NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
NM_016648.4(LARP7):c.651G>C (p.Glu217Asp)
|
rs141178932
|
0.00846
|
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)
|
rs139548132
|
0.00360
|
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)
|
rs41282065
|
0.00267
|
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)
|
rs145451123
|
0.00098
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu)
|
rs553950608
|
0.00044
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)
|
rs139455627
|
0.00027
|
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile)
|
rs200393300
|
0.00026
|
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)
|
rs374746113
|
0.00019
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_005186.4(CAPN1):c.1605+5G>A
|
rs375817528
|
0.00012
|
NM_004204.5(PIGQ):c.942+1G>A
|
rs200661329
|
0.00006
|
NM_015602.4(TOR1AIP1):c.1427C>T (p.Ala476Val)
|
rs201518227
|
0.00006
|
NM_001382567.1(STIM1):c.1681C>T (p.Arg561Cys)
|
rs142239530
|
0.00005
|
NM_001395891.1(CLASP1):c.196-602C>T
|
rs863225422
|
0.00005
|
NM_001395891.1(CLASP1):c.196-678C>T
|
rs544312701
|
0.00004
|
NM_015909.4(NBAS):c.2423+404G>C
|
rs1019313682
|
0.00004
|
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu)
|
rs761879076
|
0.00004
|
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)
|
rs146539065
|
0.00004
|
NM_017827.4(SARS2):c.1347G>A (p.Thr449=)
|
rs200404654
|
0.00004
|
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)
|
rs622288
|
0.00004
|
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)
|
rs61753219
|
0.00003
|
NM_006441.4(MTHFS):c.484C>T (p.Gln162Ter)
|
rs771379232
|
0.00003
|
NM_024306.5(FA2H):c.133G>T (p.Gly45Trp)
|
rs1247665387
|
0.00003
|
NM_001395891.1(CLASP1):c.196-672A>G
|
rs863225423
|
0.00002
|
NM_002437.5(MPV17):c.376-9T>G
|
rs368900406
|
0.00002
|
NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln)
|
rs753635972
|
0.00002
|
NM_000023.4(SGCA):c.957-11C>G
|
rs1391089933
|
0.00001
|
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)
|
rs1010184002
|
0.00001
|
NM_001163435.3(TBCK):c.456-2A>G
|
rs780527809
|
0.00001
|
NM_001267550.2(TTN):c.16054G>A (p.Asp5352Asn)
|
rs1190242728
|
0.00001
|
NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln)
|
rs1178187217
|
0.00001
|
NM_001378183.1(PIEZO2):c.1528-1G>A
|
rs1555648288
|
0.00001
|
NM_001903.5(CTNNA1):c.2191C>T (p.Arg731Ter)
|
rs1401839892
|
0.00001
|
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)
|
rs587784347
|
0.00001
|
NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn)
|
rs780533096
|
0.00001
|
NM_006759.4(UGP2):c.34A>G (p.Met12Val)
|
rs768305634
|
0.00001
|
NM_007289.4(MME):c.202C>T (p.Arg68Ter)
|
rs201692212
|
0.00001
|
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)
|
rs199564797
|
0.00001
|
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala)
|
rs1441937959
|
0.00001
|
NM_052867.4(NALCN):c.2579+5G>A
|
rs2035187622
|
0.00001
|
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)
|
rs387907260
|
0.00001
|
NM_153033.5(KCTD7):c.456G>A (p.Val152=)
|
rs796052686
|
0.00001
|
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1
|
|
|
NC_000014.9:g.35044389_35052476del
|
|
|
NC_000014.9:g.35077780_35087566del
|
|
|
NC_000017.11:g.59679324_59702065del
|
|
|
NC_012920.1(MT-CYB):m.591C>T
|
rs2124590812
|
|
NC_012920.1(MT-ND1):m.3502T>C
|
rs1603218987
|
|
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)
|
rs63750687
|
|
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg)
|
rs1557055405
|
|
NM_000043.6(FAS):c.197-2A>G
|
rs1564691414
|
|
NM_000138.5(FBN1):c.6998-13A>G
|
rs2042989627
|
|
NM_000334.4(SCN4A):c.3403C>A (p.Arg1135Ser)
|
rs1287863349
|
|
NM_000393.5(COL5A2):c.568-316_3525+41del
|
|
|
NM_000459.5(TEK):c.578A>G (p.Tyr193Cys)
|
rs1587545234
|
|
NM_000465.4(BARD1):c.860_861del (p.Glu287fs)
|
rs786201868
|
|
NM_000489.6(ATRX):c.5449-7A>G
|
rs2067371776
|
|
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)
|
rs137854539
|
|
NM_000660.7(TGFB1):c.512A>G (p.Tyr171Cys)
|
rs1599893542
|
|
NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu)
|
rs1555968941
|
|
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala)
|
rs797044849
|
|
NM_001042424.3(NSD2):c.957G>T (p.Arg319Ser)
|
rs1577434780
|
|
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg)
|
rs1553154130
|
|
NM_001069.3(TUBB2A):c.394G>A (p.Gly132Ser)
|
rs1064795249
|
|
NM_001080442.3(SLC38A8):c.913T>C (p.Ser305Pro)
|
rs1057521634
|
|
NM_001080472.4(FITM2):c.576del (p.Val193fs)
|
|
|
NM_001098511.3(KIF2A):c.938G>A (p.Gly313Glu)
|
rs1561273261
|
|
NM_001099857.5(IKBKG):c.519-2A>C
|
rs2071121693
|
|
NM_001127222.2(CACNA1A):c.4052G>T (p.Arg1351Leu)
|
rs1555745467
|
|
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)
|
rs1568447650
|
|
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)
|
rs1057519429
|
|
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr)
|
rs1555483699
|
|
NM_001161.5(NUDT2):c.186del (p.Ala63fs)
|
rs529087882
|
|
NM_001163435.2(TBCK):c.2060-9050_2235+26133del
|
|
|
NM_001260.3(CDK8):c.586A>T (p.Thr196Ser)
|
|
|
NM_001267550.2(TTN):c.102956_102958del (p.Thr34319del)
|
rs878854378
|
|
NM_001267550.2(TTN):c.44516del (p.Asp14839fs)
|
rs2058865334
|
|
NM_001303256.3(MORC2):c.1265A>G (p.Glu422Gly)
|
rs2040680054
|
|
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)
|
rs1064795559
|
|
NM_001303457.2(TTI1):c.1271A>G (p.His424Arg)
|
|
|
NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter)
|
rs770703007
|
|
NM_001323289.2(CDKL5):c.2762_2763del (p.Thr921fs)
|
rs1927146242
|
|
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs)
|
rs1555955290
|
|
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)
|
rs1057524820
|
|
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu)
|
rs2063927856
|
|
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)
|
rs1555954284
|
|
NM_001371727.1(GABRB2):c.904G>A (p.Val302Met)
|
rs1085307993
|
|
NM_001371986.1(UNC80):c.8772+2T>G
|
rs1553621496
|
|
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln)
|
rs1064796765
|
|
NM_001378452.1(ITPR1):c.5980-17G>A
|
rs2046415471
|
|
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter)
|
rs1572935708
|
|
NM_001382241.1(TNPO2):c.1643C>T (p.Ser548Phe)
|
rs2145492753
|
|
NM_001385012.1(NBEA):c.5899G>A (p.Gly1967Arg)
|
rs1594162606
|
|
NM_001395891.1(CLASP1):c.196-670T>C
|
rs982261295
|
|
NM_001614.5(ACTG1):c.611C>G (p.Ala204Gly)
|
rs11549225
|
|
NM_001690.4(ATP6V1A):c.1123C>A (p.Pro375Thr)
|
rs1559759089
|
|
NM_001844.5(COL2A1):c.3165+2_3166-84del
|
rs1938789358
|
|
NM_001845.6(COL4A1):c.2450G>A (p.Gly817Glu)
|
rs1878013473
|
|
NM_001845.6(COL4A1):c.4357C>T (p.Gln1453Ter)
|
rs2139146179
|
|
NM_001848.3(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly)
|
rs1569518070
|
|
NM_001904.4(CTNNB1):c.1016_1025delinsT (p.Thr339_Arg342delinsIle)
|
rs1559470315
|
|
NM_002107.7(H3-3A):c.377A>G (p.Gln126Arg)
|
rs1276519904
|
|
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro)
|
rs1421405659
|
|
NM_002539.3(ODC1):c.1313_1316del (p.Pro438fs)
|
rs1671795191
|
|
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys)
|
rs1602169116
|
|
NM_002608.4(PDGFB):c.598C>T (p.Arg200Ter)
|
rs1932260742
|
|
NM_002875.5(RAD51):c.772G>A (p.Glu258Lys)
|
rs1555429629
|
|
NM_003011.4(SET):c.340_341del (p.Glu114fs)
|
rs1861593395
|
|
NM_003107.3(SOX4):c.1040C>A (p.Ser347Ter)
|
rs2113558441
|
|
NM_003108.4(SOX11):c.293del (p.Phe98fs)
|
rs1558373252
|
|
NM_003470.3(USP7):c.2169_2170del (p.Arg723fs)
|
rs1555462347
|
|
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro)
|
rs779027563
|
|
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn)
|
rs1057518995
|
|
NM_003718.5(CDK13):c.181del (p.Leu61fs)
|
rs1554317002
|
|
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp)
|
rs1554333853
|
|
NM_003797.5(EED):c.1097T>C (p.Met366Thr)
|
rs1565706229
|
|
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser)
|
rs1553798675
|
|
NM_004333.6(BRAF):c.1592G>T (p.Trp531Leu)
|
rs397507478
|
|
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp)
|
rs776975632
|
|
NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu)
|
rs1555939456
|
|
NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs)
|
rs1597981046
|
|
NM_005032.7(PLS3):c.583-3C>A
|
rs2147551714
|
|
NM_005052.3(RAC3):c.34G>C (p.Gly12Arg)
|
rs2043431490
|
|
NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs)
|
rs397509401
|
|
NM_005559.4(LAMA1):c.9197del (p.Phe3066fs)
|
rs1555640521
|
|
NM_005591.4(MRE11):c.1500+1153_1563+1027del
|
|
|
NM_005632.3(CAPN15):c.2206C>T (p.Arg736Ter)
|
|
|
NM_005660.3(SLC35A2):c.245G>T (p.Cys82Phe)
|
rs1557043622
|
|
NM_005677.4(COLQ):c.718-1276C>T
|
rs2062220124
|
|
NM_005859.5(PURA):c.299T>C (p.Leu100Pro)
|
rs587782995
|
|
NM_005859.5(PURA):c.493G>A (p.Gly165Ser)
|
rs1561793272
|
|
NM_006003.3(UQCRFS1):c.215-1G>C
|
rs1568344751
|
|
NM_006079.5(CITED2):c.701A>C (p.Glu234Ala)
|
rs1583066622
|
|
NM_006087.4(TUBB4A):c.1062C>G (p.Cys354Trp)
|
rs748787734
|
|
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys)
|
rs886041091
|
|
NM_006295.3(VARS1):c.2590_2592delinsTGA (p.Ser864Ter)
|
|
|
NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter)
|
|
|
NM_006940.6(SOX5):c.224_225del (p.Gln75fs)
|
|
|
NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del)
|
rs1590955348
|
|
NM_012062.5(DNM1L):c.2094TCT[1] (p.Leu700del)
|
rs2137612089
|
|
NM_014225.6(PPP2R1A):c.96C>G (p.Ile32Met)
|
|
|
NM_014365.3(HSPB8):c.520_533del (p.Tyr174fs)
|
rs1565930588
|
|
NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr)
|
rs1307997067
|
|
NM_014727.3(KMT2B):c.4931G>T (p.Cys1644Phe)
|
rs1555731819
|
|
NM_015021.3(ZNF292):c.6578A>C (p.Tyr2193Ser)
|
rs1554208945
|
|
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)
|
rs1554504663
|
|
NM_015378.4(VPS13D):c.12242T>C (p.Val4081Ala)
|
|
|
NM_015570.4(AUTS2):c.1603C>T (p.His535Tyr)
|
rs1563183492
|
|
NM_015836.4(WARS2):c.148G>T (p.Gly50Cys)
|
rs11552864
|
|
NM_016653.3(MAP3K20):c.834CAA[1] (p.Asn279del)
|
rs2106303300
|
|
NM_017534.6(MYH2):c.5673+1G>C
|
rs1400481053
|
|
NM_017827.4(SARS2):c.1055A>C (p.Glu352Ala)
|
rs1600163739
|
|
NM_018077.3(RBM28):c.1489_1492dup (p.Val498fs)
|
|
|
NM_018116.4(MSTO1):c.676C>T (p.Gln226Ter)
|
rs1208636573
|
|
NM_018684.4(ZC4H2):c.53+10513C>T
|
rs1931569117
|
|
NM_019109.5(ALG1):c.876C>G (p.Phe292Leu)
|
rs1009298200
|
|
NM_019109.5(ALG1):c.877T>C (p.Ser293Pro)
|
rs1555452127
|
|
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp)
|
rs745886248
|
|
NM_020988.3(GNAO1):c.662C>A (p.Ala221Asp)
|
rs1555507479
|
|
NM_024496.4(IRF2BPL):c.1259T>C (p.Phe420Ser)
|
rs1566785990
|
|
NM_024496.4(IRF2BPL):c.2122del (p.Ala708fs)
|
rs1566785444
|
|
NM_024496.4(IRF2BPL):c.514G>T (p.Glu172Ter)
|
rs1448259271
|
|
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter)
|
rs1555377415
|
|
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter)
|
rs1345176461
|
|
NM_024757.5(EHMT1):c.2516G>T (p.Gly839Val)
|
rs1554888939
|
|
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter)
|
rs374052333
|
|
NM_030632.3(ASXL3):c.1082+1781_3039+950del
|
|
|
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp)
|
rs387906800
|
|
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter)
|
rs866294686
|
|
NM_030948.3:c.251-63908_415+29843dup
|
|
|
NM_031263.4(HNRNPK):c.203T>G (p.Leu68Arg)
|
rs1588432187
|
|
NM_031263.4(HNRNPK):c.214-35A>G
|
rs1554700718
|
|
NM_032119.4(ADGRV1):c.12511G>T (p.Gly4171Cys)
|
rs1581088032
|
|
NM_032536.4(NTNG2):c.858-13G>A
|
rs1840794100
|
|
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp)
|
rs1596048227
|
|
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)
|
rs730880471
|
|
NM_134261.3(RORA):c.821-17_827delinsGCTTTCGTGTTTG
|
rs1595874995
|
|
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp)
|
rs753688777
|
|
NM_138773.4(SLC25A46):c.385-852_385-739del
|
rs1580858058
|
|
NM_138773.4(SLC25A46):c.992T>C (p.Leu331Pro)
|
rs1580870952
|
|
NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs)
|
rs1569151872
|
|
NM_145207.3(AFG2A):c.164-1053_446+1328dup
|
|
|
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)
|
rs796052243
|
|
NM_170707.4(LMNA):c.1157+23_1158-45del
|
rs1572363509
|
|
NM_170707.4(LMNA):c.937-22_937-10del
|
rs886043199
|
|
NM_177972.3(TUB):c.1215+1G>A
|
rs1589996458
|
|
NM_178526.5(SLC25A42):c.309C>G (p.Tyr103Ter)
|
rs1568523935
|
|
NM_183065.4(TMEM107):c.*609G>A
|
rs200531412
|
|
NM_183065.4(TMEM107):c.*745C>G
|
rs746503581
|
|
NM_183357.3(ADCY5):c.3622C>T (p.Arg1208Cys)
|
|
|
NM_183381.3(RNF13):c.919G>T (p.Glu307Ter)
|
|
|
Single allele
|
|
|