NM_001377265.1(MAPT):c.*1145_*1146insT
|
rs1491446284
|
0.40313
|
NM_015443.4(KANSL1):c.-90+8C>T
|
rs72836333
|
0.35522
|
NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu)
|
rs7220988
|
0.34127
|
NM_001377265.1(MAPT):c.*1101A>G
|
rs1052590
|
0.14499
|
NM_001377265.1(MAPT):c.*1759T>C
|
rs7687
|
0.14487
|
NM_001377265.1(MAPT):c.*2806A>C
|
rs2158257
|
0.14473
|
NM_001377265.1(MAPT):c.*1067T>C
|
rs1052587
|
0.14468
|
NM_001377265.1(MAPT):c.*2972T>C
|
rs17574228
|
0.14466
|
NM_001377265.1(MAPT):c.*2079C>T
|
rs17652748
|
0.14441
|
NM_015443.4(KANSL1):c.2742C>T (p.Asp914=)
|
rs35833914
|
0.14434
|
NM_015443.4(KANSL1):c.2751C>T (p.Phe917=)
|
rs36076725
|
0.14426
|
NM_015443.4(KANSL1):c.*742G>A
|
rs7350928
|
0.12614
|
NM_001377265.1(MAPT):c.*1152G>C
|
rs1052594
|
0.12578
|
NM_001377265.1(MAPT):c.*2269G>T
|
rs73317039
|
0.03265
|
NM_001377265.1(MAPT):c.*3848A>G
|
rs114213384
|
0.03189
|
NM_001377265.1(MAPT):c.*1047C>T
|
rs113815715
|
0.02477
|
NM_001377265.1(MAPT):c.*2810G>A
|
rs2158256
|
0.02237
|
NM_001377265.1(MAPT):c.*2167G>A
|
rs16940802
|
0.01564
|
NM_001377265.1(MAPT):c.*2991C>T
|
rs141337757
|
0.01116
|
NM_001377265.1(MAPT):c.*3435T>C
|
rs186977284
|
0.00544
|
NM_001377265.1(MAPT):c.*2956T>C
|
rs181844055
|
0.00514
|
NM_015443.4(KANSL1):c.*1196T>G
|
rs137970866
|
0.00488
|
NM_015443.4(KANSL1):c.*954C>G
|
rs150500194
|
0.00393
|
NM_015443.4(KANSL1):c.*1027C>G
|
rs11870461
|
0.00390
|
NM_015443.4(KANSL1):c.*34_*37del
|
rs373668834
|
0.00257
|
NM_001377265.1(MAPT):c.*3377G>C
|
rs540687358
|
0.00235
|
NM_001377265.1(MAPT):c.*1721C>T
|
rs186042163
|
0.00190
|
NM_015443.4(KANSL1):c.*217C>T
|
rs140200874
|
0.00136
|
NM_001112.4(ADARB1):c.1397-354A>G
|
rs544025652
|
0.00113
|
NM_001377265.1(MAPT):c.*3570T>C
|
rs567899904
|
0.00098
|
NM_001377265.1(MAPT):c.*1465C>T
|
rs189665411
|
0.00039
|
NM_015443.4(KANSL1):c.*626T>C
|
rs533537317
|
0.00022
|
NM_001377265.1(MAPT):c.*3810G>A
|
rs140613804
|
0.00007
|
NM_001378414.1(HDAC4):c.3211G>A (p.Val1071Met)
|
rs766000387
|
0.00004
|
NM_001377265.1(MAPT):c.*3133A>G
|
rs191084195
|
0.00002
|
NM_024725.4(CCDC82):c.535C>T (p.Arg179Ter)
|
rs758691852
|
0.00002
|
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)
|
rs374993554
|
0.00002
|
NM_001112.4(ADARB1):c.1101G>C (p.Lys367Asn)
|
rs778818769
|
0.00001
|
NM_001377265.1(MAPT):c.*1670C>T
|
rs535931288
|
0.00001
|
NM_001377265.1(MAPT):c.*4154T>C
|
rs377535401
|
0.00001
|
GRCh38/hg38 19q13.2(chr19:41987984-42252574)x1
|
|
|
GRCh38/hg38 19q13.2(chr19:42198610-42249880)x1
|
|
|
NC_000019.10:g.41983952_42247520del
|
|
|
NM_001042424.3(NSD2):c.1363_1364dup (p.Asp455fs)
|
rs2108805708
|
|
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys)
|
rs797045164
|
|
NM_001303052.2(MYT1L):c.1808G>T (p.Arg603Leu)
|
rs1264319963
|
|
NM_001377265.1(MAPT):c.*1039C>T
|
rs568260584
|
|
NM_001377265.1(MAPT):c.*1404T>C
|
rs530779128
|
|
NM_001377265.1(MAPT):c.*3078=
|
|
|
NM_001379291.1(BRD4):c.3666_3672dup (p.Glu1225fs)
|
rs2145499914
|
|
NM_001923.5(DDB1):c.2578A>G (p.Thr860Ala)
|
rs757118401
|
|
NM_005048.4(PTH2R):c.473C>T (p.Ser158Phe)
|
rs1553546045
|
|
NM_005639.3(SYT1):c.1098C>G (p.Asp366Glu)
|
rs1565962725
|
|
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer)
|
rs786200959
|
|
NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs)
|
rs786200952
|
|
NM_015443.4(KANSL1):c.*1028T>C
|
rs375427074
|
|
NM_015443.4(KANSL1):c.*1103dup
|
rs142756815
|
|
NM_015443.4(KANSL1):c.*1234_*1235dup
|
rs140510364
|
|
NM_015443.4(KANSL1):c.*1328del
|
rs71665335
|
|
NM_015443.4(KANSL1):c.*1354del
|
rs67641084
|
|
NM_015443.4(KANSL1):c.*1354dup
|
rs67641084
|
|
NM_015443.4(KANSL1):c.*1520del
|
rs67801660
|
|
NM_015443.4(KANSL1):c.*1520dup
|
rs67801660
|
|
NM_015443.4(KANSL1):c.*1551del
|
rs767830420
|
|
NM_015443.4(KANSL1):c.*28ACTA[1]
|
rs767896466
|
|
NM_015443.4(KANSL1):c.*359_*360insAGAGGGC
|
rs113448888
|
|
NM_015443.4(KANSL1):c.*388G>T
|
rs367998611
|
|
NM_015443.4(KANSL1):c.*885del
|
rs5820607
|
|
NM_015443.4(KANSL1):c.-90+19C>G
|
rs1057516026
|
|
NM_015443.4(KANSL1):c.-90+24CCT[3]
|
rs143625699
|
|
NM_015443.4(KANSL1):c.-90+55_-90+57del
|
rs534448299
|
|
NM_017934.7(PHIP):c.3892C>T (p.Arg1298Ter)
|
rs759380520
|
|
NM_020940.4(FHIP2A):c.115G>T (p.Glu39Ter)
|
rs1592013653
|
|
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp)
|
rs753688777
|
|