|
NM_000791.4(DHFR):c.-416C>G
|
rs2001675
|
0.00949
|
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
|
NM_032221.5(CHD6):c.3296G>A (p.Arg1099Gln)
|
rs1465002801
|
0.00001
|
|
NC_000010.10:g.43611191_61663279inv
|
|
|
|
NC_000013.10:g.114819939_qterdelins[96729864_114814234inv;96735632_104289803]
|
|
|
|
NM_000038.6(APC):c.1682del (p.Lys561fs)
|
rs1554082118
|
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
|
NM_000038.6(APC):c.3956del (p.Pro1319fs)
|
rs1057517558
|
|
|
NM_000038.6(APC):c.847C>T (p.Arg283Ter)
|
rs786201856
|
|
|
NM_000051.4(ATM):c.1837_1839del (p.Val613del)
|
rs2135353566
|
|
|
NM_000059.4(BRCA2):c.3504G>T (p.Met1168Ile)
|
rs1555283267
|
|
|
NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg)
|
rs121913474
|
|
|
NM_000179.3(MSH6):c.3644T>A (p.Leu1215Ter)
|
rs2104526529
|
|
|
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser)
|
rs886039394
|
|
|
NM_000249.4(MLH1):c.884G>T (p.Ser295Ile)
|
rs63750144
|
|
|
NM_000489.6(ATRX):c.1558G>T (p.Val520Phe)
|
rs1287383551
|
|
|
NM_000489.6(ATRX):c.3904del (p.Arg1302fs)
|
rs2148497062
|
|
|
NM_000489.6(ATRX):c.4213A>G (p.Arg1405Gly)
|
rs1569535987
|
|
|
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter)
|
rs2148020083
|
|
|
NM_000489.6(ATRX):c.6440G>T (p.Ser2147Ile)
|
rs1569523183
|
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
|
NM_000546.6(TP53):c.856G>A (p.Glu286Lys)
|
rs786201059
|
|
|
NM_000546.6(TP53):c.919+1G>T
|
rs1131691039
|
|
|
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)
|
rs1555535032
|
|
|
NM_001123385.2(BCOR):c.398_399insAC (p.Ala134fs)
|
rs1555919960
|
|
|
NM_001123385.2(BCOR):c.4063G>T (p.Glu1355Ter)
|
rs780712297
|
|
|
NM_001123385.2(BCOR):c.4787_4802del (p.Gly1596fs)
|
rs1555913337
|
|
|
NM_001130823.3(DNMT1):c.1645-1G>T
|
rs1568234664
|
|
|
NM_001141969.2(DAXX):c.1178del (p.Lys393fs)
|
rs1359674497
|
|
|
NM_001141969.2(DAXX):c.329_330del (p.Leu109_Ser110insTer)
|
rs1554283140
|
|
|
NM_001141969.2(DAXX):c.801_824del (p.Arg269_Asn276del)
|
rs1554282803
|
|
|
NM_001141969.2(DAXX):c.850C>T (p.Pro284Ser)
|
rs1554282793
|
|
|
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs)
|
rs782297546
|
|
|
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)
|
rs104894261
|
|
|
NM_001370259.2(MEN1):c.245_259del (p.Asp82_Ile86del)
|
rs1555166508
|
|
|
NM_001370259.2(MEN1):c.783+1G>A
|
rs794728652
|
|
|
NM_001370259.2(MEN1):c.981_1006del (p.Tyr327_Glu336delinsTer)
|
rs1555165008
|
|
|
NM_001372327.1(SLC29A1):c.20C>T (p.Pro7Leu)
|
rs1582941569
|
|
|
NM_001374828.1(ARID1B):c.4453C>T (p.Gln1485Ter)
|
rs2128366503
|
|
|
NM_001386298.1(CIC):c.3017_3018insT (p.Gly1008fs)
|
rs1568503055
|
|
|
NM_001386298.1(CIC):c.3370C>T (p.Arg1124Trp)
|
rs1568504941
|
|
|
NM_002430.3(MN1):c.772_776del (p.His258fs)
|
rs1568986076
|
|
|
NM_002430.3(MN1):c.785del (p.Gly262fs)
|
rs1568986066
|
|
|
NM_003070.5(SMARCA2):c.3638G>C (p.Arg1213Pro)
|
rs1314729940
|
|
|
NM_003072.5(SMARCA4):c.276G>C (p.Gln92His)
|
rs1555752030
|
|
|
NM_003073.5(SMARCB1):c.110G>C (p.Arg37Pro)
|
rs398122368
|
|
|
NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter)
|
rs1565779530
|
|
|
NM_004656.4(BAP1):c.188C>G (p.Ser63Cys)
|
rs747311942
|
|
|
NM_004656.4(BAP1):c.374A>C (p.Glu125Ala)
|
rs1553645926
|
|
|
NM_004958.4(MTOR):c.6625C>G (p.Leu2209Val)
|
rs774204282
|
|
|
NM_004972.4(JAK2):c.2385G>T (p.Arg795Ser)
|
rs1819621092
|
|
|
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu)
|
rs121913240
|
|
|
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)
|
rs121913530
|
|
|
NM_004991.4(MECOM):c.2200C>T (p.Gln734Ter)
|
rs1553838272
|
|
|
NM_005228.5(EGFR):c.3055C>A (p.Pro1019Thr)
|
rs1562805765
|
|
|
NM_005228.5(EGFR):c.3056C>A (p.Pro1019Gln)
|
rs1562805773
|
|
|
NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys)
|
rs749415085
|
|
|
NM_006218.4(PIK3CA):c.2086G>A (p.Gly696Arg)
|
rs2108413471
|
|
|
NM_017617.5(NOTCH1):c.2825G>A (p.Cys942Tyr)
|
rs1554728658
|
|
|
NM_017617.5(NOTCH1):c.4045_4052del (p.Ala1349fs)
|
rs1554728034
|
|
|
NM_139276.3(STAT3):c.1467T>A (p.Asn489Lys)
|
rs1555564365
|
|
|
NM_152641.4(ARID2):c.2989C>T (p.Gln997Ter)
|
rs1555155110
|
|
|
NM_203500.2(KEAP1):c.700C>T (p.Arg234Trp)
|
rs1599484704
|
|
|
Single allele
|
|
|
|
dup(11)(q13.1q13.1)
|
|
|
|
inv(22)(q12.2q12.2)
|
|
|
|
t(12;16)(q13.13;p11.2)
|
|
|
|
t(17;19)(q25.1;p13.3)
|
|
|
|
t(5;22)(q31.2;q12.1)
|
|
|
|
t(6;9)(q23.3;p22.3)
|
|
|
|
t(8;9)(q13.1;p22.3)
|
|
|
|
t(8;9)(q24.22;q34.13)
|
|
|
|
t(X;8)(p22.13;q12.1)
|
|
|