NM_002294.3(LAMP2):c.156A>T (p.Val52=)
|
rs12097
|
0.39324
|
NM_002294.3(LAMP2):c.929-293T>C
|
rs7889047
|
0.37204
|
NM_002294.2(LAMP2):c.-421T>G
|
rs28603270
|
0.13168
|
NM_002294.3(LAMP2):c.*1314T>C
|
rs5957381
|
0.09876
|
NM_002294.3(LAMP2):c.*297A>C
|
rs8160
|
0.09815
|
NM_002294.3(LAMP2):c.*3248G>A
|
rs5957380
|
0.09812
|
NM_002294.3(LAMP2):c.*486A>G
|
rs5957383
|
0.09784
|
NM_002294.3(LAMP2):c.*2395A>G
|
rs10127185
|
0.09686
|
NM_002294.3(LAMP2):c.*2460A>G
|
rs10127182
|
0.08629
|
NM_002294.3(LAMP2):c.398-110T>G
|
rs59050206
|
0.08618
|
NM_002294.3(LAMP2):c.*2195T>C
|
rs13441024
|
0.08473
|
NM_002294.3(LAMP2):c.865-121C>T
|
rs58622214
|
0.07851
|
NM_002294.3(LAMP2):c.928+245A>G
|
rs73639314
|
0.07730
|
NM_002294.3(LAMP2):c.65-314G>A
|
rs73639316
|
0.05699
|
NM_002294.3(LAMP2):c.865-221A>T
|
rs56067154
|
0.05475
|
NM_002294.3(LAMP2):c.*1589A>G
|
rs73612906
|
0.03180
|
NM_002294.3(LAMP2):c.927C>T (p.Ser309=)
|
rs73219144
|
0.02702
|
NM_002294.3(LAMP2):c.*205C>T
|
rs41300191
|
0.02502
|
NM_002294.3(LAMP2):c.*2524T>C
|
rs150119198
|
0.01799
|
NM_002294.3(LAMP2):c.*2746A>G
|
rs3827478
|
0.01396
|
NM_002294.3(LAMP2):c.1094-140A>G
|
rs141348126
|
0.01356
|
NM_002294.3(LAMP2):c.929-126G>A
|
rs7888393
|
0.01266
|
NM_002294.3(LAMP2):c.*3249T>C
|
rs41300908
|
0.01188
|
NM_002294.3(LAMP2):c.865-242C>A
|
rs146283621
|
0.01021
|
NM_002294.3(LAMP2):c.741+224C>T
|
rs181256167
|
0.01012
|
NM_002294.3(LAMP2):c.*2162G>A
|
rs767123866
|
0.00966
|
NM_002294.3(LAMP2):c.1094-322G>A
|
rs57800983
|
0.00828
|
NM_002294.3(LAMP2):c.*3459G>T
|
rs185990694
|
0.00648
|
NM_002294.3(LAMP2):c.*237C>T
|
rs143070918
|
0.00627
|
NM_002294.3(LAMP2):c.929-292G>A
|
rs185059445
|
0.00492
|
NM_002294.3(LAMP2):c.865-310C>T
|
rs181144328
|
0.00480
|
NM_002294.3(LAMP2):c.*1984G>A
|
rs148513908
|
0.00454
|
NM_002294.3(LAMP2):c.1093+2514G>A
|
rs144140265
|
0.00404
|
NM_002294.3(LAMP2):c.65-58T>A
|
rs192733755
|
0.00307
|
NM_002294.3(LAMP2):c.929-35A>T
|
rs149208640
|
0.00198
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
NM_013995.2(LAMP2):c.-138G>T
|
rs144321444
|
0.00155
|
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
|
rs141541387
|
0.00119
|
NM_002294.3(LAMP2):c.864+83G>A
|
rs768677322
|
0.00113
|
NM_002294.3(LAMP2):c.-33C>T
|
rs368403767
|
0.00083
|
NM_002294.3(LAMP2):c.339C>T (p.Ser113=)
|
rs147369153
|
0.00066
|
NM_002294.3(LAMP2):c.504C>T (p.Tyr168=)
|
rs150520869
|
0.00060
|
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr)
|
rs149276836
|
0.00045
|
NM_002294.3(LAMP2):c.*15T>C
|
rs376806600
|
0.00042
|
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)
|
rs138991195
|
0.00039
|
NM_002294.3(LAMP2):c.-10C>T
|
rs201209341
|
0.00028
|
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala)
|
rs139633545
|
0.00026
|
NM_002294.3(LAMP2):c.741+11C>T
|
rs149155417
|
0.00024
|
NM_002294.3(LAMP2):c.1093+2450G>A
|
rs149783672
|
0.00015
|
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp)
|
rs730880478
|
0.00015
|
NM_002294.3(LAMP2):c.1093+2478A>G
|
rs140936359
|
0.00014
|
NM_002294.3(LAMP2):c.591G>A (p.Val197=)
|
rs201030806
|
0.00014
|
NM_002294.3(LAMP2):c.1093+2544A>G
|
rs777128122
|
0.00009
|
NM_002294.3(LAMP2):c.157C>T (p.Arg53Cys)
|
rs752321157
|
0.00009
|
NM_002294.3(LAMP2):c.769A>G (p.Asn257Asp)
|
rs369032377
|
0.00009
|
NM_002294.3(LAMP2):c.*2794T>C
|
rs368937075
|
0.00008
|
NM_002294.3(LAMP2):c.1093+2590G>A
|
rs1014291449
|
0.00007
|
NM_002294.3(LAMP2):c.515T>C (p.Leu172Pro)
|
rs371174243
|
0.00007
|
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser)
|
rs397516747
|
0.00007
|
NM_002294.3(LAMP2):c.1094-4C>T
|
rs768756537
|
0.00006
|
NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser)
|
rs766491800
|
0.00006
|
NM_002294.3(LAMP2):c.771T>C (p.Asn257=)
|
rs138435481
|
0.00005
|
NM_002294.3(LAMP2):c.-7C>T
|
rs762305947
|
0.00004
|
NM_002294.3(LAMP2):c.1093+2589C>T
|
rs377303143
|
0.00004
|
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val)
|
rs397516741
|
0.00004
|
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile)
|
rs141574558
|
0.00004
|
NM_002294.3(LAMP2):c.65-13T>A
|
rs727503121
|
0.00004
|
NM_002294.3(LAMP2):c.929-5T>C
|
rs375341409
|
0.00004
|
NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln)
|
rs766962315
|
0.00003
|
NM_002294.3(LAMP2):c.204C>G (p.Asp68Glu)
|
rs376215728
|
0.00003
|
NM_002294.3(LAMP2):c.276C>T (p.Phe92=)
|
rs754577706
|
0.00003
|
NM_002294.3(LAMP2):c.320C>G (p.Ser107Cys)
|
rs730880497
|
0.00003
|
NM_002294.3(LAMP2):c.398-3T>C
|
rs1045629648
|
0.00003
|
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala)
|
rs138374063
|
0.00003
|
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val)
|
rs1362738445
|
0.00003
|
NM_002294.3(LAMP2):c.64+20C>G
|
rs1346805727
|
0.00003
|
NM_002294.3(LAMP2):c.65-12A>T
|
rs730880474
|
0.00003
|
NM_002294.3(LAMP2):c.65-20A>T
|
rs773064698
|
0.00003
|
NM_002294.3(LAMP2):c.929-29A>G
|
rs773549757
|
0.00003
|
NM_002294.3(LAMP2):c.-39C>T
|
rs778851681
|
0.00002
|
NM_002294.3(LAMP2):c.183T>C (p.Tyr61=)
|
rs397516736
|
0.00002
|
NM_002294.3(LAMP2):c.340G>A (p.Val114Ile)
|
rs377652722
|
0.00002
|
NM_002294.3(LAMP2):c.74G>A (p.Arg25Gln)
|
rs750118236
|
0.00002
|
NM_002294.3(LAMP2):c.797G>A (p.Arg266His)
|
rs200934351
|
0.00002
|
NM_002294.3(LAMP2):c.-27C>T
|
rs587781015
|
0.00001
|
NM_002294.3(LAMP2):c.-38G>C
|
rs1354020682
|
0.00001
|
NM_002294.3(LAMP2):c.-42T>C
|
rs1357782623
|
0.00001
|
NM_002294.3(LAMP2):c.1139C>T (p.Ala380Val)
|
rs747301460
|
0.00001
|
NM_002294.3(LAMP2):c.1191T>C (p.Phe397=)
|
rs752231323
|
0.00001
|
NM_002294.3(LAMP2):c.253G>A (p.Gly85Ser)
|
rs371149731
|
0.00001
|
NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys)
|
rs104894857
|
0.00001
|
NM_002294.3(LAMP2):c.605A>C (p.His202Pro)
|
rs730880475
|
0.00001
|
NM_002294.3(LAMP2):c.64+16C>G
|
rs780307352
|
0.00001
|
NM_002294.3(LAMP2):c.805A>G (p.Thr269Ala)
|
rs1131691290
|
0.00001
|
NM_002294.3(LAMP2):c.865-9T>C
|
rs1057522838
|
0.00001
|
NM_002294.3(LAMP2):c.972C>G (p.Pro324=)
|
rs1229203142
|
0.00001
|
NC_000023.11:g.120469369G>A
|
rs1016964993
|
|
NC_000023.11:g.120469521del
|
rs60468300
|
|
NC_000023.11:g.120469521dup
|
rs60468300
|
|
NM_001122606.1(LAMP2):c.1094-549AT[11]
|
rs753399289
|
|
NM_002294.3(LAMP2):c.*1243A>G
|
rs147825361
|
|
NM_002294.3(LAMP2):c.*1993_*2034del
|
rs372028662
|
|
NM_002294.3(LAMP2):c.*2136GT[7]
|
rs1556075606
|
|
NM_002294.3(LAMP2):c.*2147_*2148insGTATAT
|
rs778330920
|
|
NM_002294.3(LAMP2):c.*2148AT[9]
|
rs753399289
|
|
NM_002294.3(LAMP2):c.*2213TATATATACACA[1]
|
rs200167553
|
|
NM_002294.3(LAMP2):c.*3031dup
|
rs113549733
|
|
NM_002294.3(LAMP2):c.*3347GTTA[1]
|
rs764018077
|
|
NM_002294.3(LAMP2):c.*33A>G
|
rs745798436
|
|
NM_002294.3(LAMP2):c.*3459GTT[3]
|
rs199705754
|
|
NM_002294.3(LAMP2):c.-26_-15dup
|
rs1556124241
|
|
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]
|
rs193922648
|
|
NM_002294.3(LAMP2):c.-32GTCGCCGCC[3]
|
rs193922648
|
|
NM_002294.3(LAMP2):c.-43G>T
|
rs2147295007
|
|
NM_002294.3(LAMP2):c.-4G>C
|
rs200297370
|
|
NM_002294.3(LAMP2):c.1040C>G (p.Thr347Ser)
|
rs730880487
|
|
NM_002294.3(LAMP2):c.1075C>T (p.Gln359Ter)
|
rs1057517940
|
|
NM_002294.3(LAMP2):c.1084T>C (p.Tyr362His)
|
|
|
NM_002294.3(LAMP2):c.1093+17C>T
|
rs1057521759
|
|
NM_002294.3(LAMP2):c.1093+1G>A
|
rs727504742
|
|
NM_002294.3(LAMP2):c.1093+2230_1093+2233del
|
rs68126940
|
|
NM_002294.3(LAMP2):c.1093+2434C>T
|
rs2147277547
|
|
NM_002294.3(LAMP2):c.1093+2461A>G
|
|
|
NM_002294.3(LAMP2):c.1093+2527C>T
|
rs2147277471
|
|
NM_002294.3(LAMP2):c.1093+2581A>G
|
|
|
NM_002294.3(LAMP2):c.1093+9C>G
|
rs371259269
|
|
NM_002294.3(LAMP2):c.1094-1G>A
|
rs1331940434
|
|
NM_002294.3(LAMP2):c.1114GAC[1] (p.Asp373del)
|
rs730880494
|
|
NM_002294.3(LAMP2):c.1142_1156dup (p.Val381_Leu385dup)
|
rs2147273190
|
|
NM_002294.3(LAMP2):c.150C>T (p.Phe50=)
|
rs1057521701
|
|
NM_002294.3(LAMP2):c.181del (p.Tyr61fs)
|
rs2147287579
|
|
NM_002294.3(LAMP2):c.183+3A>T
|
rs2147287563
|
|
NM_002294.3(LAMP2):c.183+5G>A
|
rs730880479
|
|
NM_002294.3(LAMP2):c.184-1G>T
|
rs1064796635
|
|
NM_002294.3(LAMP2):c.237T>G (p.Cys79Trp)
|
rs2147286906
|
|
NM_002294.3(LAMP2):c.23C>G (p.Pro8Arg)
|
rs878854484
|
|
NM_002294.3(LAMP2):c.260A>C (p.Lys87Thr)
|
rs1556112678
|
|
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter)
|
rs397516740
|
|
NM_002294.3(LAMP2):c.316G>T (p.Ala106Ser)
|
rs1305798857
|
|
NM_002294.3(LAMP2):c.339C>G (p.Ser113Arg)
|
rs147369153
|
|
NM_002294.3(LAMP2):c.364G>A (p.Asp122Asn)
|
rs730880480
|
|
NM_002294.3(LAMP2):c.379C>T (p.Pro127Ser)
|
rs2147286737
|
|
NM_002294.3(LAMP2):c.380C>T (p.Pro127Leu)
|
rs1200950486
|
|
NM_002294.3(LAMP2):c.398-4A>G
|
rs1057523043
|
|
NM_002294.3(LAMP2):c.458G>T (p.Cys153Phe)
|
rs2058610425
|
|
NM_002294.3(LAMP2):c.459C>G (p.Cys153Trp)
|
rs2147283067
|
|
NM_002294.3(LAMP2):c.467T>C (p.Leu156Ser)
|
rs1385890053
|
|
NM_002294.3(LAMP2):c.557-128dup
|
rs775935754
|
|
NM_002294.3(LAMP2):c.557-251G>T
|
rs148242561
|
|
NM_002294.3(LAMP2):c.584_588dup (p.Val197fs)
|
rs730880492
|
|
NM_002294.3(LAMP2):c.64+2T>A
|
rs730880490
|
|
NM_002294.3(LAMP2):c.65-1G>C
|
rs730880496
|
|
NM_002294.3(LAMP2):c.65-3C>T
|
rs769801659
|
|
NM_002294.3(LAMP2):c.651dup (p.Pro218fs)
|
rs730880493
|
|
NM_002294.3(LAMP2):c.659dup (p.Gly221fs)
|
rs1556101640
|
|
NM_002294.3(LAMP2):c.715C>G (p.Leu239Val)
|
rs730880481
|
|
NM_002294.3(LAMP2):c.718C>T (p.Gln240Ter)
|
rs1556101420
|
|
NM_002294.3(LAMP2):c.71T>C (p.Val24Ala)
|
|
|
NM_002294.3(LAMP2):c.741+112GTTT[5]
|
rs368190024
|
|
NM_002294.3(LAMP2):c.742-16TCT[2]
|
rs730880476
|
|
NM_002294.3(LAMP2):c.742-201dup
|
rs374381929
|
|
NM_002294.3(LAMP2):c.742-7_742-5del
|
rs779710402
|
|
NM_002294.3(LAMP2):c.773C>G (p.Thr258Arg)
|
rs111703410
|
|
NM_002294.3(LAMP2):c.795C>A (p.Cys265Ter)
|
rs730880483
|
|
NM_002294.3(LAMP2):c.815T>C (p.Leu272Pro)
|
rs1569369217
|
|
NM_002294.3(LAMP2):c.864+1G>A
|
rs727503119
|
|
NM_002294.3(LAMP2):c.864+1G>T
|
rs727503119
|
|
NM_002294.3(LAMP2):c.864+2T>C
|
rs730880485
|
|
NM_002294.3(LAMP2):c.864+3_864+6del
|
rs397516751
|
|
NM_002294.3(LAMP2):c.865-13C>T
|
rs760238519
|
|
NM_002294.3(LAMP2):c.865-311G>T
|
rs185635351
|
|
NM_002294.3(LAMP2):c.865-8del
|
rs746330494
|
|
NM_002294.3(LAMP2):c.877C>A (p.Arg293=)
|
rs727503118
|
|
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter)
|
rs727503118
|
|
NM_002294.3(LAMP2):c.887T>C (p.Leu296Pro)
|
rs730880486
|
|
NM_002294.3(LAMP2):c.8G>A (p.Cys3Tyr)
|
rs730880489
|
|
NM_002294.3(LAMP2):c.907A>G (p.Met303Val)
|
rs768369360
|
|
NM_002294.3(LAMP2):c.910T>C (p.Tyr304His)
|
rs2147279498
|
|
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile)
|
rs104894858
|
|
NM_002294.3(LAMP2):c.929-2A>G
|
rs1556092556
|
|
NM_002294.3(LAMP2):c.974del (p.Leu325fs)
|
rs730880498
|
|
NM_002294.3(LAMP2):c.98T>A (p.Leu33Ter)
|
rs2147287668
|
|
NM_013995.2(LAMP2):c.-135G>C
|
rs181118176
|
|
NM_013995.2(LAMP2):c.-168del
|
rs760941179
|
|
NM_013995.2(LAMP2):c.344C>A (p.Ser115Ter)
|
rs950725039
|
|