ClinVar Miner

List of variants in gene TCTN1 studied for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 327
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HGVS dbSNP gnomAD frequency
NM_001082538.3(TCTN1):c.473-10T>A rs12307716 0.02637
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=) rs16940927 0.01924
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349 0.01517
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509 0.00723
NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr) rs190390987 0.00245
NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg) rs114568905 0.00194
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe) rs201894544 0.00146
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=) rs370336923 0.00108
NM_001082538.3(TCTN1):c.341+11G>A rs188296885 0.00079
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met) rs145478892 0.00073
NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu) rs188817098 0.00071
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500 0.00066
NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile) rs118057448 0.00051
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) rs145970332 0.00051
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=) rs368907353 0.00048
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455 0.00046
NM_001082538.3(TCTN1):c.1038C>T (p.Phe346=) rs377300877 0.00031
NM_001082538.3(TCTN1):c.1635+11C>T rs369922174 0.00027
NM_001082538.3(TCTN1):c.1658C>T (p.Thr553Met) rs182406601 0.00026
NM_001082538.3(TCTN1):c.1304A>G (p.Tyr435Cys) rs201007321 0.00024
NM_001082538.3(TCTN1):c.570A>G (p.Glu190=) rs199584658 0.00024
NM_001082538.3(TCTN1):c.713-9G>T rs201293727 0.00024
NM_001082538.3(TCTN1):c.1383G>A (p.Leu461=) rs377488330 0.00023
NM_001082538.3(TCTN1):c.890C>T (p.Thr297Met) rs200460700 0.00021
NM_001082538.3(TCTN1):c.1676C>T (p.Ala559Val) rs373723058 0.00019
NM_001082538.3(TCTN1):c.1359C>T (p.Leu453=) rs200935044 0.00016
NM_001082538.3(TCTN1):c.1060G>A (p.Val354Ile) rs374701683 0.00014
NM_001082538.3(TCTN1):c.14G>A (p.Gly5Asp) rs572300029 0.00014
NM_001082538.3(TCTN1):c.1671C>A (p.Ser557=) rs200067409 0.00014
NM_001082538.3(TCTN1):c.1531G>A (p.Ala511Thr) rs369125553 0.00013
NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=) rs371066430 0.00013
NM_001082538.3(TCTN1):c.823-6A>G rs377230085 0.00012
NM_001082538.3(TCTN1):c.1015G>C (p.Val339Leu) rs201990420 0.00011
NM_001082538.3(TCTN1):c.1622C>T (p.Ser541Phe) rs752953090 0.00011
NM_001082538.3(TCTN1):c.264C>T (p.Asp88=) rs373685803 0.00010
NM_001082538.3(TCTN1):c.1636-18T>G rs574360617 0.00007
NM_001082538.3(TCTN1):c.607A>G (p.Thr203Ala) rs1483033032 0.00007
NM_001082538.3(TCTN1):c.162C>T (p.Pro54=) rs751912758 0.00006
NM_001082538.3(TCTN1):c.341+1G>A rs200241085 0.00006
NM_001082538.3(TCTN1):c.672G>A (p.Ser224=) rs763386832 0.00006
NM_001082538.3(TCTN1):c.880C>T (p.Leu294=) rs371899538 0.00006
NM_001082538.3(TCTN1):c.8C>T (p.Pro3Leu) rs772390489 0.00006
NM_001082538.3(TCTN1):c.901C>T (p.Arg301Trp) rs755328291 0.00006
NM_001082538.3(TCTN1):c.939C>T (p.Asn313=) rs375034561 0.00006
NM_001082538.3(TCTN1):c.1739A>G (p.Asn580Ser) rs757300709 0.00005
NM_001082538.3(TCTN1):c.211G>A (p.Val71Ile) rs776696098 0.00005
NM_001082538.3(TCTN1):c.285C>T (p.Pro95=) rs199664343 0.00005
NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr) rs199529768 0.00005
NM_001082538.3(TCTN1):c.1095T>C (p.His365=) rs767963074 0.00004
NM_001082538.3(TCTN1):c.1540A>G (p.Ile514Val) rs371539069 0.00004
NM_001082538.3(TCTN1):c.473-20_473-19del rs762957362 0.00004
NM_001082538.3(TCTN1):c.644C>A (p.Thr215Asn) rs545613207 0.00004
NM_001082538.3(TCTN1):c.712+1G>A rs200863258 0.00004
NM_001082538.3(TCTN1):c.822+18G>C rs367638462 0.00004
NM_001082538.3(TCTN1):c.864C>T (p.Ser288=) rs759380913 0.00004
NM_001082538.3(TCTN1):c.927G>A (p.Pro309=) rs777373658 0.00004
NM_001082538.3(TCTN1):c.1059C>T (p.Ser353=) rs370906446 0.00003
NM_001082538.3(TCTN1):c.1282C>T (p.Arg428Trp) rs572643772 0.00003
NM_001082538.3(TCTN1):c.1350G>A (p.Pro450=) rs781366326 0.00003
NM_001082538.3(TCTN1):c.1421T>C (p.Phe474Ser) rs368668920 0.00003
NM_001082538.3(TCTN1):c.1463T>C (p.Ile488Thr) rs1291891063 0.00003
NM_001082538.3(TCTN1):c.1494+20G>A rs1024500142 0.00003
NM_001082538.3(TCTN1):c.21G>T (p.Pro7=) rs760813360 0.00003
NM_001082538.3(TCTN1):c.438T>G (p.Ile146Met) rs370390020 0.00003
NM_001082538.3(TCTN1):c.527A>G (p.Asp176Gly) rs771704189 0.00003
NM_001082538.3(TCTN1):c.559T>C (p.Leu187=) rs376935369 0.00003
NM_001082538.3(TCTN1):c.612T>A (p.Ala204=) rs983405128 0.00003
NM_001082538.3(TCTN1):c.810G>A (p.Pro270=) rs771664440 0.00003
NM_001082538.3(TCTN1):c.817C>T (p.Leu273=) rs775207770 0.00003
NM_001082538.3(TCTN1):c.1149C>T (p.Val383=) rs759588884 0.00002
NM_001082538.3(TCTN1):c.1167T>A (p.Ala389=) rs754192411 0.00002
NM_001082538.3(TCTN1):c.1271T>C (p.Leu424Pro) rs751036661 0.00002
NM_001082538.3(TCTN1):c.1740T>C (p.Asn580=) rs376626018 0.00002
NM_001082538.3(TCTN1):c.237C>G (p.Val79=) rs374598052 0.00002
NM_001082538.3(TCTN1):c.574T>A (p.Tyr192Asn) rs370252911 0.00002
NM_001082538.3(TCTN1):c.597G>T (p.Leu199=) rs950880140 0.00002
NM_001082538.3(TCTN1):c.621T>C (p.Tyr207=) rs757534239 0.00002
NM_001082538.3(TCTN1):c.823-3T>A rs757410579 0.00002
NM_001082538.3(TCTN1):c.865A>G (p.Ile289Val) rs1035223063 0.00002
NM_001082538.3(TCTN1):c.954C>T (p.Ser318=) rs372535670 0.00002
NM_001082538.3(TCTN1):c.1034C>T (p.Ser345Leu) rs764428510 0.00001
NM_001082538.3(TCTN1):c.1104+1G>C rs756402483 0.00001
NM_001082538.3(TCTN1):c.113C>G (p.Thr38Ser) rs1414721255 0.00001
NM_001082538.3(TCTN1):c.1150G>A (p.Val384Met) rs768050958 0.00001
NM_001082538.3(TCTN1):c.1209C>T (p.Thr403=) rs1195048348 0.00001
NM_001082538.3(TCTN1):c.1217G>C (p.Arg406Thr) rs372139162 0.00001
NM_001082538.3(TCTN1):c.1287C>T (p.Thr429=) rs746097128 0.00001
NM_001082538.3(TCTN1):c.1309A>G (p.Met437Val) rs777277575 0.00001
NM_001082538.3(TCTN1):c.1332-17C>A rs763909645 0.00001
NM_001082538.3(TCTN1):c.1349C>T (p.Pro450Leu) rs755076199 0.00001
NM_001082538.3(TCTN1):c.1441G>A (p.Asp481Asn) rs891438919 0.00001
NM_001082538.3(TCTN1):c.1452C>T (p.Asp484=) rs2067208566 0.00001
NM_001082538.3(TCTN1):c.1467C>T (p.His489=) rs748187759 0.00001
NM_001082538.3(TCTN1):c.1522C>T (p.Leu508Phe) rs1016934113 0.00001
NM_001082538.3(TCTN1):c.1562A>T (p.Tyr521Phe) rs978264567 0.00001
NM_001082538.3(TCTN1):c.1627T>A (p.Phe543Ile) rs928189605 0.00001
NM_001082538.3(TCTN1):c.1636-3C>T rs1456445051 0.00001
NM_001082538.3(TCTN1):c.1636-5T>C rs1250840241 0.00001
NM_001082538.3(TCTN1):c.1646G>A (p.Gly549Glu) rs780673992 0.00001
NM_001082538.3(TCTN1):c.1656G>A (p.Arg552=) rs1248295755 0.00001
NM_001082538.3(TCTN1):c.1659G>A (p.Thr553=) rs777278093 0.00001
NM_001082538.3(TCTN1):c.1663C>T (p.Leu555Phe) rs375896348 0.00001
NM_001082538.3(TCTN1):c.1679T>C (p.Val560Ala) rs765240282 0.00001
NM_001082538.3(TCTN1):c.169C>T (p.Pro57Ser) rs543518078 0.00001
NM_001082538.3(TCTN1):c.1749G>T (p.Leu583=) rs1228988444 0.00001
NM_001082538.3(TCTN1):c.1773T>G (p.Phe591Leu) rs201198236 0.00001
NM_001082538.3(TCTN1):c.219C>G (p.Asp73Glu) rs748298895 0.00001
NM_001082538.3(TCTN1):c.232T>C (p.Cys78Arg) rs1565956183 0.00001
NM_001082538.3(TCTN1):c.233G>A (p.Cys78Tyr) rs760047850 0.00001
NM_001082538.3(TCTN1):c.286G>A (p.Asp96Asn) rs1048212721 0.00001
NM_001082538.3(TCTN1):c.297C>T (p.Ser99=) rs199654159 0.00001
NM_001082538.3(TCTN1):c.341C>T (p.Thr114Met) rs768244592 0.00001
NM_001082538.3(TCTN1):c.346G>A (p.Asp116Asn) rs983420048 0.00001
NM_001082538.3(TCTN1):c.467C>T (p.Thr156Ile) rs369542737 0.00001
NM_001082538.3(TCTN1):c.473-9A>T rs766470328 0.00001
NM_001082538.3(TCTN1):c.54C>T (p.Ala18=) rs758668268 0.00001
NM_001082538.3(TCTN1):c.57C>T (p.Ser19=) rs779892252 0.00001
NM_001082538.3(TCTN1):c.654G>A (p.Ser218=) rs776715588 0.00001
NM_001082538.3(TCTN1):c.666T>G (p.Phe222Leu) rs2066301569 0.00001
NM_001082538.3(TCTN1):c.671C>T (p.Ser224Leu) rs376544711 0.00001
NM_001082538.3(TCTN1):c.705C>T (p.Asn235=) rs752181429 0.00001
NM_001082538.3(TCTN1):c.713-2A>G rs2066444872 0.00001
NM_001082538.3(TCTN1):c.713C>T (p.Ala238Val) rs370816745 0.00001
NM_001082538.3(TCTN1):c.714G>A (p.Ala238=) rs200574241 0.00001
NM_001082538.3(TCTN1):c.736A>T (p.Lys246Ter) rs748215804 0.00001
NM_001082538.3(TCTN1):c.823-4C>G rs754017886 0.00001
NM_001082538.3(TCTN1):c.83C>T (p.Pro28Leu) rs1305265141 0.00001
NM_001082538.3(TCTN1):c.846C>G (p.Val282=) rs368536784 0.00001
NM_001082538.3(TCTN1):c.858T>G (p.Val286=) rs770733945 0.00001
NM_001082538.3(TCTN1):c.898C>T (p.Arg300Ter) rs751962801 0.00001
NM_001082538.3(TCTN1):c.899G>A (p.Arg300Gln) rs746946452 0.00001
NM_001082538.3(TCTN1):c.902G>A (p.Arg301Gln) rs780877516 0.00001
NM_001082538.3(TCTN1):c.926C>T (p.Pro309Leu) rs1291603381 0.00001
NM_001082538.3(TCTN1):c.933C>T (p.Leu311=) rs748696458 0.00001
NM_001082538.3(TCTN1):c.956T>G (p.Leu319Arg) rs762127242 0.00001
NM_001082538.3(TCTN1):c.978+10G>A rs557580380 0.00001
NC_000012.11:g.(?_111057621)_(111057781_?)del
NC_000012.11:g.(?_111064147)_(111064317_?)del
NC_000012.11:g.(?_111064147)_(111074326_?)del
NC_000012.11:g.(?_111079754)_(111082915_?)del
NC_000012.12:g.(?_110626342)_(110642409_?)del
NM_001082538.3(TCTN1):c.1004_1013delinsCCTCACATACACAGCCTCACATACACAG (p.Asp335_Glu338delinsAlaSerHisThrGlnProHisIleHisArg)
NM_001082538.3(TCTN1):c.1009G>C (p.Gly337Arg) rs2136130583
NM_001082538.3(TCTN1):c.1030C>A (p.Leu344Ile) rs1056341678
NM_001082538.3(TCTN1):c.1033T>A (p.Ser345Thr) rs2066918404
NM_001082538.3(TCTN1):c.1039G>A (p.Val347Ile) rs199967338
NM_001082538.3(TCTN1):c.1045G>A (p.Gly349Arg)
NM_001082538.3(TCTN1):c.1050A>G (p.Thr350=)
NM_001082538.3(TCTN1):c.1079A>G (p.Gln360Arg) rs774343613
NM_001082538.3(TCTN1):c.1083G>C (p.Lys361Asn)
NM_001082538.3(TCTN1):c.1086T>G (p.Phe362Leu) rs2066921812
NM_001082538.3(TCTN1):c.1104+14A>G
NM_001082538.3(TCTN1):c.1104+2T>C
NM_001082538.3(TCTN1):c.1105-14G>C
NM_001082538.3(TCTN1):c.1109A>G (p.Asn370Ser)
NM_001082538.3(TCTN1):c.1119A>T (p.Pro373=) rs2136135794
NM_001082538.3(TCTN1):c.1125T>C (p.Pro375=)
NM_001082538.3(TCTN1):c.114C>A (p.Thr38=)
NM_001082538.3(TCTN1):c.1176C>T (p.Phe392=)
NM_001082538.3(TCTN1):c.1191-17C>G
NM_001082538.3(TCTN1):c.1209C>A (p.Thr403=)
NM_001082538.3(TCTN1):c.1219T>C (p.Tyr407His)
NM_001082538.3(TCTN1):c.121G>T (p.Ala41Ser)
NM_001082538.3(TCTN1):c.1222G>A (p.Gly408Arg)
NM_001082538.3(TCTN1):c.1233T>A (p.Thr411=)
NM_001082538.3(TCTN1):c.1235T>C (p.Ile412Thr) rs2136144284
NM_001082538.3(TCTN1):c.125T>C (p.Leu42Pro) rs1415245710
NM_001082538.3(TCTN1):c.1279G>A (p.Val427Ile) rs560599144
NM_001082538.3(TCTN1):c.1283G>A (p.Arg428Gln)
NM_001082538.3(TCTN1):c.1327C>T (p.Leu443=)
NM_001082538.3(TCTN1):c.1331+15T>C
NM_001082538.3(TCTN1):c.1332-17_1332-15del rs1346752512
NM_001082538.3(TCTN1):c.1332-1G>C
NM_001082538.3(TCTN1):c.1337C>G (p.Thr446Ser)
NM_001082538.3(TCTN1):c.1351T>G (p.Cys451Gly)
NM_001082538.3(TCTN1):c.1360G>T (p.Val454Leu) rs369759157
NM_001082538.3(TCTN1):c.1361T>C (p.Val454Ala)
NM_001082538.3(TCTN1):c.1380C>G (p.Ser460Arg) rs2136171528
NM_001082538.3(TCTN1):c.1386G>A (p.Leu462=)
NM_001082538.3(TCTN1):c.1386G>T (p.Leu462=)
NM_001082538.3(TCTN1):c.1415C>A (p.Ala472Asp)
NM_001082538.3(TCTN1):c.1417C>T (p.Pro473Ser) rs757074241
NM_001082538.3(TCTN1):c.1418del (p.Pro473fs) rs757348545
NM_001082538.3(TCTN1):c.1425A>C (p.Gly475=)
NM_001082538.3(TCTN1):c.1434G>A (p.Gln478=) rs2136172368
NM_001082538.3(TCTN1):c.1465del (p.His489fs) rs2136172776
NM_001082538.3(TCTN1):c.146C>G (p.Pro49Arg) rs571241015
NM_001082538.3(TCTN1):c.146C>T (p.Pro49Leu)
NM_001082538.3(TCTN1):c.1479G>A (p.Gln493=)
NM_001082538.3(TCTN1):c.1494+10A>G
NM_001082538.3(TCTN1):c.1494+1G>A rs1165243207
NM_001082538.3(TCTN1):c.1494+21del
NM_001082538.3(TCTN1):c.1494+9G>A
NM_001082538.3(TCTN1):c.1495-15C>G
NM_001082538.3(TCTN1):c.1495-2A>G
NM_001082538.3(TCTN1):c.1503T>G (p.Val501=) rs2067384815
NM_001082538.3(TCTN1):c.1505dup (p.Leu502fs)
NM_001082538.3(TCTN1):c.1517G>A (p.Cys506Tyr) rs2136195685
NM_001082538.3(TCTN1):c.151A>G (p.Thr51Ala)
NM_001082538.3(TCTN1):c.1524C>T (p.Leu508=)
NM_001082538.3(TCTN1):c.1527del (p.Ala511fs) rs2136195903
NM_001082538.3(TCTN1):c.156G>T (p.Arg52Ser)
NM_001082538.3(TCTN1):c.156del (p.Arg52fs) rs766816100
NM_001082538.3(TCTN1):c.1595T>A (p.Val532Asp)
NM_001082538.3(TCTN1):c.1599T>C (p.Asn533=) rs2136196716
NM_001082538.3(TCTN1):c.159C>T (p.Pro53=)
NM_001082538.3(TCTN1):c.1600G>A (p.Val534Ile)
NM_001082538.3(TCTN1):c.1623C>T (p.Ser541=) rs2067393633
NM_001082538.3(TCTN1):c.1626C>T (p.Ser542=) rs2136196962
NM_001082538.3(TCTN1):c.1636-13C>G rs2136202456
NM_001082538.3(TCTN1):c.1636-16T>G
NM_001082538.3(TCTN1):c.1636-18TC[2] rs201913681
NM_001082538.3(TCTN1):c.1636-20C>G
NM_001082538.3(TCTN1):c.1639A>G (p.Asn547Asp)
NM_001082538.3(TCTN1):c.163_164delinsAA (p.Gly55Lys)
NM_001082538.3(TCTN1):c.1641C>G (p.Asn547Lys)
NM_001082538.3(TCTN1):c.1666_1668dup (p.Ile556dup) rs773918437
NM_001082538.3(TCTN1):c.1671C>T (p.Ser557=) rs200067409
NM_001082538.3(TCTN1):c.1676C>A (p.Ala559Glu) rs373723058
NM_001082538.3(TCTN1):c.1677G>A (p.Ala559=)
NM_001082538.3(TCTN1):c.167C>T (p.Thr56Ile) rs2135829550
NM_001082538.3(TCTN1):c.1685T>C (p.Phe562Ser) rs1277761197
NM_001082538.3(TCTN1):c.1687G>T (p.Val563Leu) rs1593399731
NM_001082538.3(TCTN1):c.1691A>C (p.Asp564Ala)
NM_001082538.3(TCTN1):c.1705G>A (p.Ala569Thr)
NM_001082538.3(TCTN1):c.1722A>C (p.Arg574Ser) rs560372787
NM_001082538.3(TCTN1):c.1731A>G (p.Pro577=)
NM_001082538.3(TCTN1):c.1749G>A (p.Leu583=)
NM_001082538.3(TCTN1):c.1758C>T (p.Asn586=)
NM_001082538.3(TCTN1):c.1759TTC[2] (p.Phe589del)
NM_001082538.3(TCTN1):c.1759TTC[4] (p.Phe589dup) rs1482826487
NM_001082538.3(TCTN1):c.1759_1760inv (p.Phe587Asn)
NM_001082538.3(TCTN1):c.1769C>T (p.Pro590Leu)
NM_001082538.3(TCTN1):c.1775_1778del (p.Val592fs) rs1353535488
NM_001082538.3(TCTN1):c.186C>G (p.Pro62=)
NM_001082538.3(TCTN1):c.18C>G (p.Leu6=)
NM_001082538.3(TCTN1):c.198C>T (p.Pro66=) rs745624307
NM_001082538.3(TCTN1):c.19C>T (p.Pro7Ser) rs2135826823
NM_001082538.3(TCTN1):c.202C>G (p.Pro68Ala)
NM_001082538.3(TCTN1):c.205A>G (p.Thr69Ala)
NM_001082538.3(TCTN1):c.209_210del (p.Pro70fs)
NM_001082538.3(TCTN1):c.210dup (p.Val71fs)
NM_001082538.3(TCTN1):c.216G>C (p.Thr72=)
NM_001082538.3(TCTN1):c.221-12T>C rs2065291069
NM_001082538.3(TCTN1):c.221-7dup rs768471137
NM_001082538.3(TCTN1):c.221-8_221-7del
NM_001082538.3(TCTN1):c.233G>C (p.Cys78Ser) rs760047850
NM_001082538.3(TCTN1):c.235G>T (p.Val79Phe)
NM_001082538.3(TCTN1):c.249C>T (p.Ser83=) rs2135904897
NM_001082538.3(TCTN1):c.24G>A (p.Pro8=) rs2135826966
NM_001082538.3(TCTN1):c.251C>T (p.Pro84Leu)
NM_001082538.3(TCTN1):c.256_257del (p.Gln86fs)
NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn)
NM_001082538.3(TCTN1):c.284C>T (p.Pro95Leu)
NM_001082538.3(TCTN1):c.305T>G (p.Phe102Cys) rs1593225303
NM_001082538.3(TCTN1):c.316T>C (p.Ser106Pro)
NM_001082538.3(TCTN1):c.332C>T (p.Pro111Leu)
NM_001082538.3(TCTN1):c.334G>C (p.Val112Leu) rs1461650187
NM_001082538.3(TCTN1):c.341+10C>T rs201488724
NM_001082538.3(TCTN1):c.341+20A>G
NM_001082538.3(TCTN1):c.341+20A>T
NM_001082538.3(TCTN1):c.342-10T>A
NM_001082538.3(TCTN1):c.342-17del
NM_001082538.3(TCTN1):c.342-19T>C
NM_001082538.3(TCTN1):c.347A>G (p.Asp116Gly)
NM_001082538.3(TCTN1):c.363T>C (p.Ser121=)
NM_001082538.3(TCTN1):c.37C>T (p.Leu13Phe) rs762387258
NM_001082538.3(TCTN1):c.395C>T (p.Thr132Ile)
NM_001082538.3(TCTN1):c.396A>C (p.Thr132=)
NM_001082538.3(TCTN1):c.39C>G (p.Leu13=)
NM_001082538.3(TCTN1):c.401A>G (p.Asn134Ser)
NM_001082538.3(TCTN1):c.402C>T (p.Asn134=)
NM_001082538.3(TCTN1):c.411_412del (p.Arg138fs) rs1398514249
NM_001082538.3(TCTN1):c.425TTG[1] (p.Val143del)
NM_001082538.3(TCTN1):c.436dup (p.Ile146fs) rs2065847886
NM_001082538.3(TCTN1):c.469A>G (p.Asn157Asp) rs1338880412
NM_001082538.3(TCTN1):c.472+14A>G
NM_001082538.3(TCTN1):c.472+14_472+15del
NM_001082538.3(TCTN1):c.472+15T>C
NM_001082538.3(TCTN1):c.472+18A>G
NM_001082538.3(TCTN1):c.472+1G>C
NM_001082538.3(TCTN1):c.473-10del rs771463400
NM_001082538.3(TCTN1):c.473-10dup rs771463400
NM_001082538.3(TCTN1):c.473-4dup
NM_001082538.3(TCTN1):c.496A>C (p.Asn166His)
NM_001082538.3(TCTN1):c.499C>A (p.Pro167Thr) rs2136005301
NM_001082538.3(TCTN1):c.512A>G (p.Asp171Gly)
NM_001082538.3(TCTN1):c.532T>C (p.Leu178=)
NM_001082538.3(TCTN1):c.560T>C (p.Leu187Ser) rs2066031755
NM_001082538.3(TCTN1):c.585C>T (p.Phe195=) rs774402021
NM_001082538.3(TCTN1):c.586A>G (p.Thr196Ala)
NM_001082538.3(TCTN1):c.604C>T (p.Pro202Ser)
NM_001082538.3(TCTN1):c.614C>G (p.Ala205Gly)
NM_001082538.3(TCTN1):c.624+12C>A
NM_001082538.3(TCTN1):c.625-16G>A rs1193239700
NM_001082538.3(TCTN1):c.625-16G>C
NM_001082538.3(TCTN1):c.630G>A (p.Gly210=)
NM_001082538.3(TCTN1):c.638T>A (p.Leu213Gln) rs2066300090
NM_001082538.3(TCTN1):c.667C>T (p.Pro223Ser) rs770297289
NM_001082538.3(TCTN1):c.669T>C (p.Pro223=)
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del) rs797046038
NM_001082538.3(TCTN1):c.712+19T>G rs1407011800
NM_001082538.3(TCTN1):c.712+8del
NM_001082538.3(TCTN1):c.720G>A (p.Leu240=) rs2066445334
NM_001082538.3(TCTN1):c.767G>T (p.Cys256Phe)
NM_001082538.3(TCTN1):c.782C>G (p.Ala261Gly) rs2136070459
NM_001082538.3(TCTN1):c.802A>G (p.Ser268Gly) rs771495390
NM_001082538.3(TCTN1):c.809C>A (p.Pro270Gln)
NM_001082538.3(TCTN1):c.822+1G>A
NM_001082538.3(TCTN1):c.823-13T>C
NM_001082538.3(TCTN1):c.823-17G>C
NM_001082538.3(TCTN1):c.843+1G>C rs2066579666
NM_001082538.3(TCTN1):c.843+4A>G
NM_001082538.3(TCTN1):c.843+8TATT[2] rs775925984
NM_001082538.3(TCTN1):c.844-10C>T rs1565998186
NM_001082538.3(TCTN1):c.844G>A (p.Val282Ile)
NM_001082538.3(TCTN1):c.84G>A (p.Pro28=) rs777519512
NM_001082538.3(TCTN1):c.84G>C (p.Pro28=)
NM_001082538.3(TCTN1):c.899G>C (p.Arg300Pro)
NM_001082538.3(TCTN1):c.902_929dup (p.Thr310_Leu311insGlyGlyHisTer) rs2066879614
NM_001082538.3(TCTN1):c.915T>C (p.Asp305=)
NM_001082538.3(TCTN1):c.933C>A (p.Leu311=)
NM_001082538.3(TCTN1):c.942T>C (p.Ala314=)
NM_001082538.3(TCTN1):c.962del (p.Val321fs)
NM_001082538.3(TCTN1):c.978+9C>T rs1193894596
NM_001082538.3(TCTN1):c.979-8G>A rs1182390950
NM_001082538.3(TCTN1):c.993C>G (p.Leu331=)

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