ClinVar Miner

List of variants studied for Haim-Munk syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 445
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HGVS dbSNP gnomAD frequency
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87257
NM_001814.6(CTSC):c.458= (p.Ile153=) rs217086 0.12743
NM_001814.6(CTSC):c.-18T>C rs11019400 0.09158
NM_001814.5(CTSC):c.-74T>C rs11600158 0.07163
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) rs3888798 0.05696
NM_001814.6(CTSC):c.1173T>G (p.Thr391=) rs17594 0.05691
NM_001814.6(CTSC):c.825C>T (p.Thr275=) rs2230081 0.00790
NM_001814.6(CTSC):c.-62C>T rs139541967 0.00782
NM_001814.6(CTSC):c.*253T>C rs116618365 0.00709
NM_001814.6(CTSC):c.319-15C>T rs45539936 0.00539
NM_001814.6(CTSC):c.*279A>G rs146045268 0.00507
NM_001814.5(CTSC):c.-91T>G rs144306006 0.00400
NM_001814.6(CTSC):c.1146C>T (p.His382=) rs45558734 0.00199
NM_001814.6(CTSC):c.-45C>G rs181685520 0.00163
NM_001814.6(CTSC):c.1314C>T (p.Tyr438=) rs143736590 0.00053
NM_001814.6(CTSC):c.-48G>A rs200415443 0.00033
NM_001814.5(CTSC):c.-80G>C rs758293258 0.00028
NM_001814.6(CTSC):c.565A>G (p.Thr189Ala) rs200779585 0.00017
NM_001814.6(CTSC):c.259A>G (p.Ile87Val) rs45447392 0.00016
NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys) rs142378484 0.00016
NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys) rs146182103 0.00014
NM_001814.6(CTSC):c.1293C>T (p.Thr431=) rs371808747 0.00010
NM_001814.6(CTSC):c.29C>T (p.Ala10Val) rs765499436 0.00010
NM_001814.6(CTSC):c.930C>T (p.Tyr310=) rs148742372 0.00010
NM_001814.6(CTSC):c.-49C>T rs779871521 0.00009
NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys) rs200627023 0.00009
NM_001814.6(CTSC):c.777C>T (p.Tyr259=) rs147002502 0.00008
NM_001814.6(CTSC):c.948G>C (p.Leu316=) rs145373075 0.00006
NM_001814.6(CTSC):c.*381A>G rs939550734 0.00004
NM_001814.6(CTSC):c.195G>T (p.Val65=) rs776362819 0.00004
NM_001814.6(CTSC):c.395G>A (p.Arg132Gln) rs575727793 0.00004
NM_001814.6(CTSC):c.768C>T (p.Gly256=) rs776824336 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_001814.6(CTSC):c.90C>T (p.Cys30=) rs202160994 0.00003
NM_001814.6(CTSC):c.641+8A>G rs754068012 0.00002
NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr) rs748729285 0.00002
NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys) rs104894211 0.00001
NM_001814.6(CTSC):c.1097A>T (p.His366Leu) rs751798574 0.00001
NM_001814.6(CTSC):c.1176T>C (p.Gly392=) rs773977769 0.00001
NM_001814.6(CTSC):c.12G>A (p.Gly4=) rs755959403 0.00001
NM_001814.6(CTSC):c.1A>G (p.Met1Val) rs886048742 0.00001
NM_001814.6(CTSC):c.318+4A>G rs781383788 0.00001
NM_001814.6(CTSC):c.509A>G (p.Tyr170Cys) rs763656343 0.00001
NM_001814.6(CTSC):c.642-15A>G rs748280232 0.00001
NM_001814.6(CTSC):c.804A>G (p.Glu268=) rs1264570336 0.00001
NM_001814.6(CTSC):c.81T>G (p.Pro27=) rs1370319468 0.00001
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg) rs104894208 0.00001
NC_000011.10:g.(?_88293986)_(88337727_?)dup
NC_000011.9:g.(?_88027174)_(88029452_?)dup
NC_000011.9:g.(?_88027174)_(88033833_?)del
NC_000011.9:g.(?_88027174)_(88070840_?)del
NC_000011.9:g.(?_88027174)_(89018142_?)dup
NC_000011.9:g.(?_88027619)_(88030969_?)del
NC_000011.9:g.(?_88033678)_(88033833_?)del
NC_000011.9:g.(?_88040961)_(88042398_?)del
NC_000011.9:g.(?_88045475)_(88071056_?)del
NC_000011.9:g.(?_88045536)_(88045742_?)del
NC_000011.9:g.(?_88045536)_(88070840_?)del
NM_001814.6(CTSC):c.*350A>G rs1944265493
NM_001814.6(CTSC):c.*414A>G rs953848453
NM_001814.6(CTSC):c.-23C>G rs886048743
NM_001814.6(CTSC):c.-55C>A
NM_001814.6(CTSC):c.-7C>A rs770352776
NM_001814.6(CTSC):c.1006G>A (p.Asp336Asn)
NM_001814.6(CTSC):c.1007A>C (p.Asp336Ala)
NM_001814.6(CTSC):c.1010G>A (p.Cys337Tyr)
NM_001814.6(CTSC):c.1011C>T (p.Cys337=)
NM_001814.6(CTSC):c.1015C>T (p.Arg339Cys)
NM_001814.6(CTSC):c.1017T>C (p.Arg339=)
NM_001814.6(CTSC):c.1020T>C (p.Tyr340=)
NM_001814.6(CTSC):c.1024T>G (p.Ser342Ala)
NM_001814.6(CTSC):c.1033T>C (p.Tyr345His)
NM_001814.6(CTSC):c.1038C>T (p.His346=) rs1355697311
NM_001814.6(CTSC):c.1047del (p.Gly350fs)
NM_001814.6(CTSC):c.1053C>T (p.Phe351=)
NM_001814.6(CTSC):c.1055A>G (p.Tyr352Cys)
NM_001814.6(CTSC):c.1062C>T (p.Gly354=)
NM_001814.6(CTSC):c.1067A>G (p.Asn356Ser)
NM_001814.6(CTSC):c.1082A>C (p.Lys361Thr)
NM_001814.6(CTSC):c.1084C>G (p.Leu362Val)
NM_001814.6(CTSC):c.1086T>G (p.Leu362=)
NM_001814.6(CTSC):c.1094T>C (p.Val365Ala) rs1197515579
NM_001814.6(CTSC):c.1096del (p.His366fs)
NM_001814.6(CTSC):c.1104G>T (p.Gly368=)
NM_001814.6(CTSC):c.1119T>A (p.Ala373=)
NM_001814.6(CTSC):c.111C>T (p.Gly37=)
NM_001814.6(CTSC):c.1121T>C (p.Phe374Ser)
NM_001814.6(CTSC):c.1122del (p.Phe374fs)
NM_001814.6(CTSC):c.1123G>A (p.Glu375Lys) rs886048738
NM_001814.6(CTSC):c.1125A>G (p.Glu375=)
NM_001814.6(CTSC):c.1140C>T (p.Phe380=)
NM_001814.6(CTSC):c.1141del (p.Leu381fs) rs772132996
NM_001814.6(CTSC):c.1149C>T (p.Tyr383=)
NM_001814.6(CTSC):c.1149del (p.His382_Tyr383insTer)
NM_001814.6(CTSC):c.1158G>T (p.Gly386=)
NM_001814.6(CTSC):c.1159A>T (p.Ile387Phe)
NM_001814.6(CTSC):c.1160T>C (p.Ile387Thr)
NM_001814.6(CTSC):c.1161C>T (p.Ile387=)
NM_001814.6(CTSC):c.1165C>T (p.His389Tyr)
NM_001814.6(CTSC):c.1169A>G (p.His390Arg)
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001814.6(CTSC):c.1179A>G (p.Leu393=)
NM_001814.6(CTSC):c.1188T>G (p.Pro396=)
NM_001814.6(CTSC):c.1193A>G (p.Asn398Ser)
NM_001814.6(CTSC):c.1194C>A (p.Asn398Lys)
NM_001814.6(CTSC):c.1194C>G (p.Asn398Lys) rs201519830
NM_001814.6(CTSC):c.1194C>T (p.Asn398=)
NM_001814.6(CTSC):c.1197C>T (p.Pro399=)
NM_001814.6(CTSC):c.1202_1214del (p.Glu401fs)
NM_001814.6(CTSC):c.1222C>A (p.Leu408Met)
NM_001814.6(CTSC):c.1225C>G (p.Leu409Val)
NM_001814.6(CTSC):c.1227T>G (p.Leu409=)
NM_001814.6(CTSC):c.1233C>T (p.Gly411=)
NM_001814.6(CTSC):c.1239C>T (p.Gly413=)
NM_001814.6(CTSC):c.1242T>C (p.Thr414=)
NM_001814.6(CTSC):c.1246_1247del (p.Ala417fs)
NM_001814.6(CTSC):c.124del (p.Gln42fs)
NM_001814.6(CTSC):c.1254T>A (p.Ser418=)
NM_001814.6(CTSC):c.1257G>A (p.Gly419=)
NM_001814.6(CTSC):c.1257G>T (p.Gly419=)
NM_001814.6(CTSC):c.1272T>A (p.Ile424=)
NM_001814.6(CTSC):c.1272T>C (p.Ile424=)
NM_001814.6(CTSC):c.1276_1288A[5]CAGCTGGGCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAACCGCTGGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACAGCTGGG[1] (p.Trp429_Gly430insAlaAlaValArgProGlyArgGlnSerGluThrProSerGlnLysLysLysLysLysLysLysLysLysAsnArgTrpGlyXaaXaaXaaXaaLysLysLysLysLysLysLysAsnSerTrp)
NM_001814.6(CTSC):c.127G>T (p.Val43Leu)
NM_001814.6(CTSC):c.1280A>C (p.Asn427Thr)
NM_001814.6(CTSC):c.1284C>T (p.Ser428=)
NM_001814.6(CTSC):c.1286G>A (p.Trp429Ter)
NM_001814.6(CTSC):c.1289G>A (p.Gly430Asp)
NM_001814.6(CTSC):c.1294G>A (p.Gly432Ser)
NM_001814.6(CTSC):c.1303G>A (p.Glu435Lys)
NM_001814.6(CTSC):c.1317C>G (p.Phe439Leu)
NM_001814.6(CTSC):c.1318C>T (p.Arg440Trp)
NM_001814.6(CTSC):c.1319G>A (p.Arg440Gln)
NM_001814.6(CTSC):c.1320G>A (p.Arg440=)
NM_001814.6(CTSC):c.1323C>T (p.Ile441=)
NM_001814.6(CTSC):c.1325G>A (p.Arg442His)
NM_001814.6(CTSC):c.1335T>A (p.Thr445=)
NM_001814.6(CTSC):c.1335TGA[1] (p.Asp446del)
NM_001814.6(CTSC):c.1338T>C (p.Asp446=)
NM_001814.6(CTSC):c.1339G>T (p.Glu447Ter)
NM_001814.6(CTSC):c.1341G>A (p.Glu447=)
NM_001814.6(CTSC):c.1344T>C (p.Cys448=)
NM_001814.6(CTSC):c.1344_1345del (p.Ala449fs) rs771873680
NM_001814.6(CTSC):c.1345G>A (p.Ala449Thr)
NM_001814.6(CTSC):c.1346C>T (p.Ala449Val)
NM_001814.6(CTSC):c.1349T>C (p.Ile450Thr)
NM_001814.6(CTSC):c.134C>T (p.Ser45Phe)
NM_001814.6(CTSC):c.1351G>C (p.Glu451Gln)
NM_001814.6(CTSC):c.1377A>G (p.Pro459=)
NM_001814.6(CTSC):c.138C>T (p.Ser46=)
NM_001814.6(CTSC):c.1392G>A (p.Ter464=)
NM_001814.6(CTSC):c.140G>T (p.Gly47Val)
NM_001814.6(CTSC):c.144C>G (p.Ser48=)
NM_001814.6(CTSC):c.147G>A (p.Gln49=)
NM_001814.6(CTSC):c.15C>T (p.Pro5=)
NM_001814.6(CTSC):c.162C>T (p.Cys54=)
NM_001814.6(CTSC):c.165G>A (p.Ser55=)
NM_001814.6(CTSC):c.168T>G (p.Val56=)
NM_001814.6(CTSC):c.16T>G (p.Ser6Ala)
NM_001814.6(CTSC):c.172+10C>T
NM_001814.6(CTSC):c.172+11G>C
NM_001814.6(CTSC):c.172+13C>T
NM_001814.6(CTSC):c.172+15C>T
NM_001814.6(CTSC):c.172+19A>C
NM_001814.6(CTSC):c.172+8G>C
NM_001814.6(CTSC):c.172+8G>T
NM_001814.6(CTSC):c.173-10_173-7del
NM_001814.6(CTSC):c.173-11T>C
NM_001814.6(CTSC):c.173-15T>A
NM_001814.6(CTSC):c.173-15T>G
NM_001814.6(CTSC):c.173-19T>C
NM_001814.6(CTSC):c.173-19dup rs11326739
NM_001814.6(CTSC):c.173-2A>C
NM_001814.6(CTSC):c.173-6C>T
NM_001814.6(CTSC):c.173-6del rs372892181
NM_001814.6(CTSC):c.173-7T>G
NM_001814.6(CTSC):c.173-7del rs11326739
NM_001814.6(CTSC):c.173-8T>G
NM_001814.6(CTSC):c.173-8_173-7del
NM_001814.6(CTSC):c.174A>G (p.Gly58=)
NM_001814.6(CTSC):c.175C>A (p.Pro59Thr)
NM_001814.6(CTSC):c.176C>T (p.Pro59Leu)
NM_001814.6(CTSC):c.180A>G (p.Gln60=)
NM_001814.6(CTSC):c.189A>G (p.Lys63=)
NM_001814.6(CTSC):c.189del (p.Lys63_Val64insTer)
NM_001814.6(CTSC):c.189dup (p.Val64fs)
NM_001814.6(CTSC):c.18C>T (p.Ser6=)
NM_001814.6(CTSC):c.195G>A (p.Val65=)
NM_001814.6(CTSC):c.201C>A (p.Tyr67Ter)
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) rs199474831
NM_001814.6(CTSC):c.210G>A (p.Lys70=)
NM_001814.6(CTSC):c.213G>T (p.Leu71=)
NM_001814.6(CTSC):c.21G>A (p.Leu7=)
NM_001814.6(CTSC):c.21G>C (p.Leu7Phe)
NM_001814.6(CTSC):c.21G>T (p.Leu7Phe)
NM_001814.6(CTSC):c.21del (p.Leu7fs)
NM_001814.6(CTSC):c.222A>G (p.Ala74=)
NM_001814.6(CTSC):c.22C>T (p.Leu8=)
NM_001814.6(CTSC):c.233T>G (p.Leu78Arg)
NM_001814.6(CTSC):c.234T>C (p.Leu78=)
NM_001814.6(CTSC):c.237C>T (p.Gly79=)
NM_001814.6(CTSC):c.239A>G (p.Asn80Ser)
NM_001814.6(CTSC):c.243T>G (p.Ser81=)
NM_001814.6(CTSC):c.249T>C (p.His83=)
NM_001814.6(CTSC):c.252C>G (p.Phe84Leu)
NM_001814.6(CTSC):c.255C>T (p.Thr85=)
NM_001814.6(CTSC):c.268C>T (p.Gln90Ter)
NM_001814.6(CTSC):c.271G>C (p.Gly91Arg)
NM_001814.6(CTSC):c.273C>T (p.Gly91=)
NM_001814.6(CTSC):c.27C>T (p.Leu9=)
NM_001814.6(CTSC):c.288G>A (p.Leu96=)
NM_001814.6(CTSC):c.290A>G (p.Asn97Ser)
NM_001814.6(CTSC):c.295T>C (p.Tyr99His)
NM_001814.6(CTSC):c.296A>T (p.Tyr99Phe)
NM_001814.6(CTSC):c.299A>G (p.Lys100Arg)
NM_001814.6(CTSC):c.303G>A (p.Trp101Ter)
NM_001814.6(CTSC):c.308C>T (p.Ala103Val)
NM_001814.6(CTSC):c.312T>A (p.Phe104Leu)
NM_001814.6(CTSC):c.318+13G>T
NM_001814.6(CTSC):c.318+17G>T
NM_001814.6(CTSC):c.318+20G>T
NM_001814.6(CTSC):c.318+4_318+7del
NM_001814.6(CTSC):c.318+9T>C
NM_001814.6(CTSC):c.318+9dup
NM_001814.6(CTSC):c.319-10T>C
NM_001814.6(CTSC):c.319-11T>C
NM_001814.6(CTSC):c.319-17C>A
NM_001814.6(CTSC):c.319-17C>G
NM_001814.6(CTSC):c.319-17C>T
NM_001814.6(CTSC):c.319-18del
NM_001814.6(CTSC):c.319-19_319-13del
NM_001814.6(CTSC):c.319-1G>A
NM_001814.6(CTSC):c.319-20T>A
NM_001814.6(CTSC):c.319-4G>T
NM_001814.6(CTSC):c.319-5T>C
NM_001814.6(CTSC):c.328G>T (p.Glu110Ter)
NM_001814.6(CTSC):c.338A>G (p.Lys113Arg)
NM_001814.6(CTSC):c.340G>C (p.Val114Leu)
NM_001814.6(CTSC):c.344C>T (p.Thr115Ile)
NM_001814.6(CTSC):c.351C>G (p.Tyr117Ter)
NM_001814.6(CTSC):c.351C>T (p.Tyr117=)
NM_001814.6(CTSC):c.353G>A (p.Cys118Tyr)
NM_001814.6(CTSC):c.353G>T (p.Cys118Phe)
NM_001814.6(CTSC):c.357C>T (p.Asn119=)
NM_001814.6(CTSC):c.358G>A (p.Glu120Lys)
NM_001814.6(CTSC):c.363A>G (p.Thr121=)
NM_001814.6(CTSC):c.364A>G (p.Met122Val)
NM_001814.6(CTSC):c.369T>C (p.Thr123=)
NM_001814.6(CTSC):c.37C>A (p.Leu13Met)
NM_001814.6(CTSC):c.380A>C (p.His127Pro)
NM_001814.6(CTSC):c.386T>A (p.Val129Glu) rs760130711
NM_001814.6(CTSC):c.393C>T (p.Gly131=)
NM_001814.6(CTSC):c.401G>A (p.Trp134Ter)
NM_001814.6(CTSC):c.407del (p.Cys136fs)
NM_001814.6(CTSC):c.408T>C (p.Cys136=)
NM_001814.6(CTSC):c.40C>T (p.Leu14=)
NM_001814.6(CTSC):c.414C>A (p.Thr138=)
NM_001814.6(CTSC):c.414C>T (p.Thr138=)
NM_001814.6(CTSC):c.415G>A (p.Gly139Arg)
NM_001814.6(CTSC):c.415G>C (p.Gly139Arg)
NM_001814.6(CTSC):c.415G>T (p.Gly139Ter)
NM_001814.6(CTSC):c.427G>C (p.Gly143Arg)
NM_001814.6(CTSC):c.42G>C (p.Leu14=)
NM_001814.6(CTSC):c.432T>C (p.Thr144=)
NM_001814.6(CTSC):c.434C>G (p.Ala145Gly)
NM_001814.6(CTSC):c.436del (p.Ser146fs)
NM_001814.6(CTSC):c.43C>T (p.Leu15Phe)
NM_001814.6(CTSC):c.449A>G (p.Tyr150Cys)
NM_001814.6(CTSC):c.450T>C (p.Tyr150=)
NM_001814.6(CTSC):c.45del (p.Leu16fs)
NM_001814.6(CTSC):c.478C>T (p.Gln160Ter)
NM_001814.6(CTSC):c.480G>A (p.Gln160=)
NM_001814.6(CTSC):c.485+11A>G
NM_001814.6(CTSC):c.485+12C>T
NM_001814.6(CTSC):c.485+1G>A
NM_001814.6(CTSC):c.486-14A>C
NM_001814.6(CTSC):c.486-17C>T
NM_001814.6(CTSC):c.486-20T>C
NM_001814.6(CTSC):c.486-25_492del
NM_001814.6(CTSC):c.486-9T>G
NM_001814.6(CTSC):c.48C>G (p.Leu16=)
NM_001814.6(CTSC):c.48C>T (p.Leu16=)
NM_001814.6(CTSC):c.495T>C (p.Asn165=)
NM_001814.6(CTSC):c.4G>C (p.Gly2Arg)
NM_001814.6(CTSC):c.501C>T (p.Leu167=)
NM_001814.6(CTSC):c.505A>G (p.Lys169Glu)
NM_001814.6(CTSC):c.507G>A (p.Lys169=)
NM_001814.6(CTSC):c.509dup (p.Tyr170Ter)
NM_001814.6(CTSC):c.51C>T (p.Ser17=)
NM_001814.6(CTSC):c.522T>C (p.Phe174=)
NM_001814.6(CTSC):c.53G>A (p.Gly18Asp)
NM_001814.6(CTSC):c.540C>T (p.Ala180=)
NM_001814.6(CTSC):c.546G>A (p.Gln182=)
NM_001814.6(CTSC):c.550T>C (p.Ser184Pro)
NM_001814.6(CTSC):c.552T>G (p.Ser184=)
NM_001814.6(CTSC):c.555G>A (p.Trp185Ter)
NM_001814.6(CTSC):c.555dup (p.Thr186fs)
NM_001814.6(CTSC):c.562A>G (p.Thr188Ala)
NM_001814.6(CTSC):c.566C>T (p.Thr189Ile)
NM_001814.6(CTSC):c.566_572del (p.Thr189fs)
NM_001814.6(CTSC):c.570C>G (p.Tyr190Ter)
NM_001814.6(CTSC):c.574G>C (p.Glu192Gln)
NM_001814.6(CTSC):c.586_587del (p.Leu196fs)
NM_001814.6(CTSC):c.587T>C (p.Leu196Pro)
NM_001814.6(CTSC):c.591C>T (p.Thr197=)
NM_001814.6(CTSC):c.592C>T (p.Leu198=)
NM_001814.6(CTSC):c.593T>A (p.Leu198Gln)
NM_001814.6(CTSC):c.606dup (p.Arg203Ter)
NM_001814.6(CTSC):c.609G>A (p.Arg203=)
NM_001814.6(CTSC):c.60C>T (p.Gly20=)
NM_001814.6(CTSC):c.615T>G (p.Ser205Arg)
NM_001814.6(CTSC):c.625A>C (p.Ser209Arg)
NM_001814.6(CTSC):c.628C>T (p.Arg210Ter)
NM_001814.6(CTSC):c.629G>A (p.Arg210Gln)
NM_001814.6(CTSC):c.639A>G (p.Pro213=)
NM_001814.6(CTSC):c.63C>G (p.Ala21=)
NM_001814.6(CTSC):c.63C>T (p.Ala21=)
NM_001814.6(CTSC):c.641+10C>T
NM_001814.6(CTSC):c.641+12C>T
NM_001814.6(CTSC):c.641+19dup
NM_001814.6(CTSC):c.641+1G>A
NM_001814.6(CTSC):c.641+20A>C
NM_001814.6(CTSC):c.641+20A>G
NM_001814.6(CTSC):c.641+3A>G
NM_001814.6(CTSC):c.642-16T>C
NM_001814.6(CTSC):c.642-19A>G
NM_001814.6(CTSC):c.642-2A>G
NM_001814.6(CTSC):c.642-8C>G
NM_001814.6(CTSC):c.648A>G (p.Lys216=)
NM_001814.6(CTSC):c.648_649delinsCTGACTG (p.Lys216_Pro217delinsAsnTer)
NM_001814.6(CTSC):c.64G>T (p.Val22Leu)
NM_001814.6(CTSC):c.662CTG[1] (p.Ala222del)
NM_001814.6(CTSC):c.666T>C (p.Ala222=)
NM_001814.6(CTSC):c.672dup (p.Gln225fs)
NM_001814.6(CTSC):c.678A>G (p.Gln226=)
NM_001814.6(CTSC):c.693G>C (p.Leu231Phe)
NM_001814.6(CTSC):c.696A>G (p.Pro232=)
NM_001814.6(CTSC):c.706del (p.Asp236fs)
NM_001814.6(CTSC):c.711G>A (p.Trp237Ter)
NM_001814.6(CTSC):c.717T>C (p.Asn239=)
NM_001814.6(CTSC):c.719T>G (p.Val240Gly)
NM_001814.6(CTSC):c.71G>A (p.Cys24Tyr)
NM_001814.6(CTSC):c.725del (p.Gly242fs)
NM_001814.6(CTSC):c.729C>T (p.Ile243=) rs766063253
NM_001814.6(CTSC):c.745G>T (p.Val249Phe)
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)
NM_001814.6(CTSC):c.750A>C (p.Arg250=)
NM_001814.6(CTSC):c.754C>T (p.Gln252Ter)
NM_001814.6(CTSC):c.755A>T (p.Gln252Leu) rs104894207
NM_001814.6(CTSC):c.757+15C>T
NM_001814.6(CTSC):c.757+17A>G
NM_001814.6(CTSC):c.757+1G>T
NM_001814.6(CTSC):c.757+3A>G
NM_001814.6(CTSC):c.757+5A>G
NM_001814.6(CTSC):c.757+6A>T rs886048741
NM_001814.6(CTSC):c.757+9dup
NM_001814.6(CTSC):c.757G>A (p.Ala253Thr)
NM_001814.6(CTSC):c.758-16T>A
NM_001814.6(CTSC):c.758-16T>C
NM_001814.6(CTSC):c.758-16T>G
NM_001814.6(CTSC):c.758-16dup
NM_001814.6(CTSC):c.758-17C>T
NM_001814.6(CTSC):c.758-17_758-16del
NM_001814.6(CTSC):c.758-19G>A
NM_001814.6(CTSC):c.758-20T>C
NM_001814.6(CTSC):c.758-20T>G
NM_001814.6(CTSC):c.758-5G>A
NM_001814.6(CTSC):c.758-5G>T
NM_001814.6(CTSC):c.758-6C>T
NM_001814.6(CTSC):c.758-7T>A
NM_001814.6(CTSC):c.762C>G (p.Ser254=)
NM_001814.6(CTSC):c.769A>G (p.Ser257Gly)
NM_001814.6(CTSC):c.783del (p.Phe261fs)
NM_001814.6(CTSC):c.789T>C (p.Ser263=)
NM_001814.6(CTSC):c.790A>C (p.Met264Leu)
NM_001814.6(CTSC):c.790A>G (p.Met264Val)
NM_001814.6(CTSC):c.796A>G (p.Met266Val)
NM_001814.6(CTSC):c.806C>T (p.Ala269Val)
NM_001814.6(CTSC):c.807G>A (p.Ala269=)
NM_001814.6(CTSC):c.814C>A (p.Arg272Ser)
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) rs587777534
NM_001814.6(CTSC):c.830A>G (p.Asn277Ser)
NM_001814.6(CTSC):c.839C>T (p.Thr280Ile)
NM_001814.6(CTSC):c.844A>G (p.Ile282Val)
NM_001814.6(CTSC):c.848T>C (p.Leu283Pro)
NM_001814.6(CTSC):c.84C>G (p.Ala28=)
NM_001814.6(CTSC):c.850A>G (p.Ser284Gly) rs886048740
NM_001814.6(CTSC):c.855dup (p.Gln286fs)
NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)
NM_001814.6(CTSC):c.857del (p.Gln286fs)
NM_001814.6(CTSC):c.872G>C (p.Cys291Ser)
NM_001814.6(CTSC):c.873T>C (p.Cys291=)
NM_001814.6(CTSC):c.877C>T (p.Gln293Ter)
NM_001814.6(CTSC):c.87C>T (p.Asn29=)
NM_001814.6(CTSC):c.881A>G (p.Tyr294Cys)
NM_001814.6(CTSC):c.882T>C (p.Tyr294=)
NM_001814.6(CTSC):c.889+13T>C
NM_001814.6(CTSC):c.889+18G>C
NM_001814.6(CTSC):c.889+19A>G
NM_001814.6(CTSC):c.889+1G>A
NM_001814.6(CTSC):c.889+9T>A
NM_001814.6(CTSC):c.889+9T>C
NM_001814.6(CTSC):c.890-13T>A
NM_001814.6(CTSC):c.890-18T>C
NM_001814.6(CTSC):c.890-20T>C
NM_001814.6(CTSC):c.890-5T>C
NM_001814.6(CTSC):c.890-6C>T
NM_001814.6(CTSC):c.890G>T (p.Gly297Val)
NM_001814.6(CTSC):c.891C>T (p.Gly297=)
NM_001814.6(CTSC):c.893G>A (p.Cys298Tyr)
NM_001814.6(CTSC):c.897A>G (p.Glu299=)
NM_001814.6(CTSC):c.900C>T (p.Gly300=)
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)
NM_001814.6(CTSC):c.907C>T (p.Pro303Ser)
NM_001814.6(CTSC):c.908C>T (p.Pro303Leu)
NM_001814.6(CTSC):c.90C>A (p.Cys30Ter)
NM_001814.6(CTSC):c.910T>A (p.Tyr304Asn)
NM_001814.6(CTSC):c.917T>C (p.Ile306Thr)
NM_001814.6(CTSC):c.919G>A (p.Ala307Thr)
NM_001814.6(CTSC):c.921A>G (p.Ala307=)
NM_001814.6(CTSC):c.923G>A (p.Gly308Glu)
NM_001814.6(CTSC):c.927G>A (p.Lys309=)
NM_001814.6(CTSC):c.930C>G (p.Tyr310Ter)
NM_001814.6(CTSC):c.931G>A (p.Ala311Thr)
NM_001814.6(CTSC):c.936A>G (p.Gln312=)
NM_001814.6(CTSC):c.942T>C (p.Phe314=)
NM_001814.6(CTSC):c.946C>G (p.Leu316Val)
NM_001814.6(CTSC):c.948G>A (p.Leu316=)
NM_001814.6(CTSC):c.94T>C (p.Tyr32His)
NM_001814.6(CTSC):c.950T>G (p.Val317Gly)
NM_001814.6(CTSC):c.952G>A (p.Glu318Lys)
NM_001814.6(CTSC):c.953A>G (p.Glu318Gly)
NM_001814.6(CTSC):c.954A>G (p.Glu318=) rs886048739
NM_001814.6(CTSC):c.95A>G (p.Tyr32Cys)
NM_001814.6(CTSC):c.967C>T (p.Pro323Ser)
NM_001814.6(CTSC):c.969C>G (p.Pro323=)
NM_001814.6(CTSC):c.969C>T (p.Pro323=)
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)
NM_001814.6(CTSC):c.975A>G (p.Thr325=)
NM_001814.6(CTSC):c.978C>T (p.Gly326=)
NM_001814.6(CTSC):c.979A>C (p.Thr327Pro)
NM_001814.6(CTSC):c.981T>A (p.Thr327=)
NM_001814.6(CTSC):c.981T>G (p.Thr327=)
NM_001814.6(CTSC):c.996A>G (p.Lys332=)
NM_001814.6(CTSC):c.998T>C (p.Met333Thr)

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