NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)
|
rs142609245
|
0.00116
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)
|
rs150259543
|
0.00073
|
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)
|
rs763672163
|
0.00071
|
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)
|
rs137891647
|
0.00047
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg)
|
rs140076803
|
0.00036
|
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)
|
rs201337954
|
0.00031
|
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro)
|
rs200530055
|
0.00029
|
NM_004482.4(GALNT3):c.16C>T (p.Arg6Ter)
|
rs376963628
|
0.00029
|
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His)
|
rs146292819
|
0.00029
|
NM_001930.4(DHPS):c.1014+1G>A
|
rs142633494
|
0.00028
|
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)
|
rs141949212
|
0.00021
|
NM_002016.2(FLG):c.94G>T (p.Glu32Ter)
|
rs114733570
|
0.00021
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)
|
rs193186112
|
0.00014
|
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs)
|
rs746636748
|
0.00013
|
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)
|
rs61752334
|
0.00011
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp)
|
rs757369063
|
0.00007
|
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)
|
rs559088058
|
0.00006
|
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter)
|
rs145191476
|
0.00006
|
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)
|
rs121908345
|
0.00006
|
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg)
|
rs147391618
|
0.00006
|
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)
|
rs146960401
|
0.00006
|
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg)
|
rs121912980
|
0.00005
|
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)
|
rs80338859
|
0.00005
|
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys)
|
rs374322839
|
0.00005
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_001195518.2(MICU1):c.161+1G>A
|
rs375502236
|
0.00004
|
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys)
|
rs775426647
|
0.00004
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
0.00004
|
NM_005912.3(MC4R):c.896C>A (p.Pro299His)
|
rs52804924
|
0.00004
|
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp)
|
rs769570290
|
0.00004
|
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr)
|
rs372993798
|
0.00004
|
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)
|
rs200293302
|
0.00004
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His)
|
rs281864919
|
0.00003
|
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)
|
rs397507525
|
0.00003
|
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)
|
rs143747297
|
0.00003
|
NM_014804.3(KIAA0753):c.2656C>T (p.Arg886Ter)
|
rs370840009
|
0.00003
|
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)
|
rs762811727
|
0.00003
|
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)
|
rs770311534
|
0.00002
|
NM_000426.4(LAMA2):c.5562+5G>C
|
rs771046502
|
0.00002
|
NM_000426.4(LAMA2):c.6429+1G>T
|
rs1262029350
|
0.00002
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)
|
rs267606708
|
0.00002
|
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn)
|
rs550855238
|
0.00002
|
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)
|
rs765284825
|
0.00001
|
NM_000297.4(PKD2):c.1319+1G>A
|
rs1131692280
|
0.00001
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs)
|
rs967826828
|
0.00001
|
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)
|
rs1255744452
|
0.00001
|
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)
|
rs781252161
|
0.00001
|
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter)
|
rs148069173
|
0.00001
|
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter)
|
rs1558498928
|
0.00001
|
NM_014712.3(SETD1A):c.2737C>T (p.Arg913Cys)
|
rs2056165149
|
0.00001
|
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)
|
rs199422194
|
0.00001
|
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)
|
rs104894060
|
0.00001
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)
|
rs933746831
|
0.00001
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe)
|
rs1085307410
|
|
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)
|
rs864622290
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000071.3(CBS):c.429C>G (p.Ile143Met)
|
rs370167302
|
|
NM_000085.5(CLCNKB):c.376del (p.Glu125_Val126insTer)
|
rs2023146719
|
|
NM_000088.4(COL1A1):c.958-1G>A
|
rs72645352
|
|
NM_000092.5(COL4A4):c.4082-1G>T
|
rs1559438651
|
|
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser)
|
rs267606845
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile)
|
rs199473018
|
|
NM_000271.5(NPC1):c.67del (p.Gln23fs)
|
rs886043131
|
|
NM_000277.3(PAH):c.842C>A (p.Pro281His)
|
rs5030851
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)
|
rs759202962
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)
|
rs879254524
|
|
NM_000550.3(TYRP1):c.1103del (p.Lys368fs)
|
rs387906560
|
|
NM_000944.5(PPP3CA):c.843C>G (p.His281Gln)
|
rs199706529
|
|
NM_001042492.3(NF1):c.1658A>C (p.His553Pro)
|
rs1064794274
|
|
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu)
|
rs1555618675
|
|
NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter)
|
rs1060500333
|
|
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter)
|
rs1555349209
|
|
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)
|
rs863223538
|
|
NM_001126108.2(SLC12A3):c.852+1G>A
|
rs2055084531
|
|
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)
|
rs2058057299
|
|
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met)
|
rs1057521920
|
|
NM_001164508.2(NEB):c.18228_18229insCC (p.Arg6077fs)
|
|
|
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)
|
rs752472169
|
|
NM_001177316.2(SLC34A3):c.925+20_926-48del
|
rs1554784044
|
|
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly)
|
rs1670355281
|
|
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)
|
rs387906653
|
|
NM_001351169.2(NT5C2):c.312_313del (p.Leu105fs)
|
rs763305896
|
|
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs)
|
rs745420974
|
|
NM_001399.5(EDA):c.706+1G>A
|
rs886039344
|
|
NM_001561.6(TNFRSF9):c.573del (p.Ala193fs)
|
rs1639761448
|
|
NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe)
|
rs1057521655
|
|
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer)
|
rs578184315
|
|
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter)
|
rs2098614719
|
|
NM_002474.3(MYH11):c.1069_1082del (p.Gly357fs)
|
rs1235801428
|
|
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)
|
rs397507507
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
NM_003922.4(HERC1):c.6586C>T (p.Arg2196Ter)
|
rs774206954
|
|
NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)
|
|
|
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter)
|
rs370032584
|
|
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg)
|
rs397516904
|
|
NM_005639.3(SYT1):c.926C>T (p.Ser309Phe)
|
rs2136007588
|
|
NM_006218.4(PIK3CA):c.1345C>A (p.Pro449Thr)
|
rs1724674149
|
|
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro)
|
rs200018596
|
|
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)
|
rs61736587
|
|
NM_012179.4(FBXO7):c.1033C>T (p.Arg345Ter)
|
|
|
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del)
|
rs1402092579
|
|
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)
|
rs2033536147
|
|
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)
|
rs1673582111
|
|
NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly)
|
rs1553318223
|
|
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs)
|
rs748735420
|
|
NM_016580.4(PCDH12):c.309del (p.Cys104fs)
|
rs1753206427
|
|
NM_018255.4(ELP2):c.293dup (p.Leu98fs)
|
rs529659464
|
|
NM_019616.4(F7):c.1325del (p.Pro442fs)
|
rs750457207
|
|
NM_020987.5(ANK3):c.4365_4368del (p.Arg1456fs)
|
rs2084966849
|
|
NM_021224.6(ZNF462):c.4180del (p.Trp1394fs)
|
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg)
|
rs2066342176
|
|
NM_033380.3(COL4A5):c.2294del (p.Pro765fs)
|
rs2066735315
|
|
NM_057175.5(NAA15):c.1841dup (p.Asn614fs)
|
rs1283385686
|
|
NM_152594.3(SPRED1):c.867dup (p.Ser290fs)
|
|
|
NM_176806.4(MOCS2):c.-8_15del (p.Met1fs)
|
rs397518417
|
|