ClinVar Miner

Variants with conflicting interpretations studied for Thoracic aortic aneurysm and aortic dissection

Coded as:
Minimum review status of the submission for Thoracic aortic aneurysm and aortic dissection: Y axis collection method of the submission for Thoracic aortic aneurysm and aortic dissection:
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
598 763 0 303 229 3 41 508

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
Thoracic aortic aneurysm and aortic dissection pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 13 4 0 0 1
likely pathogenic 25 0 18 3 0 0
uncertain significance 4 18 0 139 47 2
likely benign 2 1 112 0 200 0
benign 1 2 38 146 0 0

Condition to condition summary #

Total conditions: 59
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
not specified 0 196 0 199 115 0 5 298
Cardiovascular phenotype 0 205 0 136 75 0 9 209
not provided 0 156 0 78 60 0 17 150
Thoracic aortic aneurysm and aortic dissection 1629 98 0 81 62 0 3 142
Aortic aneurysm, familial thoracic 4 0 51 0 44 44 0 4 80
Marfan syndrome 0 241 0 45 27 0 9 77
Connective tissue disorder 0 24 0 23 33 0 3 55
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 69 0 40 12 0 1 52
Aortic aneurysm, familial thoracic 7 0 17 0 21 25 0 1 45
Lissencephaly, Recessive 0 47 0 20 12 0 0 32
Acromicric dysplasia 0 134 0 23 7 0 0 29
Geleophysic dysplasia 0 134 0 23 7 0 0 29
Loeys-Dietz syndrome 0 313 0 15 13 0 2 29
MASS syndrome 0 133 0 22 7 0 1 29
Ectopia lentis 0 134 0 22 7 0 0 28
Stiff skin syndrome 0 134 0 22 7 0 0 28
Weill-Marchesani syndrome 0 134 0 22 7 0 0 28
Ehlers-Danlos syndrome, type 4 0 34 0 16 13 0 0 25
Adams-Oliver syndrome 5 0 33 0 7 9 0 0 16
Aortic aneurysm, familial thoracic 6 0 4 0 8 3 0 1 12
Familial aortopathy 0 2 0 8 0 0 0 8
Arterial tortuosity syndrome 0 3 0 4 2 0 1 6
Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 0 4 0 2 3 0 0 5
Loeys-Dietz syndrome 4 0 1 0 3 2 0 0 4
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 0 4 0 4 0 0 0 4
Moyamoya disease 0 18 0 1 3 0 0 4
Multisystemic smooth muscle dysfunction syndrome 0 19 0 1 3 0 0 4
Inborn genetic diseases 0 0 0 0 3 0 0 3
Loeys-Dietz syndrome 1 0 111 0 2 1 0 0 3
Multiple self healing squamous epithelioma 0 0 0 0 0 3 0 3
Aortic aneurysm, familial thoracic 10 0 0 0 2 0 0 0 2
Autoimmune lymphoproliferative syndrome 0 6 0 2 0 0 0 2
Congenital aneurysm of ascending aorta 0 0 0 1 1 0 0 2
Congenital contractural arachnodactyly 0 2 0 0 2 0 0 2
Ehlers-Danlos syndrome, classic type 0 3 0 2 0 0 0 2
Familial thoracic aortic aneurysm; Acute aortic dissection 0 2 0 2 0 0 0 2
Hereditary cancer-predisposing syndrome 0 2 0 2 0 0 0 2
Holt-Oram syndrome 0 3 0 1 2 0 0 2
Juvenile Polyposis 0 1 0 1 1 0 0 2
Myhre syndrome 0 1 0 1 1 0 0 2
Osler hemorrhagic telangiectasia syndrome 0 1 0 1 1 0 0 2
Osteogenesis imperfecta type I 0 0 0 0 0 0 2 2
ACTA2-Related Disorders 0 0 0 1 0 0 0 1
Aortic aneurysm 0 1 0 0 1 0 0 1
Dilatation of ascending aorta; Dilatation 0 0 0 0 1 0 0 1
Dilatation of ascending aorta; Scoliosis; Tall stature; Joint hypermobility; Severe Myopia; Aortic aneurysm 0 0 0 1 0 0 0 1
Ehlers-Danlos syndrome 0 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, type 7A 0 1 0 0 0 0 1 1
Familial colorectal cancer 0 0 0 0 0 0 1 1
Familial thoracic aortic aneurysm 0 0 0 0 1 0 0 1
Hereditary nonpolyposis colorectal cancer type 6 0 1 0 0 0 0 1 1
Infantile cortical hyperostosis 0 0 0 0 0 0 1 1
Juvenile polyposis syndrome 0 2 0 0 1 0 0 1
Loeys-Dietz syndrome 2 0 6 0 1 0 0 0 1
Loeys-Dietz syndrome 2; Hereditary nonpolyposis colorectal cancer type 6 0 0 0 0 1 0 0 1
Loeys-Dietz syndrome 3 0 2 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 0 1 1
Marfanoid habitus 0 0 0 0 1 0 0 1
Osteogenesis Imperfecta, Dominant 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 508
Download table as spreadsheet
HGVS dbSNP
MYH11:c.503-14_503-12del rs141564071
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000090.3(COL3A1):c.114C>G (p.Ser38=) rs141241764
NM_000090.3(COL3A1):c.1150-13T>C rs201839712
NM_000090.3(COL3A1):c.1188C>T (p.Gly396=) rs745743884
NM_000090.3(COL3A1):c.1204G>A (p.Gly402Ser) rs1064797017
NM_000090.3(COL3A1):c.1348-4delT rs758567906
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.1617C>T (p.Pro539=) rs141091206
NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.3(COL3A1):c.1762-11T>G rs761637298
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.198A>G (p.Ile66Met) rs372269408
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
NM_000090.3(COL3A1):c.2355C>G (p.Pro785=) rs148901664
NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) rs199727625
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3202-14delT rs767971610
NM_000090.3(COL3A1):c.3228C>T (p.Pro1076=) rs200917999
NM_000090.3(COL3A1):c.3525+19delG rs138061246
NM_000090.3(COL3A1):c.3537C>A (p.Gly1179=) rs146837092
NM_000090.3(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484
NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.583-8C>T rs10166835
NM_000090.3(COL3A1):c.799-6delT rs767927599
NM_000090.3(COL3A1):c.80-13A>C rs566189676
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000093.4(COL5A1):c.4230+5C>T rs142248898
NM_000093.4(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000138.4(FBN1):c.-176A>T rs560004254
NM_000138.4(FBN1):c.-35C>T rs199781948
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) rs146726731
NM_000138.4(FBN1):c.1029G>A (p.Gly343=) rs75655780
NM_000138.4(FBN1):c.1323A>G (p.Pro441=) rs202030761
NM_000138.4(FBN1):c.1345G>A (p.Val449Ile) rs139058991
NM_000138.4(FBN1):c.1371C>G (p.Arg457=) rs25436
NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.1537T>C (p.Cys513Arg) rs1555400279
NM_000138.4(FBN1):c.1602T>C (p.Cys534=) rs377386372
NM_000138.4(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.4(FBN1):c.185G>A (p.Arg62His) rs145942328
NM_000138.4(FBN1):c.2094G>T (p.Pro698=) rs144775475
NM_000138.4(FBN1):c.2175T>C (p.Asn725=) rs140606
NM_000138.4(FBN1):c.2306G>A (p.Cys769Tyr) rs794728190
NM_000138.4(FBN1):c.2420-8T>C rs140582
NM_000138.4(FBN1):c.2547C>G (p.Ile849Met) rs778258207
NM_000138.4(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.4(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.4(FBN1):c.2678-12T>C rs200368037
NM_000138.4(FBN1):c.2748G>A (p.Val916=) rs1339922695
NM_000138.4(FBN1):c.2855-9C>T rs140590
NM_000138.4(FBN1):c.2895G>A (p.Glu965=) rs140591
NM_000138.4(FBN1):c.2927G>A (p.Arg976His) rs140954477
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.4(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.4(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777
NM_000138.4(FBN1):c.3069G>A (p.Lys1023=) rs199789628
NM_000138.4(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.4(FBN1):c.3082+8delG rs193922196
NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640
NM_000138.4(FBN1):c.3193delG (p.Glu1065Lysfs) rs193922198
NM_000138.4(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.4(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.4(FBN1):c.3337+11G>A rs368726848
NM_000138.4(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.4(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.4(FBN1):c.3423G>A (p.Pro1141=) rs140396599
NM_000138.4(FBN1):c.3457T>C (p.Cys1153Arg) rs886038877
NM_000138.4(FBN1):c.3463+3A>G rs80344206
NM_000138.4(FBN1):c.3508C>T (p.Arg1170Cys) rs1366894709
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.3589+36_3589+40delTTTTA rs72158035
NM_000138.4(FBN1):c.3590-8T>C rs140600
NM_000138.4(FBN1):c.3675G>A (p.Pro1225=) rs148147223
NM_000138.4(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812
NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067
NM_000138.4(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408
NM_000138.4(FBN1):c.3965-8T>C rs140637
NM_000138.4(FBN1):c.4095C>T (p.Asp1365=) rs375402043
NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.4(FBN1):c.4306G>A (p.Val1436Met) rs377338217
NM_000138.4(FBN1):c.4539C>G (p.Cys1513Trp) rs1555397203
NM_000138.4(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.4(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990
NM_000138.4(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513
NM_000138.4(FBN1):c.4898G>A (p.Cys1633Tyr) rs1555396993
NM_000138.4(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.4(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.4(FBN1):c.5296+14G>A rs140650
NM_000138.4(FBN1):c.5340A>C (p.Gly1780=) rs766501385
NM_000138.4(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.4(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.4(FBN1):c.538+4A>G rs375721252
NM_000138.4(FBN1):c.539-15delA rs193922211
NM_000138.4(FBN1):c.5442C>T (p.Asn1814=) rs397515822
NM_000138.4(FBN1):c.5495G>A (p.Arg1832His) rs764203302
NM_000138.4(FBN1):c.5672-3T>C rs193922217
NM_000138.4(FBN1):c.5724A>G (p.Thr1908=) rs141219664
NM_000138.4(FBN1):c.5788+10C>A rs371560107
NM_000138.4(FBN1):c.5917+3A>G rs202158568
NM_000138.4(FBN1):c.59A>G (p.Tyr20Cys) rs201309310
NM_000138.4(FBN1):c.6038-15_6038-14delAT rs752198920
NM_000138.4(FBN1):c.6038-8T>A rs569460847
NM_000138.4(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.4(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372
NM_000138.4(FBN1):c.6163+2dupT rs794728315
NM_000138.4(FBN1):c.6164-3C>T rs571365493
NM_000138.4(FBN1):c.6302C>T (p.Thr2101Met) rs200816828
NM_000138.4(FBN1):c.6314-15G>A rs200841830
NM_000138.4(FBN1):c.6393C>T (p.Cys2131=) rs61730051
NM_000138.4(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.4(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.4(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.4(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.4(FBN1):c.6705A>C (p.Gly2235=) rs2229326
NM_000138.4(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.4(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.4(FBN1):c.6837G>A (p.Gly2279=) rs140584234
NM_000138.4(FBN1):c.6917G>A (p.Arg2306His) rs770443276
NM_000138.4(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709
NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu) rs363831
NM_000138.4(FBN1):c.7039_7040delAT (p.Met2347Valfs) rs794728319
NM_000138.4(FBN1):c.7056C>T (p.Ser2352=) rs149697299
NM_000138.4(FBN1):c.7098C>T (p.Asp2366=) rs1005074
NM_000138.4(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400
NM_000138.4(FBN1):c.7497A>G (p.Leu2499=) rs148516442
NM_000138.4(FBN1):c.75G>A (p.Ala25=) rs543230518
NM_000138.4(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.783T>C (p.Asn261=) rs113721547
NM_000138.4(FBN1):c.7902C>T (p.Pro2634=) rs138621371
NM_000138.4(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280
NM_000138.4(FBN1):c.79G>A (p.Ala27Thr) rs25397
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.4(FBN1):c.8202C>T (p.Asn2734=) rs113904256
NM_000138.4(FBN1):c.8283A>T (p.Thr2761=) rs146120912
NM_000138.4(FBN1):c.8311G>A (p.Val2771Ile) rs193922244
NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met) rs143007898
NM_000138.4(FBN1):c.8385C>T (p.Ile2795=) rs138574576
NM_000138.4(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000138.4(FBN1):c.902G>T (p.Gly301Val) rs142888621
NM_000138.4(FBN1):c.911G>A (p.Cys304Tyr) rs1555401011
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000393.3(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200
NM_001024847.2(TGFBR2):c.1732T>A (p.Ser578Thr) rs112215250
NM_001024847.2(TGFBR2):c.539C>T (p.Thr180Ile) rs727504406
NM_001040113.1(MYH11):c.1270-11G>C rs2280764
NM_001040113.1(MYH11):c.1892G>A (p.Arg631His) rs201991156
NM_001040113.1(MYH11):c.1934C>T (p.Ser645Leu) rs771128441
NM_001040113.1(MYH11):c.2026C>T (p.Arg676Cys) rs111404182
NM_001040113.1(MYH11):c.2070C>T (p.His690=) rs150924100
NM_001040113.1(MYH11):c.300C>T (p.Ser100=) rs111662326
NM_001040113.1(MYH11):c.3123T>C (p.Ser1041=) rs181744522
NM_001040113.1(MYH11):c.3249G>A (p.Ala1083=) rs773672888
NM_001040113.1(MYH11):c.3672+5_3672+11delTGCTTTTinsG rs371843272
NM_001040113.1(MYH11):c.3721G>A (p.Ala1241Thr) rs16967494
NM_001040113.1(MYH11):c.3988C>T (p.Leu1330=) rs12907
NM_001040113.1(MYH11):c.429G>A (p.Lys143=) rs200672270
NM_001040113.1(MYH11):c.4422C>T (p.Tyr1474=) rs8046180
NM_001040113.1(MYH11):c.4625G>A (p.Arg1542Gln) rs137934837
NM_001040113.1(MYH11):c.5294G>A (p.Arg1765Gln) rs142546324
NM_001040113.1(MYH11):c.5317-4C>T rs183176702
NM_001040113.1(MYH11):c.5357C>T (p.Thr1786Met) rs201960644
NM_001040113.1(MYH11):c.5717A>G (p.Asn1906Ser) rs79129097
NM_001040113.1(MYH11):c.5753C>T (p.Thr1918Met) rs748516947
NM_001040113.1(MYH11):c.5807+11C>T rs374454501
NM_001040113.1(MYH11):c.5808-9C>T
NM_001040113.1(MYH11):c.5808-9_5808-8delCT rs747642850
NM_001040113.1(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001040113.1(MYH11):c.5819dupC (p.Gln1941Thrfs) rs747392139
NM_001040113.1(MYH11):c.760C>T (p.Arg254Cys) rs150759461
NM_001040114.1(MYH11):c.3787_3789delAAG (p.Lys1263del) rs730880147
NM_001040114.1(MYH11):c.4694C>T (p.Thr1565Met) rs111854563
NM_001135599.3(TGFB2):c.-5A>T rs200702935
NM_001135599.3(TGFB2):c.114G>A (p.Glu38=) rs149215818
NM_001135599.3(TGFB2):c.440C>T (p.Pro147Leu) rs149533093
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001141945.1(ACTA2):c.419C>T (p.Ala140Val) rs397516683
NM_001141945.2(ACTA2):c.-24+157C>T rs2274355
NM_001141945.2(ACTA2):c.-24+96T>C rs5030766
NM_001141945.2(ACTA2):c.115C>T (p.Arg39Cys) rs112901682
NM_001143979.1(NDE1):c.*1220G>A rs74009414
NM_001143979.1(NDE1):c.*1299A>G rs16967500
NM_001143979.1(NDE1):c.*1389G>A rs11557090
NM_001143979.1(NDE1):c.*1723C>T rs73519694
NM_001143979.1(NDE1):c.*202G>A rs11130
NM_001143979.1(NDE1):c.*913A>C rs760024
NM_001143979.1(NDE1):c.*947G>A rs760023
NM_001143979.1(NDE1):c.948-4894G>A rs771742318
NM_001143979.1(NDE1):c.948-5807C>G rs144421849
NM_001143979.1(NDE1):c.948-5828C>T rs757501817
NM_001143979.1(NDE1):c.948-5858G>A rs112564682
NM_001143979.1(NDE1):c.948-6917G>A rs35295469
NM_001143979.1(NDE1):c.948-6986C>T rs1050162
NM_001143979.1(NDE1):c.948-7025C>T rs1050163
NM_001306210.1(TGFBR1):c.70_78delGCGGCGGCG rs11466445
NM_001613.2(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.2(ACTA2):c.201G>C (p.Leu67=) rs199773697
NM_001613.2(ACTA2):c.417G>A (p.Gln139=) rs111265233
NM_001613.2(ACTA2):c.420G>A (p.Ala140=) rs762567614
NM_001613.2(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001613.2(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001613.2(ACTA2):c.78C>T (p.Asp26=) rs141538225
NM_001613.2(ACTA2):c.808+14G>A rs774120023
NM_001613.2(ACTA2):c.936C>T (p.Ala312=) rs200213764
NM_001613.3(ACTA2):c.390T>C (p.Asn130=) rs141933412
NM_001999.3(FBN2):c.287_289delACT (p.Tyr96del) rs555068280
NM_001999.3(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_002317.6(LOX):c.893T>G (p.Met298Arg) rs876657852
NM_002317.7(LOX):c.125G>A (p.Trp42Ter) rs886040966
NM_002474.2(MYH11):c.*5C>G rs1875184
NM_002474.2(MYH11):c.-17-13C>T rs545560860
NM_002474.2(MYH11):c.1017C>T (p.Ser339=) rs112161189
NM_002474.2(MYH11):c.1034-12T>G rs184847335
NM_002474.2(MYH11):c.1212G>C (p.Gly404=) rs201198815
NM_002474.2(MYH11):c.12G>A (p.Lys4=) rs112650390
NM_002474.2(MYH11):c.135C>T (p.Phe45=) rs28570191
NM_002474.2(MYH11):c.1419G>A (p.Gln473=) rs61734198
NM_002474.2(MYH11):c.1512C>T (p.Ile504=) rs149630866
NM_002474.2(MYH11):c.1575+8delG rs769321167
NM_002474.2(MYH11):c.1732A>G (p.Ile578Val) rs111936548
NM_002474.2(MYH11):c.1743T>C (p.Ala581=) rs2272554
NM_002474.2(MYH11):c.1848C>T (p.Ala616=) rs112834652
NM_002474.2(MYH11):c.1879G>A (p.Gly627Ser) rs563865467
NM_002474.2(MYH11):c.2010C>T (p.Asn670=) rs774336703
NM_002474.2(MYH11):c.2058+10G>A rs757874059
NM_002474.2(MYH11):c.2061C>T (p.Ser687=) rs880071
NM_002474.2(MYH11):c.2079C>T (p.Phe693=) rs34287137
NM_002474.2(MYH11):c.217A>C (p.Lys73Gln) rs147447269
NM_002474.2(MYH11):c.2208C>T (p.Ile736=) rs12931799
NM_002474.2(MYH11):c.2412-9C>A rs148682361
NM_002474.2(MYH11):c.2472C>T (p.Ala824=) rs1050113
NM_002474.2(MYH11):c.2648C>T (p.Ser883Leu) rs35035518
NM_002474.2(MYH11):c.2649G>A (p.Ser883=) rs150943863
NM_002474.2(MYH11):c.2802G>A (p.Glu934=) rs138977949
NM_002474.2(MYH11):c.291C>T (p.Asn97=) rs113363750
NM_002474.2(MYH11):c.2961C>T (p.Ile987=) rs137988790
NM_002474.2(MYH11):c.3031T>C (p.Leu1011=) rs112861184
NM_002474.2(MYH11):c.3291C>T (p.Ala1097=) rs147605116
NM_002474.2(MYH11):c.3293+6G>A rs370658839
NM_002474.2(MYH11):c.3310G>A (p.Ala1104Thr) rs34263860
NM_002474.2(MYH11):c.3531G>A (p.Thr1177=) rs149980738
NM_002474.2(MYH11):c.3562C>T (p.Arg1188Trp) rs146388001
NM_002474.2(MYH11):c.3651+6_3651+11delGCTTTT rs371843272
NM_002474.2(MYH11):c.3652-6C>T rs193922630
NM_002474.2(MYH11):c.3816G>A (p.Glu1272=) rs112990531
NM_002474.2(MYH11):c.3828G>A (p.Ala1276=) rs113154524
NM_002474.2(MYH11):c.3866T>C (p.Val1289Ala) rs16967510
NM_002474.2(MYH11):c.3874G>A (p.Val1292Ile) rs151058774
NM_002474.2(MYH11):c.387A>G (p.Lys129=) rs78754138
NM_002474.2(MYH11):c.3910A>C (p.Ile1304Leu) rs200737737
NM_002474.2(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.2(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831
NM_002474.2(MYH11):c.4095C>T (p.His1365=) rs374454281
NM_002474.2(MYH11):c.4116+12G>A rs193005461
NM_002474.2(MYH11):c.417C>T (p.Val139=) rs1050111
NM_002474.2(MYH11):c.4203C>T (p.Ile1401=) rs760611400
NM_002474.2(MYH11):c.4239C>T (p.Ala1413=) rs138573101
NM_002474.2(MYH11):c.4242T>G (p.Ala1414=) rs2075511
NM_002474.2(MYH11):c.4506C>T (p.Leu1502=) rs76890940
NM_002474.2(MYH11):c.4522A>G (p.Met1508Val) rs35176378
NM_002474.2(MYH11):c.453G>A (p.Pro151=) rs61734199
NM_002474.2(MYH11):c.4578+3A>G rs143288748
NM_002474.2(MYH11):c.4579-13G>A rs181115969
NM_002474.2(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103
NM_002474.2(MYH11):c.471C>T (p.Ile157=) rs140267000
NM_002474.2(MYH11):c.4770G>A (p.Lys1590=) rs11648119
NM_002474.2(MYH11):c.4774A>C (p.Arg1592=) rs114556043
NM_002474.2(MYH11):c.4791+4C>T rs142108062
NM_002474.2(MYH11):c.4809G>A (p.Thr1603=) rs140577744
NM_002474.2(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002474.2(MYH11):c.503-9T>C rs554607161
NM_002474.2(MYH11):c.5160C>T (p.Ser1720=) rs199564260
NM_002474.2(MYH11):c.5172-13G>A rs373378619
NM_002474.2(MYH11):c.5172-14C>T rs34839877
NM_002474.2(MYH11):c.5172-5C>T rs574893374
NM_002474.2(MYH11):c.5275G>A (p.Val1759Ile) rs138059405
NM_002474.2(MYH11):c.540T>C (p.Ser180=) rs182700462
NM_002474.2(MYH11):c.5450C>T (p.Ala1817Val) rs142654744
NM_002474.2(MYH11):c.546C>T (p.Ala182=) rs113577450
NM_002474.2(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402
NM_002474.2(MYH11):c.5504+8G>C rs148691719
NM_002474.2(MYH11):c.5516C>T (p.Ala1839Val) rs112948385
NM_002474.2(MYH11):c.5517G>A (p.Ala1839=) rs28505375
NM_002474.2(MYH11):c.5529G>A (p.Ser1843=) rs146024732
NM_002474.2(MYH11):c.5566C>T (p.Leu1856=) rs142639688
NM_002474.2(MYH11):c.5585G>A (p.Arg1862His) rs146228576
NM_002474.2(MYH11):c.5586C>G (p.Arg1862=) rs542765381
NM_002474.2(MYH11):c.5595C>T (p.Ala1865=) rs760286479
NM_002474.2(MYH11):c.5635G>A (p.Val1879Ile) rs138206921
NM_002474.2(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173
NM_002474.2(MYH11):c.5691C>T (p.Asn1897=) rs149566621
NM_002474.2(MYH11):c.5757C>T (p.Arg1919=) rs138168272
NM_002474.2(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_002474.2(MYH11):c.57C>T (p.Asn19=) rs148464745
NM_002474.2(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224
NM_002474.2(MYH11):c.5886C>T (p.Asp1962=) rs140789717
NM_002474.2(MYH11):c.792T>C (p.Tyr264=) rs34341838
NM_002474.2(MYH11):c.914A>G (p.Asn305Ser) rs185661462
NM_002474.2(MYH11):c.987C>T (p.Thr329=) rs4781689
NM_003239.4(TGFB3):c.*9G>A rs4252346
NM_003239.4(TGFB3):c.164G>A (p.Ser55Asn) rs143229915
NM_003239.4(TGFB3):c.39C>T (p.Ala13=) rs11466415
NM_003239.4(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003242.5(TGFBR2):c.1014G>A (p.Thr338=) rs764720370
NM_003242.5(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003242.5(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.5(TGFBR2):c.1125C>T (p.Ile375=) rs751663055
NM_003242.5(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.5(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.5(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.5(TGFBR2):c.1458C>T (p.Ser486=) rs139881155
NM_003242.5(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.5(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.5(TGFBR2):c.1525-6C>G rs748388518
NM_003242.5(TGFBR2):c.1525-7G>A rs377499122
NM_003242.5(TGFBR2):c.1525-8C>T rs11466530
NM_003242.5(TGFBR2):c.1548G>A (p.Thr516=) rs140662877
NM_003242.5(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_003242.5(TGFBR2):c.1576G>C (p.Glu526Gln) rs121918714
NM_003242.5(TGFBR2):c.1602G>A (p.Val534=) rs140818646
NM_003242.5(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003242.5(TGFBR2):c.367A>T (p.Met123Leu) rs768385200
NM_003242.5(TGFBR2):c.383delA (p.Lys128Serfs) rs79375991
NM_003242.5(TGFBR2):c.571G>A (p.Val191Ile) rs56105708
NM_003242.5(TGFBR2):c.617C>T (p.Thr206Met) rs150022335
NM_003242.5(TGFBR2):c.690G>A (p.Thr230=) rs201560560
NM_003242.5(TGFBR2):c.696C>T (p.Ala232=) rs768508812
NM_003242.5(TGFBR2):c.75A>G (p.Pro25=) rs572435149
NM_003242.5(TGFBR2):c.915C>T (p.Leu305=) rs146030104
NM_003242.5(TGFBR2):c.94+16238C>T rs149757320
NM_003242.5(TGFBR2):c.94+16245G>A rs61732532
NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003242.5(TGFBR2):c.984C>T (p.His328=) rs193922666
NM_004612.2(TGFBR1):c.1141C>T (p.Pro381Ser) rs760555508
NM_004612.2(TGFBR1):c.134A>G (p.Asn45Ser) rs387906696
NM_004612.2(TGFBR1):c.415A>G (p.Ile139Val) rs148176750
NM_004612.2(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004612.2(TGFBR1):c.679G>A (p.Glu227Lys) rs1060502042
NM_004612.2(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.3(TGFBR1):c.1032T>C (p.Asn344=) rs192662552
NM_004612.3(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.3(TGFBR1):c.1216T>C (p.Leu406=) rs200062984
NM_004612.3(TGFBR1):c.1240C>T (p.Arg414Ter) rs387906697
NM_004612.3(TGFBR1):c.192A>G (p.Lys64=) rs112051451
NM_004612.3(TGFBR1):c.343+3A>G rs374717754
NM_004612.3(TGFBR1):c.49C>T (p.Leu17=) rs878854714
NM_004612.3(TGFBR1):c.575-9dupT rs863223798
NM_004612.3(TGFBR1):c.70_78dupGCGGCGGCG (p.Ala26_Leu27insAlaAlaAla) rs11466445
NM_004612.3(TGFBR1):c.76_78delGCG (p.Ala26del) rs11466445
NM_004612.3(TGFBR1):c.76_78dup (p.Ala26_Leu27insAla) rs11466445
NM_004612.3(TGFBR1):c.935G>A (p.Gly312Asp) rs869025535
NM_004612.4(TGFBR1):c.154G>C (p.Gly52Arg) rs587776865
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) rs145033378
NM_004612.4(TGFBR1):c.897G>A (p.Val299=) rs369881419
NM_005359.5(SMAD4):c.*11C>T rs11663402
NM_005359.5(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.5(SMAD4):c.424+5G>A rs200772603
NM_005902.3(SMAD3):c.1092C>T (p.Tyr364=) rs753875974
NM_005902.3(SMAD3):c.207-10G>A rs201912204
NM_005902.3(SMAD3):c.277C>T (p.Arg93Ter) rs768713596
NM_005902.3(SMAD3):c.316A>G (p.Met106Val) rs138550573
NM_005902.3(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.3(SMAD3):c.401-6G>A rs745672741
NM_005902.3(SMAD3):c.457C>T (p.Leu153=) rs145380987
NM_005902.3(SMAD3):c.483C>T (p.Pro161=) rs202203039
NM_005902.3(SMAD3):c.508A>G (p.Ile170Val) rs35874463
NM_005902.3(SMAD3):c.607+9T>A rs886051380
NM_005902.3(SMAD3):c.636G>A (p.Met212Ile) rs202094530
NM_005902.3(SMAD3):c.66G>A (p.Glu22=) rs187952791
NM_005902.3(SMAD3):c.772G>C (p.Asp258His) rs863223738
NM_005902.3(SMAD3):c.859C>T (p.Arg287Trp) rs387906850
NM_005902.3(SMAD3):c.870C>T (p.Ile290=) rs117185005
NM_005902.3(SMAD3):c.872-4G>A rs776577220
NM_005902.3(SMAD3):c.885G>A (p.Arg295=) rs139616052
NM_005902.3(SMAD3):c.984G>A (p.Pro328=) rs150994304
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) rs886039177
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_005911.5(MAT2A):c.108A>G (p.Gln36=) rs115257622
NM_005911.5(MAT2A):c.318G>T (p.Val106=) rs72940560
NM_005911.5(MAT2A):c.438T>C (p.Thr146=) rs143610695
NM_005911.5(MAT2A):c.501A>G (p.Leu167=) rs75623534
NM_017617.5(NOTCH1):c.1100-7T>C rs376603720
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_017617.5(NOTCH1):c.17_18delCGinsTT (p.Ala6Val) rs878855023
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) rs201662530
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545
NM_017617.5(NOTCH1):c.339C>T (p.Asn113=) rs369947231
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536
NM_017617.5(NOTCH1):c.5934+8G>A rs747822127
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256
NM_022844.2(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_022844.2(MYH11):c.5787-11_5787-8delCTCT rs747642850
NM_030777.3(SLC2A10):c.1552A>G (p.Thr518Ala) rs6018008
NM_030777.3(SLC2A10):c.1609A>G (p.Ile537Val) rs7348121
NM_030777.3(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438
NM_030777.3(SLC2A10):c.366C>T (p.Tyr122=) rs34990188
NM_030777.3(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173
NM_030777.3(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610
NM_030777.3(SLC2A10):c.765C>T (p.Ser255=) rs142106322
NM_053025.3(MYLK):c.*1174_*1177dupCTTA rs146691098
NM_053025.3(MYLK):c.*1809A>G rs6438804
NM_053025.3(MYLK):c.-197T>C rs528654061
NM_053025.3(MYLK):c.-24C>T rs553555866
NM_053025.3(MYLK):c.1005C>T (p.Thr335=) rs4678047
NM_053025.3(MYLK):c.1007C>T (p.Pro336Leu) rs35912339
NM_053025.3(MYLK):c.1327C>T (p.Pro443Ser) rs35156360
NM_053025.3(MYLK):c.1474G>A (p.Ala492Thr) rs143010767
NM_053025.3(MYLK):c.1486C>G (p.Leu496Val) rs9833275
NM_053025.3(MYLK):c.1516A>G (p.Arg506Gly) rs77323602
NM_053025.3(MYLK):c.1651+6T>A rs820329
NM_053025.3(MYLK):c.1804+8C>T rs820355
NM_053025.3(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.3(MYLK):c.1991A>G (p.Gln664Arg) rs200273207
NM_053025.3(MYLK):c.2023G>A (p.Gly675Arg) rs147008323
NM_053025.3(MYLK):c.207C>T (p.Asn69=) rs376457425
NM_053025.3(MYLK):c.2124C>T (p.Ala708=) rs372939794
NM_053025.3(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_053025.3(MYLK):c.2253C>T (p.Thr751=) rs138777049
NM_053025.3(MYLK):c.24C>G (p.Ala8=) rs78118111
NM_053025.3(MYLK):c.2533C>T (p.Arg845Cys) rs3732485
NM_053025.3(MYLK):c.256C>T (p.Arg86Trp) rs368822172
NM_053025.3(MYLK):c.2582T>C (p.Leu861Pro) rs3732486
NM_053025.3(MYLK):c.2589G>A (p.Glu863=) rs536506601
NM_053025.3(MYLK):c.2742C>A (p.Asp914Glu) rs3732487
NM_053025.3(MYLK):c.2799G>A (p.Val933=) rs144806671
NM_053025.3(MYLK):c.2919G>A (p.Pro973=) rs149482336
NM_053025.3(MYLK):c.3027G>A (p.Glu1009=) rs12172926
NM_053025.3(MYLK):c.3196_3198delGAA (p.Glu1066del) rs75967604
NM_053025.3(MYLK):c.3253A>G (p.Thr1085Ala) rs75370906
NM_053025.3(MYLK):c.3402C>T (p.Asn1134=) rs865358
NM_053025.3(MYLK):c.3448+15G>A rs199789942
NM_053025.3(MYLK):c.3525C>T (p.Asp1175=) rs147735490
NM_053025.3(MYLK):c.3558C>T (p.Thr1186=) rs40305
NM_053025.3(MYLK):c.3652+11G>A rs41271437
NM_053025.3(MYLK):c.3706A>G (p.Met1236Val) rs113124819
NM_053025.3(MYLK):c.3832-6C>T rs185681684
NM_053025.3(MYLK):c.383C>T (p.Ala128Val) rs143896146
NM_053025.3(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842
NM_053025.3(MYLK):c.3915C>T (p.Cys1305=) rs371602931
NM_053025.3(MYLK):c.3987T>G (p.Asp1329Glu) rs9844788
NM_053025.3(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_053025.3(MYLK):c.411C>G (p.Ser137=) rs55760507
NM_053025.3(MYLK):c.4194C>T (p.His1398=) rs17298941
NM_053025.3(MYLK):c.423-8C>T rs751696363
NM_053025.3(MYLK):c.4289-13delG rs779252356
NM_053025.3(MYLK):c.4289-3dupC rs41431347
NM_053025.3(MYLK):c.4302A>G (p.Glu1434=) rs145872838
NM_053025.3(MYLK):c.4317T>C (p.Asp1439=) rs1254392
NM_053025.3(MYLK):c.4349G>A (p.Arg1450Gln) rs41366751
NM_053025.3(MYLK):c.439C>T (p.Pro147Ser) rs9840993
NM_053025.3(MYLK):c.4415+9A>G rs187964526
NM_053025.3(MYLK):c.4620-12G>A rs41301337
NM_053025.3(MYLK):c.4620-4G>A rs371533014
NM_053025.3(MYLK):c.4620-6C>T rs113607507
NM_053025.3(MYLK):c.4725C>T (p.Tyr1575=) rs374665486
NM_053025.3(MYLK):c.4764G>A (p.Pro1588=) rs56056823
NM_053025.3(MYLK):c.479C>G (p.Pro160Arg) rs111256888
NM_053025.3(MYLK):c.4842T>C (p.Asn1614=) rs820463
NM_053025.3(MYLK):c.5001C>T (p.Asn1667=) rs375038682
NM_053025.3(MYLK):c.5114+7A>G rs1553774672
NM_053025.3(MYLK):c.5275T>C (p.Ser1759Pro) rs387906781
NM_053025.3(MYLK):c.5441C>T (p.Thr1814Ile) rs142220417
NM_053025.3(MYLK):c.5448C>T (p.Arg1816=) rs56262958
NM_053025.3(MYLK):c.5703G>A (p.Thr1901=) rs540804249
NM_053025.3(MYLK):c.588+13_588+16delTCTG rs570821069
NM_053025.3(MYLK):c.601C>T (p.Leu201=) rs773082759
NM_053025.3(MYLK):c.619G>A (p.Val207Met) rs756560698
NM_053025.3(MYLK):c.62C>A (p.Pro21His) rs28497577
NM_053025.3(MYLK):c.782T>C (p.Val261Ala) rs3796164
NM_053025.3(MYLK):c.999G>A (p.Pro333=) rs13319347

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