NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00364
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00283
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00279
|
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)
|
rs28931570
|
0.00137
|
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)
|
rs58331765
|
0.00136
|
NM_001807.6(CEL):c.2172del (p.Val725fs)
|
rs780419796
|
0.00115
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00108
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00102
|
NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)
|
rs139582106
|
0.00096
|
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00080
|
NM_000392.5(ABCC2):c.1967+1G>A
|
rs146405172
|
0.00073
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00065
|
NM_001384732.1(CPLANE1):c.8462-1G>C
|
rs151279194
|
0.00060
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00058
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00056
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
|
rs182018947
|
0.00048
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_001609.4(ACADSB):c.303+1G>A
|
rs147936696
|
0.00036
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00032
|
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)
|
rs142371860
|
0.00029
|
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)
|
rs113994012
|
0.00027
|
NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter)
|
rs137955225
|
0.00027
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00024
|
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)
|
rs200503833
|
0.00019
|
NM_000159.4(GCDH):c.572T>C (p.Met191Thr)
|
rs149120354
|
0.00018
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000550.3(TYRP1):c.1261+1G>A
|
rs140365820
|
0.00018
|
NM_000434.4(NEU1):c.649G>A (p.Val217Met)
|
rs28940583
|
0.00017
|
NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter)
|
rs201442213
|
0.00017
|
NM_001177316.2(SLC34A3):c.448+1G>A
|
rs150841256
|
0.00016
|
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys)
|
rs146802593
|
0.00016
|
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)
|
rs375315619
|
0.00013
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)
|
rs61752334
|
0.00011
|
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)
|
rs757052602
|
0.00011
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
NM_000153.4(GALC):c.195G>C (p.Gly65=)
|
rs886042057
|
0.00010
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00010
|
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly)
|
rs199501657
|
0.00010
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
NM_000494.4(COL17A1):c.3277+1G>A
|
rs199527325
|
0.00009
|
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys)
|
rs139805921
|
0.00009
|
NM_001558.4(IL10RA):c.170A>G (p.Tyr57Cys)
|
rs201643277
|
0.00009
|
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)
|
rs188824058
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_016239.4(MYO15A):c.6764+2T>A
|
rs763975867
|
0.00008
|
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)
|
rs137852989
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp)
|
rs970505762
|
0.00007
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00007
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00007
|
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys)
|
rs149107232
|
0.00006
|
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)
|
rs762991875
|
0.00006
|
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)
|
rs776280797
|
0.00006
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
0.00006
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)
|
rs150719105
|
0.00006
|
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)
|
rs121918014
|
0.00006
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
NM_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly)
|
rs140059558
|
0.00006
|
NM_014908.4(DOLK):c.165C>A (p.Tyr55Ter)
|
rs1366267146
|
0.00006
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)
|
rs144689354
|
0.00006
|
NM_138691.3(TMC1):c.1114G>A (p.Val372Met)
|
rs367924428
|
0.00006
|
NM_206933.4(USH2A):c.8682-9A>G
|
rs372347027
|
0.00006
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)
|
rs369784333
|
0.00005
|
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)
|
rs200503569
|
0.00005
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00005
|
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)
|
rs121909394
|
0.00005
|
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)
|
rs104894293
|
0.00005
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00005
|
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)
|
rs199806879
|
0.00004
|
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)
|
rs1057942
|
0.00004
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln)
|
rs199476391
|
0.00004
|
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)
|
rs574660186
|
0.00004
|
NM_001378609.3(OTOGL):c.3213+1G>A
|
rs370730786
|
0.00004
|
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter)
|
rs781939614
|
0.00004
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
NM_005989.4(AKR1D1):c.261+1G>T
|
rs201988060
|
0.00004
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)
|
rs781027702
|
0.00004
|
NM_000023.4(SGCA):c.307A>G (p.Ile103Val)
|
rs370819630
|
0.00003
|
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)
|
rs28940287
|
0.00003
|
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly)
|
rs886042895
|
0.00003
|
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)
|
rs557164942
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)
|
rs550562774
|
0.00003
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp)
|
rs777902199
|
0.00003
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)
|
rs761385192
|
0.00003
|
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly)
|
rs794727049
|
0.00003
|
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)
|
rs398123499
|
0.00003
|
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr)
|
rs121434304
|
0.00003
|
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)
|
rs141497053
|
0.00003
|
NM_001242957.3(MAK):c.156+2T>C
|
rs1201940872
|
0.00003
|
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)
|
rs143312232
|
0.00003
|
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)
|
rs886043807
|
0.00003
|
NM_080916.3(DGUOK):c.444-11C>G
|
rs536746349
|
0.00003
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)
|
rs757434857
|
0.00002
|
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val)
|
rs779901247
|
0.00002
|
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)
|
rs727503950
|
0.00002
|
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg)
|
rs794727896
|
0.00002
|
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)
|
rs758829443
|
0.00002
|
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)
|
rs765729815
|
0.00002
|
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)
|
rs200444084
|
0.00002
|
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)
|
rs754287486
|
0.00002
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)
|
rs769904764
|
0.00002
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)
|
rs397514369
|
0.00002
|
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg)
|
rs398123680
|
0.00002
|
NM_002693.3(POLG):c.2870C>T (p.Ala957Val)
|
rs753160398
|
0.00002
|
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)
|
rs267607054
|
0.00002
|
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)
|
rs386833844
|
0.00002
|
NM_004482.4(GALNT3):c.892del (p.Tyr298fs)
|
rs762936774
|
0.00002
|
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg)
|
rs121918375
|
0.00002
|
NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter)
|
rs753018563
|
0.00002
|
NM_015340.4(LARS2):c.556C>T (p.Gln186Ter)
|
rs1163473923
|
0.00002
|
NM_016356.5(DCDC2):c.942del (p.Gly315fs)
|
rs1554144869
|
0.00002
|
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter)
|
rs372751467
|
0.00002
|
NM_022445.4(TPK1):c.185+1G>A
|
rs747753388
|
0.00002
|
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)
|
rs1247934219
|
0.00002
|
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg)
|
rs200133991
|
0.00002
|
NM_031885.5(BBS2):c.118G>T (p.Val40Phe)
|
rs886043059
|
0.00002
|
NM_206933.4(USH2A):c.15520-1G>A
|
rs767265734
|
0.00002
|
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)
|
rs770273135
|
0.00001
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)
|
rs398123091
|
0.00001
|
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)
|
rs555785323
|
0.00001
|
NM_000048.4(ASL):c.978G>C (p.Gln326His)
|
rs764356037
|
0.00001
|
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg)
|
rs193922104
|
0.00001
|
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)
|
rs397507713
|
0.00001
|
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)
|
rs139836397
|
0.00001
|
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)
|
rs777483913
|
0.00001
|
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)
|
rs398123143
|
0.00001
|
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)
|
rs372438001
|
0.00001
|
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val)
|
rs886042557
|
0.00001
|
NM_000070.3(CAPN3):c.2440-3C>G
|
rs761757153
|
0.00001
|
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)
|
rs773001194
|
0.00001
|
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)
|
rs121434547
|
0.00001
|
NM_000081.4(LYST):c.7780+2C>T
|
rs760108842
|
0.00001
|
NM_000089.4(COL1A2):c.2656G>A (p.Gly886Ser)
|
rs886043796
|
0.00001
|
NM_000126.4(ETFA):c.2T>C (p.Met1Thr)
|
rs727503918
|
0.00001
|
NM_000128.4(F11):c.3G>T (p.Met1Ile)
|
rs755700350
|
0.00001
|
NM_000132.4(F8):c.1660A>G (p.Ser554Gly)
|
rs137852419
|
0.00001
|
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)
|
rs769039987
|
0.00001
|
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)
|
rs398123159
|
0.00001
|
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)
|
rs200004220
|
0.00001
|
NM_000143.4(FH):c.208G>A (p.Ala70Thr)
|
rs587782207
|
0.00001
|
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)
|
rs375867319
|
0.00001
|
NM_000155.4(GALT):c.1014C>G (p.Gly338=)
|
rs111033811
|
0.00001
|
NM_000155.4(GALT):c.396C>A (p.His132Gln)
|
rs367543256
|
0.00001
|
NM_000157.4(GBA1):c.431T>G (p.Leu144Arg)
|
rs794727708
|
0.00001
|
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp)
|
rs61750187
|
0.00001
|
NM_000181.4(GUSB):c.959A>C (p.Tyr320Ser)
|
rs886044680
|
0.00001
|
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)
|
rs794727896
|
0.00001
|
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
|
rs555514820
|
0.00001
|
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro)
|
rs368790885
|
0.00001
|
NM_000271.5(NPC1):c.1947+5G>C
|
rs770321568
|
0.00001
|
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)
|
rs758902805
|
0.00001
|
NM_000277.3(PAH):c.1199+17G>A
|
rs62508613
|
0.00001
|
NM_000282.4(PCCA):c.1747-3C>G
|
rs1555455109
|
0.00001
|
NM_000295.5(SERPINA1):c.646+1G>T
|
rs751235320
|
0.00001
|
NM_000310.4(PPT1):c.739T>C (p.Tyr247His)
|
rs386833665
|
0.00001
|
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)
|
rs575453437
|
0.00001
|
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)
|
rs62646860
|
0.00001
|
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro)
|
rs377311148
|
0.00001
|
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys)
|
rs371546950
|
0.00001
|
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu)
|
rs141677867
|
0.00001
|
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)
|
rs199590449
|
0.00001
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)
|
rs200750564
|
0.00001
|
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)
|
rs281865128
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)
|
rs1432807966
|
0.00001
|
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)
|
rs193922816
|
0.00001
|
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp)
|
rs398123475
|
0.00001
|
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)
|
rs398123486
|
0.00001
|
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)
|
rs398123515
|
0.00001
|
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter)
|
rs762813092
|
0.00001
|
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)
|
rs886042389
|
0.00001
|
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)
|
rs1553556116
|
0.00001
|
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)
|
rs398123802
|
0.00001
|
NM_001159773.2(CANT1):c.836-9G>A
|
rs538543007
|
0.00001
|
NM_001164508.2(NEB):c.18891+1G>A
|
rs1443738549
|
0.00001
|
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter)
|
rs727504184
|
0.00001
|
NM_001267550.2(TTN):c.104399del (p.Arg34800fs)
|
rs747662439
|
0.00001
|
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter)
|
rs750519430
|
0.00001
|
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)
|
rs886043924
|
0.00001
|
NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter)
|
rs72646828
|
0.00001
|
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter)
|
rs797044692
|
0.00001
|
NM_001267550.2(TTN):c.66160+2T>C
|
rs753146898
|
0.00001
|
NM_001267550.2(TTN):c.67348+1G>A
|
rs758279518
|
0.00001
|
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs)
|
rs757603460
|
0.00001
|
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)
|
rs794729289
|
0.00001
|
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter)
|
rs1419374180
|
0.00001
|
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter)
|
rs794729301
|
0.00001
|
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)
|
rs869320742
|
0.00001
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
NM_001289808.2(CRYAB):c.343del (p.Ser115fs)
|
rs281865142
|
0.00001
|
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg)
|
rs373306653
|
0.00001
|
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)
|
rs753960624
|
0.00001
|
NM_001363118.2(SLC52A2):c.1258G>A (p.Ala420Thr)
|
rs368924997
|
0.00001
|
NM_001369268.1(ACAN):c.1156C>T (p.Arg386Ter)
|
rs773948197
|
0.00001
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
0.00001
|
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)
|
rs397507175
|
0.00001
|
NM_001384474.1(LOXHD1):c.4989G>A (p.Trp1663Ter)
|
rs1223508098
|
0.00001
|
NM_001848.3(COL6A1):c.1666G>A (p.Gly556Arg)
|
rs886043521
|
0.00001
|
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg)
|
rs727503883
|
0.00001
|
NM_001851.6(COL9A1):c.1411C>T (p.Arg471Ter)
|
rs745532481
|
0.00001
|
NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser)
|
rs886043773
|
0.00001
|
NM_002693.3(POLG):c.3104+2T>A
|
rs747632869
|
0.00001
|
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile)
|
rs121918103
|
0.00001
|
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)
|
rs397507546
|
0.00001
|
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)
|
rs121908888
|
0.00001
|
NM_003119.4(SPG7):c.1A>G (p.Met1Val)
|
rs794726906
|
0.00001
|
NM_003119.4(SPG7):c.376+1G>T
|
rs746053679
|
0.00001
|
NM_003482.4(KMT2D):c.10740G>A (p.Gln3580=)
|
rs398123700
|
0.00001
|
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His)
|
rs760750012
|
0.00001
|
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)
|
rs772294884
|
0.00001
|
NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys)
|
rs752992432
|
0.00001
|
NM_004369.4(COL6A3):c.6799G>A (p.Gly2267Ser)
|
rs749855513
|
0.00001
|
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala)
|
rs886043576
|
0.00001
|
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val)
|
rs559933584
|
0.00001
|
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp)
|
rs281860303
|
0.00001
|
NM_005247.4(FGF3):c.625C>T (p.Arg209Ter)
|
rs374453035
|
0.00001
|
NM_005787.6(ALG3):c.444+1G>T
|
rs748878963
|
0.00001
|
NM_005989.4(AKR1D1):c.580-1G>A
|
rs749744865
|
0.00001
|
NM_006363.6(SEC23B):c.742G>A (p.Glu248Lys)
|
rs398124227
|
0.00001
|
NM_007294.4(BRCA1):c.4986+6T>C
|
rs80358086
|
0.00001
|
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)
|
rs121908420
|
0.00001
|
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn)
|
rs386834008
|
0.00001
|
NM_018122.5(DARS2):c.159_160del (p.Cys54fs)
|
rs773706813
|
0.00001
|
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)
|
rs398124348
|
0.00001
|
NM_019109.5(ALG1):c.262T>G (p.Leu88Val)
|
rs794727301
|
0.00001
|
NM_020779.4(WDR35):c.1468del (p.Gln490fs)
|
rs886044119
|
0.00001
|
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)
|
rs752582904
|
0.00001
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
NM_031433.4(MFRP):c.169C>T (p.Arg57Ter)
|
rs1422497202
|
0.00001
|
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter)
|
rs397515621
|
0.00001
|
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr)
|
rs143929819
|
0.00001
|
NM_138694.4(PKHD1):c.682A>G (p.Ser228Gly)
|
rs398124491
|
0.00001
|
NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr)
|
rs398124496
|
0.00001
|
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)
|
rs794727759
|
0.00001
|
NM_152617.4(RNF168):c.391C>T (p.Arg131Ter)
|
rs201915239
|
0.00001
|
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)
|
rs762551629
|
0.00001
|
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)
|
rs397517889
|
0.00001
|
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)
|
rs267607017
|
0.00001
|
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)
|
rs398124571
|
0.00001
|
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser)
|
rs398124576
|
0.00001
|
NM_183050.4(BCKDHB):c.508C>G (p.Arg170Gly)
|
rs398124581
|
0.00001
|
NM_183050.4(BCKDHB):c.974T>G (p.Leu325Arg)
|
rs398124604
|
0.00001
|
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)
|
rs62636267
|
0.00001
|
NM_201548.5(CERKL):c.239-1G>A
|
rs1559100465
|
0.00001
|
NM_213599.3(ANO5):c.2521-1del
|
rs752982710
|
0.00001
|
NC_000001.11:g.229432350C>A
|
rs727503797
|
|
NC_000002.12:g.178552644_178552645del
|
rs773840992
|
|
NC_000011.10:g.77198597_77198604delinsCA
|
rs111033259
|
|
NC_000019.10:g.1221994T>G
|
rs727504171
|
|
NM_000016.6(ACADM):c.253G>A (p.Gly85Ser)
|
rs398123075
|
|
NM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser)
|
rs398123080
|
|
NM_000019.4(ACAT1):c.203G>T (p.Gly68Val)
|
rs794727475
|
|
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)
|
rs1555568518
|
|
NM_000033.4(ABCD1):c.1201C>G (p.Arg401Gly)
|
rs727503786
|
|
NM_000033.4(ABCD1):c.1586G>A (p.Gly529Asp)
|
rs398123103
|
|
NM_000033.4(ABCD1):c.1660C>A (p.Arg554Ser)
|
rs398123104
|
|
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)
|
rs398123113
|
|
NM_000033.4(ABCD1):c.662A>C (p.Asp221Ala)
|
rs1569540711
|
|
NM_000033.4(ABCD1):c.886T>C (p.Tyr296His)
|
rs797044611
|
|
NM_000033.4(ABCD1):c.887A>C (p.Tyr296Ser)
|
rs797044610
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
NM_000052.7(ATP7A):c.3013G>A (p.Gly1005Arg)
|
rs1569550143
|
|
NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg)
|
rs773827877
|
|
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr)
|
rs1555422136
|
|
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=)
|
rs886043432
|
|
NM_000070.3(CAPN3):c.1745+5G>C
|
rs886042903
|
|
NM_000070.3(CAPN3):c.1914_1914+18del
|
rs1555422851
|
|
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)
|
rs794727318
|
|
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)
|
rs770894443
|
|
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del)
|
rs886043333
|
|
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)
|
rs868791726
|
|
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser)
|
rs886042296
|
|
NM_000088.4(COL1A1):c.1318G>A (p.Gly440Ser)
|
rs794727319
|
|
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser)
|
rs886042260
|
|
NM_000088.4(COL1A1):c.2588G>C (p.Gly863Ala)
|
rs886043749
|
|
NM_000088.4(COL1A1):c.2930G>T (p.Gly977Val)
|
rs886042308
|
|
NM_000088.4(COL1A1):c.3127G>A (p.Gly1043Arg)
|
rs886044125
|
|
NM_000088.4(COL1A1):c.959G>A (p.Gly320Asp)
|
rs72645353
|
|
NM_000089.4(COL1A2):c.1694G>C (p.Gly565Ala)
|
rs794727470
|
|
NM_000089.4(COL1A2):c.2189G>T (p.Gly730Val)
|
rs1562905224
|
|
NM_000089.4(COL1A2):c.2260G>T (p.Gly754Cys)
|
rs72658177
|
|
NM_000089.4(COL1A2):c.2693G>T (p.Gly898Val)
|
rs794727669
|
|
NM_000089.4(COL1A2):c.2738G>T (p.Gly913Val)
|
rs886042129
|
|
NM_000089.4(COL1A2):c.3793T>C (p.Ser1265Pro)
|
rs886044109
|
|
NM_000090.4(COL3A1):c.1151G>T (p.Gly384Val)
|
rs794727181
|
|
NM_000093.5(COL5A1):c.3781G>A (p.Gly1261Arg)
|
rs772445337
|
|
NM_000101.4(CYBA):c.288-3_300del
|
rs1567608830
|
|
NM_000117.3(EMD):c.284_298del (p.Tyr95_Tyr99del)
|
rs398123156
|
|
NM_000123.4(ERCC5):c.2678+1G>A
|
rs886044319
|
|
NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr)
|
rs1554875536
|
|
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
|
rs398123172
|
|
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu)
|
rs398123172
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys)
|
rs794727116
|
|
NM_000153.4(GALC):c.832A>C (p.Thr278Pro)
|
rs886042645
|
|
NM_000153.4(GALC):c.862T>C (p.Trp288Arg)
|
rs398123177
|
|
NM_000155.4(GALT):c.1139G>C (p.Ter380Ser)
|
rs749047676
|
|
NM_000155.4(GALT):c.203A>C (p.His68Pro)
|
rs193922247
|
|
NM_000155.4(GALT):c.289A>G (p.Asn97Asp)
|
rs1564100957
|
|
NM_000155.4(GALT):c.289_291del (p.Asn97del)
|
rs398123179
|
|
NM_000155.4(GALT):c.291C>G (p.Asn97Lys)
|
rs398123180
|
|
NM_000155.4(GALT):c.558C>A (p.His186Gln)
|
rs886042097
|
|
NM_000155.4(GALT):c.568T>C (p.Trp190Arg)
|
rs398123184
|
|
NM_000155.4(GALT):c.572C>T (p.Ala191Val)
|
rs794727838
|
|
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)
|
rs886043390
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
NM_000155.4(GALT):c.844C>G (p.Leu282Val)
|
rs111033772
|
|
NM_000155.4(GALT):c.985T>C (p.Ser329Pro)
|
rs398123188
|
|
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg)
|
rs121908305
|
|
NM_000157.4(GBA1):c.1227C>A (p.Asn409Lys)
|
rs749227753
|
|
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu)
|
rs398123528
|
|
NM_000157.4(GBA1):c.521A>G (p.Tyr174Cys)
|
rs781152868
|
|
NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg)
|
rs786200979
|
|
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr)
|
rs794727908
|
|
NM_000166.6(GJB1):c.271G>A (p.Val91Met)
|
rs756928158
|
|
NM_000169.3(GLA):c.1024C>G (p.Arg342Gly)
|
rs104894843
|
|
NM_000169.3(GLA):c.109G>C (p.Ala37Pro)
|
rs869312226
|
|
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser)
|
rs727504348
|
|
NM_000169.3(GLA):c.119C>G (p.Pro40Arg)
|
rs398123199
|
|
NM_000169.3(GLA):c.1225C>T (p.Pro409Ser)
|
rs878853698
|
|
NM_000169.3(GLA):c.127G>A (p.Gly43Ser)
|
rs886044906
|
|
NM_000169.3(GLA):c.146G>C (p.Arg49Pro)
|
rs398123205
|
|
NM_000169.3(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu)
|
rs1569306036
|
|
NM_000169.3(GLA):c.254G>A (p.Gly85Asp)
|
rs1569304898
|
|
NM_000169.3(GLA):c.335G>T (p.Arg112Leu)
|
rs372966991
|
|
NM_000169.3(GLA):c.398_413delinsCTGC (p.Ile133_Gly138delinsThrAla)
|
rs1569304218
|
|
NM_000169.3(GLA):c.41T>C (p.Leu14Pro)
|
rs730880455
|
|
NM_000169.3(GLA):c.610T>C (p.Trp204Arg)
|
rs869312148
|
|
NM_000169.3(GLA):c.613_621del (p.Pro205_Tyr207del)
|
rs1569303815
|
|
NM_000169.3(GLA):c.614C>T (p.Pro205Leu)
|
rs886044879
|
|
NM_000169.3(GLA):c.620A>C (p.Tyr207Ser)
|
rs797044727
|
|
NM_000169.3(GLA):c.708G>T (p.Trp236Cys)
|
rs869312386
|
|
NM_000169.3(GLA):c.823C>T (p.Leu275Phe)
|
rs398123222
|
|
NM_000169.3(GLA):c.887T>C (p.Met296Thr)
|
rs869312442
|
|
NM_000169.3(GLA):c.893A>G (p.Asn298Ser)
|
rs1569302985
|
|
NM_000169.3(GLA):c.896A>G (p.Asp299Gly)
|
rs1569302982
|
|
NM_000169.3(GLA):c.973G>A (p.Gly325Ser)
|
rs398123227
|
|
NM_000179.3(MSH6):c.3909_3913dup (p.Leu1305fs)
|
rs1572747149
|
|
NM_000181.4(GUSB):c.1534G>A (p.Gly512Arg)
|
rs794726973
|
|
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu)
|
rs794727700
|
|
NM_000193.4(SHH):c.1040C>G (p.Pro347Arg)
|
rs886042458
|
|
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg)
|
rs137852488
|
|
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr)
|
rs886044835
|
|
NM_000202.8(IDS):c.1508T>A (p.Val503Asp)
|
rs398123248
|
|
NM_000202.8(IDS):c.479C>A (p.Pro160His)
|
rs104894856
|
|
NM_000203.5(IDUA):c.1529C>G (p.Pro510Arg)
|
rs794727017
|
|
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu)
|
rs121965021
|
|
NM_000214.3(JAG1):c.886+3A>G
|
rs1555829065
|
|
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu)
|
rs104893869
|
|
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser)
|
rs775593146
|
|
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro)
|
rs886042073
|
|
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)
|
rs1298238512
|
|
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)
|
rs1555631998
|
|
NM_000271.5(NPC1):c.3671T>G (p.Phe1224Cys)
|
rs886043744
|
|
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)
|
rs1064794009
|
|
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
|
rs767489236
|
|
NM_000276.4(OCRL):c.1505T>C (p.Leu502Pro)
|
rs794727137
|
|
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)
|
rs137853263
|
|
NM_000282.4(PCCA):c.2118+1G>A
|
rs886043045
|
|
NM_000282.4(PCCA):c.947T>G (p.Met316Arg)
|
rs137861347
|
|
NM_000284.4(PDHA1):c.640T>C (p.Trp214Arg)
|
rs886042089
|
|
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del)
|
rs1555989523
|
|
NM_000297.4(PKD2):c.1906C>A (p.Gln636Lys)
|
rs398123307
|
|
NM_000303.3(PMM2):c.652C>G (p.His218Asp)
|
rs398123310
|
|
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg)
|
rs398123321
|
|
NM_000359.3(TGM1):c.758-2A>G
|
rs886042116
|
|
NM_000372.5(TYR):c.1392dup (p.Lys465Ter)
|
rs1555100853
|
|
NM_000372.5(TYR):c.1424_1433del (p.Trp475fs)
|
rs1402167763
|
|
NM_000400.4(ERCC2):c.594+2_594+5del
|
rs762309206
|
|
NM_000404.4(GLB1):c.1004C>T (p.Ala335Val)
|
rs398123347
|
|
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile)
|
rs202237232
|
|
NM_000404.4(GLB1):c.1A>C (p.Met1Leu)
|
rs794726886
|
|
NM_000404.4(GLB1):c.901G>A (p.Ala301Thr)
|
rs727503954
|
|
NM_000434.4(NEU1):c.1230_1234delinsGCCAAA (p.Ser410fs)
|
rs886042881
|
|
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs)
|
rs1562945221
|
|
NM_000443.4(ABCB4):c.79A>G (p.Ser27Gly)
|
rs1563012148
|
|
NM_000458.4(HNF1B):c.1561del (p.Gln521fs)
|
rs764042837
|
|
NM_000463.3(UGT1A1):c.1160_1161delinsGT (p.Pro387Arg)
|
rs1559415403
|
|
NM_000466.3(PEX1):c.3517C>T (p.Gln1173Ter)
|
rs1562842708
|
|
NM_000478.6(ALPL):c.395C>T (p.Ala132Val)
|
rs1558548925
|
|
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp)
|
rs74315455
|
|
NM_000489.6(ATRX):c.7366_7367del (p.Met2456fs)
|
rs797044723
|
|
NM_000492.3(CFTR):c.3468+2dup
|
rs1554392800
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
|
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)
|
rs142394380
|
|
NM_000492.4(CFTR):c.3717+40A>G
|
rs397508595
|
|
NM_000494.4(COL17A1):c.2228-3_2235delinsTTG
|
rs1554848576
|
|
NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del)
|
rs794726887
|
|
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys)
|
rs398123440
|
|
NM_000521.4(HEXB):c.1375G>T (p.Asp459Tyr)
|
rs398123447
|
|
NM_000521.4(HEXB):c.771+5G>C
|
rs727503959
|
|
NM_000521.4(HEXB):c.797A>G (p.Tyr266Cys)
|
rs398123450
|
|
NM_000530.8(MPZ):c.270C>G (p.Asp90Glu)
|
rs121913584
|
|
NM_000531.6(OTC):c.228A>C (p.Leu76Phe)
|
rs1555972495
|
|
NM_000533.5(PLP1):c.487T>C (p.Trp163Arg)
|
rs132630279
|
|
NM_000533.5(PLP1):c.683G>A (p.Cys228Tyr)
|
rs398123466
|
|
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)
|
rs121918592
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)
|
rs120074117
|
|
NM_000548.5(TSC2):c.3G>T (p.Met1Ile)
|
rs397515208
|
|
NM_000548.5(TSC2):c.4919A>C (p.His1640Pro)
|
rs794727602
|
|
NM_000551.4(VHL):c.326T>A (p.Ile109Asn)
|
rs398123482
|
|
NM_000554.6(CRX):c.856_865delinsGATCCC (p.Leu286fs)
|
rs1555802058
|
|
NM_000618.5(IGF1):c.220+1G>T
|
rs1566009282
|
|
NM_000693.4(ALDH1A3):c.184G>T (p.Glu62Ter)
|
rs1191459372
|
|
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly)
|
rs794727587
|
|
NM_000875.5(IGF1R):c.3187-2A>T
|
rs886042346
|
|
NM_000939.4(POMC):c.55C>T (p.Gln19Ter)
|
rs757720012
|
|
NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs)
|
rs762942358
|
|
NM_001032221.6(STXBP1):c.1454T>A (p.Ile485Asn)
|
rs1564355642
|
|
NM_001032221.6(STXBP1):c.87+1G>A
|
rs796053350
|
|
NM_001034853.2(RPGR):c.806G>A (p.Gly269Glu)
|
rs398123336
|
|
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs)
|
rs750744696
|
|
NM_001040142.2(SCN2A):c.1178C>A (p.Thr393Lys)
|
rs794727003
|
|
NM_001040142.2(SCN2A):c.2713A>G (p.Lys905Glu)
|
rs886043250
|
|
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)
|
rs794727444
|
|
NM_001077365.2(POMT1):c.1214_1215delinsTC (p.Glu405Val)
|
rs398124243
|
|
NM_001079802.2(FKTN):c.748T>C (p.Cys250Arg)
|
rs398123558
|
|
NM_001082538.3(TCTN1):c.979-2A>G
|
rs886044606
|
|
NM_001100.4(ACTA1):c.133G>T (p.Val45Phe)
|
rs398123562
|
|
NM_001100.4(ACTA1):c.142G>A (p.Gly48Ser)
|
rs794727488
|
|
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser)
|
rs398123563
|
|
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp)
|
rs1553255362
|
|
NM_001110792.2(MECP2):c.1486_*24del (p.Arg496_Ter499del)
|
rs1557134792
|
|
NM_001110792.2(MECP2):c.523G>T (p.Gly175Trp)
|
rs1557136974
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001113378.2(FANCI):c.286dup (p.Glu96fs)
|
rs1567142658
|
|
NM_001127644.2(GABRA1):c.640C>A (p.Arg214Ser)
|
rs727503940
|
|
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)
|
rs886043900
|
|
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)
|
rs886042878
|
|
NM_001130987.2(DYSF):c.4387+2T>A
|
rs759939755
|
|
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe)
|
rs886042584
|
|
NM_001130987.2(DYSF):c.6173G>A (p.Arg2058Lys)
|
rs886042452
|
|
NM_001130987.2(DYSF):c.888+1G>A
|
rs886044377
|
|
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
|
rs762659685
|
|
NM_001142800.2(EYS):c.9400del (p.Val3134fs)
|
rs886042614
|
|
NM_001146079.2(CLDN14):c.401del (p.Val134fs)
|
rs1555841710
|
|
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs)
|
rs1603273685
|
|
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met)
|
rs886042528
|
|
NM_001165963.4(SCN1A):c.1766A>T (p.Asp589Val)
|
rs398123584
|
|
NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser)
|
rs121918733
|
|
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)
|
rs121918788
|
|
NM_001165963.4(SCN1A):c.3646G>A (p.Glu1216Lys)
|
rs398123590
|
|
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)
|
rs121917995
|
|
NM_001165963.4(SCN1A):c.5141T>C (p.Met1714Thr)
|
rs121917949
|
|
NM_001165963.4(SCN1A):c.5389G>C (p.Ala1797Pro)
|
rs794727413
|
|
NM_001170629.2(CHD8):c.5127+1G>A
|
rs794727436
|
|
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser)
|
rs398123603
|
|
NM_001193315.2(VIPAS39):c.734+2T>C
|
rs1566731055
|
|
NM_001193315.2(VIPAS39):c.958C>T (p.Arg320Ter)
|
rs747749610
|
|
NM_001197104.2(KMT2A):c.6034A>T (p.Lys2012Ter)
|
rs782727635
|
|
NM_001206979.2(NR1H4):c.733-2A>G
|
rs1566464880
|
|
NM_001206979.2(NR1H4):c.831+1G>A
|
rs1555335782
|
|
NM_001206979.2(NR1H4):c.923dup (p.Leu309fs)
|
rs770757947
|
|
NM_001258392.3(CLPB):c.1123-2A>G
|
rs1555086480
|
|
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter)
|
rs1553490574
|
|
NM_001267550.2(TTN):c.104087del (p.Pro34696fs)
|
rs1553489404
|
|
NM_001267550.2(TTN):c.105077_105078del (p.Tyr35026fs)
|
rs1558999779
|
|
NM_001267550.2(TTN):c.105422dup (p.Tyr35141Ter)
|
rs1558995457
|
|
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)
|
rs534484592
|
|
NM_001267550.2(TTN):c.105605_105606del (p.Val35202fs)
|
rs886043462
|
|
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter)
|
rs886044460
|
|
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs)
|
rs794727544
|
|
NM_001267550.2(TTN):c.107205G>A (p.Trp35735Ter)
|
rs886044505
|
|
NM_001267550.2(TTN):c.107623_107626dup (p.Asn35876delinsIleTer)
|
rs1575175498
|
|
NM_001267550.2(TTN):c.107644del (p.Ser35882fs)
|
rs1179955071
|
|
NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter)
|
rs886044009
|
|
NM_001267550.2(TTN):c.49336dup (p.Tyr16446fs)
|
rs797044683
|
|
NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs)
|
rs886043718
|
|
NM_001267550.2(TTN):c.51883_51892del (p.Lys17295fs)
|
rs886042414
|
|
NM_001267550.2(TTN):c.53995G>T (p.Glu17999Ter)
|
rs794727387
|
|
NM_001267550.2(TTN):c.54190+1G>A
|
rs756339648
|
|
NM_001267550.2(TTN):c.55896_55908del (p.Arg18632fs)
|
rs1553670762
|
|
NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter)
|
rs1477101279
|
|
NM_001267550.2(TTN):c.56294del (p.Thr18765fs)
|
rs886044096
|
|
NM_001267550.2(TTN):c.56330_56334del (p.Met18777fs)
|
rs1559669161
|
|
NM_001267550.2(TTN):c.56359_56360del (p.Pro18787fs)
|
rs1553665556
|
|
NM_001267550.2(TTN):c.56716del (p.Glu18906fs)
|
rs1553663997
|
|
NM_001267550.2(TTN):c.58701_58702del (p.Val19567_Ser19568insTer)
|
rs1559614642
|
|
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)
|
rs886039027
|
|
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs)
|
rs876657666
|
|
NM_001267550.2(TTN):c.64680dup (p.Gly21561fs)
|
rs794729330
|
|
NM_001267550.2(TTN):c.67609del (p.Ile22537fs)
|
rs1553622205
|
|
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=)
|
rs1553619783
|
|
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter)
|
rs878854328
|
|
NM_001267550.2(TTN):c.70754del (p.Val23585fs)
|
rs886042441
|
|
NM_001267550.2(TTN):c.73332C>A (p.Cys24444Ter)
|
rs775374887
|
|
NM_001267550.2(TTN):c.73676_73694del (p.Arg24559fs)
|
rs1559414146
|
|
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter)
|
rs1553596594
|
|
NM_001267550.2(TTN):c.79162G>T (p.Gly26388Ter)
|
rs763822931
|
|
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter)
|
rs794729291
|
|
NM_001267550.2(TTN):c.80997_81012del (p.Ala26998_Tyr26999insTer)
|
rs727503559
|
|
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter)
|
rs869038795
|
|
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter)
|
rs886042331
|
|
NM_001267550.2(TTN):c.82541_82544dup (p.Arg27515delinsSerTer)
|
rs797044697
|
|
NM_001267550.2(TTN):c.82732A>T (p.Lys27578Ter)
|
rs368850871
|
|
NM_001267550.2(TTN):c.84296_84297del (p.Ser28099fs)
|
rs1553565463
|
|
NM_001267550.2(TTN):c.85173G>A (p.Trp28391Ter)
|
rs1553563519
|
|
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)
|
rs727504856
|
|
NM_001267550.2(TTN):c.88594+1G>T
|
rs794727467
|
|
NM_001267550.2(TTN):c.88979_88985del (p.Asp29660fs)
|
rs794727468
|
|
NM_001267550.2(TTN):c.90561del (p.Thr30188fs)
|
rs886044318
|
|
NM_001267550.2(TTN):c.91798_91799insT (p.Glu30600fs)
|
rs886042502
|
|
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)
|
rs72648250
|
|
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)
|
rs886044536
|
|
NM_001267550.2(TTN):c.95009del (p.Arg31670fs)
|
rs1559147521
|
|
NM_001267550.2(TTN):c.99401G>A (p.Trp33134Ter)
|
rs1559071558
|
|
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter)
|
rs794727539
|
|
NM_001267550.2(TTN):c.99919_99920dup (p.Ala33308fs)
|
rs886043854
|
|
NM_001277115.2(DNAH11):c.6546G>C (p.Lys2182Asn)
|
rs886042733
|
|
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=)
|
rs797044787
|
|
NM_001298.3(CNGA3):c.1978C>T (p.Gln660Ter)
|
rs1553450979
|
|
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln)
|
rs267606715
|
|
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val)
|
rs794727128
|
|
NM_001330260.2(SCN8A):c.3985A>G (p.Asn1329Asp)
|
rs794727362
|
|
NM_001347721.2(DYRK1A):c.896T>C (p.Phe299Ser)
|
rs1569376809
|
|
NM_001349338.3(FOXP1):c.1710_1722+2del
|
rs1559596230
|
|
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
|
rs1556401730
|
|
NM_001356.5(DDX3X):c.1712T>C (p.Leu571Ser)
|
rs886043639
|
|
NM_001360.3(DHCR7):c.1348del (p.Arg450fs)
|
rs886042362
|
|
NM_001364905.1(LRBA):c.5617_5620del (p.Ala1873fs)
|
rs1553956151
|
|
NM_001365536.1(SCN9A):c.5569del (p.Asp1857fs)
|
rs1553472910
|
|
NM_001367624.2(ZNF469):c.11496_11505del (p.Ser3833fs)
|
rs1567517877
|
|
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg)
|
rs727503840
|
|
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg)
|
rs886044289
|
|
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)
|
rs757259413
|
|
NM_001369369.1(FOXN1):c.1195_1225del (p.Cys399fs)
|
rs886043619
|
|
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)
|
rs397507174
|
|
NM_001371596.2(MFSD8):c.1A>T (p.Met1Leu)
|
rs1553957829
|
|
NM_001371986.1(UNC80):c.8698del (p.Trp2900fs)
|
rs886043644
|
|
NM_001372044.2(SHANK3):c.4836dup (p.Ser1613fs)
|
rs1555910895
|
|
NM_001374385.1(ATP8B1):c.3673del (p.Arg1225fs)
|
rs1568176564
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378609.3(OTOGL):c.3635-2A>G
|
rs1555296476
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001379110.1(SLC9A6):c.524+5G>A
|
rs796053284
|
|
NM_001379270.1(CNGA1):c.1617C>G (p.Tyr539Ter)
|
rs1560616550
|
|
NM_001384732.1(CPLANE1):c.9181_9185+1del
|
rs750972473
|
|
NM_001429.4(EP300):c.3671+5_3671+8del
|
rs886042977
|
|
NM_001625.4(AK2):c.656del (p.Val219fs)
|
rs1557611080
|
|
NM_001723.7(DST):c.22del (p.Tyr8fs)
|
rs775912185
|
|
NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu)
|
rs794727202
|
|
NM_001844.5(COL2A1):c.1340G>A (p.Gly447Asp)
|
rs886043561
|
|
NM_001844.5(COL2A1):c.1717G>C (p.Gly573Arg)
|
rs886042741
|
|
NM_001844.5(COL2A1):c.1771G>C (p.Gly591Arg)
|
rs886043712
|
|
NM_001844.5(COL2A1):c.1799G>T (p.Gly600Val)
|
rs794727438
|
|
NM_001844.5(COL2A1):c.1861G>A (p.Gly621Arg)
|
rs794727462
|
|
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp)
|
rs1555166528
|
|
NM_001844.5(COL2A1):c.2355+5G>A
|
rs1555166294
|
|
NM_001844.5(COL2A1):c.2428G>T (p.Gly810Cys)
|
rs794727596
|
|
NM_001844.5(COL2A1):c.2490_2491delinsAA (p.Gly831Arg)
|
rs886044702
|
|
NM_001844.5(COL2A1):c.2600G>T (p.Gly867Val)
|
rs886042849
|
|
NM_001844.5(COL2A1):c.2788G>C (p.Gly930Arg)
|
rs886043540
|
|
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp)
|
rs1555165242
|
|
NM_001844.5(COL2A1):c.3275G>A (p.Gly1092Asp)
|
rs794727684
|
|
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)
|
rs886043356
|
|
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)
|
rs121912870
|
|
NM_001848.3(COL6A1):c.1075_1076delinsAA (p.Gly359Asn)
|
rs886042646
|
|
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg)
|
rs764556767
|
|
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp)
|
rs886043351
|
|
NM_001848.3(COL6A1):c.805G>A (p.Gly269Arg)
|
rs886042856
|
|
NM_001848.3(COL6A1):c.823G>C (p.Gly275Arg)
|
rs1556425467
|
|
NM_001848.3(COL6A1):c.833G>A (p.Gly278Glu)
|
rs886043106
|
|
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)
|
rs398123643
|
|
NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu)
|
rs398123644
|
|
NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu)
|
rs886042684
|
|
NM_001848.3(COL6A1):c.941G>A (p.Gly314Glu)
|
rs1556425679
|
|
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val)
|
rs1568930426
|
|
NM_001849.4(COL6A2):c.1063G>T (p.Gly355Cys)
|
rs794727061
|
|
NM_001849.4(COL6A2):c.1770+1del
|
rs886044215
|
|
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp)
|
rs397515333
|
|
NM_001849.4(COL6A2):c.838G>A (p.Gly280Ser)
|
rs886043323
|
|
NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg)
|
rs886043323
|
|
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu)
|
rs886044088
|
|
NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu)
|
rs727502827
|
|
NM_001849.4(COL6A2):c.857G>T (p.Gly286Val)
|
rs727502827
|
|
NM_001849.4(COL6A2):c.866G>A (p.Gly289Asp)
|
rs886043554
|
|
NM_001849.4(COL6A2):c.866G>T (p.Gly289Val)
|
rs886043554
|
|
NM_001849.4(COL6A2):c.893G>C (p.Gly298Ala)
|
rs1487638242
|
|
NM_001849.4(COL6A2):c.920G>T (p.Gly307Val)
|
rs886042541
|
|
NM_001849.4(COL6A2):c.955-1G>A
|
rs886044265
|
|
NM_001851.6(COL9A1):c.1052C>A (p.Ser351Ter)
|
rs201035486
|
|
NM_001854.4(COL11A1):c.2369G>A (p.Gly790Asp)
|
rs886044242
|
|
NM_001854.4(COL11A1):c.3998_4009del (p.Gly1333_Gly1336del)
|
rs886042660
|
|
NM_001918.5(DBT):c.1447T>C (p.Ter483Arg)
|
rs398123663
|
|
NM_001927.4(DES):c.1255C>T (p.Pro419Ser)
|
rs62635763
|
|
NM_001927.4(DES):c.1346A>C (p.Lys449Thr)
|
rs267607485
|
|
NM_001927.4(DES):c.1411T>C (p.Ter471Gln)
|
rs886044329
|
|
NM_001927.4(DES):c.35C>T (p.Ser12Phe)
|
rs267607495
|
|
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe)
|
rs1554337974
|
|
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser)
|
rs1231842600
|
|
NM_002225.5(IVD):c.1179del (p.Leu394fs)
|
rs786204613
|
|
NM_002303.6(LEPR):c.1226C>A (p.Ala409Glu)
|
rs1446132233
|
|
NM_002335.4(LRP5):c.883+2_883+3del
|
rs1565347300
|
|
NM_002408.4(MGAT2):c.1006_1009del (p.Asp336fs)
|
rs768879640
|
|
NM_002470.4(MYH3):c.850T>G (p.Tyr284Asp)
|
rs886042111
|
|
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly)
|
rs201732356
|
|
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)
|
rs397507550
|
|
NM_002834.5(PTPN11):c.213T>G (p.Phe71Leu)
|
rs1555267558
|
|
NM_002857.4(PEX19):c.595-2A>G
|
rs1557853666
|
|
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)
|
rs1555354198
|
|
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp)
|
rs863223792
|
|
NM_003289.4(TPM2):c.279G>T (p.Gln93His)
|
rs727504180
|
|
NM_003482.4(KMT2D):c.15104G>C (p.Cys5035Ser)
|
rs398123723
|
|
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln)
|
rs886043497
|
|
NM_003482.4(KMT2D):c.15641G>A (p.Arg5214His)
|
rs398123729
|
|
NM_003673.4(TCAP):c.43_49dup (p.Arg17delinsLeuTer)
|
rs886044421
|
|
NM_003742.4(ABCB11):c.409G>A (p.Glu137Lys)
|
rs1026511416
|
|
NM_003764.4(STX11):c.473del (p.Lys158fs)
|
rs1554294339
|
|
NM_003995.4(NPR2):c.1393_1396del (p.Ile465fs)
|
rs886042851
|
|
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)
|
rs111033190
|
|
NM_004006.3(DMD):c.6614+3310G>T
|
rs797045526
|
|
NM_004006.3(DMD):c.8217+18052A>G
|
rs886042109
|
|
NM_004006.3(DMD):c.8548-2_8549dup
|
rs1556656895
|
|
NM_004100.5(EYA4):c.1341-2A>G
|
rs1276849351
|
|
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)
|
rs281865238
|
|
NM_004278.4(PIGL):c.660+1G>A
|
rs768198327
|
|
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr)
|
rs397507479
|
|
NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu)
|
rs121434553
|
|
NM_004369.4(COL6A3):c.6167G>A (p.Gly2056Glu)
|
rs1064795558
|
|
NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser)
|
rs397515332
|
|
NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg)
|
rs397515332
|
|
NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp)
|
rs886043737
|
|
NM_004369.4(COL6A3):c.6238G>A (p.Gly2080Ser)
|
rs1553553625
|
|
NM_004369.4(COL6A3):c.6309+1G>T
|
rs886043919
|
|
NM_004369.4(COL6A3):c.6355-1G>A
|
rs113605136
|
|
NM_004380.3(CREBBP):c.4481C>G (p.Pro1494Arg)
|
rs398124147
|
|
NM_004393.6(DAG1):c.1257del (p.Thr421fs)
|
rs886044452
|
|
NM_004393.6(DAG1):c.2597dup (p.Pro867fs)
|
rs1553653948
|
|
NM_004393.6(DAG1):c.41del (p.Ser14fs)
|
rs1553648360
|
|
NM_004525.3(LRP2):c.13139del (p.Pro4380fs)
|
rs80338754
|
|
NM_004625.4(WNT7A):c.610G>A (p.Gly204Ser)
|
rs387907231
|
|
NM_004985.5(KRAS):c.211T>G (p.Tyr71Asp)
|
rs387907205
|
|
NM_004998.4(MYO1E):c.1311del (p.Ile438fs)
|
rs1555411458
|
|
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg)
|
rs794727576
|
|
NM_005236.3(ERCC4):c.915del (p.Asn308fs)
|
rs772432152
|
|
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser)
|
rs727503935
|
|
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)
|
rs757091387
|
|
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg)
|
rs794727637
|
|
NM_005989.4(AKR1D1):c.843del (p.Glu282fs)
|
rs1562938039
|
|
NM_005989.4(AKR1D1):c.93+1G>T
|
rs916587979
|
|
NM_005989.4(AKR1D1):c.980G>T (p.Ter327Leu)
|
rs1554394506
|
|
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)
|
rs104893883
|
|
NM_006005.3(WFS1):c.937C>T (p.His313Tyr)
|
rs886044563
|
|
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His)
|
rs886043627
|
|
NM_006017.3(PROM1):c.1077+1G>C
|
rs745495162
|
|
NM_006031.6(PCNT):c.3166-2A>C
|
rs774553297
|
|
NM_006218.4(PIK3CA):c.311_322del (p.Pro104_Asn107del)
|
rs1553820381
|
|
NM_006306.4(SMC1A):c.1279G>A (p.Glu427Lys)
|
rs886044851
|
|
NM_006306.4(SMC1A):c.1834G>A (p.Ala612Thr)
|
rs727504164
|
|
NM_006306.4(SMC1A):c.2447G>A (p.Arg816His)
|
rs886044819
|
|
NM_006306.4(SMC1A):c.287G>C (p.Arg96Pro)
|
rs781817340
|
|
NM_006494.4(ERF):c.397_407del (p.Pro133fs)
|
rs1568472223
|
|
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg)
|
rs1345986424
|
|
NM_006517.5(SLC16A2):c.353A>C (p.His118Pro)
|
rs794726933
|
|
NM_006517.5(SLC16A2):c.839A>G (p.Tyr280Cys)
|
rs398124231
|
|
NM_007118.4(TRIO):c.6157A>T (p.Arg2053Ter)
|
rs1554086647
|
|
NM_007254.4(PNKP):c.1295_1298+6del
|
rs587784366
|
|
NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter)
|
rs139990565
|
|
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys)
|
rs1554770667
|
|
NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln)
|
rs387906937
|
|
NM_012210.4(TRIM32):c.1108del (p.Met370fs)
|
rs759376012
|
|
NM_012210.4(TRIM32):c.116_122del (p.Cys39fs)
|
rs1554732594
|
|
NM_012210.4(TRIM32):c.1569_1575del (p.Glu524fs)
|
rs886044106
|
|
NM_012232.6(CAVIN1):c.199C>T (p.Gln67Ter)
|
rs1555588981
|
|
NM_012233.3(RAB3GAP1):c.970dup (p.Leu324fs)
|
rs1231893162
|
|
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)
|
rs1452558347
|
|
NM_014009.4(FOXP3):c.1015C>G (p.Pro339Ala)
|
rs886044787
|
|
NM_014009.4(FOXP3):c.748_750del (p.Lys250del)
|
rs1557116163
|
|
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)
|
rs1555249106
|
|
NM_014491.4(FOXP2):c.502C>T (p.Gln168Ter)
|
rs1563045683
|
|
NM_014639.4(SKIC3):c.3106del (p.Tyr1036fs)
|
rs1554050112
|
|
NM_014795.4(ZEB2):c.3241T>A (p.Cys1081Ser)
|
rs886044396
|
|
NM_014797.3(ZBTB24):c.1134del (p.Phe378fs)
|
rs1214978641
|
|
NM_015072.5(TTLL5):c.2209C>T (p.Arg737Ter)
|
rs1555344661
|
|
NM_015072.5(TTLL5):c.2312C>G (p.Ser771Ter)
|
rs886043466
|
|
NM_015102.5(NPHP4):c.4031_4037del (p.Lys1344fs)
|
rs1557578607
|
|
NM_015107.3(PHF8):c.2210C>G (p.Ser737Ter)
|
rs797044665
|
|
NM_015215.4(CAMTA1):c.4369C>T (p.Arg1457Ter)
|
rs886043243
|
|
NM_015295.3(SMCHD1):c.4879dup (p.Thr1627fs)
|
rs886044257
|
|
NM_015295.3(SMCHD1):c.5568T>A (p.Cys1856Ter)
|
rs1568383892
|
|
NM_015338.6(ASXL1):c.1162_1163del (p.Val388fs)
|
rs886043994
|
|
NM_015909.4(NBAS):c.2950del (p.Ile984fs)
|
rs776797592
|
|
NM_016955.5(SEPSECS):c.808dup
|
rs776969714
|
|
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)
|
rs398124308
|
|
NM_017837.4(PIGV):c.781dup (p.Thr261fs)
|
rs1418108487
|
|
NM_017866.6(TMEM70):c.720_723del (p.Glu241fs)
|
rs746973761
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_018249.6(CDK5RAP2):c.1066C>T (p.Gln356Ter)
|
rs1564338190
|
|
NM_018451.5(CPAP):c.3538_3539delinsTG (p.Glu1180Ter)
|
rs1566276461
|
|
NM_018475.5(TMEM165):c.151C>T (p.Gln51Ter)
|
rs1560383746
|
|
NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser)
|
rs398124349
|
|
NM_020166.5(MCCC1):c.1277T>C (p.Val426Ala)
|
rs398124351
|
|
NM_020166.5(MCCC1):c.1973_1977+28del
|
rs776641008
|
|
NM_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_020812.4(DOCK6):c.705C>G (p.Tyr235Ter)
|
rs1555697020
|
|
NM_021224.6(ZNF462):c.2977_2979delinsTGGTG (p.Pro993fs)
|
rs1564106503
|
|
NM_022081.6(HPS4):c.148C>T (p.Gln50Ter)
|
rs372020804
|
|
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal)
|
rs797044772
|
|
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)
|
rs886043524
|
|
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)
|
rs121908453
|
|
NM_022437.3(ABCG8):c.63_63+53del
|
rs1553375267
|
|
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)
|
rs1554570813
|
|
NM_024301.5(FKRP):c.738_749del (p.Pro247_Thr250del)
|
rs886044496
|
|
NM_024408.4(NOTCH2):c.1041del (p.Ser346_Cys347insTer)
|
rs1557826721
|
|
NM_024408.4(NOTCH2):c.1567+2T>G
|
rs1557825245
|
|
NM_024809.5(TCTN2):c.964dup (p.Thr322fs)
|
rs746186338
|
|
NM_024915.4(GRHL2):c.1098+1G>A
|
rs886044309
|
|
NM_025132.4(WDR19):c.2830_2866del (p.Ile944fs)
|
rs1560541088
|
|
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter)
|
rs868044680
|
|
NM_030962.4(SBF2):c.5451+2T>G
|
rs886042830
|
|
NM_030962.4(SBF2):c.619+1G>A
|
rs1565150234
|
|
NM_031924.8(RSPH3):c.213del (p.Pro72fs)
|
rs1554289977
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
NM_033100.4(CDHR1):c.2246_2253del (p.Arg749fs)
|
rs886044648
|
|
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)
|
rs794727197
|
|
NM_033109.5(PNPT1):c.1661del (p.Ile554fs)
|
rs1553493871
|
|
NM_033337.3(CAV3):c.137C>T (p.Ala46Val)
|
rs116840773
|
|
NM_033337.3(CAV3):c.366dup (p.Leu123fs)
|
rs1553614449
|
|
NM_033380.3(COL4A5):c.645+2T>C
|
rs1569490387
|
|
NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val)
|
rs869320701
|
|
NM_080680.3(COL11A2):c.1719+3dup
|
rs1554220864
|
|
NM_080916.3(DGUOK):c.353G>A (p.Arg118His)
|
rs150678946
|
|
NM_130837.3(OPA1):c.1364C>T (p.Pro455Leu)
|
rs794727069
|
|
NM_130837.3(OPA1):c.610+364G>A
|
rs983041061
|
|
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del)
|
rs863225070
|
|
NM_130839.5(UBE3A):c.62T>C (p.Met21Thr)
|
rs587780577
|
|
NM_133433.4(NIPBL):c.7175G>A (p.Cys2392Tyr)
|
rs886042231
|
|
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs)
|
rs924232072
|
|
NM_138694.4(PKHD1):c.10664T>A (p.Ile3555Lys)
|
rs794727819
|
|
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu)
|
rs886042677
|
|
NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val)
|
rs121918339
|
|
NM_144672.4(OTOA):c.2148C>A (p.Cys716Ter)
|
rs886044667
|
|
NM_144991.3(TSPEAR):c.942C>G (p.Tyr314Ter)
|
rs146600721
|
|
NM_152443.3(RDH12):c.63_66del (p.Ile22fs)
|
rs794729650
|
|
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)
|
rs398124546
|
|
NM_153676.4(USH1C):c.2226+2T>C
|
rs1554954858
|
|
NM_153704.6(TMEM67):c.50T>A (p.Leu17Ter)
|
rs1563672487
|
|
NM_170707.4(LMNA):c.1146C>T (p.Gly382=)
|
rs57508089
|
|
NM_170707.4(LMNA):c.3G>T (p.Met1Ile)
|
rs794728598
|
|
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly)
|
rs58327533
|
|
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del)
|
rs58978449
|
|
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)
|
rs886043109
|
|
NM_170707.4(LMNA):c.99G>C (p.Glu33Asp)
|
rs57966821
|
|
NM_172107.4(KCNQ2):c.2T>A (p.Met1Lys)
|
rs118192186
|
|
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp)
|
rs28939684
|
|
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)
|
rs794727740
|
|
NM_172364.5(CACNA2D4):c.165G>A (p.Trp55Ter)
|
rs1284328591
|
|
NM_173076.3(ABCA12):c.5128+2T>C
|
rs1553523630
|
|
NM_173477.5(USH1G):c.1311del (p.Lys438fs)
|
rs886043626
|
|
NM_173560.4(RFX6):c.576C>A (p.Tyr192Ter)
|
rs781291978
|
|
NM_173630.4(RTTN):c.3380dup (p.Asn1127fs)
|
rs797044691
|
|
NM_182961.4(SYNE1):c.13060C>T (p.Gln4354Ter)
|
rs886044588
|
|
NM_182961.4(SYNE1):c.15168dup (p.Ala5057fs)
|
rs1554455233
|
|
NM_182961.4(SYNE1):c.17167C>T (p.Gln5723Ter)
|
rs886044380
|
|
NM_182961.4(SYNE1):c.2154del (p.Thr719fs)
|
rs886044155
|
|
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)
|
rs398124560
|
|
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)
|
rs398124562
|
|
NM_183050.4(BCKDHB):c.290A>T (p.Asp97Val)
|
rs886043103
|
|
NM_183050.4(BCKDHB):c.508C>A (p.Arg170Ser)
|
rs398124581
|
|
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys)
|
rs398124581
|
|
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)
|
rs149766077
|
|
NM_183050.4(BCKDHB):c.902T>G (p.Val301Gly)
|
rs398124600
|
|
NM_183357.3(ADCY5):c.2084G>C (p.Arg695Pro)
|
rs765349480
|
|
NM_213599.3(ANO5):c.1013+1G>T
|
rs1335126943
|
|
NM_213599.3(ANO5):c.2503_2505del (p.Phe835del)
|
rs794727350
|
|
NM_213599.3(ANO5):c.2599del (p.Arg867fs)
|
rs886042556
|
|
Single allele
|
|
|