ClinVar Miner

List of variants studied for developmental defect during embryogenesis by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 652
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628 0.34645
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_000393.5(COL5A2):c.370-16C>T rs148220961 0.00748
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_000393.5(COL5A2):c.2554-14A>G rs142429770 0.00703
NM_001042492.3(NF1):c.3496+19T>C rs9890283 0.00673
NM_000090.4(COL3A1):c.1816-19T>C rs114299724 0.00647
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001042492.3(NF1):c.3198-4T>C rs587782218 0.00387
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352 0.00287
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971 0.00284
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995 0.00240
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661 0.00223
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_003482.4(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516 0.00216
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00206
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00204
NM_003482.4(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944 0.00200
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742 0.00153
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285 0.00137
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524 0.00127
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833 0.00124
NM_003482.4(KMT2D):c.4401C>T (p.Gly1467=) rs192659833 0.00108
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln) rs138405802 0.00087
NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu) rs201581582 0.00061
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00053
NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196 0.00051
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022 0.00033
NM_001042492.3(NF1):c.6922-16A>G rs202158964 0.00030
NM_000093.5(COL5A1):c.2331+16G>A rs199654385 0.00028
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206 0.00026
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_006941.4(SOX10):c.211T>G (p.Cys71Gly) rs200683397 0.00021
NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys) rs200192746 0.00019
NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg) rs187751757 0.00019
NM_002880.4(RAF1):c.119G>A (p.Arg40His) rs192632236 0.00016
NM_003482.4(KMT2D):c.8579G>A (p.Arg2860His) rs377747403 0.00016
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471 0.00016
NM_001042492.3(NF1):c.1599C>G (p.Val533=) rs369458366 0.00013
NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483 0.00010
NM_003482.4(KMT2D):c.6643T>A (p.Ser2215Thr) rs200080744 0.00009
NM_003482.4(KMT2D):c.7366C>T (p.Arg2456Cys) rs754060706 0.00009
NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met) rs747298351 0.00009
NM_022455.5(NSD1):c.6259-8A>T rs370529039 0.00008
NM_003482.4(KMT2D):c.5645-3C>T rs544332856 0.00007
NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile) rs201514840 0.00007
NM_000090.4(COL3A1):c.1150-13T>C rs201839712 0.00006
NM_003482.4(KMT2D):c.13531-10T>C rs769029919 0.00006
NM_003482.4(KMT2D):c.1939C>A (p.Pro647Thr) rs200106242 0.00006
NM_003482.4(KMT2D):c.7136C>T (p.Ala2379Val) rs200842315 0.00005
NM_003482.4(KMT2D):c.10522C>T (p.Arg3508Trp) rs777638253 0.00004
NM_003482.4(KMT2D):c.15499A>G (p.Ser5167Gly) rs752976776 0.00004
NM_003482.4(KMT2D):c.5752C>T (p.Arg1918Cys) rs747722455 0.00004
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663 0.00003
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) rs104894387 0.00003
NM_003482.4(KMT2D):c.8137G>A (p.Ala2713Thr) rs748969707 0.00003
NM_022455.5(NSD1):c.7531G>C (p.Asp2511His) rs575229932 0.00003
NM_001042492.3(NF1):c.2294G>A (p.Arg765His) rs199474777 0.00002
NM_001122659.3(EDNRB):c.973G>A (p.Val325Ile) rs201437745 0.00002
NM_001291415.2(KDM6A):c.2899T>C (p.Leu967=) rs374328447 0.00002
NM_003482.4(KMT2D):c.6608C>T (p.Thr2203Met) rs770692765 0.00002
NM_003482.4(KMT2D):c.8405C>T (p.Ala2802Val) rs1239905273 0.00002
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470 0.00002
NM_000090.4(COL3A1):c.1609-17T>G rs1468376126 0.00001
NM_000093.5(COL5A1):c.492-3C>T rs1027866868 0.00001
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter) rs745554420 0.00001
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541A>C (p.Gln514Pro) rs775369084 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.200A>G (p.Asn67Ser) rs375038808 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val) rs587781553 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala) rs747584987 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn) rs771597781 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter) rs1193716348 0.00001
NM_001042492.3(NF1):c.6704+1G>T rs1060500376 0.00001
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter) rs772295894 0.00001
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile) rs755749772 0.00001
NM_001042492.3(NF1):c.7326A>G (p.Leu2442=) rs753224880 0.00001
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu) rs754511534 0.00001
NM_001354604.2(MITF):c.989G>A (p.Arg330His) rs763119975 0.00001
NM_001354604.2(MITF):c.997G>A (p.Glu333Lys) rs147682682 0.00001
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003482.4(KMT2D):c.10467G>T (p.Gln3489His) rs535351117 0.00001
NM_003482.4(KMT2D):c.11599C>A (p.Gln3867Lys) rs1200655258 0.00001
NM_003482.4(KMT2D):c.12566G>C (p.Gly4189Ala) rs532360713 0.00001
NM_003482.4(KMT2D):c.12634C>T (p.Arg4212Trp) rs760279999 0.00001
NM_003482.4(KMT2D):c.2209C>T (p.Arg737Trp) rs539274614 0.00001
NM_003482.4(KMT2D):c.2771C>T (p.Ser924Phe) rs768627183 0.00001
NM_003482.4(KMT2D):c.3982C>T (p.Arg1328Trp) rs754797404 0.00001
NM_003482.4(KMT2D):c.7589C>T (p.Thr2530Ile) rs773982820 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_003482.4(KMT2D):c.941C>G (p.Ser314Cys) rs1043654062 0.00001
NM_017780.4(CHD7):c.323C>A (p.Pro108His) rs369818702 0.00001
NM_022455.5(NSD1):c.4966+15T>C rs587784130 0.00001
NM_152594.3(SPRED1):c.304dup (p.Thr102fs) rs1555391053 0.00001
NM_181458.4(PAX3):c.808C>T (p.Arg270Cys) rs1228590199 0.00001
NM_000090.4(COL3A1):c.1744G>T (p.Gly582Cys) rs121912923
NM_000090.4(COL3A1):c.1886A>G (p.Lys629Arg) rs1553508467
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2752G>A (p.Gly918Arg) rs1085307896
NM_000090.4(COL3A1):c.2824-9C>T rs1553509204
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His) rs374527092
NM_000090.4(COL3A1):c.3068G>A (p.Gly1023Asp) rs1553509401
NM_000090.4(COL3A1):c.3201+10C>G rs372405344
NM_000090.4(COL3A1):c.3527G>A (p.Gly1176Asp) rs1553509726
NM_000090.4(COL3A1):c.636+5G>A rs587779688
NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000141.5(FGFR2):c.1477G>T (p.Gly493Trp) rs1554917471
NM_000141.5(FGFR2):c.2021C>T (p.Ala674Val) rs1554907337
NM_000381.4(MID1):c.1361A>G (p.Gln454Arg) rs1556004400
NM_000381.4(MID1):c.1393G>C (p.Ala465Pro) rs1556004366
NM_000381.4(MID1):c.1454del (p.Pro485fs) rs1556003200
NM_000381.4(MID1):c.1608_1611dup (p.Ser538Ter) rs1556003095
NM_000381.4(MID1):c.1663A>G (p.Ile555Val) rs398123341
NM_000381.4(MID1):c.1725G>A (p.Trp575Ter) rs1556001968
NM_000381.4(MID1):c.1798dup (p.His600fs) rs398123342
NM_000381.4(MID1):c.1881C>A (p.Tyr627Ter) rs1556001856
NM_000381.4(MID1):c.757-1G>C rs1555895725
NM_000381.4(MID1):c.829C>T (p.Arg277Ter) rs1555895704
NM_000381.4(MID1):c.922del (p.Arg308fs) rs1555894390
NM_000393.5(COL5A2):c.3854C>T (p.Pro1285Leu) rs867460091
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751
NM_000489.6(ATRX):c.5039T>C (p.Ile1680Thr) rs1557106482
NM_000489.6(ATRX):c.6794A>G (p.Glu2265Gly) rs1557042387
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1063-1G>C rs1555610955
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_001042492.3(NF1):c.1073_1074insA (p.Phe358fs) rs1555610971
NM_001042492.3(NF1):c.1077del (p.Pro360fs) rs1555610972
NM_001042492.3(NF1):c.1104_1107del (p.Gln369fs) rs1555610984
NM_001042492.3(NF1):c.1237T>C (p.Ser413Pro) rs1555611093
NM_001042492.3(NF1):c.1244A>G (p.His415Arg) rs1555611097
NM_001042492.3(NF1):c.1245del (p.Arg416fs) rs1555611098
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1260+6T>C rs1555611111
NM_001042492.3(NF1):c.1260+6T>G rs1555611111
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser) rs1555611581
NM_001042492.3(NF1):c.1392+1G>A rs267604791
NM_001042492.3(NF1):c.1393-1G>C rs1131691131
NM_001042492.3(NF1):c.1393-2A>G rs1555612266
NM_001042492.3(NF1):c.1413_1414delinsT (p.Lys471fs) rs1555612273
NM_001042492.3(NF1):c.1490del (p.Val497fs) rs1555612286
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_001042492.3(NF1):c.1527+2T>C rs1064796700
NM_001042492.3(NF1):c.1527+5G>A rs1060500352
NM_001042492.3(NF1):c.1540C>T (p.Gln514Ter) rs1316926587
NM_001042492.3(NF1):c.1541del (p.Gln514fs) rs1555612815
NM_001042492.3(NF1):c.1598T>G (p.Val533Gly) rs1555612857
NM_001042492.3(NF1):c.1607C>A (p.Ser536Ter) rs1555612859
NM_001042492.3(NF1):c.1607C>G (p.Ser536Ter) rs1555612859
NM_001042492.3(NF1):c.1641+2T>C rs1555612867
NM_001042492.3(NF1):c.1642-1G>A rs1555613185
NM_001042492.3(NF1):c.1642-8A>G rs267606602
NM_001042492.3(NF1):c.1655T>G (p.Leu552Arg) rs1555613193
NM_001042492.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1845+2T>C rs1555613430
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter) rs1555613543
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.188del (p.Lys63fs) rs1555604939
NM_001042492.3(NF1):c.2002-1G>A rs1555613743
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.2035dup (p.Ile679fs) rs1555613773
NM_001042492.3(NF1):c.204+1G>A rs886039548
NM_001042492.3(NF1):c.205-1G>C rs1555605362
NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_001042492.3(NF1):c.2187dup (p.Asn730Ter) rs1555613821
NM_001042492.3(NF1):c.2252-1G>T rs587781577
NM_001042492.3(NF1):c.2252-2A>C rs1131691105
NM_001042492.3(NF1):c.2252-2A>G rs1131691105
NM_001042492.3(NF1):c.2269A>T (p.Lys757Ter) rs1270674587
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_001042492.3(NF1):c.2309_2315dup (p.Asn773fs) rs1555613926
NM_001042492.3(NF1):c.2325+1G>A rs1555613933
NM_001042492.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2356C>T (p.Gln786Ter) rs1555613999
NM_001042492.3(NF1):c.2409+1G>C rs1555614022
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.3(NF1):c.246_247del (p.Gln83fs) rs771115661
NM_001042492.3(NF1):c.2533T>C (p.Cys845Arg) rs1060500254
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2552del (p.Cys851fs) rs1555614260
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_001042492.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_001042492.3(NF1):c.266C>A (p.Thr89Lys) rs1555605392
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg) rs1555605393
NM_001042492.3(NF1):c.2739dup (p.Arg914fs) rs1555614319
NM_001042492.3(NF1):c.2786T>C (p.Leu929Pro) rs1555614338
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.2842dup (p.Gln948fs) rs1555614354
NM_001042492.3(NF1):c.2846dup (p.Gln950fs) rs1555614358
NM_001042492.3(NF1):c.2850+1G>A rs1131691122
NM_001042492.3(NF1):c.2873_2877delinsTGG (p.Thr958fs) rs1555614426
NM_001042492.3(NF1):c.2876_2877insG (p.Phe960fs) rs1555614429
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2990+5G>A rs1555614464
NM_001042492.3(NF1):c.2991-2A>C rs1555614495
NM_001042492.3(NF1):c.2T>A (p.Met1Lys) rs886041346
NM_001042492.3(NF1):c.3046T>C (p.Cys1016Arg) rs878853880
NM_001042492.3(NF1):c.3113+2T>G rs876658997
NM_001042492.3(NF1):c.3114-1G>A rs1555614611
NM_001042492.3(NF1):c.3124del (p.Met1041_Val1042insTer) rs1555614624
NM_001042492.3(NF1):c.3197+1G>A rs1555614653
NM_001042492.3(NF1):c.3198-2A>G rs1131691089
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_001042492.3(NF1):c.3288_3294dup (p.Lys1099fs) rs1555614862
NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter) rs1555614867
NM_001042492.3(NF1):c.3318C>A (p.Tyr1106Ter) rs876659289
NM_001042492.3(NF1):c.3324_3325del (p.Leu1109fs) rs1555614918
NM_001042492.3(NF1):c.3357del (p.Val1120fs) rs1555614934
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val) rs1555615039
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg) rs1555615047
NM_001042492.3(NF1):c.3644T>C (p.Met1215Thr) rs1555615071
NM_001042492.3(NF1):c.3656_3658del (p.Gly1219del) rs1555615077
NM_001042492.3(NF1):c.3686del (p.Asn1229fs) rs1555615103
NM_001042492.3(NF1):c.3708+3A>T rs1555615114
NM_001042492.3(NF1):c.3767T>G (p.Leu1256Arg) rs1555615457
NM_001042492.3(NF1):c.3787_3788insT (p.Lys1263fs) rs1555615467
NM_001042492.3(NF1):c.3791_3801del (p.Glu1264fs) rs1555615469
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs) rs1555615472
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro) rs137854556
NM_001042492.3(NF1):c.3864T>A (p.Cys1288Ter) rs1555615495
NM_001042492.3(NF1):c.3911del (p.Leu1304fs) rs1555615549
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.4076_4077insA (p.Gln1360fs) rs1555617364
NM_001042492.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter) rs1555618494
NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val) rs199474789
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) rs1555618516
NM_001042492.3(NF1):c.4306G>T (p.Glu1436Ter) rs876660428
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln) rs137854550
NM_001042492.3(NF1):c.4332+2T>C rs786204207
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=) rs199474750
NM_001042492.3(NF1):c.4333-2A>G rs1555618634
NM_001042492.3(NF1):c.4339C>T (p.Gln1447Ter) rs1135402857
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro) rs786204157
NM_001042492.3(NF1):c.4352A>C (p.Asn1451Thr) rs199474754
NM_001042492.3(NF1):c.4352A>T (p.Asn1451Ile) rs199474754
NM_001042492.3(NF1):c.4369_4371del (p.Lys1457del) rs1555618653
NM_001042492.3(NF1):c.4430+1G>C rs773151680
NM_001042492.3(NF1):c.4586A>G (p.Lys1529Arg) rs1555619001
NM_001042492.3(NF1):c.4635C>G (p.Tyr1545Ter) rs754023358
NM_001042492.3(NF1):c.4658del (p.Pro1553fs) rs1555619029
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs) rs1555619033
NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter) rs137854555
NM_001042492.3(NF1):c.4744_4745del (p.Glu1582fs) rs1555619395
NM_001042492.3(NF1):c.4783del (p.Gln1595fs) rs1555619404
NM_001042492.3(NF1):c.4821T>A (p.Tyr1607Ter) rs1555619416
NM_001042492.3(NF1):c.4835+1G>A rs1085307819
NM_001042492.3(NF1):c.4836-1G>A rs1057518326
NM_001042492.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_001042492.3(NF1):c.4934T>G (p.Leu1645Arg) rs1555533305
NM_001042492.3(NF1):c.496_497del (p.Val166fs) rs1135402788
NM_001042492.3(NF1):c.4977_4980del (p.Lys1661fs) rs1085307459
NM_001042492.3(NF1):c.4998del (p.Pro1667fs) rs1135402867
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5065dup (p.Tyr1689fs) rs1555533359
NM_001042492.3(NF1):c.5072_5073delinsCCC (p.Lys1691fs) rs1555533363
NM_001042492.3(NF1):c.5268+2T>G rs1555533416
NM_001042492.3(NF1):c.5269-2A>G rs1555533548
NM_001042492.3(NF1):c.5273G>C (p.Gly1758Ala) rs1358882546
NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp) rs1555533550
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter) rs1555533569
NM_001042492.3(NF1):c.5492G>A (p.Trp1831Ter) rs1135402872
NM_001042492.3(NF1):c.5548_5549del (p.Val1850fs) rs1555533636
NM_001042492.3(NF1):c.5560_5562delinsT (p.Leu1854fs) rs1555533641
NM_001042492.3(NF1):c.55G>T (p.Glu19Ter) rs786203307
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5610-2A>T rs1135402876
NM_001042492.3(NF1):c.5624A>G (p.Asn1875Ser) rs1555533843
NM_001042492.3(NF1):c.5663dup (p.Glu1889fs) rs1555533856
NM_001042492.3(NF1):c.5676A>C (p.Leu1892Phe) rs876658130
NM_001042492.3(NF1):c.5676dup (p.Leu1893fs) rs1475358670
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg) rs786203824
NM_001042492.3(NF1):c.5786_5787del (p.Glu1929fs) rs1555533882
NM_001042492.3(NF1):c.5812+1G>T rs876658854
NM_001042492.3(NF1):c.5812+2T>C rs1555533887
NM_001042492.3(NF1):c.5836T>A (p.Leu1946Met) rs1422333640
NM_001042492.3(NF1):c.586+1G>A rs1555607126
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.3(NF1):c.60+2del rs1131691101
NM_001042492.3(NF1):c.6007-1G>A rs1555534596
NM_001042492.3(NF1):c.6007-2A>G rs1555534595
NM_001042492.3(NF1):c.6007-5A>G rs267606604
NM_001042492.3(NF1):c.6147+1G>A rs1060500296
NM_001042492.3(NF1):c.6147+2T>C rs1555534621
NM_001042492.3(NF1):c.6227_6228dup (p.Asp2077fs) rs1555534680
NM_001042492.3(NF1):c.6304dup (p.Tyr2102fs) rs1555534712
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs) rs1135402888
NM_001042492.3(NF1):c.654+4del rs1555608683
NM_001042492.3(NF1):c.655-2A>C rs1555608734
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6642+1G>T rs1060500345
NM_001042492.3(NF1):c.6645del (p.Cys2216fs) rs1555534913
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter) rs1555534918
NM_001042492.3(NF1):c.6671del (p.Lys2224fs) rs1555534919
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_001042492.3(NF1):c.6704+2T>G rs1555534928
NM_001042492.3(NF1):c.6705-17G>A rs1064795966
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6780_6791delinsATGAGAC (p.His2261_Ile2264delinsTer) rs1555534952
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs) rs1555535027
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6855dup (p.Asn2286fs) rs1555535041
NM_001042492.3(NF1):c.6921+1G>T rs1060500355
NM_001042492.3(NF1):c.6921+2T>A rs1555535053
NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn) rs1057523533
NM_001042492.3(NF1):c.6952_6955del (p.Val2318fs) rs1555535163
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro) rs1131691267
NM_001042492.3(NF1):c.6979_6980insTA (p.Glu2327fs) rs1555535171
NM_001042492.3(NF1):c.7006G>C (p.Ala2336Pro) rs587781428
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg) rs1555535179
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7157T>C (p.Phe2386Ser) rs1555535439
NM_001042492.3(NF1):c.7169_7178delinsCAGC (p.Leu2390_His2393delinsSerAla) rs1555535448
NM_001042492.3(NF1):c.730+1G>T rs1060500274
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs) rs1064794278
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7581del (p.Gln2528fs) rs878853917
NM_001042492.3(NF1):c.7619C>A (p.Thr2540Lys) rs1555536633
NM_001042492.3(NF1):c.7701dup (p.Lys2568fs) rs1060500295
NM_001042492.3(NF1):c.7753del (p.Ser2585fs) rs1555536685
NM_001042492.3(NF1):c.7760C>G (p.Ser2587Ter) rs1131691090
NM_001042492.3(NF1):c.7870-13dup rs369360556
NM_001042492.3(NF1):c.7870-20A>G rs574898272
NM_001042492.3(NF1):c.7906C>T (p.Gln2636Ter) rs567988442
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.7970+6T>G rs1555536775
NM_001042492.3(NF1):c.8159del (p.Lys2720fs) rs1555537029
NM_001042492.3(NF1):c.8160+1G>A rs1555537032
NM_001042492.3(NF1):c.817del (p.Leu273fs) rs1555608972
NM_001042492.3(NF1):c.8222C>A (p.Thr2741Lys) rs144178015
NM_001042492.3(NF1):c.888+1G>A rs1135402799
NM_001042492.3(NF1):c.889-1G>A rs587781517
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.943C>T (p.Gln315Ter) rs766011053
NM_001042492.3(NF1):c.959C>A (p.Ala320Asp) rs1555610884
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer) rs1555610893
NM_001042492.3(NF1):c.988del (p.Ala330fs) rs1555610896
NM_001042492.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
NM_001083962.2(TCF4):c.1066_1067dup (p.Ala357fs) rs1555775233
NM_001083962.2(TCF4):c.1169del (p.Arg389_Leu390insTer) rs1555764839
NM_001083962.2(TCF4):c.1512_1513insTAGTCCAG (p.Ser505Ter) rs1555718354
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His) rs121909123
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001122659.3(EDNRB):c.521del (p.Cys174fs) rs1458799604
NM_001122659.3(EDNRB):c.550T>C (p.Ser184Pro) rs1555290659
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter) rs104894391
NM_001291415.2(KDM6A):c.62del (p.Glu21fs) rs1555957146
NM_001291415.2(KDM6A):c.660A>T (p.Lys220Asn) rs587778423
NM_001354604.2(MITF):c.1031+4A>C rs1553704850
NM_001354604.2(MITF):c.1072G>A (p.Val358Met) rs1271000541
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) rs1057517966
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.669G>A (p.Met223Ile) rs1032758072
NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro) rs1553702406
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) rs1553704097
NM_001372066.1(TFAP2A):c.1320A>G (p.Ter440Trp) rs1554110673
NM_001372066.1(TFAP2A):c.407_413dup (p.Pro139fs) rs1554112492
NM_001372066.1(TFAP2A):c.703G>A (p.Glu235Lys) rs1554111751
NM_001372066.1(TFAP2A):c.716G>A (p.Arg239Gln) rs151344525
NM_001372066.1(TFAP2A):c.716G>C (p.Arg239Pro) rs151344525
NM_001372066.1(TFAP2A):c.719T>C (p.Leu240Pro) rs1554111734
NM_001372066.1(TFAP2A):c.755G>A (p.Gly252Asp) rs1554111717
NM_001372066.1(TFAP2A):c.766C>G (p.Arg256Gly) rs151344528
NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp) rs151344528
NM_001372066.1(TFAP2A):c.767G>A (p.Arg256Gln) rs151344530
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly) rs121909574
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val) rs151344531
NM_001372066.1(TFAP2A):c.895G>C (p.Ala299Pro) rs1554110994
NM_001999.4(FBN2):c.3459GAA[1] (p.Lys1154del) rs1554123139
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe) rs1206843725
NM_001999.4(FBN2):c.3718T>G (p.Cys1240Gly) rs1554122897
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr) rs794727560
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_003482.4(KMT2D):c.10090C>T (p.Gln3364Ter) rs1210590639
NM_003482.4(KMT2D):c.10378C>T (p.Gln3460Ter) rs1555189450
NM_003482.4(KMT2D):c.10440+2T>G rs1555189421
NM_003482.4(KMT2D):c.10653dup (p.Ala3552fs) rs763440821
NM_003482.4(KMT2D):c.10999C>T (p.Gln3667Ter) rs1555189038
NM_003482.4(KMT2D):c.11044C>G (p.Gln3682Glu) rs1223171002
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.4(KMT2D):c.11422del (p.Ala3808fs) rs1555188704
NM_003482.4(KMT2D):c.1143del (p.Thr382fs) rs1064796125
NM_003482.4(KMT2D):c.11456del (p.Gly3819fs) rs1555188687
NM_003482.4(KMT2D):c.11472_11473del (p.His3824fs) rs1555188670
NM_003482.4(KMT2D):c.11568GCA[6] (p.Gln3863dup) rs748986705
NM_003482.4(KMT2D):c.11635_11636del (p.Leu3880fs) rs1555188561
NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter) rs398123708
NM_003482.4(KMT2D):c.11710C>T (p.Gln3904Ter) rs1555188537
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.11739del (p.Gln3913fs) rs1555188520
NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter) rs1555188518
NM_003482.4(KMT2D):c.11848C>T (p.Gln3950Ter) rs1555188430
NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter) rs1555188080
NM_003482.4(KMT2D):c.12546dup (p.Gln4183fs) rs1555188026
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.4(KMT2D):c.12697C>T (p.Gln4233Ter) rs1555187930
NM_003482.4(KMT2D):c.12808C>T (p.Gln4270Ter) rs1555187869
NM_003482.4(KMT2D):c.12896del (p.Gly4299fs) rs587783686
NM_003482.4(KMT2D):c.1301del (p.Leu434fs) rs1555197738
NM_003482.4(KMT2D):c.13026_13027dup (p.Thr4343fs) rs1555187741
NM_003482.4(KMT2D):c.13213C>T (p.Gln4405Ter) rs1555187575
NM_003482.4(KMT2D):c.13346del (p.Leu4449fs) rs1555187485
NM_003482.4(KMT2D):c.13367C>G (p.Ser4456Ter) rs1555187461
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs) rs587783693
NM_003482.4(KMT2D):c.14000-3C>G rs1355372507
NM_003482.4(KMT2D):c.14055_14056del (p.His4685fs) rs1555186627
NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.4(KMT2D):c.14469del (p.Ala4824fs) rs1555186257
NM_003482.4(KMT2D):c.14515+1G>A rs1555186232
NM_003482.4(KMT2D):c.14669_14672del (p.Thr4890fs) rs1555186087
NM_003482.4(KMT2D):c.14713C>T (p.Gln4905Ter) rs1555186053
NM_003482.4(KMT2D):c.14722del (p.Ala4908fs) rs1555186044
NM_003482.4(KMT2D):c.14833delinsAA (p.Pro4945fs) rs1555185978
NM_003482.4(KMT2D):c.14878C>T (p.Arg4960Ter) rs1555185969
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.4(KMT2D):c.15286C>T (p.Gln5096Ter) rs1555185817
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg) rs1555185701
NM_003482.4(KMT2D):c.15583C>T (p.Gln5195Ter) rs1555185699
NM_003482.4(KMT2D):c.15589G>A (p.Ala5197Thr) rs1555185696
NM_003482.4(KMT2D):c.15640C>T (p.Arg5214Cys) rs398123728
NM_003482.4(KMT2D):c.15731_15732del (p.Lys5244fs) rs1555185610
NM_003482.4(KMT2D):c.16125del (p.Tyr5376fs) rs1555184893
NM_003482.4(KMT2D):c.16211C>G (p.Ser5404Cys) rs1555184837
NM_003482.4(KMT2D):c.16295G>A (p.Arg5432Gln) rs398123734
NM_003482.4(KMT2D):c.16338+1G>T rs1555184782
NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter) rs267607239
NM_003482.4(KMT2D):c.16437del (p.Asn5480fs) rs1555184635
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.4(KMT2D):c.16470del (p.Glu5491fs) rs1555184624
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.176+15G>A rs1415205254
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.4(KMT2D):c.1940del (p.Pro647fs) rs770315135
NM_003482.4(KMT2D):c.2110_2113delinsTC (p.Asp704fs) rs1555197101
NM_003482.4(KMT2D):c.2263dup (p.Arg755fs) rs1555196984
NM_003482.4(KMT2D):c.2546C>A (p.Ser849Ter) rs370492566
NM_003482.4(KMT2D):c.2578_2579del (p.Leu860fs) rs1555196742
NM_003482.4(KMT2D):c.2819C>G (p.Ser940Ter) rs1555196590
NM_003482.4(KMT2D):c.2992C>T (p.Pro998Ser) rs143711798
NM_003482.4(KMT2D):c.3019_3020del (p.Ser1007fs) rs1555196459
NM_003482.4(KMT2D):c.305G>A (p.Ser102Asn) rs368471915
NM_003482.4(KMT2D):c.3649dup (p.Ser1217fs) rs1555196084
NM_003482.4(KMT2D):c.3789_3790del (p.Leu1264fs) rs1555196016
NM_003482.4(KMT2D):c.4130A>C (p.Gln1377Pro) rs1555195573
NM_003482.4(KMT2D):c.4131G>A (p.Gln1377=) rs764942
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.4160G>T (p.Gly1387Val) rs1555195461
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.4(KMT2D):c.423G>A (p.Trp141Ter) rs1555198640
NM_003482.4(KMT2D):c.432A>G (p.Ala144=) rs1555198633
NM_003482.4(KMT2D):c.4379del (p.Pro1460fs) rs1240601136
NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs) rs1555195118
NM_003482.4(KMT2D):c.4569C>G (p.Cys1523Trp) rs1555194993
NM_003482.4(KMT2D):c.4710del (p.Glu1571fs) rs1555194822
NM_003482.4(KMT2D):c.4724T>C (p.Met1575Thr) rs1555194803
NM_003482.4(KMT2D):c.474_475del (p.Cys158fs) rs1555198590
NM_003482.4(KMT2D):c.4762G>T (p.Glu1588Ter) rs1290729871
NM_003482.4(KMT2D):c.4766G>A (p.Gly1589Asp) rs1555194524
NM_003482.4(KMT2D):c.50-1G>T rs1555198921
NM_003482.4(KMT2D):c.5058dup (p.Arg1687fs) rs1555194303
NM_003482.4(KMT2D):c.5135_5136del (p.Lys1712fs) rs1555194236
NM_003482.4(KMT2D):c.5166del (p.Ser1722fs) rs367537992
NM_003482.4(KMT2D):c.5189-13G>A rs375365635
NM_003482.4(KMT2D):c.5467G>T (p.Gly1823Ter) rs1555193912
NM_003482.4(KMT2D):c.5597del (p.Pro1866fs) rs1555193755
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.4(KMT2D):c.6594dup (p.Tyr2199fs) rs1555192751
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.6844del (p.Arg2282fs) rs1555192531
NM_003482.4(KMT2D):c.6955dup (p.Leu2319fs) rs1555192457
NM_003482.4(KMT2D):c.6966dup (p.Thr2323fs) rs1555192451
NM_003482.4(KMT2D):c.6992del (p.Leu2331fs) rs1555192437
NM_003482.4(KMT2D):c.702del (p.Pro235fs) rs1555198318
NM_003482.4(KMT2D):c.7282del (p.Arg2428fs) rs1555192218
NM_003482.4(KMT2D):c.7291_7294del (p.Ser2431fs) rs1555192210
NM_003482.4(KMT2D):c.7426G>T (p.Glu2476Ter) rs1555192113
NM_003482.4(KMT2D):c.7451T>C (p.Leu2484Pro) rs1555192083
NM_003482.4(KMT2D):c.7479dup (p.Phe2494fs) rs1555192051
NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs) rs35584294
NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter) rs1555191740
NM_003482.4(KMT2D):c.8027_8028del (p.Glu2676fs) rs1555191665
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598
NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs) rs587783728
NM_003482.4(KMT2D):c.8350_8351del (p.Met2784fs) rs1555191324
NM_003482.4(KMT2D):c.838A>G (p.Arg280Gly) rs1555198244
NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter) rs1555191203
NM_003482.4(KMT2D):c.8474_8477dup (p.Thr2827fs) rs1555191177
NM_003482.4(KMT2D):c.8516C>G (p.Ser2839Ter) rs1555191147
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.4(KMT2D):c.8859_8861delinsCA (p.Lys2953fs) rs1555190907
NM_003482.4(KMT2D):c.8952del (p.Lys2985fs) rs1555190806
NM_003482.4(KMT2D):c.9417del (p.Lys3140fs) rs1555190550
NM_003482.4(KMT2D):c.9439G>A (p.Ala3147Thr) rs1555190514
NM_003482.4(KMT2D):c.9595del (p.Ser3199fs) rs1555190391
NM_004333.6(BRAF):c.1382A>G (p.Gln461Arg) rs1554399925
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004465.2(FGF10):c.1A>G (p.Met1Val) rs1554040396
NM_004465.2(FGF10):c.232del (p.Arg78fs) rs1554040364
NM_004465.2(FGF10):c.240A>C (p.Arg80Ser) rs104893888
NM_004465.2(FGF10):c.256del (p.Thr86fs) rs1554040361
NM_004465.2(FGF10):c.356del (p.Gly119fs) rs1554035763
NM_004465.2(FGF10):c.401T>A (p.Met134Lys) rs1554035757
NM_004465.2(FGF10):c.541A>C (p.Asn181His) rs1332768200
NM_004465.2(FGF10):c.550G>A (p.Gly184Arg) rs1554035469
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_006941.4(SOX10):c.1090C>T (p.Gln364Ter) rs1555937400
NM_006941.4(SOX10):c.1095dup (p.Pro366fs) rs1555937395
NM_006941.4(SOX10):c.1107del (p.His368_Tyr369insTer) rs1555937390
NM_006941.4(SOX10):c.127C>T (p.Arg43Ter) rs1555939523
NM_006941.4(SOX10):c.141del (p.Pro48fs) rs1064796049
NM_006941.4(SOX10):c.255_274dup (p.Val92fs) rs1555939476
NM_006941.4(SOX10):c.298_300delinsGG (p.Ser100fs) rs1555939460
NM_006941.4(SOX10):c.301A>T (p.Lys101Ter) rs1555939459
NM_006941.4(SOX10):c.334A>G (p.Met112Val) rs1555939439
NM_006941.4(SOX10):c.364C>G (p.Leu122Val) rs1555939426
NM_006941.4(SOX10):c.380dup (p.His128fs) rs1555939421
NM_006941.4(SOX10):c.426G>C (p.Trp142Cys) rs1555939403
NM_006941.4(SOX10):c.452G>C (p.Arg151Pro) rs1373797370
NM_006941.4(SOX10):c.586G>T (p.Glu196Ter) rs763210407
NM_006941.4(SOX10):c.934dup (p.Ser312fs) rs1555937463
NM_014795.4(ZEB2):c.1162C>T (p.Leu388Phe) rs1553961748
NM_014795.4(ZEB2):c.1168del (p.Ile390fs) rs1553961747
NM_014795.4(ZEB2):c.2227del (p.Ser743fs) rs1553961580
NM_014795.4(ZEB2):c.247dup (p.Glu83fs) rs1553964145
NM_014795.4(ZEB2):c.3023T>G (p.Phe1008Cys) rs1553961332
NM_014795.4(ZEB2):c.3200C>A (p.Ser1067Ter) rs1423851170
NM_017780.4(CHD7):c.1294del (p.His432fs) rs1554581646
NM_017780.4(CHD7):c.1597_1598insT (p.His533fs) rs1554581814
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.3089A>C (p.Asn1030Thr) rs886041167
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.5210+3A>G rs1554602588
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter) rs1360515765
NM_017780.4(CHD7):c.7648G>T (p.Glu2550Ter) rs1554605973
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.8087del (p.Pro2696fs) rs1554606910
NM_017780.4(CHD7):c.862C>T (p.Gln288Ter) rs1554581399
NM_017780.4(CHD7):c.8744dup (p.Leu2916fs) rs1554607313
NM_022455.5(NSD1):c.2314del (p.Ala772fs) rs1554189482
NM_022455.5(NSD1):c.3036_3054dup (p.Arg1019delinsPheArgLeuCysTyrTer) rs1554189972
NM_022455.5(NSD1):c.3649C>A (p.Pro1217Thr) rs372004424
NM_022455.5(NSD1):c.4498-10del rs200890017
NM_022455.5(NSD1):c.4765+18C>T rs751340849
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.5758T>A (p.Cys1920Ser) rs1554204122
NM_022455.5(NSD1):c.5779G>C (p.Ala1927Pro) rs1554204128
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.5(NSD1):c.6107_6109dup (p.Gly2036_Asp2037insGly) rs1554204958
NM_022455.5(NSD1):c.6328C>T (p.Gln2110Ter) rs1554206783
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs) rs1554206836
NM_022455.5(NSD1):c.6613C>T (p.His2205Tyr) rs1554207316
NM_033360.4(KRAS):c.*44C>T rs1555192443
NM_152594.3(SPRED1):c.103G>T (p.Gly35Ter) rs1555389690
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter) rs121434315
NM_152594.3(SPRED1):c.1_2del (p.Met1fs) rs1555386649
NM_152594.3(SPRED1):c.24del (p.Asp9fs) rs1555386654
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.7_20del (p.Glu3fs) rs1555386651
NM_152594.3(SPRED1):c.880_881dup (p.Ser295fs) rs1555392750
NM_181458.4(PAX3):c.1021C>T (p.Gln341Ter) rs1553572740
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg) rs773327091
NM_181458.4(PAX3):c.1277C>A (p.Ser426Ter) rs369886550
NM_181458.4(PAX3):c.136dup (p.Ile46fs) rs1553594009
NM_181458.4(PAX3):c.1372_1375dup (p.Ser459fs) rs1553568831
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg) rs1419548558
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter) rs1356246522
NM_181458.4(PAX3):c.218C>T (p.Ser73Leu) rs1553593928
NM_181458.4(PAX3):c.227T>G (p.Leu76Arg) rs1553593925
NM_181458.4(PAX3):c.232G>T (p.Val78Leu) rs1553593917
NM_181458.4(PAX3):c.246C>A (p.Cys82Ter) rs777297575
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp) rs777297575
NM_181458.4(PAX3):c.269A>G (p.Tyr90Cys) rs1553593874
NM_181458.4(PAX3):c.293C>T (p.Pro98Leu) rs1553593856
NM_181458.4(PAX3):c.452-9C>A rs1379006499
NM_181458.4(PAX3):c.482_484delinsTA (p.Lys161fs) rs1553592757
NM_181458.4(PAX3):c.524dup (p.Glu176fs) rs1553592713
NM_181458.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer) rs1553592703
NM_181458.4(PAX3):c.692T>C (p.Leu231Pro) rs1553575191
NM_181458.4(PAX3):c.730C>T (p.Pro244Ser) rs1553575183
NM_181458.4(PAX3):c.784C>T (p.Arg262Ter) rs886041319
NM_181458.4(PAX3):c.791A>C (p.Gln264Pro) rs1553575157
NM_181458.4(PAX3):c.811C>T (p.Arg271Cys) rs1380858784
NM_181458.4(PAX3):c.812G>A (p.Arg271His) rs774528745
NM_181458.4(PAX3):c.818G>A (p.Arg273Lys) rs1020175890
NM_181458.4(PAX3):c.86-2A>G rs1553594069
NM_181458.4(PAX3):c.921del (p.Ser308fs) rs1553572946
NM_207034.3(EDN3):c.334C>A (p.His112Asn) rs977075341

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