|
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=)
|
rs4935
|
0.62369
|
|
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=)
|
rs4797
|
0.53290
|
|
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=)
|
rs56092424
|
0.03763
|
|
NM_003900.5(SQSTM1):c.1044G>A (p.Pro348=)
|
rs10058037
|
0.03284
|
|
NM_003900.5(SQSTM1):c.906C>T (p.Gly302=)
|
rs11548642
|
0.01636
|
|
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp)
|
rs55793208
|
0.01529
|
|
NM_003900.5(SQSTM1):c.955G>A (p.Glu319Lys)
|
rs61748794
|
0.01418
|
|
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys)
|
rs140226523
|
0.00943
|
|
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)
|
rs146164139
|
0.00374
|
|
NM_003900.5(SQSTM1):c.755-90dup
|
rs145727617
|
0.00280
|
|
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=)
|
rs141436407
|
0.00230
|
|
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu)
|
rs11548633
|
0.00229
|
|
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)
|
rs143956614
|
0.00222
|
|
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
|
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)
|
rs147810437
|
0.00126
|
|
NM_003900.5(SQSTM1):c.888G>A (p.Pro296=)
|
rs148984239
|
0.00073
|
|
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=)
|
rs139482113
|
0.00063
|
|
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=)
|
rs148278350
|
0.00057
|
|
NM_003900.5(SQSTM1):c.969+20G>A
|
rs199696608
|
0.00054
|
|
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)
|
rs200396166
|
0.00054
|
|
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=)
|
rs75700262
|
0.00052
|
|
NM_003900.5(SQSTM1):c.372C>T (p.Pro124=)
|
rs11548640
|
0.00046
|
|
NM_003900.5(SQSTM1):c.1278G>A (p.Ala426=)
|
rs143977783
|
0.00036
|
|
NM_003900.5(SQSTM1):c.328C>T (p.Arg110Cys)
|
rs139372286
|
0.00034
|
|
NM_003900.5(SQSTM1):c.783C>T (p.His261=)
|
rs145001811
|
0.00034
|
|
NM_003900.5(SQSTM1):c.946T>C (p.Leu316=)
|
rs140315612
|
0.00030
|
|
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile)
|
rs145056421
|
0.00029
|
|
NM_003900.5(SQSTM1):c.819A>G (p.Pro273=)
|
rs200388590
|
0.00026
|
|
NM_003900.5(SQSTM1):c.908C>T (p.Ala303Val)
|
rs143746604
|
0.00026
|
|
NM_003900.5(SQSTM1):c.674-17C>T
|
rs372845160
|
0.00023
|
|
NM_003900.5(SQSTM1):c.1201A>C (p.Met401Leu)
|
rs201795943
|
0.00021
|
|
NM_003900.5(SQSTM1):c.513C>G (p.Pro171=)
|
rs199931327
|
0.00019
|
|
NM_003900.5(SQSTM1):c.1038G>A (p.Val346=)
|
rs150470670
|
0.00018
|
|
NM_003900.5(SQSTM1):c.934A>G (p.Arg312Gly)
|
rs545080321
|
0.00018
|
|
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser)
|
rs200152247
|
0.00015
|
|
NM_003900.5(SQSTM1):c.214G>A (p.Gly72Arg)
|
rs376802604
|
0.00014
|
|
NM_003900.5(SQSTM1):c.1277C>T (p.Ala426Val)
|
rs201239306
|
0.00012
|
|
NM_003900.5(SQSTM1):c.912G>A (p.Thr304=)
|
rs370970067
|
0.00012
|
|
NM_003900.5(SQSTM1):c.1272C>T (p.Ile424=)
|
rs374985304
|
0.00011
|
|
NM_003900.5(SQSTM1):c.1083C>T (p.Ser361=)
|
rs201591177
|
0.00010
|
|
NM_003900.5(SQSTM1):c.755-8G>A
|
rs369581639
|
0.00010
|
|
NM_003900.5(SQSTM1):c.85C>T (p.Pro29Ser)
|
rs752506754
|
0.00010
|
|
NM_003900.5(SQSTM1):c.351G>A (p.Ala117=)
|
rs376214713
|
0.00009
|
|
NM_003900.5(SQSTM1):c.824G>A (p.Ser275Asn)
|
rs201923000
|
0.00009
|
|
NM_003900.5(SQSTM1):c.332C>T (p.Pro111Leu)
|
rs371719657
|
0.00008
|
|
NM_003900.5(SQSTM1):c.800G>A (p.Arg267His)
|
rs149424705
|
0.00007
|
|
NM_003900.5(SQSTM1):c.1088G>A (p.Gly363Glu)
|
rs375495050
|
0.00006
|
|
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)
|
rs143511494
|
0.00006
|
|
NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu)
|
rs199854262
|
0.00006
|
|
NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser)
|
rs769325755
|
0.00006
|
|
NM_003900.5(SQSTM1):c.378G>A (p.Val126=)
|
rs774780830
|
0.00006
|
|
NM_003900.5(SQSTM1):c.53G>A (p.Arg18His)
|
rs902195752
|
0.00006
|
|
NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys)
|
rs1478180381
|
0.00006
|
|
NM_003900.5(SQSTM1):c.696G>A (p.Pro232=)
|
rs145688323
|
0.00006
|
|
NM_003900.5(SQSTM1):c.811G>A (p.Val271Ile)
|
rs376283809
|
0.00006
|
|
NM_003900.5(SQSTM1):c.962G>A (p.Arg321His)
|
rs752889531
|
0.00006
|
|
NM_003900.5(SQSTM1):c.1165+9A>G
|
rs138885571
|
0.00005
|
|
NM_003900.5(SQSTM1):c.295A>C (p.Ile99Leu)
|
rs537142935
|
0.00005
|
|
NM_003900.5(SQSTM1):c.673+10G>C
|
rs753023157
|
0.00005
|
|
NM_003900.5(SQSTM1):c.683C>T (p.Pro228Leu)
|
rs151191977
|
0.00005
|
|
NM_003900.5(SQSTM1):c.901G>C (p.Glu301Gln)
|
rs1258386028
|
0.00005
|
|
NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly)
|
rs148294622
|
0.00005
|
|
NM_003900.5(SQSTM1):c.1178G>A (p.Arg393Gln)
|
rs200551825
|
0.00004
|
|
NM_003900.5(SQSTM1):c.122C>T (p.Pro41Leu)
|
rs745356508
|
0.00004
|
|
NM_003900.5(SQSTM1):c.1314G>A (p.Pro438=)
|
rs182058393
|
0.00004
|
|
NM_003900.5(SQSTM1):c.251C>T (p.Thr84Ile)
|
rs539682696
|
0.00004
|
|
NM_003900.5(SQSTM1):c.399G>C (p.Gly133=)
|
rs768110162
|
0.00004
|
|
NM_003900.5(SQSTM1):c.456C>T (p.Ser152=)
|
rs145037913
|
0.00004
|
|
NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val)
|
rs141502868
|
0.00004
|
|
NM_003900.5(SQSTM1):c.540G>A (p.Ser180=)
|
rs370203737
|
0.00004
|
|
NM_003900.5(SQSTM1):c.548G>A (p.Arg183His)
|
rs535606152
|
0.00004
|
|
NM_003900.5(SQSTM1):c.570C>T (p.His190=)
|
rs758110159
|
0.00004
|
|
NM_003900.5(SQSTM1):c.650G>A (p.Arg217His)
|
rs761822261
|
0.00004
|
|
NM_003900.5(SQSTM1):c.674C>T (p.Ala225Val)
|
rs202235745
|
0.00004
|
|
NM_003900.5(SQSTM1):c.687G>A (p.Ser229=)
|
rs140341924
|
0.00004
|
|
NM_003900.5(SQSTM1):c.719T>C (p.Val240Ala)
|
rs142719499
|
0.00004
|
|
NM_003900.5(SQSTM1):c.789G>A (p.Gly263=)
|
rs200889080
|
0.00004
|
|
NM_003900.5(SQSTM1):c.911C>T (p.Thr304Met)
|
rs150926394
|
0.00004
|
|
NM_003900.5(SQSTM1):c.942C>T (p.Ile314=)
|
rs200695664
|
0.00004
|
|
NM_003900.5(SQSTM1):c.1104C>T (p.Asp368=)
|
rs750140541
|
0.00003
|
|
NM_003900.5(SQSTM1):c.1166-5G>A
|
rs765613974
|
0.00003
|
|
NM_003900.5(SQSTM1):c.1313C>T (p.Pro438Leu)
|
rs759646319
|
0.00003
|
|
NM_003900.5(SQSTM1):c.301+12C>G
|
rs141530539
|
0.00003
|
|
NM_003900.5(SQSTM1):c.335C>T (p.Pro112Leu)
|
rs761423892
|
0.00003
|
|
NM_003900.5(SQSTM1):c.416G>A (p.Arg139His)
|
rs758090054
|
0.00003
|
|
NM_003900.5(SQSTM1):c.430G>A (p.Val144Ile)
|
rs200973006
|
0.00003
|
|
NM_003900.5(SQSTM1):c.498C>T (p.Leu166=)
|
rs372518286
|
0.00003
|
|
NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg)
|
rs781478225
|
0.00003
|
|
NM_003900.5(SQSTM1):c.755-10C>T
|
rs763522925
|
0.00003
|
|
NM_003900.5(SQSTM1):c.772G>A (p.Asp258Asn)
|
rs774986849
|
0.00003
|
|
NM_003900.5(SQSTM1):c.799C>T (p.Arg267Cys)
|
rs138928957
|
0.00003
|
|
NM_003900.5(SQSTM1):c.1043C>T (p.Pro348Leu)
|
rs772889843
|
0.00002
|
|
NM_003900.5(SQSTM1):c.106G>A (p.Glu36Lys)
|
rs376158712
|
0.00002
|
|
NM_003900.5(SQSTM1):c.1142C>T (p.Ala381Val)
|
rs772122047
|
0.00002
|
|
NM_003900.5(SQSTM1):c.1165+15A>T
|
rs764410841
|
0.00002
|
|
NM_003900.5(SQSTM1):c.1166-1G>A
|
rs529512338
|
0.00002
|
|
NM_003900.5(SQSTM1):c.1177C>T (p.Arg393Trp)
|
rs539942101
|
0.00002
|
|
NM_003900.5(SQSTM1):c.1206G>A (p.Leu402=)
|
rs745585269
|
0.00002
|
|
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)
|
rs757212984
|
0.00002
|
|
NM_003900.5(SQSTM1):c.1A>G (p.Met1Val)
|
rs1302810798
|
0.00002
|
|
NM_003900.5(SQSTM1):c.216G>C (p.Gly72=)
|
rs757587948
|
0.00002
|
|
NM_003900.5(SQSTM1):c.234C>T (p.Ser78=)
|
rs746426826
|
0.00002
|
|
NM_003900.5(SQSTM1):c.263C>T (p.Ser88Phe)
|
rs763040103
|
0.00002
|
|
NM_003900.5(SQSTM1):c.268G>A (p.Val90Met)
|
rs181263868
|
0.00002
|
|
NM_003900.5(SQSTM1):c.280A>G (p.Ile94Val)
|
rs755702835
|
0.00002
|
|
NM_003900.5(SQSTM1):c.308A>G (p.Lys103Arg)
|
rs748170760
|
0.00002
|
|
NM_003900.5(SQSTM1):c.355C>T (p.Arg119Cys)
|
rs548787835
|
0.00002
|
|
NM_003900.5(SQSTM1):c.415C>T (p.Arg139Cys)
|
rs750256905
|
0.00002
|
|
NM_003900.5(SQSTM1):c.481C>T (p.Arg161Trp)
|
rs758625124
|
0.00002
|
|
NM_003900.5(SQSTM1):c.532-19C>T
|
rs368559255
|
0.00002
|
|
NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys)
|
rs567433223
|
0.00002
|
|
NM_003900.5(SQSTM1):c.562G>A (p.Val188Met)
|
rs371832577
|
0.00002
|
|
NM_003900.5(SQSTM1):c.632C>G (p.Pro211Arg)
|
rs368010261
|
0.00002
|
|
NM_003900.5(SQSTM1):c.717C>T (p.Asn239=)
|
rs747314158
|
0.00002
|
|
NM_003900.5(SQSTM1):c.727A>T (p.Ser243Cys)
|
rs769873457
|
0.00002
|
|
NM_003900.5(SQSTM1):c.734C>T (p.Ala245Val)
|
rs762767720
|
0.00002
|
|
NM_003900.5(SQSTM1):c.756C>T (p.Gly252=)
|
rs769297000
|
0.00002
|
|
NM_003900.5(SQSTM1):c.805A>C (p.Thr269Pro)
|
rs745853858
|
0.00002
|
|
NM_003900.5(SQSTM1):c.808C>T (p.Pro270Ser)
|
rs1194274800
|
0.00002
|
|
NM_003900.5(SQSTM1):c.847A>G (p.Ser283Gly)
|
rs148559402
|
0.00002
|
|
NM_003900.5(SQSTM1):c.887C>T (p.Pro296Leu)
|
rs376459756
|
0.00002
|
|
NM_003900.5(SQSTM1):c.907G>A (p.Ala303Thr)
|
rs1367793899
|
0.00002
|
|
NM_003900.5(SQSTM1):c.943G>A (p.Ala315Thr)
|
rs777431896
|
0.00002
|
|
NM_003900.5(SQSTM1):c.959G>A (p.Gly320Glu)
|
rs747589104
|
0.00002
|
|
NM_003900.5(SQSTM1):c.969+19C>T
|
rs566253151
|
0.00002
|
|
NM_003900.5(SQSTM1):c.1032A>G (p.Lys344=)
|
rs982817243
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1037T>C (p.Val346Ala)
|
rs1250501488
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1052G>C (p.Gly351Ala)
|
rs1355424687
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1060_1061del (p.Gln354fs)
|
rs781417955
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1077A>G (p.Pro359=)
|
rs771948860
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1084G>A (p.Glu362Lys)
|
rs535932454
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1090C>T (p.Pro364Ser)
|
rs776303544
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1122C>T (p.Pro374=)
|
rs778199086
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1139C>T (p.Ala380Val)
|
rs1447276382
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu)
|
rs776749939
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1165+1G>A
|
rs796051870
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1165G>C (p.Glu389Gln)
|
rs1391182750
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1166-6C>T
|
rs762322293
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val)
|
rs771966860
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1230C>T (p.Gly410=)
|
rs766437927
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1265A>G (p.Tyr422Cys)
|
rs1471403162
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1284G>T (p.Leu428=)
|
rs573881131
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1315C>A (p.Pro439Thr)
|
rs752910741
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1322G>A (p.Ter441=)
|
rs987821927
|
0.00001
|
|
NM_003900.5(SQSTM1):c.213C>T (p.Asp71=)
|
rs780842511
|
0.00001
|
|
NM_003900.5(SQSTM1):c.222G>A (p.Leu74=)
|
rs371268375
|
0.00001
|
|
NM_003900.5(SQSTM1):c.240C>T (p.Asp80=)
|
rs148366738
|
0.00001
|
|
NM_003900.5(SQSTM1):c.241G>A (p.Glu81Lys)
|
rs368853286
|
0.00001
|
|
NM_003900.5(SQSTM1):c.256G>C (p.Ala86Pro)
|
rs1208284061
|
0.00001
|
|
NM_003900.5(SQSTM1):c.265T>C (p.Tyr89His)
|
rs766411872
|
0.00001
|
|
NM_003900.5(SQSTM1):c.267C>T (p.Tyr89=)
|
rs150883783
|
0.00001
|
|
NM_003900.5(SQSTM1):c.26A>G (p.Tyr9Cys)
|
rs1295820640
|
0.00001
|
|
NM_003900.5(SQSTM1):c.274G>A (p.Asp92Asn)
|
rs1181188986
|
0.00001
|
|
NM_003900.5(SQSTM1):c.275A>G (p.Asp92Gly)
|
rs752438818
|
0.00001
|
|
NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter)
|
rs886039782
|
0.00001
|
|
NM_003900.5(SQSTM1):c.293A>G (p.Tyr98Cys)
|
rs750784335
|
0.00001
|
|
NM_003900.5(SQSTM1):c.302-5T>C
|
rs199527061
|
0.00001
|
|
NM_003900.5(SQSTM1):c.315C>T (p.Cys105=)
|
rs770804860
|
0.00001
|
|
NM_003900.5(SQSTM1):c.317G>A (p.Arg106Gln)
|
rs778554903
|
0.00001
|
|
NM_003900.5(SQSTM1):c.319C>T (p.Arg107Trp)
|
rs771903158
|
0.00001
|
|
NM_003900.5(SQSTM1):c.321G>A (p.Arg107=)
|
rs1378204039
|
0.00001
|
|
NM_003900.5(SQSTM1):c.33G>C (p.Leu11=)
|
rs1476097073
|
0.00001
|
|
NM_003900.5(SQSTM1):c.361A>G (p.Met121Val)
|
rs1209470881
|
0.00001
|
|
NM_003900.5(SQSTM1):c.384C>T (p.Cys128=)
|
rs768088721
|
0.00001
|
|
NM_003900.5(SQSTM1):c.385G>A (p.Asp129Asn)
|
rs753212399
|
0.00001
|
|
NM_003900.5(SQSTM1):c.39G>A (p.Lys13=)
|
rs1007964808
|
0.00001
|
|
NM_003900.5(SQSTM1):c.3G>A (p.Met1Ile)
|
rs1309887153
|
0.00001
|
|
NM_003900.5(SQSTM1):c.429C>A (p.Ser143Arg)
|
rs374417389
|
0.00001
|
|
NM_003900.5(SQSTM1):c.431T>A (p.Val144Asp)
|
rs1442832120
|
0.00001
|
|
NM_003900.5(SQSTM1):c.444C>T (p.Tyr148=)
|
rs769497182
|
0.00001
|
|
NM_003900.5(SQSTM1):c.508A>G (p.Ser170Gly)
|
rs377198490
|
0.00001
|
|
NM_003900.5(SQSTM1):c.516C>T (p.Phe172=)
|
rs1387392776
|
0.00001
|
|
NM_003900.5(SQSTM1):c.517G>A (p.Gly173Arg)
|
rs200731802
|
0.00001
|
|
NM_003900.5(SQSTM1):c.531+15T>C
|
rs1280173893
|
0.00001
|
|
NM_003900.5(SQSTM1):c.532-14A>G
|
rs748661765
|
0.00001
|
|
NM_003900.5(SQSTM1):c.532-7C>T
|
rs770329828
|
0.00001
|
|
NM_003900.5(SQSTM1):c.546C>T (p.Ser182=)
|
rs759721454
|
0.00001
|
|
NM_003900.5(SQSTM1):c.557G>A (p.Arg186Gln)
|
rs778537429
|
0.00001
|
|
NM_003900.5(SQSTM1):c.612A>G (p.Gly204=)
|
rs878982215
|
0.00001
|
|
NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys)
|
rs867275286
|
0.00001
|
|
NM_003900.5(SQSTM1):c.663G>A (p.Thr221=)
|
rs758128093
|
0.00001
|
|
NM_003900.5(SQSTM1):c.674-7A>C
|
rs776278684
|
0.00001
|
|
NM_003900.5(SQSTM1):c.686C>T (p.Ser229Leu)
|
rs1397353855
|
0.00001
|
|
NM_003900.5(SQSTM1):c.695C>T (p.Pro232Leu)
|
rs757778292
|
0.00001
|
|
NM_003900.5(SQSTM1):c.723G>C (p.Gly241=)
|
rs889431769
|
0.00001
|
|
NM_003900.5(SQSTM1):c.728G>A (p.Ser243Asn)
|
rs1325278483
|
0.00001
|
|
NM_003900.5(SQSTM1):c.72C>T (p.Ser24=)
|
rs774460525
|
0.00001
|
|
NM_003900.5(SQSTM1):c.73T>C (p.Phe25Leu)
|
rs1353365075
|
0.00001
|
|
NM_003900.5(SQSTM1):c.755-7C>T
|
rs781389243
|
0.00001
|
|
NM_003900.5(SQSTM1):c.755-9C>T
|
rs759140266
|
0.00001
|
|
NM_003900.5(SQSTM1):c.763G>C (p.Val255Leu)
|
rs182522590
|
0.00001
|
|
NM_003900.5(SQSTM1):c.769A>G (p.Ile257Val)
|
rs778679611
|
0.00001
|
|
NM_003900.5(SQSTM1):c.770T>C (p.Ile257Thr)
|
rs745788957
|
0.00001
|
|
NM_003900.5(SQSTM1):c.784G>A (p.Gly262Arg)
|
rs763179729
|
0.00001
|
|
NM_003900.5(SQSTM1):c.802C>G (p.Leu268Val)
|
rs753685955
|
0.00001
|
|
NM_003900.5(SQSTM1):c.806C>T (p.Thr269Ile)
|
rs185313167
|
0.00001
|
|
NM_003900.5(SQSTM1):c.807C>G (p.Thr269=)
|
rs779544030
|
0.00001
|
|
NM_003900.5(SQSTM1):c.810C>T (p.Pro270=)
|
rs1280918343
|
0.00001
|
|
NM_003900.5(SQSTM1):c.866G>A (p.Cys289Tyr)
|
rs757493001
|
0.00001
|
|
NM_003900.5(SQSTM1):c.87C>G (p.Pro29=)
|
rs755859379
|
0.00001
|
|
NM_003900.5(SQSTM1):c.914A>G (p.Gln305Arg)
|
rs1428718517
|
0.00001
|
|
NM_003900.5(SQSTM1):c.923C>T (p.Ala308Val)
|
rs541356917
|
0.00001
|
|
NM_003900.5(SQSTM1):c.927G>A (p.Glu309=)
|
rs766129922
|
0.00001
|
|
NM_003900.5(SQSTM1):c.938A>G (p.Lys313Arg)
|
rs1460912506
|
0.00001
|
|
NM_003900.5(SQSTM1):c.964C>T (p.Pro322Ser)
|
rs1225559170
|
0.00001
|
|
NM_003900.5(SQSTM1):c.970-14G>A
|
rs761682844
|
0.00001
|
|
NM_003900.5(SQSTM1):c.97G>T (p.Ala33Ser)
|
rs1156716975
|
0.00001
|
|
NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter)
|
rs1185406298
|
0.00001
|
|
NM_003900.5(SQSTM1):c.998G>A (p.Gly333Glu)
|
rs755411592
|
0.00001
|
|
NC_000005.10:g.(?_179836426)_(179836603_?)del
|
|
|
|
NC_000005.9:g.(?_179260012)_(179260802_?)del
|
|
|
|
NC_000005.9:g.(?_179260567)_(179263593_?)dup
|
|
|
|
NC_000005.9:g.(?_179263416)_(179263593_?)del
|
|
|
|
NM_003900.5(SQSTM1):c.*2_*4del (p.Ter441=)
|
rs765964997
|
|
|
NM_003900.5(SQSTM1):c.1001G>A (p.Gly334Glu)
|
|
|
|
NM_003900.5(SQSTM1):c.1002A>T (p.Gly334=)
|
|
|
|
NM_003900.5(SQSTM1):c.1005T>A (p.Asp335Glu)
|
rs1274935409
|
|
|
NM_003900.5(SQSTM1):c.1005TGA[1] (p.Asp337del)
|
|
|
|
NM_003900.5(SQSTM1):c.1006G>A (p.Asp336Asn)
|
rs1554091442
|
|
|
NM_003900.5(SQSTM1):c.1008T>C (p.Asp336=)
|
|
|
|
NM_003900.5(SQSTM1):c.1014G>C (p.Trp338Cys)
|
|
|
|
NM_003900.5(SQSTM1):c.1021C>G (p.Leu341Val)
|
|
|
|
NM_003900.5(SQSTM1):c.1023G>A (p.Leu341=)
|
|
|
|
NM_003900.5(SQSTM1):c.1030A>C (p.Lys344Gln)
|
rs1554091448
|
|
|
NM_003900.5(SQSTM1):c.1039G>A (p.Asp347Asn)
|
|
|
|
NM_003900.5(SQSTM1):c.103G>A (p.Ala35Thr)
|
|
|
|
NM_003900.5(SQSTM1):c.1043C>A (p.Pro348Gln)
|
|
|
|
NM_003900.5(SQSTM1):c.1045T>A (p.Ser349Thr)
|
rs774512680
|
|
|
NM_003900.5(SQSTM1):c.1049C>G (p.Thr350Arg)
|
|
|
|
NM_003900.5(SQSTM1):c.104C>G (p.Ala35Gly)
|
|
|
|
NM_003900.5(SQSTM1):c.1050A>C (p.Thr350=)
|
rs2113512674
|
|
|
NM_003900.5(SQSTM1):c.1054G>C (p.Glu352Gln)
|
rs765610848
|
|
|
NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter)
|
rs765610848
|
|
|
NM_003900.5(SQSTM1):c.1058T>C (p.Leu353Pro)
|
|
|
|
NM_003900.5(SQSTM1):c.1060C>A (p.Gln354Lys)
|
|
|
|
NM_003900.5(SQSTM1):c.1060del (p.Gln354fs)
|
rs1758356210
|
|
|
NM_003900.5(SQSTM1):c.1062G>C (p.Gln354His)
|
|
|
|
NM_003900.5(SQSTM1):c.1062G>T (p.Gln354His)
|
|
|
|
NM_003900.5(SQSTM1):c.1069C>G (p.Gln357Glu)
|
rs2113512735
|
|
|
NM_003900.5(SQSTM1):c.1070A>G (p.Gln357Arg)
|
|
|
|
NM_003900.5(SQSTM1):c.1071G>T (p.Gln357His)
|
|
|
|
NM_003900.5(SQSTM1):c.1072A>G (p.Met358Val)
|
rs2113512757
|
|
|
NM_003900.5(SQSTM1):c.1074G>A (p.Met358Ile)
|
|
|
|
NM_003900.5(SQSTM1):c.1081T>G (p.Ser361Ala)
|
|
|
|
NM_003900.5(SQSTM1):c.1087G>A (p.Gly363Arg)
|
|
|
|
NM_003900.5(SQSTM1):c.1089G>A (p.Gly363=)
|
rs2113512810
|
|
|
NM_003900.5(SQSTM1):c.1095C>T (p.Ser365=)
|
|
|
|
NM_003900.5(SQSTM1):c.1097C>G (p.Ser366Cys)
|
rs1582022482
|
|
|
NM_003900.5(SQSTM1):c.109_115delinsC (p.Ala37_Ala39delinsPro)
|
|
|
|
NM_003900.5(SQSTM1):c.1104C>A (p.Asp368Glu)
|
|
|
|
NM_003900.5(SQSTM1):c.1109C>T (p.Ser370Phe)
|
rs2113512860
|
|
|
NM_003900.5(SQSTM1):c.1111C>A (p.Gln371Lys)
|
|
|
|
NM_003900.5(SQSTM1):c.1111C>T (p.Gln371Ter)
|
|
|
|
NM_003900.5(SQSTM1):c.1128G>A (p.Gly376=)
|
rs569052431
|
|
|
NM_003900.5(SQSTM1):c.1129C>G (p.Leu377Val)
|
|
|
|
NM_003900.5(SQSTM1):c.1134G>A (p.Lys378=)
|
rs778833279
|
|
|
NM_003900.5(SQSTM1):c.113C>A (p.Ala38Glu)
|
rs1298281008
|
|
|
NM_003900.5(SQSTM1):c.1145dup (p.Leu382fs)
|
|
|
|
NM_003900.5(SQSTM1):c.1146G>A (p.Leu382=)
|
|
|
|
NM_003900.5(SQSTM1):c.1147T>C (p.Tyr383His)
|
|
|
|
NM_003900.5(SQSTM1):c.1149C>T (p.Tyr383=)
|
|
|
|
NM_003900.5(SQSTM1):c.114G>T (p.Ala38=)
|
|
|
|
NM_003900.5(SQSTM1):c.1150C>G (p.Pro384Ala)
|
|
|
|
NM_003900.5(SQSTM1):c.1150C>T (p.Pro384Ser)
|
|
|
|
NM_003900.5(SQSTM1):c.1151C>T (p.Pro384Leu)
|
|
|
|
NM_003900.5(SQSTM1):c.1152A>C (p.Pro384=)
|
rs944423329
|
|
|
NM_003900.5(SQSTM1):c.1152A>G (p.Pro384=)
|
|
|
|
NM_003900.5(SQSTM1):c.1154A>G (p.His385Arg)
|
rs2113513106
|
|
|
NM_003900.5(SQSTM1):c.1156C>G (p.Leu386Val)
|
|
|
|
NM_003900.5(SQSTM1):c.1156C>T (p.Leu386Phe)
|
|
|
|
NM_003900.5(SQSTM1):c.1158C>T (p.Leu386=)
|
|
|
|
NM_003900.5(SQSTM1):c.1160C>A (p.Pro387Gln)
|
|
|
|
NM_003900.5(SQSTM1):c.1161G>A (p.Pro387=)
|
rs372271201
|
|
|
NM_003900.5(SQSTM1):c.1161G>T (p.Pro387=)
|
|
|
|
NM_003900.5(SQSTM1):c.1163dup (p.Glu389fs)
|
|
|
|
NM_003900.5(SQSTM1):c.1165+10C>T
|
|
|
|
NM_003900.5(SQSTM1):c.1165+12A>G
|
|
|
|
NM_003900.5(SQSTM1):c.1165+13A>G
|
|
|
|
NM_003900.5(SQSTM1):c.1165+7G>T
|
|
|
|
NM_003900.5(SQSTM1):c.1165+9del
|
|
|
|
NM_003900.5(SQSTM1):c.1166-12C>T
|
rs201463748
|
|
|
NM_003900.5(SQSTM1):c.1166-14_1166-11del
|
rs538853972
|
|
|
NM_003900.5(SQSTM1):c.1166-20C>T
|
|
|
|
NM_003900.5(SQSTM1):c.1166-2A>G
|
|
|
|
NM_003900.5(SQSTM1):c.1168G>A (p.Ala390Thr)
|
rs2113524011
|
|
|
NM_003900.5(SQSTM1):c.1170T>C (p.Ala390=)
|
rs1440412378
|
|
|
NM_003900.5(SQSTM1):c.1170del (p.Asp391fs)
|
rs1758558921
|
|
|
NM_003900.5(SQSTM1):c.1171G>A (p.Asp391Asn)
|
rs2113524028
|
|
|
NM_003900.5(SQSTM1):c.1172A>G (p.Asp391Gly)
|
|
|
|
NM_003900.5(SQSTM1):c.1175del (p.Pro392fs)
|
|
|
|
NM_003900.5(SQSTM1):c.117G>A (p.Ala39=)
|
rs1449666849
|
|
|
NM_003900.5(SQSTM1):c.1184T>C (p.Ile395Thr)
|
rs1471635040
|
|
|
NM_003900.5(SQSTM1):c.1185dup (p.Glu396Ter)
|
rs1254158201
|
|
|
NM_003900.5(SQSTM1):c.1188G>A (p.Glu396=)
|
|
|
|
NM_003900.5(SQSTM1):c.1190C>A (p.Ser397Tyr)
|
|
|
|
NM_003900.5(SQSTM1):c.1198C>A (p.Gln400Lys)
|
|
|
|
NM_003900.5(SQSTM1):c.1200G>A (p.Gln400=)
|
|
|
|
NM_003900.5(SQSTM1):c.1200G>C (p.Gln400His)
|
|
|
|
NM_003900.5(SQSTM1):c.1201A>T (p.Met401Leu)
|
rs201795943
|
|
|
NM_003900.5(SQSTM1):c.1202T>C (p.Met401Thr)
|
|
|
|
NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr)
|
|
|
|
NM_003900.5(SQSTM1):c.1207T>G (p.Ser403Ala)
|
|
|
|
NM_003900.5(SQSTM1):c.120T>C (p.Gly40=)
|
|
|
|
NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr)
|
rs1247551175
|
|
|
NM_003900.5(SQSTM1):c.1215C>G (p.Gly405=)
|
rs368933511
|
|
|
NM_003900.5(SQSTM1):c.121C>T (p.Pro41Ser)
|
rs1377640860
|
|
|
NM_003900.5(SQSTM1):c.1237C>G (p.Leu413Val)
|
|
|
|
NM_003900.5(SQSTM1):c.1240A>T (p.Thr414Ser)
|
|
|
|
NM_003900.5(SQSTM1):c.1241C>T (p.Thr414Ile)
|
|
|
|
NM_003900.5(SQSTM1):c.1242C>A (p.Thr414=)
|
rs1554092111
|
|
|
NM_003900.5(SQSTM1):c.1249C>T (p.Leu417=)
|
|
|
|
NM_003900.5(SQSTM1):c.1250T>C (p.Leu417Pro)
|
|
|
|
NM_003900.5(SQSTM1):c.1254G>C (p.Gln418His)
|
|
|
|
NM_003900.5(SQSTM1):c.1257C>A (p.Thr419=)
|
|
|
|
NM_003900.5(SQSTM1):c.1263C>T (p.Asn421=)
|
rs1383894920
|
|
|
NM_003900.5(SQSTM1):c.1269C>T (p.Asp423=)
|
|
|
|
NM_003900.5(SQSTM1):c.1270A>G (p.Ile424Val)
|
|
|
|
NM_003900.5(SQSTM1):c.1276G>A (p.Ala426Thr)
|
rs2113524491
|
|
|
NM_003900.5(SQSTM1):c.1279G>A (p.Ala427Thr)
|
|
|
|
NM_003900.5(SQSTM1):c.127C>T (p.Pro43Ser)
|
|
|
|
NM_003900.5(SQSTM1):c.1288A>C (p.Thr430Pro)
|
rs770118706
|
|
|
NM_003900.5(SQSTM1):c.1290C>G (p.Thr430=)
|
|
|
|
NM_003900.5(SQSTM1):c.1297T>C (p.Tyr433His)
|
rs2113524577
|
|
|
NM_003900.5(SQSTM1):c.129C>T (p.Pro43=)
|
|
|
|
NM_003900.5(SQSTM1):c.1301C>T (p.Ser434Leu)
|
|
|
|
NM_003900.5(SQSTM1):c.1302A>C (p.Ser434=)
|
|
|
|
NM_003900.5(SQSTM1):c.1310C>T (p.Pro437Leu)
|
|
|
|
NM_003900.5(SQSTM1):c.1313C>G (p.Pro438Arg)
|
|
|
|
NM_003900.5(SQSTM1):c.1314G>C (p.Pro438=)
|
|
|
|
NM_003900.5(SQSTM1):c.1315C>T (p.Pro439Ser)
|
|
|
|
NM_003900.5(SQSTM1):c.1316dup (p.Leu440fs)
|
|
|
|
NM_003900.5(SQSTM1):c.1317G>A (p.Pro439=)
|
|
|
|
NM_003900.5(SQSTM1):c.1317G>C (p.Pro439=)
|
|
|
|
NM_003900.5(SQSTM1):c.1320G>A (p.Leu440=)
|
rs753600779
|
|
|
NM_003900.5(SQSTM1):c.133G>C (p.Glu45Gln)
|
|
|
|
NM_003900.5(SQSTM1):c.15C>T (p.Thr5=)
|
rs756670021
|
|
|
NM_003900.5(SQSTM1):c.16G>T (p.Val6Leu)
|
rs778461636
|
|
|
NM_003900.5(SQSTM1):c.206-11A>G
|
|
|
|
NM_003900.5(SQSTM1):c.206-1G>C
|
|
|
|
NM_003900.5(SQSTM1):c.206-2A>G
|
|
|
|
NM_003900.5(SQSTM1):c.206-4C>G
|
rs370778198
|
|
|
NM_003900.5(SQSTM1):c.206-4C>T
|
rs370778198
|
|
|
NM_003900.5(SQSTM1):c.206-7A>C
|
|
|
|
NM_003900.5(SQSTM1):c.206-7_206-4del
|
rs779766449
|
|
|
NM_003900.5(SQSTM1):c.206-8C>T
|
|
|
|
NM_003900.5(SQSTM1):c.206-9A>G
|
rs2113484953
|
|
|
NM_003900.5(SQSTM1):c.210G>C (p.Glu70Asp)
|
rs2113484986
|
|
|
NM_003900.5(SQSTM1):c.211G>A (p.Asp71Asn)
|
|
|
|
NM_003900.5(SQSTM1):c.224T>C (p.Val75Ala)
|
rs1757838607
|
|
|
NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter)
|
rs1425863340
|
|
|
NM_003900.5(SQSTM1):c.24C>T (p.Ala8=)
|
|
|
|
NM_003900.5(SQSTM1):c.252A>C (p.Thr84=)
|
rs752464933
|
|
|
NM_003900.5(SQSTM1):c.254T>C (p.Met85Thr)
|
|
|
|
NM_003900.5(SQSTM1):c.257C>A (p.Ala86Asp)
|
|
|
|
NM_003900.5(SQSTM1):c.259A>G (p.Met87Val)
|
|
|
|
NM_003900.5(SQSTM1):c.259_260insATGCCTTTTCCAGTGACGAGGAATTGACGAGGAAT (p.Met87fs)
|
|
|
|
NM_003900.5(SQSTM1):c.25T>C (p.Tyr9His)
|
|
|
|
NM_003900.5(SQSTM1):c.260T>C (p.Met87Thr)
|
|
|
|
NM_003900.5(SQSTM1):c.261G>A (p.Met87Ile)
|
rs1274176534
|
|
|
NM_003900.5(SQSTM1):c.282C>T (p.Ile94=)
|
|
|
|
NM_003900.5(SQSTM1):c.290T>C (p.Ile97Thr)
|
|
|
|
NM_003900.5(SQSTM1):c.301+10T>A
|
|
|
|
NM_003900.5(SQSTM1):c.301+11_301+12delinsCT
|
|
|
|
NM_003900.5(SQSTM1):c.301+12C>T
|
rs141530539
|
|
|
NM_003900.5(SQSTM1):c.301+13_301+24del
|
rs1582006453
|
|
|
NM_003900.5(SQSTM1):c.301+1G>T
|
rs2113485289
|
|
|
NM_003900.5(SQSTM1):c.301+20G>A
|
|
|
|
NM_003900.5(SQSTM1):c.301+5G>A
|
|
|
|
NM_003900.5(SQSTM1):c.301+6G>C
|
|
|
|
NM_003900.5(SQSTM1):c.301+8G>T
|
|
|
|
NM_003900.5(SQSTM1):c.302-10C>A
|
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|
|
NM_003900.5(SQSTM1):c.302-10C>T
|
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|
|
NM_003900.5(SQSTM1):c.302-11C>T
|
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|
|
NM_003900.5(SQSTM1):c.302-13A>G
|
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|
|
NM_003900.5(SQSTM1):c.302-15T>C
|
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|
|
NM_003900.5(SQSTM1):c.302-17C>T
|
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|
|
NM_003900.5(SQSTM1):c.302-20T>C
|
|
|
|
NM_003900.5(SQSTM1):c.302-4G>A
|
rs1757883398
|
|
|
NM_003900.5(SQSTM1):c.309_311del (p.Glu104del)
|
rs2113487449
|
|
|
NM_003900.5(SQSTM1):c.309dup (p.Glu104fs)
|
|
|
|
NM_003900.5(SQSTM1):c.30T>C (p.Leu10=)
|
|
|
|
NM_003900.5(SQSTM1):c.312G>A (p.Glu104=)
|
|
|
|
NM_003900.5(SQSTM1):c.313T>G (p.Cys105Gly)
|
|
|
|
NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp)
|
rs886060503
|
|
|
NM_003900.5(SQSTM1):c.31C>T (p.Leu11=)
|
|
|
|
NM_003900.5(SQSTM1):c.320G>A (p.Arg107Gln)
|
|
|
|
NM_003900.5(SQSTM1):c.327C>T (p.His109=)
|
rs2113487546
|
|
|
NM_003900.5(SQSTM1):c.329G>A (p.Arg110His)
|
|
|
|
NM_003900.5(SQSTM1):c.333A>C (p.Pro111=)
|
|
|
|
NM_003900.5(SQSTM1):c.336G>A (p.Pro112=)
|
|
|
|
NM_003900.5(SQSTM1):c.339T>C (p.Cys113=)
|
|
|
|
NM_003900.5(SQSTM1):c.347A>G (p.Glu116Gly)
|
rs1757886934
|
|
|
NM_003900.5(SQSTM1):c.34G>C (p.Gly12Arg)
|
|
|
|
NM_003900.5(SQSTM1):c.355C>G (p.Arg119Gly)
|
|
|
|
NM_003900.5(SQSTM1):c.356G>A (p.Arg119His)
|
|
|
|
NM_003900.5(SQSTM1):c.359A>T (p.Asn120Ile)
|
rs1562654519
|
|
|
NM_003900.5(SQSTM1):c.35G>T (p.Gly12Val)
|
rs866832054
|
|
|
NM_003900.5(SQSTM1):c.363G>A (p.Met121Ile)
|
|
|
|
NM_003900.5(SQSTM1):c.364G>A (p.Val122Met)
|
|
|
|
NM_003900.5(SQSTM1):c.367C>T (p.His123Tyr)
|
|
|
|
NM_003900.5(SQSTM1):c.36C>G (p.Gly12=)
|
|
|
|
NM_003900.5(SQSTM1):c.36C>T (p.Gly12=)
|
|
|
|
NM_003900.5(SQSTM1):c.374A>T (p.Asn125Ile)
|
|
|
|
NM_003900.5(SQSTM1):c.375T>C (p.Asn125=)
|
rs2113487764
|
|
|
NM_003900.5(SQSTM1):c.37A>G (p.Lys13Glu)
|
|
|
|
NM_003900.5(SQSTM1):c.381C>G (p.Ile127Met)
|
rs1582007866
|
|
|
NM_003900.5(SQSTM1):c.381C>T (p.Ile127=)
|
|
|
|
NM_003900.5(SQSTM1):c.385G>T (p.Asp129Tyr)
|
rs753212399
|
|
|
NM_003900.5(SQSTM1):c.387T>C (p.Asp129=)
|
|
|
|
NM_003900.5(SQSTM1):c.389G>T (p.Gly130Val)
|
|
|
|
NM_003900.5(SQSTM1):c.392G>A (p.Cys131Tyr)
|
|
|
|
NM_003900.5(SQSTM1):c.395A>G (p.Asn132Ser)
|
|
|
|
NM_003900.5(SQSTM1):c.397G>A (p.Gly133Arg)
|
|
|
|
NM_003900.5(SQSTM1):c.399G>T (p.Gly133=)
|
|
|
|
NM_003900.5(SQSTM1):c.3G>C (p.Met1Ile)
|
|
|
|
NM_003900.5(SQSTM1):c.401C>T (p.Pro134Leu)
|
rs372480231
|
|
|
NM_003900.5(SQSTM1):c.402T>C (p.Pro134=)
|
|
|
|
NM_003900.5(SQSTM1):c.411A>G (p.Gly137=)
|
rs2113487897
|
|
|
NM_003900.5(SQSTM1):c.415del (p.Arg139fs)
|
rs2113487920
|
|
|
NM_003900.5(SQSTM1):c.426C>T (p.Cys142=)
|
|
|
|
NM_003900.5(SQSTM1):c.429C>T (p.Ser143=)
|
rs374417389
|
|
|
NM_003900.5(SQSTM1):c.434G>C (p.Cys145Ser)
|
|
|
|
NM_003900.5(SQSTM1):c.436C>T (p.Pro146Ser)
|
|
|
|
NM_003900.5(SQSTM1):c.436_462dup (p.Cys154_Glu155insProAspTyrAspLeuCysSerValCys)
|
|
|
|
NM_003900.5(SQSTM1):c.43G>A (p.Asp15Asn)
|
|
|
|
NM_003900.5(SQSTM1):c.445G>A (p.Asp149Asn)
|
|
|
|
NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)
|
|
|
|
NM_003900.5(SQSTM1):c.461G>T (p.Cys154Phe)
|
|
|
|
NM_003900.5(SQSTM1):c.462C>T (p.Cys154=)
|
rs775988188
|
|
|
NM_003900.5(SQSTM1):c.463G>A (p.Glu155Lys)
|
|
|
|
NM_003900.5(SQSTM1):c.465G>A (p.Glu155=)
|
|
|
|
NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr)
|
rs773552098
|
|
|
NM_003900.5(SQSTM1):c.473G>A (p.Gly158Asp)
|
|
|
|
NM_003900.5(SQSTM1):c.474C>T (p.Gly158=)
|
rs35266480
|
|
|
NM_003900.5(SQSTM1):c.480C>T (p.His160=)
|
|
|
|
NM_003900.5(SQSTM1):c.482G>A (p.Arg161Gln)
|
rs118160361
|
|
|
NM_003900.5(SQSTM1):c.482G>T (p.Arg161Leu)
|
|
|
|
NM_003900.5(SQSTM1):c.486G>A (p.Gly162=)
|
rs1284664878
|
|
|
NM_003900.5(SQSTM1):c.489C>T (p.His163=)
|
|
|
|
NM_003900.5(SQSTM1):c.499G>A (p.Ala167Thr)
|
|
|
|
NM_003900.5(SQSTM1):c.499_504del (p.Ala167_Phe168del)
|
|
|
|
NM_003900.5(SQSTM1):c.509G>A (p.Ser170Asn)
|
|
|
|
NM_003900.5(SQSTM1):c.511C>A (p.Pro171Thr)
|
|
|
|
NM_003900.5(SQSTM1):c.515T>A (p.Phe172Tyr)
|
|
|
|
NM_003900.5(SQSTM1):c.522C>T (p.His174=)
|
|
|
|
NM_003900.5(SQSTM1):c.526_529del (p.Ser176fs)
|
rs1331685476
|
|
|
NM_003900.5(SQSTM1):c.527C>G (p.Ser176Cys)
|
rs1229776140
|
|
|
NM_003900.5(SQSTM1):c.529G>C (p.Glu177Gln)
|
|
|
|
NM_003900.5(SQSTM1):c.530A>C (p.Glu177Ala)
|
rs1392938040
|
|
|
NM_003900.5(SQSTM1):c.531+14C>G
|
|
|
|
NM_003900.5(SQSTM1):c.531+15dup
|
rs2113488538
|
|
|
NM_003900.5(SQSTM1):c.531+16G>A
|
|
|
|
NM_003900.5(SQSTM1):c.531+16G>T
|
|
|
|
NM_003900.5(SQSTM1):c.531+6C>T
|
|
|
|
NM_003900.5(SQSTM1):c.531+7A>G
|
rs2113488503
|
|
|
NM_003900.5(SQSTM1):c.532-18T>C
|
|
|
|
NM_003900.5(SQSTM1):c.532-5C>T
|
|
|
|
NM_003900.5(SQSTM1):c.532-6C>T
|
rs2113488787
|
|
|
NM_003900.5(SQSTM1):c.532-7C>A
|
rs770329828
|
|
|
NM_003900.5(SQSTM1):c.532-9C>T
|
|
|
|
NM_003900.5(SQSTM1):c.539C>T (p.Ser180Leu)
|
|
|
|
NM_003900.5(SQSTM1):c.556C>T (p.Arg186Trp)
|
|
|
|
NM_003900.5(SQSTM1):c.561G>C (p.Lys187Asn)
|
rs1757907176
|
|
|
NM_003900.5(SQSTM1):c.571G>T (p.Gly191Ter)
|
|
|
|
NM_003900.5(SQSTM1):c.575A>G (p.His192Arg)
|
rs1562655554
|
|
|
NM_003900.5(SQSTM1):c.579C>T (p.Phe193=)
|
|
|
|
NM_003900.5(SQSTM1):c.57G>A (p.Glu19=)
|
rs1582002994
|
|
|
NM_003900.5(SQSTM1):c.57G>C (p.Glu19Asp)
|
|
|
|
NM_003900.5(SQSTM1):c.580G>A (p.Gly194Arg)
|
|
|
|
NM_003900.5(SQSTM1):c.580G>C (p.Gly194Arg)
|
rs373585056
|
|
|
NM_003900.5(SQSTM1):c.581G>A (p.Gly194Glu)
|
|
|
|
NM_003900.5(SQSTM1):c.581G>C (p.Gly194Ala)
|
|
|
|
NM_003900.5(SQSTM1):c.588A>G (p.Pro196=)
|
|
|
|
NM_003900.5(SQSTM1):c.590G>A (p.Gly197Glu)
|
|
|
|
NM_003900.5(SQSTM1):c.5C>T (p.Ala2Val)
|
rs377371202
|
|
|
NM_003900.5(SQSTM1):c.604C>T (p.Pro202Ser)
|
|
|
|
NM_003900.5(SQSTM1):c.606A>G (p.Pro202=)
|
rs2113489068
|
|
|
NM_003900.5(SQSTM1):c.608C>A (p.Pro203Gln)
|
|
|
|
NM_003900.5(SQSTM1):c.608C>T (p.Pro203Leu)
|
|
|
|
NM_003900.5(SQSTM1):c.609A>G (p.Pro203=)
|
rs1253593077
|
|
|
NM_003900.5(SQSTM1):c.615C>T (p.Asn205=)
|
rs771036207
|
|
|
NM_003900.5(SQSTM1):c.616_617del (p.Trp206fs)
|
|
|
|
NM_003900.5(SQSTM1):c.620G>A (p.Ser207Asn)
|
|
|
|
NM_003900.5(SQSTM1):c.621C>T (p.Ser207=)
|
|
|
|
NM_003900.5(SQSTM1):c.622C>A (p.Pro208Thr)
|
rs1256909021
|
|
|
NM_003900.5(SQSTM1):c.623C>T (p.Pro208Leu)
|
rs1757909856
|
|
|
NM_003900.5(SQSTM1):c.626G>A (p.Arg209His)
|
rs1303154345
|
|
|
NM_003900.5(SQSTM1):c.626G>C (p.Arg209Pro)
|
|
|
|
NM_003900.5(SQSTM1):c.628C>T (p.Pro210Ser)
|
rs1370363543
|
|
|
NM_003900.5(SQSTM1):c.629CTC[1] (p.Pro211del)
|
rs747274001
|
|
|
NM_003900.5(SQSTM1):c.631C>T (p.Pro211Ser)
|
|
|
|
NM_003900.5(SQSTM1):c.634C>G (p.Arg212Gly)
|
rs201263163
|
|
|
NM_003900.5(SQSTM1):c.634C>T (p.Arg212Cys)
|
rs201263163
|
|
|
NM_003900.5(SQSTM1):c.635G>A (p.Arg212His)
|
|
|
|
NM_003900.5(SQSTM1):c.635G>C (p.Arg212Pro)
|
|
|
|
NM_003900.5(SQSTM1):c.639A>G (p.Ala213=)
|
|
|
|
NM_003900.5(SQSTM1):c.63C>T (p.Arg21=)
|
|
|
|
NM_003900.5(SQSTM1):c.651C>T (p.Arg217=)
|
|
|
|
NM_003900.5(SQSTM1):c.654T>C (p.Pro218=)
|
rs2113489256
|
|
|
NM_003900.5(SQSTM1):c.65G>A (p.Arg22His)
|
|
|
|
NM_003900.5(SQSTM1):c.662C>T (p.Thr221Met)
|
rs199663339
|
|
|
NM_003900.5(SQSTM1):c.673+15G>A
|
|
|
|
NM_003900.5(SQSTM1):c.673+19C>A
|
|
|
|
NM_003900.5(SQSTM1):c.673+19C>T
|
|
|
|
NM_003900.5(SQSTM1):c.673+9T>G
|
rs2113489349
|
|
|
NM_003900.5(SQSTM1):c.673G>C (p.Ala225Pro)
|
|
|
|
NM_003900.5(SQSTM1):c.674-11A>G
|
|
|
|
NM_003900.5(SQSTM1):c.674-13G>A
|
rs2113491112
|
|
|
NM_003900.5(SQSTM1):c.674-18T>G
|
rs1317780724
|
|
|
NM_003900.5(SQSTM1):c.674-5C>T
|
|
|
|
NM_003900.5(SQSTM1):c.674-7dup
|
rs761346520
|
|
|
NM_003900.5(SQSTM1):c.674-8A>G
|
|
|
|
NM_003900.5(SQSTM1):c.677C>G (p.Ser226Cys)
|
|
|
|
NM_003900.5(SQSTM1):c.684A>G (p.Pro228=)
|
|
|
|
NM_003900.5(SQSTM1):c.686C>A (p.Ser229Ter)
|
|
|
|
NM_003900.5(SQSTM1):c.687G>C (p.Ser229=)
|
rs140341924
|
|
|
NM_003900.5(SQSTM1):c.698G>C (p.Ser233Thr)
|
|
|
|
NM_003900.5(SQSTM1):c.69C>T (p.Phe23=)
|
rs766419538
|
|
|
NM_003900.5(SQSTM1):c.703A>G (p.Asn235Asp)
|
rs1467107148
|
|
|
NM_003900.5(SQSTM1):c.705T>C (p.Asn235=)
|
|
|
|
NM_003900.5(SQSTM1):c.707T>G (p.Phe236Cys)
|
|
|
|
NM_003900.5(SQSTM1):c.70A>G (p.Ser24Gly)
|
|
|
|
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del)
|
rs796052214
|
|
|
NM_003900.5(SQSTM1):c.718G>A (p.Val240Ile)
|
|
|
|
NM_003900.5(SQSTM1):c.723G>A (p.Gly241=)
|
rs889431769
|
|
|
NM_003900.5(SQSTM1):c.726G>A (p.Glu242=)
|
|
|
|
NM_003900.5(SQSTM1):c.728G>C (p.Ser243Thr)
|
|
|
|
NM_003900.5(SQSTM1):c.740C>T (p.Ala247Val)
|
|
|
|
NM_003900.5(SQSTM1):c.748C>T (p.Pro250Ser)
|
|
|
|
NM_003900.5(SQSTM1):c.751C>T (p.Leu251=)
|
|
|
|
NM_003900.5(SQSTM1):c.752T>C (p.Leu251Pro)
|
|
|
|
NM_003900.5(SQSTM1):c.754+10C>T
|
|
|
|
NM_003900.5(SQSTM1):c.754+11C>G
|
|
|
|
NM_003900.5(SQSTM1):c.754+11C>T
|
|
|
|
NM_003900.5(SQSTM1):c.754+13C>A
|
rs1232662115
|
|
|
NM_003900.5(SQSTM1):c.754+18C>T
|
|
|
|
NM_003900.5(SQSTM1):c.754+5G>A
|
|
|
|
NM_003900.5(SQSTM1):c.754+8C>T
|
|
|
|
NM_003900.5(SQSTM1):c.755-12C>G
|
|
|
|
NM_003900.5(SQSTM1):c.755-12C>T
|
rs1043468451
|
|
|
NM_003900.5(SQSTM1):c.755-13C>T
|
|
|
|
NM_003900.5(SQSTM1):c.755-15C>G
|
|
|
|
NM_003900.5(SQSTM1):c.755-20C>G
|
|
|
|
NM_003900.5(SQSTM1):c.755-4C>T
|
|
|
|
NM_003900.5(SQSTM1):c.755-6C>T
|
|
|
|
NM_003900.5(SQSTM1):c.755-8G>T
|
rs369581639
|
|
|
NM_003900.5(SQSTM1):c.758T>C (p.Ile253Thr)
|
rs753016349
|
|
|
NM_003900.5(SQSTM1):c.75C>G (p.Phe25Leu)
|
|
|
|
NM_003900.5(SQSTM1):c.763G>A (p.Val255Ile)
|
rs182522590
|
|
|
NM_003900.5(SQSTM1):c.763dup (p.Val255fs)
|
|
|
|
NM_003900.5(SQSTM1):c.766_767delinsCT (p.Asp256Leu)
|
|
|
|
NM_003900.5(SQSTM1):c.767A>C (p.Asp256Ala)
|
rs988411948
|
|
|
NM_003900.5(SQSTM1):c.767A>G (p.Asp256Gly)
|
rs988411948
|
|
|
NM_003900.5(SQSTM1):c.771C>G (p.Ile257Met)
|
rs372827450
|
|
|
NM_003900.5(SQSTM1):c.771C>T (p.Ile257=)
|
rs372827450
|
|
|
NM_003900.5(SQSTM1):c.785G>A (p.Gly262Glu)
|
|
|
|
NM_003900.5(SQSTM1):c.786A>G (p.Gly262=)
|
rs1214357767
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NM_003900.5(SQSTM1):c.787G>A (p.Gly263Arg)
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NM_003900.5(SQSTM1):c.78C>T (p.Cys26=)
|
rs2113479661
|
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NM_003900.5(SQSTM1):c.792AAG[1] (p.Arg265del)
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NM_003900.5(SQSTM1):c.797G>A (p.Ser266Asn)
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NM_003900.5(SQSTM1):c.805A>T (p.Thr269Ser)
|
rs745853858
|
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NM_003900.5(SQSTM1):c.809C>G (p.Pro270Arg)
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NM_003900.5(SQSTM1):c.810del (p.Val271fs)
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rs1758316662
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NM_003900.5(SQSTM1):c.815C>G (p.Ser272Cys)
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NM_003900.5(SQSTM1):c.815_818del (p.Val271_Ser272insTer)
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NM_003900.5(SQSTM1):c.820G>T (p.Glu274Ter)
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NM_003900.5(SQSTM1):c.823A>T (p.Ser275Cys)
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NM_003900.5(SQSTM1):c.823_824del (p.Ser275fs)
|
rs1273214757
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NM_003900.5(SQSTM1):c.827C>T (p.Ser276Phe)
|
rs202119215
|
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NM_003900.5(SQSTM1):c.829A>G (p.Ser277Gly)
|
rs2113510695
|
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NM_003900.5(SQSTM1):c.833C>T (p.Thr278Ile)
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NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del)
|
rs752009611
|
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NM_003900.5(SQSTM1):c.837G>A (p.Glu279=)
|
rs2113510724
|
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NM_003900.5(SQSTM1):c.848G>C (p.Ser283Thr)
|
rs760785371
|
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NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg)
|
rs759823891
|
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NM_003900.5(SQSTM1):c.84C>T (p.Ser28=)
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NM_003900.5(SQSTM1):c.850T>A (p.Ser284Thr)
|
rs764205744
|
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NM_003900.5(SQSTM1):c.854A>G (p.Gln285Arg)
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NM_003900.5(SQSTM1):c.857C>T (p.Pro286Leu)
|
rs754060027
|
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NM_003900.5(SQSTM1):c.86C>G (p.Pro29Arg)
|
rs1012113887
|
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NM_003900.5(SQSTM1):c.880_891del (p.Ser294_Gly297del)
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|
NM_003900.5(SQSTM1):c.885G>A (p.Lys295=)
|
rs2113510916
|
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|
NM_003900.5(SQSTM1):c.888G>T (p.Pro296=)
|
rs148984239
|
|
|
NM_003900.5(SQSTM1):c.889G>C (p.Gly297Arg)
|
|
|
|
NM_003900.5(SQSTM1):c.88G>A (p.Glu30Lys)
|
rs764111892
|
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|
NM_003900.5(SQSTM1):c.892G>A (p.Gly298Arg)
|
rs2113510972
|
|
|
NM_003900.5(SQSTM1):c.897T>C (p.Asn299=)
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NM_003900.5(SQSTM1):c.8C>T (p.Ser3Leu)
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|
NM_003900.5(SQSTM1):c.901G>T (p.Glu301Ter)
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|
NM_003900.5(SQSTM1):c.903G>C (p.Glu301Asp)
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|
NM_003900.5(SQSTM1):c.904G>A (p.Gly302Ser)
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|
NM_003900.5(SQSTM1):c.904G>C (p.Gly302Arg)
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|
|
NM_003900.5(SQSTM1):c.918T>C (p.Ser306=)
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|
|
NM_003900.5(SQSTM1):c.919C>T (p.Leu307=)
|
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|
|
NM_003900.5(SQSTM1):c.921G>A (p.Leu307=)
|
|
|
|
NM_003900.5(SQSTM1):c.923C>A (p.Ala308Glu)
|
|
|
|
NM_003900.5(SQSTM1):c.933G>A (p.Met311Ile)
|
|
|
|
NM_003900.5(SQSTM1):c.934A>C (p.Arg312=)
|
|
|
|
NM_003900.5(SQSTM1):c.935_936delinsAA (p.Arg312Lys)
|
|
|
|
NM_003900.5(SQSTM1):c.936_937delinsAG (p.Lys313Glu)
|
|
|
|
NM_003900.5(SQSTM1):c.942C>G (p.Ile314Met)
|
rs200695664
|
|
|
NM_003900.5(SQSTM1):c.944C>T (p.Ala315Val)
|
|
|
|
NM_003900.5(SQSTM1):c.956del (p.Glu319fs)
|
|
|
|
NM_003900.5(SQSTM1):c.95_112dup (p.Ala37_Ala38insGluAlaGluAlaGluAla)
|
|
|
|
NM_003900.5(SQSTM1):c.960G>A (p.Gly320=)
|
|
|
|
NM_003900.5(SQSTM1):c.964C>A (p.Pro322Thr)
|
|
|
|
NM_003900.5(SQSTM1):c.969+14C>T
|
|
|
|
NM_003900.5(SQSTM1):c.969G>A (p.Glu323=)
|
rs2113511316
|
|
|
NM_003900.5(SQSTM1):c.96G>A (p.Glu32=)
|
|
|
|
NM_003900.5(SQSTM1):c.970-13A>G
|
rs1013927869
|
|
|
NM_003900.5(SQSTM1):c.970-13_970-12del
|
|
|
|
NM_003900.5(SQSTM1):c.970-18T>C
|
|
|
|
NM_003900.5(SQSTM1):c.970-20C>T
|
|
|
|
NM_003900.5(SQSTM1):c.970-2A>G
|
rs2113512370
|
|
|
NM_003900.5(SQSTM1):c.970-4C>T
|
|
|
|
NM_003900.5(SQSTM1):c.970-8T>C
|
|
|
|
NM_003900.5(SQSTM1):c.970G>A (p.Glu324Lys)
|
rs1436000961
|
|
|
NM_003900.5(SQSTM1):c.970del
|
rs758377403
|
|
|
NM_003900.5(SQSTM1):c.973C>T (p.Gln325Ter)
|
|
|
|
NM_003900.5(SQSTM1):c.979G>A (p.Glu327Lys)
|
rs1358261412
|
|
|
NM_003900.5(SQSTM1):c.979dup (p.Glu327fs)
|
|
|
|
NM_003900.5(SQSTM1):c.97G>A (p.Ala33Thr)
|
|
|
|
NM_003900.5(SQSTM1):c.983C>T (p.Ser328Leu)
|
|
|
|
NM_003900.5(SQSTM1):c.985G>A (p.Asp329Asn)
|
|
|
|
NM_003900.5(SQSTM1):c.988A>G (p.Asn330Asp)
|
|
|
|
NM_003900.5(SQSTM1):c.989A>C (p.Asn330Thr)
|
|
|
|
NM_003900.5(SQSTM1):c.98C>G (p.Ala33Gly)
|
|
|
|
NM_003900.5(SQSTM1):c.991T>C (p.Cys331Arg)
|
|
|
|
NM_003900.5(SQSTM1):c.994T>A (p.Ser332Thr)
|
|
|
|
NM_003900.5(SQSTM1):c.995C>T (p.Ser332Leu)
|
rs1185406298
|
|
|
NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del)
|
rs778047147
|
|
|
NM_003900.5(SQSTM1):c.9G>A (p.Ser3=)
|
|
|