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.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.319-15C>T
|
rs45539936
|
0.00539
|
NM_001814.6(CTSC):c.1146C>T (p.His382=)
|
rs45558734
|
0.00199
|
NM_001814.6(CTSC):c.1314C>T (p.Tyr438=)
|
rs143736590
|
0.00053
|
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.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.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.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.-55C>A
|
|
|
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.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.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.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.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.1335TGA[1] (p.Asp446del)
|
|
|
NM_001814.6(CTSC):c.1338T>C (p.Asp446=)
|
|
|
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+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>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.173-7T>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.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>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.37C>A (p.Leu13Met)
|
|
|
NM_001814.6(CTSC):c.380A>C (p.His127Pro)
|
|
|
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.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>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.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.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.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.642-2A>G
|
|
|
NM_001814.6(CTSC):c.642-8C>G
|
|
|
NM_001814.6(CTSC):c.648A>G (p.Lys216=)
|
|
|
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.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.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.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+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.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.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+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.969C>G (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)
|
|
|