NM_018392.5(ZGRF1):c.4087G>A (p.Glu1363Lys)
|
rs76187047
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0.01292
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NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
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rs143944436
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0.00019
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NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
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rs9332964
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0.00016
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NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter)
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rs201037487
|
0.00004
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NM_001059.3(TACR3):c.692C>T (p.Thr231Ile)
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rs764659822
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0.00003
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NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr)
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rs141925609
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0.00002
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NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)
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rs796053483
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0.00001
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NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)
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rs758432471
|
0.00001
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NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln)
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rs1415420832
|
0.00001
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NM_152722.5(HEPACAM):c.803+1G>A
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rs375712202
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0.00001
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10q21.3duplication
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16q24.1duplication
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1q41 duplication
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20p12.1duplication
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2q14.3duplication
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2q24.3deletion
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4q35.2deletion
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5p15.31duplication
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6p22.3duplication
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6q23.3deletion
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7q31.1duplication
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8q24.13duplication
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8q24.3duplication
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GRCh37/hg19 16p13.11(chr16:14927857-16537664)
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GRCh37/hg19 16p13.11-12.3(chr16:15316618-18770833)
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GRCh37/hg19 22q11.22(chr22:22320654-22566334)x1
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GRCh37/hg19 3p26.3-26.1(chr3:73914-4331711)
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GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3
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GRCh38/hg38 17p13.3(chr17:2500691-2687314)
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GRCh38/hg38 2p16.3(chr2:50590007-50802034)
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GRCh38/hg38 5q23.1(chr5:119555413-119745470)
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GRCh38/hg38 Xq28(chrX:152819425-152869723)
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NC_000001.11:g.(?_103175204)_(111410059_?)del
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NC_000001.11:g.(?_204033173)_(208209798_?)del
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NC_000001.11:g.(?_231740970)_(231949671_?)del
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NC_000002.12:g.(?_1852302)_(2191394_?)dup
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NC_000002.12:g.(?_235927172)_(236034017_?)del
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NC_000003.12:g.(?_1133359)_(1192637_?)del
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NC_000003.12:g.(?_1185337)_(1255844_?)del
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NC_000003.12:g.(?_1204527)_(1310468_?)del
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NC_000003.12:g.(?_1247669)_(1285156_?)del
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NC_000003.12:g.(?_60501297)_(60591815_?)del
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NC_000004.12:g.(?_148159332)_(148473475_?)del
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NC_000006.12:g.(?_162035873)_(162195188_?)del
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NC_000006.12:g.(?_162036131)_(162191715_?)del
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NC_000006.12:g.(?_162162293)_(162311859_?)del
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NC_000006.12:g.(?_162184117)_(162211182_?)del
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NC_000006.12:g.(?_162440726)_(162603304_?)del
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NC_000007.14:g.(?_111777402)_(111865491_?)del
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NC_000007.14:g.(?_146655407)_(146796363_?)del
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NC_000007.14:g.(?_152454659)_(158705768_?)del
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NC_000008.11:g.(?_3876145)_(3961401_?)del
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NC_000008.11:g.(?_3914469)_(4157437_?)del
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NC_000008.11:g.(?_4410048)_(4458635_?)del
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NC_000008.11:g.(?_9998540)_(10117911_?)del
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NC_000009.12:g.(?_116611967)_(116683530_?)del
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NC_000010.11:g.(?_53976705)_(54036062_?)del
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NC_000011.10:g.(?_96535656)_(99184810_?)del
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NC_000012.12:g.(?_28125337)_(28231096_?)del
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NC_000013.11:g.(?_35011654)_(35113567_?)del
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NC_000013.11:g.(?_35060502)_(35507109_?)del
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NC_000016.10:g.(?_29390980)_(30215610_?)dup
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NC_000016.10:g.(?_29506378)_(30180574_?)del
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NC_000016.10:g.(?_29506378)_(30180574_?)dup
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NC_000016.10:g.(?_29602174)_(30178709_?)dup
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NC_000016.10:g.(?_29685652)_(30180586_?)dup
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NC_000016.10:g.(?_6759006)_(6789572_?)del
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NC_000017.11:g.(?_14183541)_(15573247_?)del
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NC_000018.10:g.(?_10000)_(1543845_?)del
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NC_000019.10:g.(?_17607118)_(17624457_?)del
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NC_000020.11:g.(?_14490624)_(14573076_?)del
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NC_000020.11:g.(?_15307783)_(15453889_?)del
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NC_000020.11:g.(?_25564868)_(25611357_?)del
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NC_000020.11:g.(?_42303583)_(42488707_?)del
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NC_000020.11:g.(?_42461895)_(42648116_?)del
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NC_000020.11:g.(?_42526267)_(42726111_?)del
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NC_000020.11:g.(?_42579501)_(42691367_?)del
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NC_000021.9:g.(?_38981673)_(41568791_?)del
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NC_000022.11:g.(?_21959229)_(22218520_?)del
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NC_000023.11:g.(?_31660226)_(31820401_?)del
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NC_000023.11:g.(?_32345828)_(32377888_?)del
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NC_000023.11:g.(?_44209146)_(46109507_?)del
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NC_000023.11:g.(?_4692064)_(6048196_?)del
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NC_000023.11:g.(?_80671287)_(80671570_?)dup
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NM_000193.4(SHH):c.206A>T (p.Asn69Ile)
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rs777486607
|
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NM_000314.8(PTEN):c.-116dup
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rs1564801388
|
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NM_000314.8(PTEN):c.-60dup
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rs1564801473
|
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NM_000693.4(ALDH1A3):c.1514T>C (p.Ile505Thr)
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rs797046134
|
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NM_000827.4(GRIA1):c.2234G>A (p.Gly745Asp)
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rs1561846159
|
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NM_001029896.2(WDR45):c.225dup (p.Glu76fs)
|
rs1602540235
|
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NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)
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rs1841141204
|
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NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)
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rs796053356
|
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NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp)
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rs2063451959
|
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NM_001042492.3(NF1):c.1721+21dup
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rs762735676
|
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NM_001042681.2(RERE):c.2278C>T (p.Gln760Ter)
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rs1641565884
|
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NM_001080517.3(SETD5):c.2591dup (p.Ser865fs)
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rs2044336029
|
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NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly)
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|
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NM_001111125.3(IQSEC2):c.1229del (p.Pro410fs)
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rs1569305431
|
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NM_001111125.3(IQSEC2):c.2854C>T (p.Gln952Ter)
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rs1057518993
|
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NM_001129.5(AEBP1):c.2604C>A (p.Cys868Ter)
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|
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NM_001161352.2(KCNMA1):c.1845C>G (p.Phe615Leu)
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|
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NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His)
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rs121917994
|
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NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val)
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rs1064795655
|
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NM_001170629.2(CHD8):c.3519-2A>G
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rs1594344233
|
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NM_001172509.2(SATB2):c.1861A>T (p.Ile621Phe)
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rs1692190479
|
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NM_001197104.2(KMT2A):c.10835+1G>A
|
|
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NM_001271.4(CHD2):c.3427T>G (p.Tyr1143Asp)
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|
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NM_001282531.3(ADNP):c.2250_2274del (p.Val751fs)
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rs1980878343
|
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NM_001289080.2(CNTN6):c.1492+1G>T
|
|
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NM_001320.7(CSNK2B):c.72+1G>T
|
|
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NM_001323289.2(CDKL5):c.2626A>G (p.Ile876Val)
|
|
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NM_001330260.2(SCN8A):c.4892T>C (p.Ile1631Thr)
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rs1085307999
|
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NM_001330700.2(TOP2B):c.187C>T (p.His63Tyr)
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rs886039770
|
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NM_001349338.3(FOXP1):c.1348+2T>C
|
rs1057518999
|
|
NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro)
|
rs397514627
|
|
NM_001369369.1(FOXN1):c.146C>T (p.Ser49Leu)
|
rs797046135
|
|
NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter)
|
rs1554301257
|
|
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter)
|
rs794727977
|
|
NM_001376.5(DYNC1H1):c.4396-1G>C
|
|
|
NM_001379110.1(SLC9A6):c.1662-19_1662-3del
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rs1569525894
|
|
NM_001386298.1(CIC):c.4981delinsCTTCCC (p.Thr1661fs)
|
|
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NM_001388303.1(HECTD4):c.9724dup (p.Ala3242fs)
|
|
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NM_001394998.1(TANC2):c.1441+1G>A
|
rs2045256930
|
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NM_001394998.1(TANC2):c.3418C>T (p.Arg1140Ter)
|
rs2048464266
|
|
NM_001394998.1(TANC2):c.769+1G>A
|
rs1419550439
|
|
NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)
|
|
|
NM_001854.4(COL11A1):c.2752A>G (p.Arg918Gly)
|
rs2101678782
|
|
NM_002397.5(MEF2C):c.301C>A (p.Pro101Thr)
|
|
|
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)
|
rs796052728
|
|
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
|
|
|
NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter)
|
rs1569513495
|
|
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)
|
rs1601405064
|
|
NM_003797.5(EED):c.767T>C (p.Met256Thr)
|
|
|
NM_004115.4(FGF14):c.486dup (p.Arg163fs)
|
rs1566823361
|
|
NM_004603.4(STX1A):c.668_670del (p.Val223del)
|
rs2116730968
|
|
NM_004603.4(STX1A):c.722_724del (p.Val241del)
|
rs2116724168
|
|
NM_004973.4(JARID2):c.348G>T (p.Lys116Asn)
|
|
|
NM_005215.4(DCC):c.617A>T (p.Asp206Val)
|
|
|
NM_005445.4(SMC3):c.2413C>T (p.Arg805Cys)
|
rs760111391
|
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NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala)
|
|
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NM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter)
|
|
|
NM_006035.4(CDC42BPB):c.523G>T (p.Asp175Tyr)
|
rs1595127294
|
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NM_006186.4(NR4A2):c.598_601dup (p.Pro201fs)
|
rs1686821540
|
|
NM_006321.4(ARIH2):c.1411-3C>T
|
|
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NM_006766.5(KAT6A):c.1582C>T (p.Pro528Ser)
|
rs1822869930
|
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NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg)
|
|
|
NM_014141.6(CNTNAP2):c.1778-1G>C
|
rs1396313317
|
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NM_014159.7(SETD2):c.5122C>T (p.Arg1708Ter)
|
|
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NM_014704.4(CEP104):c.1241T>A (p.Leu414Ter)
|
|
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NM_014712.3(SETD1A):c.2981_2982del (p.Val994fs)
|
|
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NM_014727.3(KMT2B):c.121G>T (p.Glu41Ter)
|
rs1969025340
|
|
NM_014989.7(RIMS1):c.1679-20550G>A
|
|
|
NM_014991.6(WDFY3):c.2932A>T (p.Arg978Ter)
|
rs1749810683
|
|
NM_015001.3(SPEN):c.7232C>A (p.Ser2411Ter)
|
|
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NM_015021.3(ZNF292):c.8026G>A (p.Asp2676Asn)
|
|
|
NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)
|
|
|
NM_015100.4(POGZ):c.3048G>T (p.Glu1016Asp)
|
rs1653514334
|
|
NM_015151.4(DIP2A):c.1429+2T>G
|
|
|
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter)
|
rs1592919048
|
|
NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter)
|
rs2011568558
|
|
NM_015570.4(AUTS2):c.983_984del (p.Thr328fs)
|
|
|
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)
|
rs1131692228
|
|
NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly)
|
rs1562851259
|
|
NM_016604.4(KDM3B):c.3047-1G>A
|
|
|
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser)
|
rs1555028104
|
|
NM_018263.6(ASXL2):c.2326A>C (p.Thr776Pro)
|
|
|
NM_018392.5(ZGRF1):c.142C>A (p.Leu48Met)
|
rs61745597
|
|
NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)
|
|
|
NM_021008.4(DEAF1):c.664+2T>G
|
rs1564950387
|
|
NM_022552.5(DNMT3A):c.745C>T (p.Gln249Ter)
|
|
|
NM_031466.8(TRAPPC9):c.-68C>T
|
|
|
NM_057175.5(NAA15):c.55-2A>C
|
|
|
NM_138615.3(DHX30):c.1685A>G (p.His562Arg)
|
rs1060499733
|
|
NM_173495.3(PTCHD1):c.898G>C (p.Gly300Arg)
|
rs1922524280
|
|
NM_173569.4(UBN2):c.2024+1G>A
|
rs1585016242
|
|
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter)
|
rs1034583315
|
|
Single allele
|
|
|