|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
|
NM_003917.5(AP1G2):c.464G>A (p.Arg155His)
|
rs200202756
|
0.00007
|
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
|
NM_001377229.1(DISP1):c.4054C>T (p.Pro1352Ser)
|
rs952023183
|
0.00004
|
|
NM_144643.4(SCLT1):c.638C>T (p.Thr213Ile)
|
rs760824351
|
0.00003
|
|
NM_001408.3(CELSR2):c.2858A>G (p.Asn953Ser)
|
rs1223692503
|
0.00002
|
|
NM_005401.5(PTPN14):c.1919G>A (p.Arg640His)
|
rs774735121
|
0.00002
|
|
NM_015395.3(TECPR1):c.2617G>A (p.Asp873Asn)
|
rs767020833
|
0.00002
|
|
NM_144643.4(SCLT1):c.1421T>C (p.Ile474Thr)
|
rs747582277
|
0.00002
|
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
|
NM_005585.5(SMAD6):c.1093G>A (p.Gly365Ser)
|
rs1176080464
|
0.00001
|
|
NM_012414.4(RAB3GAP2):c.1379G>A (p.Arg460Gln)
|
rs757551395
|
0.00001
|
|
NM_014991.6(WDFY3):c.3737A>G (p.Tyr1246Cys)
|
rs751185435
|
0.00001
|
|
NM_152698.3(AMER3):c.2236C>T (p.Arg746Ter)
|
rs768719549
|
0.00001
|
|
NM_198317.3(KLHL17):c.1682C>A (p.Ala561Glu)
|
rs756054473
|
0.00001
|
|
46;XY;t(15;17)(q24;q21.3)dn
|
|
|
|
46;XY;t(6;8)(q13;q13)dn
|
|
|
|
GRCh37/hg19 15q26.3(chr15:100923767-101626187)
|
|
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
|
NM_000208.4(INSR):c.3364G>A (p.Ala1122Thr)
|
rs1250061465
|
|
|
NM_000719.7(CACNA1C):c.5761C>T (p.Pro1921Ser)
|
rs1603462691
|
|
|
NM_000819.5(GART):c.1907T>G (p.Leu636Arg)
|
rs2084898135
|
|
|
NM_000938.3(POLR2B):c.2123C>T (p.Ala708Val)
|
rs1723396043
|
|
|
NM_001007237.3(IGSF3):c.1841G>T (p.Arg614Leu)
|
rs190300523
|
|
|
NM_001034853.2(RPGR):c.780G>T (p.Glu260Asp)
|
rs1328506002
|
|
|
NM_001083962.2(TCF4):c.337G>C (p.Gly113Arg)
|
rs1556050492
|
|
|
NM_001104631.2(PDE4D):c.1339T>C (p.Tyr447His)
|
rs1580132131
|
|
|
NM_001130021.3(ATP6V0A1):c.1340G>A (p.Arg447Gln)
|
rs1204448380
|
|
|
NM_001256.6(CDC27):c.4A>G (p.Thr2Ala)
|
rs62077280
|
|
|
NM_001288718.2(STAT5A):c.1279G>A (p.Ala427Thr)
|
rs1598364148
|
|
|
NM_001288772.2(PIK3C2G):c.761+2T>C
|
rs1949470660
|
|
|
NM_001347217.2(WDR13):c.911C>T (p.Thr304Ile)
|
rs1602147382
|
|
|
NM_001354761.2(ADD1):c.1A>G (p.Met1Val)
|
rs1731205978
|
|
|
NM_001374736.1(DST):c.11993C>G (p.Ser3998Ter)
|
rs1586153937
|
|
|
NM_001382508.1(DROSHA):c.323G>A (p.Arg108Lys)
|
rs1580396270
|
|
|
NM_001387011.1(AMBRA1):c.431C>T (p.Ala144Val)
|
rs1565279367
|
|
|
NM_001389.5(DSCAM):c.4979T>A (p.Ile1660Asn)
|
rs1601280227
|
|
|
NM_001395460.1(TENM2):c.4165C>A (p.Leu1389Met)
|
rs1581659572
|
|
|
NM_001520.4(GTF3C1):c.6040C>A (p.Pro2014Thr)
|
rs750159671
|
|
|
NM_002163.4(IRF8):c.814G>A (p.Gly272Arg)
|
rs1905412024
|
|
|
NM_002211.4(ITGB1):c.2252G>A (p.Trp751Ter)
|
rs1593853217
|
|
|
NM_002235.5(KCNA6):c.233A>G (p.Asp78Gly)
|
rs1591588696
|
|
|
NM_002249.6(KCNN3):c.200AGC[16] (p.Gln79_Gln80dup)
|
rs3831942
|
|
|
NM_003024.3(ITSN1):c.4381C>T (p.Arg1461Cys)
|
rs1985063411
|
|
|
NM_004247.4(EFTUD2):c.2419del (p.Gln807fs)
|
rs2050493812
|
|
|
NM_005883.3(APC2):c.665T>C (p.Ile222Thr)
|
rs2083820577
|
|
|
NM_006622.4(PLK2):c.1049C>T (p.Thr350Ile)
|
rs1579964675
|
|
|
NM_006747.4(SIPA1):c.367A>G (p.Ser123Gly)
|
rs1590917647
|
|
|
NM_012216.4(MID2):c.1757T>C (p.Ile586Thr)
|
rs1602513371
|
|
|
NM_014905.5(GLS):c.1940C>T (p.Thr647Ile)
|
rs1691037804
|
|
|
NM_017442.4(TLR9):c.548C>G (p.Pro183Arg)
|
rs780099835
|
|
|
NM_017617.5(NOTCH1):c.6032T>C (p.Leu2011Pro)
|
rs1589054568
|
|
|
NM_017633.3(TENT5A):c.26C>G (p.Ala9Gly)
|
rs1581992148
|
|
|
NM_017633.3(TENT5A):c.64C>G (p.Pro22Ala)
|
rs1581992092
|
|
|
NM_017633.3(TENT5A):c.65C>G (p.Pro22Arg)
|
rs1311215973
|
|
|
NM_032420.5(PCDH1):c.353A>G (p.Glu118Gly)
|
rs1753000062
|
|
|
NM_152296.5(ATP1A3):c.1978C>A (p.Leu660Ile)
|
rs1599713761
|
|
|
NM_153006.3(NAGS):c.1378C>G (p.Leu460Val)
|
rs1272126077
|
|
|
NM_198253.3(TERT):c.1185G>T (p.Glu395Asp)
|
rs1579596881
|
|
|
NM_198390.3(CMIP):c.1478C>G (p.Thr493Ser)
|
rs1597258512
|
|
|
NM_198904.4(GABRG2):c.155A>G (p.Asn52Ser)
|
rs1581342223
|
|
|
NM_203403.2(LURAP1L):c.346C>T (p.Arg116Cys)
|
rs754557712
|
|
|
NM_207322.3(C2CD4A):c.284A>C (p.His95Pro)
|
rs1596557030
|
|
|
Single allele
|
|
|