NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)
|
rs114368325
|
0.00079
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp)
|
rs139515727
|
0.00011
|
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu)
|
rs764323652
|
0.00008
|
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly)
|
rs765088174
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_004425.4(ECM1):c.499T>A (p.Phe167Ile)
|
rs121909116
|
0.00004
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)
|
rs121912860
|
0.00001
|
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)
|
rs730882090
|
0.00001
|
NM_001080472.4(FITM2):c.694G>A (p.Gly232Arg)
|
rs765281145
|
0.00001
|
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys)
|
rs2036159242
|
0.00001
|
NM_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter)
|
rs546151500
|
0.00001
|
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)
|
rs397507504
|
0.00001
|
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu)
|
rs104894586
|
0.00001
|
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)
|
rs377225525
|
0.00001
|
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg)
|
rs1264794214
|
0.00001
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
NM_017866.6(TMEM70):c.105dup (p.Val36fs)
|
rs1411381518
|
0.00001
|
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys)
|
rs121912822
|
0.00001
|
NM_000016.6(ACADM):c.472T>C (p.Tyr158His)
|
rs1570876467
|
|
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg)
|
rs122460152
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu)
|
rs121912826
|
|
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)
|
rs1175052474
|
|
NM_000092.5(COL4A4):c.193-2A>C
|
rs2125038490
|
|
NM_000092.5(COL4A4):c.2734G>C (p.Gly912Arg)
|
rs1553640846
|
|
NM_000092.5(COL4A4):c.71+1del
|
rs2125387640
|
|
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg)
|
rs1557191170
|
|
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)
|
rs730880674
|
|
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)
|
rs1272572107
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_000965.5(RARB):c.1210C>T (p.Gln404Ter)
|
rs1575553547
|
|
NM_001029896.2(WDR45):c.516+1_516+3del
|
rs1557084113
|
|
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg)
|
rs1064795334
|
|
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter)
|
rs746975723
|
|
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val)
|
rs1554991378
|
|
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr)
|
rs1588582695
|
|
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala)
|
rs1555492758
|
|
NM_001323289.2(CDKL5):c.554+1G>A
|
rs1555950083
|
|
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)
|
rs140948465
|
|
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys)
|
rs864309721
|
|
NM_001848.3(COL6A1):c.1056+1del
|
rs1556425853
|
|
NM_003482.4(KMT2D):c.15157GACCTG[3] (p.5053DL[3])
|
rs398123725
|
|
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys)
|
rs1005618432
|
|
NM_004341.5(CAD):c.1843-3C>T
|
rs1057519262
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
NM_005591.4(MRE11):c.1112dup (p.Gly372fs)
|
rs1591681273
|
|
NM_005591.4(MRE11):c.820_821del (p.Leu274fs)
|
rs1565228898
|
|
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu)
|
rs1557045250
|
|
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del)
|
rs1197928094
|
|
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)
|
rs886037963
|
|
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)
|
rs869025191
|
|
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
|
|
|
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro)
|
rs1553319290
|
|
NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del)
|
rs1595625099
|
|
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys)
|
rs1163170578
|
|
NM_016123.4(IRAK4):c.333del (p.Leu112fs)
|
|
|
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)
|
rs146664036
|
|
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter)
|
rs773047607
|
|
NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)
|
|
|
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)
|
rs397509422
|
|
NM_032861.4(SERAC1):c.91+6T>C
|
rs1554265452
|
|
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp)
|
rs104886450
|
|
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln)
|
rs786201003
|
|
NM_078629.4(MSL3):c.1466+1G>A
|
rs1601774648
|
|
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)
|
rs1581809655
|
|
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)
|
rs796052243
|
|
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala)
|
rs1599725621
|
|
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter)
|
rs1045493304
|
|