NM_020117.11(LARS1):c.1877+63T>C
|
rs2962504
|
0.98717
|
NM_020117.11(LARS1):c.772-177G>A
|
rs2962507
|
0.96747
|
NM_020117.11(LARS1):c.1066-243T>A
|
rs2962505
|
0.96745
|
NM_020117.11(LARS1):c.1504-242T>C
|
rs2939521
|
0.96539
|
NM_020117.11(LARS1):c.2213-307C>G
|
rs2962500
|
0.96247
|
NM_020117.11(LARS1):c.125+62A>T
|
rs2963907
|
0.76300
|
NM_020117.11(LARS1):c.708-226C>G
|
rs2939536
|
0.73765
|
NM_020117.11(LARS1):c.2149-152G>A
|
rs2963919
|
0.65668
|
NM_020117.11(LARS1):c.126-205A>G
|
rs2962511
|
0.64688
|
NM_020117.11(LARS1):c.594+294C>T
|
rs2962509
|
0.64667
|
NM_020117.11(LARS1):c.125+60A>T
|
rs59335759
|
0.54784
|
NM_020117.11(LARS1):c.1231-69A>G
|
rs17500483
|
0.31477
|
NM_020117.11(LARS1):c.125+124C>T
|
rs4443471
|
0.23675
|
NM_020117.11(LARS1):c.2094C>T (p.Asp698=)
|
rs17493851
|
0.22623
|
NM_020117.11(LARS1):c.708-306A>C
|
rs62373789
|
0.22614
|
NM_020117.11(LARS1):c.495C>T (p.Gly165=)
|
rs3763373
|
0.22605
|
NC_000005.10:g.146182788A>G
|
rs17428647
|
0.22471
|
NM_020117.11(LARS1):c.3263G>A (p.Arg1088Lys)
|
rs10988
|
0.22458
|
NM_020117.11(LARS1):c.3193-91T>C
|
rs11167931
|
0.22449
|
NM_020117.11(LARS1):c.1230+169A>G
|
rs34090359
|
0.22396
|
NM_020117.11(LARS1):c.1504-241G>A
|
rs2400211
|
0.22297
|
NM_020117.11(LARS1):c.2149-119G>A
|
rs12153109
|
0.22256
|
NM_020117.11(LARS1):c.-87C>T
|
rs11540215
|
0.22254
|
NM_020117.11(LARS1):c.7-160G>C
|
rs11949351
|
0.22252
|
NM_020117.11(LARS1):c.648A>C (p.Ser216=)
|
rs11540214
|
0.22247
|
NM_020117.11(LARS1):c.771+46A>T
|
rs13178516
|
0.22247
|
NM_020117.11(LARS1):c.2148+164G>A
|
rs67598659
|
0.22237
|
NC_000005.10:g.146182719G>T
|
rs13186701
|
0.22235
|
NM_020117.11(LARS1):c.1153+38A>T
|
rs34342344
|
0.22235
|
NM_020117.11(LARS1):c.125+366T>C
|
rs4413574
|
0.22235
|
NM_020117.11(LARS1):c.294+292G>T
|
rs3828935
|
0.22235
|
NM_020117.11(LARS1):c.1747C>T (p.Leu583=)
|
rs11540217
|
0.22234
|
NM_020117.11(LARS1):c.213+263T>C
|
rs11952228
|
0.22234
|
NM_020117.11(LARS1):c.708-90A>T
|
rs13182567
|
0.22234
|
NM_020117.11(LARS1):c.2881-140G>A
|
rs1395277
|
0.22233
|
NM_020117.11(LARS1):c.772-209A>G
|
rs17428570
|
0.22233
|
NC_000005.10:g.146183002G>A
|
rs17428724
|
0.22232
|
NM_020117.11(LARS1):c.708-189A>G
|
rs67986716
|
0.22231
|
NM_020117.11(LARS1):c.2091-124G>A
|
rs11951553
|
0.22229
|
NM_020117.11(LARS1):c.2628+8C>T
|
rs11953517
|
0.22221
|
NM_020117.11(LARS1):c.1231-137A>G
|
rs17428465
|
0.22219
|
NM_020117.11(LARS1):c.1426-294T>C
|
rs2292173
|
0.22218
|
NM_020117.11(LARS1):c.2775T>C (p.Thr925=)
|
rs2895647
|
0.22218
|
NM_020117.11(LARS1):c.1065+324T>C
|
rs13180113
|
0.22216
|
NM_020117.11(LARS1):c.2397-134T>C
|
rs35424128
|
0.22215
|
NM_020117.11(LARS1):c.1231-86T>C
|
rs17500504
|
0.22176
|
NM_020117.11(LARS1):c.2091-313T>C
|
rs11955635
|
0.22164
|
NM_020117.11(LARS1):c.2674A>G (p.Asn892Asp)
|
rs61732383
|
0.22162
|
NM_020117.11(LARS1):c.2673T>G (p.Val891=)
|
rs61732382
|
0.22142
|
NM_020117.11(LARS1):c.2769+84A>G
|
rs2895648
|
0.22113
|
NM_020117.11(LARS1):c.2769+70A>G
|
rs2895649
|
0.22112
|
NM_020117.11(LARS1):c.2148+190G>C
|
rs76304107
|
0.12068
|
NM_020117.11(LARS1):c.2880+334A>G
|
rs17104264
|
0.09330
|
NM_020117.11(LARS1):c.595-326T>C
|
rs66891285
|
0.09317
|
NM_020117.11(LARS1):c.594+39_594+52dup
|
rs140904487
|
0.09245
|
NM_020117.11(LARS1):c.3193-35C>G
|
rs17104250
|
0.09058
|
NM_020117.11(LARS1):c.2488-7T>G
|
rs17104268
|
0.06292
|
NM_020117.11(LARS1):c.771+142G>A
|
rs72822274
|
0.06254
|
NM_020117.11(LARS1):c.2396+304A>G
|
rs72822208
|
0.06253
|
NM_020117.11(LARS1):c.2628+201C>T
|
rs17104266
|
0.06252
|
NM_020117.11(LARS1):c.1230+61_1230+64dup
|
rs150034157
|
0.06251
|
NM_020117.11(LARS1):c.295-11A>G
|
rs72822293
|
0.06250
|
NM_020117.11(LARS1):c.2889C>T (p.Asn963=)
|
rs11540216
|
0.06243
|
NM_020117.11(LARS1):c.1877+49T>G
|
rs17104276
|
0.06176
|
NM_020117.11(LARS1):c.3326-210C>G
|
rs116780433
|
0.05598
|
NM_020117.11(LARS1):c.125+58A>T
|
rs1227525890
|
0.05364
|
NM_020117.11(LARS1):c.3193-328A>G
|
rs74510329
|
0.03749
|
NM_020117.11(LARS1):c.2992-309del
|
rs140480850
|
0.03489
|
NM_020117.11(LARS1):c.3326-194C>T
|
rs113015845
|
0.03485
|
NM_020117.11(LARS1):c.354A>G (p.Pro118=)
|
rs73317824
|
0.03174
|
NM_020117.11(LARS1):c.1065+58A>G
|
rs58508858
|
0.03171
|
NM_020117.11(LARS1):c.3097-179C>T
|
rs73315733
|
0.03170
|
NM_020117.11(LARS1):c.7-301G>A
|
rs56013882
|
0.03163
|
NM_020117.11(LARS1):c.1425+194A>G
|
rs56791671
|
0.03065
|
NM_020117.11(LARS1):c.2629-10T>C
|
rs181728560
|
0.02386
|
NM_020117.11(LARS1):c.432+254G>A
|
rs184592133
|
0.02378
|
NM_020117.11(LARS1):c.125+132C>T
|
rs188961770
|
0.02364
|
NM_020117.11(LARS1):c.2487+219G>A
|
rs114406964
|
0.02262
|
NM_020117.11(LARS1):c.3325+157G>C
|
rs73315731
|
0.01660
|
NM_020117.11(LARS1):c.2091-90A>T
|
rs73315769
|
0.01650
|
NM_020117.11(LARS1):c.1692C>T (p.Thr564=)
|
rs114307562
|
0.01194
|
NM_020117.11(LARS1):c.840-31T>C
|
rs75701034
|
0.01192
|
NM_020117.11(LARS1):c.1284+290A>G
|
rs140643050
|
0.01167
|
NM_020117.11(LARS1):c.1066-164A>G
|
rs73315788
|
0.01111
|
NM_020117.11(LARS1):c.2148+205C>T
|
rs142828262
|
0.01105
|
NM_020117.11(LARS1):c.2817T>C (p.Tyr939=)
|
rs141727672
|
0.01041
|
NM_020117.11(LARS1):c.2148+298A>G
|
rs148699941
|
0.00980
|
NM_020117.11(LARS1):c.2487+174G>A
|
rs115245364
|
0.00832
|
NM_020117.11(LARS1):c.1066-262A>G
|
rs77469247
|
0.00707
|
NM_020117.11(LARS1):c.2212+13T>C
|
rs114726414
|
0.00678
|
NM_020117.11(LARS1):c.771+265T>C
|
rs149314460
|
0.00658
|
NM_020117.11(LARS1):c.2991+76C>T
|
rs146598416
|
0.00573
|
NM_020117.11(LARS1):c.*147T>G
|
rs148479269
|
0.00570
|
NM_020117.11(LARS1):c.1284+91T>C
|
rs190538173
|
0.00516
|
NM_020117.11(LARS1):c.3192+217T>G
|
rs147044022
|
0.00483
|
NM_020117.11(LARS1):c.3192+279A>G
|
rs115323323
|
0.00408
|
NM_020117.11(LARS1):c.2666G>A (p.Gly889Asp)
|
rs150148403
|
0.00403
|
NM_020117.11(LARS1):c.2578G>A (p.Ala860Thr)
|
rs112912805
|
0.00377
|
NM_020117.11(LARS1):c.245A>G (p.Lys82Arg)
|
rs112954500
|
0.00374
|
NM_020117.11(LARS1):c.3077A>G (p.Tyr1026Cys)
|
rs34823161
|
0.00369
|
NM_020117.11(LARS1):c.2091-273C>T
|
rs140452772
|
0.00361
|
NM_020117.11(LARS1):c.125+110C>T
|
rs372545309
|
0.00342
|
NM_020117.11(LARS1):c.125+114A>T
|
rs548368692
|
0.00342
|
NM_020117.11(LARS1):c.771+27A>G
|
rs72822275
|
0.00293
|
NM_020117.11(LARS1):c.2880+6G>T
|
rs148025694
|
0.00290
|
NM_020117.11(LARS1):c.294+8C>T
|
rs188699530
|
0.00270
|
NM_020117.11(LARS1):c.2090+144A>G
|
rs184701837
|
0.00266
|
NM_020117.11(LARS1):c.2487+44G>A
|
rs142402814
|
0.00263
|
NM_020117.11(LARS1):c.839+21G>T
|
rs114841511
|
0.00231
|
NM_020117.11(LARS1):c.595-19T>C
|
rs144307734
|
0.00230
|
NM_020117.11(LARS1):c.126-9G>T
|
rs181291967
|
0.00225
|
NM_020117.11(LARS1):c.3193-18T>G
|
rs144388953
|
0.00220
|
NM_020117.11(LARS1):c.433-12C>T
|
rs76839811
|
0.00176
|
NM_020117.11(LARS1):c.1504-4T>G
|
rs59700447
|
0.00131
|
NM_020117.11(LARS1):c.3336A>G (p.Lys1112=)
|
rs141790396
|
0.00121
|
NM_020117.11(LARS1):c.1656-8T>C
|
rs373546480
|
0.00115
|
NM_020117.11(LARS1):c.2769+14G>T
|
rs531785197
|
0.00092
|
NM_020117.11(LARS1):c.2628+27G>A
|
rs143025329
|
0.00081
|
NM_020117.11(LARS1):c.1231-14A>G
|
rs199763272
|
0.00063
|
NM_020117.11(LARS1):c.1284+9A>G
|
rs372974596
|
0.00061
|
NM_020117.11(LARS1):c.1285-25C>T
|
rs115637173
|
0.00052
|
NM_020117.11(LARS1):c.294+38G>C
|
rs3812244
|
0.00052
|
NM_020117.11(LARS1):c.1500C>T (p.Asp500=)
|
rs139648263
|
0.00051
|
NM_020117.11(LARS1):c.294+9G>A
|
rs375149812
|
0.00050
|
NM_020117.11(LARS1):c.3097-11C>T
|
rs201352065
|
0.00042
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
NM_020117.11(LARS1):c.1369C>T (p.Arg457Trp)
|
rs151245897
|
0.00041
|
NM_020117.11(LARS1):c.1589+18A>G
|
rs374629631
|
0.00028
|
NM_020117.11(LARS1):c.1285-6C>T
|
rs141942986
|
0.00017
|
NM_020117.11(LARS1):c.1182C>T (p.Ser394=)
|
rs367858308
|
0.00016
|
NM_020117.11(LARS1):c.1248T>C (p.Tyr416=)
|
rs147682879
|
0.00012
|
NM_020117.11(LARS1):c.2539C>G (p.Leu847Val)
|
rs187036851
|
0.00012
|
NM_020117.11(LARS1):c.3409G>A (p.Glu1137Lys)
|
rs201386463
|
0.00011
|
NM_020117.11(LARS1):c.433-11A>G
|
rs367618230
|
0.00011
|
NM_020117.11(LARS1):c.1648C>T (p.Leu550=)
|
rs146199705
|
0.00010
|
NM_020117.11(LARS1):c.1860G>A (p.Glu620=)
|
rs146906828
|
0.00010
|
NM_020117.11(LARS1):c.3090G>A (p.Ser1030=)
|
rs199688556
|
0.00010
|
NM_020117.11(LARS1):c.3126C>T (p.Ser1042=)
|
rs748343914
|
0.00010
|
NM_020117.11(LARS1):c.1655+6A>G
|
rs373591577
|
0.00009
|
NM_020117.11(LARS1):c.2149-16T>C
|
rs371035009
|
0.00009
|
NM_020117.11(LARS1):c.2770-2A>G
|
rs139456270
|
0.00009
|
NM_020117.11(LARS1):c.3097-10G>A
|
rs534430761
|
0.00009
|
NM_020117.11(LARS1):c.954G>A (p.Thr318=)
|
rs200913317
|
0.00009
|
NM_020117.11(LARS1):c.2770-6G>A
|
rs373663096
|
0.00006
|
NM_020117.11(LARS1):c.2816A>G (p.Tyr939Cys)
|
rs757195926
|
0.00006
|
NM_020117.11(LARS1):c.3205G>A (p.Val1069Ile)
|
rs777624825
|
0.00006
|
NM_020117.11(LARS1):c.3326-3T>C
|
rs749698974
|
0.00006
|
NM_020117.11(LARS1):c.798A>G (p.Leu266=)
|
rs149426195
|
0.00006
|
NM_020117.11(LARS1):c.2769+7T>A
|
rs201994812
|
0.00005
|
NM_020117.11(LARS1):c.1731T>C (p.Tyr577=)
|
rs763520931
|
0.00004
|
NM_020117.11(LARS1):c.2014G>A (p.Val672Ile)
|
rs368776216
|
0.00004
|
NM_020117.11(LARS1):c.2915T>C (p.Ile972Thr)
|
rs377245038
|
0.00004
|
NM_020117.11(LARS1):c.3504C>T (p.Gly1168=)
|
rs201583773
|
0.00004
|
NM_020117.11(LARS1):c.1183G>A (p.Asp395Asn)
|
rs762386770
|
0.00003
|
NM_020117.11(LARS1):c.1545G>A (p.Met515Ile)
|
rs863224045
|
0.00003
|
NM_020117.11(LARS1):c.1738+15A>G
|
rs370031023
|
0.00003
|
NM_020117.11(LARS1):c.2396+18A>G
|
rs1186530205
|
0.00003
|
NM_020117.11(LARS1):c.2515G>A (p.Ala839Thr)
|
rs751652832
|
0.00003
|
NM_020117.11(LARS1):c.1188C>T (p.Ser396=)
|
rs1299324954
|
0.00001
|
NM_020117.11(LARS1):c.1284G>A (p.Pro428=)
|
rs778961690
|
0.00001
|
NM_020117.11(LARS1):c.1285-11G>A
|
rs769361368
|
0.00001
|
NM_020117.11(LARS1):c.219T>C (p.Ala73=)
|
rs758912469
|
0.00001
|
NM_020117.11(LARS1):c.2208A>G (p.Ala736=)
|
rs761993281
|
0.00001
|
NM_020117.11(LARS1):c.2629-13C>G
|
rs199826165
|
0.00001
|
NM_020117.11(LARS1):c.2885A>G (p.Asn962Ser)
|
rs762913390
|
0.00001
|
NM_020117.11(LARS1):c.2889del (p.Asn963fs)
|
rs1473633538
|
0.00001
|
NM_020117.11(LARS1):c.3289A>G (p.Ile1097Val)
|
rs745902477
|
0.00001
|
NM_020117.11(LARS1):c.725C>T (p.Pro242Leu)
|
rs749542896
|
0.00001
|
NM_020117.11(LARS1):c.801C>A (p.Leu267=)
|
rs1057522771
|
0.00001
|
NM_020117.11(LARS1):c.840-5dup
|
rs768823964
|
0.00001
|
NC_000005.10:g.146182863C>A
|
rs73317848
|
|
NM_020117.11(LARS1):c.1065+12A>G
|
rs1057522745
|
|
NM_020117.11(LARS1):c.1065+149A>G
|
rs151081054
|
|
NM_020117.11(LARS1):c.1110G>T (p.Lys370Asn)
|
|
|
NM_020117.11(LARS1):c.1230+157del
|
rs200902839
|
|
NM_020117.11(LARS1):c.1230+172dup
|
rs57378167
|
|
NM_020117.11(LARS1):c.125+63_125+64dup
|
rs10650026
|
|
NM_020117.11(LARS1):c.125+63_125+65dup
|
rs10650026
|
|
NM_020117.11(LARS1):c.125+63_125+66dup
|
rs10650026
|
|
NM_020117.11(LARS1):c.125+63_125+68dup
|
rs10650026
|
|
NM_020117.11(LARS1):c.125+63dup
|
rs10650026
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NM_020117.11(LARS1):c.126-17A>G
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rs748372946
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NM_020117.11(LARS1):c.1287G>C (p.Val429=)
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rs1033362535
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NM_020117.11(LARS1):c.1306G>A (p.Gly436Ser)
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rs1057523128
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NM_020117.11(LARS1):c.137_141del (p.Tyr46fs)
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rs863224047
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NM_020117.11(LARS1):c.1426-170_1426-167del
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rs139601673
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NM_020117.11(LARS1):c.1504-129C>G
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rs13161075
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NM_020117.11(LARS1):c.1504-275del
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rs975154608
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NM_020117.11(LARS1):c.1726A>G (p.Thr576Ala)
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NM_020117.11(LARS1):c.1739-223A>C
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rs149561471
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NM_020117.11(LARS1):c.1878-41TA[10]
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rs3840516
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NM_020117.11(LARS1):c.1878-41TA[8]
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rs3840516
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NM_020117.11(LARS1):c.1899A>C (p.Glu633Asp)
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NM_020117.11(LARS1):c.1922A>C (p.Lys641Thr)
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NM_020117.11(LARS1):c.1923G>A (p.Lys641=)
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rs781026136
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NM_020117.11(LARS1):c.1953A>G (p.Ala651=)
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rs756618995
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NM_020117.11(LARS1):c.1961A>C (p.Lys654Thr)
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NM_020117.11(LARS1):c.214-17del
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rs142668585
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NM_020117.11(LARS1):c.2148+98G>A
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rs562191068
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NM_020117.11(LARS1):c.2149-131C>A
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rs7734517
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NM_020117.11(LARS1):c.2295C>T (p.Leu765=)
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rs1554127663
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NM_020117.11(LARS1):c.2391dup (p.Ala798fs)
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|
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NM_020117.11(LARS1):c.2396+71C>G
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rs35869904
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NM_020117.11(LARS1):c.2396+81_2396+82del
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rs202210415
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NM_020117.11(LARS1):c.2396+93del
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rs11321164
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NM_020117.11(LARS1):c.2397-190C>T
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rs73315752
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NM_020117.11(LARS1):c.2487+5G>A
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rs863224046
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NM_020117.11(LARS1):c.2628+304_2628+313del
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rs72226576
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NM_020117.11(LARS1):c.2629-13_2629-8del
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rs67107752
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NM_020117.11(LARS1):c.2769+15dup
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rs747958835
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NM_020117.11(LARS1):c.2880+173_2880+187del
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rs11467105
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NM_020117.11(LARS1):c.2881-39dup
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rs200980777
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NM_020117.11(LARS1):c.294+58C>G
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rs73317828
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NM_020117.11(LARS1):c.3061A>C (p.Met1021Leu)
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NM_020117.11(LARS1):c.3064G>C (p.Glu1022Gln)
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rs1057523129
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NM_020117.11(LARS1):c.3097-196C>G
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rs73315734
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NM_020117.11(LARS1):c.3116A>G (p.Lys1039Arg)
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NM_020117.11(LARS1):c.3192+204del
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rs200637592
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NM_020117.11(LARS1):c.3314G>A (p.Arg1105Gln)
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|
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NM_020117.11(LARS1):c.3325+82C>G
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rs112894446
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NM_020117.11(LARS1):c.594+211TAT[2]
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rs140492299
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NM_020117.11(LARS1):c.595-168_595-165dup
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rs67449817
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NM_020117.11(LARS1):c.595-170G>T
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rs182801361
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NM_020117.11(LARS1):c.604C>T (p.Arg202Cys)
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rs764070641
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NM_020117.11(LARS1):c.707+315_707+317del
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rs202235327
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NM_020117.11(LARS1):c.745A>G (p.Met249Val)
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NM_020117.11(LARS1):c.748G>A (p.Asp250Asn)
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