|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
|
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)
|
rs72653706
|
0.00122
|
|
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)
|
rs121434422
|
0.00058
|
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
|
NM_001077415.3(CRELD1):c.959del (p.Gln320fs)
|
rs759473511
|
0.00035
|
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00031
|
|
NM_016146.6(TRAPPC4):c.454+3A>G
|
rs375776811
|
0.00025
|
|
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)
|
rs138119149
|
0.00025
|
|
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)
|
rs121918221
|
0.00024
|
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
|
NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr)
|
rs201866563
|
0.00014
|
|
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)
|
rs200311463
|
0.00012
|
|
NM_018082.6(POLR3B):c.2084-6A>G
|
rs747912710
|
0.00011
|
|
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)
|
rs121908173
|
0.00010
|
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
|
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)
|
rs13447331
|
0.00008
|
|
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
|
rs200667343
|
0.00007
|
|
NM_001371395.1(USP53):c.1426C>T (p.Arg476Ter)
|
rs199791850
|
0.00006
|
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
|
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)
|
rs767864243
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
|
NM_000303.3(PMM2):c.24del (p.Cys9fs)
|
rs768021123
|
0.00004
|
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
|
NM_000518.5(HBB):c.315+1G>A
|
rs33945777
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys)
|
rs1189054127
|
0.00002
|
|
NM_004614.5(TK2):c.441del (p.Tyr148fs)
|
rs768548319
|
0.00002
|
|
NM_005912.3(MC4R):c.542G>A (p.Gly181Asp)
|
rs13447333
|
0.00002
|
|
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)
|
rs144610914
|
0.00002
|
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
|
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)
|
rs199472720
|
0.00001
|
|
NM_000256.3(MYBPC3):c.821+1G>A
|
rs397516073
|
0.00001
|
|
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)
|
rs148808089
|
0.00001
|
|
NM_000335.5(SCN5A):c.3890C>T (p.Pro1297Leu)
|
rs28937319
|
0.00001
|
|
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met)
|
rs199473282
|
0.00001
|
|
NM_000540.3(RYR1):c.668A>G (p.His223Arg)
|
rs766836202
|
0.00001
|
|
NM_000888.5(ITGB6):c.129G>A (p.Trp43Ter)
|
rs755330939
|
0.00001
|
|
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter)
|
rs397517012
|
0.00001
|
|
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter)
|
rs1483931960
|
0.00001
|
|
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln)
|
rs747681609
|
0.00001
|
|
NM_006346.4(PIBF1):c.1453C>T (p.Gln485Ter)
|
rs539010725
|
0.00001
|
|
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val)
|
rs398124225
|
0.00001
|
|
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)
|
rs180177091
|
0.00001
|
|
GRCh37/hg19 12p11.1(chr12:33526428-34714602)x3
|
|
|
|
GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1
|
|
|
|
NC_000017.11:g.14193766_15590127del
|
|
|
|
NM_000038.6(APC):c.531+1482A>G
|
|
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
|
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter)
|
rs80358740
|
|
|
NM_000059.4(BRCA2):c.805dup (p.Thr269fs)
|
rs886040744
|
|
|
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)
|
rs397507419
|
|
|
NM_000162.5(GCK):c.1278_1279del (p.Val427fs)
|
rs2128818859
|
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
|
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)
|
rs1064794848
|
|
|
NM_000251.3(MSH2):c.1864C>T (p.Pro622Ser)
|
|
|
|
NM_000302.4(PLOD1):c.1107_1114dup (p.Asp372fs)
|
|
|
|
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser)
|
rs1555453238
|
|
|
NM_000314.8(PTEN):c.1102del (p.Asp368fs)
|
|
|
|
NM_000314.8(PTEN):c.827A>G (p.Asn276Ser)
|
|
|
|
NM_000346.4(SOX9):c.508C>G (p.Pro170Ala)
|
rs866706988
|
|
|
NM_000381.4(MID1):c.889C>T (p.Gln297Ter)
|
rs2147299486
|
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
|
NM_000384.3(APOB):c.7765G>T (p.Glu2589Ter)
|
|
|
|
NM_000516.7(GNAS):c.317T>C (p.Ile106Thr)
|
|
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
|
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)
|
rs875989906
|
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
|
NM_000548.5(TSC2):c.5160+2T>C
|
rs397515170
|
|
|
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)
|
rs121918616
|
|
|
NM_000719.7(CACNA1C):c.2750T>G (p.Leu917Arg)
|
|
|
|
NM_001003694.2(BRPF1):c.2921-2A>C
|
|
|
|
NM_001005242.3(PKP2):c.1A>G (p.Met1Val)
|
rs794729107
|
|
|
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)
|
rs727504432
|
|
|
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter)
|
rs774663443
|
|
|
NM_001005273.3(CHD3):c.3506G>C (p.Arg1169Pro)
|
|
|
|
NM_001042432.2(CLN3):c.461-280_677+382del
|
rs1555468634
|
|
|
NM_001042492.3(NF1):c.1642-3C>G
|
rs1597706610
|
|
|
NM_001042681.2(RERE):c.621del (p.Asn207fs)
|
|
|
|
NM_001080517.3(SETD5):c.960-1G>A
|
|
|
|
NM_001083962.2(TCF4):c.980C>A (p.Ala327Glu)
|
|
|
|
NM_001101.5(ACTB):c.490C>T (p.Pro164Ser)
|
rs1784814856
|
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
|
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)
|
rs61748396
|
|
|
NM_001110792.2(MECP2):c.488A>C (p.Asp163Ala)
|
|
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
|
NM_001111125.3(IQSEC2):c.3576C>G (p.Tyr1192Ter)
|
|
|
|
NM_001114753.3(ENG):c.219G>A (p.Thr73=)
|
rs755348996
|
|
|
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)
|
rs794726726
|
|
|
NM_001190274.2(FBXO11):c.2138G>A (p.Trp713Ter)
|
|
|
|
NM_001197104.2(KMT2A):c.5824_5827del (p.Pro1942fs)
|
|
|
|
NM_001267550.2(TTN):c.104753T>G (p.Leu34918Ter)
|
|
|
|
NM_001267550.2(TTN):c.15085C>T (p.Arg5029Ter)
|
|
|
|
NM_001267550.2(TTN):c.84553C>T (p.Arg28185Ter)
|
rs397517729
|
|
|
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs)
|
rs794729354
|
|
|
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met)
|
rs2053619460
|
|
|
NM_001286.5(CLCN6):c.638G>A (p.Gly213Asp)
|
|
|
|
NM_001321075.3(DLG4):c.1849C>T (p.Arg617Ter)
|
rs767384318
|
|
|
NM_001321075.3(DLG4):c.500C>A (p.Pro167His)
|
|
|
|
NM_001349338.3(FOXP1):c.1507C>T (p.Arg503Ter)
|
rs797045584
|
|
|
NM_001349338.3(FOXP1):c.1573C>T (p.Arg525Ter)
|
rs112795301
|
|
|
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
|
|
|
|
NM_001370100.5(ZMYND11):c.950+2T>G
|
rs1951082266
|
|
|
NM_001371395.1(USP53):c.336del (p.Gln113fs)
|
|
|
|
NM_001372044.2(SHANK3):c.4910C>A (p.Ser1637Ter)
|
|
|
|
NM_001374828.1(ARID1B):c.3967dup (p.Ser1323fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4315-6_4315-3del
|
rs926806639
|
|
|
NM_001386298.1(CIC):c.3428T>C (p.Leu1143Pro)
|
|
|
|
NM_001395891.1(CLASP1):c.196-607G>A
|
rs180755563
|
|
|
NM_001429.4(EP300):c.3815G>C (p.Cys1272Ser)
|
|
|
|
NM_001458.5(FLNC):c.6893C>A (p.Pro2298His)
|
|
|
|
NM_001458.5(FLNC):c.7235_7236del (p.Thr2412fs)
|
|
|
|
NM_001613.4(ACTA2):c.536G>A (p.Arg179His)
|
rs387906592
|
|
|
NM_001845.6(COL4A1):c.2545G>A (p.Gly849Arg)
|
rs2139164265
|
|
|
NM_001927.4(DES):c.1151A>G (p.His384Arg)
|
rs1553603566
|
|
|
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser)
|
rs587777162
|
|
|
NM_001972.4(ELANE):c.641G>A (p.Gly214Glu)
|
rs1555710089
|
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
|
NM_002465.4(MYBPC1):c.793C>G (p.Arg265Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.2703del (p.His900_Tyr901insTer)
|
|
|
|
NM_003107.3(SOX4):c.200T>C (p.Met67Thr)
|
|
|
|
NM_003126.4(SPTA1):c.4519C>T (p.Arg1507Ter)
|
rs1651716612
|
|
|
NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln)
|
rs1565756106
|
|
|
NM_003482.4(KMT2D):c.9934C>T (p.Gln3312Ter)
|
|
|
|
NM_003673.4(TCAP):c.90_91del (p.Ser31fs)
|
rs1555606976
|
|
|
NM_003718.5(CDK13):c.2029A>T (p.Lys677Ter)
|
|
|
|
NM_003922.4(HERC1):c.2625G>A (p.Trp875Ter)
|
rs879253786
|
|
|
NM_003931.3(WASF1):c.1516C>T (p.Arg506Ter)
|
rs1562159562
|
|
|
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)
|
rs587777570
|
|
|
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)
|
rs886041126
|
|
|
NM_004975.4(KCNB1):c.1088del (p.Ser363fs)
|
rs1555889103
|
|
|
NM_005121.3(MED13):c.5885T>G (p.Val1962Gly)
|
|
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
|
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)
|
rs137852814
|
|
|
NM_005654.6(NR2F1):c.1096C>T (p.Arg366Cys)
|
|
|
|
NM_005859.5(PURA):c.211A>C (p.Lys71Gln)
|
|
|
|
NM_005921.2(MAP3K1):c.3964T>G (p.Phe1322Val)
|
|
|
|
NM_006306.4(SMC1A):c.2329T>C (p.Phe777Leu)
|
rs1556889236
|
|
|
NM_006306.4(SMC1A):c.2683C>T (p.Arg895Cys)
|
|
|
|
NM_006565.4(CTCF):c.1223_1226del (p.Glu408fs)
|
rs2142849423
|
|
|
NM_006772.3(SYNGAP1):c.3319C>T (p.Gln1107Ter)
|
rs1554122368
|
|
|
NM_006940.6(SOX5):c.1771G>A (p.Gly591Arg)
|
|
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
|
NM_012233.3(RAB3GAP1):c.258_261del (p.Gly88fs)
|
|
|
|
NM_012330.4(KAT6B):c.5254C>T (p.Gln1752Ter)
|
rs924532501
|
|
|
NM_013275.6(ANKRD11):c.316C>T (p.Arg106Ter)
|
|
|
|
NM_013275.6(ANKRD11):c.3309dup (p.Asp1104fs)
|
rs772267579
|
|
|
NM_013275.6(ANKRD11):c.6628G>T (p.Glu2210Ter)
|
|
|
|
NM_014264.5(PLK4):c.1658del (p.Pro553fs)
|
|
|
|
NM_014363.6(SACS):c.6290del (p.Cys2097fs)
|
rs1868755540
|
|
|
NM_014491.4(FOXP2):c.1126C>T (p.Arg376Ter)
|
|
|
|
NM_015100.4(POGZ):c.3351del (p.Leu1117fs)
|
|
|
|
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys)
|
rs1563292586
|
|
|
NM_015570.4(AUTS2):c.1A>T (p.Met1Leu)
|
rs2129067294
|
|
|
NM_016312.3(WBP11):c.251dup (p.Leu85fs)
|
|
|
|
NM_016604.4(KDM3B):c.4201A>G (p.Asn1401Asp)
|
|
|
|
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter)
|
rs886040985
|
|
|
NM_018136.5(ASPM):c.3599-1G>A
|
|
|
|
NM_018249.6(CDK5RAP2):c.217_220del (p.Glu73fs)
|
|
|
|
NM_018451.5(CPAP):c.3673del (p.Glu1225fs)
|
|
|
|
NM_019023.5(PRMT7):c.1707C>G (p.Tyr569Ter)
|
|
|
|
NM_020436.5(SALL4):c.383del (p.Gly128fs)
|
rs2122966358
|
|
|
NM_020699.4(GATAD2B):c.432_435del (p.Glu144fs)
|
rs1057518629
|
|
|
NM_020745.4(AARS2):c.647dup (p.Cys218fs)
|
rs587777589
|
|
|
NM_021614.4(KCNN2):c.1384dup (p.Thr462fs)
|
|
|
|
NM_021619.3(PRDM12):c.683-1G>A
|
rs2132607877
|
|
|
NM_021964.3(ZNF148):c.1268C>A (p.Ser423Ter)
|
rs2107831883
|
|
|
NM_022436.3(ABCG5):c.1464-1G>C
|
|
|
|
NM_024496.4(IRF2BPL):c.475del (p.Ala159fs)
|
|
|
|
NM_025114.4(CEP290):c.5512dup (p.Arg1838fs)
|
rs1565822519
|
|
|
NM_031844.3(HNRNPU):c.1463del (p.Pro488fs)
|
|
|
|
NM_031844.3(HNRNPU):c.1466del (p.Lys489fs)
|
|
|
|
NM_052859.4(RFT1):c.306G>A (p.Trp102Ter)
|
|
|
|
NM_057175.5(NAA15):c.266T>C (p.Leu89Pro)
|
rs1560965164
|
|
|
NM_057175.5(NAA15):c.908-2A>G
|
rs2110935003
|
|
|
NM_058195.4(CDKN2A):c.194-3653G>T
|
rs1800586
|
|
|
NM_138694.4(PKHD1):c.8642+1G>T
|
rs1485161784
|
|
|
NM_153240.5(NPHP3):c.35del (p.Gly12fs)
|
|
|
|
NM_172107.4(KCNQ2):c.763A>C (p.Lys255Gln)
|
|
|
|
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu)
|
rs121917812
|
|
|
NM_201599.3(ZMYM3):c.3802+2T>A
|
|
|
|
NM_207037.2(TCF12):c.1642_1645del (p.Glu548fs)
|
rs1555412971
|
|
|
NM_207122.2(EXT2):c.544C>T (p.Arg182Ter)
|
rs886039358
|
|
|
NR_001566.3(TERC):n.301A>T
|
|
|
|
NR_023343.3(RNU4ATAC):n.50G>A
|
rs181195449
|
|
|
Single allele
|
|
|