NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)
|
rs35201073
|
0.00128
|
NM_002226.5(JAG2):c.2044C>T (p.Pro682Ser)
|
rs200708284
|
0.00019
|
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)
|
rs61752334
|
0.00011
|
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met)
|
rs371709824
|
0.00009
|
NM_001287491.2(TET3):c.2254C>T (p.Arg752Cys)
|
rs534089911
|
0.00008
|
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp)
|
rs778665661
|
0.00006
|
NM_144988.4(ALG14):c.422T>G (p.Val141Gly)
|
rs139005007
|
0.00006
|
NM_017646.6(TRIT1):c.1256A>C (p.His419Pro)
|
rs566435653
|
0.00005
|
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)
|
rs147227819
|
0.00005
|
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser)
|
rs199622789
|
0.00004
|
NM_017951.5(SMPD4):c.1220C>T (p.Pro407Leu)
|
rs747433356
|
0.00004
|
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter)
|
rs199896820
|
0.00004
|
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln)
|
rs376095522
|
0.00004
|
NM_144988.4(ALG14):c.326G>A (p.Arg109Gln)
|
rs199689080
|
0.00004
|
NM_001387263.1(PATL2):c.839G>A (p.Arg280Gln)
|
rs569729547
|
0.00003
|
NM_001042646.3(TRAK1):c.986T>C (p.Leu329Pro)
|
rs770281448
|
0.00001
|
NM_001302084.2(TOP6BL):c.1006T>C (p.Ser336Pro)
|
rs1449401018
|
0.00001
|
NM_001387263.1(PATL2):c.1108G>A (p.Gly370Arg)
|
rs1397500378
|
0.00001
|
NM_001387263.1(PATL2):c.953T>C (p.Ile318Thr)
|
rs1011539285
|
0.00001
|
NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn)
|
rs770597316
|
0.00001
|
NM_001447.3(FAT2):c.10946G>A (p.Arg3649Gln)
|
rs201335279
|
0.00001
|
NM_005269.3(GLI1):c.1517T>A (p.Leu506Gln)
|
rs753690500
|
0.00001
|
NM_012268.4(PLD3):c.923T>C (p.Leu308Pro)
|
rs537053537
|
0.00001
|
NM_015231.3(NUP160):c.2305G>A (p.Glu769Lys)
|
rs775637217
|
0.00001
|
NM_015231.3(NUP160):c.2626C>T (p.Arg876Ter)
|
rs766361033
|
0.00001
|
NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu)
|
rs1060505019
|
0.00001
|
NM_033004.4(NLRP1):c.2176C>T (p.Arg726Trp)
|
rs776245016
|
0.00001
|
NM_152268.4(PARS2):c.836C>T (p.Ser279Leu)
|
rs730882153
|
0.00001
|
NM_000180.4(GUCY2D):c.2798T>C (p.Val933Ala)
|
rs1567961904
|
|
NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg)
|
rs1554571225
|
|
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro)
|
rs1567861571
|
|
NM_001103.4(ACTN2):c.392T>C (p.Leu131Pro)
|
rs1572114611
|
|
NM_001130144.3(LTBP3):c.2087C>G (p.Ser696Cys)
|
rs1554974135
|
|
NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys)
|
rs1572996700
|
|
NM_001135651.3(EIF2AK2):c.31A>C (p.Met11Leu)
|
rs1363544084
|
|
NM_001135651.3(EIF2AK2):c.325G>T (p.Ala109Ser)
|
rs1675334390
|
|
NM_001135651.3(EIF2AK2):c.398A>T (p.Tyr133Phe)
|
rs1573029592
|
|
NM_001135651.3(EIF2AK2):c.95A>C (p.Asn32Thr)
|
rs1675604381
|
|
NM_001135651.3(EIF2AK2):c.95A>G (p.Asn32Ser)
|
rs1675604381
|
|
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter)
|
rs1555214288
|
|
NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu)
|
rs115596308
|
|
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu)
|
rs1426679303
|
|
NM_001321967.2(ATAD1):c.162G>C (p.Gln54His)
|
rs1554884979
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001563.4(IMPG1):c.1838T>C (p.Leu613Pro)
|
rs1781948884
|
|
NM_002226.5(JAG2):c.221G>C (p.Cys74Ser)
|
rs2141000225
|
|
NM_002226.5(JAG2):c.490G>A (p.Glu164Lys)
|
rs1888570315
|
|
NM_002226.5(JAG2):c.728C>A (p.Ala243Asp)
|
rs867073471
|
|
NM_002437.5(MPV17):c.70G>T (p.Gly24Trp)
|
rs121909725
|
|
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys)
|
rs121913621
|
|
NM_002470.4(MYH3):c.1385A>G (p.Asp462Gly)
|
rs121913622
|
|
NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro)
|
rs1567553806
|
|
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)
|
rs398122368
|
|
NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)
|
|
|
NM_003380.5(VIM):c.623A>G (p.Gln208Arg)
|
rs1085307141
|
|
NM_003676.4(DEGS1):c.395A>G (p.His132Arg)
|
rs1558209997
|
|
NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn)
|
rs1554763777
|
|
NM_004184.4(WARS1):c.1342C>T (p.Arg448Trp)
|
|
|
NM_004184.4(WARS1):c.997G>A (p.Ala333Thr)
|
|
|
NM_004311.4(ARL3):c.269A>G (p.Tyr90Cys)
|
rs1564730440
|
|
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg)
|
rs1562974383
|
|
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg)
|
rs201816920
|
|
NM_004539.4(NARS1):c.32G>C (p.Arg11Pro)
|
rs771435243
|
|
NM_004897.5(MINPP1):c.1456G>A (p.Glu486Lys)
|
rs2131848604
|
|
NM_005032.7(PLS3):c.1774A>G (p.Met592Val)
|
|
|
NM_005647.4(TBL1X):c.1246A>T (p.Asn416Tyr)
|
rs1601855785
|
|
NM_005647.4(TBL1X):c.1510C>T (p.His504Tyr)
|
rs1601857538
|
|
NM_005647.4(TBL1X):c.1526A>G (p.Tyr509Cys)
|
rs1601857555
|
|
NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter)
|
rs1555669421
|
|
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp)
|
rs1555639254
|
|
NM_012479.4(YWHAG):c.44A>C (p.Glu15Ala)
|
rs1554618767
|
|
NM_014003.4(DHX38):c.995G>A (p.Gly332Asp)
|
rs587777554
|
|
NM_014055.4(IFT81):c.1300CTT[1] (p.Leu435del)
|
rs1555266475
|
|
NM_014727.3(KMT2B):c.7549C>T (p.Arg2517Trp)
|
rs1057519285
|
|
NM_014874.4(MFN2):c.491C>T (p.Ala164Val)
|
rs1553142699
|
|
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp)
|
rs864622179
|
|
NM_015213.4(DENND5A):c.1622A>G (p.Asp541Gly)
|
rs1057519309
|
|
NM_015278.5(SASH1):c.1537A>C (p.Ser513Arg)
|
rs1237876014
|
|
NM_015278.5(SASH1):c.1784T>C (p.Met595Thr)
|
rs1562491501
|
|
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys)
|
rs28942099
|
|
NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly)
|
rs1562851259
|
|
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del)
|
rs772520618
|
|
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser)
|
rs1555028104
|
|
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter)
|
rs367752391
|
|
NM_018965.4(TREM2):c.401A>G (p.Asp134Gly)
|
rs28939079
|
|
NM_018965.4(TREM2):c.558G>T (p.Lys186Asn)
|
rs28937876
|
|
NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del)
|
rs1180204613
|
|
NM_020702.5(MYORG):c.695C>T (p.Ser232Leu)
|
rs757434146
|
|
NM_020702.5(MYORG):c.782_783delinsTT (p.Arg261Leu)
|
rs1563982307
|
|
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu)
|
rs1085308061
|
|
NM_024844.5(NUP85):c.1430C>T (p.Ala477Val)
|
rs1568094661
|
|
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu)
|
rs1554261079
|
|
NM_133181.4(EPS8L3):c.22G>A (p.Ala8Thr)
|
rs1650987435
|
|
NM_138638.5(CFL2):c.19G>A (p.Val7Met)
|
rs397515451
|
|
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
|
rs777183511
|
|
NM_152268.4(PARS2):c.239T>C (p.Ile80Thr)
|
rs1246773873
|
|
NM_152268.4(PARS2):c.604C>G (p.Arg202Gly)
|
rs141760650
|
|
NM_152268.4(PARS2):c.607G>A (p.Glu203Lys)
|
rs1557762729
|
|
NM_152713.5(STT3A):c.1589A>C (p.Tyr530Ser)
|
rs2135940602
|
|
NM_152713.5(STT3A):c.1637C>T (p.Thr546Ile)
|
rs2135940683
|
|
NM_152713.5(STT3A):c.985C>T (p.Arg329Cys)
|
rs2135932096
|
|
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg)
|
rs772437766
|
|