|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
|
NM_001395891.1(CLASP1):c.196-567G>A
|
rs559979281
|
0.00038
|
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
|
NM_016123.4(IRAK4):c.877C>T (p.Gln293Ter)
|
rs121908002
|
0.00035
|
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
|
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)
|
rs119473033
|
0.00013
|
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
|
NM_199242.3(UNC13D):c.1389+1G>A
|
rs777759523
|
0.00006
|
|
NM_172351.3(CD46):c.286+2T>G
|
rs769742294
|
0.00004
|
|
NM_199242.3(UNC13D):c.753+1G>T
|
rs201908137
|
0.00003
|
|
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)
|
rs753508874
|
0.00002
|
|
NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys)
|
rs758110629
|
0.00002
|
|
NM_014140.4(SMARCAL1):c.2291G>A (p.Arg764Gln)
|
rs267607071
|
0.00002
|
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
|
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)
|
rs757785149
|
0.00001
|
|
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)
|
rs397507541
|
0.00001
|
|
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)
|
rs397507529
|
0.00001
|
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
|
GRCh37/hg19 22p13(chr22:135350-150557)x1
|
|
|
|
GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1
|
|
|
|
GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1
|
|
|
|
GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3
|
|
|
|
GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3
|
|
|
|
GRCh37/hg19 22q11.21(chr22:20609932-21576553)x1
|
|
|
|
GRCh37/hg19 8q22.2(chr8:100830629-100833766)x1
|
|
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
|
NM_000061.3:c.(240+1_241-1)_(391+1_392-1)del
|
|
|
|
NM_000061.3:c.495_(520+1_521-1)del
|
|
|
|
NM_000074.3(CD40LG):c.418T>C (p.Trp140Arg)
|
rs104894777
|
|
|
NM_000206.3(IL2RG):c.202G>A (p.Glu68Lys)
|
rs1057520644
|
|
|
NM_000271.5(NPC1):c.3591+2T>C
|
rs1555631888
|
|
|
NM_000271.5(NPC1):c.3618del (p.Lys1206fs)
|
|
|
|
NM_000732.6(CD3D):c.202C>T (p.Arg68Ter)
|
rs111033580
|
|
|
NM_001127208.3(TET2):c.2518del (p.His839_Leu840insTer)
|
|
|
|
NM_001127208.3(TET2):c.3755_3765dup (p.Gly1256Ter)
|
|
|
|
NM_001167.4(XIAP):c.389_392del (p.Asp130fs)
|
rs1556404575
|
|
|
NM_001367916.1(MAGT1):c.948G>A (p.Trp316Ter)
|
rs2076895533
|
|
|
NM_001379200.1(TBX1):c.711+1G>A
|
rs1731409120
|
|
|
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)
|
rs397507542
|
|
|
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)
|
rs397507545
|
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
|
NM_003200.5(TCF3):c.1913C>G (p.Ser638Ter)
|
|
|
|
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter)
|
rs104893624
|
|
|
NM_003998.4(NFKB1):c.159+1G>A
|
rs1741461840
|
|
|
NM_003998.4(NFKB1):c.522_525dup (p.Leu176Ter)
|
rs1724875502
|
|
|
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter)
|
rs1578793312
|
|
|
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro)
|
rs869025340
|
|
|
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)
|
rs387906660
|
|
|
NM_004523.4:c.(1217+1_1218-1)_(1494+1_1495-1)del
|
|
|
|
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)
|
rs1384748892
|
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
|
NM_006912.6(RIT1):c.265T>C (p.Tyr89His)
|
rs869025197
|
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
|
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter)
|
rs121908379
|
|
|
NM_018671.5(UNC45A):c.-98G>T
|
|
|
|
NM_018671.5(UNC45A):c.766dup (p.Ala256fs)
|
rs766346918
|
|
|
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp)
|
rs113994135
|
|
|
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln)
|
rs113994136
|
|
|
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs)
|
rs1161589003
|
|
|
NM_152564.5(VPS13B):c.4997del (p.Thr1666fs)
|
rs2133808512
|
|
|
NM_152564.5(VPS13B):c.5908+2dup
|
rs587777381
|
|