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
|
|