390406
chr16:75661649:T>A
KARS
NM_005548:c.*144A>T
THREE_PRIME_EXON
Unknown significance
rs533064131
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
390407
chr16:75661702:G>A
KARS
NM_005548:c.*91C>T
THREE_PRIME_EXON
Benign
rs527236481
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
0
1006
0
0
694
0
0
1008
0
12
978
0.0123
12
5008
0.00239617
390408
chr16:75661734:C>T
KARS
NM_005548:c.*59G>A
THREE_PRIME_EXON
Benign
rs11505
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
67
1322
0.0507
0
1006
0
2
694
0.0029
0
1008
0
0
978
0
69
5008
0.013778
390410
chr16:75661754:C>G
KARS
NM_005548:c.*39G>C
THREE_PRIME_EXON
Unknown significance
rs751510371
This variant is a VUS because it does not have enough information.
0
10334
0
0
11532
0
0
8644
0
0
6596
0
1
66536
0.0000150295
0
906
0
0
16510
0
1
121058
0.0000082605
390409
chr16:75661754:CAAAGACGC>-
KARS
NM_005548:c.*39_*49delGCGTCTTTG
THREE_PRIME_EXON
Unknown significance
rs759971006
This variant is a VUS because it does not have enough information.
0
10332
0
1
11534
0.0000867002
0
8644
0
0
6596
0
0
66534
0
0
906
0
0
16510
0
1
121056
0.00000826064
390411
chr16:75661755:A>G
KARS
NM_005548:c.*38T>C
THREE_PRIME_EXON
Unknown significance
rs1802511
This variant is a VUS because it does not have enough information.
390412
chr16:75661757:A>C
KARS
NM_005548:c.*36T>G
THREE_PRIME_EXON
Unknown significance
rs757209685
This variant is a VUS because it does not have enough information.
0
10340
0
0
11540
0
0
8646
0
0
6598
0
2
66572
0.0000300427
0
906
0
0
16510
0
2
121112
0.0000165136
390414
chr16:75661760:C>G
KARS
NM_005548:c.*33G>C
THREE_PRIME_EXON
Unknown significance
rs111679674
This variant is a VUS because it does not have enough information.
390413
chr16:75661760:C>T
KARS
NM_005548:c.*33G>A
THREE_PRIME_EXON
Benign
rs111679674
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
87
8600
0.0101163
6
4396
0.00136488
93
12996
0.00715605
1
1322
0.0008
21
1006
0.0209
3
694
0.0043
1
1008
0.001
1
978
0.001
27
5008
0.00539137
15
10346
0.00144984
37
11536
0.00320735
0
8648
0
231
6600
0.035
738
66584
0.0110837
17
906
0.0187638
34
16510
0.00205936
1072
121130
0.00885
390415
chr16:75661761:G>A
KARS
NM_005548:c.*32C>T
THREE_PRIME_EXON
Unknown significance
rs750234986
This variant is a VUS because it does not have enough information.
0
10346
0
0
11542
0
0
8650
0
0
6600
0
1
66600
0.000015015
0
906
0
0
16510
0
1
121154
0.00000825396
390416
chr16:75661763:CT>-
KARS
NM_005548:c.*30_*33delAG
THREE_PRIME_EXON
Unknown significance
rs767901895
This variant is a VUS because it does not have enough information.
390418
chr16:75661767:G>A
KARS
NM_005548:c.*26C>T
THREE_PRIME_EXON
Unknown significance
rs78654839
This variant is a VUS because it does not have enough information.
0
10356
0
0
11544
0
0
8654
0
0
6602
0
0
66628
0
0
906
0
4
16510
0.000242277
4
121200
0.0000330033
390417
chr16:75661767:G>C
KARS
NM_005548:c.*26C>G
THREE_PRIME_EXON
Benign
rs78654839
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
80
8600
0.00930233
6
4396
0.00136488
86
12996
0.00661742
0
1322
0
21
1006
0.0209
3
694
0.0043
0
1008
0
0
978
0
24
5008
0.00479233
15
10356
0.00144844
37
11544
0.00320513
0
8654
0
231
6602
0.0349894
637
66628
0.00956055
14
906
0.0154525
30
16510
0.00181708
964
121200
0.0079538
390419
chr16:75661769:->TGTA
KARS
NM_005548:c.*24_*25insTACA
THREE_PRIME_EXON
Unknown significance
rs753082472
This variant is a VUS because it does not have enough information.
390420
chr16:75661769:T>C
KARS
NM_005548:c.*24A>G
THREE_PRIME_EXON
Unknown significance
rs748316661
This variant is a VUS because it does not have enough information.
0
10360
0
0
11552
0
0
8654
0
0
6602
0
0
66642
0
0
906
0
1
16510
0.0000605694
1
121226
0.00000824906
390421
chr16:75661771:T>C
KARS
NM_005548:c.*22A>G
THREE_PRIME_EXON
Unknown significance
rs376960548
This variant is a VUS because it does not have enough information.
2
8600
0.000232558
0
4396
0
2
12996
0.000153894
0
10358
0
1
11560
0.0000865052
0
8654
0
0
6604
0
5
66646
0.0000750233
0
906
0
0
16510
0
6
121238
0.0000494894
390422
chr16:75661772:A>G
KARS
NM_005548:c.*21T>C
THREE_PRIME_EXON
Unknown significance
rs778053495
This variant is a VUS because it does not have enough information.
1
10360
0.0000965251
0
11560
0
7
8654
0.000808875
0
6604
0
0
66646
0
0
908
0
1
16510
0.0000605694
9
121242
0.0000742317
390423
chr16:75661776:C>T
KARS
NM_005548:c.*17G>A
THREE_PRIME_EXON
Unknown significance
rs747105466
This variant is a VUS because it does not have enough information.
0
10368
0
6
11566
0.000518762
0
8654
0
0
6606
0
0
66660
0
0
908
0
0
16510
0
6
121272
0.0000494756
390424
chr16:75661792:T>C
KARS
NM_005548:c.*1A>G
THREE_PRIME_EXON
Unknown significance
rs771377883
This variant is a VUS because it does not have enough information.
0
10382
0
0
11574
0
0
8654
0
0
6610
0
0
66714
0
0
908
0
4
16510
0.000242277
4
121352
0.000032962
390425
chr16:75661793:C>T
KARS
NM_005548:p.Stop598Stop
NM_005548:c.1794G>A
EXON14
Unknown significance
rs781705880
This variant is a VUS because it does not have enough information.
0
10382
0
0
11574
0
6
8654
0.000693321
0
6610
0
0
66710
0
0
908
0
0
16510
0
6
121348
0.0000494446
390426
chr16:75661798:C>-
KARS
NM_005548:c.1789delG
EXON14
Unknown significance
rs755761756
This variant is a VUS because it does not have enough information.
1
10386
0.0000962835
0
11576
0
0
8654
0
0
6612
0
0
66720
0
0
908
0
0
16510
0
1
121366
0.00000823954
390427
chr16:75661803:G>C
KARS
NM_005548:p.Thr595Ser
NM_005548:c.1784C>G
EXON14
Benign
rs6834
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
1.048
C
0.18;0.128
T
0.021;0.012
B
0.000005
D
0.999994
P;P;P
5.82
C
348
8600
0.0404651
1426
4396
0.324386
1774
12996
0.136504
472
1322
0.357
58
1006
0.0577
24
694
0.0346
8
1008
0.0079
63
978
0.0644
625
5008
0.1248
3424
10394
0.329421
302
11578
0.026084
48
8654
0.00554657
449
6614
0.0678863
2804
66728
0.0420213
61
908
0.0671806
890
16510
0.0539067
7978
121386
0.0657242
390428
chr16:75661805:G>A
KARS
NM_005548:p.Gly594Gly
NM_005548:c.1782C>T
EXON14
Benign
rs191584337
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
0
1006
0
0
694
0
5
1008
0.005
1
978
0.001
6
5008
0.00119808
0
10394
0
0
11578
0
59
8654
0.00681766
0
6614
0
1
66728
0.0000149862
1
908
0.00110132
7
16510
0.000423985
68
121386
0.000560196
390429
chr16:75661810:C>A
KARS
NM_005548:p.Val593Phe
NM_005548:c.1777G>T
EXON14
Likely benign
rs551766380
Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic.
-0.322
N
0.023;0.031
D
0.314;0.108
B
0.571428
N
1
N;N;N
-4.07
N
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
1
10396
0.0000961908
0
11578
0
0
8654
0
0
6614
0
0
66730
0
0
908
0
0
16510
0
1
121390
0.00000823791
390430
chr16:75661825:G>A
KARS
NM_005548:p.Leu588Leu
NM_005548:c.1762C>T
EXON14
Unknown significance
rs762532843
This variant is a VUS because it does not have enough information.
0
10392
0
0
11578
0
1
8654
0.000115554
0
6614
0
0
66728
0
0
908
0
0
16510
0
1
121384
0.00000823832
390431
chr16:75661827:G>-
KARS
NM_005548:c.1760delC
EXON14
Unknown significance
rs763797026
This variant is a VUS because it does not have enough information.
2
10398
0.000192345
0
11578
0
0
8654
0
0
6614
0
0
66728
0
0
908
0
0
16510
0
2
121390
0.0000164758
390432
chr16:75661827:G>T
KARS
NM_005548:p.Thr587Lys
NM_005548:c.1760C>A
EXON14
Likely benign
rs768294238
Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic.
1.048
C
0.593;0.753
T
0.009;0.126
B
0.898257
N
1
N;N;N
1.09
C
0
10394
0
0
11578
0
0
8654
0
0
6614
0
0
66728
0
0
908
0
2
16510
0.000121139
2
121386
0.0000164764
390433
chr16:75661833:G>A
KARS
NM_005548:p.Thr585Ile
NM_005548:c.1754C>T
EXON14
Unknown significance
rs549619745
This variant is a VUS because it does not have enough information.
1.048
C
0.053;0.047
T;D
0.012;0.007
B
0.854636
N
1
D;N;N
4.86
C
390434
chr16:75661835:G>C
KARS
NM_005548:p.Thr584Thr
NM_005548:c.1752C>G
EXON14
Unknown significance
rs144390077
This variant is a VUS because it does not have enough information.
0.142
N
0.0
D
1
N;N;N
-2.41
N
2
8600
0.000232558
0
4396
0
2
12996
0.000153894
0
10398
0
0
11578
0
0
8654
0
0
6614
0
2
66730
0.0000299715
0
908
0
0
16510
0
2
121392
0.0000164756
390435
chr16:75661838:T>C
KARS
NM_005548:p.Ala583Ala
NM_005548:c.1749A>G
EXON14
Unknown significance
rs761365283
This variant is a VUS because it does not have enough information.
-1.497
N
0.0
D
1
N;N;N
-10.0
N
0
10398
0
0
11578
0
1
8654
0.000115554
0
6614
0
0
66730
0
0
908
0
0
16510
0
1
121392
0.00000823778
390436
chr16:75661841:T>C
KARS
NM_005548:p.Val582Val
NM_005548:c.1746A>G
EXON14
Unknown significance
rs767379297
This variant is a VUS because it does not have enough information.
0.122
N
0.0
D
1
N;N;N
2.18
C
0
10398
0
2
11578
0.000172741
0
8654
0
0
6614
0
0
66730
0
0
908
0
0
16510
0
2
121392
0.0000164756
390437
chr16:75661842:A>G
KARS
NM_005548:p.Val582Ala
NM_005548:c.1745T>C
EXON14
Likely benign
rs750338644
Pathogenicity is based on prediction data only. 0 out of 6 predictions were pathogenic.
-0.803
N
0.954;0.931
T
0.0
B
0.993919
N
1
N;N;N
-0.949
N
1
10398
0.0000961723
0
11578
0
0
8654
0
0
6614
0
0
66730
0
0
908
0
0
16510
0
1
121392
0.00000823778
390438
chr16:75661842:A>T
KARS
NM_005548:p.Val582Glu
NM_005548:c.1745T>A
EXON14
Unknown significance
rs750338644
This variant is a VUS because it does not have enough information.
-0.803
N
0.999575
D;N;N
-0.949
N
0
10398
0
2
11578
0.000172741
0
8654
0
0
6614
0
0
66730
0
0
908
0
0
16510
0
2
121392
0.0000164756
390439
chr16:75661845:T>G
KARS
NM_005548:p.Asn581Thr
NM_005548:c.1742A>C
EXON14
Unknown significance
rs117561624
This variant is a VUS because it does not have enough information.
-0.822
N
0.0
D
1
N;N;N
-1.26
N
0
1322
0
1
1006
0.001
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
0
10400
0
0
11578
0
0
8654
0
0
6614
0
3
66730
0.0000449573
0
908
0
0
16510
0
3
121394
0.0000247129
390440
chr16:75661847:C>T
KARS
NM_005548:p.Glu580Glu
NM_005548:c.1740G>A
EXON14
Unknown significance
rs753675208
This variant is a VUS because it does not have enough information.
-0.929
N
0.0
D
1
D;N
-3.19
N
0
10398
0
0
11578
0
0
8654
0
0
6614
0
2
66730
0.0000299715
0
908
0
1
16510
0.0000605694
3
121392
0.0000247133
390441
chr16:75661850:CTT>-
KARS
NM_005548:c.1737_1741delAAG
EXON14
Unknown significance
rs753346124
This variant is a VUS because it does not have enough information.
0
10398
0
0
11578
0
0
8654
0
0
6614
0
6
66730
0.0000899146
0
908
0
0
16510
0
6
121392
0.0000494267
390442
chr16:75661852:TCTTG>-
KARS
NM_005548:c.1735_1741delCAAGA
EXON14
Unknown significance
rs756837046
This variant is a VUS because it does not have enough information.
390443
chr16:75661853:C>G
KARS
NM_005548:p.Lys578Asn
NM_005548:c.1734G>C
EXON14
Unknown significance
rs372437633
This variant is a VUS because it does not have enough information.
0.935
N
0.0
D
0.995425
D;D;N
5.82
C
2
8600
0.000232558
0
4396
0
2
12996
0.000153894
0
10398
0
0
11578
0
0
8654
0
0
6614
0
4
66718
0.0000599538
0
908
0
0
16510
0
4
121380
0.0000329544
390444
chr16:75661862:G>A
KARS
NM_005548:p.Pro575Pro
NM_005548:c.1725C>T
EXON14
Unknown significance
rs184022101
This variant is a VUS because it does not have enough information.
-0.725
N
1
D;D;D
-11.6
N
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
0
10400
0
0
11578
0
28
8654
0.0032355
0
6614
0
1
66730
0.0000149858
0
908
0
0
16510
0
29
121394
0.000238892
390445
chr16:75661863:G>C
KARS
NM_005548:p.Pro575Arg
NM_005548:c.1724C>G
EXON14
Unknown significance
rs148798578
This variant is a VUS because it does not have enough information.
1.048
C
0.0
D
0.945;0.994
P;D
0
D
1
D;D;D
5.82
C
2
8600
0.000232558
0
4396
0
2
12996
0.000153894
0
10398
0
1
11578
0.0000863707
0
8654
0
0
6614
0
2
66730
0.0000299715
0
908
0
0
16510
0
3
121392
0.0000247133
390446
chr16:75661865:T>C
KARS
NM_005548:p.Lys574Lys
NM_005548:c.1722A>G
EXON14
Unknown significance
rs757309903
This variant is a VUS because it does not have enough information.
0.144
N
0.0
D
1
D;N
2.32
C
1
10396
0.0000961908
0
11578
0
0
8654
0
0
6614
0
0
66730
0
0
908
0
0
16510
0
1
121390
0.00000823791
390447
chr16:75661871:G>A
KARS
NM_005548:p.Ala572Ala
NM_005548:c.1716C>T
EXON14
Unknown significance
rs781580580
This variant is a VUS because it does not have enough information.
-0.235
N
0.0
D
1
D;N
2.84
C
0
10396
0
0
11576
0
0
8654
0
0
6610
0
2
66728
0.0000299724
0
908
0
0
16510
0
2
121382
0.0000164769
390448
chr16:75661872:G>A
KARS
NM_005548:p.Ala572Val
NM_005548:c.1715C>T
EXON14
Unknown significance
rs746320017
This variant is a VUS because it does not have enough information.
1.048
C
0.02;0.029
D
0.586;0.999
P;D
0
D
1
D;D;D
5.82
C
0
10396
0
0
11576
0
0
8654
0
0
6610
0
2
66728
0.0000299724
0
908
0
0
16510
0
2
121382
0.0000164769
390449
chr16:75661875:G>A
KARS
NM_005548:p.Pro571Leu
NM_005548:c.1712C>T
EXON14
Unknown significance
rs1802510
This variant is a VUS because it does not have enough information.
1.048
C
0.001
D
1.0
D
0
D
1
D;D;D
6.03
C
390450
chr16:75661877:A>G
KARS
NM_005548:p.Phe570Phe
NM_005548:c.1710T>C
EXON14
Unknown significance
rs770155332
This variant is a VUS because it does not have enough information.
1.199
C
0.0
D
1
D;N
4.95
C
390451
chr16:75661880:C>G
KARS
NM_005548:p.Leu569Leu
NM_005548:c.1707G>C
EXON14
Unknown significance
rs780454206
This variant is a VUS because it does not have enough information.
0.935
N
0.0
D
1
D;N
4.01
C
0
10390
0
1
11576
0.0000863856
0
8654
0
0
6608
0
0
66732
0
0
908
0
0
16510
0
1
121378
0.00000823873
390452
chr16:75661883:A>T
KARS
NM_005548:p.Leu568Leu
NM_005548:c.1704T>A
EXON14
Unknown significance
rs549959474
This variant is a VUS because it does not have enough information.
1.199
C
0.0
D
1
D;N
2.53
C
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
0
10390
0
0
11576
0
0
8654
0
0
6608
0
0
66724
0
0
908
0
1
16510
0.0000605694
1
121370
0.00000823927
390453
chr16:75661885:G>A
KARS
NM_005548:p.Leu568Phe
NM_005548:c.1702C>T
EXON14
Unknown significance
rs768349236
This variant is a VUS because it does not have enough information.
1.048
C
0.001
D
1.0
D
0
D
1
D;D;N
6.03
C
0
10388
0
0
11576
0
1
8654
0.000115554
0
6608
0
0
66720
0
0
908
0
0
16510
0
1
121364
0.00000823968
390454
chr16:75661898:G>T
KARS
NM_005548:c.1696-7C>A
INTRON13
Unknown significance
rs375700761
This variant is a VUS because it does not have enough information.
0
8600
0
1
4396
0.00022748
1
12996
0.0000769468
1
10380
0.0000963391
0
11572
0
0
8654
0
0
6606
0
0
66698
0
0
908
0
0
16510
0
1
121328
0.00000824212
390455
chr16:75661900:G>A
KARS
NM_005548:c.1696-9C>T
INTRON13
Unknown significance
rs761263838
This variant is a VUS because it does not have enough information.
0
10380
0
0
11572
0
0
8654
0
0
6604
0
1
66696
0.0000149934
0
908
0
0
16510
0
1
121324
0.00000824239
390456
chr16:75661903:A>G
KARS
NM_005548:c.1696-12T>C
INTRON13
Unknown significance
rs370325473
This variant is a VUS because it does not have enough information.
0
8600
0
1
4396
0.00022748
1
12996
0.0000769468
1
10382
0.0000963206
0
11572
0
0
8654
0
0
6602
0
0
66694
0
0
908
0
0
16510
0
1
121322
0.00000824253
390457
chr16:75661905:G>T
KARS
NM_005548:c.1696-14C>A
INTRON13
Unknown significance
rs773042139
This variant is a VUS because it does not have enough information.
0
10380
0
0
11572
0
0
8654
0
0
6602
0
1
66690
0.0000149948
0
908
0
0
16510
0
1
121316
0.00000824294
390458
chr16:75661908:T>C
KARS
NM_005548:c.1696-17A>G
INTRON13
Unknown significance
rs760726913
This variant is a VUS because it does not have enough information.
0
10382
0
0
11568
0
0
8654
0
0
6600
0
1
66686
0.0000149957
0
908
0
0
16510
0
1
121308
0.00000824348
390459
chr16:75661910:T>C
KARS
NM_005548:c.1696-19A>G
INTRON13
Unknown significance
rs766411635
This variant is a VUS because it does not have enough information.
0
10380
0
0
11566
0
0
8654
0
1
6600
0.000151515
0
66682
0
0
908
0
0
16510
0
1
121300
0.00000824402
390460
chr16:75661912:C>T
KARS
NM_005548:c.1696-21G>A
INTRON13
Benign
rs188921559
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
50
8600
0.00581395
11
4396
0.00250227
61
12996
0.00469375
0
1322
0
2
1006
0.002
6
694
0.0086
0
1008
0
0
978
0
8
5008
0.00159744
19
10380
0.00183044
18
11564
0.00155655
0
8652
0
3
6600
0.000454545
310
66676
0.00464935
2
908
0.00220264
4
16510
0.000242277
356
121290
0.00293511
390461
chr16:75661918:A>G
KARS
NM_005548:c.1696-27T>C
INTRON13
Unknown significance
rs371823244
This variant is a VUS because it does not have enough information.
1
8600
0.000116279
0
4396
0
1
12996
0.0000769468
1
10374
0.0000963948
0
11564
0
0
8652
0
0
6600
0
3
66670
0.0000449978
0
908
0
0
16510
0
4
121278
0.0000329821
390462
chr16:75661930:CT>-
KARS
NM_005548:c.1696-39_1696-36delAG
INTRON13
Unknown significance
rs778496609
This variant is a VUS because it does not have enough information.
390463
chr16:75661939:->T
KARS
NM_005548:c.1696-48_1696-47insA
INTRON13
Unknown significance
rs767554762
This variant is a VUS because it does not have enough information.
390464
chr16:75661976:T>C
KARS
NM_005548:c.1696-85A>G
INTRON13
Unknown significance
rs753428124
This variant is a VUS because it does not have enough information.
390465
chr16:75661991:T>C
KARS
NM_005548:c.1696-100A>G
INTRON13
Unknown significance
rs535745141
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
2
694
0.0029
0
1008
0
0
978
0
2
5008
0.000399361
390466
chr16:75662025:AT>-
KARS
NM_005548:c.1696-134_1696-131delAT
INTRON13
Benign
rs534800871
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
13
1322
0.0098
0
1006
0
0
694
0
0
1008
0
0
978
0
13
5008
0.00259585
390467
chr16:75662027:G>A
KARS
NM_005548:c.1696-136C>T
INTRON13
Unknown significance
rs555726202
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
390468
chr16:75662122:G>C
KARS
NM_005548:c.1696-231C>G
INTRON13
Benign
rs150605875
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
15
1322
0.0113
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
16
5008
0.00319489
390469
chr16:75662124:C>T
KARS
NM_005548:c.1696-233G>A
INTRON13
Unknown significance
rs761259904
This variant is a VUS because it does not have enough information.
390470
chr16:75662125:G>A
KARS
NM_005548:c.1696-234C>T
INTRON13
Benign
rs139697087
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
20
1322
0.0151
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
21
5008
0.00419329
390471
chr16:75662129:T>G
KARS
NM_005548:c.1696-238A>C
INTRON13
Benign
rs190958687
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
0
1006
0
7
694
0.0101
0
1008
0
0
978
0
7
5008
0.00139776
390472
chr16:75662141:T>C
KARS
NM_005548:c.1696-250A>G
INTRON13
Unknown significance
rs368278025
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
390473
chr16:75662143:G>C
KARS
NM_005548:c.1696-252C>G
INTRON13
Benign
rs182467493
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
0
1006
0
7
694
0.0101
0
1008
0
0
978
0
7
5008
0.00139776
390474
chr16:75662168:A>C
KARS
NM_005548:c.1696-277T>G
INTRON13
Unknown significance
rs563533770
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
390475
chr16:75662182:C>T
KARS
NM_005548:c.1695+285G>A
INTRON13
Unknown significance
rs764746469
This variant is a VUS because it does not have enough information.
390476
chr16:75662187:C>G
KARS
NM_005548:c.1695+280G>C
INTRON13
Unknown significance
rs186710394
This variant is a VUS because it does not have enough information.
390477
chr16:75662187:C>T
KARS
NM_005548:c.1695+280G>A
INTRON13
Unknown significance
rs186710394
This variant is a VUS because it does not have enough information.
390478
chr16:75662188:A>C
KARS
NM_005548:c.1695+279T>G
INTRON13
Unknown significance
rs371271298
This variant is a VUS because it does not have enough information.
2
1322
0.0015
0
1006
0
0
694
0
0
1008
0
0
978
0
2
5008
0.000399361
390479
chr16:75662210:A>-
KARS
NM_005548:c.1695+257delT
INTRON13
Unknown significance
rs780547621
This variant is a VUS because it does not have enough information.
390480
chr16:75662220:C>T
KARS
NM_005548:c.1695+247G>A
INTRON13
Benign
rs8051771
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
533
1322
0.4032
60
1006
0.0596
25
694
0.036
8
1008
0.0079
54
978
0.0552
680
5008
0.135783
390481
chr16:75662221:G>A
KARS
NM_005548:c.1695+246C>T
INTRON13
Unknown significance
rs780624716
This variant is a VUS because it does not have enough information.
390482
chr16:75662280:G>-
KARS
NM_005548:c.1695+187delC
INTRON13
Benign
rs5817957
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
117
1322
0.0885
17
1006
0.0169
16
694
0.0231
39
1008
0.0387
73
978
0.0746
262
5008
0.0523163
390483
chr16:75662282:->A
KARS
NM_005548:c.1695+185_1695+186insT
INTRON13
Unknown significance
rs752062672
This variant is a VUS because it does not have enough information.
390484
chr16:75662288:->C
KARS
NM_005548:c.1695+179_1695+180insG
INTRON13
Unknown significance
rs34920043
This variant is a VUS because it does not have enough information.
390485
chr16:75662304:T>C
KARS
NM_005548:c.1695+163A>G
INTRON13
Unknown significance
rs191517410
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
4
1008
0.004
0
978
0
4
5008
0.000798722
390486
chr16:75662317:C>T
KARS
NM_005548:c.1695+150G>A
INTRON13
Unknown significance
rs528801591
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
390487
chr16:75662342:C>G
KARS
NM_005548:c.1695+125G>C
INTRON13
Unknown significance
rs551437513
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
390488
chr16:75662360:C>G
KARS
NM_005548:c.1695+107G>C
INTRON13
Unknown significance
rs565287310
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
390489
chr16:75662362:A>G
KARS
NM_005548:c.1695+105T>C
INTRON13
Unknown significance
rs530896888
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
390490
chr16:75662416:A>G
KARS
NM_005548:c.1695+51T>C
INTRON13
Unknown significance
rs751953303
This variant is a VUS because it does not have enough information.
0
10192
0
0
11526
0
0
8652
0
0
6576
0
1
66666
0.0000150002
0
902
0
0
16500
0
1
121014
0.00000826351
390491
chr16:75662422:T>C
KARS
NM_005548:c.1695+45A>G
INTRON13
Unknown significance
rs751764695
This variant is a VUS because it does not have enough information.
0
10196
0
0
11532
0
0
8652
0
0
6588
0
0
66688
0
0
902
0
1
16502
0.0000605987
1
121060
0.00000826037
390492
chr16:75662427:C>G
KARS
NM_005548:c.1695+40G>C
INTRON13
Unknown significance
rs757287180
This variant is a VUS because it does not have enough information.
0
10196
0
1
11532
0.0000867152
0
8650
0
0
6582
0
0
66684
0
0
902
0
0
16504
0
1
121050
0.00000826105
390493
chr16:75662427:C>T
KARS
NM_005548:c.1695+40G>A
INTRON13
Unknown significance
rs757287180
This variant is a VUS because it does not have enough information.
2
10196
0.000196155
0
11532
0
0
8650
0
0
6582
0
0
66684
0
0
902
0
0
16504
0
2
121050
0.0000165221
390494
chr16:75662430:C>T
KARS
NM_005548:c.1695+37G>A
INTRON13
Unknown significance
rs551141922
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
2
978
0.002
2
5008
0.000399361
0
10196
0
0
11538
0
0
8652
0
0
6588
0
0
66686
0
0
902
0
24
16502
0.00145437
24
121064
0.000198242
390495
chr16:75662434:AGGA>-
KARS
NM_005548:c.1695+33_1695+38delTCCT
INTRON13
Unknown significance
rs745828246
This variant is a VUS because it does not have enough information.
390496
chr16:75662435:G>A
KARS
NM_005548:c.1695+32C>T
INTRON13
Unknown significance
rs756654729
This variant is a VUS because it does not have enough information.
0
10206
0
0
11540
0
0
8654
0
0
6590
0
0
66690
0
0
902
0
1
16504
0.0000605914
1
121086
0.00000825859
390497
chr16:75662436:G>A
KARS
NM_005548:c.1695+31C>T
INTRON13
Unknown significance
rs780517583
This variant is a VUS because it does not have enough information.
0
10202
0
0
11538
0
1
8654
0.000115554
1
6590
0.000151745
0
66694
0
0
902
0
2
16504
0.000121183
4
121084
0.0000330349
390498
chr16:75662442:T>C
KARS
NM_005548:c.1695+25A>G
INTRON13
Unknown significance
This variant is a VUS because it does not have enough information.
0
10242
0
0
11548
0
0
8654
0
0
6588
0
1
66704
0.0000149916
0
902
0
0
16504
0
1
121142
0.00000825478
390499
chr16:75662443:GC>-
KARS
NM_005548:c.1695+24_1695+27delGC
INTRON13
Unknown significance
rs758359458
This variant is a VUS because it does not have enough information.
0
10242
0
0
11548
0
0
8654
0
0
6588
0
1
66704
0.0000149916
0
902
0
0
16504
0
1
121142
0.00000825478
390500
chr16:75662451:G>A
KARS
NM_005548:c.1695+16C>T
INTRON13
Unknown significance
rs749677486
This variant is a VUS because it does not have enough information.
1
10306
0.0000970309
0
11554
0
0
8654
0
0
6592
0
0
66706
0
0
902
0
0
16506
0
1
121220
0.00000824946
390501
chr16:75662459:C>T
KARS
NM_005548:c.1695+8G>A
INTRON13
Unknown significance
rs755297356
This variant is a VUS because it does not have enough information.
0
10368
0
0
11558
0
0
8654
0
5
6596
0.000758035
0
66704
0
0
906
0
0
16506
0
5
121292
0.0000412228
390502
chr16:75662462:C>T
KARS
NM_005548:c.1695+5G>A
INTRON13
Unknown significance
rs778438390
This variant is a VUS because it does not have enough information.
0
10374
0
0
11560
0
0
8654
0
0
6594
0
0
66706
0
0
906
0
6
16506
0.000363504
6
121300
0.0000494641
390503
chr16:75662463:G>A
KARS
NM_005548:c.1695+4C>T
INTRON13
Unknown significance
rs747781002
This variant is a VUS because it does not have enough information.
0
10382
0
0
11560
0
3
8654
0.000346661
0
6598
0
0
66704
0
0
906
0
0
16506
0
3
121310
0.00002473
390504
chr16:75662466:C>A
KARS
NM_005548:c.1695+1G>T
INTRON13
Unknown significance
rs771615020
This variant is a VUS because it does not have enough information.
0.935
N
1
D
6.16
C
0
10380
0
0
11564
0
0
8654
0
0
6598
0
0
66702
0
0
906
0
1
16506
0.000060584
1
121310
0.00000824334
390505
chr16:75662468:T>C
KARS
NM_005548:p.Lys565Arg
NM_005548:c.1694A>G
EXON13
Unknown significance
rs772849634
This variant is a VUS because it does not have enough information.
1.061
C
0.26;0.232
T
0.206;1.0
B;D
0
D
1
D;D;D
6.16
C
0
10380
0
0
11562
0
0
8654
0
0
6598
0
1
66706
0.0000149912
0
906
0
0
16506
0
1
121312
0.00000824321
390506
chr16:75662474:T>A
KARS
NM_005548:p.Asn563Ile
NM_005548:c.1688A>T
EXON13
Unknown significance
rs746483110
This variant is a VUS because it does not have enough information.
1.061
C
0.001
D
0.992;1.0
D
0
D
1
D;D;D
5.06
C
0
10390
0
0
11560
0
0
8654
0
0
6602
0
2
66698
0.0000299859
0
906
0
0
16506
0
2
121316
0.0000164859
390507
chr16:75662475:T>G
KARS
NM_005548:p.Asn563His
NM_005548:c.1687A>C
EXON13
Unknown significance
rs141501602
This variant is a VUS because it does not have enough information.
1.061
C
0.034;0.0
D
0.853;1.0
P;D
0
D
1
D;D;D
6.16
C
1
8600
0.000116279
0
4396
0
1
12996
0.0000769468
0
10390
0
1
11560
0.0000865052
0
8654
0
0
6602
0
4
66708
0.0000599628
0
906
0
0
16506
0
5
121326
0.0000412113
390508
chr16:75662477:T>C
KARS
NM_005548:p.Asn562Ser
NM_005548:c.1685A>G
EXON13
Unknown significance
rs776658394
This variant is a VUS because it does not have enough information.
1.061
C
0.146;0.134
T
0.0;0.056
B
0
D
1
D;D;D
6.16
C
0
10390
0
0
11560
0
1
8654
0.000115554
0
6602
0
0
66700
0
0
906
0
0
16508
0
1
121320
0.00000824266
390509
chr16:75662480:G>C
KARS
NM_005548:p.Ser561Cys
NM_005548:c.1682C>G
EXON13
Unknown significance
rs759432090
This variant is a VUS because it does not have enough information.
1.048
C
0.054;0.032
T;D
0.953;0.97
P;D
0
D
1
D;D;D
6.16
C
0
10394
0
0
11560
0
1
8654
0.000115554
0
6602
0
0
66698
0
0
906
0
0
16508
0
1
121322
0.00000824253
390510
chr16:75662485:C>A
KARS
NM_005548:p.Thr559Thr
NM_005548:c.1677G>T
EXON13
Unknown significance
rs765014185
This variant is a VUS because it does not have enough information.
0
10396
0
0
11562
0
0
8654
0
0
6602
0
1
66702
0.0000149921
0
906
0
0
16510
0
1
121332
0.00000824185
390511
chr16:75662486:G>A
KARS
NM_005548:p.Thr559Met
NM_005548:c.1676C>T
EXON13
Pathogenic
23596069
rs774447299
Pathogenicity is based on the literature provided in PubMed.
1.048
C
0.0
D
1.0
D
0
D
1
D;D;D
6.16
C
0
10398
0
3
11564
0.000259426
0
8654
0
0
6602
0
3
66710
0.0000449708
0
906
0
0
16510
0
6
121344
0.0000494462
390512
chr16:75662488:G>A
KARS
NM_005548:p.Leu558Leu
NM_005548:c.1674C>T
EXON13
Benign
rs143267922
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
6
8600
0.000697674
27
4396
0.00614195
33
12996
0.00253924
7
1322
0.0053
1
1006
0.001
3
694
0.0043
0
1008
0
0
978
0
11
5008
0.00219649
79
10396
0.00759908
18
11568
0.00155602
0
8654
0
0
6602
0
55
66708
0.000824489
1
906
0.00110375
0
16510
0
153
121344
0.00126088
390513
chr16:75662490:G>A
KARS
NM_005548:p.Leu558Phe
NM_005548:c.1672C>T
EXON13
Unknown significance
rs201176171
This variant is a VUS because it does not have enough information.
1.048
C
0.014;0.019
D
0.807;0.96
P;D
0
D
1
D;D;D
5.21
C
390514
chr16:75662497:G>-
KARS
NM_005548:c.1665delC
EXON13
Unknown significance
rs780045874
This variant is a VUS because it does not have enough information.
0
10398
0
0
11570
0
0
8654
0
0
6604
0
1
66714
0.0000149894
0
906
0
0
16512
0
1
121358
0.00000824008
390515
chr16:75662499:C>T
KARS
NM_005548:p.Ala555Thr
NM_005548:c.1663G>A
EXON13
Likely benign
rs571409000
Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic.
0.125
N
1.0
T
0.0
B
0.00038
N
0.55189
D;D;D
3.95
C
0
10400
0
0
11570
0
0
8654
0
0
6604
0
4
66712
0.0000599592
0
906
0
0
16510
0
4
121356
0.0000329609
390516
chr16:75662500:G>A
KARS
NM_005548:p.Val554Val
NM_005548:c.1662C>T
EXON13
Unknown significance
rs750566432
This variant is a VUS because it does not have enough information.
0
10400
0
0
11568
0
0
8652
0
0
6604
0
2
66714
0.0000299787
0
906
0
1
16510
0.0000605694
3
121354
0.0000247211
390517
chr16:75662514:C>A
KARS
NM_005548:p.Gly550Cys
NM_005548:c.1648G>T
EXON13
Unknown significance
rs374972641
This variant is a VUS because it does not have enough information.
0.935
N
0.0
D
1.0
D
0
D
1
D;D;D
6.16
C
0
8600
0
1
4396
0.00022748
1
12996
0.0000769468
1
10400
0.0000961538
0
11566
0
0
8652
0
0
6608
0
0
66718
0
0
906
0
0
16508
0
1
121358
0.00000824008
390518
chr16:75662515:C>A
KARS
NM_005548:p.Met549Ile
NM_005548:c.1647G>T
EXON13
Unknown significance
rs368988143
This variant is a VUS because it does not have enough information.
0.935
N
0.183;0.13
T
0.005;0.183
B
0
D
1
D;D;D
6.16
C
0
8600
0
1
4396
0.00022748
1
12996
0.0000769468
1
10400
0.0000961538
0
11566
0
0
8652
0
0
6608
0
0
66716
0
0
906
0
0
16512
0
1
121360
0.00000823995
390519
chr16:75662527:A>C
KARS
NM_005548:p.Ala545Ala
NM_005548:c.1635T>G
EXON13
Unknown significance
rs754279970
This variant is a VUS because it does not have enough information.
0
10398
0
1
11568
0.0000864454
0
8654
0
0
6612
0
0
66716
0
0
904
0
0
16510
0
1
121362
0.00000823981
390520
chr16:75662529:C>T
KARS
NM_005548:p.Ala545Thr
NM_005548:c.1633G>A
EXON13
Unknown significance
rs755352453
This variant is a VUS because it does not have enough information.
0.852
N
0.001
D
0.24;1.0
B;D
0
D
1
D;D;D
5.98
C
0
10400
0
0
11570
0
0
8652
0
0
6612
0
0
66720
0
0
906
0
1
16510
0.0000605694
1
121370
0.00000823927
390521
chr16:75662533:G>T
KARS
NM_005548:p.Pro543Pro
NM_005548:c.1629C>A
EXON13
Unknown significance
rs139719193
This variant is a VUS because it does not have enough information.
1
8600
0.000116279
0
4396
0
1
12996
0.0000769468
0
10392
0
0
11568
0
0
8650
0
0
6610
0
1
66668
0.0000149997
0
906
0
0
16506
0
1
121300
0.00000824402
390522
chr16:75662538:G>A
KARS
NM_005548:p.Pro542Ser
NM_005548:c.1624C>T
EXON13
Unknown significance
rs748461134
This variant is a VUS because it does not have enough information.
0.953
C
0.001
D
1.0
D
0
D
1
D;D;D
5.98
C
0
10400
0
0
11566
0
0
8650
0
0
6612
0
1
66722
0.0000149876
0
906
0
0
16510
0
1
121366
0.00000823954
390523
chr16:75662540:A>G
KARS
NM_005548:p.Leu541Pro
NM_005548:c.1622T>C
EXON13
Unknown significance
rs758106723
This variant is a VUS because it does not have enough information.
1.088
C
0.014;0.016
D
0.966;0.983
D
0
D
1
D;D;D
5.98
C
0
10400
0
0
11570
0
0
8650
0
0
6612
0
0
66726
0
0
906
0
1
16510
0.0000605694
1
121374
0.000008239
390524
chr16:75662551:C>G
KARS
NM_005548:p.Leu537Leu
NM_005548:c.1611G>C
EXON13
Unknown significance
rs777264865
This variant is a VUS because it does not have enough information.
0
10400
0
1
11572
0.0000864155
0
8652
0
0
6610
0
0
66732
0
0
906
0
0
16510
0
1
121382
0.00000823845
390525
chr16:75662566:G>A
KARS
NM_005548:p.Asn532Asn
NM_005548:c.1596C>T
EXON13
Unknown significance
rs746538193
This variant is a VUS because it does not have enough information.
0
10400
0
0
11572
0
1
8654
0.000115554
0
6614
0
0
66726
0
0
906
0
0
16510
0
1
121382
0.00000823845
390526
chr16:75662588:TCA>-
KARS
NM_005548:c.1574_1578delTGA
EXON13
Unknown significance
rs746792084
This variant is a VUS because it does not have enough information.
0
10396
0
0
11572
0
0
8654
0
0
6614
0
1
66716
0.0000149889
0
906
0
0
16508
0
1
121366
0.00000823954
390527
chr16:75662589:C>T
KARS
NM_005548:p.Glu525Lys
NM_005548:c.1573G>A
EXON13
Pathogenic
Visual loss, progressive microcephaly, developmental delay, seizures, and abnormal subcortical white matter
25330800
rs770522582
Pathogenicity is based on the literature provided in PubMed.
0.852
N
0.0
D
1.0
D
0
D
1
D;D;D
5.76
C
0
10394
0
0
11572
0
0
8654
0
0
6614
0
1
66714
0.0000149894
0
906
0
0
16510
0
1
121364
0.00000823968
390528
chr16:75662602:A>G
KARS
NM_005548:p.Ala520Ala
NM_005548:c.1560T>C
EXON13
Unknown significance
rs201512705
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
0
10380
0
0
11572
0
5
8654
0.000577768
0
6614
0
0
66660
0
0
908
0
0
16506
0
5
121294
0.0000412222
390529
chr16:75662615:A>C
KARS
NM_005548:c.1552-5T>G
INTRON12
Unknown significance
rs745740229
This variant is a VUS because it does not have enough information.
0
10356
0
0
11570
0
0
8654
0
0
6614
0
2
66618
0.0000300219
0
908
0
0
16506
0
2
121226
0.0000164981
390530
chr16:75662616:A>C
KARS
NM_005548:c.1552-6T>G
INTRON12
Unknown significance
rs147548667
This variant is a VUS because it does not have enough information.
6
8600
0.000697674
0
4396
0
6
12996
0.000461681
0
1322
0
1
1006
0.001
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
0
10356
0
0
11572
0
0
8654
0
0
6614
0
24
66610
0.000360306
0
908
0
8
16506
0.000484672
32
121220
0.000263983
390531
chr16:75662620:G>T
KARS
NM_005548:c.1552-10C>A
INTRON12
Unknown significance
rs370881308
This variant is a VUS because it does not have enough information.
1
8600
0.000116279
0
4396
0
1
12996
0.0000769468
0
10350
0
0
11572
0
0
8654
0
0
6614
0
1
66578
0.00001502
0
908
0
0
16504
0
1
121180
0.00000825219
390532
chr16:75662626:G>C
KARS
NM_005548:c.1552-16C>G
INTRON12
Unknown significance
rs762634834
This variant is a VUS because it does not have enough information.
1
10340
0.0000967118
0
11570
0
0
8654
0
0
6614
0
0
66558
0
0
908
0
0
16504
0
1
121148
0.00000825437
390533
chr16:75662636:G>A
KARS
NM_005548:c.1552-26C>T
INTRON12
Unknown significance
rs767803941
This variant is a VUS because it does not have enough information.
0
10324
0
0
11568
0
0
8652
0
0
6612
0
0
66528
0
0
908
0
1
16502
0.0000605987
1
121094
0.00000825805
390534
chr16:75662638:G>A
KARS
NM_005548:c.1552-28C>T
INTRON12
Unknown significance
rs368550141
This variant is a VUS because it does not have enough information.
1
8600
0.000116279
0
4396
0
1
12996
0.0000769468
0
10320
0
0
11564
0
0
8654
0
0
6612
0
1
66518
0.0000150335
0
908
0
0
16502
0
1
121078
0.00000825914
390535
chr16:75662639:A>G
KARS
NM_005548:c.1552-29T>C
INTRON12
Unknown significance
rs372866185
This variant is a VUS because it does not have enough information.
1
8600
0.000116279
0
4396
0
1
12996
0.0000769468
390536
chr16:75662644:C>T
KARS
NM_005548:c.1552-34G>A
INTRON12
Unknown significance
rs760749777
This variant is a VUS because it does not have enough information.
0
10316
0
1
11560
0.0000865052
0
8652
0
0
6612
0
0
66488
0
0
904
0
0
16500
0
1
121032
0.00000826228
390537
chr16:75662649:A>G
KARS
NM_005548:c.1552-39T>C
INTRON12
Unknown significance
rs766392079
This variant is a VUS because it does not have enough information.
0
10292
0
0
11558
0
0
8648
0
0
6612
0
0
66472
0
0
904
0
1
16498
0.0000606134
1
120984
0.00000826556
390538
chr16:75662652:A>G
KARS
NM_005548:c.1552-42T>C
INTRON12
Unknown significance
rs748357802
This variant is a VUS because it does not have enough information.
390539
chr16:75662653:T>C
KARS
NM_005548:c.1552-43A>G
INTRON12
Unknown significance
rs753904809
This variant is a VUS because it does not have enough information.
0
10278
0
0
11550
0
0
8644
0
0
6610
0
0
66430
0
0
904
0
1
16490
0.0000606428
1
120906
0.00000827089
390540
chr16:75662660:G>A
KARS
NM_005548:c.1552-50C>T
INTRON12
Unknown significance
rs755550385
This variant is a VUS because it does not have enough information.
0
10256
0
0
11542
0
0
8638
0
0
6608
0
0
66324
0
0
902
0
1
16488
0.0000606502
1
120758
0.00000828102
390541
chr16:75662660:G>C
KARS
NM_005548:c.1552-50C>G
INTRON12
Unknown significance
rs755550385
This variant is a VUS because it does not have enough information.
0
10256
0
0
11542
0
0
8638
0
0
6608
0
1
66324
0.0000150775
0
902
0
0
16488
0
1
120758
0.00000828102
390542
chr16:75662689:G>A
KARS
NM_005548:c.1552-79C>T
INTRON12
Unknown significance
rs565810216
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
390543
chr16:75662695:G>A
KARS
NM_005548:c.1552-85C>T
INTRON12
Unknown significance
rs367743453
This variant is a VUS because it does not have enough information.
390544
chr16:75662720:C>G
KARS
NM_005548:c.1552-110G>C
INTRON12
Unknown significance
rs534920111
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
390545
chr16:75662731:G>C
KARS
NM_005548:c.1552-121C>G
INTRON12
Unknown significance
rs183997185
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
390546
chr16:75662775:G>A
KARS
NM_005548:c.1552-165C>T
INTRON12
Unknown significance
rs577610722
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
390547
chr16:75662813:C>T
KARS
NM_005548:c.1552-203G>A
INTRON12
Unknown significance
rs536748840
This variant is a VUS because it does not have enough information.
2
1322
0.0015
0
1006
0
0
694
0
0
1008
0
0
978
0
2
5008
0.000399361
390548
chr16:75662814:G>A
KARS
NM_005548:c.1552-204C>T
INTRON12
Benign
rs187360311
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
14
1322
0.0106
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
15
5008
0.00299521
390549
chr16:75662817:C>T
KARS
NM_005548:c.1552-207G>A
INTRON12
Unknown significance
rs573883389
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
390550
chr16:75662830:C>-
KARS
NM_005548:c.1552-220delG
INTRON12
Benign
rs372548951
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
24
1322
0.0182
0
1006
0
0
694
0
0
1008
0
0
978
0
24
5008
0.00479233
390551
chr16:75662844:A>G
KARS
NM_005548:c.1552-234T>C
INTRON12
Unknown significance
rs533853984
This variant is a VUS because it does not have enough information.
390552
chr16:75662867:G>A
KARS
NM_005548:c.1552-257C>T
INTRON12
Benign
rs79248873
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
42
1322
0.0318
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
43
5008
0.00858626
390553
chr16:75662873:G>C
KARS
NM_005548:c.1552-263C>G
INTRON12
Benign
rs9938305
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
21
1322
0.0159
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
22
5008
0.00439297
390554
chr16:75662875:A>C
KARS
NM_005548:c.1552-265T>G
INTRON12
Unknown significance
rs145594236
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
390555
chr16:75662883:C>T
KARS
NM_005548:c.1552-273G>A
INTRON12
Benign
rs41505349
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
766
1322
0.5794
121
1006
0.1203
283
694
0.4078
757
1008
0.751
478
978
0.4888
2405
5008
0.480232
390556
chr16:75662886:G>T
KARS
NM_005548:c.1552-276C>A
INTRON12
Unknown significance
rs573851246
This variant is a VUS because it does not have enough information.
390557
chr16:75662925:T>G
KARS
NM_005548:c.1552-315A>C
INTRON12
Benign
rs61588474
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
533
1322
0.4032
60
1006
0.0596
26
694
0.0375
8
1008
0.0079
62
978
0.0634
689
5008
0.13758
390558
chr16:75662928:C>T
KARS
NM_005548:c.1552-318G>A
INTRON12
Unknown significance
rs530962337
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
2
1008
0.002
0
978
0
2
5008
0.000399361
390559
chr16:75662929:A>G
KARS
NM_005548:c.1552-319T>C
INTRON12
Unknown significance
rs372069313
This variant is a VUS because it does not have enough information.
390560
chr16:75662962:C>G
KARS
NM_005548:c.1551+351G>C
INTRON12
Unknown significance
rs760430798
This variant is a VUS because it does not have enough information.
390561
chr16:75662972:G>A
KARS
NM_005548:c.1551+341C>T
INTRON12
Unknown significance
rs551078553
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
390562
chr16:75663011:C>A
KARS
NM_005548:c.1551+302G>T
INTRON12
Benign
rs76197636
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
69
1322
0.0522
0
1006
0
2
694
0.0029
0
1008
0
0
978
0
71
5008
0.0141773
390563
chr16:75663050:A>C
KARS
NM_005548:c.1551+263T>G
INTRON12
Unknown significance
rs377202444
This variant is a VUS because it does not have enough information.
390564
chr16:75663052:T>C
KARS
NM_005548:c.1551+261A>G
INTRON12
Unknown significance
rs556382276
This variant is a VUS because it does not have enough information.
390565
chr16:75663094:C>T
KARS
NM_005548:c.1551+219G>A
INTRON12
Unknown significance
rs192980764
This variant is a VUS because it does not have enough information.
390566
chr16:75663095:G>A
KARS
NM_005548:c.1551+218C>T
INTRON12
Unknown significance
rs530241006
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
1
1008
0.001
0
978
0
2
5008
0.000399361
390567
chr16:75663102:A>G
KARS
NM_005548:c.1551+211T>C
INTRON12
Benign
rs75584151
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
69
1322
0.0522
0
1006
0
2
694
0.0029
0
1008
0
0
978
0
71
5008
0.0141773
390568
chr16:75663106:G>A
KARS
NM_005548:c.1551+207C>T
INTRON12
Benign
rs58508930
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
9
1322
0.0068
43
1006
0.0427
238
694
0.3429
710
1008
0.7044
342
978
0.3497
1342
5008
0.267971
390569
chr16:75663132:T>C
KARS
NM_005548:c.1551+181A>G
INTRON12
Unknown significance
rs528366722
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
390570
chr16:75663137:G>C
KARS
NM_005548:c.1551+176C>G
INTRON12
Unknown significance
rs551702862
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
390571
chr16:75663175:G>T
KARS
NM_005548:c.1551+138C>A
INTRON12
Benign
rs145502323
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
0
1006
0
0
694
0
11
1008
0.0109
0
978
0
11
5008
0.00219649
390572
chr16:75663181:C>A
KARS
NM_005548:c.1551+132G>T
INTRON12
Unknown significance
rs763809602
This variant is a VUS because it does not have enough information.
390573
chr16:75663189:->A
KARS
NM_005548:c.1551+124_1551+125insT
INTRON12
Benign
rs56951212
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
824
1322
0.6233
120
1006
0.1193
285
694
0.4107
757
1008
0.751
477
978
0.4877
2463
5008
0.491813
390574
chr16:75663190:->C
KARS
NM_005548:c.1551+123_1551+124insG
INTRON12
Unknown significance
rs753552862
This variant is a VUS because it does not have enough information.
390575
chr16:75663223:C>T
KARS
NM_005548:c.1551+90G>A
INTRON12
Unknown significance
rs536684052
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
390576
chr16:75663231:G>A
KARS
NM_005548:c.1551+82C>T
INTRON12
Unknown significance
rs556556718
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
390577
chr16:75663244:C>A
KARS
NM_005548:c.1551+69G>T
INTRON12
Unknown significance
rs568253158
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
2
1008
0.002
0
978
0
2
5008
0.000399361
390578
chr16:75663246:G>C
KARS
NM_005548:c.1551+67C>G
INTRON12
Unknown significance
rs772767874
This variant is a VUS because it does not have enough information.
390579
chr16:75663271:T>A
KARS
NM_005548:c.1551+42A>T
INTRON12
Unknown significance
rs763605905
This variant is a VUS because it does not have enough information.
390580
chr16:75663293:C>T
KARS
NM_005548:c.1551+20G>A
INTRON12
Unknown significance
rs753151962
This variant is a VUS because it does not have enough information.
0
10406
0
0
11578
0
0
8654
0
0
6614
0
1
66736
0.0000149844
0
908
0
0
16512
0
1
121408
0.00000823669
390581
chr16:75663295:CA>-
KARS
NM_005548:c.1551+18_1551+21delTG
INTRON12
Unknown significance
rs769981436
This variant is a VUS because it does not have enough information.
0
10404
0
0
11578
0
0
8654
0
0
6614
0
1
66736
0.0000149844
0
908
0
0
16512
0
1
121406
0.00000823683
390582
chr16:75663300:T>A
KARS
NM_005548:c.1551+13A>T
INTRON12
Unknown significance
rs376381891
This variant is a VUS because it does not have enough information.
0
8600
0
3
4396
0.000682439
3
12996
0.00023084
7
10404
0.000672818
0
11578
0
0
8652
0
0
6614
0
0
66736
0
0
908
0
0
16512
0
7
121404
0.0000576587
390583
chr16:75663301:C>T
KARS
NM_005548:c.1551+12G>A
INTRON12
Unknown significance
rs777510165
This variant is a VUS because it does not have enough information.
0
10404
0
0
11578
0
0
8652
0
0
6614
0
0
66734
0
0
908
0
1
16512
0.000060562
1
121402
0.0000082371
390584
chr16:75663303:C>T
KARS
NM_005548:c.1551+10G>A
INTRON12
Unknown significance
rs367722503
This variant is a VUS because it does not have enough information.
2
8600
0.000232558
0
4396
0
2
12996
0.000153894
0
10404
0
0
11578
0
0
8652
0
1
6614
0.000151194
11
66734
0.000164834
0
908
0
0
16512
0
12
121402
0.0000988452
390585
chr16:75663309:T>A
KARS
NM_005548:c.1551+4A>T
INTRON12
Unknown significance
rs535950337
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
0
10406
0
0
11578
0
0
8652
0
0
6614
0
0
66736
0
0
908
0
1
16512
0.000060562
1
121406
0.00000823683
390586
chr16:75663324:C>A
KARS
NM_005548:p.Glu514Stop
NM_005548:c.1540G>T
EXON12
Unknown significance
rs372025031
This variant is a VUS because it does not have enough information.
0.935
N
0.000015
D
1
A;A;D
5.81
C
0
8600
0
1
4396
0.00022748
1
12996
0.0000769468
390587
chr16:75663327:C>A
KARS
NM_005548:p.Glu513Stop
NM_005548:c.1537G>T
EXON12
Unknown significance
rs75096057
This variant is a VUS because it does not have enough information.
0.935
N
0
D
1
A;A;D
5.81
C
390588
chr16:75663327:C>T
KARS
NM_005548:p.Glu513Lys
NM_005548:c.1537G>A
EXON12
Unknown significance
rs75096057
This variant is a VUS because it does not have enough information.
0.935
N
0.077;0.071
T
0.02;0.22
B
0
D
1
D;D;D
5.81
C
390589
chr16:75663333:G>C
KARS
NM_005548:p.Leu511Val
NM_005548:c.1531C>G
EXON12
Unknown significance
rs745366731
This variant is a VUS because it does not have enough information.
1.048
C
0.071;0.07
T
0.013;0.372
B
0
D
1
D;D;D
5.81
C
390590
chr16:75663338:C>T
KARS
NM_005548:p.Arg509Gln
NM_005548:c.1526G>A
EXON12
Unknown significance
rs769808930
This variant is a VUS because it does not have enough information.
0.935
N
0.025;0.022
D
0.818;0.957
P;D
0
D
1
D;D;D
5.81
C
0
10406
0
0
11578
0
0
8652
0
0
6614
0
1
66738
0.000014984
0
908
0
0
16512
0
1
121408
0.00000823669
390591
chr16:75663339:G>A
KARS
NM_005548:p.Arg509Trp
NM_005548:c.1525C>T
EXON12
Likely pathogenic
NSHL/ autosomal recessive DFNB89
10/22/2015 -- Manually curated by the MORL.
0.079
N
0.0
D
1.0
D
0
D
1
D;D;D
4.84
C
390592
chr16:75663344:C>T
KARS
NM_005548:p.Arg507Gln
NM_005548:c.1520G>A
EXON12
Unknown significance
rs752076127
This variant is a VUS because it does not have enough information.
0.069
N
0.565;0.57
T
0.0;0.005
B
0.000002
D
0.999999
D;D;D
4.87
C
0
10406
0
1
11576
0.0000863856
0
8652
0
0
6614
0
2
66736
0.0000299688
0
908
0
0
16510
0
3
121402
0.0000247113
390593
chr16:75663345:G>A
KARS
NM_005548:p.Arg507Trp
NM_005548:c.1519C>T
EXON12
Unknown significance
rs749139832
This variant is a VUS because it does not have enough information.
1.048
C
0.018
D
0.909;0.949
P
0.000002
D
0.999999
D;D;D
2.75
C
0
10406
0
2
11578
0.000172741
1
8652
0.00011558
0
6614
0
1
66736
0.0000149844
0
906
0
1
16510
0.0000605694
5
121402
0.0000411855
390594
chr16:75663354:C>T
KARS
NM_005548:p.Asp504Asn
NM_005548:c.1510G>A
EXON12
Unknown significance
rs768271183
This variant is a VUS because it does not have enough information.
0.935
N
0.19;0.204
T
0.54;0.999
P;D
0
D
1
D;D;D
5.81
C
0
10406
0
0
11578
0
0
8652
0
0
6614
0
0
66736
0
0
908
0
1
16510
0.0000605694
1
121404
0.00000823696
390595
chr16:75663370:C>T
KARS
NM_005548:p.Ala498Ala
NM_005548:c.1494G>A
EXON12
Unknown significance
rs374568114
This variant is a VUS because it does not have enough information.
1
8600
0.000116279
0
4396
0
1
12996
0.0000769468
3
10406
0.000288295
0
11578
0
1
8652
0.00011558
0
6614
0
3
66738
0.0000449519
0
908
0
0
16510
0
7
121406
0.0000576578
390596
chr16:75663374:T>A
KARS
NM_005548:p.Asn497Ile
NM_005548:c.1490A>T
EXON12
Unknown significance
rs760948024
This variant is a VUS because it does not have enough information.
1.061
C
0.0
D
1.0
D
0
D
1
D;D;D
5.81
C
0
10406
0
1
11576
0.0000863856
0
8652
0
0
6614
0
0
66736
0
0
908
0
0
16510
0
1
121402
0.0000082371
390597
chr16:75663374:T>C
KARS
NM_005548:p.Asn497Ser
NM_005548:c.1490A>G
EXON12
Unknown significance
rs760948024
This variant is a VUS because it does not have enough information.
1.061
C
0.001
D
1.0
D
0
D
1
D;D;D
5.81
C
0
10406
0
0
11576
0
0
8652
0
0
6614
0
1
66736
0.0000149844
0
908
0
0
16510
0
1
121402
0.0000082371
390598
chr16:75663378:A>G
KARS
NM_005548:p.Cys496Arg
NM_005548:c.1486T>C
EXON12
Unknown significance
rs776736207
This variant is a VUS because it does not have enough information.
1.199
C
0.0
D
0.998;1.0
D
0
D
1
D;D;D
5.81
C
0
10406
0
0
11576
0
0
8652
0
0
6614
0
1
66738
0.000014984
0
908
0
0
16510
0
1
121404
0.00000823696
390599
chr16:75663379:T>C
KARS
NM_005548:p.Ile495Met
NM_005548:c.1485A>G
EXON12
Unknown significance
rs144274136
This variant is a VUS because it does not have enough information.
0.113
N
0.001
D
0.002;0.796
B;P
0.000644
D
0.999997
D;D;D
-3.29
N
4
8600
0.000465116
1
4396
0.00022748
5
12996
0.000384734
2
10406
0.000192197
0
11576
0
0
8652
0
3
6614
0.000453583
79
66738
0.00118373
0
908
0
0
16510
0
84
121404
0.000691905
390600
chr16:75663382:C>G
KARS
NM_005548:p.Glu494Asp
NM_005548:c.1482G>C
EXON12
Unknown significance
rs527539107
This variant is a VUS because it does not have enough information.
-0.491
N
0.0
D
1.0;0.999
D
0
D
1
D;D;D
-0.749
N
390601
chr16:75663388:C>A
KARS
NM_005548:p.Lys492Asn
NM_005548:c.1476G>T
EXON12
Unknown significance
rs376962917
This variant is a VUS because it does not have enough information.
0.935
N
0.03;0.025
D
0.005;0.984
B;D
0
D
1
D;D;D
2.84
C
1
10406
0.0000960984
0
11576
0
0
8652
0
0
6614
0
0
66738
0
0
908
0
0
16510
0
1
121404
0.00000823696
390602
chr16:75663388:C>T
KARS
NM_005548:p.Lys492Lys
NM_005548:c.1476G>A
EXON12
Unknown significance
rs376962917
This variant is a VUS because it does not have enough information.
2
8600
0.000232558
0
4396
0
2
12996
0.000153894
0
10406
0
0
11576
0
0
8652
0
0
6614
0
7
66738
0.000104888
0
908
0
0
16510
0
7
121404
0.0000576587
390603
chr16:75663392:A>G
KARS
NM_005548:p.Met491Thr
NM_005548:c.1472T>C
EXON12
Unknown significance
rs763377687
This variant is a VUS because it does not have enough information.
1.199
C
0.202;0.23
T
0.012;0.787
B;P
0
D
1
D;D;D
5.81
C
0
10406
0
0
11576
0
0
8652
0
0
6614
0
1
66738
0.000014984
0
908
0
0
16510
0
1
121404
0.00000823696
390604
chr16:75663393:->T
KARS
NM_005548:c.1471_1472insA
EXON12
Unknown significance
rs773474699
This variant is a VUS because it does not have enough information.
0
10406
0
0
11576
0
0
8652
0
0
6614
0
1
66738
0.000014984
0
908
0
0
16510
0
1
121404
0.00000823696
390605
chr16:75663396:C>A
KARS
NM_005548:p.Val490Phe
NM_005548:c.1468G>T
EXON12
Unknown significance
rs764493463
This variant is a VUS because it does not have enough information.
0.935
N
0.0
D
0.726;0.925
P
0
D
1
D;D;D
5.81
C
0
10406
0
0
11576
0
0
8652
0
0
6614
0
0
66732
0
0
908
0
1
16510
0.0000605694
1
121398
0.00000823737
390606
chr16:75663397:A>C
KARS
NM_005548:p.Phe489Leu
NM_005548:c.1467T>G
EXON12
Unknown significance
rs751957482
This variant is a VUS because it does not have enough information.
1.199
C
0.001
D
0.968;0.995
D
0
D
1
D;D;D
-0.0169
N
0
10406
0
0
11576
0
0
8652
0
0
6614
0
0
66734
0
0
908
0
1
16510
0.0000605694
1
121400
0.00000823723
390607
chr16:75663400:C>A
KARS
NM_005548:p.Leu488Leu
NM_005548:c.1464G>T
EXON12
Unknown significance
rs200649943
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
390608
chr16:75663400:C>G
KARS
NM_005548:p.Leu488Leu
NM_005548:c.1464G>C
EXON12
Unknown significance
rs200649943
This variant is a VUS because it does not have enough information.
0
10406
0
0
11576
0
0
8652
0
0
6614
0
0
66734
0
0
908
0
1
16510
0.0000605694
1
121400
0.00000823723
390609
chr16:75663400:C>T
KARS
NM_005548:p.Leu488Leu
NM_005548:c.1464G>A
EXON12
Unknown significance
rs200649943
This variant is a VUS because it does not have enough information.
0
10406
0
0
11576
0
0
8652
0
0
6614
0
1
66734
0.0000149849
0
908
0
0
16510
0
1
121400
0.00000823723
390610
chr16:75663416:G>C
KARS
NM_005548:p.Thr483Ser
NM_005548:c.1448C>G
EXON12
Unknown significance
rs200645820
This variant is a VUS because it does not have enough information.
1.048
C
0.1;0.112
T
0.046;0.879
B;P
0
D
1
D;D;D
5.81
C
1
8600
0.000116279
0
4396
0
1
12996
0.0000769468
1
10392
0.0000962279
0
11576
0
0
8650
0
0
6614
0
10
66720
0.00014988
1
908
0.00110132
0
16510
0
12
121370
0.0000988712
390611
chr16:75663422:C>-
KARS
NM_005548:c.1442delG
EXON12
Unknown significance
rs749416890
This variant is a VUS because it does not have enough information.
1
10388
0.0000962649
0
11574
0
0
8650
0
0
6614
0
0
66712
0
0
908
0
0
16510
0
1
121356
0.00000824022
390612
chr16:75663426:C>G
KARS
NM_005548:p.Glu480Gln
NM_005548:c.1438G>C
EXON12
Unknown significance
rs376538590
This variant is a VUS because it does not have enough information.
0.059
N
0.046;0.037
D
0.001
B
0.016306
N
0.956569
D;N;N
1.07
C
0
8600
0
2
4396
0.000454959
2
12996
0.000153894
6
10390
0.000577478
0
11570
0
0
8648
0
0
6614
0
0
66698
0
0
908
0
0
16510
0
6
121338
0.0000494486
390613
chr16:75663429:T>C
KARS
NM_005548:p.Lys479Glu
NM_005548:c.1435A>G
EXON12
Unknown significance
rs780046389
This variant is a VUS because it does not have enough information.
1.061
C
0.424;0.501
T
0.0
B
0.000405
D
0.761809
D;N;N
5.81
C
390614
chr16:75663430:->AG
KARS
NM_005548:c.1434_1435insCT
EXON12
Unknown significance
rs771005768
This variant is a VUS because it does not have enough information.
390615
chr16:75663430:A>G
KARS
NM_005548:p.Ser478Ser
NM_005548:c.1434T>C
EXON12
Unknown significance
rs148422506
This variant is a VUS because it does not have enough information.
0
1322
0
1
1006
0.001
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
0
10384
0
0
11570
0
0
8646
0
0
6614
0
1
66690
0.0000149948
0
908
0
0
16508
0
1
121320
0.00000824266
390616
chr16:75663431:G>A
KARS
NM_005548:p.Ser478Phe
NM_005548:c.1433C>T
EXON12
Unknown significance
rs768628296
This variant is a VUS because it does not have enough information.
0.138
N
0.001
D
0.087;0.359
B
0.000634
D
1
D;D;D
4.85
C
0
10384
0
0
11570
0
0
8646
0
0
6614
0
1
66680
0.000014997
0
908
0
0
16508
0
1
121310
0.00000824334
390617
chr16:75663434:C>T
KARS
NM_005548:p.Arg477His
NM_005548:c.1430G>A
EXON12
Unknown significance
rs778748895
This variant is a VUS because it does not have enough information.
0.935
N
0.0
D
0.997;1.0
D
0
D
1
D;D;D
5.81
C
0
10374
0
0
11570
0
0
8646
0
0
6612
0
1
66678
0.0000149975
0
908
0
0
16506
0
1
121294
0.00000824443
390618
chr16:75663435:G>A
KARS
NM_005548:p.Arg477Cys
NM_005548:c.1429C>T
EXON12
Unknown significance
rs747912168
This variant is a VUS because it does not have enough information.
1.048
C
0.0
D
0.565;0.904
P
0
D
1
D;D;D
5.81
C
0
10370
0
1
11570
0.0000864304
0
8646
0
0
6612
0
0
66676
0
0
908
0
0
16508
0
1
121290
0.0000082447
390619
chr16:75663439:C>A
KARS
NM_005548:p.Arg475Ser
NM_005548:c.1425G>T
EXON12
Unknown significance
rs771195611
This variant is a VUS because it does not have enough information.
0.935
N
0.02;0.018
D
0.996;1.0
D
0
D
1
D;D;D
5.81
C
390620
chr16:75663442:A>G
KARS
NM_005548:c.1425-3T>C
INTRON11
Unknown significance
rs776781414
This variant is a VUS because it does not have enough information.
0
10354
0
0
11564
0
0
8632
0
0
6612
0
0
66654
0
1
908
0.00110132
0
16504
0
1
121228
0.00000824892
390621
chr16:75663443:G>C
KARS
NM_005548:c.1425-4C>G
INTRON11
Unknown significance
rs369753718
This variant is a VUS because it does not have enough information.
0
8600
0
2
4396
0.000454959
2
12996
0.000153894
2
10354
0.000193162
0
11564
0
0
8634
0
0
6612
0
0
66650
0
0
908
0
0
16504
0
2
121226
0.0000164981
390622
chr16:75663444:G>A
KARS
NM_005548:c.1425-5C>T
INTRON11
Unknown significance
rs769694206
This variant is a VUS because it does not have enough information.
0
10354
0
0
11564
0
0
8634
0
0
6612
0
0
66648
0
1
908
0.00110132
0
16504
0
1
121224
0.00000824919
390623
chr16:75663449:G>A
KARS
NM_005548:c.1425-10C>T
INTRON11
Unknown significance
rs767861629
This variant is a VUS because it does not have enough information.
0
10336
0
0
11562
0
0
8626
0
0
6610
0
3
66622
0.0000450302
0
906
0
0
16500
0
3
121162
0.0000247602
390624
chr16:75663452:G>A
KARS
NM_005548:c.1425-13C>T
INTRON11
Unknown significance
rs202115505
This variant is a VUS because it does not have enough information.
1
8600
0.000116279
0
4396
0
1
12996
0.0000769468
0
10336
0
0
11562
0
0
8616
0
1
6610
0.000151286
4
66608
0.0000600528
0
904
0
0
16500
0
5
121136
0.0000412759
390625
chr16:75663460:A>T
KARS
NM_005548:c.1425-21T>A
INTRON11
Unknown significance
rs376806083
This variant is a VUS because it does not have enough information.
1
8600
0.000116279
0
4396
0
1
12996
0.0000769468
390626
chr16:75663461:G>A
KARS
NM_005548:c.1425-22C>T
INTRON11
Unknown significance
rs764691719
This variant is a VUS because it does not have enough information.
0
10294
0
0
11562
0
1
8610
0.000116144
0
6608
0
0
66576
0
0
904
0
0
16500
0
1
121054
0.00000826078
390627
chr16:75663462:G>A
KARS
NM_005548:c.1425-23C>T
INTRON11
Unknown significance
rs752011614
This variant is a VUS because it does not have enough information.
0
10278
0
0
11562
0
0
8610
0
0
6608
0
0
66570
0
0
904
0
1
16500
0.0000606061
1
121032
0.00000826228
390628
chr16:75663463:A>C
KARS
NM_005548:c.1425-24T>G
INTRON11
Unknown significance
rs762245486
This variant is a VUS because it does not have enough information.
1
10272
0.000097352
0
11562
0
0
8608
0
0
6608
0
0
66566
0
0
904
0
0
16500
0
1
121020
0.0000082631
390629
chr16:75663464:G>A
KARS
NM_005548:c.1425-25C>T
INTRON11
Unknown significance
rs767310925
This variant is a VUS because it does not have enough information.
0
10258
0
0
11562
0
0
8610
0
0
6608
0
0
66566
0
0
904
0
2
16500
0.000121212
2
121008
0.0000165278
390630
chr16:75663465:G>A
KARS
NM_005548:c.1425-26C>T
INTRON11
Unknown significance
rs749977799
This variant is a VUS because it does not have enough information.
0
10248
0
0
11562
0
0
8608
0
0
6608
0
0
66556
0
0
904
0
1
16500
0.0000606061
1
120986
0.00000826542
390631
chr16:75663465:G>T
KARS
NM_005548:c.1425-26C>A
INTRON11
Unknown significance
rs749977799
This variant is a VUS because it does not have enough information.
0
10248
0
0
11562
0
0
8608
0
0
6608
0
0
66556
0
0
904
0
2
16500
0.000121212
2
120986
0.0000165308
390632
chr16:75663466:C>G
KARS
NM_005548:c.1425-27G>C
INTRON11
Unknown significance
rs765865252
This variant is a VUS because it does not have enough information.
0
10248
0
0
11562
0
0
8608
0
0
6608
0
1
66558
0.0000150245
0
904
0
0
16500
0
1
120988
0.00000826528
390633
chr16:75663468:G>A
KARS
NM_005548:c.1425-29C>T
INTRON11
Unknown significance
rs376606066
This variant is a VUS because it does not have enough information.
0
10236
0
0
11558
0
2
8606
0.000232396
0
6606
0
0
66540
0
1
904
0.00110619
0
16500
0
3
120950
0.0000248036
390634
chr16:75663470:A>G
KARS
NM_005548:c.1425-31T>C
INTRON11
Unknown significance
rs185621048
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
0
10230
0
25
11558
0.002163
0
8602
0
0
6606
0
0
66550
0
0
904
0
0
16500
0
25
120950
0.000206697
390635
chr16:75663472:A>G
KARS
NM_005548:c.1425-33T>C
INTRON11
Unknown significance
rs535440639
This variant is a VUS because it does not have enough information.
390636
chr16:75663477:G>A
KARS
NM_005548:c.1425-38C>T
INTRON11
Unknown significance
rs200364315
This variant is a VUS because it does not have enough information.
0
10098
0
1
11548
0.0000865951
0
8590
0
0
6602
0
0
66464
0
0
904
0
0
16484
0
1
120690
0.00000828569
390637
chr16:75663479:C>A
KARS
NM_005548:c.1425-40G>T
INTRON11
Unknown significance
rs747955760
This variant is a VUS because it does not have enough information.
0
10098
0
0
11548
0
0
8584
0
0
6602
0
1
66452
0.0000150485
0
904
0
0
16484
0
1
120672
0.00000828693
390638
chr16:75663479:C>T
KARS
NM_005548:c.1425-40G>A
INTRON11
Unknown significance
rs747955760
This variant is a VUS because it does not have enough information.
0
10098
0
0
11548
0
0
8584
0
0
6602
0
1
66452
0.0000150485
0
904
0
6
16484
0.000363989
7
120672
0.0000580085
390639
chr16:75663484:->A
KARS
NM_005548:c.1425-45_1425-44insT
INTRON11
Unknown significance
rs756898275
This variant is a VUS because it does not have enough information.
0
9936
0
6
11540
0.000519931
0
8570
0
0
6596
0
19
66344
0.000286386
0
902
0
0
16478
0
25
120366
0.0002077
390640
chr16:75663484:A>G
KARS
NM_005548:c.1425-45T>C
INTRON11
Unknown significance
rs781394222
This variant is a VUS because it does not have enough information.
0
9890
0
0
11520
0
0
8562
0
0
6592
0
1
66244
0.0000150957
0
902
0
0
16472
0
1
120182
0.00000832071
390641
chr16:75663485:A>G
KARS
NM_005548:c.1425-46T>C
INTRON11
Unknown significance
rs746016731
This variant is a VUS because it does not have enough information.
0
9892
0
0
11532
0
0
8562
0
0
6592
0
1
66290
0.0000150852
0
902
0
0
16472
0
1
120242
0.00000831656
390642
chr16:75663491:T>C
KARS
NM_005548:c.1425-52A>G
INTRON11
Unknown significance
rs770041980
This variant is a VUS because it does not have enough information.
0
9844
0
0
11520
0
0
8544
0
0
6590
0
0
66182
0
0
902
0
1
16472
0.0000607091
1
120054
0.00000832959
390643
chr16:75663507:->T
KARS
NM_005548:c.1425-68_1425-67insA
INTRON11
Unknown significance
rs528716918
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
1
694
0.0014
1
1008
0.001
0
978
0
3
5008
0.000599042
390644
chr16:75663514:T>C
KARS
NM_005548:c.1425-75A>G
INTRON11
Unknown significance
rs756351295
This variant is a VUS because it does not have enough information.
390645
chr16:75663520:C>T
KARS
NM_005548:c.1425-81G>A
INTRON11
Benign
rs559236017
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
0
1006
0
0
694
0
0
1008
0
6
978
0.0061
6
5008
0.00119808
390646
chr16:75663521:G>A
KARS
NM_005548:c.1425-82C>T
INTRON11
Unknown significance
rs79612807
This variant is a VUS because it does not have enough information.
4
1322
0.003
0
1006
0
0
694
0
0
1008
0
0
978
0
4
5008
0.000798722
390647
chr16:75663522:G>C
KARS
NM_005548:c.1425-83C>G
INTRON11
Unknown significance
rs190496099
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
390648
chr16:75663524:G>C
KARS
NM_005548:c.1425-85C>G
INTRON11
Benign
rs193272354
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
9
1322
0.0068
0
1006
0
0
694
0
0
1008
0
0
978
0
9
5008
0.00179712
390649
chr16:75663528:C>T
KARS
NM_005548:c.1425-89G>A
INTRON11
Unknown significance
rs11639581
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
390650
chr16:75663530:C>A
KARS
NM_005548:c.1425-91G>T
INTRON11
Unknown significance
rs11639582
This variant is a VUS because it does not have enough information.
390651
chr16:75663538:C>A
KARS
NM_005548:c.1425-99G>T
INTRON11
Unknown significance
rs777771119
This variant is a VUS because it does not have enough information.
390652
chr16:75663539:G>C
KARS
NM_005548:c.1425-100C>G
INTRON11
Unknown significance
rs11649491
This variant is a VUS because it does not have enough information.
390653
chr16:75663544:C>T
KARS
NM_005548:c.1425-105G>A
INTRON11
Unknown significance
rs111883921
This variant is a VUS because it does not have enough information.
2
1322
0.0015
0
1006
0
0
694
0
0
1008
0
0
978
0
2
5008
0.000399361
390654
chr16:75663553:A>C
KARS
NM_005548:c.1425-114T>G
INTRON11
Unknown significance
rs749346189
This variant is a VUS because it does not have enough information.
390655
chr16:75663557:G>C
KARS
NM_005548:c.1425-118C>G
INTRON11
Unknown significance
rs11649494
This variant is a VUS because it does not have enough information.
390656
chr16:75663599:G>A
KARS
NM_005548:c.1425-160C>T
INTRON11
Unknown significance
rs559283116
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
390657
chr16:75663629:G>A
KARS
NM_005548:c.1425-190C>T
INTRON11
Unknown significance
rs528318978
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
390658
chr16:75663642:C>A
KARS
NM_005548:c.1425-203G>T
INTRON11
Unknown significance
rs551372141
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
390659
chr16:75663672:T>A
KARS
NM_005548:c.1425-233A>T
INTRON11
Unknown significance
rs571486574
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
390660
chr16:75663675:T>C
KARS
NM_005548:c.1425-236A>G
INTRON11
Unknown significance
rs758371017
This variant is a VUS because it does not have enough information.
390661
chr16:75663684:C>A
KARS
NM_005548:c.1425-245G>T
INTRON11
Unknown significance
rs779997900
This variant is a VUS because it does not have enough information.
390662
chr16:75663692:C>T
KARS
NM_005548:c.1425-253G>A
INTRON11
Unknown significance
rs530715390
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
390663
chr16:75663696:A>G
KARS
NM_005548:c.1425-257T>C
INTRON11
Unknown significance
rs550118904
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
2
1008
0.002
0
978
0
3
5008
0.000599042
390664
chr16:75663699:T>C
KARS
NM_005548:c.1425-260A>G
INTRON11
Unknown significance
rs566961893
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
390665
chr16:75663710:G>A
KARS
NM_005548:c.1425-271C>T
INTRON11
Unknown significance
rs202242920
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
390666
chr16:75663715:A>C
KARS
NM_005548:c.1425-276T>G
INTRON11
Unknown significance
rs369148654
This variant is a VUS because it does not have enough information.
390667
chr16:75663811:A>G
KARS
NM_005548:c.1425-372T>C
INTRON11
Unknown significance
rs746899280
This variant is a VUS because it does not have enough information.
390668
chr16:75663815:G>A
KARS
NM_005548:c.1425-376C>T
INTRON11
Unknown significance
rs553059480
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
390669
chr16:75663818:A>G
KARS
NM_005548:c.1425-379T>C
INTRON11
Unknown significance
rs566936407
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
390670
chr16:75663820:A>G
KARS
NM_005548:c.1425-381T>C
INTRON11
Unknown significance
rs142572866
This variant is a VUS because it does not have enough information.
0
1322
0
2
1006
0.002
1
694
0.0014
0
1008
0
0
978
0
3
5008
0.000599042
390671
chr16:75663823:G>A
KARS
NM_005548:c.1425-384C>T
INTRON11
Unknown significance
rs150918335
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
1
1008
0.001
0
978
0
2
5008
0.000399361
390672
chr16:75663831:G>T
KARS
NM_005548:c.1425-392C>A
INTRON11
Unknown significance
rs75260215
This variant is a VUS because it does not have enough information.
390673
chr16:75663835:G>A
KARS
NM_005548:c.1425-396C>T
INTRON11
Unknown significance
rs373381941
This variant is a VUS because it does not have enough information.
390674
chr16:75663858:G>T
KARS
NM_005548:c.1425-419C>A
INTRON11
Unknown significance
rs575962939
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
390675
chr16:75663864:C>T
KARS
NM_005548:c.1425-425G>A
INTRON11
Unknown significance
rs544931568
This variant is a VUS because it does not have enough information.
2
1322
0.0015
0
1006
0
0
694
0
0
1008
0
0
978
0
2
5008
0.000399361
390676
chr16:75663877:C>T
KARS
NM_005548:c.1425-438G>A
INTRON11
Unknown significance
rs776481568
This variant is a VUS because it does not have enough information.
390677
chr16:75663910:C>A
KARS
NM_005548:c.1424+411G>T
INTRON11
Unknown significance
rs188314760
This variant is a VUS because it does not have enough information.
390678
chr16:75663950:G>A
KARS
NM_005548:c.1424+371C>T
INTRON11
Benign
rs78798046
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
117
1322
0.0885
17
1006
0.0169
16
694
0.0231
39
1008
0.0387
73
978
0.0746
262
5008
0.0523163
390679
chr16:75663967:G>C
KARS
NM_005548:c.1424+354C>G
INTRON11
Unknown significance
rs140846147
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
390680
chr16:75663978:G>T
KARS
NM_005548:c.1424+343C>A
INTRON11
Unknown significance
rs577743345
This variant is a VUS because it does not have enough information.
390681
chr16:75664023:T>C
KARS
NM_005548:c.1424+298A>G
INTRON11
Unknown significance
rs540352227
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
390682
chr16:75664028:T>C
KARS
NM_005548:c.1424+293A>G
INTRON11
Unknown significance
rs560673558
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
4
1008
0.004
0
978
0
4
5008
0.000798722
390683
chr16:75664068:G>C
KARS
NM_005548:c.1424+253C>G
INTRON11
Benign
rs35903075
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
5
1322
0.0038
65
1006
0.0646
37
694
0.0533
0
1008
0
13
978
0.0133
120
5008
0.0239617
390684
chr16:75664075:A>G
KARS
NM_005548:c.1424+246T>C
INTRON11
Benign
rs144870709
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
31
1322
0.0234
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
32
5008
0.00638978
390685
chr16:75664115:G>A
KARS
NM_005548:c.1424+206C>T
INTRON11
Unknown significance
rs181082151
This variant is a VUS because it does not have enough information.
390686
chr16:75664117:A>G
KARS
NM_005548:c.1424+204T>C
INTRON11
Unknown significance
rs772886092
This variant is a VUS because it does not have enough information.
390687
chr16:75664128:T>C
KARS
NM_005548:c.1424+193A>G
INTRON11
Unknown significance
rs564939188
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
390688
chr16:75664141:C>T
KARS
NM_005548:c.1424+180G>A
INTRON11
Unknown significance
rs530704230
This variant is a VUS because it does not have enough information.
0
1322
0
1
1006
0.001
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
390689
chr16:75664161:C>T
KARS
NM_005548:c.1424+160G>A
INTRON11
Unknown significance
rs550505818
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
2
694
0.0029
0
1008
0
0
978
0
2
5008
0.000399361
390690
chr16:75664167:C>A
KARS
NM_005548:c.1424+154G>T
INTRON11
Unknown significance
rs560523542
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
390691
chr16:75664178:G>A
KARS
NM_005548:c.1424+143C>T
INTRON11
Unknown significance
rs372609656
This variant is a VUS because it does not have enough information.
390692
chr16:75664189:G>T
KARS
NM_005548:c.1424+132C>A
INTRON11
Benign
rs529675239
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
0
1006
0
0
694
0
5
1008
0.005
0
978
0
5
5008
0.000998403
390693
chr16:75664198:G>A
KARS
NM_005548:c.1424+123C>T
INTRON11
Unknown significance
rs546293088
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
390694
chr16:75664211:A>C
KARS
NM_005548:c.1424+110T>G
INTRON11
Unknown significance
rs762580138
This variant is a VUS because it does not have enough information.
390695
chr16:75664217:C>T
KARS
NM_005548:c.1424+104G>A
INTRON11
Unknown significance
rs765935263
This variant is a VUS because it does not have enough information.
390696
chr16:75664230:C>T
KARS
NM_005548:c.1424+91G>A
INTRON11
Unknown significance
rs560330541
This variant is a VUS because it does not have enough information.
390697
chr16:75664272:C>T
KARS
NM_005548:c.1424+49G>A
INTRON11
Benign
rs115912670
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
8600
0
54
4396
0.0122839
54
12996
0.00415512
23
1322
0.0174
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
24
5008
0.00479233
114
9346
0.0121977
2
10470
0.000191022
0
7196
0
0
6106
0
10
58678
0.000170422
2
842
0.0023753
0
14766
0
128
107404
0.00119176
390698
chr16:75664273:C>T
KARS
NM_005548:c.1424+48G>A
INTRON11
Unknown significance
rs146765953
This variant is a VUS because it does not have enough information.
390699
chr16:75664274:A>C
KARS
NM_005548:c.1424+47T>G
INTRON11
Unknown significance
rs749356793
This variant is a VUS because it does not have enough information.
390700
chr16:75664287:G>A
KARS
NM_005548:c.1424+34C>T
INTRON11
Unknown significance
rs199644963
This variant is a VUS because it does not have enough information.
0
8600
0
11
4396
0.00250227
11
12996
0.000846414
5
1322
0.0038
0
1006
0
0
694
0
0
1008
0
0
978
0
5
5008
0.000998403
25
9466
0.00264103
2
10598
0.000188715
0
7360
0
0
6188
0
0
59536
0
0
846
0
0
14924
0
27
108918
0.000247893
390701
chr16:75664291:T>C
KARS
NM_005548:c.1424+30A>G
INTRON11
Unknown significance
rs371492804
This variant is a VUS because it does not have enough information.
0
9516
0
0
10708
0
0
7486
0
0
6230
0
1
60092
0.0000166412
0
846
0
0
15006
0
1
109884
0.00000910051
390702
chr16:75664291:T>G
KARS
NM_005548:c.1424+30A>C
INTRON11
Unknown significance
rs371492804
This variant is a VUS because it does not have enough information.
390703
chr16:75664293:A>T
KARS
NM_005548:c.1424+28T>A
INTRON11
Unknown significance
rs762274079
This variant is a VUS because it does not have enough information.
0
9560
0
0
10790
0
0
7570
0
0
6240
0
2
60500
0.0000330579
0
850
0
0
15096
0
2
110606
0.0000180822
390704
chr16:75664295:G>A
KARS
NM_005548:c.1424+26C>T
INTRON11
Unknown significance
rs767936983
This variant is a VUS because it does not have enough information.
0
9608
0
3
10804
0.000277675
0
7648
0
0
6262
0
1
60676
0.000016481
0
850
0
0
15118
0
4
110966
0.0000360471
390705
chr16:75664296:C>T
KARS
NM_005548:c.1424+25G>A
INTRON11
Unknown significance
rs773615583
This variant is a VUS because it does not have enough information.
0
9624
0
1
10836
0.000092285
0
7694
0
0
6254
0
0
60816
0
0
854
0
0
15126
0
1
111204
0.00000899248
390706
chr16:75664302:T>C
KARS
NM_005548:c.1424+19A>G
INTRON11
Unknown significance
rs376724925
This variant is a VUS because it does not have enough information.
0
8600
0
1
4396
0.00022748
1
12996
0.0000769468
1
9824
0.000101792
1
11054
0.000090465
0
8020
0
0
6316
0
1
62210
0.0000160746
0
862
0
0
15458
0
3
113744
0.000026375
390707
chr16:75664304:G>C
KARS
NM_005548:c.1424+17C>G
INTRON11
Unknown significance
rs766027288
This variant is a VUS because it does not have enough information.
0
9866
0
0
11098
0
0
8070
0
0
6336
0
0
62468
0
0
862
0
1
15498
0.0000645245
1
114198
0.00000875672
390708
chr16:75664312:G>A
KARS
NM_005548:c.1424+9C>T
INTRON11
Unknown significance
rs753341722
This variant is a VUS because it does not have enough information.
0
10052
0
0
11258
0
0
8374
0
0
6428
0
1
63754
0.0000156853
0
878
0
0
15794
0
1
116538
0.00000858089
390709
chr16:75664315:T>C
KARS
NM_005548:c.1424+6A>G
INTRON11
Unknown significance
rs754439515
This variant is a VUS because it does not have enough information.
2
10122
0.000197589
0
11324
0
0
8426
0
0
6456
0
0
64168
0
0
878
0
0
15896
0
2
117270
0.0000170547
390710
chr16:75664315:T>G
KARS
NM_005548:c.1424+6A>C
INTRON11
Unknown significance
rs754439515
This variant is a VUS because it does not have enough information.
0
10122
0
0
11324
0
0
8426
0
0
6456
0
0
64168
0
0
878
0
1
15896
0.0000629089
1
117270
0.00000852733
390711
chr16:75664323:T>C
KARS
NM_005548:p.Lys474Lys
NM_005548:c.1422A>G
EXON11
Unknown significance
rs752560027
This variant is a VUS because it does not have enough information.
0
10242
0
0
11434
0
1
8546
0.000117014
0
6520
0
0
65080
0
0
892
0
0
16154
0
1
118868
0.00000841269
390712
chr16:75664325:T>A
KARS
NM_005548:p.Lys474Stop
NM_005548:c.1420A>T
EXON11
Unknown significance
rs758199406
This variant is a VUS because it does not have enough information.
1.061
C
0
D
1
A;A;D
5.76
C
0
10256
0
0
11448
0
1
8558
0.00011685
0
6530
0
0
65276
0
0
894
0
0
16194
0
1
119156
0.00000839236
390713
chr16:75664344:C>T
KARS
NM_005548:p.Gln467Gln
NM_005548:c.1401G>A
EXON11
Unknown significance
rs777484823
This variant is a VUS because it does not have enough information.
0
10346
0
0
11544
0
0
8624
0
0
6590
0
1
66222
0.0000151007
0
900
0
0
16430
0
1
120656
0.00000828803
390714
chr16:75664348:G>T
KARS
NM_005548:p.Pro466Gln
NM_005548:c.1397C>A
EXON11
Unknown significance
rs7186504
This variant is a VUS because it does not have enough information.
1.048
C
0.0
D
1.0
D
0
D
1
D;D;D
5.76
C
390715
chr16:75664355:C>G
KARS
NM_005548:p.Asp464His
NM_005548:c.1390G>C
EXON11
Unknown significance
rs746812889
This variant is a VUS because it does not have enough information.
0.935
N
0.028
D
0.981;1.0
D
0
D
1
D;D;D
5.76
C
1
10366
0.0000964692
0
11552
0
0
8634
0
0
6594
0
0
66390
0
0
900
0
0
16474
0
1
120910
0.00000827061
390716
chr16:75664358:A>C
KARS
NM_005548:p.Cys463Gly
NM_005548:c.1387T>G
EXON11
Unknown significance
rs185867137
This variant is a VUS because it does not have enough information.
1.199
C
0.009;0.007
D
0.748;0.971
P;D
0
D
1
D;D;D
5.76
C
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
1
10366
0.0000964692
0
11554
0
0
8640
0
0
6594
0
0
66438
0
0
900
0
0
16478
0
1
120970
0.00000826651
390717
chr16:75664365:T>C
KARS
NM_005548:p.Thr460Thr
NM_005548:c.1380A>G
EXON11
Unknown significance
rs780300461
This variant is a VUS because it does not have enough information.
0
10374
0
0
11558
0
0
8646
0
0
6600
0
3
66496
0.0000451155
0
900
0
1
16478
0.000060687
4
121052
0.0000330437
390718
chr16:75664366:G>A
KARS
NM_005548:p.Thr460Ile
NM_005548:c.1379C>T
EXON11
Unknown significance
rs749349318
This variant is a VUS because it does not have enough information.
1.048
C
0.005;0.006
D
0.974;0.996
D
0
D
1
D;D;D
5.91
C
0
10374
0
0
11558
0
0
8646
0
0
6600
0
1
66502
0.0000150371
0
900
0
0
16478
0
1
121058
0.0000082605
390719
chr16:75664372:T>C
KARS
NM_005548:p.Asn458Ser
NM_005548:c.1373A>G
EXON11
Likely benign
rs140328951
Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic.
-0.209
N
0.147;0.16
T
0.0;0.002
B
0.000001
N
0.999951
D;D;D
4.81
C
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
0
10376
0
0
11560
0
1
8646
0.00011566
0
6602
0
2
66526
0.0000300634
0
904
0
0
16482
0
3
121096
0.0000247737
390720
chr16:75664377:G>A
KARS
NM_005548:p.Cys456Cys
NM_005548:c.1368C>T
EXON11
Unknown significance
rs376044061
This variant is a VUS because it does not have enough information.
1
8600
0.000116279
0
4396
0
1
12996
0.0000769468
0
10376
0
0
11560
0
0
8646
0
0
6606
0
6
66538
0.000090174
0
904
0
2
16484
0.00012133
8
121114
0.0000660535
390721
chr16:75664378:C>T
KARS
NM_005548:p.Cys456Tyr
NM_005548:c.1367G>A
EXON11
Unknown significance
rs748723559
This variant is a VUS because it does not have enough information.
0.935
N
0.034;0.039
D
0.407;0.99
B;D
0
D
1
D;D;D
5.91
C
0
10374
0
0
11560
0
1
8646
0.00011566
0
6606
0
0
66552
0
0
904
0
0
16482
0
1
121124
0.000008256
390722
chr16:75664379:A>C
KARS
NM_005548:p.Cys456Gly
NM_005548:c.1366T>G
EXON11
Unknown significance
rs772704062
This variant is a VUS because it does not have enough information.
1.199
C
0.009;0.01
D
0.774;0.851
P
0
D
1
D;D;D
5.91
C
0
10374
0
0
11562
0
1
8648
0.000115634
0
6608
0
0
66558
0
0
904
0
0
16482
0
1
121136
0.00000825518
390723
chr16:75664389:C>T
KARS
NM_005548:p.Leu452Leu
NM_005548:c.1356G>A
EXON11
Unknown significance
rs201426187
This variant is a VUS because it does not have enough information.
0
10372
0
0
11562
0
0
8646
0
0
6610
0
1
66564
0.0000150231
0
904
0
0
16488
0
1
121146
0.0000082545
390724
chr16:75664392:G>A
KARS
NM_005548:p.Phe451Phe
NM_005548:c.1353C>T
EXON11
Unknown significance
rs199560527
This variant is a VUS because it does not have enough information.
390725
chr16:75664395:C>G
KARS
NM_005548:p.Glu450Asp
NM_005548:c.1350G>C
EXON11
Unknown significance
rs200574045
This variant is a VUS because it does not have enough information.
-0.366
N
0.108
T
0.0;0.001
B
0.000001
D
0.999995
D;D;D
2.87
C
1
8600
0.000116279
0
4396
0
1
12996
0.0000769468
0
10368
0
0
11560
0
0
8648
0
0
6608
0
1
66554
0.0000150254
0
902
0
0
16488
0
1
121128
0.00000825573
390726
chr16:75664399:C>G
KARS
NM_005548:p.Gly449Ala
NM_005548:c.1346G>C
EXON11
Unknown significance
rs765973399
This variant is a VUS because it does not have enough information.
0.935
N
0.018;0.023
D
0.891;1.0
P;D
0
D
1
D;D;D
5.91
C
0
10364
0
0
11560
0
0
8648
0
0
6606
0
1
66526
0.0000150317
0
900
0
0
16482
0
1
121086
0.00000825859
390727
chr16:75664400:C>A
KARS
NM_005548:p.Gly449Trp
NM_005548:c.1345G>T
EXON11
Unknown significance
rs776302260
This variant is a VUS because it does not have enough information.
0.935
N
0.0
D
1.0
D
0
D
1
D;D;D
5.91
C
0
10368
0
0
11560
0
0
8648
0
0
6606
0
2
66536
0.0000300589
0
900
0
0
16484
0
2
121102
0.000016515
390728
chr16:75664403:C>G
KARS
NM_005548:p.Val448Leu
NM_005548:c.1342G>C
EXON11
Unknown significance
rs759047321
This variant is a VUS because it does not have enough information.
0.935
N
0.002
D
0.027;0.698
B;P
0
D
1
D;D;D
5.91
C
0
10368
0
1
11562
0.0000864902
0
8642
0
0
6606
0
0
66530
0
0
900
0
0
16482
0
1
121090
0.00000825832
390729
chr16:75664409:T>C
KARS
NM_005548:c.1339-3A>G
INTRON10
Unknown significance
rs764666612
This variant is a VUS because it does not have enough information.
0
10364
0
0
11560
0
0
8640
0
0
6606
0
1
66498
0.000015038
0
900
0
0
16474
0
1
121042
0.0000082616
390730
chr16:75664413:G>A
KARS
NM_005548:c.1339-7C>T
INTRON10
Unknown significance
rs752187875
This variant is a VUS because it does not have enough information.
0
10358
0
0
11558
0
0
8636
0
0
6606
0
0
66482
0
0
898
0
1
16472
0.0000607091
1
121010
0.00000826378
390731
chr16:75664416:->A
KARS
NM_005548:c.1339-10_1339-9insT
INTRON10
Unknown significance
rs767977536
This variant is a VUS because it does not have enough information.
0
10356
0
0
11556
0
0
8636
0
0
6606
0
0
66470
0
0
900
0
1
16470
0.0000607165
1
120994
0.00000826487
390732
chr16:75664416:AAAGC>-
KARS
NM_005548:c.1339-10_1339-4delGCTTT
INTRON10
Unknown significance
rs760083282
This variant is a VUS because it does not have enough information.
1
10356
0.0000965624
0
11556
0
0
8636
0
0
6606
0
2
66470
0.0000300888
0
900
0
0
16470
0
3
120994
0.0000247946
390733
chr16:75664418:A>G
KARS
NM_005548:c.1339-12T>C
INTRON10
Unknown significance
rs762942995
This variant is a VUS because it does not have enough information.
0
10358
0
0
11550
0
3
8636
0.000347383
0
6606
0
0
66464
0
0
898
0
0
16470
0
3
120982
0.0000247971
390734
chr16:75664421:A>G
KARS
NM_005548:c.1339-15T>C
INTRON10
Unknown significance
rs371316141
This variant is a VUS because it does not have enough information.
1
8600
0.000116279
0
4396
0
1
12996
0.0000769468
0
10358
0
0
11554
0
0
8634
0
0
6606
0
1
66458
0.0000150471
0
898
0
0
16468
0
1
120976
0.0000082661
390735
chr16:75664430:T>C
KARS
NM_005548:c.1339-24A>G
INTRON10
Unknown significance
rs751359967
This variant is a VUS because it does not have enough information.
0
10354
0
0
11548
0
0
8628
0
0
6606
0
0
66420
0
0
898
0
2
16460
0.000121507
2
120914
0.0000165407
390736
chr16:75664445:G>T
KARS
NM_005548:c.1339-39C>A
INTRON10
Unknown significance
rs757028497
This variant is a VUS because it does not have enough information.
0
10342
0
0
11540
0
0
8614
0
0
6600
0
1
66322
0.000015078
0
896
0
0
16448
0
1
120762
0.00000828075
390737
chr16:75664447:A>G
KARS
NM_005548:c.1339-41T>C
INTRON10
Unknown significance
rs760057780
This variant is a VUS because it does not have enough information.
390738
chr16:75664448:T>C
KARS
NM_005548:c.1339-42A>G
INTRON10
Unknown significance
rs780143923
This variant is a VUS because it does not have enough information.
1
10342
0.0000966931
0
11540
0
0
8610
0
0
6602
0
0
66250
0
0
898
0
1
16444
0.0000608125
2
120686
0.0000165719
390739
chr16:75664450:G>C
KARS
NM_005548:c.1339-44C>G
INTRON10
Unknown significance
rs754056628
This variant is a VUS because it does not have enough information.
0
10326
0
0
11528
0
0
8598
0
0
6600
0
0
66162
0
0
898
0
1
16430
0.0000608643
1
120542
0.00000829586
390740
chr16:75664456:G>A
KARS
NM_005548:c.1339-50C>T
INTRON10
Unknown significance
rs755239135
This variant is a VUS because it does not have enough information.
0
10312
0
0
11526
0
0
8576
0
0
6588
0
0
66060
0
0
898
0
1
16414
0.0000609236
1
120374
0.00000830744
390741
chr16:75664459:C>T
KARS
NM_005548:c.1339-53G>A
INTRON10
Unknown significance
rs538537204
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
390742
chr16:75664494:C>A
KARS
NM_005548:c.1339-88G>T
INTRON10
Unknown significance
rs555332644
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
390743
chr16:75664499:G>T
KARS
NM_005548:c.1339-93C>A
INTRON10
Unknown significance
rs574871634
This variant is a VUS because it does not have enough information.
3
1322
0.0023
0
1006
0
0
694
0
0
1008
0
0
978
0
3
5008
0.000599042
390744
chr16:75664524:A>C
KARS
NM_005548:c.1339-118T>G
INTRON10
Unknown significance
rs143849667
This variant is a VUS because it does not have enough information.
390745
chr16:75664525:T>-
KARS
NM_005548:c.1339-119delA
INTRON10
Unknown significance
rs745524374
This variant is a VUS because it does not have enough information.
390747
chr16:75664526:->TTA
KARS
NM_005548:c.1339-120_1339-119insTAA
INTRON10
Unknown significance
rs757908809
This variant is a VUS because it does not have enough information.
390746
chr16:75664526:TTA>-
KARS
NM_005548:c.1339-120_1339-116delTAA
INTRON10
Benign
rs145525565
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
795
1322
0.6014
122
1006
0.1213
287
694
0.4135
756
1008
0.75
474
978
0.4847
2434
5008
0.486022
390748
chr16:75664549:A>-
KARS
NM_005548:c.1339-143delT
INTRON10
Unknown significance
rs201968815
This variant is a VUS because it does not have enough information.
390749
chr16:75664564:C>T
KARS
NM_005548:c.1339-158G>A
INTRON10
Unknown significance
rs376411913
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
390750
chr16:75664572:C>T
KARS
NM_005548:c.1339-166G>A
INTRON10
Unknown significance
rs767839874
This variant is a VUS because it does not have enough information.
390751
chr16:75664573:G>A
KARS
NM_005548:c.1339-167C>T
INTRON10
Unknown significance
rs376963632
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
390752
chr16:75664643:G>A
KARS
NM_005548:c.1339-237C>T
INTRON10
Unknown significance
rs549417008
This variant is a VUS because it does not have enough information.
390753
chr16:75664648:T>A
KARS
NM_005548:c.1339-242A>T
INTRON10
Benign
rs116989849
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
0
1006
0
0
694
0
17
1008
0.0169
2
978
0.002
19
5008
0.00379393
390754
chr16:75664648:T>C
KARS
NM_005548:c.1339-242A>G
INTRON10
Unknown significance
rs116989849
This variant is a VUS because it does not have enough information.
390755
chr16:75664666:G>C
KARS
NM_005548:c.1339-260C>G
INTRON10
Unknown significance
rs16941282
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
390756
chr16:75664678:G>A
KARS
NM_005548:c.1339-272C>T
INTRON10
Benign
rs112225278
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
73
1322
0.0552
59
1006
0.0586
11
694
0.0159
8
1008
0.0079
53
978
0.0542
204
5008
0.0407348
390757
chr16:75664698:C>T
KARS
NM_005548:c.1339-292G>A
INTRON10
Unknown significance
rs575122663
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
2
978
0.002
2
5008
0.000399361
390758
chr16:75664718:A>C
KARS
NM_005548:c.1339-312T>G
INTRON10
Unknown significance
rs544085934
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
390759
chr16:75664729:C>T
KARS
NM_005548:c.1339-323G>A
INTRON10
Benign
rs138042411
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
23
1322
0.0174
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
24
5008
0.00479233
390760
chr16:75664807:A>G
KARS
NM_005548:c.1338+259T>C
INTRON10
Unknown significance
rs529966584
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
390761
chr16:75664817:G>A
KARS
NM_005548:c.1338+249C>T
INTRON10
Unknown significance
rs373005438
This variant is a VUS because it does not have enough information.
390762
chr16:75664840:T>C
KARS
NM_005548:c.1338+226A>G
INTRON10
Unknown significance
rs764348528
This variant is a VUS because it does not have enough information.
390763
chr16:75664859:C>T
KARS
NM_005548:c.1338+207G>A
INTRON10
Unknown significance
rs754020493
This variant is a VUS because it does not have enough information.
390764
chr16:75664860:G>A
KARS
NM_005548:c.1338+206C>T
INTRON10
Unknown significance
rs548812311
This variant is a VUS because it does not have enough information.
390765
chr16:75664876:A>G
KARS
NM_005548:c.1338+190T>C
INTRON10
Unknown significance
rs757351046
This variant is a VUS because it does not have enough information.
390766
chr16:75664882:A>C
KARS
NM_005548:c.1338+184T>G
INTRON10
Unknown significance
rs546528670
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
3
1008
0.003
0
978
0
3
5008
0.000599042
390767
chr16:75664891:T>G
KARS
NM_005548:c.1338+175A>C
INTRON10
Unknown significance
rs559903119
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
390768
chr16:75664894:G>C
KARS
NM_005548:c.1338+172C>G
INTRON10
Unknown significance
rs567010144
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
2
978
0.002
2
5008
0.000399361
390769
chr16:75664897:C>T
KARS
NM_005548:c.1338+169G>A
INTRON10
Benign
rs16941287
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
117
1322
0.0885
17
1006
0.0169
16
694
0.0231
39
1008
0.0387
73
978
0.0746
262
5008
0.0523163
390770
chr16:75664949:G>C
KARS
NM_005548:c.1338+117C>G
INTRON10
Benign
rs537697641
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
0
1006
0
0
694
0
0
1008
0
5
978
0.0051
5
5008
0.000998403
390771
chr16:75665005:G>A
KARS
NM_005548:c.1338+61C>T
INTRON10
Benign
rs7187847
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
649
1322
0.4909
77
1006
0.0765
41
694
0.0591
46
1008
0.0456
126
978
0.1288
939
5008
0.1875
390772
chr16:75665006:G>A
KARS
NM_005548:c.1338+60C>T
INTRON10
Unknown significance
rs754928857
This variant is a VUS because it does not have enough information.
390773
chr16:75665009:A>G
KARS
NM_005548:c.1338+57T>C
INTRON10
Unknown significance
rs548817586
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
390774
chr16:75665010:G>A
KARS
NM_005548:c.1338+56C>T
INTRON10
Unknown significance
rs571239491
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
390775
chr16:75665016:A>G
KARS
NM_005548:c.1338+50T>C
INTRON10
Unknown significance
rs779203788
This variant is a VUS because it does not have enough information.
390776
chr16:75665018:C>T
KARS
NM_005548:c.1338+48G>A
INTRON10
Unknown significance
rs748210287
This variant is a VUS because it does not have enough information.
0
8042
0
0
7380
0
0
5946
0
0
4652
0
2
50396
0.0000396857
0
702
0
0
13736
0
2
90854
0.0000220133
390777
chr16:75665019:A>G
KARS
NM_005548:c.1338+47T>C
INTRON10
Benign
rs7189895
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
2637
8600
0.306628
2946
4396
0.670155
5583
12996
0.429594
967
1322
0.7315
324
1006
0.3221
383
694
0.5519
876
1008
0.869
509
978
0.5204
3059
5008
0.610823
5730
8288
0.691361
4554
7686
0.592506
5678
6364
0.892206
1638
4706
0.348066
16767
50958
0.329036
314
710
0.442254
6526
14004
0.46601
41207
92716
0.444443
390778
chr16:75665025:C>A
KARS
NM_005548:c.1338+41G>T
INTRON10
Unknown significance
rs369043605
This variant is a VUS because it does not have enough information.
1
8598
0.000116306
0
4396
0
1
12994
0.0000769586
0
8580
0
0
8218
0
0
6612
0
0
4860
0
1
52570
0.0000190223
0
728
0
0
14168
0
1
95736
0.0000104454
390779
chr16:75665028:C>T
KARS
NM_005548:c.1338+38G>A
INTRON10
Unknown significance
rs747369627
This variant is a VUS because it does not have enough information.
0
8580
0
0
8266
0
0
6636
0
0
4890
0
1
52868
0.000018915
0
730
0
0
14184
0
1
96154
0.0000104
390780
chr16:75665032:T>C
KARS
NM_005548:c.1338+34A>G
INTRON10
Unknown significance
rs771256082
This variant is a VUS because it does not have enough information.
0
8638
0
4
8350
0.000479042
0
6712
0
0
4942
0
0
53320
0
0
734
0
0
14270
0
4
96966
0.0000412516
390781
chr16:75665042:T>C
KARS
NM_005548:c.1338+24A>G
INTRON10
Unknown significance
rs776157629
This variant is a VUS because it does not have enough information.
0
8740
0
0
8536
0
4
6846
0.000584283
0
5028
0
0
54304
0
0
744
0
0
14400
0
4
98598
0.0000405688
390782
chr16:75665050:G>C
KARS
NM_005548:c.1338+16C>G
INTRON10
Unknown significance
rs759241436
This variant is a VUS because it does not have enough information.
0
8884
0
0
8914
0
1
7030
0.000142248
0
5158
0
0
55816
0
0
768
0
0
14600
0
1
101170
0.00000988435
390783
chr16:75665053:A>G
KARS
NM_005548:c.1338+13T>C
INTRON10
Unknown significance
rs769429317
This variant is a VUS because it does not have enough information.
0
8964
0
0
9130
0
0
7172
0
0
5232
0
0
56700
0
0
780
0
1
14662
0.0000682035
1
102640
0.00000974279
390784
chr16:75665054:GG>-
KARS
NM_005548:c.1338+12_1338+15delCC
INTRON10
Unknown significance
rs201957065
This variant is a VUS because it does not have enough information.
0
8964
0
0
9130
0
5
7172
0.000697156
0
5232
0
0
56700
0
0
780
0
0
14662
0
5
102640
0.000048714
390785
chr16:75665055:G>A
KARS
NM_005548:c.1338+11C>T
INTRON10
Unknown significance
rs775019458
This variant is a VUS because it does not have enough information.
0
9018
0
0
9252
0
0
7210
0
0
5282
0
1
57168
0.0000174923
0
782
0
0
14746
0
1
103458
0.00000966576
390786
chr16:75665056:G>A
KARS
NM_005548:c.1338+10C>T
INTRON10
Unknown significance
rs762426497
This variant is a VUS because it does not have enough information.
0
9054
0
0
9304
0
1
7254
0.000137855
0
5314
0
0
57444
0
0
790
0
0
14760
0
1
103920
0.00000962279
390787
chr16:75665057:C>G
KARS
NM_005548:c.1338+9G>C
INTRON10
Unknown significance
rs763960268
This variant is a VUS because it does not have enough information.
0
9086
0
0
9356
0
0
7278
0
0
5336
0
1
57662
0.0000173424
0
790
0
0
14804
0
1
104312
0.00000958662
390788
chr16:75665069:G>C
KARS
NM_005548:p.Asp445Glu
NM_005548:c.1335C>G
EXON10
Unknown significance
rs751474072
This variant is a VUS because it does not have enough information.
0.208
N
0.007;0.008
D
0.585;0.999
P;D
0
D
1
D;D;D
2.24
C
0
9430
0
0
10124
0
0
7870
0
0
5624
0
1
60962
0.0000164037
0
822
0
0
15230
0
1
110062
0.00000908579
390789
chr16:75665092:G>A
KARS
NM_005548:p.Arg438Trp
NM_005548:c.1312C>T
EXON10
Pathogenic
Visual loss, progressive microcephaly, developmental delay, seizures, and abnormal subcortical white matter
25330800
rs761527468
Pathogenicity is based on the literature provided in PubMed.
1.048
C
0.038;0.067
D;T
0.095;0.733
B;P
0
D
1
D;D;D
3.94
C
0
9844
0
1
10818
0.0000924385
0
8328
0
0
5982
0
0
63998
0
0
850
0
0
15764
0
1
115584
0.00000865172
390790
chr16:75665096:T>C
KARS
NM_005548:p.Pro436Pro
NM_005548:c.1308A>G
EXON10
Unknown significance
rs767405343
This variant is a VUS because it does not have enough information.
0
9862
0
0
10870
0
0
8370
0
0
6012
0
1
64226
0.00001557
0
852
0
0
15806
0
1
115998
0.00000862084
390791
chr16:75665098:G>A
KARS
NM_005548:p.Pro436Ser
NM_005548:c.1306C>T
EXON10
Unknown significance
rs750240137
This variant is a VUS because it does not have enough information.
1.048
C
0.021
D
0.01;0.009
B
0.000061
D
0.999954
D;D;D
2.62
C
0
9894
0
0
10904
0
0
8378
0
0
6042
0
0
64386
0
0
860
0
1
15830
0.0000631712
1
116294
0.0000085989
390792
chr16:75665100:G>C
KARS
NM_005548:p.Pro435Arg
NM_005548:c.1304C>G
EXON10
Unknown significance
rs755292539
This variant is a VUS because it does not have enough information.
1.048
C
0.003;0.001
D
0.457;0.986
P;D
0
D
1
D;D;D
5.91
C
0
9904
0
0
10932
0
0
8404
0
0
6056
0
2
64452
0.0000310308
0
862
0
0
15858
0
2
116468
0.0000171721
390793
chr16:75665102:G>A
KARS
NM_005548:p.Cys434Cys
NM_005548:c.1302C>T
EXON10
Unknown significance
rs779257362
This variant is a VUS because it does not have enough information.
0
9910
0
0
10950
0
0
8418
0
0
6072
0
1
64538
0.0000154947
0
862
0
0
15882
0
1
116632
0.00000857398
390794
chr16:75665106:T>C
KARS
NM_005548:p.Glu433Gly
NM_005548:c.1298A>G
EXON10
Unknown significance
rs146588850
This variant is a VUS because it does not have enough information.
1.061
C
0.002;0.001
D
0.203;0.997
B;D
0
D
1
D;D;D
5.91
C
0
8600
0
1
4396
0.00022748
1
12996
0.0000769468
1
9970
0.000100301
0
11002
0
0
8442
0
0
6094
0
0
64698
0
0
866
0
0
15924
0
1
116996
0.0000085473
390795
chr16:75665110:C>T
KARS
NM_005548:p.Val432Ile
NM_005548:c.1294G>A
EXON10
Likely benign
rs367724914
Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic.
0.065
N
0.321;0.287
T
0.0;0.001
B
0.0002
N
1
D;D;D
1.87
C
1
8600
0.000116279
0
4396
0
1
12996
0.0000769468
390796
chr16:75665117:T>G
KARS
NM_005548:p.Ala429Ala
NM_005548:c.1287A>C
EXON10
Unknown significance
rs758468945
This variant is a VUS because it does not have enough information.
0
9992
0
1
11046
0.0000905305
0
8448
0
0
6144
0
0
64854
0
0
868
0
0
15994
0
1
117346
0.00000852181
390797
chr16:75665118:G>A
KARS
NM_005548:p.Ala429Val
NM_005548:c.1286C>T
EXON10
Unknown significance
rs778142378
This variant is a VUS because it does not have enough information.
1.048
C
0.03;0.027
D
0.0
B
0.010165
N
0.705707
D;D;N
3.84
C
0
9998
0
0
11046
0
0
8450
0
0
6152
0
0
64862
0
0
866
0
1
16000
0.0000625
1
117374
0.00000851977
390798
chr16:75665120:CA>-
KARS
NM_005548:c.1284_1287delTG
EXON10
Unknown significance
rs761083503
This variant is a VUS because it does not have enough information.
0
9990
0
0
11038
0
0
8444
0
0
6150
0
1
64832
0.0000154245
0
866
0
0
15988
0
1
117308
0.00000852457
390799
chr16:75665126:G>C
KARS
NM_005548:p.Ile426Met
NM_005548:c.1278C>G
EXON10
Unknown significance
rs371668969
This variant is a VUS because it does not have enough information.
0.154
N
0.025;0.028
D
0.018;0.275
B
0.000003
D
0.999809
D;D;D
4.95
C
1
8600
0.000116279
0
4396
0
1
12996
0.0000769468
0
10010
0
0
11070
0
0
8428
0
0
6188
0
1
64880
0.0000154131
0
880
0
0
16040
0
1
117496
0.00000851093
390800
chr16:75665127:A>C
KARS
NM_005548:p.Ile426Ser
NM_005548:c.1277T>G
EXON10
Unknown significance
rs771325159
This variant is a VUS because it does not have enough information.
1.199
C
0.004
D
0.235;0.644
B;P
0.000003
D
0.999999
D;D;D
5.91
C
0
10014
0
0
11074
0
1
8422
0.000118737
0
6190
0
0
64926
0
0
880
0
0
16048
0
1
117554
0.00000850673
390802
chr16:75665129:A>G
KARS
NM_005548:p.Asp425Asp
NM_005548:c.1275T>C
EXON10
Unknown significance
rs779241883
This variant is a VUS because it does not have enough information.
0
10008
0
0
11052
0
0
8410
0
2
6186
0.000323311
20
64884
0.000308242
0
878
0
0
16048
0
22
117466
0.000187288
390801
chr16:75665129:ATC>-
KARS
NM_005548:c.1275_1279delGAT
EXON10
Unknown significance
rs764308156
This variant is a VUS because it does not have enough information.
390803
chr16:75665133:T>C
KARS
NM_005548:p.Asp424Gly
NM_005548:c.1271A>G
EXON10
Unknown significance
rs746198033
This variant is a VUS because it does not have enough information.
1.061
C
0.258;0.254
T
0.518;0.963
P;D
0
D
1
D;D;D
5.91
C
0
10004
0
0
11040
0
0
8384
0
0
6190
0
1
64878
0.0000154135
0
876
0
0
16050
0
1
117422
0.00000851629
390804
chr16:75665134:C>G
KARS
NM_005548:p.Asp424His
NM_005548:c.1270G>C
EXON10
Unknown significance
rs769484182
This variant is a VUS because it does not have enough information.
0.935
N
0.082;0.081
T
0.5;0.999
P;D
0
D
1
D;D;D
5.91
C
390805
chr16:75665134:C>T
KARS
NM_005548:p.Asp424Asn
NM_005548:c.1270G>A
EXON10
Unknown significance
rs769484182
This variant is a VUS because it does not have enough information.
0.935
N
0.34;0.335
T
0.012;0.105
B
0
D
1
D;D;D
5.91
C
390806
chr16:75665139:A>G
KARS
NM_005548:p.Ile422Thr
NM_005548:c.1265T>C
EXON10
Unknown significance
rs762481405
This variant is a VUS because it does not have enough information.
1.199
C
0.014;0.011
D
0.002;0.029
B
0.000003
D
0.987462
D;D;D
5.91
C
0
10002
0
0
11028
0
1
8356
0.000119674
0
6208
0
0
64820
0
0
874
0
0
16048
0
1
117336
0.00000852253
390807
chr16:75665140:T>G
KARS
NM_005548:p.Ile422Leu
NM_005548:c.1264A>C
EXON10
Unknown significance
rs768155959
This variant is a VUS because it does not have enough information.
1.061
C
0.172;0.115
T
0.0
B
0.000003
N
0.750051
D;D;D
4.79
C
0
10000
0
0
11016
0
0
8330
0
0
6206
0
1
64726
0.0000154497
0
874
0
0
16046
0
1
117198
0.00000853257
390808
chr16:75665142:T>C
KARS
NM_005548:p.Lys421Arg
NM_005548:c.1262A>G
EXON10
Unknown significance
rs554125088
This variant is a VUS because it does not have enough information.
1.061
C
0.097;0.104
T
0.0;0.013
B
0.000001
N
0.999936
D;D;D
2.47
C
0
1322
0
0
1006
0
0
694
0
0
1008
0
2
978
0.002
2
5008
0.000399361
0
10002
0
0
11016
0
0
8332
0
0
6208
0
1
64734
0.0000154478
0
874
0
0
16048
0
1
117214
0.0000085314
390809
chr16:75665145:C>T
KARS
NM_005548:p.Arg420His
NM_005548:c.1259G>A
EXON10
Unknown significance
rs201574004
This variant is a VUS because it does not have enough information.
0.935
N
0.306;0.222
T
0.111;0.357
B
0
D
1
D;D;D
5.91
C
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
0
9972
0
0
10956
0
1
8304
0.000120424
0
6196
0
3
64494
0.000046516
0
872
0
1
16024
0.0000624064
5
116818
0.0000428016
390810
chr16:75665146:G>A
KARS
NM_005548:p.Arg420Cys
NM_005548:c.1258C>T
EXON10
Unknown significance
rs77573084
This variant is a VUS because it does not have enough information.
1.048
C
0.118;0.091
T
0.421;1.0
B;D
0
D
1
D;D;D
5.91
C
26
8600
0.00302326
4
4396
0.000909918
30
12996
0.0023084
0
1322
0
3
1006
0.003
0
694
0
0
1008
0
0
978
0
3
5008
0.000599042
5
9984
0.000500801
1
10970
0.0000911577
0
8296
0
1
6204
0.000161186
155
64564
0.00240072
0
870
0
0
16048
0
162
116936
0.00138537
390811
chr16:75665148:G>A
KARS
NM_005548:p.Thr419Ile
NM_005548:c.1256C>T
EXON10
Unknown significance
rs773192982
This variant is a VUS because it does not have enough information.
1.048
C
0.028;0.03
D
0.048;0.679
B;P
0
D
1
D;D;D
5.91
C
3
9986
0.000300421
0
10978
0
0
8294
0
0
6212
0
0
64612
0
0
874
0
0
16056
0
3
117012
0.0000256384
390812
chr16:75665154:G>A
KARS
NM_005548:c.1253-3C>T
INTRON9
Unknown significance
rs374965622
This variant is a VUS because it does not have enough information.
0
8600
0
4
4396
0.000909918
4
12996
0.000307787
5
9968
0.000501605
0
10956
0
0
8268
0
0
6196
0
0
64428
0
0
874
0
0
16046
0
5
116736
0.0000428317
390813
chr16:75665155:G>C
KARS
NM_005548:c.1253-4C>G
INTRON9
Unknown significance
rs765591392
This variant is a VUS because it does not have enough information.