NM_138694.4(PKHD1):c.1964+17G>T
|
rs201349527
|
0.00517
|
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)
|
rs145910245
|
0.00349
|
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)
|
rs140626538
|
0.00205
|
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)
|
rs61733680
|
0.00204
|
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr)
|
rs121908326
|
0.00147
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_000282.4(PCCA):c.300+3930C>T
|
rs767934206
|
0.00105
|
NM_174936.4(PCSK9):c.1171C>A (p.His391Asn)
|
rs146471967
|
0.00086
|
NM_000733.4(CD3E):c.470C>T (p.Ala157Val)
|
rs140639753
|
0.00083
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00079
|
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)
|
rs72954276
|
0.00078
|
NM_000243.3(MEFV):c.1382G>A (p.Arg461Gln)
|
rs145637617
|
0.00076
|
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)
|
rs184868522
|
0.00064
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_000535.7(PMS2):c.1864A>G (p.Met622Val)
|
rs370853512
|
0.00035
|
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg)
|
rs145173864
|
0.00025
|
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met)
|
rs397515318
|
0.00025
|
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser)
|
rs28730713
|
0.00024
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
NM_002878.4(RAD51D):c.434G>A (p.Arg145His)
|
rs147264215
|
0.00023
|
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg)
|
rs148012328
|
0.00022
|
NM_000179.3(MSH6):c.*49_*68dup
|
rs777409019
|
0.00021
|
NM_004612.4(TGFBR1):c.-13T>C
|
rs886063220
|
0.00020
|
NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp)
|
rs137878146
|
0.00020
|
NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr)
|
rs141432759
|
0.00019
|
NM_020533.3(MCOLN1):c.1360-16G>A
|
rs367955829
|
0.00019
|
NM_000314.4(PTEN):c.-1242G>A
|
rs587779985
|
0.00018
|
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)
|
rs587781812
|
0.00017
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000053.4(ATP7B):c.445G>A (p.Val149Met)
|
rs200606656
|
0.00016
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000251.3(MSH2):c.1276+16G>A
|
rs368120695
|
0.00016
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)
|
rs55982963
|
0.00015
|
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr)
|
rs202218969
|
0.00015
|
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)
|
rs146017595
|
0.00014
|
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys)
|
rs187046823
|
0.00014
|
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00014
|
NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu)
|
rs145422395
|
0.00014
|
NM_000251.3(MSH2):c.-3G>C
|
rs587779960
|
0.00013
|
NM_000492.4(CFTR):c.4184G>T (p.Cys1395Phe)
|
rs1330281974
|
0.00013
|
NM_024675.4(PALB2):c.48+7G>C
|
rs190626072
|
0.00013
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)
|
rs200894063
|
0.00012
|
NM_000038.6(APC):c.7621A>G (p.Ile2541Val)
|
rs587778033
|
0.00011
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
NM_000249.4(MLH1):c.884+16A>G
|
rs377598055
|
0.00011
|
NM_000251.3(MSH2):c.1387-4G>C
|
rs376796243
|
0.00011
|
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln)
|
rs766933370
|
0.00011
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His)
|
rs374233100
|
0.00011
|
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr)
|
rs587782239
|
0.00010
|
NM_000492.4(CFTR):c.2557A>G (p.Ile853Val)
|
rs780187979
|
0.00010
|
NM_001035.3(RYR2):c.13957-5C>G
|
rs189772599
|
0.00010
|
NM_002769.5(PRSS1):c.*8A>G
|
rs750733084
|
0.00010
|
NM_015506.3(MMACHC):c.641G>A (p.Arg214His)
|
rs202189863
|
0.00010
|
NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly)
|
rs150408832
|
0.00009
|
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser)
|
rs375853155
|
0.00009
|
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)
|
rs149262370
|
0.00009
|
NM_003098.3(SNTA1):c.101G>A (p.Ser34Asn)
|
rs963277918
|
0.00009
|
NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val)
|
rs139742511
|
0.00009
|
NM_000251.3(MSH2):c.1662-10C>T
|
rs752606387
|
0.00008
|
NM_000518.5(HBB):c.92+4G>A
|
rs1377832836
|
0.00008
|
NM_174936.4(PCSK9):c.520C>T (p.Pro174Ser)
|
rs533273863
|
0.00008
|
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu)
|
rs771789585
|
0.00007
|
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)
|
rs202127474
|
0.00007
|
NM_000249.4(MLH1):c.545+19G>T
|
rs41285099
|
0.00007
|
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)
|
rs201141245
|
0.00007
|
NM_004004.6(GJB2):c.425T>C (p.Phe142Ser)
|
rs116769964
|
0.00007
|
NM_005502.4(ABCA1):c.5690G>A (p.Arg1897Gln)
|
rs564049659
|
0.00007
|
NM_032043.3(BRIP1):c.2873T>A (p.Leu958Gln)
|
rs145859791
|
0.00007
|
NM_000038.6(APC):c.4478C>T (p.Thr1493Met)
|
rs374892194
|
0.00006
|
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)
|
rs587782195
|
0.00006
|
NM_000051.4(ATM):c.3998A>T (p.Asp1333Val)
|
rs746709782
|
0.00006
|
NM_000053.4(ATP7B):c.4022-19C>T
|
rs369736734
|
0.00006
|
NM_000057.4(BLM):c.1044G>A (p.Met348Ile)
|
rs184657475
|
0.00006
|
NM_000057.4(BLM):c.808G>A (p.Glu270Lys)
|
rs762053925
|
0.00006
|
NM_000059.4(BRCA2):c.2213G>A (p.Cys738Tyr)
|
rs1219265131
|
0.00006
|
NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser)
|
rs587781616
|
0.00006
|
NM_000243.3(MEFV):c.116G>A (p.Arg39Lys)
|
rs141288548
|
0.00006
|
NM_000257.4(MYH7):c.968T>C (p.Ile323Thr)
|
rs397516275
|
0.00006
|
NM_000303.3(PMM2):c.426T>G (p.Ile142Met)
|
rs781610241
|
0.00006
|
NM_000465.4(BARD1):c.665C>T (p.Ala222Val)
|
rs142086060
|
0.00006
|
NM_000492.4(CFTR):c.1679+18G>A
|
rs369294289
|
0.00006
|
NM_000492.4(CFTR):c.4232A>C (p.Gln1411Pro)
|
rs150177304
|
0.00006
|
NM_000492.4(CFTR):c.662C>T (p.Ala221Val)
|
rs752432390
|
0.00006
|
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu)
|
rs780563386
|
0.00006
|
NM_000527.5(LDLR):c.979C>T (p.His327Tyr)
|
rs747507019
|
0.00006
|
NM_000535.7(PMS2):c.1703C>A (p.Pro568Gln)
|
rs869312801
|
0.00006
|
NM_001379610.1(SPINK1):c.-15C>T
|
rs148434824
|
0.00006
|
NM_002474.3(MYH11):c.1301G>A (p.Arg434His)
|
rs754636432
|
0.00006
|
NM_003280.3(TNNC1):c.24+10A>G
|
rs770581962
|
0.00006
|
NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu)
|
rs397507213
|
0.00006
|
NM_024334.3(TMEM43):c.578C>T (p.Ser193Leu)
|
rs140380494
|
0.00006
|
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu)
|
rs780214893
|
0.00006
|
NM_174936.4(PCSK9):c.658-9G>A
|
rs757194881
|
0.00006
|
NM_000038.6(APC):c.7472T>C (p.Met2491Thr)
|
rs369075403
|
0.00005
|
NM_000090.4(COL3A1):c.1510-8C>A
|
rs982619356
|
0.00005
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
0.00005
|
NM_000152.5(GAA):c.2481+128A>G
|
rs760656694
|
0.00005
|
NM_000249.4(MLH1):c.1489C>T (p.Arg497Trp)
|
rs200830026
|
0.00005
|
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)
|
rs138705565
|
0.00005
|
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)
|
rs201334592
|
0.00005
|
NM_000314.8(PTEN):c.*5T>C
|
rs1006891299
|
0.00005
|
NM_000465.4(BARD1):c.-4G>A
|
rs761863671
|
0.00005
|
NM_000465.4(BARD1):c.709C>G (p.Gln237Glu)
|
rs587780035
|
0.00005
|
NM_000492.4(CFTR):c.1209+12T>A
|
rs748021847
|
0.00005
|
NM_000546.6(TP53):c.*6T>A
|
rs369567704
|
0.00005
|
NM_001126049.2(KLLN):c.-1029G>C
|
rs1465513356
|
0.00005
|
NM_001386795.1(DTNA):c.1813C>T (p.Arg605Trp)
|
rs749405895
|
0.00005
|
NM_004004.6(GJB2):c.-22-18T>A
|
rs778602324
|
0.00005
|
NM_004415.4(DSP):c.778-20C>T
|
rs762596346
|
0.00005
|
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys)
|
rs879255385
|
0.00005
|
NM_139076.3(ABRAXAS1):c.322C>G (p.Gln108Glu)
|
rs573603690
|
0.00005
|
NM_000038.6(APC):c.7594C>T (p.His2532Tyr)
|
rs375080917
|
0.00004
|
NM_000038.6(APC):c.776G>A (p.Arg259Gln)
|
rs767457050
|
0.00004
|
NM_000051.4(ATM):c.202A>G (p.Ile68Val)
|
rs35389822
|
0.00004
|
NM_000051.4(ATM):c.3577-6G>A
|
rs56006345
|
0.00004
|
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)
|
rs80358548
|
0.00004
|
NM_000059.4(BRCA2):c.5927G>T (p.Gly1976Val)
|
rs587782751
|
0.00004
|
NM_000059.4(BRCA2):c.9648+10T>G
|
rs81002835
|
0.00004
|
NM_000179.3(MSH6):c.242C>T (p.Ala81Val)
|
rs587779924
|
0.00004
|
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys)
|
rs375716505
|
0.00004
|
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)
|
rs104895144
|
0.00004
|
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln)
|
rs63750266
|
0.00004
|
NM_000282.4(PCCA):c.2118+988G>A
|
rs556040424
|
0.00004
|
NM_000416.3(IFNGR1):c.1292C>T (p.Pro431Leu)
|
rs780820310
|
0.00004
|
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)
|
rs397508332
|
0.00004
|
NM_000492.4(CFTR):c.2490+14G>T
|
rs573016418
|
0.00004
|
NM_000527.5(LDLR):c.1987+10G>T
|
rs375846192
|
0.00004
|
NM_000535.7(PMS2):c.2287G>A (p.Glu763Lys)
|
rs587780051
|
0.00004
|
NM_000551.4(VHL):c.556G>A (p.Glu186Lys)
|
rs367545984
|
0.00004
|
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile)
|
rs780360360
|
0.00004
|
NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg)
|
rs760077990
|
0.00004
|
NM_002471.4(MYH6):c.5513C>T (p.Ser1838Leu)
|
rs747673552
|
0.00004
|
NM_002485.5(NBN):c.-10A>T
|
rs759094270
|
0.00004
|
NM_002878.4(RAD51D):c.264-7C>T
|
rs753529790
|
0.00004
|
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)
|
rs537588390
|
0.00004
|
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile)
|
rs727504641
|
0.00004
|
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp)
|
rs80356899
|
0.00004
|
NM_016203.4(PRKAG2):c.617C>T (p.Pro206Leu)
|
rs182084936
|
0.00004
|
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)
|
rs139290300
|
0.00004
|
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)
|
rs377085677
|
0.00004
|
NM_024675.4(PALB2):c.1637T>C (p.Val546Ala)
|
rs148647206
|
0.00004
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
0.00004
|
NM_139076.3(ABRAXAS1):c.577C>T (p.Arg193Ter)
|
rs201698934
|
0.00004
|
NM_000038.6(APC):c.211C>T (p.Arg71Cys)
|
rs767741687
|
0.00003
|
NM_000038.6(APC):c.2870A>G (p.Lys957Arg)
|
rs777881096
|
0.00003
|
NM_000038.6(APC):c.296G>A (p.Arg99Gln)
|
rs199842850
|
0.00003
|
NM_000038.6(APC):c.7264A>G (p.Thr2422Ala)
|
rs730881260
|
0.00003
|
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys)
|
rs878853492
|
0.00003
|
NM_000051.4(ATM):c.4505G>T (p.Cys1502Phe)
|
rs759340881
|
0.00003
|
NM_000051.4(ATM):c.5069A>G (p.His1690Arg)
|
rs863224574
|
0.00003
|
NM_000053.4(ATP7B):c.2447+8A>G
|
rs747586752
|
0.00003
|
NM_000059.4(BRCA2):c.6172T>A (p.Phe2058Ile)
|
rs80358857
|
0.00003
|
NM_000059.4(BRCA2):c.632-13T>G
|
rs775947267
|
0.00003
|
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)
|
rs80358985
|
0.00003
|
NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg)
|
rs55647716
|
0.00003
|
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala)
|
rs80359220
|
0.00003
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
0.00003
|
NM_000179.3(MSH6):c.359T>C (p.Ile120Thr)
|
rs775971872
|
0.00003
|
NM_000179.3(MSH6):c.3604A>T (p.Met1202Leu)
|
rs369778514
|
0.00003
|
NM_000179.3(MSH6):c.3845C>A (p.Thr1282Asn)
|
rs876660361
|
0.00003
|
NM_000251.3(MSH2):c.1331G>T (p.Arg444Leu)
|
rs557339938
|
0.00003
|
NM_000335.5(SCN5A):c.3389C>T (p.Thr1130Ile)
|
rs199473197
|
0.00003
|
NM_000397.4(CYBB):c.1151+13T>C
|
rs781868409
|
0.00003
|
NM_000465.4(BARD1):c.1915T>C (p.Cys639Arg)
|
rs587781376
|
0.00003
|
NM_000492.4(CFTR):c.1600G>T (p.Ala534Ser)
|
rs1276867493
|
0.00003
|
NM_000492.4(CFTR):c.3767C>T (p.Ala1256Val)
|
rs773852510
|
0.00003
|
NM_000535.7(PMS2):c.917T>C (p.Val306Ala)
|
rs786201878
|
0.00003
|
NM_000546.6(TP53):c.188C>G (p.Ala63Gly)
|
rs372201428
|
0.00003
|
NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp)
|
rs587778540
|
0.00003
|
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp)
|
rs756338201
|
0.00003
|
NM_002485.5(NBN):c.2215C>G (p.Leu739Val)
|
rs370058152
|
0.00003
|
NM_002485.5(NBN):c.547G>A (p.Ala183Thr)
|
rs151070415
|
0.00003
|
NM_002834.5(PTPN11):c.1379+6A>G
|
rs746958309
|
0.00003
|
NM_002878.4(RAD51D):c.5G>C (p.Gly2Ala)
|
rs763716638
|
0.00003
|
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg)
|
rs587778176
|
0.00003
|
NM_004360.5(CDH1):c.2017C>A (p.Gln673Lys)
|
rs587781701
|
0.00003
|
NM_004985.5(KRAS):c.451-5622G>A
|
rs755877953
|
0.00003
|
NM_007294.4(BRCA1):c.2500G>C (p.Gly834Arg)
|
rs786202215
|
0.00003
|
NM_007294.4(BRCA1):c.4771G>A (p.Gly1591Ser)
|
rs587782825
|
0.00003
|
NM_007294.4(BRCA1):c.5152+15A>G
|
rs750905289
|
0.00003
|
NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile)
|
rs767926590
|
0.00003
|
NM_024675.4(PALB2):c.1833C>A (p.Asp611Glu)
|
rs779184831
|
0.00003
|
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val)
|
rs142744352
|
0.00003
|
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser)
|
rs587780239
|
0.00003
|
NM_138694.4(PKHD1):c.262G>C (p.Val88Leu)
|
rs374447352
|
0.00003
|
NM_139076.3(ABRAXAS1):c.64C>T (p.His22Tyr)
|
rs756786001
|
0.00003
|
NM_000038.6(APC):c.4913T>C (p.Met1638Thr)
|
rs201797422
|
0.00002
|
NM_000038.6(APC):c.689G>A (p.Arg230His)
|
rs587780545
|
0.00002
|
NM_000038.6(APC):c.6952A>G (p.Ser2318Gly)
|
rs747056590
|
0.00002
|
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn)
|
rs779287035
|
0.00002
|
NM_000038.6(APC):c.8071A>G (p.Asn2691Asp)
|
rs1060503281
|
0.00002
|
NM_000051.4(ATM):c.3402+16A>G
|
rs763382531
|
0.00002
|
NM_000051.4(ATM):c.3577G>A (p.Val1193Ile)
|
rs779148780
|
0.00002
|
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys)
|
rs886039471
|
0.00002
|
NM_000059.4(BRCA2):c.1078C>G (p.Pro360Ala)
|
rs587782057
|
0.00002
|
NM_000059.4(BRCA2):c.5014T>C (p.Tyr1672His)
|
rs781671762
|
0.00002
|
NM_000059.4(BRCA2):c.5423T>C (p.Ile1808Thr)
|
rs397507350
|
0.00002
|
NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser)
|
rs146120136
|
0.00002
|
NM_000059.4(BRCA2):c.8515T>C (p.Tyr2839His)
|
rs758884639
|
0.00002
|
NM_000138.5(FBN1):c.346+6T>G
|
rs371159129
|
0.00002
|
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu)
|
rs371110611
|
0.00002
|
NM_000155.4(GALT):c.268G>C (p.Asp90His)
|
rs201330799
|
0.00002
|
NM_000155.4(GALT):c.507+17C>T
|
rs747136664
|
0.00002
|
NM_000179.3(MSH6):c.2604G>A (p.Met868Ile)
|
rs749508276
|
0.00002
|
NM_000179.3(MSH6):c.3759AGA[3] (p.Glu1254dup)
|
rs587779937
|
0.00002
|
NM_000179.3(MSH6):c.476C>T (p.Ala159Val)
|
rs587778528
|
0.00002
|
NM_000179.3(MSH6):c.899G>A (p.Arg300Gln)
|
rs55760494
|
0.00002
|
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln)
|
rs763015849
|
0.00002
|
NM_000249.4(MLH1):c.1039-10T>A
|
rs1353365805
|
0.00002
|
NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp)
|
rs63751703
|
0.00002
|
NM_000251.3(MSH2):c.964G>A (p.Gly322Ser)
|
rs773301485
|
0.00002
|
NM_000314.8(PTEN):c.-798A>G
|
rs577569375
|
0.00002
|
NM_000335.5(SCN5A):c.1579G>A (p.Gly527Arg)
|
rs763550164
|
0.00002
|
NM_000371.4(TTR):c.-1G>C
|
rs769343676
|
0.00002
|
NM_000465.4(BARD1):c.79G>C (p.Glu27Gln)
|
rs587780037
|
0.00002
|
NM_000492.4(CFTR):c.2878C>T (p.Pro960Ser)
|
rs185397588
|
0.00002
|
NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu)
|
rs752834717
|
0.00002
|
NM_000492.4(CFTR):c.4027G>A (p.Gly1343Ser)
|
rs747324955
|
0.00002
|
NM_000518.5(HBB):c.359G>A (p.Gly120Asp)
|
rs33947020
|
0.00002
|
NM_000531.6(OTC):c.76C>T (p.Arg26Trp)
|
rs1057515879
|
0.00002
|
NM_000535.7(PMS2):c.1309C>T (p.Pro437Ser)
|
rs200726484
|
0.00002
|
NM_000535.7(PMS2):c.149G>A (p.Gly50Asp)
|
rs539285592
|
0.00002
|
NM_000535.7(PMS2):c.2174+6T>C
|
rs587780050
|
0.00002
|
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr)
|
rs386833410
|
0.00002
|
NM_000535.7(PMS2):c.433C>A (p.Gln145Lys)
|
rs786204133
|
0.00002
|
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser)
|
rs587782633
|
0.00002
|
NM_000546.6(TP53):c.784G>A (p.Gly262Ser)
|
rs200579969
|
0.00002
|
NM_001110792.2(MECP2):c.13G>A (p.Ala5Thr)
|
rs1240023402
|
0.00002
|
NM_001165963.4(SCN1A):c.3502G>A (p.Val1168Ile)
|
rs146374754
|
0.00002
|
NM_002354.3(EPCAM):c.426-1G>A
|
rs373597944
|
0.00002
|
NM_002878.4(RAD51D):c.868C>T (p.Arg290Trp)
|
rs527964137
|
0.00002
|
NM_002878.4(RAD51D):c.899G>A (p.Arg300Gln)
|
rs761290755
|
0.00002
|
NM_003098.3(SNTA1):c.905A>G (p.Glu302Gly)
|
rs763371307
|
0.00002
|
NM_003172.4(SURF1):c.897del (p.Val300fs)
|
rs782010013
|
0.00002
|
NM_003673.4(TCAP):c.378G>C (p.Gln126His)
|
rs749685550
|
0.00002
|
NM_004360.5(CDH1):c.1930G>A (p.Asp644Asn)
|
rs587781696
|
0.00002
|
NM_005633.4(SOS1):c.755T>C (p.Ile252Thr)
|
rs142094234
|
0.00002
|
NM_007194.4(CHEK2):c.1383C>G (p.Asp461Glu)
|
rs1060502702
|
0.00002
|
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys)
|
rs149991239
|
0.00002
|
NM_007194.4(CHEK2):c.478A>G (p.Ile160Val)
|
rs876659950
|
0.00002
|
NM_007294.4(BRCA1):c.1357G>C (p.Glu453Gln)
|
rs768054411
|
0.00002
|
NM_007294.4(BRCA1):c.2808T>G (p.Asp936Glu)
|
rs730881485
|
0.00002
|
NM_007294.4(BRCA1):c.5528C>T (p.Ala1843Val)
|
rs730881447
|
0.00002
|
NM_017780.4(CHD7):c.2830C>T (p.Arg944Cys)
|
rs587783435
|
0.00002
|
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser)
|
rs45464500
|
0.00002
|
NM_024675.4(PALB2):c.995T>A (p.Leu332His)
|
rs377149139
|
0.00002
|
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala)
|
rs138743097
|
0.00002
|
NM_058216.3(RAD51C):c.397C>G (p.Gln133Glu)
|
rs387907159
|
0.00002
|
NM_058216.3(RAD51C):c.778C>T (p.Arg260Trp)
|
rs374196453
|
0.00002
|
NM_138694.4(PKHD1):c.8036T>C (p.Leu2679Pro)
|
rs200129776
|
0.00002
|
NM_000038.6(APC):c.1009A>G (p.Met337Val)
|
rs1438780449
|
0.00001
|
NM_000038.6(APC):c.14C>T (p.Ser5Leu)
|
rs373718658
|
0.00001
|
NM_000038.6(APC):c.1626+4C>A
|
rs1202435147
|
0.00001
|
NM_000038.6(APC):c.2903G>A (p.Ser968Asn)
|
rs1554084581
|
0.00001
|
NM_000038.6(APC):c.3807A>G (p.Ile1269Met)
|
rs876658536
|
0.00001
|
NM_000038.6(APC):c.4213G>A (p.Val1405Ile)
|
rs761966904
|
0.00001
|
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala)
|
rs759441332
|
0.00001
|
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr)
|
rs752038930
|
0.00001
|
NM_000038.6(APC):c.5779C>A (p.Leu1927Ile)
|
rs730881253
|
0.00001
|
NM_000038.6(APC):c.730-3C>A
|
rs786203125
|
0.00001
|
NM_000038.6(APC):c.7573C>T (p.Arg2525Cys)
|
rs774952444
|
0.00001
|
NM_000038.6(APC):c.8233C>A (p.Pro2745Thr)
|
rs587779809
|
0.00001
|
NM_000038.6(APC):c.8416C>G (p.Pro2806Ala)
|
rs587780608
|
0.00001
|
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)
|
rs34083085
|
0.00001
|
NM_000051.4(ATM):c.1436A>G (p.Asp479Gly)
|
rs1555070958
|
0.00001
|
NM_000051.4(ATM):c.1471A>G (p.Thr491Ala)
|
rs1555071008
|
0.00001
|
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)
|
rs587780614
|
0.00001
|
NM_000051.4(ATM):c.2333A>G (p.Asn778Ser)
|
rs587779820
|
0.00001
|
NM_000051.4(ATM):c.238C>T (p.Pro80Ser)
|
rs750597831
|
0.00001
|
NM_000051.4(ATM):c.2467-7C>T
|
rs768850329
|
0.00001
|
NM_000051.4(ATM):c.3331C>G (p.Leu1111Val)
|
rs587779832
|
0.00001
|
NM_000051.4(ATM):c.4611+9C>G
|
rs760704159
|
0.00001
|
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His)
|
rs587781320
|
0.00001
|
NM_000051.4(ATM):c.6411C>G (p.Asp2137Glu)
|
rs780299607
|
0.00001
|
NM_000051.4(ATM):c.7108A>G (p.Asn2370Asp)
|
rs767494363
|
0.00001
|
NM_000051.4(ATM):c.8000T>C (p.Met2667Thr)
|
rs1060501566
|
0.00001
|
NM_000051.4(ATM):c.8593A>G (p.Ile2865Val)
|
rs786202223
|
0.00001
|
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr)
|
rs778670498
|
0.00001
|
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu)
|
rs371767164
|
0.00001
|
NM_000051.4(ATM):c.931A>G (p.Ile311Val)
|
rs876658322
|
0.00001
|
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg)
|
rs372436901
|
0.00001
|
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val)
|
rs1206016866
|
0.00001
|
NM_000059.4(BRCA2):c.1217C>G (p.Ala406Gly)
|
rs1005568368
|
0.00001
|
NM_000059.4(BRCA2):c.1427C>G (p.Ser476Cys)
|
rs80358431
|
0.00001
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
rs587782535
|
0.00001
|
NM_000059.4(BRCA2):c.1598C>T (p.Thr533Ile)
|
rs781763239
|
0.00001
|
NM_000059.4(BRCA2):c.2444T>C (p.Met815Thr)
|
rs1303254121
|
0.00001
|
NM_000059.4(BRCA2):c.263T>G (p.Leu88Arg)
|
rs80358525
|
0.00001
|
NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile)
|
rs80358530
|
0.00001
|
NM_000059.4(BRCA2):c.2849T>A (p.Val950Asp)
|
rs80358535
|
0.00001
|
NM_000059.4(BRCA2):c.2878A>G (p.Lys960Glu)
|
rs876659267
|
0.00001
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
NM_000059.4(BRCA2):c.2924T>A (p.Ile975Asn)
|
rs398122756
|
0.00001
|
NM_000059.4(BRCA2):c.3635A>T (p.Asn1212Ile)
|
rs80358609
|
0.00001
|
NM_000059.4(BRCA2):c.3731T>C (p.Ile1244Thr)
|
rs730881526
|
0.00001
|
NM_000059.4(BRCA2):c.375T>A (p.Asp125Glu)
|
rs80358616
|
0.00001
|
NM_000059.4(BRCA2):c.4662T>G (p.Ser1554Arg)
|
rs276174845
|
0.00001
|
NM_000059.4(BRCA2):c.4796A>G (p.Asn1599Ser)
|
rs149759218
|
0.00001
|
NM_000059.4(BRCA2):c.5035A>C (p.Thr1679Pro)
|
rs80358728
|
0.00001
|
NM_000059.4(BRCA2):c.517-11T>C
|
rs81002828
|
0.00001
|
NM_000059.4(BRCA2):c.5191C>A (p.His1731Asn)
|
rs80358745
|
0.00001
|
NM_000059.4(BRCA2):c.5341G>A (p.Asp1781Asn)
|
rs183478654
|
0.00001
|
NM_000059.4(BRCA2):c.5553C>G (p.Ile1851Met)
|
rs573514896
|
0.00001
|
NM_000059.4(BRCA2):c.562G>A (p.Val188Met)
|
rs1555281063
|
0.00001
|
NM_000059.4(BRCA2):c.5753A>G (p.His1918Arg)
|
rs80358804
|
0.00001
|
NM_000059.4(BRCA2):c.6097A>G (p.Ile2033Val)
|
rs772846629
|
0.00001
|
NM_000059.4(BRCA2):c.6263C>T (p.Thr2088Ile)
|
rs767567428
|
0.00001
|
NM_000059.4(BRCA2):c.6268C>T (p.His2090Tyr)
|
rs1405631299
|
0.00001
|
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met)
|
rs80358889
|
0.00001
|
NM_000059.4(BRCA2):c.6724G>A (p.Asp2242Asn)
|
rs786202002
|
0.00001
|
NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys)
|
rs730881549
|
0.00001
|
NM_000059.4(BRCA2):c.6943A>C (p.Ile2315Leu)
|
rs80358918
|
0.00001
|
NM_000059.4(BRCA2):c.6986C>T (p.Pro2329Leu)
|
rs80358925
|
0.00001
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
NM_000059.4(BRCA2):c.7651A>C (p.Lys2551Gln)
|
rs398122587
|
0.00001
|
NM_000059.4(BRCA2):c.7805+11C>A
|
rs1060504610
|
0.00001
|
NM_000059.4(BRCA2):c.8098A>C (p.Ile2700Leu)
|
rs80359053
|
0.00001
|
NM_000059.4(BRCA2):c.8866G>C (p.Glu2956Gln)
|
rs142040996
|
0.00001
|
NM_000059.4(BRCA2):c.9102G>C (p.Gln3034His)
|
rs1336395181
|
0.00001
|
NM_000059.4(BRCA2):c.9718G>A (p.Val3240Ile)
|
rs80359240
|
0.00001
|
NM_000059.4(BRCA2):c.9821T>G (p.Leu3274Trp)
|
rs431825380
|
0.00001
|
NM_000059.4(BRCA2):c.9905G>A (p.Arg3302Lys)
|
rs80359249
|
0.00001
|
NM_000061.3(BTK):c.*101del
|
rs1385972271
|
0.00001
|
NM_000075.4(CDK4):c.219-10C>T
|
rs759302811
|
0.00001
|
NM_000075.4(CDK4):c.385G>A (p.Asp129Asn)
|
rs876660606
|
0.00001
|
NM_000077.5(CDKN2A):c.2T>A (p.Met1Lys)
|
rs759871071
|
0.00001
|
NM_000090.4(COL3A1):c.3163G>A (p.Val1055Ile)
|
rs747197616
|
0.00001
|
NM_000090.4(COL3A1):c.4276A>G (p.Lys1426Glu)
|
rs908421014
|
0.00001
|
NM_000090.4(COL3A1):c.803T>C (p.Phe268Ser)
|
rs1318892403
|
0.00001
|
NM_000138.5(FBN1):c.1235T>A (p.Val412Asp)
|
rs764925097
|
0.00001
|
NM_000138.5(FBN1):c.149A>T (p.His50Leu)
|
rs886039132
|
0.00001
|
NM_000138.5(FBN1):c.2785A>T (p.Thr929Ser)
|
rs372203315
|
0.00001
|
NM_000138.5(FBN1):c.3573T>A (p.Asp1191Glu)
|
rs150912619
|
0.00001
|
NM_000138.5(FBN1):c.5423-15C>A
|
rs1426894149
|
0.00001
|
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg)
|
rs794728248
|
0.00001
|
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)
|
rs76702162
|
0.00001
|
NM_000138.5(FBN1):c.6493G>T (p.Val2165Leu)
|
rs200469438
|
0.00001
|
NM_000155.4(GALT):c.328+7T>C
|
rs774350978
|
0.00001
|
NM_000155.4(GALT):c.851C>A (p.Thr284Asn)
|
rs753364304
|
0.00001
|
NM_000155.4(GALT):c.961C>T (p.His321Tyr)
|
rs367543266
|
0.00001
|
NM_000179.3(MSH6):c.2249C>A (p.Thr750Lys)
|
rs730881817
|
0.00001
|
NM_000179.3(MSH6):c.267C>G (p.Asp89Glu)
|
rs762818044
|
0.00001
|
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)
|
rs779617676
|
0.00001
|
NM_000179.3(MSH6):c.3238C>G (p.Leu1080Val)
|
rs1553331335
|
0.00001
|
NM_000179.3(MSH6):c.3505C>G (p.Pro1169Ala)
|
rs904846776
|
0.00001
|
NM_000179.3(MSH6):c.3586G>C (p.Glu1196Gln)
|
rs75095286
|
0.00001
|
NM_000179.3(MSH6):c.3647-10A>C
|
rs756569687
|
0.00001
|
NM_000179.3(MSH6):c.4033G>A (p.Val1345Ile)
|
rs747613376
|
0.00001
|
NM_000179.3(MSH6):c.647C>T (p.Thr216Ile)
|
rs765195534
|
0.00001
|
NM_000179.3(MSH6):c.944C>G (p.Ser315Cys)
|
rs63750491
|
0.00001
|
NM_000203.5(IDUA):c.619G>C (p.Glu207Gln)
|
rs1553917102
|
0.00001
|
NM_000238.4(KCNH2):c.188C>A (p.Pro63His)
|
rs766379103
|
0.00001
|
NM_000238.4(KCNH2):c.773C>T (p.Pro258Leu)
|
rs1367019959
|
0.00001
|
NM_000249.4(MLH1):c.-11C>T
|
rs776898290
|
0.00001
|
NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn)
|
rs756099600
|
0.00001
|
NM_000249.4(MLH1):c.1415G>A (p.Arg472Lys)
|
rs63750498
|
0.00001
|
NM_000249.4(MLH1):c.1850A>C (p.Lys617Thr)
|
rs780199021
|
0.00001
|
NM_000249.4(MLH1):c.317G>A (p.Ser106Asn)
|
rs368208495
|
0.00001
|
NM_000249.4(MLH1):c.682C>A (p.Leu228Met)
|
rs751628735
|
0.00001
|
NM_000251.3(MSH2):c.1223A>G (p.Tyr408Cys)
|
rs63750379
|
0.00001
|
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)
|
rs761960690
|
0.00001
|
NM_000251.3(MSH2):c.1301C>T (p.Ala434Val)
|
rs768070717
|
0.00001
|
NM_000251.3(MSH2):c.1360A>G (p.Ile454Val)
|
rs587781627
|
0.00001
|
NM_000251.3(MSH2):c.1792G>A (p.Val598Met)
|
rs778152746
|
0.00001
|
NM_000251.3(MSH2):c.2038C>G (p.Arg680Gly)
|
rs63749932
|
0.00001
|
NM_000251.3(MSH2):c.2110A>G (p.Ile704Val)
|
rs730881764
|
0.00001
|
NM_000251.3(MSH2):c.2798C>T (p.Thr933Ile)
|
rs587779968
|
0.00001
|
NM_000251.3(MSH2):c.386C>G (p.Ser129Cys)
|
rs587779972
|
0.00001
|
NM_000251.3(MSH2):c.440T>G (p.Val147Gly)
|
rs760851623
|
0.00001
|
NM_000251.3(MSH2):c.547C>A (p.Gln183Lys)
|
rs63750037
|
0.00001
|
NM_000314.6(PTEN):c.-901G>A
|
rs1402130017
|
0.00001
|
NM_000314.6(PTEN):c.-904C>A
|
rs587779997
|
0.00001
|
NM_000314.6(PTEN):c.-917G>A
|
rs1469347068
|
0.00001
|
NM_000314.8(PTEN):c.-784G>T
|
rs1036616021
|
0.00001
|
NM_000335.5(SCN5A):c.3503C>T (p.Thr1168Ile)
|
rs779305181
|
0.00001
|
NM_000335.5(SCN5A):c.5536C>T (p.Arg1846Cys)
|
rs768246863
|
0.00001
|
NM_000371.4(TTR):c.201-16C>T
|
rs941725460
|
0.00001
|
NM_000416.3(IFNGR1):c.411G>C (p.Glu137Asp)
|
rs746829359
|
0.00001
|
NM_000455.5(STK11):c.1109-4C>T
|
rs1407794756
|
0.00001
|
NM_000455.5(STK11):c.1163A>G (p.Lys388Arg)
|
rs756877141
|
0.00001
|
NM_000455.5(STK11):c.301C>G (p.Leu101Val)
|
rs587780716
|
0.00001
|
NM_000455.5(STK11):c.817G>A (p.Ala273Thr)
|
rs587782199
|
0.00001
|
NM_000465.4(BARD1):c.1569-9T>C
|
rs753153934
|
0.00001
|
NM_000465.4(BARD1):c.2071C>T (p.Leu691Phe)
|
rs1036838204
|
0.00001
|
NM_000465.4(BARD1):c.2248G>A (p.Val750Ile)
|
rs34677017
|
0.00001
|
NM_000465.4(BARD1):c.304G>A (p.Asp102Asn)
|
rs140254589
|
0.00001
|
NM_000465.4(BARD1):c.407C>T (p.Ala136Val)
|
rs1553622698
|
0.00001
|
NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys)
|
rs1554384431
|
0.00001
|
NM_000492.4(CFTR):c.2327C>T (p.Ser776Leu)
|
rs397508365
|
0.00001
|
NM_000492.4(CFTR):c.2406G>C (p.Leu802Phe)
|
rs1314080734
|
0.00001
|
NM_000492.4(CFTR):c.2526A>G (p.Ala842=)
|
rs758128209
|
0.00001
|
NM_000492.4(CFTR):c.2619+17G>T
|
rs1439697748
|
0.00001
|
NM_000492.4(CFTR):c.2806C>A (p.Pro936Thr)
|
rs780528577
|
0.00001
|
NM_000492.4(CFTR):c.2988+13A>T
|
rs1182945291
|
0.00001
|
NM_000492.4(CFTR):c.2988+20G>A
|
rs183819332
|
0.00001
|
NM_000492.4(CFTR):c.3273G>C (p.Leu1091Phe)
|
rs752753702
|
0.00001
|
NM_000492.4(CFTR):c.4028G>T (p.Gly1343Val)
|
rs773458471
|
0.00001
|
NM_000492.4(CFTR):c.40A>G (p.Lys14Glu)
|
rs397508673
|
0.00001
|
NM_000518.4(HBB):c.-71G>A
|
rs1554918264
|
0.00001
|
NM_000518.4(HBB):c.-83G>T
|
rs1160543272
|
0.00001
|
NM_000518.5(HBB):c.316-138G>A
|
rs1444028845
|
0.00001
|
NM_000518.5(HBB):c.93-24A>G
|
rs773687221
|
0.00001
|
NM_000520.6(HEXA):c.574G>A (p.Val192Ile)
|
rs387906310
|
0.00001
|
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn)
|
rs730882101
|
0.00001
|
NM_000527.5(LDLR):c.632A>T (p.His211Leu)
|
rs879254603
|
0.00001
|
NM_000535.7(PMS2):c.1177G>A (p.Glu393Lys)
|
rs1243063129
|
0.00001
|
NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys)
|
rs587782175
|
0.00001
|
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys)
|
rs376142390
|
0.00001
|
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr)
|
rs778251286
|
0.00001
|
NM_000535.7(PMS2):c.2175A>G (p.Ala725=)
|
rs769116749
|
0.00001
|
NM_000535.7(PMS2):c.994G>A (p.Val332Ile)
|
rs1236095389
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.1150A>G (p.Met384Val)
|
rs730882009
|
0.00001
|
NM_000546.6(TP53):c.145G>A (p.Asp49Asn)
|
rs587780728
|
0.00001
|
NM_001035.3(RYR2):c.10230T>C (p.His3410=)
|
rs370078129
|
0.00001
|
NM_001035.3(RYR2):c.5279G>A (p.Arg1760Gln)
|
rs765106198
|
0.00001
|
NM_001035.3(RYR2):c.6431G>A (p.Arg2144His)
|
rs1243083109
|
0.00001
|
NM_001035.3(RYR2):c.836C>T (p.Thr279Met)
|
rs754312807
|
0.00001
|
NM_001035.3(RYR2):c.9293C>T (p.Thr3098Ile)
|
rs1227241969
|
0.00001
|
NM_001048174.2(MUTYH):c.1429T>G (p.Cys477Gly)
|
rs876659488
|
0.00001
|
NM_001048174.2(MUTYH):c.1448C>T (p.Ser483Phe)
|
rs796921537
|
0.00001
|
NM_001048174.2(MUTYH):c.1538C>T (p.Ala513Val)
|
rs751053826
|
0.00001
|
NM_001148.6(ANK2):c.1783-4A>G
|
rs755543636
|
0.00001
|
NM_001148.6(ANK2):c.4045A>G (p.Met1349Val)
|
rs765236990
|
0.00001
|
NM_001148.6(ANK2):c.6878G>T (p.Gly2293Val)
|
rs776469600
|
0.00001
|
NM_001164508.2(NEB):c.3775-22T>C
|
rs748941455
|
0.00001
|
NM_001276345.2(TNNT2):c.610-6C>T
|
rs45516702
|
0.00001
|
NM_001379610.1(SPINK1):c.193C>T (p.Arg65Trp)
|
rs536203389
|
0.00001
|
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu)
|
rs369163833
|
0.00001
|
NM_001927.4(DES):c.1105C>T (p.Arg369Cys)
|
rs1475674849
|
0.00001
|
NM_002230.4(JUP):c.1606C>G (p.Gln536Glu)
|
rs782683108
|
0.00001
|
NM_002485.5(NBN):c.1009A>G (p.Thr337Ala)
|
rs1554560492
|
0.00001
|
NM_002485.5(NBN):c.119C>T (p.Ser40Leu)
|
rs587781530
|
0.00001
|
NM_002485.5(NBN):c.1238A>G (p.Asn413Ser)
|
rs529340553
|
0.00001
|
NM_002485.5(NBN):c.171+4T>C
|
rs587782290
|
0.00001
|
NM_002485.5(NBN):c.1816G>A (p.Glu606Lys)
|
rs774324419
|
0.00001
|
NM_002755.4(MAP2K1):c.11A>G (p.Lys4Arg)
|
rs761150136
|
0.00001
|
NM_002769.5(PRSS1):c.*12T>C
|
rs749470007
|
0.00001
|
NM_002769.5(PRSS1):c.*7C>T
|
rs1334301756
|
0.00001
|
NM_002834.5(PTPN11):c.1262G>A (p.Arg421Gln)
|
rs1420362815
|
0.00001
|
NM_002834.5(PTPN11):c.652A>T (p.Thr218Ser)
|
rs768555552
|
0.00001
|
NM_002878.4(RAD51D):c.131G>A (p.Gly44Asp)
|
rs374730714
|
0.00001
|
NM_002878.4(RAD51D):c.217G>A (p.Glu73Lys)
|
rs369946779
|
0.00001
|
NM_002878.4(RAD51D):c.764G>A (p.Arg255Lys)
|
rs1056851142
|
0.00001
|
NM_003000.3(SDHB):c.638T>C (p.Met213Thr)
|
rs202014362
|
0.00001
|
NM_003098.3(SNTA1):c.200C>T (p.Ala67Val)
|
rs536755693
|
0.00001
|
NM_003239.5(TGFB3):c.289G>A (p.Glu97Lys)
|
rs769627183
|
0.00001
|
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met)
|
rs754176932
|
0.00001
|
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp)
|
rs748418894
|
0.00001
|
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys)
|
rs528216023
|
0.00001
|
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)
|
rs1131691709
|
0.00001
|
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn)
|
rs587781522
|
0.00001
|
NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu)
|
rs143248687
|
0.00001
|
NM_004329.3(BMPR1A):c.676-4A>G
|
rs929042482
|
0.00001
|
NM_004329.3(BMPR1A):c.751G>T (p.Gly251Cys)
|
rs750513716
|
0.00001
|
NM_004329.3(BMPR1A):c.987A>C (p.Arg329Ser)
|
rs753521037
|
0.00001
|
NM_004333.6(BRAF):c.1027C>T (p.Pro343Ser)
|
rs758935249
|
0.00001
|
NM_004333.6(BRAF):c.254A>G (p.Tyr85Cys)
|
rs1131691387
|
0.00001
|
NM_004360.5(CDH1):c.2179C>T (p.Leu727Phe)
|
rs578069093
|
0.00001
|
NM_004360.5(CDH1):c.387+1G>A
|
rs587781919
|
0.00001
|
NM_004360.5(CDH1):c.387+6T>C
|
rs764434962
|
0.00001
|
NM_004415.4(DSP):c.163G>T (p.Gly55Cys)
|
rs1214660308
|
0.00001
|
NM_004415.4(DSP):c.2415A>C (p.Glu805Asp)
|
rs1554107530
|
0.00001
|
NM_004415.4(DSP):c.2617C>G (p.Gln873Glu)
|
rs794728118
|
0.00001
|
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu)
|
rs773622004
|
0.00001
|
NM_004415.4(DSP):c.5412G>T (p.Gln1804His)
|
rs779809935
|
0.00001
|
NM_005359.6(SMAD4):c.470T>C (p.Met157Thr)
|
rs756675590
|
0.00001
|
NM_005591.4(MRE11):c.1718G>A (p.Gly573Glu)
|
rs587781461
|
0.00001
|
NM_005633.4(SOS1):c.1627T>C (p.Ser543Pro)
|
rs981234810
|
0.00001
|
NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr)
|
rs758699499
|
0.00001
|
NM_005633.4(SOS1):c.213+9A>G
|
rs553097014
|
0.00001
|
NM_005633.4(SOS1):c.2606A>G (p.Asn869Ser)
|
rs730881030
|
0.00001
|
NM_005633.4(SOS1):c.2945G>A (p.Arg982Gln)
|
rs1553351453
|
0.00001
|
NM_005633.4(SOS1):c.3524A>C (p.His1175Pro)
|
rs730881035
|
0.00001
|
NM_005633.4(SOS1):c.638G>A (p.Arg213Gln)
|
rs374761537
|
0.00001
|
NM_007194.4(CHEK2):c.1096-4T>C
|
rs587782840
|
0.00001
|
NM_007194.4(CHEK2):c.1214A>G (p.Asn405Ser)
|
rs369070738
|
0.00001
|
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn)
|
rs549755590
|
0.00001
|
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)
|
rs17882942
|
0.00001
|
NM_007194.4(CHEK2):c.34T>A (p.Ser12Thr)
|
rs876661027
|
0.00001
|
NM_007194.4(CHEK2):c.846+5G>A
|
rs764394796
|
0.00001
|
NM_007194.4(CHEK2):c.911T>C (p.Met304Thr)
|
rs587782033
|
0.00001
|
NM_007294.4(BRCA1):c.134A>C (p.Lys45Thr)
|
rs80356863
|
0.00001
|
NM_007294.4(BRCA1):c.1639A>C (p.Asn547His)
|
rs1060502351
|
0.00001
|
NM_007294.4(BRCA1):c.20G>A (p.Arg7His)
|
rs144792613
|
0.00001
|
NM_007294.4(BRCA1):c.216C>G (p.Ser72Arg)
|
rs80356967
|
0.00001
|
NM_007294.4(BRCA1):c.2215A>G (p.Lys739Glu)
|
rs56329598
|
0.00001
|
NM_007294.4(BRCA1):c.22G>A (p.Val8Ile)
|
rs528902306
|
0.00001
|
NM_007294.4(BRCA1):c.259T>G (p.Leu87Val)
|
rs80357091
|
0.00001
|
NM_007294.4(BRCA1):c.3010G>C (p.Glu1004Gln)
|
rs786202534
|
0.00001
|
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)
|
rs80357311
|
0.00001
|
NM_007294.4(BRCA1):c.3359T>A (p.Val1120Asp)
|
rs1361427704
|
0.00001
|
NM_007294.4(BRCA1):c.3391G>A (p.Asp1131Asn)
|
rs1555587816
|
0.00001
|
NM_007294.4(BRCA1):c.3409A>G (p.Met1137Val)
|
rs771479616
|
0.00001
|
NM_007294.4(BRCA1):c.3560G>A (p.Ser1187Asn)
|
rs80356975
|
0.00001
|
NM_007294.4(BRCA1):c.3800T>C (p.Leu1267Ser)
|
rs587782190
|
0.00001
|
NM_007294.4(BRCA1):c.3889T>A (p.Ser1297Thr)
|
rs1450793674
|
0.00001
|
NM_007294.4(BRCA1):c.397C>T (p.Arg133Cys)
|
rs80357457
|
0.00001
|
NM_007294.4(BRCA1):c.4169A>G (p.Asp1390Gly)
|
rs1165149350
|
0.00001
|
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly)
|
rs80357486
|
0.00001
|
NM_007294.4(BRCA1):c.4357+14G>T
|
rs760989937
|
0.00001
|
NM_007294.4(BRCA1):c.4427A>C (p.Lys1476Thr)
|
rs750437234
|
0.00001
|
NM_007294.4(BRCA1):c.4480G>A (p.Glu1494Lys)
|
rs80357148
|
0.00001
|
NM_007294.4(BRCA1):c.4585A>G (p.Ile1529Val)
|
rs80357095
|
0.00001
|
NM_007294.4(BRCA1):c.4730C>A (p.Ser1577Tyr)
|
rs273901741
|
0.00001
|
NM_007294.4(BRCA1):c.4765C>T (p.Arg1589Cys)
|
rs80357002
|
0.00001
|
NM_007294.4(BRCA1):c.5101C>A (p.Leu1701Met)
|
rs910555398
|
0.00001
|
NM_007294.4(BRCA1):c.5332+7G>T
|
rs773655919
|
0.00001
|
NM_007294.4(BRCA1):c.5349G>A (p.Met1783Ile)
|
rs587782019
|
0.00001
|
NM_007294.4(BRCA1):c.671-15T>A
|
rs80358058
|
0.00001
|
NM_007294.4(BRCA1):c.93C>G (p.Ile31Met)
|
rs80357000
|
0.00001
|
NM_007373.4(SHOC2):c.109G>C (p.Glu37Gln)
|
rs1170704957
|
0.00001
|
NM_014000.3(VCL):c.238A>C (p.Lys80Gln)
|
rs775532257
|
0.00001
|
NM_014000.3(VCL):c.3019G>C (p.Gly1007Arg)
|
rs1554819630
|
0.00001
|
NM_014297.5(ETHE1):c.112T>G (p.Tyr38Asp)
|
rs1442758927
|
0.00001
|
NM_015141.4(GPD1L):c.293A>C (p.Gln98Pro)
|
rs745770005
|
0.00001
|
NM_020297.4(ABCC9):c.3772-10C>T
|
rs1315658031
|
0.00001
|
NM_024422.6(DSC2):c.646A>G (p.Thr216Ala)
|
rs755298693
|
0.00001
|
NM_024675.4(PALB2):c.1361C>T (p.Ser454Phe)
|
rs587782842
|
0.00001
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)
|
rs746582620
|
0.00001
|
NM_024675.4(PALB2):c.2428C>T (p.Pro810Ser)
|
rs759894786
|
0.00001
|
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)
|
rs763191051
|
0.00001
|
NM_024675.4(PALB2):c.3125C>G (p.Thr1042Ser)
|
rs587780215
|
0.00001
|
NM_024675.4(PALB2):c.3391A>G (p.Ile1131Val)
|
rs774517454
|
0.00001
|
NM_024675.4(PALB2):c.3451C>T (p.Leu1151Phe)
|
rs786203462
|
0.00001
|
NM_030662.4(MAP2K2):c.529-5T>C
|
rs766943752
|
0.00001
|
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser)
|
rs777511615
|
0.00001
|
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu)
|
rs756946068
|
0.00001
|
NM_032043.3(BRIP1):c.205G>A (p.Gly69Arg)
|
rs372581879
|
0.00001
|
NM_032043.3(BRIP1):c.2477A>G (p.Asn826Ser)
|
rs760127237
|
0.00001
|
NM_032043.3(BRIP1):c.2723C>T (p.Thr908Ile)
|
rs786201919
|
0.00001
|
NM_032043.3(BRIP1):c.3290A>C (p.Glu1097Ala)
|
rs876658746
|
0.00001
|
NM_058216.3(RAD51C):c.340G>A (p.Gly114Arg)
|
rs786203690
|
0.00001
|
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)
|
rs765730332
|
0.00001
|
NM_058216.3(RAD51C):c.601C>G (p.Leu201Val)
|
rs531838785
|
0.00001
|
NM_058216.3(RAD51C):c.730A>G (p.Ile244Val)
|
rs199886026
|
0.00001
|
NM_058216.3(RAD51C):c.73G>A (p.Val25Met)
|
rs757116652
|
0.00001
|
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln)
|
rs778592523
|
0.00001
|
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)
|
rs764880309
|
0.00001
|
NM_201596.3(CACNB2):c.1828C>T (p.Arg610Trp)
|
rs545095722
|
0.00001
|
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu)
|
rs760335676
|
|
NM_000016.6(ACADM):c.526G>A (p.Ala176Thr)
|
rs200754053
|
|
NM_000038.6(APC):c.1100C>G (p.Ser367Cys)
|
rs1554080012
|
|
NM_000038.6(APC):c.1234C>G (p.Gln412Glu)
|
rs876660802
|
|
NM_000038.6(APC):c.1318G>A (p.Ala440Thr)
|
rs1064793023
|
|
NM_000038.6(APC):c.1333C>G (p.Gln445Glu)
|
rs876658802
|
|
NM_000038.6(APC):c.1366C>T (p.Leu456Phe)
|
rs876660195
|
|
NM_000038.6(APC):c.193C>A (p.Gln65Lys)
|
rs863225320
|
|
NM_000038.6(APC):c.195G>C (p.Gln65His)
|
rs1554069548
|
|
NM_000038.6(APC):c.221-5T>C
|
rs1057524155
|
|
NM_000038.6(APC):c.234T>G (p.Asp78Glu)
|
rs765434321
|
|
NM_000038.6(APC):c.2812A>G (p.Thr938Ala)
|
rs965844436
|
|
NM_000038.6(APC):c.3775A>T (p.Ile1259Leu)
|
rs762391822
|
|
NM_000038.6(APC):c.4225C>A (p.Pro1409Thr)
|
rs1554085637
|
|
NM_000038.6(APC):c.4252A>T (p.Ile1418Leu)
|
rs777386397
|
|
NM_000038.6(APC):c.4693G>A (p.Asp1565Asn)
|
rs767138124
|
|
NM_000038.6(APC):c.4693G>T (p.Asp1565Tyr)
|
rs767138124
|
|
NM_000038.6(APC):c.5197C>T (p.Pro1733Ser)
|
rs1441448668
|
|
NM_000038.6(APC):c.531+9C>G
|
rs1554071622
|
|
NM_000038.6(APC):c.5315C>G (p.Pro1772Arg)
|
rs1554086633
|
|
NM_000038.6(APC):c.566T>G (p.Leu189Trp)
|
rs1554072581
|
|
NM_000038.6(APC):c.5734G>A (p.Ala1912Thr)
|
rs1554086930
|
|
NM_000038.6(APC):c.6448C>G (p.Leu2150Val)
|
rs1263640330
|
|
NM_000038.6(APC):c.6488A>T (p.Lys2163Ile)
|
rs1554087458
|
|
NM_000038.6(APC):c.730-3C>T
|
rs786203125
|
|
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile)
|
rs587778037
|
|
NM_000038.6(APC):c.7967A>G (p.Asp2656Gly)
|
rs1463203731
|
|
NM_000038.6(APC):c.800G>C (p.Gly267Ala)
|
rs747759906
|
|
NM_000038.6(APC):c.8038C>G (p.Pro2680Ala)
|
rs587780553
|
|
NM_000038.6(APC):c.8128A>C (p.Ser2710Arg)
|
rs760472102
|
|
NM_000038.6(APC):c.8251A>G (p.Thr2751Ala)
|
rs1060503341
|
|
NM_000038.6(APC):c.8281C>G (p.Pro2761Ala)
|
rs1060503332
|
|
NM_000038.6(APC):c.8441_8444del (p.Lys2814fs)
|
rs879253985
|
|
NM_000051.4(ATM):c.1364T>C (p.Val455Ala)
|
rs876658772
|
|
NM_000051.4(ATM):c.1483A>G (p.Ile495Val)
|
rs786201969
|
|
NM_000051.4(ATM):c.1538A>C (p.Gln513Pro)
|
rs753109010
|
|
NM_000051.4(ATM):c.1651G>T (p.Val551Phe)
|
rs1555071742
|
|
NM_000051.4(ATM):c.1901A>T (p.Glu634Val)
|
rs1555073069
|
|
NM_000051.4(ATM):c.2450A>G (p.Asp817Gly)
|
rs587779821
|
|
NM_000051.4(ATM):c.2466+8T>A
|
rs765619483
|
|
NM_000051.4(ATM):c.2471C>T (p.Ser824Phe)
|
rs1555082060
|
|
NM_000051.4(ATM):c.2999A>T (p.Asn1000Ile)
|
rs1555085128
|
|
NM_000051.4(ATM):c.3059C>T (p.Thr1020Ile)
|
rs186626274
|
|
NM_000051.4(ATM):c.3994-9C>T
|
rs767111803
|
|
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser)
|
rs777812804
|
|
NM_000051.4(ATM):c.4953G>T (p.Leu1651Phe)
|
rs786201297
|
|
NM_000051.4(ATM):c.5358T>A (p.Phe1786Leu)
|
rs876659725
|
|
NM_000051.4(ATM):c.672G>C (p.Lys224Asn)
|
rs769731317
|
|
NM_000051.4(ATM):c.7516-9del
|
rs573494809
|
|
NM_000051.4(ATM):c.8140C>G (p.Gln2714Glu)
|
rs1060501695
|
|
NM_000051.4(ATM):c.8312C>T (p.Thr2771Ile)
|
rs771781881
|
|
NM_000051.4(ATM):c.8851G>C (p.Val2951Leu)
|
rs1555151205
|
|
NM_000051.4(ATM):c.8987+10A>G
|
rs1060504308
|
|
NM_000051.4(ATM):c.9014T>C (p.Val3005Ala)
|
rs876659968
|
|
NM_000051.4(ATM):c.962A>G (p.Asn321Ser)
|
rs1555068398
|
|
NM_000053.4(ATP7B):c.2044A>G (p.Met682Val)
|
rs1555291836
|
|
NM_000053.4(ATP7B):c.3215G>A (p.Gly1072Asp)
|
rs1397311718
|
|
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)
|
rs377297166
|
|
NM_000053.4(ATP7B):c.4064G>T (p.Gly1355Val)
|
rs1305262063
|
|
NM_000053.4(ATP7B):c.4066T>C (p.Ser1356Pro)
|
rs1555282748
|
|
NM_000053.4(ATP7B):c.4127A>C (p.Tyr1376Ser)
|
rs1555282338
|
|
NM_000059.4(BRCA2):c.*8C>T
|
rs747134610
|
|
NM_000059.4(BRCA2):c.-12T>C
|
rs276174795
|
|
NM_000059.4(BRCA2):c.-15A>T
|
rs138705202
|
|
NM_000059.4(BRCA2):c.10127C>G (p.Ser3376Ter)
|
rs1555290049
|
|
NM_000059.4(BRCA2):c.1015G>A (p.Asp339Asn)
|
rs1555281693
|
|
NM_000059.4(BRCA2):c.10162A>G (p.Thr3388Ala)
|
rs431825278
|
|
NM_000059.4(BRCA2):c.1166C>T (p.Pro389Leu)
|
rs397507263
|
|
NM_000059.4(BRCA2):c.1211A>G (p.Asn404Ser)
|
rs80358414
|
|
NM_000059.4(BRCA2):c.1211A>T (p.Asn404Ile)
|
rs80358414
|
|
NM_000059.4(BRCA2):c.1277A>C (p.Lys426Thr)
|
rs1421854019
|
|
NM_000059.4(BRCA2):c.1401G>C (p.Lys467Asn)
|
rs276174808
|
|
NM_000059.4(BRCA2):c.1625T>C (p.Ile542Thr)
|
rs397507273
|
|
NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile)
|
rs587782713
|
|
NM_000059.4(BRCA2):c.1784A>G (p.His595Arg)
|
rs80358460
|
|
NM_000059.4(BRCA2):c.1816C>T (p.Pro606Ser)
|
rs765924757
|
|
NM_000059.4(BRCA2):c.191C>T (p.Thr64Ile)
|
rs397507615
|
|
NM_000059.4(BRCA2):c.1939T>C (p.Cys647Arg)
|
rs1555282367
|
|
NM_000059.4(BRCA2):c.2135T>C (p.Leu712Pro)
|
rs80358490
|
|
NM_000059.4(BRCA2):c.2224C>A (p.Gln742Lys)
|
rs80358494
|
|
NM_000059.4(BRCA2):c.230C>T (p.Thr77Ile)
|
rs1003162870
|
|
NM_000059.4(BRCA2):c.2734A>G (p.Thr912Ala)
|
rs1555282813
|
|
NM_000059.4(BRCA2):c.2836G>C (p.Asp946His)
|
rs80358534
|
|
NM_000059.4(BRCA2):c.2861A>G (p.Glu954Gly)
|
rs1555282915
|
|
NM_000059.4(BRCA2):c.2895G>C (p.Met965Ile)
|
rs1555282929
|
|
NM_000059.4(BRCA2):c.291_296del (p.Glu97_Leu98del)
|
rs80359362
|
|
NM_000059.4(BRCA2):c.2951A>G (p.Glu984Gly)
|
rs767964776
|
|
NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr)
|
rs374769365
|
|
NM_000059.4(BRCA2):c.3070A>G (p.Ile1024Val)
|
rs876659687
|
|
NM_000059.4(BRCA2):c.3154G>A (p.Ala1052Thr)
|
rs730881520
|
|
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile)
|
rs431825304
|
|
NM_000059.4(BRCA2):c.3247A>G (p.Asn1083Asp)
|
rs777994248
|
|
NM_000059.4(BRCA2):c.3329A>C (p.Glu1110Ala)
|
rs587782072
|
|
NM_000059.4(BRCA2):c.3403T>G (p.Tyr1135Asp)
|
rs80358583
|
|
NM_000059.4(BRCA2):c.3419G>A (p.Ser1140Asn)
|
rs80358585
|
|
NM_000059.4(BRCA2):c.3743G>T (p.Ser1248Ile)
|
rs1555283383
|
|
NM_000059.4(BRCA2):c.3911C>G (p.Thr1304Ser)
|
rs1555283472
|
|
NM_000059.4(BRCA2):c.3994C>G (p.His1332Asp)
|
rs863224588
|
|
NM_000059.4(BRCA2):c.4090A>G (p.Ile1364Val)
|
rs56248502
|
|
NM_000059.4(BRCA2):c.4213A>G (p.Asn1405Asp)
|
rs1555283633
|
|
NM_000059.4(BRCA2):c.4218A>C (p.Lys1406Asn)
|
rs1555283634
|
|
NM_000059.4(BRCA2):c.425+3A>G
|
rs932657676
|
|
NM_000059.4(BRCA2):c.4288A>G (p.Thr1430Ala)
|
rs1555283691
|
|
NM_000059.4(BRCA2):c.430G>T (p.Val144Phe)
|
rs876661259
|
|
NM_000059.4(BRCA2):c.457C>T (p.Pro153Ser)
|
rs1555280950
|
|
NM_000059.4(BRCA2):c.475+5G>T
|
rs730881504
|
|
NM_000059.4(BRCA2):c.476T>C (p.Val159Ala)
|
rs81002884
|
|
NM_000059.4(BRCA2):c.4894A>C (p.Ser1632Arg)
|
rs80358712
|
|
NM_000059.4(BRCA2):c.4958C>T (p.Thr1653Ile)
|
rs1555284004
|
|
NM_000059.4(BRCA2):c.4969A>G (p.Asn1657Asp)
|
rs587781599
|
|
NM_000059.4(BRCA2):c.5039C>A (p.Ser1680Tyr)
|
rs1555284041
|
|
NM_000059.4(BRCA2):c.5131G>A (p.Val1711Ile)
|
rs587782067
|
|
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del)
|
rs397507349
|
|
NM_000059.4(BRCA2):c.5260G>A (p.Asp1754Asn)
|
rs771571938
|
|
NM_000059.4(BRCA2):c.5272_5274del (p.Asn1758del)
|
rs587780655
|
|
NM_000059.4(BRCA2):c.5284T>A (p.Tyr1762Asn)
|
rs1192019733
|
|
NM_000059.4(BRCA2):c.5324T>C (p.Val1775Ala)
|
rs1555284172
|
|
NM_000059.4(BRCA2):c.5537T>G (p.Ile1846Arg)
|
rs763330257
|
|
NM_000059.4(BRCA2):c.5575A>G (p.Ile1859Val)
|
rs397507354
|
|
NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro)
|
rs730881538
|
|
NM_000059.4(BRCA2):c.5734G>A (p.Glu1912Lys)
|
rs397507800
|
|
NM_000059.4(BRCA2):c.5777G>A (p.Ser1926Asn)
|
rs869320795
|
|
NM_000059.4(BRCA2):c.5867A>G (p.Asp1956Gly)
|
rs1309562690
|
|
NM_000059.4(BRCA2):c.5879GTA[1] (p.Ser1961del)
|
rs1026127409
|
|
NM_000059.4(BRCA2):c.5917A>C (p.Asn1973His)
|
rs1555284460
|
|
NM_000059.4(BRCA2):c.5990G>A (p.Arg1997Lys)
|
rs1064793478
|
|
NM_000059.4(BRCA2):c.6062A>G (p.His2021Arg)
|
rs780621780
|
|
NM_000059.4(BRCA2):c.6119T>C (p.Ile2040Thr)
|
rs876659473
|
|
NM_000059.4(BRCA2):c.6131G>A (p.Gly2044Asp)
|
rs56191579
|
|
NM_000059.4(BRCA2):c.631+8T>C
|
rs1555281111
|
|
NM_000059.4(BRCA2):c.6329A>C (p.Asp2110Ala)
|
rs80358873
|
|
NM_000059.4(BRCA2):c.6356A>T (p.Asn2119Ile)
|
rs1555284650
|
|
NM_000059.4(BRCA2):c.6433A>C (p.Asn2145His)
|
rs1555284690
|
|
NM_000059.4(BRCA2):c.6454T>A (p.Ser2152Thr)
|
rs1555284705
|
|
NM_000059.4(BRCA2):c.6688A>G (p.Ile2230Val)
|
rs587779366
|
|
NM_000059.4(BRCA2):c.6691G>A (p.Ala2231Thr)
|
rs758379999
|
|
NM_000059.4(BRCA2):c.6744T>A (p.His2248Gln)
|
rs1555284842
|
|
NM_000059.4(BRCA2):c.6760T>C (p.Phe2254Leu)
|
rs1555284847
|
|
NM_000059.4(BRCA2):c.683A>T (p.Asn228Ile)
|
rs398122566
|
|
NM_000059.4(BRCA2):c.6916G>A (p.Ala2306Thr)
|
rs730881550
|
|
NM_000059.4(BRCA2):c.6937+13T>G
|
rs587780868
|
|
NM_000059.4(BRCA2):c.6941C>A (p.Thr2314Lys)
|
rs1177474377
|
|
NM_000059.4(BRCA2):c.6971A>C (p.His2324Pro)
|
rs398122574
|
|
NM_000059.4(BRCA2):c.7008-5T>C
|
rs397507380
|
|
NM_000059.4(BRCA2):c.7030A>G (p.Ile2344Val)
|
rs876658231
|
|
NM_000059.4(BRCA2):c.7081C>T (p.His2361Tyr)
|
rs786203493
|
|
NM_000059.4(BRCA2):c.7141C>G (p.Pro2381Ala)
|
rs777305503
|
|
NM_000059.4(BRCA2):c.7142C>A (p.Pro2381Gln)
|
rs746751519
|
|
NM_000059.4(BRCA2):c.7252A>G (p.Arg2418Gly)
|
rs80358953
|
|
NM_000059.4(BRCA2):c.7354A>G (p.Asn2452Asp)
|
rs398122580
|
|
NM_000059.4(BRCA2):c.7362T>G (p.Ile2454Met)
|
rs1555286087
|
|
NM_000059.4(BRCA2):c.7601C>G (p.Ala2534Gly)
|
rs74047012
|
|
NM_000059.4(BRCA2):c.7603T>C (p.Cys2535Arg)
|
rs1555286309
|
|
NM_000059.4(BRCA2):c.7928C>T (p.Ala2643Val)
|
rs80359018
|
|
NM_000059.4(BRCA2):c.7977-20A>T
|
rs1555286924
|
|
NM_000059.4(BRCA2):c.7985C>A (p.Thr2662Lys)
|
rs431825362
|
|
NM_000059.4(BRCA2):c.8091C>A (p.Ser2697Arg)
|
rs140782158
|
|
NM_000059.4(BRCA2):c.8252T>G (p.Ile2751Ser)
|
rs1555287065
|
|
NM_000059.4(BRCA2):c.8291C>T (p.Ala2764Val)
|
rs1555287074
|
|
NM_000059.4(BRCA2):c.8299C>T (p.Pro2767Ser)
|
rs587782619
|
|
NM_000059.4(BRCA2):c.8468A>G (p.Gln2823Arg)
|
rs876660101
|
|
NM_000059.4(BRCA2):c.8487+4T>C
|
rs81002801
|
|
NM_000059.4(BRCA2):c.8501C>G (p.Thr2834Arg)
|
rs1555287733
|
|
NM_000059.4(BRCA2):c.8639C>G (p.Thr2880Arg)
|
rs1555288123
|
|
NM_000059.4(BRCA2):c.8692T>G (p.Leu2898Val)
|
rs1555288160
|
|
NM_000059.4(BRCA2):c.8732C>T (p.Ala2911Val)
|
rs80359130
|
|
NM_000059.4(BRCA2):c.8881G>A (p.Gly2961Ser)
|
rs878853614
|
|
NM_000059.4(BRCA2):c.88A>G (p.Asn30Asp)
|
rs1253463092
|
|
NM_000059.4(BRCA2):c.9035C>G (p.Ala3012Gly)
|
rs768335521
|
|
NM_000059.4(BRCA2):c.9094A>G (p.Lys3032Glu)
|
rs1555288501
|
|
NM_000059.4(BRCA2):c.9117+16T>G
|
rs780689895
|
|
NM_000059.4(BRCA2):c.9152C>A (p.Pro3051Gln)
|
rs1555288537
|
|
NM_000059.4(BRCA2):c.9634G>A (p.Gly3212Arg)
|
rs55775473
|
|
NM_000059.4(BRCA2):c.9730G>T (p.Val3244Phe)
|
rs11571831
|
|
NM_000059.4(BRCA2):c.977G>A (p.Ser326Asn)
|
rs587782691
|
|
NM_000059.4(BRCA2):c.9839C>G (p.Pro3280Arg)
|
rs80359246
|
|
NM_000059.4(BRCA2):c.9865T>C (p.Phe3289Leu)
|
rs1555289980
|
|
NM_000075.4(CDK4):c.724G>A (p.Val242Ile)
|
rs876658903
|
|
NM_000075.4(CDK4):c.868C>A (p.Leu290Met)
|
rs1555201026
|
|
NM_000077.5(CDKN2A):c.104G>A (p.Gly35Glu)
|
rs746834149
|
|
NM_000077.5(CDKN2A):c.219C>G (p.Ala73=)
|
rs730881679
|
|
NM_000077.5(CDKN2A):c.292C>T (p.His98Tyr)
|
rs1064793953
|
|
NM_000077.5(CDKN2A):c.301G>C (p.Gly101Arg)
|
rs104894094
|
|
NM_000077.5(CDKN2A):c.458-9_458-8delinsT
|
rs1554653291
|
|
NM_000090.4(COL3A1):c.528+5G>A
|
rs794728038
|
|
NM_000138.5(FBN1):c.1181T>G (p.Val394Gly)
|
rs1555400427
|
|
NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1420T>G (p.Cys474Gly)
|
rs1555400380
|
|
NM_000138.5(FBN1):c.1630G>A (p.Gly544Arg)
|
rs1555400063
|
|
NM_000138.5(FBN1):c.1640T>A (p.Ile547Asn)
|
rs112269822
|
|
NM_000138.5(FBN1):c.1837G>T (p.Asp613Tyr)
|
rs1555399943
|
|
NM_000138.5(FBN1):c.1847A>G (p.Glu616Gly)
|
rs25457
|
|
NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr)
|
rs1555399836
|
|
NM_000138.5(FBN1):c.1967A>G (p.His656Arg)
|
rs1555399777
|
|
NM_000138.5(FBN1):c.2042C>A (p.Ser681Tyr)
|
rs1555399766
|
|
NM_000138.5(FBN1):c.2171T>C (p.Ile724Thr)
|
rs878853677
|
|
NM_000138.5(FBN1):c.2225T>C (p.Leu742Pro)
|
rs1555399377
|
|
NM_000138.5(FBN1):c.2386T>C (p.Phe796Leu)
|
rs1555399266
|
|
NM_000138.5(FBN1):c.2420-9_2420-8delinsAGC
|
rs1555399217
|
|
NM_000138.5(FBN1):c.3209-13T>A
|
rs1555398650
|
|
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser)
|
rs137854468
|
|
NM_000138.5(FBN1):c.3380G>A (p.Gly1127Asp)
|
rs1064794882
|
|
NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys)
|
rs1555398511
|
|
NM_000138.5(FBN1):c.3575G>A (p.Arg1192Lys)
|
rs751764864
|
|
NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val)
|
rs1555398387
|
|
NM_000138.5(FBN1):c.3707G>A (p.Cys1236Tyr)
|
rs1555398377
|
|
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser)
|
rs140638
|
|
NM_000138.5(FBN1):c.4146T>A (p.Asn1382Lys)
|
rs794728218
|
|
NM_000138.5(FBN1):c.4163G>C (p.Arg1388Pro)
|
rs749196340
|
|
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup)
|
rs1555397404
|
|
NM_000138.5(FBN1):c.47T>G (p.Leu16Arg)
|
rs1555407424
|
|
NM_000138.5(FBN1):c.4984A>T (p.Thr1662Ser)
|
rs1471557498
|
|
NM_000138.5(FBN1):c.5185T>C (p.Trp1729Arg)
|
rs1555396762
|
|
NM_000138.5(FBN1):c.538+12del
|
rs755209856
|
|
NM_000138.5(FBN1):c.5638T>G (p.Phe1880Val)
|
rs1555395977
|
|
NM_000138.5(FBN1):c.5643A>C (p.Lys1881Asn)
|
rs1555395975
|
|
NM_000138.5(FBN1):c.5672-6T>A
|
rs1555395850
|
|
NM_000138.5(FBN1):c.5755G>A (p.Gly1919Ser)
|
rs867549163
|
|
NM_000138.5(FBN1):c.5898_5912del (p.Asp1967_Cys1971del)
|
rs1555395744
|
|
NM_000138.5(FBN1):c.6085T>A (p.Cys2029Ser)
|
rs1555395477
|
|
NM_000138.5(FBN1):c.6379+9C>T
|
rs1555395223
|
|
NM_000138.5(FBN1):c.6683A>G (p.Tyr2228Cys)
|
rs1555394908
|
|
NM_000138.5(FBN1):c.66C>A (p.Ser22Arg)
|
rs1555407420
|
|
NM_000138.5(FBN1):c.6732G>T (p.Met2244Ile)
|
rs780960909
|
|
NM_000138.5(FBN1):c.6801C>G (p.Asn2267Lys)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6854A>T (p.Asp2285Val)
|
rs1160071679
|
|
NM_000138.5(FBN1):c.7003C>G (p.Arg2335Gly)
|
rs794728262
|
|
NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr)
|
rs1555394580
|
|
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys)
|
rs754047254
|
|
NM_000138.5(FBN1):c.7784G>A (p.Gly2595Asp)
|
rs397515857
|
|
NM_000138.5(FBN1):c.7816G>A (p.Val2606Ile)
|
rs1172183618
|
|
NM_000138.5(FBN1):c.7819+3A>C
|
rs1555394135
|
|
NM_000138.5(FBN1):c.8005_8019del (p.Gly2669_Gly2673del)
|
rs1555393829
|
|
NM_000138.5(FBN1):c.8078G>A (p.Gly2693Asp)
|
rs1555393664
|
|
NM_000138.5(FBN1):c.8083G>A (p.Gly2695Arg)
|
rs1555393663
|
|
NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile)
|
rs747213800
|
|
NM_000138.5(FBN1):c.90G>T (p.Glu30Asp)
|
rs778831047
|
|
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr)
|
rs1555401011
|
|
NM_000138.5(FBN1):c.989-32GT[7]
|
rs147092263
|
|
NM_000155.4(GALT):c.172G>A (p.Glu58Lys)
|
rs1554709147
|
|
NM_000155.4(GALT):c.211C>G (p.Leu71Val)
|
rs143994870
|
|
NM_000155.4(GALT):c.275C>A (p.Thr92Asn)
|
rs1554709207
|
|
NM_000155.4(GALT):c.329G>A (p.Gly110Glu)
|
rs1057523885
|
|
NM_000155.4(GALT):c.377+7A>G
|
rs376026879
|
|
NM_000155.4(GALT):c.715T>C (p.Trp239Arg)
|
rs1336294207
|
|
NM_000155.4(GALT):c.785GGC[3] (p.Arg263dup)
|
rs1554709431
|
|
NM_000155.4(GALT):c.902A>G (p.His301Arg)
|
rs886042065
|
|
NM_000155.4(GALT):c.91C>A (p.His31Asn)
|
rs111033643
|
|
NM_000169.3(GLA):c.132G>T (p.Trp44Cys)
|
rs398123202
|
|
NM_000169.3(GLA):c.265C>T (p.Leu89Phe)
|
rs1555986305
|
|
NM_000169.3(GLA):c.958A>C (p.Asn320His)
|
rs1555984950
|
|
NM_000170.3(GLDC):c.871T>C (p.Cys291Arg)
|
rs141014950
|
|
NM_000179.3(MSH6):c.1076G>A (p.Ser359Asn)
|
rs1278591662
|
|
NM_000179.3(MSH6):c.1267C>G (p.Leu423Val)
|
rs587781657
|
|
NM_000179.3(MSH6):c.173G>A (p.Arg58Lys)
|
rs1064795187
|
|
NM_000179.3(MSH6):c.2328A>T (p.Gln776His)
|
rs1463214972
|
|
NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu)
|
rs1553413710
|
|
NM_000179.3(MSH6):c.2356T>A (p.Tyr786Asn)
|
rs773193199
|
|
NM_000179.3(MSH6):c.248C>G (p.Ala83Gly)
|
rs876661197
|
|
NM_000179.3(MSH6):c.2534A>G (p.Tyr845Cys)
|
rs1064794190
|
|
NM_000179.3(MSH6):c.2744C>G (p.Ala915Gly)
|
rs766427609
|
|
NM_000179.3(MSH6):c.2963G>T (p.Arg988Leu)
|
rs115386788
|
|
NM_000179.3(MSH6):c.3171G>T (p.Leu1057Phe)
|
rs1553414599
|
|
NM_000179.3(MSH6):c.3172+9_3172+10insGTTC
|
rs1553414607
|
|
NM_000179.3(MSH6):c.320C>T (p.Pro107Leu)
|
rs878853732
|
|
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg)
|
rs63750753
|
|
NM_000179.3(MSH6):c.3307T>C (p.Phe1103Leu)
|
rs1553331522
|
|
NM_000179.3(MSH6):c.3308T>G (p.Phe1103Cys)
|
rs1553331529
|
|
NM_000179.3(MSH6):c.3328C>A (p.Pro1110Thr)
|
rs374070511
|
|
NM_000179.3(MSH6):c.3341T>A (p.Leu1114Gln)
|
rs1553331600
|
|
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)
|
rs376799914
|
|
NM_000179.3(MSH6):c.3557-7_3557-4del
|
rs267608102
|
|
NM_000179.3(MSH6):c.369A>T (p.Lys123Asn)
|
rs587782106
|
|
NM_000179.3(MSH6):c.4002-11_4002-9del
|
rs754951578
|
|
NM_000179.3(MSH6):c.4058T>C (p.Leu1353Ser)
|
rs56238300
|
|
NM_000179.3(MSH6):c.628-7C>T
|
rs373129248
|
|
NM_000179.3(MSH6):c.62A>G (p.Asn21Ser)
|
rs267608025
|
|
NM_000179.3(MSH6):c.893G>A (p.Arg298Gln)
|
rs765237563
|
|
NM_000182.5(HADHA):c.-17G>A
|
rs1553316732
|
|
NM_000215.4(JAK3):c.1073TCT[1] (p.Phe359del)
|
rs1555745343
|
|
NM_000215.4(JAK3):c.3253C>T (p.Arg1085Trp)
|
rs1265005806
|
|
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu)
|
rs12720449
|
|
NM_000218.3(KCNQ1):c.580G>C (p.Ala194Pro)
|
rs199472699
|
|
NM_000228.3(LAMB3):c.947G>A (p.Cys316Tyr)
|
rs1553277738
|
|
NM_000237.3(LPL):c.213C>G (p.His71Gln)
|
rs11542065
|
|
NM_000237.3(LPL):c.89-10del
|
rs547644955
|
|
NM_000238.4(KCNH2):c.1519C>T (p.Pro507Ser)
|
rs794728371
|
|
NM_000243.3(MEFV):c.1622T>C (p.Val541Ala)
|
rs922232615
|
|
NM_000243.3(MEFV):c.369C>A (p.His123Gln)
|
rs587783379
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys)
|
rs143009528
|
|
NM_000249.4(MLH1):c.1184C>T (p.Ala395Val)
|
rs1064794142
|
|
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys)
|
rs370687064
|
|
NM_000249.4(MLH1):c.1309C>G (p.Pro437Ala)
|
rs587782273
|
|
NM_000249.4(MLH1):c.1559T>C (p.Val520Ala)
|
rs1200485334
|
|
NM_000249.4(MLH1):c.1569G>T (p.Glu523Asp)
|
rs63751680
|
|
NM_000249.4(MLH1):c.1732-4C>G
|
rs876658984
|
|
NM_000249.4(MLH1):c.1734G>C (p.Glu578Asp)
|
rs1553662589
|
|
NM_000249.4(MLH1):c.1780G>A (p.Glu594Lys)
|
rs1553662786
|
|
NM_000249.4(MLH1):c.1853A>T (p.Lys618Met)
|
rs63750449
|
|
NM_000249.4(MLH1):c.1897-10C>T
|
rs1553663687
|
|
NM_000249.4(MLH1):c.2135G>C (p.Trp712Ser)
|
rs63750561
|
|
NM_000249.4(MLH1):c.2194A>C (p.Lys732Gln)
|
rs267607906
|
|
NM_000249.4(MLH1):c.2266T>G (p.Cys756Gly)
|
rs765480781
|
|
NM_000249.4(MLH1):c.319A>G (p.Ile107Val)
|
rs572906317
|
|
NM_000249.4(MLH1):c.453+10G>T
|
rs1553642170
|
|
NM_000249.4(MLH1):c.539T>C (p.Val180Ala)
|
rs63750102
|
|
NM_000249.4(MLH1):c.92C>T (p.Ala31Val)
|
rs730882127
|
|
NM_000251.3(MSH2):c.-9G>A
|
rs547444746
|
|
NM_000251.3(MSH2):c.1225C>A (p.Gln409Lys)
|
rs151244108
|
|
NM_000251.3(MSH2):c.1361T>G (p.Ile454Arg)
|
rs1060502025
|
|
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)
|
rs587779133
|
|
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala)
|
rs757268664
|
|
NM_000251.3(MSH2):c.2729A>G (p.Gln910Arg)
|
rs1553370878
|
|
NM_000251.3(MSH2):c.478C>A (p.Gln160Lys)
|
rs63751426
|
|
NM_000251.3(MSH2):c.4_21dup (p.Ala2_Glu7dup)
|
rs281864943
|
|
NM_000251.3(MSH2):c.786G>T (p.Glu262Asp)
|
rs754820584
|
|
NM_000251.3(MSH2):c.917C>T (p.Ala306Val)
|
rs1553352536
|
|
NM_000251.3(MSH2):c.968C>T (p.Ser323Phe)
|
rs63750732
|
|
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)
|
rs187705120
|
|
NM_000256.3(MYBPC3):c.909-8T>C
|
rs1260212325
|
|
NM_000257.4(MYH7):c.2572C>G (p.Arg858Gly)
|
rs2754158
|
|
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
|
rs141764279
|
|
NM_000257.4(MYH7):c.5704G>A (p.Glu1902Lys)
|
rs187073962
|
|
NM_000258.3(MYL3):c.397T>A (p.Phe133Ile)
|
rs1553639870
|
|
NM_000271.5(NPC1):c.1531A>G (p.Thr511Ala)
|
rs1555636594
|
|
NM_000271.5(NPC1):c.1947+10G>T
|
rs71534236
|
|
NM_000282.4(PCCA):c.947T>A (p.Met316Lys)
|
rs137861347
|
|
NM_000308.4(CTSA):c.626CCT[1] (p.Ser210del)
|
rs1555832780
|
|
NM_000314.6(PTEN):c.-856C>T
|
rs587779996
|
|
NM_000314.6(PTEN):c.-858C>G
|
rs1034838800
|
|
NM_000314.8(PTEN):c.1021T>G (p.Phe341Val)
|
rs1554825652
|
|
NM_000314.8(PTEN):c.635A>G (p.Asn212Ser)
|
rs1554825156
|
|
NM_000335.5(SCN5A):c.1338+3G>A
|
rs1553704675
|
|
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile)
|
rs199473118
|
|
NM_000335.5(SCN5A):c.5421T>A (p.Phe1807Leu)
|
rs1553692688
|
|
NM_000344.4(SMN1):c.835-14T>A
|
rs370146091
|
|
NM_000344.4(SMN1):c.835-24T>A
|
rs748758067
|
|
NM_000344.4(SMN1):c.835-24T>G
|
rs748758067
|
|
NM_000344.4(SMN1):c.835-28T>C
|
rs1554082369
|
|
NM_000344.4(SMN1):c.840C>G (p.Phe280Leu)
|
rs1164325688
|
|
NM_000371.4(TTR):c.302C>T (p.Ala101Val)
|
rs1555631417
|
|
NM_000371.4(TTR):c.418G>T (p.Ala140Ser)
|
rs876658108
|
|
NM_000377.3(WAS):c.1188ACCGCCACC[1] (p.Pro402_Pro404del)
|
rs193922412
|
|
NM_000377.3(WAS):c.1499G>A (p.Trp500Ter)
|
rs1557007727
|
|
NM_000382.3(ALDH3A2):c.153+8C>A
|
rs1410085369
|
|
NM_000384.3(APOB):c.10848del (p.Gly3617fs)
|
rs982371659
|
|
NM_000397.4(CYBB):c.1165G>A (p.Gly389Arg)
|
rs1556471150
|
|
NM_000404.4(GLB1):c.1732A>C (p.Lys578Gln)
|
rs758921331
|
|
NM_000455.5(STK11):c.920+7G>A
|
rs2075607
|
|
NM_000465.3(BARD1):c.158+?_371dup
|
|
|
NM_000465.4(BARD1):c.1289C>T (p.Thr430Ile)
|
rs587780015
|
|
NM_000465.4(BARD1):c.1325C>T (p.Pro442Leu)
|
rs730881417
|
|
NM_000465.4(BARD1):c.1361C>T (p.Pro454Leu)
|
rs772285343
|
|
NM_000465.4(BARD1):c.1754T>C (p.Leu585Pro)
|
rs786201905
|
|
NM_000465.4(BARD1):c.2196C>G (p.Phe732Leu)
|
rs1553612117
|
|
NM_000465.4(BARD1):c.689A>G (p.Asp230Gly)
|
rs751384676
|
|
NM_000465.4(BARD1):c.754C>A (p.Pro252Thr)
|
rs758368819
|
|
NM_000478.6(ALPL):c.499A>G (p.Thr167Ala)
|
rs1553412481
|
|
NM_000492.3(CFTR):c.[1210-16_1210-13dup;1210-6delT]
|
|
|
NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr)
|
rs1396443734
|
|
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)
|
rs4727853
|
|
NM_000492.4(CFTR):c.1430C>T (p.Pro477Leu)
|
rs886044297
|
|
NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser)
|
rs397508219
|
|
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)
|
rs1554384440
|
|
NM_000492.4(CFTR):c.1680-877G>A
|
rs397508261
|
|
NM_000492.4(CFTR):c.2490+19G>C
|
rs368353825
|
|
NM_000492.4(CFTR):c.273+8T>A
|
rs1189108407
|
|
NM_000492.4(CFTR):c.2734T>A (p.Ser912Thr)
|
rs1554390984
|
|
NM_000492.4(CFTR):c.2938A>G (p.Ile980Val)
|
rs1554391473
|
|
NM_000492.4(CFTR):c.2976T>A (p.Phe992Leu)
|
rs758250836
|
|
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg)
|
rs756219310
|
|
NM_000492.4(CFTR):c.3139+39del
|
rs1554392063
|
|
NM_000492.4(CFTR):c.3140-17A>G
|
rs1383455542
|
|
NM_000492.4(CFTR):c.3874-103del
|
rs1282290289
|
|
NM_000492.4(CFTR):c.3908A>C (p.Asn1303Thr)
|
rs397508636
|
|
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn)
|
rs763602969
|
|
NM_000492.4(CFTR):c.4061T>C (p.Met1354Thr)
|
rs755993775
|
|
NM_000492.4(CFTR):c.4136+14G>A
|
rs1389376517
|
|
NM_000492.4(CFTR):c.4242+19A>C
|
rs1554397608
|
|
NM_000492.4(CFTR):c.4273G>A (p.Asp1425Asn)
|
rs867990936
|
|
NM_000492.4(CFTR):c.610G>T (p.Ala204Ser)
|
rs748026786
|
|
NM_000492.4(CFTR):c.744-11T>C
|
rs1554380747
|
|
NM_000492.4(CFTR):c.80G>T (p.Gly27Val)
|
rs397508797
|
|
NM_000492.4(CFTR):c.869+3A>C
|
rs1554380828
|
|
NM_000492.4(CFTR):c.950T>C (p.Val317Ala)
|
rs1204521684
|
|
NM_000518.4(HBB):c.-102G>T
|
rs1554918277
|
|
NM_000518.4(HBB):c.-122T>G
|
rs1272414751
|
|
NM_000518.4(HBB):c.-150T>A
|
rs1448799110
|
|
NM_000518.4(HBB):c.-73C>T
|
rs1554918265
|
|
NM_000518.4(HBB):c.125T>C (p.Phe42Ser)
|
rs33926796
|
|
NM_000518.4(HBB):c.44T>G (p.Leu15Arg)
|
rs33935445
|
|
NM_000518.5(HBB):c.*115A>C
|
rs1554917417
|
|
NM_000518.5(HBB):c.*67G>T
|
rs1554917441
|
|
NM_000518.5(HBB):c.-23A>G
|
rs1010004981
|
|
NM_000518.5(HBB):c.316-109C>T
|
rs1554917650
|
|
NM_000518.5(HBB):c.316-114C>T
|
rs1003790835
|
|
NM_000518.5(HBB):c.316-128G>C
|
rs1291160651
|
|
NM_000518.5(HBB):c.363A>C (p.Lys121Asn)
|
rs34726542
|
|
NM_000518.5(HBB):c.70G>C (p.Val24Leu)
|
rs33929459
|
|
NM_000518.5(HBB):c.93-6C>T
|
rs1554918048
|
|
NM_000527.5(LDLR):c.1187-14C>T
|
rs1284033782
|
|
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val)
|
rs730882100
|
|
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro)
|
rs1555805237
|
|
NM_000527.5(LDLR):c.1561G>A (p.Ala521Thr)
|
rs879254940
|
|
NM_000527.5(LDLR):c.1577C>A (p.Pro526His)
|
rs879254944
|
|
NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878
|
|
NM_000527.5(LDLR):c.1700C>A (p.Thr567Asn)
|
rs1555806098
|
|
NM_000527.5(LDLR):c.2041T>G (p.Cys681Gly)
|
rs879255118
|
|
NM_000527.5(LDLR):c.2048C>T (p.Pro683Leu)
|
rs766765648
|
|
NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala)
|
rs748540948
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
NM_000527.5(LDLR):c.551G>C (p.Cys184Ser)
|
rs121908039
|
|
NM_000527.5(LDLR):c.781T>C (p.Cys261Arg)
|
rs1372739823
|
|
NM_000531.6(OTC):c.608C>T (p.Ser203Phe)
|
rs72558410
|
|
NM_000532.5(PCCB):c.1169C>T (p.Thr390Ile)
|
rs201880353
|
|
NM_000535.6(PMS2):c.2175-?_2445+?del
|
|
|
NM_000535.6(PMS2):c.904-?_988+?dup
|
|
|
NM_000535.7(PMS2):c.1243G>T (p.Val415Leu)
|
rs138387687
|
|
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg)
|
rs146848345
|
|
NM_000535.7(PMS2):c.2092G>A (p.Val698Met)
|
rs751551006
|
|
NM_000535.7(PMS2):c.251-10T>A
|
rs1554304817
|
|
NM_000535.7(PMS2):c.283T>C (p.Phe95Leu)
|
rs1554304717
|
|
NM_000535.7(PMS2):c.406A>T (p.Met136Leu)
|
rs35690297
|
|
NM_000535.7(PMS2):c.683G>T (p.Gly228Val)
|
rs1554302319
|
|
NM_000535.7(PMS2):c.792T>A (p.His264Gln)
|
rs1554301398
|
|
NM_000535.7(PMS2):c.804-10T>G
|
rs267608151
|
|
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu)
|
rs201921616
|
|
NM_000535.7(PMS2):c.865T>C (p.Phe289Leu)
|
rs771787834
|
|
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys)
|
rs587781358
|
|
NM_000540.3(RYR1):c.2331C>G (p.Phe777Leu)
|
rs1210759640
|
|
NM_000543.5(SMPD1):c.107_108insCTGGC (p.Leu37fs)
|
rs1554933813
|
|
NM_000546.6(TP53):c.1136G>T (p.Arg379Leu)
|
rs863224682
|
|
NM_000546.6(TP53):c.27C>G (p.Ser9Arg)
|
rs757282628
|
|
NM_000546.6(TP53):c.865C>G (p.Leu289Val)
|
rs1555525154
|
|
NM_000551.4(VHL):c.188T>C (p.Leu63Pro)
|
rs104893827
|
|
NM_000551.4(VHL):c.227T>G (p.Phe76Cys)
|
rs730882033
|
|
NM_000551.4(VHL):c.341-21_341-19del
|
rs779747717
|
|
NM_000551.4(VHL):c.345C>G (p.His115Gln)
|
rs864622646
|
|
NM_000551.4(VHL):c.382C>T (p.Leu128Phe)
|
rs1553619956
|
|
NM_000551.4(VHL):c.393C>A (p.Asn131Lys)
|
rs1064794272
|
|
NM_000551.4(VHL):c.463+3A>G
|
rs1131690954
|
|
NM_000719.7(CACNA1C):c.14A>G (p.Asn5Ser)
|
rs1555075958
|
|
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro)
|
rs730880056
|
|
NM_001005242.3(PKP2):c.2168-4G>C
|
rs376231586
|
|
NM_001005242.3(PKP2):c.2408T>C (p.Leu803Pro)
|
rs1064794215
|
|
NM_001005242.3(PKP2):c.457G>A (p.Asp153Asn)
|
rs747856983
|
|
NM_001032283.3(TMPO):c.565+2026T>C
|
rs1555203926
|
|
NM_001035.3(RYR2):c.11930A>C (p.Asp3977Ala)
|
rs1553321536
|
|
NM_001035.3(RYR2):c.2401C>T (p.Arg801Cys)
|
rs940667860
|
|
NM_001035.3(RYR2):c.2805G>A (p.Met935Ile)
|
rs727505044
|
|
NM_001035.3(RYR2):c.6027T>G (p.Ile2009Met)
|
rs1553529773
|
|
NM_001048174.2(MUTYH):c.1080_1081delinsAT (p.Leu360_Leu361=)
|
rs1553126326
|
|
NM_001048174.2(MUTYH):c.41A>T (p.Lys14Met)
|
rs1553131499
|
|
NM_001048174.2(MUTYH):c.587C>A (p.Ala196Asp)
|
rs1553128391
|
|
NM_001079802.2(FKTN):c.748T>C (p.Cys250Arg)
|
rs398123558
|
|
NM_001110792.2(MECP2):c.1195delinsAGCCCACCTCCCA (p.Pro399delinsSerProProProThr)
|
rs1557135722
|
|
NM_001110792.2(MECP2):c.271G>T (p.Ala91Ser)
|
rs1557137845
|
|
NM_001110792.2(MECP2):c.752C>A (p.Ala251Asp)
|
rs1557136591
|
|
NM_001110792.2(MECP2):c.959C>G (p.Thr320Ser)
|
rs1557136171
|
|
NM_001114122.3(CHEK1):c.85A>G (p.Arg29Gly)
|
rs1555067411
|
|
NM_001126049.2(KLLN):c.-1046C>T
|
rs1394545143
|
|
NM_001126049.2(KLLN):c.-914_-889del
|
rs786203072
|
|
NM_001126049.2(KLLN):c.-935G>T
|
rs876661006
|
|
NM_001126049.2(KLLN):c.-963G>A
|
rs1554889877
|
|
NM_001126049.2(KLLN):c.-972G>A
|
rs1177963105
|
|
NM_001148.6(ANK2):c.10425A>G (p.Ile3475Met)
|
rs1554572397
|
|
NM_001148.6(ANK2):c.11540T>A (p.Val3847Glu)
|
rs1554590569
|
|
NM_001148.6(ANK2):c.2396C>T (p.Ala799Val)
|
rs776957456
|
|
NM_001148.6(ANK2):c.2900+5G>A
|
rs768275410
|
|
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del)
|
rs774514148
|
|
NM_001164508.2(NEB):c.21313-7T>A
|
rs916066756
|
|
NM_001165963.4(SCN1A):c.2941C>A (p.Leu981Ile)
|
rs1057518112
|
|
NM_001165963.4(SCN1A):c.5117A>C (p.Asn1706Thr)
|
rs1553520340
|
|
NM_001165963.4(SCN1A):c.5407G>A (p.Asp1803Asn)
|
rs1553520143
|
|
NM_001177316.2(SLC34A3):c.-39-94C>T
|
rs1554782458
|
|
NM_001177316.2(SLC34A3):c.-40+71G>A
|
rs1554782358
|
|
NM_001177316.2(SLC34A3):c.1335+257T>G
|
rs1554784918
|
|
NM_001177316.2(SLC34A3):c.560+22T>C
|
rs1554783285
|
|
NM_001177316.2(SLC34A3):c.847-45T>A
|
rs1554783966
|
|
NM_001250.6(CD40):c.498-35TG[4]
|
rs1056841361
|
|
NM_001250.6(CD40):c.498-4A>T
|
rs536354301
|
|
NM_001276345.2(TNNT2):c.638C>A (p.Thr213Asn)
|
rs397516476
|
|
NM_001283009.2(RTEL1):c.2216G>T (p.Gly739Val)
|
rs398123016
|
|
NM_001379610.1(SPINK1):c.195-7A>G
|
rs1554089593
|
|
NM_001943.5(DSG2):c.-11G>A
|
rs727504450
|
|
NM_001943.5(DSG2):c.14C>T (p.Pro5Leu)
|
rs530517936
|
|
NM_002471.4(MYH6):c.4015C>T (p.Arg1339Trp)
|
rs985894009
|
|
NM_002471.4(MYH6):c.5566-9C>T
|
rs758869144
|
|
NM_002485.5(NBN):c.1099A>G (p.Thr367Ala)
|
rs1554560363
|
|
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp)
|
rs786202302
|
|
NM_002485.5(NBN):c.1370A>G (p.Asn457Ser)
|
rs876659312
|
|
NM_002485.5(NBN):c.1930C>A (p.Gln644Lys)
|
rs764050423
|
|
NM_002485.5(NBN):c.37+6G>C
|
rs540868733
|
|
NM_002485.5(NBN):c.832T>G (p.Ser278Ala)
|
rs1225178489
|
|
NM_002485.5(NBN):c.925G>A (p.Glu309Lys)
|
rs587780101
|
|
NM_002734.5(PRKAR1A):c.503-10C>A
|
rs1555813804
|
|
NM_002734.5(PRKAR1A):c.549+6A>T
|
rs780068318
|
|
NM_002734.5(PRKAR1A):c.567A>C (p.Glu189Asp)
|
rs767405408
|
|
NM_002734.5(PRKAR1A):c.647A>G (p.Lys216Arg)
|
rs1555814093
|
|
NM_002755.4(MAP2K1):c.812T>G (p.Leu271Arg)
|
rs1555420658
|
|
NM_002834.5(PTPN11):c.868G>A (p.Val290Ile)
|
rs1555269782
|
|
NM_002878.4(RAD51D):c.28C>T (p.Pro10Ser)
|
rs1555570500
|
|
NM_002878.4(RAD51D):c.345+4C>T
|
rs918947511
|
|
NM_002878.4(RAD51D):c.412A>G (p.Asn138Asp)
|
rs141690729
|
|
NM_002878.4(RAD51D):c.471G>C (p.Glu157Asp)
|
rs55942401
|
|
NM_002880.4(RAF1):c.802A>G (p.Thr268Ala)
|
rs1553613743
|
|
NM_002880.4(RAF1):c.856G>A (p.Glu286Lys)
|
rs147453956
|
|
NM_003098.3(SNTA1):c.*8C>T
|
rs1399933359
|
|
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val)
|
rs863223853
|
|
NM_003280.3(TNNC1):c.155C>G (p.Pro52Arg)
|
rs730881065
|
|
NM_003280.3(TNNC1):c.305G>T (p.Arg102Leu)
|
rs143020831
|
|
NM_004004.6(GJB2):c.-112A>C
|
rs1555342240
|
|
NM_004004.6(GJB2):c.-47C>G
|
rs1555342239
|
|
NM_004004.6(GJB2):c.284T>C (p.Val95Ala)
|
rs1250849257
|
|
NM_004004.6(GJB2):c.302AGA[2] (p.Lys103del)
|
rs1555341934
|
|
NM_004004.6(GJB2):c.532G>T (p.Val178Leu)
|
rs1275901105
|
|
NM_004100.5(EYA4):c.*6T>G
|
rs1554276908
|
|
NM_004329.3(BMPR1A):c.1245A>C (p.Glu415Asp)
|
rs786204235
|
|
NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn)
|
rs369012159
|
|
NM_004329.3(BMPR1A):c.776C>T (p.Ala259Val)
|
rs905457708
|
|
NM_004333.6(BRAF):c.206G>C (p.Gly69Ala)
|
rs1554412417
|
|
NM_004333.6(BRAF):c.523G>T (p.Val175Phe)
|
rs1554404622
|
|
NM_004333.6(BRAF):c.83GCGCCG[1] (p.28GA[1])
|
rs397507458
|
|
NM_004360.5(CDH1):c.1542C>G (p.Asp514Glu)
|
rs1555516187
|
|
NM_004360.5(CDH1):c.1630A>G (p.Thr544Ala)
|
rs786202107
|
|
NM_004360.5(CDH1):c.1634G>A (p.Arg545Gln)
|
rs587780115
|
|
NM_004360.5(CDH1):c.1829A>C (p.Gln610Pro)
|
rs1555516856
|
|
NM_004360.5(CDH1):c.2218C>T (p.Pro740Ser)
|
rs773795943
|
|
NM_004360.5(CDH1):c.377C>G (p.Pro126Arg)
|
rs746703615
|
|
NM_004360.5(CDH1):c.535A>G (p.Lys179Glu)
|
rs1555515244
|
|
NM_004360.5(CDH1):c.616A>G (p.Ile206Val)
|
rs1004655282
|
|
NM_004360.5(CDH1):c.818A>T (p.Glu273Val)
|
rs1555515467
|
|
NM_004387.4(NKX2-5):c.662C>T (p.Pro221Leu)
|
rs1554093444
|
|
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)
|
rs780626687
|
|
NM_004415.4(DSP):c.1997C>T (p.Thr666Ile)
|
rs200053977
|
|
NM_004415.4(DSP):c.8493_8516del (p.2827_2830SGSR[3])
|
rs1554109280
|
|
NM_004612.4(TGFBR1):c.1117G>A (p.Val373Met)
|
rs1554701926
|
|
NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[4] (p.Ala22_Ala26del)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys)
|
rs1057524497
|
|
NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala)
|
rs537783084
|
|
NM_005343.4(HRAS):c.10T>C (p.Tyr4His)
|
rs1554885164
|
|
NM_005343.4(HRAS):c.27_29dup (p.Gly10dup)
|
rs1554885154
|
|
NM_005359.6(SMAD4):c.829A>G (p.Thr277Ala)
|
rs1555685960
|
|
NM_005502.4(ABCA1):c.934C>T (p.Pro312Ser)
|
rs1183201615
|
|
NM_005633.4(SOS1):c.1352C>G (p.Thr451Arg)
|
rs730880218
|
|
NM_005633.4(SOS1):c.3322G>C (p.Asp1108His)
|
rs199856844
|
|
NM_005633.4(SOS1):c.3658G>T (p.Val1220Leu)
|
rs776814547
|
|
NM_005633.4(SOS1):c.3724A>G (p.Ser1242Gly)
|
rs1293079271
|
|
NM_005633.4(SOS1):c.3857C>G (p.Ser1286Cys)
|
rs374341202
|
|
NM_005633.4(SOS1):c.510+10T>A
|
rs1553362584
|
|
NM_005633.4(SOS1):c.720T>C (p.Asn240=)
|
rs779699814
|
|
NM_007194.3(CHEK2):c.1462-?_1542+?del
|
|
|
NM_007194.4(CHEK2):c.1342A>G (p.Ile448Val)
|
rs750012749
|
|
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del)
|
rs876659422
|
|
NM_007194.4(CHEK2):c.1430C>T (p.Thr477Ile)
|
rs762488591
|
|
NM_007194.4(CHEK2):c.1542+3A>G
|
rs1060502722
|
|
NM_007194.4(CHEK2):c.1582G>T (p.Glu528Ter)
|
rs138040612
|
|
NM_007194.4(CHEK2):c.353A>G (p.Asp118Gly)
|
rs1555927328
|
|
NM_007194.4(CHEK2):c.462C>G (p.Asn154Lys)
|
rs564924749
|
|
NM_007194.4(CHEK2):c.514A>G (p.Thr172Ala)
|
rs786203836
|
|
NM_007294.4(BRCA1):c.1012A>G (p.Lys338Glu)
|
rs397508826
|
|
NM_007294.4(BRCA1):c.114G>T (p.Lys38Asn)
|
rs1800062
|
|
NM_007294.4(BRCA1):c.1222A>G (p.Lys408Glu)
|
rs80357253
|
|
NM_007294.4(BRCA1):c.1255G>C (p.Val419Leu)
|
rs876658873
|
|
NM_007294.4(BRCA1):c.135-20T>G
|
rs80358025
|
|
NM_007294.4(BRCA1):c.135A>T (p.Lys45Asn)
|
rs80356883
|
|
NM_007294.4(BRCA1):c.1396C>G (p.Arg466Gly)
|
rs80356964
|
|
NM_007294.4(BRCA1):c.1498A>G (p.Asn500Asp)
|
rs1555591681
|
|
NM_007294.4(BRCA1):c.1571C>T (p.Ala524Val)
|
rs80357333
|
|
NM_007294.4(BRCA1):c.1589A>G (p.Glu530Gly)
|
rs1555591512
|
|
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu)
|
rs80356910
|
|
NM_007294.4(BRCA1):c.1717T>C (p.Ser573Pro)
|
rs876660448
|
|
NM_007294.4(BRCA1):c.1824_1826del (p.Lys608del)
|
rs587781614
|
|
NM_007294.4(BRCA1):c.201T>G (p.Asp67Glu)
|
rs80357033
|
|
NM_007294.4(BRCA1):c.2068_2082del (p.Lys690_Ser694del)
|
rs1555590514
|
|
NM_007294.4(BRCA1):c.212+4T>A
|
rs398122652
|
|
NM_007294.4(BRCA1):c.2147G>C (p.Ser716Thr)
|
rs1555590369
|
|
NM_007294.4(BRCA1):c.2155_2163del (p.Lys719_Phe721del)
|
rs863224841
|
|
NM_007294.4(BRCA1):c.2182A>G (p.Arg728Gly)
|
rs1555590265
|
|
NM_007294.4(BRCA1):c.2249T>C (p.Leu750Pro)
|
rs1555590048
|
|
NM_007294.4(BRCA1):c.2296A>G (p.Ser766Gly)
|
rs398122655
|
|
NM_007294.4(BRCA1):c.2387C>G (p.Thr796Arg)
|
rs80357364
|
|
NM_007294.4(BRCA1):c.2396A>G (p.Asn799Ser)
|
rs587782027
|
|
NM_007294.4(BRCA1):c.2397T>A (p.Asn799Lys)
|
rs80357203
|
|
NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly)
|
rs397507201
|
|
NM_007294.4(BRCA1):c.2447A>T (p.His816Leu)
|
rs80357108
|
|
NM_007294.4(BRCA1):c.2481A>C (p.Glu827Asp)
|
rs397508970
|
|
NM_007294.4(BRCA1):c.2483G>T (p.Gly828Val)
|
rs1555589578
|
|
NM_007294.4(BRCA1):c.2541G>A (p.Met847Ile)
|
rs80357195
|
|
NM_007294.4(BRCA1):c.269T>C (p.Ile90Thr)
|
rs80357174
|
|
NM_007294.4(BRCA1):c.286G>A (p.Asp96Asn)
|
rs80357110
|
|
NM_007294.4(BRCA1):c.290C>T (p.Thr97Ile)
|
rs431825393
|
|
NM_007294.4(BRCA1):c.2953C>T (p.Pro985Ser)
|
rs1555588649
|
|
NM_007294.4(BRCA1):c.301+11A>C
|
rs1555596621
|
|
NM_007294.4(BRCA1):c.3042G>A (p.Met1014Ile)
|
rs1555588493
|
|
NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val)
|
rs80356899
|
|
NM_007294.4(BRCA1):c.332A>T (p.Glu111Val)
|
rs80357312
|
|
NM_007294.4(BRCA1):c.3341AAG[1] (p.Glu1115del)
|
rs80358336
|
|
NM_007294.4(BRCA1):c.3354G>T (p.Gln1118His)
|
rs80357334
|
|
NM_007294.4(BRCA1):c.3400G>A (p.Glu1134Lys)
|
rs80357018
|
|
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro)
|
rs80357101
|
|
NM_007294.4(BRCA1):c.3616G>T (p.Ala1206Ser)
|
rs1555587407
|
|
NM_007294.4(BRCA1):c.3642G>C (p.Glu1214Asp)
|
rs398122675
|
|
NM_007294.4(BRCA1):c.364G>C (p.Val122Leu)
|
rs1555596409
|
|
NM_007294.4(BRCA1):c.3737C>A (p.Thr1246Asn)
|
rs878854949
|
|
NM_007294.4(BRCA1):c.3877_3879del (p.Ala1293del)
|
rs1555586867
|
|
NM_007294.4(BRCA1):c.389A>G (p.Tyr130Cys)
|
rs56055578
|
|
NM_007294.4(BRCA1):c.3995G>T (p.Gly1332Val)
|
rs730881490
|
|
NM_007294.4(BRCA1):c.4013A>G (p.Lys1338Arg)
|
rs1555586661
|
|
NM_007294.4(BRCA1):c.4061A>G (p.Asn1354Ser)
|
rs767246037
|
|
NM_007294.4(BRCA1):c.4096+17T>C
|
rs1555586455
|
|
NM_007294.4(BRCA1):c.441+18_441+21delinsT
|
rs1555596265
|
|
NM_007294.4(BRCA1):c.441+9A>G
|
rs1555596273
|
|
NM_007294.4(BRCA1):c.442-17T>C
|
rs1555595010
|
|
NM_007294.4(BRCA1):c.44T>C (p.Ile15Thr)
|
rs80357316
|
|
NM_007294.4(BRCA1):c.4568C>T (p.Pro1523Leu)
|
rs1555581955
|
|
NM_007294.4(BRCA1):c.4639T>G (p.Leu1547Val)
|
rs730881492
|
|
NM_007294.4(BRCA1):c.4765C>G (p.Arg1589Gly)
|
rs80357002
|
|
NM_007294.4(BRCA1):c.4951T>C (p.Ser1651Pro)
|
rs879254042
|
|
NM_007294.4(BRCA1):c.4981G>A (p.Glu1661Lys)
|
rs80357401
|
|
NM_007294.4(BRCA1):c.4987-10T>G
|
rs1555579828
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
NM_007294.4(BRCA1):c.5041A>C (p.Thr1681Pro)
|
rs876659314
|
|
NM_007294.4(BRCA1):c.5065A>C (p.Met1689Leu)
|
rs1555579619
|
|
NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala)
|
rs397509219
|
|
NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del)
|
rs80358347
|
|
NM_007294.4(BRCA1):c.5228G>C (p.Gly1743Ala)
|
rs1346819781
|
|
NM_007294.4(BRCA1):c.5243G>T (p.Gly1748Val)
|
rs397509243
|
|
NM_007294.4(BRCA1):c.5333-18T>G
|
rs1555575227
|
|
NM_007294.4(BRCA1):c.5387C>T (p.Ser1796Leu)
|
rs80357055
|
|
NM_007294.4(BRCA1):c.547+14G>A
|
rs932782447
|
|
NM_007294.4(BRCA1):c.5564del (p.Ile1855fs)
|
rs1555574355
|
|
NM_007294.4(BRCA1):c.67_75del (p.Glu23_Pro25del)
|
rs1555600865
|
|
NM_007294.4(BRCA1):c.71G>A (p.Cys24Tyr)
|
rs80357198
|
|
NM_007294.4(BRCA1):c.745A>T (p.Thr249Ser)
|
rs397507256
|
|
NM_007294.4(BRCA1):c.81-15C>A
|
rs1555599314
|
|
NM_007294.4(BRCA1):c.81-20C>T
|
rs80358039
|
|
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu)
|
rs80357244
|
|
NM_007373.4(SHOC2):c.32C>A (p.Ser11Tyr)
|
rs1381863749
|
|
NM_013975.4(LIG3):c.1690A>C (p.Ile564Leu)
|
rs1555556264
|
|
NM_013975.4(LIG3):c.3023C>T (p.Pro1008Leu)
|
rs1319167353
|
|
NM_014697.3(NOS1AP):c.40C>A (p.His14Asn)
|
rs1553253970
|
|
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr)
|
rs1553163019
|
|
NM_016203.4(PRKAG2):c.819C>G (p.Ile273Met)
|
rs764244463
|
|
NM_024334.3(TMEM43):c.1001-3C>T
|
rs1553603640
|
|
NM_024675.4(PALB2):c.-1G>T
|
rs1341292125
|
|
NM_024675.4(PALB2):c.108+4A>G
|
rs1555462100
|
|
NM_024675.4(PALB2):c.1238C>G (p.Thr413Arg)
|
rs876660213
|
|
NM_024675.4(PALB2):c.1347A>G (p.Lys449=)
|
rs587780205
|
|
NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala)
|
rs1060502741
|
|
NM_024675.4(PALB2):c.1939C>T (p.His647Tyr)
|
rs1555460583
|
|
NM_024675.4(PALB2):c.212-10del
|
rs766487430
|
|
NM_024675.4(PALB2):c.2642G>A (p.Gly881Asp)
|
rs772499138
|
|
NM_024675.4(PALB2):c.2732C>T (p.Thr911Ile)
|
rs180177123
|
|
NM_024675.4(PALB2):c.2996+5G>T
|
rs879254193
|
|
NM_024675.4(PALB2):c.3226C>T (p.His1076Tyr)
|
rs1555458224
|
|
NM_024675.4(PALB2):c.3290C>G (p.Pro1097Arg)
|
rs587781308
|
|
NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr)
|
rs876658196
|
|
NM_024675.4(PALB2):c.397A>G (p.Ser133Gly)
|
rs730881881
|
|
NM_024675.4(PALB2):c.413A>C (p.Glu138Ala)
|
rs1322095182
|
|
NM_024675.4(PALB2):c.557A>T (p.Asn186Ile)
|
rs587782164
|
|
NM_024675.4(PALB2):c.740C>G (p.Thr247Arg)
|
rs587782658
|
|
NM_030662.4(MAP2K2):c.170T>A (p.Phe57Tyr)
|
rs121434497
|
|
NM_030662.4(MAP2K2):c.627G>C (p.Lys209Asn)
|
rs1555696933
|
|
NM_030662.4(MAP2K2):c.806C>T (p.Pro269Leu)
|
rs368064728
|
|
NM_032043.3(BRIP1):c.1507A>G (p.Lys503Glu)
|
rs1555603594
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
NM_032043.3(BRIP1):c.1679A>T (p.Asn560Ile)
|
rs1555602592
|
|
NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala)
|
rs189758577
|
|
NM_032043.3(BRIP1):c.2435C>T (p.Pro812Leu)
|
rs876659410
|
|
NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del)
|
rs587781388
|
|
NM_032043.3(BRIP1):c.3215C>A (p.Thr1072Asn)
|
rs786204068
|
|
NM_032043.3(BRIP1):c.3242C>T (p.Ala1081Val)
|
rs1555572749
|
|
NM_032043.3(BRIP1):c.3411_3412inv (p.Asp1138Asn)
|
|
|
NM_032043.3(BRIP1):c.3412G>A (p.Asp1138Asn)
|
rs587780249
|
|
NM_058216.3(RAD51C):c.24T>A (p.Phe8Leu)
|
rs587782698
|
|
NM_058216.3(RAD51C):c.32A>G (p.Gln11Arg)
|
rs730881937
|
|
NM_058216.3(RAD51C):c.3G>T (p.Met1Ile)
|
rs769053886
|
|
NM_058216.3(RAD51C):c.482A>T (p.Glu161Val)
|
rs1555594725
|
|
NM_058216.3(RAD51C):c.487A>T (p.Ser163Cys)
|
rs776904180
|
|
NM_058216.3(RAD51C):c.71G>A (p.Arg24Gln)
|
rs777554369
|
|
NM_058216.3(RAD51C):c.86C>T (p.Ser29Phe)
|
rs876659683
|
|
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp)
|
rs1554214097
|
|
NM_138694.4(PKHD1):c.778G>A (p.Glu260Lys)
|
rs1554222386
|
|
NM_139076.3(ABRAXAS1):c.1155G>C (p.Met385Ile)
|
rs1553936012
|
|
NM_139076.3(ABRAXAS1):c.1214G>A (p.Arg405Gln)
|
rs200281698
|
|
NM_139076.3(ABRAXAS1):c.332C>T (p.Thr111Met)
|
rs1553936765
|
|
NM_139076.3(ABRAXAS1):c.345G>C (p.Arg115Ser)
|
rs762389463
|
|
NM_139076.3(ABRAXAS1):c.359A>T (p.Asn120Ile)
|
rs1553936762
|
|
NM_139276.3(STAT3):c.1863C>G (p.Phe621Leu)
|
rs1555563854
|
|
NM_174934.4(SCN4B):c.589A>G (p.Lys197Glu)
|
rs1230446349
|
|
NM_174936.4(PCSK9):c.1133_1134delinsAA (p.Cys378Ter)
|
rs1553137557
|
|
NM_174936.4(PCSK9):c.399+10C>T
|
rs112710386
|
|
NM_174936.4(PCSK9):c.657G>A (p.Gln219=)
|
rs1431852989
|
|
NM_174936.4(PCSK9):c.800-17G>T
|
rs200551844
|
|