NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)
|
rs80359505
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.3172A>T (p.Lys1058Ter)
|
rs730881521
|
|
NM_000059.4(BRCA2):c.3283C>T (p.Gln1095Ter)
|
rs397507662
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3915del (p.Phe1305fs)
|
rs397507698
|
|
NM_000059.4(BRCA2):c.5390del (p.Ala1797fs)
|
rs730882168
|
|
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
|
rs80358824
|
|
NM_000059.4(BRCA2):c.5952dup (p.Ser1985fs)
|
rs397507814
|
|
NM_000059.4(BRCA2):c.6202dup (p.Ile2068fs)
|
rs397507833
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
NM_000059.4(BRCA2):c.712G>T (p.Glu238Ter)
|
rs56383036
|
|
NM_000059.4(BRCA2):c.7266T>A (p.Cys2422Ter)
|
rs730882169
|
|
NM_000059.4(BRCA2):c.7846del (p.Ser2616fs)
|
rs397507940
|
|
NM_000059.4(BRCA2):c.8363G>A (p.Trp2788Ter)
|
rs80359080
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.9117+1G>A
|
rs81002802
|
|
NM_000500.9(CYP21A2):c.1272C>A (p.Cys424Ter)
|
rs1367112998
|
|
NM_000500.9(CYP21A2):c.1291G>A (p.Gly431Ser)
|
rs1582312633
|
|
NM_000500.9(CYP21A2):c.509G>A (p.Cys170Tyr)
|
rs1582304457
|
|
NM_000500.9(CYP21A2):c.525C>A (p.Tyr175Ter)
|
rs1582304536
|
|
NM_000527.5(LDLR):c.1586+1G>C
|
rs755389753
|
|
NM_000535.6:c.(988+1_989-1)_(1144+1_1145-1)del
|
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_001042492.3(NF1):c.1642-10A>G
|
rs1597706578
|
|
NM_001042492.3(NF1):c.1722-11T>G
|
rs2066961306
|
|
NM_001042492.3(NF1):c.2326-3T>G
|
rs876658946
|
|
NM_001042492.3(NF1):c.2326-6T>G
|
rs1597713670
|
|
NM_001042492.3(NF1):c.2851-6_2851-3del
|
rs1597716256
|
|
NM_001042492.3(NF1):c.289-6T>G
|
rs757074803
|
|
NM_001042492.3(NF1):c.3315-3C>G
|
rs752318318
|
|
NM_001042492.3(NF1):c.6428-3C>A
|
rs374014162
|
|
NM_001042492.3(NF1):c.6705-17G>A
|
rs1064795966
|
|
NM_001042492.3(NF1):c.6705-3C>A
|
rs1131691079
|
|
NM_001042492.3(NF1):c.6705-7_6705-6insAAAA
|
rs2069724056
|
|
NM_001042492.3(NF1):c.7063-4A>G
|
rs749805168
|
|
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg)
|
rs1057519577
|
|
NM_001733.7(C1R):c.1073G>T (p.Cys358Phe)
|
rs1057518645
|
|
NM_001733.7(C1R):c.1092G>C (p.Trp364Cys)
|
rs1057519578
|
|
NM_001733.7(C1R):c.1113C>G (p.Cys371Trp)
|
rs1057519579
|
|
NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle)
|
rs1057519580
|
|
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg)
|
rs1060499554
|
|
NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp)
|
rs1057519025
|
|
NM_001733.7(C1R):c.869A>G (p.Asp290Gly)
|
rs1057518643
|
|
NM_001733.7(C1R):c.890G>A (p.Gly297Asp)
|
rs1057519026
|
|
NM_001733.7(C1R):c.899T>C (p.Leu300Pro)
|
rs1057515579
|
|
NM_001733.7(C1R):c.902G>C (p.Arg301Pro)
|
rs760277934
|
|
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys)
|
rs1057519576
|
|
NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr)
|
rs1057518646
|
|
NM_001733.7(C1R):c.927C>G (p.Cys309Trp)
|
rs769707492
|
|
NM_001734.5(C1S):c.880T>C (p.Cys294Arg)
|
rs886040975
|
|
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu)
|
rs886040974
|
|
NM_007294.4(BRCA1):c.(5193+1_5194-1)_(5277+1_5278-1)del
|
|
|
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs)
|
rs80357516
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs)
|
rs80357507
|
|
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)
|
rs80357749
|
|
NM_007294.4(BRCA1):c.3398T>G (p.Leu1133Ter)
|
rs80356971
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
NM_007294.4(BRCA1):c.3511A>T (p.Lys1171Ter)
|
rs730882164
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.4113del (p.Cys1372fs)
|
rs80357861
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
NM_007294.4(BRCA1):c.4998C>A (p.Tyr1666Ter)
|
rs730882165
|
|
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)
|
rs730882166
|
|
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)
|
rs28897696
|
|
NM_007294.4(BRCA1):c.5167delinsTTT (p.Ile1723fs)
|
rs730882167
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter)
|
rs80357284
|
|
NM_007294.4(BRCA1):c.676del (p.Cys226fs)
|
rs80357941
|
|