NM_001814.6(CTSC):c.319-15C>T
|
rs45539936
|
0.00539
|
NM_001814.6(CTSC):c.1314C>T (p.Tyr438=)
|
rs143736590
|
0.00053
|
NM_001814.5(CTSC):c.-80G>C
|
rs758293258
|
0.00028
|
NM_001814.6(CTSC):c.259A>G (p.Ile87Val)
|
rs45447392
|
0.00019
|
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.1201G>A (p.Glu401Lys)
|
rs200627023
|
0.00009
|
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.395G>A (p.Arg132Gln)
|
rs575727793
|
0.00004
|
NM_001814.6(CTSC):c.815G>A (p.Arg272His)
|
rs587777534
|
0.00003
|
NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr)
|
rs748729285
|
0.00002
|
NM_001814.6(CTSC):c.1097A>T (p.His366Leu)
|
rs751798574
|
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
|
NC_000011.10:g.(?_88293986)_(88337727_?)dup
|
|
|
NC_000011.9:g.(?_88027174)_(88029452_?)dup
|
|
|
NM_001814.6(CTSC):c.*350A>G
|
rs1944265493
|
|
NM_001814.6(CTSC):c.*414A>G
|
rs953848453
|
|
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.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.1055A>G (p.Tyr352Cys)
|
|
|
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.1094T>C (p.Val365Ala)
|
rs1197515579
|
|
NM_001814.6(CTSC):c.1121T>C (p.Phe374Ser)
|
|
|
NM_001814.6(CTSC):c.1123G>A (p.Glu375Lys)
|
rs886048738
|
|
NM_001814.6(CTSC):c.1145A>G (p.His382Arg)
|
|
|
NM_001814.6(CTSC):c.1159A>T (p.Ile387Phe)
|
|
|
NM_001814.6(CTSC):c.1160T>C (p.Ile387Thr)
|
|
|
NM_001814.6(CTSC):c.1165C>T (p.His389Tyr)
|
|
|
NM_001814.6(CTSC):c.1169A>G (p.His390Arg)
|
|
|
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.1222C>A (p.Leu408Met)
|
|
|
NM_001814.6(CTSC):c.1225C>G (p.Leu409Val)
|
|
|
NM_001814.6(CTSC):c.1276_1288A[5]CAGCTGGGCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAACCGCTGGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACAGCTGGG[1] (p.Trp429_Gly430insAlaAlaValArgProGlyArgGlnSerGluThrProSerGlnLysLysLysLysLysLysLysLysLysAsnArgTrpGlyXaaXaaXaaXaaLysLysLysLysLysLysLysAsnSerTrp)
|
|
|
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.1325G>A (p.Arg442His)
|
|
|
NM_001814.6(CTSC):c.1335TGA[1] (p.Asp446del)
|
|
|
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.1351G>C (p.Glu451Gln)
|
|
|
NM_001814.6(CTSC):c.173-19dup
|
rs11326739
|
|
NM_001814.6(CTSC):c.173-6del
|
rs372892181
|
|
NM_001814.6(CTSC):c.175C>A (p.Pro59Thr)
|
|
|
NM_001814.6(CTSC):c.176C>T (p.Pro59Leu)
|
|
|
NM_001814.6(CTSC):c.233T>G (p.Leu78Arg)
|
|
|
NM_001814.6(CTSC):c.239A>G (p.Asn80Ser)
|
|
|
NM_001814.6(CTSC):c.252C>G (p.Phe84Leu)
|
|
|
NM_001814.6(CTSC):c.271G>C (p.Gly91Arg)
|
|
|
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.308C>T (p.Ala103Val)
|
|
|
NM_001814.6(CTSC):c.312T>A (p.Phe104Leu)
|
|
|
NM_001814.6(CTSC):c.318+4_318+7del
|
|
|
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.353G>A (p.Cys118Tyr)
|
|
|
NM_001814.6(CTSC):c.353G>T (p.Cys118Phe)
|
|
|
NM_001814.6(CTSC):c.358G>A (p.Glu120Lys)
|
|
|
NM_001814.6(CTSC):c.364A>G (p.Met122Val)
|
|
|
NM_001814.6(CTSC):c.380A>C (p.His127Pro)
|
|
|
NM_001814.6(CTSC):c.386T>A (p.Val129Glu)
|
rs760130711
|
|
NM_001814.6(CTSC):c.427G>C (p.Gly143Arg)
|
|
|
NM_001814.6(CTSC):c.434C>G (p.Ala145Gly)
|
|
|
NM_001814.6(CTSC):c.449A>G (p.Tyr150Cys)
|
|
|
NM_001814.6(CTSC):c.505A>G (p.Lys169Glu)
|
|
|
NM_001814.6(CTSC):c.550T>C (p.Ser184Pro)
|
|
|
NM_001814.6(CTSC):c.562A>G (p.Thr188Ala)
|
|
|
NM_001814.6(CTSC):c.566C>T (p.Thr189Ile)
|
|
|
NM_001814.6(CTSC):c.574G>C (p.Glu192Gln)
|
|
|
NM_001814.6(CTSC):c.593T>A (p.Leu198Gln)
|
|
|
NM_001814.6(CTSC):c.615T>G (p.Ser205Arg)
|
|
|
NM_001814.6(CTSC):c.625A>C (p.Ser209Arg)
|
|
|
NM_001814.6(CTSC):c.629G>A (p.Arg210Gln)
|
|
|
NM_001814.6(CTSC):c.641+3A>G
|
|
|
NM_001814.6(CTSC):c.662CTG[1] (p.Ala222del)
|
|
|
NM_001814.6(CTSC):c.693G>C (p.Leu231Phe)
|
|
|
NM_001814.6(CTSC):c.719T>G (p.Val240Gly)
|
|
|
NM_001814.6(CTSC):c.729C>T (p.Ile243=)
|
rs766063253
|
|
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.757G>A (p.Ala253Thr)
|
|
|
NM_001814.6(CTSC):c.758-16T>G
|
|
|
NM_001814.6(CTSC):c.758-7T>A
|
|
|
NM_001814.6(CTSC):c.769A>G (p.Ser257Gly)
|
|
|
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.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.850A>G (p.Ser284Gly)
|
rs886048740
|
|
NM_001814.6(CTSC):c.872G>C (p.Cys291Ser)
|
|
|
NM_001814.6(CTSC):c.881A>G (p.Tyr294Cys)
|
|
|
NM_001814.6(CTSC):c.890G>T (p.Gly297Val)
|
|
|
NM_001814.6(CTSC):c.893G>A (p.Cys298Tyr)
|
|
|
NM_001814.6(CTSC):c.899G>A (p.Gly300Asp)
|
|
|
NM_001814.6(CTSC):c.907C>T (p.Pro303Ser)
|
|
|
NM_001814.6(CTSC):c.908C>T (p.Pro303Leu)
|
|
|
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.931G>A (p.Ala311Thr)
|
|
|
NM_001814.6(CTSC):c.946C>G (p.Leu316Val)
|
|
|
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.979A>C (p.Thr327Pro)
|
|
|
NM_001814.6(CTSC):c.998T>C (p.Met333Thr)
|
|
|