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_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe)
|
rs72653756
|
0.00214
|
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_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
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_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
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_020320.5(RARS2):c.773G>A (p.Arg258His)
|
rs145297855
|
0.00044
|
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_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
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_003235.5(TG):c.4378G>A (p.Val1460Ile)
|
rs199615848
|
0.00019
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_001085487.3(MYSM1):c.219-1G>A
|
rs201886018
|
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_022787.4(NMNAT1):c.293T>G (p.Val98Gly)
|
rs771336246
|
0.00011
|
NM_013328.4(PYCR2):c.676C>T (p.Gln226Ter)
|
rs201784173
|
0.00010
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_000429.3(MAT1A):c.527T>A (p.Leu176Gln)
|
rs769846362
|
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_000550.3(TYRP1):c.859C>T (p.Arg287Ter)
|
rs1435975707
|
0.00004
|
NM_001098672.2(HEPHL1):c.2857C>T (p.Arg953Ter)
|
rs542337286
|
0.00004
|
NM_001195518.2(MICU1):c.161+1G>A
|
rs375502236
|
0.00004
|
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter)
|
rs780960812
|
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_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter)
|
rs926347298
|
0.00004
|
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp)
|
rs769570290
|
0.00004
|
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)
|
rs144495588
|
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_194248.3(OTOF):c.149G>A (p.Trp50Ter)
|
rs202086317
|
0.00004
|
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
|
rs765648513
|
0.00004
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)
|
rs774843953
|
0.00003
|
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His)
|
rs281864919
|
0.00003
|
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)
|
rs121909523
|
0.00003
|
NM_002340.6(LSS):c.1194+5G>A
|
rs748758448
|
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_017807.4(OSGEP):c.319G>A (p.Val107Met)
|
rs140583554
|
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_000090.4(COL3A1):c.1996G>A (p.Gly666Ser)
|
rs755528878
|
0.00002
|
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
|
rs1278340100
|
0.00002
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)
|
rs758829443
|
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_001244189.2(KIAA0586):c.9+1G>A
|
rs1490434047
|
0.00002
|
NM_001271208.2(NEB):c.17276del (p.Gln5759fs)
|
rs1346554177
|
0.00002
|
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
|
rs760676442
|
0.00002
|
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)
|
rs367610201
|
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_007059.4(KPTN):c.863G>A (p.Arg288Gln)
|
rs772378754
|
0.00002
|
NM_016356.5(DCDC2):c.942del (p.Gly315fs)
|
rs1554144869
|
0.00002
|
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys)
|
rs553547069
|
0.00002
|
NM_053274.3(GLMN):c.1141-1G>A
|
rs1375310236
|
0.00002
|
NM_153676.4(USH1C):c.310G>C (p.Gly104Arg)
|
rs1387867750
|
0.00002
|
NM_206933.4(USH2A):c.5857+2T>C
|
rs397518022
|
0.00002
|
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn)
|
rs550855238
|
0.00002
|
NM_000047.3(ARSL):c.109C>T (p.Arg37Ter)
|
rs754885040
|
0.00001
|
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro)
|
rs1023099235
|
0.00001
|
NM_000153.4(GALC):c.583-6T>A
|
rs398123176
|
0.00001
|
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)
|
rs199472720
|
0.00001
|
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)
|
rs765284825
|
0.00001
|
NM_000297.4(PKD2):c.1319+1G>A
|
rs1131692280
|
0.00001
|
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg)
|
rs971604271
|
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_001041.4(SI):c.3266G>A (p.Trp1089Ter)
|
rs774109373
|
0.00001
|
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)
|
rs199474728
|
0.00001
|
NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter)
|
rs724159969
|
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_001510.4(GRID2):c.1913G>A (p.Trp638Ter)
|
rs1470494014
|
0.00001
|
NM_001999.4(FBN2):c.3982G>T (p.Glu1328Ter)
|
rs1750792951
|
0.00001
|
NM_002860.4(ALDH18A1):c.88+1G>A
|
rs556267618
|
0.00001
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
NM_004187.5(KDM5C):c.322C>T (p.Arg108Trp)
|
rs146232504
|
0.00001
|
NM_004446.3(EPRS1):c.3832C>T (p.Arg1278Ter)
|
rs765537459
|
0.00001
|
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His)
|
rs1023010218
|
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_007325.5(GRIA3):c.1348C>T (p.Arg450Ter)
|
rs183018401
|
0.00001
|
NM_014712.3(SETD1A):c.2737C>T (p.Arg913Cys)
|
rs2056165149
|
0.00001
|
NM_015338.6(ASXL1):c.1015C>T (p.Gln339Ter)
|
rs2011567269
|
0.00001
|
NM_016035.5(COQ4):c.300-2A>G
|
rs141303335
|
0.00001
|
NM_017807.4(OSGEP):c.556C>T (p.Arg186Ter)
|
rs140696201
|
0.00001
|
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)
|
rs199422194
|
0.00001
|
NM_018489.3(ASH1L):c.5269C>T (p.Arg1757Ter)
|
rs1662320308
|
0.00001
|
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)
|
rs104894060
|
0.00001
|
NM_020812.4(DOCK6):c.4203+2T>C
|
rs1169546944
|
0.00001
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
NM_022552.5(DNMT3A):c.875T>C (p.Ile292Thr)
|
rs777306476
|
0.00001
|
NM_022786.3(ARV1):c.175-2A>G
|
rs1294383261
|
0.00001
|
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)
|
rs878855095
|
0.00001
|
NM_025077.4(TOE1):c.544C>T (p.Arg182Ter)
|
rs752569685
|
0.00001
|
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)
|
rs933746831
|
0.00001
|
NM_198525.3(KIF7):c.1561-1G>A
|
rs763238645
|
0.00001
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe)
|
rs1085307410
|
|
NM_000033.4(ABCD1):c.1500dup (p.Met501fs)
|
|
|
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_000059.4(BRCA2):c.1002_1003dup (p.Glu335fs)
|
|
|
NM_000062.3(SERPING1):c.979_980delinsGTGCC (p.Ser327delinsValPro)
|
rs1945411643
|
|
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.3871_3883delinsGT (p.Cys1291fs)
|
rs2144534853
|
|
NM_000088.4(COL1A1):c.958-1G>A
|
rs72645352
|
|
NM_000092.5(COL4A4):c.4082-1G>T
|
rs1559438651
|
|
NM_000092.5(COL4A4):c.4349_4366del (p.Ile1450_Pro1455del)
|
rs2149745228
|
|
NM_000133.4(F9):c.950C>T (p.Ala317Val)
|
rs2148367725
|
|
NM_000138.5(FBN1):c.6315G>T (p.Glu2105Asp)
|
|
|
NM_000138.5(FBN1):c.6801C>A (p.Asn2267Lys)
|
rs886051245
|
|
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys)
|
rs1434545235
|
|
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser)
|
rs267606845
|
|
NM_000170.3(GLDC):c.2259C>G (p.His753Gln)
|
rs2129719894
|
|
NM_000170.3(GLDC):c.989A>G (p.His330Arg)
|
rs1267445922
|
|
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly)
|
rs2089304297
|
|
NM_000208.4(INSR):c.1573C>T (p.Arg525Ter)
|
rs1599937180
|
|
NM_000214.3(JAG1):c.235C>T (p.Leu79Phe)
|
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile)
|
rs199473018
|
|
NM_000263.4(NAGLU):c.30_31insATCATATT (p.Gly11fs)
|
rs2092905757
|
|
NM_000271.5(NPC1):c.67del (p.Gln23fs)
|
rs886043131
|
|
NM_000277.3(PAH):c.842C>A (p.Pro281His)
|
rs5030851
|
|
NM_000303.3(PMM2):c.26G>T (p.Cys9Phe)
|
|
|
NM_000307.5(POU3F4):c.119dup (p.Ser40fs)
|
|
|
NM_000335.5(SCN5A):c.703+1G>C
|
rs2125914209
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000369.5(TSHR):c.1207G>A (p.Asp403Asn)
|
|
|
NM_000384.3(APOB):c.11040T>G (p.Tyr3680Ter)
|
rs1663118269
|
|
NM_000384.3(APOB):c.7659G>A (p.Trp2553Ter)
|
|
|
NM_000388.4(CASR):c.664G>A (p.Gly222Arg)
|
rs2107632066
|
|
NM_000404.4(GLB1):c.1347+1G>A
|
|
|
NM_000414.4(HSD17B4):c.1121del (p.Leu374fs)
|
rs2126781231
|
|
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)
|
rs111033305
|
|
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)
|
rs759202962
|
|
NM_000463.3(UGT1A1):c.1060T>G (p.Trp354Gly)
|
|
|
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup)
|
rs748476974
|
|
NM_000478.6(ALPL):c.1360C>T (p.His454Tyr)
|
rs2148194615
|
|
NM_000489.6(ATRX):c.671C>T (p.Ala224Val)
|
|
|
NM_000503.6(EYA1):c.682_686dup (p.Tyr230fs)
|
rs2128999992
|
|
NM_000516.7(GNAS):c.124dup (p.Arg42fs)
|
rs2145916852
|
|
NM_000516.7(GNAS):c.212+1_212+3del
|
rs2146006354
|
|
NM_000525.4(KCNJ11):c.160dup (p.Arg54fs)
|
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)
|
rs879254524
|
|
NM_000531.6(OTC):c.618G>T (p.Met206Ile)
|
|
|
NM_000548.5(TSC2):c.5228G>T (p.Arg1743Leu)
|
rs45507199
|
|
NM_000550.3(TYRP1):c.1103del (p.Lys368fs)
|
rs387906560
|
|
NM_000552.5(VWF):c.5293G>T (p.Gly1765Ter)
|
rs1268910016
|
|
NM_000642.3(AGL):c.4249_4250del (p.Leu1417fs)
|
|
|
NM_000642.3(AGL):c.4562C>T (p.Ser1521Leu)
|
|
|
NM_000702.4(ATP1A2):c.2809C>T (p.Arg937Cys)
|
rs1558009266
|
|
NM_000719.7(CACNA1C):c.2460+2T>G
|
|
|
NM_000834.5(GRIN2B):c.1308C>A (p.Cys436Ter)
|
|
|
NM_000901.5(NR3C2):c.2771T>C (p.Leu924Pro)
|
rs121912563
|
|
NM_000937.5(POLR2A):c.3700A>G (p.Lys1234Glu)
|
rs2150887735
|
|
NM_000937.5(POLR2A):c.742A>T (p.Met248Leu)
|
|
|
NM_000944.5(PPP3CA):c.843C>G (p.His281Gln)
|
rs199706529
|
|
NM_001005273.3(CHD3):c.2798_2799del (p.Arg933fs)
|
|
|
NM_001005273.3(CHD3):c.2975A>G (p.Gln992Arg)
|
|
|
NM_001009944.3(PKD1):c.2877_2880del (p.Gly960fs)
|
rs2151809215
|
|
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu)
|
rs2092438025
|
|
NM_001031689.3(PLAA):c.1570C>T (p.Arg524Ter)
|
|
|
NM_001031710.3(KLHL7):c.562A>T (p.Lys188Ter)
|
rs2128464395
|
|
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp)
|
rs886038888
|
|
NM_001035.3(RYR2):c.727G>T (p.Glu243Ter)
|
|
|
NM_001037333.3(CYFIP2):c.887A>T (p.Asp296Val)
|
|
|
NM_001040616.3(LINS1):c.431del (p.Leu144fs)
|
rs764442764
|
|
NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe)
|
rs1135402816
|
|
NM_001042492.3(NF1):c.1658A>C (p.His553Pro)
|
rs1064794274
|
|
NM_001042492.3(NF1):c.2964dup (p.Glu989Ter)
|
rs2067084803
|
|
NM_001042492.3(NF1):c.3568G>A (p.Gly1190Ser)
|
rs1597719982
|
|
NM_001042492.3(NF1):c.3796_3797del (p.Glu1266fs)
|
rs2151437911
|
|
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu)
|
rs1555618675
|
|
NM_001042492.3(NF1):c.4611_4612del (p.Asp1537fs)
|
|
|
NM_001042492.3(NF1):c.7666dup (p.Arg2556fs)
|
rs2151581134
|
|
NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter)
|
rs1060500333
|
|
NM_001070.5(TUBG1):c.725C>T (p.Thr242Ile)
|
|
|
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter)
|
rs1555349209
|
|
NM_001079872.2(CUL4B):c.181_182del (p.Thr61fs)
|
|
|
NM_001080424.2(KDM6B):c.4933_4976dup (p.Pro1661fs)
|
rs2151380462
|
|
NM_001080453.3(INTS1):c.1855G>T (p.Glu619Ter)
|
rs1456894020
|
|
NM_001083116.3(PRF1):c.963del (p.Glu323fs)
|
rs2132476029
|
|
NM_001083619.3(GRIA2):c.1667G>A (p.Gly556Glu)
|
|
|
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter)
|
rs371410845
|
|
NM_001101426.4(CRPPA):c.789G>A (p.Lys263=)
|
|
|
NM_001110556.2(FLNA):c.7732T>C (p.Phe2578Leu)
|
|
|
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)
|
rs863223538
|
|
NM_001114753.3(ENG):c.1687-1G>A
|
rs1554809106
|
|
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_001127222.2(CACNA1A):c.815G>A (p.Cys272Tyr)
|
rs771682941
|
|
NM_001127898.4(CLCN5):c.1014+1G>A
|
rs2147594243
|
|
NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter)
|
rs2131030804
|
|
NM_001130438.3(SPTAN1):c.840dup (p.Asp281Ter)
|
rs2131011877
|
|
NM_001134382.3(IQSEC1):c.1470dup (p.Tyr491fs)
|
rs2125304158
|
|
NM_001136035.4(TRMT1):c.35del (p.Phe12fs)
|
|
|
NM_001142800.2(EYS):c.5644+1G>A
|
|
|
NM_001142864.4(PIEZO1):c.4341del (p.Tyr1448fs)
|
|
|
NM_001162501.2(TNRC6B):c.4921_4922insCC (p.Gly1641fs)
|
|
|
NM_001162501.2(TNRC6B):c.4974+2T>C
|
rs2146570387
|
|
NM_001163435.3(TBCK):c.2044_2048del (p.Phe682fs)
|
rs778000956
|
|
NM_001164508.2(NEB):c.18228_18229insCC (p.Arg6077fs)
|
|
|
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)
|
rs1085307730
|
|
NM_001170629.2(CHD8):c.5326C>T (p.Arg1776Ter)
|
rs1085307794
|
|
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys)
|
rs1223371144
|
|
NM_001174147.2(LMX1B):c.722del (p.Ser241fs)
|
|
|
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_001195263.2(PDZD7):c.2089del (p.Ala697fs)
|
rs1055318738
|
|
NM_001195553.2(DCX):c.799del (p.Asp267fs)
|
rs2147635206
|
|
NM_001204.7(BMPR2):c.1285_1286insGATTG (p.Val429fs)
|
|
|
NM_001204077.2(UBE4A):c.217C>T (p.Arg73Ter)
|
|
|
NM_001205293.3(CACNA1E):c.1090C>T (p.Arg364Ter)
|
|
|
NM_001256627.2(BRSK2):c.1668G>A (p.Ser556=)
|
|
|
NM_001256864.2(DNAJC6):c.49G>T (p.Glu17Ter)
|
rs1219237924
|
|
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)
|
rs387906653
|
|
NM_001270.4(CHD1):c.1978A>G (p.Ile660Val)
|
|
|
NM_001271938.2(MEGF8):c.3931G>T (p.Glu1311Ter)
|
|
|
NM_001276345.2(TNNT2):c.295-1G>C
|
|
|
NM_001282116.2(RFX3):c.973+3A>G
|
|
|
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His)
|
rs867543866
|
|
NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys)
|
rs2142378398
|
|
NM_001287491.2(TET3):c.3343C>G (p.Leu1115Val)
|
rs2104198321
|
|
NM_001287491.2(TET3):c.5062C>G (p.Arg1688Gly)
|
rs2104233612
|
|
NM_001291303.3(FAT4):c.6982G>T (p.Glu2328Ter)
|
|
|
NM_001291415.2(KDM6A):c.565-401A>G
|
|
|
NM_001303052.2(MYT1L):c.1543G>A (p.Gly515Ser)
|
|
|
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys)
|
rs2040817364
|
|
NM_001308120.2(TOGARAM1):c.4150C>T (p.Gln1384Ter)
|
|
|
NM_001329943.3(KIAA0586):c.1957C>T (p.Gln653Ter)
|
rs2140886548
|
|
NM_001330260.2(SCN8A):c.2824_2825insA (p.Trp942Ter)
|
rs2138863024
|
|
NM_001330260.2(SCN8A):c.4044G>C (p.Leu1348Phe)
|
|
|
NM_001330288.2(SMARCC2):c.805C>T (p.Arg269Ter)
|
rs2135734683
|
|
NM_001347721.2(DYRK1A):c.1009T>C (p.Ser337Pro)
|
rs724159951
|
|
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn)
|
rs724159955
|
|
NM_001348323.3(TRIP12):c.2996A>T (p.Glu999Val)
|
rs2154270375
|
|
NM_001348323.3(TRIP12):c.5259_5276delinsAAATGATATG (p.Leu1754fs)
|
rs2154245501
|
|
NM_001349338.3(FOXP1):c.1451del (p.Lys484fs)
|
|
|
NM_001349798.2(FBXW7):c.1315A>G (p.Thr439Ala)
|
|
|
NM_001351169.2(NT5C2):c.312_313del (p.Leu105fs)
|
rs763305896
|
|
NM_001353345.2(SETD1B):c.2158del (p.His720fs)
|
|
|
NM_001353345.2(SETD1B):c.2943del (p.Arg982fs)
|
|
|
NM_001356.5(DDX3X):c.1155del (p.Pro386fs)
|
|
|
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)
|
rs121909764
|
|
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His)
|
rs1173707321
|
|
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del)
|
rs746200792
|
|
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs)
|
rs745420974
|
|
NM_001366521.1(ATP2B1):c.406+1G>A
|
|
|
NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro)
|
rs397514627
|
|
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs)
|
rs886044697
|
|
NM_001367873.1(SOX6):c.535G>A (p.Gly179Ser)
|
|
|
NM_001371623.1(TCOF1):c.1916del (p.Pro639fs)
|
rs2150732608
|
|
NM_001372044.2(SHANK3):c.646C>G (p.Pro216Ala)
|
rs397514705
|
|
NM_001374828.1(ARID1B):c.2742_2750delinsAC (p.Met914fs)
|
|
|
NM_001376.5(DYNC1H1):c.4053G>A (p.Trp1351Ter)
|
|
|
NM_001376.5(DYNC1H1):c.9547dup (p.Tyr3183fs)
|
rs2152590132
|
|
NM_001376571.1(MADD):c.1291-2A>G
|
rs756420276
|
|
NM_001376571.1(MADD):c.310C>T (p.Arg104Ter)
|
rs766120355
|
|
NM_001378120.1(MBD5):c.1438C>T (p.Gln480Ter)
|
|
|
NM_001378418.1(TCF20):c.2512_2515del (p.Asp838fs)
|
rs1601598682
|
|
NM_001378418.1(TCF20):c.4943del (p.Thr1648fs)
|
rs1569143903
|
|
NM_001378418.1(TCF20):c.731C>T (p.Ser244Phe)
|
|
|
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs)
|
rs386833765
|
|
NM_001378778.1(MPDZ):c.1445T>A (p.Leu482Ter)
|
|
|
NM_001378778.1(MPDZ):c.409_410delinsC (p.Val137fs)
|
|
|
NM_001379403.1(WDR26):c.1082A>G (p.His361Arg)
|
|
|
NM_001382637.1(OTUD7A):c.893+1del
|
|
|
NM_001384125.1(BLTP1):c.1752+2T>G
|
|
|
NM_001384732.1(CPLANE1):c.49A>T (p.Lys17Ter)
|
rs2150867081
|
|
NM_001386135.1(AFF3):c.713T>C (p.Met238Thr)
|
rs1682014084
|
|
NM_001386298.1(CIC):c.1582C>T (p.Arg528Ter)
|
rs2147018633
|
|
NM_001393769.1(MED12L):c.3664+1G>A
|
|
|
NM_001394998.1(TANC2):c.3528_3536delinsAGCAGGGCCGCAGACAAGCAGGGCCGCAAGCAGACAA (p.Pro1177fs)
|
rs2048501596
|
|
NM_001394998.1(TANC2):c.587C>G (p.Ser196Ter)
|
|
|
NM_001399.5(EDA):c.706+1G>A
|
rs886039344
|
|
NM_001399.5(EDA):c.798T>C (p.Leu266=)
|
rs2147516257
|
|
NM_001561.6(TNFRSF9):c.573del (p.Ala193fs)
|
rs1639761448
|
|
NM_001613.4(ACTA2):c.325del (p.Glu109fs)
|
rs2133261333
|
|
NM_001613.4(ACTA2):c.352C>T (p.Arg118Trp)
|
rs1845899655
|
|
NM_001694.4(ATP6V0C):c.404T>C (p.Leu135Pro)
|
|
|
NM_001797.4(CDH11):c.778G>C (p.Asp260His)
|
|
|
NM_001844.5(COL2A1):c.2625+1del
|
rs2136537220
|
|
NM_001844.5(COL2A1):c.610-2A>G
|
|
|
NM_001845.6(COL4A1):c.2977G>A (p.Gly993Ser)
|
rs2139162416
|
|
NM_001846.4(COL4A2):c.2203+1G>C
|
|
|
NM_001846.4(COL4A2):c.274G>T (p.Glu92Ter)
|
|
|
NM_001849.4(COL6A2):c.1021C>A (p.Pro341Thr)
|
|
|
NM_001904.4(CTNNB1):c.1690dup (p.Val564fs)
|
|
|
NM_001913.5(CUX1):c.1813dup (p.Leu605fs)
|
|
|
NM_001930.4(DHPS):c.216_217dup (p.Lys73fs)
|
rs765706154
|
|
NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe)
|
rs1057521655
|
|
NM_002016.2(FLG):c.2933C>A (p.Ser978Ter)
|
rs575855434
|
|
NM_002016.2(FLG):c.4925_4928del (p.Ser1642fs)
|
rs2101646027
|
|
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer)
|
rs578184315
|
|
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter)
|
rs2098614719
|
|
NM_002397.5(MEF2C):c.134T>C (p.Leu45Pro)
|
|
|
NM_002448.3(MSX1):c.250G>T (p.Glu84Ter)
|
|
|
NM_002471.4(MYH6):c.1223G>A (p.Gly408Asp)
|
|
|
NM_002474.3(MYH11):c.1069_1082del (p.Gly357fs)
|
rs1235801428
|
|
NM_002474.3(MYH11):c.2380C>T (p.Gln794Ter)
|
rs2151259960
|
|
NM_002480.3(PPP1R12A):c.1567C>T (p.Arg523Ter)
|
rs761795743
|
|
NM_002585.4(PBX1):c.608_619del (p.Ile203_Arg206del)
|
|
|
NM_002693.3(POLG):c.2287G>A (p.Gly763Arg)
|
|
|
NM_002693.3(POLG):c.2981+2T>G
|
rs775260762
|
|
NM_002693.3(POLG):c.624C>A (p.Cys208Ter)
|
rs1159974816
|
|
NM_002715.4(PPP2CA):c.133G>A (p.Val45Met)
|
rs1393362032
|
|
NM_002834.5(PTPN11):c.1187A>G (p.Tyr396Cys)
|
|
|
NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu)
|
rs397507536
|
|
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)
|
rs397507507
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
NM_002887.4(RARS1):c.175C>T (p.Arg59Ter)
|
rs749027104
|
|
NM_002941.4(ROBO1):c.2440_2442+4del
|
|
|
NM_002971.6(SATB1):c.923dup (p.Ser309fs)
|
|
|
NM_002979.5(SCP2):c.588dup
|
|
|
NM_003011.4(SET):c.138dup (p.Glu47Ter)
|
|
|
NM_003024.3(ITSN1):c.2772G>A (p.Trp924Ter)
|
|
|
NM_003042.4(SLC6A1):c.281G>A (p.Gly94Glu)
|
rs1553688015
|
|
NM_003042.4(SLC6A1):c.855G>A (p.Trp285Ter)
|
rs2124924957
|
|
NM_003051.4(SLC16A1):c.747_750del (p.Asn250fs)
|
rs606231311
|
|
NM_003052.5(SLC34A1):c.504dup (p.Ile169fs)
|
|
|
NM_003221.4(TFAP2B):c.707G>A (p.Arg236His)
|
rs1325125531
|
|
NM_003239.5(TGFB3):c.884del (p.Gly295fs)
|
|
|
NM_003403.5(YY1):c.690dup (p.Asp231fs)
|
rs759536629
|
|
NM_003470.3(USP7):c.3281T>G (p.Leu1094Arg)
|
rs2141156206
|
|
NM_003588.4(CUL4B):c.2493G>A (p.Thr831=)
|
rs2147321510
|
|
NM_003611.3(OFD1):c.1485del (p.Glu496fs)
|
rs2047765952
|
|
NM_003619.4(PRSS12):c.441_442del (p.Trp148fs)
|
rs760638778
|
|
NM_003620.4(PPM1D):c.1412del (p.Pro471fs)
|
rs780195897
|
|
NM_003620.4(PPM1D):c.1606del (p.Arg536fs)
|
rs2031564242
|
|
NM_003922.4(HERC1):c.6586C>T (p.Arg2196Ter)
|
rs774206954
|
|
NM_004004.6(GJB2):c.136G>C (p.Asp46His)
|
rs1064797088
|
|
NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)
|
|
|
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter)
|
rs370032584
|
|
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu)
|
rs2030801584
|
|
NM_004268.5(MED17):c.1299_1302del (p.Ala435fs)
|
rs763249105
|
|
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg)
|
rs397516904
|
|
NM_004341.5(CAD):c.4810C>T (p.Gln1604Ter)
|
rs1676113645
|
|
NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter)
|
rs2151354104
|
|
NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr)
|
rs1567263529
|
|
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5961_5981delinsGCAT (p.Met1988fs)
|
rs2151306905
|
|
NM_004397.6(DDX6):c.1187G>A (p.Arg396Gln)
|
rs1860933779
|
|
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs)
|
rs1394836623
|
|
NM_004434.3(EML1):c.136C>T (p.Gln46Ter)
|
|
|
NM_004586.3(RPS6KA3):c.1679G>A (p.Cys560Tyr)
|
|
|
NM_004586.3(RPS6KA3):c.212dup (p.Leu71fs)
|
rs2148732123
|
|
NM_004606.5(TAF1):c.4286A>C (p.Gln1429Pro)
|
rs2148488146
|
|
NM_004655.4(AXIN2):c.2045dup (p.Asp682fs)
|
|
|
NM_004699.4(FAM50A):c.764A>G (p.Asp255Gly)
|
rs2068797192
|
|
NM_004713.6(NEMF):c.2096-2A>G
|
rs2139857246
|
|
NM_004722.4(AP4M1):c.930-1G>C
|
|
|
NM_004789.4(LHX2):c.182_187delinsACCT (p.Ser61fs)
|
|
|
NM_004859.4(CLTC):c.2096_2099del (p.Ile699fs)
|
|
|
NM_004974.4(KCNA2):c.585dup (p.His196fs)
|
|
|
NM_004985.5(KRAS):c.229G>T (p.Gly77Cys)
|
rs2141509652
|
|
NM_004999.4(MYO6):c.2416+2T>C
|
|
|
NM_005045.4(RELN):c.7120G>T (p.Glu2374Ter)
|
|
|
NM_005045.4(RELN):c.9455G>A (p.Trp3152Ter)
|
|
|
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn)
|
rs267606706
|
|
NM_005215.4(DCC):c.2034_2038del (p.Asn678fs)
|
|
|
NM_005215.4(DCC):c.2551C>T (p.Gln851Ter)
|
|
|
NM_005359.6(SMAD4):c.50_51del (p.Leu17fs)
|
|
|
NM_005359.6(SMAD4):c.875del (p.Pro292fs)
|
|
|
NM_005378.6(MYCN):c.403C>T (p.Gln135Ter)
|
|
|
NM_005378.6(MYCN):c.727C>T (p.Gln243Ter)
|
|
|
NM_005378.6(MYCN):c.963dup (p.Arg322fs)
|
rs2103330798
|
|
NM_005392.4(PHF2):c.2749C>T (p.Gln917Ter)
|
rs1826897308
|
|
NM_005445.4(SMC3):c.1343dup (p.Glu449fs)
|
rs2134735614
|
|
NM_005445.4(SMC3):c.1812+1G>A
|
rs1861198554
|
|
NM_005477.3(HCN4):c.1061A>G (p.Tyr354Cys)
|
rs2151221183
|
|
NM_005559.4(LAMA1):c.5108dup (p.Glu1704fs)
|
|
|
NM_005559.4(LAMA1):c.5965C>T (p.Gln1989Ter)
|
rs2144047886
|
|
NM_005618.4(DLL1):c.1443del (p.Val482fs)
|
|
|
NM_005618.4(DLL1):c.1574dup (p.Ala528fs)
|
rs2114958269
|
|
NM_005618.4(DLL1):c.76G>T (p.Glu26Ter)
|
rs2114966765
|
|
NM_005629.4(SLC6A8):c.1317_1321del (p.Arg440fs)
|
|
|
NM_005639.3(SYT1):c.926C>T (p.Ser309Phe)
|
rs2136007588
|
|
NM_005650.4(TCF20):c.5521C>A (p.Gln1841Lys)
|
rs2147193882
|
|
NM_005654.6(NR2F1):c.1205_1206del (p.Leu402fs)
|
|
|
NM_005660.3(SLC35A2):c.803C>T (p.Thr268Ile)
|
rs2147486594
|
|
NM_005763.4(AASS):c.2196dup (p.Ala733fs)
|
rs1473312640
|
|
NM_005859.5(PURA):c.350T>C (p.Phe117Ser)
|
rs1763045003
|
|
NM_005902.4(SMAD3):c.808_812delinsAGA (p.Cys270fs)
|
rs2140314299
|
|
NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln)
|
rs2121246284
|
|
NM_006019.4(TCIRG1):c.862_866delinsG (p.Leu288fs)
|
rs1855343916
|
|
NM_006030.4(CACNA2D2):c.1555C>T (p.Gln519Ter)
|
rs1559887808
|
|
NM_006035.4(CDC42BPB):c.2T>C (p.Met1Thr)
|
|
|
NM_006218.4(PIK3CA):c.1345C>A (p.Pro449Thr)
|
rs1724674149
|
|
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro)
|
rs200018596
|
|
NM_006231.4(POLE):c.6398_6407del (p.Val2133fs)
|
rs2138431829
|
|
NM_006245.4(PPP2R5D):c.649T>C (p.Phe217Leu)
|
|
|
NM_006268.5(DPF2):c.1099+2dup
|
rs2137711145
|
|
NM_006295.3(VARS1):c.2821_2825del (p.Asn941fs)
|
rs2151419208
|
|
NM_006303.4(AIMP2):c.72_73del (p.Met24fs)
|
rs1786357576
|
|
NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser)
|
rs1556885810
|
|
NM_006421.5(ARFGEF1):c.209C>G (p.Ser70Ter)
|
|
|
NM_006421.5(ARFGEF1):c.3182del (p.Gly1061fs)
|
|
|
NM_006494.4(ERF):c.939C>A (p.Tyr313Ter)
|
rs1216061173
|
|
NM_006521.6(TFE3):c.556C>T (p.Pro186Ser)
|
|
|
NM_006545.5(NPRL2):c.3G>T (p.Met1Ile)
|
rs1703727528
|
|
NM_006565.4(CTCF):c.721_722del (p.Asn241fs)
|
|
|
NM_006642.5(SDCCAG8):c.1853+2T>C
|
|
|
NM_006662.3(SRCAP):c.7703C>T (p.Ser2568Phe)
|
|
|
NM_006734.4(HIVEP2):c.4655del (p.Pro1552fs)
|
|
|
NM_006734.4(HIVEP2):c.5188-1del
|
|
|
NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)
|
|
|
NM_006766.5(KAT6A):c.4861C>T (p.Gln1621Ter)
|
rs2150855722
|
|
NM_006901.4(MYO9A):c.3001-2A>G
|
rs2143524373
|
|
NM_006922.4(SCN3A):c.4448T>G (p.Ile1483Ser)
|
rs2105636283
|
|
NM_006929.5(SKIC2):c.2203-1G>A
|
|
|
NM_006941.4(SOX10):c.523C>T (p.Pro175Ser)
|
rs1555938395
|
|
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)
|
rs61736587
|
|
NM_007059.4(KPTN):c.863G>C (p.Arg288Pro)
|
|
|
NM_007118.4(TRIO):c.4495del (p.Thr1499fs)
|
rs2152373759
|
|
NM_007118.4(TRIO):c.4649dup (p.Asp1551fs)
|
|
|
NM_007192.4(SUPT16H):c.2077C>T (p.Arg693Ter)
|
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007217.4(PDCD10):c.73_76dup (p.Met26fs)
|
|
|
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs)
|
rs796052862
|
|
NM_007325.5(GRIA3):c.1358G>A (p.Gly453Asp)
|
rs2147384854
|
|
NM_012064.4(MIP):c.559del (p.Arg187fs)
|
|
|
NM_012090.5(MACF1):c.1972C>T (p.Leu658Phe)
|
rs2148401189
|
|
NM_012102.4(RERE):c.70_73dup (p.Lys25fs)
|
rs759541634
|
|
NM_012179.4(FBXO7):c.1033C>T (p.Arg345Ter)
|
|
|
NM_012309.5(SHANK2):c.460C>T (p.Gln154Ter)
|
rs1327654017
|
|
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del)
|
rs1402092579
|
|
NM_013275.6(ANKRD11):c.1009C>T (p.Gln337Ter)
|
rs2151766442
|
|
NM_013275.6(ANKRD11):c.1977del (p.Thr658_Tyr659insTer)
|
rs2151761883
|
|
NM_013275.6(ANKRD11):c.2777del (p.Lys926fs)
|
rs2151758291
|
|
NM_013275.6(ANKRD11):c.3597_3598del (p.Lys1200fs)
|
|
|
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)
|
rs2033536147
|
|
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys)
|
rs2147938135
|
|
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro)
|
rs1554617573
|
|
NM_014112.5(TRPS1):c.2757_2758dup (p.Trp920fs)
|
|
|
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter)
|
rs766777011
|
|
NM_014271.4(IL1RAPL1):c.148C>T (p.Arg50Ter)
|
rs781674023
|
|
NM_014271.4(IL1RAPL1):c.366_379delinsGTAACAAAG (p.Asn122_Met127delinsLysTer)
|
|
|
NM_014305.4(TGDS):c.270_271del (p.Lys91fs)
|
rs727502809
|
|
NM_014319.5(LEMD3):c.1808_1812del (p.Thr603fs)
|
rs2136353868
|
|
NM_014363.6(SACS):c.6186dup (p.Pro2063fs)
|
rs2137611917
|
|
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)
|
rs1673582111
|
|
NM_014780.5(CUL7):c.3368_3369del (p.Arg1123fs)
|
|
|
NM_014806.5(RUSC2):c.910C>T (p.Gln304Ter)
|
rs1821779826
|
|
NM_014855.3(AP5Z1):c.505C>T (p.Gln169Ter)
|
|
|
NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly)
|
rs1553318223
|
|
NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly)
|
rs1553318350
|
|
NM_014991.6(WDFY3):c.9496C>T (p.Arg3166Ter)
|
rs866536893
|
|
NM_015001.3(SPEN):c.1945del (p.Asp649fs)
|
|
|
NM_015015.3(KDM4B):c.2343dup (p.Gly782fs)
|
|
|
NM_015021.3(ZNF292):c.3491C>G (p.Ser1164Ter)
|
|
|
NM_015021.3(ZNF292):c.814G>A (p.Ala272Thr)
|
|
|
NM_015047.3(EMC1):c.2802+2T>C
|
|
|
NM_015125.5(CIC):c.3617del (p.Gln1206fs)
|
rs2147320674
|
|
NM_015202.5(KATNIP):c.4133+1G>A
|
rs2144173006
|
|
NM_015215.4(CAMTA1):c.1521_1528del (p.Met507fs)
|
|
|
NM_015215.4(CAMTA1):c.2452G>T (p.Glu818Ter)
|
|
|
NM_015215.4(CAMTA1):c.2657G>A (p.Gly886Glu)
|
rs2149221544
|
|
NM_015215.4(CAMTA1):c.4687C>T (p.Gln1563Ter)
|
rs2150125399
|
|
NM_015215.4(CAMTA1):c.4744C>T (p.Arg1582Ter)
|
rs2150160606
|
|
NM_015311.3(OBSL1):c.2222C>G (p.Ser741Ter)
|
|
|
NM_015346.4(ZFYVE26):c.2554-1G>C
|
rs760559263
|
|
NM_015465.5(GEMIN5):c.1267C>T (p.Gln423Ter)
|
|
|
NM_015466.4(PTPN23):c.3581_3584del (p.Val1194fs)
|
rs760750644
|
|
NM_015570.4(AUTS2):c.2005-1G>C
|
|
|
NM_015896.4(ZMYND10):c.1248-1G>T
|
|
|
NM_015937.6(PIGT):c.245_246del (p.Leu82fs)
|
rs2145433134
|
|
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs)
|
rs748735420
|
|
NM_016030.6(TRAPPC12):c.1164+1G>T
|
|
|
NM_016148.5(SHANK1):c.733C>T (p.Arg245Trp)
|
|
|
NM_016194.4(GNB5):c.375+1G>A
|
|
|
NM_016284.5(CNOT1):c.3811C>T (p.Gln1271Ter)
|
|
|
NM_016580.4(PCDH12):c.309del (p.Cys104fs)
|
rs1753206427
|
|
NM_016580.4(PCDH12):c.669dup (p.Lys224fs)
|
rs776111123
|
|
NM_016604.4(KDM3B):c.3082C>T (p.Arg1028Trp)
|
rs2126962006
|
|
NM_016628.5(WAC):c.67C>T (p.Gln23Ter)
|
rs1836464000
|
|
NM_016648.4(LARP7):c.119dup (p.Gln41fs)
|
rs1560923303
|
|
NM_017617.5(NOTCH1):c.2112C>A (p.Cys704Ter)
|
|
|
NM_017780.4(CHD7):c.3269_3272del (p.Asp1090fs)
|
|
|
NM_017780.4(CHD7):c.3478del (p.Thr1160fs)
|
|
|
NM_017807.4(OSGEP):c.365G>T (p.Gly122Val)
|
rs1166790792
|
|
NM_017934.7(PHIP):c.797A>G (p.His266Arg)
|
rs1270288366
|
|
NM_018255.4(ELP2):c.293dup (p.Leu98fs)
|
rs529659464
|
|
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs)
|
rs1665684529
|
|
NM_019024.3(HEATR5B):c.1615C>T (p.Arg539Ter)
|
|
|
NM_019026.6(TMCO1):c.147dup (p.Leu50fs)
|
rs777163859
|
|
NM_019066.5(MAGEL2):c.2319del (p.Ala772_Trp773insTer)
|
|
|
NM_019616.4(F7):c.1325del (p.Pro442fs)
|
rs750457207
|
|
NM_020166.5(MCCC1):c.848AGA[1] (p.Lys284del)
|
rs1715495987
|
|
NM_020320.5(RARS2):c.536-1G>A
|
|
|
NM_020338.4(ZMIZ1):c.2019+1G>A
|
|
|
NM_020338.4(ZMIZ1):c.2083C>T (p.Leu695Phe)
|
rs1854350169
|
|
NM_020436.5(SALL4):c.2078del (p.Val693fs)
|
rs2122962179
|
|
NM_020699.4(GATAD2B):c.676C>T (p.Pro226Ser)
|
|
|
NM_020706.2(SCAF4):c.294T>G (p.Tyr98Ter)
|
|
|
NM_020719.3(PRR12):c.2218G>T (p.Glu740Ter)
|
|
|
NM_020719.3(PRR12):c.3950_3951del (p.Val1317fs)
|
|
|
NM_020771.4(HACE1):c.2552dup (p.Gly852fs)
|
rs745394044
|
|
NM_020791.4(TAOK1):c.653T>C (p.Leu218Pro)
|
|
|
NM_020791.4(TAOK1):c.692T>A (p.Met231Lys)
|
|
|
NM_020843.4(SCAPER):c.125-1G>A
|
rs2151864247
|
|
NM_020987.5(ANK3):c.4365_4368del (p.Arg1456fs)
|
rs2084966849
|
|
NM_021008.4(DEAF1):c.664G>A (p.Gly222Ser)
|
|
|
NM_021120.4(DLG3):c.116dup (p.Tyr39Ter)
|
|
|
NM_021120.4(DLG3):c.1447C>T (p.Gln483Ter)
|
rs2147842078
|
|
NM_021120.4(DLG3):c.159del (p.Tyr54fs)
|
rs1602857000
|
|
NM_021224.6(ZNF462):c.4180del (p.Trp1394fs)
|
|
|
NM_021830.5(TWNK):c.252dup (p.Ala85fs)
|
|
|
NM_022101.4(STEEP1):c.79del (p.Leu27fs)
|
|
|
NM_022893.4(BCL11A):c.176A>T (p.Asp59Val)
|
|
|
NM_023067.4(FOXL2):c.927del (p.Pro310fs)
|
|
|
NM_024426.6(WT1):c.1498C>T (p.Arg500Trp)
|
|
|
NM_024496.4(IRF2BPL):c.1271_1272dup (p.Thr425fs)
|
|
|
NM_024496.4(IRF2BPL):c.1922A>C (p.Lys641Thr)
|
rs2140377197
|
|
NM_024665.7(TBL1XR1):c.665T>A (p.Val222Asp)
|
|
|
NM_024757.5(EHMT1):c.3239T>C (p.Met1080Thr)
|
|
|
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys)
|
rs886041093
|
|
NM_024757.5(EHMT1):c.3610del (p.Glu1204fs)
|
|
|
NM_024989.4(PGAP1):c.1155T>G (p.Tyr385Ter)
|
rs1430249191
|
|
NM_025074.7(FRAS1):c.7522+2_7522+4del
|
rs1719735626
|
|
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs)
|
rs778407127
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_030632.3(ASXL3):c.1609_1612del (p.Leu537fs)
|
|
|
NM_030912.3(TRIM8):c.1062del (p.Pro355fs)
|
|
|
NM_032436.4(CHAMP1):c.1166C>G (p.Ser389Ter)
|
rs2139420368
|
|
NM_032608.7(MYO18B):c.7373del (p.Ala2458fs)
|
rs2147024104
|
|
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG
|
rs1554260851
|
|
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg)
|
rs2066342176
|
|
NM_033380.3(COL4A5):c.2294del (p.Pro765fs)
|
rs2066735315
|
|
NM_033380.3(COL4A5):c.4217-1G>A
|
rs587776402
|
|
NM_033380.3(COL4A5):c.60G>A (p.Trp20Ter)
|
|
|
NM_033380.3(COL4A5):c.938G>T (p.Gly313Val)
|
rs2147781020
|
|
NM_033550.4(TP53RK):c.309dup (p.Val104fs)
|
rs2122963096
|
|
NM_052867.4(NALCN):c.4327G>A (p.Val1443Ile)
|
|
|
NM_052867.4(NALCN):c.518G>A (p.Arg173Gln)
|
|
|
NM_053274.3(GLMN):c.1323dup (p.Thr442fs)
|
rs771252983
|
|
NM_057175.5(NAA15):c.1841dup (p.Asn614fs)
|
rs1283385686
|
|
NM_057175.5(NAA15):c.219G>T (p.Leu73Phe)
|
|
|
NM_058004.4(PI4KA):c.2751del (p.Cys918fs)
|
|
|
NM_080632.3(UPF3B):c.1174G>T (p.Glu392Ter)
|
rs1472437659
|
|
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn)
|
rs2145836461
|
|
NM_130839.5(UBE3A):c.1782del (p.Lys594fs)
|
rs1555391286
|
|
NM_130839.5(UBE3A):c.2508_2510dup (p.Ser837_His838insSer)
|
|
|
NM_134261.3(RORA):c.1092_1095dup (p.Ile366fs)
|
rs2065374158
|
|
NM_134261.3(RORA):c.203T>A (p.Ile68Asn)
|
|
|
NM_138422.4(ADAT3):c.24_37del (p.Pro10fs)
|
rs752360082
|
|
NM_138773.4(SLC25A46):c.479G>A (p.Trp160Ter)
|
rs1561602892
|
|
NM_145059.3(FCSK):c.669_670del (p.Val225fs)
|
|
|
NM_145200.5(CABP4):c.625C>T (p.Arg209Ter)
|
rs779788706
|
|
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met)
|
rs1555865401
|
|
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs)
|
rs1554560735
|
|
NM_152564.5(VPS13B):c.8446-1G>T
|
rs1554566596
|
|
NM_152594.3(SPRED1):c.24_25dup (p.Asp9fs)
|
rs2140943428
|
|
NM_152594.3(SPRED1):c.867dup (p.Ser290fs)
|
|
|
NM_153252.5(BRWD3):c.144G>A (p.Trp48Ter)
|
|
|
NM_170606.3(KMT2C):c.4629delinsCC (p.Thr1545fs)
|
rs2129128809
|
|
NM_170675.5(MEIS2):c.754+2T>C
|
rs1892542522
|
|
NM_170675.5(MEIS2):c.968T>G (p.Val323Gly)
|
rs2141389703
|
|
NM_170707.4(LMNA):c.331G>A (p.Glu111Lys)
|
|
|
NM_170784.3(MKKS):c.624_625del (p.Arg208fs)
|
rs762613490
|
|
NM_172362.3(KCNH1):c.210G>A (p.Met70Ile)
|
|
|
NM_173348.2(FAM149B1):c.1183C>T (p.Arg395Ter)
|
|
|
NM_173354.5(SIK1):c.1839C>A (p.Cys613Ter)
|
|
|
NM_176806.4(MOCS2):c.-8_15del (p.Met1fs)
|
rs397518417
|
|
NM_177550.5(SLC13A5):c.425del (p.Thr142fs)
|
rs2151495220
|
|
NM_177559.3(CSNK2A1):c.916C>T (p.Arg306Ter)
|
rs1380843831
|
|
NM_177986.5(DSG4):c.82G>T (p.Glu28Ter)
|
rs756862725
|
|
NM_178012.5(TUBB2B):c.518C>G (p.Pro173Arg)
|
rs2113819240
|
|
NM_181552.4(CUX1):c.3815_3884dup (p.Tyr1295Ter)
|
|
|
NM_182760.4(SUMF1):c.416T>G (p.Phe139Cys)
|
rs746433657
|
|
NM_182760.4(SUMF1):c.726-1_726del
|
rs1575196325
|
|
NM_182931.3(KMT2E):c.186G>A (p.Ala62=)
|
|
|
NM_182931.3(KMT2E):c.3784A>T (p.Arg1262Ter)
|
|
|
NM_183357.3(ADCY5):c.989G>A (p.Trp330Ter)
|
|
|
NM_194277.3(FRMD7):c.886G>T (p.Gly296Cys)
|
|
|
NM_194454.3(KRIT1):c.1564-2A>T
|
|
|
NM_197968.4(ZMYM2):c.1765C>T (p.Arg589Ter)
|
rs1952668177
|
|
NM_197968.4(ZMYM2):c.337del (p.Ser112_Val113insTer)
|
|
|
NM_198334.3(GANAB):c.517C>T (p.Arg173Ter)
|
|
|
NM_198525.3(KIF7):c.2059C>T (p.Arg687Ter)
|
rs138736028
|
|
NM_198880.3(QRICH1):c.1786+1G>A
|
rs2106854800
|
|
NM_198880.3(QRICH1):c.2159G>A (p.Arg720Gln)
|
|
|
NM_198880.3(QRICH1):c.2280_2281del (p.Ile760fs)
|
|
|
NM_201521.3(KLC4):c.553G>T (p.Glu185Ter)
|
rs1033630760
|
|
NM_203290.4(POLR1C):c.208dup (p.Ala70fs)
|
rs1561856961
|
|
NM_203475.3(PORCN):c.1001A>G (p.Tyr334Cys)
|
rs2061711638
|
|
NM_203486.3(DLL3):c.1272dup (p.Asp425fs)
|
|
|
NM_203486.3(DLL3):c.1312T>A (p.Cys438Ser)
|
|
|
NM_205768.3(ZBTB18):c.1147del (p.Leu383fs)
|
rs1698428309
|
|
NM_207037.2(TCF12):c.784C>T (p.Gln262Ter)
|
|
|