NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu)
|
rs764323652
|
0.00008
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)
|
rs199473011
|
0.00003
|
NM_000132.4(F8):c.1748A>G (p.Asn583Ser)
|
rs782657516
|
0.00002
|
NM_005591.4(MRE11):c.77T>C (p.Met26Thr)
|
rs372068015
|
0.00002
|
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln)
|
rs765548847
|
0.00002
|
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg)
|
rs1457269547
|
0.00001
|
NM_000143.4(FH):c.1048C>T (p.Arg350Trp)
|
rs755436052
|
0.00001
|
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)
|
rs730882090
|
0.00001
|
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu)
|
rs1190944498
|
0.00001
|
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu)
|
rs104894586
|
0.00001
|
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)
|
rs1410990711
|
0.00001
|
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)
|
rs377225525
|
0.00001
|
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys)
|
rs886041241
|
0.00001
|
NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu)
|
rs760635077
|
0.00001
|
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser)
|
rs772606107
|
0.00001
|
NM_012123.4(MTO1):c.1261-5T>G
|
rs1275100093
|
0.00001
|
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln)
|
rs371179032
|
0.00001
|
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys)
|
rs200187887
|
0.00001
|
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val)
|
rs751139506
|
0.00001
|
NM_000051.4(ATM):c.2838+6T>C
|
rs781730571
|
|
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly)
|
rs1565520641
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val)
|
rs753232669
|
|
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly)
|
rs2039600745
|
|
NM_000487.6(ARSA):c.937C>G (p.Arg313Gly)
|
rs551472773
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp)
|
rs1579729357
|
|
NM_001110792.2(MECP2):c.1A>G (p.Met1Val)
|
rs587783132
|
|
NM_001127178.3(PIGG):c.1030A>C (p.Met344Leu)
|
rs757141700
|
|
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala)
|
rs747618415
|
|
NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter)
|
rs886042662
|
|
NM_001375380.1(EBF3):c.454C>T (p.Arg152Cys)
|
rs2134623972
|
|
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del)
|
rs63750688
|
|
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile)
|
rs587777620
|
|
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln)
|
rs1555945553
|
|
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val)
|
rs1600388982
|
|
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser)
|
rs745643715
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
NM_004818.3(DDX23):c.1886T>G (p.Ile629Ser)
|
rs1938405472
|
|
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)
|
rs886037963
|
|
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu)
|
rs1557960268
|
|
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)
|
rs1554984881
|
|
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)
|
rs753855245
|
|
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys)
|
rs1163170578
|
|
NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg)
|
rs760854242
|
|
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser)
|
rs928811814
|
|
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)
|
rs1581809655
|
|