NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00053
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
NM_017866.6(TMEM70):c.317-2A>G
|
rs183973249
|
0.00011
|
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)
|
rs121918548
|
0.00007
|
NM_145207.3(AFG2A):c.251G>A (p.Arg84Gln)
|
rs745858366
|
0.00006
|
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter)
|
rs749465164
|
0.00004
|
NM_001114748.2(TMEM240):c.511C>T (p.Arg171Trp)
|
rs606231455
|
0.00002
|
NM_001195518.2(MICU1):c.385C>T (p.Arg129Ter)
|
rs369069489
|
0.00002
|
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs)
|
rs770566897
|
0.00002
|
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
|
rs760676442
|
0.00002
|
NM_017736.5(THUMPD1):c.706C>T (p.Gln236Ter)
|
rs778649204
|
0.00002
|
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)
|
rs587783771
|
0.00001
|
NM_001206744.2(TPO):c.1477G>A (p.Gly493Ser)
|
rs778515113
|
0.00001
|
NM_013450.4(BAZ2B):c.628C>T (p.Arg210Ter)
|
rs780189423
|
0.00001
|
NM_017736.5(THUMPD1):c.341T>G (p.Leu114Ter)
|
rs1470272788
|
0.00001
|
NM_017872.5(THG1L):c.529C>T (p.Gln177Ter)
|
rs1231208679
|
0.00001
|
NM_022552.5(DNMT3A):c.917G>A (p.Trp306Ter)
|
rs1465829182
|
0.00001
|
NM_198576.4(AGRN):c.4744G>A (p.Gly1582Arg)
|
rs1367262797
|
0.00001
|
GRCh37/hg19 2q24.2(chr2:160124451-160219840)x1
|
|
|
GRCh37/hg19 2q24.2(chr2:160124451-160511552)x1
|
|
|
GRCh37/hg19 9p13.2-13.1(chr9:36426622-38787479)x1
|
|
|
GRCh37/hg19 9p13.2-13.1(chr9:36442195-39156958)x1
|
|
|
GRCh37/hg19 9p13.3-13.1(chr9:36088563-39092820)x1
|
|
|
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1
|
|
|
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1
|
|
|
GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1
|
|
|
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3
|
|
|
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3
|
|
|
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3
|
|
|
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3
|
|
|
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1
|
|
|
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3
|
|
|
NM_000048.4(ASL):c.1045_1057del (p.Val349fs)
|
rs796051933
|
|
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)
|
rs1571158279
|
|
NM_000548.5(TSC2):c.924del (p.Leu309fs)
|
rs2151108081
|
|
NM_000719.7(CACNA1C):c.1159dup (p.Thr387fs)
|
rs2154577568
|
|
NM_001003694.2(BRPF1):c.362_363del (p.Glu121fs)
|
rs1057519511
|
|
NM_001032221.6(STXBP1):c.795-1G>A
|
rs1554777708
|
|
NM_001042475.3(CEP85L):c.232+1G>T
|
rs1774227158
|
|
NM_001080517.3(SETD5):c.2302C>T (p.Arg768Ter)
|
rs864321657
|
|
NM_001080517.3(SETD5):c.536del (p.Gly179fs)
|
rs2125111475
|
|
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs)
|
rs398123561
|
|
NM_001110556.2(FLNA):c.7058T>C (p.Phe2353Ser)
|
rs2148102210
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.953G>A (p.Arg318His)
|
rs61751443
|
|
NM_001128126.3(AP4S1):c.138+3_138+6del
|
rs876661295
|
|
NM_001163435.3(TBCK):c.658+1G>A
|
rs1579395680
|
|
NM_001170629.2(CHD8):c.3724C>T (p.Arg1242Ter)
|
rs1555314788
|
|
NM_001170629.2(CHD8):c.5856_5863dup (p.Phe1955fs)
|
|
|
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)
|
rs1553547838
|
|
NM_001195518.2(MICU1):c.40del (p.Ala14fs)
|
rs749124658
|
|
NM_001195553.2(DCX):c.608C>G (p.Thr203Arg)
|
rs104894782
|
|
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met)
|
rs2053619460
|
|
NM_001281775.3(ZMYND8):c.1960_1964del (p.Lys654fs)
|
|
|
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)
|
rs1135401808
|
|
NM_001291415.2(KDM6A):c.2128C>T (p.Arg710Ter)
|
rs755440519
|
|
NM_001303052.2(MYT1L):c.1807del (p.Arg603fs)
|
rs2149016192
|
|
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)
|
rs1064795559
|
|
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys)
|
rs1602510200
|
|
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)
|
rs1567203083
|
|
NM_001320.7(CSNK2B):c.410G>A (p.Cys137Tyr)
|
rs2151188789
|
|
NM_001320.7(CSNK2B):c.495_496del (p.Met166fs)
|
rs2151188957
|
|
NM_001321571.2(CAMK2D):c.236G>A (p.Ser79Asn)
|
|
|
NM_001321571.2(CAMK2D):c.275+1G>T
|
|
|
NM_001321571.2(CAMK2D):c.416C>T (p.Pro139Leu)
|
|
|
NM_001321571.2(CAMK2D):c.821A>C (p.Gln274Pro)
|
|
|
NM_001321571.2(CAMK2D):c.824G>A (p.Arg275His)
|
|
|
NM_001321571.2(CAMK2D):c.873G>C (p.Leu291Phe)
|
|
|
NM_001321571.2(CAMK2D):c.881T>C (p.Phe294Ser)
|
|
|
NM_001330260.2(SCN8A):c.755C>G (p.Ser252Ter)
|
|
|
NM_001348323.3(TRIP12):c.2118_2119insT (p.Thr707fs)
|
rs2154278573
|
|
NM_001351169.2(NT5C2):c.1449+2T>C
|
rs753295868
|
|
NM_001353345.2(SETD1B):c.22dup (p.His8fs)
|
|
|
NM_001356.5(DDX3X):c.488dup (p.Tyr163Ter)
|
rs2147350843
|
|
NM_001356.5(DDX3X):c.614C>T (p.Pro205Leu)
|
rs2147351801
|
|
NM_001366521.1(ATP2B1):c.2632C>T (p.Gln878Ter)
|
rs1033577592
|
|
NM_001367479.1(DNAH14):c.6166C>T (p.Arg2056Ter)
|
|
|
NM_001367721.1(CASK):c.2252_2253del (p.Gly751fs)
|
rs2147095950
|
|
NM_001367721.1(CASK):c.38_39del (p.Glu13fs)
|
|
|
NM_001371928.1(AHDC1):c.2432C>A (p.Ser811Ter)
|
|
|
NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter)
|
rs1057519522
|
|
NM_001375765.1(GIGYF1):c.2498dup (p.Gly834fs)
|
rs776212530
|
|
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)
|
rs397514535
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378615.1(CC2D2A):c.2671G>A (p.Glu891Lys)
|
rs863225178
|
|
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys)
|
rs797044916
|
|
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)
|
rs1553631860
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_002373.6(MAP1A):c.5484_5485del (p.Met1829fs)
|
rs2140209334
|
|
NM_002397.5(MEF2C):c.-8C>T
|
rs2153222958
|
|
NM_002397.5(MEF2C):c.45dup (p.Asn16Ter)
|
rs1554150552
|
|
NM_002830.4(PTPN4):c.2338C>T (p.Gln780Ter)
|
rs2105059931
|
|
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)
|
rs397507545
|
|
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg)
|
rs1553689696
|
|
NM_003070.5(SMARCA2):c.3602C>A (p.Ala1201Glu)
|
rs281875189
|
|
NM_003128.3(SPTBN1):c.4718dup (p.Trp1574fs)
|
rs2104068395
|
|
NM_003470.3(USP7):c.3052C>T (p.Arg1018Ter)
|
rs1272068741
|
|
NM_003482.4(KMT2D):c.13889dup (p.Pro4631fs)
|
rs2120403375
|
|
NM_004380.3(CREBBP):c.4133G>A (p.Arg1378Gln)
|
rs121434626
|
|
NM_004491.5(ARHGAP35):c.2814dup (p.Lys939Ter)
|
|
|
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)
|
rs2051507892
|
|
NM_004656.4(BAP1):c.146T>C (p.Leu49Pro)
|
rs2153228340
|
|
NM_004656.4(BAP1):c.176G>C (p.Arg59Pro)
|
rs1298276806
|
|
NM_004656.4(BAP1):c.2153G>A (p.Arg718Gln)
|
rs1440748203
|
|
NM_004656.4(BAP1):c.271T>C (p.Cys91Arg)
|
rs1705222655
|
|
NM_004656.4(BAP1):c.271T>G (p.Cys91Gly)
|
rs1705222655
|
|
NM_004656.4(BAP1):c.272G>C (p.Cys91Ser)
|
rs1559591264
|
|
NM_004656.4(BAP1):c.34C>A (p.Pro12Thr)
|
rs2153228682
|
|
NM_004656.4(BAP1):c.34C>G (p.Pro12Ala)
|
rs2153228682
|
|
NM_004656.4(BAP1):c.506A>G (p.His169Arg)
|
rs2153227828
|
|
NM_004656.4(BAP1):c.91G>A (p.Glu31Lys)
|
rs2153228535
|
|
NM_004973.4(JARID2):c.176_177del (p.Val59fs)
|
rs2127515878
|
|
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)
|
rs786205232
|
|
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn)
|
rs267606706
|
|
NM_005249.5(FOXG1):c.1414_1417del (p.Ser472fs)
|
rs1881828200
|
|
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe)
|
rs1566445489
|
|
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)
|
rs587784491
|
|
NM_006186.4(NR4A2):c.325dup (p.Gln109fs)
|
rs774629025
|
|
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr)
|
rs1762178916
|
|
NM_006493.4:c.679C>T
|
|
|
NM_006521.6(TFE3):c.350G>A (p.Arg117Gln)
|
rs2147777346
|
|
NM_006593.4(TBR1):c.381del (p.Gly128fs)
|
rs2105278359
|
|
NM_006766.5(KAT6A):c.1506del (p.Asp503fs)
|
rs2150871384
|
|
NM_006772.3(SYNGAP1):c.936dup (p.Glu313fs)
|
rs2151168879
|
|
NM_006852.6(TLK2):c.968+1G>C
|
rs1598620094
|
|
NM_007327.4(GRIN1):c.2479G>A (p.Gly827Arg)
|
rs1451230055
|
|
NM_012309.5(SHANK2):c.601dup (p.Leu201fs)
|
rs1555094999
|
|
NM_012330.4(KAT6B):c.3349_3350del (p.Gln1117fs)
|
|
|
NM_012330.4(KAT6B):c.5058C>A (p.Tyr1686Ter)
|
rs1381894692
|
|
NM_013275.6(ANKRD11):c.5469del (p.Met1825fs)
|
|
|
NM_013275.6(ANKRD11):c.6923del (p.Gly2308fs)
|
rs2151732245
|
|
NM_013275.6(ANKRD11):c.6928_6934del (p.Ile2310fs)
|
rs2151732133
|
|
NM_013450.4(BAZ2B):c.2126G>A (p.Cys709Tyr)
|
rs1576949430
|
|
NM_013450.4(BAZ2B):c.242C>G (p.Ser81Ter)
|
rs767318278
|
|
NM_013450.4(BAZ2B):c.5036A>T (p.Glu1679Val)
|
rs1575883384
|
|
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln)
|
rs2066044949
|
|
NM_014681.6(DHX34):c.2327G>C (p.Arg776Pro)
|
rs764483792
|
|
NM_014712.3(SETD1A):c.1256_1259dup (p.Thr421fs)
|
rs2143491920
|
|
NM_014795.4(ZEB2):c.3088C>T (p.Gln1030Ter)
|
rs903815010
|
|
NM_014795.4(ZEB2):c.3149C>G (p.Ser1050Trp)
|
rs1226638635
|
|
NM_014991.6(WDFY3):c.3579G>A (p.Trp1193Ter)
|
|
|
NM_015021.3(ZNF292):c.4839_4840del (p.Asn1614fs)
|
rs2127867376
|
|
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)
|
rs1301328139
|
|
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)
|
rs1057518170
|
|
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)
|
rs869320764
|
|
NM_015100.4(POGZ):c.712C>T (p.Arg238Ter)
|
rs1557910873
|
|
NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter)
|
rs2137378964
|
|
NM_015335.5(MED13L):c.2950C>T (p.Gln984Ter)
|
rs1376289620
|
|
NM_015335.5(MED13L):c.3760_3761del (p.Leu1254fs)
|
rs2137305263
|
|
NM_015909.4(NBAS):c.603_605del (p.Leu202del)
|
rs796065038
|
|
NM_016333.4(SRRM2):c.1882C>T (p.Arg628Ter)
|
rs1464581573
|
|
NM_016333.4(SRRM2):c.2214_2215del (p.Arg739fs)
|
rs2150775947
|
|
NM_016333.4(SRRM2):c.2782_2785del (p.Arg928fs)
|
rs2150776380
|
|
NM_016333.4(SRRM2):c.2970_2971del (p.Gly991fs)
|
rs2150776534
|
|
NM_016333.4(SRRM2):c.3346C>T (p.Gln1116Ter)
|
rs2150776793
|
|
NM_016333.4(SRRM2):c.3426_3427del (p.Ser1143fs)
|
rs2150776824
|
|
NM_016333.4(SRRM2):c.4200_4203dup (p.Ile1402fs)
|
rs2150777403
|
|
NM_016333.4(SRRM2):c.4512_4578del (p.Asn1506fs)
|
rs2150777611
|
|
NM_016333.4(SRRM2):c.4528_4529del (p.Leu1510fs)
|
rs2150777620
|
|
NM_016333.4(SRRM2):c.4616C>A (p.Ser1539Ter)
|
rs760736029
|
|
NM_016333.4(SRRM2):c.4913C>G (p.Ser1638Ter)
|
rs2150777933
|
|
NM_016333.4(SRRM2):c.5074C>T (p.Arg1692Ter)
|
rs2150778065
|
|
NM_016333.4(SRRM2):c.5410_5411dup (p.Ser1804fs)
|
rs2150778293
|
|
NM_016333.4(SRRM2):c.58C>T (p.Gln20Ter)
|
rs764663923
|
|
NM_016333.4(SRRM2):c.6042_6043del (p.Arg2015fs)
|
rs2150778741
|
|
NM_016333.4(SRRM2):c.6127C>T (p.Arg2043Ter)
|
rs747576963
|
|
NM_016333.4(SRRM2):c.6265C>T (p.Arg2089Ter)
|
rs2150778921
|
|
NM_016333.4(SRRM2):c.6709dup (p.Ala2237fs)
|
rs2150779172
|
|
NM_016333.4(SRRM2):c.7254_7257del (p.Met2419fs)
|
rs2150779549
|
|
NM_016604.4(KDM3B):c.331C>T (p.Arg111Ter)
|
rs2126922810
|
|
NM_016628.5(WAC):c.485_486del (p.Glu162fs)
|
|
|
NM_016734.3(PAX5):c.1129C>T (p.Arg377Ter)
|
rs377685637
|
|
NM_016734.3(PAX5):c.157G>C (p.Asp53His)
|
rs1337956293
|
|
NM_016734.3(PAX5):c.419G>A (p.Arg140Gln)
|
rs2132424384
|
|
NM_016734.3(PAX5):c.661C>T (p.Arg221Trp)
|
rs2132194720
|
|
NM_016734.3(PAX5):c.962C>A (p.Pro321His)
|
rs577863510
|
|
NM_017736.5(THUMPD1):c.303_306del (p.Glu102fs)
|
rs2152419456
|
|
NM_017736.5(THUMPD1):c.469C>T (p.Arg157Ter)
|
rs2152417926
|
|
NM_017736.5(THUMPD1):c.490C>T (p.Pro164Ser)
|
rs151261045
|
|
NM_017736.5(THUMPD1):c.495dup (p.Ser166fs)
|
rs2152417882
|
|
NM_017736.5(THUMPD1):c.634dup (p.Glu212fs)
|
rs2152417708
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018489.3(ASH1L):c.3860_3861del (p.Phe1287fs)
|
|
|
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)
|
rs770374710
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_020719.3(PRR12):c.4344del (p.Glu1449fs)
|
rs2122311106
|
|
NM_020778.5(ALPK3):c.4154del (p.Pro1385fs)
|
rs568699617
|
|
NM_020791.4(TAOK1):c.1303C>T (p.Arg435Ter)
|
rs2153028697
|
|
NM_020791.4(TAOK1):c.2125C>T (p.Arg709Ter)
|
rs1347078601
|
|
NM_020791.4(TAOK1):c.2161C>T (p.Gln721Ter)
|
rs2150772043
|
|
NM_020922.5(WNK3):c.1089+1G>A
|
|
|
NM_020922.5(WNK3):c.1820A>T (p.Glu607Val)
|
|
|
NM_020922.5(WNK3):c.538-2A>G
|
|
|
NM_020922.5(WNK3):c.611C>G (p.Pro204Arg)
|
|
|
NM_020922.5(WNK3):c.721C>T (p.Arg241Ter)
|
|
|
NM_020922.5(WNK3):c.899T>C (p.Leu300Ser)
|
|
|
NM_022455.5(NSD1):c.2615T>G (p.Leu872Ter)
|
rs1581321573
|
|
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter)
|
rs587784209
|
|
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)
|
rs377577594
|
|
NM_024721.5(ZFHX4):c.5695C>T (p.Arg1899Ter)
|
rs1563560495
|
|
NM_030632.3(ASXL3):c.3403_3405delinsCC (p.Ser1135fs)
|
rs2145424188
|
|
NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter)
|
rs1204482456
|
|
NM_030954.4(RNF170):c.342C>G (p.Tyr114Ter)
|
rs2128929811
|
|
NM_033109.5:c.652A>T
|
|
|
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)
|
rs762292772
|
|
NM_052867.4(NALCN):c.4654G>A (p.Glu1552Lys)
|
rs2139408863
|
|
NM_052874.5(STX1B):c.140C>A (p.Ser47Ter)
|
rs200979563
|
|
NM_057175.5(NAA15):c.430C>T (p.Arg144Ter)
|
rs1560966086
|
|
NM_130837.3(OPA1):c.1051G>C (p.Asp351His)
|
rs1577228080
|
|
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu)
|
rs587781239
|
|
NM_138572.3(TAF8):c.719_720del (p.Thr240fs)
|
rs2127459499
|
|
NM_138572.3(TAF8):c.806_809del (p.Asn269fs)
|
rs2127464524
|
|
NM_152269.5(MTRFR):c.-28-1489_283-968del
|
|
|
NM_152641.4(ARID2):c.2734C>T (p.Gln912Ter)
|
rs2138165644
|
|
NM_170606.3(KMT2C):c.7825C>T (p.Arg2609Ter)
|
rs2129115127
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172362.3(KCNH1):c.1136T>C (p.Leu379Pro)
|
rs878853026
|
|
NM_181552.4(CUX1):c.1687C>T (p.Gln563Ter)
|
rs1794879475
|
|
NM_182931.3(KMT2E):c.2107G>T (p.Glu703Ter)
|
rs1798679896
|
|
NM_197968.4(ZMYM2):c.1013T>G (p.Leu338Ter)
|
|
|
Single allele
|
|
|