NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile)
|
rs145056421
|
0.00029
|
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.85C>T (p.Pro29Ser)
|
rs752506754
|
0.00010
|
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.1316C>T (p.Pro439Leu)
|
rs199854262
|
0.00006
|
NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser)
|
rs769325755
|
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.811G>A (p.Val271Ile)
|
rs376283809
|
0.00006
|
NM_003900.5(SQSTM1):c.962G>A (p.Arg321His)
|
rs752889531
|
0.00006
|
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.251C>T (p.Thr84Ile)
|
rs539682696
|
0.00004
|
NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val)
|
rs141502868
|
0.00004
|
NM_003900.5(SQSTM1):c.650G>A (p.Arg217His)
|
rs761822261
|
0.00004
|
NM_003900.5(SQSTM1):c.719T>C (p.Val240Ala)
|
rs142719499
|
0.00004
|
NM_003900.5(SQSTM1):c.911C>T (p.Thr304Met)
|
rs150926394
|
0.00004
|
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.335C>T (p.Pro112Leu)
|
rs761423892
|
0.00003
|
NM_003900.5(SQSTM1):c.416G>A (p.Arg139His)
|
rs758090054
|
0.00003
|
NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg)
|
rs781478225
|
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.1142C>T (p.Ala381Val)
|
rs772122047
|
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.1A>G (p.Met1Val)
|
rs1302810798
|
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.562G>A (p.Val188Met)
|
rs371832577
|
0.00002
|
NM_003900.5(SQSTM1):c.632C>G (p.Pro211Arg)
|
rs368010261
|
0.00002
|
NM_003900.5(SQSTM1):c.727A>T (p.Ser243Cys)
|
rs769873457
|
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.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.1084G>A (p.Glu362Lys)
|
rs535932454
|
0.00001
|
NM_003900.5(SQSTM1):c.1090C>T (p.Pro364Ser)
|
rs776303544
|
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.1265A>G (p.Tyr422Cys)
|
rs1471403162
|
0.00001
|
NM_003900.5(SQSTM1):c.1315C>A (p.Pro439Thr)
|
rs752910741
|
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.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.293A>G (p.Tyr98Cys)
|
rs750784335
|
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.361A>G (p.Met121Val)
|
rs1209470881
|
0.00001
|
NM_003900.5(SQSTM1):c.385G>A (p.Asp129Asn)
|
rs753212399
|
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.508A>G (p.Ser170Gly)
|
rs377198490
|
0.00001
|
NM_003900.5(SQSTM1):c.517G>A (p.Gly173Arg)
|
rs200731802
|
0.00001
|
NM_003900.5(SQSTM1):c.557G>A (p.Arg186Gln)
|
rs778537429
|
0.00001
|
NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys)
|
rs867275286
|
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.728G>A (p.Ser243Asn)
|
rs1325278483
|
0.00001
|
NM_003900.5(SQSTM1):c.73T>C (p.Phe25Leu)
|
rs1353365075
|
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.866G>A (p.Cys289Tyr)
|
rs757493001
|
0.00001
|
NM_003900.5(SQSTM1):c.923C>T (p.Ala308Val)
|
rs541356917
|
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.97G>T (p.Ala33Ser)
|
rs1156716975
|
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.-27C>T
|
rs781131232
|
|
NM_003900.5(SQSTM1):c.1001G>A (p.Gly334Glu)
|
|
|
NM_003900.5(SQSTM1):c.1005TGA[1] (p.Asp337del)
|
|
|
NM_003900.5(SQSTM1):c.1006G>A (p.Asp336Asn)
|
rs1554091442
|
|
NM_003900.5(SQSTM1):c.1014G>C (p.Trp338Cys)
|
|
|
NM_003900.5(SQSTM1):c.1030A>C (p.Lys344Gln)
|
rs1554091448
|
|
NM_003900.5(SQSTM1):c.1039G>A (p.Asp347Asn)
|
|
|
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.1054G>C (p.Glu352Gln)
|
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.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.1129C>G (p.Leu377Val)
|
|
|
NM_003900.5(SQSTM1):c.113C>A (p.Ala38Glu)
|
rs1298281008
|
|
NM_003900.5(SQSTM1):c.1147T>C (p.Tyr383His)
|
|
|
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.1154A>G (p.His385Arg)
|
rs2113513106
|
|
NM_003900.5(SQSTM1):c.1156C>G (p.Leu386Val)
|
|
|
NM_003900.5(SQSTM1):c.1159C>G (p.Pro387Ala)
|
|
|
NM_003900.5(SQSTM1):c.1166-2A>G
|
|
|
NM_003900.5(SQSTM1):c.1168G>A (p.Ala390Thr)
|
rs2113524011
|
|
NM_003900.5(SQSTM1):c.1171G>A (p.Asp391Asn)
|
rs2113524028
|
|
NM_003900.5(SQSTM1):c.1172A>G (p.Asp391Gly)
|
|
|
NM_003900.5(SQSTM1):c.1184T>C (p.Ile395Thr)
|
rs1471635040
|
|
NM_003900.5(SQSTM1):c.1190C>A (p.Ser397Tyr)
|
|
|
NM_003900.5(SQSTM1):c.1198C>A (p.Gln400Lys)
|
|
|
NM_003900.5(SQSTM1):c.1200G>C (p.Gln400His)
|
|
|
NM_003900.5(SQSTM1):c.1207T>G (p.Ser403Ala)
|
|
|
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.1254G>C (p.Gln418His)
|
|
|
NM_003900.5(SQSTM1):c.1270A>G (p.Ile424Val)
|
|
|
NM_003900.5(SQSTM1):c.1276G>A (p.Ala426Thr)
|
rs2113524491
|
|
NM_003900.5(SQSTM1):c.127C>T (p.Pro43Ser)
|
|
|
NM_003900.5(SQSTM1):c.1288A>C (p.Thr430Pro)
|
rs770118706
|
|
NM_003900.5(SQSTM1):c.1297T>C (p.Tyr433His)
|
rs2113524577
|
|
NM_003900.5(SQSTM1):c.1306C>T (p.His436Tyr)
|
rs534476029
|
|
NM_003900.5(SQSTM1):c.1310C>T (p.Pro437Leu)
|
|
|
NM_003900.5(SQSTM1):c.1313C>G (p.Pro438Arg)
|
|
|
NM_003900.5(SQSTM1):c.1315C>T (p.Pro439Ser)
|
|
|
NM_003900.5(SQSTM1):c.1316dup (p.Leu440fs)
|
|
|
NM_003900.5(SQSTM1):c.133G>C (p.Glu45Gln)
|
|
|
NM_003900.5(SQSTM1):c.16G>T (p.Val6Leu)
|
rs778461636
|
|
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.240C>G (p.Asp80Glu)
|
rs148366738
|
|
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.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.301+6G>C
|
|
|
NM_003900.5(SQSTM1):c.309_311del (p.Glu104del)
|
rs2113487449
|
|
NM_003900.5(SQSTM1):c.313T>G (p.Cys105Gly)
|
|
|
NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp)
|
rs886060503
|
|
NM_003900.5(SQSTM1):c.320G>A (p.Arg107Gln)
|
|
|
NM_003900.5(SQSTM1):c.329G>A (p.Arg110His)
|
|
|
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.367C>T (p.His123Tyr)
|
|
|
NM_003900.5(SQSTM1):c.36C>T (p.Gly12=)
|
|
|
NM_003900.5(SQSTM1):c.374A>T (p.Asn125Ile)
|
|
|
NM_003900.5(SQSTM1):c.37A>G (p.Lys13Glu)
|
|
|
NM_003900.5(SQSTM1):c.381C>G (p.Ile127Met)
|
rs1582007866
|
|
NM_003900.5(SQSTM1):c.385G>T (p.Asp129Tyr)
|
rs753212399
|
|
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.3G>C (p.Met1Ile)
|
|
|
NM_003900.5(SQSTM1):c.401C>T (p.Pro134Leu)
|
rs372480231
|
|
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.463G>A (p.Glu155Lys)
|
|
|
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.482G>A (p.Arg161Gln)
|
rs118160361
|
|
NM_003900.5(SQSTM1):c.482G>T (p.Arg161Leu)
|
|
|
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.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.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.575A>G (p.His192Arg)
|
rs1562655554
|
|
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.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.608C>A (p.Pro203Gln)
|
|
|
NM_003900.5(SQSTM1):c.608C>T (p.Pro203Leu)
|
|
|
NM_003900.5(SQSTM1):c.620G>A (p.Ser207Asn)
|
|
|
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.662C>T (p.Thr221Met)
|
rs199663339
|
|
NM_003900.5(SQSTM1):c.674-18T>G
|
rs1317780724
|
|
NM_003900.5(SQSTM1):c.674-8A>G
|
|
|
NM_003900.5(SQSTM1):c.677C>G (p.Ser226Cys)
|
|
|
NM_003900.5(SQSTM1):c.698G>C (p.Ser233Thr)
|
|
|
NM_003900.5(SQSTM1):c.703A>G (p.Asn235Asp)
|
rs1467107148
|
|
NM_003900.5(SQSTM1):c.707T>G (p.Phe236Cys)
|
|
|
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del)
|
rs796052214
|
|
NM_003900.5(SQSTM1):c.718G>A (p.Val240Ile)
|
|
|
NM_003900.5(SQSTM1):c.728G>C (p.Ser243Thr)
|
|
|
NM_003900.5(SQSTM1):c.748C>T (p.Pro250Ser)
|
|
|
NM_003900.5(SQSTM1):c.752T>C (p.Leu251Pro)
|
|
|
NM_003900.5(SQSTM1):c.754+5G>A
|
|
|
NM_003900.5(SQSTM1):c.758T>C (p.Ile253Thr)
|
rs753016349
|
|
NM_003900.5(SQSTM1):c.763G>A (p.Val255Ile)
|
rs182522590
|
|
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.785G>A (p.Gly262Glu)
|
|
|
NM_003900.5(SQSTM1):c.792AAG[1] (p.Arg265del)
|
|
|
NM_003900.5(SQSTM1):c.805A>T (p.Thr269Ser)
|
rs745853858
|
|
NM_003900.5(SQSTM1):c.815C>G (p.Ser272Cys)
|
|
|
NM_003900.5(SQSTM1):c.823A>T (p.Ser275Cys)
|
|
|
NM_003900.5(SQSTM1):c.827C>T (p.Ser276Phe)
|
rs202119215
|
|
NM_003900.5(SQSTM1):c.829A>G (p.Ser277Gly)
|
rs2113510695
|
|
NM_003900.5(SQSTM1):c.833C>T (p.Thr278Ile)
|
|
|
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del)
|
rs752009611
|
|
NM_003900.5(SQSTM1):c.848G>C (p.Ser283Thr)
|
rs760785371
|
|
NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg)
|
rs759823891
|
|
NM_003900.5(SQSTM1):c.850T>A (p.Ser284Thr)
|
rs764205744
|
|
NM_003900.5(SQSTM1):c.857C>T (p.Pro286Leu)
|
rs754060027
|
|
NM_003900.5(SQSTM1):c.86C>G (p.Pro29Arg)
|
rs1012113887
|
|
NM_003900.5(SQSTM1):c.889G>C (p.Gly297Arg)
|
|
|
NM_003900.5(SQSTM1):c.88G>A (p.Glu30Lys)
|
rs764111892
|
|
NM_003900.5(SQSTM1):c.892G>A (p.Gly298Arg)
|
rs2113510972
|
|
NM_003900.5(SQSTM1):c.8C>T (p.Ser3Leu)
|
|
|
NM_003900.5(SQSTM1):c.923C>A (p.Ala308Glu)
|
|
|
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.964C>A (p.Pro322Thr)
|
|
|
NM_003900.5(SQSTM1):c.969G>A (p.Glu323=)
|
rs2113511316
|
|
NM_003900.5(SQSTM1):c.970G>A (p.Glu324Lys)
|
rs1436000961
|
|
NM_003900.5(SQSTM1):c.970del
|
rs758377403
|
|
NM_003900.5(SQSTM1):c.979G>A (p.Glu327Lys)
|
rs1358261412
|
|
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.994T>A (p.Ser332Thr)
|
|
|
NM_003900.5(SQSTM1):c.995C>T (p.Ser332Leu)
|
rs1185406298
|
|
NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del)
|
rs778047147
|
|