ClinVar Miner

List of variants in gene CLTC studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 806
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004859.4(CLTC):c.2293-26T>C rs8065248 0.88365
NM_004859.4(CLTC):c.519+16T>G rs8071749 0.85772
NM_004859.4(CLTC):c.3873+4T>C rs7213568 0.04933
NM_004859.4(CLTC):c.3261G>A (p.Glu1087=) rs77062632 0.01794
NM_004859.4(CLTC):c.1368+3A>T rs80264443 0.01699
NM_004859.4(CLTC):c.2797-9C>T rs148657971 0.00940
NM_004859.4(CLTC):c.2775A>G (p.Gln925=) rs74649914 0.00287
NM_004859.4(CLTC):c.3078C>T (p.Asn1026=) rs141118201 0.00233
NM_004859.4(CLTC):c.3442+6A>G rs200720789 0.00176
NM_004859.4(CLTC):c.87C>T (p.Thr29=) rs139085965 0.00108
NM_004859.4(CLTC):c.1522-8G>C rs377049407 0.00091
NM_004859.4(CLTC):c.795+18A>C rs200081644 0.00056
NM_004859.4(CLTC):c.609G>A (p.Gln203=) rs149074963 0.00039
NM_004859.4(CLTC):c.1522-16C>T rs373972687 0.00038
NM_004859.4(CLTC):c.43-17C>A rs200579713 0.00036
NM_004859.4(CLTC):c.1029A>G (p.Gln343=) rs146333268 0.00035
NM_004859.4(CLTC):c.1413C>T (p.Asp471=) rs373501671 0.00035
NM_004859.4(CLTC):c.2129-9T>C rs367690971 0.00035
NM_004859.4(CLTC):c.18A>C (p.Pro6=) rs76471984 0.00034
NM_004859.4(CLTC):c.3874-6G>A rs145756010 0.00034
NM_004859.4(CLTC):c.1168-17A>G rs1342800771 0.00030
NM_004859.4(CLTC):c.3601-9T>G rs768618316 0.00030
NM_004859.4(CLTC):c.2865G>A (p.Leu955=) rs368514379 0.00024
NM_004859.4(CLTC):c.3333T>A (p.Leu1111=) rs145280858 0.00023
NM_004859.4(CLTC):c.2796T>C (p.Asn932=) rs148395519 0.00018
NM_004859.4(CLTC):c.2562-5C>T rs200170084 0.00017
NM_004859.4(CLTC):c.2797-13A>G rs182520100 0.00017
NM_004859.4(CLTC):c.681+18T>A rs757310201 0.00016
NM_004859.4(CLTC):c.1716T>C (p.Asn572=) rs181696643 0.00014
NM_004859.4(CLTC):c.2562-20T>C rs373974068 0.00014
NM_004859.4(CLTC):c.3902C>T (p.Thr1301Ile) rs373338446 0.00014
NM_004859.4(CLTC):c.877A>G (p.Ile293Val) rs141466492 0.00014
NM_004859.4(CLTC):c.4774A>G (p.Met1592Val) rs143886947 0.00013
NM_004859.4(CLTC):c.42+13C>A rs369041540 0.00012
NM_004859.4(CLTC):c.1368+5G>A rs775354587 0.00011
NM_004859.4(CLTC):c.4944C>T (p.Ala1648=) rs148633723 0.00011
NM_004859.4(CLTC):c.1539T>C (p.Asp513=) rs150415923 0.00010
NM_004859.4(CLTC):c.2628C>T (p.His876=) rs200957969 0.00009
NM_004859.4(CLTC):c.3873+8C>T rs759691989 0.00009
NM_004859.4(CLTC):c.4722C>T (p.Tyr1574=) rs367867382 0.00009
NM_004859.4(CLTC):c.4904-8T>G rs367691240 0.00009
NM_004859.4(CLTC):c.4980C>T (p.Thr1660=) rs199812583 0.00009
NM_004859.4(CLTC):c.4716C>T (p.Thr1572=) rs149456767 0.00008
NM_004859.4(CLTC):c.1457A>G (p.Asn486Ser) rs1038055440 0.00006
NM_004859.4(CLTC):c.3442G>A (p.Gly1148Arg) rs374051627 0.00006
NM_004859.4(CLTC):c.3732T>C (p.Ala1244=) rs753214660 0.00006
NM_004859.4(CLTC):c.4435-20G>A rs117912693 0.00006
NM_004859.4(CLTC):c.520-8C>G rs373954320 0.00006
NM_004859.4(CLTC):c.210C>T (p.Ser70=) rs367936999 0.00005
NM_004859.4(CLTC):c.3066-8T>G rs202002188 0.00005
NM_004859.4(CLTC):c.1045C>T (p.Leu349=) rs751065290 0.00004
NM_004859.4(CLTC):c.1047G>C (p.Leu349=) rs201085353 0.00004
NM_004859.4(CLTC):c.1168-13C>T rs375974038 0.00004
NM_004859.4(CLTC):c.156C>T (p.Ile52=) rs370751913 0.00004
NM_004859.4(CLTC):c.1947+19T>A rs772030389 0.00004
NM_004859.4(CLTC):c.2768G>A (p.Arg923His) rs374166486 0.00004
NM_004859.4(CLTC):c.2841G>A (p.Leu947=) rs1046812472 0.00004
NM_004859.4(CLTC):c.3096A>C (p.Ala1032=) rs150533662 0.00004
NM_004859.4(CLTC):c.3572A>G (p.Asn1191Ser) rs774053560 0.00004
NM_004859.4(CLTC):c.3651G>A (p.Leu1217=) rs751625980 0.00004
NM_004859.4(CLTC):c.4769A>G (p.Asn1590Ser) rs186222560 0.00004
NM_004859.4(CLTC):c.765A>G (p.Glu255=) rs762037766 0.00004
NM_004859.4(CLTC):c.1692A>C (p.Ala564=) rs138226151 0.00003
NM_004859.4(CLTC):c.2070T>C (p.His690=) rs775987197 0.00003
NM_004859.4(CLTC):c.2419-14C>G rs759138441 0.00003
NM_004859.4(CLTC):c.2874C>T (p.Ser958=) rs773163874 0.00003
NM_004859.4(CLTC):c.3250-19T>A rs1044515117 0.00003
NM_004859.4(CLTC):c.3601-16A>C rs771718485 0.00003
NM_004859.4(CLTC):c.3762A>G (p.Lys1254=) rs111452880 0.00003
NM_004859.4(CLTC):c.121A>C (p.Arg41=) rs547846963 0.00002
NM_004859.4(CLTC):c.1450G>A (p.Val484Ile) rs748661028 0.00002
NM_004859.4(CLTC):c.1721G>A (p.Arg574His) rs146137742 0.00002
NM_004859.4(CLTC):c.1913G>A (p.Arg638His) rs778341773 0.00002
NM_004859.4(CLTC):c.1971C>G (p.Ser657=) rs374852546 0.00002
NM_004859.4(CLTC):c.1020T>C (p.Asn340=) rs757978607 0.00001
NM_004859.4(CLTC):c.1085A>G (p.Glu362Gly) rs1280430512 0.00001
NM_004859.4(CLTC):c.1133C>T (p.Ser378Leu) rs771278812 0.00001
NM_004859.4(CLTC):c.1195C>T (p.Arg399Cys) rs954500638 0.00001
NM_004859.4(CLTC):c.1521+10A>G rs184639073 0.00001
NM_004859.4(CLTC):c.1644+16T>C rs200598329 0.00001
NM_004859.4(CLTC):c.1704T>C (p.Asp568=) rs762946933 0.00001
NM_004859.4(CLTC):c.1783-16G>A rs750980855 0.00001
NM_004859.4(CLTC):c.1848G>A (p.Leu616=) rs374524113 0.00001
NM_004859.4(CLTC):c.2077C>T (p.Leu693=) rs559222283 0.00001
NM_004859.4(CLTC):c.2133C>T (p.Leu711=) rs763813149 0.00001
NM_004859.4(CLTC):c.2262C>T (p.Tyr754=) rs1381487424 0.00001
NM_004859.4(CLTC):c.2266C>T (p.Pro756Ser) rs749424905 0.00001
NM_004859.4(CLTC):c.2292G>A (p.Lys764=) rs1451901038 0.00001
NM_004859.4(CLTC):c.2340A>G (p.Arg780=) rs1484843880 0.00001
NM_004859.4(CLTC):c.2391A>G (p.Gln797=) rs777641449 0.00001
NM_004859.4(CLTC):c.2503G>A (p.Val835Ile) rs373696281 0.00001
NM_004859.4(CLTC):c.251-19T>A rs764799785 0.00001
NM_004859.4(CLTC):c.2655C>T (p.Asp885=) rs1223886535 0.00001
NM_004859.4(CLTC):c.2670G>A (p.Pro890=) rs761755703 0.00001
NM_004859.4(CLTC):c.2707C>T (p.Arg903Cys) rs142283994 0.00001
NM_004859.4(CLTC):c.2763T>C (p.Tyr921=) rs753155715 0.00001
NM_004859.4(CLTC):c.2796+8C>T rs1222396607 0.00001
NM_004859.4(CLTC):c.3065+5G>A rs763406694 0.00001
NM_004859.4(CLTC):c.3170A>G (p.Asn1057Ser) rs372461487 0.00001
NM_004859.4(CLTC):c.3204A>G (p.Ala1068=) rs139541374 0.00001
NM_004859.4(CLTC):c.3250-3T>C rs2033083719 0.00001
NM_004859.4(CLTC):c.3354A>G (p.Lys1118=) rs370695546 0.00001
NM_004859.4(CLTC):c.3417A>G (p.Glu1139=) rs148917750 0.00001
NM_004859.4(CLTC):c.3525C>T (p.Phe1175=) rs781608351 0.00001
NM_004859.4(CLTC):c.3555G>C (p.Glu1185Asp) rs2033098216 0.00001
NM_004859.4(CLTC):c.3568A>G (p.Ile1190Val) rs1199094987 0.00001
NM_004859.4(CLTC):c.3631T>C (p.Tyr1211His) rs763150110 0.00001
NM_004859.4(CLTC):c.368C>T (p.Thr123Met) rs1347364344 0.00001
NM_004859.4(CLTC):c.3709T>C (p.Tyr1237His) rs1381380592 0.00001
NM_004859.4(CLTC):c.4617G>A (p.Gln1539=) rs909366178 0.00001
NM_004859.4(CLTC):c.4662G>A (p.Leu1554=) rs766444476 0.00001
NM_004859.4(CLTC):c.4672T>C (p.Leu1558=) rs767282650 0.00001
NM_004859.4(CLTC):c.4744G>A (p.Val1582Ile) rs780462309 0.00001
NM_004859.4(CLTC):c.4827+1_4827+13dup rs754168336 0.00001
NM_004859.4(CLTC):c.4833T>C (p.Asp1611=) rs1427778398 0.00001
NM_004859.4(CLTC):c.4903+15T>C rs777575724 0.00001
NM_004859.4(CLTC):c.4904-19T>C rs1032066837 0.00001
NM_004859.4(CLTC):c.4904-4G>A rs755404780 0.00001
NM_004859.4(CLTC):c.4945G>A (p.Val1649Ile) rs1337950048 0.00001
NM_004859.4(CLTC):c.4951C>A (p.Pro1651Thr) rs771441431 0.00001
NM_004859.4(CLTC):c.4978A>G (p.Thr1660Ala) rs1411381430 0.00001
NM_004859.4(CLTC):c.4989G>A (p.Pro1663=) rs144269102 0.00001
NM_004859.4(CLTC):c.520-4A>G rs775937387 0.00001
NM_004859.4(CLTC):c.561T>C (p.Asp187=) rs1009799813 0.00001
NM_004859.4(CLTC):c.654T>C (p.Phe218=) rs767316484 0.00001
NM_004859.4(CLTC):c.796-15A>G rs775432963 0.00001
NM_004859.4(CLTC):c.796-19G>A rs772035490 0.00001
NM_004859.4(CLTC):c.834G>A (p.Lys278=) rs752135383 0.00001
GRCh37/hg19 17q23.1(chr17:57718125-57762980)x1
NC_000017.10:g.(?_57697493)_(57742290_?)dup
NC_000017.10:g.(?_57697493)_(57761366_?)dup
NC_000017.10:g.(?_57697493)_(57771213_?)dup
NC_000017.10:g.(?_57721617)_(57771213_?)del
NC_000017.10:g.(?_57733195)_(57771213_?)dup
NC_000017.10:g.(?_57737732)_(57739024_?)del
NC_000017.10:g.(?_57737732)_(57742290_?)del
NC_000017.10:g.(?_57767977)_(57771213_?)del
NM_001288653.2(CLTC):c.1466C>G (p.Pro489Arg) rs2143548929
NM_004859.4(CLTC):c.1000A>G (p.Ile334Val)
NM_004859.4(CLTC):c.1006C>T (p.Pro336Ser)
NM_004859.4(CLTC):c.1017C>T (p.Thr339=) rs2143540726
NM_004859.4(CLTC):c.1019A>G (p.Asn340Ser)
NM_004859.4(CLTC):c.1031A>G (p.Asn344Ser)
NM_004859.4(CLTC):c.1039T>C (p.Leu347=)
NM_004859.4(CLTC):c.1044T>A (p.Ala348=)
NM_004859.4(CLTC):c.1051A>G (p.Met351Val)
NM_004859.4(CLTC):c.1060C>T (p.Arg354Cys)
NM_004859.4(CLTC):c.1061G>A (p.Arg354His)
NM_004859.4(CLTC):c.1069T>C (p.Leu357=) rs1207209041
NM_004859.4(CLTC):c.1074C>T (p.Ala358=)
NM_004859.4(CLTC):c.1087C>T (p.Leu363Phe)
NM_004859.4(CLTC):c.1098G>A (p.Arg366=)
NM_004859.4(CLTC):c.1103T>G (p.Phe368Cys)
NM_004859.4(CLTC):c.1108G>A (p.Ala370Thr)
NM_004859.4(CLTC):c.1127A>G (p.Asn376Ser)
NM_004859.4(CLTC):c.112A>G (p.Ile38Val)
NM_004859.4(CLTC):c.1134G>A (p.Ser378=)
NM_004859.4(CLTC):c.1140A>C (p.Ala380=) rs2143540916
NM_004859.4(CLTC):c.1146G>A (p.Lys382=)
NM_004859.4(CLTC):c.1162C>T (p.Pro388Ser)
NM_004859.4(CLTC):c.1167+12T>G
NM_004859.4(CLTC):c.1167+3A>G
NM_004859.4(CLTC):c.1168-18C>A
NM_004859.4(CLTC):c.1177C>T (p.Arg393Cys)
NM_004859.4(CLTC):c.1178G>A (p.Arg393His)
NM_004859.4(CLTC):c.117C>T (p.Cys39=)
NM_004859.4(CLTC):c.1183C>T (p.Pro395Ser)
NM_004859.4(CLTC):c.1185A>G (p.Pro395=)
NM_004859.4(CLTC):c.1189A>G (p.Thr397Ala)
NM_004859.4(CLTC):c.1193T>G (p.Ile398Ser)
NM_004859.4(CLTC):c.1198C>A (p.Arg400=)
NM_004859.4(CLTC):c.1201T>A (p.Phe401Ile)
NM_004859.4(CLTC):c.1204C>T (p.Gln402Ter)
NM_004859.4(CLTC):c.1213C>G (p.Pro405Ala)
NM_004859.4(CLTC):c.1222C>T (p.Pro408Ser)
NM_004859.4(CLTC):c.1236T>C (p.Ser412=)
NM_004859.4(CLTC):c.1254T>C (p.Phe418=)
NM_004859.4(CLTC):c.1256G>A (p.Gly419Asp)
NM_004859.4(CLTC):c.1272G>A (p.Gln424=)
NM_004859.4(CLTC):c.1284C>T (p.Asn428=) rs778510156
NM_004859.4(CLTC):c.1290C>T (p.Tyr430=)
NM_004859.4(CLTC):c.1307del (p.Cys436fs) rs1598223933
NM_004859.4(CLTC):c.1323G>C (p.Gln441His)
NM_004859.4(CLTC):c.1326A>G (p.Gln442=)
NM_004859.4(CLTC):c.1330C>T (p.Arg444Ter)
NM_004859.4(CLTC):c.133G>T (p.Gly45Ter)
NM_004859.4(CLTC):c.1342T>C (p.Leu448=)
NM_004859.4(CLTC):c.1356A>G (p.Leu452=)
NM_004859.4(CLTC):c.1368+18G>T
NM_004859.4(CLTC):c.1368+4C>T rs1212549384
NM_004859.4(CLTC):c.1368+7T>C
NM_004859.4(CLTC):c.1368+9_1368+13del
NM_004859.4(CLTC):c.1369-19C>T rs2032664989
NM_004859.4(CLTC):c.1379C>T (p.Ser460Phe)
NM_004859.4(CLTC):c.1394A>G (p.Asp465Gly)
NM_004859.4(CLTC):c.1413C>A (p.Asp471Glu)
NM_004859.4(CLTC):c.1414C>G (p.Pro472Ala)
NM_004859.4(CLTC):c.1417A>G (p.Thr473Ala)
NM_004859.4(CLTC):c.141G>A (p.Gln47=)
NM_004859.4(CLTC):c.1423del (p.Ala475fs) rs2032665966
NM_004859.4(CLTC):c.142G>T (p.Ala48Ser)
NM_004859.4(CLTC):c.1452C>G (p.Val484=)
NM_004859.4(CLTC):c.1452C>T (p.Val484=)
NM_004859.4(CLTC):c.1460_1461del (p.Lys487fs) rs1598225571
NM_004859.4(CLTC):c.146A>G (p.Gln49Arg)
NM_004859.4(CLTC):c.1497A>G (p.Gln499=)
NM_004859.4(CLTC):c.1509A>G (p.Leu503=)
NM_004859.4(CLTC):c.1510T>C (p.Tyr504His)
NM_004859.4(CLTC):c.1514C>T (p.Ala505Val)
NM_004859.4(CLTC):c.1515T>C (p.Ala505=)
NM_004859.4(CLTC):c.1521+17A>C rs920028066
NM_004859.4(CLTC):c.1521+18_1521+19del rs2143548995
NM_004859.4(CLTC):c.1522-14_1522-13del
NM_004859.4(CLTC):c.1522-4A>G
NM_004859.4(CLTC):c.1522-8_1522-5del rs567648156
NM_004859.4(CLTC):c.1535C>T (p.Pro512Leu) rs2143551058
NM_004859.4(CLTC):c.1537G>A (p.Asp513Asn)
NM_004859.4(CLTC):c.1561G>A (p.Val521Ile)
NM_004859.4(CLTC):c.1568G>A (p.Arg523Gln)
NM_004859.4(CLTC):c.1569A>T (p.Arg523=) rs912653558
NM_004859.4(CLTC):c.1576C>T (p.Pro526Ser)
NM_004859.4(CLTC):c.1584G>A (p.Gln528=)
NM_004859.4(CLTC):c.1592A>T (p.Gln531Leu) rs2032692372
NM_004859.4(CLTC):c.1595T>G (p.Phe532Cys)
NM_004859.4(CLTC):c.1605G>A (p.Met535Ile)
NM_004859.4(CLTC):c.1605G>T (p.Met535Ile)
NM_004859.4(CLTC):c.1631C>T (p.Ala544Val)
NM_004859.4(CLTC):c.1632T>C (p.Ala544=)
NM_004859.4(CLTC):c.1642C>A (p.Gln548Lys)
NM_004859.4(CLTC):c.1644+15A>G
NM_004859.4(CLTC):c.1644+3A>G
NM_004859.4(CLTC):c.1644+8G>T
NM_004859.4(CLTC):c.1645-13T>C
NM_004859.4(CLTC):c.1645-3T>C
NM_004859.4(CLTC):c.1645A>C (p.Ile549Leu)
NM_004859.4(CLTC):c.1646T>C (p.Ile549Thr)
NM_004859.4(CLTC):c.164T>C (p.Met55Thr)
NM_004859.4(CLTC):c.1660_1676dup (p.Ile559_Gln560insTrpAsnThrIleTer)
NM_004859.4(CLTC):c.1671T>C (p.Asn557=)
NM_004859.4(CLTC):c.1692A>G (p.Ala564=)
NM_004859.4(CLTC):c.1720C>T (p.Arg574Cys)
NM_004859.4(CLTC):c.1745C>T (p.Thr582Met)
NM_004859.4(CLTC):c.1746G>A (p.Thr582=)
NM_004859.4(CLTC):c.1747C>T (p.Arg583Trp)
NM_004859.4(CLTC):c.1748G>A (p.Arg583Gln)
NM_004859.4(CLTC):c.1760T>C (p.Met587Thr)
NM_004859.4(CLTC):c.1769T>C (p.Met590Thr)
NM_004859.4(CLTC):c.1775C>T (p.Ala592Val) rs757885268
NM_004859.4(CLTC):c.1776G>A (p.Ala592=)
NM_004859.4(CLTC):c.177T>C (p.Ser59=)
NM_004859.4(CLTC):c.1782+13_1782+22dup
NM_004859.4(CLTC):c.1782+3A>G
NM_004859.4(CLTC):c.1782A>G (p.Gln594=) rs889992786
NM_004859.4(CLTC):c.1783-15T>C
NM_004859.4(CLTC):c.1783-19C>T
NM_004859.4(CLTC):c.1783-20C>A
NM_004859.4(CLTC):c.1787C>G (p.Ala596Gly)
NM_004859.4(CLTC):c.1793C>G (p.Ala598Gly)
NM_004859.4(CLTC):c.1806T>A (p.Asn602Lys)
NM_004859.4(CLTC):c.1838T>C (p.Ile613Thr) rs1338687722
NM_004859.4(CLTC):c.1848G>C (p.Leu616=)
NM_004859.4(CLTC):c.1867C>T (p.Leu623=)
NM_004859.4(CLTC):c.1869G>A (p.Leu623=)
NM_004859.4(CLTC):c.1873C>T (p.Arg625Cys)
NM_004859.4(CLTC):c.1874G>A (p.Arg625His)
NM_004859.4(CLTC):c.187C>G (p.Arg63Gly) rs1598211790
NM_004859.4(CLTC):c.187C>T (p.Arg63Ter) rs1598211790
NM_004859.4(CLTC):c.1929C>T (p.Thr643=)
NM_004859.4(CLTC):c.1947+15del rs1436205388
NM_004859.4(CLTC):c.1947+5T>C
NM_004859.4(CLTC):c.1947+6dup rs781574959
NM_004859.4(CLTC):c.1947+7_1947+8del rs1224209325
NM_004859.4(CLTC):c.1947+8A>T
NM_004859.4(CLTC):c.1948-14_1948-11del
NM_004859.4(CLTC):c.1948-18A>G
NM_004859.4(CLTC):c.1948-19C>A
NM_004859.4(CLTC):c.1948-6T>C
NM_004859.4(CLTC):c.1958A>G (p.Asn653Ser)
NM_004859.4(CLTC):c.1968T>C (p.Gly656=) rs2143556541
NM_004859.4(CLTC):c.1980A>G (p.Val660=)
NM_004859.4(CLTC):c.1983A>T (p.Glu661Asp)
NM_004859.4(CLTC):c.1999C>T (p.Leu667Phe)
NM_004859.4(CLTC):c.2001C>G (p.Leu667=)
NM_004859.4(CLTC):c.2004A>C (p.Arg668Ser)
NM_004859.4(CLTC):c.2005G>A (p.Ala669Thr)
NM_004859.4(CLTC):c.201A>G (p.Ser67=) rs763699625
NM_004859.4(CLTC):c.202G>A (p.Ala68Thr) rs2143497090
NM_004859.4(CLTC):c.2048T>G (p.Val683Gly)
NM_004859.4(CLTC):c.2050C>T (p.Gln684Ter) rs1555605497
NM_004859.4(CLTC):c.2056G>A (p.Ala686Thr)
NM_004859.4(CLTC):c.2060C>T (p.Ser687Phe) rs2143556685
NM_004859.4(CLTC):c.2079G>C (p.Leu693=)
NM_004859.4(CLTC):c.2089T>A (p.Ser697Thr)
NM_004859.4(CLTC):c.2094G>C (p.Leu698=) rs2143556774
NM_004859.4(CLTC):c.2096T>C (p.Ile699Thr)
NM_004859.4(CLTC):c.211G>A (p.Ala71Thr)
NM_004859.4(CLTC):c.2128+16T>G
NM_004859.4(CLTC):c.2128+18A>G
NM_004859.4(CLTC):c.2128+22_2128+24del
NM_004859.4(CLTC):c.2128+6T>G
NM_004859.4(CLTC):c.2129-7C>G
NM_004859.4(CLTC):c.2129-7_2129-4del rs2143561043
NM_004859.4(CLTC):c.2132T>C (p.Leu711Pro)
NM_004859.4(CLTC):c.2145G>A (p.Leu715=)
NM_004859.4(CLTC):c.214A>G (p.Ile72Val)
NM_004859.4(CLTC):c.2187T>C (p.Phe729=)
NM_004859.4(CLTC):c.2217G>A (p.Gly739=)
NM_004859.4(CLTC):c.2236A>G (p.Arg746Gly)
NM_004859.4(CLTC):c.2237G>T (p.Arg746Ile)
NM_004859.4(CLTC):c.2246G>A (p.Arg749Lys)
NM_004859.4(CLTC):c.2255A>G (p.Asn752Ser)
NM_004859.4(CLTC):c.2259C>A (p.Cys753Ter) rs1454289985
NM_004859.4(CLTC):c.2292+12dup
NM_004859.4(CLTC):c.2292+15G>A rs2143561545
NM_004859.4(CLTC):c.2292+19T>C
NM_004859.4(CLTC):c.2292+5G>A rs2143561508
NM_004859.4(CLTC):c.2293-14del
NM_004859.4(CLTC):c.2293-15T>C
NM_004859.4(CLTC):c.2293-15_2293-12del
NM_004859.4(CLTC):c.2293-18T>G
NM_004859.4(CLTC):c.2293-4T>C
NM_004859.4(CLTC):c.2293-4dup rs1347858673
NM_004859.4(CLTC):c.2293-7_2293-4del
NM_004859.4(CLTC):c.2293-9T>A
NM_004859.4(CLTC):c.2298A>G (p.Ala766=)
NM_004859.4(CLTC):c.22C>G (p.Arg8Gly)
NM_004859.4(CLTC):c.2316A>G (p.Leu772=)
NM_004859.4(CLTC):c.2319A>G (p.Pro773=)
NM_004859.4(CLTC):c.231C>T (p.Ser77=)
NM_004859.4(CLTC):c.2325C>T (p.Ile775=)
NM_004859.4(CLTC):c.2325_2327del (p.Ile776del) rs1598233581
NM_004859.4(CLTC):c.2337T>C (p.Asp779=) rs1259086860
NM_004859.4(CLTC):c.2340A>T (p.Arg780=)
NM_004859.4(CLTC):c.2355T>C (p.His785=) rs2143573199
NM_004859.4(CLTC):c.2367C>T (p.Leu789=)
NM_004859.4(CLTC):c.2376T>C (p.Tyr792=)
NM_004859.4(CLTC):c.2403G>A (p.Glu801=)
NM_004859.4(CLTC):c.2409T>G (p.Tyr803Ter) rs1197039101
NM_004859.4(CLTC):c.2418+11T>C
NM_004859.4(CLTC):c.2418+18A>C
NM_004859.4(CLTC):c.2418+20T>C
NM_004859.4(CLTC):c.2418+5G>A rs1223584288
NM_004859.4(CLTC):c.2418+9T>C
NM_004859.4(CLTC):c.2419-14_2419-12del
NM_004859.4(CLTC):c.2419-20C>G
NM_004859.4(CLTC):c.2419-20C>T
NM_004859.4(CLTC):c.2419-20_2419-19del rs771933615
NM_004859.4(CLTC):c.2426C>G (p.Pro809Arg)
NM_004859.4(CLTC):c.2429G>A (p.Ser810Asn)
NM_004859.4(CLTC):c.2439T>A (p.Pro813=)
NM_004859.4(CLTC):c.2448T>C (p.Ile816=)
NM_004859.4(CLTC):c.2471G>T (p.Cys824Phe)
NM_004859.4(CLTC):c.2487A>T (p.Ile829=)
NM_004859.4(CLTC):c.24T>C (p.Arg8=)
NM_004859.4(CLTC):c.250+11A>G
NM_004859.4(CLTC):c.250+14_250+15del
NM_004859.4(CLTC):c.250+15G>T
NM_004859.4(CLTC):c.250+1G>T
NM_004859.4(CLTC):c.250+23C>T
NM_004859.4(CLTC):c.250+28A>G
NM_004859.4(CLTC):c.250+34_250+37del
NM_004859.4(CLTC):c.250+4T>C
NM_004859.4(CLTC):c.250+5A>C rs758243749
NM_004859.4(CLTC):c.2502T>C (p.Leu834=)
NM_004859.4(CLTC):c.251-15T>C
NM_004859.4(CLTC):c.251-16T>C
NM_004859.4(CLTC):c.251-17C>T
NM_004859.4(CLTC):c.2517A>G (p.Gln839=) rs2143575574
NM_004859.4(CLTC):c.2526T>C (p.Thr842=) rs1243603385
NM_004859.4(CLTC):c.2531A>G (p.Glu844Gly)
NM_004859.4(CLTC):c.2539G>A (p.Ala847Thr)
NM_004859.4(CLTC):c.2540C>T (p.Ala847Val) rs2143575602
NM_004859.4(CLTC):c.2560A>T (p.Arg854Ter) rs1555606338
NM_004859.4(CLTC):c.2561+10C>T
NM_004859.4(CLTC):c.2561+3G>A
NM_004859.4(CLTC):c.2561+6G>A
NM_004859.4(CLTC):c.2561+9C>G
NM_004859.4(CLTC):c.2562-11T>G
NM_004859.4(CLTC):c.2562-14T>C
NM_004859.4(CLTC):c.2562-14del
NM_004859.4(CLTC):c.2562-19TTTTTTCC[3]
NM_004859.4(CLTC):c.2562-4C>G
NM_004859.4(CLTC):c.2562-6dup
NM_004859.4(CLTC):c.2562A>G (p.Arg854=)
NM_004859.4(CLTC):c.2568A>G (p.Lys856=)
NM_004859.4(CLTC):c.2573T>C (p.Leu858Pro)
NM_004859.4(CLTC):c.2573_2578del (p.Leu858_Leu859del) rs2143580569
NM_004859.4(CLTC):c.2574T>G (p.Leu858=)
NM_004859.4(CLTC):c.2591C>T (p.Ala864Val)
NM_004859.4(CLTC):c.2601_2603dup (p.His867_Glu868insAsp)
NM_004859.4(CLTC):c.2607C>G (p.Gly869=)
NM_004859.4(CLTC):c.261T>C (p.Thr87=)
NM_004859.4(CLTC):c.2622T>C (p.Ala874=)
NM_004859.4(CLTC):c.2624C>T (p.Thr875Ile) rs2143580624
NM_004859.4(CLTC):c.262C>T (p.Leu88Phe)
NM_004859.4(CLTC):c.2630A>G (p.Asn877Ser) rs2143580641
NM_004859.4(CLTC):c.2634C>G (p.Ala878=)
NM_004859.4(CLTC):c.2640C>T (p.Ala880=)
NM_004859.4(CLTC):c.2646C>T (p.Ile882=)
NM_004859.4(CLTC):c.2648A>G (p.Tyr883Cys)
NM_004859.4(CLTC):c.2650A>G (p.Ile884Val)
NM_004859.4(CLTC):c.2651_2652del (p.Ile884fs) rs1555606630
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004859.4(CLTC):c.2675G>A (p.Arg892Lys)
NM_004859.4(CLTC):c.2683C>T (p.Arg895Cys)
NM_004859.4(CLTC):c.268A>T (p.Ile90Phe)
NM_004859.4(CLTC):c.2704A>G (p.Ser902Gly)
NM_004859.4(CLTC):c.2705G>A (p.Ser902Asn)
NM_004859.4(CLTC):c.2708G>A (p.Arg903His)
NM_004859.4(CLTC):c.2710G>A (p.Val904Ile)
NM_004859.4(CLTC):c.2713G>A (p.Val905Ile) rs2143580785
NM_004859.4(CLTC):c.2718A>G (p.Gly906=)
NM_004859.4(CLTC):c.2726G>A (p.Cys909Tyr)
NM_004859.4(CLTC):c.2737_2738del (p.Asp913fs) rs797044884
NM_004859.4(CLTC):c.2751C>T (p.Ala917=)
NM_004859.4(CLTC):c.2753G>A (p.Cys918Tyr)
NM_004859.4(CLTC):c.2762A>G (p.Tyr921Cys) rs2143580864
NM_004859.4(CLTC):c.2775A>T (p.Gln925His)
NM_004859.4(CLTC):c.2780A>G (p.Asp927Gly)
NM_004859.4(CLTC):c.2792T>C (p.Ile931Thr)
NM_004859.4(CLTC):c.2793_2794del (p.Asn932fs) rs1555606652
NM_004859.4(CLTC):c.2796+15C>A
NM_004859.4(CLTC):c.2796+4A>G
NM_004859.4(CLTC):c.2797-12T>C rs2143586411
NM_004859.4(CLTC):c.2797-14_2797-13insT
NM_004859.4(CLTC):c.2797-15dup
NM_004859.4(CLTC):c.2797-16A>G
NM_004859.4(CLTC):c.2797-19T>C
NM_004859.4(CLTC):c.2797-4T>C
NM_004859.4(CLTC):c.2797-5T>C
NM_004859.4(CLTC):c.27T>C (p.Phe9=)
NM_004859.4(CLTC):c.2823_2824del (p.Leu943fs) rs2143586491
NM_004859.4(CLTC):c.2829T>C (p.Leu943=)
NM_004859.4(CLTC):c.2833C>T (p.Arg945Cys)
NM_004859.4(CLTC):c.2846G>A (p.Arg949His)
NM_004859.4(CLTC):c.2849G>A (p.Arg950Gln)
NM_004859.4(CLTC):c.2857C>G (p.Pro953Ala)
NM_004859.4(CLTC):c.2860G>A (p.Glu954Lys)
NM_004859.4(CLTC):c.2863T>C (p.Leu955=)
NM_004859.4(CLTC):c.2874C>A (p.Ser958Arg)
NM_004859.4(CLTC):c.2875G>A (p.Val959Met)
NM_004859.4(CLTC):c.2887A>G (p.Ser963Gly)
NM_004859.4(CLTC):c.2888G>A (p.Ser963Asn)
NM_004859.4(CLTC):c.2891A>G (p.Asn964Ser)
NM_004859.4(CLTC):c.2892T>A (p.Asn964Lys)
NM_004859.4(CLTC):c.2895T>G (p.Pro965=) rs2143586714
NM_004859.4(CLTC):c.2899A>T (p.Arg967Trp)
NM_004859.4(CLTC):c.2905C>T (p.Pro969Ser)
NM_004859.4(CLTC):c.2907C>A (p.Pro969=)
NM_004859.4(CLTC):c.2912T>G (p.Ile971Ser)
NM_004859.4(CLTC):c.2916C>T (p.Asp972=)
NM_004859.4(CLTC):c.2919+10G>C
NM_004859.4(CLTC):c.2919+16G>A
NM_004859.4(CLTC):c.2919+17T>C
NM_004859.4(CLTC):c.2919+7T>C rs2143586749
NM_004859.4(CLTC):c.2920-7T>C
NM_004859.4(CLTC):c.2932G>T (p.Ala978Ser)
NM_004859.4(CLTC):c.2952C>T (p.Asp984=)
NM_004859.4(CLTC):c.2959G>A (p.Glu987Lys)
NM_004859.4(CLTC):c.2964G>A (p.Val988=)
NM_004859.4(CLTC):c.2990C>G (p.Thr997Ser)
NM_004859.4(CLTC):c.2990C>T (p.Thr997Ile)
NM_004859.4(CLTC):c.2997C>G (p.Asp999Glu)
NM_004859.4(CLTC):c.3004A>T (p.Asn1002Tyr)
NM_004859.4(CLTC):c.300G>C (p.Lys100Asn)
NM_004859.4(CLTC):c.3015T>C (p.Ile1005=)
NM_004859.4(CLTC):c.3024G>A (p.Leu1008=)
NM_004859.4(CLTC):c.3025G>C (p.Glu1009Gln)
NM_004859.4(CLTC):c.3027G>A (p.Glu1009=)
NM_004859.4(CLTC):c.3048T>C (p.Ser1016=) rs2143590641
NM_004859.4(CLTC):c.3060A>G (p.Glu1020=)
NM_004859.4(CLTC):c.3065+11dup
NM_004859.4(CLTC):c.3065+18T>A rs2143590710
NM_004859.4(CLTC):c.3065+18T>G
NM_004859.4(CLTC):c.3065+1G>A rs750846632
NM_004859.4(CLTC):c.3065+7T>C
NM_004859.4(CLTC):c.3066-16C>A
NM_004859.4(CLTC):c.3066-18T>C
NM_004859.4(CLTC):c.3066-2A>G
NM_004859.4(CLTC):c.3066-8T>A
NM_004859.4(CLTC):c.3066-8dup rs200174514
NM_004859.4(CLTC):c.3081C>T (p.Leu1027=) rs1219080902
NM_004859.4(CLTC):c.3084T>C (p.Leu1028=)
NM_004859.4(CLTC):c.3084T>G (p.Leu1028=)
NM_004859.4(CLTC):c.30G>A (p.Gln10=)
NM_004859.4(CLTC):c.3110G>A (p.Arg1037His)
NM_004859.4(CLTC):c.3115C>T (p.Arg1039Cys)
NM_004859.4(CLTC):c.3130A>G (p.Ile1044Val)
NM_004859.4(CLTC):c.3139C>T (p.Leu1047=)
NM_004859.4(CLTC):c.3155C>A (p.Ala1052Asp)
NM_004859.4(CLTC):c.3164T>C (p.Ile1055Thr) rs2143591573
NM_004859.4(CLTC):c.3170A>C (p.Asn1057Thr) rs372461487
NM_004859.4(CLTC):c.3171T>A (p.Asn1057Lys)
NM_004859.4(CLTC):c.3174C>T (p.Ile1058=)
NM_004859.4(CLTC):c.3175G>T (p.Ala1059Ser)
NM_004859.4(CLTC):c.3187_3188delinsAT (p.Glu1063Met) rs2143591608
NM_004859.4(CLTC):c.3192G>A (p.Leu1064=)
NM_004859.4(CLTC):c.3212T>C (p.Ile1071Thr)
NM_004859.4(CLTC):c.3216C>T (p.Phe1072=) rs2143591650
NM_004859.4(CLTC):c.3218G>A (p.Arg1073Gln)
NM_004859.4(CLTC):c.3219G>A (p.Arg1073=)
NM_004859.4(CLTC):c.321T>A (p.Asp107Glu)
NM_004859.4(CLTC):c.3229G>A (p.Val1077Ile) rs2143591677
NM_004859.4(CLTC):c.3233A>G (p.Asn1078Ser)
NM_004859.4(CLTC):c.3234T>C (p.Asn1078=) rs2033079821
NM_004859.4(CLTC):c.3249+18del rs1399810157
NM_004859.4(CLTC):c.3249+1_3249+2dup
NM_004859.4(CLTC):c.3249+4A>C
NM_004859.4(CLTC):c.3249+6T>C
NM_004859.4(CLTC):c.3249G>A (p.Gln1083=)
NM_004859.4(CLTC):c.3250-16A>C
NM_004859.4(CLTC):c.3250-4T>C
NM_004859.4(CLTC):c.3250-5C>G
NM_004859.4(CLTC):c.3250-5C>T
NM_004859.4(CLTC):c.3250-8A>G
NM_004859.4(CLTC):c.3250-9dup rs1458985737
NM_004859.4(CLTC):c.3266T>C (p.Ile1089Thr) rs199715555
NM_004859.4(CLTC):c.3269G>A (p.Gly1090Glu)
NM_004859.4(CLTC):c.326C>A (p.Thr109Asn)
NM_004859.4(CLTC):c.3280C>T (p.Arg1094Trp) rs2143592283
NM_004859.4(CLTC):c.3281G>A (p.Arg1094Gln)
NM_004859.4(CLTC):c.3285A>C (p.Ala1095=)
NM_004859.4(CLTC):c.3291G>A (p.Glu1097=)
NM_004859.4(CLTC):c.3302G>A (p.Arg1101His)
NM_004859.4(CLTC):c.3318G>A (p.Ala1106=)
NM_004859.4(CLTC):c.3319G>A (p.Val1107Ile)
NM_004859.4(CLTC):c.3330A>C (p.Gln1110His) rs2143592350
NM_004859.4(CLTC):c.3361G>A (p.Val1121Met) rs1292073753
NM_004859.4(CLTC):c.3363G>T (p.Val1121=)
NM_004859.4(CLTC):c.3379T>A (p.Ser1127Thr)
NM_004859.4(CLTC):c.3380C>T (p.Ser1127Phe) rs2143592469
NM_004859.4(CLTC):c.3382T>A (p.Tyr1128Asn)
NM_004859.4(CLTC):c.3383A>G (p.Tyr1128Cys)
NM_004859.4(CLTC):c.3384T>C (p.Tyr1128=)
NM_004859.4(CLTC):c.3386_3388delinsAGCTTTGAT (p.Ile1129_Lys1130delinsLysLeuTer) rs1555607235
NM_004859.4(CLTC):c.3398A>T (p.Asp1133Val) rs2143592526
NM_004859.4(CLTC):c.3402T>C (p.Pro1134=)
NM_004859.4(CLTC):c.3411C>T (p.Tyr1137=) rs1245184650
NM_004859.4(CLTC):c.3412A>G (p.Met1138Val)
NM_004859.4(CLTC):c.3423T>C (p.Val1141=)
NM_004859.4(CLTC):c.3425A>C (p.Gln1142Pro) rs2143592588
NM_004859.4(CLTC):c.3428C>T (p.Ala1143Val) rs2143592603
NM_004859.4(CLTC):c.3432C>T (p.Ala1144=)
NM_004859.4(CLTC):c.3434A>G (p.Asn1145Ser)
NM_004859.4(CLTC):c.3442+14C>A
NM_004859.4(CLTC):c.3442+16T>C rs2143592703
NM_004859.4(CLTC):c.3442+1G>T
NM_004859.4(CLTC):c.3442+20G>A
NM_004859.4(CLTC):c.3442+3A>G
NM_004859.4(CLTC):c.3443-8A>G
NM_004859.4(CLTC):c.3443-9T>C rs2033095749
NM_004859.4(CLTC):c.3459G>A (p.Leu1153=)
NM_004859.4(CLTC):c.3469T>C (p.Leu1157=)
NM_004859.4(CLTC):c.3482G>A (p.Arg1161His) rs1451355390
NM_004859.4(CLTC):c.3492T>A (p.Ala1164=)
NM_004859.4(CLTC):c.3494G>A (p.Arg1165Gln) rs758426914
NM_004859.4(CLTC):c.3498G>C (p.Glu1166Asp) rs2143593710
NM_004859.4(CLTC):c.34C>T (p.His12Tyr)
NM_004859.4(CLTC):c.3503A>G (p.Tyr1168Cys)
NM_004859.4(CLTC):c.3514_3515del (p.Glu1172fs) rs1598241437
NM_004859.4(CLTC):c.3517C>T (p.Leu1173=)
NM_004859.4(CLTC):c.3522A>G (p.Ile1174Met)
NM_004859.4(CLTC):c.3531G>A (p.Leu1177=)
NM_004859.4(CLTC):c.3536A>C (p.Lys1179Thr)
NM_004859.4(CLTC):c.3562G>C (p.Glu1188Gln)
NM_004859.4(CLTC):c.3566T>G (p.Phe1189Cys)
NM_004859.4(CLTC):c.3569T>C (p.Ile1190Thr)
NM_004859.4(CLTC):c.3577C>A (p.Pro1193Thr)
NM_004859.4(CLTC):c.3592A>G (p.Ile1198Val)
NM_004859.4(CLTC):c.3600+5G>A
NM_004859.4(CLTC):c.3600+6_3600+21dup
NM_004859.4(CLTC):c.3600+7T>C
NM_004859.4(CLTC):c.3601-14C>T rs1377421089
NM_004859.4(CLTC):c.3601-19G>A
NM_004859.4(CLTC):c.3601-20G>A
NM_004859.4(CLTC):c.3601-5del
NM_004859.4(CLTC):c.3601-5dup
NM_004859.4(CLTC):c.3601-9T>A rs768618316
NM_004859.4(CLTC):c.3609C>T (p.Asp1203=)
NM_004859.4(CLTC):c.3611G>A (p.Arg1204His)
NM_004859.4(CLTC):c.3612T>C (p.Arg1204=)
NM_004859.4(CLTC):c.3615T>C (p.Cys1205=)
NM_004859.4(CLTC):c.361C>G (p.Leu121Val)
NM_004859.4(CLTC):c.3621T>C (p.Asp1207=)
NM_004859.4(CLTC):c.3634G>A (p.Asp1212Asn)
NM_004859.4(CLTC):c.3637GCT[1] (p.Ala1214del) rs1555607332
NM_004859.4(CLTC):c.3653A>G (p.Tyr1218Cys)
NM_004859.4(CLTC):c.3659A>G (p.Asn1220Ser)
NM_004859.4(CLTC):c.3671T>G (p.Phe1224Cys)
NM_004859.4(CLTC):c.3672T>C (p.Phe1224=)
NM_004859.4(CLTC):c.3676C>T (p.Arg1226Cys)
NM_004859.4(CLTC):c.3684A>G (p.Ala1228=)
NM_004859.4(CLTC):c.369G>A (p.Thr123=)
NM_004859.4(CLTC):c.3708A>G (p.Glu1236=)
NM_004859.4(CLTC):c.371A>G (p.Asp124Gly)
NM_004859.4(CLTC):c.3741T>C (p.Ala1247=)
NM_004859.4(CLTC):c.3766-4C>T
NM_004859.4(CLTC):c.3766-8del
NM_004859.4(CLTC):c.3769T>G (p.Cys1257Gly)
NM_004859.4(CLTC):c.3770G>C (p.Cys1257Ser)
NM_004859.4(CLTC):c.3773T>C (p.Phe1258Ser)
NM_004859.4(CLTC):c.3775G>A (p.Ala1259Thr)
NM_004859.4(CLTC):c.3785A>T (p.Asp1262Val)
NM_004859.4(CLTC):c.378A>G (p.Ala126=)
NM_004859.4(CLTC):c.3792A>G (p.Lys1264=) rs1164560328
NM_004859.4(CLTC):c.3795A>T (p.Glu1265Asp)
NM_004859.4(CLTC):c.3799C>T (p.Arg1267Cys)
NM_004859.4(CLTC):c.379G>T (p.Val127Phe)
NM_004859.4(CLTC):c.3800G>A (p.Arg1267His)
NM_004859.4(CLTC):c.3813G>A (p.Met1271Ile) rs972611601
NM_004859.4(CLTC):c.3818G>A (p.Gly1273Glu)
NM_004859.4(CLTC):c.3835C>T (p.His1279Tyr)
NM_004859.4(CLTC):c.3837T>G (p.His1279Gln)
NM_004859.4(CLTC):c.385C>G (p.His129Asp)
NM_004859.4(CLTC):c.385C>T (p.His129Tyr)
NM_004859.4(CLTC):c.3862A>G (p.Asn1288Asp)
NM_004859.4(CLTC):c.3873+9G>A
NM_004859.4(CLTC):c.3874-19G>A
NM_004859.4(CLTC):c.3874-3C>T
NM_004859.4(CLTC):c.3874-9C>G
NM_004859.4(CLTC):c.3874G>C (p.Asp1292His)
NM_004859.4(CLTC):c.3876T>G (p.Asp1292Glu)
NM_004859.4(CLTC):c.3878G>A (p.Arg1293His) rs911275826
NM_004859.4(CLTC):c.3878G>T (p.Arg1293Leu)
NM_004859.4(CLTC):c.3909G>A (p.Leu1303=) rs2143595489
NM_004859.4(CLTC):c.3918A>C (p.Ala1306=)
NM_004859.4(CLTC):c.3928G>C (p.Glu1310Gln)
NM_004859.4(CLTC):c.3931C>T (p.Arg1311Ter) rs1336573328
NM_004859.4(CLTC):c.3941T>C (p.Met1314Thr)
NM_004859.4(CLTC):c.3945A>G (p.Gly1315=)
NM_004859.4(CLTC):c.405G>A (p.Glu135=)
NM_004859.4(CLTC):c.408T>C (p.Ser136=)
NM_004859.4(CLTC):c.412C>A (p.Pro138Thr)
NM_004859.4(CLTC):c.42+12C>A rs2031320314
NM_004859.4(CLTC):c.42+12C>T
NM_004859.4(CLTC):c.42+12_42+32del rs2143420685
NM_004859.4(CLTC):c.42+13C>T
NM_004859.4(CLTC):c.42+17G>A
NM_004859.4(CLTC):c.42+4C>A
NM_004859.4(CLTC):c.42+9G>A
NM_004859.4(CLTC):c.43-11_43-9del
NM_004859.4(CLTC):c.43-13T>C
NM_004859.4(CLTC):c.43-14A>C
NM_004859.4(CLTC):c.43-18T>A
NM_004859.4(CLTC):c.430C>T (p.Arg144Cys)
NM_004859.4(CLTC):c.43C>G (p.Leu15Val)
NM_004859.4(CLTC):c.4435-15C>T rs2033154727
NM_004859.4(CLTC):c.4435-15del
NM_004859.4(CLTC):c.4435-16_4435-15insT
NM_004859.4(CLTC):c.4435-4del rs567422985
NM_004859.4(CLTC):c.4435-4dup rs567422985
NM_004859.4(CLTC):c.4435-5_4435-4dup
NM_004859.4(CLTC):c.4435-7_4435-4del rs567422985
NM_004859.4(CLTC):c.4435-9T>A rs1046812249
NM_004859.4(CLTC):c.4606-8T>G
NM_004859.4(CLTC):c.4612A>G (p.Met1538Val)
NM_004859.4(CLTC):c.4616A>G (p.Gln1539Arg) rs1378922042
NM_004859.4(CLTC):c.4638T>G (p.Asp1546Glu)
NM_004859.4(CLTC):c.4640C>G (p.Thr1547Ser)
NM_004859.4(CLTC):c.4641T>C (p.Thr1547=) rs2143602176
NM_004859.4(CLTC):c.4642_4643delinsTT (p.Glu1548Leu)
NM_004859.4(CLTC):c.4665G>A (p.Gln1555=)
NM_004859.4(CLTC):c.4673T>G (p.Leu1558Trp) rs2143602208
NM_004859.4(CLTC):c.4678G>A (p.Glu1560Lys)
NM_004859.4(CLTC):c.4682A>G (p.Glu1561Gly)
NM_004859.4(CLTC):c.4688G>A (p.Arg1563Lys)
NM_004859.4(CLTC):c.4689A>C (p.Arg1563Ser)
NM_004859.4(CLTC):c.4691_4692del (p.Glu1564fs) rs2143602282
NM_004859.4(CLTC):c.4723G>A (p.Asp1575Asn)
NM_004859.4(CLTC):c.4739A>C (p.Asp1580Ala)
NM_004859.4(CLTC):c.4742T>C (p.Val1581Ala)
NM_004859.4(CLTC):c.4743C>A (p.Val1581=)
NM_004859.4(CLTC):c.474A>G (p.Thr158=)
NM_004859.4(CLTC):c.4763G>A (p.Arg1588Lys)
NM_004859.4(CLTC):c.4785C>G (p.Ala1595=)
NM_004859.4(CLTC):c.4791del (p.Tyr1598fs)
NM_004859.4(CLTC):c.4800C>T (p.Ile1600=)
NM_004859.4(CLTC):c.4827+11T>C rs2143602593
NM_004859.4(CLTC):c.4827+1241del
NM_004859.4(CLTC):c.4827+6G>T
NM_004859.4(CLTC):c.4828-19A>G
NM_004859.4(CLTC):c.4828-20C>T
NM_004859.4(CLTC):c.4828-6C>T
NM_004859.4(CLTC):c.4828-7dup
NM_004859.4(CLTC):c.4857G>A (p.Leu1619=)
NM_004859.4(CLTC):c.485A>G (p.Gln162Arg)
NM_004859.4(CLTC):c.4860A>G (p.Arg1620=)
NM_004859.4(CLTC):c.4861_4863del (p.Lys1621del)
NM_004859.4(CLTC):c.4864GAA[2] (p.Glu1624del) rs750708530
NM_004859.4(CLTC):c.4870G>C (p.Glu1624Gln)
NM_004859.4(CLTC):c.4873C>G (p.Gln1625Glu) rs2143613611
NM_004859.4(CLTC):c.4873_4875del (p.Gln1625del) rs2033275832
NM_004859.4(CLTC):c.4875A>G (p.Gln1625=)
NM_004859.4(CLTC):c.4896T>C (p.Ile1632=)
NM_004859.4(CLTC):c.489G>A (p.Lys163=)
NM_004859.4(CLTC):c.4903+14G>C
NM_004859.4(CLTC):c.4903+5TC[2]
NM_004859.4(CLTC):c.4903+8C>G
NM_004859.4(CLTC):c.4903+8C>T rs747426413
NM_004859.4(CLTC):c.4904-16T>C rs1361950480
NM_004859.4(CLTC):c.4904-17G>A
NM_004859.4(CLTC):c.4904-17G>T
NM_004859.4(CLTC):c.4904-6C>G
NM_004859.4(CLTC):c.4904-7A>G
NM_004859.4(CLTC):c.4904-7_4904-5del rs747917938
NM_004859.4(CLTC):c.4917G>A (p.Leu1639=)
NM_004859.4(CLTC):c.4920G>A (p.Met1640Ile)
NM_004859.4(CLTC):c.4928C>T (p.Ala1643Val)
NM_004859.4(CLTC):c.4933C>T (p.Pro1645Ser)
NM_004859.4(CLTC):c.4935C>T (p.Pro1645=)
NM_004859.4(CLTC):c.4941T>G (p.Val1647=)
NM_004859.4(CLTC):c.4955A>G (p.Gln1652Arg)
NM_004859.4(CLTC):c.4955del (p.Gln1652fs) rs2033363279
NM_004859.4(CLTC):c.4957G>C (p.Ala1653Pro) rs2143622776
NM_004859.4(CLTC):c.4959A>C (p.Ala1653=)
NM_004859.4(CLTC):c.4960C>G (p.Pro1654Ala) rs780043915
NM_004859.4(CLTC):c.4961C>T (p.Pro1654Leu)
NM_004859.4(CLTC):c.4971T>C (p.Tyr1657=)
NM_004859.4(CLTC):c.4980C>G (p.Thr1660=)
NM_004859.4(CLTC):c.4981G>A (p.Ala1661Thr)
NM_004859.4(CLTC):c.4986A>G (p.Pro1662=)
NM_004859.4(CLTC):c.4988C>T (p.Pro1663Leu)
NM_004859.4(CLTC):c.4991A>T (p.Tyr1664Phe)
NM_004859.4(CLTC):c.4992T>C (p.Tyr1664=)
NM_004859.4(CLTC):c.4995A>C (p.Gly1665=)
NM_004859.4(CLTC):c.4G>C (p.Ala2Pro)
NM_004859.4(CLTC):c.5004G>A (p.Gln1668=)
NM_004859.4(CLTC):c.5016G>A (p.Gly1672=)
NM_004859.4(CLTC):c.512C>G (p.Ser171Cys)
NM_004859.4(CLTC):c.519+10_519+11insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTGTTCAGGTGTGTTCTATTGGGAGCTGGGTGTGGGAGTGGGTGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACCTGCACAGGTAACATTTT
NM_004859.4(CLTC):c.519+13C>G
NM_004859.4(CLTC):c.519+2T>A
NM_004859.4(CLTC):c.527G>A (p.Arg176His) rs2143508027
NM_004859.4(CLTC):c.52C>T (p.Leu18=) rs1254839542
NM_004859.4(CLTC):c.541A>C (p.Met181Leu)
NM_004859.4(CLTC):c.549A>G (p.Leu183=) rs1193950178
NM_004859.4(CLTC):c.554C>T (p.Ser185Phe) rs2143508067
NM_004859.4(CLTC):c.556G>A (p.Val186Ile)
NM_004859.4(CLTC):c.562A>C (p.Arg188=) rs2143508096
NM_004859.4(CLTC):c.562A>G (p.Arg188Gly) rs2143508096
NM_004859.4(CLTC):c.567A>G (p.Lys189=)
NM_004859.4(CLTC):c.592G>A (p.Ala198Thr)
NM_004859.4(CLTC):c.594A>G (p.Ala198=)
NM_004859.4(CLTC):c.625A>G (p.Asn209Asp)
NM_004859.4(CLTC):c.626A>G (p.Asn209Ser)
NM_004859.4(CLTC):c.62A>G (p.Asn21Ser)
NM_004859.4(CLTC):c.630del (p.Glu211fs)
NM_004859.4(CLTC):c.636A>G (p.Glu212=)
NM_004859.4(CLTC):c.63C>T (p.Asn21=)
NM_004859.4(CLTC):c.640A>G (p.Thr214Ala) rs2143508232
NM_004859.4(CLTC):c.642G>A (p.Thr214=) rs774189767
NM_004859.4(CLTC):c.642G>C (p.Thr214=) rs774189767
NM_004859.4(CLTC):c.661C>T (p.Arg221Trp) rs2143508288
NM_004859.4(CLTC):c.666C>T (p.Gly222=)
NM_004859.4(CLTC):c.66A>T (p.Pro22=)
NM_004859.4(CLTC):c.672T>C (p.Ala224=)
NM_004859.4(CLTC):c.681+16G>A rs2143508341
NM_004859.4(CLTC):c.682-17G>T
NM_004859.4(CLTC):c.682-4A>C
NM_004859.4(CLTC):c.706C>T (p.Pro236Ser)
NM_004859.4(CLTC):c.707C>T (p.Pro236Leu)
NM_004859.4(CLTC):c.713C>T (p.Thr238Ile)
NM_004859.4(CLTC):c.725C>T (p.Pro242Leu)
NM_004859.4(CLTC):c.731C>T (p.Pro244Leu)
NM_004859.4(CLTC):c.741A>G (p.Ala247=)
NM_004859.4(CLTC):c.742G>A (p.Val248Met)
NM_004859.4(CLTC):c.751T>C (p.Phe251Leu)
NM_004859.4(CLTC):c.757C>T (p.Pro253Ser)
NM_004859.4(CLTC):c.764A>G (p.Glu255Gly)
NM_004859.4(CLTC):c.769C>T (p.Gln257Ter) rs1555603752
NM_004859.4(CLTC):c.778_791del (p.Phe260fs)
NM_004859.4(CLTC):c.78C>G (p.Gly26=)
NM_004859.4(CLTC):c.791T>A (p.Met264Lys)
NM_004859.4(CLTC):c.795+11C>G
NM_004859.4(CLTC):c.795+16T>C
NM_004859.4(CLTC):c.795+4T>G
NM_004859.4(CLTC):c.795+7T>C
NM_004859.4(CLTC):c.796-14T>C
NM_004859.4(CLTC):c.796-1G>A
NM_004859.4(CLTC):c.796-5T>C
NM_004859.4(CLTC):c.800G>A (p.Ser267Asn)
NM_004859.4(CLTC):c.807G>A (p.Lys269=) rs2143527776
NM_004859.4(CLTC):c.816G>A (p.Val272=) rs763095445
NM_004859.4(CLTC):c.819G>A (p.Val273=)
NM_004859.4(CLTC):c.840T>A (p.Gly280=)
NM_004859.4(CLTC):c.843T>C (p.Tyr281=)
NM_004859.4(CLTC):c.849C>T (p.His283=)
NM_004859.4(CLTC):c.870T>G (p.Gly290=)
NM_004859.4(CLTC):c.88C>T (p.Leu30=)
NM_004859.4(CLTC):c.893T>C (p.Ile298Thr)
NM_004859.4(CLTC):c.898G>A (p.Gly300Arg) rs2143527932
NM_004859.4(CLTC):c.91A>T (p.Thr31Ser)
NM_004859.4(CLTC):c.920C>T (p.Ala307Val)
NM_004859.4(CLTC):c.921A>G (p.Ala307=)
NM_004859.4(CLTC):c.925C>T (p.His309Tyr)
NM_004859.4(CLTC):c.931G>A (p.Ala311Thr)
NM_004859.4(CLTC):c.969+18C>T
NM_004859.4(CLTC):c.970-16A>G
NM_004859.4(CLTC):c.970-1731A>G
NM_004859.4(CLTC):c.970-18T>A
NM_004859.4(CLTC):c.970-4G>T
NM_004859.4(CLTC):c.975G>A (p.Leu325=)
NM_004859.4(CLTC):c.976T>A (p.Ser326Thr)
NM_004859.4(CLTC):c.978A>G (p.Ser326=)
NM_004859.4(CLTC):c.97G>T (p.Glu33Ter) rs2143496821
NM_004859.4(CLTC):c.984T>C (p.Cys328=) rs2032581874

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