|
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_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
|
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)
|
rs72553875
|
0.00031
|
|
NM_006949.4(STXBP2):c.1247-1G>C
|
rs140148806
|
0.00024
|
|
NM_001085487.3(MYSM1):c.219-1G>A
|
rs201886018
|
0.00016
|
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
|
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)
|
rs559088058
|
0.00006
|
|
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)
|
rs769248873
|
0.00005
|
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
|
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)
|
rs758829443
|
0.00002
|
|
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu)
|
rs179363889
|
0.00002
|
|
NM_000631.5(NCF4):c.529-2A>T
|
rs199890705
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)
|
rs781784543
|
0.00002
|
|
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)
|
rs730881619
|
0.00001
|
|
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)
|
rs750323164
|
0.00001
|
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
|
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)
|
rs933746831
|
0.00001
|
|
NM_000051.4(ATM):c.237del (p.Lys79fs)
|
rs730881303
|
|
|
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)
|
rs786201675
|
|
|
NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs)
|
rs886038189
|
|
|
NM_001083116.3(PRF1):c.963del (p.Glu323fs)
|
rs2132476029
|
|
|
NM_001142864.4(PIEZO1):c.4341del (p.Tyr1448fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)
|
rs193302903
|
|
|
NM_002351.5(SH2D1A):c.2T>C (p.Met1Thr)
|
rs2147519353
|
|
|
NM_002834.5(PTPN11):c.1187A>G (p.Tyr396Cys)
|
|
|
|
NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu)
|
rs397507536
|
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
|
NM_004985.5(KRAS):c.229G>T (p.Gly77Cys)
|
rs2141509652
|
|
|
NM_005045.4(RELN):c.7120G>T (p.Glu2374Ter)
|
|
|
|
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile)
|
rs727505093
|
|
|
NM_006912.6(RIT1):c.265T>C (p.Tyr89His)
|
rs869025197
|
|
|
NM_006929.5(SKIC2):c.2203-1G>A
|
|
|
|
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)
|
rs61736587
|
|
|
NM_032444.4(SLX4):c.838G>T (p.Gly280Ter)
|
|
|
|
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn)
|
rs2145836461
|
|
|
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter)
|
rs777593389
|
|
|
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter)
|
rs1057516559
|
|
|
NM_152564.5(VPS13B):c.9331-1G>A
|
rs386834119
|
|
|
NM_206937.2(LIG4):c.1904del (p.Lys635fs)
|
rs375554612
|
|