NM_033419.5(PGAP3):c.*559C>T
|
rs183208638
|
0.00300
|
NM_017837.4(PIGV):c.349A>G (p.Ile117Val)
|
rs142192097
|
0.00097
|
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp)
|
rs147098410
|
0.00040
|
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val)
|
rs369459749
|
0.00009
|
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr)
|
rs760428640
|
0.00006
|
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)
|
rs749249146
|
0.00004
|
NM_032444.4(SLX4):c.5177C>T (p.Ala1726Val)
|
rs752633436
|
0.00004
|
NM_133433.4(NIPBL):c.1847G>A (p.Ser616Asn)
|
rs371073215
|
0.00004
|
NM_001429.4(EP300):c.7082A>G (p.Gln2361Arg)
|
rs1263635747
|
0.00003
|
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile)
|
rs149439295
|
0.00003
|
NM_001374353.1(GLI2):c.1906-4G>A
|
rs373446304
|
0.00002
|
NM_001378183.1(PIEZO2):c.71C>T (p.Ala24Val)
|
rs759000106
|
0.00002
|
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=)
|
rs370689343
|
0.00002
|
NM_015874.6(RBPJ):c.1375G>A (p.Glu459Lys)
|
rs200349793
|
0.00002
|
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg)
|
rs762809955
|
0.00001
|
NM_001374353.1(GLI2):c.1183-54C>T
|
rs1682377263
|
0.00001
|
NM_001429.4(EP300):c.3884C>G (p.Ser1295Cys)
|
rs772897576
|
0.00001
|
NM_002653.5(PITX1):c.158C>T (p.Thr53Met)
|
rs777634577
|
0.00001
|
NM_004247.4(EFTUD2):c.1994C>T (p.Thr665Met)
|
rs2050571775
|
0.00001
|
NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys)
|
rs773159964
|
0.00001
|
NM_005445.4(SMC3):c.1580A>G (p.His527Arg)
|
rs756254563
|
0.00001
|
NM_005850.5(SF3B4):c.716C>T (p.Pro239Leu)
|
rs1553765987
|
0.00001
|
NM_015874.6(RBPJ):c.50G>A (p.Arg17Gln)
|
rs369569682
|
0.00001
|
NM_032444.4(SLX4):c.4096C>T (p.Arg1366Cys)
|
rs368434737
|
0.00001
|
NM_032634.4(PIGO):c.1256C>T (p.Ala419Val)
|
rs777439274
|
0.00001
|
NM_133433.4(NIPBL):c.-79-11559C>T
|
rs1436464402
|
0.00001
|
NM_000474.4(TWIST1):c.518del (p.Ala173fs)
|
rs2115396502
|
|
NM_001164508.2(NEB):c.24850G>A (p.Glu8284Lys)
|
|
|
NM_001374353.1(GLI2):c.198G>A (p.Met66Ile)
|
rs2104869716
|
|
NM_001374353.1(GLI2):c.3810A>C (p.Glu1270Asp)
|
rs2105094470
|
|
NM_001374353.1(GLI2):c.56T>A (p.Ile19Asn)
|
rs750880487
|
|
NM_001378183.1(PIEZO2):c.7037T>G (p.Phe2346Cys)
|
|
|
NM_001429.4(EP300):c.2960C>T (p.Pro987Leu)
|
rs2145740050
|
|
NM_001429.4(EP300):c.301G>A (p.Gly101Ser)
|
rs762557708
|
|
NM_001429.4(EP300):c.3893T>G (p.Leu1298Arg)
|
rs2145762737
|
|
NM_001429.4(EP300):c.7225A>C (p.Ser2409Arg)
|
rs748325077
|
|
NM_001999.4(FBN2):c.6620C>T (p.Thr2207Ile)
|
|
|
NM_002968.3(SALL1):c.424G>C (p.Gly142Arg)
|
rs553871743
|
|
NM_004247.4(EFTUD2):c.63A>T (p.Glu21Asp)
|
rs2051340680
|
|
NM_004247.4(EFTUD2):c.698A>G (p.Glu233Gly)
|
rs2145532453
|
|
NM_004380.3(CREBBP):c.1941+8G>A
|
rs761673254
|
|
NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn)
|
rs2052155279
|
|
NM_004380.3(CREBBP):c.5844_5846dup (p.Ala1949dup)
|
rs2151307787
|
|
NM_004380.3(CREBBP):c.6559C>T (p.Pro2187Ser)
|
rs2151303211
|
|
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu)
|
rs781438241
|
|
NM_004380.3(CREBBP):c.878T>A (p.Val293Glu)
|
rs1239213391
|
|
NM_005445.4(SMC3):c.2783G>A (p.Arg928Gln)
|
rs2134752688
|
|
NM_006265.3(RAD21):c.1143G>C (p.Trp381Cys)
|
rs2130462808
|
|
NM_017617.5(NOTCH1):c.6157A>C (p.Asn2053His)
|
rs1474607963
|
|
NM_018486.3(HDAC8):c.738-1619G>A
|
rs2148050178
|
|
NM_133433.4(NIPBL):c.1229T>C (p.Ile410Thr)
|
rs546539357
|
|
NM_133433.4(NIPBL):c.2246A>C (p.Gln749Pro)
|
rs1178033980
|
|
NM_133433.4(NIPBL):c.5115T>C (p.His1705=)
|
rs2149696602
|
|