ClinVar Miner

List of variants in gene CDT1 studied for not provided

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 367
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HGVS dbSNP gnomAD frequency
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg) rs507329 0.99945
NM_030928.4(CDT1):c.915T>C (p.His305=) rs510862 0.83978
NC_000016.10:g.88803691T>C rs865103 0.49715
NM_030928.4(CDT1):c.784A>G (p.Thr262Ala) rs480727 0.49695
NM_030928.4(CDT1):c.1587C>G (p.Leu529=) rs572275 0.47081
NM_030928.4(CDT1):c.*92C>T rs15829 0.41579
NC_000016.10:g.88803626C>G rs4356464 0.18261
NM_030928.4(CDT1):c.933+13C>T rs3218722 0.14625
NM_030928.4(CDT1):c.549A>G (p.Gly183=) rs1834065 0.13858
NM_030928.4(CDT1):c.243T>C (p.Ser81=) rs475667 0.11192
NM_030928.4(CDT1):c.*201G>A rs1799825 0.05723
NC_000016.10:g.88803534C>A rs139880672 0.04217
NM_030928.4(CDT1):c.1500G>T (p.Leu500=) rs3218720 0.03976
NM_030928.4(CDT1):c.1276-22C>T rs3218724 0.03838
NM_030928.4(CDT1):c.1123-45C>A rs74035836 0.03617
NM_030928.4(CDT1):c.488+65G>A rs74035831 0.03530
NC_000016.10:g.88803697C>A rs550569413 0.02856
NM_030928.4(CDT1):c.1478-136T>A rs59945100 0.02031
NM_030928.4(CDT1):c.1610C>T (p.Ala537Val) rs3218721 0.02004
NM_030928.4(CDT1):c.*245C>T rs111978266 0.02003
NM_030928.4(CDT1):c.*302G>A rs116408076 0.01930
NM_030928.4(CDT1):c.933+102G>A rs74035835 0.01825
NM_030928.4(CDT1):c.1122+159C>T rs11640595 0.01817
NM_030928.4(CDT1):c.1179G>C (p.Gly393=) rs74035837 0.01762
NM_030928.4(CDT1):c.1477+52G>A rs115396767 0.01710
NM_030928.4(CDT1):c.*6G>C rs3218723 0.01684
NM_030928.4(CDT1):c.1477+191G>A rs149467820 0.01335
NC_000016.10:g.88803601G>A rs367877068 0.01162
NM_030928.4(CDT1):c.1521G>A (p.Pro507=) rs139633564 0.00773
NM_030928.4(CDT1):c.1477+242G>A rs71395326 0.00737
NM_030928.4(CDT1):c.185C>T (p.Ala62Val) rs561655241 0.00729
NM_030928.4(CDT1):c.435G>A (p.Gln145=) rs3218731 0.00626
NM_030928.4(CDT1):c.1367A>C (p.Glu456Ala) rs3218729 0.00611
NM_030928.4(CDT1):c.1472G>A (p.Ser491Asn) rs146199695 0.00536
NM_030928.4(CDT1):c.292A>G (p.Ile98Val) rs142692932 0.00432
NM_030928.4(CDT1):c.404C>T (p.Ala135Val) rs3218725 0.00419
NM_030928.4(CDT1):c.465C>T (p.Ala155=) rs202089169 0.00397
NM_030928.4(CDT1):c.1221G>A (p.Pro407=) rs74035838 0.00376
NM_030928.4(CDT1):c.613G>A (p.Gly205Ser) rs145552478 0.00292
NM_030928.4(CDT1):c.229-13T>A rs139066583 0.00283
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala) rs141663679 0.00207
NM_030928.4(CDT1):c.1631A>T (p.Glu544Val) rs144843732 0.00188
NM_030928.4(CDT1):c.15C>A (p.Arg5=) rs372245967 0.00178
NM_030928.4(CDT1):c.1546C>T (p.Arg516Cys) rs144721725 0.00157
NM_030928.4(CDT1):c.900G>C (p.Gln300His) rs143149360 0.00151
NM_030928.4(CDT1):c.1581G>A (p.Ala527=) rs77893539 0.00147
NM_030928.4(CDT1):c.1507T>G (p.Ser503Ala) rs147828044 0.00140
NM_030928.4(CDT1):c.1123-4G>A rs373938189 0.00137
NM_030928.4(CDT1):c.514C>T (p.Arg172Cys) rs3218727 0.00125
NM_030928.4(CDT1):c.*9G>A rs371269045 0.00097
NM_030928.4(CDT1):c.252G>A (p.Glu84=) rs140663920 0.00093
NM_030928.4(CDT1):c.758G>A (p.Arg253His) rs148337159 0.00086
NM_030928.4(CDT1):c.1629G>A (p.Glu543=) rs141644149 0.00066
NM_030928.4(CDT1):c.687-16C>T rs201758940 0.00051
NM_030928.4(CDT1):c.1176C>T (p.Pro392=) rs143599393 0.00044
NM_030928.4(CDT1):c.1604G>A (p.Arg535His) rs75595603 0.00042
NM_030928.4(CDT1):c.883C>T (p.Arg295Trp) rs139127078 0.00034
NM_030928.4(CDT1):c.1291G>A (p.Ala431Thr) rs146214741 0.00031
NM_030928.4(CDT1):c.1325C>T (p.Pro442Leu) rs200199040 0.00029
NM_030928.4(CDT1):c.229-7C>G rs371658696 0.00028
NM_030928.4(CDT1):c.855G>A (p.Gln285=) rs142859474 0.00028
NM_030928.4(CDT1):c.592C>T (p.Arg198Cys) rs140700251 0.00026
NM_030928.4(CDT1):c.471C>G (p.Gly157=) rs556299727 0.00025
NM_030928.4(CDT1):c.1123-10C>T rs199729089 0.00024
NM_030928.4(CDT1):c.1143A>G (p.Gln381=) rs147067524 0.00024
NM_030928.4(CDT1):c.639G>A (p.Thr213=) rs376711413 0.00018
NM_030928.4(CDT1):c.412C>T (p.Arg138Trp) rs149361322 0.00016
NM_030928.4(CDT1):c.757C>T (p.Arg253Cys) rs143284523 0.00016
NM_030928.4(CDT1):c.1401C>T (p.Ser467=) rs151292317 0.00014
NM_030928.4(CDT1):c.228+10G>A rs747999090 0.00014
NM_030928.4(CDT1):c.768C>T (p.Pro256=) rs201965856 0.00014
NM_030928.4(CDT1):c.1348C>T (p.Arg450Cys) rs139052420 0.00012
NM_030928.4(CDT1):c.833-9G>A rs370961222 0.00012
NM_030928.4(CDT1):c.933+3G>A rs146476365 0.00012
NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp) rs200672589 0.00011
NM_030928.4(CDT1):c.473G>A (p.Arg158His) rs367849928 0.00011
NM_030928.4(CDT1):c.748C>T (p.Arg250Cys) rs199723040 0.00011
NM_030928.4(CDT1):c.537C>T (p.Pro179=) rs147395321 0.00010
NM_030928.4(CDT1):c.686+10C>T rs201106735 0.00010
NM_030928.4(CDT1):c.999G>A (p.Pro333=) rs202026460 0.00010
NM_030928.4(CDT1):c.1122+10C>T rs372920765 0.00009
NM_030928.4(CDT1):c.1207C>T (p.Pro403Ser) rs199674701 0.00009
NM_030928.4(CDT1):c.1561G>A (p.Val521Ile) rs769331060 0.00009
NM_030928.4(CDT1):c.1609G>A (p.Ala537Thr) rs373683170 0.00009
NM_030928.4(CDT1):c.1578C>T (p.Ala526=) rs141757329 0.00008
NM_030928.4(CDT1):c.1601C>T (p.Ala534Val) rs186133926 0.00008
NM_030928.4(CDT1):c.634G>A (p.Glu212Lys) rs769385427 0.00008
NM_030928.4(CDT1):c.1199C>T (p.Pro400Leu) rs367845242 0.00007
NM_030928.4(CDT1):c.1541G>A (p.Arg514His) rs754064981 0.00007
NM_030928.4(CDT1):c.172G>C (p.Gly58Arg) rs767926757 0.00007
NM_030928.4(CDT1):c.249C>T (p.Pro83=) rs766615832 0.00007
NM_030928.4(CDT1):c.686+9C>T rs189449467 0.00007
NM_030928.4(CDT1):c.922G>A (p.Glu308Lys) rs764489464 0.00007
NM_030928.4(CDT1):c.1279C>T (p.Arg427Ter) rs749671711 0.00006
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917 0.00006
NM_030928.4(CDT1):c.1402G>A (p.Glu468Lys) rs200652608 0.00006
NM_030928.4(CDT1):c.1551C>T (p.Thr517=) rs777708264 0.00006
NM_030928.4(CDT1):c.351+8G>T rs748907268 0.00006
NM_030928.4(CDT1):c.422A>G (p.Lys141Arg) rs559019677 0.00006
NM_030928.4(CDT1):c.731C>T (p.Pro244Leu) rs145319641 0.00006
NM_030928.4(CDT1):c.1107C>T (p.Asn369=) rs775639705 0.00005
NM_030928.4(CDT1):c.1122+11G>A rs549074503 0.00005
NM_030928.4(CDT1):c.1318C>T (p.Arg440Trp) rs553021912 0.00005
NM_030928.4(CDT1):c.1524C>A (p.Asp508Glu) rs762191927 0.00005
NM_030928.4(CDT1):c.409G>C (p.Val137Leu) rs534520741 0.00005
NM_030928.4(CDT1):c.609C>T (p.Ile203=) rs767922745 0.00005
NM_030928.4(CDT1):c.866C>T (p.Ser289Leu) rs775967677 0.00005
NM_030928.4(CDT1):c.1023C>T (p.Pro341=) rs200497384 0.00004
NM_030928.4(CDT1):c.1024G>A (p.Asp342Asn) rs372182503 0.00004
NM_030928.4(CDT1):c.1200G>A (p.Pro400=) rs200169074 0.00004
NM_030928.4(CDT1):c.1275+8G>A rs546977389 0.00004
NM_030928.4(CDT1):c.1301A>C (p.Gln434Pro) rs555260168 0.00004
NM_030928.4(CDT1):c.1552G>A (p.Asp518Asn) rs751315293 0.00004
NM_030928.4(CDT1):c.488+17C>T rs769491654 0.00004
NM_030928.4(CDT1):c.538G>A (p.Gly180Ser) rs778663120 0.00004
NM_030928.4(CDT1):c.732G>A (p.Pro244=) rs372803781 0.00004
NM_030928.4(CDT1):c.868C>T (p.Arg290Cys) rs200820843 0.00004
NM_030928.4(CDT1):c.933+20G>A rs746525783 0.00004
NM_030928.4(CDT1):c.1144T>C (p.Leu382=) rs138244244 0.00003
NM_030928.4(CDT1):c.1177G>A (p.Gly393Arg) rs531159541 0.00003
NM_030928.4(CDT1):c.1273C>T (p.Arg425Trp) rs368049819 0.00003
NM_030928.4(CDT1):c.1317G>A (p.Thr439=) rs534371300 0.00003
NM_030928.4(CDT1):c.1477+13C>T rs760255561 0.00003
NM_030928.4(CDT1):c.1477+5G>A rs377758402 0.00003
NM_030928.4(CDT1):c.1543A>G (p.Ile515Val) rs755157588 0.00003
NM_030928.4(CDT1):c.1547G>A (p.Arg516His) rs138633544 0.00003
NM_030928.4(CDT1):c.278C>T (p.Ser93Phe) rs751451179 0.00003
NM_030928.4(CDT1):c.352-14del rs776151753 0.00003
NM_030928.4(CDT1):c.432C>G (p.Ala144=) rs759429997 0.00003
NM_030928.4(CDT1):c.552C>T (p.Leu184=) rs763313140 0.00003
NM_030928.4(CDT1):c.582G>A (p.Ala194=) rs150960744 0.00003
NM_030928.4(CDT1):c.621C>T (p.Leu207=) rs777377390 0.00003
NM_030928.4(CDT1):c.640C>T (p.Pro214Ser) rs370127987 0.00003
NM_030928.4(CDT1):c.687-18G>A rs377591661 0.00003
NM_030928.4(CDT1):c.709G>A (p.Gly237Ser) rs919041444 0.00003
NM_030928.4(CDT1):c.723C>T (p.Thr241=) rs760450551 0.00003
NM_030928.4(CDT1):c.805C>T (p.Leu269Phe) rs147045046 0.00003
NM_030928.4(CDT1):c.814G>A (p.Glu272Lys) rs377367421 0.00003
NM_030928.4(CDT1):c.840C>T (p.Asp280=) rs374475660 0.00003
NM_030928.4(CDT1):c.861G>A (p.Thr287=) rs1385781702 0.00003
NM_030928.4(CDT1):c.878A>G (p.Gln293Arg) rs537487304 0.00003
NM_030928.4(CDT1):c.926A>G (p.His309Arg) rs774767743 0.00003
NM_030928.4(CDT1):c.933+6C>T rs913913329 0.00003
NM_030928.4(CDT1):c.998C>T (p.Pro333Leu) rs150252167 0.00003
NM_030928.4(CDT1):c.1002C>T (p.Arg334=) rs201613709 0.00002
NM_030928.4(CDT1):c.1034C>T (p.Pro345Leu) rs141611072 0.00002
NM_030928.4(CDT1):c.1108C>G (p.Leu370Val) rs370716489 0.00002
NM_030928.4(CDT1):c.11G>T (p.Arg4Leu) rs781585324 0.00002
NM_030928.4(CDT1):c.1206C>T (p.Thr402=) rs764245837 0.00002
NM_030928.4(CDT1):c.1276-13G>C rs752344763 0.00002
NM_030928.4(CDT1):c.1276-15C>T rs754735807 0.00002
NM_030928.4(CDT1):c.1349G>A (p.Arg450His) rs772355366 0.00002
NM_030928.4(CDT1):c.1384C>T (p.Arg462Trp) rs755500544 0.00002
NM_030928.4(CDT1):c.1389C>T (p.Ser463=) rs142465113 0.00002
NM_030928.4(CDT1):c.1491G>C (p.Lys497Asn) rs1208488728 0.00002
NM_030928.4(CDT1):c.1509C>T (p.Ser503=) rs373408082 0.00002
NM_030928.4(CDT1):c.162C>T (p.Pro54=) rs1035830181 0.00002
NM_030928.4(CDT1):c.391C>T (p.Arg131Trp) rs377742778 0.00002
NM_030928.4(CDT1):c.515G>A (p.Arg172His) rs763410679 0.00002
NM_030928.4(CDT1):c.686+11G>A rs374891839 0.00002
NM_030928.4(CDT1):c.738C>T (p.Ser246=) rs200892812 0.00002
NM_030928.4(CDT1):c.880C>T (p.Arg294Ter) rs755972697 0.00002
NM_030928.4(CDT1):c.976G>T (p.Asp326Tyr) rs752643196 0.00002
NM_030928.4(CDT1):c.1008C>T (p.Asn336=) rs778195622 0.00001
NM_030928.4(CDT1):c.1010T>C (p.Val337Ala) rs1156943864 0.00001
NM_030928.4(CDT1):c.1035G>A (p.Pro345=) rs369682126 0.00001
NM_030928.4(CDT1):c.1083G>A (p.Gln361=) rs778048346 0.00001
NM_030928.4(CDT1):c.1097G>A (p.Arg366Gln) rs372945501 0.00001
NM_030928.4(CDT1):c.1105A>G (p.Asn369Asp) rs1908868704 0.00001
NM_030928.4(CDT1):c.1123-11C>T rs750804588 0.00001
NM_030928.4(CDT1):c.1123-5C>T rs753959823 0.00001
NM_030928.4(CDT1):c.1201G>A (p.Ala401Thr) rs139927650 0.00001
NM_030928.4(CDT1):c.1223C>T (p.Pro408Leu) rs777128844 0.00001
NM_030928.4(CDT1):c.1240G>T (p.Ala414Ser) rs763233317 0.00001
NM_030928.4(CDT1):c.1267C>T (p.Leu423=) rs1172918049 0.00001
NM_030928.4(CDT1):c.1272G>A (p.Glu424=) rs376775084 0.00001
NM_030928.4(CDT1):c.1275+11C>T rs2508212993 0.00001
NM_030928.4(CDT1):c.1296G>A (p.Gln432=) rs1374918693 0.00001
NM_030928.4(CDT1):c.1319G>A (p.Arg440Gln) rs758063867 0.00001
NM_030928.4(CDT1):c.1339C>T (p.Arg447Trp) rs755342796 0.00001
NM_030928.4(CDT1):c.1378G>A (p.Val460Met) rs528610361 0.00001
NM_030928.4(CDT1):c.1387A>G (p.Ser463Gly) rs748552177 0.00001
NM_030928.4(CDT1):c.1436G>T (p.Cys479Phe) rs758810157 0.00001
NM_030928.4(CDT1):c.1477+18T>C rs374693189 0.00001
NM_030928.4(CDT1):c.1478-1G>A rs1255717208 0.00001
NM_030928.4(CDT1):c.1478-5C>T rs1300311066 0.00001
NM_030928.4(CDT1):c.1478-9C>T rs750727539 0.00001
NM_030928.4(CDT1):c.1549A>G (p.Thr517Ala) rs1219971869 0.00001
NM_030928.4(CDT1):c.1588G>A (p.Ala530Thr) rs373841167 0.00001
NM_030928.4(CDT1):c.158C>T (p.Pro53Leu) rs1184453539 0.00001
NM_030928.4(CDT1):c.1599T>G (p.Thr533=) rs748784219 0.00001
NM_030928.4(CDT1):c.1626T>C (p.Ala542=) rs1422132953 0.00001
NM_030928.4(CDT1):c.1632G>C (p.Glu544Asp) rs556429460 0.00001
NM_030928.4(CDT1):c.228+20T>A rs1172509765 0.00001
NM_030928.4(CDT1):c.288G>A (p.Gln96=) rs199951660 0.00001
NM_030928.4(CDT1):c.32C>T (p.Ala11Val) rs1295956463 0.00001
NM_030928.4(CDT1):c.345G>T (p.Gln115His) rs750150918 0.00001
NM_030928.4(CDT1):c.392G>A (p.Arg131Gln) rs756607694 0.00001
NM_030928.4(CDT1):c.430G>T (p.Ala144Ser) rs1429736027 0.00001
NM_030928.4(CDT1):c.469G>A (p.Gly157Ser) rs748806867 0.00001
NM_030928.4(CDT1):c.489-15C>T rs745864933 0.00001
NM_030928.4(CDT1):c.492C>T (p.Gly164=) rs749125732 0.00001
NM_030928.4(CDT1):c.501G>A (p.Ala167=) rs773995919 0.00001
NM_030928.4(CDT1):c.542T>C (p.Leu181Pro) rs148460469 0.00001
NM_030928.4(CDT1):c.546G>A (p.Pro182=) rs770311076 0.00001
NM_030928.4(CDT1):c.565A>G (p.Lys189Glu) rs2508202393 0.00001
NM_030928.4(CDT1):c.581C>T (p.Ala194Val) rs544489602 0.00001
NM_030928.4(CDT1):c.593G>A (p.Arg198His) rs775994089 0.00001
NM_030928.4(CDT1):c.683G>A (p.Arg228His) rs750025399 0.00001
NM_030928.4(CDT1):c.686+5G>C rs755695035 0.00001
NM_030928.4(CDT1):c.687-19C>T rs750158020 0.00001
NM_030928.4(CDT1):c.687-20C>T rs934297539 0.00001
NM_030928.4(CDT1):c.717C>T (p.Ile239=) rs767281419 0.00001
NM_030928.4(CDT1):c.729C>T (p.Tyr243=) rs541697158 0.00001
NM_030928.4(CDT1):c.742C>T (p.Arg248Cys) rs149192605 0.00001
NM_030928.4(CDT1):c.749G>A (p.Arg250His) rs774484812 0.00001
NM_030928.4(CDT1):c.828G>A (p.Glu276=) rs963613048 0.00001
NM_030928.4(CDT1):c.832+15C>T rs779226839 0.00001
NM_030928.4(CDT1):c.833-17C>T rs368423198 0.00001
NM_030928.4(CDT1):c.833-19G>C rs757367489 0.00001
NM_030928.4(CDT1):c.841G>A (p.Gly281Arg) rs368718178 0.00001
NM_030928.4(CDT1):c.860C>T (p.Thr287Met) rs765701438 0.00001
NM_030928.4(CDT1):c.888G>A (p.Gln296=) rs148645974 0.00001
NM_030928.4(CDT1):c.898C>T (p.Gln300Ter) rs1403548687 0.00001
NM_030928.4(CDT1):c.933+11C>T rs1468070449 0.00001
NM_030928.4(CDT1):c.*43C>G rs3743548
NM_030928.4(CDT1):c.1026C>T (p.Asp342=)
NM_030928.4(CDT1):c.1030G>A (p.Glu344Lys) rs587780303
NM_030928.4(CDT1):c.1038C>T (p.Ala346=)
NM_030928.4(CDT1):c.1096C>T (p.Arg366Trp) rs781400118
NM_030928.4(CDT1):c.10C>T (p.Arg4Cys) rs757462069
NM_030928.4(CDT1):c.1123-13G>A
NM_030928.4(CDT1):c.1123-21_1123-20delinsGT rs2142945443
NM_030928.4(CDT1):c.1150C>T (p.Leu384=) rs2142945520
NM_030928.4(CDT1):c.1161_1170dup (p.Ser391fs)
NM_030928.4(CDT1):c.1163C>A (p.Ala388Glu) rs773673217
NM_030928.4(CDT1):c.1177G>T (p.Gly393Trp) rs531159541
NM_030928.4(CDT1):c.1178G>A (p.Gly393Glu) rs746870943
NM_030928.4(CDT1):c.1179G>A (p.Gly393=)
NM_030928.4(CDT1):c.1191A>G (p.Pro397=)
NM_030928.4(CDT1):c.1207CCA[1] (p.Pro404del) rs1423986989
NM_030928.4(CDT1):c.1220C>T (p.Pro407Leu) rs773731569
NM_030928.4(CDT1):c.1229C>T (p.Ala410Val) rs2142945691
NM_030928.4(CDT1):c.1234C>A (p.Pro412Thr) rs770232566
NM_030928.4(CDT1):c.1243C>T (p.Leu415=) rs2508212694
NM_030928.4(CDT1):c.1257C>G (p.Ser419=) rs1908890842
NM_030928.4(CDT1):c.1275+19T>C rs1274552652
NM_030928.4(CDT1):c.1275+7C>T rs370087075
NM_030928.4(CDT1):c.1276-20G>C rs1048189754
NM_030928.4(CDT1):c.1283C>T (p.Ala428Val) rs1359772760
NM_030928.4(CDT1):c.1333G>A (p.Glu445Lys)
NM_030928.4(CDT1):c.1337_1338delinsGCTTAGAA (p.Gln446delinsArgLeuGlu)
NM_030928.4(CDT1):c.1338del (p.Gln446fs) rs2508213890
NM_030928.4(CDT1):c.1366G>C (p.Glu456Gln) rs776599320
NM_030928.4(CDT1):c.1377C>T (p.Arg459=) rs3218730
NM_030928.4(CDT1):c.1405dup (p.Arg469fs)
NM_030928.4(CDT1):c.1419C>G (p.Leu473=) rs1356261497
NM_030928.4(CDT1):c.1437T>C (p.Cys479=)
NM_030928.4(CDT1):c.1448T>C (p.Val483Ala) rs1597506511
NM_030928.4(CDT1):c.1477+12G>A
NM_030928.4(CDT1):c.1477+13_1477+34dup rs769923406
NM_030928.4(CDT1):c.1478-14C>T
NM_030928.4(CDT1):c.1478-14_1478-12del
NM_030928.4(CDT1):c.1510G>C (p.Glu504Gln) rs548414653
NM_030928.4(CDT1):c.1515G>A (p.Leu505=) rs2142947430
NM_030928.4(CDT1):c.1521G>C (p.Pro507=) rs139633564
NM_030928.4(CDT1):c.1521G>T (p.Pro507=) rs139633564
NM_030928.4(CDT1):c.1559A>G (p.Tyr520Cys) rs2142947516
NM_030928.4(CDT1):c.1560C>A (p.Tyr520Ter) rs147914553
NM_030928.4(CDT1):c.1560C>T (p.Tyr520=) rs147914553
NM_030928.4(CDT1):c.1561G>C (p.Val521Leu) rs769331060
NM_030928.4(CDT1):c.1566G>A (p.Lys522=) rs748777018
NM_030928.4(CDT1):c.156C>T (p.Arg52=) rs977437671
NM_030928.4(CDT1):c.1587C>T (p.Leu529=) rs572275
NM_030928.4(CDT1):c.1599T>C (p.Thr533=) rs748784219
NM_030928.4(CDT1):c.160C>T (p.Pro54Ser) rs2508193297
NM_030928.4(CDT1):c.1622G>T (p.Arg541Leu) rs558748090
NM_030928.4(CDT1):c.16del (p.Val6fs) rs2508191996
NM_030928.4(CDT1):c.184G>A (p.Ala62Thr) rs1908750451
NM_030928.4(CDT1):c.212G>T (p.Arg71Leu) rs753921598
NM_030928.4(CDT1):c.218C>G (p.Ser73Trp) rs1908751845
NM_030928.4(CDT1):c.228+17G>T rs2142941080
NM_030928.4(CDT1):c.228+27_228+55del rs941213119
NM_030928.4(CDT1):c.228+4_228+5dup rs757565391
NM_030928.4(CDT1):c.229-15G>C
NM_030928.4(CDT1):c.229-17G>C
NM_030928.4(CDT1):c.229-18T>C
NM_030928.4(CDT1):c.229-18T>G
NM_030928.4(CDT1):c.229-20C>T rs766599974
NM_030928.4(CDT1):c.229-3C>T rs1307426950
NM_030928.4(CDT1):c.242G>A (p.Ser81Asn) rs762472427
NM_030928.4(CDT1):c.246C>A (p.Thr82=) rs1427557953
NM_030928.4(CDT1):c.248C>T (p.Pro83Leu) rs139038990
NM_030928.4(CDT1):c.277T>C (p.Ser93Pro) rs1337000526
NM_030928.4(CDT1):c.291G>C (p.Lys97Asn) rs779651660
NM_030928.4(CDT1):c.293T>C (p.Ile98Thr) rs2508196559
NM_030928.4(CDT1):c.297G>A (p.Lys99=)
NM_030928.4(CDT1):c.304A>C (p.Thr102Pro) rs1597504243
NM_030928.4(CDT1):c.317G>T (p.Gly106Val) rs141874338
NM_030928.4(CDT1):c.351+8del rs2508196917
NM_030928.4(CDT1):c.352-12A>T
NM_030928.4(CDT1):c.352-13G>T rs761817764
NM_030928.4(CDT1):c.352-6del rs760767136
NM_030928.4(CDT1):c.357C>T (p.Thr119=) rs1908784450
NM_030928.4(CDT1):c.364G>A (p.Glu122Lys) rs1197526229
NM_030928.4(CDT1):c.372G>A (p.Ala124=) rs1166539816
NM_030928.4(CDT1):c.430G>A (p.Ala144Thr) rs1429736027
NM_030928.4(CDT1):c.441T>C (p.Ala147=) rs1597504494
NM_030928.4(CDT1):c.468G>A (p.Glu156=) rs994463513
NM_030928.4(CDT1):c.472C>T (p.Arg158Cys) rs2142942349
NM_030928.4(CDT1):c.488+16del rs749568501
NM_030928.4(CDT1):c.499G>A (p.Ala167Thr) rs1908812514
NM_030928.4(CDT1):c.4G>A (p.Glu2Lys) rs990267710
NM_030928.4(CDT1):c.553G>C (p.Val185Leu) rs577211739
NM_030928.4(CDT1):c.631T>C (p.Ser211Pro) rs746736930
NM_030928.4(CDT1):c.633C>T (p.Ser211=)
NM_030928.4(CDT1):c.638C>T (p.Thr213Met) rs146872515
NM_030928.4(CDT1):c.645C>A (p.Thr215=)
NM_030928.4(CDT1):c.650C>T (p.Ala217Val) rs752647897
NM_030928.4(CDT1):c.651C>G (p.Ala217=)
NM_030928.4(CDT1):c.651C>T (p.Ala217=) rs1597505001
NM_030928.4(CDT1):c.683G>T (p.Arg228Leu) rs750025399
NM_030928.4(CDT1):c.686+13G>A rs2508203451
NM_030928.4(CDT1):c.686+15G>A rs368138332
NM_030928.4(CDT1):c.686+15del
NM_030928.4(CDT1):c.686+5G>A rs755695035
NM_030928.4(CDT1):c.687-10C>G rs200506462
NM_030928.4(CDT1):c.687-10C>T rs200506462
NM_030928.4(CDT1):c.687-6C>G
NM_030928.4(CDT1):c.689G>A (p.Arg230His) rs1597505116
NM_030928.4(CDT1):c.700_701delinsCC (p.Cys234Pro) rs2508204248
NM_030928.4(CDT1):c.704A>G (p.Asn235Ser) rs761792897
NM_030928.4(CDT1):c.704A>T (p.Asn235Ile) rs761792897
NM_030928.4(CDT1):c.756G>C (p.Glu252Asp) rs760579130
NM_030928.4(CDT1):c.759C>T (p.Arg253=) rs764724746
NM_030928.4(CDT1):c.777G>A (p.Lys259=)
NM_030928.4(CDT1):c.783_784inv (p.Thr262Ala)
NM_030928.4(CDT1):c.795A>G (p.Ser265=) rs1482527466
NM_030928.4(CDT1):c.813C>T (p.Ile271=) rs774961045
NM_030928.4(CDT1):c.832+12G>T rs2508205806
NM_030928.4(CDT1):c.832+14G>T rs1908836886
NM_030928.4(CDT1):c.832+1G>A rs587780305
NM_030928.4(CDT1):c.832+2T>G rs2508205765
NM_030928.4(CDT1):c.832+3G>A
NM_030928.4(CDT1):c.832+7G>C rs2508205783
NM_030928.4(CDT1):c.833-12C>T
NM_030928.4(CDT1):c.833-19G>A
NM_030928.4(CDT1):c.833-20G>A rs370517080
NM_030928.4(CDT1):c.833-20G>C
NM_030928.4(CDT1):c.847G>A (p.Ala283Thr) rs1567501791
NM_030928.4(CDT1):c.850C>G (p.Pro284Ala) rs777208715
NM_030928.4(CDT1):c.852C>T (p.Pro284=) rs1161190564
NM_030928.4(CDT1):c.853C>T (p.Gln285Ter)
NM_030928.4(CDT1):c.867G>A (p.Ser289=) rs1039025354
NM_030928.4(CDT1):c.876G>A (p.Leu292=) rs2142944200
NM_030928.4(CDT1):c.884G>C (p.Arg295Pro) rs149521649
NM_030928.4(CDT1):c.884_885delinsTT (p.Arg295Leu) rs1908845159
NM_030928.4(CDT1):c.8A>T (p.Gln3Leu) rs2508191908
NM_030928.4(CDT1):c.909G>A (p.Val303=)
NM_030928.4(CDT1):c.915_916inv (p.Val306Ile)
NM_030928.4(CDT1):c.933+14G>A
NM_030928.4(CDT1):c.934-11C>T rs1245201423
NM_030928.4(CDT1):c.934-58T>C rs3218726
NM_030928.4(CDT1):c.934-6C>T rs2508209189
NM_030928.4(CDT1):c.948C>T (p.Ser316=)
NM_030928.4(CDT1):c.972G>A (p.Pro324=)
NM_030928.4(CDT1):c.975G>A (p.Glu325=) rs1332312997

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