ClinVar Miner

List of variants reported as uncertain significance for not provided by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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ClinVar version:
Total variants: 1243
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HGVS dbSNP gnomAD frequency
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

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