NM_001164508.2(NEB):c.24114+1G>A
|
rs755239192
|
0.00009
|
NM_001002029.4(C4B):c.3676+1G>A
|
rs771378213
|
0.00004
|
NM_000152.5(GAA):c.2189+1G>T
|
rs1209887739
|
0.00001
|
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His)
|
rs779326725
|
0.00001
|
NM_001282717.2(STAG3):c.2776C>T (p.Arg926Ter)
|
rs764841861
|
0.00001
|
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)
|
rs551541795
|
0.00001
|
NM_017654.4(SAMD9):c.1171G>T (p.Gly391Ter)
|
rs1470207548
|
0.00001
|
NM_000338.3(SLC12A1):c.2805dup (p.Trp936fs)
|
rs776749406
|
|
NM_000355.4(TCN2):c.700del (p.Gln234fs)
|
rs2087597945
|
|
NM_000374.5(UROD):c.583_611del (p.Leu195fs)
|
rs2148982945
|
|
NM_000426.4(LAMA2):c.4996C>T (p.Gln1666Ter)
|
rs2114654019
|
|
NM_000444.6(PHEX):c.645_652del (p.Asn216fs)
|
rs1929218157
|
|
NM_001009944.3(PKD1):c.290A>G (p.Asp97Gly)
|
rs2092684310
|
|
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr)
|
rs1013100046
|
|
NM_001160148.2(DDHD1):c.1842+1G>A
|
rs2139861782
|
|
NM_001165963.4(SCN1A):c.1259C>A (p.Ala420Asp)
|
rs794726826
|
|
NM_001282717.2(STAG3):c.1571del (p.Gln524fs)
|
rs1800917478
|
|
NM_001330078.2(NRXN1):c.772+1128_772+1129del
|
rs1558610072
|
|
NM_001348323.3(TRIP12):c.4838+2T>G
|
rs2040714903
|
|
NM_001351169.2(NT5C2):c.1449+2T>C
|
rs753295868
|
|
NM_001371986.1(UNC80):c.1357del (p.Arg453fs)
|
rs1574574226
|
|
NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs)
|
rs1575147319
|
|
NM_001846.4(COL4A2):c.4183C>T (p.Gln1395Ter)
|
|
|
NM_001943.5(DSG2):c.1015-2A>C
|
rs2144332473
|
|
NM_002335.4(LRP5):c.1058G>A (p.Arg353Gln)
|
rs2153153067
|
|
NM_002900.3(RBP3):c.1408del (p.Asp470fs)
|
rs1836931186
|
|
NM_003482.4(KMT2D):c.12039_12046del (p.Ala4014fs)
|
rs2120433403
|
|
NM_004187.5(KDM5C):c.2243+1G>T
|
rs2073058023
|
|
NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys)
|
rs1064794694
|
|
NM_005645.4(TAF13):c.204+1G>T
|
rs2102105455
|
|
NM_005859.5(PURA):c.640G>T (p.Glu214Ter)
|
rs1581036558
|
|
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs)
|
rs1560422383
|
|
NM_006306.4(SMC1A):c.1342_1348del (p.Ser448fs)
|
rs2075702300
|
|
NM_006306.4(SMC1A):c.3490A>G (p.Asn1164Asp)
|
rs868961188
|
|
NM_007175.8(ERLIN2):c.356A>G (p.Lys119Arg)
|
rs1802974214
|
|
NM_014444.5(TUBGCP4):c.346del (p.His116fs)
|
rs1196276711
|
|
NM_020699.4(GATAD2B):c.614del (p.Asn205fs)
|
|
|
NM_021942.6(TRAPPC11):c.512_515del (p.Ser171fs)
|
rs759415592
|
|
NM_024757.5(EHMT1):c.3627_3633dup (p.Val1212fs)
|
rs1956455734
|
|
NM_030632.3(ASXL3):c.2801T>G (p.Leu934Ter)
|
rs2067636699
|
|
NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter)
|
rs2064355122
|
|
NM_144687.4(NLRP12):c.957del (p.Thr320fs)
|
|
|
NM_172107.4(KCNQ2):c.578C>T (p.Ala193Val)
|
rs796052619
|
|
NM_182961.4(SYNE1):c.18382-1G>A
|
rs762660111
|
|