NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter)
|
rs1269514277
|
0.00005
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter)
|
rs1193716348
|
0.00001
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.4943-1G>A
|
rs1555396863
|
|
NM_000138.5(FBN1):c.961_962del (p.Thr321fs)
|
rs1555401002
|
|
NM_000249.4(MLH1):c.1633dup (p.Thr545fs)
|
rs1553658104
|
|
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs)
|
rs876659681
|
|
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)
|
rs118203549
|
|
NM_000368.5(TSC1):c.982C>T (p.Gln328Ter)
|
rs1554817388
|
|
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs)
|
rs1555508929
|
|
NM_000548.5(TSC2):c.2772del (p.Phe924fs)
|
rs1555508938
|
|
NM_000548.5(TSC2):c.849-1G>C
|
rs45506396
|
|
NM_001042492.3(NF1):c.1063-1G>C
|
rs1555610955
|
|
NM_001042492.3(NF1):c.1104_1107del (p.Gln369fs)
|
rs1555610984
|
|
NM_001042492.3(NF1):c.1393-1G>C
|
rs1131691131
|
|
NM_001042492.3(NF1):c.1393-2A>G
|
rs1555612266
|
|
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg)
|
rs1555612288
|
|
NM_001042492.3(NF1):c.1527+2T>C
|
rs1064796700
|
|
NM_001042492.3(NF1):c.1607C>G (p.Ser536Ter)
|
rs1555612859
|
|
NM_001042492.3(NF1):c.1641+2T>C
|
rs1555612867
|
|
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter)
|
rs953440640
|
|
NM_001042492.3(NF1):c.1845+2T>C
|
rs1555613430
|
|
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter)
|
rs1555613543
|
|
NM_001042492.3(NF1):c.188del (p.Lys63fs)
|
rs1555604939
|
|
NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter)
|
rs1555613816
|
|
NM_001042492.3(NF1):c.2252-2A>G
|
rs1131691105
|
|
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2325G>A (p.Glu775=)
|
rs1555613932
|
|
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter)
|
rs1555614261
|
|
NM_001042492.3(NF1):c.2665dup (p.Thr889fs)
|
rs886041348
|
|
NM_001042492.3(NF1):c.2846dup (p.Gln950fs)
|
rs1555614358
|
|
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.3113+2T>G
|
rs876658997
|
|
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.3427C>T (p.His1143Tyr)
|
rs1555614963
|
|
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)
|
rs1187097568
|
|
NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val)
|
rs1555615039
|
|
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.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.4339C>T (p.Gln1447Ter)
|
rs1135402857
|
|
NM_001042492.3(NF1):c.4430+1G>C
|
rs773151680
|
|
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs)
|
rs1555619033
|
|
NM_001042492.3(NF1):c.4744_4745del (p.Glu1582fs)
|
rs1555619395
|
|
NM_001042492.3(NF1):c.4836-1G>A
|
rs1057518326
|
|
NM_001042492.3(NF1):c.5268+2T>G
|
rs1555533416
|
|
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter)
|
rs1555533569
|
|
NM_001042492.3(NF1):c.5610-2A>T
|
rs1135402876
|
|
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)
|
rs876660696
|
|
NM_001042492.3(NF1):c.6147+2T>C
|
rs1555534621
|
|
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs)
|
rs1135402888
|
|
NM_001042492.3(NF1):c.655-2A>C
|
rs1555608734
|
|
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter)
|
rs1555534918
|
|
NM_001042492.3(NF1):c.6705-17G>A
|
rs1064795966
|
|
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs)
|
rs1555535027
|
|
NM_001042492.3(NF1):c.730+1G>T
|
rs1060500274
|
|
NM_001042492.3(NF1):c.7581del (p.Gln2528fs)
|
rs878853917
|
|
NM_001042492.3(NF1):c.889-1G>A
|
rs587781517
|
|
NM_001083962.2(TCF4):c.1169del (p.Arg389_Leu390insTer)
|
rs1555764839
|
|
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter)
|
rs1131691735
|
|
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter)
|
rs1057521256
|
|
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)
|
rs1553704097
|
|
NM_001370259.2(MEN1):c.1049+2T>C
|
rs1555164946
|
|
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)
|
rs794728616
|
|
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)
|
rs786204242
|
|
NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln)
|
rs1553396458
|
|
NM_003482.4(KMT2D):c.10999C>T (p.Gln3667Ter)
|
rs1555189038
|
|
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter)
|
rs587783682
|
|
NM_003482.4(KMT2D):c.11422del (p.Ala3808fs)
|
rs1555188704
|
|
NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter)
|
rs1555188518
|
|
NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter)
|
rs1555188080
|
|
NM_003482.4(KMT2D):c.12808C>T (p.Gln4270Ter)
|
rs1555187869
|
|
NM_003482.4(KMT2D):c.12896del (p.Gly4299fs)
|
rs587783686
|
|
NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs)
|
rs587783693
|
|
NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter)
|
rs1555186527
|
|
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter)
|
rs587783695
|
|
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His)
|
rs886041404
|
|
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His)
|
rs267607237
|
|
NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter)
|
rs1422752351
|
|
NM_003482.4(KMT2D):c.2263dup (p.Arg755fs)
|
rs1555196984
|
|
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs)
|
rs398123744
|
|
NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs)
|
rs1555195118
|
|
NM_003482.4(KMT2D):c.5467G>T (p.Gly1823Ter)
|
rs1555193912
|
|
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs)
|
rs1555193738
|
|
NM_003482.4(KMT2D):c.6992del (p.Leu2331fs)
|
rs1555192437
|
|
NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs)
|
rs35584294
|
|
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter)
|
rs587783727
|
|
NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs)
|
rs587783728
|
|
NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter)
|
rs1555191203
|
|
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter)
|
rs587783729
|
|
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)
|
rs794729219
|
|
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter)
|
rs398124202
|
|
NM_017780.4(CHD7):c.3379-2A>C
|
rs864622523
|
|
NM_017780.4(CHD7):c.5607+1G>A
|
rs1554603672
|
|
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs)
|
rs1554206836
|
|
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter)
|
rs1356246522
|
|