NM_018677.4(ACSS2):c.1487T>C (p.Val496Ala)
|
rs59088485
|
0.00096
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln)
|
rs146221660
|
0.00004
|
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter)
|
rs398123017
|
0.00003
|
NM_001377142.1(PLCB4):c.1897C>T (p.Arg633Cys)
|
rs397514482
|
0.00003
|
NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter)
|
rs373182378
|
0.00001
|
NM_001567.4(INPPL1):c.768_769del (p.Glu258fs)
|
rs746647683
|
0.00001
|
NM_004826.4(ECEL1):c.869A>G (p.Tyr290Cys)
|
rs878853117
|
0.00001
|
NM_005787.6(ALG3):c.1154G>C (p.Arg385Thr)
|
rs376927697
|
0.00001
|
NM_005787.6(ALG3):c.395A>G (p.Tyr132Cys)
|
rs1085307981
|
0.00001
|
NM_005787.6(ALG3):c.611C>T (p.Ala204Val)
|
rs1719034314
|
0.00001
|
NM_005787.6(ALG3):c.656T>C (p.Leu219Pro)
|
rs1423328264
|
0.00001
|
NM_005787.6(ALG3):c.72G>A (p.Trp24Ter)
|
rs1023520147
|
0.00001
|
NM_005787.6(ALG3):c.914C>A (p.Ala305Asp)
|
rs373514167
|
0.00001
|
NM_021628.3(ALOXE3):c.418C>T (p.Arg140Ter)
|
rs370031870
|
0.00001
|
NC_000017.11:g.8113975_8119273delinsC
|
|
|
NC_000023.10:g.71681853_72434328del752476
|
|
|
NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg)
|
rs863223405
|
|
NM_001009999.3(KDM1A):c.1207G>A (p.Glu403Lys)
|
rs864309715
|
|
NM_001009999.3(KDM1A):c.1739A>G (p.Asp580Gly)
|
rs864309716
|
|
NM_001009999.3(KDM1A):c.2353T>C (p.Tyr785His)
|
rs864309714
|
|
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)
|
rs148942765
|
|
NM_001029.5(RPS26):c.4-2A>T
|
rs786203998
|
|
NM_001031.5(RPS28):c.1A>G (p.Met1Val)
|
rs786203997
|
|
NM_001085458.2(CTNND1):c.1007G>A (p.Trp336Ter)
|
rs2062048292
|
|
NM_001085458.2(CTNND1):c.2435+1G>T
|
rs2063072465
|
|
NM_001085458.2(CTNND1):c.937_938del (p.Asp313fs)
|
rs2061409627
|
|
NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr)
|
rs751701114
|
|
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs)
|
rs781020381
|
|
NM_001142730.3(KCTD1):c.1882C>T (p.Pro628Ser)
|
rs878853125
|
|
NM_001142730.3(KCTD1):c.1913C>A (p.Ala638Glu)
|
rs587776998
|
|
NM_001142730.3(KCTD1):c.1916C>A (p.Pro639His)
|
rs587776999
|
|
NM_001142730.3(KCTD1):c.1916C>G (p.Pro639Arg)
|
rs587776999
|
|
NM_001142730.3(KCTD1):c.1916C>T (p.Pro639Leu)
|
rs587776999
|
|
NM_001142730.3(KCTD1):c.1922A>C (p.His641Pro)
|
rs587777001
|
|
NM_001142730.3(KCTD1):c.1923C>A (p.His641Gln)
|
rs587777000
|
|
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp)
|
rs587777003
|
|
NM_001142730.3(KCTD1):c.2031C>A (p.Asp677Glu)
|
rs878853124
|
|
NM_001142730.3(KCTD1):c.2045A>C (p.His682Pro)
|
rs587777002
|
|
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp)
|
rs1057517686
|
|
NM_001283009.2(RTEL1):c.1482-1G>A
|
rs863225129
|
|
NM_001283009.2(RTEL1):c.1546G>C (p.Val516Leu)
|
rs748223349
|
|
NM_001283009.2(RTEL1):c.1618T>G (p.Ser540Ala)
|
rs863225130
|
|
NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del)
|
rs863225053
|
|
NM_001283009.2(RTEL1):c.2413+1G>C
|
rs776744306
|
|
NM_001283009.2(RTEL1):c.958+2dup
|
rs869312855
|
|
NM_001374623.1(PNPLA1):c.387C>A (p.Asp129Glu)
|
rs200806519
|
|
NM_001376.5(DYNC1H1):c.1706G>C (p.Arg569Pro)
|
rs797045178
|
|
NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His)
|
rs797045177
|
|
NM_001377142.1(PLCB4):c.1898G>A (p.Arg633His)
|
rs397514481
|
|
NM_001377142.1(PLCB4):c.1904A>G (p.Tyr635Cys)
|
rs397514480
|
|
NM_001377142.1(PLCB4):c.1984A>C (p.Asn662His)
|
rs397514483
|
|
NM_001377142.1(PLCB4):c.986A>C (p.Asn329Thr)
|
rs387907179
|
|
NM_001378183.1(PIEZO2):c.2134A>G (p.Met712Val)
|
rs587777453
|
|
NM_001378183.1(PIEZO2):c.3068T>C (p.Met1023Thr)
|
rs878853140
|
|
NM_001378183.1(PIEZO2):c.7001C>T (p.Thr2334Ile)
|
rs878853139
|
|
NM_001378183.1(PIEZO2):c.7007C>T (p.Ser2336Leu)
|
rs878853138
|
|
NM_001378183.1(PIEZO2):c.7406C>T (p.Thr2469Met)
|
rs878853137
|
|
NM_001378183.1(PIEZO2):c.8395C>T (p.Arg2799Cys)
|
rs587777451
|
|
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)
|
rs587777450
|
|
NM_001378183.1(PIEZO2):c.8492G>C (p.Arg2831Pro)
|
rs587777452
|
|
NM_001378183.1(PIEZO2):c.8492G>T (p.Arg2831Leu)
|
rs587777452
|
|
NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del)
|
rs1555621138
|
|
NM_001378183.1(PIEZO2):c.8547del (p.Tyr2850fs)
|
rs878853135
|
|
NM_001378183.1(PIEZO2):c.8554T>C (p.Ser2852Pro)
|
rs587777454
|
|
NM_001378183.1(PIEZO2):c.8577_8584del (p.Trp2859_Glu2862delinsTer)
|
rs724159993
|
|
NM_001567.3(INPPL1):c.[1687_1691delACCTC;35dupG]
|
|
|
NM_001567.3(INPPL1):c.[2415+1G>A;768_769delAG]
|
|
|
NM_001567.3(INPPL1):c.[24_39del16;753G>C]
|
|
|
NM_001567.4(INPPL1):c.1976C>T (p.Pro659Leu)
|
rs397514508
|
|
NM_001567.4(INPPL1):c.2071C>T (p.Arg691Trp)
|
rs878853123
|
|
NM_001567.4(INPPL1):c.545C>A (p.Ser182Ter)
|
rs397514509
|
|
NM_001615.4(ACTG2):c.119G>A (p.Arg40His)
|
rs587777386
|
|
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys)
|
rs587777387
|
|
NM_001619.5(GRK2):c.469C>T (p.Leu157Phe)
|
rs2136500272
|
|
NM_001753.5(CAV1):c.424C>T (p.Gln142Ter)
|
rs797045176
|
|
NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer)
|
rs797044871
|
|
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg)
|
rs1561417568
|
|
NM_002317.7(LOX):c.125G>A (p.Trp42Ter)
|
rs886040966
|
|
NM_002317.7(LOX):c.604G>T (p.Gly202Ter)
|
rs1473260982
|
|
NM_002317.7(LOX):c.743C>T (p.Thr248Ile)
|
rs1561420103
|
|
NM_002317.7(LOX):c.800A>C (p.Gln267Pro)
|
rs886040967
|
|
NM_002317.7(LOX):c.839G>T (p.Ser280Ile)
|
rs886040965
|
|
NM_002470.4(MYH3):c.3214_3216dup (p.Asn1072dup)
|
rs878853126
|
|
NM_002470.4(MYH3):c.3224A>C (p.Gln1075Pro)
|
rs796051884
|
|
NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del)
|
rs1555527166
|
|
NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs)
|
|
|
NM_004826.3(ECEL1):c.[1184+3A>T;1252C>A]
|
|
|
NM_004826.3(ECEL1):c.[1252C>T;590G>A]
|
|
|
NM_004826.3(ECEL1):c.[344_355delACCTGGACGCCA;716dupA]
|
|
|
NM_004826.4(ECEL1):c.1184G>A (p.Arg395Gln)
|
rs765430577
|
|
NM_004826.4(ECEL1):c.716dup (p.Tyr239Ter)
|
rs587776917
|
|
NM_004826.4(ECEL1):c.797_801delinsGCT (p.Asp266fs)
|
rs878853118
|
|
NM_005157.6(ABL1):c.1388G>A (p.Gly463Asp)
|
rs2133017541
|
|
NM_005660.3(SLC35A2):c.3G>A (p.Met1Ile)
|
rs587776962
|
|
NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile)
|
rs587776961
|
|
NM_005787.6(ALG3):c.749T>A (p.Leu250Gln)
|
rs2108440795
|
|
NM_005787.6(ALG3):c.752T>C (p.Leu251Pro)
|
rs1085307980
|
|
NM_005787.6(ALG3):c.796C>T (p.Arg266Cys)
|
rs747953768
|
|
NM_005787.6(ALG3):c.991C>T (p.Gln331Ter)
|
rs1553827968
|
|
NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser)
|
rs587779413
|
|
NM_006280.3(SSR4):c.317del (p.Phe106fs)
|
rs606231298
|
|
NM_006496.4(GNAI3):c.118G>C (p.Gly40Arg)
|
rs387907178
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.594_597delTGTG
|
rs797045175
|
|
NM_016356.4(DCDC2):c.426_557del
|
|
|
NM_016356.5(DCDC2):c.51G>C (p.Lys17Asn)
|
rs1042640142
|
|
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)
|
rs587777695
|
|
NM_052867.4(NALCN):c.1526T>C (p.Leu509Ser)
|
rs786203987
|
|
NM_052867.4(NALCN):c.1534T>G (p.Phe512Val)
|
rs878853132
|
|
NM_052867.4(NALCN):c.1538C>A (p.Thr513Asn)
|
rs878853131
|
|
NM_052867.4(NALCN):c.1733A>C (p.Tyr578Ser)
|
rs786203988
|
|
NM_052867.4(NALCN):c.1768C>T (p.Leu590Phe)
|
rs786203986
|
|
NM_052867.4(NALCN):c.3017T>C (p.Val1006Ala)
|
rs878853130
|
|
NM_052867.4(NALCN):c.3050T>C (p.Ile1017Thr)
|
rs878853129
|
|
NM_052867.4(NALCN):c.3493A>C (p.Thr1165Pro)
|
rs878853128
|
|
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln)
|
rs786201003
|
|
NM_052867.4(NALCN):c.4338T>G (p.Ile1446Met)
|
rs878853127
|
|
NM_052867.4(NALCN):c.530A>C (p.Gln177Pro)
|
rs786203984
|
|
NM_052867.4(NALCN):c.934C>A (p.Leu312Ile)
|
rs878853134
|
|
NM_052867.4(NALCN):c.938T>G (p.Val313Gly)
|
rs786203985
|
|
NM_052867.4(NALCN):c.979G>A (p.Glu327Lys)
|
rs878853133
|
|
NM_058163.3(TSR2):c.191A>G (p.Glu64Gly)
|
rs786203996
|
|
NM_139119.3(YY1AP1):c.1976T>A (p.Leu659Ter)
|
rs1057519597
|
|
NM_139119.3(YY1AP1):c.310C>T (p.Gln104Ter)
|
rs749232831
|
|
NM_152707.4(SLC25A16):c.92G>T (p.Arg31Leu)
|
rs771745123
|
|
NM_182895.5(SCARF2):c.190T>C (p.Cys64Arg)
|
rs587777657
|
|
NM_182895.5(SCARF2):c.466TGCCAG[1] (p.156CQ[1])
|
rs2146131503
|
|
NM_182895.5(SCARF2):c.651C>G (p.Cys217Trp)
|
rs2146130979
|
|
SLC35A2:c.15_91+48delinsA
|
rs1557044030
|
|