NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00051
|
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile)
|
rs61749376
|
0.00048
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)
|
rs146347092
|
0.00026
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00017
|
NM_000558.5(HBA1):c.96-1G>A
|
rs34883113
|
0.00017
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00016
|
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)
|
rs61751286
|
0.00014
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)
|
rs375009082
|
0.00006
|
NM_032043.3(BRIP1):c.918+1G>A
|
rs587781655
|
0.00006
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_000016.6(ACADM):c.388-3T>G
|
rs764942250
|
0.00004
|
NM_000517.6(HBA2):c.69C>T (p.Gly23=)
|
rs63751457
|
0.00004
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)
|
rs778906552
|
0.00003
|
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro)
|
rs80359066
|
0.00003
|
NM_000518.5(HBB):c.-75G>C
|
rs63750400
|
0.00003
|
NM_000527.5(LDLR):c.1474G>C (p.Asp492His)
|
rs373646964
|
0.00003
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg)
|
rs763147599
|
0.00002
|
NM_000552.5(VWF):c.4378C>T (p.Leu1460Phe)
|
rs61750088
|
0.00002
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)
|
rs144575084
|
0.00002
|
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)
|
rs750621215
|
0.00002
|
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)
|
rs587782268
|
0.00002
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)
|
rs267606997
|
0.00002
|
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg)
|
rs747281324
|
0.00001
|
NM_000059.4(BRCA2):c.4037del (p.Thr1346fs)
|
rs1162394508
|
0.00001
|
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)
|
rs397507713
|
0.00001
|
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys)
|
rs431825358
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys)
|
rs80359064
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000143.4(FH):c.583A>G (p.Met195Val)
|
rs1553341364
|
0.00001
|
NM_000179.3(MSH6):c.3154G>T (p.Glu1052Ter)
|
rs765763906
|
0.00001
|
NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn)
|
rs587779272
|
0.00001
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)
|
rs63751596
|
0.00001
|
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys)
|
rs745721296
|
0.00001
|
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)
|
rs587781707
|
0.00001
|
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)
|
rs397508187
|
0.00001
|
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)
|
rs397508310
|
0.00001
|
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)
|
rs1554299737
|
0.00001
|
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro)
|
rs41529844
|
0.00001
|
NM_000518.5(HBB):c.-122T>A
|
rs1272414751
|
0.00001
|
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)
|
rs730882099
|
0.00001
|
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)
|
rs748554592
|
0.00001
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
0.00001
|
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)
|
rs730882106
|
0.00001
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)
|
rs577934998
|
0.00001
|
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)
|
rs730881915
|
0.00001
|
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)
|
rs188006077
|
0.00001
|
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)
|
rs1458321358
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.472C>T (p.Arg158Cys)
|
rs587780068
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000552.5(VWF):c.3390C>T (p.Cys1130=)
|
rs1591865617
|
0.00001
|
NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys)
|
rs373787920
|
0.00001
|
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser)
|
rs61749398
|
0.00001
|
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr)
|
rs61750084
|
0.00001
|
NM_001048174.2(MUTYH):c.606G>A (p.Gln202=)
|
rs199989617
|
0.00001
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)
|
rs771537277
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_002439.5(MSH3):c.1144A>T (p.Lys382Ter)
|
rs139170496
|
0.00001
|
NM_002485.5(NBN):c.2234+2T>G
|
rs142301194
|
0.00001
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
NM_004360.5(CDH1):c.1137+1G>A
|
rs876660771
|
0.00001
|
NM_004360.5(CDH1):c.1566-1G>C
|
rs113583899
|
0.00001
|
NM_004360.5(CDH1):c.731A>G (p.Asp244Gly)
|
rs1064794231
|
0.00001
|
NM_004655.4(AXIN2):c.1908-2A>G
|
rs978837790
|
0.00001
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)
|
rs80187739
|
0.00001
|
NM_007294.4(BRCA1):c.5406+5G>T
|
rs80358073
|
0.00001
|
NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter)
|
rs1156577591
|
0.00001
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
GRCh37/hg19 10p15.3(chr10:100026-190878)x1
|
|
|
GRCh37/hg19 10q11.22-11.23(chr10:46225364-51874356)x1
|
|
|
GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1
|
|
|
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51822386)x3
|
|
|
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51874356)x1
|
|
|
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1
|
|
|
GRCh37/hg19 10q11.22-11.23(chr10:47132305-51627470)x1
|
|
|
GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1
|
|
|
GRCh37/hg19 10q11.22-11.23(chr10:49378356-51134640)x3
|
|
|
GRCh37/hg19 10q22.2(chr10:76574136-76627410)x1
|
|
|
GRCh37/hg19 10q22.3-23.2(chr10:81644079-88973306)x3
|
|
|
GRCh37/hg19 10q23.2(chr10:88615516-88980546)x1
|
|
|
GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1
|
|
|
GRCh37/hg19 11p11.2(chr11:45995260-46536343)x1
|
|
|
GRCh37/hg19 11p13(chr11:31415634-31790329)x1
|
|
|
GRCh37/hg19 11p13(chr11:31466566-31714871)x1
|
|
|
GRCh37/hg19 11p13(chr11:31501986-31578568)x1
|
|
|
GRCh37/hg19 11p15.5(chr11:1719815-2321109)x3
|
|
|
GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3
|
|
|
GRCh37/hg19 11q13.3-13.4(chr11:70390788-70807254)x1
|
|
|
GRCh37/hg19 11q13.4(chr11:70517505-70807254)x1
|
|
|
GRCh37/hg19 11q13.4(chr11:70569854-70873024)x1
|
|
|
GRCh37/hg19 11q22.1-22.3(chr11:98770072-104602846)x1
|
|
|
GRCh37/hg19 11q22.2-22.3(chr11:102578709-107230611)x1
|
|
|
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3
|
|
|
GRCh37/hg19 11q24.3-25(chr11:130128323-134938470)x1
|
|
|
GRCh37/hg19 11q25(chr11:130935635-134938470)x1
|
|
|
GRCh37/hg19 12p11.21(chr12:32936969-33065454)x1
|
|
|
GRCh37/hg19 12p11.23-11.22(chr12:27514172-29338877)x4
|
|
|
GRCh37/hg19 12p12.1(chr12:23753715-23776824)x1
|
|
|
GRCh37/hg19 12p12.1(chr12:23961188-24011932)x1
|
|
|
GRCh37/hg19 12p12.1(chr12:24347113-24471815)x1
|
|
|
GRCh37/hg19 12p12.1(chr12:24351933-24436553)x1
|
|
|
GRCh37/hg19 12p13.32-13.31(chr12:4305058-6066141)x1
|
|
|
GRCh37/hg19 12p13.33(chr12:310521-1550563)x1
|
|
|
GRCh37/hg19 12q12(chr12:46141773-46375955)x1
|
|
|
GRCh37/hg19 12q13.13(chr12:53614278-53971802)x1
|
|
|
GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1
|
|
|
GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1
|
|
|
GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3
|
|
|
GRCh37/hg19 12q24.21(chr12:116417092-116639877)x3
|
|
|
GRCh37/hg19 12q24.33(chr12:130973400-133777902)x3
|
|
|
GRCh37/hg19 13q12.11(chr13:20605484-21759494)x1
|
|
|
GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3
|
|
|
GRCh37/hg19 13q13.3(chr13:35863322-35911764)x1
|
|
|
GRCh37/hg19 13q13.3(chr13:35951031-36115573)x1
|
|
|
GRCh37/hg19 13q13.3(chr13:36035608-36058874)x1
|
|
|
GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3
|
|
|
GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3
|
|
|
GRCh37/hg19 13q31.3(chr13:91460305-92069153)x3
|
|
|
GRCh37/hg19 13q33.1(chr13:101956482-102666953)x1
|
|
|
GRCh37/hg19 13q33.2-33.3(chr13:106041961-107588983)x1
|
|
|
GRCh37/hg19 13q34(chr13:112069981-115107733)x3
|
|
|
GRCh37/hg19 13q34(chr13:113626234-115107733)x3
|
|
|
GRCh37/hg19 14q11.2(chr14:21159605-22252320)x4
|
|
|
GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1
|
|
|
GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1
|
|
|
GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3
|
|
|
GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3
|
|
|
GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3
|
|
|
GRCh37/hg19 14q32.2(chr14:100655021-100742092)x1
|
|
|
GRCh37/hg19 14q32.2-32.31(chr14:101319804-101477345)x1
|
|
|
GRCh37/hg19 15q11.2(chr15:22770421-23082442)x1
|
|
|
GRCh37/hg19 15q11.2(chr15:22770422-23620154)x1
|
|
|
GRCh37/hg19 15q11.2(chr15:22770422-24058623)x3
|
|
|
GRCh37/hg19 15q11.2(chr15:22811927-23082442)x1
|
|
|
GRCh37/hg19 15q11.2(chr15:25583840-25611877)x1
|
|
|
GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3
|
|
|
GRCh37/hg19 15q13.3-14(chr15:32446829-34868996)x1
|
|
|
GRCh37/hg19 15q15.1(chr15:41171132-41262130)x1
|
|
|
GRCh37/hg19 15q15.2-15.3(chr15:43135272-43744542)x1
|
|
|
GRCh37/hg19 15q21.1(chr15:48854702-49041439)x1
|
|
|
GRCh37/hg19 15q21.2-21.3(chr15:51792729-55134365)x1
|
|
|
GRCh37/hg19 15q21.3(chr15:57507433-57642065)x1
|
|
|
GRCh37/hg19 15q22.2(chr15:60688155-60888244)x1
|
|
|
GRCh37/hg19 15q23(chr15:67533571-67585461)x1
|
|
|
GRCh37/hg19 15q23-24.1(chr15:70268937-74098081)x1
|
|
|
GRCh37/hg19 15q25.2-25.3(chr15:84827469-85786847)x1
|
|
|
GRCh37/hg19 15q25.2-25.3(chr15:84928663-85786847)x1
|
|
|
GRCh37/hg19 15q26.2-26.3(chr15:98144229-99857338)x1
|
|
|
GRCh37/hg19 15q26.3(chr15:98982492-99411100)x1
|
|
|
GRCh37/hg19 15q26.3(chr15:99467707-99507214)x1
|
|
|
GRCh37/hg19 15q26.3(chr15:99490397-99521812)x1
|
|
|
GRCh37/hg19 15q26.3(chr15:99928623-102429112)x3
|
|
|
GRCh37/hg19 16p13.11(chr16:14900182-16529801)x3
|
|
|
GRCh37/hg19 16p13.11(chr16:14925995-16309165)x3
|
|
|
GRCh37/hg19 16p13.11(chr16:14927857-15375547)x3
|
|
|
GRCh37/hg19 16p13.11(chr16:14929038-16309046)x3
|
|
|
GRCh37/hg19 16p13.11(chr16:15054346-16309165)x3
|
|
|
GRCh37/hg19 16p13.11(chr16:15058820-16328840)x3
|
|
|
GRCh37/hg19 16p13.11(chr16:15127985-16527476)x3
|
|
|
GRCh37/hg19 16p13.11(chr16:15417030-16544419)x3
|
|
|
GRCh37/hg19 16p13.11(chr16:15423704-16327961)x3
|
|
|
GRCh37/hg19 16p13.11(chr16:15481920-16516109)x3
|
|
|
GRCh37/hg19 16p13.11(chr16:15481921-16330672)x3
|
|
|
GRCh37/hg19 16p13.11(chr16:15507899-16388359)x3
|
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GRCh37/hg19 16p13.11(chr16:15509407-15858075)x3
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GRCh37/hg19 16p13.11(chr16:15509407-16309046)x3
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GRCh37/hg19 16p13.11(chr16:15509407-16319630)x3
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GRCh37/hg19 16p13.11(chr16:15509407-16330477)x3
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GRCh37/hg19 16p13.11(chr16:15509407-16330672)x3
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GRCh37/hg19 16p13.11(chr16:15509407-16527476)x3
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GRCh37/hg19 16p13.11(chr16:15509592-16309165)x3
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GRCh37/hg19 16p13.11(chr16:15509729-16255865)x3
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GRCh37/hg19 16p13.11(chr16:15509824-16328781)x3
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GRCh37/hg19 16p13.11(chr16:16099145-16498084)x0
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GRCh37/hg19 16p13.11-12.3(chr16:14900072-16837613)x3
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GRCh37/hg19 16p13.11-12.3(chr16:14900168-16869135)x3
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GRCh37/hg19 16p13.11-12.3(chr16:15058821-16837613)x3
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GRCh37/hg19 16p13.11-12.3(chr16:15193982-18770833)x3
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GRCh37/hg19 16p13.11-12.3(chr16:15316618-18164698)x3
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GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3
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GRCh37/hg19 16p13.11-12.3(chr16:15316939-18770833)x3
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GRCh37/hg19 16p13.11-12.3(chr16:15481920-16837613)x3
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GRCh37/hg19 16p13.11-12.3(chr16:15481920-18164698)x3
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GRCh37/hg19 16p13.11-12.3(chr16:15509406-18181971)x3
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GRCh37/hg19 16p13.11-12.3(chr16:15509407-18779589)x3
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GRCh37/hg19 16p13.11-12.3(chr16:15509592-16873547)x3
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GRCh37/hg19 16p13.12-12.3(chr16:14365745-17052798)x3
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GRCh37/hg19 16p13.2(chr16:9890287-10086117)x3
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GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3
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GRCh37/hg19 16p13.3(chr16:2106895-2227470)x1
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GRCh37/hg19 16p13.3(chr16:2480793-2590012)x1
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GRCh37/hg19 16p13.3(chr16:3772570-4156857)x3
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GRCh37/hg19 16p13.3(chr16:3792951-4274168)x3
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GRCh37/hg19 16q22.1(chr16:67629575-67812055)x1
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GRCh37/hg19 16q22.1(chr16:68572832-68817937)x1
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GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1
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GRCh37/hg19 16q22.2-22.3(chr16:71561717-73724195)x1
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GRCh37/hg19 16q23.2-23.3(chr16:80476611-82397606)x1
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GRCh37/hg19 16q23.2-23.3(chr16:80483625-82044152)x1
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GRCh37/hg19 16q24.3(chr16:89443367-89490401)x1
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GRCh37/hg19 16q24.3(chr16:89481006-89509853)x1
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GRCh37/hg19 16q24.3(chr16:89524349-89561269)x1
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GRCh37/hg19 16q24.3(chr16:89545311-89568479)x1
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GRCh37/hg19 17p11.2(chr17:17614338-17911166)x3
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GRCh37/hg19 17p13.3(chr17:1070609-1281546)x3
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GRCh37/hg19 17p13.3(chr17:1121817-1277056)x3
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GRCh37/hg19 17p13.3(chr17:1225474-2201587)x1
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GRCh37/hg19 17q12(chr17:36067413-36410559)x3
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GRCh37/hg19 17q21.31(chr17:44135737-44212416)x1
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GRCh37/hg19 17q22(chr17:54664412-54705223)x1
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GRCh37/hg19 17q23.1(chr17:57616400-57986918)x1
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GRCh37/hg19 17q23.2(chr17:58388728-60486746)x1
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GRCh37/hg19 17q24.2(chr17:65289140-65422972)x1
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GRCh37/hg19 17q24.3(chr17:68056381-68268736)x1
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GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3
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GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1
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GRCh37/hg19 18q12.1(chr18:29524181-29617255)x1
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GRCh37/hg19 18q21.2(chr18:53061085-53143573)x1
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GRCh37/hg19 18q21.2(chr18:53100586-53238245)x1
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GRCh37/hg19 18q21.32(chr18:57894993-58039760)x1
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GRCh37/hg19 18q22.1-22.2(chr18:64396295-67913141)x1
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GRCh37/hg19 18q22.1-22.3(chr18:63585740-70885038)x3
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GRCh37/hg19 18q22.1-22.3(chr18:65736299-69297115)x1
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GRCh37/hg19 18q22.1-22.3(chr18:66179104-68793656)x1
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GRCh37/hg19 18q22.1-23(chr18:63747519-78014123)x3
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GRCh37/hg19 18q23(chr18:73214538-78014123)x1
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GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3
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GRCh37/hg19 19p13.2(chr19:13427805-13682946)x1
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GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3
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GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3
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GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3
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GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1
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GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1
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GRCh37/hg19 1p22.3(chr1:85667594-85875622)x3
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GRCh37/hg19 1p31.1(chr1:72103442-77186974)x3
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GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3
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GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3
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GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4
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GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1
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GRCh37/hg19 1p36.23(chr1:7266936-7408418)x3
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GRCh37/hg19 1p36.23-36.22(chr1:8473813-9852687)x1
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GRCh37/hg19 1p36.33(chr1:1129318-2040693)x1
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GRCh37/hg19 1p36.33(chr1:1717581-1910879)x1
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GRCh37/hg19 1p36.33(chr1:849466-1806659)x1
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GRCh37/hg19 1p36.33-36.32(chr1:1182855-2431925)x1
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GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1
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GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3
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GRCh37/hg19 1q23.3(chr1:161924068-164761399)x1
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GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1
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GRCh37/hg19 1q31.1(chr1:186912015-187132574)x3
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GRCh37/hg19 1q31.1-32.1(chr1:189633885-199854163)x1
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GRCh37/hg19 1q31.3(chr1:195089818-197443021)x1
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GRCh37/hg19 1q42.13(chr1:227696109-229152386)x3
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GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3
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GRCh37/hg19 1q43(chr1:240958055-243698867)x3
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GRCh37/hg19 1q43-44(chr1:243347610-243871457)x1
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GRCh37/hg19 1q44(chr1:246853199-249181899)x1
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GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3
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GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3
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GRCh37/hg19 20p13(chr20:61568-2010334)x1
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GRCh37/hg19 20p13(chr20:61568-677437)x1
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GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3
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GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3
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GRCh37/hg19 20q12(chr20:39294079-39611802)x1
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GRCh37/hg19 20q13.13(chr20:49447090-49510400)x1
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GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3
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GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1
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GRCh37/hg19 21q22.3(chr21:46749869-48097372)x1
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GRCh37/hg19 21q22.3(chr21:46797010-46915065)x1
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GRCh37/hg19 22q11.1(chr22:16888899-17536145)x4
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GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1
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GRCh37/hg19 22q11.21(chr22:20716877-21465659)x1
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GRCh37/hg19 22q11.21(chr22:20725309-21804563)x1
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GRCh37/hg19 22q11.21(chr22:20725318-21800797)x1
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GRCh37/hg19 22q11.21(chr22:20728957-21800797)x1
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GRCh37/hg19 22q11.21(chr22:21049799-21465662)x1
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GRCh37/hg19 22q11.21(chr22:21059669-21804716)x1
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GRCh37/hg19 22q11.21(chr22:21075675-21465662)x1
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GRCh37/hg19 22q11.21(chr22:21092648-21465662)x1
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GRCh37/hg19 22q11.21(chr22:21188487-21804597)x1
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GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3
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GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3
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GRCh37/hg19 22q11.22-11.23(chr22:22953515-24995256)x3
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GRCh37/hg19 22q11.22-11.23(chr22:22997802-23650873)x1
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GRCh37/hg19 22q11.22-11.23(chr22:22997929-23650871)x1
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GRCh37/hg19 22q11.23(chr22:23650201-24992266)x3
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GRCh37/hg19 22q11.23(chr22:23650871-25002659)x3
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GRCh37/hg19 22q11.23(chr22:23650872-25002483)x3
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GRCh37/hg19 22q12.1(chr22:28325271-29121061)x1
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GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3
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GRCh37/hg19 22q13.33(chr22:51157524-51183840)x1
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GRCh37/hg19 2p13.2(chr2:72503642-72716038)x1
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GRCh37/hg19 2p16.1(chr2:60719185-61268266)x1
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GRCh37/hg19 2p16.1-15(chr2:60680467-61527143)x3
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GRCh37/hg19 2p16.3(chr2:50743869-50803486)x1
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GRCh37/hg19 2p16.3(chr2:50749598-50905296)x1
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GRCh37/hg19 2p16.3(chr2:50927073-51249333)x1
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GRCh37/hg19 2p16.3(chr2:51125057-51803361)x1
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GRCh37/hg19 2p16.3(chr2:51183215-51263065)x1
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GRCh37/hg19 2p16.3(chr2:51183370-51370150)x1
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GRCh37/hg19 2p16.3(chr2:51216517-51272118)x1
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GRCh37/hg19 2p16.3(chr2:51248751-51540487)x1
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GRCh37/hg19 2p25.2(chr2:5810742-5866838)x1
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GRCh37/hg19 2p25.3(chr2:1252376-1865090)x3
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GRCh37/hg19 2p25.3(chr2:1544765-1959942)x3
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GRCh37/hg19 2p25.3(chr2:1611691-1861548)x3
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GRCh37/hg19 2p25.3(chr2:1734538-2303645)x3
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GRCh37/hg19 2p25.3(chr2:1750599-2049792)x3
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GRCh37/hg19 2p25.3(chr2:1900809-2280568)x3
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GRCh37/hg19 2p25.3(chr2:2148352-2203775)x1
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GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3
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GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3
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GRCh37/hg19 2q11.1-11.2(chr2:96712139-98254657)x1
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GRCh37/hg19 2q11.1-11.2(chr2:96735977-98258828)x1
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GRCh37/hg19 2q12.1-12.2(chr2:104995799-106679055)x1
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GRCh37/hg19 2q12.2-12.3(chr2:107020782-110068385)x1
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GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1
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GRCh37/hg19 2q12.3-13(chr2:108499809-110504318)x1
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GRCh37/hg19 2q13(chr2:111365996-113111856)x3
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GRCh37/hg19 2q13(chr2:111388618-113127751)x3
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GRCh37/hg19 2q13(chr2:111397786-113111856)x3
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GRCh37/hg19 2q21.1(chr2:130874475-131765997)x1
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GRCh37/hg19 2q23.1(chr2:148704099-149545055)x3
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GRCh37/hg19 2q23.1(chr2:148789732-148965615)x1
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GRCh37/hg19 2q23.1(chr2:148815797-148997388)x3
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GRCh37/hg19 2q23.2-23.3(chr2:150134077-154848282)x1
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GRCh37/hg19 2q24.1(chr2:156696086-159450561)x1
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GRCh37/hg19 2q24.1(chr2:156996368-157372032)x1
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GRCh37/hg19 2q24.1(chr2:157117939-158422574)x1
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GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3
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GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1
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GRCh37/hg19 2q36.2-36.3(chr2:226027074-229110812)x1
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GRCh37/hg19 2q37.3(chr2:239896860-240221984)x1
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GRCh37/hg19 2q37.3(chr2:241880799-242783384)x1
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GRCh37/hg19 2q37.3(chr2:242011633-243199373)x1
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GRCh37/hg19 2q37.3(chr2:242177268-242478356)x1
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GRCh37/hg19 2q37.3(chr2:242340265-242783384)x1
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GRCh37/hg19 3p26.1(chr3:5163403-7918601)x1
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GRCh37/hg19 3p26.2-26.1(chr3:3718732-5377364)x1
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GRCh37/hg19 3p26.3(chr3:115780-320034)x1
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GRCh37/hg19 3p26.3(chr3:242240-556260)x1
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GRCh37/hg19 3p26.3(chr3:61891-1717877)x1
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GRCh37/hg19 3q11.1-11.2(chr3:93519465-94372131)x1
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GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1
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GRCh37/hg19 3q22.3(chr3:136169095-136305476)x1
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GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1
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GRCh37/hg19 3q26.2(chr3:168665376-168815209)x1
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GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3
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GRCh37/hg19 3q27.1-27.3(chr3:183789584-186034649)x1
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GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1
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GRCh37/hg19 4p15.1(chr4:28607146-32017466)x1
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GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1
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GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)x3
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GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1
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GRCh37/hg19 4p16.3(chr4:1770486-2303110)x3
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GRCh37/hg19 4p16.3(chr4:1784694-1919793)x1
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GRCh37/hg19 4p16.3(chr4:963688-2913553)x3
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GRCh37/hg19 4q21.22(chr4:83026373-83367140)x1
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GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1
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GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3
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GRCh37/hg19 4q31.23(chr4:148916436-149103774)x1
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GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1
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GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1
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GRCh37/hg19 4q33-35.1(chr4:171476330-184998011)x1
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GRCh37/hg19 4q35.1-35.2(chr4:186555741-187379745)x1
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GRCh37/hg19 5p13.2(chr5:36874777-36958323)x1
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GRCh37/hg19 5p15.2(chr5:11134771-11170014)x1
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GRCh37/hg19 5p15.2(chr5:11142662-11208440)x1
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GRCh37/hg19 5p15.2(chr5:11383308-11414552)x1
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GRCh37/hg19 5p15.2(chr5:13167440-14733954)x1
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GRCh37/hg19 5q12.3-13.2(chr5:65315606-68755816)x1
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GRCh37/hg19 5q14.3(chr5:88041931-88078617)x1
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GRCh37/hg19 5q14.3-15(chr5:87399001-92675748)x3
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GRCh37/hg19 5q23.1-23.2(chr5:119452524-121673870)x1
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GRCh37/hg19 5q33.3-34(chr5:159714197-161313217)x1
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GRCh37/hg19 5q34-35.1(chr5:166378793-170174830)x1
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GRCh37/hg19 5q35.2-35.3(chr5:176497464-177776599)x3
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GRCh37/hg19 5q35.2-35.3(chr5:176516440-177773252)x3
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GRCh37/hg19 5q35.2-35.3(chr5:176547912-177126647)x3
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|
GRCh37/hg19 6p21.1(chr6:45284656-46157024)x3
|
|
|
GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3
|
|
|
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3
|
|
|
GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1
|
|
|
GRCh37/hg19 6p23-22.3(chr6:13891547-15718444)x1
|
|
|
GRCh37/hg19 6p25.3(chr6:1286450-1645873)x3
|
|
|
GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3
|
|
|
GRCh37/hg19 6q16.1-16.2(chr6:97904220-99964434)x1
|
|
|
GRCh37/hg19 6q16.1-16.2(chr6:98870687-100270433)x1
|
|
|
GRCh37/hg19 6q22.1-22.31(chr6:117441803-123349672)x3
|
|
|
GRCh37/hg19 6q25.1-25.2(chr6:151472860-154839846)x3
|
|
|
GRCh37/hg19 6q25.3(chr6:156234522-157126587)x1
|
|
|
GRCh37/hg19 6q25.3(chr6:157201571-157340945)x1
|
|
|
GRCh37/hg19 6q25.3(chr6:157402040-157432660)x1
|
|
|
GRCh37/hg19 6q25.3(chr6:157431664-157482864)x1
|
|
|
GRCh37/hg19 6q27(chr6:166083476-170919482)x3
|
|
|
GRCh37/hg19 6q27(chr6:170331096-170919482)x1
|
|
|
GRCh37/hg19 7p13(chr7:45057188-45135918)x1
|
|
|
GRCh37/hg19 7p14.1(chr7:42156923-42225427)x1
|
|
|
GRCh37/hg19 7p14.3(chr7:29758030-31318843)x3
|
|
|
GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3
|
|
|
GRCh37/hg19 7p22.1(chr7:5606650-5974130)x3
|
|
|
GRCh37/hg19 7p22.3(chr7:2219184-2612472)x1
|
|
|
GRCh37/hg19 7q11.22(chr7:69697230-69978519)x1
|
|
|
GRCh37/hg19 7q11.22(chr7:70123570-70236724)x1
|
|
|
GRCh37/hg19 7q11.23(chr7:75082354-76007380)x1
|
|
|
GRCh37/hg19 7q11.23(chr7:75085014-76007380)x1
|
|
|
GRCh37/hg19 7q21.12(chr7:86907024-87154688)x1
|
|
|
GRCh37/hg19 7q22.1(chr7:101652458-101761929)x1
|
|
|
GRCh37/hg19 7q22.1-22.3(chr7:102910570-105104800)x1
|
|
|
GRCh37/hg19 7q31.1(chr7:109594999-113885203)x3
|
|
|
GRCh37/hg19 7q31.1(chr7:113593905-113735098)x1
|
|
|
GRCh37/hg19 7q31.2-31.31(chr7:115520087-118098306)x1
|
|
|
GRCh37/hg19 7q31.32(chr7:122244359-122274997)x1
|
|
|
GRCh37/hg19 7q36.1-36.3(chr7:152578849-156183328)x3
|
|
|
GRCh37/hg19 8p11.21(chr8:42301152-42354257)x1
|
|
|
GRCh37/hg19 8p23.1(chr8:6999219-8881836)x3
|
|
|
GRCh37/hg19 8p23.1(chr8:9952770-10603276)x3
|
|
|
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3
|
|
|
GRCh37/hg19 8q12.1(chr8:57048524-58117681)x1
|
|
|
GRCh37/hg19 8q13.3(chr8:71816154-72197709)x1
|
|
|
GRCh37/hg19 8q22.1(chr8:95803280-97802022)x3
|
|
|
GRCh37/hg19 8q22.1(chr8:96646399-98973327)x3
|
|
|
GRCh37/hg19 8q22.3(chr8:102584167-104236192)x1
|
|
|
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3
|
|
|
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3
|
|
|
GRCh37/hg19 9p24.3(chr9:203861-378086)x1
|
|
|
GRCh37/hg19 9p24.3(chr9:203861-525036)x1
|
|
|
GRCh37/hg19 9p24.3(chr9:341088-539781)x3
|
|
|
GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4
|
|
|
GRCh37/hg19 9q21.13(chr9:77237003-77546297)x1
|
|
|
GRCh37/hg19 9q21.33-22.2(chr9:90031614-93173691)x1
|
|
|
GRCh37/hg19 9q21.33-22.31(chr9:90002910-94567835)x3
|
|
|
GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)x3
|
|
|
GRCh37/hg19 9q34.3(chr9:140573688-140685407)x3
|
|
|
GRCh37/hg19 9q34.3(chr9:140688612-140781524)x1
|
|
|
GRCh37/hg19 Xp11.22(chrX:50394843-50659280)x2
|
|
|
GRCh37/hg19 Xp11.22-q11.2(chrX:53731940-63932866)x3
|
|
|
GRCh37/hg19 Xp21.1(chrX:31855685-32248817)x3
|
|
|
GRCh37/hg19 Xp21.1(chrX:32769117-32806554)x0
|
|
|
GRCh37/hg19 Xp21.2(chrX:29368279-29575090)x2
|
|
|
GRCh37/hg19 Xp21.3-21.2(chrX:29155819-29355225)x2
|
|
|
GRCh37/hg19 Xp22.11-21.3(chrX:24826270-25542137)x3
|
|
|
GRCh37/hg19 Xp22.11-21.3(chrX:24860361-25221642)x3
|
|
|
GRCh37/hg19 Xp22.12(chrX:20195835-20727041)x2
|
|
|
GRCh37/hg19 Xp22.13(chrX:18235875-18523090)x1
|
|
|
GRCh37/hg19 Xp22.13(chrX:18275593-18653790)x1
|
|
|
GRCh37/hg19 Xp22.2(chrX:10381839-10487986)x2
|
|
|
GRCh37/hg19 Xp22.2(chrX:10478359-15357092)x3
|
|
|
GRCh37/hg19 Xp22.32(chrX:5912902-5994585)x1
|
|
|
GRCh37/hg19 Xp22.32-22.31(chrX:5871585-6074724)x0
|
|
|
GRCh37/hg19 Xp22.33-22.2(chrX:1932788-9676331)x1
|
|
|
GRCh37/hg19 Xp22.33-22.31(chrX:3185613-6333434)x1
|
|
|
GRCh37/hg19 Xp22.33-22.31(chrX:3649821-6645906)x0
|
|
|
GRCh37/hg19 Xq11.2(chrX:63482413-64425063)x1
|
|
|
GRCh37/hg19 Xq12-13.1(chrX:67637833-68628411)x3
|
|
|
GRCh37/hg19 Xq13.2-13.3(chrX:73321053-74511346)x2
|
|
|
GRCh37/hg19 Xq21.1(chrX:76820808-78113526)x3
|
|
|
GRCh37/hg19 Xq21.1-21.2(chrX:84343474-84990478)x0
|
|
|
GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1
|
|
|
GRCh37/hg19 Xq25(chrX:122631173-123250498)x2
|
|
|
GRCh37/hg19 Xq25(chrX:122663227-123390103)x2
|
|
|
GRCh37/hg19 Xq25(chrX:122773699-123323939)x2
|
|
|
GRCh37/hg19 Xq27.3(chrX:146717400-147000407)x1
|
|
|
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3
|
|
|
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2
|
|
|
GRCh37/hg19 Xq28(chrX:153322172-153624604)x2
|
|
|
GRCh37/hg19 Xq28(chrX:154110363-154417230)x2
|
|
|
GRCh37/hg19 Xq28(chrX:154252722-154343784)x0
|
|
|
GRCh37/hg19 Xq28(chrX:154418280-154565718)x3
|
|
|
GRCh37/hg19 Xq28(chrX:154502832-154633634)x4
|
|
|
GRCh37/hg19 Xq28(chrX:154697070-155233731)x0
|
|
|
NM_000016.6(ACADM):c.224del (p.Val75fs)
|
rs1057516480
|
|
NM_000038.6(APC):c.1240del (p.Arg414fs)
|
rs1554080082
|
|
NM_000038.6(APC):c.135+1G>T
|
rs750508765
|
|
NM_000038.6(APC):c.1548+2T>C
|
rs1057517561
|
|
NM_000038.6(APC):c.1626_1626+6del
|
rs1554081930
|
|
NM_000038.6(APC):c.1643dup (p.Leu548fs)
|
rs1554082091
|
|
NM_000038.6(APC):c.1744-2A>T
|
rs587783035
|
|
NM_000038.6(APC):c.1951dup (p.Asp651fs)
|
rs1554083255
|
|
NM_000038.6(APC):c.2454del (p.Asn818fs)
|
rs2149869903
|
|
NM_000038.6(APC):c.2939_2940del (p.Lys980fs)
|
rs1580629061
|
|
NM_000038.6(APC):c.298del (p.Glu100fs)
|
rs1064794224
|
|
NM_000038.6(APC):c.3793_3794insCTT (p.Glu1265delinsAlaTer)
|
rs1580640215
|
|
NM_000038.6(APC):c.3921_3924del (p.Ile1307fs)
|
rs863224457
|
|
NM_000038.6(APC):c.4260dup (p.Ser1421fs)
|
rs1554085679
|
|
NM_000038.6(APC):c.5570C>A (p.Ser1857Ter)
|
rs1561601114
|
|
NM_000038.6(APC):c.6059_6062del (p.Cys2020fs)
|
rs876660174
|
|
NM_000038.6(APC):c.6542_6545del (p.Ile2181fs)
|
rs1554087515
|
|
NM_000038.6(APC):c.6610C>T (p.Arg2204Ter)
|
rs752654519
|
|
NM_000038.6(APC):c.6976C>T (p.Arg2326Ter)
|
rs1060503355
|
|
NM_000038.6(APC):c.7477_7478del (p.Leu2493fs)
|
rs1554088391
|
|
NM_000038.6(APC):c.935dup (p.Glu313fs)
|
rs587781451
|
|
NM_000057.4(BLM):c.3646A>T (p.Lys1216Ter)
|
rs2151194897
|
|
NM_000059.3(BRCA2):c.81_83delinsTAAGACT (p.Ser28fs)
|
rs879255300
|
|
NM_000059.3(BRCA2):c.8332_8487del
|
|
|
NM_000059.4(BRCA2):c.-39-2A>G
|
rs1555280053
|
|
NM_000059.4(BRCA2):c.1208dup (p.Asn404fs)
|
rs2137468789
|
|
NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs)
|
rs483353112
|
|
NM_000059.4(BRCA2):c.2543del (p.Lys848fs)
|
rs2072459783
|
|
NM_000059.4(BRCA2):c.2590C>T (p.Gln864Ter)
|
rs1060502414
|
|
NM_000059.4(BRCA2):c.2689G>T (p.Glu897Ter)
|
rs979372317
|
|
NM_000059.4(BRCA2):c.2722G>T (p.Glu908Ter)
|
rs2137489223
|
|
NM_000059.4(BRCA2):c.2801del (p.Gly934fs)
|
rs2137490061
|
|
NM_000059.4(BRCA2):c.2860G>T (p.Glu954Ter)
|
rs1555282911
|
|
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer)
|
rs876661270
|
|
NM_000059.4(BRCA2):c.316+5G>A
|
rs81002840
|
|
NM_000059.4(BRCA2):c.3174dup (p.Leu1059fs)
|
rs1555283079
|
|
NM_000059.4(BRCA2):c.3187_3188del (p.Gln1063fs)
|
rs2137494105
|
|
NM_000059.4(BRCA2):c.3201del (p.Val1068fs)
|
rs864622672
|
|
NM_000059.4(BRCA2):c.3204_3207del (p.Ser1069fs)
|
rs1555283099
|
|
NM_000059.4(BRCA2):c.3262_3263del (p.Pro1088fs)
|
rs80359379
|
|
NM_000059.4(BRCA2):c.3375del (p.Phe1125fs)
|
|
|
NM_000059.4(BRCA2):c.3376G>T (p.Glu1126Ter)
|
rs1555283206
|
|
NM_000059.4(BRCA2):c.3401del (p.Ser1134fs)
|
rs1555283219
|
|
NM_000059.4(BRCA2):c.3600T>A (p.Cys1200Ter)
|
rs786203359
|
|
NM_000059.4(BRCA2):c.3723del (p.Phe1241fs)
|
rs886040491
|
|
NM_000059.4(BRCA2):c.4092_4093insAA (p.Cys1365fs)
|
rs876658329
|
|
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile)
|
rs397507713
|
|
NM_000059.4(BRCA2):c.4322_4323del (p.Glu1441fs)
|
rs1593902043
|
|
NM_000059.4(BRCA2):c.4333_4337del (p.Lys1445fs)
|
rs1566230089
|
|
NM_000059.4(BRCA2):c.4376del (p.Asn1459fs)
|
rs1555283752
|
|
NM_000059.4(BRCA2):c.4544dup (p.Ile1516fs)
|
rs397507725
|
|
NM_000059.4(BRCA2):c.4593_4594del (p.Lys1531fs)
|
rs2072508654
|
|
NM_000059.4(BRCA2):c.4647del (p.Glu1550fs)
|
rs1593902999
|
|
NM_000059.4(BRCA2):c.4707C>A (p.Tyr1569Ter)
|
rs878853585
|
|
NM_000059.4(BRCA2):c.4749del (p.Ile1583fs)
|
rs1555283928
|
|
NM_000059.4(BRCA2):c.475G>A (p.Val159Met)
|
rs80358702
|
|
NM_000059.4(BRCA2):c.476-4_476-1delinsT
|
rs587782880
|
|
NM_000059.4(BRCA2):c.4858_4861del (p.Leu1620fs)
|
rs1593903595
|
|
NM_000059.4(BRCA2):c.4981_4982insGAAT (p.Tyr1661Ter)
|
|
|
NM_000059.4(BRCA2):c.5049_5050insT (p.Thr1684fs)
|
rs1593904263
|
|
NM_000059.4(BRCA2):c.5087del (p.Gly1696fs)
|
|
|
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)
|
rs397507768
|
|
NM_000059.4(BRCA2):c.5286_5300del (p.Tyr1762_Lys1767delinsTer)
|
|
|
NM_000059.4(BRCA2):c.5511dup (p.Glu1838Ter)
|
rs2137518141
|
|
NM_000059.4(BRCA2):c.568_575del (p.Pro190fs)
|
rs886040605
|
|
NM_000059.4(BRCA2):c.5844_5856del (p.Cys1948fs)
|
rs2072539817
|
|
NM_000059.4(BRCA2):c.5880_5887del (p.Cys1960fs)
|
rs1593906797
|
|
NM_000059.4(BRCA2):c.5963dup (p.Ser1989fs)
|
rs2072542766
|
|
NM_000059.4(BRCA2):c.610dup (p.Leu204fs)
|
rs80359560
|
|
NM_000059.4(BRCA2):c.6373_6374delinsG (p.Thr2125fs)
|
rs1555284655
|
|
NM_000059.4(BRCA2):c.6474dup (p.Gln2159fs)
|
rs1555284710
|
|
NM_000059.4(BRCA2):c.67+1G>C
|
rs81002796
|
|
NM_000059.4(BRCA2):c.6824_6827dup (p.Leu2277fs)
|
rs1555284862
|
|
NM_000059.4(BRCA2):c.6884_6888del (p.Arg2295fs)
|
rs1566236904
|
|
NM_000059.4(BRCA2):c.6980del (p.Ser2326_Leu2327insTer)
|
rs879255306
|
|
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7292dup (p.Asn2431fs)
|
rs2137557686
|
|
NM_000059.4(BRCA2):c.7628_7629del (p.Tyr2543fs)
|
rs1566242661
|
|
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys)
|
rs587782715
|
|
NM_000059.4(BRCA2):c.7701T>G (p.Tyr2567Ter)
|
rs1555286423
|
|
NM_000059.4(BRCA2):c.7805+2T>A
|
rs886040941
|
|
NM_000059.4(BRCA2):c.794-2A>G
|
rs1566222053
|
|
NM_000059.4(BRCA2):c.7958_7959dup (p.Leu2654fs)
|
rs1566244965
|
|
NM_000059.4(BRCA2):c.7977-2A>G
|
rs276174899
|
|
NM_000059.4(BRCA2):c.7985dup (p.Glu2663fs)
|
rs1555286933
|
|
NM_000059.4(BRCA2):c.8145del (p.Val2716fs)
|
rs1135401923
|
|
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del)
|
rs80359698
|
|
NM_000059.4(BRCA2):c.831del (p.Asn277fs)
|
rs1555281604
|
|
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile)
|
rs1434821822
|
|
NM_000059.4(BRCA2):c.8373del (p.Lys2791fs)
|
|
|
NM_000059.4(BRCA2):c.8463del (p.Ile2822fs)
|
rs397507988
|
|
NM_000059.4(BRCA2):c.8487+3A>G
|
rs81002806
|
|
NM_000059.4(BRCA2):c.8562T>G (p.Tyr2854Ter)
|
rs786201333
|
|
NM_000059.4(BRCA2):c.8706del (p.Glu2903fs)
|
rs2137613060
|
|
NM_000059.4(BRCA2):c.8724del (p.Lys2909fs)
|
rs1555288172
|
|
NM_000059.4(BRCA2):c.8754+1G>T
|
rs397508006
|
|
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=)
|
rs80359803
|
|
NM_000059.4(BRCA2):c.8755-1G>C
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8755-2A>T
|
rs1566252482
|
|
NM_000059.4(BRCA2):c.8755_8773dup (p.Gln2925delinsArgLeuPheGlnTer)
|
rs1593936493
|
|
NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter)
|
rs879255298
|
|
NM_000059.4(BRCA2):c.8941_8944del (p.Glu2981fs)
|
rs1593936980
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp)
|
rs397507416
|
|
NM_000059.4(BRCA2):c.9064del (p.Arg3022fs)
|
|
|
NM_000059.4(BRCA2):c.9117+1del
|
rs869320801
|
|
NM_000059.4(BRCA2):c.9256+2T>C
|
rs1555288591
|
|
NM_000059.4(BRCA2):c.9270_9288del (p.Tyr3092fs)
|
|
|
NM_000059.4(BRCA2):c.9331_9335delinsCCT (p.Glu3111fs)
|
rs886040831
|
|
NM_000059.4(BRCA2):c.9501+1G>T
|
rs397508058
|
|
NM_000059.4(BRCA2):c.9502-2A>C
|
rs81002868
|
|
NM_000059.4(BRCA2):c.9584_9586delinsAT (p.Thr3195fs)
|
rs2073041280
|
|
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)
|
rs1566260198
|
|
NM_000077.5(CDKN2A):c.167G>T (p.Ser56Ile)
|
rs104894109
|
|
NM_000135.4(FANCA):c.3934+1G>C
|
|
|
NM_000135.4(FANCA):c.4010+2T>C
|
rs2062067746
|
|
NM_000136.3(FANCC):c.867_868insT (p.Ile290fs)
|
|
|
NM_000143.4(FH):c.1108+1G>T
|
rs1057517734
|
|
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)
|
rs727503926
|
|
NM_000143.4(FH):c.157G>A (p.Glu53Lys)
|
rs863224013
|
|
NM_000143.4(FH):c.703C>T (p.His235Tyr)
|
rs863223968
|
|
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)
|
rs587779204
|
|
NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter)
|
rs1114167731
|
|
NM_000179.3(MSH6):c.1254_1255del (p.Gln419fs)
|
rs1553412696
|
|
NM_000179.3(MSH6):c.1309dup (p.His437fs)
|
rs1558661308
|
|
NM_000179.3(MSH6):c.1513dup (p.Tyr505fs)
|
rs1553412912
|
|
NM_000179.3(MSH6):c.1549_1589del (p.Ile517fs)
|
|
|
NM_000179.3(MSH6):c.1844_1848del (p.Cys615fs)
|
|
|
NM_000179.3(MSH6):c.2602del (p.Met868fs)
|
rs1572727797
|
|
NM_000179.3(MSH6):c.2687_2690del (p.Lys896fs)
|
rs1553414010
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter)
|
rs1114167707
|
|
NM_000179.3(MSH6):c.3124A>T (p.Lys1042Ter)
|
rs1572730270
|
|
NM_000179.3(MSH6):c.3513_3528del (p.Arg1172fs)
|
|
|
NM_000179.3(MSH6):c.3557-1G>T
|
rs1114167723
|
|
NM_000179.3(MSH6):c.3626_3627del (p.Leu1209fs)
|
rs863225409
|
|
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)
|
rs63749942
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
|
rs876661222
|
|
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)
|
rs1553333421
|
|
NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs)
|
rs1553333500
|
|
NM_000179.3(MSH6):c.3900_3945dup (p.Gly1316Ter)
|
rs1558393814
|
|
NM_000179.3(MSH6):c.3916_3926dup (p.Glu1310fs)
|
rs1558393913
|
|
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)
|
rs1553333753
|
|
NM_000179.3(MSH6):c.642del (p.Thr213_Tyr214insTer)
|
rs2104288054
|
|
NM_000179.3(MSH6):c.884_960del (p.Lys295fs)
|
|
|
NM_000249.4(MLH1):c.1047_1049delinsT (p.Pro350fs)
|
rs1559551570
|
|
NM_000249.4(MLH1):c.1409+1G>T
|
rs267607825
|
|
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs)
|
rs1553653084
|
|
NM_000249.4(MLH1):c.1569del (p.Met524fs)
|
rs1559574795
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1732-2A>G
|
rs267607852
|
|
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe)
|
rs63751713
|
|
NM_000249.4(MLH1):c.1745del (p.Leu582fs)
|
rs587778942
|
|
NM_000249.4(MLH1):c.1765_1769del (p.Ala589fs)
|
|
|
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del)
|
rs63750486
|
|
NM_000249.4(MLH1):c.1907_1920del (p.Leu636fs)
|
rs1553663750
|
|
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
|
|
|
NM_000249.4(MLH1):c.1989G>A (p.Glu663=)
|
rs63751662
|
|
NM_000249.4(MLH1):c.2032A>T (p.Lys678Ter)
|
rs1553664436
|
|
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)
|
rs587778971
|
|
NM_000249.4(MLH1):c.207+2T>C
|
rs267607722
|
|
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs)
|
rs876659681
|
|
NM_000249.4(MLH1):c.208-3C>G
|
rs267607720
|
|
NM_000249.4(MLH1):c.2103+3A>G
|
rs587778976
|
|
NM_000249.4(MLH1):c.283del (p.Ser95fs)
|
rs1064795441
|
|
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)
|
rs63750453
|
|
NM_000249.4(MLH1):c.34dup (p.Asp12fs)
|
rs1553637196
|
|
NM_000249.4(MLH1):c.381-1G>A
|
rs267607744
|
|
NM_000249.4(MLH1):c.381-1G>C
|
rs267607744
|
|
NM_000249.4(MLH1):c.404dup (p.Lys136fs)
|
rs1553642079
|
|
NM_000249.4(MLH1):c.783del (p.Phe261fs)
|
rs2125823340
|
|
NM_000249.4(MLH1):c.793del (p.Arg265fs)
|
rs863225384
|
|
NM_000249.4(MLH1):c.86C>G (p.Ala29Gly)
|
rs63750216
|
|
NM_000249.4(MLH1):c.882C>T (p.Leu294=)
|
rs63751707
|
|
NM_000249.4(MLH1):c.927dup (p.Thr310fs)
|
rs1553647995
|
|
NM_000249.4(MLH1):c.960_964dup (p.Ile322fs)
|
rs1553648047
|
|
NM_000251.2:c.1760_2458del
|
|
|
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu)
|
rs587779067
|
|
NM_000251.3(MSH2):c.1076+1dup
|
rs1673083690
|
|
NM_000251.3(MSH2):c.1229del (p.Gly410fs)
|
rs1553356700
|
|
NM_000251.3(MSH2):c.1384dup (p.Gln462fs)
|
rs2103760063
|
|
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)
|
rs63751207
|
|
NM_000251.3(MSH2):c.1593del (p.Val532fs)
|
rs1558511051
|
|
NM_000251.3(MSH2):c.1649_1650del (p.Lys550fs)
|
rs1114167835
|
|
NM_000251.3(MSH2):c.1927del (p.Glu643fs)
|
rs1667245819
|
|
NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys)
|
rs587779127
|
|
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)
|
rs587779133
|
|
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)
|
rs587782659
|
|
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg)
|
rs63751119
|
|
NM_000251.3(MSH2):c.2377C>T (p.Gln793Ter)
|
rs730881769
|
|
NM_000251.3(MSH2):c.2458+1G>A
|
rs267608010
|
|
NM_000251.3(MSH2):c.645+2T>G
|
rs876658996
|
|
NM_000251.3(MSH2):c.792+2T>G
|
rs587782408
|
|
NM_000251.3(MSH2):c.871_872dup (p.Leu291_Thr292insTer)
|
|
|
NM_000251.3(MSH2):c.922_925dup (p.Ala309fs)
|
|
|
NM_000251.3(MSH2):c.961_1006del (p.Thr321fs)
|
rs1553353114
|
|
NM_000264.5(PTCH1):c.202-2A>C
|
rs878853849
|
|
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter)
|
rs567261857
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)
|
rs199475624
|
|
NM_000277.3(PAH):c.441+6T>A
|
rs199475698
|
|
NM_000277.3(PAH):c.461A>T (p.Tyr154Phe)
|
rs1565853526
|
|
NM_000314.8(PTEN):c.1137T>G (p.Tyr379Ter)
|
rs1295420243
|
|
NM_000314.8(PTEN):c.13_14insC (p.Ile5fs)
|
rs2132145444
|
|
NM_000314.8(PTEN):c.156_164+4delinsCAT
|
|
|
NM_000314.8(PTEN):c.165-9_170del
|
rs1859801386
|
|
NM_000314.8(PTEN):c.309del (p.Cys105fs)
|
rs1554898088
|
|
NM_000314.8(PTEN):c.367C>T (p.His123Tyr)
|
rs786204931
|
|
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)
|
rs121909241
|
|
NM_000314.8(PTEN):c.402G>C (p.Met134Ile)
|
rs1114167676
|
|
NM_000314.8(PTEN):c.402G>T (p.Met134Ile)
|
rs1114167676
|
|
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly)
|
rs786202688
|
|
NM_000314.8(PTEN):c.738del (p.Leu247fs)
|
|
|
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter)
|
rs730882131
|
|
NM_000384.3(APOB):c.13020T>G (p.Tyr4340Ter)
|
rs141339310
|
|
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
|
|
|
NM_000455.5(STK11):c.199del (p.Leu67fs)
|
rs1555735014
|
|
NM_000455.5(STK11):c.200T>C (p.Leu67Pro)
|
rs137853077
|
|
NM_000455.5(STK11):c.374+2T>C
|
rs1555737480
|
|
NM_000455.5(STK11):c.717G>T (p.Trp239Cys)
|
rs137853082
|
|
NM_000455.5(STK11):c.781_788dup (p.Leu263fs)
|
rs1568709203
|
|
NM_000465.4(BARD1):c.1196T>G (p.Leu399Ter)
|
rs1172609046
|
|
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer)
|
rs1553622145
|
|
NM_000465.4(BARD1):c.79G>T (p.Glu27Ter)
|
rs587780037
|
|
NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs)
|
rs1554391033
|
|
NM_000492.3(CFTR):c.870_1116del
|
rs1562892108
|
|
NM_000492.4(CFTR):c.1239dup (p.Gln414fs)
|
rs1554382608
|
|
NM_000492.4(CFTR):c.1347_1350del (p.Arg450fs)
|
rs1562895104
|
|
NM_000492.4(CFTR):c.1680-877G>T
|
rs397508261
|
|
NM_000492.4(CFTR):c.1705T>C (p.Tyr569His)
|
rs397508276
|
|
NM_000492.4(CFTR):c.1766+2T>G
|
rs1554389062
|
|
NM_000492.4(CFTR):c.1826A>T (p.His609Leu)
|
rs397508310
|
|
NM_000492.4(CFTR):c.2049_2052del (p.Lys683fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2184_2185insA (p.Asp729fs)
|
rs1554389411
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
NM_000492.4(CFTR):c.2982_2988+2del
|
rs1554391489
|
|
NM_000492.4(CFTR):c.3220T>C (p.Phe1074Leu)
|
rs1258481099
|
|
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)
|
rs397508531
|
|
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)
|
rs397508635
|
|
NM_000492.4(CFTR):c.4078del (p.Val1360fs)
|
rs1554397515
|
|
NM_000492.4(CFTR):c.892A>T (p.Lys298Ter)
|
rs1584789180
|
|
NM_000517.6(HBA2):c.106T>C (p.Ser36Pro)
|
rs63750776
|
|
NM_000517.6(HBA2):c.114_115insGAA (p.Pro38_Thr39insGlu)
|
rs281860626
|
|
NM_000517.6(HBA2):c.311A>G (p.His104Arg)
|
rs63750752
|
|
NM_000517.6(HBA2):c.326C>A (p.Thr109Asn)
|
rs63750010
|
|
NM_000517.6(HBA2):c.358C>T (p.Pro120Ser)
|
rs1262943621
|
|
NM_000517.6(HBA2):c.421T>C (p.Tyr141His)
|
|
|
NM_000517.6(HBA2):c.70G>T (p.Glu24Ter)
|
rs281864819
|
|
NM_000517.6(HBA2):c.91_93del (p.Glu31del)
|
rs281864560
|
|
NM_000518.4(HBB):c.-121C>T
|
rs281864518
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
NM_000518.5(HBB):c.103G>T (p.Val35Phe)
|
rs1141387
|
|
NM_000518.5(HBB):c.176del (p.Pro59fs)
|
rs35395625
|
|
NM_000518.5(HBB):c.199A>G (p.Lys67Glu)
|
rs34165323
|
|
NM_000518.5(HBB):c.19GAG[1] (p.Glu8del)
|
rs63750928
|
|
NM_000518.5(HBB):c.221_224dup (p.Leu76fs)
|
rs1564875128
|
|
NM_000518.5(HBB):c.224_225insTCCAG (p.Leu76fs)
|
rs1847556466
|
|
NM_000518.5(HBB):c.253del (p.Thr85fs)
|
rs1554917831
|
|
NM_000518.5(HBB):c.263_267dup (p.Ser90delinsHisTer)
|
|
|
NM_000518.5(HBB):c.315+2T>G
|
rs63750283
|
|
NM_000518.5(HBB):c.316-3C>G
|
rs33913413
|
|
NM_000518.5(HBB):c.33dup (p.Val12fs)
|
rs1554918214
|
|
NM_000518.5(HBB):c.378_379del (p.Val127fs)
|
rs1847527770
|
|
NM_000518.5(HBB):c.431A>G (p.His144Arg)
|
rs33918338
|
|
NM_000518.5(HBB):c.91A>C (p.Arg31=)
|
rs35684407
|
|
NM_000520.6(HEXA):c.533G>T (p.Arg178Leu)
|
rs28941770
|
|
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro)
|
rs875989914
|
|
NM_000527.5(LDLR):c.1055G>T (p.Cys352Phe)
|
rs193922566
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
|
rs397509365
|
|
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)
|
rs875989930
|
|
NM_000527.5(LDLR):c.1845+11C>G
|
rs370245937
|
|
NM_000527.5(LDLR):c.420G>T (p.Glu140Asp)
|
rs879254520
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly)
|
rs730882085
|
|
NM_000527.5(LDLR):c.772del (p.Glu258fs)
|
rs1568596962
|
|
NM_000527.5(LDLR):c.852T>A (p.Cys284Ter)
|
|
|
NM_000527.5(LDLR):c.886T>G (p.Cys296Gly)
|
|
|
NM_000527.5(LDLR):c.941-2A>G
|
rs112366278
|
|
NM_000527.5(LDLR):c.974G>C (p.Cys325Ser)
|
rs879254746
|
|
NM_000535.7(PMS2):c.1017_1018insG (p.Lys340fs)
|
|
|
NM_000535.7(PMS2):c.1144+1G>C
|
rs373885654
|
|
NM_000535.7(PMS2):c.116del (p.Val39fs)
|
rs1064794152
|
|
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)
|
rs121434629
|
|
NM_000535.7(PMS2):c.163+1G>A
|
rs1064795705
|
|
NM_000535.7(PMS2):c.164-9_178delinsGATCC
|
rs1583410952
|
|
NM_000535.7(PMS2):c.1778del (p.Lys593fs)
|
rs766389591
|
|
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)
|
rs1554297125
|
|
NM_000535.7(PMS2):c.1924del (p.Glu642fs)
|
rs2128721171
|
|
NM_000535.7(PMS2):c.1938del (p.Lys647fs)
|
rs2128720948
|
|
NM_000535.7(PMS2):c.1970del (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1A>C (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)
|
rs869320619
|
|
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)
|
rs587781317
|
|
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs)
|
rs1785419483
|
|
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg)
|
rs1554304979
|
|
NM_000535.7(PMS2):c.2444_2445insTT (p.Val816fs)
|
rs2128671557
|
|
NM_000535.7(PMS2):c.2446-2A>G
|
rs886039709
|
|
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter)
|
rs786201039
|
|
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)
|
rs1554304745
|
|
NM_000535.7(PMS2):c.375C>A (p.Cys125Ter)
|
rs1562690527
|
|
NM_000535.7(PMS2):c.452del (p.Arg151fs)
|
rs745763201
|
|
NM_000535.7(PMS2):c.726del (p.Phe242fs)
|
rs1583375132
|
|
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs1064794905
|
|
NM_000535.7(PMS2):c.803+1G>A
|
rs1562669585
|
|
NM_000535.7(PMS2):c.804-10T>G
|
rs267608151
|
|
NM_000535.7(PMS2):c.903+1G>A
|
rs1554300689
|
|
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)
|
rs397516434
|
|
NM_000546.6(TP53):c.375+2T>C
|
rs1555526469
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
NM_000548.5(TSC2):c.2355G>A (p.Gln785=)
|
rs2088708544
|
|
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)
|
rs61749370
|
|
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys)
|
rs61749395
|
|
NM_000552.5(VWF):c.3974C>T (p.Ser1325Phe)
|
|
|
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile)
|
rs61750069
|
|
NM_000552.5(VWF):c.4160G>T (p.Ser1387Ile)
|
rs1565832072
|
|
NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr)
|
rs61750081
|
|
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe)
|
rs61750083
|
|
NM_000552.5(VWF):c.4820T>A (p.Val1607Asp)
|
rs61750579
|
|
NM_000552.5(VWF):c.7081+1G>A
|
|
|
NM_000552.5(VWF):c.7159C>T (p.Gln2387Ter)
|
|
|
NM_000552.5(VWF):c.7464C>T (p.Gly2488=)
|
rs900907976
|
|
NM_000558.5(HBA1):c.264C>G (p.His88Gln)
|
|
|
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)
|
rs137854563
|
|
NM_001042492.3(NF1):c.1505_1527+1del
|
|
|
NM_001042492.3(NF1):c.185T>A (p.Leu62Ter)
|
|
|
NM_001042492.3(NF1):c.2158del (p.Arg720fs)
|
rs1597712619
|
|
NM_001042492.3(NF1):c.2503C>T (p.Gln835Ter)
|
rs1555614207
|
|
NM_001042492.3(NF1):c.288+5G>A
|
rs1555605409
|
|
NM_001042492.3(NF1):c.4333-2A>G
|
rs1555618634
|
|
NM_001042492.3(NF1):c.4604_4606del (p.Pro1535_Phe1536delinsLeu)
|
|
|
NM_001042492.3(NF1):c.543_545dup (p.Tyr182Ter)
|
|
|
NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter)
|
rs876660774
|
|
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer)
|
rs1553129062
|
|
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs)
|
rs1057517457
|
|
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
|
rs587780749
|
|
NM_001110792.2(MECP2):c.814_829del (p.Asp272fs)
|
|
|
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)
|
rs1064795596
|
|
NM_001354712.2(THRB):c.1045G>A (p.Val349Met)
|
|
|
NM_001354712.2(THRB):c.1287GAT[1] (p.Met430del)
|
rs2031967126
|
|
NM_001354712.2(THRB):c.1324A>G (p.Met442Val)
|
rs121918691
|
|
NM_001354712.2(THRB):c.1345G>T (p.Glu449Ter)
|
rs1553609157
|
|
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala)
|
rs121918704
|
|
NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys)
|
rs1553609090
|
|
NM_001354712.2(THRB):c.749T>C (p.Ile250Thr)
|
rs1559415720
|
|
NM_001354712.2(THRB):c.751G>C (p.Gly251Arg)
|
rs1553613123
|
|
NM_001354712.2(THRB):c.949G>T (p.Ala317Ser)
|
rs121918690
|
|
NM_001354712.2(THRB):c.997G>A (p.Glu333Lys)
|
rs2148833747
|
|
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr)
|
rs2136120898
|
|
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)
|
rs397514352
|
|
NM_001370658.1(BTD):c.395C>G (p.Thr132Arg)
|
rs587783003
|
|
NM_001370658.1(BTD):c.400-2A>G
|
rs904882409
|
|
NM_001370658.1(BTD):c.534_536del (p.Val179del)
|
rs397514373
|
|
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)
|
rs397514380
|
|
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)
|
rs1157567876
|
|
NM_001698.3(AUH):c.373C>T (p.Arg125Trp)
|
rs200030276
|
|
NM_002439.5(MSH3):c.1686G>A (p.Trp562Ter)
|
rs1395288001
|
|
NM_002439.5(MSH3):c.316C>T (p.Gln106Ter)
|
rs149350323
|
|
NM_002439.5(MSH3):c.507dup (p.Asp170Ter)
|
|
|
NM_002485.5(NBN):c.171+1G>A
|
rs931715719
|
|
NM_002485.5(NBN):c.1849G>T (p.Glu617Ter)
|
rs766602873
|
|
NM_002485.5(NBN):c.2070+2T>G
|
rs786203223
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
NM_002485.5(NBN):c.676del (p.Thr226fs)
|
rs1563561558
|
|
NM_002485.5(NBN):c.93_94del (p.Ala32fs)
|
rs864622253
|
|
NM_002528.7(NTHL1):c.350del (p.Pro117fs)
|
rs763525759
|
|
NM_002528.7(NTHL1):c.350dup (p.Val119fs)
|
rs763525759
|
|
NM_002528.7(NTHL1):c.709dup (p.Ile237fs)
|
rs2150938411
|
|
NM_003001.5(SDHC):c.387G>A (p.Trp129Ter)
|
rs981049067
|
|
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)
|
rs876658477
|
|
NM_004064.5(CDKN1B):c.202A>T (p.Lys68Ter)
|
|
|
NM_004168.4(SDHA):c.1729C>T (p.Gln577Ter)
|
|
|
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer)
|
rs2126542910
|
|
NM_004329.3(BMPR1A):c.1459T>A (p.Trp487Arg)
|
rs112883778
|
|
NM_004329.3(BMPR1A):c.39del (p.Tyr14fs)
|
rs1564710641
|
|
NM_004360.5(CDH1):c.1145del (p.Gly382fs)
|
rs1555515863
|
|
NM_004360.5(CDH1):c.1341del (p.Lys447fs)
|
rs1555516089
|
|
NM_004360.5(CDH1):c.1369del (p.Thr457fs)
|
rs1960959718
|
|
NM_004360.5(CDH1):c.1553_1565+39del
|
rs1555516191
|
|
NM_004360.5(CDH1):c.1587dup (p.Ala530fs)
|
rs1555516532
|
|
NM_004360.5(CDH1):c.2440-2A>G
|
rs1555518210
|
|
NM_004360.5(CDH1):c.656del (p.Pro219fs)
|
rs1555515284
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
NM_004656.4(BAP1):c.1730-1G>A
|
rs1559586168
|
|
NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter)
|
rs863224400
|
|
NM_005431.2(XRCC2):c.377T>G (p.Leu126Ter)
|
|
|
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer)
|
rs746142129
|
|
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer)
|
rs786201789
|
|
NM_007194.4(CHEK2):c.1095+1G>A
|
rs768172525
|
|
NM_007194.4(CHEK2):c.1337del (p.Asn446fs)
|
rs876659639
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
NM_007194.4(CHEK2):c.179dup (p.Ser61fs)
|
|
|
NM_007194.4(CHEK2):c.372del (p.Phe125fs)
|
rs876661050
|
|
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile)
|
rs786203977
|
|
NM_007194.4(CHEK2):c.423del (p.Lys142fs)
|
rs2053957486
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter)
|
rs1569149953
|
|
NM_007194.4(CHEK2):c.793-1G>T
|
rs730881687
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007294.4(BRCA1):c.1009_1010del (p.Glu337fs)
|
rs1555592671
|
|
NM_007294.4(BRCA1):c.1015A>T (p.Lys339Ter)
|
rs55842957
|
|
NM_007294.4(BRCA1):c.122A>G (p.His41Arg)
|
rs80357276
|
|
NM_007294.4(BRCA1):c.134+5G>A
|
rs80358038
|
|
NM_007294.4(BRCA1):c.1600del (p.Gln534fs)
|
rs869320776
|
|
NM_007294.4(BRCA1):c.1641_1642insG (p.Ile548fs)
|
rs1597874930
|
|
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter)
|
rs730881473
|
|
NM_007294.4(BRCA1):c.1723dup (p.Glu575fs)
|
rs1555591335
|
|
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg)
|
rs28897672
|
|
NM_007294.4(BRCA1):c.2214del (p.Val740fs)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2235dup (p.Asp746fs)
|
rs2053797991
|
|
NM_007294.4(BRCA1):c.2278dup (p.Thr760fs)
|
|
|
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)
|
rs886040027
|
|
NM_007294.4(BRCA1):c.2351C>A (p.Ser784Ter)
|
rs55914168
|
|
NM_007294.4(BRCA1):c.2402_2404delinsCATTTCCCCTATAGCAAAAACATGACGGCACTTACTGTATCAA (p.Cys801_Val802delinsSerPheProLeuTer)
|
rs1567795809
|
|
NM_007294.4(BRCA1):c.2809A>T (p.Lys937Ter)
|
rs1555588915
|
|
NM_007294.4(BRCA1):c.2921T>G (p.Leu974Ter)
|
rs80356872
|
|
NM_007294.4(BRCA1):c.2926_2941dup (p.Pro981fs)
|
rs2053667627
|
|
NM_007294.4(BRCA1):c.3054del (p.Asn1018fs)
|
|
|
NM_007294.4(BRCA1):c.3255del (p.Arg1085fs)
|
rs2053619372
|
|
NM_007294.4(BRCA1):c.3301dup (p.Ser1101fs)
|
|
|
NM_007294.4(BRCA1):c.3337dup (p.Tyr1113fs)
|
rs1567792067
|
|
NM_007294.4(BRCA1):c.3342del (p.Glu1115fs)
|
|
|
NM_007294.4(BRCA1):c.346del (p.Glu116fs)
|
rs762635795
|
|
NM_007294.4(BRCA1):c.3475dup (p.Ile1159fs)
|
rs1555587638
|
|
NM_007294.4(BRCA1):c.3676_3679del (p.Phe1226fs)
|
rs80357671
|
|
NM_007294.4(BRCA1):c.3722_3740del (p.Ser1241fs)
|
rs80359882
|
|
NM_007294.4(BRCA1):c.3791del (p.Lys1264fs)
|
rs1567790067
|
|
NM_007294.4(BRCA1):c.4019T>A (p.Leu1340Ter)
|
rs2053483708
|
|
NM_007294.4(BRCA1):c.4074dup (p.Gln1359fs)
|
rs2053472498
|
|
NM_007294.4(BRCA1):c.4097-20_4134del
|
rs2053440925
|
|
NM_007294.4(BRCA1):c.4146C>A (p.Cys1382Ter)
|
rs1057517574
|
|
NM_007294.4(BRCA1):c.4271_4295del (p.Gln1424fs)
|
rs2053050323
|
|
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs)
|
rs397509170
|
|
NM_007294.4(BRCA1):c.4485-2A>C
|
rs80358054
|
|
NM_007294.4(BRCA1):c.4532dup (p.His1511fs)
|
rs1555582009
|
|
NM_007294.4(BRCA1):c.4675+2T>G
|
rs879255293
|
|
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln)
|
rs80356988
|
|
NM_007294.4(BRCA1):c.4862_4871del (p.Asp1621fs)
|
rs1555580773
|
|
NM_007294.4(BRCA1):c.4955del (p.Met1652fs)
|
rs2052365251
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
NM_007294.4(BRCA1):c.4986+4A>C
|
rs80358087
|
|
NM_007294.4(BRCA1):c.4986+4A>T
|
rs80358087
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs)
|
rs879255283
|
|
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)
|
rs730882166
|
|
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)
|
rs80356993
|
|
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)
|
rs80356860
|
|
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys)
|
rs80357222
|
|
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)
|
rs45444999
|
|
NM_007294.4(BRCA1):c.5145_5152+8delinsAAATAG
|
rs1597819841
|
|
NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del)
|
rs80358347
|
|
NM_007294.4(BRCA1):c.5216A>T (p.Asp1739Val)
|
rs80357227
|
|
NM_007294.4(BRCA1):c.5257A>G (p.Arg1753Gly)
|
rs1597810544
|
|
NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr)
|
rs1597801649
|
|
NM_007294.4(BRCA1):c.5406+5G>C
|
rs80358073
|
|
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala)
|
rs80357149
|
|
NM_007294.4(BRCA1):c.5476del (p.Gln1826fs)
|
rs2152575457
|
|
NM_007294.4(BRCA1):c.5483del (p.Cys1828fs)
|
rs397509288
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
NM_007294.4(BRCA1):c.688G>T (p.Glu230Ter)
|
rs1555593310
|
|
NM_007294.4(BRCA1):c.715del (p.His239fs)
|
rs879255294
|
|
NM_007294.4(BRCA1):c.788del (p.Gly263fs)
|
rs886040319
|
|
NM_007294.4(BRCA1):c.848dup (p.Leu283fs)
|
rs2054036520
|
|
NM_007294.4(BRCA1):c.964_968del (p.Ala322fs)
|
rs1555592744
|
|
NM_015450.3(POT1):c.1163+1G>A
|
rs1562981766
|
|
NM_020937.4(FANCM):c.4005del (p.Val1336fs)
|
rs746983128
|
|
NM_020937.4(FANCM):c.5928_5931del (p.Phe1975_Tyr1976insTer)
|
|
|
NM_024642.5(GALNT12):c.710G>A (p.Trp237Ter)
|
|
|
NM_024675.3:c.2835_3113del
|
|
|
NM_024675.4(PALB2):c.1753del (p.Asp585fs)
|
rs1555460670
|
|
NM_024675.4(PALB2):c.1939_1940insT (p.His647fs)
|
rs1966863209
|
|
NM_024675.4(PALB2):c.2127_2128del (p.Thr710fs)
|
rs2142380442
|
|
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)
|
rs886039480
|
|
NM_024675.4(PALB2):c.2515-1G>C
|
rs587776417
|
|
NM_024675.4(PALB2):c.2549dup (p.Asn851fs)
|
|
|
NM_024675.4(PALB2):c.2748+1G>C
|
rs753153576
|
|
NM_024675.4(PALB2):c.2996+2T>C
|
rs1966797789
|
|
NM_024675.4(PALB2):c.3396_3405del (p.Thr1133fs)
|
rs876660492
|
|
NM_024675.4(PALB2):c.3G>A (p.Met1Ile)
|
rs1057517585
|
|
NM_024675.4(PALB2):c.613G>T (p.Glu205Ter)
|
rs1567222636
|
|
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp)
|
rs1603342316
|
|
NM_032043.3(BRIP1):c.1474-1G>A
|
rs1555603638
|
|
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs)
|
rs763818712
|
|
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)
|
rs748598593
|
|
NM_032043.3(BRIP1):c.380-1G>T
|
|
|
NM_032043.3(BRIP1):c.508-1G>C
|
rs864622277
|
|
NM_058195.4(CDKN2A):c.193+1del
|
rs1820525500
|
|
NM_058195.4(CDKN2A):c.97dup (p.Glu33fs)
|
rs779306249
|
|
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser)
|
rs767796996
|
|
NM_058216.3(RAD51C):c.904+1G>T
|
rs1555602159
|
|
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter)
|
rs1555605074
|
|
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter)
|
rs398124532
|
|
NM_177438.3(DICER1):c.5299dup (p.His1767fs)
|
|
|
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu)
|
rs1060503625
|
|