGGGGTTGGCTTGAAACCAGCTTTGGGGGGTTCGATTCCTTCCTTTTTTGTCTAGATTTTATGTATACGGGTTCTTCGAATGTGTGGTTCA (p.Gln380delinsHisSerLeuTer)
NM_005476.7(GNE):c.1146A>G (p.Pro382=)
NM_005476.7(GNE):c.1146A>T (p.Pro382=) rs2133041945
NM_005476.7(GNE):c.1149G>A (p.Leu383=)
NM_005476.7(GNE):c.114C>G (p.Phe38Leu) rs921673560
NM_005476.7(GNE):c.1155G>A (p.Lys385=)
NM_005476.7(GNE):c.1158A>T (p.Lys386Asn) rs1828920194
NM_005476.7(GNE):c.1162T>C (p.Cys388Arg) rs2133041837
NM_005476.7(GNE):c.1165T>C (p.Phe389Leu)
NM_005476.7(GNE):c.1179G>A (p.Lys393=)
NM_005476.7(GNE):c.1185T>A (p.Asn395Lys)
NM_005476.7(GNE):c.118G>A (p.Glu40Lys)
NM_005476.7(GNE):c.1191T>G (p.Ser397=)
NM_005476.7(GNE):c.1200T>C (p.Ile400=) rs1173945551
NM_005476.7(GNE):c.1220T>C (p.Leu407Pro)
NM_005476.7(GNE):c.1220dup (p.Ser408fs) rs2133041569
NM_005476.7(GNE):c.1227C>G (p.Ala409=) rs1828914515
NM_005476.7(GNE):c.1231G>C (p.Ala411Pro)
NM_005476.7(GNE):c.1233C>T (p.Ala411=) rs1057523203
NM_005476.7(GNE):c.1235T>C (p.Val412Ala)
NM_005476.7(GNE):c.1236T>G (p.Val412=) rs1587294795
NM_005476.7(GNE):c.1245C>A (p.Gly415=) rs140784655
NM_005476.7(GNE):c.1262T>C (p.Val421Ala) rs1057516364
NM_005476.7(GNE):c.1264G>A (p.Ala422Thr) rs1828910974
NM_005476.7(GNE):c.1264G>C (p.Ala422Pro)
NM_005476.7(GNE):c.1266A>C (p.Ala422=) rs2133041296
NM_005476.7(GNE):c.1269A>T (p.Ile423=) rs1261239311
NM_005476.7(GNE):c.1276A>G (p.Met426Val) rs750404513
NM_005476.7(GNE):c.1277T>C (p.Met426Thr)
NM_005476.7(GNE):c.1281+10C>T
NM_005476.7(GNE):c.1281+11T>G
NM_005476.7(GNE):c.1281+11del
NM_005476.7(GNE):c.1281+13C>A rs1022557448
NM_005476.7(GNE):c.1281+13C>G
NM_005476.7(GNE):c.1281+13C>T
NM_005476.7(GNE):c.1281+15A>G
NM_005476.7(GNE):c.1281+18C>A
NM_005476.7(GNE):c.1281+18C>T
NM_005476.7(GNE):c.1281+7T>G
NM_005476.7(GNE):c.1281+8A>G
NM_005476.7(GNE):c.1281G>A (p.Lys427=) rs1554659670
NM_005476.7(GNE):c.1282-14G>A
NM_005476.7(GNE):c.1282-14_1282-12del
NM_005476.7(GNE):c.1282-15_1282-14insGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-16T>C
NM_005476.7(GNE):c.1282-16T>G
NM_005476.7(GNE):c.1282-17_1282-16insGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-17_1282-16insGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-17_1282-16insGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18T>C rs764072134
NM_005476.7(GNE):c.1282-18_1282-17insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG rs778206973
NM_005476.7(GNE):c.1282-18_1282-17insCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-19T>C
NM_005476.7(GNE):c.1282-3_1282-2insGTTGTTTTCTCTTTTTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-3_1282-2insGTTGTTTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTGGTTGTGGGGGTTGGGGCCCGGGGGGACTGGGGGACGGGGGGGAGCAATCTCGGGGAACGTCCTCGTACGGGTNNNNNNNNNNCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-7C>G
NM_005476.7(GNE):c.1282-7C>T
NM_005476.7(GNE):c.1282-7_1282-6insGTTGTTTTCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAAGGAGTAAAGCAATGTGGCCCAGGCGGGCCTGCGGAGTGGATTTGGGCAAAAACGGCTCAAAGCAANNNNNNNNNNCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-7_1282-6insGTTGTTTTCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-9C>G
NM_005476.7(GNE):c.1282G>A (p.Gly428Ser) rs767409392
NM_005476.7(GNE):c.1285G>A (p.Glu429Lys) rs1828703850
NM_005476.7(GNE):c.1302T>C (p.Tyr434=) rs886044498
NM_005476.7(GNE):c.1304C>T (p.Thr435Ile) rs1563930778
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter) rs786204558
NM_005476.7(GNE):c.1308G>A (p.Gln436=) rs2133024862
NM_005476.7(GNE):c.1311C>T (p.Phe437=) rs1554659051
NM_005476.7(GNE):c.1312A>G (p.Asn438Asp) rs2133024785
NM_005476.7(GNE):c.1323C>A (p.Thr441=) rs2133024607
NM_005476.7(GNE):c.1323C>T (p.Thr441=)
NM_005476.7(GNE):c.1326T>C (p.Tyr442=)
NM_005476.7(GNE):c.1332G>C (p.Glu444Asp) rs1554659040
NM_005476.7(GNE):c.1345A>G (p.Ile449Val)
NM_005476.7(GNE):c.1350A>G (p.Leu450=)
NM_005476.7(GNE):c.135A>G (p.Val45=) rs2133125932
NM_005476.7(GNE):c.1361T>C (p.Val454Ala) rs2133024315
NM_005476.7(GNE):c.1362G>C (p.Val454=)
NM_005476.7(GNE):c.1365A>G (p.Glu455=) rs2133024264
NM_005476.7(GNE):c.1369G>A (p.Ala457Thr) rs2133024204
NM_005476.7(GNE):c.1373C>T (p.Ala458Val)
NM_005476.7(GNE):c.1377A>C (p.Glu459Asp)
NM_005476.7(GNE):c.1387C>G (p.Leu463Val)
NM_005476.7(GNE):c.1387C>T (p.Leu463=)
NM_005476.7(GNE):c.1411+10_1411+11del rs2133023892
NM_005476.7(GNE):c.1411+13A>G
NM_005476.7(GNE):c.1411+1G>C
NM_005476.7(GNE):c.1411+7T>G
NM_005476.7(GNE):c.1411G>A (p.Gly471Ser) rs2133023974
NM_005476.7(GNE):c.1412-11G>A
NM_005476.7(GNE):c.1412-20G>C rs751339818
NM_005476.7(GNE):c.1412-4G>C
NM_005476.7(GNE):c.1414A>G (p.Ile472Val)
NM_005476.7(GNE):c.1417del (p.Ser473fs) rs1057516965
NM_005476.7(GNE):c.1419C>G (p.Ser473=) rs2133022403
NM_005476.7(GNE):c.1426G>A (p.Gly476Ser) rs2133022363
NM_005476.7(GNE):c.1427G>T (p.Gly476Val) rs1828675355
NM_005476.7(GNE):c.1441C>T (p.Arg481Trp)
NM_005476.7(GNE):c.1447G>A (p.Gly483Arg) rs2133022218
NM_005476.7(GNE):c.1460A>G (p.His487Arg)
NM_005476.7(GNE):c.1461T>C (p.His487=)
NM_005476.7(GNE):c.1466C>T (p.Thr489Ile)
NM_005476.7(GNE):c.1467C>T (p.Thr489=) rs1235105944
NM_005476.7(GNE):c.1468A>T (p.Lys490Ter) rs1554658955
NM_005476.7(GNE):c.1470A>G (p.Lys490=)
NM_005476.7(GNE):c.1471C>T (p.Leu491=)
NM_005476.7(GNE):c.1475T>A (p.Ile492Asn) rs1563930321
NM_005476.7(GNE):c.1476C>G (p.Ile492Met)
NM_005476.7(GNE):c.1476C>T (p.Ile492=)
NM_005476.7(GNE):c.1477C>T (p.Gln493Ter)
NM_005476.7(GNE):c.1479A>C (p.Gln493His)
NM_005476.7(GNE):c.147C>T (p.His49=) rs974552839
NM_005476.7(GNE):c.1482G>A (p.Glu494=) rs1485580233
NM_005476.7(GNE):c.1488C>T (p.Asn496=)
NM_005476.7(GNE):c.1500T>A (p.Leu500=) rs2133021961
NM_005476.7(GNE):c.1501_1529del (p.Arg501fs) rs1554658924
NM_005476.7(GNE):c.1508C>G (p.Pro503Arg)
NM_005476.7(GNE):c.1509C>A (p.Pro503=)
NM_005476.7(GNE):c.1510C>G (p.Leu504Val)
NM_005476.7(GNE):c.1510dup (p.Leu504fs) rs1828669338
NM_005476.7(GNE):c.1520C>T (p.Thr507Ile)
NM_005476.7(GNE):c.1522T>C (p.Leu508=) rs2133021847
NM_005476.7(GNE):c.1532_1533delinsAA (p.Pro511Gln) rs1828666773
NM_005476.7(GNE):c.1534G>T (p.Val512Leu) rs1279384333
NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
NM_005476.7(GNE):c.1546A>C (p.Asn516His) rs1563930141
NM_005476.7(GNE):c.1546_1547del (p.Asp515_Asn516insTer) rs1828665576
NM_005476.7(GNE):c.1563T>C (p.Ala521=) rs2133021324
NM_005476.7(GNE):c.1564G>T (p.Ala522Ser) rs2133021306
NM_005476.7(GNE):c.1565C>T (p.Ala522Val) rs1563930123
NM_005476.7(GNE):c.1567C>A (p.Leu523Met) rs1554658905
NM_005476.7(GNE):c.1567C>T (p.Leu523=)
NM_005476.7(GNE):c.1569G>C (p.Leu523=)
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.1572G>C (p.Ala524=)
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys) rs986773986
NM_005476.7(GNE):c.1587C>T (p.Gly529=)
NM_005476.7(GNE):c.1590A>G (p.Gln530=) rs2133021114
NM_005476.7(GNE):c.1594A>G (p.Lys532Glu)
NM_005476.7(GNE):c.159C>T (p.Asp53=) rs1830018253
NM_005476.7(GNE):c.1600C>T (p.Leu534=)
NM_005476.7(GNE):c.1602G>A (p.Leu534=) rs2133020974
NM_005476.7(GNE):c.1613T>C (p.Val538Ala)
NM_005476.7(GNE):c.1614T>A (p.Val538=) rs2133020873
NM_005476.7(GNE):c.162T>C (p.Tyr54=) rs756575824
NM_005476.7(GNE):c.1632A>G (p.Thr544=) rs2133020714
NM_005476.7(GNE):c.1633+10G>A rs1332613836
NM_005476.7(GNE):c.1633+10G>T rs1332613836
NM_005476.7(GNE):c.1633+11T>C
NM_005476.7(GNE):c.1633+12A>G
NM_005476.7(GNE):c.1633+12del
NM_005476.7(GNE):c.1633+14G>A rs748208582
NM_005476.7(GNE):c.1633+15G>T
NM_005476.7(GNE):c.1633+17dup
NM_005476.7(GNE):c.1633+6_1633+7del rs764024703
NM_005476.7(GNE):c.1633+7G>C rs773608353
NM_005476.7(GNE):c.1633+8G>C rs1028353184
NM_005476.7(GNE):c.1633G>A (p.Gly545Arg) rs1024068004
NM_005476.7(GNE):c.1634-10C>T
NM_005476.7(GNE):c.1634-11C>T
NM_005476.7(GNE):c.1634-13T>G
NM_005476.7(GNE):c.1634-14A>G
NM_005476.7(GNE):c.1634-16C>T
NM_005476.7(GNE):c.1634-20A>T
NM_005476.7(GNE):c.1634-3T>C rs2133007346
NM_005476.7(GNE):c.1634-4G>C
NM_005476.7(GNE):c.1634-6C>A
NM_005476.7(GNE):c.1634-7G>C rs139442869
NM_005476.7(GNE):c.1638C>A (p.Ile546=) rs147768211
NM_005476.7(GNE):c.1639G>A (p.Gly547Ser) rs1306768272
NM_005476.7(GNE):c.164+16T>C
NM_005476.7(GNE):c.164+19C>T
NM_005476.7(GNE):c.164+7T>C
NM_005476.7(GNE):c.164+8G>A rs2133125796
NM_005476.7(GNE):c.1643del (p.Gly548fs) rs2133007268
NM_005476.7(GNE):c.165-12C>G
NM_005476.7(GNE):c.165-12C>T
NM_005476.7(GNE):c.165-5T>C
NM_005476.7(GNE):c.165-6C>G rs2133114327
NM_005476.7(GNE):c.1655A>G (p.His552Arg)
NM_005476.7(GNE):c.1660C>T (p.His554Tyr)
NM_005476.7(GNE):c.1664A>C (p.Glu555Ala)
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr) rs886043979
NM_005476.7(GNE):c.1671C>T (p.Ile557=) rs1587277726
NM_005476.7(GNE):c.1678A>C (p.Ser560Arg)
NM_005476.7(GNE):c.1684T>G (p.Phe562Val)
NM_005476.7(GNE):c.1686del (p.Cys563fs) rs886044449
NM_005476.7(GNE):c.1689T>C (p.Cys563=) rs768667610
NM_005476.7(GNE):c.1690del (p.Ala564fs) rs2133007032
NM_005476.7(GNE):c.1692T>G (p.Ala564=) rs1393386221
NM_005476.7(GNE):c.1703G>C (p.Gly568Ala) rs1419793175
NM_005476.7(GNE):c.1708C>G (p.Leu570Val)
NM_005476.7(GNE):c.1710TGT[1] (p.Val572del) rs762796465
NM_005476.7(GNE):c.1717T>A (p.Ser573Thr) rs2133006773
NM_005476.7(GNE):c.171A>G (p.Thr57=)
NM_005476.7(GNE):c.1723G>C (p.Asp575His)
NM_005476.7(GNE):c.172T>C (p.Tyr58His)
NM_005476.7(GNE):c.1730C>G (p.Pro577Arg) rs1828512489
NM_005476.7(GNE):c.1732G>C (p.Asp578His)
NM_005476.7(GNE):c.1740del (p.Cys581fs) rs1554658453
NM_005476.7(GNE):c.1749C>T (p.Ser583=)
NM_005476.7(GNE):c.174_177dup (p.Met60fs) rs2133114222
NM_005476.7(GNE):c.1752T>C (p.His584=) rs1368954364
NM_005476.7(GNE):c.1755G>C (p.Gly585=)
NM_005476.7(GNE):c.1759A>G (p.Ile587Val)
NM_005476.7(GNE):c.175C>A (p.Arg59=)
NM_005476.7(GNE):c.1762G>A (p.Glu588Lys) rs2133006485
NM_005476.7(GNE):c.1767A>T (p.Ala589=)
NM_005476.7(GNE):c.176G>A (p.Arg59Gln) rs1829880006
NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter) rs111302956
NM_005476.7(GNE):c.1775_1786del (p.Ser592_Ala595del) rs1828507134
NM_005476.7(GNE):c.1788G>A (p.Leu596=)
NM_005476.7(GNE):c.1789C>T (p.Gln597Ter) rs2133006228
NM_005476.7(GNE):c.1791G>A (p.Gln597=) rs1828506261
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs) rs1436850036
NM_005476.7(GNE):c.1794G>A (p.Arg598=)
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.1804A>C (p.Lys602Gln) rs2133006002
NM_005476.7(GNE):c.1816+11del rs886063925
NM_005476.7(GNE):c.1816+15C>G
NM_005476.7(GNE):c.1816+18G>A
NM_005476.7(GNE):c.1816+3_1816+6del rs1828502461
NM_005476.7(GNE):c.1816+4G>T
NM_005476.7(GNE):c.1816+5G>A rs2133005844
NM_005476.7(GNE):c.1816+7G>A
NM_005476.7(GNE):c.1816+8T>G
NM_005476.7(GNE):c.1816+9C>A
NM_005476.7(GNE):c.1817-10C>T rs2132997852
NM_005476.7(GNE):c.1817-11_1817-8del rs769454562
NM_005476.7(GNE):c.1817-12C>G
NM_005476.7(GNE):c.1817-12C>T
NM_005476.7(GNE):c.1817-14C>T
NM_005476.7(GNE):c.1817-18C>A
NM_005476.7(GNE):c.1817-2A>G
NM_005476.7(GNE):c.1817-4T>G
NM_005476.7(GNE):c.1821C>T (p.Asp607=)
NM_005476.7(GNE):c.1828T>C (p.Leu610=) rs2132997736
NM_005476.7(GNE):c.182_185del (p.Ile61fs)
NM_005476.7(GNE):c.1831G>A (p.Val611Met) rs2132997717
NM_005476.7(GNE):c.1833G>A (p.Val611=) rs2132997684
NM_005476.7(GNE):c.1839G>A (p.Gly613=) rs2132997665
NM_005476.7(GNE):c.1857T>C (p.Asp619=) rs1587273465
NM_005476.7(GNE):c.1858G>A (p.Glu620Lys)
NM_005476.7(GNE):c.185A>C (p.Glu62Ala) rs2133114144
NM_005476.7(GNE):c.1863T>C (p.Ala621=)
NM_005476.7(GNE):c.1872G>T (p.Ala624=)
NM_005476.7(GNE):c.1878T>C (p.His626=)
NM_005476.7(GNE):c.1881C>T (p.Leu627=)
NM_005476.7(GNE):c.1882A>C (p.Ile628Leu)
NM_005476.7(GNE):c.1897C>A (p.Leu633Ile)
NM_005476.7(GNE):c.1905T>C (p.Asn635=)
NM_005476.7(GNE):c.190G>C (p.Asp64His) rs2133114110
NM_005476.7(GNE):c.1911G>T (p.Lys637Asn)
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter) rs886042195
NM_005476.7(GNE):c.1921A>G (p.Ile641Val) rs2132996877
NM_005476.7(GNE):c.1926_1927insCGGCCCAGAGCATCCTA (p.Arg643_Thr644insProArgAlaSerTer)
NM_005476.7(GNE):c.192T>C (p.Asp64=) rs2133114091
NM_005476.7(GNE):c.1933+11G>C
NM_005476.7(GNE):c.1933+12G>A
NM_005476.7(GNE):c.1933+13C>T
NM_005476.7(GNE):c.1933+15G>A
NM_005476.7(GNE):c.1933+17A>C
NM_005476.7(GNE):c.1933+19G>A
NM_005476.7(GNE):c.1933+1G>C
NM_005476.7(GNE):c.1933+7A>C rs368100600
NM_005476.7(GNE):c.1933+7A>G rs368100600
NM_005476.7(GNE):c.1933+8_1933+17dup
NM_005476.7(GNE):c.1934-10C>T
NM_005476.7(GNE):c.1934-11T>C
NM_005476.7(GNE):c.1934-11T>G
NM_005476.7(GNE):c.1934-12G>T
NM_005476.7(GNE):c.1934-17T>C
NM_005476.7(GNE):c.1934-20T>G
NM_005476.7(GNE):c.1934-4A>G rs2132994193
NM_005476.7(GNE):c.1934-6C>T
NM_005476.7(GNE):c.1934-7C>T rs1387525049
NM_005476.7(GNE):c.1934-8C>T rs2132994218
NM_005476.7(GNE):c.1937G>C (p.Gly646Ala) rs1291163446
NM_005476.7(GNE):c.1938A>T (p.Gly646=)
NM_005476.7(GNE):c.1945T>C (p.Leu649=) rs1045540608
NM_005476.7(GNE):c.1949G>A (p.Gly650Asp) rs1299435942
NM_005476.7(GNE):c.1956G>T (p.Gly652=)
NM_005476.7(GNE):c.1965C>T (p.Asn655=)
NM_005476.7(GNE):c.1968C>A (p.Ile656=)
NM_005476.7(GNE):c.1971C>A (p.Leu657=) rs2132993854
NM_005476.7(GNE):c.1973del (p.His658fs)
NM_005476.7(GNE):c.1982A>G (p.Asn661Ser) rs765173992
NM_005476.7(GNE):c.1985C>T (p.Pro662Leu)
NM_005476.7(GNE):c.1989C>A (p.Ser663=) rs2132993686
NM_005476.7(GNE):c.1989C>T (p.Ser663=) rs2132993686
NM_005476.7(GNE):c.1990del (p.Leu664_Val665insTer)
NM_005476.7(GNE):c.2005_2011del (p.Gly669fs) rs2132993345
NM_005476.7(GNE):c.2007A>T (p.Gly669=)
NM_005476.7(GNE):c.2024A>G (p.Tyr675Cys)
NM_005476.7(GNE):c.2025T>A (p.Tyr675Ter)
NM_005476.7(GNE):c.2025T>C (p.Tyr675=) rs1479027996
NM_005476.7(GNE):c.2033T>C (p.Ile678Thr)
NM_005476.7(GNE):c.2038A>G (p.Lys680Glu)
NM_005476.7(GNE):c.204T>C (p.Ile68=)
NM_005476.7(GNE):c.2050C>A (p.Arg684Ser) rs139347806
NM_005476.7(GNE):c.2050C>T (p.Arg684Cys) rs139347806
NM_005476.7(GNE):c.2051G>A (p.Arg684His)
NM_005476.7(GNE):c.2055G>A (p.Gln685=)
NM_005476.7(GNE):c.2061C>T (p.Ala687=)
NM_005476.7(GNE):c.2066C>T (p.Ser689Phe)
NM_005476.7(GNE):c.2073G>A (p.Val691=) rs760445653
NM_005476.7(GNE):c.2080G>A (p.Val694Met)
NM_005476.7(GNE):c.2085T>C (p.Asp695=) rs2132992452
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.208A>G (p.Thr70Ala)
NM_005476.7(GNE):c.2093T>C (p.Val698Ala) rs1587270856
NM_005476.7(GNE):c.2095T>A (p.Ser699Thr) rs1828371895
NM_005476.7(GNE):c.2097G>C (p.Ser699=) rs200490682
NM_005476.7(GNE):c.2105T>A (p.Val702Asp)
NM_005476.7(GNE):c.2109C>A (p.Asp703Glu)
NM_005476.7(GNE):c.2118G>A (p.Leu706=) rs1554657933
NM_005476.7(GNE):c.2118G>T (p.Leu706=)
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.2121G>C (p.Leu707=)
NM_005476.7(GNE):c.2127T>C (p.Ala709=) rs1282905700
NM_005476.7(GNE):c.2129C>T (p.Ala710Val)
NM_005476.7(GNE):c.212G>A (p.Arg71Lys)
NM_005476.7(GNE):c.2135del (p.Met712fs)
NM_005476.7(GNE):c.213G>A (p.Arg71=)
NM_005476.7(GNE):c.2142G>A (p.Leu714=)
NM_005476.7(GNE):c.2142G>T (p.Leu714=)
NM_005476.7(GNE):c.2150C>G (p.Thr717Arg)
NM_005476.7(GNE):c.2160G>A (p.Arg720=)
NM_005476.7(GNE):c.221_222del (p.Thr74fs) rs2133113896
NM_005476.7(GNE):c.225_227del (p.Ile75_Val76delinsMet) rs1156580753
NM_005476.7(GNE):c.22C>T (p.Arg8Ter) rs766420673
NM_005476.7(GNE):c.238G>T (p.Asp80Tyr)
NM_005476.7(GNE):c.243G>A (p.Glu81=)
NM_005476.7(GNE):c.246A>G (p.Ala82=) rs2133113710
NM_005476.7(GNE):c.247G>A (p.Ala83Thr) rs1482972274
NM_005476.7(GNE):c.253G>A (p.Val85Met)
NM_005476.7(GNE):c.255G>A (p.Val85=) rs2133113626
NM_005476.7(GNE):c.257A>C (p.Glu86Ala) rs2133113605
NM_005476.7(GNE):c.265G>A (p.Gly89Ser) rs1829875828
NM_005476.7(GNE):c.267C>G (p.Gly89=)
NM_005476.7(GNE):c.267C>T (p.Gly89=)
NM_005476.7(GNE):c.276A>C (p.Leu92=)
NM_005476.7(GNE):c.297T>G (p.Leu99=) rs544304534
NM_005476.7(GNE):c.29T>C (p.Leu10Pro) rs1830024227
NM_005476.7(GNE):c.303C>G (p.Arg101=)
NM_005476.7(GNE):c.315T>C (p.Asp105=) rs886063927
NM_005476.7(GNE):c.31C>T (p.Arg11Trp) rs769716748
NM_005476.7(GNE):c.323T>C (p.Ile108Thr) rs2133113113
NM_005476.7(GNE):c.325G>A (p.Val109Ile) rs2133113097
NM_005476.7(GNE):c.329A>G (p.His110Arg) rs886043739
NM_005476.7(GNE):c.330T>C (p.His110=) rs2133113028
NM_005476.7(GNE):c.348C>T (p.Ala116=)
NM_005476.7(GNE):c.350T>C (p.Leu117Pro)
NM_005476.7(GNE):c.363A>G (p.Thr121=)
NM_005476.7(GNE):c.366T>C (p.Ser122=) rs1421322802
NM_005476.7(GNE):c.385C>G (p.Arg129Gly)
NM_005476.7(GNE):c.385C>T (p.Arg129Ter) rs372872777
NM_005476.7(GNE):c.386G>A (p.Arg129Gln) rs748704459
NM_005476.7(GNE):c.388del (p.Ile130fs) rs1423445315
NM_005476.7(GNE):c.38G>C (p.Cys13Ser) rs1209266607
NM_005476.7(GNE):c.397_398dup (p.Glu134fs) rs1829869628
NM_005476.7(GNE):c.417T>C (p.Ser139=)
NM_005476.7(GNE):c.420G>A (p.Gly140=) rs2133112706
NM_005476.7(GNE):c.425T>C (p.Ile142Thr) rs1829868500
NM_005476.7(GNE):c.428A>G (p.Asp143Gly)
NM_005476.7(GNE):c.432C>T (p.Asp144=) rs2133112638
NM_005476.7(GNE):c.436A>G (p.Ile146Val) rs2133112591
NM_005476.7(GNE):c.43G>A (p.Ala15Thr) rs2133126317
NM_005476.7(GNE):c.441A>G (p.Arg147=)
NM_005476.7(GNE):c.443A>G (p.His148Arg)
NM_005476.7(GNE):c.444T>C (p.His148=)
NM_005476.7(GNE):c.454_616+70delinsTAG rs2133111012
NM_005476.7(GNE):c.463dup (p.His155fs)
NM_005476.7(GNE):c.467A>G (p.Tyr156Cys) rs2133112366
NM_005476.7(GNE):c.469C>A (p.His157Asn) rs1587339749
NM_005476.7(GNE):c.46A>G (p.Thr16Ala)
NM_005476.7(GNE):c.470_471del (p.His157fs) rs1554663368
NM_005476.7(GNE):c.474G>A (p.Val158=)
NM_005476.7(GNE):c.474G>C (p.Val158=) rs753803897
NM_005476.7(GNE):c.480C>T (p.Cys160=) rs1360990295
NM_005476.7(GNE):c.484C>T (p.Arg162Cys) rs769215411
NM_005476.7(GNE):c.489T>C (p.Ser163=)
NM_005476.7(GNE):c.495G>A (p.Glu165=) rs2133112122
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005476.7(GNE):c.501C>A (p.His167Gln) rs1554663342
NM_005476.7(GNE):c.512T>C (p.Met171Thr)
NM_005476.7(GNE):c.538T>C (p.Leu180=) rs2133111925
NM_005476.7(GNE):c.540_553del (p.Leu180fs)
NM_005476.7(GNE):c.548G>C (p.Cys183Ser)
NM_005476.7(GNE):c.549C>T (p.Cys183=)
NM_005476.7(GNE):c.54C>T (p.Asn18=) rs1406781067
NM_005476.7(GNE):c.556T>C (p.Tyr186His)
NM_005476.7(GNE):c.55C>T (p.Arg19Cys)
NM_005476.7(GNE):c.574G>A (p.Ala192Thr)
NM_005476.7(GNE):c.581A>G (p.Asn194Ser)
NM_005476.7(GNE):c.586G>C (p.Asp196His) rs2133111701
NM_005476.7(GNE):c.588C>T (p.Asp196=)
NM_005476.7(GNE):c.591C>T (p.Tyr197=) rs2133111680
NM_005476.7(GNE):c.597C>A (p.Ser199Arg)
NM_005476.7(GNE):c.597C>T (p.Ser199=)
NM_005476.7(GNE):c.5A>G (p.Glu2Gly) rs1830025657
NM_005476.7(GNE):c.601_604dup (p.Arg202fs) rs886042120
NM_005476.7(GNE):c.602T>A (p.Ile201Asn) rs1829857314
NM_005476.7(GNE):c.605G>A (p.Arg202His)
NM_005476.7(GNE):c.607A>G (p.Met203Val) rs1269845468
NM_005476.7(GNE):c.616+15C>A rs1002961152
NM_005476.7(GNE):c.616+1G>A
NM_005476.7(GNE):c.616+3A>G
NM_005476.7(GNE):c.616+4C>T
NM_005476.7(GNE):c.616+5G>A
NM_005476.7(GNE):c.616G>A (p.Gly206Ser) rs766266918
NM_005476.7(GNE):c.617-13T>C rs1266835565
NM_005476.7(GNE):c.617-1G>A rs1256419231
NM_005476.7(GNE):c.617G>A (p.Gly206Asp)
NM_005476.7(GNE):c.620ATG[1] (p.Asp208del) rs1554661574
NM_005476.7(GNE):c.622G>A (p.Asp208Asn)
NM_005476.7(GNE):c.623A>C (p.Asp208Ala)
NM_005476.7(GNE):c.636dup (p.Asp213fs) rs1057517094
NM_005476.7(GNE):c.638A>T (p.Asp213Val) rs1554661565
NM_005476.7(GNE):c.63T>C (p.Asp21=)
NM_005476.7(GNE):c.642C>T (p.Tyr214=)
NM_005476.7(GNE):c.648T>G (p.Val216=) rs375728173
NM_005476.7(GNE):c.654A>G (p.Leu218=)
NM_005476.7(GNE):c.655C>T (p.Gln219Ter) rs1057516906
NM_005476.7(GNE):c.660C>T (p.His220=) rs2133078408
NM_005476.7(GNE):c.680dup (p.His228fs) rs1554661552
NM_005476.7(GNE):c.681G>A (p.Lys227=) rs201894560
NM_005476.7(GNE):c.688A>G (p.Ile230Val)
NM_005476.7(GNE):c.694del (p.Met232fs) rs1554661549
NM_005476.7(GNE):c.695T>C (p.Met232Thr) rs761468890
NM_005476.7(GNE):c.709T>C (p.Leu237=) rs2133078170
NM_005476.7(GNE):c.711G>A (p.Leu237=) rs724159957
NM_005476.7(GNE):c.712del (p.Asp238fs)
NM_005476.7(GNE):c.721A>C (p.Ile241Leu) rs763729254
NM_005476.7(GNE):c.723C>T (p.Ile241=)
NM_005476.7(GNE):c.723_727del (p.Ile241_Ser242insTer) rs2133078032
NM_005476.7(GNE):c.734A>C (p.Lys245Thr)
NM_005476.7(GNE):c.737G>T (p.Arg246Leu) rs121908629
NM_005476.7(GNE):c.73C>T (p.Leu25Phe) rs373398528
NM_005476.7(GNE):c.749T>A (p.Leu250Gln)
NM_005476.7(GNE):c.750G>A (p.Leu250=)
NM_005476.7(GNE):c.753T>C (p.Phe251=) rs370479900
NM_005476.7(GNE):c.759T>C (p.Asn253=)
NM_005476.7(GNE):c.769+10C>T
NM_005476.7(GNE):c.769+14A>C
NM_005476.7(GNE):c.769+19G>A
NM_005476.7(GNE):c.769+3dup rs756817842
NM_005476.7(GNE):c.769+4A>G rs886063926
NM_005476.7(GNE):c.769+7G>A rs2133077826
NM_005476.7(GNE):c.769+8A>C
NM_005476.7(GNE):c.76_77delinsTT (p.Ala26Phe)
NM_005476.7(GNE):c.770-16_770-15insA
NM_005476.7(GNE):c.770-20G>A
NM_005476.7(GNE):c.770-20G>T
NM_005476.7(GNE):c.770-20_770-19del
NM_005476.7(GNE):c.770-8_770-3del
NM_005476.7(GNE):c.771G>A (p.Gly257=)
NM_005476.7(GNE):c.780G>A (p.Glu260=)
NM_005476.7(GNE):c.787C>T (p.Arg263Ter) rs200643106
NM_005476.7(GNE):c.788G>A (p.Arg263Gln)
NM_005476.7(GNE):c.78C>G (p.Ala26=)
NM_005476.7(GNE):c.794T>C (p.Met265Thr) rs2133068813
NM_005476.7(GNE):c.795G>T (p.Met265Ile) rs1829295633
NM_005476.7(GNE):c.797G>A (p.Arg266Gln) rs121908622
NM_005476.7(GNE):c.798G>A (p.Arg266=) rs2133068760
NM_005476.7(GNE):c.798del (p.Lys267fs)
NM_005476.7(GNE):c.79C>T (p.Pro27Ser) rs1554664064
NM_005476.7(GNE):c.807C>T (p.Gly269=)
NM_005476.7(GNE):c.81G>A (p.Pro27=) rs768397785
NM_005476.7(GNE):c.820C>G (p.Pro274Ala)
NM_005476.7(GNE):c.830G>A (p.Arg277His)
NM_005476.7(GNE):c.831T>C (p.Arg277=) rs1367695782
NM_005476.7(GNE):c.840A>G (p.Lys280=)
NM_005476.7(GNE):c.844G>A (p.Val282Ile)
NM_005476.7(GNE):c.851T>C (p.Phe284Ser) rs1563938450
NM_005476.7(GNE):c.856C>T (p.Gln286Ter) rs1057516746
NM_005476.7(GNE):c.85A>G (p.Met29Val) rs1830021401
NM_005476.7(GNE):c.862A>G (p.Ile288Val)
NM_005476.7(GNE):c.865C>T (p.Gln289Ter)
NM_005476.7(GNE):c.869T>A (p.Leu290Ter)
NM_005476.7(GNE):c.879T>C (p.His293=)
NM_005476.7(GNE):c.884G>C (p.Gly295Ala)
NM_005476.7(GNE):c.884G>T (p.Gly295Val)
NM_005476.7(GNE):c.887G>A (p.Cys296Tyr)
NM_005476.7(GNE):c.894T>C (p.Ile298=) rs1277539567
NM_005476.7(GNE):c.900C>T (p.Asn300=)
NM_005476.7(GNE):c.934G>A (p.Gly312Arg)
NM_005476.7(GNE):c.942T>C (p.Pro314=) rs2133068079
NM_005476.7(GNE):c.951C>T (p.Asn317=) rs1456510873
NM_005476.7(GNE):c.952C>G (p.Leu318Val) rs1554661032
NM_005476.7(GNE):c.952C>T (p.Leu318=)
NM_005476.7(GNE):c.952_953del (p.Leu318fs) rs2133068002
NM_005476.7(GNE):c.965A>G (p.Gln322Arg) rs2133067920
NM_005476.7(GNE):c.976G>A (p.Glu326Lys) rs2133067896
NM_005476.7(GNE):c.976G>T (p.Glu326Ter)
NM_005476.7(GNE):c.980C>T (p.Thr327Ile)
NM_005476.7(GNE):c.982+13G>C
NM_005476.7(GNE):c.982+17A>G
NM_005476.7(GNE):c.982+19A>C
NM_005476.7(GNE):c.982+2T>A rs2133067872
NM_005476.7(GNE):c.982+3del rs1587313110
NM_005476.7(GNE):c.982+6T>C rs2133067848
NM_005476.7(GNE):c.982+9C>T rs1829282969
NM_005476.7(GNE):c.983-16C>T
NM_005476.7(GNE):c.983-7T>C
NM_005476.7(GNE):c.983-8T>G
NM_005476.7(GNE):c.984G>A (p.Gly328=) rs2133049807
NM_005476.7(GNE):c.985G>T (p.Glu329Ter)
NM_005476.7(GNE):c.987G>A (p.Glu329=) rs2133049764
NM_005476.7(GNE):c.994C>A (p.Leu332Ile) rs2133049738
NM_005476.7(GNE):c.997dup (p.His333fs) rs2133049724
NM_005476.7(GNE):c.9G>A (p.Lys3=) rs2133126488
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110
NM_012434.5(SLC17A5):c.1008A>G (p.Leu336=)
NM_012434.5(SLC17A5):c.1019dup (p.Leu340fs)
NM_012434.5(SLC17A5):c.1023T>C (p.Cys341=)
NM_012434.5(SLC17A5):c.1032G>A (p.Leu344=) rs2150091563
NM_012434.5(SLC17A5):c.1039C>T (p.Gln347Ter)
NM_012434.5(SLC17A5):c.1050C>T (p.Asp350=)
NM_012434.5(SLC17A5):c.1086del (p.Cys362fs)
NM_012434.5(SLC17A5):c.1087G>A (p.Val363Ile) rs2150091513
NM_012434.5(SLC17A5):c.1092C>T (p.Arg364=)
NM_012434.5(SLC17A5):c.1095A>G (p.Arg365=)
NM_012434.5(SLC17A5):c.10C>G (p.Pro4Ala)
NM_012434.5(SLC17A5):c.1111+10G>A
NM_012434.5(SLC17A5):c.1111+15C>G
NM_012434.5(SLC17A5):c.1111+16A>G
NM_012434.5(SLC17A5):c.1111+17G>A
NM_012434.5(SLC17A5):c.1111+1G>T rs777862172
NM_012434.5(SLC17A5):c.1111+8A>T
NM_012434.5(SLC17A5):c.1111+9A>G
NM_012434.5(SLC17A5):c.1111+9A>T
NM_012434.5(SLC17A5):c.1112-12T>C
NM_012434.5(SLC17A5):c.1112-12_1112-5del rs2150086759
NM_012434.5(SLC17A5):c.1112-14C>T
NM_012434.5(SLC17A5):c.1112-16A>T
NM_012434.5(SLC17A5):c.1112-8A>C rs1581962639
NM_012434.5(SLC17A5):c.1112-9T>A
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs) rs1057517119
NM_012434.5(SLC17A5):c.1131A>G (p.Val377=) rs2150086727
NM_012434.5(SLC17A5):c.1131A>T (p.Val377=)
NM_012434.5(SLC17A5):c.1137G>C (p.Leu379=)
NM_012434.5(SLC17A5):c.1140A>C (p.Val380=) rs2150086711
NM_012434.5(SLC17A5):c.1141G>C (p.Ala381Pro)
NM_012434.5(SLC17A5):c.1143T>A (p.Ala381=)
NM_012434.5(SLC17A5):c.1149C>T (p.Gly383=)
NM_012434.5(SLC17A5):c.114T>C (p.Ala38=)
NM_012434.5(SLC17A5):c.1153A>G (p.Ile385Val)
NM_012434.5(SLC17A5):c.1161T>C (p.Cys387=)
NM_012434.5(SLC17A5):c.1167T>C (p.Tyr389=) rs1054309453
NM_012434.5(SLC17A5):c.1176C>A (p.Ala392=)
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=) rs372195490
NM_012434.5(SLC17A5):c.1182T>C (p.Ala394=)
NM_012434.5(SLC17A5):c.1197A>C (p.Ser399=)
NM_012434.5(SLC17A5):c.1201A>G (p.Thr401Ala)
NM_012434.5(SLC17A5):c.1202C>T (p.Thr401Ile)
NM_012434.5(SLC17A5):c.120C>T (p.Tyr40=)
NM_012434.5(SLC17A5):c.1215T>C (p.Phe405=) rs2150086614
NM_012434.5(SLC17A5):c.1223del (p.Ser408fs) rs868677428
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu) rs386833989
NM_012434.5(SLC17A5):c.1250T>C (p.Ile417Thr)
NM_012434.5(SLC17A5):c.1254T>C (p.Ala418=)
NM_012434.5(SLC17A5):c.1259+11A>G
NM_012434.5(SLC17A5):c.1259+12T>C
NM_012434.5(SLC17A5):c.1259+14_1259+15del
NM_012434.5(SLC17A5):c.1259+18G>A
NM_012434.5(SLC17A5):c.1259+2T>C rs1064794334
NM_012434.5(SLC17A5):c.1259+3G>A
NM_012434.5(SLC17A5):c.1259+8C>G
NM_012434.5(SLC17A5):c.1260-15A>G
NM_012434.5(SLC17A5):c.1260-4A>G rs764321218
NM_012434.5(SLC17A5):c.1260-5T>A
NM_012434.5(SLC17A5):c.1260-6C>T rs2150075911
NM_012434.5(SLC17A5):c.1260G>C (p.Ser420=) rs760766672
NM_012434.5(SLC17A5):c.1263T>C (p.Tyr421=)
NM_012434.5(SLC17A5):c.1272C>T (p.Ile424=) rs374241516
NM_012434.5(SLC17A5):c.1275C>T (p.Leu425=)
NM_012434.5(SLC17A5):c.1278G>T (p.Leu426=) rs1167569087
NM_012434.5(SLC17A5):c.127G>A (p.Ala43Thr) rs545973
NM_012434.5(SLC17A5):c.1287A>G (p.Thr429=)
NM_012434.5(SLC17A5):c.1293A>G (p.Thr431=)
NM_012434.5(SLC17A5):c.129A>G (p.Ala43=) rs966339277
NM_012434.5(SLC17A5):c.1302T>G (p.Thr434=)
NM_012434.5(SLC17A5):c.130A>G (p.Ile44Val)
NM_012434.5(SLC17A5):c.1317T>C (p.Val439=)
NM_012434.5(SLC17A5):c.1320G>C (p.Gly440=) rs373258092
NM_012434.5(SLC17A5):c.1323C>T (p.Pro441=)
NM_012434.5(SLC17A5):c.1326C>G (p.Val442=)
NM_012434.5(SLC17A5):c.1326C>T (p.Val442=)
NM_012434.5(SLC17A5):c.1341del (p.Thr448fs)
NM_012434.5(SLC17A5):c.1344C>T (p.Thr448=)
NM_012434.5(SLC17A5):c.1349A>G (p.Asp450Gly)
NM_012434.5(SLC17A5):c.1350+13T>G
NM_012434.5(SLC17A5):c.1350+15T>C
NM_012434.5(SLC17A5):c.1350+8G>C rs918930871
NM_012434.5(SLC17A5):c.1351-10T>C
NM_012434.5(SLC17A5):c.1351-15del rs1341837566
NM_012434.5(SLC17A5):c.1351-15dup
NM_012434.5(SLC17A5):c.1351-5T>C rs2150071217
NM_012434.5(SLC17A5):c.1351-9C>A rs1201860872
NM_012434.5(SLC17A5):c.1352A>G (p.Asn451Ser)
NM_012434.5(SLC17A5):c.1355C>G (p.Thr452Ser)
NM_012434.5(SLC17A5):c.1369C>T (p.Gln457Ter)
NM_012434.5(SLC17A5):c.1374C>T (p.Thr458=)
NM_012434.5(SLC17A5):c.1375G>A (p.Val459Met)
NM_012434.5(SLC17A5):c.1377G>A (p.Val459=)
NM_012434.5(SLC17A5):c.138C>T (p.Ala46=)
NM_012434.5(SLC17A5):c.1401T>C (p.Asn467=) rs1017115082
NM_012434.5(SLC17A5):c.1407T>C (p.Phe469=)
NM_012434.5(SLC17A5):c.1419C>G (p.Phe473Leu)
NM_012434.5(SLC17A5):c.1422T>C (p.Phe474=) rs766608932
NM_012434.5(SLC17A5):c.1440T>C (p.Gly480=) rs2150071076
NM_012434.5(SLC17A5):c.144T>C (p.Phe48=)
NM_012434.5(SLC17A5):c.144dup (p.Gly49fs) rs1562000876
NM_012434.5(SLC17A5):c.1452C>T (p.Asn484=)
NM_012434.5(SLC17A5):c.1462_1464del (p.Asn488del)
NM_012434.5(SLC17A5):c.146del (p.Gly49fs) rs2150120888
NM_012434.5(SLC17A5):c.1473T>C (p.His491=)
NM_012434.5(SLC17A5):c.1479C>T (p.His493=)
NM_012434.5(SLC17A5):c.1482A>G (p.Arg494=) rs2150071024
NM_012434.5(SLC17A5):c.156T>C (p.Ile52=)
NM_012434.5(SLC17A5):c.157del (p.Val53fs) rs2150120881
NM_012434.5(SLC17A5):c.159G>A (p.Val53=)
NM_012434.5(SLC17A5):c.169C>T (p.Arg57Cys) rs754150739
NM_012434.5(SLC17A5):c.178C>T (p.Leu60=)
NM_012434.5(SLC17A5):c.180G>C (p.Leu60=)
NM_012434.5(SLC17A5):c.192A>G (p.Leu64=)
NM_012434.5(SLC17A5):c.197A>G (p.Asp66Gly)
NM_012434.5(SLC17A5):c.198T>C (p.Asp66=) rs2150120840
NM_012434.5(SLC17A5):c.1A>C (p.Met1Leu)
NM_012434.5(SLC17A5):c.1A>G (p.Met1Val) rs1304456183
NM_012434.5(SLC17A5):c.1A>T (p.Met1Leu) rs1304456183
NM_012434.5(SLC17A5):c.1del (p.Met1*)
NM_012434.5(SLC17A5):c.221T>A (p.Leu74Ter) rs1474077825
NM_012434.5(SLC17A5):c.222A>G (p.Leu74=) rs760030802
NM_012434.5(SLC17A5):c.229A>G (p.Asn77Asp)
NM_012434.5(SLC17A5):c.22C>G (p.Leu8Val)
NM_012434.5(SLC17A5):c.231T>C (p.Asn77=)
NM_012434.5(SLC17A5):c.233G>C (p.Arg78Thr)
NM_012434.5(SLC17A5):c.240C>A (p.Ser80=) rs374617105
NM_012434.5(SLC17A5):c.240C>T (p.Ser80=) rs374617105
NM_012434.5(SLC17A5):c.243G>A (p.Lys81=) rs2150120782
NM_012434.5(SLC17A5):c.24G>A (p.Leu8=)
NM_012434.5(SLC17A5):c.261T>C (p.Ser87=) rs1389502020
NM_012434.5(SLC17A5):c.262G>C (p.Ala88Pro)
NM_012434.5(SLC17A5):c.264T>C (p.Ala88=) rs777927222
NM_012434.5(SLC17A5):c.266C>A (p.Pro89His)
NM_012434.5(SLC17A5):c.267del (p.Pro89_Ile90insTer)
NM_012434.5(SLC17A5):c.275T>C (p.Val92Ala) rs2150120727
NM_012434.5(SLC17A5):c.27C>G (p.Ala9=)
NM_012434.5(SLC17A5):c.290C>T (p.Thr97Met)
NM_012434.5(SLC17A5):c.291+10A>T rs770302216
NM_012434.5(SLC17A5):c.291+13T>G
NM_012434.5(SLC17A5):c.291+14T>C
NM_012434.5(SLC17A5):c.291+16dup
NM_012434.5(SLC17A5):c.291+7G>A rs1211429440
NM_012434.5(SLC17A5):c.291+7G>T
NM_012434.5(SLC17A5):c.291+8C>G
NM_012434.5(SLC17A5):c.292-13C>G
NM_012434.5(SLC17A5):c.292-15T>C
NM_012434.5(SLC17A5):c.292-4G>C rs370580788
NM_012434.5(SLC17A5):c.294T>C (p.Gly98=) rs2150118517
NM_012434.5(SLC17A5):c.294_310del
NM_012434.5(SLC17A5):c.306A>G (p.Gln102=) rs2150118493
NM_012434.5(SLC17A5):c.310G>A (p.Asp104Asn) rs2150118480
NM_012434.5(SLC17A5):c.321T>G (p.Thr107=)
NM_012434.5(SLC17A5):c.329G>A (p.Trp110Ter)
NM_012434.5(SLC17A5):c.342C>G (p.Ser114=) rs2150118452
NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs) rs772039085
NM_012434.5(SLC17A5):c.35A>G (p.Asp12Gly)
NM_012434.5(SLC17A5):c.360C>A (p.Ile120=)
NM_012434.5(SLC17A5):c.36T>A (p.Asp12Glu)
NM_012434.5(SLC17A5):c.36T>C (p.Asp12=) rs776780567
NM_012434.5(SLC17A5):c.373C>T (p.Pro125Ser)
NM_012434.5(SLC17A5):c.388G>A (p.Ala130Thr) rs201070520
NM_012434.5(SLC17A5):c.39C>G (p.Gly13=)
NM_012434.5(SLC17A5):c.3del (p.Met1fs)
NM_012434.5(SLC17A5):c.401G>T (p.Gly134Val)
NM_012434.5(SLC17A5):c.407A>G (p.Lys136Arg)
NM_012434.5(SLC17A5):c.408A>G (p.Lys136=)
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_012434.5(SLC17A5):c.413T>C (p.Leu138Pro)
NM_012434.5(SLC17A5):c.421T>C (p.Phe141Leu)
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) rs727504157
NM_012434.5(SLC17A5):c.441T>A (p.Ala147=)
NM_012434.5(SLC17A5):c.441T>C (p.Ala147=) rs2150118328
NM_012434.5(SLC17A5):c.444C>T (p.Val148=) rs754150320
NM_012434.5(SLC17A5):c.447C>T (p.Leu149=)
NM_012434.5(SLC17A5):c.453G>A (p.Leu151=) rs138093163
NM_012434.5(SLC17A5):c.456C>T (p.Phe152=)
NM_012434.5(SLC17A5):c.45G>A (p.Glu15=)
NM_012434.5(SLC17A5):c.479del (p.Gly160fs)
NM_012434.5(SLC17A5):c.489A>G (p.Pro163=) rs1769294987
NM_012434.5(SLC17A5):c.492C>T (p.Leu164=) rs2150118298
NM_012434.5(SLC17A5):c.494T>C (p.Ile165Thr)
NM_012434.5(SLC17A5):c.4A>C (p.Arg2=)
NM_012434.5(SLC17A5):c.505G>C (p.Ala169Pro)
NM_012434.5(SLC17A5):c.507A>C (p.Ala169=) rs369334689
NM_012434.5(SLC17A5):c.507A>T (p.Ala169=)
NM_012434.5(SLC17A5):c.50C>T (p.Thr17Met) rs2150128046
NM_012434.5(SLC17A5):c.512_514del (p.Glu171del) rs2150118267
NM_012434.5(SLC17A5):c.517C>T (p.Leu173=) rs2150118262
NM_012434.5(SLC17A5):c.519A>G (p.Leu173=) rs377101723
NM_012434.5(SLC17A5):c.51G>T (p.Thr17=) rs1380441539
NM_012434.5(SLC17A5):c.525+16C>G
NM_012434.5(SLC17A5):c.525+19_525+20del
NM_012434.5(SLC17A5):c.525+20T>G
NM_012434.5(SLC17A5):c.525+3A>G
NM_012434.5(SLC17A5):c.525+9C>G rs1769291251
NM_012434.5(SLC17A5):c.525+9C>T
NM_012434.5(SLC17A5):c.526-10C>T
NM_012434.5(SLC17A5):c.526-18_526-16del
NM_012434.5(SLC17A5):c.526-19T>C
NM_012434.5(SLC17A5):c.526-8TC[2] rs1581985046
NM_012434.5(SLC17A5):c.531T>A (p.Val177=)
NM_012434.5(SLC17A5):c.532dup (p.Thr178fs)
NM_012434.5(SLC17A5):c.544A>T (p.Met182Leu) rs1454840237
NM_012434.5(SLC17A5):c.549T>C (p.His183=)
NM_012434.5(SLC17A5):c.55C>T (p.Arg19Cys)
NM_012434.5(SLC17A5):c.575del (p.Pro192fs)
NM_012434.5(SLC17A5):c.578T>C (p.Leu193Pro)
NM_012434.5(SLC17A5):c.579T>G (p.Leu193=)
NM_012434.5(SLC17A5):c.579_580insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCCCCCCCCCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGGGGCTCCCCCTCTT (p.Leu193_Glu194insPhePhePhePhePhePheXaaXaaXaaXaaProProProProProSerArgThrGlyArgLeuAlaGlyGlnArgGlySerSerLeuProSerArgGlyGlyArgAlaGluGlyAlaProProLeu) rs2150115214
NM_012434.5(SLC17A5):c.586A>G (p.Ser196Gly)
NM_012434.5(SLC17A5):c.590A>G (p.Lys197Arg)
NM_012434.5(SLC17A5):c.600C>T (p.Ser200=) rs2150115197
NM_012434.5(SLC17A5):c.606A>T (p.Ser202=)
NM_012434.5(SLC17A5):c.609T>C (p.Tyr203=)
NM_012434.5(SLC17A5):c.60G>A (p.Thr20=)
NM_012434.5(SLC17A5):c.60G>T (p.Thr20=) rs1163686601
NM_012434.5(SLC17A5):c.613+11A>G
NM_012434.5(SLC17A5):c.613+12A>G
NM_012434.5(SLC17A5):c.613+14T>C
NM_012434.5(SLC17A5):c.613+19A>T
NM_012434.5(SLC17A5):c.613+1G>A rs1769124033
NM_012434.5(SLC17A5):c.613+20A>C
NM_012434.5(SLC17A5):c.614-13T>C
NM_012434.5(SLC17A5):c.614-14dup
NM_012434.5(SLC17A5):c.614-7_614-5del
NM_012434.5(SLC17A5):c.614-8T>C
NM_012434.5(SLC17A5):c.614-9T>C rs2150113641
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter) rs1769021763
NM_012434.5(SLC17A5):c.627G>A (p.Gly209=)
NM_012434.5(SLC17A5):c.627G>T (p.Gly209=)
NM_012434.5(SLC17A5):c.63T>G (p.Pro21=) rs2150128022
NM_012434.5(SLC17A5):c.642T>C (p.Leu214=) rs2150113603
NM_012434.5(SLC17A5):c.663C>T (p.Cys221=)
NM_012434.5(SLC17A5):c.680C>A (p.Thr227Asn)
NM_012434.5(SLC17A5):c.680C>G (p.Thr227Ser) rs2150113556
NM_012434.5(SLC17A5):c.681T>C (p.Thr227=) rs2150113553
NM_012434.5(SLC17A5):c.683_698del (p.Tyr228fs)
NM_012434.5(SLC17A5):c.684T>C (p.Tyr228=) rs1554163945
NM_012434.5(SLC17A5):c.684T>G (p.Tyr228Ter)
NM_012434.5(SLC17A5):c.699del (p.Phe233fs) rs779548058
NM_012434.5(SLC17A5):c.699dup (p.Gly234fs)
NM_012434.5(SLC17A5):c.700+12A>T
NM_012434.5(SLC17A5):c.700+2T>C rs1440688652
NM_012434.5(SLC17A5):c.700+8T>A
NM_012434.5(SLC17A5):c.701-14T>C
NM_012434.5(SLC17A5):c.701-16A>G
NM_012434.5(SLC17A5):c.701-19A>G
NM_012434.5(SLC17A5):c.701-19_701-18del
NM_012434.5(SLC17A5):c.701-22_701-19del rs1561997520
NM_012434.5(SLC17A5):c.701-7T>C
NM_012434.5(SLC17A5):c.701-8A>G
NM_012434.5(SLC17A5):c.711A>G (p.Gly237=)
NM_012434.5(SLC17A5):c.727T>C (p.Leu243=) rs2150112400
NM_012434.5(SLC17A5):c.729G>A (p.Leu243=) rs1207694346
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter) rs755923873
NM_012434.5(SLC17A5):c.744_747del (p.Ser249fs) rs753141230
NM_012434.5(SLC17A5):c.757C>T (p.Gln253Ter)
NM_012434.5(SLC17A5):c.758A>G (p.Gln253Arg)
NM_012434.5(SLC17A5):c.75C>A (p.Gly25=)
NM_012434.5(SLC17A5):c.760A>G (p.Lys254Glu)
NM_012434.5(SLC17A5):c.768G>A (p.Lys256=)
NM_012434.5(SLC17A5):c.771A>G (p.Arg257=)
NM_012434.5(SLC17A5):c.776C>T (p.Ser259Phe) rs149340734
NM_012434.5(SLC17A5):c.780T>C (p.His260=)
NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp) rs1768948534
NM_012434.5(SLC17A5):c.792A>G (p.Glu264=)
NM_012434.5(SLC17A5):c.795C>T (p.Tyr265=)
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_012434.5(SLC17A5):c.804A>T (p.Ser268=) rs750559102
NM_012434.5(SLC17A5):c.813A>G (p.Arg271=)
NM_012434.5(SLC17A5):c.818A>G (p.Gln273Arg) rs761959120
NM_012434.5(SLC17A5):c.819+1G>A rs1057517028
NM_012434.5(SLC17A5):c.819+7A>C rs2150112286
NM_012434.5(SLC17A5):c.820-16T>C
NM_012434.5(SLC17A5):c.820-17A>G
NM_012434.5(SLC17A5):c.820-19T>C
NM_012434.5(SLC17A5):c.825T>C (p.Ser275=) rs2150099476
NM_012434.5(SLC17A5):c.825T>G (p.Ser275=) rs2150099476
NM_012434.5(SLC17A5):c.828A>C (p.Ser276=)
NM_012434.5(SLC17A5):c.829C>T (p.Gln277Ter) rs1768174708
NM_012434.5(SLC17A5):c.82C>A (p.Arg28=)
NM_012434.5(SLC17A5):c.837A>G (p.Ser279=) rs2150099452
NM_012434.5(SLC17A5):c.843G>T (p.Pro281=) rs567868125
NM_012434.5(SLC17A5):c.849A>T (p.Val283=) rs1561992699
NM_012434.5(SLC17A5):c.860_863dup (p.Leu289fs) rs2150099393
NM_012434.5(SLC17A5):c.864C>A (p.Ser288=) rs1392111099
NM_012434.5(SLC17A5):c.864C>G (p.Ser288=) rs1392111099
NM_012434.5(SLC17A5):c.867G>A (p.Leu289=)
NM_012434.5(SLC17A5):c.873T>A (p.Leu291=)
NM_012434.5(SLC17A5):c.873T>C (p.Leu291=) rs746795819
NM_012434.5(SLC17A5):c.880A>C (p.Ile294Leu)
NM_012434.5(SLC17A5):c.882C>T (p.Ile294=) rs1768170111
NM_012434.5(SLC17A5):c.905del (p.Asn302fs) rs771156053
NM_012434.5(SLC17A5):c.908G>A (p.Trp303Ter)
NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter) rs1057516601
NM_012434.5(SLC17A5):c.916del (p.Tyr306fs)
NM_012434.5(SLC17A5):c.923T>G (p.Leu308Ter) rs766036082
NM_012434.5(SLC17A5):c.924A>G (p.Leu308=) rs2150099285
NM_012434.5(SLC17A5):c.927G>A (p.Leu309=)
NM_012434.5(SLC17A5):c.933A>G (p.Leu311=)
NM_012434.5(SLC17A5):c.94+12G>A
NM_012434.5(SLC17A5):c.94+12G>T
NM_012434.5(SLC17A5):c.94+13G>A
NM_012434.5(SLC17A5):c.94+13del
NM_012434.5(SLC17A5):c.94+15C>A
NM_012434.5(SLC17A5):c.94+18C>T
NM_012434.5(SLC17A5):c.94+1G>A
NM_012434.5(SLC17A5):c.94+2T>A rs1769984400
NM_012434.5(SLC17A5):c.94+7G>A rs1221669032
NM_012434.5(SLC17A5):c.94+7G>C
NM_012434.5(SLC17A5):c.94+8G>A
NM_012434.5(SLC17A5):c.94+9C>A
NM_012434.5(SLC17A5):c.945T>C (p.Tyr315=) rs2150099250
NM_012434.5(SLC17A5):c.95-13A>T
NM_012434.5(SLC17A5):c.95-19T>C
NM_012434.5(SLC17A5):c.95-19del
NM_012434.5(SLC17A5):c.95-20T>G
NM_012434.5(SLC17A5):c.95-37_95-20del rs771211311
NM_012434.5(SLC17A5):c.954G>A (p.Glu318=)
NM_012434.5(SLC17A5):c.964_976del (p.Phe322fs) rs2150099225
NM_012434.5(SLC17A5):c.96T>A (p.Ala32=)
NM_012434.5(SLC17A5):c.972T>C (p.Val324=)
NM_012434.5(SLC17A5):c.976G>T (p.Glu326Ter) rs745386414
NM_012434.5(SLC17A5):c.978+11dup rs2150099214
NM_012434.5(SLC17A5):c.978+13_978+15del
NM_012434.5(SLC17A5):c.978+16C>T
NM_012434.5(SLC17A5):c.978+17_978+19del
NM_012434.5(SLC17A5):c.978+18T>A
NM_012434.5(SLC17A5):c.978+1G>A rs2150099218
NM_012434.5(SLC17A5):c.979-10T>C
NM_012434.5(SLC17A5):c.979-11A>G
NM_012434.5(SLC17A5):c.979-12T>C
NM_012434.5(SLC17A5):c.979-2A>G rs1554162230
NM_012434.5(SLC17A5):c.979-7C>T rs1247597551
NM_012434.5(SLC17A5):c.994del (p.Ser332fs)
NM_012434.5(SLC17A5):c.998del (p.Leu333fs) rs779494716
NM_012434.5(SLC17A5):c.999G>A (p.Leu333=) rs1561989819
NM_012434.5(SLC17A5):c.9T>A (p.Ser3=)
NM_012434.5(SLC17A5):c.9T>C (p.Ser3=)

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