ClinVar Miner

Variants with conflicting interpretations studied for Ataxia-telangiectasia syndrome

Coded as:
Minimum review status of the submission for Ataxia-telangiectasia syndrome: Y axis collection method of the submission for Ataxia-telangiectasia syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
1759 1582 0 253 235 2 37 497

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Ataxia-telangiectasia syndrome pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 150 6 1 0 1
likely pathogenic 137 0 14 0 0 1
uncertain significance 8 22 0 204 30 0
likely benign 2 0 40 0 67 1
benign 1 0 8 38 0 1

Condition to condition summary #

Total conditions: 13
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Hereditary cancer-predisposing syndrome 0 1462 0 184 191 0 26 388
not provided 0 753 0 156 82 0 10 230
Ataxia-telangiectasia syndrome 3338 341 0 139 13 0 10 159
not specified 0 174 0 62 82 0 0 135
Familial cancer of breast; Ataxia-telangiectasia syndrome 0 88 0 12 2 0 0 14
Familial cancer of breast 0 5 0 6 1 0 1 8
Ataxia-telangiectasia variant 0 2 0 3 0 0 1 4
Hereditary breast and ovarian cancer syndrome 0 0 0 2 0 0 1 3
Breast cancer, susceptibility to 0 2 0 0 0 2 0 2
Neoplasm of the breast 0 0 0 1 0 0 1 2
B-cell non-Hodgkin lymphoma 0 0 0 0 0 0 1 1
Malignant Glioma 0 0 0 1 0 0 0 1
T-cell prolymphocytic leukemia 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 497
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.-15C>T rs1204830852
NM_000051.3(ATM):c.-328A>T rs4987880
NM_000051.3(ATM):c.1010G>A (p.Arg337His) rs202160435
NM_000051.3(ATM):c.1021G>A (p.Val341Ile) rs200601781
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1073A>G (p.Asn358Ser) rs149636614
NM_000051.3(ATM):c.1082C>A (p.Thr361Asn) rs1565378803
NM_000051.3(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.3(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.3(ATM):c.1132A>G (p.Ser378Gly) rs587779811
NM_000051.3(ATM):c.1138T>A (p.Tyr380Asn) rs34083085
NM_000051.3(ATM):c.1139_1142dup (p.Ser381fs) rs886041340
NM_000051.3(ATM):c.1160A>G (p.Lys387Arg) rs876659755
NM_000051.3(ATM):c.1176C>G (p.Gly392=) rs1800727
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1235+3A>G rs1417190414
NM_000051.3(ATM):c.1235+5A>T rs1064793679
NM_000051.3(ATM):c.1236-2A>G rs80159221
NM_000051.3(ATM):c.1236-2A>T rs80159221
NM_000051.3(ATM):c.1236-3T>C rs763976313
NM_000051.3(ATM):c.1236-3del rs34325032
NM_000051.3(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.3(ATM):c.1254A>G (p.Gln418=) rs4987943
NM_000051.3(ATM):c.125A>G (p.His42Arg) rs201773026
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.1335A>G (p.Gln445=) rs1385656085
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.3(ATM):c.1359A>G (p.Pro453=) rs786203693
NM_000051.3(ATM):c.1380G>A (p.Thr460=) rs145333518
NM_000051.3(ATM):c.1435_1436del (p.Asp479fs) rs1555070947
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1444A>C (p.Lys482Gln) rs202173660
NM_000051.3(ATM):c.1464G>T (p.Trp488Cys) rs377597949
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.1511A>G (p.Asn504Ser) rs56365018
NM_000051.3(ATM):c.1516G>T (p.Gly506Cys) rs587779816
NM_000051.3(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.3(ATM):c.1607+1G>T rs772926890
NM_000051.3(ATM):c.1608-3T>C rs774196176
NM_000051.3(ATM):c.1614A>G (p.Ala538=) rs876659636
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.1648A>G (p.Ile550Val) rs202144949
NM_000051.3(ATM):c.1655del (p.Pro552fs) rs1057516876
NM_000051.3(ATM):c.1689G>A (p.Met563Ile) rs786202469
NM_000051.3(ATM):c.1695A>G (p.Glu565=) rs780932013
NM_000051.3(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1754dup (p.Leu585fs) rs1555072012
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.1855A>C (p.Asn619His) rs140882609
NM_000051.3(ATM):c.186A>G (p.Arg62=) rs876658224
NM_000051.3(ATM):c.1884A>G (p.Gln628=) rs1555072578
NM_000051.3(ATM):c.1887C>T (p.Ser629=) rs143097772
NM_000051.3(ATM):c.1898+2T>G rs587782124
NM_000051.3(ATM):c.1902A>G (p.Glu634=) rs1060501633
NM_000051.3(ATM):c.1915_1916insT (p.Asp639fs) rs1060501610
NM_000051.3(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.3(ATM):c.1960C>A (p.Gln654Lys) rs528165789
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.3(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.3(ATM):c.2021A>G (p.His674Arg) rs201762714
NM_000051.3(ATM):c.2023C>T (p.Gln675Ter) rs777849257
NM_000051.3(ATM):c.202A>G (p.Ile68Val) rs35389822
NM_000051.3(ATM):c.2043T>A (p.Ser681=) rs746422877
NM_000051.3(ATM):c.2074C>T (p.Arg692Cys) rs765965513
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2124+6A>T rs550998406
NM_000051.3(ATM):c.2127T>C (p.Ile709=) rs56252953
NM_000051.3(ATM):c.2127T>G (p.Ile709Met) rs56252953
NM_000051.3(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.3(ATM):c.2193C>T (p.Tyr731=) rs2229019
NM_000051.3(ATM):c.2220A>G (p.Ala740=) rs56353517
NM_000051.3(ATM):c.2222A>G (p.Tyr741Cys) rs878853492
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2251-1G>C rs876659710
NM_000051.3(ATM):c.2262A>G (p.Gln754=) rs778320952
NM_000051.3(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.3(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2376+1G>T rs730881347
NM_000051.3(ATM):c.2377-5T>C rs754206007
NM_000051.3(ATM):c.2377-6T>A rs876660963
NM_000051.3(ATM):c.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.3(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.3(ATM):c.2396C>T (p.Ala799Val) rs199954262
NM_000051.3(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.3(ATM):c.2446_2447delinsCT (p.Ala816Leu) rs587781956
NM_000051.3(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.3(ATM):c.2466A>G (p.Leu822=) rs747108452
NM_000051.3(ATM):c.2476A>C (p.Ile826Leu) rs587782397
NM_000051.3(ATM):c.2494C>T (p.Arg832Cys) rs2229022
NM_000051.3(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.3(ATM):c.2522A>C (p.Asp841Ala) rs587781812
NM_000051.3(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2583C>A (p.Tyr861Ter) rs886039633
NM_000051.3(ATM):c.2606C>G (p.Ala869Gly) rs145513717
NM_000051.3(ATM):c.2606_2607del (p.Ala869fs) rs1057516944
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.2634C>G (p.Thr878=) rs771444818
NM_000051.3(ATM):c.2638+2T>C rs587779826
NM_000051.3(ATM):c.2638+3A>G rs876660552
NM_000051.3(ATM):c.2638+6T>C rs768305533
NM_000051.3(ATM):c.2685A>G (p.Leu895=) rs3218687
NM_000051.3(ATM):c.2716T>A (p.Leu906Met) rs368047468
NM_000051.3(ATM):c.2735A>G (p.Gln912Arg) rs730881353
NM_000051.3(ATM):c.2748G>T (p.Val916=) rs1050470790
NM_000051.3(ATM):c.2778A>G (p.Lys926=) rs372569168
NM_000051.3(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.3(ATM):c.2804C>T (p.Thr935Met) rs3218708
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2836A>G (p.Met946Val) rs587781992
NM_000051.3(ATM):c.2839-18dup rs730881287
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.3(ATM):c.2887A>G (p.Met963Val) rs374353016
NM_000051.3(ATM):c.2913A>G (p.Lys971=) rs1057522291
NM_000051.3(ATM):c.2919A>G (p.Leu973=) rs587779829
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2921+1G>C rs587781558
NM_000051.3(ATM):c.2921+1G>T rs587781558
NM_000051.3(ATM):c.2921+2dup rs1565424654
NM_000051.3(ATM):c.2922-8T>A rs545892367
NM_000051.3(ATM):c.2922-8del rs373881770
NM_000051.3(ATM):c.2927T>C (p.Val976Ala) rs146145357
NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.2937G>T (p.Leu979Phe) rs1166904824
NM_000051.3(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3012C>T (p.Ser1004=) rs751260996
NM_000051.3(ATM):c.3016A>G (p.Met1006Val) rs139893395
NM_000051.3(ATM):c.3024dup (p.Glu1009Ter) rs1555085172
NM_000051.3(ATM):c.3077+4G>A rs201222237
NM_000051.3(ATM):c.3078-1G>A rs750663117
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3126A>G (p.Leu1042=) rs770038542
NM_000051.3(ATM):c.3154-5C>T rs55719759
NM_000051.3(ATM):c.3190A>G (p.Met1064Val) rs79431304
NM_000051.3(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.3(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.3(ATM):c.3242A>G (p.Asn1081Ser) rs368111672
NM_000051.3(ATM):c.3283A>C (p.Arg1095=) rs876660302
NM_000051.3(ATM):c.3285-9del rs1799757
NM_000051.3(ATM):c.3295G>A (p.Asp1099Asn) rs372966951
NM_000051.3(ATM):c.3299C>T (p.Thr1100Met) rs189445371
NM_000051.3(ATM):c.331+5G>A rs752135143
NM_000051.3(ATM):c.332-3T>C rs376116157
NM_000051.3(ATM):c.3336T>A (p.Pro1112=) rs758784434
NM_000051.3(ATM):c.3341A>G (p.Lys1114Arg) rs777705500
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
NM_000051.3(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.3(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833
NM_000051.3(ATM):c.3378A>G (p.Lys1126=) rs149182949
NM_000051.3(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3402+5T>C rs1057520229
NM_000051.3(ATM):c.3403-15T>A rs79701258
NM_000051.3(ATM):c.3403-3A>C rs374866638
NM_000051.3(ATM):c.3467C>T (p.Thr1156Met) rs759951393
NM_000051.3(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.3(ATM):c.3543A>G (p.Lys1181=) rs1555091382
NM_000051.3(ATM):c.3577-13T>C rs587780856
NM_000051.3(ATM):c.3577-6G>A rs56006345
NM_000051.3(ATM):c.3577-7C>T rs558667657
NM_000051.3(ATM):c.3613C>T (p.Arg1205Cys) rs760928285
NM_000051.3(ATM):c.3614G>A (p.Arg1205His) rs769106895
NM_000051.3(ATM):c.3689A>G (p.Asn1230Ser) rs587782195
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.3746+4A>C rs1555092593
NM_000051.3(ATM):c.3747-10C>G rs775274473
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.3777G>A (p.Leu1259=) rs780192529
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.3(ATM):c.3806A>G (p.Lys1269Arg) rs146017595
NM_000051.3(ATM):c.3831G>C (p.Glu1277Asp) rs587781787
NM_000051.3(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.3927A>G (p.Ala1309=) rs1555093665
NM_000051.3(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.3(ATM):c.3964C>A (p.Leu1322Ile) rs144535256
NM_000051.3(ATM):c.3993+1G>A rs200196781
NM_000051.3(ATM):c.3994-11_3994-4del rs1060501665
NM_000051.3(ATM):c.3994-2A>G rs587782276
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.3(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.3(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.3(ATM):c.4066A>G (p.Asn1356Asp) rs147600485
NM_000051.3(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640
NM_000051.3(ATM):c.4109+6T>C rs368606937
NM_000051.3(ATM):c.4111delG rs797045114
NM_000051.3(ATM):c.411C>T (p.Tyr137=) rs756160533
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4167A>G (p.Thr1389=) rs183214437
NM_000051.3(ATM):c.4237-9_4237-7del rs1555097355
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4279G>A (p.Ala1427Thr) rs2229021
NM_000051.3(ATM):c.4299T>C (p.Tyr1433=) rs886047612
NM_000051.3(ATM):c.42A>G (p.Gln14=) rs771378101
NM_000051.3(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.3(ATM):c.4324T>C (p.Tyr1442His) rs201666889
NM_000051.3(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.4402G>A (p.Val1468Ile) rs369903995
NM_000051.3(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.3(ATM):c.4436+2T>C rs1555097898
NM_000051.3(ATM):c.4437-1G>C rs759520465
NM_000051.3(ATM):c.4437-7A>G rs370354306
NM_000051.3(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164
NM_000051.3(ATM):c.4576C>T (p.Pro1526Ser) rs748898098
NM_000051.3(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.3(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.3(ATM):c.4606A>G (p.Lys1536Glu) rs587779841
NM_000051.3(ATM):c.4612-4T>G rs569983068
NM_000051.3(ATM):c.4626G>A (p.Leu1542=) rs786202784
NM_000051.3(ATM):c.4629A>G (p.Lys1543=) rs745565564
NM_000051.3(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.3(ATM):c.4703A>G (p.His1568Arg) rs368830730
NM_000051.3(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.4753A>G (p.Arg1585Gly) rs781275128
NM_000051.3(ATM):c.4776+1G>T rs771117943
NM_000051.3(ATM):c.4776+2_4776+13del rs762838462
NM_000051.3(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.3(ATM):c.4802G>A (p.Ser1601Asn) rs587782506
NM_000051.3(ATM):c.482A>C (p.Gln161Pro) rs587780625
NM_000051.3(ATM):c.4853G>A (p.Arg1618Gln) rs765759912
NM_000051.3(ATM):c.48A>G (p.Glu16=) rs774768437
NM_000051.3(ATM):c.4909+3G>A rs778685122
NM_000051.3(ATM):c.4910-4C>T rs786202493
NM_000051.3(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.3(ATM):c.496+4T>C rs587781375
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.497-4dup rs768748099
NM_000051.3(ATM):c.4975A>G (p.Ile1659Val) rs778632065
NM_000051.3(ATM):c.5005+7_5005+8del rs587780626
NM_000051.3(ATM):c.5006-8A>G rs1057520447
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.5089A>G (p.Thr1697Ala) rs142455912
NM_000051.3(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.3(ATM):c.5177+5G>A rs759373136
NM_000051.3(ATM):c.5185G>C (p.Val1729Leu) rs3092907
NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter) rs764389018
NM_000051.3(ATM):c.5190A>G (p.Arg1730=) rs786201609
NM_000051.3(ATM):c.5209_5210del (p.Leu1737fs) rs1555105660
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.5319+3C>A rs371640963
NM_000051.3(ATM):c.5319+6_5319+7del rs777478613
NM_000051.3(ATM):c.5320-10T>C rs864622731
NM_000051.3(ATM):c.5320-5_5320-2del rs730881310
NM_000051.3(ATM):c.5352C>T (p.Asn1784=) rs140641762
NM_000051.3(ATM):c.5354C>A (p.Pro1785His) rs1555106368
NM_000051.3(ATM):c.5375T>C (p.Ile1792Thr) rs776309355
NM_000051.3(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.3(ATM):c.544G>C (p.Val182Leu) rs3218707
NM_000051.3(ATM):c.5456C>T (p.Thr1819Ile) rs760060843
NM_000051.3(ATM):c.5460dup (p.Cys1821fs) rs1057516760
NM_000051.3(ATM):c.5475A>G (p.Gln1825=) rs1555106560
NM_000051.3(ATM):c.5488A>G (p.Met1830Val) rs587781622
NM_000051.3(ATM):c.5497-2A>C rs786203796
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.3(ATM):c.5524C>T (p.Leu1842Phe) rs956546711
NM_000051.3(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.3(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.3(ATM):c.5618G>A (p.Cys1873Tyr) rs587782239
NM_000051.3(ATM):c.5630T>C (p.Phe1877Ser) rs202028401
NM_000051.3(ATM):c.5637A>G (p.Gln1879=) rs587781993
NM_000051.3(ATM):c.5644C>T (p.Arg1882Ter) rs786204433
NM_000051.3(ATM):c.566G>A (p.Arg189Lys) rs79075295
NM_000051.3(ATM):c.5674+6C>G rs780204400
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.3(ATM):c.5762+6G>A rs776532221
NM_000051.3(ATM):c.5763A>G (p.Arg1921=) rs1057523784
NM_000051.3(ATM):c.5793T>C (p.Ala1931=) rs3092910
NM_000051.3(ATM):c.5798G>A (p.Trp1933Ter) rs876658740
NM_000051.3(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.3(ATM):c.5890A>G (p.Lys1964Glu) rs201963507
NM_000051.3(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.3(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.3(ATM):c.5994A>T (p.Gly1998=) rs56046250
NM_000051.3(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.3(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.3(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415
NM_000051.3(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.6095+15T>C rs3212321
NM_000051.3(ATM):c.6095+6T>C rs1057522992
NM_000051.3(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.3(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.3(ATM):c.6144A>G (p.Thr2048=) rs1201081443
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6176C>T (p.Thr2059Ile) rs144761622
NM_000051.3(ATM):c.6179G>A (p.Arg2060His) rs376521407
NM_000051.3(ATM):c.6198+1G>A rs778031266
NM_000051.3(ATM):c.6198+5A>G rs771047560
NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.3(ATM):c.6235G>A (p.Val2079Ile) rs1800060
NM_000051.3(ATM):c.6246A>G (p.Lys2082=) rs745977589
NM_000051.3(ATM):c.6338C>G (p.Thr2113Ser) rs573290117
NM_000051.3(ATM):c.6347+1G>A rs1057517120
NM_000051.3(ATM):c.6347+31del rs58978479
NM_000051.3(ATM):c.6347+4A>G rs1342227995
NM_000051.3(ATM):c.6347+6A>C rs750501197
NM_000051.3(ATM):c.6348-9A>T
NM_000051.3(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.3(ATM):c.6382T>C (p.Leu2128=) rs753646931
NM_000051.3(ATM):c.6385T>G (p.Tyr2129Asp) rs876658542
NM_000051.3(ATM):c.6399A>G (p.Gln2133=) rs750614487
NM_000051.3(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.3(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.3(ATM):c.6443A>G (p.Lys2148Arg) rs730881382
NM_000051.3(ATM):c.6452+2T>C rs1064795006
NM_000051.3(ATM):c.6452+5T>A rs533830556
NM_000051.3(ATM):c.6543G>T (p.Glu2181Asp) rs138828590
NM_000051.3(ATM):c.6572+12G>T rs3218677
NM_000051.3(ATM):c.6572+1G>A rs587779856
NM_000051.3(ATM):c.6572+4T>C rs587780636
NM_000051.3(ATM):c.6573-41del
NM_000051.3(ATM):c.657T>C (p.Cys219=) rs2235003
NM_000051.3(ATM):c.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.3(ATM):c.660G>A (p.Ala220=) rs763669136
NM_000051.3(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.3(ATM):c.6681C>T (p.Arg2227=) rs775850434
NM_000051.3(ATM):c.6795C>T (p.Phe2265=) rs3218699
NM_000051.3(ATM):c.6807+8del rs1555119385
NM_000051.3(ATM):c.6820G>A (p.Ala2274Thr) rs567060474
NM_000051.3(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.3(ATM):c.6891A>G (p.Gln2297=) rs773545588
NM_000051.3(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.6975+13dup rs763287238
NM_000051.3(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.3(ATM):c.6976-10_6989del rs587779859
NM_000051.3(ATM):c.6988C>G (p.Leu2330Val) rs148432863
NM_000051.3(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000051.3(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.3(ATM):c.7187C>G (p.Thr2396Ser) rs370559102
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7294A>T (p.Ile2432Phe) rs587781838
NM_000051.3(ATM):c.73-3C>G rs1555054039
NM_000051.3(ATM):c.7308-10T>C rs745319720
NM_000051.3(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.3(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.3(ATM):c.7328G>A (p.Arg2443Gln) rs587782310
NM_000051.3(ATM):c.7358G>A (p.Arg2453His) rs587781361
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) rs55801750
NM_000051.3(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.7456C>T (p.Arg2486Ter) rs587779865
NM_000051.3(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7494T>C (p.Ser2498=) rs34393781
NM_000051.3(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.3(ATM):c.7515+20A>G rs80124497
NM_000051.3(ATM):c.7618G>A (p.Val2540Ile) rs35203200
NM_000051.3(ATM):c.7629+12_7629+15del rs1555124156
NM_000051.3(ATM):c.7629T>C (p.Asn2543=) rs767123895
NM_000051.3(ATM):c.7629_7629+4del rs876660041
NM_000051.3(ATM):c.7630-2A>G rs587779866
NM_000051.3(ATM):c.7630-3C>T rs587782448
NM_000051.3(ATM):c.7740A>C (p.Arg2580Ser) rs199915459
NM_000051.3(ATM):c.7757A>G (p.Asn2586Ser) rs587778079
NM_000051.3(ATM):c.7775C>G (p.Ser2592Cys) rs755009196
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.3(ATM):c.7789-3T>G rs864622185
NM_000051.3(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.3(ATM):c.7816A>G (p.Ile2606Val) rs376824528
NM_000051.3(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.3(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.3(ATM):c.7919C>T (p.Thr2640Ile) rs4988125
NM_000051.3(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.3(ATM):c.7927+5del rs786204437
NM_000051.3(ATM):c.7951C>T (p.Gln2651Ter) rs587781994
NM_000051.3(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.3(ATM):c.7988T>C (p.Val2663Ala) rs377648506
NM_000051.3(ATM):c.7997C>A (p.Thr2666Asn) rs730881384
NM_000051.3(ATM):c.8011-6T>G rs762092284
NM_000051.3(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.3(ATM):c.8030A>G (p.Tyr2677Cys) rs28942103
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.3(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.3(ATM):c.8266A>T (p.Lys2756Ter) rs371638537
NM_000051.3(ATM):c.8268+6T>A rs747153940
NM_000051.3(ATM):c.8269-14A>T rs114320959
NM_000051.3(ATM):c.8293G>A (p.Gly2765Ser) rs748634900
NM_000051.3(ATM):c.829G>T (p.Glu277Ter) rs876660933
NM_000051.3(ATM):c.8307G>A (p.Trp2769Ter) rs778269655
NM_000051.3(ATM):c.8353G>A (p.Asp2785Asn) rs587782417
NM_000051.3(ATM):c.8391T>C (p.Ser2797=) rs566485657
NM_000051.3(ATM):c.8419-19A>G rs12279930
NM_000051.3(ATM):c.8425C>T (p.Gln2809Ter) rs1555137973
NM_000051.3(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.3(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000051.3(ATM):c.8530A>G (p.Ile2844Val) rs756230327
NM_000051.3(ATM):c.8549T>A (p.Leu2850Ter) rs876658716
NM_000051.3(ATM):c.8560C>T (p.Arg2854Cys) rs201958469
NM_000051.3(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.3(ATM):c.8584+10T>C rs373321041
NM_000051.3(ATM):c.8584+6C>G rs863224300
NM_000051.3(ATM):c.858A>G (p.Gln286=) rs145301478
NM_000051.3(ATM):c.8592C>T (p.Tyr2864=) rs56025670
NM_000051.3(ATM):c.8629T>C (p.Leu2877=) rs730881279
NM_000051.3(ATM):c.8671+9T>G rs200190537
NM_000051.3(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.3(ATM):c.8725A>T (p.Arg2909Ter) rs1555142845
NM_000051.3(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.3(ATM):c.8757C>T (p.Gly2919=) rs987508358
NM_000051.3(ATM):c.8763G>A (p.Thr2921=) rs781528244
NM_000051.3(ATM):c.8786+1G>A rs17174393
NM_000051.3(ATM):c.8786+1G>T rs17174393
NM_000051.3(ATM):c.8786+8A>C rs4986839
NM_000051.3(ATM):c.8793T>A (p.Cys2931Ter) rs1555143494
NM_000051.3(ATM):c.8921C>T (p.Pro2974Leu) rs139379666
NM_000051.3(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.3(ATM):c.8987+10A>G rs1060504308
NM_000051.3(ATM):c.8987+3G>A rs56360226
NM_000051.3(ATM):c.8988-1G>A rs730881386
NM_000051.3(ATM):c.8993T>C (p.Ile2998Thr) rs778670498
NM_000051.3(ATM):c.8998C>T (p.Gln3000Ter) rs587781698
NM_000051.3(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.3(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000051.3(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000051.3(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000051.3(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter) rs121434219
NM_000051.3(ATM):c.9166G>T (p.Val3056Leu) rs371767164
NM_000051.3(ATM):c.94C>T (p.Arg32Cys) rs148061139
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_001330368.2(C11orf65):c.640+20504dup rs587780645
NM_001330368.2(C11orf65):c.640+20519dup rs1057516282
NM_001330368.2(C11orf65):c.640+20760_640+20771delinsACA rs1064795675
NM_001330368.2(C11orf65):c.640+20812_640+20815del rs786204726
NM_001330368.2(C11orf65):c.640+31072_640+31082del rs758814126
NM_001330368.2(C11orf65):c.640+31095del rs876660567
NM_001330368.2(C11orf65):c.641-1117delinsAGG rs587779851
NM_001330368.2(C11orf65):c.641-1235del rs587782198
NM_001330368.2(C11orf65):c.641-17029del rs876659569
NM_001330368.2(C11orf65):c.641-18595dup rs587781299
NM_001330368.2(C11orf65):c.641-18597_641-18594del rs786203421
NM_001330368.2(C11orf65):c.641-20160_641-20157del rs886039628
NM_001330368.2(C11orf65):c.641-22822_641-22814del rs587776547
NM_001330368.2(C11orf65):c.641-22878_641-22875del rs1060501547
NM_001330368.2(C11orf65):c.641-22881_641-22880del rs759965045
NM_001330368.2(C11orf65):c.641-22943del rs1057517025
NM_001330368.2(C11orf65):c.641-23741TC[3] rs730881293
NM_001330368.2(C11orf65):c.641-23760del rs1555125349
NM_001330368.2(C11orf65):c.641-23782del rs1057516599
NM_001330368.2(C11orf65):c.641-24878ACA[2] rs876660743
NM_001330368.2(C11orf65):c.641-24885dup rs587779869
NM_001330368.2(C11orf65):c.641-3401del rs1555111855
NM_001330368.2(C11orf65):c.641-34174_641-34173del rs879254036
NM_001330368.2(C11orf65):c.641-34255_641-34252del rs1064793046
NM_001330368.2(C11orf65):c.641-34276_641-34267del rs786202800
NM_001330368.2(C11orf65):c.641-36828_641-36826del rs786203976
NM_001351834.2(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_001351834.2(ATM):c.1288_1289TG[1] (p.Cys430_Glu431delinsTer) rs587781598
NM_001351834.2(ATM):c.1402_1403del (p.Lys468fs) rs587781347
NM_001351834.2(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_001351834.2(ATM):c.2282_2283CT[1] (p.Leu762fs) rs587781658
NM_001351834.2(ATM):c.3403-13dup rs3218681
NM_001351834.2(ATM):c.3707_3711TTATT[1] (p.Leu1238fs) rs786201675
NM_001351834.2(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_001351834.2(ATM):c.4096_4097TG[1] (p.Cys1366_Asp1367delinsTer) rs876658248
NM_001351834.2(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_001351834.2(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_001351834.2(ATM):c.5290del (p.Leu1764fs) rs587779846
NM_001351834.2(ATM):c.5763-1050A>G rs774925473
NM_001351834.2(ATM):c.752_753TG[2] (p.Cys252_Glu253delinsTer) rs876659003

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