ClinVar Miner

List of variants studied for autism spectrum disorder

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 618
Download table as spreadsheet
HGVS dbSNP
10q21.3duplication
15q11.2-12duplication
15q13.3duplication
15q25.3duplication
16q24.1duplication
1q41 duplication
1q42.2deletion
20p12.1duplication
22q11.21deletion
2q14.3duplication
2q24.3deletion
2q37.3deletion
4q35.2deletion
5p15.31duplication
6p22.3duplication
6q23.3deletion
7q31.1duplication
7q31.32deletion
7q32.3duplication
7q35 duplication
8q24.13duplication
8q24.3duplication
9p24.1deletion
GRCh37/hg19 15q11.2(chr15:22765628-23085096)
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)
GRCh37/hg19 16p11.2(chr16:29673954-30198600)
GRCh37/hg19 16p13.3(chr16:3784414-3821324)
GRCh37/hg19 22q11.21(chr22:20030799-20068380)x1
GRCh37/hg19 22q11.22(chr22:22320654-22566334)x1
GRCh37/hg19 22q13.33(chr22:51123491-51219009)
GRCh37/hg19 2q11.1(chr2:95945437-96259086)x3
GRCh37/hg19 3p26.3-26.1(chr3:73914-4331711)
GRCh37/hg19 3q29(chr3:195457650-196263123)
GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3
GRCh37/hg19 4p16.3(chr4:374557-745174)
GRCh37/hg19 6q21(chr6:107331934-108121759)
GRCh37/hg19 7q21.13-21.2(chr7:90054667-91313448)
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)
GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)
GRCh37/hg19 9p24.3(chr9:204193-340142)
GRCh37/hg19 Xp22.31(chrX:6488721-8097511)
NC_000001.11:g.(?_103175204)_(111410059_?)del
NC_000001.11:g.(?_204033173)_(208209798_?)del
NC_000001.11:g.(?_231740970)_(231949671_?)del
NC_000002.12:g.(?_148157591)_(148226058_?)del
NC_000002.12:g.(?_235927172)_(236034017_?)del
NC_000002.12:g.(?_50496341)_(51317388_?)del
NC_000002.12:g.(?_51001206)_(51200739_?)del
NC_000003.12:g.(?_1133359)_(1192637_?)del
NC_000003.12:g.(?_1185337)_(1255844_?)del
NC_000003.12:g.(?_1204527)_(1310468_?)del
NC_000003.12:g.(?_1247669)_(1285156_?)del
NC_000003.12:g.(?_60501297)_(60591815_?)del
NC_000004.12:g.(?_148159332)_(148473475_?)del
NC_000006.12:g.(?_162035873)_(162195188_?)del
NC_000006.12:g.(?_162036131)_(162191715_?)del
NC_000006.12:g.(?_162162293)_(162311859_?)del
NC_000006.12:g.(?_162184117)_(162211182_?)del
NC_000006.12:g.(?_162440726)_(162603304_?)del
NC_000007.14:g.(?_111777402)_(111865491_?)del
NC_000007.14:g.(?_146655407)_(146796363_?)del
NC_000007.14:g.(?_152454659)_(158705768_?)del
NC_000008.11:g.(?_3876145)_(3961401_?)del
NC_000008.11:g.(?_3914469)_(4157437_?)del
NC_000008.11:g.(?_4410048)_(4458635_?)del
NC_000008.11:g.(?_9998540)_(10117911_?)del
NC_000009.12:g.(?_116611967)_(116683530_?)del
NC_000010.11:g.(?_53976705)_(54036062_?)del
NC_000011.10:g.(?_48359351)_(48946475_?)del
NC_000011.10:g.(?_96535656)_(99184810_?)del
NC_000012.12:g.(?_28125337)_(28231096_?)del
NC_000013.11:g.(?_35011654)_(35113567_?)del
NC_000013.11:g.(?_35060502)_(35507109_?)del
NC_000015.10:g.(?_22444190)_(23226874_?)del
NC_000015.10:g.(?_22570470)_(23226874_?)del
NC_000015.10:g.(?_22673143)_(23226874_?)del
NC_000015.10:g.(?_22751662)_(23126124_?)del
NC_000015.10:g.(?_22770232)_(23126124_?)del
NC_000015.10:g.(?_30568981)_(32151126_?)del
NC_000015.10:g.(?_30568981)_(32318632_?)del
NC_000016.10:g.(?_14757009)_(16763184_?)del
NC_000016.10:g.(?_29480853)_(30254620_?)del
NC_000016.10:g.(?_29506378)_(30180574_?)del
NC_000016.10:g.(?_6759006)_(6789572_?)del
NC_000017.11:g.(?_14183541)_(15573247_?)del
NC_000017.11:g.(?_16770855)_(20585863_?)del
NC_000017.11:g.(?_36143765)_(37995300_?)del
NC_000017.11:g.(?_36446252)_(37887875_?)del
NC_000018.10:g.(?_10000)_(1543845_?)del
NC_000019.10:g.(?_17607118)_(17624457_?)del
NC_000020.11:g.(?_14490624)_(14573076_?)del
NC_000020.11:g.(?_15307783)_(15453889_?)del
NC_000020.11:g.(?_25564868)_(25611357_?)del
NC_000020.11:g.(?_42303583)_(42488707_?)del
NC_000020.11:g.(?_42461895)_(42648116_?)del
NC_000020.11:g.(?_42526267)_(42726111_?)del
NC_000020.11:g.(?_42579501)_(42691367_?)del
NC_000021.9:g.(?_38981673)_(41568791_?)del
NC_000022.11:g.(?_21959229)_(22218520_?)del
NC_000023.11:g.(?_31660226)_(31820401_?)del
NC_000023.11:g.(?_32345828)_(32377888_?)del
NC_000023.11:g.(?_44209146)_(46109507_?)del
NC_000023.11:g.(?_4692064)_(6048196_?)del
NM_000036.2(AMPD1):c.1449C>G (p.Cys483Trp) rs587779369
NM_000036.2(AMPD1):c.1498C>T (p.Arg500Cys) rs587779370
NM_000036.2(AMPD1):c.1569C>T (p.Thr523=) rs587779371
NM_000036.2(AMPD1):c.1714C>T (p.Pro572Ser) rs587779372
NM_000036.2(AMPD1):c.1877C>G (p.Ser626Cys) rs587779373
NM_000036.2(AMPD1):c.2042C>T (p.Thr681Ile) rs587779374
NM_000036.2(AMPD1):c.31C>G (p.Gln11Glu) rs587779375
NM_000036.2(AMPD1):c.606T>G (p.Ile202Met) rs542684385
NM_000036.2(AMPD1):c.608A>T (p.Asp203Val) rs572362619
NM_000036.2(AMPD1):c.639C>T (p.Phe213=) rs587779376
NM_000036.2(AMPD1):c.702T>A (p.Pro234=) rs587779377
NM_000036.2(AMPD1):c.70G>A (p.Ala24Thr) rs587779378
NM_000036.2(AMPD1):c.826G>A (p.Asp276Asn) rs587779379
NM_000110.4(DPYD):c.1905+1G>A rs3918290
NM_000228.3(LAMB3):c.133T>G (p.Ser45Ala) rs796051883
NM_000240.4(MAOA):c.331G>A (p.Ala111Thr)
NM_000267.3(NF1):c.1721+21dup rs762735676
NM_000314.7(PTEN):c.-116dup rs1564801388
NM_000314.7(PTEN):c.-60dup rs1564801473
NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter) rs1571164333
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483
NM_000548.5(TSC2):c.1597A>C (p.Lys533Gln) rs397515038
NM_000548.5(TSC2):c.190A>G (p.Ile64Val) rs397515081
NM_000548.5(TSC2):c.2183G>T (p.Cys728Phe) rs397514908
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.2861A>G (p.Lys954Arg) rs397515191
NM_000548.5(TSC2):c.2879C>T (p.Ser960Phe) rs397514898
NM_000548.5(TSC2):c.2950G>C (p.Glu984Gln) rs397515156
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.5(TSC2):c.454C>G (p.His152Asp) rs397515285
NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr) rs397515110
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr) rs201206500
NM_000693.4(ALDH1A3):c.1514T>C (p.Ile505Thr) rs797046134
NM_000827.4(GRIA1):c.2234G>A (p.Gly745Asp) rs1561846159
NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter) rs121912562
NM_001005273.3(CHD3):c.211C>T (p.Arg71Cys)
NM_001024843.2(TNRC6B):c.46-2A>G
NM_001029896.2(WDR45):c.225dup (p.Glu76fs) rs1602540235
NM_001032221.6(STXBP1):c.1359+1G>T rs796053370
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)
NM_001039523.3(CHRNA1):c.1396G>A (p.Gly466Arg) rs768407867
NM_001040142.2(SCN2A):c.2229_2230del (p.Lys743fs) rs1057518658
NM_001042681.2(RERE):c.1768A>C (p.Lys590Gln)
NM_001042681.2(RERE):c.2278C>T (p.Gln760Ter)
NM_001068.3(TOP2B):c.172C>T (p.His58Tyr) rs886039770
NM_001077242.2(DEPDC7):c.763A>T (p.Lys255Ter)
NM_001080517.3(SETD5):c.2591dup (p.Ser865fs)
NM_001093.4(ACACB):c.1963A>G (p.Ser655Gly)
NM_001111125.3(IQSEC2):c.1229del (p.Pro410fs) rs1569305431
NM_001111125.3(IQSEC2):c.2854C>T (p.Gln952Ter) rs1057518993
NM_001143831.3(GRM5):c.523A>G (p.Thr175Ala)
NM_001145358.2(SIN3A):c.1159G>A (p.Val387Met)
NM_001148.6(ANK2):c.9905C>G (p.Ser3302Cys)
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) rs121918818
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) rs121917994
NM_001170629.2(CHD8):c.2345del (p.His782fs) rs886039692
NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter) rs1131691548
NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val) rs1064795655
NM_001170629.2(CHD8):c.3454G>A (p.Val1152Ile)
NM_001170629.2(CHD8):c.3519-2A>G rs1594344233
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) rs1454466097
NM_001170629.2(CHD8):c.4846G>C (p.Asp1616His)
NM_001170629.2(CHD8):c.4904T>C (p.Ile1635Thr)
NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs) rs774152851
NM_001170629.2(CHD8):c.7258C>T (p.Arg2420Cys)
NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter)
NM_001172509.2(SATB2):c.1861A>T (p.Ile621Phe)
NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs)
NM_001204403.1(ANK3):c.-739C>T rs112339619
NM_001244810.1(FOXP1):c.1348+2T>C rs1057518999
NM_001270.4(CHD1):c.3113G>T (p.Arg1038Ile)
NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr) rs200983489
NM_001282531.3(ADNP):c.2250_2274del (p.Val751fs)
NM_001282534.2(KCNK9):c.907C>T (p.Arg303Cys)
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287
NM_001323289.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_001329998.2(TRANK1):c.2833G>A (p.Val945Ile)
NM_001329998.2(TRANK1):c.6458C>A (p.Thr2153Lys)
NM_001330195.2(NRXN3):c.2033C>T (p.Thr678Ile)
NM_001330195.2(NRXN3):c.3262+210045A>G rs12432103
NM_001330195.2(NRXN3):c.758-160258G>A rs117696080
NM_001330260.2(SCN8A):c.4892T>C (p.Ile1631Thr) rs1085307999
NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser) rs1365914320
NM_001353921.2(ARHGEF9):c.16G>A (p.Gly6Ser)
NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys)
NM_001356.5(DDX3X):c.285-12T>A
NM_001365.4(DLG4):c.20-1G>C
NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro) rs397514627
NM_001369369.1(FOXN1):c.146C>T (p.Ser49Leu) rs797046135
NM_001374736.1(DST):c.89_97dup (p.Ala30_Ile32dup)
NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter)
NM_001375524.1(TRRAP):c.6149C>T (p.Ser2050Leu)
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609
NM_001378125.1(BIRC6):c.3889A>G (p.Ile1297Val)
NM_001378457.1(DMXL2):c.6137C>T (p.Ala2046Val)
NM_001384609.1(SLITRK5):c.175G>T (p.Gly59Cys)
NM_001384609.1(SLITRK5):c.976C>T (p.Pro326Ser)
NM_001481.3(GAS8):c.90+1487_90+1488insGCTGCCCCGCAG rs1555648296
NM_001813.3(CENPE):c.3788C>G (p.Ala1263Gly) rs1560630597
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala) rs202228620
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_002252.5(KCNS3):c.601G>A (p.Ala201Thr)
NM_002291.3(LAMB1):c.144del (p.Lys49fs)
NM_002397.5(MEF2C):c.403-1G>T rs1561824498
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys) rs796052728
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter) rs796052733
NM_002573.4(PAFAH1B3):c.571T>C (p.Tyr191His)
NM_002693.2(POLG):c.678G>C (p.Gln226His) rs147282197
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002830.4(PTPN4):c.2491C>A (p.Leu831Ile)
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter) rs1569513495
NM_003097.5(SNRPN):c.183T>C (p.Arg61=) rs373215950
NM_003097.5(SNRPN):c.3+10A>G rs112560608
NM_003165.4(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_003246.4(THBS1):c.2875C>T (p.Arg959Ter)
NM_003286.4(TOP1):c.1217A>T (p.His406Leu)
NM_003320.5(TUB):c.139G>A (p.Gly47Ser)
NM_003491.4(NAA10):c.472-38C>G
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_003906.5(MCM3AP):c.276del (p.Phe93fs)
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004104.5(FASN):c.2719G>A (p.Val907Ile)
NM_004115.3(FGF14):c.486dup (p.Arg163fs) rs1566823361
NM_004174.4(SLC9A3):c.914C>T (p.Ser305Leu)
NM_004535.3(MYT1):c.2138C>T (p.Ser713Phe)
NM_005045.4(RELN):c.4495G>C (p.Asp1499His) rs200428576
NM_005045.4(RELN):c.6146C>T (p.Ala2049Val)
NM_005445.3(SMC3):c.2413C>T (p.Arg805Cys) rs760111391
NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005650.3(TCF20):c.1810_1811del (p.Val604fs) rs1569151204
NM_005650.3(TCF20):c.2594C>G (p.Ser865Ter) rs1569149539
NM_006186.4(NR4A2):c.357G>T (p.Ser119=) rs797046133
NM_006186.4(NR4A2):c.598_601dup (p.Pro201fs)
NM_006311.4(NCOR1):c.5627G>C (p.Arg1876Thr)
NM_006359.3(SLC9A6):c.1632-19_1632-3del rs1569525894
NM_006372.5(SYNCRIP):c.1573_1574delinsTT (p.Gln525Leu)
NM_006372.5(SYNCRIP):c.629T>C (p.Phe210Ser)
NM_006766.5(KAT6A):c.1582C>T (p.Pro528Ser)
NM_006767.4(LZTR1):c.774del (p.Phe258fs) rs780267761
NM_006852.6(TLK2):c.1648A>T (p.Met550Leu)
NM_006920.6(SCN1A):c.602+1G>A
NM_007050.6(PTPRT):c.548G>A (p.Arg183Gln)
NM_007098.4(CLTCL1):c.3493C>T (p.Arg1165Cys) rs190351859
NM_007118.4(TRIO):c.8383T>C (p.Phe2795Leu)
NM_012309.4(SHANK2):c.*1022T>C rs1591470586
NM_012309.4(SHANK2):c.*1533dup rs575407872
NM_012309.4(SHANK2):c.*1545T>G rs371429377
NM_012309.4(SHANK2):c.*1597T>G rs2154625
NM_012309.4(SHANK2):c.*2583T>C rs55678639
NM_012309.4(SHANK2):c.*3067A>G rs1041628240
NM_012309.4(SHANK2):c.*3245T>C rs78378706
NM_012309.4(SHANK2):c.*3246G>A rs1357516309
NM_012309.4(SHANK2):c.*3475C>G rs568643386
NM_012309.4(SHANK2):c.*3947C>G rs147625536
NM_012309.4(SHANK2):c.*4029A>C rs1170275107
NM_012309.4(SHANK2):c.*4102C>G rs61885874
NM_012309.4(SHANK2):c.*4377A>T rs513996
NM_012309.4(SHANK2):c.*585C>T rs568990616
NM_012309.4(SHANK2):c.*591C>A rs879971097
NM_012309.4(SHANK2):c.-36A>G rs3020047
NM_012309.4(SHANK2):c.1197G>A (p.Ala399=) rs11237599
NM_012309.4(SHANK2):c.1289C>T (p.Ala430Val) rs113262375
NM_012309.4(SHANK2):c.136G>A (p.Gly46Ser) rs201642016
NM_012309.4(SHANK2):c.1510G>A (p.Gly504Ser) rs1590704391
NM_012309.4(SHANK2):c.1636C>G (p.Pro546Ala) rs1590704143
NM_012309.4(SHANK2):c.168G>A (p.Thr56=) rs150944234
NM_012309.4(SHANK2):c.1706G>A (p.Arg569His) rs146580493
NM_012309.4(SHANK2):c.1716C>T (p.Ile572=) rs782240808
NM_012309.4(SHANK2):c.1759C>T (p.Pro587Ser) rs149996975
NM_012309.4(SHANK2):c.191A>G (p.His64Arg) rs200995537
NM_012309.4(SHANK2):c.207+15C>T rs77851214
NM_012309.4(SHANK2):c.2453G>A (p.Arg818His) rs117843717
NM_012309.4(SHANK2):c.256C>A (p.Arg86=) rs377135249
NM_012309.4(SHANK2):c.3172C>T (p.Gln1058Ter) rs1591489959
NM_012309.4(SHANK2):c.332G>A (p.Arg111His) rs368652424
NM_012309.4(SHANK2):c.336C>T (p.Asp112=) rs76014490
NM_012309.4(SHANK2):c.385G>A (p.Val129Met) rs73521173
NM_012309.4(SHANK2):c.396C>A (p.Gly132=) rs148065633
NM_012309.4(SHANK2):c.397G>T (p.Val133Phe) rs1463147374
NM_012309.4(SHANK2):c.4228C>T (p.Pro1410Ser) rs1591487375
NM_012309.4(SHANK2):c.4676G>A (p.Ser1559Asn) rs1591486517
NM_012309.4(SHANK2):c.483+13C>T rs117706585
NM_012309.4(SHANK2):c.483+14G>A rs75938961
NM_012309.4(SHANK2):c.4906C>T (p.Arg1636Ter) rs1565526121
NM_012309.4(SHANK2):c.51C>T (p.Ser17=) rs376267466
NM_012309.4(SHANK2):c.520C>T (p.Arg174Cys) rs7926203
NM_012309.4(SHANK2):c.576C>T (p.His192=) rs561132233
NM_012309.4(SHANK2):c.581C>T (p.Pro194Leu) rs782210973
NM_012309.4(SHANK2):c.613G>T (p.Ala205Ser) rs189053721
NM_012309.4(SHANK2):c.625G>A (p.Asp209Asn) rs183556625
NM_012309.4(SHANK2):c.722C>T (p.Ala241Val) rs749039621
NM_012309.4(SHANK2):c.744+8C>T rs529300603
NM_012309.4(SHANK2):c.745-15A>G rs1555094335
NM_012309.4(SHANK2):c.771A>G (p.Pro257=) rs200821952
NM_012309.4(SHANK2):c.7C>T (p.Arg3Cys) rs373379917
NM_012309.4(SHANK2):c.820G>A (p.Val274Ile) rs1555094289
NM_012309.4(SHANK2):c.900C>T (p.His300=) rs529058522
NM_012309.4(SHANK2):c.912+1134C>T rs1555093950
NM_012309.4(SHANK2):c.912+269C>T rs1555094158
NM_012309.5(SHANK2):c.1793G>A (p.Arg598His)
NM_012309.5(SHANK2):c.912+3227G>A rs1555093479
NM_012309.5(SHANK2):c.912+3911C>G rs1209216340
NM_012309.5(SHANK2):c.912+4231G>A rs1555093271
NM_013275.6(ANKRD11):c.1020G>A (p.Thr340=) rs142539117
NM_013275.6(ANKRD11):c.1027G>A (p.Val343Ile) rs147744268
NM_013275.6(ANKRD11):c.1035C>T (p.Asp345=) rs376386664
NM_013275.6(ANKRD11):c.1245C>T (p.Asp415=) rs79499872
NM_013275.6(ANKRD11):c.1296G>C (p.Thr432=) rs74033734
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn) rs144947610
NM_013275.6(ANKRD11):c.1413G>A (p.Lys471=) rs145731868
NM_013275.6(ANKRD11):c.1725C>T (p.Ser575=) rs151124308
NM_013275.6(ANKRD11):c.1763C>T (p.Ser588Leu) rs202142344
NM_013275.6(ANKRD11):c.1842C>T (p.Ser614=) rs764479350
NM_013275.6(ANKRD11):c.1844C>G (p.Ala615Gly) rs115797011
NM_013275.6(ANKRD11):c.1851C>T (p.Gly617=) rs144309427
NM_013275.6(ANKRD11):c.1852G>A (p.Ala618Thr) rs140370885
NM_013275.6(ANKRD11):c.1857C>T (p.Val619=) rs780814224
NM_013275.6(ANKRD11):c.195C>T (p.Gly65=) rs368375632
NM_013275.6(ANKRD11):c.2039C>G (p.Thr680Ser) rs145694621
NM_013275.6(ANKRD11):c.207G>A (p.Glu69=) rs549000119
NM_013275.6(ANKRD11):c.2184C>G (p.Ile728Met) rs150810048
NM_013275.6(ANKRD11):c.2216C>T (p.Ser739Leu) rs146294483
NM_013275.6(ANKRD11):c.2217G>A (p.Ser739=) rs781423571
NM_013275.6(ANKRD11):c.2373G>A (p.Lys791=) rs138267414
NM_013275.6(ANKRD11):c.2518C>T (p.Arg840Trp) rs761259443
NM_013275.6(ANKRD11):c.2610C>T (p.Ser870=) rs142560514
NM_013275.6(ANKRD11):c.2684G>A (p.Arg895Gln) rs199800166
NM_013275.6(ANKRD11):c.280G>C (p.Ala94Pro) rs190143218
NM_013275.6(ANKRD11):c.282C>G (p.Ala94=) rs139469151
NM_013275.6(ANKRD11):c.2841C>T (p.Ala947=) rs558841836
NM_013275.6(ANKRD11):c.2888_2896del (p.Asp963_Arg965del) rs769651265
NM_013275.6(ANKRD11):c.2889C>T (p.Asp963=) rs139955323
NM_013275.6(ANKRD11):c.2912C>T (p.Ala971Val) rs2279348
NM_013275.6(ANKRD11):c.295G>A (p.Gly99Ser) rs1567593338
NM_013275.6(ANKRD11):c.3005G>A (p.Arg1002Gln) rs757870881
NM_013275.6(ANKRD11):c.3045C>G (p.Pro1015=) rs150652124
NM_013275.6(ANKRD11):c.306G>C (p.Leu102=) rs150497848
NM_013275.6(ANKRD11):c.3138T>A (p.Cys1046Ter) rs1567574466
NM_013275.6(ANKRD11):c.3162A>G (p.Lys1054=) rs61729371
NM_013275.6(ANKRD11):c.3197A>G (p.His1066Arg) rs747326096
NM_013275.6(ANKRD11):c.3437C>T (p.Thr1146Met) rs150325340
NM_013275.6(ANKRD11):c.3483C>T (p.Ser1161=) rs150642594
NM_013275.6(ANKRD11):c.3573C>G (p.Ala1191=) rs62000377
NM_013275.6(ANKRD11):c.3577G>A (p.Ala1193Thr) rs111737495
NM_013275.6(ANKRD11):c.3578C>T (p.Ala1193Val) rs61744864
NM_013275.6(ANKRD11):c.3584G>A (p.Arg1195Lys) rs144199827
NM_013275.6(ANKRD11):c.3660G>A (p.Arg1220=) rs150015583
NM_013275.6(ANKRD11):c.372G>A (p.Thr124=) rs34016116
NM_013275.6(ANKRD11):c.3736C>T (p.His1246Tyr) rs1170311302
NM_013275.6(ANKRD11):c.375C>T (p.Ala125=) rs768468182
NM_013275.6(ANKRD11):c.3822C>T (p.Ala1274=) rs61741725
NM_013275.6(ANKRD11):c.3826G>A (p.Ala1276Thr) rs139239852
NM_013275.6(ANKRD11):c.3889_3891dup (p.Asn1297dup) rs778998883
NM_013275.6(ANKRD11):c.389A>G (p.Asn130Ser) rs745320027
NM_013275.6(ANKRD11):c.3969C>T (p.Val1323=) rs201938879
NM_013275.6(ANKRD11):c.3973T>C (p.Phe1325Leu) rs138543822
NM_013275.6(ANKRD11):c.3977C>T (p.Thr1326Met) rs144673419
NM_013275.6(ANKRD11):c.4149C>T (p.Gly1383=) rs146025366
NM_013275.6(ANKRD11):c.4237G>A (p.Glu1413Lys) rs140373729
NM_013275.6(ANKRD11):c.4271C>A (p.Ser1424Tyr) rs1567569737
NM_013275.6(ANKRD11):c.4297T>C (p.Ser1433Pro) rs1567569593
NM_013275.6(ANKRD11):c.4317G>A (p.Lys1439=) rs61743619
NM_013275.6(ANKRD11):c.4344T>C (p.Tyr1448=) rs61744778
NM_013275.6(ANKRD11):c.4382A>G (p.Lys1461Arg) rs769926682
NM_013275.6(ANKRD11):c.4401G>T (p.Glu1467Asp) rs1567569115
NM_013275.6(ANKRD11):c.4440T>C (p.His1480=) rs139429949
NM_013275.6(ANKRD11):c.4443G>A (p.Ala1481=) rs377279757
NM_013275.6(ANKRD11):c.4456C>T (p.Arg1486Trp) rs189656772
NM_013275.6(ANKRD11):c.449C>T (p.Thr150Met) rs777070083
NM_013275.6(ANKRD11):c.4533C>T (p.Pro1511=) rs769180959
NM_013275.6(ANKRD11):c.4568C>T (p.Pro1523Leu) rs942199653
NM_013275.6(ANKRD11):c.4609G>A (p.Gly1537Ser) rs1347006212
NM_013275.6(ANKRD11):c.4616A>G (p.Glu1539Gly) rs751369171
NM_013275.6(ANKRD11):c.4667C>G (p.Ala1556Gly) rs781186923
NM_013275.6(ANKRD11):c.4831C>T (p.Leu1611=) rs1567567396
NM_013275.6(ANKRD11):c.4872G>A (p.Ala1624=) rs143426579
NM_013275.6(ANKRD11):c.4912C>G (p.Pro1638Ala) rs113527563
NM_013275.6(ANKRD11):c.4928C>A (p.Pro1643Gln) rs147690079
NM_013275.6(ANKRD11):c.4932G>A (p.Gly1644=) rs72821356
NM_013275.6(ANKRD11):c.5061G>A (p.Glu1687=) rs946642356
NM_013275.6(ANKRD11):c.5112C>A (p.Pro1704=) rs141292414
NM_013275.6(ANKRD11):c.5178C>T (p.Ser1726=) rs200783129
NM_013275.6(ANKRD11):c.5241C>T (p.Pro1747=) rs772552969
NM_013275.6(ANKRD11):c.5250C>T (p.Thr1750=) rs202126162
NM_013275.6(ANKRD11):c.5296G>A (p.Val1766Met) rs751326964
NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr) rs75362060
NM_013275.6(ANKRD11):c.543C>T (p.Ala181=) rs367937349
NM_013275.6(ANKRD11):c.5484G>A (p.Ser1828=) rs140164595
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser) rs145906515
NM_013275.6(ANKRD11):c.5578C>T (p.Pro1860Ser) rs144516367
NM_013275.6(ANKRD11):c.5625C>T (p.Val1875=) rs201082380
NM_013275.6(ANKRD11):c.5629C>T (p.Pro1877Ser) rs142527333
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro) rs143743958
NM_013275.6(ANKRD11):c.5665A>G (p.Lys1889Glu) rs202034147
NM_013275.6(ANKRD11):c.5716G>A (p.Ala1906Thr) rs1428749185
NM_013275.6(ANKRD11):c.5726C>T (p.Pro1909Leu) rs780224924
NM_013275.6(ANKRD11):c.5875G>A (p.Ala1959Thr) rs372148958
NM_013275.6(ANKRD11):c.5889C>T (p.Ile1963=) rs748114867
NM_013275.6(ANKRD11):c.5916C>T (p.Ser1972=) rs1025761111
NM_013275.6(ANKRD11):c.5962C>T (p.Pro1988Ser) rs534220503
NM_013275.6(ANKRD11):c.5998C>T (p.Leu2000Phe) rs777086823
NM_013275.6(ANKRD11):c.6020C>T (p.Pro2007Leu) rs200531141
NM_013275.6(ANKRD11):c.6060_6061delinsGC (p.Ser2021Pro) rs1567559902
NM_013275.6(ANKRD11):c.6063_6071del (p.Pro2022_Pro2024del) rs771037147
NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu) rs373218212
NM_013275.6(ANKRD11):c.6067G>C (p.Ala2023Pro) rs60520302
NM_013275.6(ANKRD11):c.6084C>T (p.Pro2028=) rs189297725
NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn) rs201636725
NM_013275.6(ANKRD11):c.6125A>G (p.Asp2042Gly) rs534182728
NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly) rs199691161
NM_013275.6(ANKRD11):c.6153A>G (p.Ser2051=) rs553002021
NM_013275.6(ANKRD11):c.6176C>A (p.Pro2059His) rs117997391
NM_013275.6(ANKRD11):c.6193TTC[1] (p.Phe2066del) rs781573469
NM_013275.6(ANKRD11):c.6232G>C (p.Asp2078His) rs1038750030
NM_013275.6(ANKRD11):c.6254G>T (p.Cys2085Phe) rs755786402
NM_013275.6(ANKRD11):c.6283C>G (p.Leu2095Val) rs772144411
NM_013275.6(ANKRD11):c.6312C>T (p.Asp2104=) rs777466601
NM_013275.6(ANKRD11):c.6323G>A (p.Gly2108Asp) rs201509886
NM_013275.6(ANKRD11):c.6366C>T (p.Asp2122=) rs202049186
NM_013275.6(ANKRD11):c.6415C>T (p.Pro2139Ser) rs1567557350
NM_013275.6(ANKRD11):c.6448G>A (p.Asp2150Asn) rs1567557144
NM_013275.6(ANKRD11):c.6497T>G (p.Met2166Arg) rs74033733
NM_013275.6(ANKRD11):c.6580C>G (p.Gln2194Glu) rs201589586
NM_013275.6(ANKRD11):c.6597C>T (p.Leu2199=) rs762643863
NM_013275.6(ANKRD11):c.6628G>C (p.Glu2210Gln) rs1350625482
NM_013275.6(ANKRD11):c.6698G>A (p.Gly2233Glu) rs570265865
NM_013275.6(ANKRD11):c.6712A>G (p.Ser2238Gly) rs770209899
NM_013275.6(ANKRD11):c.6725C>T (p.Ala2242Val) rs372632879
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys) rs202081612
NM_013275.6(ANKRD11):c.6746G>A (p.Arg2249His) rs201043388
NM_013275.6(ANKRD11):c.6781G>A (p.Glu2261Lys) rs770262960
NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser) rs76793093
NM_013275.6(ANKRD11):c.6826C>T (p.Pro2276Ser) rs201957371
NM_013275.6(ANKRD11):c.6868C>T (p.Pro2290Ser) rs374668457
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser) rs575642464
NM_013275.6(ANKRD11):c.6924C>T (p.Gly2308=) rs146575027
NM_013275.6(ANKRD11):c.6985G>C (p.Val2329Leu) rs760933701
NM_013275.6(ANKRD11):c.7087C>G (p.Pro2363Ala) rs769501453
NM_013275.6(ANKRD11):c.7090G>A (p.Ala2364Thr) rs999130123
NM_013275.6(ANKRD11):c.7128C>G (p.Asp2376Glu) rs4785560
NM_013275.6(ANKRD11):c.7167T>G (p.Phe2389Leu) rs927582667
NM_013275.6(ANKRD11):c.7198_7200dup (p.Leu2400dup) rs1371024836
NM_013275.6(ANKRD11):c.7296C>T (p.Ser2432=) rs146648782
NM_013275.6(ANKRD11):c.7324C>T (p.Leu2442=) rs373934412
NM_013275.6(ANKRD11):c.7519C>A (p.Gln2507Lys) rs572878194
NM_013275.6(ANKRD11):c.7671G>A (p.Met2557Ile) rs1567544079
NM_013275.6(ANKRD11):c.7677G>A (p.Leu2559=) rs143429968
NM_013275.6(ANKRD11):c.7731A>C (p.Ser2577=) rs564437715
NM_013275.6(ANKRD11):c.7799G>A (p.Arg2600His) rs1354874973
NM_013275.6(ANKRD11):c.7839C>G (p.Ala2613=) rs143287644
NM_013275.6(ANKRD11):c.7847T>C (p.Leu2616Pro) rs1567533174
NM_013275.6(ANKRD11):c.843C>T (p.Asn281=) rs912859980
NM_013275.6(ANKRD11):c.868A>G (p.Thr290Ala) rs776494318
NM_013275.6(ANKRD11):c.888G>A (p.Ser296=) rs763790556
NM_013275.6(ANKRD11):c.890C>T (p.Thr297Met) rs140998225
NM_014141.6(CNTNAP2):c.1778-1G>C rs1396313317
NM_014159.7(SETD2):c.4376G>A (p.Arg1459Gln) rs777992018
NM_014520.4(MYBBP1A):c.139C>T (p.Gln47Ter) rs758083465
NM_014718.4(CLSTN3):c.599T>C (p.Ile200Thr)
NM_014727.3(KMT2B):c.121G>T (p.Glu41Ter)
NM_014932.5(NLGN1):c.2472G>A (p.Ter824=)
NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys)
NM_014991.6(WDFY3):c.2932A>T (p.Arg978Ter)
NM_015080.4(NRXN2):c.3254G>A (p.Arg1085His)
NM_015100.4(POGZ):c.1072A>G (p.Met358Val) rs574158925
NM_015100.4(POGZ):c.130G>A (p.Val44Met) rs752798900
NM_015100.4(POGZ):c.1318C>G (p.Pro440Ala) rs1557902023
NM_015100.4(POGZ):c.1375G>A (p.Asp459Asn) rs888864913
NM_015100.4(POGZ):c.1426C>T (p.Arg476Trp) rs267598016
NM_015100.4(POGZ):c.1427G>A (p.Arg476Gln) rs763820362
NM_015100.4(POGZ):c.1445C>G (p.Ala482Gly) rs1557901347
NM_015100.4(POGZ):c.1549G>A (p.Val517Ile) rs754532606
NM_015100.4(POGZ):c.1940A>C (p.Tyr647Ser) rs749548928
NM_015100.4(POGZ):c.1948A>C (p.Asn650His) rs1557874046
NM_015100.4(POGZ):c.1978A>G (p.Lys660Glu) rs1418634444
NM_015100.4(POGZ):c.211G>A (p.Val71Ile) rs866632178
NM_015100.4(POGZ):c.2396G>A (p.Ser799Asn) rs1557870645
NM_015100.4(POGZ):c.2542C>T (p.Arg848Trp) rs548226228
NM_015100.4(POGZ):c.2557A>G (p.Ile853Val) rs749270162
NM_015100.4(POGZ):c.2591G>A (p.Arg864Gln) rs753214391
NM_015100.4(POGZ):c.2608G>A (p.Val870Met) rs772572695
NM_015100.4(POGZ):c.2705C>T (p.Thr902Ile) rs1557867853
NM_015100.4(POGZ):c.272C>A (p.Ala91Asp) rs1557935477
NM_015100.4(POGZ):c.2792C>T (p.Pro931Leu) rs373783340
NM_015100.4(POGZ):c.303G>T (p.Gln101His) rs1557916296
NM_015100.4(POGZ):c.3048G>T (p.Glu1016Asp)
NM_015100.4(POGZ):c.3116G>A (p.Arg1039His) rs760059077
NM_015100.4(POGZ):c.319C>G (p.Leu107Val) rs998675361
NM_015100.4(POGZ):c.3343C>G (p.Gln1115Glu) rs778792467
NM_015100.4(POGZ):c.3373A>G (p.Ile1125Val) rs760211123
NM_015100.4(POGZ):c.3388T>G (p.Leu1130Val) rs1276388879
NM_015100.4(POGZ):c.3559C>T (p.Pro1187Ser) rs202098093
NM_015100.4(POGZ):c.3607G>A (p.Glu1203Lys) rs756483529
NM_015100.4(POGZ):c.3659A>G (p.Gln1220Arg) rs769581210
NM_015100.4(POGZ):c.3772A>T (p.Ser1258Cys) rs1557863546
NM_015100.4(POGZ):c.3802A>G (p.Ile1268Val) rs1557863440
NM_015100.4(POGZ):c.3806A>G (p.Lys1269Arg) rs1557863430
NM_015100.4(POGZ):c.3880T>C (p.Ser1294Pro) rs1484207450
NM_015100.4(POGZ):c.4042G>C (p.Glu1348Gln) rs756691187
NM_015100.4(POGZ):c.4089T>G (p.His1363Gln) rs142860188
NM_015100.4(POGZ):c.4132A>C (p.Thr1378Pro) rs370498156
NM_015100.4(POGZ):c.4207G>A (p.Ala1403Thr) rs1452048149
NM_015100.4(POGZ):c.499A>G (p.Met167Val) rs375045125
NM_015100.4(POGZ):c.625A>T (p.Met209Leu) rs1557911386
NM_015100.4(POGZ):c.749A>G (p.Lys250Arg) rs1557910728
NM_015100.4(POGZ):c.757C>T (p.Pro253Ser) rs926772662
NM_015100.4(POGZ):c.794C>G (p.Thr265Ser) rs1476293577
NM_015100.4(POGZ):c.830A>G (p.Gln277Arg) rs561369202
NM_015100.4(POGZ):c.860C>T (p.Ala287Val) rs1372713010
NM_015100.4(POGZ):c.902T>C (p.Phe301Ser) rs1557909821
NM_015100.4(POGZ):c.942C>G (p.Ser314Arg) rs574335012
NM_015100.4(POGZ):c.970C>G (p.Leu324Val) rs1557909572
NM_015155.3(LARP4B):c.801_802del (p.Cys267_Glu268delinsTer)
NM_015324.4(RRP8):c.803G>A (p.Arg268His)
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter)
NM_015542.4(UPF2):c.91G>T (p.Val31Leu)
NM_015570.4(AUTS2):c.3377ACC[9] (p.His1133dup) rs538005366
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly) rs1562851259
NM_017514.5(PLXNA3):c.214G>A (p.Glu72Lys) rs149367480
NM_017519.2(ARID1B):c.2653C>T (p.Arg885Ter) rs794727977
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_017739.4(POMGNT1):c.*11del
NM_017934.7(PHIP):c.5263G>C (p.Glu1755Gln)
NM_018094.5(GSPT2):c.1021G>A (p.Val341Ile) rs1057519440
NM_018133.4(MSL2):c.694_697del (p.Ser232fs) rs1576352885
NM_018328.4(MBD5):c.973C>T (p.Arg325Ter) rs1553518509
NM_018897.3(DNAH7):c.3025C>T (p.Arg1009Ter)
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) rs765379963
NM_019040.5(ELP4):c.284del (p.Ser95fs)
NM_019066.5(MAGEL2):c.717G>A (p.Met239Ile)
NM_019108.4(SMG9):c.947A>G (p.His316Arg)
NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter) rs1555740650
NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs) rs1555741826
NM_020719.3(PRR12):c.903_909dup (p.Pro304fs) rs1555740394
NM_020759.3(STARD9):c.4802G>A (p.Arg1601Gln)
NM_020987.5(ANK3):c.4705T>G (p.Ser1569Ala) rs375050420
NM_021008.3(DEAF1):c.664+2T>G rs1564950387
NM_021135.6(RPS6KA2):c.1696G>A (p.Gly566Arg)
NM_021946.4(BCORL1):c.532A>G (p.Thr178Ala) rs778220343
NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_022806.4(SNRPN):c.-579+6065del rs886051014
NM_022807.4(SNRPN):c.-110T>G rs190439178
NM_022807.4(SNRPN):c.-143-6C>T rs886051017
NM_022807.4(SNRPN):c.-20G>T rs763736287
NM_022807.4(SNRPN):c.-262A>T rs765651266
NM_022807.4(SNRPN):c.-274G>A rs142583293
NM_022807.4(SNRPN):c.-280C>T rs372295822
NM_022807.4(SNRPN):c.-295+8C>G rs371808119
NM_022807.4(SNRPN):c.-378C>T rs426541
NM_022807.4(SNRPN):c.-380C>T rs886051016
NM_022807.4(SNRPN):c.-386C>T rs776280755
NM_022807.4(SNRPN):c.-39G>A rs75184959
NM_022807.4(SNRPN):c.-504-12T>C rs886051015
NM_022807.4(SNRPN):c.-569C>T rs80135925
NM_022807.4(SNRPN):c.-579+5G>A rs56684653
NM_022807.4(SNRPN):c.-584A>G rs58890023
NM_022807.4(SNRPN):c.-636C>A rs886051013
NM_022807.4(SNRPN):c.-672T>C rs7170796
NM_022807.4(SNRPN):c.-819C>A rs886051012
NM_022807.4(SNRPN):c.-823T>C rs886051011
NM_022807.4(SNRPN):c.-841T>A rs886051010
NM_022807.4(SNRPN):c.-86G>A rs886051018
NM_022807.4(SNRPN):c.-89T>C rs705
NM_022807.4(SNRPN):c.421-5C>T rs886051019
NM_022807.4(SNRPN):c.524C>T (p.Pro175Leu) rs886051020
NM_024490.3(ATP10A):c.2397C>A (p.Tyr799Ter)
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401
NM_025137.4(SPG11):c.4955C>G (p.Thr1652Arg)
NM_025185.4(TANC2):c.1219+1G>A
NM_025185.4(TANC2):c.2264G>A (p.Arg755His)
NM_025185.4(TANC2):c.2882G>A (p.Arg961Gln)
NM_025185.4(TANC2):c.3196C>T (p.Arg1066Ter)
NM_025185.4(TANC2):c.5066A>G (p.His1689Arg)
NM_025185.4(TANC2):c.547+1G>A
NM_031303.3(KATNAL2):c.523C>T (p.His175Tyr)
NM_032108.4(SEMA6B):c.1153T>C (p.Tyr385His)
NM_032322.4(RNF135):c.1015del (p.Val339fs) rs724159978
NM_032531.4(KIRREL3):c.1985G>A (p.Arg662His)
NM_032682.5(FOXP1):c.1348+1G>C rs1559619762
NM_032776.3(JMJD1C):c.667dup (p.Met223fs)
NM_033225.6(CSMD1):c.2381A>C (p.His794Pro)
NM_033517.1(SHANK3):c.206A>G (p.Asp69Gly) rs1005062028
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs) rs1555910143
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_033517.1(SHANK3):c.3813C>T (p.Gly1271=) rs367676023
NM_033517.1(SHANK3):c.4152C>T (p.Thr1384=) rs1264636649
NM_033517.1(SHANK3):c.4176C>G (p.Leu1392=) rs906873431
NM_033517.1(SHANK3):c.4216C>G (p.Leu1406Val) rs201973139
NM_033656.4(BRWD1):c.2352G>A (p.Ser784=) rs918131106
NM_052867.4(NALCN):c.682C>T (p.His228Tyr)
NM_057175.5(NAA15):c.55-2A>C
NM_130839.5(UBE3A):c.1423A>G (p.Met475Val) rs864309507
NM_133266.5(SHANK2):c.2540_2541del (p.Leu846_Ser847insTer) rs1565527302
NM_138459.5(NUS1):c.697A>G (p.Asn233Asp)
NM_138576.4(BCL11B):c.1858C>T (p.Arg620Cys)
NM_138615.3(DHX30):c.1685A>G (p.His562Arg) rs1060499733
NM_152722.5(HEPACAM):c.803+1G>A rs375712202
NM_152744.4(SDK1):c.6016G>A (p.Glu2006Lys)
NM_170606.3(KMT2C):c.12704T>G (p.Ile4235Ser)
NM_173495.3(PTCHD1):c.898G>C (p.Gly300Arg)
NM_173569.4(UBN2):c.2024+1G>A rs1585016242
NM_182641.4(BPTF):c.5337_5338del (p.Val1780fs) rs1568070621
NM_201596.3(CACNB2):c.208C>T (p.Arg70Cys) rs760538597
Single allele

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