NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_016233.2(PADI3):c.335T>A (p.Leu112His)
|
rs142129409
|
0.00502
|
NM_000250.2(MPO):c.2031-2A>C
|
rs35897051
|
0.00472
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_000065.5(C6):c.2381+2T>C
|
rs76202909
|
0.00242
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_016327.3(UPB1):c.917-1G>A
|
rs143493067
|
0.00169
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)
|
rs55886062
|
0.00040
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)
|
rs121908253
|
0.00019
|
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)
|
rs137854617
|
0.00016
|
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)
|
rs199795381
|
0.00014
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00013
|
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)
|
rs199422209
|
0.00011
|
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)
|
rs546989392
|
0.00010
|
NM_024666.5(AAGAB):c.1A>G (p.Met1Val)
|
rs539301011
|
0.00010
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)
|
rs104894705
|
0.00009
|
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)
|
rs121908121
|
0.00007
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
NM_000143.4(FH):c.521C>G (p.Pro174Arg)
|
rs199822819
|
0.00003
|
NM_000257.4(MYH7):c.1325G>A (p.Arg442His)
|
rs730880870
|
0.00003
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys)
|
rs111033568
|
0.00002
|
NM_012200.4(B3GAT3):c.1A>T (p.Met1Leu)
|
rs139759238
|
0.00002
|
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu)
|
rs376328153
|
0.00002
|
NM_024422.6(DSC2):c.943-1G>A
|
rs796756333
|
0.00002
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter)
|
rs765027608
|
0.00001
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)
|
rs111033565
|
0.00001
|
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro)
|
rs782024654
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_152384.3(BBS5):c.209-2A>G
|
rs1477098739
|
0.00001
|
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)
|
rs267607578
|
0.00001
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
NM_000027.4(AGA):c.336del (p.Ile112fs)
|
rs386833422
|
|
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)
|
rs41293513
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg)
|
rs863223650
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)
|
rs775404728
|
|
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu)
|
rs2069544
|
|
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala)
|
rs1368508052
|
|
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro)
|
rs879254936
|
|
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys)
|
rs879255045
|
|
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter)
|
rs1057523275
|
|
NM_001267550.2(TTN):c.41329+1G>T
|
rs796238032
|
|
NM_001267550.2(TTN):c.49263C>A (p.Tyr16421Ter)
|
rs376188859
|
|
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)
|
rs751502842
|
|
NM_001267550.2(TTN):c.58388del (p.Asn19463fs)
|
rs2050854171
|
|
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)
|
rs886039027
|
|
NM_001267550.2(TTN):c.63793+1G>A
|
rs2154182296
|
|
NM_001267550.2(TTN):c.79018G>T (p.Glu26340Ter)
|
rs2154166071
|
|
NM_001267550.2(TTN):c.80530del (p.Ser26844fs)
|
rs2154164929
|
|
NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter)
|
rs2154161716
|
|
NM_001267550.2(TTN):c.85809del (p.Lys28603fs)
|
rs796983799
|
|
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter)
|
rs200503016
|
|
NM_001267550.2(TTN):c.98990-1G>T
|
rs796111471
|
|
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)
|
rs796052231
|
|
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter)
|
rs121908428
|
|
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)
|
rs797045282
|
|
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)
|
rs1057517732
|
|
NM_001458.5(FLNC):c.4456+1G>A
|
rs1318885805
|
|
NM_001846.4(COL4A2):c.360+2T>C
|
rs2139454253
|
|
NM_004415.4(DSP):c.1670_1671del (p.Ile557fs)
|
rs2113677479
|
|
NM_004415.4(DSP):c.4608_4612del (p.Arg1537fs)
|
rs796620239
|
|
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu)
|
rs1565627304
|
|
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)
|
rs1064795331
|
|
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
|
|
|
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
|
|
|
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)
|
rs878854990
|
|
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg)
|
rs1586393556
|
|
NM_025216.3(WNT10A):c.831G>C (p.Trp277Cys)
|
rs1234227647
|
|
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp)
|
rs1057520538
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
NM_152558.5(IQCE):c.895_904del (p.Val301fs)
|
rs773701437
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|