NM_000961.4(PTGIS):c.824G>A (p.Arg275Gln)
|
rs61734270
|
0.00098
|
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val)
|
rs200100285
|
0.00028
|
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile)
|
rs373076763
|
0.00021
|
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)
|
rs767890671
|
0.00011
|
NM_005957.5(MTHFR):c.1130G>A (p.Arg377His)
|
rs750323424
|
0.00004
|
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=)
|
rs367585605
|
0.00004
|
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)
|
rs140277700
|
0.00003
|
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)
|
rs121434295
|
0.00002
|
NM_003774.5(GALNT4):c.1194C>T (p.Asn398=)
|
rs863223348
|
0.00001
|
NM_005529.7(HSPG2):c.4233C>T (p.Tyr1411=)
|
rs745452577
|
0.00001
|
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro)
|
rs545086633
|
0.00001
|
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)
|
rs1057519360
|
0.00001
|
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro)
|
rs121434297
|
0.00001
|
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys)
|
rs371085894
|
0.00001
|
NM_015009.3(PDZRN3):c.820G>A (p.Asp274Asn)
|
rs748809996
|
0.00001
|
NM_152701.5(ABCA13):c.11473+2T>C
|
rs797045205
|
0.00001
|
NC_000001.11:g.(?_109048899)_(109079629_?)del
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NC_000001.11:g.(?_145601945)_(146048346_?)del
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NC_000002.12:g.(?_106445028)_(107839483_?)del
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NC_000002.12:g.(?_11177745)_(16113827_?)del
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NC_000002.12:g.(?_115503140)_(115527426_?)del
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NC_000002.12:g.(?_130725519)_(131168548_?)del
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NC_000002.12:g.(?_177895779)_(177946731_?)del
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NC_000002.12:g.(?_184830819)_(184884225_?)del
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NC_000002.12:g.(?_196588283)_(196600831_?)del
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NC_000002.12:g.(?_205102232)_(205198713_?)del
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NC_000002.12:g.(?_205264941)_(205497509_?)del
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NC_000002.12:g.(?_32528746)_(32559427_?)del
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NC_000002.12:g.(?_96063558)_(97079140_?)del
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NC_000003.12:g.(?_1264992)_(1295956_?)del
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NC_000003.12:g.(?_187222939)_(194312782_?)del
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NC_000003.12:g.(?_188343948)_(188435451_?)del
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NC_000003.12:g.(?_188420063)_(188540464_?)del
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NC_000003.12:g.(?_41609544)_(41811095_?)del
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NC_000003.12:g.(?_41760954)_(41858293_?)del
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NC_000003.12:g.(?_41803875)_(41849829_?)del
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NC_000003.12:g.(?_60389119)_(60571624_?)del
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NC_000003.12:g.(?_60408194)_(60672864_?)del
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NC_000003.12:g.(?_60438915)_(60817364_?)del
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NC_000004.12:g.(?_92590068)_(92732357_?)del
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NC_000004.12:g.(?_92930845)_(93092974_?)del
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NC_000005.10:g.(?_11567352)_(11629138_?)del
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NC_000005.10:g.(?_131428263)_(132208822_?)del
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NC_000006.12:g.(?_161816395)_(162018868_?)del
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NC_000006.12:g.(?_161933685)_(162059574_?)del
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NC_000006.12:g.(?_161966350)_(162292493_?)del
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NC_000006.12:g.(?_161982200)_(162323320_?)del
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NC_000006.12:g.(?_162088360)_(162527858_?)del
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NC_000006.12:g.(?_162144053)_(162229459_?)del
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NC_000006.12:g.(?_162145541)_(162226576_?)del
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NC_000006.12:g.(?_162151583)_(162270607_?)del
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NC_000006.12:g.(?_162166123)_(162288233_?)del
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NC_000006.12:g.(?_162194743)_(162324250_?)del
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NC_000006.12:g.(?_162200873)_(162544554_?)del
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NC_000006.12:g.(?_162222675)_(162297617_?)del
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NC_000006.12:g.(?_162229459)_(162495982_?)del
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NC_000006.12:g.(?_162265361)_(162429333_?)del
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NC_000006.12:g.(?_162267721)_(162302278_?)del
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NC_000006.12:g.(?_162290852)_(162564693_?)del
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NC_000006.12:g.(?_162308970)_(162630627_?)del
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NC_000006.12:g.(?_162332720)_(162499424_?)del
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NC_000006.12:g.(?_162349019)_(162495982_?)del
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NC_000006.12:g.(?_162411708)_(162476625_?)del
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NC_000006.12:g.(?_162609404)_(162813090_?)del
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NC_000006.12:g.(?_57046622)_(57088889_?)del
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NC_000006.12:g.(?_57046622)_(57092420_?)del
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NC_000007.14:g.(?_103491380)_(103507508_?)del
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NC_000007.14:g.(?_153822158)_(153968005_?)del
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NC_000007.14:g.(?_81478831)_(84097791_?)del
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NC_000008.11:g.(?_10252025)_(10336231_?)del
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NC_000008.11:g.(?_1050516)_(1327901_?)del
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NC_000008.11:g.(?_140417391)_(140444832_?)del
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NC_000008.11:g.(?_2724493)_(4921893_?)del
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NC_000008.11:g.(?_3873130)_(3959547_?)del
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NC_000008.11:g.(?_3876145)_(3961401_?)del
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NC_000008.11:g.(?_3876145)_(3967152_?)del
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NC_000008.11:g.(?_3877806)_(3959547_?)del
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NC_000008.11:g.(?_99047163)_(99227439_?)del
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NC_000008.11:g.(?_99118484)_(99159135_?)del
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NC_000009.12:g.(?_10000)_(400952_?)del
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NC_000009.12:g.(?_116634744)_(116742416_?)del
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NC_000009.12:g.(?_116683530)_(116733612_?)del
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NC_000009.12:g.(?_116683530)_(116876208_?)del
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NC_000010.11:g.(?_54690788)_(54898513_?)del
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NC_000011.10:g.(?_31405793)_(31548667_?)del
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NC_000011.10:g.(?_84114371)_(84650078_?)del
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NC_000011.10:g.(?_84405313)_(84547789_?)del
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NC_000011.10:g.(?_84809995)_(84986152_?)del
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NC_000011.10:g.(?_84877230)_(84963429_?)del
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NC_000012.12:g.(?_2687956)_(2741851_?)del
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NC_000013.11:g.(?_22968338)_(24323208_?)del
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NC_000013.11:g.(?_87545067)_(87934031_?)del
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NC_000014.9:g.(?_33318664)_(33378429_?)del
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NC_000015.10:g.(?_28821222)_(30470957_?)del
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NC_000016.10:g.(?_21928119)_(22428075_?)del
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NC_000016.10:g.(?_6355716)_(6937802_?)del
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NC_000016.10:g.(?_6360351)_(6582207_?)del
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NC_000016.10:g.(?_6622570)_(6720408_?)del
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NC_000016.10:g.(?_6631947)_(7029167_?)del
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NC_000016.10:g.(?_6773909)_(6978067_?)del
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NC_000016.10:g.(?_7029167)_(7099643_?)del
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NC_000016.10:g.(?_79103200)_(79402155_?)del
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NC_000016.10:g.(?_84593050)_(85516675_?)del
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NC_000017.11:g.(?_14178908)_(15518547_?)del
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NC_000018.10:g.(?_47026162)_(47075742_?)del
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NC_000018.10:g.(?_7773472)_(8250054_?)del
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NC_000020.11:g.(?_14631584)_(14707775_?)del
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NC_000020.11:g.(?_14656734)_(14876708_?)del
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NC_000020.11:g.(?_42232174)_(42274201_?)del
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NC_000020.11:g.(?_42472130)_(42562200_?)del
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NC_000022.11:g.(?_20346735)_(21149007_?)del
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NC_000022.11:g.(?_20346735)_(21277123_?)del
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NC_000022.11:g.(?_20358985)_(21123588_?)del
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NC_000022.11:g.(?_21956007)_(22224188_?)del
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NC_000022.11:g.(?_22638171)_(23320336_?)del
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NC_000023.11:g.(?_155530103)_(155550495_?)del
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NC_000023.11:g.(?_155531678)_(155556173_?)del
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NC_000023.11:g.(?_31774439)_(31859356_?)del
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NC_000023.11:g.(?_32070396)_(32212245_?)del
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NC_000023.11:g.(?_621471)_(636910_?)del
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NC_000023.11:g.(?_6526750)_(8172018_?)del
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NC_000023.11:g.(?_6536927)_(8156323_?)del
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NC_000023.11:g.(?_6776477)_(7923774_?)del
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NM_000210.4(ITGA6):c.*91AGA[1]
|
rs863223349
|
|
NM_001035.3(RYR2):c.2236C>T (p.Gln746Ter)
|
rs863223354
|
|
NM_001035.3(RYR2):c.2238A>C (p.Gln746His)
|
rs863223355
|
|
NM_001040025.3(ARL16):c.-41G>T
|
rs863223352
|
|
NM_001372044.2(SHANK3):c.1529+3_1529+4insGAGG
|
|
|
NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs)
|
rs2083280147
|
|
NM_001372044.2(SHANK3):c.3865dup (p.Ala1289fs)
|
rs2146831793
|
|
NM_001372044.2(SHANK3):c.3904del
|
rs762292772
|
|
NM_002402.4(MEST):c.559C>T (p.Pro187Ser)
|
rs863223353
|
|
NM_005685.4(GTF2IRD1):c.973C>T (p.Arg325Cys)
|
rs863223350
|
|
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del)
|
rs1297161027
|
|
NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)
|
|
|
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs)
|
rs764338697
|
|
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)
|
|
|
NM_005957.5(MTHFR):c.236+1G>A
|
rs1057519359
|
|
NM_005957.5(MTHFR):c.727T>G (p.Cys243Gly)
|
|
|
NM_021975.4(RELA):c.329T>C (p.Ile110Thr)
|
rs863223356
|
|
NM_024757.5(EHMT1):c.1647+2T>C
|
rs1057518913
|
|
NM_032538.3(TTBK1):c.773G>A (p.Arg258Gln)
|
rs759748655
|
|
NM_138706.5(B3GNT6):c.552C>G (p.Asp184Glu)
|
rs781821239
|
|
NM_144687.4(NLRP12):c.858C>G (p.Pro286=)
|
rs145171629
|
|
NM_178860.5(SEZ6):c.678_686del (p.Thr227_Thr229del)
|
rs863223347
|
|
NM_198993.5(STAC2):c.257G>A (p.Arg86Lys)
|
rs863223351
|
|
NM_207361.6(FREM2):c.8351G>A (p.Arg2784Lys)
|
rs863223346
|
|
NM_207370.4(GPR153):c.217C>T (p.Arg73Cys)
|
rs776061422
|
|
Single allele
|
|
|