NM_000041.4(APOE):c.388T>C (p.Cys130Arg)
|
rs429358
|
0.16059
|
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_007113.4(TCHH):c.991C>T (p.Gln331Ter)
|
rs201930497
|
0.00039
|
NM_000540.3(RYR1):c.1598G>A (p.Arg533His)
|
rs144336148
|
0.00029
|
NM_000494.4(COL17A1):c.3418+2del
|
rs775244527
|
0.00026
|
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)
|
rs144948296
|
0.00018
|
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00017
|
NM_000275.3(OCA2):c.1503+5G>A
|
rs368124046
|
0.00008
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)
|
rs767539005
|
0.00006
|
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)
|
rs372254398
|
0.00005
|
NM_000550.3(TYRP1):c.1226C>T (p.Ala409Val)
|
rs148248971
|
0.00005
|
NM_000135.4(FANCA):c.3349-1G>A
|
rs769862233
|
0.00004
|
NM_006017.3(PROM1):c.1301+2T>C
|
rs775957498
|
0.00004
|
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn)
|
rs369264588
|
0.00004
|
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)
|
rs767271619
|
0.00003
|
NM_000153.4(GALC):c.868C>T (p.Arg290Cys)
|
rs780750448
|
0.00003
|
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr)
|
rs62514902
|
0.00003
|
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter)
|
rs530874854
|
0.00003
|
NM_002292.4(LAMB2):c.249+1G>A
|
rs779317615
|
0.00003
|
NM_025074.7(FRAS1):c.5370C>G (p.Tyr1790Ter)
|
rs757311669
|
0.00003
|
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)
|
rs1569541120
|
0.00002
|
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr)
|
rs764100025
|
0.00002
|
NM_000140.5(FECH):c.913G>T (p.Val305Phe)
|
rs765518889
|
0.00002
|
NM_005861.4(STUB1):c.778dup (p.His260fs)
|
rs780883873
|
0.00002
|
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter)
|
rs201239579
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_000017.4(ACADS):c.596C>T (p.Ala199Val)
|
rs766579880
|
0.00001
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
0.00001
|
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)
|
rs782293513
|
0.00001
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
0.00001
|
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)
|
rs782083931
|
0.00001
|
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser)
|
rs72656392
|
0.00001
|
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)
|
rs778034451
|
0.00001
|
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg)
|
rs766208466
|
0.00001
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly)
|
rs1057520617
|
0.00001
|
NM_000162.5(GCK):c.622G>A (p.Ala208Thr)
|
rs1476637197
|
0.00001
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
0.00001
|
NM_000212.3(ITGB3):c.778-2A>G
|
rs749261962
|
0.00001
|
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)
|
rs121912482
|
0.00001
|
NM_000271.5(NPC1):c.743G>T (p.Gly248Val)
|
rs1230538609
|
0.00001
|
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)
|
rs61748558
|
0.00001
|
NM_000504.4(F10):c.1073C>T (p.Thr358Met)
|
rs768222784
|
0.00001
|
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)
|
rs765353795
|
0.00001
|
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)
|
rs121917787
|
0.00001
|
NM_001089.3(ABCA3):c.2883C>T (p.Gly961=)
|
rs1298655924
|
0.00001
|
NM_001252024.2(TRPM1):c.279+147T>G
|
rs150441866
|
0.00001
|
NM_001376013.1(EPB41):c.1944+1G>C
|
rs1477424620
|
0.00001
|
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg)
|
rs797044947
|
0.00001
|
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter)
|
rs141698985
|
0.00001
|
NM_002470.4(MYH3):c.2419C>T (p.Gln807Ter)
|
rs754050324
|
0.00001
|
NM_003119.4(SPG7):c.861+1G>C
|
rs1412575396
|
0.00001
|
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg)
|
rs281865218
|
0.00001
|
NM_004249.4(RAB28):c.651T>G (p.Cys217Trp)
|
rs751163782
|
0.00001
|
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp)
|
rs764827256
|
0.00001
|
NM_005562.3(LAMC2):c.3454C>T (p.Gln1152Ter)
|
rs1217053724
|
0.00001
|
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)
|
rs137852760
|
0.00001
|
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)
|
rs1223430276
|
0.00001
|
NM_014625.4(NPHS2):c.138_142dup (p.Ser48fs)
|
rs1057516747
|
0.00001
|
NM_016343.4(CENPF):c.7639G>T (p.Glu2547Ter)
|
rs779120472
|
0.00001
|
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His)
|
rs1443883930
|
0.00001
|
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter)
|
rs372751467
|
0.00001
|
NM_054012.4(ASS1):c.174+1G>T
|
rs748264993
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)
|
rs971610277
|
0.00001
|
NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter)
|
rs756606635
|
0.00001
|
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del
|
|
|
NC_000023.11:g.(?_40052108)_(40077930_?)del
|
|
|
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)
|
rs776063244
|
|
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu)
|
rs63750779
|
|
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr)
|
rs1569541006
|
|
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)
|
rs2148399015
|
|
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile)
|
rs1557055337
|
|
NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro)
|
rs886044882
|
|
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs)
|
rs1569541207
|
|
NM_000033.4(ABCD1):c.221G>T (p.Arg74Leu)
|
rs868953385
|
|
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)
|
rs1569540695
|
|
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
|
rs1569540704
|
|
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)
|
rs2091709505
|
|
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser)
|
rs1569540665
|
|
NM_000033.4(ABCD1):c.913_942del (p.Leu305_Ala314del)
|
rs2148391915
|
|
NM_000038.6(APC):c.1341T>A (p.Cys447Ter)
|
rs1561545947
|
|
NM_000044.6(AR):c.2170C>T (p.Pro724Ser)
|
rs2147525357
|
|
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys)
|
rs759384989
|
|
NM_000051.4(ATM):c.9021dup (p.Arg3008fs)
|
rs876660235
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
NM_000059.4(BRCA2):c.2592del (p.Glu865fs)
|
rs2137487979
|
|
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg)
|
rs104894774
|
|
NM_000088.4(COL1A1):c.643-1G>A
|
rs2144586155
|
|
NM_000090.4(COL3A1):c.3446G>A (p.Gly1149Asp)
|
rs1688635593
|
|
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg)
|
rs1559913871
|
|
NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg)
|
rs1057517724
|
|
NM_000094.4(COL7A1):c.5783G>A (p.Gly1928Glu)
|
rs1560219171
|
|
NM_000094.4(COL7A1):c.6017G>A (p.Gly2006Asp)
|
rs121912842
|
|
NM_000095.3(COMP):c.1265A>C (p.Asp422Ala)
|
rs1568554988
|
|
NM_000133.4(F9):c.*1157A>G
|
rs1317977313
|
|
NM_000135.2(FANCA):c.1_2151+1del
|
|
|
NM_000135.2:c.523_2601del
|
|
|
NM_000135.2:c.894_2641del
|
|
|
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His)
|
rs1567635573
|
|
NM_000135.4(FANCA):c.2014+1G>C
|
rs1598116164
|
|
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)
|
rs1567618907
|
|
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val)
|
rs1567603987
|
|
NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly)
|
rs1555399968
|
|
NM_000138.5(FBN1):c.3157T>G (p.Cys1053Gly)
|
rs1555398667
|
|
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe)
|
rs1555396418
|
|
NM_000138.5(FBN1):c.6569G>T (p.Cys2190Phe)
|
rs1566895262
|
|
NM_000142.5(FGFR3):c.2419T>C (p.Ter807Arg)
|
rs121913101
|
|
NM_000157.4(GBA1):c.1271T>C (p.Leu424Pro)
|
rs772548282
|
|
NM_000162.5(GCK):c.317A>C (p.Gln106Pro)
|
|
|
NM_000190.4(HMBS):c.364G>C (p.Ala122Pro)
|
rs143984293
|
|
NM_000203.5(IDUA):c.390del (p.Phe130fs)
|
rs1560545883
|
|
NM_000211.5(ITGB2):c.1959_1960insTC (p.Asn654fs)
|
rs1568879914
|
|
NM_000212.3(ITGB3):c.325del (p.Val109fs)
|
rs1567764064
|
|
NM_000214.3(JAG1):c.3007_3013dup (p.Ser1005Ter)
|
rs1568791694
|
|
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg)
|
rs2058637844
|
|
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
|
|
|
NM_000277.3(PAH):c.529G>C (p.Val177Leu)
|
rs199475602
|
|
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup)
|
rs387906530
|
|
NM_000312.4(PROC):c.1166G>C (p.Gly389Ala)
|
rs1305782685
|
|
NM_000312.4(PROC):c.1267G>A (p.Gly423Ser)
|
rs1688706297
|
|
NM_000312.4(PROC):c.199G>A (p.Glu67Lys)
|
rs1448630830
|
|
NM_000314.8(PTEN):c.1023del (p.Phe341fs)
|
rs1564568689
|
|
NM_000314.8(PTEN):c.226del (p.Tyr76fs)
|
rs1564828960
|
|
NM_000314.8(PTEN):c.296_297insTA (p.Glu99fs)
|
|
|
NM_000314.8(PTEN):c.764T>A (p.Val255Glu)
|
rs1564566998
|
|
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)
|
rs121918567
|
|
NM_000338.3(SLC12A1):c.2834_2873+12del
|
rs1566857461
|
|
NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg)
|
rs1564955779
|
|
NM_000352.6(ABCC8):c.4168G>C (p.Ala1390Pro)
|
|
|
NM_000393.5(COL5A2):c.2553+1G>T
|
|
|
NM_000397.4(CYBB):c.1237dup (p.Val413fs)
|
rs1569480031
|
|
NM_000424.4(KRT5):c.817del (p.Phe272_Val273insTer)
|
rs1565593355
|
|
NM_000426.4(LAMA2):c.2749+1G>A
|
rs759555791
|
|
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys)
|
rs1323608032
|
|
NM_000444.6(PHEX):c.1875T>G (p.Tyr625Ter)
|
rs1400504292
|
|
NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter)
|
rs1569442206
|
|
NM_000458.4(HNF1B):c.884G>C (p.Arg295Pro)
|
|
|
NM_000458.4(HNF1B):c.896G>A (p.Trp299Ter)
|
rs1598840996
|
|
NM_000478.6(ALPL):c.1142A>G (p.His381Arg)
|
rs1558557428
|
|
NM_000478.6(ALPL):c.1259G>C (p.Gly420Ala)
|
|
|
NM_000478.6(ALPL):c.1427A>C (p.Glu476Ala)
|
rs2148195004
|
|
NM_000478.6(ALPL):c.318G>C (p.Gln106His)
|
rs1553412268
|
|
NM_000478.6(ALPL):c.394G>A (p.Ala132Thr)
|
rs757771793
|
|
NM_000478.6(ALPL):c.705G>T (p.Glu235Asp)
|
rs2148171627
|
|
NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter)
|
|
|
NM_000494.4(COL17A1):c.44del (p.Thr15fs)
|
|
|
NM_000496.3(CRYBB2):c.355G>A (p.Gly119Arg)
|
rs864309698
|
|
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys)
|
rs1301146300
|
|
NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del)
|
rs1569032751
|
|
NM_000516.7(GNAS):c.873CAA[1] (p.Asn292del)
|
rs2091331588
|
|
NM_000531.6(OTC):c.488T>A (p.Leu163Gln)
|
rs2068486155
|
|
NM_000531.6(OTC):c.961T>C (p.Ser321Pro)
|
rs1569281354
|
|
NM_000540.2(RYR1):c.14970delG
|
rs1568613962
|
|
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met)
|
rs118192116
|
|
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala)
|
rs45484892
|
|
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro)
|
rs1567458244
|
|
NM_000552.5(VWF):c.3538G>A (p.Gly1180Arg)
|
rs267607332
|
|
NM_000642.3(AGL):c.4259+5G>A
|
rs780504025
|
|
NM_000642.3(AGL):c.921del (p.Asn307fs)
|
rs1571243862
|
|
NM_000901.5(NR3C2):c.1799C>A (p.Ser600Ter)
|
rs2149871784
|
|
NM_000901.5(NR3C2):c.2755C>T (p.Gln919Ter)
|
rs1553986377
|
|
NM_001004334.4(GPR179):c.1727del (p.Tyr576fs)
|
rs1567725425
|
|
NM_001009944.3(PKD1):c.11661del (p.Phe3888fs)
|
rs2151695275
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)
|
rs199476100
|
|
NM_001009944.3(PKD1):c.5693dup (p.Val1899fs)
|
rs1567195868
|
|
NM_001009944.3(PKD1):c.6916-9G>A
|
rs1567190244
|
|
NM_001010942.3(RAP1B):c.176C>G (p.Ala59Gly)
|
rs2135963070
|
|
NM_001015877.2(PHF6):c.65C>A (p.Ser22Ter)
|
rs1569334260
|
|
NM_001017979.3(RAB28):c.355_356del (p.Glu119fs)
|
rs1560141393
|
|
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs)
|
rs1559399574
|
|
NM_001034853.2(RPGR):c.2384del (p.Glu795fs)
|
rs1569237206
|
|
NM_001034853.2(RPGR):c.883C>T (p.Gln295Ter)
|
rs2067562961
|
|
NM_001039213.4(CEACAM16):c.1122dup (p.Ala375fs)
|
rs1599814534
|
|
NM_001042492.3(NF1):c.4316T>A (p.Leu1439Ter)
|
rs1567862071
|
|
NM_001082538.3(TCTN1):c.580del (p.Ser194fs)
|
rs2136006298
|
|
NM_001089.3(ABCA3):c.4885dup (p.Ala1629fs)
|
rs2093649055
|
|
NM_001110556.2(FLNA):c.861C>G (p.Tyr287Ter)
|
rs375503410
|
|
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs)
|
rs1569291627
|
|
NM_001114753.3(ENG):c.1039A>T (p.Lys347Ter)
|
rs1446116085
|
|
NM_001122764.3(PPOX):c.869-3_869-2del
|
rs1558033572
|
|
NM_001134225.2(INPP4A):c.36C>T (p.Ala12=)
|
rs1306444586
|
|
NM_001142966.3(GREB1L):c.3863G>A (p.Trp1288Ter)
|
|
|
NM_001165963.4(SCN1A):c.2867T>C (p.Met956Thr)
|
rs1696619508
|
|
NM_001174147.2(LMX1B):c.353G>A (p.Cys118Tyr)
|
rs121909488
|
|
NM_001194998.2(CEP152):c.780del (p.Asn260fs)
|
rs1567024512
|
|
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs)
|
rs1055318738
|
|
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter)
|
rs748847284
|
|
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)
|
rs387906653
|
|
NM_001258392.3(CLPB):c.221dup (p.Gly76fs)
|
rs2135181870
|
|
NM_001283009.2(RTEL1):c.3730_3731del (p.Cys1244fs)
|
rs1316931773
|
|
NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr)
|
rs281860274
|
|
NM_001292063.2(OTOG):c.7860G>A (p.Trp2620Ter)
|
rs1565129771
|
|
NM_001317778.2(SFTPC):c.444del (p.Ala149fs)
|
rs2131820994
|
|
NM_001330260.2(SCN8A):c.737A>G (p.Gln246Arg)
|
|
|
NM_001349253.2(SCN11A):c.2423C>A (p.Ala808Asp)
|
rs483352921
|
|
NM_001365902.3(NFIX):c.834del (p.Lys279fs)
|
rs1568318540
|
|
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)
|
rs397514357
|
|
NM_001376.5(DYNC1H1):c.3372T>A (p.His1124Gln)
|
|
|
NM_001399.5(EDA):c.161A>T (p.His54Leu)
|
rs1569272194
|
|
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1])
|
rs1064793104
|
|
NM_001606.5(ABCA2):c.5923+1G>A
|
|
|
NM_001845.6(COL4A1):c.1502G>A (p.Gly501Asp)
|
rs2139179173
|
|
NM_001848.3(COL6A1):c.787G>T (p.Gly263Cys)
|
rs1569517943
|
|
NM_001854.4(COL11A1):c.1862_1870del (p.Gln621_Pro623del)
|
rs1557932876
|
|
NM_001854.4(COL11A1):c.2287G>T (p.Gly763Ter)
|
rs2101794024
|
|
NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp)
|
rs1557877041
|
|
NM_001875.5(CPS1):c.1550-2A>C
|
rs2105840261
|
|
NM_001875.5(CPS1):c.947+1G>A
|
rs2106109125
|
|
NM_001887.4(CRYBB1):c.419G>C (p.Arg140Pro)
|
rs752315498
|
|
NM_002485.5(NBN):c.46_49del (p.Tyr16fs)
|
rs1812139426
|
|
NM_003042.4(SLC6A1):c.757del (p.Ile253fs)
|
|
|
NM_003384.3(VRK1):c.156_160+3del
|
rs1566696845
|
|
NM_003919.3(SGCE):c.434_442dup (p.Asn145_Ile147dup)
|
rs1562853011
|
|
NM_003998.4(NFKB1):c.1752+1G>A
|
rs1560711146
|
|
NM_003998.4(NFKB1):c.317dup (p.Asn106fs)
|
rs1560679469
|
|
NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter)
|
rs1562505728
|
|
NM_004183.4(BEST1):c.915T>G (p.Phe305Leu)
|
rs1565036465
|
|
NM_004247.4(EFTUD2):c.351-2A>G
|
|
|
NM_004360.5(CDH1):c.1371_1373del (p.Asn458del)
|
rs2152134773
|
|
NM_004444.5(EPHB4):c.1861_1864dup (p.Gly622fs)
|
rs2116432544
|
|
NM_004444.5(EPHB4):c.2102T>G (p.Leu701Arg)
|
rs1812966939
|
|
NM_004655.4(AXIN2):c.956+1G>A
|
rs2144537386
|
|
NM_005215.4(DCC):c.3778C>T (p.Gln1260Ter)
|
|
|
NM_005251.2(FOXC2):c.(?_1)_(1506_?)del
|
|
|
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser)
|
rs121909059
|
|
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg)
|
rs780246932
|
|
NM_005859.5(PURA):c.407_420dup (p.Ala142fs)
|
rs1561793219
|
|
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del)
|
rs752461187
|
|
NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys)
|
rs886039513
|
|
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)
|
rs543698823
|
|
NM_006019.4(TCIRG1):c.1346_1351del (p.Leu449_Gly451delinsArg)
|
rs2134455141
|
|
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)
|
rs1855655612
|
|
NM_006031.6(PCNT):c.4366C>T (p.Gln1456Ter)
|
rs1569249386
|
|
NM_006121.4(KRT1):c.563A>T (p.Asn188Ile)
|
rs58928370
|
|
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His)
|
rs1555550617
|
|
NM_006642.3:c.1069_1356del
|
|
|
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs)
|
rs1390963789
|
|
NM_007126.5(VCP):c.283C>T (p.Arg95Cys)
|
rs121909332
|
|
NM_012338.4(TSPAN12):c.566G>A (p.Cys189Tyr)
|
rs1335735639
|
|
NM_014112.5(TRPS1):c.3062del (p.Gly1021fs)
|
rs1812876043
|
|
NM_014319.5(LEMD3):c.2371_2372del (p.Met791fs)
|
rs1592464882
|
|
NM_014727.3(KMT2B):c.4109_4110dup (p.Leu1371fs)
|
rs2146455000
|
|
NM_014874.4(MFN2):c.653T>C (p.Leu218Pro)
|
rs879253925
|
|
NM_014946.4(SPAST):c.1666G>A (p.Ala556Thr)
|
rs1558341948
|
|
NM_015175.3(NBEAL2):c.2151G>C (p.Glu717Asp)
|
rs2107346255
|
|
NM_015340.4(LARS2):c.1115C>G (p.Ser372Ter)
|
rs1559484149
|
|
NM_015629.4(PRPF31):c.239-2A>G
|
rs1600334904
|
|
NM_015909.3:c.(?_5028)_(5724_?)del
|
|
|
NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro)
|
rs796052121
|
|
NM_015915.5(ATL1):c.1511del (p.Gly504fs)
|
rs1566735903
|
|
NM_016343.4(CENPF):c.4189_4192del (p.Asp1397fs)
|
rs776697039
|
|
NM_017780.4(CHD7):c.3688del (p.Ser1230fs)
|
|
|
NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp)
|
rs1556007534
|
|
NM_020366.4(RPGRIP1):c.673del (p.His225fs)
|
rs752263228
|
|
NM_022124.6(CDH23):c.8061C>G (p.Tyr2687Ter)
|
rs1564803868
|
|
NM_022356.4(P3H1):c.2055+86A>G
|
|
|
NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu)
|
rs1562305653
|
|
NM_022489.4(INF2):c.161G>C (p.Arg54Pro)
|
rs866348422
|
|
NM_023110.3(FGFR1):c.745+2T>A
|
rs1586314855
|
|
NM_023343.1:c.55G>A
|
|
|
NM_024426.6(WT1):c.1421A>C (p.His474Pro)
|
rs1564969626
|
|
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn)
|
rs1565286202
|
|
NM_031475.3(ESPN):c.2446G>T (p.Glu816Ter)
|
rs1485674839
|
|
NM_032043.3(BRIP1):c.1936-1G>A
|
rs1555601204
|
|
NM_032444.4(SLX4):c.425del (p.Gly142fs)
|
rs757662453
|
|
NM_032638.5(GATA2):c.1085G>A (p.Arg362Gln)
|
rs867160952
|
|
NM_033380.3(COL4A5):c.1480G>C (p.Gly494Arg)
|
rs1569493662
|
|
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val)
|
rs281874713
|
|
NM_033409.4(SLC52A3):c.753del (p.Val252fs)
|
rs1568721373
|
|
NM_053274.3(GLMN):c.743T>A (p.Leu248Ter)
|
rs1656251554
|
|
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter)
|
rs121912950
|
|
NM_130837.3(OPA1):c.2142del (p.Gln714fs)
|
rs2109139435
|
|
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn)
|
rs121908072
|
|
NM_138694.4(PKHD1):c.1227del (p.Thr410fs)
|
rs1808421350
|
|
NM_138694.4(PKHD1):c.6410_6423del (p.Arg2137fs)
|
rs2127663896
|
|
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)
|
rs794727756
|
|
NM_144672.4(OTOA):c.2295del (p.Thr766fs)
|
rs774366025
|
|
NM_144997.7(FLCN):c.792del (p.Cys265fs)
|
rs1567816339
|
|
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs)
|
rs180177374
|
|
NM_152564.5(VPS13B):c.2889del (p.Trp963fs)
|
rs1563700124
|
|
NM_153006.3(NAGS):c.1268+2T>C
|
rs202041339
|
|
NM_178014.4(TUBB):c.316T>G (p.Tyr106Asp)
|
rs2127749078
|
|
NM_181426.2(CCDC39):c.782T>A (p.Leu261Ter)
|
rs779435800
|
|
NM_182961.4(SYNE1):c.3595G>T (p.Glu1199Ter)
|
rs2098603169
|
|
NM_198253.3(TERT):c.2947C>T (p.His983Tyr)
|
rs1554038803
|
|
NM_203446.3(SYNJ1):c.1600C>T (p.Arg534Ter)
|
rs1569075471
|
|
NM_203446.3(SYNJ1):c.2242C>T (p.Gln748Ter)
|
|
|
NM_203446.3(SYNJ1):c.2398C>T (p.Arg800Cys)
|
|
|
NM_206933.4(USH2A):c.647T>G (p.Val216Gly)
|
rs1571801514
|
|
NM_207122.2(EXT2):c.238del (p.Arg80fs)
|
rs1565196333
|
|
NR_001566.1(TERC):n.407_408delinsAA
|
rs1553915580
|
|