NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val)
|
rs141542003
|
0.00103
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_006118.4(HAX1):c.91del (p.Glu31fs)
|
rs764082747
|
0.00026
|
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)
|
rs776913277
|
0.00022
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00007
|
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val)
|
rs770199817
|
0.00007
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser)
|
rs763296857
|
0.00003
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
0.00003
|
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)
|
rs763112609
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)
|
rs34126013
|
0.00002
|
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)
|
rs387906952
|
0.00001
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)
|
rs1432807966
|
0.00001
|
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys)
|
rs769744438
|
0.00001
|
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)
|
rs121918594
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)
|
rs777219451
|
0.00001
|
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter)
|
rs755978559
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_130810.4(DNAAF4):c.733C>T (p.Arg245Ter)
|
rs748440695
|
0.00001
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter)
|
rs112371422
|
|
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn)
|
rs1601054715
|
|
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys)
|
rs119103290
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000388.4(CASR):c.679C>T (p.Arg227Ter)
|
rs1085307984
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser)
|
rs201552310
|
|
NM_000516.7(GNAS):c.494G>A (p.Arg165His)
|
rs2090976265
|
|
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)
|
rs1601162438
|
|
NM_000540.3(RYR1):c.4435C>T (p.Gln1479Ter)
|
rs1968813234
|
|
NM_000546.6(TP53):c.751A>C (p.Ile251Leu)
|
rs730882007
|
|
NM_000551.4(VHL):c.449del (p.Asn150fs)
|
rs794727253
|
|
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)
|
rs398123483
|
|
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr)
|
rs587776937
|
|
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter)
|
rs879253931
|
|
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)
|
rs796053361
|
|
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu)
|
rs886041309
|
|
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln)
|
rs886041767
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
|
|
|
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)
|
rs12131800
|
|
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys)
|
rs797045164
|
|
NM_001282531.3(ADNP):c.3069_3072del (p.Arg1023fs)
|
rs1279657093
|
|
NM_001303052.2(MYT1L):c.1975C>T (p.Arg659Ter)
|
rs745333246
|
|
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)
|
rs121907922
|
|
NM_001372044.2(SHANK3):c.5197C>T (p.Arg1733Ter)
|
rs2083361357
|
|
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)
|
rs387906738
|
|
NM_001384474.1(LOXHD1):c.1475G>A (p.Trp492Ter)
|
rs2038190712
|
|
NM_001605.3(AARS1):c.986G>A (p.Arg329His)
|
rs267606621
|
|
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser)
|
rs1939189846
|
|
NM_001844.5(COL2A1):c.3590G>C (p.Gly1197Ala)
|
rs1938686073
|
|
NM_002381.5(MATN3):c.359C>T (p.Thr120Met)
|
rs397515546
|
|
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys)
|
rs1555185875
|
|
NM_004369.4(COL6A3):c.761del (p.Gly254fs)
|
rs780921503
|
|
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)
|
rs864321716
|
|
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn)
|
rs483352809
|
|
NM_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn)
|
rs1064793349
|
|
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys)
|
rs1131691283
|
|
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)
|
rs483352822
|
|
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs)
|
rs756131136
|
|
NM_007289.4(MME):c.467del (p.Pro156fs)
|
rs749320057
|
|
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs)
|
rs80357567
|
|
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
|
rs397509243
|
|
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs)
|
rs886039477
|
|
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)
|
rs267606962
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)
|
rs397515442
|
|
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)
|
|
|
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His)
|
rs587784024
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)
|
rs397514513
|
|