ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome by 3billion, Medical Genetics

Included ClinVar conditions (870):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 821
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HGVS dbSNP gnomAD frequency
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) rs144139747 0.00081
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_000428.3(LTBP2):c.1686+3G>A rs190814774 0.00049
NM_001371986.1(UNC80):c.840C>G (p.Ile280Met) rs142126808 0.00043
NM_207361.6(FREM2):c.6201T>A (p.Asn2067Lys) rs114229197 0.00042
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_004793.4(LONP1):c.1925C>T (p.Thr642Met) rs371606894 0.00019
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_001367561.1(DOCK7):c.1292G>C (p.Gly431Ala) rs201785444 0.00018
NM_001379081.2(FREM1):c.4069G>A (p.Gly1357Arg) rs775399423 0.00015
NM_001286577.2(C2CD3):c.5726T>C (p.Leu1909Pro) rs138354490 0.00014
NM_001286577.2(C2CD3):c.5728C>G (p.Pro1910Ala) rs150116588 0.00014
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His) rs368695808 0.00013
NM_004793.4(LONP1):c.325A>G (p.Ile109Val) rs141593936 0.00013
NM_021922.3(FANCE):c.-100C>T rs374493565 0.00013
NM_030653.4(DDX11):c.1403dup (p.Ser469fs) rs778363138 0.00013
NM_030973.4(MED25):c.1786G>A (p.Val596Ile) rs369707406 0.00013
NM_001017420.3(ESCO2):c.1493A>C (p.Lys498Thr) rs143530690 0.00012
NM_014141.6(CNTNAP2):c.1943C>T (p.Thr648Met) rs534215627 0.00012
NM_176787.5(PIGN):c.1372G>A (p.Ala458Thr) rs370794466 0.00012
NM_207361.6(FREM2):c.4150C>T (p.His1384Tyr) rs192340937 0.00012
NM_025074.7(FRAS1):c.2962G>A (p.Val988Met) rs368228939 0.00011
NM_014780.5(CUL7):c.548G>A (p.Arg183Gln) rs200468701 0.00009
NM_015311.3(OBSL1):c.3980G>A (p.Arg1327Gln) rs560822587 0.00009
NM_030957.4(ADAMTS10):c.1994G>A (p.Arg665His) rs370179236 0.00009
NM_003937.3(KYNU):c.902+1G>A rs754953201 0.00008
NM_019023.5(PRMT7):c.499G>A (p.Val167Met) rs138763605 0.00007
NM_001003722.2(GLE1):c.-45T>C rs372008961 0.00006
NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu) rs549769200 0.00006
NM_001365999.1(SZT2):c.4370T>A (p.Phe1457Tyr) rs147201727 0.00006
NM_002894.3(RBBP8):c.2024C>T (p.Thr675Ile) rs186820592 0.00006
NM_003737.4(DCHS1):c.1595C>T (p.Thr532Met) rs775257367 0.00006
NM_004204.5(PIGQ):c.530G>A (p.Arg177His) rs774945335 0.00006
NM_015311.3(OBSL1):c.2056G>A (p.Val686Ile) rs202040862 0.00006
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00006
NM_003937.3(KYNU):c.455C>T (p.Thr152Met) rs146601376 0.00005
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile) rs202095223 0.00005
NM_004204.5(PIGQ):c.325G>A (p.Ala109Thr) rs767785877 0.00005
NM_007059.4(KPTN):c.102C>T (p.Gly34=) rs377099246 0.00005
NM_032444.4(SLX4):c.*98A>G rs551538592 0.00005
NM_001291303.3(FAT4):c.4228G>A (p.Val1410Met) rs781736766 0.00004
NM_003737.4(DCHS1):c.3769A>G (p.Thr1257Ala) rs143368111 0.00004
NM_006767.4(LZTR1):c.946G>A (p.Val316Met) rs370315661 0.00004
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp) rs527236031 0.00004
NM_016111.4(TELO2):c.194G>C (p.Cys65Ser) rs141008024 0.00004
NM_019023.5(PRMT7):c.1490G>A (p.Arg497Gln) rs753756119 0.00004
NM_173660.5(DOK7):c.1318G>A (p.Ala440Thr) rs753026831 0.00004
NM_198525.3(KIF7):c.50G>A (p.Arg17Gln) rs949983017 0.00004
NM_001291303.3(FAT4):c.11039C>T (p.Thr3680Met) rs367877267 0.00003
NM_001395413.1(POR):c.560A>G (p.Tyr187Cys) rs782681272 0.00003
NM_003801.4(GPAA1):c.1165-1C>T rs187027021 0.00003
NM_025074.7(FRAS1):c.7030-6G>A rs771012779 0.00003
NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly) rs886050980 0.00003
NM_001163435.3(TBCK):c.1897+1G>A rs374319146 0.00002
NM_001271938.2(MEGF8):c.7184C>T (p.Thr2395Met) rs758007485 0.00002
NM_001371986.1(UNC80):c.1513C>T (p.Arg505Ter) rs767633598 0.00002
NM_005631.5(SMO):c.1792G>A (p.Gly598Arg) rs762491039 0.00002
NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu) rs779286671 0.00002
NM_133459.4(CCBE1):c.552T>C (p.Thr184=) rs771507895 0.00002
NM_139057.4(ADAMTS17):c.1873G>T (p.Ala625Ser) rs756053197 0.00002
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met) rs753703762 0.00002
NM_170784.3(MKKS):c.1085A>G (p.His362Arg) rs373858682 0.00002
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln) rs374704368 0.00002
NM_000052.7(ATP7A):c.1286A>G (p.Glu429Gly) rs2077660217 0.00001
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00001
NM_000751.3(CHRND):c.823G>A (p.Gly275Ser) rs373187583 0.00001
NM_001009999.3(KDM1A):c.1901C>T (p.Thr634Met) rs1363624048 0.00001
NM_001031689.3(PLAA):c.340A>G (p.Thr114Ala) rs779454318 0.00001
NM_001291303.3(FAT4):c.2824A>G (p.Ile942Val) rs368138514 0.00001
NM_001291303.3(FAT4):c.3637G>T (p.Asp1213Tyr) rs762595829 0.00001
NM_001367561.1(DOCK7):c.4384A>G (p.Arg1462Gly) rs763342949 0.00001
NM_001367561.1(DOCK7):c.4717A>G (p.Ser1573Gly) rs376119113 0.00001
NM_001379081.2(FREM1):c.-12G>C rs375233918 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_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002880.4(RAF1):c.709G>A (p.Ala237Thr) rs587777588 0.00001
NM_004187.5(KDM5C):c.2517-7T>G rs1556838825 0.00001
NM_004260.4(RECQL4):c.2554_2565dup (p.Ala852_Cys855dup) rs1363648649 0.00001
NM_005120.3(MED12):c.1746G>A (p.Thr582=) rs773240125 0.00001
NM_005120.3(MED12):c.617G>A (p.Arg206Gln) rs2092288110 0.00001
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg) rs765746795 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005993.5(TBCD):c.1720C>T (p.His574Tyr) rs771477529 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_014780.5(CUL7):c.4570G>A (p.Val1524Ile) rs369045809 0.00001
NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp) rs765982075 0.00001
NM_015311.3(OBSL1):c.1972G>A (p.Glu658Lys) rs112487236 0.00001
NM_015937.6(PIGT):c.250G>T (p.Glu84Ter) rs756632799 0.00001
NM_020964.3(EPG5):c.1936A>G (p.Met646Val) rs745736928 0.00001
NM_022552.5(DNMT3A):c.1555-1G>A rs759936287 0.00001
NM_032444.4(SLX4):c.4618G>A (p.Glu1540Lys) rs769950582 0.00001
NM_207361.6(FREM2):c.3296A>G (p.Asn1099Ser) rs374360439 0.00001
NM_000052.7(ATP7A):c.1126A>G (p.Thr376Ala) rs782616685
NM_000052.7(ATP7A):c.1127C>A (p.Thr376Lys) rs2077659011
NM_000052.7(ATP7A):c.1835T>G (p.Ile612Ser) rs1569549840
NM_000052.7(ATP7A):c.2557G>T (p.Gly853Ter) rs2149097380
NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg) rs539177302
NM_000052.7(ATP7A):c.3103G>A (p.Ala1035Thr) rs2077968562
NM_000052.7(ATP7A):c.641T>C (p.Val214Ala)
NM_000052.7(ATP7A):c.924A>G (p.Ile308Met)
NM_000079.4(CHRNA1):c.271G>A (p.Asp91Asn) rs1684008469
NM_000135.4(FANCA):c.2150dup (p.Met717fs)
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter) rs2039260856
NM_000135.4(FANCA):c.2852+1del
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.4010+2T>C rs2062067746
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000138.5(FBN1):c.523C>T (p.Pro175Ser) rs891185586
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000165.5(GJA1):c.416T>A (p.Ile139Asn) rs2114283459
NM_000168.6(GLI3):c.1366G>T (p.Glu456Ter) rs200230864
NM_000168.6(GLI3):c.2598del (p.Ile867fs) rs2128706315
NM_000168.6(GLI3):c.3325G>T (p.Glu1109Ter) rs758667297
NM_000214.3(JAG1):c.1303_1304dup (p.Cys436fs)
NM_000214.3(JAG1):c.1713del (p.Cys572fs)
NM_000214.3(JAG1):c.190del (p.Arg64fs)
NM_000214.3(JAG1):c.2078_2079del (p.Asp692_Cys693insTer) rs2067301859
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter) rs863223655
NM_000214.3(JAG1):c.224T>C (p.Phe75Ser) rs2122644646
NM_000214.3(JAG1):c.2650C>T (p.Gln884Ter) rs2122597239
NM_000214.3(JAG1):c.2931del (p.Glu977fs) rs2122595901
NM_000214.3(JAG1):c.647del (p.Gly216fs)
NM_000264.5(PTCH1):c.258_259del (p.Leu87fs) rs864622212
NM_000346.4(SOX9):c.369dup (p.Ala124fs) rs2143240579
NM_000381.4(MID1):c.1310G>A (p.Trp437Ter) rs2147266860
NM_000381.4(MID1):c.769C>A (p.Arg257Ser)
NM_000428.3(LTBP2):c.804_821del (p.265PQSPPA[1]) rs554570575
NM_000540.3(RYR1):c.6500T>G (p.Ile2167Ser)
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_001009999.3(KDM1A):c.161C>T (p.Ala54Val)
NM_001018113.3(FANCB):c.195dup (p.Thr66fs) rs1602006627
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
NM_001031689.3(PLAA):c.850_860del (p.Asp284fs) rs2131392225
NM_001042750.2(STAG2):c.22C>A (p.Pro8Thr)
NM_001079872.2(CUL4B):c.1835T>C (p.Leu612Pro) rs2147328180
NM_001079872.2(CUL4B):c.2404A>T (p.Arg802Trp)
NM_001079872.2(CUL4B):c.53A>G (p.Gln18Arg) rs1199433297
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs) rs1085307760
NM_001080517.3(SETD5):c.2168T>A (p.Leu723Ter)
NM_001080517.3(SETD5):c.617G>A (p.Trp206Ter)
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) rs1555710726
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys) rs2144406630
NM_001083962.2(TCF4):c.560dup (p.Ser188fs) rs2146265828
NM_001083962.2(TCF4):c.975dup (p.Lys326fs)
NM_001083962.2(TCF4):c.990+1G>T rs2145729217
NM_001085049.3(MRAS):c.68G>T (p.Gly23Val) rs1576359216
NM_001085458.2(CTNND1):c.2233G>T (p.Glu745Ter) rs2137392998
NM_001101.5(ACTB):c.118C>T (p.His40Tyr) rs1373863123
NM_001101.5(ACTB):c.124G>A (p.Gly42Ser) rs1562719872
NM_001101.5(ACTB):c.142G>T (p.Gly48Cys) rs2128241410
NM_001101.5(ACTB):c.587G>A (p.Arg196His) rs281875334
NM_001101.5(ACTB):c.59G>A (p.Gly20Asp) rs536327578
NM_001101.5(ACTB):c.826G>A (p.Glu276Lys) rs1554329216
NM_001122659.3(EDNRB):c.1265_1283del (p.Lys422fs) rs2137599519
NM_001122659.3(EDNRB):c.801+1G>T rs2137610842
NM_001134673.4(NFIA):c.149_153del (p.Lys50fs) rs2100414172
NM_001134673.4(NFIA):c.442G>T (p.Glu148Ter) rs2100414767
NM_001145358.2(SIN3A):c.3045_3046dup (p.Ile1016fs) rs2141396556
NM_001145358.2(SIN3A):c.3653C>G (p.Thr1218Ser)
NM_001145358.2(SIN3A):c.474-1G>A
NM_001163435.3(TBCK):c.2130C>G (p.Tyr710Ter) rs1750962854
NM_001197104.2(KMT2A):c.10714A>G (p.Ile3572Val)
NM_001197104.2(KMT2A):c.11514-2A>C rs2135292977
NM_001197104.2(KMT2A):c.173dup (p.Ala59fs) rs1555138552
NM_001197104.2(KMT2A):c.2198A>G (p.Asn733Ser) rs1555036397
NM_001197104.2(KMT2A):c.2214_2218dup (p.Val740fs) rs2134266780
NM_001197104.2(KMT2A):c.2318del (p.Pro773fs) rs782297546
NM_001197104.2(KMT2A):c.2608A>T (p.Lys870Ter)
NM_001197104.2(KMT2A):c.2982_2988del (p.Ser995fs) rs2134272841
NM_001197104.2(KMT2A):c.3190C>T (p.Arg1064Ter) rs1555037629
NM_001197104.2(KMT2A):c.3592C>T (p.Gln1198Ter) rs1591383060
NM_001197104.2(KMT2A):c.3634+1G>A rs2134293919
NM_001197104.2(KMT2A):c.3853C>T (p.Gln1285Ter) rs2134300616
NM_001197104.2(KMT2A):c.5572C>T (p.Arg1858Ter) rs2134357027
NM_001197104.2(KMT2A):c.6141_6142dup (p.Phe2048fs)
NM_001197104.2(KMT2A):c.6158+1del
NM_001197104.2(KMT2A):c.658_662del (p.Lys220fs) rs2134257719
NM_001197104.2(KMT2A):c.731T>G (p.Leu244Ter) rs2134258206
NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter) rs1950540436
NM_001197104.2(KMT2A):c.8455T>C (p.Ser2819Pro)
NM_001197104.2(KMT2A):c.8766A>C (p.Glu2922Asp) rs2134400611
NM_001197104.2(KMT2A):c.9035del (p.Cys3012fs) rs2134402509
NM_001270.4(CHD1):c.461C>T (p.Ser154Leu)
NM_001272071.2(AP1S2):c.21del (p.Phe7fs)
NM_001282531.3(ADNP):c.1137G>A (p.Gly379=)
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.2278G>T (p.Glu760Ter) rs1221864735
NM_001282531.3(ADNP):c.246C>T (p.Ser82=)
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.2815A>T (p.Ile939Phe)
NM_001282531.3(ADNP):c.2919G>T (p.Glu973Asp)
NM_001282531.3(ADNP):c.3017C>A (p.Ala1006Glu)
NM_001282531.3(ADNP):c.321del (p.Asn108fs) rs2122764752
NM_001282531.3(ADNP):c.443_446del (p.Lys148fs)
NM_001282531.3(ADNP):c.724G>A (p.Glu242Lys) rs1568710507
NM_001282531.3(ADNP):c.976C>G (p.His326Asp)
NM_001286577.2(C2CD3):c.1160C>G (p.Thr387Arg)
NM_001291415.2(KDM6A):c.2491C>T (p.Gln831Ter) rs2148047495
NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter) rs912069418
NM_001330311.2(DVL1):c.1594del (p.Trp532fs) rs797044835
NM_001347721.2(DYRK1A):c.1000_1001del (p.Asp334fs) rs2148619635
NM_001347721.2(DYRK1A):c.187C>T (p.Gln63Ter) rs373178770
NM_001347721.2(DYRK1A):c.201_204del (p.Asn68fs) rs1569355102
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001347721.2(DYRK1A):c.637+2dup rs2148601107
NM_001347721.2(DYRK1A):c.638-1G>T rs2148612254
NM_001347721.2(DYRK1A):c.675_676del (p.Cys226fs) rs1601267617
NM_001347721.2(DYRK1A):c.924+1G>A rs2148613196
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001354604.2(MITF):c.1274_1295dup (p.Ser432delinsArgThrArgSerTer) rs2107552061
NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter) rs2107478777
NM_001354604.2(MITF):c.899_900del (p.Glu300fs) rs2107519404
NM_001354604.2(MITF):c.955+1G>T rs2107519634
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001360.3(DHCR7):c.548G>A (p.Cys183Tyr) rs2135944619
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001365902.3(NFIX):c.1183del (p.His395fs) rs2145476207
NM_001365902.3(NFIX):c.247_270del (p.Ile83_Asp90del) rs2145192041
NM_001365902.3(NFIX):c.335G>T (p.Gly112Val) rs2145192509
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_001365999.1(SZT2):c.4817G>A (p.Arg1606Gln)
NM_001365999.1(SZT2):c.6623T>G (p.Val2208Gly) rs780228990
NM_001367561.1(DOCK7):c.2503A>G (p.Asn835Asp) rs747830413
NM_001367561.1(DOCK7):c.3132_3133del (p.Ile1045fs) rs2149393749
NM_001371623.1(TCOF1):c.1399del (p.Gln467fs) rs2150706662
NM_001371623.1(TCOF1):c.142del (p.Asp48fs)
NM_001371623.1(TCOF1):c.1602dup (p.Ser535fs)
NM_001371623.1(TCOF1):c.2112_2116del (p.Glu704fs)
NM_001371623.1(TCOF1):c.2257C>T (p.Gln753Ter) rs1490116413
NM_001371623.1(TCOF1):c.2388dup (p.Ala797fs)
NM_001371623.1(TCOF1):c.3099del (p.Ala1035fs)
NM_001371623.1(TCOF1):c.3385_3389dup (p.Pro1131fs)
NM_001371623.1(TCOF1):c.3388del (p.Leu1130fs)
NM_001371623.1(TCOF1):c.3631G>A (p.Gly1211Arg)
NM_001371623.1(TCOF1):c.3856C>T (p.Gln1286Ter) rs2151099050
NM_001371623.1(TCOF1):c.4027dup (p.Trp1343fs) rs2151101668
NM_001371623.1(TCOF1):c.41T>G (p.Ile14Ser)
NM_001371623.1(TCOF1):c.4243A>T (p.Lys1415Ter)
NM_001371623.1(TCOF1):c.4368dup (p.Glu1457fs) rs587776585
NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs)
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_001371623.1(TCOF1):c.551del (p.Ala184fs)
NM_001371623.1(TCOF1):c.583C>T (p.Gln195Ter)
NM_001372066.1(TFAP2A):c.486+1G>T
NM_001374353.1(GLI2):c.1108del (p.Ala370fs)
NM_001374828.1(ARID1B):c.1293_1311del (p.Gly434fs) rs943407609
NM_001374828.1(ARID1B):c.1560C>G (p.Tyr520Ter) rs2114999746
NM_001374828.1(ARID1B):c.1649_1659del (p.Gln550fs) rs1085307818
NM_001374828.1(ARID1B):c.1853dup (p.His619fs)
NM_001374828.1(ARID1B):c.2572C>T (p.Gln858Ter) rs1554298232
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) rs794727977
NM_001374828.1(ARID1B):c.3714+1G>A rs1554231278
NM_001374828.1(ARID1B):c.3721A>T (p.Lys1241Ter)
NM_001374828.1(ARID1B):c.3813C>G (p.Tyr1271Ter)
NM_001374828.1(ARID1B):c.3827_3828del (p.Glu1276fs) rs2128325428
NM_001374828.1(ARID1B):c.3933del (p.Leu1312fs)
NM_001374828.1(ARID1B):c.4638C>G (p.Tyr1546Ter)
NM_001374828.1(ARID1B):c.4647del (p.Tyr1550fs)
NM_001374828.1(ARID1B):c.4794C>G (p.Tyr1598Ter) rs1562345819
NM_001374828.1(ARID1B):c.4808del (p.Gly1603fs) rs2128374043
NM_001374828.1(ARID1B):c.5218C>T (p.Gln1740Ter) rs1554236027
NM_001374828.1(ARID1B):c.5395-1G>A
NM_001374828.1(ARID1B):c.5399del (p.Ser1800fs)
NM_001374828.1(ARID1B):c.5402del (p.Gly1801fs) rs2128391037
NM_001374828.1(ARID1B):c.5570A>G (p.Asp1857Gly)
NM_001374828.1(ARID1B):c.5615_5616dup (p.Glu1873fs) rs2128392250
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs) rs1583513256
NM_001374828.1(ARID1B):c.5719_5722del (p.Phe1907fs)
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs) rs1554237269
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001374828.1(ARID1B):c.5903del (p.Arg1968fs) rs2128393700
NM_001374828.1(ARID1B):c.5916dup (p.Ser1974fs) rs35441529
NM_001374828.1(ARID1B):c.6094del (p.Gln2032fs) rs2128394676
NM_001374828.1(ARID1B):c.6161dup (p.Cys2055fs)
NM_001374828.1(ARID1B):c.6619G>T (p.Glu2207Ter)
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter) rs1554238072
NM_001374828.1(ARID1B):c.6873dup (p.Met2292fs) rs2128398868
NM_001375380.1(EBF3):c.373G>A (p.Asp125Asn) rs2134649012
NM_001375380.1(EBF3):c.548_551del (p.Ile183fs) rs2134610480
NM_001375380.1(EBF3):c.589A>G (p.Asn197Asp) rs2134129845
NM_001375380.1(EBF3):c.833dup (p.Ala279fs) rs1589745620
NM_001378183.1(PIEZO2):c.8395C>T (p.Arg2799Cys) rs587777451
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450
NM_001379081.2(FREM1):c.4490T>C (p.Ile1497Thr)
NM_001379081.2(FREM1):c.92G>A (p.Gly31Glu)
NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val)
NM_001379200.1(TBX1):c.1342C>A (p.Pro448Thr)
NM_001379200.1(TBX1):c.170_229del (p.Pro57_Pro76del)
NM_001379403.1(WDR26):c.1446G>A (p.Trp482Ter)
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.1709_1710del (p.Gln570fs)
NM_001429.4(EP300):c.1861G>A (p.Glu621Lys) rs778829658
NM_001429.4(EP300):c.2132-1G>A rs2145734002
NM_001429.4(EP300):c.2461_2470del (p.Gln821fs)
NM_001429.4(EP300):c.2998-3_2998-2del rs2145740556
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met) rs143660871
NM_001429.4(EP300):c.3671+1G>A rs2059103511
NM_001429.4(EP300):c.3826_3827dup (p.Leu1276fs) rs2145759333
NM_001429.4(EP300):c.3872A>C (p.Lys1291Thr)
NM_001429.4(EP300):c.4340T>G (p.Ile1447Ser) rs2145766562
NM_001429.4(EP300):c.4756G>T (p.Ala1586Ser) rs1480723806
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.5486G>C (p.Arg1829Pro) rs2145516079
NM_001429.4(EP300):c.5493G>C (p.Arg1831Ser) rs1379274045
NM_001453.3(FOXC1):c.174del (p.Gly59fs) rs2113111101
NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter) rs121909339
NM_001453.3(FOXC1):c.4C>T (p.Gln2Ter) rs867581817
NM_001519.4(BRF1):c.1204G>A (p.Gly402Ser)
NM_001614.5(ACTG1):c.1004G>A (p.Arg335His) rs1555666392
NM_001614.5(ACTG1):c.629G>A (p.Arg210His) rs1555666709
NM_001854.4(COL11A1):c.2344_2352del (p.Glu782_Gly784del) rs2101750401
NM_001854.4(COL11A1):c.4591G>C (p.Gly1531Arg)
NM_001904.4(CTNNB1):c.1082-1G>C rs2125637461
NM_001904.4(CTNNB1):c.1178dup (p.Thr393_Lys394insTer) rs2125638080
NM_001904.4(CTNNB1):c.1186-3T>G rs1212452748
NM_001904.4(CTNNB1):c.1287C>A (p.Cys429Ter) rs2078362215
NM_001904.4(CTNNB1):c.1309_1316del (p.Met437fs)
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_001904.4(CTNNB1):c.1524+2T>A rs878960699
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter) rs397514554
NM_001904.4(CTNNB1):c.163G>T (p.Glu55Ter) rs2125617859
NM_001904.4(CTNNB1):c.1982G>C (p.Arg661Pro) rs2125647004
NM_001904.4(CTNNB1):c.2008dup (p.Tyr670fs) rs2125647138
NM_001904.4(CTNNB1):c.923del (p.Asn308fs)
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter) rs886041281
NM_002397.5(MEF2C):c.258+5G>C rs2153073717
NM_002397.5(MEF2C):c.402+146C>A rs1358670337
NM_002397.5(MEF2C):c.835-2A>G
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.449A>G (p.Gln150Arg) rs2101738598
NM_002641.4(PIGA):c.986T>C (p.Val329Ala) rs1921924356
NM_002655.3(PLAG1):c.441_489del (p.Ser147fs) rs2129224609
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002755.4(MAP2K1):c.767T>C (p.Met256Thr)
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn) rs121918460
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.217A>C (p.Thr73Pro) rs397507513
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.1871C>G (p.Ser624Cys) rs1057524239
NM_002880.4(RAF1):c.478C>T (p.Leu160Phe)
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002894.3(RBBP8):c.1223_1228del (p.Ile408_Asn409del) rs757747543
NM_002894.3(RBBP8):c.2287+1G>A rs2045952037
NM_002968.3(SALL1):c.1228G>T (p.Gly410Ter)
NM_002968.3(SALL1):c.3381del (p.Arg1128fs) rs2143436744
NM_003070.5(SMARCA2):c.221A>G (p.His74Arg)
NM_003070.5(SMARCA2):c.2508C>A (p.Asp836Glu) rs2130475008
NM_003070.5(SMARCA2):c.2831C>A (p.Pro944Gln)
NM_003070.5(SMARCA2):c.3026T>C (p.Ile1009Thr)
NM_003070.5(SMARCA2):c.3479C>G (p.Ala1160Gly) rs2130599529
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys) rs1057518414
NM_003070.5(SMARCA2):c.3887G>A (p.Cys1296Tyr)
NM_003072.5(SMARCA4):c.1352G>T (p.Arg451Leu)
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg) rs1060499936
NM_003072.5(SMARCA4):c.2933G>A (p.Arg978Gln) rs1180804356
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_003073.5(SMARCB1):c.1070C>G (p.Thr357Arg) rs1555881567
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu) rs797045989
NM_003106.4(SOX2):c.70_89del (p.Asn24fs) rs398123693
NM_003107.3(SOX4):c.173A>C (p.His58Pro) rs2113557050
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
NM_003108.4(SOX11):c.886G>T (p.Glu296Ter) rs1441654871
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003221.4(TFAP2B):c.805G>A (p.Gly269Ser)
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp) rs137853305
NM_003403.5(YY1):c.1106A>G (p.Asn369Ser) rs2139605753
NM_003482.4(KMT2D):c.10021C>T (p.Gln3341Ter)
NM_003482.4(KMT2D):c.10109del (p.Gln3370fs) rs2120476270
NM_003482.4(KMT2D):c.10151_10171dup (p.Thr3384_Cys3390dup) rs2120475317
NM_003482.4(KMT2D):c.10624_10625del (p.Leu3542fs) rs1592123162
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp) rs1943085639
NM_003482.4(KMT2D):c.11263C>T (p.Gln3755Ter) rs587783681
NM_003482.4(KMT2D):c.11731C>T (p.Gln3911Ter) rs2120437427
NM_003482.4(KMT2D):c.12291del (p.Pro4098fs) rs2120431099
NM_003482.4(KMT2D):c.12902_12903insA (p.Leu4302fs) rs2120424870
NM_003482.4(KMT2D):c.137C>G (p.Ser46Cys) rs2120715696
NM_003482.4(KMT2D):c.14075G>T (p.Arg4692Met) rs1942774184
NM_003482.4(KMT2D):c.14382+1G>A rs1555186428
NM_003482.4(KMT2D):c.14502dup (p.Ala4835fs) rs2120378003
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.4(KMT2D):c.15104G>A (p.Cys5035Tyr) rs398123723
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003482.4(KMT2D):c.15673C>T (p.Arg5225Cys) rs1942584412
NM_003482.4(KMT2D):c.16469_16470del (p.Lys5490fs) rs1555184624
NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003482.4(KMT2D):c.177-2A>G rs2120713788
NM_003482.4(KMT2D):c.1967del (p.Leu656fs) rs772870804
NM_003482.4(KMT2D):c.3326_3336del (p.Ala1109fs) rs1565813691
NM_003482.4(KMT2D):c.4379C>A (p.Pro1460Gln)
NM_003482.4(KMT2D):c.4419-2A>C
NM_003482.4(KMT2D):c.4987G>T (p.Glu1663Ter) rs192216625
NM_003482.4(KMT2D):c.5060G>A (p.Arg1687His) rs1183756465
NM_003482.4(KMT2D):c.6323dup (p.Gln2109fs) rs2120547138
NM_003482.4(KMT2D):c.6805_6811del (p.Ser2269fs)
NM_003482.4(KMT2D):c.7407_7408insT (p.Pro2470fs) rs2120527860
NM_003483.6(HMGA2):c.111+6T>A
NM_003483.6(HMGA2):c.44_48del (p.Ala15fs)
NM_003620.4(PPM1D):c.1221_1222insTC (p.Val408fs) rs2143719799
NM_003620.4(PPM1D):c.1249_1250insA (p.Pro417fs)
NM_003737.4(DCHS1):c.1282C>T (p.Arg428Trp)
NM_003737.4(DCHS1):c.6189G>C (p.Glu2063Asp)
NM_003737.4(DCHS1):c.6233G>A (p.Arg2078His) rs144463486
NM_003922.4(HERC1):c.10925T>C (p.Met3642Thr)
NM_003922.4(HERC1):c.11407G>A (p.Val3803Ile) rs1025829736
NM_003922.4(HERC1):c.3953C>G (p.Thr1318Arg)
NM_003922.4(HERC1):c.4643T>C (p.Met1548Thr)
NM_004187.5(KDM5C):c.1586G>C (p.Gly529Ala) rs2146914851
NM_004187.5(KDM5C):c.1602G>C (p.Trp534Cys) rs2146914735
NM_004247.4(EFTUD2):c.2023_2026dup (p.Ala676fs)
NM_004247.4(EFTUD2):c.2166C>A (p.Tyr722Ter) rs1240441464
NM_004247.4(EFTUD2):c.870-1G>T rs2145503914
NM_004278.4(PIGL):c.154_161del (p.Asp52fs) rs2142610073
NM_004278.4(PIGL):c.262C>G (p.Arg88Gly) rs1064795400
NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala) rs121913348
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu) rs397516892
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.6(BRAF):c.1502A>T (p.Glu501Val) rs180177039
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg) rs121913375
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter) rs587783464
NM_004380.3(CREBBP):c.2113+1G>C
NM_004380.3(CREBBP):c.3369+1del rs2151385509
NM_004380.3(CREBBP):c.3370-2A>G rs866703165
NM_004380.3(CREBBP):c.3418del (p.Arg1140fs) rs2151383848
NM_004380.3(CREBBP):c.3907C>T (p.Pro1303Ser) rs2151355349
NM_004380.3(CREBBP):c.3983-1G>C rs2151341377
NM_004380.3(CREBBP):c.4013T>G (p.Leu1338Trp) rs2151341032
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly) rs886041286
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del) rs1555471931
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter) rs886041518
NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter) rs2051825168
NM_004423.4(DVL3):c.466A>T (p.Thr156Ser)
NM_004456.5(EZH2):c.2050C>T (p.Arg684Cys) rs587783626
NM_004456.5(EZH2):c.386A>G (p.His129Arg) rs2129477011
NM_004525.3(LRP2):c.8244T>A (p.Cys2748Ter) rs2105326044
NM_004629.2(FANCG):c.552dup (p.Ser185fs) rs1412207017
NM_004793.4(LONP1):c.1896+3G>T rs371793819
NM_004793.4(LONP1):c.1924A>G (p.Thr642Ala) rs766977148
NM_004958.4(MTOR):c.1052C>T (p.Pro351Leu)
NM_004958.4(MTOR):c.3945-26_4016dup
NM_004958.4(MTOR):c.4883G>A (p.Arg1628His) rs777925640
NM_004958.4(MTOR):c.5912C>T (p.Ala1971Val) rs2100414567
NM_004958.4(MTOR):c.7105G>C (p.Glu2369Gln)
NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) rs104894366
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_004985.5(KRAS):c.76A>C (p.Asn26His) rs794727277
NM_005120.3(MED12):c.3646G>A (p.Val1216Met) rs2147805923
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005199.5(CHRNG):c.240+1del rs777809198
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005360.5(MAF):c.185C>T (p.Thr62Met) rs727502771
NM_005445.4(SMC3):c.1417T>G (p.Trp473Gly) rs1861180567
NM_005445.4(SMC3):c.1942A>G (p.Met648Val) rs886041239
NM_005445.4(SMC3):c.2018A>G (p.Lys673Arg)
NM_005445.4(SMC3):c.2513A>C (p.Lys838Thr) rs2134750930
NM_005573.4(LMNB1):c.814-1G>T
NM_005592.4(MUSK):c.1185-24T>A
NM_005629.4(SLC6A8):c.1864G>C (p.Val622Leu) rs1160275875
NM_005633.4(SOS1):c.1289A>G (p.Asp430Gly) rs2124537699
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.2117G>A (p.Arg706Lys) rs2124517554
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005633.4(SOS1):c.805A>G (p.Met269Val)
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.4(SOS1):c.925G>A (p.Asp309Asn) rs397517180
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005862.3(STAG1):c.1600C>T (p.Arg534Cys)
NM_005982.4(SIX1):c.397_399del (p.Glu133del) rs80356460
NM_005996.4(TBX3):c.1170dup (p.Ala391fs)
NM_006015.6(ARID1A):c.5903_5904del (p.Cys1968fs)
NM_006015.6(ARID1A):c.595C>T (p.Gln199Ter) rs2124742621
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg) rs869320691
NM_006245.4(PPP2R5D):c.621G>C (p.Trp207Cys) rs2150278805
NM_006245.4(PPP2R5D):c.751G>A (p.Asp251Asn) rs1762178916
NM_006268.5(DPF2):c.1045G>C (p.Asp349His) rs373186765
NM_006306.4(SMC1A):c.109+575dup rs2075758478
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His) rs122454123
NM_006306.4(SMC1A):c.1756C>T (p.Arg586Trp) rs2146599836
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter) rs2075652085
NM_006364.4(SEC23A):c.1795G>A (p.Glu599Lys) rs2139193533
NM_006565.4(CTCF):c.2139C>A (p.Asn713Lys) rs146712579
NM_006565.4(CTCF):c.867_868dup (p.Asp290fs)
NM_006623.4(PHGDH):c.1210G>A (p.Val404Ile)
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter) rs1555465891
NM_006662.3(SRCAP):c.7236_7237del (p.Pro2413fs)
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter) rs587784444
NM_006766.5(KAT6A):c.1312C>T (p.Arg438Ter) rs2150886359
NM_006766.5(KAT6A):c.4297C>T (p.Gln1433Ter)
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_006766.5(KAT6A):c.5123del (p.Asn1708fs) rs2150855326
NM_006766.5(KAT6A):c.5383G>A (p.Ala1795Thr)
NM_006766.5(KAT6A):c.5884G>A (p.Ala1962Thr)
NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr)
NM_006767.4(LZTR1):c.2501_2502del (p.Ala834fs) rs2147971083
NM_006908.5(RAC1):c.191A>G (p.Tyr64Cys) rs2115201389
NM_006912.6(RIT1):c.116T>C (p.Met39Thr) rs2102590945
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.229G>T (p.Ala77Ser) rs869025191
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.578T>C (p.Met193Thr)
NM_006941.4(SOX10):c.356_357del (p.Arg119fs)
NM_006941.4(SOX10):c.520C>T (p.Gln174Ter) rs2145768481
NM_006941.4(SOX10):c.610C>T (p.Gln204Ter) rs2145768136
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_007118.4(TRIO):c.4751A>T (p.Lys1584Met) rs2152380313
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs) rs752676391
NM_007129.5(ZIC2):c.800G>A (p.Ser267Asn)
NM_007129.5(ZIC2):c.856C>T (p.His286Tyr) rs2152162715
NM_007363.5(NONO):c.315_318del (p.His106fs) rs2148033533
NM_012233.3(RAB3GAP1):c.1174C>T (p.Arg392Ter)
NM_012233.3(RAB3GAP1):c.1440_1441del (p.Trp481fs)
NM_012250.6(RRAS2):c.67G>A (p.Gly23Ser)
NM_012330.4(KAT6B):c.130A>T (p.Lys44Ter)
NM_012330.4(KAT6B):c.2963C>A (p.Thr988Asn)
NM_012330.4(KAT6B):c.3253del (p.Glu1085fs) rs1554843880
NM_012330.4(KAT6B):c.3594del (p.Lys1199fs)
NM_012330.4(KAT6B):c.3664+1G>A rs1057516033
NM_012330.4(KAT6B):c.3857del (p.Gln1286fs) rs2134234642
NM_012330.4(KAT6B):c.4096G>T (p.Glu1366Ter)
NM_013275.6(ANKRD11):c.1477_1478del (p.Arg493fs) rs1597464360
NM_013275.6(ANKRD11):c.1708_1711del (p.Thr571fs) rs2151763094
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.226+1G>A rs2151869895
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter) rs1597461100
NM_013275.6(ANKRD11):c.2454dup (p.Asn819Ter) rs1597460545
NM_013275.6(ANKRD11):c.2647del (p.Glu883fs) rs2151758908
NM_013275.6(ANKRD11):c.291del (p.Phe98fs)
NM_013275.6(ANKRD11):c.3547_3548del (p.Asp1183fs)
NM_013275.6(ANKRD11):c.3783C>G (p.Asp1261Glu)
NM_013275.6(ANKRD11):c.397+1G>A rs2151797766
NM_013275.6(ANKRD11):c.5606C>G (p.Pro1869Arg)
NM_013275.6(ANKRD11):c.601+11_601+37del
NM_013275.6(ANKRD11):c.6513del (p.Val2173fs) rs1555525603
NM_013275.6(ANKRD11):c.6559C>G (p.Pro2187Ala)
NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.6836_6837del (p.Val2279fs) rs1555525296
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp) rs2033536147
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp) rs2151701893
NM_013275.6(ANKRD11):c.7822C>T (p.Arg2608Trp) rs1597389370
NM_014141.6(CNTNAP2):c.1361_1362del (p.Asn454fs) rs1794916576
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter) rs766777011
NM_014141.6(CNTNAP2):c.551G>A (p.Trp184Ter) rs2129279519
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His) rs863225094
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014423.4(AFF4):c.773G>A (p.Arg258Gln) rs2150098310
NM_014780.5(CUL7):c.2150_2151insA (p.Asn719fs)
NM_014780.5(CUL7):c.2761_2765del (p.Asn921fs)
NM_014780.5(CUL7):c.2862+1G>A
NM_014780.5(CUL7):c.3046G>A (p.Gly1016Ser)
NM_014780.5(CUL7):c.3847T>C (p.Trp1283Arg)
NM_014780.5(CUL7):c.4297C>T (p.Gln1433Ter) rs377169342
NM_014795.4(ZEB2):c.1052del (p.Gly351fs) rs2149877492
NM_014795.4(ZEB2):c.1170del (p.Thr392fs) rs2149877432
NM_014795.4(ZEB2):c.1209del (p.Met404fs) rs2149877416
NM_014795.4(ZEB2):c.2056G>T (p.Glu686Ter) rs2149876873
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2273_2274del (p.Leu758fs)
NM_014795.4(ZEB2):c.2384del (p.Asn795fs) rs2149876640
NM_014795.4(ZEB2):c.2890G>T (p.Glu964Ter)
NM_014795.4(ZEB2):c.310C>T (p.Gln104Ter) rs753880265
NM_014795.4(ZEB2):c.3227dup (p.His1076fs)
NM_014795.4(ZEB2):c.3353C>T (p.Pro1118Leu) rs780004720
NM_014795.4(ZEB2):c.73+1G>A rs2149935109
NM_014795.4(ZEB2):c.769G>T (p.Glu257Ter) rs1703347173
NM_014846.4(WASHC5):c.2836G>A (p.Glu946Lys)
NM_015100.4(POGZ):c.1522C>T (p.Arg508Ter) rs1557901051
NM_015100.4(POGZ):c.2646_2647del (p.Asn882fs) rs1553213060
NM_015100.4(POGZ):c.2709del (p.Pro903_Leu904insTer)
NM_015100.4(POGZ):c.2729C>G (p.Ser910Ter)
NM_015100.4(POGZ):c.3046del (p.Glu1016fs)
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015311.3(OBSL1):c.1068_1075dup (p.Val359fs) rs2106102918
NM_015311.3(OBSL1):c.1260dup (p.Val421fs)
NM_015311.3(OBSL1):c.2292_2320dup (p.Ile774delinsArgArgTrpMetGlyAlaAsnThrValTer)
NM_015311.3(OBSL1):c.35dup (p.Cys13fs) rs752401295
NM_015311.3(OBSL1):c.3883G>A (p.Gly1295Arg) rs530576939
NM_015311.3(OBSL1):c.458dup (p.Leu154fs) rs767237510
NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp)
NM_015335.5(MED13L):c.1218dup (p.Ser407Ter) rs2137404791
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs) rs869025286
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.5(MED13L):c.2239-11T>G rs2137373566
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.5(MED13L):c.3346_3347dup (p.Asp1117fs) rs2137306954
NM_015335.5(MED13L):c.3380del (p.Asn1127fs) rs2137306817
NM_015335.5(MED13L):c.3932A>G (p.Asn1311Ser)
NM_015335.5(MED13L):c.395+1G>A rs1874072309
NM_015335.5(MED13L):c.4953G>T (p.Glu1651Asp)
NM_015335.5(MED13L):c.5244_5248dup (p.Met1750fs) rs2137264830
NM_015335.5(MED13L):c.5978G>A (p.Cys1993Tyr) rs2137223521
NM_015335.5(MED13L):c.889_890del (p.Ser297fs)
NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs) rs777537805
NM_015338.6(ASXL1):c.3677_3678del (p.Leu1226fs)
NM_015443.4(KANSL1):c.1347G>A (p.Trp449Ter) rs2146947345
NM_015443.4(KANSL1):c.1412_1413del (p.Lys471fs) rs2146946828
NM_015443.4(KANSL1):c.2542-1G>A rs111514883
NM_015443.4(KANSL1):c.3011del (p.Pro1004fs) rs2146306274
NM_015559.3(SETBP1):c.1955_1956dup (p.Gly653fs)
NM_015559.3(SETBP1):c.2322A>G (p.Ala774=) rs2145104146
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_015570.4(AUTS2):c.1527C>A (p.Asp509Glu)
NM_015570.4(AUTS2):c.2531+1_2531+10del
NM_015570.4(AUTS2):c.454C>T (p.Arg152Ter)
NM_015634.4(KIFBP):c.1645C>T (p.Arg549Ter) rs906050638
NM_015922.3(NSDHL):c.796C>T (p.His266Tyr)
NM_015972.4(POLR1D):c.60dup (p.Gly21fs)
NM_015972.4(POLR1D):c.89_117del (p.Val30fs)
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs) rs748735420
NM_016343.4(CENPF):c.6214T>C (p.Ser2072Pro)
NM_016628.5(WAC):c.1444A>G (p.Thr482Ala)
NM_016628.5(WAC):c.1648C>T (p.Arg550Ter) rs1554791943
NM_016628.5(WAC):c.438del (p.Tyr147fs) rs2132669171
NM_016628.5(WAC):c.610+2T>G
NM_016628.5(WAC):c.670_673del (p.Thr224fs) rs1589219377
NM_017780.4(CHD7):c.1061del (p.Pro354fs) rs1554581501
NM_017780.4(CHD7):c.1603C>T (p.Gln535Ter) rs751709941
NM_017780.4(CHD7):c.1867G>T (p.Gly623Trp)
NM_017780.4(CHD7):c.2442+1G>A rs1085307582
NM_017780.4(CHD7):c.2498+3A>G rs2150723994
NM_017780.4(CHD7):c.2499-11T>A rs2150738863
NM_017780.4(CHD7):c.282del (p.Asn96fs) rs1563559321
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.4783C>T (p.Gln1595Ter)
NM_017780.4(CHD7):c.4995G>A (p.Trp1665Ter)
NM_017780.4(CHD7):c.5051-1G>A rs1586432203
NM_017780.4(CHD7):c.5101C>T (p.Gln1701Ter)
NM_017780.4(CHD7):c.5210+1G>A rs2150794309
NM_017780.4(CHD7):c.5210+5G>C
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter) rs1554603552
NM_017780.4(CHD7):c.5738T>C (p.Leu1913Pro) rs2150807679
NM_017780.4(CHD7):c.5955del (p.Phe1985fs)
NM_017780.4(CHD7):c.6208dup (p.His2070fs)
NM_017780.4(CHD7):c.6461C>T (p.Pro2154Leu) rs1805544418
NM_017780.4(CHD7):c.6830G>A (p.Ser2277Asn)
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter) rs587783454
NM_017780.4(CHD7):c.7164+1G>A rs2129644267
NM_017780.4(CHD7):c.7184C>G (p.Ser2395Cys)
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_017780.4(CHD7):c.8191G>A (p.Ala2731Thr)
NM_017780.4(CHD7):c.934C>T (p.Arg312Ter) rs886041166
NM_017934.7(PHIP):c.1186C>T (p.Arg396Ter) rs2127741566
NM_017934.7(PHIP):c.3193C>T (p.Arg1065Ter) rs1767406859
NM_017934.7(PHIP):c.40+1G>A rs2127785060
NM_017934.7(PHIP):c.746T>A (p.Ile249Asn) rs2127748441
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018062.4(FANCL):c.1_22dup (p.Leu8fs)
NM_018486.3(HDAC8):c.111+6G>A
NM_018486.3(HDAC8):c.134T>C (p.Ile45Thr) rs2147614771
NM_018486.3(HDAC8):c.551del (p.Gly184fs) rs2148131678
NM_018486.3(HDAC8):c.881G>A (p.Trp294Ter) rs2148045934
NM_019014.6(POLR1B):c.1496C>T (p.Pro499Leu)
NM_019014.6(POLR1B):c.2055C>A (p.Asn685Lys)
NM_019066.5(MAGEL2):c.1656del (p.Ala553fs)
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.2057G>A (p.Trp686Ter) rs768844200
NM_019066.5(MAGEL2):c.2216del (p.Ser738_Ser739insTer) rs2140714112
NM_020699.4(GATAD2B):c.777_778del (p.Met259fs) rs2101880773
NM_020699.4(GATAD2B):c.980_981del (p.Gly327fs) rs797045594
NM_021224.6(ZNF462):c.1351C>T (p.Arg451Ter) rs2131454461
NM_022455.5(NSD1):c.1291T>C (p.Tyr431His) rs1763178149
NM_022455.5(NSD1):c.1727dup (p.Asn576fs) rs1299932363
NM_022455.5(NSD1):c.3004_3007del (p.Lys1002fs) rs2149846876
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter) rs587784095
NM_022455.5(NSD1):c.3340G>T (p.Val1114Phe)
NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter) rs1581491984
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.5726_5727del (p.Asp1908_Ser1909insTer) rs2127257129
NM_022455.5(NSD1):c.5741G>A (p.Arg1914His) rs587784155
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys) rs2127263139
NM_022552.5(DNMT3A):c.2479-1G>A
NM_023110.3(FGFR1):c.1550A>C (p.Lys517Thr)
NM_023110.3(FGFR1):c.1865G>A (p.Arg622Gln) rs1815818452
NM_024408.4(NOTCH2):c.6496T>C (p.Ser2166Pro) rs886042848
NM_024665.7(TBL1XR1):c.1270G>A (p.Val424Ile) rs753008616
NM_024665.7(TBL1XR1):c.172_173del (p.Gln58fs) rs2108503904
NM_024757.5(EHMT1):c.1588C>T (p.Arg530Ter) rs1554871138
NM_024757.5(EHMT1):c.2704C>T (p.Arg902Ter) rs886041844
NM_024757.5(EHMT1):c.2877_2880del (p.Ser960fs) rs786205129
NM_024757.5(EHMT1):c.3072_3073del (p.Val1026fs) rs1085307734
NM_025074.7(FRAS1):c.2376del (p.Ser793fs)
NM_025074.7(FRAS1):c.3152-2A>G
NM_030632.3(ASXL3):c.1243G>T (p.Glu415Ter)
NM_030632.3(ASXL3):c.1269C>A (p.Cys423Ter) rs2145411718
NM_030632.3(ASXL3):c.1402G>T (p.Glu468Ter) rs2145412175
NM_030632.3(ASXL3):c.1864dup (p.Cys622fs) rs2145413895
NM_030632.3(ASXL3):c.4403C>G (p.Ser1468Ter) rs2145428243
NM_030632.3(ASXL3):c.4624del (p.Ala1542fs)
NM_030632.3(ASXL3):c.4899T>A (p.Tyr1633Ter) rs1004855056
NM_030632.3(ASXL3):c.6684_6687dup (p.Cys2230fs)
NM_030653.4(DDX11):c.1630G>C (p.Ala544Pro)
NM_030662.4(MAP2K2):c.1198G>T (p.Val400Leu)
NM_030662.4(MAP2K2):c.167C>A (p.Ala56Asp)
NM_030662.4(MAP2K2):c.183A>C (p.Lys61Asn) rs886041310
NM_030665.4(RAI1):c.116G>T (p.Ser39Ile) rs2143001466
NM_030665.4(RAI1):c.1677del (p.Ser560fs)
NM_030665.4(RAI1):c.269del (p.Gly90fs)
NM_030665.4(RAI1):c.545C>T (p.Pro182Leu) rs1260037619
NM_030957.4(ADAMTS10):c.2421G>T (p.Glu807Asp) rs545953920
NM_030957.4(ADAMTS10):c.373G>A (p.Ala125Thr) rs782138140
NM_031263.4(HNRNPK):c.1191+3A>T
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_031263.4(HNRNPK):c.517-7_521del
NM_032208.3(ANTXR1):c.561+6G>A
NM_052867.4(NALCN):c.4447-2del
NM_052867.4(NALCN):c.454C>T (p.Arg152Ter) rs774096141
NM_052867.4(NALCN):c.537del (p.Ile178_Trp179insTer) rs1594759803
NM_078480.3(PUF60):c.612_630del (p.Asn207fs) rs1816565452
NM_130466.4(UBE3B):c.1956+1G>A rs1304422857
NM_130466.4(UBE3B):c.2172dup (p.Ile725fs) rs765785230
NM_130466.4(UBE3B):c.2569-1G>C
NM_130466.4(UBE3B):c.739_742del (p.Asp247fs)
NM_133433.4(NIPBL):c.10dup (p.Asp4fs) rs2149597479
NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln) rs1017711925
NM_133433.4(NIPBL):c.2078C>G (p.Ser693Ter)
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys) rs121918264
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter) rs2149668942
NM_133433.4(NIPBL):c.5272C>T (p.Arg1758Ter)
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5427G>A (p.Arg1809=)
NM_133433.4(NIPBL):c.5982del (p.Asn1994fs) rs2149721379
NM_133433.4(NIPBL):c.654_657del (p.Ile218fs) rs2149619973
NM_133433.4(NIPBL):c.7825G>T (p.Glu2609Ter) rs2149755613
NM_133433.4(NIPBL):c.8390_8396del (p.Ala2797fs) rs2149761324
NM_133433.4(NIPBL):c.869-1G>C
NM_138927.4(SON):c.1188del (p.Pro398fs)
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_138927.4(SON):c.4012_4013insCAGAA (p.Val1338fs) rs2145831490
NM_138927.4(SON):c.4378_4381del (p.Val1460fs) rs2145833294
NM_139057.4(ADAMTS17):c.1996T>G (p.Cys666Gly) rs2141096474
NM_139057.4(ADAMTS17):c.22C>T (p.Pro8Ser) rs770794109
NM_139057.4(ADAMTS17):c.2796+5G>A rs2141345957
NM_139057.4(ADAMTS17):c.662_665del (p.Glu221fs) rs2142079953
NM_139125.4(MASP1):c.1708A>G (p.Met570Val)
NM_152515.5(CKAP2L):c.1004_1029dup (p.Tyr344fs)
NM_152515.5(CKAP2L):c.1186A>G (p.Ile396Val)
NM_152564.5(VPS13B):c.1651G>A (p.Gly551Ser) rs1346704740
NM_152564.5(VPS13B):c.2905C>T (p.Gln969Ter) rs2133295344
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.8626G>T (p.Glu2876Ter) rs747644844
NM_170606.3(KMT2C):c.10054C>G (p.Gln3352Glu) rs2092568887
NM_170606.3(KMT2C):c.11269_11270del (p.Gln3757fs)
NM_170606.3(KMT2C):c.11812+2T>C rs2129099779
NM_170606.3(KMT2C):c.596G>A (p.Arg199Gln)
NM_170606.3(KMT2C):c.6302C>T (p.Pro2101Leu) rs2093435062
NM_170606.3(KMT2C):c.6769C>T (p.Arg2257Ter)
NM_170606.3(KMT2C):c.6925C>T (p.Gln2309Ter) rs2129119384
NM_170606.3(KMT2C):c.8252C>T (p.Ser2751Leu)
NM_173660.5(DOK7):c.1327C>T (p.Pro443Ser) rs748946433
NM_178012.5(TUBB2B):c.178G>A (p.Val60Ile) rs2113819578
NM_178012.5(TUBB2B):c.683T>C (p.Leu228Pro) rs137853195
NM_178148.4(SLC35B2):c.896C>T (p.Ser299Leu)
NM_181458.4(PAX3):c.768del (p.Lys257fs) rs2106095025
NM_181486.4(TBX5):c.261C>G (p.Tyr87Ter)
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter) rs863223788
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181523.3(PIK3R1):c.502+1G>T rs773461483
NM_182895.5(SCARF2):c.1104C>A (p.Tyr368Ter) rs921038430
NM_183381.3(RNF13):c.929del (p.Pro310fs)
NM_207361.6(FREM2):c.2129G>A (p.Arg710His)
NM_207361.6(FREM2):c.2216G>A (p.Arg739His)
NM_207361.6(FREM2):c.3151C>T (p.Gln1051Ter) rs376122266
NM_207361.6(FREM2):c.437C>G (p.Pro146Arg)
NM_207361.6(FREM2):c.5677G>A (p.Val1893Ile) rs548177107
NM_207361.6(FREM2):c.6614A>G (p.Asp2205Gly)

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