ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "likely benign" from any submitter

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5121
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HGVS dbSNP
NM_000016.5(ACADM):c.994C>T (p.Leu332=) rs138098371
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.4(ACADVL):c.678C>A (p.Ala226=) rs372114185
NM_000023.4(SGCA):c.189C>T (p.His63=) rs373770886
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328
NM_000023.4(SGCA):c.408C>T (p.Ala136=) rs143551687
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile) rs199804735
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924
NM_000023.4(SGCA):c.690G>C (p.Leu230=) rs139454982
NM_000023.4(SGCA):c.861G>A (p.Leu287=) rs1555569293
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr) rs200814886
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316
NM_000026.4(ADSL):c.579G>C (p.Leu193=) rs751928831
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604
NM_000035.4(ALDOB):c.1000-3T>C rs369238799
NM_000035.4(ALDOB):c.525C>T (p.Ala175=) rs144196914
NM_000035.4(ALDOB):c.582T>C (p.Asp194=) rs141988626
NM_000035.4(ALDOB):c.681C>T (p.Thr227=) rs61757689
NM_000038.6(APC):c.1005A>G (p.Leu335=) rs3797704
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759
NM_000038.6(APC):c.2250A>T (p.Pro750=) rs376526724
NM_000038.6(APC):c.4212C>T (p.Ser1404=) rs144655979
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000051.3(ATM):c.1073A>G (p.Asn358Ser) rs149636614
NM_000051.3(ATM):c.2922-8T>A rs545892367
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.4665C>T (p.Leu1555=) rs374431061
NM_000051.3(ATM):c.5352C>T (p.Asn1784=) rs140641762
NM_000051.3(ATM):c.610G>A (p.Gly204Arg) rs147915571
NM_000051.3(ATM):c.6234C>T (p.Ser2078=) rs569483748
NM_000051.3(ATM):c.6465G>A (p.Val2155=) rs140423883
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.7592T>C (p.Met2531Thr) rs587781365
NM_000051.3(ATM):c.8518T>C (p.Leu2840=) rs794727769
NM_000051.3(ATM):c.8987+3G>A rs56360226
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000059.3(BRCA2):c.10102T>C (p.Ser3368Pro) rs786205482
NM_000059.3(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327
NM_000059.3(BRCA2):c.1167G>A (p.Pro389=) rs148607710
NM_000059.3(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717
NM_000059.3(BRCA2):c.3173A>G (p.Lys1058Arg) rs431825302
NM_000059.3(BRCA2):c.3880T>C (p.Leu1294=) rs786201236
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.502C>A (p.Pro168Thr) rs80358726
NM_000059.3(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853
NM_000059.3(BRCA2):c.6288T>G (p.Pro2096=) rs372527810
NM_000059.3(BRCA2):c.67+16A>T rs529148674
NM_000059.3(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906
NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912
NM_000059.3(BRCA2):c.7007+53G>A rs56014558
NM_000059.3(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000059.3(BRCA2):c.9270C>T (p.Phe3090=) rs587780873
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His) rs80358398
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.322A>C (p.Asn108His) rs80358567
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000067.3(CA2):c.35-7C>A rs371766356
NM_000070.3(CAPN3):c.1263G>A (p.Leu421=) rs372450879
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=) rs199884116
NM_000070.3(CAPN3):c.1783-5T>C rs780680647
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=) rs202019404
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442
NM_000070.3(CAPN3):c.552G>A (p.Thr184=) rs147808529
NM_000078.3(CETP):c.940G>A (p.Glu314Lys) rs140547417
NM_000080.4(CHRNE):c.465C>T (p.Phe155=) rs139625105
NM_000082.3(ERCC8):c.510T>C (p.Leu170=) rs886042104
NM_000082.3(ERCC8):c.637T>C (p.Leu213=) rs752757232
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331
NM_000086.2(CLN3):c.537C>G (p.Ala179=) rs147667964
NM_000086.2(CLN3):c.831G>A (p.Val277=) rs1142183
NM_000087.4(CNGA1):c.372C>T (p.Asn124=) rs147591591
NM_000088.3(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.3(COL1A1):c.299-9G>T rs373041336
NM_000088.3(COL1A1):c.3258C>T (p.Pro1086=) rs200319927
NM_000088.3(COL1A1):c.627C>T (p.Gly209=) rs201136122
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.2944-4A>T rs143220941
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3613C>T (p.Arg1205Trp) rs150124840
NM_000089.3(COL1A2):c.3853A>C (p.Asn1285His) rs144797861
NM_000090.3(COL3A1):c.2550T>C (p.Pro850=) rs794727586
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) rs779774302
NM_000090.3(COL3A1):c.792A>G (p.Gly264=) rs113304344
NM_000091.4(COL4A3):c.2699T>C (p.Ile900Thr) rs201665434
NM_000091.4(COL4A3):c.2848G>A (p.Val950Ile) rs200044988
NM_000091.4(COL4A3):c.4295G>A (p.Arg1432His) rs200509072
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408
NM_000091.5(COL4A3):c.1886C>T rs139361545
NM_000092.4(COL4A4):c.1460-6G>A rs771213140
NM_000092.4(COL4A4):c.195T>C (p.Gly65=) rs201278620
NM_000092.4(COL4A4):c.2589C>T (p.Pro863=) rs772517977
NM_000092.4(COL4A4):c.264A>G (p.Ser88=) rs746574978
NM_000092.4(COL4A4):c.4185G>A (p.Gly1395=) rs55978207
NM_000092.4(COL4A4):c.4578C>T (p.Asn1526=) rs202109186
NM_000092.4(COL4A4):c.90C>T (p.Leu30=) rs747805491
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup) rs773994971
NM_000095.3(COMP):c.1110G>A (p.Ala370=) rs780972997
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168
NM_000101.4(CYBA):c.524CGG[3] (p.Ala176dup) rs760275837
NM_000104.3(CYP1B1):c.1590T>C (p.Asp530=) rs146770394
NM_000109.4(DMD):c.7+127911dup rs398123823
NM_000113.3(TOR1A):c.990C>T (p.Tyr330=) rs148849547
NM_000117.2(EMD):c.12C>T (p.Tyr4=) rs782011714
NM_000117.2(EMD):c.171C>T (p.Ser57=) rs900267221
NM_000117.2(EMD):c.428C>T (p.Ser143Phe) rs139983160
NM_000117.2(EMD):c.454C>T (p.Arg152Cys) rs376456050
NM_000117.2(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000117.2(EMD):c.525C>T (p.Ser175=) rs782367505
NM_000117.2(EMD):c.537G>A (p.Leu179=) rs368661339
NM_000117.2(EMD):c.662G>T (p.Arg221Leu) rs782057378
NM_000117.3(EMD):c.400-9C>T rs782061626
NM_000117.3(EMD):c.646G>A (p.Gly216Arg) rs147920229
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala) rs4253046
NM_000124.4(ERCC6):c.1452C>T (p.Asp484=) rs762734699
NM_000124.4(ERCC6):c.1888T>C (p.Leu630=) rs747204355
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015
NM_000124.4(ERCC6):c.2287-4G>A rs375617750
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166
NM_000124.4(ERCC6):c.3719G>T (p.Ser1240Ile) rs142219494
NM_000124.4(ERCC6):c.4143C>T (p.Ser1381=) rs375921453
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953
NM_000124.4(ERCC6):c.813C>T (p.Phe271=) rs764319566
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311
NM_000126.4(ETFA):c.6C>T (p.Phe2=) rs749929239
NM_000127.2(EXT1):c.2148G>A (p.Pro716=) rs757499157
NM_000137.3(FAH):c.243G>A (p.Ala81=) rs36122289
NM_000137.3(FAH):c.553+10C>T rs201051426
NM_000137.3(FAH):c.870C>T (p.Asp290=) rs377480457
NM_000138.4(FBN1):c.2148A>G (p.Gly716=) rs141039922
NM_000138.4(FBN1):c.3464-6C>T rs375596551
NM_000138.4(FBN1):c.4443C>T (p.Ser1481=) rs145040593
NM_000138.4(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.5358T>C (p.Val1786=) rs1057521207
NM_000138.4(FBN1):c.5423-4G>A rs377036485
NM_000138.4(FBN1):c.5964C>T (p.Thr1988=) rs113022801
NM_000138.4(FBN1):c.6189G>A (p.Ala2063=) rs375624881
NM_000138.4(FBN1):c.6852T>C (p.Pro2284=) rs201226058
NM_000138.4(FBN1):c.7902C>T (p.Pro2634=) rs138621371
NM_000138.4(FBN1):c.7964C>T (p.Ala2655Val) rs202240409
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000141.5(FGFR2):c.2106G>A (p.Ser702=) rs794727163
NM_000141.5(FGFR2):c.759T>G (p.Pro253=) rs3135755
NM_000142.5(FGFR3):c.150C>T (p.Val50=) rs750641928
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231
NM_000142.5(FGFR3):c.666C>T (p.Asp222=) rs201081464
NM_000151.4(G6PC1):c.340+10C>A rs368450665
NM_000151.4(G6PC1):c.562+10G>A rs199505156
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000152.5(GAA):c.1075+9T>C rs751918816
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1438-7_1438-5del rs764583466
NM_000152.5(GAA):c.1438-9G>A rs202211401
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956
NM_000152.5(GAA):c.18G>C (p.Pro6=) rs774703637
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg) rs759292700
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530
NM_000152.5(GAA):c.2190-4G>A rs759974338
NM_000152.5(GAA):c.2332-12A>T rs200965268
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074
NM_000152.5(GAA):c.2481+16G>A rs41292408
NM_000152.5(GAA):c.2647-6G>A rs201525743
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.5(GAA):c.2800-15CT[3] rs770227589
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924
NM_000152.5(GAA):c.692+9T>C rs367661167
NM_000152.5(GAA):c.693-4G>T rs200088236
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.5(GAA):c.834G>A (p.Leu278=) rs776314424
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000155.4(GALT):c.564+7G>A rs760189807
NM_000156.6(GAMT):c.189G>C (p.Arg63=) rs568392459
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) rs141471799
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521
NM_000159.4(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000159.4(GCDH):c.471C>T (p.Ser157=) rs146682905
NM_000163.5(GHR):c.195A>G (p.Ser65=) rs140501920
NM_000163.5(GHR):c.686G>A (p.Arg229His) rs6177
NM_000168.6(GLI3):c.1182A>G (p.Pro394=) rs748606221
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu) rs146582871
NM_000168.6(GLI3):c.4560G>A (p.Ser1520=) rs79625212
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872
NM_000179.2(MSH6):c.2418C>T (p.Ser806=) rs770992427
NM_000179.2(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230
NM_000179.2(MSH6):c.660A>C (p.Glu220Asp) rs1800938
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147
NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) rs573367793
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743
NM_000186.3(CFH):c.3133+4C>G rs374729595
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000192.3(TBX5):c.55G>T (p.Ala19Ser) rs200461617
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr) rs17109853
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val) rs569192835
NM_000195.5(HPS1):c.700C>T (p.Leu234=) rs150444975
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688
NM_000208.4(INSR):c.1179G>A (p.Gly393=) rs140573575
NM_000208.4(INSR):c.151G>A (p.Glu51Lys) rs140852238
NM_000208.4(INSR):c.1665T>C (p.Ser555=) rs149795690
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032
NM_000208.4(INSR):c.2256C>G (p.Ala752=) rs376497490
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336
NM_000208.4(INSR):c.3165G>A (p.Ala1055=) rs201445608
NM_000208.4(INSR):c.959C>T (p.Thr320Met) rs138528064
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858
NM_000214.3(JAG1):c.1866G>A (p.Thr622=) rs140624746
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) rs151291264
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) rs144190443
NM_000214.3(JAG1):c.2298T>C (p.Phe766=) rs771544217
NM_000214.3(JAG1):c.2304C>T (p.Cys768=) rs755427292
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2917-7G>A rs201573066
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=) rs754593633
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305
NM_000218.3(KCNQ1):c.-5T>C rs532941548
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000230.3(LEP):c.21C>T (p.Cys7=) rs201523305
NM_000231.2(SGCG):c.1-8C>T rs745599370
NM_000231.2(SGCG):c.102C>T (p.Arg34=) rs140810408
NM_000231.2(SGCG):c.267A>G (p.Pro89=) rs149595403
NM_000231.2(SGCG):c.414A>G (p.Gln138=) rs770596449
NM_000231.2(SGCG):c.506-7T>G rs774582375
NM_000231.2(SGCG):c.507G>T (p.Gly169=) rs199905729
NM_000232.4(SGCB):c.498C>T (p.Ile166=) rs748602445
NM_000232.4(SGCB):c.768C>T (p.Ile256=) rs149121189
NM_000232.4(SGCB):c.943G>A (p.Gly315Arg) rs150395645
NM_000232.4(SGCB):c.9_14dup (p.Ala8_Ala9dup) rs886044103
NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile) rs114320052
NM_000233.4(LHCGR):c.1797C>A (p.Ile599=) rs143697410
NM_000235.4(LIPA):c.1128C>T (p.Asp376=) rs200420117
NM_000235.4(LIPA):c.714G>A (p.Ala238=) rs139282720
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.2(MEFV):c.1587+33C>G rs146820856
NM_000243.2(MEFV):c.932C>T (p.Ala311Val) rs74346519
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112
NM_000245.4(MET):c.1932C>T (p.His644=) rs45520237
NM_000245.4(MET):c.2584-7del rs587780736
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000249.3(MLH1):c.222T>C (p.Asp74=) rs755073786
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000251.2(MSH2):c.2400A>G (p.Leu800=) rs201298777
NM_000251.2(MSH2):c.557A>G (p.Asn186Ser) rs151129360
NM_000253.3(MTTP):c.2433G>C (p.Leu811Phe) rs144590904
NM_000253.3(MTTP):c.419A>G (p.Asn140Ser) rs61733140
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=) rs372502369
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=) rs36212064
NM_000257.4(MYH7):c.1000-7C>T rs200129563
NM_000257.4(MYH7):c.114C>T (p.Phe38=) rs146210693
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.4(MYH7):c.1755C>T (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile) rs727503262
NM_000257.4(MYH7):c.2472C>T (p.Val824=) rs397516150
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) rs765895405
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.714C>T (p.Asn238=) rs202141819
NM_000260.4(MYO7A):c.1209C>T (p.Tyr403=) rs782397746
NM_000260.4(MYO7A):c.1554+8G>A rs111033227
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=) rs797044658
NM_000260.4(MYO7A):c.2088C>T (p.Tyr696=) rs781964494
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=) rs373495082
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966
NM_000260.4(MYO7A):c.3582C>T (p.Leu1194=) rs886044828
NM_000260.4(MYO7A):c.3729G>A (p.Pro1243=) rs727504023
NM_000260.4(MYO7A):c.3750+7G>A rs397516305
NM_000260.4(MYO7A):c.3750+9G>A rs111033252
NM_000260.4(MYO7A):c.3927G>T (p.Val1309=) rs181729570
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu) rs199989979
NM_000260.4(MYO7A):c.4441+7C>T rs372493678
NM_000260.4(MYO7A):c.4441+8G>A rs766743441
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) rs201251963
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399
NM_000260.4(MYO7A):c.5004C>T (p.Tyr1668=) rs1479835169
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332
NM_000260.4(MYO7A):c.5169-6C>T rs768594224
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=) rs111033287
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669
NM_000260.4(MYO7A):c.5480+10G>A rs768513428
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val) rs948962
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) rs397516327
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544
NM_000260.4(MYO7A):c.849+7C>G rs370740228
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000271.5(NPC1):c.180+8C>T rs778096289
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.5(NPC1):c.3393C>T (p.Ile1131=) rs777356809
NM_000271.5(NPC1):c.631+7A>G rs886044570
NM_000272.4(NPHP1):c.1035A>G (p.Gln345=) rs371112962
NM_000272.4(NPHP1):c.336G>A (p.Gly112=) rs144217506
NM_000272.4(NPHP1):c.829C>A (p.Arg277=) rs367600757
NM_000275.3(OCA2):c.574-19A>G rs145242923
NM_000278.5(PAX2):c.360C>T (p.Ala120=) rs41291450
NM_000280.4(PAX6):c.1137A>C (p.Thr379=) rs143477661
NM_000280.4(PAX6):c.990G>A (p.Pro330=) rs146261351
NM_000283.3(PDE6B):c.2193+15C>T rs376883350
NM_000283.3(PDE6B):c.2344G>A (p.Val782Met) rs145124626
NM_000283.3(PDE6B):c.267C>T (p.Ala89=) rs147181781
NM_000283.3(PDE6B):c.794G>A (p.Arg265Gln) rs144562730
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527
NM_000285.4(PEPD):c.104G>A (p.Arg35Gln) rs200435937
NM_000288.4(PEX7):c.339+10A>C rs374668045
NM_000288.4(PEX7):c.339+10A>G rs374668045
NM_000293.3(PHKB):c.1459-9G>T rs201995780
NM_000293.3(PHKB):c.2445T>C (p.Phe815=) rs61494991
NM_000295.5(SERPINA1):c.324C>T (p.Leu108=) rs1555369128
NM_000295.5(SERPINA1):c.450A>G (p.Leu150=) rs146596574
NM_000297.4(PKD2):c.1549-4T>C rs374450718
NM_000303.3(PMM2):c.441C>G (p.Leu147=) rs146990448
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985
NM_000304.4(PMP22):c.320-4C>T rs377467465
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000306.4(POU1F1):c.252C>T (p.His84=) rs4988460
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007
NM_000306.4(POU1F1):c.605-5T>G rs201406891
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000314.7(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000316.3(PTH1R):c.313+4C>T rs200207404
NM_000321.2(RB1):c.2212-16T>A rs201258424
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly) rs542296728
NM_000322.5(PRPH2):c.888C>T (p.Pro296=) rs183714869
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434
NM_000326.5(RLBP1):c.303C>T (p.Arg101=) rs144254383
NM_000327.3(ROM1):c.47G>A (p.Arg16His) rs143166696
NM_000327.3(ROM1):c.81G>T (p.Leu27=) rs148196509
NM_000329.3(RPE65):c.94+10G>A rs777879312
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.483-5C>G rs191547933
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866
NM_000335.4(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000335.4(SCN5A):c.694G>A (p.Val232Ile) rs45471994
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) rs751050999
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033
NM_000337.5(SGCD):c.123C>G (p.Leu41=) rs200670993
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.394G>A (p.Val132Ile) rs367819390
NM_000337.5(SGCD):c.402T>C (p.Ala134=) rs190935424
NM_000337.5(SGCD):c.45T>A (p.Pro15=) rs727505092
NM_000337.5(SGCD):c.510G>A (p.Glu170=) rs368838376
NM_000337.5(SGCD):c.543T>G (p.Pro181=) rs200451694
NM_000337.5(SGCD):c.69C>T (p.Tyr23=) rs397517923
NM_000337.5(SGCD):c.768G>A (p.Thr256=) rs376141942
NM_000337.5(SGCD):c.793G>A (p.Val265Ile) rs772185467
NM_000338.3(SLC12A1):c.1089A>G (p.Ala363=) rs142646329
NM_000346.4(SOX9):c.685+7C>T rs370951695
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=) rs113698006
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=) rs187965758
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg) rs142506651
NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=) rs188775667
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.3(ABCA4):c.5312+8G>A rs187953772
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.3(ABCA4):c.5880C>T (p.Val1960=) rs746250336
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val) rs145065936
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.870G>A (p.Arg290=) rs794727902
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val) rs148709148
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_000360.4(TH):c.342G>A (p.Glu114=) rs886038763
NM_000368.4(TSC1):c.1084C>T (p.Pro362Ser) rs397514864
NM_000368.4(TSC1):c.1163T>C (p.Leu388Pro) rs377598226
NM_000368.4(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557
NM_000368.4(TSC1):c.1775C>T (p.Thr592Met) rs775869914
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.201A>G (p.Pro67=) rs371555137
NM_000368.4(TSC1):c.2115G>A (p.Glu705=) rs142662480
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) rs397514859
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000371.3(TTR):c.336+19G>A rs75517067
NM_000371.3(TTR):c.384C>T (p.Ala128=) rs143906738
NM_000372.5(TYR):c.1161T>C (p.Leu387=) rs141967840
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847
NM_000373.4(UMPS):c.126C>A (p.Gly42=) rs143828400
NM_000377.2(WAS):c.538C>A (p.His180Asn) rs145040665
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894
NM_000390.4(CHM):c.1771-8T>C rs912390081
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.4(TPP1):c.1552-9C>T rs369699167
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255
NM_000391.4(TPP1):c.244C>T (p.Leu82=) rs794727623
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.4(TPP1):c.687+20C>T rs569432039
NM_000391.4(TPP1):c.6A>T (p.Gly2=) rs747594496
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397
NM_000392.5(ABCC2):c.1007C>T (p.Thr336Met) rs149854486
NM_000392.5(ABCC2):c.1032-3C>T rs139800035
NM_000392.5(ABCC2):c.2034C>T (p.Ser678=) rs1554850241
NM_000392.5(ABCC2):c.2714G>A (p.Arg905Lys) rs201874841
NM_000392.5(ABCC2):c.2955G>A (p.Ala985=) rs139082536
NM_000392.5(ABCC2):c.306C>A (p.Thr102=) rs559908064
NM_000392.5(ABCC2):c.3576C>G (p.Thr1192=) rs146575217
NM_000392.5(ABCC2):c.3614+6G>C rs17222716
NM_000392.5(ABCC2):c.3648C>A (p.Asn1216Lys) rs144967259
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly) rs17222674
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=) rs376612765
NM_000393.5(COL5A2):c.322+8T>C rs372227642
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817
NM_000396.4(CTSK):c.684C>T (p.Pro228=) rs142097792
NM_000401.3(EXT2):c.1687G>A (p.Glu563Lys) rs148711133
NM_000407.4(GP1BB):c.399C>T (p.Ala133=) rs142352780
NM_000409.4(GUCA1A):c.152C>T (p.Ser51Leu) rs137931613
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=) rs771922933
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys) rs546653967
NM_000414.4(HSD17B4):c.1855-9_1855-7del rs1440146478
NM_000414.4(HSD17B4):c.357C>A (p.Ile119=) rs374169186
NM_000426.3(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186
NM_000426.3(LAMA2):c.1782+10C>T rs200030296
NM_000426.3(LAMA2):c.2037G>C (p.Ala679=) rs398123369
NM_000426.3(LAMA2):c.2115T>G (p.Leu705=) rs149753273
NM_000426.3(LAMA2):c.2304C>T (p.Asp768=) rs142126511
NM_000426.3(LAMA2):c.2382C>T (p.Gly794=) rs147744763
NM_000426.3(LAMA2):c.255C>T (p.Ile85=) rs142083777
NM_000426.3(LAMA2):c.2736G>A (p.Ala912=) rs142671449
NM_000426.3(LAMA2):c.2993G>A (p.Arg998His) rs144946631
NM_000426.3(LAMA2):c.3585A>G (p.Leu1195=) rs780444488
NM_000426.3(LAMA2):c.3645A>G (p.Pro1215=) rs794727396
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.4926A>G (p.Thr1642=) rs62421010
NM_000426.3(LAMA2):c.4959+6G>T rs148060790
NM_000426.3(LAMA2):c.5469C>T (p.Ser1823=) rs753886576
NM_000426.3(LAMA2):c.5601T>G (p.Ser1867=) rs780368037
NM_000426.3(LAMA2):c.6002G>A (p.Arg2001Lys) rs151009169
NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053
NM_000426.3(LAMA2):c.6345C>T (p.Pro2115=) rs200364660
NM_000426.3(LAMA2):c.6426T>C (p.Asn2142=) rs150730793
NM_000426.3(LAMA2):c.6444G>A (p.Val2148=) rs781231694
NM_000426.3(LAMA2):c.6629T>C (p.Val2210Ala) rs78880369
NM_000426.3(LAMA2):c.6697G>A (p.Val2233Ile) rs150945378
NM_000426.3(LAMA2):c.6786G>A (p.Ser2262=) rs398123382
NM_000426.3(LAMA2):c.7111T>G (p.Phe2371Val) rs150644209
NM_000426.3(LAMA2):c.7300+10T>A rs200469923
NM_000426.3(LAMA2):c.7395T>C (p.Asp2465=) rs140483001
NM_000426.3(LAMA2):c.7440-9G>A rs369558532
NM_000426.3(LAMA2):c.8211A>C (p.Pro2737=) rs369596190
NM_000426.3(LAMA2):c.8692A>C (p.Arg2898=) rs200718262
NM_000426.3(LAMA2):c.8728G>A (p.Val2910Ile) rs141479751
NM_000426.3(LAMA2):c.8842G>A (p.Gly2948Ser) rs143638361
NM_000426.3(LAMA2):c.8918C>T (p.Thr2973Met) rs145842163
NM_000426.3(LAMA2):c.9211+6T>C rs201375881
NM_000426.3(LAMA2):c.9340G>A (p.Val3114Ile) rs200796753
NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr) rs115650537
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042
NM_000436.4(OXCT1):c.1491C>T (p.Asp497=) rs144283422
NM_000440.3(PDE6A):c.594G>A (p.Val198=) rs398123394
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) rs150946659
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=) rs766572560
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=) rs541538556
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=) rs202033028
NM_000443.4(ABCB4):c.1119+8A>C rs1471180323
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_000443.4(ABCB4):c.201C>T (p.His67=) rs747703354
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=) rs8187802
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=) rs8187808
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=) rs766402494
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=) rs371394487
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=) rs771437431
NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=) rs752578370
NM_000443.4(ABCB4):c.525G>A (p.Thr175=) rs558416191
NM_000444.6(PHEX):c.1344C>T (p.Asp448=) rs144911719
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) rs201820569
NM_000452.3(SLC10A2):c.108G>A (p.Thr36=) rs141524545
NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe) rs199553519
NM_000452.3(SLC10A2):c.175C>T (p.Leu59=) rs150970825
NM_000452.3(SLC10A2):c.194C>T (p.Pro65Leu) rs112657170
NM_000452.3(SLC10A2):c.762-3T>C rs190734512
NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu) rs61966074
NM_000455.4(STK11):c.357C>T (p.Asn119=) rs372511774
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000457.4(HNF4A):c.1387A>G (p.Ile463Val) rs147638455
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val) rs141193981
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) rs144249535
NM_000466.3(PEX1):c.2268A>G (p.Lys756=) rs1434174453
NM_000466.3(PEX1):c.2868T>A (p.Val956=) rs200663477
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=) rs753334806
NM_000478.6(ALPL):c.1479C>T (p.Asn493=) rs759758484
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly) rs184095519
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778
NM_000478.6(ALPL):c.921G>A (p.Pro307=) rs1553414111
NM_000487.6(ARSA):c.930C>T (p.Gly310=) rs767751622
NM_000489.5(ATRX):c.1868A>G (p.Lys623Arg) rs145678415
NM_000489.5(ATRX):c.4120+4A>C rs200420513
NM_000489.5(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301
NM_000489.5(ATRX):c.4810-3T>C rs370596323
NM_000492.3(CFTR):c.*2G>A rs150914702
NM_000492.3(CFTR):c.-461A>G rs185028612
NM_000492.3(CFTR):c.1365G>A (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1446T>A (p.Ile482=) rs914422460
NM_000492.3(CFTR):c.164+12T>C rs121908790
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.2055A>G (p.Gln685=) rs1457520634
NM_000492.3(CFTR):c.221G>A (p.Arg74Gln) rs142540482
NM_000492.3(CFTR):c.2245C>T (p.Leu749=) rs151235408
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2559T>C (p.Ile853=) rs1800104
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2736G>A (p.Ser912=) rs200901072
NM_000492.3(CFTR):c.2736G>C (p.Ser912=) rs200901072
NM_000492.3(CFTR):c.2769C>T (p.Ala923=) rs1800108
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.3564G>A (p.Ser1188=) rs146804928
NM_000492.3(CFTR):c.360G>A (p.Ala120=) rs1800077
NM_000492.3(CFTR):c.3718-24G>A rs374013084
NM_000492.3(CFTR):c.3852A>G (p.Lys1284=) rs547248892
NM_000492.3(CFTR):c.393T>C (p.Phe131=) rs1039221071
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4197C>G (p.Leu1399=) rs79688066
NM_000492.3(CFTR):c.4243-20A>G rs138025486
NM_000492.3(CFTR):c.4296C>T (p.Asn1432=) rs761669740
NM_000492.3(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.663G>A (p.Ala221=) rs758147990
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.3(CFTR):c.960A>G (p.Leu320=) rs56093012
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.4(CFTR):c.274-6T>C rs371315549
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000493.4(COL10A1):c.1927G>A (p.Asp643Asn) rs201121404
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.470-10C>G rs200663056
NM_000503.6(EYA1):c.1699-8T>C rs201537030
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674
NM_000514.4(GDNF):c.138G>A (p.Ala46=) rs375385439
NM_000515.5(GH1):c.15C>T (p.Ser5=) rs111957225
NM_000515.5(GH1):c.16C>A (p.Arg6=) rs140576665
NM_000520.6(HEXA):c.1527-6T>C rs199914308
NM_000525.3(KCNJ11):c.678C>T (p.Pro226=) rs74162102
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000539.3(RHO):c.362-10T>C rs568571580
NM_000539.3(RHO):c.480C>A (p.Thr160=) rs151063543
NM_000540.2(RYR1):c.10032C>T (p.Pro3344=) rs376687300
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.10119G>A (p.Val3373=) rs140689610
NM_000540.2(RYR1):c.10917G>A (p.Thr3639=) rs371952058
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.12881C>T (p.Thr4294Met) rs587784372
NM_000540.2(RYR1):c.12884C>T (p.Ala4295Val) rs193922855
NM_000540.2(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350
NM_000540.2(RYR1):c.12990C>G (p.Thr4330=) rs184450380
NM_000540.2(RYR1):c.13350G>A (p.Gly4450=) rs748743312
NM_000540.2(RYR1):c.13369A>T (p.Met4457Leu) rs867851900
NM_000540.2(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756
NM_000540.2(RYR1):c.14270G>A (p.Arg4757His) rs768360593
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14817C>T (p.Asp4939=) rs193922895
NM_000540.2(RYR1):c.2037C>A (p.Thr679=) rs571569206
NM_000540.2(RYR1):c.2091C>T (p.Ala697=) rs138704724
NM_000540.2(RYR1):c.2121C>A (p.Gly707=) rs146104858
NM_000540.2(RYR1):c.2160C>G (p.Leu720=) rs200914778
NM_000540.2(RYR1):c.2319C>T (p.Asp773=) rs374924686
NM_000540.2(RYR1):c.271-7C>G rs192495718
NM_000540.2(RYR1):c.3108C>A (p.Asp1036Glu) rs759317223
NM_000540.2(RYR1):c.3111C>T (p.Ser1037=) rs145434723
NM_000540.2(RYR1):c.3381C>T (p.Arg1127=) rs200780880
NM_000540.2(RYR1):c.4113G>C (p.Arg1371Ser) rs551509462
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4230C>T (p.Leu1410=) rs750872878
NM_000540.2(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.2(RYR1):c.4980C>T (p.Arg1660=) rs374115286
NM_000540.2(RYR1):c.5235G>A (p.Thr1745=) rs149471411
NM_000540.2(RYR1):c.5364T>G (p.Ala1788=) rs200950362
NM_000540.2(RYR1):c.5484C>T (p.Asp1828=) rs775744847
NM_000540.2(RYR1):c.5637C>T (p.Asp1879=) rs143418190
NM_000540.2(RYR1):c.5736G>A (p.Glu1912=) rs753416949
NM_000540.2(RYR1):c.6150G>A (p.Glu2050=) rs727504131
NM_000540.2(RYR1):c.624C>T (p.Cys208=) rs746914281
NM_000540.2(RYR1):c.6645C>T (p.Leu2215=) rs146617004
NM_000540.2(RYR1):c.6654C>T (p.Gly2218=) rs149185729
NM_000540.2(RYR1):c.7433C>A (p.Thr2478Asn) rs141298868
NM_000540.2(RYR1):c.7608G>A (p.Leu2536=) rs201686887
NM_000540.2(RYR1):c.7615-5C>T rs768008924
NM_000540.2(RYR1):c.7923C>G (p.Leu2641=) rs142558977
NM_000540.2(RYR1):c.8073C>T (p.Tyr2691=) rs202160739
NM_000540.2(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420
NM_000540.2(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676
NM_000540.2(RYR1):c.8733C>A (p.Leu2911=) rs200427576
NM_000540.2(RYR1):c.9242T>C (p.Met3081Thr) rs147012990
NM_000540.2(RYR1):c.9262G>A (p.Val3088Met) rs145044872
NM_000540.2(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911
NM_000540.2(RYR1):c.9385C>T (p.Leu3129Phe) rs143445685
NM_000540.2(RYR1):c.9456C>T (p.Phe3152=) rs369206584
NM_000540.2(RYR1):c.94C>T (p.Leu32Phe) rs138630815
NM_000540.2(RYR1):c.9624G>T (p.Pro3208=) rs552470353
NM_000540.2(RYR1):c.9685+16C>T rs45496799
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3]) rs398123469
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673
NM_000541.5(SAG):c.357G>A (p.Thr119=) rs757487948
NM_000541.5(SAG):c.468C>T (p.Phe156=) rs375593027
NM_000541.5(SAG):c.474A>G (p.Thr158=) rs886042737
NM_000541.5(SAG):c.843G>A (p.Thr281=) rs374774483
NM_000546.5(TP53):c.559+8G>A rs775915220
NM_000546.5(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223
NM_000548.5(TSC2):c.1258-10C>G rs794727093
NM_000548.5(TSC2):c.1308G>T (p.Pro436=) rs753764275
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591
NM_000548.5(TSC2):c.148A>G (p.Met50Val) rs140618379
NM_000548.5(TSC2):c.1600-9T>C rs886043268
NM_000548.5(TSC2):c.1818C>T (p.Ile606=) rs547389841
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397
NM_000548.5(TSC2):c.2220+4C>G rs781186613
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr) rs759837836
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) rs778352969
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln) rs45473098
NM_000548.5(TSC2):c.3610+6G>A rs45517301
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=) rs201599540
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=) rs368712041
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr) rs147719291
NM_000548.5(TSC2):c.4493+7C>A rs199943270
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=) rs751305758
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met) rs772687631
NM_000548.5(TSC2):c.5068+9G>A rs45445593
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000548.5(TSC2):c.619G>A (p.Val207Ile) rs139929314
NM_000548.5(TSC2):c.849-8A>G rs765336852
NM_000550.3(TYRP1):c.785C>T (p.Thr262Met) rs61752939
NM_000551.3(VHL):c.183C>G (p.Pro61=) rs63650860
NM_000553.6(WRN):c.2784A>G (p.Gly928=) rs755729832
NM_000601.6(HGF):c.1008G>A (p.Glu336=) rs148714837
NM_000601.6(HGF):c.1814C>T (p.Thr605Ile) rs147075806
NM_000601.6(HGF):c.1832G>C (p.Ser611Thr) rs141774517
NM_000601.6(HGF):c.2019T>C (p.Tyr673=) rs367800414
NM_000601.6(HGF):c.270T>C (p.Asp90=) rs145598174
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878
NM_000660.7(TGFB1):c.887G>A (p.Arg296Gln) rs200164212
NM_000702.4(ATP1A2):c.1652-8C>T rs370023134
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) rs141467566
NM_000702.4(ATP1A2):c.2187T>C (p.Ile729=) rs751808345
NM_000702.4(ATP1A2):c.2412C>T (p.Ile804=) rs143969080
NM_000702.4(ATP1A2):c.2973C>T (p.Tyr991=) rs149286529
NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln) rs373178892
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=) rs373390136
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=) rs147021347
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) rs146932786
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=) rs398123514
NM_000717.5(CA4):c.923C>A (p.Ala308Asp) rs201580764
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=) rs398123517
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) rs374857905
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000719.7(CACNA1C):c.4140+4G>A rs111442547
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568
NM_000719.7(CACNA1C):c.5091+8G>A rs768117202
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=) rs750835120
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=) rs527741368
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=) rs369079645
NM_000726.4(CACNB4):c.1437G>A (p.Gln479=) rs794727118
NM_000726.4(CACNB4):c.36G>A (p.Ala12=) rs754380009
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys) rs141721605
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085
NM_000742.4(CHRNA2):c.873C>T (p.Ser291=) rs76140563
NM_000744.6(CHRNA4):c.77-4G>A rs201123897
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys) rs56175056
NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp) rs76378652
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=) rs56142348
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser) rs111969225
NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln) rs755416498
NM_000744.7(CHRNA4):c.1494C>T (p.Ala498=) rs137860047
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met) rs121912282
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=) rs121912283
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000744.7(CHRNA4):c.729G>A (p.Pro243=) rs121912253
NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=) rs767533378
NM_000780.4(CYP7A1):c.38C>T (p.Ala13Val) rs147162838
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) rs35873579
NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=) rs886044581
NM_000784.4(CYP27A1):c.699C>A (p.Ile233=) rs1178297854
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser) rs1800496
NM_000823.4(GHRHR):c.885G>T (p.Val295=) rs146944568
NM_000834.4(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596
NM_000843.4(GRM6):c.1455C>T (p.Gly485=) rs149519053
NM_000843.4(GRM6):c.1571C>T (p.Pro524Leu) rs143491269
NM_000843.4(GRM6):c.588C>T (p.Pro196=) rs756171835
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln) rs33958176
NM_000875.5(IGF1R):c.2745G>A (p.Ser915=) rs757589571
NM_000875.5(IGF1R):c.84G>A (p.Thr28=) rs372748482
NM_000883.4(IMPDH1):c.1173A>G (p.Thr391=) rs138502867
NM_000883.4(IMPDH1):c.1386G>A (p.Leu462=) rs144587211
NM_000883.4(IMPDH1):c.1551C>T (p.Ser517=) rs148875137
NM_000883.4(IMPDH1):c.1623C>T (p.Phe541=) rs749416988
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) rs547740249
NM_000941.3(POR):c.1891G>A (p.Val631Ile) rs145782750
NM_000941.3(POR):c.687C>T (p.Ala229=) rs72557906
NM_001004320.2(AGMO):c.1213C>T (p.Arg405Ter) rs139309795
NM_001004334.4(GPR179):c.582C>A (p.Thr194=) rs756762102
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp) rs200936863
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln) rs189931659
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_001005242.3(PKP2):c.918C>T (p.Pro306=) rs368656084
NM_001005360.2(DNM2):c.216G>A (p.Gln72=) rs368075301
NM_001008215.3(COA5):c.*3C>G rs372867268
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) rs147003118
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln) rs140660854
NM_001015877.2(PHF6):c.414C>T (p.Ser138=) rs200423380
NM_001015880.2(PAPSS2):c.1167C>T (p.Asp389=) rs145242127
NM_001017995.3(SH3PXD2B):c.1063-9_1063-8delinsCT rs797044638
NM_001017995.3(SH3PXD2B):c.1398C>T (p.Pro466=) rs140209484
NM_001017995.3(SH3PXD2B):c.1542C>T (p.Pro514=) rs780292269
NM_001017995.3(SH3PXD2B):c.1955C>T (p.Thr652Met) rs148050566
NM_001017995.3(SH3PXD2B):c.698C>T (p.Thr233Ile) rs149519060
NM_001017995.3(SH3PXD2B):c.785+4C>G rs369555721
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131
NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[1] (p.Gln65_Gln71del) rs774172072
NM_001025295.3(IFITM5):c.100C>T (p.Arg34Ter) rs531009160
NM_001029882.3(AHDC1):c.2438G>A (p.Arg813His) rs138299564
NM_001029883.3(PCARE):c.2191G>A (p.Val731Ile) rs201790782
NM_001029883.3(PCARE):c.2346A>G (p.Gln782=) rs181545106
NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp) rs201706430
NM_001031679.3(MSRB3):c.-67G>C rs368104588
NM_001031710.3(KLHL7):c.1533C>T (p.Val511=) rs886043663
NM_001033855.3(DCLRE1C):c.420G>A (p.Ala140=) rs146832860
NM_001034850.2(RETREG1):c.750G>T (p.Leu250=) rs767329180
NM_001034852.3(SMOC1):c.230C>T (p.Pro77Leu) rs143606483
NM_001035.3(RYR2):c.10231-4T>C rs117180147
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=) rs763374929
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=) rs375213838
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT rs727504630
NM_001035.3(RYR2):c.1527C>T (p.Ser509=) rs886042568
NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala) rs780266883
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253
NM_001035.3(RYR2):c.4160+7A>G rs377465289
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887
NM_001037.5(SCN1B):c.273G>A (p.Val91=) rs16969926
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu) rs150434290
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) rs143592561
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His) rs144717803
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=) rs138680809
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541
NM_001039141.3(TRIOBP):c.3309C>T (p.His1103=) rs199594270
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys) rs201117318
NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=) rs368119524
NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=) rs55821172
NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser) rs201794404
NM_001039141.3(TRIOBP):c.6360C>T (p.Ser2120=) rs375936342
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=) rs200793989
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=) rs373050209
NM_001039348.3(EFEMP1):c.1413C>T (p.Ser471=) rs374690853
NM_001039523.3(CHRNA1):c.204G>A (p.Gln68=) rs886043372
NM_001039523.3(CHRNA1):c.730C>T (p.Leu244=) rs150638770
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) rs141202530
NM_001039876.3(SYNE4):c.756G>A (p.Ala252=) rs137899688
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423
NM_001040142.2(SCN2A):c.2016+10A>G rs886042771
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_001040142.2(SCN2A):c.5121G>A (p.Leu1707=) rs377063535
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=) rs1177406324
NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=) rs767592553
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756
NM_001040167.2(LFNG):c.1036G>C (p.Val346Leu) rs71647813
NM_001042384.2(CEP63):c.905C>G (p.Thr302Ser) rs142766824
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=) rs188888939
NM_001042472.3(ABHD12):c.788-10_788-7del rs565270893
NM_001042702.4(PJVK):c.250T>A (p.Ser84Thr) rs200507933
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met) rs138509553
NM_001048166.1(STIL):c.1005A>G (p.Glu335=) rs149296029
NM_001048166.1(STIL):c.1024-4T>C rs188900275
NM_001048166.1(STIL):c.1227T>C (p.Ser409=) rs200532713
NM_001048166.1(STIL):c.152+4T>C rs368201717
NM_001048166.1(STIL):c.2070A>T (p.Ser690=) rs367887740
NM_001048166.1(STIL):c.2259C>G (p.Ser753=) rs774035449
NM_001048166.1(STIL):c.2906A>G (p.His969Arg) rs148193936
NM_001048166.1(STIL):c.3156C>T (p.Ser1052=) rs113337758
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu) rs587778542
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001072.4(UGT1A6):c.1119T>C (p.Gly373=) rs139698110
NM_001072.4(UGT1A6):c.1158C>T (p.Pro386=) rs763217521
NM_001072.4(UGT1A6):c.1349C>T (p.Pro450Leu) rs114982090
NM_001072.4(UGT1A6):c.862-6207A>G rs148755655
NM_001072.4(UGT1A6):c.862-6270C>T rs199766420
NM_001072.4(UGT1A6):c.862-6421T>C rs144217005
NM_001072.4(UGT1A6):c.862-6588G>A rs149071335
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621
NM_001077365.2(POMT1):c.1365+15C>T rs58896330
NM_001077365.2(POMT1):c.1443C>T (p.His481=) rs139415150
NM_001077365.2(POMT1):c.1486+9G>A rs547775333
NM_001077365.2(POMT1):c.1698+10C>A rs184131819
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=) rs376373313
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130
NM_001077365.2(POMT1):c.2003+9G>A rs368975092
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646
NM_001077365.2(POMT1):c.30G>A (p.Val10=) rs201533471
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523
NM_001077365.2(POMT1):c.345G>A (p.Ser115=) rs147212285
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210
NM_001077365.2(POMT1):c.57T>C (p.Leu19=) rs886043325
NM_001077365.2(POMT1):c.855+6T>C rs200692465
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) rs370607340
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735
NM_001077446.4(TSEN34):c.-8G>A rs573039542
NM_001079.3(ZAP70):c.1025T>C (p.Ile342Thr) rs142702703
NM_001079802.2(FKTN):c.180A>G (p.Lys60=) rs886042513
NM_001079802.2(FKTN):c.198C>G (p.Ser66=) rs367868644
NM_001079802.2(FKTN):c.21C>T (p.Asn7=) rs564632018
NM_001079802.2(FKTN):c.333T>C (p.Thr111=) rs141729611
NM_001079802.2(FKTN):c.357A>G (p.Leu119=) rs760933616
NM_001079802.2(FKTN):c.411C>T (p.Cys137=) rs537001725
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) rs142540289
NM_001079866.2(BCS1L):c.349C>A (p.Arg117=) rs777735526
NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg) rs200543687
NM_001080522.2(CC2D2A):c.1017+7G>A rs137919504
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1731G>A (p.Ser577=) rs376746356
NM_001080522.2(CC2D2A):c.3145C>A (p.Arg1049=) rs386833750
NM_001080522.2(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973
NM_001080522.2(CC2D2A):c.355T>C (p.Leu119=) rs202150325
NM_001080522.2(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421
NM_001080522.2(CC2D2A):c.4648C>T (p.Leu1550=) rs199861496
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=) rs370336923
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe) rs201894544
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=) rs368907353
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del) rs797046038
NM_001083614.2(EARS2):c.280A>G (p.Met94Val) rs200139797
NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu) rs139460397
NM_001083961.2(WDR62):c.1769-7C>T rs137919897
NM_001083961.2(WDR62):c.189G>T (p.Glu63Asp) rs201053854
NM_001083961.2(WDR62):c.2040T>C (p.His680=) rs765451882
NM_001083961.2(WDR62):c.2211-4G>A rs202109439
NM_001083961.2(WDR62):c.2766C>T (p.Arg922=) rs373906889
NM_001083961.2(WDR62):c.2976G>A (p.Ser992=) rs757294519
NM_001083961.2(WDR62):c.3087C>T (p.Cys1029=) rs141344823
NM_001083961.2(WDR62):c.3303G>A (p.Thr1101=) rs117887683
NM_001083961.2(WDR62):c.3612C>T (p.Gly1204=) rs139946168
NM_001083961.2(WDR62):c.4122C>T (p.Gly1374=) rs773948810
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile) rs147652186
NM_001083961.2(WDR62):c.477G>A (p.Ala159=) rs146485488
NM_001083961.2(WDR62):c.525C>T (p.Tyr175=) rs779093591
NM_001083962.2(TCF4):c.1245T>C (p.His415=) rs148909575
NM_001083962.2(TCF4):c.341G>A (p.Arg114Lys) rs139876825
NM_001083962.2(TCF4):c.504A>G (p.Val168=) rs370160994
NM_001083962.2(TCF4):c.594G>T (p.Ser198=) rs368553922
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu) rs143929832
NM_001098671.2(RASGRP2):c.371+7G>T rs181901181
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=) rs746842727
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001101426.4(CRPPA):c.1147C>A (p.Pro383Thr) rs571551238
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=) rs761842188
NM_001101426.4(CRPPA):c.261A>G (p.Val87=) rs886044356
NM_001101426.4(CRPPA):c.52C>T (p.Leu18=) rs886043287
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=) rs532057629
NM_001101426.4(CRPPA):c.825G>A (p.Ser275=) rs766874330
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665
NM_001102608.2(COL6A6):c.4300G>T (p.Gly1434Ter) rs140872639
NM_001103.3(ACTN2):c.1235C>T (p.Thr412Met) rs139515659
NM_001105206.3(LAMA4):c.3165C>T (p.Ser1055=) rs782303510
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=) rs150069819
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004
NM_001110219.3(GJB6):c.672A>G (p.Arg224=) rs756597598
NM_001110556.2(FLNA):c.1107C>T (p.Pro369=) rs886044791
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001110556.2(FLNA):c.2023-8C>T rs587780335
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.2472C>T (p.Phe824=) rs782669943
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704
NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=) rs398123615
NM_001110556.2(FLNA):c.3216G>A (p.Ala1072=) rs782006734
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) rs199530601
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=) rs182074603
NM_001110556.2(FLNA):c.5218-4G>A rs370196495
NM_001110556.2(FLNA):c.5448G>A (p.Ala1816=) rs782806731
NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=) rs367674709
NM_001110556.2(FLNA):c.6227-7C>T rs370491691
NM_001110556.2(FLNA):c.623-7G>A rs782670288
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) rs200524526
NM_001110556.2(FLNA):c.6993C>T (p.Asp2331=) rs201153928
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) rs781878646
NM_001110556.2(FLNA):c.7362G>A (p.Thr2454=) rs369179210
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=) rs267608633
NM_001110792.2(MECP2):c.563C>A (p.Pro188His) rs61749701
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139
NM_001110792.2(MECP2):c.90C>G (p.Leu30=) rs372500343
NM_001110792.2(MECP2):c.972C>T (p.Val324=) rs398124188
NM_001111125.3(IQSEC2):c.1695C>T (p.Asp565=) rs886044781
NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=) rs781805662
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=) rs147706810
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys) rs957057964
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) rs782536136
NM_001114086.2(CLIC5):c.361G>A (p.Ala121Thr) rs189893797
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11]) rs759134767
NM_001122769.3(LCA5):c.1215T>G (p.Val405=) rs41270545
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr) rs143582502
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=) rs147497014
NM_001123385.2(BCOR):c.2910G>A (p.Ala970=) rs138137552
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083
NM_001126121.2(SLC25A19):c.504C>T (p.Ser168=) rs148474667
NM_001126121.2(SLC25A19):c.565G>A (p.Ala189Thr) rs144393784
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile) rs769399113
NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=) rs147904037
NM_001126121.2(SLC25A19):c.93G>A (p.Ala31=) rs143765189
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=) rs780515850
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr) rs199745070
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=) rs886044439
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430
NM_001127222.2(CACNA1A):c.5133+10G>A rs369033909
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=) rs188863534
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=) rs17846921
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) rs757291476
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=) rs371972266
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=) rs202216404
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=) rs760994682
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6653_6658del (p.His2218_His2219del) rs774721955
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=) rs749587119
NM_001127222.2(CACNA1A):c.978+9T>C rs111366222
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=) rs138980048
NM_001127644.2(GABRA1):c.*2T>A rs762836110
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) rs190024862
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=) rs374616425
NM_001127649.3(PEX26):c.540A>G (p.Leu180=) rs374381444
NM_001127671.2(LIFR):c.1485T>C (p.Ala495=) rs759537735
NM_001127671.2(LIFR):c.2280G>A (p.Leu760=) rs370455274
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756
NM_001127671.2(LIFR):c.2937G>A (p.Ser979=) rs201711670
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala) rs145163157
NM_001127713.1(ATL1):c.1200G>A (p.Lys400=) rs144792471
NM_001127713.1(ATL1):c.631-7T>A rs186528086
NM_001128225.3(SLC39A13):c.222T>A (p.Gly74=) rs753665968
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001128225.3(SLC39A13):c.646-7T>C rs140597965
NM_001128225.3(SLC39A13):c.786+6C>T rs779162662
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=) rs150556863
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=) rs375811590
NM_001128849.2(SMARCA4):c.2850C>T (p.Thr950=) rs141259126
NM_001130089.1(KARS1):c.566+8G>A rs377697859
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=) rs779993051
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.3720-7C>T rs773023641
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=) rs373491498
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg) rs771886198
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089
NM_001130823.3(DNMT1):c.1314C>T (p.Ile438=) rs201487376
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081
NM_001130823.3(DNMT1):c.2835C>T (p.Asn945=) rs539948794
NM_001130987.2(DYSF):c.1053G>A (p.Lys351=) rs778686949
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=) rs373744398
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501
NM_001130987.2(DYSF):c.1371G>A (p.Ala457=) rs140667960
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764
NM_001130987.2(DYSF):c.1449+7C>T rs199608017
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1577-10T>C rs371967475
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.2034G>A (p.Val678=) rs138111360
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496
NM_001130987.2(DYSF):c.2217-11G>A rs200853014
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=) rs553605812
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706
NM_001130987.2(DYSF):c.2865-7_2865-5del rs761299898
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=) rs142404822
NM_001130987.2(DYSF):c.3086-9C>T rs185350547
NM_001130987.2(DYSF):c.316C>T (p.Leu106=) rs374934430
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=) rs150355624
NM_001130987.2(DYSF):c.3403-10G>A rs116733194
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) rs148858485
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=) rs148858485
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=) rs141720146
NM_001130987.2(DYSF):c.378G>A (p.Pro126=) rs377056951
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val) rs201476613
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) rs139529811
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942
NM_001130987.2(DYSF):c.4261G>A (p.Val1421Ile) rs767049254
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) rs148055736
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=) rs577921112
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=) rs769289729
NM_001130987.2(DYSF):c.6174-8G>A rs777167646
NM_001130987.2(DYSF):c.6174-9C>T rs201070766
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717
NM_001130987.2(DYSF):c.690C>T (p.Pro230=) rs376293526
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121
NM_001130987.2(DYSF):c.978A>T (p.Thr326=) rs112007817
NM_001130987.2(DYSF):c.990C>T (p.Leu330=) rs140809078
NM_001131025.1(PEX5):c.129A>G (p.Gly43=) rs932238098
NM_001131025.1(PEX5):c.543C>T (p.Thr181=) rs138205085
NM_001131025.1(PEX5):c.660G>A (p.Arg220=) rs541455903
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu) rs77110978
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser) rs397516621
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999
NM_001134407.3(GRIN2A):c.1069G>A (p.Val357Met) rs78929970
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175
NM_001134407.3(GRIN2A):c.1410T>G (p.Thr470=) rs372058698
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=) rs143594020
NM_001134407.3(GRIN2A):c.741C>T (p.Gly247=) rs141912603
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA rs786200964
NM_001142771.2(PCDH15):c.4498-1564T>C rs193186244
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser) rs145102275
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro) rs398123574
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153
NM_001142800.2(EYS):c.5645-8C>T rs886044616
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys) rs371391349
NM_001145715.2(KPNA7):c.1317+3G>A rs138176387
NM_001145809.2(MYH14):c.1115-4C>T rs142696359
NM_001145809.2(MYH14):c.4740C>T (p.Asp1580=) rs751909208
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val) rs200424400
NM_001146079.2(CLDN14):c.406G>A (p.Val136Ile) rs140918123
NM_001146079.2(CLDN14):c.690C>T (p.His230=) rs149733854
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=) rs45602336
NM_001159699.2(FHL1):c.409G>A (p.Val137Ile) rs139402062
NM_001159699.2(FHL1):c.447G>A (p.Lys149=) rs768142579
NM_001159699.2(FHL1):c.456C>T (p.Ile152=) rs747594885
NM_001159699.2(FHL1):c.737-557C>T rs367592190
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=) rs2229008
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.3635C>T (p.Thr1212Ile) rs200773083
NM_001164277.1(SLC37A4):c.785-7A>G rs781887799
NM_001165927.1(MKS1):c.1098G>A (p.Thr366=) rs369141016
NM_001165927.1(MKS1):c.231+7C>T rs200156751
NM_001165927.1(MKS1):c.438C>T (p.Val146=) rs199684837
NM_001165927.1(MKS1):c.50+258C>T rs369488349
NM_001165927.1(MKS1):c.844A>G (p.Lys282Glu) rs201845569
NM_001165963.4(SCN1A):c.135C>T (p.Asp45=) rs201985242
NM_001165963.4(SCN1A):c.144C>T (p.Gly48=) rs886043534
NM_001165963.4(SCN1A):c.1499G>A (p.Arg500Gln) rs200176684
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=) rs145662732
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn) rs149715258
NM_001165963.4(SCN1A):c.1797G>A (p.Glu599=) rs145035963
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799
NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=) rs138181528
NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=) rs371596040
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=) rs369688121
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512
NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=) rs886043063
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=) rs116478064
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308
NM_001165963.4(SCN1A):c.597A>G (p.Thr199=) rs398123600
NM_001165963.4(SCN1A):c.852T>C (p.Asn284=) rs748747434
NM_001165963.4(SCN1A):c.90A>G (p.Ala30=) rs750748658
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) rs553367989
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=) rs190978463
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264
NM_001170629.2(CHD8):c.456A>G (p.Pro152=) rs61752839
NM_001170629.2(CHD8):c.4921+5G>A rs377595194
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=) rs766317271
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) rs145300090
NM_001171.5(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762
NM_001171.5(ABCC6):c.1263C>T (p.Thr421=) rs114179357
NM_001171.5(ABCC6):c.1424A>T (p.His475Leu) rs151187637
NM_001173467.3(SP7):c.1272G>A (p.Glu424=) rs182820275
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys) rs139997243
NM_001177316.2(SLC34A3):c.1074G>A (p.Val358=) rs146097023
NM_001177316.2(SLC34A3):c.1464T>C (p.Ala488=) rs144666114
NM_001177316.2(SLC34A3):c.1484G>C (p.Gly495Ala) rs140869490
NM_001177316.2(SLC34A3):c.978C>T (p.Ile326=) rs886044633
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=) rs200394848
NM_001182.5(ALDH7A1):c.1176T>C (p.Gly392=) rs935431600
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850
NM_001182.5(ALDH7A1):c.552C>T (p.Pro184=) rs369859575
NM_001182.5(ALDH7A1):c.63T>C (p.Pro21=) rs368427726
NM_001183.6(ATP6AP1):c.43C>T (p.Arg15Trp) rs201620814
NM_001184880.2(PCDH19):c.1209C>T (p.Ser403=) rs372006606
NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=) rs794726896
NM_001184880.2(PCDH19):c.2496C>T (p.Phe832=) rs774555485
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=) rs376946966
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His) rs201611496
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001189.4(NKX3-2):c.148T>G (p.Cys50Gly) rs371597026
NM_001189.4(NKX3-2):c.520G>C (p.Val174Leu) rs559539989
NM_001189.4(NKX3-2):c.873A>G (p.Arg291=) rs921673580
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942
NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=) rs141975755
NM_001191061.2(SLC25A22):c.379C>T (p.Leu127=) rs746201051
NM_001191061.2(SLC25A22):c.464G>C (p.Gly155Ala) rs200992080
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220
NM_001191061.2(SLC25A22):c.726C>T (p.Ala242=) rs771026197
NM_001191061.2(SLC25A22):c.834C>T (p.His278=) rs187824231
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277
NM_001195248.2(APTX):c.742T>A (p.Leu248Met) rs141195622
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) rs555444131
NM_001195263.2(PDZD7):c.1638T>C (p.Asn546=) rs760557332
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys) rs759725715
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) rs749163517
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=) rs370869383
NM_001199107.2(TBC1D24):c.1525+6C>T rs758013935
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=) rs781723084
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=) rs186672543
NM_001200.4(BMP2):c.561C>T (p.Pro187=) rs149465465
NM_001200.4(BMP2):c.891G>A (p.Lys297=) rs147542801
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu) rs139266382
NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=) rs369633003
NM_001201543.2(FAM161A):c.354G>T (p.Gln118His) rs140622968
NM_001203.3(BMPR1B):c.468A>G (p.Arg156=) rs775608689
NM_001206979.2(NR1H4):c.1245T>C (p.Leu415=) rs368975126
NM_001206979.2(NR1H4):c.18T>C (p.Asn6=) rs140648896
NM_001206979.2(NR1H4):c.438G>A (p.Gly146=) rs137946171
NM_001206979.2(NR1H4):c.750C>T (p.Thr250=) rs1322754256
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754
NM_001234.5(CAV3):c.-2C>T rs772475990
NM_001234.5(CAV3):c.384C>T (p.Phe128=) rs773934743
NM_001234.5(CAV3):c.402G>C (p.Ala134=) rs559206877
NM_001234.5(CAV3):c.417C>T (p.Val139=) rs147250678
NM_001235.4(SERPINH1):c.92G>C (p.Gly31Ala) rs140588417
NM_001242957.3(MAK):c.1405G>A (p.Glu469Lys) rs149006687
NM_001242957.3(MAK):c.975G>A (p.Pro325=) rs145014649
NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val) rs201650867
NM_001252024.2(TRPM1):c.2701-10T>A rs201747375
NM_001252024.2(TRPM1):c.2953A>C (p.Met985Leu) rs181499296
NM_001252024.2(TRPM1):c.435C>A (p.Gly145=) rs774819442
NM_001252024.2(TRPM1):c.507C>T (p.His169=) rs201157794
NM_001252024.2(TRPM1):c.924G>A (p.Ser308=) rs376610188
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=) rs111033292
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716
NM_001256789.3(CACNA1F):c.2764G>A (p.Gly922Ser) rs149685267
NM_001256789.3(CACNA1F):c.5827G>A (p.Asp1943Asn) rs374663693
NM_001256850.1(TTN):c.18197-4A>G rs1025136671
NM_001256850.1(TTN):c.29273-7T>G rs778458915
NM_001256850.1(TTN):c.35188+9G>C rs765647346
NM_001256850.1(TTN):c.93175+3G>A rs556524594
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile) rs370300135
NM_001267550.2(TTN):c.100116C>T (p.Phe33372=) rs770089807
NM_001267550.2(TTN):c.100167A>G (p.Pro33389=) rs778478048
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942
NM_001267550.2(TTN):c.100467T>C (p.Ser33489=) rs794727540
NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu) rs139504522
NM_001267550.2(TTN):c.100696A>G (p.Thr33566Ala) rs878854282
NM_001267550.2(TTN):c.101037G>A (p.Gln33679=) rs377190399
NM_001267550.2(TTN):c.10115-4G>A rs367648529
NM_001267550.2(TTN):c.101262A>G (p.Gly33754=) rs374878689
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val) rs773542514
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720
NM_001267550.2(TTN):c.102024A>G (p.Leu34008=) rs727504677
NM_001267550.2(TTN):c.102025T>C (p.Leu34009=) rs794727543
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile) rs200430493
NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=) rs375625664
NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys) rs577667352
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg) rs370077023
NM_001267550.2(TTN):c.102696C>T (p.Val34232=) rs202180775
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783
NM_001267550.2(TTN):c.102885T>C (p.Gly34295=) rs886039175
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=) rs528502993
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) rs371535721
NM_001267550.2(TTN):c.103113T>C (p.Asn34371=) rs886042668
NM_001267550.2(TTN):c.103207C>T (p.Leu34403=) rs773892755
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910
NM_001267550.2(TTN):c.103302T>C (p.Tyr34434=) rs773408387
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile) rs188917199
NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val) rs761105256
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln) rs770742837
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr) rs370618537
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=) rs377391143
NM_001267550.2(TTN):c.104298T>C (p.Ala34766=) rs751788327
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=) rs181679744
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240
NM_001267550.2(TTN):c.104581C>T (p.Arg34861Cys) rs398124463
NM_001267550.2(TTN):c.104605G>A (p.Glu34869Lys) rs563430855
NM_001267550.2(TTN):c.104640G>A (p.Glu34880=) rs373134178
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala) rs376634193
NM_001267550.2(TTN):c.104943A>G (p.Glu34981=) rs372312805
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met) rs368945564
NM_001267550.2(TTN):c.105090C>T (p.Asp35030=) rs72629789
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) rs370137295
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=) rs372521529
NM_001267550.2(TTN):c.105999G>A (p.Gln35333=) rs764231632
NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr) rs727504609
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg) rs200716018
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) rs377337528
NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile) rs754459138
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140
NM_001267550.2(TTN):c.107301C>A (p.Ser35767Arg) rs1558965303
NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala) rs374859388
NM_001267550.2(TTN):c.107593G>A (p.Glu35865Lys) rs372841288
NM_001267550.2(TTN):c.107647T>G (p.Ser35883Ala) rs1553477432
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile) rs397517478
NM_001267550.2(TTN):c.11311+3423T>C rs185931752
NM_001267550.2(TTN):c.11311+3847G>T rs72647902
NM_001267550.2(TTN):c.11311+4088A>G rs142304137
NM_001267550.2(TTN):c.11311+4470A>G rs201945197
NM_001267550.2(TTN):c.11311+4523A>C rs200760091
NM_001267550.2(TTN):c.11311+4802T>C rs139486133
NM_001267550.2(TTN):c.11311+5250T>A rs776361113
NM_001267550.2(TTN):c.11311+5536A>G rs145581345
NM_001267550.2(TTN):c.11312-3866G>A rs145932311
NM_001267550.2(TTN):c.11312-4459T>C rs200378944
NM_001267550.2(TTN):c.11337C>T (p.Ala3779=) rs375603989
NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys) rs727504586
NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys) rs375103237
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile) rs148164929
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) rs186624523
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=) rs727503660
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr) rs397517829
NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly) rs140289517
NM_001267550.2(TTN):c.12401T>A (p.Ile4134Asn) rs112009206
NM_001267550.2(TTN):c.12564C>A (p.Ala4188=) rs547338168
NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr) rs374631591
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752
NM_001267550.2(TTN):c.1288G>A (p.Val430Ile) rs371639583
NM_001267550.2(TTN):c.13090G>A (p.Val4364Met) rs201506104
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432
NM_001267550.2(TTN):c.13340C>T (p.Ser4447Leu) rs777547090
NM_001267550.2(TTN):c.13458C>T (p.Asp4486=) rs748885610
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr) rs191968963
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met) rs201046911
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=) rs183328495
NM_001267550.2(TTN):c.1398+4C>T rs368548209
NM_001267550.2(TTN):c.1398+5G>A rs542965530
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=) rs370208081
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser) rs727503652
NM_001267550.2(TTN):c.1449C>T (p.Ala483=) rs141617218
NM_001267550.2(TTN):c.1450G>A (p.Asp484Asn) rs768211726
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461
NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met) rs371455094
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr) rs201744218
NM_001267550.2(TTN):c.15086G>A (p.Arg5029Gln) rs200792058
NM_001267550.2(TTN):c.15185G>A (p.Ser5062Asn) rs371687650
NM_001267550.2(TTN):c.15430G>A (p.Glu5144Lys) rs766612317
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930
NM_001267550.2(TTN):c.156C>T (p.Pro52=) rs72647842
NM_001267550.2(TTN):c.15822A>T (p.Ala5274=) rs779456916
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp) rs202234492
NM_001267550.2(TTN):c.16057C>A (p.Arg5353=) rs267599069
NM_001267550.2(TTN):c.16078A>G (p.Thr5360Ala) rs749081117
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met) rs72648936
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) rs190636272
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser) rs377042940
NM_001267550.2(TTN):c.16515T>C (p.Ser5505=) rs201625116
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) rs376037792
NM_001267550.2(TTN):c.16581C>T (p.Val5527=) rs373179717
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) rs367821526
NM_001267550.2(TTN):c.16738A>G (p.Asn5580Asp) rs376598696
NM_001267550.2(TTN):c.16959T>C (p.Asp5653=) rs770260995
NM_001267550.2(TTN):c.16964T>C (p.Met5655Thr) rs886044306
NM_001267550.2(TTN):c.17082G>T (p.Leu5694=) rs750996600
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556
NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln) rs200018866
NM_001267550.2(TTN):c.17184A>G (p.Glu5728=) rs200984007
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp) rs377193479
NM_001267550.2(TTN):c.17228G>A (p.Arg5743Gln) rs753892271
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu) rs199778910
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val) rs72648945
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=) rs373963067
NM_001267550.2(TTN):c.180T>C (p.Asp60=) rs144750850
NM_001267550.2(TTN):c.1815T>C (p.Thr605=) rs757604614
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln) rs117551279
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) rs72648947
NM_001267550.2(TTN):c.18557C>T (p.Thr6186Met) rs200359082
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=) rs377556808
NM_001267550.2(TTN):c.18720A>G (p.Arg6240=) rs201395913
NM_001267550.2(TTN):c.18777C>A (p.Thr6259=) rs750180579
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp) rs150231219
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341
NM_001267550.2(TTN):c.19715-4A>G rs375009631
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=) rs751902051
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=) rs371495674
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958
NM_001267550.2(TTN):c.204C>T (p.Pro68=) rs201089861
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser) rs201728165
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser) rs200866883
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798
NM_001267550.2(TTN):c.21003A>G (p.Lys7001=) rs727504579
NM_001267550.2(TTN):c.210G>T (p.Val70=) rs746033038
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818
NM_001267550.2(TTN):c.21273A>G (p.Gln7091=) rs878903172
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=) rs372264428
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=) rs752620885
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909
NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val) rs761223583
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=) rs373223049
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro) rs201065037
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu) rs200061856
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del) rs727503701
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) rs367826445
NM_001267550.2(TTN):c.23067C>T (p.Asp7689=) rs191854953
NM_001267550.2(TTN):c.23076C>T (p.Cys7692=) rs769505705
NM_001267550.2(TTN):c.23091A>G (p.Thr7697=) rs1198504900
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971
NM_001267550.2(TTN):c.23178G>A (p.Ser7726=) rs753546095
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973
NM_001267550.2(TTN):c.23378-10C>A rs72648975
NM_001267550.2(TTN):c.23387G>A (p.Arg7796Gln) rs267599059
NM_001267550.2(TTN):c.23616C>T (p.Asn7872=) rs181206334
NM_001267550.2(TTN):c.24045A>T (p.Ser8015=) rs1060503946
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=) rs199576800
NM_001267550.2(TTN):c.24156A>G (p.Thr8052=) rs749823104
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile) rs200103997
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580
NM_001267550.2(TTN):c.25035C>T (p.Val8345=) rs781552736
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser) rs200972189
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln) rs201418615
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=) rs375022009
NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly) rs148631577
NM_001267550.2(TTN):c.26019C>T (p.His8673=) rs370266918
NM_001267550.2(TTN):c.2611G>T (p.Val871Leu) rs72647861
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser) rs369385294
NM_001267550.2(TTN):c.2629C>A (p.Pro877Thr) rs751640052
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989
NM_001267550.2(TTN):c.2649C>T (p.Phe883=) rs775588479
NM_001267550.2(TTN):c.2650G>A (p.Ala884Thr) rs772195446
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990
NM_001267550.2(TTN):c.26762-10_26762-9insTTGTTTTGTA rs1553893826
NM_001267550.2(TTN):c.26762-9A>G rs200821070
NM_001267550.2(TTN):c.267G>A (p.Ala89=) rs577716745
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790
NM_001267550.2(TTN):c.26928G>A (p.Leu8976=) rs370973715
NM_001267550.2(TTN):c.26932G>C (p.Asp8978His) rs773744166
NM_001267550.2(TTN):c.26991A>C (p.Thr8997=) rs61232800
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg) rs201229221
NM_001267550.2(TTN):c.27198C>G (p.Asn9066Lys) rs369529493
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile) rs141961878
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=) rs372528823
NM_001267550.2(TTN):c.2760C>T (p.His920=) rs138788406
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met) rs727504515
NM_001267550.2(TTN):c.28042C>G (p.Gln9348Glu) rs794727987
NM_001267550.2(TTN):c.28127C>G (p.Thr9376Arg) rs749875409
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997
NM_001267550.2(TTN):c.28175-10C>T rs748478445
NM_001267550.2(TTN):c.28200C>T (p.Asp9400=) rs886044076
NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met) rs375209383
NM_001267550.2(TTN):c.28320C>T (p.Gly9440=) rs375083775
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275
NM_001267550.2(TTN):c.28644G>A (p.Thr9548=) rs376744914
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762
NM_001267550.2(TTN):c.28754A>G (p.Glu9585Gly) rs200856239
NM_001267550.2(TTN):c.28971G>A (p.Ser9657=) rs370903846
NM_001267550.2(TTN):c.2916G>A (p.Pro972=) rs757569345
NM_001267550.2(TTN):c.29577A>G (p.Gln9859=) rs368780181
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe) rs140953779
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg) rs148269839
NM_001267550.2(TTN):c.30088C>T (p.Pro10030Ser) rs368531555
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) rs200902055
NM_001267550.2(TTN):c.30282T>G (p.Ser10094=) rs886042543
NM_001267550.2(TTN):c.30309T>C (p.Phe10103=) rs762141482
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=) rs371447978
NM_001267550.2(TTN):c.30713A>G (p.Lys10238Arg) rs780073797
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505
NM_001267550.2(TTN):c.31071C>T (p.His10357=) rs368973334
NM_001267550.2(TTN):c.31321G>A (p.Glu10441Lys) rs901197333
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868
NM_001267550.2(TTN):c.31441A>G (p.Thr10481Ala) rs370208651
NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu) rs768632287
NM_001267550.2(TTN):c.31518C>T (p.Pro10506=) rs746912694
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln) rs200459347
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile) rs139790668
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832
NM_001267550.2(TTN):c.31846+5A>G rs760788961
NM_001267550.2(TTN):c.31875A>C (p.Thr10625=) rs182934463
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr) rs371452173
NM_001267550.2(TTN):c.32554+5_32554+6del rs771419718
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=) rs372124201
NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1]) rs766756026
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035
NM_001267550.2(TTN):c.33172+4G>A rs756475184
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del) rs368327166
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150
NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser) rs374449452
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln) rs201622536
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del) rs763098227
NM_001267550.2(TTN):c.34675A>G (p.Ile11559Val) rs752903377
NM_001267550.2(TTN):c.34708+9G>T rs397517551
NM_001267550.2(TTN):c.34734A>G (p.Val11578=) rs866407525
NM_001267550.2(TTN):c.35037G>A (p.Pro11679=) rs369095270
NM_001267550.2(TTN):c.35083G>A (p.Glu11695Lys) rs376117402
NM_001267550.2(TTN):c.35268G>A (p.Pro11756=) rs778338717
NM_001267550.2(TTN):c.35313G>A (p.Pro11771=) rs369739111
NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp) rs796478043
NM_001267550.2(TTN):c.3680A>G (p.Lys1227Arg) rs541811273
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr) rs72650057
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) rs374497665
NM_001267550.2(TTN):c.39044-9T>A rs184888200
NM_001267550.2(TTN):c.39099T>C (p.Pro13033=) rs755793186
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888
NM_001267550.2(TTN):c.39166G>T (p.Val13056Leu) rs727504201
NM_001267550.2(TTN):c.39230T>C (p.Val13077Ala) rs398124449
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457
NM_001267550.2(TTN):c.39368C>T (p.Ala13123Val) rs761828404
NM_001267550.2(TTN):c.39375A>G (p.Pro13125=) rs566794300
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064
NM_001267550.2(TTN):c.39473T>C (p.Val13158Ala) rs1553769611
NM_001267550.2(TTN):c.39548-8A>G rs369594816
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=) rs398124450
NM_001267550.2(TTN):c.39885G>A (p.Pro13295=) rs756518824
NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met) rs766145596
NM_001267550.2(TTN):c.40408+3dup rs727504922
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202
NM_001267550.2(TTN):c.40557C>T (p.Ser13519=) rs371178429
NM_001267550.2(TTN):c.40558G>A (p.Val13520Ile) rs587780488
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=) rs775954427
NM_001267550.2(TTN):c.40595T>C (p.Val13532Ala) rs756446770
NM_001267550.2(TTN):c.40788A>G (p.Glu13596=) rs886042511
NM_001267550.2(TTN):c.41019G>A (p.Pro13673=) rs762470432
NM_001267550.2(TTN):c.41330-7T>A rs373636988
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile) rs149059189
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) rs375474669
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=) rs756282138
NM_001267550.2(TTN):c.41812A>G (p.Met13938Val) rs201725483
NM_001267550.2(TTN):c.41920G>A (p.Val13974Ile) rs373881831
NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr) rs531590921
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299
NM_001267550.2(TTN):c.42672G>T (p.Leu14224=) rs368155350
NM_001267550.2(TTN):c.42892G>A (p.Glu14298Lys) rs778634417
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp) rs139636676
NM_001267550.2(TTN):c.43161G>A (p.Glu14387=) rs765214404
NM_001267550.2(TTN):c.43417G>C (p.Asp14473His) rs397517573
NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser) rs115825044
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) rs374085402
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778
NM_001267550.2(TTN):c.43748-7C>T rs771927358
NM_001267550.2(TTN):c.43836A>G (p.Ala14612=) rs755492644
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601
NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu) rs201390600
NM_001267550.2(TTN):c.43G>A (p.Val15Ile) rs201857541
NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln) rs369709751
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys) rs200445568
NM_001267550.2(TTN):c.44112C>T (p.His14704=) rs754693395
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His) rs373298007
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.44418C>T (p.Ser14806=) rs368005198
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=) rs369800903
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg) rs144848584
NM_001267550.2(TTN):c.44790G>A (p.Lys14930=) rs886042667
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile) rs183245562
NM_001267550.2(TTN):c.45748A>T (p.Ser15250Cys) rs776190494
NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe) rs72677226
NM_001267550.2(TTN):c.4641G>T (p.Val1547=) rs1012929202
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) rs72677229
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser) rs397517588
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871
NM_001267550.2(TTN):c.47129G>A (p.Arg15710His) rs185689179
NM_001267550.2(TTN):c.47217C>T (p.Gly15739=) rs373305832
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194
NM_001267550.2(TTN):c.47598A>G (p.Leu15866=) rs879099244
NM_001267550.2(TTN):c.47766C>T (p.Thr15922=) rs757006832
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly) rs376273101
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys) rs2303830
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=) rs202141158
NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys) rs748917057
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243
NM_001267550.2(TTN):c.48960T>C (p.Asp16320=) rs1057523898
NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr) rs200121902
NM_001267550.2(TTN):c.49395C>T (p.Asp16465=) rs749308557
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His) rs72677245
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100
NM_001267550.2(TTN):c.49527A>G (p.Thr16509=) rs727505248
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=) rs72677247
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671
NM_001267550.2(TTN):c.50059A>G (p.Ile16687Val) rs727504194
NM_001267550.2(TTN):c.5022C>G (p.Ala1674=) rs753444772
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=) rs374672630
NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys) rs397517600
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817
NM_001267550.2(TTN):c.50858-3C>T rs587782987
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668
NM_001267550.2(TTN):c.52004G>A (p.Arg17335His) rs367603302
NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile) rs567781604
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln) rs370390570
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly) rs397517607
NM_001267550.2(TTN):c.52242C>T (p.Pro17414=) rs765216874
NM_001267550.2(TTN):c.52290T>C (p.Tyr17430=) rs990974705
NM_001267550.2(TTN):c.52317A>G (p.Lys17439=) rs370450339
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His) rs376080116
NM_001267550.2(TTN):c.52374T>C (p.Val17458=) rs752571545
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557
NM_001267550.2(TTN):c.5255G>A (p.Arg1752His) rs150737838
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=) rs374228930
NM_001267550.2(TTN):c.52920C>T (p.Tyr17640=) rs1553687219
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile) rs200387466
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) rs185913848
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=) rs373316165
NM_001267550.2(TTN):c.53185C>T (p.Leu17729=) rs767559716
NM_001267550.2(TTN):c.53295T>C (p.Pro17765=) rs771792080
NM_001267550.2(TTN):c.53443A>G (p.Ile17815Val) rs368065637
NM_001267550.2(TTN):c.53625A>G (p.Thr17875=) rs373277508
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=) rs727503693
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro) rs369678018
NM_001267550.2(TTN):c.54054G>A (p.Lys18018=) rs761146363
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln) rs727503603
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=) rs372686070
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) rs368021072
NM_001267550.2(TTN):c.54360T>C (p.Thr18120=) rs749248039
NM_001267550.2(TTN):c.54477C>G (p.Val18159=) rs374335905
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu) rs201581947
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr) rs200585270
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991
NM_001267550.2(TTN):c.54811+10C>T rs796651993
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu) rs201035511
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=) rs200410212
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu) rs192788942
NM_001267550.2(TTN):c.55290C>T (p.Pro18430=) rs777904054
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg) rs200550947
NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly) rs72646822
NM_001267550.2(TTN):c.55503G>A (p.Lys18501=) rs879239475
NM_001267550.2(TTN):c.55659G>A (p.Val18553=) rs368450420
NM_001267550.2(TTN):c.55692T>A (p.Pro18564=) rs200864020
NM_001267550.2(TTN):c.55809G>A (p.Pro18603=) rs750472100
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512
NM_001267550.2(TTN):c.55986C>T (p.Val18662=) rs747136342
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=) rs183047238
NM_001267550.2(TTN):c.56118C>T (p.Ala18706=) rs1559671858
NM_001267550.2(TTN):c.56256G>A (p.Pro18752=) rs111262307
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His) rs771284532
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=) rs553313488
NM_001267550.2(TTN):c.56456A>G (p.Asn18819Ser) rs201337786
NM_001267550.2(TTN):c.56535G>A (p.Thr18845=) rs529480368
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) rs370629962
NM_001267550.2(TTN):c.56850G>A (p.Val18950=) rs368068200
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206
NM_001267550.2(TTN):c.57263-4C>T rs373552048
NM_001267550.2(TTN):c.5739C>T (p.Thr1913=) rs530291008
NM_001267550.2(TTN):c.5740G>A (p.Ala1914Thr) rs118161093
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val) rs374203813
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile) rs200778464
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464
NM_001267550.2(TTN):c.57544+7dup rs750881309
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val) rs374058726
NM_001267550.2(TTN):c.57682C>T (p.Arg19228Cys) rs757820671
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) rs369440319
NM_001267550.2(TTN):c.58008T>C (p.Asn19336=) rs770525693
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met) rs373527448
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=) rs370091658
NM_001267550.2(TTN):c.58205A>G (p.Glu19402Gly) rs886042539
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) rs201505306
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) rs377682563
NM_001267550.2(TTN):c.58653T>C (p.Ile19551=) rs727504980
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) rs771898264
NM_001267550.2(TTN):c.58841T>C (p.Ile19614Thr) rs199933004
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp) rs200728232
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser) rs200732032
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) rs377180286
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly) rs371719028
NM_001267550.2(TTN):c.59344+3G>A rs142095604
NM_001267550.2(TTN):c.597A>G (p.Val199=) rs144214844
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=) rs727505101
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His) rs756091180
NM_001267550.2(TTN):c.60654G>A (p.Thr20218=) rs776141268
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753
NM_001267550.2(TTN):c.61355T>A (p.Ile20452Asn) rs375946418
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln) rs727504191
NM_001267550.2(TTN):c.61962C>T (p.Ile20654=) rs369710636
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr) rs558670891
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp) rs151193056
NM_001267550.2(TTN):c.62280T>C (p.Val20760=) rs372065796
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met) rs375173874
NM_001267550.2(TTN):c.62424C>T (p.Asp20808=) rs374472044
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly) rs72646849
NM_001267550.2(TTN):c.62468G>A (p.Arg20823His) rs758019778
NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln) rs201693851
NM_001267550.2(TTN):c.62547G>A (p.Thr20849=) rs368969893
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) rs374168580
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys) rs374727686
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys) rs376800688
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855
NM_001267550.2(TTN):c.63775G>A (p.Val21259Ile) rs371286595
NM_001267550.2(TTN):c.63960T>A (p.Val21320=) rs397517655
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=) rs397517657
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) rs371514555
NM_001267550.2(TTN):c.64673-5T>C rs530496528
NM_001267550.2(TTN):c.64683C>G (p.Gly21561=) rs542156552
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln) rs188996850
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile) rs368716894
NM_001267550.2(TTN):c.65276-8T>C rs377484398
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=) rs746956869
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023
NM_001267550.2(TTN):c.65514C>T (p.Thr21838=) rs372543748
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134
NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe) rs374736305
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys) rs199643269
NM_001267550.2(TTN):c.66288A>G (p.Glu22096=) rs368297582
NM_001267550.2(TTN):c.66385C>T (p.Arg22129Cys) rs763729258
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) rs183276016
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln) rs374656017
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) rs72646870
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile) rs751354601
NM_001267550.2(TTN):c.6690C>T (p.Phe2230=) rs755122338
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr) rs397517667
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn) rs375676529
NM_001267550.2(TTN):c.67637-4A>G rs376053678
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) rs72646877
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu) rs727505352
NM_001267550.2(TTN):c.68208T>A (p.Val22736=) rs727503575
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu) rs145649088
NM_001267550.2(TTN):c.68604C>T (p.Asp22868=) rs750368181
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676
NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val) rs771710562
NM_001267550.2(TTN):c.69639T>C (p.Arg23213=) rs1487392148
NM_001267550.2(TTN):c.69660A>G (p.Ala23220=) rs371996901
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met) rs368867993
NM_001267550.2(TTN):c.69876A>C (p.Thr23292=) rs1267766480
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile) rs190421400
NM_001267550.2(TTN):c.69984G>A (p.Ala23328=) rs56052239
NM_001267550.2(TTN):c.70056A>G (p.Arg23352=) rs75948012
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala) rs372782502
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828
NM_001267550.2(TTN):c.70137C>A (p.Thr23379=) rs770349910
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=) rs587780986
NM_001267550.2(TTN):c.70260G>A (p.Pro23420=) rs72646887
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=) rs372382315
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=) rs377220635
NM_001267550.2(TTN):c.70864G>A (p.Val23622Ile) rs72646892
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr) rs371818894
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=) rs56245285
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=) rs374509926
NM_001267550.2(TTN):c.71832A>C (p.Lys23944Asn) rs1449315408
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn) rs56019808
NM_001267550.2(TTN):c.71903A>C (p.Asn23968Thr) rs769320596
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr) rs180828370
NM_001267550.2(TTN):c.72114G>A (p.Thr24038=) rs768064912
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val) rs201482015
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr) rs200471370
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe) rs372309164
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys) rs149763294
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412
NM_001267550.2(TTN):c.72723C>G (p.Val24241=) rs372701206
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) rs187868672
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile) rs199860952
NM_001267550.2(TTN):c.73224G>A (p.Gly24408=) rs371034493
NM_001267550.2(TTN):c.732C>T (p.Ala244=) rs761859812
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) rs377334665
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met) rs779064962
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=) rs565784637
NM_001267550.2(TTN):c.74331C>T (p.Asp24777=) rs368530092
NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala) rs200723435
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala) rs199784966
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898
NM_001267550.2(TTN):c.74763C>T (p.Ser24921=) rs371563258
NM_001267550.2(TTN):c.74844G>A (p.Lys24948=) rs371884545
NM_001267550.2(TTN):c.75099C>T (p.Asp25033=) rs370272814
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027
NM_001267550.2(TTN):c.7524T>C (p.His2508=) rs2291307
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val) rs199508062
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg) rs375204371
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His) rs375693396
NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile) rs370070176
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser) rs377226540
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp) rs200287703
NM_001267550.2(TTN):c.76296T>C (p.Asp25432=) rs868081432
NM_001267550.2(TTN):c.76482C>T (p.Asp25494=) rs370908118
NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser) rs181166140
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn) rs143186270
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=) rs370810609
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=) rs372543652
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118
NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys) rs149660690
NM_001267550.2(TTN):c.77166T>C (p.Pro25722=) rs757252494
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) rs56391938
NM_001267550.2(TTN):c.77706C>T (p.Asp25902=) rs375764395
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835
NM_001267550.2(TTN):c.77907C>T (p.Asn25969=) rs375903820
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=) rs368270588
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp) rs73036377
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His) rs764254441
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser) rs776256093
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=) rs201837864
NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln) rs201091376
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro) rs201091376
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201
NM_001267550.2(TTN):c.80527T>C (p.Leu26843=) rs142004835
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=) rs189790119
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys) rs185887755
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050
NM_001267550.2(TTN):c.81393A>G (p.Lys27131=) rs374501251
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189
NM_001267550.2(TTN):c.81737T>C (p.Ile27246Thr) rs367603381
NM_001267550.2(TTN):c.8184C>G (p.Val2728=) rs753356474
NM_001267550.2(TTN):c.8184C>T (p.Val2728=) rs753356474
NM_001267550.2(TTN):c.81850G>A (p.Val27284Ile) rs746222222
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) rs200697681
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) rs55634791
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr) rs72648215
NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr) rs769343491
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr) rs184643087
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) rs376820301
NM_001267550.2(TTN):c.83580G>A (p.Val27860=) rs200096597
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) rs200775919
NM_001267550.2(TTN):c.83733C>T (p.Ser27911=) rs375442124
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580
NM_001267550.2(TTN):c.84157C>T (p.Leu28053Phe) rs1194981313
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn) rs200450022
NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu) rs146636599
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val) rs72648221
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr) rs397517731
NM_001267550.2(TTN):c.85389C>T (p.Leu28463=) rs144731702
NM_001267550.2(TTN):c.85443A>G (p.Ala28481=) rs373326137
NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys) rs201688358
NM_001267550.2(TTN):c.85953A>G (p.Leu28651=) rs546573613
NM_001267550.2(TTN):c.86025G>A (p.Pro28675=) rs369528150
NM_001267550.2(TTN):c.86045C>T (p.Pro28682Leu) rs760467197
NM_001267550.2(TTN):c.86085C>T (p.Asp28695=) rs773001228
NM_001267550.2(TTN):c.86355T>C (p.Asn28785=) rs745857020
NM_001267550.2(TTN):c.86526T>G (p.Val28842=) rs72648226
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=) rs727504793
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=) rs397517736
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) rs201687390
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=) rs369444690
NM_001267550.2(TTN):c.87495C>T (p.Asp29165=) rs371763584
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg) rs72648228
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe) rs201831707
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=) rs72648230
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His) rs202001776
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His) rs73036368
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser) rs183013408
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met) rs200899806
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His) rs111727915
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877
NM_001267550.2(TTN):c.88983C>T (p.Gly29661=) rs371678936
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser) rs187460377
NM_001267550.2(TTN):c.8902+14T>A rs13388274
NM_001267550.2(TTN):c.89295T>C (p.Ala29765=) rs375374658
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238
NM_001267550.2(TTN):c.89457A>G (p.Gly29819=) rs1553542686
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp) rs747181293
NM_001267550.2(TTN):c.89906T>C (p.Val29969Ala) rs201220828
NM_001267550.2(TTN):c.89946C>T (p.Val29982=) rs373311459
NM_001267550.2(TTN):c.89984T>C (p.Ile29995Thr) rs754676727
NM_001267550.2(TTN):c.90332T>C (p.Leu30111Pro) rs368516973
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser) rs373722546
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del) rs748912340
NM_001267550.2(TTN):c.90786C>T (p.Ile30262=) rs727504439
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp) rs200022152
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser) rs75022916
NM_001267550.2(TTN):c.91224C>T (p.Ser30408=) rs1057522835
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=) rs374094732
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=) rs145133144
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val) rs182549226
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=) rs886044458
NM_001267550.2(TTN):c.91884A>G (p.Arg30628=) rs144922355
NM_001267550.2(TTN):c.918C>T (p.Ser306=) rs773898647
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr) rs373099440
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) rs397517756
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500
NM_001267550.2(TTN):c.92871T>C (p.Ala30957=) rs748822553
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448
NM_001267550.2(TTN):c.93129C>T (p.Asp31043=) rs758336721
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys) rs368932767
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His) rs141817409
NM_001267550.2(TTN):c.93255G>A (p.Pro31085=) rs372611171
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu) rs202096200
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His) rs72648251
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837
NM_001267550.2(TTN):c.93972A>G (p.Glu31324=) rs727504528
NM_001267550.2(TTN):c.93981C>G (p.Val31327=) rs370894846
NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys) rs541040798
NM_001267550.2(TTN):c.94590A>G (p.Pro31530=) rs558347312
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252
NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys) rs202187398
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser) rs886042885
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His) rs149755500
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=) rs373509153
NM_001267550.2(TTN):c.95130C>A (p.Gly31710=) rs727504857
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263
NM_001267550.2(TTN):c.95961C>T (p.Ala31987=) rs369405564
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=) rs183620684
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=) rs368154623
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064
NM_001267550.2(TTN):c.96225T>A (p.Val32075=) rs752745266
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133
NM_001267550.2(TTN):c.9639C>T (p.Ser3213=) rs760666570
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=) rs368423941
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) rs202011992
NM_001267550.2(TTN):c.96883G>A (p.Val32295Met) rs199532781
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096
NM_001267550.2(TTN):c.97294C>T (p.Leu32432=) rs72648267
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) rs184922462
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys) rs377599569
NM_001267550.2(TTN):c.97947G>C (p.Lys32649Asn) rs773776767
NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly) rs377049518
NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys) rs199761901
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=) rs373853269
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg) rs200052398
NM_001267550.2(TTN):c.98606G>A (p.Arg32869His) rs587780495
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582
NM_001267550.2(TTN):c.98685T>C (p.Asn32895=) rs752093604
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile) rs182683829
NM_001267550.2(TTN):c.98721C>T (p.Leu32907=) rs375361462
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala) rs368877793
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu) rs190967471
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) rs186405108
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672
NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile) rs375533809
NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr) rs560306385
NM_001267550.2(TTN):c.99567C>T (p.Leu33189=) rs745708104
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu) rs140025425
NM_001267550.2(TTN):c.99840T>C (p.Asp33280=) rs375178211
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278
NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr) rs374295768
NM_001267550.2(TTN):c.99990A>G (p.Lys33330=) rs749702063
NM_001271208.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072
NM_001271208.2(NEB):c.10434T>C (p.Asn3478=) rs375543045
NM_001271208.2(NEB):c.1206C>T (p.Cys402=) rs199695976
NM_001271208.2(NEB):c.12C>T (p.Asp4=) rs117178114
NM_001271208.2(NEB):c.15237A>G (p.Leu5079=) rs1057522592
NM_001271208.2(NEB):c.153_167dup (p.52_56LAQPA[3]) rs757726895
NM_001271208.2(NEB):c.15445A>T (p.Ser5149Cys) rs1057521769
NM_001271208.2(NEB):c.19626T>C (p.Asp6542=) rs190336010
NM_001271208.2(NEB):c.21790G>C (p.Asp7264His) rs201979610
NM_001271208.2(NEB):c.2283C>T (p.Ala761=) rs373946448
NM_001271208.2(NEB):c.22983C>A (p.Ala7661=) rs185574478
NM_001271208.2(NEB):c.23118C>T (p.Ser7706=) rs370873040
NM_001271208.2(NEB):c.23372T>C (p.Met7791Thr) rs201767727
NM_001271208.2(NEB):c.23383A>G (p.Asn7795Asp) rs201189784
NM_001271208.2(NEB):c.24625G>A (p.Ala8209Thr) rs199937246
NM_001271208.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595
NM_001271208.2(NEB):c.25140C>T (p.Asp8380=) rs201825451
NM_001271208.2(NEB):c.25143A>G (p.Gln8381=) rs184319249
NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.2(NEB):c.25568A>G (p.Lys8523Arg) rs201714437
NM_001271208.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958
NM_001271208.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287
NM_001271208.2(NEB):c.4272G>C (p.Thr1424=) rs35654397
NM_001271208.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120
NM_001271208.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_001271208.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007
NM_001271208.2(NEB):c.539A>G (p.Lys180Arg) rs200719359
NM_001271208.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374
NM_001271208.2(NEB):c.5971-12dup rs551520922
NM_001271208.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602
NM_001276345.2(TNNT2):c.41+16A>G rs370729174
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=) rs376923877
NM_001277115.2(DNAH11):c.11691-20dup rs5882827
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu) rs142585703
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=) rs150682314
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=) rs191266255
NM_001277115.2(DNAH11):c.2682C>T (p.Leu894=) rs149926178
NM_001277269.1(OTOG):c.4871G>A (p.Arg1624His) rs189248390
NM_001277269.1(OTOG):c.6703G>A (p.Val2235Met) rs572886375
NM_001277269.1(OTOG):c.6929G>A (p.Arg2310His) rs142799217
NM_001277269.1(OTOG):c.7546G>A (p.Ala2516Thr) rs548278514
NM_001277269.1(OTOG):c.8031C>T (p.Cys2677=) rs200809116
NM_001277269.1(OTOG):c.973C>A (p.Pro325Thr) rs777809121
NM_001277313.2(FMN1):c.2044-1493G>T rs201555719
NM_001277313.2(FMN1):c.3974A>G (p.Gln1325Arg) rs147769257
NM_001278074.1(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_001278074.1(COL5A1):c.1752G>A (p.Glu584=) rs376865199
NM_001278074.1(COL5A1):c.1896C>T (p.Phe632=) rs376478864
NM_001278074.1(COL5A1):c.2593-3C>T rs199895142
NM_001278074.1(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_001278074.1(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150
NM_001278074.1(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_001278074.1(COL5A1):c.804C>T (p.Gly268=) rs147729713
NM_001278074.1(COL5A1):c.805G>A (p.Glu269Lys) rs761079177
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=) rs200768501
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met) rs398123360
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) rs199592861
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT rs398123361
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) rs149309725
NM_001278182.2(EOMES):c.436C>T (p.Leu146Phe) rs200215171
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr) rs200625964
NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala) rs373913240
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup) rs398124607
NM_001291867.2(NHS):c.513C>T (p.Leu171=) rs398124610
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) rs192843629
NM_001297.5(CNGB1):c.2370-9C>T rs374373659
NM_001297.5(CNGB1):c.291-5C>T rs372308762
NM_001297.5(CNGB1):c.838-4G>T rs375539469
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) rs146170855
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) rs116448158
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu) rs114108462
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) rs148616345
NM_001300895.2(CABP4):c.-197G>A rs767502632
NM_001300895.2(CABP4):c.-229G>A rs145789542
NM_001305581.2(LRMDA):c.132-253012del rs146123023
NM_001305581.2(LRMDA):c.193C>T (p.Leu65=) rs147768808
NM_001318510.2(ACSL4):c.806+3A>G rs183171123
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) rs55640811
NM_001330078.2(NRXN1):c.1320+10G>A rs113028018
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) rs201485014
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) rs201837579
NM_001330078.2(NRXN1):c.1843C>T (p.Leu615=) rs201029409
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) rs200074974
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) rs200182626
NM_001330078.2(NRXN1):c.3042C>T (p.Thr1014=) rs75137449
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642
NM_001330078.2(NRXN1):c.3071-10C>T rs398123573
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) rs200698497
NM_001330078.2(NRXN1):c.3165A>G (p.Ser1055=) rs1553656447
NM_001330078.2(NRXN1):c.3245-4G>T rs1057520338
NM_001330078.2(NRXN1):c.3489C>T (p.Ala1163=) rs147580960
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) rs55923848
NM_001330078.2(NRXN1):c.744C>T (p.Thr248=) rs202043138
NM_001330260.2(SCN8A):c.1677C>T (p.His559=) rs202212399
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1]) rs758276968
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=) rs146982102
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=) rs374452942
NM_001330260.2(SCN8A):c.270G>T (p.Thr90=) rs371712630
NM_001330260.2(SCN8A):c.3060G>A (p.Gln1020=) rs528718802
NM_001330260.2(SCN8A):c.3135C>T (p.Ile1045=) rs550579591
NM_001330260.2(SCN8A):c.402T>C (p.Phe134=) rs559668426
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662
NM_001330260.2(SCN8A):c.5366A>G (p.Tyr1789Cys) rs961205540
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=) rs185667241
NM_001330677.2(TBX15):c.1728A>G (p.Gln576=) rs200564235
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=) rs56375542
NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val) rs781988728
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=) rs373866956
NM_001354604.2(MITF):c.639C>T (p.Asn213=) rs137944487
NM_001354663.2(OPA1):c.-260_-243del rs863224140
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001354689.3(RAF1):c.1728+4A>G rs771344560
NM_001354689.3(RAF1):c.639T>C (p.Thr213=) rs397516823
NM_001360.2(DHCR7):c.1011C>T (p.Ala337=) rs369382960
NM_001360.2(DHCR7):c.1362G>A (p.Lys454=) rs147850435
NM_001360.2(DHCR7):c.1365C>T (p.Tyr455=) rs557097410
NM_001360.2(DHCR7):c.1368C>T (p.Gly456=) rs144562471
NM_001360.2(DHCR7):c.139C>T (p.Leu47=) rs140721259
NM_001360.2(DHCR7):c.1410G>A (p.Leu470=) rs375993195
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001360.2(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001360.2(DHCR7):c.927C>A (p.Gly309=) rs149974099
NM_001360016.2(G6PD):c.120+9C>T rs886044853
NM_001364905.1(LRBA):c.1713C>T (p.His571=) rs145812385
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371
NM_001365068.1(ASTN2):c.2806+26319C>T rs555217187
NM_001365068.1(ASTN2):c.2806+26895G>A rs776448126
NM_001365068.1(ASTN2):c.2806+27336T>G rs368455215
NM_001365068.1(ASTN2):c.2806+27528C>T rs200085883
NM_001365068.1(ASTN2):c.2806+27828A>G rs780799984
NM_001365068.1(ASTN2):c.2806+28023A>C rs141352486
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=) rs149640638
NM_001365276.2(TNXB):c.1259T>C (p.Val420Ala) rs200226242
NM_001365536.1(SCN9A):c.1177C>T (p.Leu393=) rs184773311
NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=) rs200065104
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458
NM_001365536.1(SCN9A):c.1975-8T>A rs752961542
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=) rs199653503
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=) rs201430964
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186
NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=) rs111674454
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) rs144941725
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) rs187558439
NM_001365536.1(SCN9A):c.4941C>T (p.Ile1647=) rs747837371
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg) rs144494437
NM_001367624.1(ZNF469):c.10700G>A (p.Gly3567Glu) rs199610834
NM_001367624.1(ZNF469):c.1088C>T (p.Ser363Leu) rs771000169
NM_001367624.1(ZNF469):c.11277C>T (p.Ser3759=) rs372634401
NM_001367624.1(ZNF469):c.1483C>T (p.Pro495Ser) rs202205643
NM_001367624.1(ZNF469):c.1609G>A (p.Val537Met) rs184458982
NM_001367624.1(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639
NM_001367624.1(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726
NM_001367624.1(ZNF469):c.2297G>A (p.Arg766Gln) rs144492145
NM_001367624.1(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481
NM_001367624.1(ZNF469):c.2841G>A (p.Arg947=) rs150435442
NM_001367624.1(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076
NM_001367624.1(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001367624.1(ZNF469):c.5340C>G (p.Pro1780=) rs184374078
NM_001367624.1(ZNF469):c.7267C>A (p.Pro2423Thr) rs199727372
NM_001367624.1(ZNF469):c.9516C>T (p.Ala3172=) rs577913880
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) rs137852820
NM_001367721.1(CASK):c.1215A>G (p.Ala405=) rs1555989329
NM_001367721.1(CASK):c.1224A>G (p.Arg408=) rs1555989321
NM_001367721.1(CASK):c.1315-10A>G rs375004542
NM_001367721.1(CASK):c.1419A>G (p.Pro473=) rs764194945
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys) rs76106850
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936
NM_001367721.1(CASK):c.356+6T>C rs200402760
NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=) rs41303149
NM_001369.2(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391
NM_001369268.1(ACAN):c.2261T>C (p.Leu754Pro) rs577419060
NM_001369268.1(ACAN):c.7092G>A (p.Lys2364=) rs368979713
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile) rs150555123
NM_001369268.1(ACAN):c.894C>T (p.Ser298=) rs576947078
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001374258.1(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) rs200076785
NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu) rs372925840
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg) rs563818052
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=) rs200499325
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453
NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=) rs749647281
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=) rs35546990
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile) rs189100009
NM_001377.3(DYNC2H1):c.12006C>T (p.Ile4002=) rs775505863
NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu) rs142920070
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe) rs201563576
NM_001377.3(DYNC2H1):c.7149G>A (p.Thr2383=) rs553516014
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val) rs202071528
NM_001377.3(DYNC2H1):c.999+7A>G rs766672853
NM_001384140.1(PCDH15):c.4368-2251CCT[3] rs397517462
NM_001385.3(DPYS):c.1506del (p.Arg503fs) rs79080341
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157
NM_001453.3(FOXC1):c.171G>C (p.Pro57=) rs188085399
NM_001453.3(FOXC1):c.597C>G (p.Arg199=) rs529227054
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=) rs77934864
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=) rs143566075
NM_001457.4(FLNB):c.4307G>A (p.Arg1436Gln) rs140018418
NM_001457.4(FLNB):c.6000T>C (p.Gly2000=) rs140926445
NM_001457.4(FLNB):c.6003C>T (p.Asp2001=) rs184065600
NM_001457.4(FLNB):c.6047G>A (p.Arg2016Gln) rs137885421
NM_001457.4(FLNB):c.6154C>T (p.Leu2052=) rs372726521
NM_001457.4(FLNB):c.6173A>G (p.Lys2058Arg) rs141698427
NM_001457.4(FLNB):c.7254C>T (p.Ser2418=) rs563382903
NM_001458.4(FLNC):c.1813+11G>T rs138716837
NM_001458.4(FLNC):c.2130C>T (p.Asp710=) rs778781499
NM_001458.4(FLNC):c.2390-8C>G rs146063718
NM_001458.4(FLNC):c.3054C>T (p.Gly1018=) rs769624093
NM_001458.4(FLNC):c.4022G>A (p.Arg1341Gln) rs149641783
NM_001458.4(FLNC):c.6441C>T (p.Ile2147=) rs762017885
NM_001458.4(FLNC):c.6998-5C>T rs139030003
NM_001458.4(FLNC):c.7862G>A (p.Arg2621Gln) rs201636548
NM_001458.4(FLNC):c.8003T>C (p.Met2668Thr) rs200502811
NM_001482.3(GATM):c.692C>G (p.Ser231Cys) rs202225656
NM_001499.2(GLE1):c.1393T>A (p.Ser465Thr) rs141709685
NM_001499.2(GLE1):c.823G>A (p.Asp275Asn) rs146800850
NM_001605.2(AARS1):c.1275T>C (p.Thr425=) rs750552137
NM_001605.2(AARS1):c.2521-3C>T rs200586605
NM_001605.2(AARS1):c.600C>T (p.Ala200=) rs150080663
NM_001614.5(ACTG1):c.825C>T (p.His275=) rs145303691
NM_001692.4(ATP6V1B1):c.1276G>A (p.Val426Met) rs531239712
NM_001692.4(ATP6V1B1):c.669C>T (p.Ile223=) rs372233648
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001701.4(BAAT):c.165C>T (p.Phe55=) rs377631387
NM_001715.3(BLK):c.674C>T (p.Pro225Leu) rs144592409
NM_001793.6(CDH3):c.1011G>C (p.Val337=) rs201726457
NM_001793.6(CDH3):c.1443C>T (p.Asp481=) rs144403828
NM_001793.6(CDH3):c.1681G>A (p.Val561Met) rs151198926
NM_001793.6(CDH3):c.1704G>A (p.Thr568=) rs561193756
NM_001793.6(CDH3):c.1785C>T (p.Val595=) rs376302917
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln) rs758614807
NM_001793.6(CDH3):c.2364C>T (p.Asp788=) rs144637479
NM_001793.6(CDH3):c.2475C>T (p.Gly825=) rs543214840
NM_001793.6(CDH3):c.918C>T (p.Asp306=) rs201521473
NM_001844.5(COL2A1):c.1068G>A (p.Pro356=) rs147202936
NM_001844.5(COL2A1):c.1077C>T (p.Val359=) rs202002349
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=) rs371835359
NM_001844.5(COL2A1):c.2307C>T (p.Asp769=) rs145023922
NM_001844.5(COL2A1):c.2410-7C>T rs767041085
NM_001844.5(COL2A1):c.2680-9C>T rs369022247
NM_001844.5(COL2A1):c.3699C>T (p.Pro1233=) rs141944722
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) rs139114389
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys) rs781229123
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=) rs367625071
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416
NM_001844.5(COL2A1):c.4290G>A (p.Thr1430=) rs554488169
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=) rs201223454
NM_001844.5(COL2A1):c.798G>A (p.Arg266=) rs376753701
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612
NM_001848.2(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158
NM_001848.2(COL6A1):c.1350G>A (p.Pro450=) rs144887329
NM_001848.2(COL6A1):c.1398+10G>A rs143438559
NM_001848.2(COL6A1):c.1399-3C>T rs200095847
NM_001848.2(COL6A1):c.1399-8C>G rs749529856
NM_001848.2(COL6A1):c.1525-9C>T rs768508076
NM_001848.2(COL6A1):c.1554C>T (p.Thr518=) rs9637170
NM_001848.2(COL6A1):c.1584G>A (p.Pro528=) rs139243418
NM_001848.2(COL6A1):c.1602C>T (p.Pro534=) rs143755280
NM_001848.2(COL6A1):c.1665C>T (p.Pro555=) rs369802454
NM_001848.2(COL6A1):c.1671C>T (p.Asp557=) rs770099663
NM_001848.2(COL6A1):c.1782C>T (p.Cys594=) rs745847824
NM_001848.2(COL6A1):c.1911C>T (p.Phe637=) rs552239546
NM_001848.2(COL6A1):c.1959C>T (p.Phe653=) rs112104768
NM_001848.2(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954
NM_001848.2(COL6A1):c.2109G>A (p.Thr703=) rs760649238
NM_001848.2(COL6A1):c.2148G>A (p.Pro716=) rs780032842
NM_001848.2(COL6A1):c.2187C>T (p.Asp729=) rs369502543
NM_001848.2(COL6A1):c.2220G>T (p.Pro740=) rs138976133
NM_001848.2(COL6A1):c.2418C>T (p.Thr806=) rs760768642
NM_001848.2(COL6A1):c.2464+9C>T rs368651226
NM_001848.2(COL6A1):c.2601C>T (p.Pro867=) rs200124802
NM_001848.2(COL6A1):c.2610C>T (p.Asp870=) rs759989949
NM_001848.2(COL6A1):c.261C>T (p.Asn87=) rs770671793
NM_001848.2(COL6A1):c.2670G>A (p.Ser890=) rs527265374
NM_001848.2(COL6A1):c.2709C>T (p.Ala903=) rs139018148
NM_001848.2(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120
NM_001848.2(COL6A1):c.2856C>T (p.Pro952=) rs140427635
NM_001848.2(COL6A1):c.348C>T (p.Ser116=) rs189444981
NM_001848.2(COL6A1):c.381C>T (p.Thr127=) rs75180385
NM_001848.2(COL6A1):c.423C>T (p.Leu141=) rs373486149
NM_001848.2(COL6A1):c.519G>A (p.Glu173=) rs146071423
NM_001848.2(COL6A1):c.531C>T (p.Asn177=) rs767176038
NM_001848.2(COL6A1):c.588+8C>G rs398123638
NM_001848.2(COL6A1):c.609C>T (p.Ile203=) rs369590506
NM_001848.2(COL6A1):c.624G>A (p.Thr208=) rs573282005
NM_001848.2(COL6A1):c.666C>T (p.Arg222=) rs372581026
NM_001848.2(COL6A1):c.696C>T (p.Ile232=) rs139148709
NM_001848.2(COL6A1):c.859-18T>A rs398123641
NM_001848.2(COL6A1):c.993C>T (p.Asp331=) rs373948031
NM_001849.3(COL6A2):c.*5G>A rs377195134
NM_001849.3(COL6A2):c.1095G>A (p.Glu365=) rs374673302
NM_001849.3(COL6A2):c.1117-9C>T rs1057523383
NM_001849.3(COL6A2):c.115+6del rs578127995
NM_001849.3(COL6A2):c.123C>T (p.Thr41=) rs766840536
NM_001849.3(COL6A2):c.1333-10C>G rs199513044
NM_001849.3(COL6A2):c.1359C>T (p.Arg453=) rs750842859
NM_001849.3(COL6A2):c.1437T>C (p.Ala479=) rs149077114
NM_001849.3(COL6A2):c.1720G>C (p.Val574Leu) rs142021066
NM_001849.3(COL6A2):c.1761C>T (p.Pro587=) rs146311719
NM_001849.3(COL6A2):c.1779C>T (p.Asp593=) rs139571947
NM_001849.3(COL6A2):c.1817-8C>A rs750444649
NM_001849.3(COL6A2):c.189G>A (p.Thr63=) rs143583433
NM_001849.3(COL6A2):c.2031C>T (p.Asp677=) rs759646708
NM_001849.3(COL6A2):c.219C>T (p.Phe73=) rs374336669
NM_001849.3(COL6A2):c.2217C>T (p.Asp739=) rs374795477
NM_001849.3(COL6A2):c.2241G>A (p.Leu747=) rs398123649
NM_001849.3(COL6A2):c.225G>T (p.Pro75=) rs143678454
NM_001849.3(COL6A2):c.2301C>T (p.His767=) rs138371054
NM_001849.3(COL6A2):c.2361G>A (p.Thr787=) rs566966690
NM_001849.3(COL6A2):c.2422+7G>A rs773282809
NM_001849.3(COL6A2):c.2422+7G>T rs773282809
NM_001849.3(COL6A2):c.2517C>T (p.Asp839=) rs113002150
NM_001849.3(COL6A2):c.2565C>T (p.Phe855=) rs774805224
NM_001849.3(COL6A2):c.2608G>A (p.Asp870Asn) rs145785230
NM_001849.3(COL6A2):c.2745G>A (p.Ser915=) rs144516266
NM_001849.3(COL6A2):c.2751G>T (p.Val917=) rs111341650
NM_001849.3(COL6A2):c.2841C>T (p.Leu947=) rs532522222
NM_001849.3(COL6A2):c.2883G>A (p.Ala961=) rs369756029
NM_001849.3(COL6A2):c.288C>T (p.Tyr96=) rs61735833
NM_001849.3(COL6A2):c.2904C>T (p.Asn968=) rs143569686
NM_001849.3(COL6A2):c.2937C>T (p.Asp979=) rs150716220
NM_001849.3(COL6A2):c.2961G>A (p.Thr987=) rs149845431
NM_001849.3(COL6A2):c.2968C>T (p.Leu990=) rs746012569
NM_001849.3(COL6A2):c.3018G>A (p.Ala1006=) rs61735832
NM_001849.3(COL6A2):c.3024C>T (p.Pro1008=) rs201635208
NM_001849.3(COL6A2):c.426G>A (p.Thr142=) rs149480738
NM_001849.3(COL6A2):c.459C>T (p.Thr153=) rs764014106
NM_001849.3(COL6A2):c.492C>T (p.His164=) rs140929054
NM_001849.3(COL6A2):c.567C>T (p.Ala189=) rs563505047
NM_001849.3(COL6A2):c.612C>T (p.Ile204=) rs773143298
NM_001849.3(COL6A2):c.648C>T (p.Tyr216=) rs150004111
NM_001849.3(COL6A2):c.759A>G (p.Glu253=) rs140404854
NM_001849.3(COL6A2):c.786C>G (p.Gly262=) rs145500808
NM_001849.3(COL6A2):c.84G>A (p.Pro28=) rs140890046
NM_001849.3(COL6A2):c.94G>A (p.Glu32Lys) rs547648292
NM_001849.3(COL6A2):c.987C>T (p.Thr329=) rs748215430
NM_001851.5(COL9A1):c.1130G>A (p.Arg377His) rs142328549
NM_001851.5(COL9A1):c.1342-11_1342-3del rs774856588
NM_001851.5(COL9A1):c.2240C>G (p.Pro747Arg) rs149459564
NM_001851.5(COL9A1):c.2585A>C (p.Asp862Ala) rs202176764
NM_001851.5(COL9A1):c.333C>T (p.Tyr111=) rs141047907
NM_001851.5(COL9A1):c.353G>A (p.Arg118Gln) rs143848379
NM_001851.5(COL9A1):c.462A>G (p.Val154=) rs150571620
NM_001851.5(COL9A1):c.56C>T (p.Pro19Leu) rs146700420
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=) rs138882727
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met) rs141556170
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=) rs148008235
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu) rs202094480
NM_001853.4(COL9A3):c.1602C>T (p.Ser534=) rs146578812
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=) rs550889206
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn) rs143663917
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161
NM_001854.4(COL11A1):c.2610+9T>C rs754222130
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583
NM_001909.5(CTSD):c.111G>A (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.267C>G (p.Pro89=) rs139154882