ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by OMIM

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1139
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys) rs199823175 0.00210
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_003244.4(TGIF1):c.320A>T (p.Gln107Leu) rs28939693 0.00048
NM_005199.5(CHRNG):c.459dup (p.Val154fs) rs774279192 0.00048
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952 0.00041
NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly) rs199476092 0.00036
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val) rs587777778 0.00019
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_001286577.2(C2CD3):c.3911-2A>T rs149366137 0.00016
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_001291303.3(FAT4):c.12851C>T (p.Ser4284Phe) rs199682210 0.00013
NM_007059.4(KPTN):c.776C>A (p.Ser259Ter) rs374298314 0.00011
NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter) rs368313959 0.00011
NM_001102401.4(TTI2):c.1100C>T (p.Pro367Leu) rs398122366 0.00010
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs) rs766372684 0.00010
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00008
NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp) rs373062274 0.00007
NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser) rs121908250 0.00007
NM_133459.4(CCBE1):c.683_684insT (p.Leu229fs) rs563023244 0.00007
NM_000193.4(SHH):c.676G>A (p.Ala226Thr) rs104894043 0.00006
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582 0.00006
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_007059.4(KPTN):c.394+1G>A rs373139784 0.00006
NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter) rs730882150 0.00006
NM_015937.6(PIGT):c.494-2A>G rs200790673 0.00006
NM_194318.4(B3GLCT):c.347+5G>A rs80338850 0.00006
NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs) rs752248403 0.00006
NM_198525.3(KIF7):c.587dup (p.Glu197fs) rs797044463 0.00006
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys) rs779241085 0.00005
NM_001163435.3(TBCK):c.2060-2A>G rs62321379 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys) rs121909066 0.00005
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu) rs755177846 0.00005
NM_015937.6(PIGT):c.918dup (p.Val307fs) rs751861982 0.00005
NM_016343.4(CENPF):c.2734G>T (p.Glu912Ter) rs200976140 0.00005
NM_001064.4(TKT):c.952C>T (p.Arg318Cys) rs782092363 0.00004
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG rs781905246 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_003244.4(TGIF1):c.451A>G (p.Thr151Ala) rs121909068 0.00004
NM_004278.4(PIGL):c.427-1G>A rs770084126 0.00004
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) rs148932047 0.00004
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp) rs527236031 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_176787.5(PIGN):c.1674+1G>C rs376355678 0.00004
NM_176787.5(PIGN):c.2340T>A (p.Tyr780Ter) rs749334082 0.00004
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter) rs376699648 0.00003
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter) rs750345068 0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) rs121909767 0.00003
NM_001371986.1(UNC80):c.5296C>T (p.Pro1766Ser) rs869025316 0.00003
NM_001519.4(BRF1):c.667C>T (p.Arg223Trp) rs370270828 0.00003
NM_001519.4(BRF1):c.776C>T (p.Thr259Met) rs373957300 0.00003
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter) rs373145711 0.00003
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val) rs878853271 0.00003
NM_019023.5(PRMT7):c.95G>C (p.Arg32Thr) rs149170494 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_000751.3(CHRND):c.1390C>T (p.Arg464Ter) rs121909507 0.00002
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg) rs778210210 0.00002
NM_001163435.3(TBCK):c.1897+1G>A rs374319146 0.00002
NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp) rs765848129 0.00002
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys) rs387907277 0.00002
NM_003184.4(TAF2):c.2531C>T (p.Pro844Leu) rs750451843 0.00002
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser) rs782220208 0.00002
NM_004044.7(ATIC):c.1277A>G (p.Lys426Arg) rs121434478 0.00002
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter) rs730882240 0.00002
NM_004204.5(PIGQ):c.968_969del (p.Leu323fs) rs747661902 0.00002
NM_006438.5(COLEC10):c.528C>G (p.Cys176Trp) rs773764995 0.00002
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) rs778985686 0.00002
NM_012233.3(RAB3GAP1):c.899+1G>A rs587777152 0.00002
NM_014305.4(TGDS):c.269A>G (p.Glu90Gly) rs724160004 0.00002
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys) rs778531326 0.00002
NM_133459.4(CCBE1):c.520T>C (p.Cys174Arg) rs121908254 0.00002
NM_176787.5(PIGN):c.963G>A (p.Gln321=) rs587777187 0.00002
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr) rs137853341 0.00001
NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr) rs199476091 0.00001
NM_000751.3(CHRND):c.234G>A (p.Trp78Ter) rs121909505 0.00001
NM_000751.3(CHRND):c.283T>C (p.Phe95Leu) rs121909506 0.00001
NM_000900.5(MGP):c.62-2A>G rs112518413 0.00001
NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu) rs869320682 0.00001
NM_001270.4(CHD1):c.1379G>A (p.Arg460Lys) rs1554078856 0.00001
NM_001286577.2(C2CD3):c.184C>T (p.Arg62Ter) rs587777653 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001360.3(DHCR7):c.412+3A>T rs786200926 0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) rs121909765 0.00001
NM_001365999.1(SZT2):c.2929+1G>A rs1295389410 0.00001
NM_001367561.1(DOCK7):c.6265G>T (p.Glu2089Ter) rs587777485 0.00001
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479 0.00001
NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter) rs864321622 0.00001
NM_001378964.1(CDON):c.2818A>C (p.Ser940Arg) rs369673018 0.00001
NM_001519.4(BRF1):c.677C>T (p.Ser226Leu) rs606231416 0.00001
NM_001519.4(BRF1):c.875C>A (p.Pro292His) rs606231450 0.00001
NM_002048.3(GAS1):c.599C>G (p.Thr200Arg) rs387907165 0.00001
NM_003073.5(SMARCB1):c.1130G>A (p.Arg377His) rs387906812 0.00001
NM_003244.4(TGIF1):c.485C>T (p.Ser162Phe) rs121909069 0.00001
NM_003620.4(PPM1D):c.1281G>A (p.Trp427Ter) rs1064797099 0.00001
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr) rs387906729 0.00001
NM_004187.5(KDM5C):c.2296C>T (p.Arg766Trp) rs199422238 0.00001
NM_004204.5(PIGQ):c.690-2A>G rs587777543 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_005816.5(CD96):c.791C>T (p.Thr264Met) rs119477056 0.00001
NM_005993.5(TBCD):c.1130G>A (p.Arg377Gln) rs764085684 0.00001
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys) rs181969865 0.00001
NM_005993.5(TBCD):c.2761G>A (p.Ala921Thr) rs886041085 0.00001
NM_005993.5(TBCD):c.686T>G (p.Leu229Arg) rs778417127 0.00001
NM_006331.8(EMG1):c.257A>G (p.Asp86Gly) rs74435397 0.00001
NM_006438.5(COLEC10):c.25C>T (p.Arg9Ter) rs149010496 0.00001
NM_007055.4(POLR3A):c.1048+5G>T rs890755853 0.00001
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232 0.00001
NM_007055.4(POLR3A):c.3337-5T>A rs368905417 0.00001
NM_007059.4(KPTN):c.665dup (p.Ser223fs) rs1295123083 0.00001
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167 0.00001
NM_014141.6(CNTNAP2):c.3046C>T (p.Arg1016Ter) rs371642222 0.00001
NM_014243.3(ADAMTS3):c.280C>T (p.Arg94Ter) rs747975445 0.00001
NM_014243.3(ADAMTS3):c.503T>C (p.Leu168Pro) rs1177851177 0.00001
NM_014305.4(TGDS):c.700T>C (p.Tyr234His) rs544436734 0.00001
NM_014996.4(PLCH1):c.2101C>T (p.Arg701Ter) rs757653002 0.00001
NM_015338.6(ASXL1):c.2893C>T (p.Arg965Ter) rs397515401 0.00001
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val) rs1277383877 0.00001
NM_015937.6(PIGT):c.250G>T (p.Glu84Ter) rs756632799 0.00001
NM_016030.6(TRAPPC12):c.1880C>T (p.Ala627Val) rs768950892 0.00001
NM_016111.4(TELO2):c.1826G>A (p.Arg609His) rs754162070 0.00001
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu) rs369656775 0.00001
NM_016343.4(CENPF):c.574-2A>C rs376767238 0.00001
NM_016343.4(CENPF):c.9280C>T (p.Arg3094Ter) rs869312748 0.00001
NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter) rs200788163 0.00001
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met) rs397515417 0.00001
NM_019023.5(PRMT7):c.1159A>G (p.Arg387Gly) rs762515973 0.00001
NM_019023.5(PRMT7):c.1480T>C (p.Trp494Arg) rs751670999 0.00001
NM_020771.4(HACE1):c.655C>T (p.Arg219Ter) rs869025280 0.00001
NM_020771.4(HACE1):c.805C>T (p.Arg269Ter) rs750371878 0.00001
NM_021252.5(RAB18):c.284C>G (p.Thr95Arg) rs587777151 0.00001
NM_022916.6(VPS33A):c.1492C>T (p.Arg498Trp) rs767748011 0.00001
NM_024027.5(COLEC11):c.610G>A (p.Gly204Ser) rs387907076 0.00001
NM_024339.5(THOC6):c.136G>A (p.Gly46Arg) rs587777030 0.00001
NM_024339.5(THOC6):c.259C>T (p.Arg87Ter) rs763344375 0.00001
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter) rs774005569 0.00001
NM_139125.4(MASP1):c.870G>A (p.Trp290Ter) rs763360042 0.00001
NM_152515.5(CKAP2L):c.2T>C (p.Met1Thr) rs548949031 0.00001
NM_152515.5(CKAP2L):c.78_79insTT (p.Gly27fs) rs727502803 0.00001
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152 0.00001
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter) rs120074150 0.00001
NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter) rs786205229 0.00001
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) rs774694340 0.00001
NM_174916.3(UBR1):c.1537C>T (p.Gln513Ter) rs119477055 0.00001
NM_176787.5(PIGN):c.1434+5G>A rs369486176 0.00001
NM_176787.5(PIGN):c.2126G>A (p.Arg709Gln) rs397514475 0.00001
NM_176787.5(PIGN):c.694A>T (p.Lys232Ter) rs886039218 0.00001
NM_194318.4(B3GLCT):c.459+1G>A rs767361165 0.00001
NM_198525.3(KIF7):c.460C>T (p.Arg154Ter) rs387907044 0.00001
46,XY t(3;18)(q13.13;q12.1)
COLEC11, EX1-3DEL
GATAD2B, ASN195LYSfsTER30
GLI2, 1-BP DEL, NT2274
GRCh38/hg38 Xq28(chrX:153905292-154361918)
NC_000002.10:g.(50704258_51001003_51113677_?)del
NC_000002.11:g.(?_50214717_50293739_?)del
NC_000002.11:g.(?_51008023)_(51294599_?)del
NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del
NC_000002.12:g.(?_135052292)_(135176396_?)del
NC_000003.11:g.136254742_136427833del
NC_000006.12:g.104771387TACCTAAAAA[3]
NC_000007.13:g.(69985843_69991859)_(70221259_70228020)del
NC_000007.13:g.144520633_145949971del
NC_000007.14:g.(69899499_70118132)_(70134571_70435751)del
NC_000007.14:g.(70435782_70698569)_(70766334_70768023)del
NC_000010.11:g.(68989259_69000424)_(69005125_69005731)del
NC_000012.11:g.(116484299_116497981)_(116681549_116695774)dup
NC_000015.10:g.75410285_75410288del rs879255619
NC_000016.9:g.68345747_68361056del
NC_000021.7:g.37796500_37849000del
NC_000022.11:g.(?_41092585)_(41093099_41117186)del
NG_007092.2:g.1180537_1293253del
NG_007098.2:g.(809539_810185)_(813218_815566)del
NG_007098.2:g.(94856_102832)_(161899_184610)del
NG_008197.2:g.(218402_271087)_(271804_315503)dup
NG_032035.1:g.(5265_10701)_(10758_27654)del
NG_032162.2:g.118997_171770del
NIPBL, IVS44DS, A-G, +4
NM_000079.4(CHRNA1):c.117_133dup (p.His45fs)
NM_000079.4(CHRNA1):c.686G>T (p.Arg229Leu) rs137852809
NM_000193.4(SHH):c.1132_1140del (p.Ala378_Phe380del) rs397515376
NM_000193.4(SHH):c.1270C>G (p.Pro424Ala) rs104894048
NM_000193.4(SHH):c.263A>T (p.Asp88Val) rs104894050
NM_000193.4(SHH):c.298C>T (p.Gln100Ter) rs104894044
NM_000193.4(SHH):c.313A>T (p.Lys105Ter) rs104894045
NM_000193.4(SHH):c.331A>T (p.Ile111Phe) rs104894049
NM_000193.4(SHH):c.345C>A (p.Asn115Lys) rs267607047
NM_000193.4(SHH):c.349T>C (p.Trp117Arg) rs104894040
NM_000193.4(SHH):c.349T>G (p.Trp117Gly) rs104894040
NM_000193.4(SHH):c.383G>A (p.Trp128Ter) rs104894053
NM_000193.4(SHH):c.671T>A (p.Val224Glu) rs104894042
NM_000193.4(SHH):c.766G>T (p.Glu256Ter) rs104894051
NM_000193.4(SHH):c.788_808del (p.Arg263_Ala269del) rs397515375
NM_000193.4(SHH):c.850G>T (p.Glu284Ter) rs104894046
NM_000193.4(SHH):c.91G>A (p.Gly31Arg) rs28936675
NM_000193.4(SHH):c.995T>C (p.Val332Ala) rs104894052
NM_000264.5(PTCH1):c.2723T>G (p.Val908Gly) rs199476093
NM_000381.4(MID1):c.1311GAT[1] (p.Met438del) rs1569270035
NM_000381.4(MID1):c.1546_1547del (p.Thr518_Pro519insTer) rs1569268029
NM_000381.4(MID1):c.1558dup (p.Glu520fs) rs1569268013
NM_000381.4(MID1):c.1601_1624dup (p.His541_Tyr542insLeuPheIleAspSerGlyArgHis)
NM_000381.4(MID1):c.1877T>C (p.Leu626Pro) rs28934611
NM_000381.4(MID1):c.343G>T (p.Glu115Ter) rs104894865
NM_000381.4(MID1):c.712G>T (p.Glu238Ter) rs387906719
NM_000381.4(MID1):c.884T>C (p.Leu295Pro) rs104894866
NM_000900.5(MGP):c.43del (p.Ala14_Val15insTer) rs730880321
NM_000900.5(MGP):c.87T>A (p.Tyr29Ter) rs730880322
NM_000900.5(MGP):c.94+1G>A rs111320759
NM_001009999.3(KDM1A):c.1207G>A (p.Glu403Lys) rs864309715
NM_001009999.3(KDM1A):c.1739A>G (p.Asp580Gly) rs864309716
NM_001009999.3(KDM1A):c.2353T>C (p.Tyr785His) rs864309714
NM_001031689.3(PLAA):c.1049A>T (p.Glu350Val) rs1824723269
NM_001031689.3(PLAA):c.2254C>T (p.Leu752Phe) rs1114167457
NM_001031689.3(PLAA):c.68G>T (p.Gly23Val) rs747956857
NM_001031689.3(PLAA):c.68dup (p.Leu24fs) rs1554662408
NM_001031689.3(PLAA):c.829T>C (p.Cys277Arg) rs1824935807
NM_001042750.2(STAG2):c.205C>T (p.Arg69Ter) rs1569507848
NM_001042750.2(STAG2):c.3034C>T (p.Arg1012Ter) rs1317614761
NM_001042750.2(STAG2):c.436C>T (p.Arg146Ter) rs2057753419
NM_001064.4(TKT):c.633G>A (p.Trp211Ter) rs868953318
NM_001079872.2(CUL4B):c.1108C>T (p.Arg370Ter) rs121434616
NM_001079872.2(CUL4B):c.1660C>T (p.Arg554Cys) rs121434615
NM_001079872.2(CUL4B):c.1852+1G>T rs797044862
NM_001079872.2(CUL4B):c.847-2A>G rs786200913
NM_001080517.3(SETD5):c.1195A>T (p.Lys399Ter) rs587777325
NM_001080517.3(SETD5):c.2177_2178del (p.Thr726fs) rs587777326
NM_001080517.3(SETD5):c.2302C>T (p.Arg768Ter) rs864321657
NM_001080517.3(SETD5):c.3001C>T (p.Arg1001Ter)
NM_001080517.3(SETD5):c.3771dup (p.Ser1258fs) rs587777328
NM_001080517.3(SETD5):c.3856del (p.Ser1286fs) rs587777329
NM_001080517.3(SETD5):c.547_567+60del rs1553618323
NM_001081550.2(THOC2):c.1313T>C (p.Leu438Pro) rs797045018
NM_001081550.2(THOC2):c.1550A>G (p.Tyr517Cys) rs1556036052
NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp) rs1603255389
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.2399T>C (p.Ile800Thr) rs797045021
NM_001081550.2(THOC2):c.3034T>C (p.Ser1012Pro) rs797045020
NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr) rs1556014935
NM_001081550.2(THOC2):c.4450-2A>G rs1556005930
NM_001081550.2(THOC2):c.937C>T (p.Leu313Phe) rs797045019
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.1733G>C (p.Arg578Pro) rs121909123
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001083962.2(TCF4):c.656-1G>C rs587784466
NM_001083962.2(TCF4):c.908del (p.Thr303fs) rs1600861681
NM_001101.5(ACTB):c.1097dup (p.Ser368fs) rs1554329078
NM_001101.5(ACTB):c.1117A>T (p.Lys373Ter) rs1554329068
NM_001101.5(ACTB):c.193C>G (p.Leu65Val) rs281875332
NM_001101.5(ACTB):c.329del (p.Leu110fs) rs1554329523
NM_001101.5(ACTB):c.349G>A (p.Glu117Lys) rs397515470
NM_001101.5(ACTB):c.34A>G (p.Asn12Asp) rs281875331
NM_001101.5(ACTB):c.359C>T (p.Thr120Ile) rs587779774
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) rs281875333
NM_001101.5(ACTB):c.587G>A (p.Arg196His) rs281875334
NM_001102401.4(TTI2):c.1075C>T (p.Arg359Cys)
NM_001102401.4(TTI2):c.1307T>A (p.Ile436Asn) rs398122367
NM_001102401.4(TTI2):c.539T>C (p.Leu180Pro)
NM_001102401.4(TTI2):c.575T>C (p.Leu192Pro)
NM_001102401.4(TTI2):c.950A>T (p.Asp317Val)
NM_001130145.3(YAP1):c.1066G>T (p.Glu356Ter) rs587777250
NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn) rs864309659
NM_001145358.2(SIN3A):c.1759del (p.Ser587fs) rs879255620
NM_001145358.2(SIN3A):c.2955_2956del (p.Glu985fs) rs886037847
NM_001145358.2(SIN3A):c.3310C>T (p.Arg1104Ter) rs879255621
NM_001145358.2(SIN3A):c.803dup (p.Leu269fs) rs879255618
NM_001145358.2(SIN3A):c.848dup (p.His283fs) rs1567368243
NM_001163435.3(TBCK):c.1370del (p.Asn457fs) rs746860249
NM_001163435.3(TBCK):c.1532G>A (p.Arg511His) rs869320711
NM_001163435.3(TBCK):c.803_806del (p.Met268fs) rs771481304
NM_001163435.3(TBCK):c.831_832insTA (p.Pro278fs) rs869320769
NM_001166114.2(PNPLA6):c.2149G>C (p.Gly717Arg)
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001197104.2(KMT2A):c.1038del (p.Val347fs) rs1555035779
NM_001197104.2(KMT2A):c.3566G>A (p.Cys1189Tyr) rs1555038125
NM_001197104.2(KMT2A):c.4599dup (p.Lys1534Ter) rs398122881
NM_001197104.2(KMT2A):c.6913del (p.Ser2305fs) rs398122880
NM_001197104.2(KMT2A):c.7144C>T (p.Arg2382Ter) rs387907275
NM_001197104.2(KMT2A):c.7438C>T (p.Arg2480Ter) rs1555046568
NM_001197104.2(KMT2A):c.8267del (p.Asn2755_Leu2756insTer) rs398122879
NM_001197104.2(KMT2A):c.8806_8809del (p.Ser2935_Val2936insTer) rs398122878
NM_001270.4(CHD1):c.1853G>A (p.Arg618Gln) rs1554078349
NM_001270.4(CHD1):c.421A>G (p.Arg141Gly) rs1064795875
NM_001270.4(CHD1):c.5123G>A (p.Arg1708Gln) rs1293161341
NM_001272071.2(AP1S2):c.106C>T (p.Gln36Ter) rs104894739
NM_001272071.2(AP1S2):c.154C>T (p.Arg52Ter) rs104894735
NM_001272071.2(AP1S2):c.180-5_180-2del rs587776738
NM_001272071.2(AP1S2):c.226G>T (p.Glu76Ter) rs137852213
NM_001272071.2(AP1S2):c.288+5G>A rs587776739
NM_001272071.2(AP1S2):c.426+1G>T rs587777542
NM_001282531.3(ADNP):c.1211C>A (p.Ser404Ter) rs587777524
NM_001282531.3(ADNP):c.1222_1223del (p.Lys408fs) rs1555810376
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) rs587777522
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.2808del (p.Lys935_Tyr936insTer) rs587777525
NM_001286577.2(C2CD3):c.1365+1G>A rs1174615027
NM_001286577.2(C2CD3):c.3085T>G (p.Cys1029Gly) rs587777654
NM_001286577.2(C2CD3):c.5090+5G>C rs1565237232
NM_001291303.3(FAT4):c.11461C>T (p.Arg3821Ter) rs398122957
NM_001291303.3(FAT4):c.1195del (p.Leu399fs) rs587777725
NM_001291303.3(FAT4):c.12482G>T (p.Cys4161Phe) rs398122953
NM_001291303.3(FAT4):c.13199G>A (p.Cys4400Tyr) rs398122954
NM_001291303.3(FAT4):c.14518_14519del (p.Ser4840fs) rs398122956
NM_001291303.3(FAT4):c.7035TGGAAC[3] (p.2346GT[3]) rs587777724
NM_001291303.3(FAT4):c.7123G>A (p.Glu2375Lys) rs398122955
NM_001291303.3(FAT4):c.7204A>C (p.Arg2402=) rs587777726
NM_001291303.3(FAT4):c.9487G>T (p.Glu3163Ter) rs370088878
NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter) rs397514628
NM_001291415.2(KDM6A):c.2065_2068del (p.Ser689fs) rs398122969
NM_001291415.2(KDM6A):c.2671_2674del (p.Asn891fs) rs786205676
NM_001291415.2(KDM6A):c.3507TCT[1] (p.Leu1171del) rs398122829
NM_001291415.2(KDM6A):c.3873G>A (p.Trp1291Ter) rs398122929
NM_001304361.2(CKAP2L):c.-280-59_-11del rs1553442237
NM_001321380.2(PIK3C2A):c.-75-13528T>G rs1565287817
NM_001330078.2(NRXN1):c.2936C>G (p.Ser979Ter) rs267606922
NM_001330288.2(SMARCC2):c.1311-3C>G rs1206884190
NM_001330288.2(SMARCC2):c.1922T>C (p.Leu641Pro) rs1565903367
NM_001330288.2(SMARCC2):c.1926+2T>C rs1565903353
NM_001330288.2(SMARCC2):c.2779A>G (p.Met927Val) rs1565896447
NM_001330288.2(SMARCC2):c.723G>A (p.Trp241Ter) rs1565917836
NM_001347721.2(DYRK1A):c.1071+1G>A rs587776930
NM_001347721.2(DYRK1A):c.143_144del (p.Ile48fs) rs587776929
NM_001347721.2(DYRK1A):c.1464del (p.Ala489fs) rs1057519628
NM_001347721.2(DYRK1A):c.263_264del (p.Ser88fs) rs1064793546
NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln) rs121909768
NM_001360.3(DHCR7):c.356A>T (p.His119Leu) rs28938174
NM_001360.3(DHCR7):c.453G>A (p.Trp151Ter) rs104894213
NM_001360.3(DHCR7):c.680dup (p.Arg228fs)
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.3(DHCR7):c.744G>T (p.Trp248Cys) rs104894212
NM_001360.3(DHCR7):c.761_762insT (p.Phe255fs)
NM_001360.3(DHCR7):c.832-1G>C rs80338863
NM_001360.3(DHCR7):c.839A>G (p.Tyr280Cys) rs121909766
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu) rs184297154
NM_001360.3(DHCR7):c.99_194del
NM_001365999.1(SZT2):c.1496G>T (p.Ser499Ile) rs886041034
NM_001365999.1(SZT2):c.2092C>T (p.Gln698Ter) rs397515490
NM_001365999.1(SZT2):c.3668dup (p.Ala1224fs) rs1653321651
NM_001365999.1(SZT2):c.3871_3887del (p.Asn1291fs) rs1653397925
NM_001365999.1(SZT2):c.5653del (p.Gly1886fs) rs1654084368
NM_001365999.1(SZT2):c.73C>T (p.Arg25Ter) rs397515489
NM_001365999.1(SZT2):c.7613G>A (p.Cys2538Tyr) rs1553153691
NM_001365999.1(SZT2):c.7996T>G (p.Trp2666Gly) rs1655170724
NM_001365999.1(SZT2):c.8333C>G (p.Ser2778Cys) rs1276523236
NM_001367561.1(DOCK7):c.2510del (p.Asp837fs) rs886037665
NM_001367561.1(DOCK7):c.3709C>T (p.Arg1237Ter) rs587777484
NM_001367561.1(DOCK7):c.983C>G (p.Ser328Ter) rs886037666
NM_001371986.1(UNC80):c.151C>T (p.Arg51Ter) rs869025320
NM_001371986.1(UNC80):c.2033del (p.Asn678fs) rs869025318
NM_001371986.1(UNC80):c.565G>A (p.Val189Met) rs864321623
NM_001371986.1(UNC80):c.7805G>C (p.Arg2602Thr) rs869025317
NM_001371986.1(UNC80):c.7955T>A (p.Leu2652Ter) rs869025319
NM_001374353.1(GLI2):c.1272G>A (p.Trp424Ter) rs121917707
NM_001374353.1(GLI2):c.1384C>G (p.Arg462Gly) rs121917708
NM_001374353.1(GLI2):c.864_865del (p.His289fs) rs398122882
NM_001374828.1(ARID1B):c.2113C>T (p.Gln705Ter) rs387907142
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter) rs387907144
NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter) rs387907141
NM_001374828.1(ARID1B):c.3692_3693del (p.Lys1231fs) rs876657380
NM_001374828.1(ARID1B):c.4288C>T (p.Gln1430Ter) rs387907140
NM_001374828.1(ARID1B):c.4407T>A (p.Tyr1469Ter) rs748363079
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.4991_5000del (p.Gln1664fs) rs876657382
NM_001374828.1(ARID1B):c.5698A>T (p.Lys1900Ter) rs387907143
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001374828.1(ARID1B):c.6001del (p.Asp2001fs) rs876657381
NM_001374828.1(ARID1B):c.6832_6842del (p.Ser2278fs) rs876657379
NM_001375380.1(EBF3):c.196A>G (p.Asn66Asp) rs1057519518
NM_001375380.1(EBF3):c.280_283del (p.Glu94fs) rs1057519521
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys) rs1057519519
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln) rs1057519389
NM_001375380.1(EBF3):c.488G>C (p.Arg163Pro) rs1057519389
NM_001375380.1(EBF3):c.488G>T (p.Arg163Leu) rs1057519389
NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu) rs869312668
NM_001375380.1(EBF3):c.579G>T (p.Lys193Asn) rs1057519520
NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter) rs1057519522
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp) rs779003155
NM_001378183.1(PIEZO2):c.8395C>T (p.Arg2799Cys) rs587777451
NM_001378964.1(CDON):c.2065C>G (p.Pro689Ala) rs387906995
NM_001378964.1(CDON):c.2339T>A (p.Val780Glu) rs387906996
NM_001378964.1(CDON):c.2368A>G (p.Thr790Ala) rs387906997
NM_001379291.1(BRD4):c.1224delinsCA (p.Glu408fs)
NM_001379291.1(BRD4):c.1289A>G (p.Tyr430Cys)
NM_001379291.1(BRD4):c.2753_2754insT (p.Pro919fs)
NM_001379291.1(BRD4):c.883A>C (p.Thr295Pro)
NM_001379403.1(WDR26):c.1062T>G (p.Ser354Arg) rs150512167
NM_001379403.1(WDR26):c.1150G>A (p.Asp384Asn) rs1553359384
NM_001379403.1(WDR26):c.1204_1205del (p.Gln402fs) rs1553359034
NM_001379403.1(WDR26):c.1461_1462del (p.His489fs) rs1553354980
NM_001379403.1(WDR26):c.1576G>T (p.Glu526Ter) rs1553354926
NM_001379403.1(WDR26):c.1757del (p.Val586fs) rs1553353378
NM_001394372.1(BICRA):c.192G>C (p.Glu64Asp) rs2123584339
NM_001394372.1(BICRA):c.1993C>T (p.Gln665Ter) rs1229548274
NM_001394372.1(BICRA):c.2479_2480delinsA (p.Ala827fs) rs2123606076
NM_001394372.1(BICRA):c.3247dup (p.Cys1083fs) rs1973345860
NM_001394372.1(BICRA):c.936del (p.Ala313fs) rs1973010599
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.104_107del (p.Ser35fs) rs886037664
NM_001429.4(EP300):c.1942C>T (p.Arg648Ter) rs137853039
NM_001429.4(EP300):c.2877_2884del (p.Thr960fs) rs1569108381
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.638del (p.Gly213fs) rs1569090642
NM_001429.4(EP300):c.7100del (p.Pro2367fs) rs1569122847
NM_001429.4:c.730_1760del
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) rs281875325
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) rs11549190
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe) rs281875326
NM_001614.5(ACTG1):c.608C>A (p.Thr203Lys) rs281875327
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001791.4(CDC42):c.196A>G (p.Arg66Gly) rs797044870
NM_001791.4(CDC42):c.242G>T (p.Cys81Phe) rs1553196100
NM_001791.4(CDC42):c.247T>C (p.Ser83Pro) rs1553196101
NM_001791.4(CDC42):c.511G>A (p.Glu171Lys) rs1553196539
NM_001791.4(CDC42):c.62T>C (p.Ile21Thr) rs1064795845
NM_001797.4(CDH11):c.1116_1117delinsGATCATCAG (p.Ile372fs) rs1555514463
NM_001797.4(CDH11):c.696C>G (p.Tyr232Ter) rs1555515924
NM_001797.4(CDH11):c.999+1G>T rs1555515331
NM_001904.4(CTNNB1):c.1272_1275del (p.Ser425fs) rs398122907
NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs) rs1057519379
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter) rs397514554
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter) rs886039332
NM_001904.4(CTNNB1):c.1672C>T (p.Gln558Ter) rs1131692181
NM_001904.4(CTNNB1):c.705dup (p.Gly236fs) rs587777412
NM_001904.4(CTNNB1):c.925C>T (p.Gln309Ter) rs376393123
NM_002048.3(GAS1):c.776G>A (p.Gly259Glu) rs387907166
NM_002139.4(RBMX):c.1037_1059del (p.Glu346fs)
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_002397.5(MEF2C):c.-66A>T rs1350600010
NM_002397.5(MEF2C):c.-8C>T rs2153222958
NM_002397.5(MEF2C):c.113T>A (p.Leu38Gln) rs397514655
NM_002397.5(MEF2C):c.220G>T (p.Glu74Ter) rs2153074000
NM_002397.5(MEF2C):c.458del (p.Asn153fs) rs730882192
NM_002397.5(MEF2C):c.683C>G (p.Ser228Ter) rs267607233
NM_002397.5(MEF2C):c.80G>C (p.Gly27Ala) rs397514656
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer) rs587783749
NM_002397.5(MEF2C):c.99dup (p.Glu34Ter) rs2153074822
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter) rs387906726
NM_002641.4(PIGA):c.230G>T (p.Arg77Leu) rs587777398
NM_002641.4(PIGA):c.278C>T (p.Pro93Leu) rs587777400
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002641.4(PIGA):c.616A>T (p.Ile206Phe) rs201119959
NM_002641.4(PIGA):c.76dup (p.Tyr26fs) rs587777397
NM_002645.3(PIK3C2A):c.(?_1-1)_4007+1_4008-1)del
NM_002645.4(PIK3C2A):c.1640+1G>T rs1565272952
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del) rs869025339
NM_002755.4(MAP2K1):c.371C>A (p.Pro124Gln) rs397516792
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002894.3(RBBP8):c.1808_1809del (p.Ile603fs) rs587776884
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.100G>T (p.Gly34Cys) rs387907306
NM_003036.4(SKI):c.101G>A (p.Gly34Asp) rs387907305
NM_003036.4(SKI):c.101G>T (p.Gly34Val) rs387907305
NM_003036.4(SKI):c.103C>T (p.Pro35Ser) rs397514590
NM_003036.4(SKI):c.104C>A (p.Pro35Gln) rs397514589
NM_003036.4(SKI):c.280_291del (p.Ser94_Ser97del) rs398122914
NM_003036.4(SKI):c.283_291del (p.Asp95_Ser97del) rs398122889
NM_003036.4(SKI):c.347G>A (p.Gly116Glu) rs387907303
NM_003036.4(SKI):c.94C>G (p.Leu32Val) rs387907304
NM_003070.5(SMARCA2):c.2255G>C (p.Gly752Ala) rs281875198
NM_003070.5(SMARCA2):c.2642G>T (p.Gly881Val) rs281875185
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu) rs281875188
NM_003070.5(SMARCA2):c.2815C>T (p.His939Tyr) rs281875190
NM_003070.5(SMARCA2):c.3395G>A (p.Gly1132Asp) rs387907194
NM_003070.5(SMARCA2):c.3473A>T (p.Asp1158Val) rs281875240
NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly) rs281875184
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln) rs281875187
NM_003070.5(SMARCA2):c.3476G>T (p.Arg1159Leu) rs281875187
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys) rs281875239
NM_003070.5(SMARCA2):c.3637C>T (p.Arg1213Trp) rs281875238
NM_003072.5(SMARCA4):c.1633AAG[1] (p.Lys546del) rs876657378
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.2761C>T (p.Leu921Phe) rs281875228
NM_003072.5(SMARCA4):c.3032T>C (p.Met1011Thr) rs281875229
NM_003072.5(SMARCA4):c.3469C>G (p.Arg1157Gly) rs281875230
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003076.5(SMARCD1):c.1336A>G (p.Arg446Gly) rs1592294569
NM_003076.5(SMARCD1):c.1457G>A (p.Trp486Ter) rs1592295890
NM_003076.5(SMARCD1):c.1483T>C (p.Phe495Leu) rs1592295914
NM_003076.5(SMARCD1):c.1507C>T (p.Arg503Ter) rs372368908
NM_003076.5(SMARCD1):c.990C>G (p.Asp330Glu) rs1592289150
NM_003079.5(SMARCE1):c.218A>C (p.Tyr73Ser) rs387906857
NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys) rs387906857
NM_003107.3(SOX4):c.130_133delinsCGCT (p.Gly44_Lys45delinsArgTer)
NM_003107.3(SOX4):c.1333G>T (p.Glu445Ter)
NM_003107.3(SOX4):c.176T>G (p.Ile59Ser) rs1582601669
NM_003107.3(SOX4):c.198C>A (p.Phe66Leu) rs1334099693
NM_003107.3(SOX4):c.315G>T (p.Lys105Asn) rs1582601747
NM_003107.3(SOX4):c.334G>C (p.Ala112Pro) rs1464282327
NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
NM_003108.4(SOX11):c.178T>C (p.Ser60Pro) rs587777480
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp) rs1665660543
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro) rs1064794628
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys) rs587777479
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
NM_003184.4(TAF2):c.1247C>A (p.Pro416His) rs398124655
NM_003184.4(TAF2):c.1945T>C (p.Trp649Arg) rs398124645
NM_003184.4(TAF2):c.2380T>A (p.Tyr794Asn) rs2131063622
NM_003184.4(TAF2):c.557C>G (p.Thr186Arg) rs398124656
NM_003193.5(TBCE):c.1113T>A (p.Cys371Ter) rs121908384
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003193.5(TBCE):c.66_67del (p.Val23fs) rs1572324681
NM_003244.4(TGIF1):c.16+1651C>G rs121909070
NM_003244.4(TGIF1):c.188C>G (p.Pro63Arg) rs121909067
NM_003403.5(YY1):c.1030C>T (p.Gln344Ter) rs1131692045
NM_003403.5(YY1):c.1096C>G (p.Leu366Val) rs1131692044
NM_003403.5(YY1):c.1097T>C (p.Leu366Pro) rs1131692163
NM_003403.5(YY1):c.1138G>T (p.Asp380Tyr) rs1131692043
NM_003403.5(YY1):c.535A>T (p.Lys179Ter) rs1131692046
NM_003482.4(KMT2D):c.13579A>T (p.Lys4527Ter) rs267607240
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter) rs267607239
NM_003482.4(KMT2D):c.16391C>T (p.Thr5464Met) rs267607238
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003620.4(PPM1D):c.1216del (p.Thr406fs) rs747947002
NM_003620.4(PPM1D):c.1221T>A (p.Cys407Ter) rs189669693
NM_003620.4(PPM1D):c.1250dup (p.Pro418fs) rs1064797100
NM_003620.4(PPM1D):c.1270dup (p.Glu424fs) rs1064797098
NM_003737.4(DCHS1):c.2503G>T (p.Gly835Ter) rs483352917
NM_003737.4(DCHS1):c.2543del (p.Thr848fs) rs483352918
NM_003737.4(DCHS1):c.7109A>T (p.Asn2370Ile) rs483352919
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro) rs782768127
NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn) rs1554763777
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro) rs1554764058
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro) rs1010907740
NM_003801.4(GPAA1):c.920del (p.Gly307fs) rs1554764067
NM_003801.4(GPAA1):c.981_993del (p.Gln327fs) rs1554764080
NM_003922.4(HERC1):c.13559G>A (p.Gly4520Glu) rs769677823
NM_003922.4(HERC1):c.14072G>C (p.Arg4691Pro) rs757446033
NM_003922.4(HERC1):c.2625G>A (p.Trp875Ter) rs879253786
NM_003922.4(HERC1):c.4906-2A>C rs797045141
NM_003922.4(HERC1):c.9748C>T (p.Arg3250Ter) rs753780877
NM_004044.7(ATIC):c.131delinsGGA (p.Ala44fs) rs2105985030
NM_004044.7(ATIC):c.1654A>T (p.Lys552Ter) rs1389373911
NM_004044.7(ATIC):c.406G>A (p.Ala136Thr) rs1575116846
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro) rs199422235
NM_004187.5(KDM5C):c.1353C>G (p.Ser451Arg) rs199422237
NM_004187.5(KDM5C):c.202dup (p.Arg68fs) rs782600511
NM_004187.5(KDM5C):c.2080C>T (p.Arg694Ter) rs199422236
NM_004187.5(KDM5C):c.2172C>A (p.Cys724Ter) rs281860639
NM_004187.5(KDM5C):c.2191C>T (p.Leu731Phe) rs199422234
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr) rs199422239
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del) rs766667249
NM_004204.5(PIGQ):c.1578_1579del (p.Arg527fs) rs2035826930
NM_004214.5(FIBP):c.175_176insTAA (p.His59delinsLeuAsn) rs886037928
NM_004214.5(FIBP):c.652C>T (p.Gln218Ter) rs786204849
NM_004247.4(EFTUD2):c.1759_1760del (p.Val587fs) rs879253725
NM_004247.4(EFTUD2):c.1910T>G (p.Leu637Arg) rs387906879
NM_004247.4(EFTUD2):c.2493C>A (p.Tyr831Ter) rs879253726
NM_004247.4(EFTUD2):c.2496C>G (p.Tyr832Ter) rs879253727
NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter) rs387906878
NM_004247.4(EFTUD2):c.2823+1del rs879253728
NM_004247.4(EFTUD2):c.623A>G (p.His208Arg) rs397515431
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) rs387906877
NM_004278.4(PIGL):c.274del (p.Leu92fs) rs758633805
NM_004278.4(PIGL):c.652C>T (p.Gln218Ter) rs139004722
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter) rs121434625
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.3837-2A>T rs1567277287
NM_004380.3(CREBBP):c.406C>T (p.Gln136Ter) rs121434624
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro) rs121434626
NM_004380.3(CREBBP):c.4404_4405del (p.Gly1469fs) rs2151330140
NM_004456.5(EZH2):c.2050C>T (p.Arg684Cys) rs587783626
NM_004456.5(EZH2):c.2080C>T (p.His694Tyr) rs193921147
NM_004456.5(EZH2):c.2199C>G (p.Tyr733Ter) rs776312600
NM_004456.5(EZH2):c.2204_2211dup (p.Ala738fs) rs2129465354
NM_004456.5(EZH2):c.394C>T (p.Pro132Ser) rs193921148
NM_004456.5(EZH2):c.457_459del (p.Tyr153del) rs193921146
NM_004715.5(CTDP1):c.863+389C>T rs113994102
NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe) rs786205165
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys) rs869312666
NM_004958.4(MTOR):c.6981G>A (p.Met2327Ile) rs878855328
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) rs387907361
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) rs1085307941
NM_005122.5(NR1I3):c.728T>C (p.Phe243Ser) rs398122411
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) rs267606726
NM_005342.4(HMGB3):c.480_481dup (p.Lys161fs) rs431825172
NM_005343.4(HRAS):c.108_110dup (p.Glu37dup) rs398122809
NM_005343.4(HRAS):c.110_111+1dup rs398122808
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005343.4(HRAS):c.187G>A (p.Glu63Lys) rs121917756
NM_005343.4(HRAS):c.187_207dup (p.Glu63_Asp69dup) rs587777239
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.350A>G (p.Lys117Arg) rs104894227
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) rs281875320
NM_005360.5(MAF):c.161C>T (p.Ser54Leu) rs727502766
NM_005360.5(MAF):c.172A>G (p.Thr58Ala) rs727502767
NM_005360.5(MAF):c.173C>T (p.Thr58Ile) rs727502769
NM_005360.5(MAF):c.176C>A (p.Pro59His) rs727502770
NM_005360.5(MAF):c.176C>T (p.Pro59Leu) rs727502770
NM_005360.5(MAF):c.206C>G (p.Pro69Arg) rs727502768
NM_005413.3(SIX3):c.[206G>A;406_407dup]
NM_005413.4(SIX3):c.339G>T (p.Trp113Cys) rs137853021
NM_005413.4(SIX3):c.385G>T (p.Glu129Ter) rs387906867
NM_005413.4(SIX3):c.556_557dup (p.Pro187fs) rs1572624159
NM_005413.4(SIX3):c.676C>G (p.Leu226Val) rs121917878
NM_005413.4(SIX3):c.749T>C (p.Val250Ala) rs121917880
NM_005413.4(SIX3):c.770G>C (p.Arg257Pro) rs121917879
NM_005445.4(SMC3):c.1138_1152del (p.Gly380_Gln384del) rs1861074646
NM_005445.4(SMC3):c.139T>C (p.Phe47Leu) rs863225258
NM_005445.4(SMC3):c.1461AGA[1] (p.Glu488del) rs863223279
NM_005445.4(SMC3):c.1462G>A (p.Glu488Lys) rs863225260
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp) rs587784425
NM_005445.4(SMC3):c.1997G>C (p.Gly666Ala) rs863225261
NM_005445.4(SMC3):c.2750A>C (p.His917Pro) rs797044861
NM_005445.4(SMC3):c.703_705del (p.Thr235del) rs863225259
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro) rs587784429
NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del) rs782433037
NM_005629.4(SLC6A8):c.1011C>G (p.Cys337Trp) rs122453116
NM_005629.4(SLC6A8):c.1141G>C (p.Gly381Arg) rs122453114
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1473C>G (p.Cys491Trp) rs122453118
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg) rs122453115
NM_005629.4(SLC6A8):c.263-2A>G rs1569539244
NM_005629.4(SLC6A8):c.395G>T (p.Gly132Val) rs122453117
NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter) rs1569539359
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005862.3(STAG1):c.1433A>C (p.His478Pro) rs1553722309
NM_005862.3(STAG1):c.1460_1464dup (p.Trp489fs) rs1553722294
NM_005862.3(STAG1):c.1736dup (p.Ser580fs) rs1553718528
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly) rs1553738686
NM_005993.5(TBCD):c.1160T>G (p.Met387Arg) rs886041086
NM_005993.5(TBCD):c.1564-12C>G rs886041084
NM_005993.5(TBCD):c.1876G>A (p.Ala626Thr) rs749225304
NM_005993.5(TBCD):c.2280C>A (p.Tyr760Ter) rs754750539
NM_005993.5(TBCD):c.2810C>G (p.Pro937Arg) rs886041087
NM_006015.6(ARID1A):c.1113del (p.Gln372fs) rs875989848
NM_006015.6(ARID1A):c.2758C>T (p.Gln920Ter) rs387906845
NM_006015.6(ARID1A):c.31_56del (p.Ser11fs) rs797045262
NM_006015.6(ARID1A):c.3679G>T (p.Glu1227Ter) rs875989849
NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter) rs387906846
NM_006015.6(ARID1A):c.5965C>T (p.Arg1989Ter) rs879255270
NM_006245.4(PPP2R5D):c.157C>T (p.Pro53Ser) rs757369209
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006245.4(PPP2R5D):c.602C>G (p.Pro201Arg) rs876657383
NM_006245.4(PPP2R5D):c.619T>A (p.Trp207Arg) rs869320691
NM_006265.3(RAD21):c.1127C>G (p.Pro376Arg) rs387907212
NM_006265.3(RAD21):c.1217_1224del (p.Lys406fs) rs1812376090
NM_006265.3(RAD21):c.1548delinsTC (p.Glu518fs) rs1812331711
NM_006265.3(RAD21):c.1621-384_1704+199del
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg) rs387907213
NM_006265.3(RAD21):c.1774_1776del (p.Gln592del) rs1563686762
NM_006265.3(RAD21):c.1843G>T (p.Glu615Ter) rs1425483905
NM_006265.3(RAD21):c.589C>T (p.Gln197Ter) rs1352385210
NM_006265.3(RAD21):c.593dup (p.Ser198fs) rs2130469261
NM_006265.3(RAD21):c.704del (p.Ser235fs) rs1812478613
NM_006265.3(RAD21):c.943_946del (p.Glu315fs) rs2130463115
NM_006268.5(DPF2):c.1037A>G (p.Asp346Gly) rs1555032044
NM_006268.5(DPF2):c.1049G>A (p.Arg350His) rs1555032051
NM_006268.5(DPF2):c.1099+1G>A rs1555032074
NM_006268.5(DPF2):c.827G>T (p.Cys276Phe) rs1555031372
NM_006268.5(DPF2):c.990C>G (p.Cys330Trp) rs1555031500
NM_006280.3(SSR4):c.187-301_352-15del rs1557072752
NM_006280.3(SSR4):c.317del (p.Phe106fs) rs606231298
NM_006280.3(SSR4):c.358_359del (p.Arg120fs) rs794729223
NM_006280.3(SSR4):c.417+1G>A rs1057518735
NM_006280.3(SSR4):c.418-1G>A rs1057518736
NM_006306.4(SMC1A):c.1478A>C (p.Glu493Ala) rs122454122
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His) rs122454123
NM_006306.4(SMC1A):c.173_187del (p.Val58_Arg62del)
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.4(SMC1A):c.2493_2495del (p.Asp831_Gln832delinsGlu) rs1602407457
NM_006438.5(COLEC10):c.228del (p.Gly77fs) rs1060505022
NM_006565.4(CTCF):c.1186dup (p.Arg396fs) rs879255571
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006565.4(CTCF):c.375dup (p.Val126fs) rs879255570
NM_006623.4(PHGDH):c.1A>C (p.Met1Leu)
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys) rs587777774
NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro) rs587777775
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter) rs1555465891
NM_006662.3(SRCAP):c.7000C>T (p.Gln2334Ter) rs587777656
NM_006662.3(SRCAP):c.7218dup (p.Gln2407fs) rs2151300039
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006662.3(SRCAP):c.7549del (p.Gln2517fs) rs199469466
NM_006662.3(SRCAP):c.7863dup (p.Gln2622fs) rs587776938
NM_006766.5(KAT6A):c.1928A>G (p.Asn643Ser) rs1822412202
NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter) rs786200961
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) rs786200959
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs) rs786200952
NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter) rs138944476
NM_006766.5:c.3411del rs2150857178
NM_006908.5(RAC1):c.116A>G (p.Asn39Ser)
NM_006908.5(RAC1):c.151G>A (p.Val51Met) rs1554263625
NM_006908.5(RAC1):c.151G>C (p.Val51Leu) rs1554263625
NM_006908.5(RAC1):c.181C>G (p.Gln61Glu)
NM_006908.5(RAC1):c.190T>G (p.Tyr64Asp) rs1554263626
NM_006908.5(RAC1):c.191A>G (p.Tyr64Cys) rs2115201389
NM_006908.5(RAC1):c.202C>A (p.Arg68Ser)
NM_006908.5(RAC1):c.202C>G (p.Arg68Gly)
NM_006908.5(RAC1):c.470G>A (p.Cys157Tyr) rs1554264268
NM_006908.5(RAC1):c.53G>A (p.Cys18Tyr) rs1554263326
NM_007055.4(POLR3A):c.*18C>T rs1248039821
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=) rs1564620047
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) rs1564617848
NM_007055.4(POLR3A):c.3337-1G>A rs1041175828
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) rs1168641193
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) rs768222183
NM_007055.4(POLR3A):c.[1909+22G>A;3337-11T>C]
NM_007059.4(KPTN):c.714_731dup (p.Gln246_Asp247insMetTrpSerValLeuGln) rs587777148
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter) rs1554062562
NM_007118.4(TRIO):c.3752del (p.Asp1251fs) rs879255623
NM_007118.4(TRIO):c.3895G>A (p.Glu1299Lys) rs1746763024
NM_007118.4(TRIO):c.4128G>A (p.Trp1376Ter) rs879255622
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_007118.4(TRIO):c.4381C>A (p.Pro1461Thr) rs879255627
NM_007118.4(TRIO):c.4466del (p.Gln1489fs) rs879255625
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs) rs752676391
NM_007118.4(TRIO):c.649A>T (p.Arg217Ter) rs879255624
NM_007129.4(ZIC2):c.177_178ins56
NM_007129.5(ZIC2):c.1042_1048del (p.Glu348fs) rs397515365
NM_007129.5(ZIC2):c.1318dup (p.Leu440fs) rs397515364
NM_007129.5(ZIC2):c.1366GCN[45] (p.Ala456[15])
NM_007129.5(ZIC2):c.397_403del (p.Gly133fs) rs1594290658
NM_007129.5(ZIC2):c.857_858del (p.His286fs) rs2152162709
NM_007363.5(NONO):c.1093C>T (p.Arg365Ter) rs869025345
NM_007363.5(NONO):c.1131G>A (p.Ala377=) rs869025343
NM_007363.5(NONO):c.1171G>T (p.Gly391Cys) rs1114167441
NM_007363.5(NONO):c.1394dup (p.Asn466fs) rs869025344
NM_007363.5(NONO):c.154+1GT[2]
NM_012233.3(RAB3GAP1):c.1410C>A (p.Tyr470Ter) rs267606996
NM_012233.3(RAB3GAP1):c.1734G>A (p.Trp578Ter) rs137853053
NM_012233.3(RAB3GAP1):c.2011C>T (p.Arg671Ter) rs137853052
NM_012233.3(RAB3GAP1):c.2037_2055dup (p.Phe686fs) rs587777153
NM_012233.3(RAB3GAP1):c.2187_2188delinsCT (p.Met729_Lys730delinsIleTer) rs2104983369
NM_012233.3(RAB3GAP1):c.264_270delinsTTATTA (p.Lys89fs) rs730882184
NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs) rs730882182
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro) rs587777154
NM_012233.3(RAB3GAP1):c.649-2A>G rs730882183
NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val) rs587777155
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_012330.3(KAT6B):c.3681_3696del16 (p.Asp1227Glufs) rs199470469
NM_012330.4(KAT6B):c.3018del (p.Glu1007fs) rs199470468
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs) rs199470470
NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs) rs199470472
NM_012330.4(KAT6B):c.3802G>T (p.Gly1268Ter) rs199470473
NM_012330.4(KAT6B):c.3892G>T (p.Gly1298Ter) rs199470475
NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter) rs199470476
NM_012330.4(KAT6B):c.4360_4368delinsAAAAACCAAAA (p.Glu1454fs) rs199470478
NM_012330.4(KAT6B):c.4405dup (p.Ser1469fs) rs199470479
NM_012330.4(KAT6B):c.5064_5071delinsCACA (p.Met1690fs) rs387907364
NM_012330.4(KAT6B):c.5370_5373dup (p.Ile1792fs) rs199470483
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) rs199470484
NM_012330.4(KAT6B):c.847-2A>G rs1841745686
NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter) rs587777168
NM_012414.4(RAB3GAP2):c.1955T>A (p.Leu652Ter) rs2102866096
NM_012414.4(RAB3GAP2):c.2488C>T (p.Gln830Ter) rs2102859415
NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter) rs587777170
NM_012414.4(RAB3GAP2):c.3154G>T (p.Gly1052Cys) rs121434310
NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter) rs587777169
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del) rs1553278569
NM_013275.6(ANKRD11):c.2305del (p.Ser769fs) rs863223320
NM_013275.6(ANKRD11):c.5953_5954del (p.Gln1985fs) rs863223321
NM_013275.6(ANKRD11):c.6210_6211del (p.Lys2070fs) rs863225257
NM_013275.6(ANKRD11):c.7570-1G>C rs863223319
NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys) rs863225429
NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala) rs863225428
NM_014141.5(CNTNAP2):c.(?_550)+15275_(1349_?)-61303del
NM_014141.5(CNTNAP2):c.(?_97)+117643_(1670_?)+6605del
NM_014141.6(CNTNAP2):c.1480G>T (p.Glu494Ter) rs149032771
NM_014141.6(CNTNAP2):c.1671-1G>T rs730880276
NM_014141.6(CNTNAP2):c.2046C>A (p.Cys682Ter) rs201076428
NM_014141.6(CNTNAP2):c.2964del (p.Cys989fs) rs1554400338
NM_014141.6(CNTNAP2):c.3709del (p.Asp1237fs) rs730880275
NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu) rs786205228
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His) rs863225094
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014243.3(ADAMTS3):c.872T>C (p.Ile291Thr) rs61757480
NM_014305.4(TGDS):c.270_271del (p.Lys91fs) rs727502809
NM_014305.4(TGDS):c.294T>G (p.Phe98Leu) rs727502808
NM_014305.4(TGDS):c.892A>G (p.Asn298Asp) rs724160005
NM_014423.4(AFF4):c.760A>G (p.Thr254Ala) rs786205233
NM_014423.4(AFF4):c.761C>G (p.Thr254Ser) rs786205679
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp) rs786205680
NM_014754.3(PTDSS1):c.1058A>G (p.Gln353Arg) rs587777088
NM_014754.3(PTDSS1):c.794T>C (p.Leu265Pro) rs587777090
NM_014754.3(PTDSS1):c.805C>T (p.Pro269Ser) rs587777089
NM_014795.4(ZEB2):c.-69-1G>A rs587776612
NM_014795.4(ZEB2):c.1173_1176del (p.Thr392fs) rs587776603
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1645A>T (p.Arg549Ter) rs137852980
NM_014795.4(ZEB2):c.1862del (p.Val621fs) rs587776611
NM_014795.4(ZEB2):c.1892del (p.Asn631fs) rs587776607
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2453dup (p.Leu818fs) rs587776606
NM_014795.4(ZEB2):c.2555C>G (p.Ser852Ter) rs137852982
NM_014795.4(ZEB2):c.3134A>G (p.His1045Arg) rs397515449
NM_014795.4(ZEB2):c.3211T>C (p.Ser1071Pro) rs397515448
NM_014795.4(ZEB2):c.3356A>G (p.Gln1119Arg) rs137852983
NM_014795.4(ZEB2):c.3566_3567dup (p.Met1190fs) rs587776609
NM_014795.4(ZEB2):c.553_554insTG (p.Arg185fs) rs587776608
NM_014795.4(ZEB2):c.760_761dup (p.Gln255fs) rs587776605
NM_014846.4(WASHC5):c.3335+2T>A rs398123007
NM_014996.4(PLCH1):c.3211del (p.Cys1071fs) rs2108014903
NM_015100.4(POGZ):c.1277dup (p.Pro426_Glu427insTer) rs869320763
NM_015100.4(POGZ):c.2590C>T (p.Arg864Ter) rs756659230
NM_015100.4(POGZ):c.2711T>A (p.Leu904Ter) rs864321668
NM_015100.4(POGZ):c.2763dup (p.Thr922fs) rs864321672
NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter) rs864321674
NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter) rs869312833
NM_015100.4(POGZ):c.3354del (p.Leu1119fs) rs864321667
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015100.4(POGZ):c.3847C>T (p.Gln1283Ter) rs869312834
NM_015100.4(POGZ):c.460-2A>C rs2102303238
NM_015100.4(POGZ):c.833C>G (p.Ser278Ter) rs864321673
NM_015107.3(PHF8):c.529A>T (p.Lys177Ter) rs121918523
NM_015107.3(PHF8):c.631C>T (p.Arg211Ter) rs121918522
NM_015107.3(PHF8):c.738dup (p.His247fs)
NM_015107.3(PHF8):c.836T>C (p.Phe279Ser) rs121918524
NM_015107.3(PHF8):c.943_946+8del
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs) rs869025286
NM_015335.5(MED13L):c.3765del (p.Cys1256fs) rs147976828
NM_015335.5(MED13L):c.480-1G>T rs869025288
NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs) rs869025287
NM_015338.6(ASXL1):c.1720A>G (p.Ile574Val) rs2011649912
NM_015338.6(ASXL1):c.2197C>T (p.Gln733Ter) rs387907078
NM_015338.6(ASXL1):c.2407_2411del (p.Gln803fs) rs1600588199
NM_015338.6(ASXL1):c.2535dup (p.Ser846fs) rs750170870
NM_015338.6(ASXL1):c.2773C>T (p.Gln925Ter) rs387907077
NM_015338.6(ASXL1):c.3083C>A (p.Ser1028Ter) rs200702600
NM_015443.4(KANSL1):c.1652+1G>A rs281865470
NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter) rs281865469
NM_015443.4(KANSL1):c.2785_2786del (p.Arg929fs) rs281865471
NM_015443.4(KANSL1):c.572del (p.Gly191fs) rs1555575816
NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter) rs281865468
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_015570.4(AUTS2):c.857_858del (p.Lys286fs) rs864321694
NM_015634.4(KIFBP):c.250G>T (p.Glu84Ter) rs121434515
NM_015634.4(KIFBP):c.268C>T (p.Arg90Ter) rs121434514
NM_015634.4(KIFBP):c.605_606del (p.Arg202fs) rs730882151
NM_015937.6(PIGT):c.1096G>T (p.Gly366Trp) rs571714796
NM_015937.6(PIGT):c.547A>C (p.Thr183Pro) rs587777027
NM_016023.5(OTUD6B):c.379_383del (p.Leu127fs) rs759317757
NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys) rs1064797103
NM_016023.5(OTUD6B):c.83-2A>G rs1064797102
NM_016030.6(TRAPPC12):c.145del (p.Glu49fs) rs1553309983
NM_016030.6(TRAPPC12):c.360dup (p.Glu121fs) rs1135401749
NM_016111.3(TELO2):c.[514C>T;2034+1G>A]
NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys) rs1567417422
NM_016343.4(CENPF):c.171_199del (p.Asn57fs) rs757575602
NM_016343.4(CENPF):c.1744G>T (p.Glu582Ter) rs367624766
NM_016343.4(CENPF):c.5920dup (p.Thr1974fs) rs757531591
NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter) rs786205697
NM_016628.5(WAC):c.112del (p.Ser38fs) rs864321693
NM_016628.5(WAC):c.1721G>A (p.Trp574Ter) rs864321690
NM_016628.5(WAC):c.1852C>T (p.Gln618Ter) rs864321634
NM_016628.5(WAC):c.263_266del (p.Glu88fs) rs864321689
NM_016628.5(WAC):c.267_268dup (p.Asp90fs) rs864321691
NM_016628.5(WAC):c.374C>A (p.Ser125Ter) rs864321692
NM_017934.7(PHIP):c.298_299del (p.Leu100fs) rs1554212744
NM_017934.7(PHIP):c.328C>A (p.Arg110Ser) rs768324201
NM_017934.7(PHIP):c.3447T>G (p.Tyr1149Ter) rs1562128924
NM_017934.7(PHIP):c.3571C>T (p.Gln1191Ter) rs1554196907
NM_017934.7(PHIP):c.50T>C (p.Phe17Ser) rs878854420
NM_017934.7(PHIP):c.779del (p.Leu260fs) rs878854421
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018027.5(FRMD4A):c.2134_2146dup (p.Gly716fs) rs869025338
NM_018486.3(HDAC8):c.1001A>G (p.His334Arg) rs397515418
NM_018486.3(HDAC8):c.164+5G>A rs398122888
NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter) rs397515415
NM_018486.3(HDAC8):c.539A>G (p.His180Arg) rs397515416
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) rs398122909
NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs) rs763953657
NM_019023.5(PRMT7):c.1276-1G>A rs886039897
NM_020134.4(DPYSL5):c.121G>A (p.Glu41Lys) rs866373727
NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg) rs1558337060
NM_020314.7(VPS35L):c.1383+2T>A
NM_020314.7(VPS35L):c.2360C>T (p.Pro787Leu)
NM_020314.7(VPS35L):c.2488G>A (p.Ala830Thr) rs747119819
NM_020314.7(VPS35L):c.2715CAA[2] (p.Asn907del)
NM_020314.7(VPS35L):c.830dup (p.Cys277fs) rs1972596669
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln) rs1057521041
NM_020699.4(GATAD2B):c.1258T>C (p.Cys420Arg) rs1674357007
NM_020699.4(GATAD2B):c.1408C>T (p.Gln470Ter) rs587776931
NM_020699.4(GATAD2B):c.346C>T (p.Arg116Ter) rs886041621
NM_020699.4(GATAD2B):c.539T>C (p.Leu180Pro) rs1674576482
NM_020699.4(GATAD2B):c.552_555del (p.Lys184fs) rs1131692165
NM_020699.4(GATAD2B):c.565_566del (p.Gln190fs) rs886037647
NM_020699.4(GATAD2B):c.709C>T (p.Gln237Ter) rs1553188314
NM_020699.4(GATAD2B):c.76_80dup (p.Leu28fs) rs1131692164
NM_020771.4(HACE1):c.1852_1853del (p.Gln618fs) rs751809418
NM_020771.4(HACE1):c.2242C>T (p.Arg748Ter) rs869025281
NM_020771.4(HACE1):c.240C>A (p.Cys80Ter) rs761086584
NM_020771.4(HACE1):c.2487TCT[1] (p.Leu832del) rs869025283
NM_020771.4(HACE1):c.454C>T (p.Gln152Ter) rs869025284
NM_021252.5(RAB18):c.274AGA[1] (p.Arg93del) rs587776875
NM_021252.5(RAB18):c.619T>C (p.Ter207Gln) rs387906833
NM_021252.5(RAB18):c.71T>A (p.Leu24Gln) rs387906832
NM_022154.5(SLC39A8):c.[97G>A;1004G>C]
NM_022552.5(DNMT3A):c.1643T>A (p.Met548Lys) rs587777509
NM_022552.5(DNMT3A):c.1943T>C (p.Leu648Pro) rs587777507
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022552.5(DNMT3A):c.2705T>C (p.Phe902Ser) rs587777510
NM_022552.5(DNMT3A):c.889_891del (p.Trp297del) rs587777506
NM_022552.5(DNMT3A):c.929T>A (p.Ile310Asn) rs587777508
NM_022716.4(PRRX1):c.266_269dup (p.Arg92fs) rs398122375
NM_022716.4(PRRX1):c.269del (p.Lys90fs) rs398122375
NM_022716.4(PRRX1):c.338T>C (p.Phe113Ser) rs387906667
NM_022716.4(PRRX1):c.691G>C (p.Ala231Pro) rs1571354325
NM_023110.3(FGFR1):c.1867G>T (p.Asp623Tyr) rs398122946
NM_023110.3(FGFR1):c.2174G>A (p.Cys725Tyr) rs398122945
NM_023110.3(FGFR1):c.494T>C (p.Leu165Ser) rs397515481
NM_024027.5(COLEC11):c.309del (p.Gly104fs) rs2147963510
NM_024027.5(COLEC11):c.45del (p.Phe16fs) rs1572389284
NM_024027.5(COLEC11):c.505T>C (p.Ser169Pro) rs387907075
NM_024027.5(COLEC11):c.648_650del (p.Ser217del) rs2147975970
NM_024339.5(THOC6):c.135C>A (p.Tyr45Ter) rs772533643
NM_024339.5(THOC6):c.577C>T (p.Arg193Ter) rs1194408714
NM_024339.5(THOC6):c.611A>C (p.Gln204Pro) rs1567416845
NM_024339.5(THOC6):c.748A>C (p.Thr250Pro) rs1555498821
NM_024339.5(THOC6):c.793_794del (p.Thr265fs) rs773022351
NM_024339.5(THOC6):c.[298T>A;700G>C824G>A]
NM_024665.7(TBL1XR1):c.1336T>C (p.Tyr446His) rs1553808301
NM_024665.7(TBL1XR1):c.1337A>G (p.Tyr446Cys) rs878854402
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_024757.5(EHMT1):c.1413_1425del (p.Pro473fs) rs137852715
NM_024757.5(EHMT1):c.3218G>A (p.Cys1073Tyr) rs137852726
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter) rs137852714
NM_030632.3(ASXL3):c.1210C>T (p.Gln404Ter) rs587777061
NM_030632.3(ASXL3):c.1396C>T (p.Gln466Ter) rs587777062
NM_030632.3(ASXL3):c.1422dup (p.Glu475Ter) rs1555742148
NM_030632.3(ASXL3):c.1448dup (p.Thr484fs) rs1555742167
NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs) rs1555742500
NM_030632.3(ASXL3):c.3364C>T (p.Gln1122Ter) rs1064793765
NM_030632.3(ASXL3):c.4144C>T (p.Gln1382Ter) rs1555744086
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030662.4(MAP2K2):c.169T>G (p.Phe57Val) rs121434498
NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys) rs121434497
NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln) rs267607230
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp) rs387906800
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030665.4(RAI1):c.1449del (p.Glu484fs)
NM_030665.4(RAI1):c.253_271del (p.Leu85fs)
NM_030665.4(RAI1):c.2773_2801del (p.Val925fs)
NM_030665.4(RAI1):c.3801del (p.Thr1268fs) rs1598092236
NM_030665.4(RAI1):c.4685A>G (p.Gln1562Arg) rs104894634
NM_030665.4(RAI1):c.5265del (p.Arg1756fs)
NM_030665.4(RAI1):c.5423G>A (p.Ser1808Asn) rs104894633
NM_030973.4(MED25):c.116A>G (p.Tyr39Cys) rs794729668
NM_031263.4(HNRNPK):c.1361+1G>A
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_031263.4(HNRNPK):c.257+5G>A
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_031263.4(HNRNPK):c.464T>C (p.Leu155Pro) rs1564063967
NM_031263.4(HNRNPK):c.779dup (p.Phe261_Asp262insTer) rs886041807
NM_031263.4(HNRNPK):c.931_932insTT (p.Pro311fs) rs879255263
NM_031263.4(HNRNPK):c.953+1dup rs863223402
NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter) rs1554698681
NM_031307.4(PUS3):c.1181_1182del (p.Ser394fs) rs753229591
NM_031483.7(ITCH):c.2005_2008del (p.Glu669fs) rs1381447036
NM_031483.7(ITCH):c.394dup (p.Ile132fs) rs587776592
NM_031483.7(ITCH):c.603del (p.Leu202fs) rs1983332740
NM_032208.3(ANTXR1):c.1150G>A (p.Gly384Ser) rs869312897
NM_032208.3(ANTXR1):c.1221dup (p.Ala408fs) rs869312895
NM_032208.3(ANTXR1):c.1435-12A>G rs879255533
NM_032208.3(ANTXR1):c.262C>T (p.Arg88Ter) rs397514701
NM_032208.3(ANTXR1):c.411A>G (p.Gln137=) rs869312896
NM_032208.3(ANTXR1):c.505C>T (p.Arg169Ter) rs397514700
NM_033360.4(KRAS):c.*22C>G rs104894362
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) rs104894361
NM_033360.4(KRAS):c.211T>C (p.Tyr71His) rs387907205
NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) rs387907206
NM_052867.4(NALCN):c.1489del (p.Tyr497fs) rs869025188
NM_052867.4(NALCN):c.1924C>T (p.Gln642Ter) rs587777038
NM_052867.4(NALCN):c.2022_2023del (p.Cys675fs)
NM_052867.4(NALCN):c.3860G>T (p.Trp1287Leu) rs587777068
NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs) rs587777776
NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu) rs587777777
NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter) rs1563819620
NM_078480.3(PUF60):c.1448T>C (p.Val483Ala) rs1563818514
NM_078480.3(PUF60):c.24+1G>C rs1064795388
NM_078480.3(PUF60):c.407_410del (p.Ile136fs) rs1563826453
NM_078480.3(PUF60):c.505C>T (p.His169Tyr) rs398123001
NM_078480.3(PUF60):c.541G>A (p.Glu181Lys) rs1085307135
NM_078480.3(PUF60):c.901A>T (p.Lys301Ter) rs1563823411
NM_080632.3(UPF3B):c.1288C>T (p.Arg430Ter) rs122468181
NM_080632.3(UPF3B):c.478T>G (p.Tyr160Asp) rs122468182
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs) rs794727881
NM_080632.3(UPF3B):c.867_868del (p.Gly290fs) rs1603370185
NM_130466.4(UBE3B):c.1741+2T>C rs398123020
NM_130466.4(UBE3B):c.2098C>T (p.Gln700Ter) rs2136063413
NM_130466.4(UBE3B):c.2180A>C (p.Gln727Pro) rs398123023
NM_130466.4(UBE3B):c.2223_2224del (p.Arg741fs) rs398123021
NM_130466.4(UBE3B):c.2335G>A (p.Gly779Arg) rs2136067033
NM_130466.4(UBE3B):c.2990G>C (p.Arg997Pro) rs539407162
NM_130466.4(UBE3B):c.545-2A>G rs398123022
NM_130466.4(UBE3B):c.[1445T>A;1616T>C]
NM_133368.3(RSPRY1):c.121G>T (p.Gly41Cys) rs864309652
NM_133368.3(RSPRY1):c.1279dup (p.Thr427fs) rs864309651
NM_133433.4(NIPBL):c.-321_-320delinsA rs724159980
NM_133433.4(NIPBL):c.150del (p.Asn51fs) rs1554011042
NM_133433.4(NIPBL):c.1547dup (p.Ala517fs) rs1554016981
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys) rs121918264
NM_133433.4(NIPBL):c.3616_3618del (p.Ile1206del) rs121918266
NM_133433.4(NIPBL):c.3737C>G (p.Ala1246Gly) rs121918268
NM_133433.4(NIPBL):c.4606C>T (p.Arg1536Ter) rs121918269
NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter) rs121918267
NM_133433.4(NIPBL):c.7289A>G (p.Tyr2430Cys) rs121918265
NM_133433.4(NIPBL):c.7306dup (p.Ala2436fs) rs1561222491
NM_133433.4(NIPBL):c.7861-1G>C rs1561231553
NM_133459.4(CCBE1):c.305G>C (p.Cys102Ser) rs121908251
NM_133459.4(CCBE1):c.979G>C (p.Gly327Arg) rs121908252
NM_138425.4(C12orf57):c.152T>A (p.Leu51Gln) rs587776955
NM_138425.4(C12orf57):c.184C>T (p.Gln62Ter) rs587777698
NM_138927.4(SON):c.286C>T (p.Gln96Ter) rs886039777
NM_138927.4(SON):c.3073dup (p.Met1025fs) rs886039778
NM_138927.4(SON):c.4640del (p.His1547fs) rs886039776
NM_138927.4(SON):c.5549_5550del (p.Arg1850fs) rs886039774
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138927.4(SON):c.6002_6003insCC (p.Arg2002fs) rs886039775
NM_138927.4(SON):c.6233del (p.Pro2078fs) rs886039779
NM_139125.4(MASP1):c.1489C>T (p.His497Tyr) rs387906752
NM_139125.4(MASP1):c.1888T>C (p.Cys630Arg) rs387906753
NM_139125.4(MASP1):c.1997G>A (p.Gly666Glu) rs387906754
NM_139125.4(MASP1):c.2059G>A (p.Gly687Arg) rs533236263
NM_144628.4(TBC1D20):c.(70+1_71-1)_(*3107+1_?)del
NM_144628.4(TBC1D20):c.199C>T (p.Arg67Ter) rs587777157
NM_144628.4(TBC1D20):c.292C>T (p.Gln98Ter) rs587777158
NM_144628.4(TBC1D20):c.352_353del (p.Gln118fs) rs587777159
NM_144628.4(TBC1D20):c.672G>A (p.Trp224Ter) rs587777160
NM_152515.5(CKAP2L):c.554_555del (p.Lys185fs) rs727502805
NM_152515.5(CKAP2L):c.571dup (p.Ile191fs) rs727502802
NM_152515.5(CKAP2L):c.751del (p.Ser251fs) rs727502804
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter) rs120074154
NM_152564.5(VPS13B):c.11044+2T>C rs587777382
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs) rs386834064
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.6503T>G (p.Leu2168Arg) rs120074149
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp) rs120074153
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9331-1G>C rs386834119
NM_153816.2(SNX14):c.1108+1181_2108-2342del
NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys) rs201128942
NM_153816.6(SNX14):c.1894+1G>T rs876657386
NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter) rs876657385
NM_153816.6(SNX14):c.428T>A (p.Leu143Ter) rs876657387
NM_153816.6(SNX14):c.645dup (p.Glu216fs) rs869320748
NM_170606.3(KMT2C):c.10812_10815del (p.Lys3605fs) rs1554477105
NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter) rs1554580083
NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter) rs587777073
NM_170606.3(KMT2C):c.5216del (p.Pro1739fs) rs1554505381
NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter) rs779659766
NM_174916.3(UBR1):c.1440-1G>A rs1596118528
NM_174916.3(UBR1):c.2254+2T>C rs2141312913
NM_174916.3(UBR1):c.2839+5G>A rs1596106023
NM_174916.3(UBR1):c.407A>G (p.His136Arg) rs119477054
NM_176787.5(PIGN):c.1966C>T (p.Gln656Ter) rs886039217
NM_176787.5(PIGN):c.324_549+196del
NM_176787.5(PIGN):c.755A>T (p.Asp252Val) rs886039216
NM_176787.5(PIGN):c.808T>C (p.Ser270Pro) rs587777186
NM_178012.5(TUBB2B):c.1249G>A (p.Asp417Asn) rs397514567
NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys) rs398122369
NM_178012.5(TUBB2B):c.350T>C (p.Leu117Pro) rs397514569
NM_178012.5(TUBB2B):c.514T>C (p.Ser172Pro) rs137853194
NM_178012.5(TUBB2B):c.683T>C (p.Leu228Pro) rs137853195
NM_178012.5(TUBB2B):c.716G>T (p.Cys239Phe) rs878853284
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser) rs397514568
NM_178012.5(TUBB2B):c.793T>C (p.Phe265Leu) rs137853196
NM_183381.3(RNF13):c.932T>C (p.Leu311Ser) rs1559980771
NM_183381.3(RNF13):c.935T>C (p.Leu312Pro) rs1559980785
NM_194318.4(B3GLCT):c.1178G>A (p.Gly393Glu) rs267606675
NM_194318.4(B3GLCT):c.230dup (p.Leu77fs) rs1593258510
NM_198525.3(KIF7):c.217del (p.Ala73fs) rs797044465
NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter) rs387907045
NM_198525.3(KIF7):c.687del (p.Arg230fs) rs797044464
NM_198525.3(KIF7):c.811del (p.Glu271fs) rs797044466
R496C
SMC1A, 8.152-KB DEL
THOC2, 2.4-KB DEL, EX37-38DEL
nsv1067838

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.