NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)
|
rs200473652
|
0.00163
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)
|
rs146013446
|
0.00070
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00048
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_015836.4(WARS2):c.791A>G (p.Tyr264Cys)
|
rs139194636
|
0.00024
|
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)
|
rs200503833
|
0.00019
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
NM_003041.4(SLC5A2):c.885+5G>A
|
rs200228142
|
0.00014
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_021120.4(DLG3):c.1721G>A (p.Arg574Gln)
|
rs149595793
|
0.00007
|
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)
|
rs763915229
|
0.00006
|
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly)
|
rs142217951
|
0.00006
|
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)
|
rs180675584
|
0.00006
|
NM_181789.4(GLDN):c.95C>A (p.Ala32Glu)
|
rs779432560
|
0.00006
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His)
|
rs199473283
|
0.00004
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
NM_005159.5(ACTC1):c.941G>A (p.Arg314His)
|
rs121912673
|
0.00003
|
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys)
|
rs431905509
|
0.00003
|
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter)
|
rs1057519563
|
0.00003
|
NM_017799.4(TMEM260):c.1869+1G>A
|
rs141599092
|
0.00003
|
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter)
|
rs368115694
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_025233.7(COASY):c.701-2A>C
|
rs1022433060
|
0.00003
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr)
|
rs199472813
|
0.00002
|
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)
|
rs727504238
|
0.00002
|
NM_000257.4(MYH7):c.958G>A (p.Val320Met)
|
rs376897125
|
0.00002
|
NM_000370.3(TTPA):c.552G>A (p.Thr184=)
|
rs181109321
|
0.00002
|
NM_001371986.1(UNC80):c.6805G>A (p.Asp2269Asn)
|
rs886041094
|
0.00002
|
NM_001375405.1(CEP120):c.2323C>T (p.Gln775Ter)
|
rs759125480
|
0.00002
|
NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter)
|
rs752254977
|
0.00002
|
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter)
|
rs74315512
|
0.00002
|
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro)
|
rs201100272
|
0.00002
|
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)
|
rs777323132
|
0.00001
|
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)
|
rs80356702
|
0.00001
|
NM_000212.3(ITGB3):c.1132C>T (p.Arg378Cys)
|
rs774332906
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu)
|
rs199472979
|
0.00001
|
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)
|
rs397516209
|
0.00001
|
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser)
|
rs949271895
|
0.00001
|
NM_000303.3(PMM2):c.66+1G>T
|
rs937726878
|
0.00001
|
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys)
|
rs199473171
|
0.00001
|
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)
|
rs193922781
|
0.00001
|
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)
|
rs28933397
|
0.00001
|
NM_001077365.2(POMT1):c.697_699del (p.Asn233del)
|
rs761863400
|
0.00001
|
NM_001203.3(BMPR1B):c.988C>T (p.His330Tyr)
|
rs1177728492
|
0.00001
|
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs)
|
rs753338285
|
0.00001
|
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter)
|
rs1304140510
|
0.00001
|
NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp)
|
rs770344400
|
0.00001
|
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr)
|
rs1424516740
|
0.00001
|
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)
|
rs119482083
|
0.00001
|
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter)
|
rs755288504
|
0.00001
|
NM_015213.4(DENND5A):c.3629G>A (p.Arg1210Gln)
|
rs1057519564
|
0.00001
|
NM_015512.5(DNAH1):c.3772C>T (p.Gln1258Ter)
|
rs1415820936
|
0.00001
|
NM_015836.4(WARS2):c.715C>T (p.Arg239Ter)
|
rs757600616
|
0.00001
|
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys)
|
rs1247438528
|
0.00001
|
NM_017934.7(PHIP):c.2368C>T (p.Gln790Ter)
|
rs1582175173
|
0.00001
|
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val)
|
rs755985958
|
0.00001
|
NM_152393.4(KLHL40):c.100G>C (p.Asp34His)
|
rs778565563
|
0.00001
|
GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1
|
|
|
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3
|
|
|
GRCh37/hg19 15q11.2(chr15:22746948-23323445)x1
|
|
|
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1
|
|
|
GRCh37/hg19 16p12.2(chr16:21936726-22461225)x1
|
|
|
GRCh37/hg19 16p13.11(chr16:14886858-16328857)x3
|
|
|
GRCh37/hg19 17p11.2(chr17:17117620-17118776)x1
|
|
|
GRCh37/hg19 20q13.12(chr20:42981187-42987120)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:20754407-21457610)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:21081284-21457610)x1
|
|
|
GRCh37/hg19 2q13(chr2:111368818-113065741)x3
|
|
|
GRCh37/hg19 4p16.3(chr4:1420948-1836794)x3
|
|
|
GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1
|
|
|
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)
|
rs796051920
|
|
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
|
rs80358928
|
|
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)
|
rs80358233
|
|
NM_000214.3(JAG1):c.588C>A (p.Cys196Ter)
|
rs1801138
|
|
NM_000256.3(MYBPC3):c.3330+5G>C
|
rs373746463
|
|
NM_000284.4(PDHA1):c.461A>G (p.His154Arg)
|
rs1131692230
|
|
NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter)
|
rs2147180742
|
|
NM_000310.4(PPT1):c.442G>T (p.Gly148Ter)
|
rs2124484378
|
|
NM_000435.3(NOTCH3):c.6409_6410del (p.Leu2137fs)
|
|
|
NM_000465.4(BARD1):c.872del (p.Thr291fs)
|
rs1574818832
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)
|
rs121964920
|
|
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)
|
|
|
NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met)
|
rs796052571
|
|
NM_000834.5(GRIN2B):c.2045G>A (p.Arg682His)
|
rs886041095
|
|
NM_001003694.2(BRPF1):c.1755_1756delinsT (p.Lys585fs)
|
rs1559662068
|
|
NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del)
|
rs1553697341
|
|
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys)
|
rs797045412
|
|
NM_001029896.2(WDR45):c.516+5G>A
|
|
|
NM_001029896.2(WDR45):c.973+1G>A
|
rs869312661
|
|
NM_001032221.6(STXBP1):c.451_454del (p.Asp151fs)
|
|
|
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr)
|
rs1057518373
|
|
NM_001040142.2(SCN2A):c.4644G>C (p.Met1548Ile)
|
rs1574746759
|
|
NM_001042492.3(NF1):c.4228T>A (p.Phe1410Ile)
|
rs2151461937
|
|
NM_001083962.2(TCF4):c.1486G>T (p.Gly496Cys)
|
rs1599570613
|
|
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter)
|
rs2057948502
|
|
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)
|
rs764839814
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
NM_001127392.3(MYRF):c.1200C>A (p.Asn400Lys)
|
rs1565295267
|
|
NM_001127392.3(MYRF):c.2074C>G (p.Leu692Val)
|
rs1162309498
|
|
NM_001130004.2(ACTN1):c.2201A>G (p.Gln734Arg)
|
rs1555343284
|
|
NM_001134407.3(GRIN2A):c.4375A>G (p.Ser1459Gly)
|
rs869312681
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001142966.3(GREB1L):c.157+1del
|
rs2040417979
|
|
NM_001161352.2(KCNMA1):c.2846A>G (p.Asn949Ser)
|
rs1565091862
|
|
NM_001164508.2(NEB):c.20401G>T (p.Gly6801Ter)
|
rs1405498595
|
|
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr)
|
rs886039464
|
|
NM_001173464.2(KIF21A):c.706C>T (p.Gln236Ter)
|
rs267603451
|
|
NM_001190274.2(FBXO11):c.1576G>A (p.Ala526Thr)
|
rs1572785471
|
|
NM_001190274.2(FBXO11):c.2666A>T (p.Asp889Val)
|
|
|
NM_001200.4(BMP2):c.939G>A (p.Trp313Ter)
|
rs1600173481
|
|
NM_001242896.3(DEPDC5):c.1840A>T (p.Arg614Ter)
|
|
|
NM_001256627.2(BRSK2):c.1532_1533del (p.Glu511fs)
|
rs1135402760
|
|
NM_001256627.2(BRSK2):c.635G>A (p.Gly212Glu)
|
rs1554904772
|
|
NM_001273.5(CHD4):c.2978A>G (p.Asn993Ser)
|
rs1592273799
|
|
NM_001288705.3(CSF1R):c.2699G>A (p.Arg900Lys)
|
rs1757092904
|
|
NM_001291415.2(KDM6A):c.4317T>A (p.Tyr1439Ter)
|
rs1603068073
|
|
NM_001303052.2(MYT1L):c.1559T>C (p.Leu520Pro)
|
rs1057519560
|
|
NM_001312909.2(FAM111A):c.931A>T (p.Ile311Phe)
|
rs145826377
|
|
NM_001320.7(CSNK2B):c.202C>T (p.Gln68Ter)
|
rs2151187172
|
|
NM_001320.7(CSNK2B):c.229G>T (p.Glu77Ter)
|
rs1583608433
|
|
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr)
|
rs1555940536
|
|
NM_001330260.2(SCN8A):c.5276A>G (p.Asn1759Ser)
|
rs869312690
|
|
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr)
|
rs1592387849
|
|
NM_001330700.2(TOP2B):c.3451C>G (p.Leu1151Val)
|
rs1702479861
|
|
NM_001348716.2(KDM6B):c.3945-2A>T
|
rs2151379290
|
|
NM_001356.5(DDX3X):c.1171-2A>C
|
rs2147356545
|
|
NM_001366521.1(ATP2B1):c.1907_1908del (p.Val636fs)
|
rs2136050284
|
|
NM_001369268.1(ACAN):c.613_616dup (p.Asp206delinsGlyTer)
|
rs2141567062
|
|
NM_001369369.1(FOXN1):c.1364_1367del (p.Tyr455fs)
|
rs2151499024
|
|
NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu)
|
rs151344527
|
|
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly)
|
rs121909574
|
|
NM_001374828.1(ARID1B):c.1293_1317del (p.Ala433fs)
|
rs1778944605
|
|
NM_001376.5(DYNC1H1):c.2868+2_2868+5delinsCCACAAA
|
rs2141276717
|
|
NM_001376.5(DYNC1H1):c.5873A>G (p.Asp1958Gly)
|
|
|
NM_001376571.1(MADD):c.3070C>T (p.Gln1024Ter)
|
rs148016422
|
|
NM_001378452.1(ITPR1):c.7605_7606del (p.Thr2535_Cys2536insTer)
|
rs2106492882
|
|
NM_001379110.1(SLC9A6):c.1189del (p.Ala397fs)
|
|
|
NM_001379403.1(WDR26):c.1411G>C (p.Ala471Pro)
|
rs2102905325
|
|
NM_001379403.1(WDR26):c.1525T>G (p.Trp509Gly)
|
rs1553354956
|
|
NM_001379403.1(WDR26):c.1537G>A (p.Asp513Asn)
|
rs1553354952
|
|
NM_001385012.1(NBEA):c.2836C>T (p.His946Tyr)
|
rs869312667
|
|
NM_001385012.1(NBEA):c.6637C>T (p.Arg2213Ter)
|
rs878853169
|
|
NM_001388303.1(HECTD4):c.4958+1G>A
|
|
|
NM_001393769.1(MED12L):c.6097C>T (p.Gln2033Ter)
|
rs1553815325
|
|
NM_001429.4(EP300):c.6691del (p.Met2231fs)
|
rs1601641819
|
|
NM_001453.3(FOXC1):c.1157del (p.Gly386fs)
|
rs1762550387
|
|
NM_001658.4(ARF1):c.143C>T (p.Thr48Ile)
|
rs1571844539
|
|
NM_001807.6(CEL):c.337C>T (p.Gln113Ter)
|
rs1200339761
|
|
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val)
|
rs140580674
|
|
NM_001844.5(COL2A1):c.1937dup (p.Ala647fs)
|
rs2136558900
|
|
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser)
|
rs2136539942
|
|
NM_001844.5(COL2A1):c.2594del (p.Pro865fs)
|
rs2136537559
|
|
NM_001844.5(COL2A1):c.3563G>C (p.Gly1188Ala)
|
rs1592197682
|
|
NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser)
|
rs1877701802
|
|
NM_001853.4(COL9A3):c.700C>T (p.Arg234Ter)
|
rs1027769042
|
|
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)
|
rs397516706
|
|
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu)
|
rs1576203003
|
|
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn)
|
rs869312676
|
|
NM_002641.4(PIGA):c.395C>G (p.Ser132Cys)
|
rs1060499625
|
|
NM_002834.5(PTPN11):c.1409T>C (p.Ile470Thr)
|
rs2038706856
|
|
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)
|
rs121918454
|
|
NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys)
|
rs1279770165
|
|
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)
|
rs397507530
|
|
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys)
|
rs397516827
|
|
NM_002968.3(SALL1):c.269dup (p.Pro91fs)
|
rs2143452445
|
|
NM_003070.5(SMARCA2):c.3562G>A (p.Ala1188Thr)
|
rs281875196
|
|
NM_003722.5(TP63):c.1685T>C (p.Leu562Pro)
|
rs774221257
|
|
NM_003722.5(TP63):c.739C>T (p.His247Tyr)
|
rs1553856553
|
|
NM_003924.4(PHOX2B):c.440A>G (p.Gln147Arg)
|
rs2153112821
|
|
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup)
|
rs771383153
|
|
NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe)
|
rs1597789186
|
|
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val)
|
rs869312714
|
|
NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr)
|
rs1567263529
|
|
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter)
|
rs199821421
|
|
NM_004380.3(CREBBP):c.85+1G>A
|
rs1597099388
|
|
NM_004429.5(EFNB1):c.24G>A (p.Trp8Ter)
|
rs2080439314
|
|
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)
|
rs193922941
|
|
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys)
|
rs1569481124
|
|
NM_005188.4(CBL):c.1096-4_1096-1del
|
rs397517077
|
|
NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys)
|
rs879255530
|
|
NM_005269.3(GLI1):c.985A>T (p.Lys329Ter)
|
rs1871565914
|
|
NM_005445.4(SMC3):c.283G>A (p.Glu95Lys)
|
rs869312672
|
|
NM_005629.4(SLC6A8):c.1548C>A (p.Cys516Ter)
|
|
|
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr)
|
rs1135402761
|
|
NM_005859.5(PURA):c.503T>C (p.Leu168Pro)
|
rs1581036449
|
|
NM_005859.5(PURA):c.710C>T (p.Ser237Phe)
|
rs886039899
|
|
NM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter)
|
|
|
NM_005993.5(TBCD):c.2077C>A (p.Pro693Thr)
|
|
|
NM_005993.5(TBCD):c.2472-2A>G
|
|
|
NM_006035.4(CDC42BPB):c.3615G>A (p.Trp1205Ter)
|
rs1346688931
|
|
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)
|
rs782175064
|
|
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys)
|
rs864309526
|
|
NM_006421.5(ARFGEF1):c.4257T>G (p.Tyr1419Ter)
|
|
|
NM_006494.4(ERF):c.517_521dup (p.Ala175fs)
|
rs2146950390
|
|
NM_006516.4(SLC2A1):c.938C>T (p.Ser313Phe)
|
rs794727870
|
|
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)
|
rs1553155986
|
|
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)
|
rs869312704
|
|
NM_006757.4(TNNT3):c.187C>A (p.Arg63Ser)
|
rs199474721
|
|
NM_006767.4(LZTR1):c.993+2T>C
|
|
|
NM_006914.4(RORB):c.8-1G>A
|
rs1587393982
|
|
NM_006941.4(SOX10):c.481C>T (p.Arg161Cys)
|
rs2145768544
|
|
NM_007327.4(GRIN1):c.1922T>C (p.Met641Thr)
|
rs1588732344
|
|
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del)
|
rs2148715376
|
|
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter)
|
rs886041791
|
|
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp)
|
rs1057519946
|
|
NM_014425.5(INVS):c.2949dup (p.Lys984fs)
|
rs1588153872
|
|
NM_014491.4(FOXP2):c.1719G>A (p.Trp573Ter)
|
|
|
NM_014639.4(SKIC3):c.3272del (p.Ile1090_Leu1091insTer)
|
rs752052886
|
|
NM_014795.4(ZEB2):c.3164A>G (p.Tyr1055Cys)
|
rs1135402759
|
|
NM_014975.3(MAST1):c.278C>T (p.Ser93Leu)
|
rs878853165
|
|
NM_015100.4(POGZ):c.1748A>G (p.His583Arg)
|
rs1131692270
|
|
NM_015570.4(AUTS2):c.1486dup (p.Gln496fs)
|
rs869312878
|
|
NM_015874.6(RBPJ):c.155G>C (p.Arg52Thr)
|
|
|
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)
|
|
|
NM_017635.5(KMT5B):c.2497G>T (p.Glu833Ter)
|
rs878853164
|
|
NM_017799.4(TMEM260):c.1869+1G>T
|
rs141599092
|
|
NM_017799.4(TMEM260):c.2082_2086AAGAA[1] (p.Lys696fs)
|
rs568247949
|
|
NM_018486.3(HDAC8):c.737+1G>A
|
rs869312660
|
|
NM_018489.3(ASH1L):c.1907C>G (p.Ser636Ter)
|
rs1198775988
|
|
NM_019066.5(MAGEL2):c.3131C>A (p.Ser1044Ter)
|
rs1267004913
|
|
NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg)
|
rs1554817910
|
|
NM_020719.3(PRR12):c.922_923del (p.His308fs)
|
|
|
NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)
|
|
|
NM_022089.4(ATP13A2):c.1298_1299del (p.Ser433fs)
|
|
|
NM_022167.4(XYLT2):c.1584del (p.Gly529fs)
|
|
|
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val)
|
rs587777449
|
|
NM_022552.5(DNMT3A):c.895A>C (p.Lys299Gln)
|
rs766858016
|
|
NM_022893.4(BCL11A):c.1847del (p.Gly616fs)
|
rs1382819519
|
|
NM_024665.7(TBL1XR1):c.809T>G (p.Phe270Cys)
|
|
|
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys)
|
rs886041093
|
|
NM_031263.4(HNRNPK):c.1123G>T (p.Gly375Trp)
|
rs1588412390
|
|
NM_031263.4(HNRNPK):c.364C>T (p.Gln122Ter)
|
rs2133042086
|
|
NM_031263.4(HNRNPK):c.646-1G>A
|
rs1564062144
|
|
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)
|
rs1556914274
|
|
NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter)
|
rs869312701
|
|
NM_032217.5(ANKRD17):c.2623G>T (p.Glu875Ter)
|
rs1578168407
|
|
NM_032217.5(ANKRD17):c.3271del (p.Cys1091fs)
|
rs2148721126
|
|
NM_032634.4(PIGO):c.1392delinsGA (p.Ile464fs)
|
rs1587167234
|
|
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu)
|
rs2034823903
|
|
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del)
|
rs1131692232
|
|
NM_134261.3(RORA):c.821-1G>C
|
rs2141286878
|
|
NM_145331.3(MAP3K7):c.143G>A (p.Gly48Glu)
|
rs1776911945
|
|
NM_152641.4(ARID2):c.109dup (p.Ile37fs)
|
rs2137959601
|
|
NM_153717.3(EVC):c.393del (p.Asp132fs)
|
rs1437174284
|
|
NM_170606.3(KMT2C):c.7613dup (p.Gln2539fs)
|
rs1554496813
|
|
NM_172107.4(KCNQ2):c.1148+2T>A
|
|
|
NM_173495.3(PTCHD1):c.1434C>G (p.Tyr478Ter)
|
rs751692491
|
|
NM_176787.5(PIGN):c.1557G>A (p.Trp519Ter)
|
rs560010455
|
|
NM_178012.5(TUBB2B):c.1162A>C (p.Met388Leu)
|
rs2113818913
|
|
NM_194454.3(KRIT1):c.1574del (p.Pro525fs)
|
rs1584807148
|
|
NM_198282.4(STING1):c.842G>A (p.Arg281Gln)
|
rs1561482476
|
|
NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter)
|
rs2132991341
|
|
NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter)
|
rs1554686620
|
|
NM_205768.3(ZBTB18):c.1493A>C (p.His498Pro)
|
rs1553270640
|
|
NM_205768.3(ZBTB18):c.160T>C (p.Cys54Arg)
|
rs869312689
|
|
m.3697G>A
|
rs199476122
|
|