ClinVar Miner

List of variants reported as likely pathogenic for Hereditary cancer-predisposing syndrome by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3052
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_002528.7(NTHL1):c.526-1G>A rs779757251 0.00008
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442 0.00007
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000136.3(FANCC):c.843+5G>A rs369082921 0.00006
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs) rs730881645 0.00006
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00006
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys) rs145029382 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_001048174.2(MUTYH):c.421-2A>C rs786203161 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_002439.5(MSH3):c.1341-1G>T rs61754780 0.00004
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter) rs753029097 0.00004
NM_004168.4(SDHA):c.1663+3G>C rs751904543 0.00004
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) rs139881415 0.00004
NM_005732.4(RAD50):c.3G>A (p.Met1Ile) rs377260382 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066 0.00003
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly) rs372670098 0.00003
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter) rs879253880 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_001048174.2(MUTYH):c.638G>A (p.Arg213Gln) rs1060501346 0.00003
NM_002439.5(MSH3):c.1764-1G>A rs367544716 0.00003
NM_002439.5(MSH3):c.2436-1G>A rs200639359 0.00003
NM_002485.5(NBN):c.897-2A>T rs864622090 0.00003
NM_003000.3(SDHB):c.650G>A (p.Arg217His) rs747518441 0.00003
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) rs898854295 0.00003
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg) rs771111180 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter) rs886039439 0.00003
NM_032043.3(BRIP1):c.2492+2dup rs587780240 0.00003
NM_000051.4(ATM):c.2466+1552G>C rs963653732 0.00002
NM_000051.4(ATM):c.3994-2A>G rs587782276 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_002878.4(RAD51D):c.576+1G>A rs781161543 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) rs750621215 0.00002
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601 0.00002
NM_005591.4(MRE11):c.1867+2T>C rs745677716 0.00002
NM_005591.4(MRE11):c.402+1G>A rs929767929 0.00002
NM_005591.4(MRE11):c.545-1G>A rs1451215042 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_000038.6(APC):c.3083G>T (p.Ser1028Ile) rs1114167617 0.00001
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter) rs587779813 0.00001
NM_000051.4(ATM):c.1695A>G (p.Glu565=) rs780932013 0.00001
NM_000051.4(ATM):c.186-1G>A rs1259911051 0.00001
NM_000051.4(ATM):c.2376+3A>T rs758083563 0.00001
NM_000051.4(ATM):c.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr) rs876660628 0.00001
NM_000051.4(ATM):c.3078-17A>G rs2081636353 0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.3994-159A>G rs864622543 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.5005+1G>T rs1057517427 0.00001
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro) rs747800057 0.00001
NM_000051.4(ATM):c.5763-1056G>A rs1325461375 0.00001
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val) rs730881394 0.00001
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415 0.00001
NM_000051.4(ATM):c.6095+1G>A rs587781584 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6573-2A>G rs751168951 0.00001
NM_000051.4(ATM):c.6807G>A (p.Gln2269=) rs587780638 0.00001
NM_000051.4(ATM):c.72+1G>A rs786204088 0.00001
NM_000051.4(ATM):c.7307+3_7307+4insGTTC rs587782288 0.00001
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu) rs1324075885 0.00001
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg) rs587782692 0.00001
NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro) rs769142993 0.00001
NM_000051.4(ATM):c.7914G>T (p.Trp2638Cys) rs758843096 0.00001
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn) rs730881384 0.00001
NM_000051.4(ATM):c.8010G>A (p.Lys2670=) rs1013244700 0.00001
NM_000051.4(ATM):c.8045C>G (p.Thr2682Ser) rs1175177178 0.00001
NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg) rs876659735 0.00001
NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu) rs938431501 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324 0.00001
NM_000057.4(BLM):c.2075-1G>A rs1231598990 0.00001
NM_000057.4(BLM):c.2824-2A>T rs745538883 0.00001
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) rs746218707 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter) rs876661261 0.00001
NM_000059.4(BRCA2):c.7961T>C (p.Leu2654Pro) rs80359023 0.00001
NM_000059.4(BRCA2):c.7970A>C (p.Lys2657Thr) rs1555286874 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.9648+1G>C rs730881573 0.00001
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp) rs749714198 0.00001
NM_000136.3(FANCC):c.166-2A>G rs587777945 0.00001
NM_000136.3(FANCC):c.166-4_166-1dup rs746016938 0.00001
NM_000136.3(FANCC):c.522-1G>C rs1014112491 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000143.4(FH):c.1204C>T (p.His402Tyr) rs760360724 0.00001
NM_000143.4(FH):c.151C>T (p.Arg51Trp) rs778678782 0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly) rs145116688 0.00001
NM_000143.4(FH):c.222A>T (p.Arg74Ser) rs146739519 0.00001
NM_000143.4(FH):c.431G>A (p.Gly144Glu) rs1057521425 0.00001
NM_000143.4(FH):c.583A>G (p.Met195Val) rs1553341364 0.00001
NM_000143.4(FH):c.908T>C (p.Leu303Ser) rs201502246 0.00001
NM_000143.4(FH):c.914T>C (p.Phe305Ser) rs1439046582 0.00001
NM_000143.4(FH):c.923C>G (p.Ala308Gly) rs1057524385 0.00001
NM_000179.3(MSH6):c.261-1G>C rs863225402 0.00001
NM_000179.3(MSH6):c.2926C>T (p.Arg976Cys) rs587782386 0.00001
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His) rs779617676 0.00001
NM_000179.3(MSH6):c.3447A>C (p.Leu1149Phe) rs876660151 0.00001
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val) rs182024561 0.00001
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285 0.00001
NM_000179.3(MSH6):c.3801+1G>T rs876660943 0.00001
NM_000179.3(MSH6):c.4053_4081dup (p.*1361Leuext*3) rs2104583584 0.00001
NM_000179.3(MSH6):c.628-2A>G rs1114167725 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000251.3(MSH2):c.2458+2T>C rs1278858560 0.00001
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp) rs587779162 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000314.8(PTEN):c.77C>T (p.Thr26Ile) rs786204853 0.00001
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000535.7(PMS2):c.164-1G>A rs763308607 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.23+1G>T rs587782074 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000535.7(PMS2):c.706-2A>G rs745487791 0.00001
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) rs587782596 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) rs193922608 0.00001
NM_000551.4(VHL):c.492G>C (p.Gln164His) rs1352275281 0.00001
NM_000791.4(DHFR):c.-476C>G rs1196929384 0.00001
NM_001048174.2(MUTYH):c.-6-2A>G rs1383826978 0.00001
NM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter) rs863224502 0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) rs587780086 0.00001
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg) rs558707786 0.00001
NM_001048174.2(MUTYH):c.242G>C (p.Arg81Pro) rs761763725 0.00001
NM_001048174.2(MUTYH):c.264+10C>T rs369242529 0.00001
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu) rs777184451 0.00001
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met) rs776487884 0.00001
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu) rs768553551 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001048174.2(MUTYH):c.992C>T (p.Pro331Leu) rs1060501323 0.00001
NM_001127511.3(APC):c.-192A>G rs879253784 0.00001
NM_001128425.2(MUTYH):c.36+1G>A rs1553136984 0.00001
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_002439.5(MSH3):c.1341-2A>G rs750876165 0.00001
NM_002439.5(MSH3):c.136C>T (p.Gln46Ter) rs779180469 0.00001
NM_002439.5(MSH3):c.238-2A>G rs1749285874 0.00001
NM_002439.5(MSH3):c.358+2T>G rs1450314617 0.00001
NM_002439.5(MSH3):c.76C>T (p.Arg26Ter) rs770190473 0.00001
NM_002439.5(MSH3):c.909G>C (p.Lys303Asn) rs757164724 0.00001
NM_002485.5(NBN):c.2070+2del rs1057517075 0.00001
NM_002485.5(NBN):c.2184+1G>T rs756363734 0.00001
NM_002485.5(NBN):c.2234+2T>G rs142301194 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002485.5(NBN):c.7A>T (p.Lys3Ter) rs779098734 0.00001
NM_002528.7(NTHL1):c.795del (p.Glu265fs) rs1173366565 0.00001
NM_002878.4(RAD51D):c.739-1G>A rs1555567202 0.00001
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp) rs778952116 0.00001
NM_003000.3(SDHB):c.540G>A (p.Leu180=) rs528442805 0.00001
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys) rs1131691058 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_003001.5(SDHC):c.78-1G>A rs786202200 0.00001
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys) rs202198133 0.00001
NM_004168.4(SDHA):c.1220A>G (p.His407Arg) rs374087393 0.00001
NM_004168.4(SDHA):c.150+1G>A rs1057523165 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln) rs752360961 0.00001
NM_004168.4(SDHA):c.1795-3C>G rs544544409 0.00001
NM_004168.4(SDHA):c.1909-2A>G rs747939816 0.00001
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp) rs553257776 0.00001
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) rs587781720 0.00001
NM_004168.4(SDHA):c.923C>T (p.Thr308Met) rs1457666982 0.00001
NM_004360.5(CDH1):c.1566-1G>C rs113583899 0.00001
NM_004655.4(AXIN2):c.1201-2A>G rs775783026 0.00001
NM_005431.2(XRCC2):c.39+1G>A rs560785131 0.00001
NM_005431.2(XRCC2):c.39+2T>A rs758499439 0.00001
NM_005431.2(XRCC2):c.49C>T (p.Arg17Ter) rs750903875 0.00001
NM_005591.4(MRE11):c.1225+2T>C rs145058858 0.00001
NM_005591.4(MRE11):c.1326+2T>G rs1475506136 0.00001
NM_005591.4(MRE11):c.2070+2T>A rs786202801 0.00001
NM_005591.4(MRE11):c.315-2A>G rs876659145 0.00001
NM_005732.4(RAD50):c.1052-2A>C rs876660957 0.00001
NM_005732.4(RAD50):c.129+2T>A rs748086984 0.00001
NM_005732.4(RAD50):c.130-1G>T rs876658784 0.00001
NM_005732.4(RAD50):c.1794-1G>A rs587781742 0.00001
NM_005732.4(RAD50):c.213+1G>T rs765484171 0.00001
NM_005732.4(RAD50):c.3164+1G>T rs786203805 0.00001
NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr) rs121912629 0.00001
NM_005732.4(RAD50):c.552-1G>A rs1236278956 0.00001
NM_005732.4(RAD50):c.756+2T>C rs764122619 0.00001
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980 0.00001
NM_007194.4(CHEK2):c.1462-1G>A rs1060502698 0.00001
NM_007194.4(CHEK2):c.319+1G>A rs765080766 0.00001
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr) rs1060502688 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.792+2T>C rs545982789 0.00001
NM_007194.4(CHEK2):c.846+1G>C rs864622149 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4097-2A>G rs80358019 0.00001
NM_007294.4(BRCA1):c.4185+4105C>T rs1597853155 0.00001
NM_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NM_015450.3(POT1):c.1506-1G>A rs1418539002 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
NM_017841.4(SDHAF2):c.347G>A (p.Trp116Ter) rs876658350 0.00001
NM_017841.4(SDHAF2):c.37-1G>C rs761956866 0.00001
NM_017841.4(SDHAF2):c.37-2A>G rs1344681005 0.00001
NM_017841.4(SDHAF2):c.371-2A>G rs375280597 0.00001
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_024675.4(PALB2):c.2748+2dup rs1370694908 0.00001
NM_024675.4(PALB2):c.3113+5G>C rs876659463 0.00001
NM_024675.4(PALB2):c.3201+1G>T rs587776423 0.00001
NM_024675.4(PALB2):c.3350+4A>C rs180177136 0.00001
NM_024675.4(PALB2):c.3350+5G>A rs587782566 0.00001
NM_032043.3(BRIP1):c.1794+1G>A rs766516963 0.00001
NM_032043.3(BRIP1):c.1794+1G>C rs766516963 0.00001
NM_032043.3(BRIP1):c.2379+1G>A rs1555590286 0.00001
NM_032043.3(BRIP1):c.2905+3A>G rs1555573247 0.00001
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter) rs1420431000 0.00001
NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs) rs777367075 0.00001
NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter) rs759292615 0.00001
NM_058216.3(RAD51C):c.404+2T>C rs730881931 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_058216.3(RAD51C):c.572-2A>G rs145310733 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_058216.3(RAD51C):c.905-2A>C rs779582317 0.00001
NM_058216.3(RAD51C):c.905-2del rs876658652 0.00001
NM_144997.7(FLCN):c.1433-2A>G rs398124528 0.00001
NC_000009.12:g.95482199_95482204del
NM_000038.6(APC):c.1312+1G>T rs863225310
NM_000038.6(APC):c.135+1G>C
NM_000038.6(APC):c.135+1G>T rs750508765
NM_000038.6(APC):c.136-1G>A rs1554069481
NM_000038.6(APC):c.1409-3T>G rs1554081629
NM_000038.6(APC):c.1549-8A>G
NM_000038.6(APC):c.1626+2T>G rs876658858
NM_000038.6(APC):c.1627-3C>A
NM_000038.6(APC):c.1743+1G>T rs761458613
NM_000038.6(APC):c.1743+2T>A
NM_000038.6(APC):c.1743+2T>C
NM_000038.6(APC):c.1743G>C (p.Lys581Asn) rs1114167592
NM_000038.6(APC):c.1743G>T (p.Lys581Asn)
NM_000038.6(APC):c.1902T>G (p.Ser634Arg) rs876659460
NM_000038.6(APC):c.1959-2A>C
NM_000038.6(APC):c.1959-2A>G rs876658214
NM_000038.6(APC):c.1987C>T (p.Gln663Ter) rs730881240
NM_000038.6(APC):c.220+3A>G rs1554069573
NM_000038.6(APC):c.221-1G>A rs863225327
NM_000038.6(APC):c.2877_2898del (p.Asn961fs)
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.6(APC):c.3077A>G (p.Asn1026Ser) rs1114167603
NM_000038.6(APC):c.3443_3444del (p.Tyr1147_Ser1148insTer) rs1765424969
NM_000038.6(APC):c.3472A>T (p.Arg1158Ter) rs587779790
NM_000038.6(APC):c.386A>T (p.Glu129Val) rs759662717
NM_000038.6(APC):c.4139C>T (p.Thr1380Ile) rs876660713
NM_000038.6(APC):c.422+2T>C rs879254169
NM_000038.6(APC):c.423-3958C>T
NM_000038.6(APC):c.423-3_423-2del rs863225354
NM_000038.6(APC):c.423-8A>G rs2149614206
NM_000038.6(APC):c.4373_4380del (p.Pro1458fs)
NM_000038.6(APC):c.4732T>C (p.Cys1578Arg) rs138367627
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.4735A>T (p.Ile1579Phe) rs587781935
NM_000038.6(APC):c.4778dup (p.Pro1594fs)
NM_000038.6(APC):c.5155G>T (p.Glu1719Ter)
NM_000038.6(APC):c.531+3A>C rs1114167550
NM_000038.6(APC):c.531+5G>A rs587779798
NM_000038.6(APC):c.532-934A>T
NM_000038.6(APC):c.6102del (p.Glu2035fs) rs2149957064
NM_000038.6(APC):c.6281del (p.Pro2094fs) rs876660816
NM_000038.6(APC):c.645+2T>G rs786202351
NM_000038.6(APC):c.6567del (p.Gly2190fs)
NM_000038.6(APC):c.6760A>T (p.Lys2254Ter) rs2149972499
NM_000038.6(APC):c.6919dup (p.Ser2307fs)
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter) rs79630786
NM_000038.6(APC):c.7570A>T (p.Lys2524Ter)
NM_000038.6(APC):c.7612A>T (p.Arg2538Ter)
NM_000038.6(APC):c.7664C>A (p.Ser2555Ter)
NM_000038.6(APC):c.7692dup (p.Arg2565fs) rs1554088600
NM_000038.6(APC):c.7803_7807del (p.Ser2601fs) rs1580686729
NM_000038.6(APC):c.7928dup (p.Ile2644fs)
NM_000038.6(APC):c.7935T>A (p.Tyr2645Ter)
NM_000038.6(APC):c.7964_7965del (p.Glu2655fs) rs2149997043
NM_000038.6(APC):c.8099_8102del (p.Asn2700fs) rs1580690024
NM_000038.6(APC):c.8310_8311del (p.His2770fs) rs1561622234
NM_000038.6(APC):c.8332dup (p.Ala2778fs)
NM_000038.6(APC):c.835-17A>G rs1580511131
NM_000038.6(APC):c.835-8A>G rs1064793022
NM_000038.6(APC):c.8425dup (p.Val2809fs) rs1580693467
NM_000038.6(APC):c.8430dup (p.Asn2811Ter)
NM_000038.6(APC):c.8435del (p.Asn2812fs) rs1766745307
NM_000038.6(APC):c.8446C>T (p.Arg2816Ter)
NM_000038.6(APC):c.933+2T>G rs1057517559
NM_000038.6(APC):c.933G>A (p.Lys311=)
NM_000038.6(APC):c.933G>C (p.Lys311Asn) rs1762431806
NM_000051.3:c.2839-3insALU
NM_000051.3:c.3167_3168insALU
NM_000051.3:c.435_436insALU
NM_000051.3:c.4479_4480insL1
NM_000051.3:c.5770_5771insALU
NM_000051.3:c.5889_5890insALU
NM_000051.3:c.7374_7375insAlu
NM_000051.4(ATM):c.1065+1G>C rs201089102
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1066-1G>A rs876660038
NM_000051.4(ATM):c.1066-2A>T rs1555069514
NM_000051.4(ATM):c.1066-3_1072del rs1591517089
NM_000051.4(ATM):c.1236-1G>C rs1408719214
NM_000051.4(ATM):c.1236-2del rs1565381646
NM_000051.4(ATM):c.1514T>C (p.Phe505Ser) rs1555071109
NM_000051.4(ATM):c.1547T>C (p.Leu516Ser) rs786202195
NM_000051.4(ATM):c.1607+1del
NM_000051.4(ATM):c.1608-1G>A rs1565385010
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser) rs786203230
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr) rs876660661
NM_000051.4(ATM):c.1783_1802+91del rs1555072063
NM_000051.4(ATM):c.1803-1G>A
NM_000051.4(ATM):c.1803-2A>G rs1057517358
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.4(ATM):c.1847_1849del (p.Thr616del)
NM_000051.4(ATM):c.185+1G>A rs112805604
NM_000051.4(ATM):c.185+1del rs2078826294
NM_000051.4(ATM):c.186-1G>T
NM_000051.4(ATM):c.186-1del
NM_000051.4(ATM):c.1899-1G>T rs1555073065
NM_000051.4(ATM):c.1899-20A>C
NM_000051.4(ATM):c.2124+1G>A rs1555073553
NM_000051.4(ATM):c.2124+1G>T rs1555073553
NM_000051.4(ATM):c.2125-2A>G
NM_000051.4(ATM):c.2125-910T>G
NM_000051.4(ATM):c.2149C>A (p.Arg717=) rs147515380
NM_000051.4(ATM):c.2250+2T>C rs1555075037
NM_000051.4(ATM):c.2251-1G>A rs876659710
NM_000051.4(ATM):c.2251-1G>C rs876659710
NM_000051.4(ATM):c.2251-2A>C
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2376+1G>C rs730881347
NM_000051.4(ATM):c.2376+2dup
NM_000051.4(ATM):c.2376G>A (p.Lys792=) rs754267376
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg) rs864622412
NM_000051.4(ATM):c.2466+1G>A rs914092098
NM_000051.4(ATM):c.2466+5G>A rs1064795969
NM_000051.4(ATM):c.2466+5G>C rs1064795969
NM_000051.4(ATM):c.2467-2A>T rs1555082050
NM_000051.4(ATM):c.2638+1G>T rs2135509713
NM_000051.4(ATM):c.2638+1del rs1131691153
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2639-7_2639-2del
NM_000051.4(ATM):c.2838+1G>T rs1555083469
NM_000051.4(ATM):c.2839-2A>G rs1060501703
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.4(ATM):c.2922-1G>T rs1555084931
NM_000051.4(ATM):c.2929T>C (p.Cys977Arg) rs2135551484
NM_000051.4(ATM):c.3065T>G (p.Ile1022Ser) rs1591604769
NM_000051.4(ATM):c.3077+1G>A rs192810283
NM_000051.4(ATM):c.3077+1G>T rs192810283
NM_000051.4(ATM):c.3078-2A>G
NM_000051.4(ATM):c.3078-5T>C rs1565427457
NM_000051.4(ATM):c.3092A>T (p.Glu1031Val) rs758708495
NM_000051.4(ATM):c.3093G>T (p.Glu1031Asp)
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.4(ATM):c.3154-1G>T rs1555085973
NM_000051.4(ATM):c.3248A>G (p.His1083Arg) rs2081667850
NM_000051.4(ATM):c.3284+1G>A rs864622129
NM_000051.4(ATM):c.3284+1G>C rs864622129
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys) rs587781815
NM_000051.4(ATM):c.331+2800A>G
NM_000051.4(ATM):c.331+2_331+7del
NM_000051.4(ATM):c.332-1G>C
NM_000051.4(ATM):c.3402+1G>A rs1565439606
NM_000051.4(ATM):c.3402+2T>C rs876659430
NM_000051.4(ATM):c.3402+3A>C rs786203688
NM_000051.4(ATM):c.3403-1G>A rs1555091120
NM_000051.4(ATM):c.3576+1G>A rs876660621
NM_000051.4(ATM):c.3576+1G>T rs876660621
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn) rs587776551
NM_000051.4(ATM):c.3576_3576+7del
NM_000051.4(ATM):c.3577-1G>A
NM_000051.4(ATM):c.3577-1G>T
NM_000051.4(ATM):c.3577-201_3604delinsATCAAGAAAAGTTGAATGAATGTT
NM_000051.4(ATM):c.3577-2A>G rs887358871
NM_000051.4(ATM):c.3677A>G (p.Asp1226Gly) rs1555092445
NM_000051.4(ATM):c.3746+1G>T rs2082309297
NM_000051.4(ATM):c.3747-1G>A rs730881364
NM_000051.4(ATM):c.3747-1G>C rs730881364
NM_000051.4(ATM):c.3878A>G (p.Asn1293Ser) rs2082382534
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)
NM_000051.4(ATM):c.3993+2T>A
NM_000051.4(ATM):c.3993G>C (p.Gln1331His) rs863224566
NM_000051.4(ATM):c.3994-160T>C rs2082548304
NM_000051.4(ATM):c.3994-1G>T rs1057516238
NM_000051.4(ATM):c.4109+1G>A rs879254034
NM_000051.4(ATM):c.4109+1G>T rs879254034
NM_000051.4(ATM):c.4109+5G>A rs2082568277
NM_000051.4(ATM):c.4110-1G>C rs1060501692
NM_000051.4(ATM):c.4236+1G>T rs876660674
NM_000051.4(ATM):c.434T>G (p.Leu145Arg) rs1555059346
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.4(ATM):c.4435_4436+10del
NM_000051.4(ATM):c.4436+2T>C rs1555097898
NM_000051.4(ATM):c.4436G>A (p.Arg1479Lys) rs2135767002
NM_000051.4(ATM):c.4611+1del rs1565461824
NM_000051.4(ATM):c.4612-3_4616del rs773012957
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu) rs1034235291
NM_000051.4(ATM):c.4612_4621del (p.Val1538fs)
NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn) rs1555101921
NM_000051.4(ATM):c.4889A>G (p.Asp1630Gly) rs1565466579
NM_000051.4(ATM):c.4905_4909+16del
NM_000051.4(ATM):c.4909+1G>T rs756987454
NM_000051.4(ATM):c.496+1G>A rs876658500
NM_000051.4(ATM):c.496+286A>G
NM_000051.4(ATM):c.496+334A>G
NM_000051.4(ATM):c.497-1142dup
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.5177+2T>C
NM_000051.4(ATM):c.5178-1G>A rs1555105579
NM_000051.4(ATM):c.5178-1G>T rs1555105579
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu) rs373789346
NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg) rs1060501571
NM_000051.4(ATM):c.5309C>T (p.Ser1770Leu)
NM_000051.4(ATM):c.5319+1G>A rs876660175
NM_000051.4(ATM):c.5319+1G>T rs876660175
NM_000051.4(ATM):c.5435_5437del (p.Ala1812_Phe1813delinsVal)
NM_000051.4(ATM):c.5496+1G>A rs879254180
NM_000051.4(ATM):c.5496+2T>G rs1591713093
NM_000051.4(ATM):c.5496+2_5496+5del rs1565479572
NM_000051.4(ATM):c.5496+645T>G
NM_000051.4(ATM):c.5497-1G>A rs876660245
NM_000051.4(ATM):c.5674+1G>T rs1565482453
NM_000051.4(ATM):c.5675-3C>G rs876658545
NM_000051.4(ATM):c.5762+1G>A rs869312756
NM_000051.4(ATM):c.5762G>A (p.Arg1921Lys)
NM_000051.4(ATM):c.5763-18_5772del
NM_000051.4(ATM):c.5763-2A>G rs876659489
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile) rs587781963
NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly) rs1555110484
NM_000051.4(ATM):c.5918+1G>A rs1591746871
NM_000051.4(ATM):c.5918+1G>T rs1591746871
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys) rs1555110591
NM_000051.4(ATM):c.5919-2A>G rs746623393
NM_000051.4(ATM):c.59C>G (p.Ala20Gly) rs2078809726
NM_000051.4(ATM):c.6006+1G>A rs786202016
NM_000051.4(ATM):c.6006+1G>C rs786202016
NM_000051.4(ATM):c.6006G>A (p.Gln2002=) rs1591759073
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.4(ATM):c.6095+2T>C rs1057516525
NM_000051.4(ATM):c.6095+4A>G rs1555113632
NM_000051.4(ATM):c.6096-1G>C rs1591778339
NM_000051.4(ATM):c.6096-2A>G rs1057520704
NM_000051.4(ATM):c.6096-9_6096-5del rs879254095
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.4(ATM):c.6198+3A>G rs786202092
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.4(ATM):c.6238T>G (p.Tyr2080Asp) rs1064795467
NM_000051.4(ATM):c.6348-1G>A rs1057517302
NM_000051.4(ATM):c.6348-1G>C rs1057517302
NM_000051.4(ATM):c.6348-2A>C
NM_000051.4(ATM):c.6451A>C (p.Arg2151=)
NM_000051.4(ATM):c.6572+1G>A rs587779856
NM_000051.4(ATM):c.6573-12C>A rs1057521666
NM_000051.4(ATM):c.6573-1G>A rs1591128291
NM_000051.4(ATM):c.6573-1G>C rs1591128291
NM_000051.4(ATM):c.6573-1G>T
NM_000051.4(ATM):c.661A>T (p.Arg221Ter)
NM_000051.4(ATM):c.662+1G>A rs1060501690
NM_000051.4(ATM):c.663-2A>G rs886041931
NM_000051.4(ATM):c.663-3_663-2del
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer) rs1591129041
NM_000051.4(ATM):c.6807+1_6807+7del
NM_000051.4(ATM):c.6890A>C (p.Gln2297Pro) rs1565520560
NM_000051.4(ATM):c.6975+1G>A rs1565521129
NM_000051.4(ATM):c.6975+1G>T rs1565521129
NM_000051.4(ATM):c.6975+2T>C rs879254199
NM_000051.4(ATM):c.6976-10_6989del rs587779859
NM_000051.4(ATM):c.6976-11_6976-8delinsATA
NM_000051.4(ATM):c.6976-1G>T rs1591141963
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.6976-2A>G rs587782403
NM_000051.4(ATM):c.7089+1G>A rs777741666
NM_000051.4(ATM):c.7089+2T>G rs1057516235
NM_000051.4(ATM):c.7089G>C (p.Lys2363Asn)
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.72+1del
NM_000051.4(ATM):c.7219T>C (p.Ser2407Pro) rs1565526951
NM_000051.4(ATM):c.73-1G>A rs1555054043
NM_000051.4(ATM):c.73-3C>G rs1555054039
NM_000051.4(ATM):c.7307+2_7307+4delinsCC
NM_000051.4(ATM):c.7307+4A>G rs730881316
NM_000051.4(ATM):c.7308-1G>C rs1555122941
NM_000051.4(ATM):c.7308-2A>C rs1555122938
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro) rs1555123032
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.4(ATM):c.7515+1G>C
NM_000051.4(ATM):c.7516-1G>A
NM_000051.4(ATM):c.7516-1G>C
NM_000051.4(ATM):c.7516-2A>G
NM_000051.4(ATM):c.7629+1G>A rs1565532703
NM_000051.4(ATM):c.7629+1G>T
NM_000051.4(ATM):c.7630-12_7630-11del
NM_000051.4(ATM):c.7630-1G>A rs2086285148
NM_000051.4(ATM):c.7630-2A>G rs587779866
NM_000051.4(ATM):c.7630-3C>G rs587782448
NM_000051.4(ATM):c.7788+1G>C rs1565534524
NM_000051.4(ATM):c.7788+1G>T rs1565534524
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.7789-1G>A rs1591177953
NM_000051.4(ATM):c.7789-29_7789-16del
NM_000051.4(ATM):c.7789-4A>G rs2086401774
NM_000051.4(ATM):c.7789G>T (p.Asp2597Tyr) rs1555125212
NM_000051.4(ATM):c.7926A>T (p.Arg2642Ser)
NM_000051.4(ATM):c.7927+1G>A rs1555125532
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del) rs876660743
NM_000051.4(ATM):c.8010+1del rs876659350
NM_000051.4(ATM):c.8010G>C (p.Lys2670Asn)
NM_000051.4(ATM):c.8011-1G>C rs1555127017
NM_000051.4(ATM):c.8011-21_8015del
NM_000051.4(ATM):c.8096C>T (p.Pro2699Leu) rs879254209
NM_000051.4(ATM):c.8122G>C (p.Asp2708His) rs587782719
NM_000051.4(ATM):c.8122G>T (p.Asp2708Tyr) rs587782719
NM_000051.4(ATM):c.8146G>T (p.Val2716Phe) rs730881385
NM_000051.4(ATM):c.8148_8151+2del rs1565541335
NM_000051.4(ATM):c.8151+1G>C rs1591192583
NM_000051.4(ATM):c.8151G>A (p.Lys2717=) rs1591192550
NM_000051.4(ATM):c.8152-18T>G rs1591197705
NM_000051.4(ATM):c.8152-1G>A rs1398616877
NM_000051.4(ATM):c.8161G>A (p.Asp2721Asn) rs876659066
NM_000051.4(ATM):c.8248_8268del (p.Leu2750_Lys2756del) rs771146489
NM_000051.4(ATM):c.8268+1G>A rs876658957
NM_000051.4(ATM):c.8268+1G>T rs876658957
NM_000051.4(ATM):c.8268G>A (p.Lys2756=) rs1555128642
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn) rs1555128642
NM_000051.4(ATM):c.8269-14A>G
NM_000051.4(ATM):c.8269-2A>G
NM_000051.4(ATM):c.8416_8418+5del rs1591249480
NM_000051.4(ATM):c.8418+2T>C rs1060501713
NM_000051.4(ATM):c.8418G>A (p.Met2806Ile) rs762744146
NM_000051.4(ATM):c.8418G>T (p.Met2806Ile) rs762744146
NM_000051.4(ATM):c.8419-1G>A
NM_000051.4(ATM):c.8419-1G>C rs1555137920
NM_000051.4(ATM):c.8495G>C (p.Arg2832Pro) rs529296539
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del) rs786203976
NM_000051.4(ATM):c.8584+16A>G rs1322889530
NM_000051.4(ATM):c.8584+1G>A rs876658182
NM_000051.4(ATM):c.8585-1G>A rs876660066
NM_000051.4(ATM):c.8585-2A>G rs1060501700
NM_000051.4(ATM):c.8671+1G>A
NM_000051.4(ATM):c.8671+2T>G rs1057516229
NM_000051.4(ATM):c.8672-1G>A rs876660088
NM_000051.4(ATM):c.8672-1G>T rs876660088
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.4(ATM):c.8732_8752del (p.Thr2911_Gly2917del)
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr) rs756899044
NM_000051.4(ATM):c.8786_8786+3del rs1060501569
NM_000051.4(ATM):c.8842_8850+3824del
NM_000051.4(ATM):c.8850+1G>A rs1555143620
NM_000051.4(ATM):c.8850+1G>T
NM_000051.4(ATM):c.8850+2T>C rs1555143623
NM_000051.4(ATM):c.8851-2A>G rs886039647
NM_000051.4(ATM):c.8851-2A>T
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs) rs2091211325
NM_000051.4(ATM):c.902-1G>A rs1064793518
NM_000051.4(ATM):c.9022C>A (p.Arg3008Ser) rs587782292
NM_000051.4(ATM):c.9039dup (p.Gln3014fs) rs879253972
NM_000051.4(ATM):c.9054del (p.Gly3019fs)
NM_000051.4(ATM):c.9071del (p.Thr3024fs)
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter) rs1591387978
NM_000051.4(ATM):c.9170G>C (p.Ter3057Ser) rs2091262802
NM_000057.2(BLM):c.-4-4929_82del
NM_000057.2:c.741_742insALU
NM_000057.4(BLM):c.2193+1G>A rs865866188
NM_000057.4(BLM):c.2193+1G>T rs865866188
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2308-2A>G rs1248548542
NM_000057.4(BLM):c.2555+1G>A
NM_000057.4(BLM):c.2555+1G>C
NM_000057.4(BLM):c.2556-2A>G rs1596250255
NM_000057.4(BLM):c.2556G>T (p.Val852=) rs1896650229
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr) rs758311406
NM_000057.4(BLM):c.2T>C (p.Met1Thr) rs1057516593
NM_000057.4(BLM):c.3163T>G (p.Cys1055Gly)
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000057.4(BLM):c.799+1G>T rs1895641581
NM_000057.4(BLM):c.83C>G (p.Ser28Ter) rs2151145090
NM_000057.4(BLM):c.98+1G>A rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.99-1G>A
NM_000057.4(BLM):c.99-8_112del rs2151146678
NM_000059.3:c.2829_2830insALU
NM_000059.3:c.3390_3391insALU
NM_000059.3:c.3834_3835insALU
NM_000059.3:c.4993_4994insALU
NM_000059.3:c.5990_5991insL1
NM_000059.3:c.7649_7650insALU
NM_000059.3:c.8814_8815insALU
NM_000059.3:c.8933_8934insALU
NM_000059.3:c.9327_9328insALU
NM_000059.3:c.9451_9452insALU
NM_000059.4(BRCA2):c.-39-1_-39del rs758732038
NM_000059.4(BRCA2):c.-39-2A>G rs1555280053
NM_000059.4(BRCA2):c.-40+1G>A rs2072249096
NM_000059.4(BRCA2):c.-40+2T>C rs1593879845
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.1909+2T>A rs876658577
NM_000059.4(BRCA2):c.1910-1_1914del rs1593895760
NM_000059.4(BRCA2):c.316+1G>T rs397507303
NM_000059.4(BRCA2):c.316+1del
NM_000059.4(BRCA2):c.426-2A>G rs398122779
NM_000059.4(BRCA2):c.475+2T>C rs1555280966
NM_000059.4(BRCA2):c.475+4del rs276174848
NM_000059.4(BRCA2):c.476-1G>A rs397507340
NM_000059.4(BRCA2):c.516+1G>T rs397507762
NM_000059.4(BRCA2):c.516+4A>G rs2137450725
NM_000059.4(BRCA2):c.516G>A (p.Lys172=) rs80359790
NM_000059.4(BRCA2):c.516G>T (p.Lys172Asn) rs80359790
NM_000059.4(BRCA2):c.517-1G>C
NM_000059.4(BRCA2):c.517-2A>G rs81002858
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.517G>T (p.Gly173Cys) rs397507768
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly) rs397507359
NM_000059.4(BRCA2):c.631+1G>C rs81002897
NM_000059.4(BRCA2):c.631+3A>G rs397507840
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu) rs80358871
NM_000059.4(BRCA2):c.632-1G>A rs81002820
NM_000059.4(BRCA2):c.67+2T>G rs81002885
NM_000059.4(BRCA2):c.67+3A>C
NM_000059.4(BRCA2):c.67+3A>G rs1593880835
NM_000059.4(BRCA2):c.681+2dup rs587781486
NM_000059.4(BRCA2):c.681+4A>G rs397507884
NM_000059.4(BRCA2):c.682-1G>C rs81002831
NM_000059.4(BRCA2):c.682-3C>G
NM_000059.4(BRCA2):c.6841+2T>G rs1593909960
NM_000059.4(BRCA2):c.6938-1G>A rs886040936
NM_000059.4(BRCA2):c.6938-2A>G rs81002863
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7008-1G>A rs786204280
NM_000059.4(BRCA2):c.7435+2T>C rs1434072252
NM_000059.4(BRCA2):c.7436-1G>A
NM_000059.4(BRCA2):c.7436-2_7437del rs876659229
NM_000059.4(BRCA2):c.7510_7617+184del
NM_000059.4(BRCA2):c.7618-10T>G rs864622573
NM_000059.4(BRCA2):c.7618-187G>T
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys) rs587782715
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg) rs398122591
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.7795G>A (p.Glu2599Lys) rs41293509
NM_000059.4(BRCA2):c.7796A>G (p.Glu2599Gly) rs780715340
NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys) rs786202344
NM_000059.4(BRCA2):c.7804_7805+9del
NM_000059.4(BRCA2):c.7806-1G>C rs81002860
NM_000059.4(BRCA2):c.7806-2A>C rs81002836
NM_000059.4(BRCA2):c.7819A>C (p.Thr2607Pro) rs80359008
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.4(BRCA2):c.7855T>C (p.Trp2619Arg) rs1593923998
NM_000059.4(BRCA2):c.7867C>T (p.His2623Tyr) rs1566244783
NM_000059.4(BRCA2):c.7874G>T (p.Arg2625Ile) rs864622552
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7880T>A (p.Ile2627Asn) rs876658736
NM_000059.4(BRCA2):c.793+1G>C rs81002846
NM_000059.4(BRCA2):c.793+1G>T rs81002846
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.4(BRCA2):c.7967T>A (p.Leu2656Gln) rs886037817
NM_000059.4(BRCA2):c.7976+5G>T rs786201180
NM_000059.4(BRCA2):c.7977-1G>A rs81002874
NM_000059.4(BRCA2):c.7977-1G>T rs81002874
NM_000059.4(BRCA2):c.7977-4_7977-3del rs876659992
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp) rs80359029
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8059G>T (p.Val2687Phe) rs80359044
NM_000059.4(BRCA2):c.8059_8064del (p.Val2687_Leu2688del) rs1593924996
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His) rs80359061
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile) rs80359062
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn) rs41293511
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu) rs1060502432
NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val) rs80359063
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser) rs56371528
NM_000059.4(BRCA2):c.8243G>T (p.Gly2748Val) rs80359071
NM_000059.4(BRCA2):c.8252T>G (p.Ile2751Ser) rs1555287065
NM_000059.4(BRCA2):c.8331+1G>A rs81002837
NM_000059.4(BRCA2):c.8331+1G>T rs81002837
NM_000059.4(BRCA2):c.8331+2T>C rs398122602
NM_000059.4(BRCA2):c.8331+2T>G rs398122602
NM_000059.4(BRCA2):c.8332-1G>C rs397507979
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8332-3384A>T
NM_000059.4(BRCA2):c.8332-3C>G rs587782093
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile) rs1434821822
NM_000059.4(BRCA2):c.8351G>T (p.Arg2784Leu) rs80359076
NM_000059.4(BRCA2):c.8362T>C (p.Trp2788Arg) rs80359079
NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser) rs80359080
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro) rs28897751
NM_000059.4(BRCA2):c.8375T>G (p.Leu2792Arg) rs28897751
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.8384_8395del (p.Phe2795_Arg2799delinsTer) rs587781689
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8486_8487+7delinsCCTATG
NM_000059.4(BRCA2):c.8488-1G>T rs397507404
NM_000059.4(BRCA2):c.8488-1_8496delinsCT rs1555287731
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys) rs398122710
NM_000059.4(BRCA2):c.8633-1G>A rs398122711
NM_000059.4(BRCA2):c.8633-24_8634del rs886040945
NM_000059.4(BRCA2):c.8633-27_8633-9del
NM_000059.4(BRCA2):c.8633-2A>G rs81002886
NM_000059.4(BRCA2):c.8633-33_8726delinsCAGACCCAGCTT
NM_000059.4(BRCA2):c.8754+1G>T rs397508006
NM_000059.4(BRCA2):c.8754+1del rs1593935041
NM_000059.4(BRCA2):c.8754+3G>C rs397508007
NM_000059.4(BRCA2):c.8754+4A>T rs81002893
NM_000059.4(BRCA2):c.8754+5G>A rs81002813
NM_000059.4(BRCA2):c.8754+5G>C rs81002813
NM_000059.4(BRCA2):c.8755-1G>C rs81002812
NM_000059.4(BRCA2):c.8755-2A>G rs1566252482
NM_000059.4(BRCA2):c.8755-3_8755-2delinsGG
NM_000059.4(BRCA2):c.8755-6_8755-2del
NM_000059.4(BRCA2):c.8755-9T>A rs397507413
NM_000059.4(BRCA2):c.8953+1G>A rs81002882
NM_000059.4(BRCA2):c.8953+1del rs730881617
NM_000059.4(BRCA2):c.8954-2_8959del rs1566252995
NM_000059.4(BRCA2):c.8954-3C>G rs81002844
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del) rs80359736
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9005A>G (p.Glu3002Gly) rs1555288459
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp) rs397507416
NM_000059.4(BRCA2):c.9052A>G (p.Ser3018Gly) rs431825373
NM_000059.4(BRCA2):c.9116_9117+4del
NM_000059.4(BRCA2):c.9117+1del rs869320801
NM_000059.4(BRCA2):c.9117+3A>G rs1555288517
NM_000059.4(BRCA2):c.9118-2A>T rs81002862
NM_000059.4(BRCA2):c.9155G>T (p.Arg3052Leu) rs80359171
NM_000059.4(BRCA2):c.9217G>T (p.Asp3073Tyr) rs876658262
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.4(BRCA2):c.9254_9256+11del rs1555288584
NM_000059.4(BRCA2):c.9256+1G>C rs81002883
NM_000059.4(BRCA2):c.9256+2T>A
NM_000059.4(BRCA2):c.9257-1G>A rs81002889
NM_000059.4(BRCA2):c.9257-1G>T
NM_000059.4(BRCA2):c.9257-2A>G rs886040954
NM_000059.4(BRCA2):c.9364G>C (p.Ala3122Pro) rs587782313
NM_000059.4(BRCA2):c.9373C>T (p.Leu3125Phe) rs1555289566
NM_000059.4(BRCA2):c.9501+1G>A rs397508058
NM_000059.4(BRCA2):c.9501+1G>T rs397508058
NM_000059.4(BRCA2):c.9502-1G>A
NM_000059.4(BRCA2):c.9502-2A>C rs81002868
NM_000059.4(BRCA2):c.9502-8_9502-3delinsAA
NM_000059.4(BRCA2):c.9502-8_9504dup
NM_000059.4(BRCA2):c.9649-12T>G
NM_000059.4(BRCA2):c.9649-1G>C rs1555289898
NM_000059.4(BRCA2):c.9895C>T (p.Gln3299Ter) rs1555289997
NM_000077.5(CDKN2A):c.-21C>T rs762129503
NM_000077.5(CDKN2A):c.113C>G (p.Pro38Arg)
NM_000077.5(CDKN2A):c.143C>G (p.Pro48Arg) rs763804037
NM_000077.5(CDKN2A):c.143C>T (p.Pro48Leu)
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser) rs199907548
NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro) rs587778189
NM_000077.5(CDKN2A):c.150+2T>G
NM_000077.5(CDKN2A):c.151-1G>T rs730881677
NM_000077.5(CDKN2A):c.151-2A>G rs1554654224
NM_000077.5(CDKN2A):c.154ATG[2] (p.Met54del) rs2131096613
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile) rs104894095
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.5(CDKN2A):c.179C>A (p.Ala60Glu) rs36204594
NM_000077.5(CDKN2A):c.183GCT[5] (p.Leu65dup) rs2131096063
NM_000077.5(CDKN2A):c.199G>C (p.Gly67Arg) rs758389471
NM_000077.5(CDKN2A):c.202G>C (p.Ala68Pro) rs1819719137
NM_000077.5(CDKN2A):c.202_203delinsTT (p.Ala68Leu) rs876658534
NM_000077.5(CDKN2A):c.203C>T (p.Ala68Val) rs1060501260
NM_000077.5(CDKN2A):c.212A>G (p.Asn71Ser) rs559848002
NM_000077.5(CDKN2A):c.213C>A (p.Asn71Lys)
NM_000077.5(CDKN2A):c.250G>A (p.Asp84Asn) rs11552822
NM_000077.5(CDKN2A):c.251A>C (p.Asp84Ala) rs587782792
NM_000077.5(CDKN2A):c.260G>C (p.Arg87Pro) rs878853647
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro) rs754806883
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn) rs121913381
NM_000077.5(CDKN2A):c.322G>T (p.Asp108Tyr) rs121913381
NM_000077.5(CDKN2A):c.334C>G (p.Arg112Gly) rs876660436
NM_000077.5(CDKN2A):c.340_355del (p.Pro114fs) rs1554653956
NM_000077.5(CDKN2A):c.341C>G (p.Pro114Arg)
NM_000077.5(CDKN2A):c.353C>T (p.Ala118Val) rs1060501270
NM_000077.5(CDKN2A):c.379G>C (p.Ala127Pro) rs6413464
NM_000077.5(CDKN2A):c.457+1_457+10del rs1587330284
NM_000077.5(CDKN2A):c.47T>C (p.Leu16Pro) rs864622263
NM_000077.5(CDKN2A):c.52_57dup (p.Thr18_Ala19dup) rs1563892769
NM_000077.5(CDKN2A):c.58G>C (p.Ala20Pro) rs760065045
NM_000077.5(CDKN2A):c.67G>A (p.Gly23Ser) rs1131691186
NM_000077.5(CDKN2A):c.67G>C (p.Gly23Arg) rs1131691186
NM_000077.5(CDKN2A):c.67G>T (p.Gly23Cys) rs1131691186
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp) rs1064794292
NM_000077.5(CDKN2A):c.95T>C (p.Leu32Pro) rs878853650
NM_000136.3(FANCC):c.1534-1G>T rs1364238660
NM_000136.3(FANCC):c.251-2A>C rs1057517219
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.521+1G>T
NM_000136.3(FANCC):c.686+1G>C rs1057517125
NM_000136.3(FANCC):c.687-1G>A rs1588134748
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1_996+2insGA rs1825770738
NM_000136.3(FANCC):c.997-1G>A rs1588070986
NM_000143.4(FH):c.1000A>C (p.Ser334Arg) rs587782216
NM_000143.4(FH):c.1007T>G (p.Met336Arg) rs863223972
NM_000143.4(FH):c.1016C>A (p.Ala339Glu) rs1659852423
NM_000143.4(FH):c.1084G>A (p.Glu362Lys) rs121913119
NM_000143.4(FH):c.1084G>C (p.Glu362Gln) rs121913119
NM_000143.4(FH):c.1094G>A (p.Ser365Asn) rs1131691238
NM_000143.4(FH):c.1108+2T>A
NM_000143.4(FH):c.1112A>G (p.Lys371Arg) rs863224005
NM_000143.4(FH):c.1120C>A (p.Pro374Thr) rs876660446
NM_000143.4(FH):c.1129T>C (p.Cys377Arg) rs398123161
NM_000143.4(FH):c.1153_1155dup (p.Ala385_Gln386insAla)
NM_000143.4(FH):c.1157A>G (p.Gln386Arg) rs750447792
NM_000143.4(FH):c.1165G>A (p.Gly389Arg)
NM_000143.4(FH):c.1192G>A (p.Gly398Ser)
NM_000143.4(FH):c.1202G>A (p.Gly401Glu) rs1573879289
NM_000143.4(FH):c.1205A>G (p.His402Arg) rs886039366
NM_000143.4(FH):c.1236+2T>C
NM_000143.4(FH):c.1237-1G>T rs1573878149
NM_000143.4(FH):c.1256C>T (p.Ser419Leu) rs1131691244
NM_000143.4(FH):c.1268T>G (p.Leu423Arg) rs863224009
NM_000143.4(FH):c.1283_1294del (p.Val428_Thr431del)
NM_000143.4(FH):c.132+5G>A rs1060499627
NM_000143.4(FH):c.1390+1G>T rs886039367
NM_000143.4(FH):c.1390+2T>C rs1558396285
NM_000143.4(FH):c.1391G>T (p.Gly464Val) rs1131691250
NM_000143.4(FH):c.1519_1521del (p.Leu507del)
NM_000143.4(FH):c.1520T>C (p.Leu507Pro) rs1425094515
NM_000143.4(FH):c.152G>A (p.Arg51Gln) rs976734433
NM_000143.4(FH):c.214A>C (p.Thr72Pro) rs886039362
NM_000143.4(FH):c.275TTA[1] (p.Ile93del) rs1573886490
NM_000143.4(FH):c.284C>A (p.Ala95Asp)
NM_000143.4(FH):c.349G>C (p.Ala117Pro) rs886039363
NM_000143.4(FH):c.378+2T>C rs1131691241
NM_000143.4(FH):c.378G>C (p.Glu126Asp) rs1573886367
NM_000143.4(FH):c.379-1G>C rs1553341623
NM_000143.4(FH):c.404A>G (p.His135Arg) rs786202833
NM_000143.4(FH):c.431G>T (p.Gly144Val) rs1057521425
NM_000143.4(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.4(FH):c.439A>G (p.Thr147Ala) rs863223983
NM_000143.4(FH):c.450T>A (p.Asn150Lys) rs1131691242
NM_000143.4(FH):c.470T>G (p.Ile157Ser) rs2147921876
NM_000143.4(FH):c.478A>G (p.Arg160Gly) rs878853694
NM_000143.4(FH):c.482C>A (p.Ala161Glu)
NM_000143.4(FH):c.524T>G (p.Val175Gly)
NM_000143.4(FH):c.555+5G>A
NM_000143.4(FH):c.556-2A>T rs750273092
NM_000143.4(FH):c.557G>A (p.Ser186Asn) rs587782618
NM_000143.4(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.4(FH):c.562A>G (p.Asn188Asp)
NM_000143.4(FH):c.566A>T (p.Asp189Val) rs1064793125
NM_000143.4(FH):c.575C>T (p.Pro192Leu) rs1573883342
NM_000143.4(FH):c.584T>C (p.Met195Thr) rs863223965
NM_000143.4(FH):c.591TGC[2] (p.Ala200del) rs786202907
NM_000143.4(FH):c.653T>G (p.Leu218Arg) rs1553341345
NM_000143.4(FH):c.738+1G>A rs1659988368
NM_000143.4(FH):c.738+2T>C rs1060500901
NM_000143.4(FH):c.738G>C (p.Gln246His) rs2147919372
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup) rs863223984
NM_000143.4(FH):c.816_836del (p.Ala273_Val279del) rs863223985
NM_000143.4(FH):c.827G>A (p.Gly276Asp) rs2147917609
NM_000143.4(FH):c.827G>T (p.Gly276Val)
NM_000143.4(FH):c.839G>A (p.Gly280Asp) rs863223969
NM_000143.4(FH):c.842C>G (p.Thr281Arg)
NM_000143.4(FH):c.905-1G>C rs797044973
NM_000143.4(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.4(FH):c.950C>T (p.Ala317Val) rs2147916281
NM_000143.4(FH):c.955G>T (p.Asp319Tyr)
NM_000143.4(FH):c.956A>T (p.Asp319Val)
NM_000143.4(FH):c.965T>A (p.Val322Asp)
NM_000143.4(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000143.4(FH):c.977G>A (p.Gly326Glu) rs1553341037
NM_000143.4(FH):c.988A>C (p.Thr330Pro) rs776313200
NM_000143.4(FH):c.998G>A (p.Cys333Tyr) rs1553341032
NM_000179.2(MSH6):c.-127_196dup323
NM_000179.2:c.1826_1827insALU
NM_000179.2:c.3311_3312insSVA
NM_000179.2:c.3510_3511insALU
NM_000179.3(MSH6):c.1100A>G (p.His367Arg) rs1553412495
NM_000179.3(MSH6):c.1147AGG[2] (p.Arg385del) rs267608043
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu) rs863224614
NM_000179.3(MSH6):c.1450G>A (p.Glu484Lys) rs587782706
NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg) rs587779778
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.3(MSH6):c.2054G>A (p.Gly685Asp)
NM_000179.3(MSH6):c.2295C>G (p.Cys765Trp) rs63750985
NM_000179.3(MSH6):c.2333T>C (p.Leu778Pro)
NM_000179.3(MSH6):c.2341C>T (p.Pro781Ser) rs587779235
NM_000179.3(MSH6):c.2375T>C (p.Leu792Pro) rs587779236
NM_000179.3(MSH6):c.2392_2394del (p.Leu798del)
NM_000179.3(MSH6):c.2393T>C (p.Leu798Pro)
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter) rs746306598
NM_000179.3(MSH6):c.2559G>C (p.Lys853Asn) rs765873566
NM_000179.3(MSH6):c.2559G>T (p.Lys853Asn)
NM_000179.3(MSH6):c.2591G>A (p.Gly864Glu) rs587781306
NM_000179.3(MSH6):c.260+1G>C rs1553408467
NM_000179.3(MSH6):c.260+2T>G
NM_000179.3(MSH6):c.260+2_260+3delinsAG rs1064794075
NM_000179.3(MSH6):c.260G>C (p.Ser87Thr) rs1114167734
NM_000179.3(MSH6):c.261-2del
NM_000179.3(MSH6):c.2873A>G (p.Gln958Arg) rs876660185
NM_000179.3(MSH6):c.2874_2885del (p.Gln958_Ile962delinsHis) rs1572729044
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.3(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.3(MSH6):c.3023C>T (p.Thr1008Ile) rs1558667779
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.3172+1G>C rs587779255
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.3(MSH6):c.3172G>T (p.Asp1058Tyr)
NM_000179.3(MSH6):c.3173-10_3173-6del rs781520783
NM_000179.3(MSH6):c.3173-1G>A rs397515875
NM_000179.3(MSH6):c.3173-1_3173del rs587779256
NM_000179.3(MSH6):c.3173-1del
NM_000179.3(MSH6):c.3173-2A>C rs1553331242
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.3(MSH6):c.3356_3358delinsGAT (p.Glu1119_Glu1120delinsGlyTer) rs1114167695
NM_000179.3(MSH6):c.3400G>C (p.Gly1134Arg) rs1114167697
NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser) rs63751063
NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp) rs1316409501
NM_000179.3(MSH6):c.3416G>T (p.Gly1139Val) rs1316409501
NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg) rs864622607
NM_000179.3(MSH6):c.3438+2T>C rs1033749344
NM_000179.3(MSH6):c.3438G>C (p.Gln1146His) rs1114167759
NM_000179.3(MSH6):c.3438G>T (p.Gln1146His)
NM_000179.3(MSH6):c.3452C>A (p.Ala1151Asp) rs587782625
NM_000179.3(MSH6):c.3461C>A (p.Ala1154Asp) rs786202842
NM_000179.3(MSH6):c.3464A>G (p.Gln1155Arg) rs1572738445
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser) rs587779264
NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del) rs63751427
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp) rs587779935
NM_000179.3(MSH6):c.3556+2T>C rs1669882321
NM_000179.3(MSH6):c.3556+3_3556+13del rs587779269
NM_000179.3(MSH6):c.3556+3_3556+6del
NM_000179.3(MSH6):c.3556+4_3556+8del rs1572739119
NM_000179.3(MSH6):c.3557-1G>A
NM_000179.3(MSH6):c.3557-1G>T rs1114167723
NM_000179.3(MSH6):c.3557-2A>C
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000179.3(MSH6):c.3632T>G (p.Leu1211Arg)
NM_000179.3(MSH6):c.3646+1G>T rs1553332772
NM_000179.3(MSH6):c.3646+1del
NM_000179.3(MSH6):c.3646+2T>C rs1553332776
NM_000179.3(MSH6):c.3646+2T>G
NM_000179.3(MSH6):c.3646G>A (p.Gly1216Arg) rs1114167690
NM_000179.3(MSH6):c.3647-2A>C rs267608111
NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile) rs63750949
NM_000179.3(MSH6):c.3683_3691del (p.Ala1228_Ala1230del) rs2104538620
NM_000179.3(MSH6):c.3691GTT[1] (p.Val1232del) rs587779284
NM_000179.3(MSH6):c.36dup (p.Lys13fs) rs2103932294
NM_000179.3(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup) rs63750523
NM_000179.3(MSH6):c.3706G>C (p.Ala1236Pro) rs1553333039
NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr) rs1021631442
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del) rs876658650
NM_000179.3(MSH6):c.3791_3801+25del
NM_000179.3(MSH6):c.3801+1G>A
NM_000179.3(MSH6):c.3801+1del rs1553333185
NM_000179.3(MSH6):c.3801+2T>C rs1558392617
NM_000179.3(MSH6):c.3802-7_3802-4del rs876661171
NM_000179.3(MSH6):c.3851_3871del (p.Thr1284_Ile1290del) rs1572746651
NM_000179.3(MSH6):c.3889_3891delinsGG (p.Ser1297fs)
NM_000179.3(MSH6):c.3916_3920dup (p.Asn1307fs) rs1670120965
NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs) rs587779295
NM_000179.3(MSH6):c.3927_3938dup (p.Glu1310_Ile1313dup) rs1670125444
NM_000179.3(MSH6):c.3929_3938del (p.Glu1310fs)
NM_000179.3(MSH6):c.3939dup (p.Gln1314fs) rs1553333633
NM_000179.3(MSH6):c.3946G>C (p.Gly1316Arg) rs773675555
NM_000179.3(MSH6):c.3947G>A (p.Gly1316Glu) rs876661174
NM_000179.3(MSH6):c.3948_3953delinsCC (p.His1317fs)
NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs) rs1558394336
NM_000179.3(MSH6):c.3957_3958dup (p.Ala1320fs)
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs) rs587779297
NM_000179.3(MSH6):c.4000_4001+20del
NM_000179.3(MSH6):c.4001+1G>C rs1114167729
NM_000179.3(MSH6):c.4001+1G>T
NM_000179.3(MSH6):c.4001+1_4001+25del
NM_000179.3(MSH6):c.4001+2T>A rs267608131
NM_000179.3(MSH6):c.4002-1G>A rs1302369946
NM_000179.3(MSH6):c.4004_4007dup (p.Cys1337fs) rs876658497
NM_000179.3(MSH6):c.4005_4008dup (p.Cys1337fs) rs1670208407
NM_000179.3(MSH6):c.457+1G>T rs2104112957
NM_000179.3(MSH6):c.457+2dup rs876661224
NM_000179.3(MSH6):c.457G>C (p.Gly153Arg) rs1060502885
NM_000179.3(MSH6):c.457G>T (p.Gly153Cys) rs1060502885
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) rs121913246
NM_000245.4(MET):c.3749T>C (p.Met1250Thr) rs121913245
NM_000249.3(MLH1):c.2104_2105delAG rs63751651
NM_000249.3:c.(1667+1_1668-1)_(1731+1_1732-1)dup
NM_000249.3:c.(545+1_546-1)_(1558+1_1559-1)dup
NM_000249.4(MLH1):c.1024_1038+1del rs1553648201
NM_000249.4(MLH1):c.1038+2T>A
NM_000249.4(MLH1):c.1038+2T>C
NM_000249.4(MLH1):c.1039-2A>T rs267607815
NM_000249.4(MLH1):c.1039-3C>G rs730881737
NM_000249.4(MLH1):c.109G>C (p.Glu37Gln) rs63751012
NM_000249.4(MLH1):c.114C>G (p.Asn38Lys) rs267607706
NM_000249.4(MLH1):c.115T>C (p.Cys39Arg) rs587778890
NM_000249.4(MLH1):c.116+1G>A rs267607709
NM_000249.4(MLH1):c.116+1G>T rs267607709
NM_000249.4(MLH1):c.116+2T>A
NM_000249.4(MLH1):c.116+96C>T
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.4(MLH1):c.116_116+2del
NM_000249.4(MLH1):c.117-11T>A rs267607711
NM_000249.4(MLH1):c.117-1G>C
NM_000249.4(MLH1):c.117-2A>C
NM_000249.4(MLH1):c.117-3C>G
NM_000249.4(MLH1):c.1178T>C (p.Leu393Pro) rs786203413
NM_000249.4(MLH1):c.117T>G (p.Cys39Trp) rs1305605404
NM_000249.4(MLH1):c.121G>T (p.Asp41Tyr)
NM_000249.4(MLH1):c.131C>A (p.Ser44Tyr) rs63751109
NM_000249.4(MLH1):c.131_132delinsTT (p.Ser44Phe) rs2125710774
NM_000249.4(MLH1):c.1409+2T>C rs587778911
NM_000249.4(MLH1):c.1410-2A>G rs746536721
NM_000249.4(MLH1):c.1558+1G>C
NM_000249.4(MLH1):c.1558+2T>A rs267607831
NM_000249.4(MLH1):c.1558+2T>C rs267607831
NM_000249.4(MLH1):c.1558_1558+1delinsAA rs1575554246
NM_000249.4(MLH1):c.1559-1G>A rs267607837
NM_000249.4(MLH1):c.1559-1G>C rs267607837
NM_000249.4(MLH1):c.1588_1590del (p.Phe530del) rs587778930
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp) rs267607843
NM_000249.4(MLH1):c.1625A>C (p.Gln542Pro) rs63750511
NM_000249.4(MLH1):c.1649T>G (p.Leu550Arg)
NM_000249.4(MLH1):c.1652A>C (p.Asn551Thr) rs63750271
NM_000249.4(MLH1):c.1667+1del rs1553658246
NM_000249.4(MLH1):c.1667+2T>C rs878853780
NM_000249.4(MLH1):c.1668-2del
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro) rs63750059
NM_000249.4(MLH1):c.1691T>G (p.Leu564Arg)
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val) rs1559578814
NM_000249.4(MLH1):c.170_181del (p.Lys57_Gln60del) rs1575395286
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser) rs587781796
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro) rs63751608
NM_000249.4(MLH1):c.1731+1_1731+3delinsT
NM_000249.4(MLH1):c.1731+2T>C rs267607856
NM_000249.4(MLH1):c.1731+2dup
NM_000249.4(MLH1):c.1731+5G>C
NM_000249.4(MLH1):c.1731G>T (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1732-9_1747delinsCC
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.4(MLH1):c.1745T>G (p.Leu582Arg)
NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro) rs267607865
NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp) rs63750587
NM_000249.4(MLH1):c.1823C>A (p.Ala608Asp) rs267607864
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.1843_1845del (p.Leu615del)
NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.4(MLH1):c.185A>C (p.Gln62Pro) rs2081171469
NM_000249.4(MLH1):c.1865T>C (p.Leu622Pro) rs63750693
NM_000249.4(MLH1):c.1865T>G (p.Leu622Arg)
NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser) rs587778952
NM_000249.4(MLH1):c.187G>C (p.Asp63His) rs63750850
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.4(MLH1):c.1896+2T>C rs267607869
NM_000249.4(MLH1):c.1896G>C (p.Glu632Asp)
NM_000249.4(MLH1):c.1896G>T (p.Glu632Asp)
NM_000249.4(MLH1):c.1897-14_1897-1del
NM_000249.4(MLH1):c.1897-15_1901del
NM_000249.4(MLH1):c.1906_1907delinsGG (p.Leu636Gly)
NM_000249.4(MLH1):c.1907T>C (p.Leu636Pro) rs63750825
NM_000249.4(MLH1):c.1918C>A (p.Pro640Thr) rs63749792
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.4(MLH1):c.1936T>G (p.Tyr646Asp)
NM_000249.4(MLH1):c.1937A>C (p.Tyr646Ser) rs35045067
NM_000249.4(MLH1):c.193G>T (p.Gly65Cys)
NM_000249.4(MLH1):c.1942C>A (p.Pro648Thr)
NM_000249.4(MLH1):c.1943C>A (p.Pro648His)
NM_000249.4(MLH1):c.1943C>G (p.Pro648Arg) rs63750610
NM_000249.4(MLH1):c.194G>A (p.Gly65Asp) rs63751465
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.4(MLH1):c.1989+2T>C rs1553664119
NM_000249.4(MLH1):c.1989+3dup
NM_000249.4(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.4(MLH1):c.1989G>C (p.Glu663Asp) rs63751662
NM_000249.4(MLH1):c.1989_1989+8del rs1575628928
NM_000249.4(MLH1):c.1990-11_1990-2delinsTT
NM_000249.4(MLH1):c.1990-2A>T
NM_000249.4(MLH1):c.1990-3C>G rs267607882
NM_000249.4(MLH1):c.1995_1996delinsG (p.Asn665fs)
NM_000249.4(MLH1):c.2019del (p.Phe673fs)
NM_000249.4(MLH1):c.2024del (p.Ser675fs)
NM_000249.4(MLH1):c.2027T>G (p.Leu676Arg) rs63750242
NM_000249.4(MLH1):c.2028_2032delinsT (p.Ser677fs)
NM_000249.4(MLH1):c.2032_2049del (p.Lys678_Phe683del)
NM_000249.4(MLH1):c.2037del (p.Glu679fs)
NM_000249.4(MLH1):c.203T>G (p.Ile68Ser) rs63750281
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val) rs63750864
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser) rs587778972
NM_000249.4(MLH1):c.2048_2050del (p.Phe683del) rs1553664506
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe) rs1064796101
NM_000249.4(MLH1):c.207+3A>C
NM_000249.4(MLH1):c.207+5G>A rs587781518
NM_000249.4(MLH1):c.207+5G>C rs587781518
NM_000249.4(MLH1):c.2072del (p.Ile691fs)
NM_000249.4(MLH1):c.2096del (p.Gly699fs)
NM_000249.4(MLH1):c.2103+2T>A
NM_000249.4(MLH1):c.2103+2T>C
NM_000249.4(MLH1):c.2103+2T>G
NM_000249.4(MLH1):c.2104-1G>A rs587778978
NM_000249.4(MLH1):c.2104-1G>C
NM_000249.4(MLH1):c.2104-7_2147del
NM_000249.4(MLH1):c.2141_2142dup (p.Thr715fs)
NM_000249.4(MLH1):c.2156_2172del (p.Ile719fs)
NM_000249.4(MLH1):c.2158_2161del (p.Val720fs)
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly) rs587778985
NM_000249.4(MLH1):c.2162del (p.Tyr721fs) rs786202767
NM_000249.4(MLH1):c.2172del (p.Leu724fs)
NM_000249.4(MLH1):c.2178del (p.His727fs)
NM_000249.4(MLH1):c.218T>C (p.Leu73Pro) rs397514684
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000249.4(MLH1):c.2219del (p.Ile740fs) rs1575640960
NM_000249.4(MLH1):c.2221del (p.Leu741fs)
NM_000249.4(MLH1):c.2240_2241insGT (p.Asp748fs)
NM_000249.4(MLH1):c.2244_2249delinsG (p.Asp748fs)
NM_000249.4(MLH1):c.2248_2249del (p.Tyr750fs) rs786202326
NM_000249.4(MLH1):c.2250_2251del (p.Tyr750_Lys751delinsTer)
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.4(MLH1):c.2253del (p.Val752fs) rs267607901
NM_000249.4(MLH1):c.2255_2268delinsA (p.Val752fs)
NM_000249.4(MLH1):c.2263_2264del (p.Arg755fs) rs1559597322
NM_000249.4(MLH1):c.2269T>C (p.Ter757Gln)
NM_000249.4(MLH1):c.2271A>C (p.Ter757Tyr) rs267607908
NM_000249.4(MLH1):c.2271A>T (p.Ter757Tyr)
NM_000249.4(MLH1):c.242CTA[1] (p.Thr82del) rs786202328
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.4(MLH1):c.27G>A (p.Arg9=) rs759680369
NM_000249.4(MLH1):c.292G>A (p.Gly98Ser) rs267607725
NM_000249.4(MLH1):c.292G>C (p.Gly98Arg) rs267607725
NM_000249.4(MLH1):c.296T>C (p.Phe99Ser)
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.4(MLH1):c.301G>C (p.Gly101Arg) rs267607726
NM_000249.4(MLH1):c.301G>T (p.Gly101Cys)
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp) rs267607727
NM_000249.4(MLH1):c.302G>T (p.Gly101Val) rs267607727
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.305A>C (p.Glu102Ala) rs1553640334
NM_000249.4(MLH1):c.306+2T>G rs1553640340
NM_000249.4(MLH1):c.307-1G>A
NM_000249.4(MLH1):c.307-1G>C rs267607736
NM_000249.4(MLH1):c.320T>A (p.Ile107Lys) rs63750507
NM_000249.4(MLH1):c.332C>A (p.Ala111Asp)
NM_000249.4(MLH1):c.344T>A (p.Ile115Asn) rs764120517
NM_000249.4(MLH1):c.350C>A (p.Thr117Lys)
NM_000249.4(MLH1):c.380+1del
NM_000249.4(MLH1):c.380+2T>C rs267607742
NM_000249.4(MLH1):c.380G>C (p.Arg127Thr) rs63751595
NM_000249.4(MLH1):c.380G>T (p.Arg127Ile) rs63751595
NM_000249.4(MLH1):c.380_380+1insTAT
NM_000249.4(MLH1):c.439G>C (p.Gly147Arg) rs267607747
NM_000249.4(MLH1):c.440G>A (p.Gly147Glu) rs1060500702
NM_000249.4(MLH1):c.453+1G>A rs267607750
NM_000249.4(MLH1):c.453+1G>C rs267607750
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.453+2T>A
NM_000249.4(MLH1):c.453+2dup
NM_000249.4(MLH1):c.454-10_455delinsGAACA
NM_000249.4(MLH1):c.454-3_454delinsT
NM_000249.4(MLH1):c.454-7T>A
NM_000249.4(MLH1):c.455T>G (p.Val152Gly) rs1559523949
NM_000249.4(MLH1):c.485_523del (p.Arg162_Gly174del)
NM_000249.4(MLH1):c.538_545+27delinsTG
NM_000249.4(MLH1):c.543C>T (p.Gly181=) rs1481129490
NM_000249.4(MLH1):c.545+1G>C
NM_000249.4(MLH1):c.545+1_545+6del
NM_000249.4(MLH1):c.546-1G>A rs587779022
NM_000249.4(MLH1):c.546-1G>C rs587779022
NM_000249.4(MLH1):c.546-1G>T
NM_000249.4(MLH1):c.554T>G (p.Val185Gly) rs63750515
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.4(MLH1):c.581T>G (p.Val194Gly) rs876658962
NM_000249.4(MLH1):c.588+1del rs267607773
NM_000249.4(MLH1):c.588+2T>C
NM_000249.4(MLH1):c.588+5G>C rs267607768
NM_000249.4(MLH1):c.588+5G>T rs267607768
NM_000249.4(MLH1):c.589-2A>T
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.678-18_685del
NM_000249.4(MLH1):c.69A>C (p.Glu23Asp)
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp) rs63750555
NM_000249.4(MLH1):c.71_75del (p.Val24fs) rs1553637293
NM_000249.4(MLH1):c.730G>C (p.Gly244Arg)
NM_000249.4(MLH1):c.731G>T (p.Gly244Val) rs63750303
NM_000249.4(MLH1):c.739T>C (p.Ser247Pro) rs63750948
NM_000249.4(MLH1):c.760A>T (p.Lys254Ter)
NM_000249.4(MLH1):c.770_790+82delinsA
NM_000249.4(MLH1):c.783C>T (p.Phe261=) rs768119795
NM_000249.4(MLH1):c.789_790+4del
NM_000249.4(MLH1):c.790+1_790+2delinsTA
NM_000249.4(MLH1):c.790+3A>C
NM_000249.4(MLH1):c.790+3A>T rs267607792
NM_000249.4(MLH1):c.790+4A>C rs267607786
NM_000249.4(MLH1):c.790+4A>G rs267607786
NM_000249.4(MLH1):c.790+4del
NM_000249.4(MLH1):c.791-1G>A rs267607795
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.4(MLH1):c.875T>C (p.Leu292Pro) rs63750517
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg) rs63751598
NM_000249.4(MLH1):c.884+1G>T
NM_000249.4(MLH1):c.884G>T (p.Ser295Ile) rs63750144
NM_000249.4(MLH1):c.885-1G>A rs1553647894
NM_000249.4(MLH1):c.885-25_1014delinsCA
NM_000249.4(MLH1):c.885-2A>G rs267607805
NM_000249.4(MLH1):c.95T>A (p.Ile32Asn) rs1575377175
NM_000249.4(MLH1):c.974_1000del (p.Arg325_Lys333del)
NM_000249.4(MLH1):c.977T>A (p.Val326Glu) rs63751049
NM_000249.4(MLH1):c.988_990del (p.Ile330del) rs63751197
NM_000251.1(MSH2):c.-68-1376_95del1539
NM_000251.1:c.(366+1_367-1)_(1076+1_1077-1)dup
NM_000251.1:c.1442_1443insALU
NM_000251.1:c.212-15_212-14insALU
NM_000251.3(MSH2):c.1003A>C (p.Thr335Pro)
NM_000251.3(MSH2):c.1003A>G (p.Thr335Ala)
NM_000251.3(MSH2):c.1013_1014delinsAT (p.Gly338Asp)
NM_000251.3(MSH2):c.1033_1034insTAT (p.Gln344_Trp345insLeu) rs587782374
NM_000251.3(MSH2):c.1044_1045delinsCT (p.Gln348_Pro349delinsHisSer)
NM_000251.3(MSH2):c.1046C>A (p.Pro349His)
NM_000251.3(MSH2):c.1067T>A (p.Ile356Lys) rs753075410
NM_000251.3(MSH2):c.1075A>G (p.Arg359Gly)
NM_000251.3(MSH2):c.1076+1G>C rs267607940
NM_000251.3(MSH2):c.1076+2T>C
NM_000251.3(MSH2):c.1076G>T (p.Arg359Ile) rs63751604
NM_000251.3(MSH2):c.108_159del (p.Phe37fs)
NM_000251.3(MSH2):c.1103_1138del (p.Glu368_Leu380delinsVal)
NM_000251.3(MSH2):c.1227_1238del (p.Gly410_Gln413del) rs1573485191
NM_000251.3(MSH2):c.1241T>C (p.Leu414Pro) rs587779078
NM_000251.3(MSH2):c.1270_1276+7del
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg) rs879254234
NM_000251.3(MSH2):c.1277-14C>G rs267607951
NM_000251.3(MSH2):c.1277-1G>C rs267607948
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del) rs587779082
NM_000251.3(MSH2):c.1319T>G (p.Leu440Arg) rs587779084
NM_000251.3(MSH2):c.1355A>T (p.Glu452Val) rs1553361274
NM_000251.3(MSH2):c.1361T>A (p.Ile454Lys)
NM_000251.3(MSH2):c.1380_1386+11del
NM_000251.3(MSH2):c.1386+1G>C rs267607957
NM_000251.3(MSH2):c.1386+2T>G
NM_000251.3(MSH2):c.1387-1G>A rs267607956
NM_000251.3(MSH2):c.1387-2012C>T
NM_000251.3(MSH2):c.1427_1510+38delinsATTTGATCCTAATC
NM_000251.3(MSH2):c.1433T>G (p.Leu478Arg)
NM_000251.3(MSH2):c.1498G>C (p.Ala500Pro) rs1666733944
NM_000251.3(MSH2):c.1510+1G>A rs1114167852
NM_000251.3(MSH2):c.1511-1G>T rs267607964
NM_000251.3(MSH2):c.1511-2A>C rs267607962
NM_000251.3(MSH2):c.1568T>C (p.Phe523Ser) rs587782587
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1659_1661+8del
NM_000251.3(MSH2):c.1660A>C (p.Ser554Arg) rs63751656
NM_000251.3(MSH2):c.1660A>G (p.Ser554Gly) rs63751656
NM_000251.3(MSH2):c.1660_1661+3del
NM_000251.3(MSH2):c.1661+2T>C rs1553366680
NM_000251.3(MSH2):c.1661+5G>C rs267607972
NM_000251.3(MSH2):c.1661G>T (p.Ser554Ile)
NM_000251.3(MSH2):c.1662-1G>T
NM_000251.3(MSH2):c.1662-2A>G rs267607971
NM_000251.3(MSH2):c.1667T>C (p.Leu556Ser) rs587779101
NM_000251.3(MSH2):c.1721A>C (p.Gln574Pro) rs1667078647
NM_000251.3(MSH2):c.1759+1G>T rs587779108
NM_000251.3(MSH2):c.1759+2T>C rs267607976
NM_000251.3(MSH2):c.1759G>A (p.Gly587Ser) rs63751140
NM_000251.3(MSH2):c.1760-2A>G rs1573566175
NM_000251.3(MSH2):c.1799C>A (p.Ala600Asp)
NM_000251.3(MSH2):c.1799C>T (p.Ala600Val) rs63751236
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro) rs1553368561
NM_000251.3(MSH2):c.1807G>T (p.Asp603Tyr)
NM_000251.3(MSH2):c.1808A>C (p.Asp603Ala) rs267607985
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly) rs267607985
NM_000251.3(MSH2):c.1812TGT[1] (p.Val606del) rs267607978
NM_000251.3(MSH2):c.1829A>C (p.His610Pro)
NM_000251.3(MSH2):c.182_211+1delinsC
NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr) rs63750280
NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln) rs28929483
NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg) rs28929483
NM_000251.3(MSH2):c.1871T>G (p.Ile624Ser) rs1114167870
NM_000251.3(MSH2):c.1890A>T (p.Gly630=)
NM_000251.3(MSH2):c.1998_2005+11del
NM_000251.3(MSH2):c.2005+1G>T rs267607986
NM_000251.3(MSH2):c.2005+2dup rs541623924
NM_000251.3(MSH2):c.2005+3_2005+14del rs587779125
NM_000251.3(MSH2):c.2006-1_2012del
NM_000251.3(MSH2):c.2006-3T>G rs1553368975
NM_000251.3(MSH2):c.2006-7_2022del rs2104367794
NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp) rs63751640
NM_000251.3(MSH2):c.2006_2007delinsTT (p.Gly669Val)
NM_000251.3(MSH2):c.2011A>T (p.Asn671Tyr) rs63751232
NM_000251.3(MSH2):c.2012A>T (p.Asn671Ile)
NM_000251.3(MSH2):c.2019_2021del (p.Gly674del)
NM_000251.3(MSH2):c.2020G>A (p.Gly674Ser) rs63750234
NM_000251.3(MSH2):c.2021G>T (p.Gly674Val)
NM_000251.3(MSH2):c.2023A>G (p.Lys675Glu) rs1060501990
NM_000251.3(MSH2):c.2026T>C (p.Ser676Pro) rs63751089
NM_000251.3(MSH2):c.203_211+9delinsTGCCCGCG
NM_000251.3(MSH2):c.2042A>C (p.Gln681Pro) rs1667302018
NM_000251.3(MSH2):c.2060T>G (p.Leu687Arg)
NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro) rs914610419
NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp) rs1060502020
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.3(MSH2):c.2079T>G (p.Cys693Trp)
NM_000251.3(MSH2):c.207_211+42del rs1553348901
NM_000251.3(MSH2):c.2080T>A (p.Phe694Ile) rs63751409
NM_000251.3(MSH2):c.2083G>A (p.Val695Met) rs772491283
NM_000251.3(MSH2):c.2091T>G (p.Cys697Trp)
NM_000251.3(MSH2):c.2099C>A (p.Ala700Glu) rs876658251
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu) rs587779137
NM_000251.3(MSH2):c.211+1G>A
NM_000251.3(MSH2):c.212-2A>G rs267607917
NM_000251.3(MSH2):c.2132G>C (p.Arg711Pro) rs138465383
NM_000251.3(MSH2):c.2210+1G>T rs267608002
NM_000251.3(MSH2):c.2210_2210+1delinsTA rs1114167890
NM_000251.3(MSH2):c.2211-10T>A rs267608006
NM_000251.3(MSH2):c.2211-1G>A rs267607979
NM_000251.3(MSH2):c.2211-1G>C rs267607979
NM_000251.3(MSH2):c.2211-2A>G rs267608001
NM_000251.3(MSH2):c.2211-3_2211-2delinsG
NM_000251.3(MSH2):c.2232AAT[1] (p.Ile747del) rs267607690
NM_000251.3(MSH2):c.2242G>C (p.Asp748His) rs267608007
NM_000251.3(MSH2):c.2242G>T (p.Asp748Tyr) rs267608007
NM_000251.3(MSH2):c.2245G>A (p.Glu749Lys) rs63751477
NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg) rs1060502038
NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg) rs1060502038
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val) rs775464903
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg) rs1558521929
NM_000251.3(MSH2):c.2399T>C (p.Leu800Pro)
NM_000251.3(MSH2):c.2402A>C (p.His801Pro) rs1114167875
NM_000251.3(MSH2):c.2458+1G>C
NM_000251.3(MSH2):c.2458+976A>G rs2104420229
NM_000251.3(MSH2):c.2458+985A>G
NM_000251.3(MSH2):c.2459-11A>G
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2459-1G>C rs1060501991
NM_000251.3(MSH2):c.2459-2A>T
NM_000251.3(MSH2):c.2459-5_2460del
NM_000251.3(MSH2):c.2459-954A>G rs2104421991
NM_000251.3(MSH2):c.2520_2524delinsGCTAAAC (p.Ile841fs)
NM_000251.3(MSH2):c.2635-12C>G rs1436357692
NM_000251.3(MSH2):c.2635-1G>T rs267608020
NM_000251.3(MSH2):c.2635-24A>G rs1667575488
NM_000251.3(MSH2):c.2635-2A>C rs1114167818
NM_000251.3(MSH2):c.2635-2A>T rs1114167818
NM_000251.3(MSH2):c.2641G>T (p.Glu881Ter)
NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter) rs1230083633
NM_000251.3(MSH2):c.2740del (p.Glu914fs) rs1573582750
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.366+1G>T rs267607924
NM_000251.3(MSH2):c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
NM_000251.3(MSH2):c.366+1dup
NM_000251.3(MSH2):c.366+2T>C rs1558457533
NM_000251.3(MSH2):c.366+2T>G
NM_000251.3(MSH2):c.366+2_366+5delinsCA
NM_000251.3(MSH2):c.367-1G>A rs267607925
NM_000251.3(MSH2):c.445G>C (p.Gly149Arg)
NM_000251.3(MSH2):c.488T>A (p.Val163Asp) rs63750214
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro) rs63751291
NM_000251.3(MSH2):c.560T>A (p.Leu187His)
NM_000251.3(MSH2):c.569T>C (p.Leu190Pro) rs1114167878
NM_000251.3(MSH2):c.572T>G (p.Leu191Arg)
NM_000251.3(MSH2):c.592G>A (p.Glu198Lys) rs587779166
NM_000251.3(MSH2):c.593A>C (p.Glu198Ala)
NM_000251.3(MSH2):c.596G>A (p.Cys199Tyr) rs63751136
NM_000251.3(MSH2):c.597T>G (p.Cys199Trp) rs1573441776
NM_000251.3(MSH2):c.599T>A (p.Val200Asp) rs587779167
NM_000251.3(MSH2):c.645+2T>C rs876658996
NM_000251.3(MSH2):c.645+2dup
NM_000251.3(MSH2):c.646-19_661del
NM_000251.3(MSH2):c.646-2A>C rs587779169
NM_000251.3(MSH2):c.646-2A>T rs587779169
NM_000251.3(MSH2):c.646-3_654del rs267607929
NM_000251.3(MSH2):c.646-6_727del
NM_000251.3(MSH2):c.792+1G>C rs267607934
NM_000251.3(MSH2):c.792+2T>A
NM_000251.3(MSH2):c.792+2T>C rs587782408
NM_000251.3(MSH2):c.793-1G>C
NM_000251.3(MSH2):c.793-1G>T
NM_000251.3(MSH2):c.793-2A>G rs267607933
NM_000251.3(MSH2):c.806C>T (p.Ser269Leu) rs63750058
NM_000251.3(MSH2):c.942+3A>C rs193922376
NM_000251.3(MSH2):c.942+3A>G rs193922376
NM_000251.3(MSH2):c.942+3_942+4delinsGT
NM_000251.3(MSH2):c.942G>T (p.Gln314His) rs587779197
NM_000251.3(MSH2):c.943-10_943-2del
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe) rs63750828
NM_000264.5(PTCH1):c.1068-1G>T rs1085307752
NM_000264.5(PTCH1):c.1216-1G>A rs1564051834
NM_000264.5(PTCH1):c.1348-1G>T
NM_000264.5(PTCH1):c.1462T>C (p.Cys488Arg) rs1131690999
NM_000264.5(PTCH1):c.1503+2T>A
NM_000264.5(PTCH1):c.1511C>T (p.Pro504Leu)
NM_000264.5(PTCH1):c.201+1G>A rs1131690967
NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup) rs1588568813
NM_000264.5(PTCH1):c.2465T>C (p.Leu822Pro)
NM_000264.5(PTCH1):c.271G>C (p.Gly91Arg)
NM_000264.5(PTCH1):c.2789_2796delinsG (p.Asp930fs)
NM_000264.5(PTCH1):c.3168+3G>C
NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg) rs1588528637
NM_000264.5(PTCH1):c.3398_3400del (p.Thr1133_Leu1134delinsMet)
NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro) rs1131690989
NM_000264.5(PTCH1):c.3440T>C (p.Phe1147Ser) rs1131690990
NM_000264.5(PTCH1):c.3450-11T>A
NM_000264.5(PTCH1):c.3499G>A (p.Gly1167Arg) rs1131690985
NM_000264.5(PTCH1):c.385T>C (p.Trp129Arg) rs2118873547
NM_000264.5(PTCH1):c.584G>C (p.Arg195Thr) rs1554702009
NM_000264.5(PTCH1):c.945+5G>A rs1588609575
NM_000268.4(NF2):c.12_22delinsTTCA (p.Ile5fs)
NM_000268.4(NF2):c.1447-1G>T
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000268.4(NF2):c.240+1G>C rs587776562
NM_000268.4(NF2):c.240G>A (p.Lys80=) rs1555986950
NM_000268.4(NF2):c.363+2T>C rs2146873271
NM_000268.4(NF2):c.448-1G>T
NM_000268.4(NF2):c.599+1G>T rs1555993352
NM_000268.4(NF2):c.810+1G>A rs794728682
NM_000314.4:c.(164+1_165-1)_(634+1_635-1)dup
NM_000314.4:c.545_546insALU
NM_000314.8(PTEN):c.1000_1003dup (p.Arg335fs)
NM_000314.8(PTEN):c.1004_1008del (p.Arg335fs)
NM_000314.8(PTEN):c.1026+1del rs398123313
NM_000314.8(PTEN):c.1027-1852A>G
NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro) rs1554826024
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.104T>C (p.Met35Thr) rs121909225
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg) rs786204854
NM_000314.8(PTEN):c.1103del (p.Asp368fs)
NM_000314.8(PTEN):c.1127_1128insAT (p.His376fs) rs1554826052
NM_000314.8(PTEN):c.1137T>G (p.Tyr379Ter) rs1295420243
NM_000314.8(PTEN):c.1211G>C (p.Ter404Ser)
NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.8(PTEN):c.157GTA[1] (p.Val54del) rs1554893831
NM_000314.8(PTEN):c.165-1G>C rs786203847
NM_000314.8(PTEN):c.170T>C (p.Leu57Ser)
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.203A>C (p.Tyr68Ser) rs876660634
NM_000314.8(PTEN):c.209+2047A>G
NM_000314.8(PTEN):c.209+2T>G rs878853937
NM_000314.8(PTEN):c.209+4A>G rs2132232446
NM_000314.8(PTEN):c.210-12C>G
NM_000314.8(PTEN):c.210-1G>C rs1114167621
NM_000314.8(PTEN):c.210-1G>T rs1114167621
NM_000314.8(PTEN):c.210-2A>C rs1564828914
NM_000314.8(PTEN):c.210-2A>G rs1564828914
NM_000314.8(PTEN):c.253+5_253+13del
NM_000314.8(PTEN):c.275A>C (p.Asp92Ala) rs1114167623
NM_000314.8(PTEN):c.275A>G (p.Asp92Gly) rs1114167623
NM_000314.8(PTEN):c.275A>T (p.Asp92Val)
NM_000314.8(PTEN):c.277C>T (p.His93Tyr) rs786204927
NM_000314.8(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.8(PTEN):c.283C>A (p.Pro95Thr) rs1114167630
NM_000314.8(PTEN):c.283C>G (p.Pro95Ala)
NM_000314.8(PTEN):c.287C>T (p.Pro96Leu) rs1554898074
NM_000314.8(PTEN):c.293T>G (p.Leu98Arg) rs781647403
NM_000314.8(PTEN):c.302T>A (p.Ile101Asn) rs1339631701
NM_000314.8(PTEN):c.313T>G (p.Cys105Gly)
NM_000314.8(PTEN):c.320A>G (p.Asp107Gly) rs786204858
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.8(PTEN):c.334C>G (p.Leu112Val) rs2132242699
NM_000314.8(PTEN):c.335T>A (p.Leu112Gln)
NM_000314.8(PTEN):c.353A>C (p.His118Pro)
NM_000314.8(PTEN):c.355G>C (p.Val119Leu) rs139767111
NM_000314.8(PTEN):c.355G>T (p.Val119Phe) rs139767111
NM_000314.8(PTEN):c.359C>A (p.Ala120Glu) rs1114167647
NM_000314.8(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.8(PTEN):c.370T>A (p.Cys124Ser) rs121909223
NM_000314.8(PTEN):c.370T>G (p.Cys124Gly) rs121909223
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.8(PTEN):c.371G>C (p.Cys124Ser)
NM_000314.8(PTEN):c.377C>T (p.Ala126Val) rs1114167656
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg) rs587781255
NM_000314.8(PTEN):c.380G>A (p.Gly127Glu) rs398123322
NM_000314.8(PTEN):c.382A>G (p.Lys128Glu) rs1554898138
NM_000314.8(PTEN):c.384G>C (p.Lys128Asn) rs1114167645
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.8(PTEN):c.39_41del (p.Arg15del) rs1114167625
NM_000314.8(PTEN):c.402G>T (p.Met134Ile) rs1114167676
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.8(PTEN):c.405A>G (p.Ile135Met)
NM_000314.8(PTEN):c.408T>G (p.Cys136Trp) rs869312776
NM_000314.8(PTEN):c.422A>C (p.His141Pro) rs863224666
NM_000314.8(PTEN):c.45A>C (p.Arg15Ser) rs1064794096
NM_000314.8(PTEN):c.463T>A (p.Tyr155Asn) rs398123325
NM_000314.8(PTEN):c.46T>C (p.Tyr16His) rs1064796078
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.8(PTEN):c.476G>T (p.Arg159Met) rs1114167673
NM_000314.8(PTEN):c.492+1G>A rs1554898242
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.493-2A>C rs587781784
NM_000314.8(PTEN):c.493-2A>T rs587781784
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.497T>A (p.Val166Glu) rs1554900515
NM_000314.8(PTEN):c.511C>G (p.Gln171Glu) rs786204864
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) rs786204865
NM_000314.8(PTEN):c.518G>C (p.Arg173Pro) rs121913294
NM_000314.8(PTEN):c.518G>T (p.Arg173Leu) rs121913294
NM_000314.8(PTEN):c.529T>G (p.Tyr177Asp) rs1860418425
NM_000314.8(PTEN):c.530A>G (p.Tyr177Cys) rs1564837839
NM_000314.8(PTEN):c.584T>C (p.Phe195Ser)
NM_000314.8(PTEN):c.598T>G (p.Phe200Val) rs587782473
NM_000314.8(PTEN):c.634+2_634+3insC rs1554900673
NM_000314.8(PTEN):c.634+3_634+6del rs1589659775
NM_000314.8(PTEN):c.634+5G>C rs138336847
NM_000314.8(PTEN):c.635-1G>T rs876661024
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.69_74del (p.22DL[1])
NM_000314.8(PTEN):c.70G>A (p.Asp24Asn) rs786201995
NM_000314.8(PTEN):c.711_722del (p.Lys237_Phe241delinsAsn)
NM_000314.8(PTEN):c.723T>G (p.Phe241Leu) rs17849090
NM_000314.8(PTEN):c.738_743del (p.Leu247_Pro248del) rs1114167666
NM_000314.8(PTEN):c.752G>T (p.Gly251Val) rs1554825226
NM_000314.8(PTEN):c.752_753delinsTG (p.Gly251Val) rs1114167664
NM_000314.8(PTEN):c.755A>T (p.Asp252Val) rs121909239
NM_000314.8(PTEN):c.761A>C (p.Lys254Thr) rs1114167633
NM_000314.8(PTEN):c.764T>A (p.Val255Glu) rs1564566998
NM_000314.8(PTEN):c.80-2A>C rs2132187034
NM_000314.8(PTEN):c.80-5_82del rs1589617114
NM_000314.8(PTEN):c.802-1G>A rs1257124719
NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.8(PTEN):c.815A>C (p.His272Pro) rs1114167648
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.8(PTEN):c.929A>G (p.Asp310Gly) rs1564568473
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
NM_000314.8(PTEN):c.959T>C (p.Leu320Ser) rs1114167667
NM_000321.3(RB1):c.1049+1G>A rs587776782
NM_000321.3(RB1):c.1049+1G>T rs587776782
NM_000321.3(RB1):c.138-1G>A rs1593414337
NM_000321.3(RB1):c.1389+4A>C rs1131690879
NM_000321.3(RB1):c.1421+1G>C rs1131690886
NM_000321.3(RB1):c.1421G>T (p.Ser474Ile) rs1555286575
NM_000321.3(RB1):c.1466G>A (p.Cys489Tyr) rs1131690877
NM_000321.3(RB1):c.1498+1G>A rs1131690909
NM_000321.3(RB1):c.1498+2T>G rs1948523741
NM_000321.3(RB1):c.1696-2A>G rs1593529868
NM_000321.3(RB1):c.2107-1G>A rs587778860
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2143A>T (p.Lys715Ter)
NM_000321.3(RB1):c.2325+1G>C rs1131690882
NM_000321.3(RB1):c.2489G>A (p.Arg830Lys)
NM_000321.3(RB1):c.2490-28T>G
NM_000321.3(RB1):c.2520+5G>A rs1131690881
NM_000321.3(RB1):c.380G>A (p.Ser127Asn) rs1131690843
NM_000321.3(RB1):c.380G>C (p.Ser127Thr) rs1131690843
NM_000321.3(RB1):c.539+1G>A rs1566187856
NM_000321.3(RB1):c.607+2dup rs1131690895
NM_000321.3(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000321.3(RB1):c.861+2T>C
NM_000368.5(TSC1):c.1029+3A>G rs1554817334
NM_000368.5(TSC1):c.1263+37C>T
NM_000368.5(TSC1):c.1997+2T>G rs2131806725
NM_000368.5(TSC1):c.210+1G>C
NM_000368.5(TSC1):c.2626-2A>C rs118203717
NM_000368.5(TSC1):c.2813+1G>C
NM_000368.5(TSC1):c.35_69del (p.Ala12fs)
NM_000368.5(TSC1):c.363G>T (p.Lys121Asn) rs118203370
NM_000368.5(TSC1):c.508G>A (p.Gly170Ser)
NM_000368.5(TSC1):c.659T>A (p.Val220Asp)
NM_000368.5(TSC1):c.737+1G>T rs118203438
NM_000368.5(TSC1):c.737+2T>C rs1564497308
NM_000368.5(TSC1):c.913+2T>C
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg) rs118203468
NM_000455.5(STK11):c.151_162del (p.Met51_Leu54del) rs1131690916
NM_000455.5(STK11):c.155_157del (p.Gly52del) rs1131690917
NM_000455.5(STK11):c.159_170del (p.Asp53_Gly56del) rs1131690953
NM_000455.5(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.5(STK11):c.290+2T>A
NM_000455.5(STK11):c.290+2_290+4del rs1568690546
NM_000455.5(STK11):c.375-7_375-6del rs2080765043
NM_000455.5(STK11):c.460C>G (p.His154Asp) rs878853988
NM_000455.5(STK11):c.464+1G>C
NM_000455.5(STK11):c.465-21_465del
NM_000455.5(STK11):c.465-2A>C rs1131690931
NM_000455.5(STK11):c.487G>C (p.Gly163Arg) rs730881972
NM_000455.5(STK11):c.536C>A (p.Pro179Gln)
NM_000455.5(STK11):c.541_543delinsGAA (p.Asn181Glu) rs1568707668
NM_000455.5(STK11):c.582C>A (p.Asp194Glu) rs786202134
NM_000455.5(STK11):c.586G>C (p.Gly196Arg)
NM_000455.5(STK11):c.597+1G>T rs886039554
NM_000455.5(STK11):c.709G>C (p.Asp237His) rs878853247
NM_000455.5(STK11):c.711C>A (p.Asp237Glu) rs1057520379
NM_000455.5(STK11):c.719C>G (p.Ser240Trp) rs730881976
NM_000455.5(STK11):c.725G>A (p.Gly242Glu) rs1568708382
NM_000455.5(STK11):c.734+2T>C rs1131690941
NM_000455.5(STK11):c.734_734+2dup
NM_000455.5(STK11):c.737ACA[1] (p.Asn247del)
NM_000455.5(STK11):c.854T>C (p.Leu285Pro) rs1555738724
NM_000455.5(STK11):c.863-2A>G rs1131690944
NM_000455.5(STK11):c.890_907del (p.Arg297_Gln302del) rs1131690935
NM_000455.5(STK11):c.914A>C (p.Gln305Pro)
NM_000455.5(STK11):c.920+2_920+31del
NM_000465.2:c.1764_1765insALU
NM_000465.2:c.1776_1777insL1
NM_000465.4(BARD1):c.1306_1314+7del rs1694934695
NM_000465.4(BARD1):c.1314+1G>A rs753785671
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
NM_000465.4(BARD1):c.1395+1dup rs1553619688
NM_000465.4(BARD1):c.1396-1G>A rs2106077292
NM_000465.4(BARD1):c.1568+1G>T
NM_000465.4(BARD1):c.1568+2T>C rs1553619196
NM_000465.4(BARD1):c.1568+2dup
NM_000465.4(BARD1):c.1569-1G>A rs1574756672
NM_000465.4(BARD1):c.1569-2A>G rs1693509336
NM_000465.4(BARD1):c.158+1G>C rs1553628351
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1676_1677+2del
NM_000465.4(BARD1):c.1677+1G>A
NM_000465.4(BARD1):c.1677+2T>A
NM_000465.4(BARD1):c.1678-1_1678del rs1553615184
NM_000465.4(BARD1):c.1678-2A>G rs1693089850
NM_000465.4(BARD1):c.1678-3C>G rs1693089932
NM_000465.4(BARD1):c.1810+1G>A rs876659894
NM_000465.4(BARD1):c.1810+2T>G rs1234033325
NM_000465.4(BARD1):c.1903+1G>A rs876660237
NM_000465.4(BARD1):c.1903+1G>T rs876660237
NM_000465.4(BARD1):c.1903+2T>A rs1574737047
NM_000465.4(BARD1):c.1904-2A>T rs864622239
NM_000465.4(BARD1):c.1904-2del rs876659560
NM_000465.4(BARD1):c.1934_2001+52del rs1574706516
NM_000465.4(BARD1):c.1961del (p.Pro654fs)
NM_000465.4(BARD1):c.2001+1G>C rs768490891
NM_000465.4(BARD1):c.2001+2T>C
NM_000465.4(BARD1):c.2002-15_2003del
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter) rs1328046615
NM_000465.4(BARD1):c.2038_2042del (p.Trp680fs) rs1553612222
NM_000465.4(BARD1):c.2065dup (p.Asp689fs)
NM_000465.4(BARD1):c.2099dup (p.Gln701fs)
NM_000465.4(BARD1):c.2101C>T (p.Gln701Ter) rs587782348
NM_000465.4(BARD1):c.2116A>T (p.Lys706Ter)
NM_000465.4(BARD1):c.2129_2132del (p.Asp710fs) rs1692216921
NM_000465.4(BARD1):c.2144dup (p.Thr716fs) rs1574703115
NM_000465.4(BARD1):c.215+1G>A rs2106145519
NM_000465.4(BARD1):c.215+2T>C rs1559441760
NM_000465.4(BARD1):c.215+5_215+8del rs876658777
NM_000465.4(BARD1):c.216-1G>A rs876658905
NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter)
NM_000465.4(BARD1):c.2188C>T (p.Gln730Ter)
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter) rs2105986813
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs)
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter) rs1259296823
NM_000465.4(BARD1):c.2261_2262del (p.Lys754fs) rs1574702099
NM_000465.4(BARD1):c.2267G>A (p.Trp756Ter) rs1358155595
NM_000465.4(BARD1):c.2268G>A (p.Trp756Ter) rs786202118
NM_000465.4(BARD1):c.2291_2294del (p.Ile764fs)
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000465.4(BARD1):c.2301_2303delinsACATC (p.Met768fs)
NM_000465.4(BARD1):c.364+1G>A rs2106134408
NM_000465.4(BARD1):c.365-1G>T rs1559426428
NM_000535.5:c.1274_1275insALU
NM_000535.5:c.804-64_804-63insSVA
NM_000535.7(PMS2):c.1144+1G>C rs373885654
NM_000535.7(PMS2):c.1144+1del rs2128746842
NM_000535.7(PMS2):c.1145-2A>G rs1325835006
NM_000535.7(PMS2):c.125TAG[1] (p.Val43del) rs1064794820
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.163+2T>A
NM_000535.7(PMS2):c.163+2T>C rs587779329
NM_000535.7(PMS2):c.163+2dup
NM_000535.7(PMS2):c.19_23+26delinsCC
NM_000535.7(PMS2):c.2006+1G>A rs1554297040
NM_000535.7(PMS2):c.2006_2006+4del rs771928911
NM_000535.7(PMS2):c.2007-1G>A rs267608170
NM_000535.7(PMS2):c.2007-1G>C
NM_000535.7(PMS2):c.2007-4_2007-2delinsACG
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.209A>T (p.Asp70Val)
NM_000535.7(PMS2):c.2101C>T (p.His701Tyr) rs763866879
NM_000535.7(PMS2):c.2102A>G (p.His701Arg) rs1583298873
NM_000535.7(PMS2):c.2174+1G>T
NM_000535.7(PMS2):c.2174+2del
NM_000535.7(PMS2):c.2175-1G>A
NM_000535.7(PMS2):c.2175-2A>G
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2275+1G>C rs1554294393
NM_000535.7(PMS2):c.2275+2T>C rs1562604682
NM_000535.7(PMS2):c.23+1G>C rs587782074
NM_000535.7(PMS2):c.23+2T>A
NM_000535.7(PMS2):c.24-2A>G rs1583419860
NM_000535.7(PMS2):c.2438_2442del (p.Arg813fs)
NM_000535.7(PMS2):c.2445+1G>A rs876661113
NM_000535.7(PMS2):c.2446-1G>T rs774583397
NM_000535.7(PMS2):c.2446-2A>G rs886039709
NM_000535.7(PMS2):c.250+1G>C
NM_000535.7(PMS2):c.250+2T>G
NM_000535.7(PMS2):c.251-11CT[2]
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_000535.7(PMS2):c.2534A>G (p.His845Arg) rs1554292741
NM_000535.7(PMS2):c.2534A>T (p.His845Leu) rs1554292741
NM_000535.7(PMS2):c.2555del (p.His852fs)
NM_000535.7(PMS2):c.2556_2557del (p.Ile853fs)
NM_000535.7(PMS2):c.353+2T>C rs111466480
NM_000535.7(PMS2):c.537+1G>A rs863224450
NM_000535.7(PMS2):c.538-1G>A rs988423880
NM_000535.7(PMS2):c.705+1G>C rs267608147
NM_000535.7(PMS2):c.705+1G>T rs267608147
NM_000535.7(PMS2):c.705+1del
NM_000535.7(PMS2):c.705+2T>C rs1784783734
NM_000535.7(PMS2):c.706-1G>A rs1202370194
NM_000535.7(PMS2):c.706-1G>C
NM_000535.7(PMS2):c.706-1G>T
NM_000535.7(PMS2):c.706-2A>C rs745487791
NM_000535.7(PMS2):c.798_803+15delinsGTAGTTCT
NM_000535.7(PMS2):c.803+1G>T rs1562669585
NM_000535.7(PMS2):c.803+5G>A rs939641251
NM_000535.7(PMS2):c.804-10T>G rs267608151
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.804-1G>C
NM_000535.7(PMS2):c.811G>C (p.Gly271Arg)
NM_000535.7(PMS2):c.812G>A (p.Gly271Asp) rs1583364867
NM_000535.7(PMS2):c.815del (p.Phe272fs)
NM_000535.7(PMS2):c.899_903+5delinsTAACAC
NM_000535.7(PMS2):c.902dup (p.Val302fs) rs1784291698
NM_000535.7(PMS2):c.903+1G>A rs1554300689
NM_000535.7(PMS2):c.903+1G>T rs1554300689
NM_000535.7(PMS2):c.903+2T>A
NM_000535.7(PMS2):c.903+2T>C rs878854059
NM_000535.7(PMS2):c.904-1G>T
NM_000535.7(PMS2):c.904-2A>C rs587781339
NM_000535.7(PMS2):c.988+1G>T rs757110564
NM_000535.7(PMS2):c.988+1del rs876660075
NM_000535.7(PMS2):c.988+2T>C
NM_000546.6(TP53):c.-29+1G>C rs2151082372
NM_000546.6(TP53):c.1000G>T (p.Gly334Trp) rs730882028
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro) rs121912664
NM_000546.6(TP53):c.1010G>T (p.Arg337Leu) rs121912664
NM_000546.6(TP53):c.1021_1022delinsAG (p.Phe341Ser)
NM_000546.6(TP53):c.1039G>A (p.Ala347Thr) rs1597349147
NM_000546.6(TP53):c.1101-1G>A rs876658982
NM_000546.6(TP53):c.1101-2A>G rs587781664
NM_000546.6(TP53):c.283_375+21del rs1555526462
NM_000546.6(TP53):c.313G>A (p.Gly105Ser) rs1060501195
NM_000546.6(TP53):c.313G>C (p.Gly105Arg) rs1060501195
NM_000546.6(TP53):c.328_339del (p.Arg110_Phe113del) rs587782490
NM_000546.6(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.6(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.6(TP53):c.375+1G>A rs1567555445
NM_000546.6(TP53):c.375+1G>T rs1567555445
NM_000546.6(TP53):c.375+2T>A rs1555526469
NM_000546.6(TP53):c.375+2T>G rs1555526469
NM_000546.6(TP53):c.376-2A>G rs786202799
NM_000546.6(TP53):c.376-2A>T rs786202799
NM_000546.6(TP53):c.376-2_377dup
NM_000546.6(TP53):c.376T>C (p.Tyr126His)
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.401T>G (p.Phe134Cys) rs780442292
NM_000546.6(TP53):c.402T>A (p.Phe134Leu) rs1555526278
NM_000546.6(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.6(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_000546.6(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_000546.6(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.6(TP53):c.434T>C (p.Leu145Pro) rs587782197
NM_000546.6(TP53):c.451_452delinsTT (p.Pro151Phe) rs1597370899
NM_000546.6(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.6(TP53):c.455C>G (p.Pro152Arg) rs587782705
NM_000546.6(TP53):c.466C>G (p.Arg156Gly) rs563378859
NM_000546.6(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.6(TP53):c.473_474delinsTT (p.Arg158Leu) rs1567553501
NM_000546.6(TP53):c.485T>A (p.Ile162Asn) rs587780069
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.6(TP53):c.487T>G (p.Tyr163Asp) rs786203436
NM_000546.6(TP53):c.509_520del (p.Thr170_Val173del) rs2151030744
NM_000546.6(TP53):c.515T>A (p.Val172Asp) rs1131691021
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.532C>G (p.His178Asp) rs1064795203
NM_000546.6(TP53):c.534C>A (p.His178Gln) rs1555526001
NM_000546.6(TP53):c.534C>G (p.His178Gln) rs1555526001
NM_000546.6(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.541_559+1del
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.559+2_559+3delinsGT rs1597369390
NM_000546.6(TP53):c.559G>C (p.Gly187Arg) rs776167460
NM_000546.6(TP53):c.569C>G (p.Pro190Arg) rs876660825
NM_000546.6(TP53):c.569C>T (p.Pro190Leu) rs876660825
NM_000546.6(TP53):c.569CTC[1] (p.Pro191del) rs1555525902
NM_000546.6(TP53):c.579T>A (p.His193Gln) rs1597368777
NM_000546.6(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.653T>A (p.Val218Glu)
NM_000546.6(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.6(TP53):c.657_665del (p.Tyr220_Pro222del) rs876658144
NM_000546.6(TP53):c.672+1G>A rs863224499
NM_000546.6(TP53):c.673-1G>C rs878854073
NM_000546.6(TP53):c.673-2A>T rs1555525585
NM_000546.6(TP53):c.695T>C (p.Ile232Thr) rs587781589
NM_000546.6(TP53):c.698ACTACA[1] (p.Asn235_Tyr236del) rs794727846
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser) rs587780073
NM_000546.6(TP53):c.709A>G (p.Met237Val) rs730882004
NM_000546.6(TP53):c.711G>T (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.714T>G (p.Cys238Trp) rs193920789
NM_000546.6(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_000546.6(TP53):c.716_736del (p.Asn239_Gly245del) rs876659260
NM_000546.6(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.6(TP53):c.718A>C (p.Ser240Arg) rs1567549584
NM_000546.6(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.6(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_000546.6(TP53):c.736A>C (p.Met246Leu) rs483352695
NM_000546.6(TP53):c.737T>A (p.Met246Lys) rs587780074
NM_000546.6(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_000546.6(TP53):c.738G>A (p.Met246Ile) rs1019340046
NM_000546.6(TP53):c.738G>C (p.Met246Ile)
NM_000546.6(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.75-2A>G rs1131691020
NM_000546.6(TP53):c.751A>C (p.Ile251Leu) rs730882007
NM_000546.6(TP53):c.754_762del (p.Leu252_Ile254del) rs2073243450
NM_000546.6(TP53):c.761TCA[1] (p.Ile255del) rs1064794309
NM_000546.6(TP53):c.763A>T (p.Ile255Phe) rs1057519995
NM_000546.6(TP53):c.770T>C (p.Leu257Pro) rs28934577
NM_000546.6(TP53):c.770T>G (p.Leu257Arg) rs28934577
NM_000546.6(TP53):c.781_782+8del
NM_000546.6(TP53):c.782+2T>A
NM_000546.6(TP53):c.782+2T>G rs876659076
NM_000546.6(TP53):c.783-2A>T rs1060501207
NM_000546.6(TP53):c.783-4_792del
NM_000546.6(TP53):c.794T>A (p.Leu265Gln) rs879253942
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.821T>C (p.Val274Ala) rs1057520006
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.825T>G (p.Cys275Trp) rs1555525279
NM_000546.6(TP53):c.829T>C (p.Cys277Arg) rs1064795369
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.830G>T (p.Cys277Phe) rs763098116
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.838_846del (p.Asp281_Arg283del) rs1555525215
NM_000546.6(TP53):c.838_848delinsCA (p.Arg280_Arg283delinsHis) rs587781564
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.6(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.848G>C (p.Arg283Pro) rs371409680
NM_000546.6(TP53):c.850A>C (p.Thr284Pro)
NM_000546.6(TP53):c.917_919+10del rs1555525040
NM_000546.6(TP53):c.919+1G>C rs1131691039
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000546.6(TP53):c.920-2A>T
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000546.6(TP53):c.96+2T>G
NM_000546.6(TP53):c.96+2dup rs1131691015
NM_000546.6(TP53):c.987_993+2delinsTA
NM_000546.6(TP53):c.993+1G>A rs11575997
NM_000546.6(TP53):c.993+1G>C rs11575997
NM_000546.6(TP53):c.993+2T>G rs1597359053
NM_000546.6(TP53):c.993G>A (p.Gln331=) rs11575996
NM_000546.6(TP53):c.995T>A (p.Ile332Asn)
NM_000548.5(TSC2):c.1172T>A (p.Val391Glu)
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val) rs45517177
NM_000548.5(TSC2):c.1717-1G>C
NM_000548.5(TSC2):c.1717-3C>A
NM_000548.5(TSC2):c.1724T>G (p.Leu575Arg)
NM_000548.5(TSC2):c.1871A>C (p.Asp624Ala) rs2151296839
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp) rs1057520642
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr) rs45486196
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro) rs397514919
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn) rs1555510754
NM_000548.5(TSC2):c.3814+2T>G
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg) rs45517369
NM_000548.5(TSC2):c.4898_4915del (p.His1633_Lys1638del)
NM_000548.5(TSC2):c.4919A>G (p.His1640Arg) rs794727602
NM_000548.5(TSC2):c.5017G>T (p.Val1673Phe) rs45490993
NM_000548.5(TSC2):c.5045T>C (p.Leu1682Pro)
NM_000548.5(TSC2):c.5068+2T>C rs397515152
NM_000548.5(TSC2):c.5069-3_5069-2del rs1114167460
NM_000548.5(TSC2):c.5123T>C (p.Leu1708Pro) rs397515274
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.599+2T>C
NM_000548.5(TSC2):c.707T>C (p.Leu236Pro) rs1596278377
NM_000548.5(TSC2):c.775-2A>G
NM_000548.5(TSC2):c.839T>C (p.Met280Thr)
NM_000548.5(TSC2):c.848+2T>A
NM_000551.4(VHL):c.188T>G (p.Leu63Arg)
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.214T>C (p.Ser72Pro) rs869025618
NM_000551.4(VHL):c.226T>A (p.Phe76Ile) rs1559425911
NM_000551.4(VHL):c.226T>C (p.Phe76Leu)
NM_000551.4(VHL):c.232A>T (p.Asn78Tyr) rs869025621
NM_000551.4(VHL):c.236G>C (p.Arg79Pro)
NM_000551.4(VHL):c.238A>G (p.Ser80Gly) rs786202787
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.4(VHL):c.251T>A (p.Val84Glu)
NM_000551.4(VHL):c.263_265dup (p.Trp88_Leu89insArg) rs1131690960
NM_000551.4(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.4(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.4(VHL):c.269A>T (p.Asn90Ile) rs143985153
NM_000551.4(VHL):c.277G>C (p.Gly93Arg) rs5030808
NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val) rs1559426072
NM_000551.4(VHL):c.287A>C (p.Gln96Pro) rs1559426089
NM_000551.4(VHL):c.291_296del (p.Tyr98_Pro99del) rs1575922271
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.4(VHL):c.302T>A (p.Leu101Gln)
NM_000551.4(VHL):c.302T>C (p.Leu101Pro) rs1553619456
NM_000551.4(VHL):c.302T>G (p.Leu101Arg)
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.4(VHL):c.335_340+5del rs869025632
NM_000551.4(VHL):c.341-3T>G rs1131690965
NM_000551.4(VHL):c.344A>C (p.His115Pro) rs5030812
NM_000551.4(VHL):c.357C>A (p.Phe119Leu)
NM_000551.4(VHL):c.365C>T (p.Ala122Val) rs1696261924
NM_000551.4(VHL):c.395A>C (p.Gln132Pro) rs1347416980
NM_000551.4(VHL):c.397A>C (p.Thr133Pro) rs1131690961
NM_000551.4(VHL):c.402_428del (p.Glu134_Val142del)
NM_000551.4(VHL):c.460C>T (p.Pro154Ser) rs1553619993
NM_000551.4(VHL):c.463+3A>C rs1131690954
NM_000551.4(VHL):c.463G>T (p.Val155Leu) rs869025659
NM_000551.4(VHL):c.475A>G (p.Lys159Glu) rs1575932011
NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr) rs397516444
NM_000551.4(VHL):c.487C>T (p.Leu163Phe) rs1553620318
NM_000551.4(VHL):c.488T>C (p.Leu163Pro) rs28940297
NM_000551.4(VHL):c.492G>T (p.Gln164His) rs1352275281
NM_000551.4(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.4(VHL):c.506T>C (p.Leu169Pro) rs1131690962
NM_000551.4(VHL):c.506del (p.Leu169fs)
NM_000551.4(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.4(VHL):c.581T>G (p.Val194Gly) rs1131690963
NM_000551.4(VHL):c.588del (p.Asp197fs)
NM_000551.4(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.4(VHL):c.607_608del (p.Gln203fs)
NM_001042492.3(NF1):c.1063-13G>A rs1131691066
NM_001042492.3(NF1):c.1070T>G (p.Leu357Arg) rs137854563
NM_001042492.3(NF1):c.1186-1G>T rs876660782
NM_001042492.3(NF1):c.1528-1G>A rs876660595
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_001042492.3(NF1):c.2252-1G>C rs587781577
NM_001042492.3(NF1):c.2252-2A>G rs1131691105
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2509T>A (p.Trp837Arg) rs587781747
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.3502G>C (p.Gly1168Arg) rs878853883
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro) rs786204157
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His) rs876660206
NM_001042492.3(NF1):c.4725-1G>A rs1555619391
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.60+2del rs1131691101
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg) rs1060500342
NM_001042492.3(NF1):c.6705-3C>G rs1131691079
NM_001042492.3(NF1):c.6919_6921del (p.Lys2307del) rs587782819
NM_001042492.3(NF1):c.889-1G>T rs587781517
NM_001048174.2(MUTYH):c.1102+1G>T rs587781337
NM_001048174.2(MUTYH):c.1240-1G>T rs876660837
NM_001048174.2(MUTYH):c.1257_1258del (p.Ile421fs) rs876659414
NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter) rs876660774
NM_001048174.2(MUTYH):c.1392_1392+6del rs864621967
NM_001048174.2(MUTYH):c.1393-1G>A rs1057517459
NM_001048174.2(MUTYH):c.1393-2_1393-1del rs1570346782
NM_001048174.2(MUTYH):c.1430del (p.Cys477fs)
NM_001048174.2(MUTYH):c.1434+1G>T rs876659420
NM_001048174.2(MUTYH):c.1434+2del rs2149102703
NM_001048174.2(MUTYH):c.1434+4A>G rs876658323
NM_001048174.2(MUTYH):c.1450del (p.Gln484fs)
NM_001048174.2(MUTYH):c.1561del (p.Gln521fs)
NM_001048174.2(MUTYH):c.1A>G (p.Met1Val) rs1570467133
NM_001048174.2(MUTYH):c.248T>C (p.Leu83Pro) rs1557485553
NM_001048174.2(MUTYH):c.264+1G>T rs1553130042
NM_001048174.2(MUTYH):c.265-2A>G
NM_001048174.2(MUTYH):c.299A>G (p.Tyr100Cys) rs876660615
NM_001048174.2(MUTYH):c.304+2T>C
NM_001048174.2(MUTYH):c.305-2A>G rs863224452
NM_001048174.2(MUTYH):c.317A>T (p.Glu106Val) rs864622450
NM_001048174.2(MUTYH):c.323T>C (p.Met108Thr)
NM_001048174.2(MUTYH):c.378+1del
NM_001048174.2(MUTYH):c.378+2T>G rs1553129521
NM_001048174.2(MUTYH):c.378G>A (p.Gln126=) rs1645260006
NM_001048174.2(MUTYH):c.379-1G>A rs1057520660
NM_001048174.2(MUTYH):c.379-1G>T
NM_001048174.2(MUTYH):c.40A>T (p.Lys14Ter)
NM_001048174.2(MUTYH):c.420G>A (p.Glu140=) rs876658641
NM_001048174.2(MUTYH):c.461G>C (p.Arg154Pro) rs143353451
NM_001048174.2(MUTYH):c.479_492+1del rs766553845
NM_001048174.2(MUTYH):c.492+1del rs1553128712
NM_001048174.2(MUTYH):c.493-2A>G rs1553128663
NM_001048174.2(MUTYH):c.493-3C>G
NM_001048174.2(MUTYH):c.605A>G (p.Gln202Arg) rs1645128943
NM_001048174.2(MUTYH):c.606+1G>T rs878854193
NM_001048174.2(MUTYH):c.606G>C (p.Gln202His) rs199989617
NM_001048174.2(MUTYH):c.622G>A (p.Asp208Asn) rs1570409700
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser) rs1057517765
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.655C>G (p.Arg219Gly) rs587782885
NM_001048174.2(MUTYH):c.740_745dup (p.Gly248_Asp249insAlaGly)
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val) rs876659676
NM_001048174.2(MUTYH):c.914-1G>A
NM_001127511.3(APC):c.-191T>G
NM_001127511.3(APC):c.-192_-191delinsTAGCAAGGG rs1580995904
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter) rs1064795596
NM_001128425.2(MUTYH):c.36+2T>C
NM_001128425.2(MUTYH):c.933_933+1del rs1553127514
NM_001258271.2(MLH1):c.1896+834del
NM_001370259.2(MEN1):c.1013T>C (p.Leu338Pro) rs1114167480
NM_001370259.2(MEN1):c.1049+1G>C rs1114167489
NM_001370259.2(MEN1):c.1051T>A (p.Tyr351Asn)
NM_001370259.2(MEN1):c.1064G>A (p.Arg355Gln) rs1114167474
NM_001370259.2(MEN1):c.108_122del (p.Leu37_Leu41del) rs1555166695
NM_001370259.2(MEN1):c.1102G>A (p.Ala368Thr) rs1114167473
NM_001370259.2(MEN1):c.1102G>C (p.Ala368Pro) rs1114167473
NM_001370259.2(MEN1):c.1127T>C (p.Leu376Pro) rs1114167471
NM_001370259.2(MEN1):c.112T>C (p.Ser38Pro)
NM_001370259.2(MEN1):c.124G>C (p.Gly42Arg)
NM_001370259.2(MEN1):c.1258A>T (p.Ile420Phe) rs1114167526
NM_001370259.2(MEN1):c.1259T>G (p.Ile420Ser) rs1114167539
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr) rs386134249
NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg) rs1555164270
NM_001370259.2(MEN1):c.1279A>C (p.Ser427Arg) rs1555164245
NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg) rs1114167528
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His) rs1592636161
NM_001370259.2(MEN1):c.1351-2A>C rs1060499986
NM_001370259.2(MEN1):c.1355G>T (p.Arg452Leu)
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp) rs778670301
NM_001370259.2(MEN1):c.143T>C (p.Leu48Pro) rs1592660057
NM_001370259.2(MEN1):c.1539del (p.Arg516fs) rs1592631908
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.1669A>G (p.Lys557Glu) rs1114167517
NM_001370259.2(MEN1):c.1682T>G (p.Met561Arg)
NM_001370259.2(MEN1):c.1708_1728del (p.Ile570_Lys576del) rs1555163115
NM_001370259.2(MEN1):c.1710del (p.Asn571fs)
NM_001370259.2(MEN1):c.1725del (p.Lys576fs) rs1555163124
NM_001370259.2(MEN1):c.1730T>C (p.Leu577Pro) rs794728634
NM_001370259.2(MEN1):c.249_266del (p.Ser84_Leu89del)
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
NM_001370259.2(MEN1):c.431T>G (p.Phe144Cys)
NM_001370259.2(MEN1):c.473C>A (p.Ala158Asp) rs794728617
NM_001370259.2(MEN1):c.514G>T (p.Asp172Tyr) rs1114167494
NM_001370259.2(MEN1):c.515A>T (p.Asp172Val) rs794728618
NM_001370259.2(MEN1):c.530T>G (p.Leu177Arg)
NM_001370259.2(MEN1):c.541C>G (p.His181Asp)
NM_001370259.2(MEN1):c.542A>G (p.His181Arg) rs1941861451
NM_001370259.2(MEN1):c.654G>T (p.Arg218=)
NM_001370259.2(MEN1):c.658T>C (p.Trp220Arg) rs1085307971
NM_001370259.2(MEN1):c.662T>C (p.Leu221Pro) rs2136143369
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg) rs1592649108
NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr) rs794728624
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) rs386134259
NM_001370259.2(MEN1):c.776T>C (p.Leu259Pro) rs2136139920
NM_001370259.2(MEN1):c.788T>C (p.Leu263Pro) rs1114167502
NM_001370259.2(MEN1):c.824+1G>C rs1060499976
NM_001370259.2(MEN1):c.825-1G>A rs1114167505
NM_001370259.2(MEN1):c.830C>A (p.Pro277His) rs1060499973
NM_001370259.2(MEN1):c.841G>A (p.Gly281Arg) rs1114167493
NM_001370259.2(MEN1):c.851C>T (p.Ala284Val)
NM_001370259.2(MEN1):c.912G>A (p.Lys304=) rs1592646211
NM_001370259.2(MEN1):c.913-1G>A rs1057518572
NM_001370259.2(MEN1):c.913-2A>G rs1114167498
NM_001370259.2(MEN1):c.922T>C (p.Ser308Pro) rs1064793169
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr) rs2136120898
NM_001370259.2(MEN1):c.950A>G (p.His317Arg) rs1114167495
NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg)
NM_002382.5(MAX):c.171+2T>A rs786203009
NM_002382.5(MAX):c.212T>A (p.Ile71Asn) rs876659610
NM_002382.5(MAX):c.348del (p.Ser117fs)
NM_002439.5(MSH3):c.127G>A (p.Ala43Thr) rs1351260483
NM_002439.5(MSH3):c.14del (p.Lys5fs) rs1749186228
NM_002439.5(MSH3):c.1568+1G>C
NM_002439.5(MSH3):c.1654-1G>C
NM_002439.5(MSH3):c.1764-2A>C
NM_002439.5(MSH3):c.1896+1G>A rs1330593620
NM_002439.5(MSH3):c.1896+2T>C rs1580027713
NM_002439.5(MSH3):c.1897-1G>A rs1744149615
NM_002439.5(MSH3):c.2084+1G>A rs2112884587
NM_002439.5(MSH3):c.2084+1G>C
NM_002439.5(MSH3):c.2253+3_2253+7del rs1488467945
NM_002439.5(MSH3):c.2254-1G>A
NM_002439.5(MSH3):c.2319-2A>G rs1197719947
NM_002439.5(MSH3):c.237+1G>A
NM_002439.5(MSH3):c.2435+2T>C rs1580045730
NM_002439.5(MSH3):c.2655+1G>A rs1580053768
NM_002439.5(MSH3):c.2813+1G>A rs2112054627
NM_002439.5(MSH3):c.2814-95_2871del
NM_002439.5(MSH3):c.2988_3000+893del rs1580091639
NM_002439.5(MSH3):c.3001-2A>G rs886037878
NM_002439.5(MSH3):c.358+1G>A rs2112801912
NM_002439.5(MSH3):c.47C>G (p.Ser16Ter)
NM_002439.5(MSH3):c.579+1G>A rs2112809006
NM_002439.5(MSH3):c.57del (p.Arg20fs)
NM_002485.4:c.113_114insALU
NM_002485.5(NBN):c.1124+1G>C rs1057517209
NM_002485.5(NBN):c.115C>T (p.Gln39Ter) rs377730553
NM_002485.5(NBN):c.1397+1_1397+9del rs2129716262
NM_002485.5(NBN):c.1397+1_1397+9delinsACA rs876659666
NM_002485.5(NBN):c.171+1G>A rs931715719
NM_002485.5(NBN):c.171+2T>G
NM_002485.5(NBN):c.172-1_176del
NM_002485.5(NBN):c.172-2A>G
NM_002485.5(NBN):c.1845+1G>A rs2129695663
NM_002485.5(NBN):c.1845+1G>C
NM_002485.5(NBN):c.2070+1G>A rs1554556454
NM_002485.5(NBN):c.2070+2T>G rs786203223
NM_002485.5(NBN):c.2071-1G>A rs786201965
NM_002485.5(NBN):c.2071-1G>C rs786201965
NM_002485.5(NBN):c.2184+1G>A rs756363734
NM_002485.5(NBN):c.2185-1G>A rs1057517262
NM_002485.5(NBN):c.2185-1G>T
NM_002485.5(NBN):c.2226_2234+4del rs1563497529
NM_002485.5(NBN):c.2234+1G>T rs1586024147
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002485.5(NBN):c.2238del (p.Arg745_Tyr746insTer)
NM_002485.5(NBN):c.2T>C (p.Met1Thr) rs746422391
NM_002485.5(NBN):c.320+1G>A rs1364533250
NM_002485.5(NBN):c.321-2A>G rs587777931
NM_002485.5(NBN):c.35_37+10del rs781710700
NM_002485.5(NBN):c.37+2dup rs876658183
NM_002485.5(NBN):c.38-2A>G rs771475965
NM_002485.5(NBN):c.480+2T>G
NM_002485.5(NBN):c.481-1G>A
NM_002485.5(NBN):c.481-2A>G rs751567476
NM_002485.5(NBN):c.4del (p.Trp2fs) rs1275657359
NM_002485.5(NBN):c.584+1G>A rs1811862598
NM_002485.5(NBN):c.584+2T>C rs1586101154
NM_002485.5(NBN):c.585-1_585delinsC rs786203662
NM_002485.5(NBN):c.585-2A>G rs772005832
NM_002485.5(NBN):c.702+1G>A rs1057517104
NM_002485.5(NBN):c.702+1G>C rs1057517104
NM_002485.5(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.5(NBN):c.897-1G>A rs1586076299
NM_002485.5(NBN):c.93del (p.Cys31fs)
NM_002485.5(NBN):c.994+1G>T rs1554562083
NM_002485.5(NBN):c.994+1del
NM_002485.5(NBN):c.994+2T>C rs1586075690
NM_002485.5(NBN):c.994G>A (p.Gly332Arg) rs1437392838
NM_002485.5(NBN):c.995-23_998inv
NM_002485.5(NBN):c.995-2A>G rs876659521
NM_002485.5(NBN):c.9del (p.Lys3fs)
NM_002528.7(NTHL1):c.116-1G>A rs1411394625
NM_002528.7(NTHL1):c.354+1G>A rs1377633383
NM_002528.7(NTHL1):c.42_43del (p.Leu15fs)
NM_002528.7(NTHL1):c.525+2T>G rs2150942179
NM_002528.7(NTHL1):c.545dup (p.Gln183fs)
NM_002528.7(NTHL1):c.709dup (p.Ile237fs) rs2150938411
NM_002528.7(NTHL1):c.792-1G>A
NM_002528.7(NTHL1):c.792-2A>G rs2150937989
NM_002528.7(NTHL1):c.883C>T (p.Gln295Ter)
NM_002734.5(PRKAR1A):c.502+1G>A rs1555813578
NM_002734.5(PRKAR1A):c.932_933del (p.Glu311fs)
NM_002734.5(PRKAR1A):c.973+1G>C
NM_002734.5(PRKAR1A):c.974_981delinsCAAA (p.Gly325fs)
NM_002878.4(RAD51D):c.134_144+15del
NM_002878.4(RAD51D):c.141C>A (p.Tyr47Ter) rs771077929
NM_002878.4(RAD51D):c.144+1dup
NM_002878.4(RAD51D):c.211_263+3141del
NM_002878.4(RAD51D):c.264-2A>C rs1555568514
NM_002878.4(RAD51D):c.264-2A>G rs1555568514
NM_002878.4(RAD51D):c.2T>A (p.Met1Lys) rs1064794619
NM_002878.4(RAD51D):c.2del (p.Met1fs)
NM_002878.4(RAD51D):c.335G>C (p.Gly112Ala) rs587782848
NM_002878.4(RAD51D):c.346-1G>C rs1555568386
NM_002878.4(RAD51D):c.486_532del (p.Glu162fs) rs1597861744
NM_002878.4(RAD51D):c.54del (p.Gln18fs)
NM_002878.4(RAD51D):c.577-2A>G rs1555567649
NM_002878.4(RAD51D):c.5del (p.Gly2fs)
NM_002878.4(RAD51D):c.608delinsGA (p.Val203fs) rs1597858862
NM_002878.4(RAD51D):c.620C>G (p.Ser207Trp) rs370228071
NM_002878.4(RAD51D):c.623dup (p.Thr209fs) rs1555567610
NM_002878.4(RAD51D):c.641dup (p.Leu215fs) rs1409088398
NM_002878.4(RAD51D):c.667+1G>T rs1597858666
NM_002878.4(RAD51D):c.668-2A>C rs1567726325
NM_002878.4(RAD51D):c.738+1G>A rs1567726124
NM_002878.4(RAD51D):c.738G>A (p.Val246=) rs1210620444
NM_002878.4(RAD51D):c.739-2A>T rs1597856297
NM_002878.4(RAD51D):c.752del (p.Ile251fs) rs1597856236
NM_002878.4(RAD51D):c.774dup (p.Arg259fs) rs1555567170
NM_002878.4(RAD51D):c.801del (p.Trp268fs) rs2142411904
NM_002878.4(RAD51D):c.808_857del (p.Phe270fs)
NM_002878.4(RAD51D):c.82+1G>A rs786202788
NM_002878.4(RAD51D):c.82+2T>G rs1597878498
NM_002878.4(RAD51D):c.898del (p.Arg300fs) rs786202251
NM_002878.4(RAD51D):c.901C>T (p.Gln301Ter) rs1060502959
NM_002878.4(RAD51D):c.904-2A>C
NM_002878.4(RAD51D):c.904-2A>T rs1403784434
NM_003000.2:c.251_252insALU
NM_003000.2:c.256_257insALU
NM_003000.3(SDHB):c.127G>C (p.Ala43Pro)
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu) rs772551056
NM_003000.3(SDHB):c.194T>A (p.Leu65His) rs876659329
NM_003000.3(SDHB):c.200+3G>C rs876659330
NM_003000.3(SDHB):c.200+5G>C rs1553178726
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr) rs587782904
NM_003000.3(SDHB):c.221A>T (p.Asp74Val) rs876658713
NM_003000.3(SDHB):c.238A>G (p.Lys80Glu) rs1131691051
NM_003000.3(SDHB):c.278G>T (p.Cys93Phe) rs1131691054
NM_003000.3(SDHB):c.287-3C>G rs1553177772
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe) rs1553177769
NM_003000.3(SDHB):c.296G>A (p.Gly99Asp) rs878854576
NM_003000.3(SDHB):c.331C>G (p.Leu111Val) rs2078005090
NM_003000.3(SDHB):c.332T>C (p.Leu111Pro) rs1570948631
NM_003000.3(SDHB):c.386C>G (p.Pro129Arg) rs587781735
NM_003000.3(SDHB):c.395A>C (p.His132Pro) rs74315372
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr) rs786203529
NM_003000.3(SDHB):c.415C>T (p.Leu139Phe) rs397516834
NM_003000.3(SDHB):c.419T>A (p.Val140Asp)
NM_003000.3(SDHB):c.539T>C (p.Leu180Pro)
NM_003000.3(SDHB):c.566G>T (p.Cys189Phe) rs876658540
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr) rs2077978456
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser) rs2077978300
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg) rs1557739966
NM_003000.3(SDHB):c.622G>A (p.Gly208Arg)
NM_003000.3(SDHB):c.623G>A (p.Gly208Glu)
NM_003000.3(SDHB):c.634C>G (p.Leu212Val) rs1228560456
NM_003000.3(SDHB):c.634C>T (p.Leu212Phe) rs1228560456
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg) rs781590955
NM_003000.3(SDHB):c.642+1G>C rs1131691052
NM_003000.3(SDHB):c.642G>T (p.Gln214His) rs1278834014
NM_003000.3(SDHB):c.643-1G>A rs1553177292
NM_003000.3(SDHB):c.653G>C (p.Trp218Ser) rs1553177290
NM_003000.3(SDHB):c.65_72+16del
NM_003000.3(SDHB):c.688C>G (p.Arg230Gly)
NM_003000.3(SDHB):c.728G>T (p.Cys243Phe) rs1570944788
NM_003000.3(SDHB):c.73-1G>A rs1131691055
NM_003000.3(SDHB):c.73-1G>T rs1131691055
NM_003000.3(SDHB):c.73-2A>G
NM_003000.3(SDHB):c.746G>T (p.Cys249Phe)
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr) rs786201085
NM_003000.3(SDHB):c.761C>T (p.Pro254Leu) rs948484408
NM_003000.3(SDHB):c.780dup (p.Lys261fs) rs1557738304
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs) rs1553176976
NM_003000.3(SDHB):c.789del (p.Ile263fs) rs2077946198
NM_003000.3(SDHB):c.801del (p.Lys268_Met269insTer)
NM_003000.3(SDHB):c.806del (p.Met269fs)
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr) rs1553262444
NM_003001.5(SDHC):c.160C>T (p.Pro54Ser)
NM_003001.5(SDHC):c.179+1G>C rs1057517818
NM_003001.5(SDHC):c.180-2A>G rs1363265634
NM_003001.5(SDHC):c.202T>C (p.Ser68Pro) rs2102336180
NM_003001.5(SDHC):c.21-2A>G rs1131691062
NM_003001.5(SDHC):c.223G>C (p.Gly75Arg) rs867966048
NM_003001.5(SDHC):c.241+1G>A rs748440817
NM_003001.5(SDHC):c.241+1G>T
NM_003001.5(SDHC):c.242-2A>G
NM_003001.5(SDHC):c.452C>A (p.Ser151Tyr) rs1571899020
NM_003001.5(SDHC):c.452_455delinsATGA (p.Ser151_Gly152delinsTyrGlu)
NM_003001.5(SDHC):c.455G>A (p.Gly152Glu) rs1060501386
NM_003001.5(SDHC):c.497T>G (p.Leu166Arg) rs1571899223
NM_003001.5(SDHC):c.77+1G>A rs1558164647
NM_003001.5(SDHC):c.78-1G>T rs786202200
NM_003002.4(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.4(SDHD):c.209G>C (p.Arg70Thr) rs755047928
NM_003002.4(SDHD):c.209G>T (p.Arg70Met) rs755047928
NM_003002.4(SDHD):c.213_215del (p.Val72del) rs1555186992
NM_003002.4(SDHD):c.275A>T (p.Asp92Val) rs786205436
NM_003002.4(SDHD):c.278_280del (p.Tyr93del) rs121908983
NM_003002.4(SDHD):c.278_280dup (p.Tyr93dup) rs121908983
NM_003002.4(SDHD):c.305A>G (p.His102Arg) rs104894302
NM_003002.4(SDHD):c.317G>A (p.Gly106Asp) rs1555187574
NM_003002.4(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003002.4(SDHD):c.320T>C (p.Leu107Pro)
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003002.4(SDHD):c.326_327del (p.Gln109fs) rs1592786159
NM_003002.4(SDHD):c.340T>A (p.Tyr114Asn) rs876659276
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg) rs786203932
NM_003002.4(SDHD):c.430_435del (p.Tyr144_His145del)
NM_003002.4(SDHD):c.443_444delinsTT (p.Gly148Val) rs1555187635
NM_003002.4(SDHD):c.53-7_53-3del rs1865650219
NM_003072.5(SMARCA4):c.102_114dup (p.Ala39fs)
NM_003072.5(SMARCA4):c.222+1G>T
NM_003072.5(SMARCA4):c.2275-1G>C
NM_003072.5(SMARCA4):c.2438+1G>C
NM_003072.5(SMARCA4):c.2438+1G>T rs1555774786
NM_003072.5(SMARCA4):c.2441C>T (p.Thr814Met) rs2089620653
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val) rs2146416371
NM_003072.5(SMARCA4):c.2859+1G>C rs797044856
NM_003072.5(SMARCA4):c.3546+1G>A rs2146603666
NM_003072.5(SMARCA4):c.355+1G>A
NM_003072.5(SMARCA4):c.355+2T>G rs1599942345
NM_003072.5(SMARCA4):c.3774+2T>A rs1475054297
NM_003072.5(SMARCA4):c.3951+2T>C rs1555785056
NM_003072.5(SMARCA4):c.4243C>T (p.Arg1415Ter) rs878854224
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu) rs779769475
NM_003073.5(SMARCB1):c.41C>A (p.Pro14His)
NM_003073.5(SMARCB1):c.934_981del (p.Ala312_Ala327del) rs1601433521
NM_003073.5(SMARCB1):c.986+2T>G
NM_003079.5(SMARCE1):c.238-2A>G
NM_003079.5(SMARCE1):c.816+1del
NM_003079.5(SMARCE1):c.959del (p.Pro320fs)
NM_003924.4(PHOX2B):c.208dup (p.Leu70fs)
NM_003924.4(PHOX2B):c.295C>T (p.Arg99Trp)
NM_003924.4(PHOX2B):c.299G>T (p.Arg100Leu) rs104893855
NM_003924.4(PHOX2B):c.429+1G>A
NM_003924.4(PHOX2B):c.429+1G>T
NM_003924.4(PHOX2B):c.42C>A (p.Tyr14Ter)
NM_003924.4(PHOX2B):c.774_776GGC[3]AGCGGCAGCGGAGGC[1] (p.Ala260_Gly261insAlaAlaAlaAlaGluAlaAla)
NM_003977.4(AIP):c.811C>T (p.Arg271Trp) rs267606579
NM_003977.4(AIP):c.919dup (p.Arg307fs) rs267606589
NM_004064.5(CDKN1B):c.21dup (p.Asn8Ter) rs2136355372
NM_004168.4(SDHA):c.1001_1064+5dup
NM_004168.4(SDHA):c.1064+1G>T rs1579402807
NM_004168.4(SDHA):c.1064+2T>A rs1553999072
NM_004168.4(SDHA):c.1261-2A>G rs1579409293
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu) rs1296066077
NM_004168.4(SDHA):c.1351C>A (p.Arg451Ser) rs1553999752
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys) rs1553999752
NM_004168.4(SDHA):c.1432+1_1432+2delinsAG rs1579410180
NM_004168.4(SDHA):c.151-1G>C rs1458851277
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val) rs137852767
NM_004168.4(SDHA):c.1664-2A>G rs2126633124
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln) rs763766162
NM_004168.4(SDHA):c.1794+1G>A rs876659595
NM_004168.4(SDHA):c.1795-1G>T rs778516878
NM_004168.4(SDHA):c.1832del (p.Gln611fs) rs1554002451
NM_004168.4(SDHA):c.1848del (p.Lys616fs)
NM_004168.4(SDHA):c.1879del (p.Leu627fs)
NM_004168.4(SDHA):c.1909-1G>A rs1159597886
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg) rs1553997377
NM_004168.4(SDHA):c.308_309inv (p.Ala103Val)
NM_004168.4(SDHA):c.313-1G>A
NM_004168.4(SDHA):c.313-2A>C
NM_004168.4(SDHA):c.456+1G>A rs1579384604
NM_004168.4(SDHA):c.456+1G>T rs1579384604
NM_004168.4(SDHA):c.622-2A>T
NM_004168.4(SDHA):c.63+1G>A
NM_004168.4(SDHA):c.63+2del rs1579369969
NM_004168.4(SDHA):c.64-2A>G rs762456298
NM_004168.4(SDHA):c.762_770+17del rs1041809852
NM_004168.4(SDHA):c.940G>A (p.Glu314Lys) rs1337704280
NM_004329.3(BMPR1A):c.1013C>A (p.Ala338Asp) rs199476086
NM_004329.3(BMPR1A):c.1021G>T (p.Gly341Cys) rs1554891077
NM_004329.3(BMPR1A):c.1036C>G (p.His346Asp)
NM_004329.3(BMPR1A):c.1037A>G (p.His346Arg) rs587782536
NM_004329.3(BMPR1A):c.1166+731A>G
NM_004329.3(BMPR1A):c.1167-1G>A rs1589292553
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
NM_004329.3(BMPR1A):c.1409T>G (p.Met470Arg)
NM_004329.3(BMPR1A):c.1438C>G (p.Arg480Gly)
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.3(BMPR1A):c.1473+1G>A rs1589293533
NM_004329.3(BMPR1A):c.1473+1G>T
NM_004329.3(BMPR1A):c.1474-2A>G rs587781407
NM_004329.3(BMPR1A):c.1508G>A (p.Cys503Tyr) rs869312790
NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile) rs1064793490
NM_004329.3(BMPR1A):c.245G>T (p.Cys82Phe) rs1554888310
NM_004329.3(BMPR1A):c.295G>C (p.Gly99Arg)
NM_004329.3(BMPR1A):c.299G>A (p.Cys100Tyr)
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys) rs587782494
NM_004329.3(BMPR1A):c.431-3C>G rs876659613
NM_004329.3(BMPR1A):c.531-1G>T rs1589288524
NM_004329.3(BMPR1A):c.676-1G>C rs1554890734
NM_004329.3(BMPR1A):c.67G>A (p.Gly23Arg) rs1131691171
NM_004329.3(BMPR1A):c.869-9A>G rs2133588734
NM_004360.5(CDH1):c.1009-1G>C rs1597894632
NM_004360.5(CDH1):c.1137+2T>C rs786202817
NM_004360.5(CDH1):c.1553_1565+39del rs1555516191
NM_004360.5(CDH1):c.1565+1del rs1064795267
NM_004360.5(CDH1):c.1565+5G>A rs786201861
NM_004360.5(CDH1):c.1566-2A>G rs1555516520
NM_004360.5(CDH1):c.1613A>T (p.Asp538Val) rs863224726
NM_004360.5(CDH1):c.1703C>G (p.Thr568Arg) rs786202712
NM_004360.5(CDH1):c.1711+1G>C rs886041161
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser) rs786202290
NM_004360.5(CDH1):c.1936+2T>C
NM_004360.5(CDH1):c.1936+5G>A rs1567512631
NM_004360.5(CDH1):c.2165-2A>G rs1596970624
NM_004360.5(CDH1):c.2196G>C (p.Arg732=)
NM_004360.5(CDH1):c.2272G>A (p.Glu758Lys) rs786202785
NM_004360.5(CDH1):c.2295+1G>A
NM_004360.5(CDH1):c.2295+1G>C rs1596971108
NM_004360.5(CDH1):c.2295G>A (p.Gln765=) rs1961383748
NM_004360.5(CDH1):c.2296-3A>G rs113067020
NM_004360.5(CDH1):c.2416G>T (p.Glu806Ter)
NM_004360.5(CDH1):c.2436del (p.Asp812fs)
NM_004360.5(CDH1):c.2439+5_2439+8del rs587782810
NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter) rs1555518211
NM_004360.5(CDH1):c.2474dup (p.Pro826fs) rs1555518221
NM_004360.5(CDH1):c.2480dup (p.Tyr827Ter) rs1596976243
NM_004360.5(CDH1):c.2490dup (p.Leu831fs) rs1131690822
NM_004360.5(CDH1):c.2506G>T (p.Glu836Ter) rs1555518239
NM_004360.5(CDH1):c.48G>C (p.Gln16His) rs749591910
NM_004360.5(CDH1):c.532-1G>C rs771085839
NM_004360.5(CDH1):c.635G>T (p.Gly212Val) rs1555515276
NM_004360.5(CDH1):c.687+2T>C rs1555515297
NM_004360.5(CDH1):c.831A>G (p.Pro277=)
NM_004360.5(CDH1):c.833-9C>G rs878854698
NM_004360.5(CDH1):c.944A>G (p.Asn315Ser)
NM_004655.4(AXIN2):c.1059+1G>C
NM_004655.4(AXIN2):c.1712+1G>T
NM_004655.4(AXIN2):c.1713-1G>A rs1309148182
NM_004655.4(AXIN2):c.2205_2206dup (p.Pro736fs)
NM_004655.4(AXIN2):c.2309del (p.Phe770fs) rs1299440644
NM_004656.4(BAP1):c.1117-1G>A
NM_004656.4(BAP1):c.118C>T (p.Gln40Ter) rs1553646284
NM_004656.4(BAP1):c.1251-1G>A rs1578221396
NM_004656.4(BAP1):c.1251-2A>G rs2153226773
NM_004656.4(BAP1):c.1708C>G (p.Leu570Val)
NM_004656.4(BAP1):c.1730-2A>G rs2153226523
NM_004656.4(BAP1):c.1A>T (p.Met1Leu)
NM_004656.4(BAP1):c.2056+1G>C rs1578218644
NM_004656.4(BAP1):c.2057-2A>G rs587776878
NM_004656.4(BAP1):c.249_255+15delinsAGACC
NM_004656.4(BAP1):c.38-1G>A rs1553646367
NM_004656.4(BAP1):c.3G>C (p.Met1Ile)
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp) rs910211860
NM_004656.4(BAP1):c.553G>A (p.Gly185Arg) rs2153227788
NM_004656.4(BAP1):c.580+1G>T rs1553645785
NM_004656.4(BAP1):c.581-1G>T rs1553645729
NM_004656.4(BAP1):c.59_67+1del
NM_004656.4(BAP1):c.606G>C (p.Trp202Cys)
NM_004656.4(BAP1):c.606G>T (p.Trp202Cys) rs868339867
NM_004656.4(BAP1):c.659+1G>T
NM_004656.4(BAP1):c.659+1del rs1064795667
NM_004656.4(BAP1):c.659+3A>C rs878854741
NM_004656.4(BAP1):c.660-2A>G rs1559589809
NM_004656.4(BAP1):c.68-2_68-1insTTCCTTTCCTTGACACCTTAAC rs1064792988
NM_004656.4(BAP1):c.745_783+57delinsTGG
NM_005359.6(SMAD4):c.1308+1G>T rs587781618
NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly) rs281875324
NM_005431.2(XRCC2):c.109dup (p.Ser37fs) rs1213272601
NM_005431.2(XRCC2):c.122-1G>T rs201836415
NM_005431.2(XRCC2):c.166_167del (p.Glu56fs)
NM_005431.2(XRCC2):c.175del (p.Tyr59fs)
NM_005431.2(XRCC2):c.240_243del (p.Phe80fs)
NM_005431.2(XRCC2):c.2T>C (p.Met1Thr) rs1064793295
NM_005431.2(XRCC2):c.350del (p.Leu117fs) rs764640893
NM_005431.2(XRCC2):c.350dup (p.Leu117fs) rs764640893
NM_005431.2(XRCC2):c.377T>A (p.Leu126Ter) rs1064794088
NM_005431.2(XRCC2):c.377T>G (p.Leu126Ter)
NM_005431.2(XRCC2):c.395C>A (p.Ser132Ter)
NM_005431.2(XRCC2):c.488dup (p.Glu164fs)
NM_005431.2(XRCC2):c.490_491del (p.Glu164fs) rs1590129487
NM_005431.2(XRCC2):c.609del (p.Ser204fs)
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer) rs746142129
NM_005431.2(XRCC2):c.96del (p.Phe32fs) rs730882048
NM_005591.3:c.14_15insALU
NM_005591.4(MRE11):c.1018-1G>A rs1555012083
NM_005591.4(MRE11):c.1098+2T>C rs876659343
NM_005591.4(MRE11):c.1225+1G>A rs876658665
NM_005591.4(MRE11):c.1225_1225+1delinsCA rs2134999194
NM_005591.4(MRE11):c.1226-2A>C rs1555009945
NM_005591.4(MRE11):c.1327-1G>C
NM_005591.4(MRE11):c.1327-2A>G rs878854776
NM_005591.4(MRE11):c.154-1G>A rs1555017290
NM_005591.4(MRE11):c.1564-1G>A
NM_005591.4(MRE11):c.1783+1G>A
NM_005591.4(MRE11):c.1784-2A>G rs201572020
NM_005591.4(MRE11):c.1868-2A>C rs1555002450
NM_005591.4(MRE11):c.1926+2T>C rs1555002390
NM_005591.4(MRE11):c.1926+2_1926+5del rs1555002387
NM_005591.4(MRE11):c.1927-1G>T rs1295485913
NM_005591.4(MRE11):c.1927-2A>G rs587781822
NM_005591.4(MRE11):c.1994+1G>C
NM_005591.4(MRE11):c.1995-2A>G rs1591634006
NM_005591.4(MRE11):c.21-1G>A
NM_005591.4(MRE11):c.21-6_26del rs587780138
NM_005591.4(MRE11):c.314+2T>C rs1591718826
NM_005591.4(MRE11):c.3G>T (p.Met1Ile) rs1555018818
NM_005591.4(MRE11):c.402+2_402+3delinsGGG rs1555015413
NM_005591.4(MRE11):c.402G>C (p.Gly134=) rs587782669
NM_005591.4(MRE11):c.403-2A>G
NM_005591.4(MRE11):c.403-2A>T rs2135086294
NM_005591.4(MRE11):c.47T>G (p.Leu16Ter)
NM_005591.4(MRE11):c.56del (p.Thr19fs)
NM_005591.4(MRE11):c.660-1G>A rs876658917
NM_005591.4(MRE11):c.845+2T>A rs587781381
NM_005591.4(MRE11):c.846-1G>T
NM_005591.4(MRE11):c.846-2A>C rs1591693112
NM_005732.3:c.2291_2292insALU
NM_005732.4(RAD50):c.1245+1G>A rs1561639636
NM_005732.4(RAD50):c.12_13delinsTT (p.Glu5Ter)
NM_005732.4(RAD50):c.1636-2A>G rs1554098466
NM_005732.4(RAD50):c.1794-1G>T rs587781742
NM_005732.4(RAD50):c.1969+1G>A rs587782078
NM_005732.4(RAD50):c.1970-2A>G rs876660728
NM_005732.4(RAD50):c.1A>G (p.Met1Val) rs876658212
NM_005732.4(RAD50):c.2524+1G>T rs1581001575
NM_005732.4(RAD50):c.2525-1G>T rs1015686770
NM_005732.4(RAD50):c.263_365+47delinsCAAAAAGAC rs1580985027
NM_005732.4(RAD50):c.2718+1_2718+5del rs876659158
NM_005732.4(RAD50):c.2829+5G>C rs1446519890
NM_005732.4(RAD50):c.2830-2A>C rs1554099356
NM_005732.4(RAD50):c.2922+1G>A rs1581004749
NM_005732.4(RAD50):c.3164+1G>A rs786203805
NM_005732.4(RAD50):c.3164+1G>C rs786203805
NM_005732.4(RAD50):c.3164+2T>C
NM_005732.4(RAD50):c.3389+1G>A rs762648843
NM_005732.4(RAD50):c.3389+1G>C rs762648843
NM_005732.4(RAD50):c.3390-1G>A
NM_005732.4(RAD50):c.3475+1G>A
NM_005732.4(RAD50):c.3475+2T>C rs761168506
NM_005732.4(RAD50):c.3476-10_3480del rs587782866
NM_005732.4(RAD50):c.3612_3618+5del rs995265408
NM_005732.4(RAD50):c.3618+1G>A rs587781925
NM_005732.4(RAD50):c.3619-2A>G
NM_005732.4(RAD50):c.366-2A>G rs1554097755
NM_005732.4(RAD50):c.3722_3745delinsGCGTA (p.Asn1241fs)
NM_005732.4(RAD50):c.3753-1G>A rs1554101314
NM_005732.4(RAD50):c.551+2T>A rs1580987375
NM_005732.4(RAD50):c.551+2T>C rs1580987375
NM_005732.4(RAD50):c.552-1G>T
NM_005732.4(RAD50):c.756+2T>G rs764122619
NM_005732.4(RAD50):c.756_756+2delinsTG rs1554097840
NM_005732.4(RAD50):c.886-1G>C rs1580992079
NM_005732.4(RAD50):c.886-4_890delinsCAAATAAA rs1554098191
NM_006361.6(HOXB13):c.853del (p.Ter285LysextTer?) rs77179853
NM_007194.3:c.(319+1_320-1)_(846+1_847-1)dup
NM_007194.3:c.(846+1_847-1)_(908+1_909-1)dup
NM_007194.3:c.966_967insSVA
NM_007194.4(CHEK2):c.1008+1G>A rs1555915298
NM_007194.4(CHEK2):c.1008+1G>T rs1555915298
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.1009-2A>G rs766158073
NM_007194.4(CHEK2):c.1095+1G>A rs768172525
NM_007194.4(CHEK2):c.1095+2dup
NM_007194.4(CHEK2):c.1096-1G>A rs1060502716
NM_007194.4(CHEK2):c.1096-1G>C rs1060502716
NM_007194.4(CHEK2):c.1096-3_1098del rs876659838
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1259+1G>A rs121908707
NM_007194.4(CHEK2):c.1259+1G>C rs121908707
NM_007194.4(CHEK2):c.1375+1G>C rs759706360
NM_007194.4(CHEK2):c.1375+1_1375+2del rs876660801
NM_007194.4(CHEK2):c.1376-1G>A rs876659287
NM_007194.4(CHEK2):c.1376-1G>C rs876659287
NM_007194.4(CHEK2):c.1376-21_1382del
NM_007194.4(CHEK2):c.1376-27C>G
NM_007194.4(CHEK2):c.1376-2A>C
NM_007194.4(CHEK2):c.1376-2A>G rs2145786737
NM_007194.4(CHEK2):c.1408_1461+209del
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1461+1G>T rs886039629
NM_007194.4(CHEK2):c.1461+2T>C rs779844113
NM_007194.4(CHEK2):c.1462-10_1472del
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1476del (p.Arg493fs)
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) rs1555912044
NM_007194.4(CHEK2):c.1492del (p.Leu498fs) rs2052245881
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter) rs587782489
NM_007194.4(CHEK2):c.1542+3A>G rs1060502722
NM_007194.4(CHEK2):c.1543-11_1543-2del rs2145739661
NM_007194.4(CHEK2):c.1543-2A>C rs1160973224
NM_007194.4(CHEK2):c.1546del (p.Ser516fs) rs1555911636
NM_007194.4(CHEK2):c.1547del (p.Ser516fs) rs1555911635
NM_007194.4(CHEK2):c.1558_1559insC (p.Lys520fs) rs876658646
NM_007194.4(CHEK2):c.319+1G>T rs765080766
NM_007194.4(CHEK2):c.319+1del
NM_007194.4(CHEK2):c.320-10_375del
NM_007194.4(CHEK2):c.320-1801_592+317dup
NM_007194.4(CHEK2):c.320-1843_592+340dup
NM_007194.4(CHEK2):c.320-1G>C rs864622613
NM_007194.4(CHEK2):c.320-1G>T rs864622613
NM_007194.4(CHEK2):c.320-2048_593-1211dup
NM_007194.4(CHEK2):c.401A>G (p.Asp134Gly) rs1404473412
NM_007194.4(CHEK2):c.444+1G>T rs121908698
NM_007194.4(CHEK2):c.444+1del rs1064793780
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.445-1G>A rs587782830
NM_007194.4(CHEK2):c.445-1G>C rs587782830
NM_007194.4(CHEK2):c.445-8_446del rs2146062270
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.592+1G>C rs1601822722
NM_007194.4(CHEK2):c.592+2T>C rs1601822717
NM_007194.4(CHEK2):c.592+2T>G
NM_007194.4(CHEK2):c.592G>A (p.Val198Ile) rs1555926708
NM_007194.4(CHEK2):c.593-1G>A rs786203229
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.683+1G>A rs786203650
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.683+2T>A rs781021132
NM_007194.4(CHEK2):c.684-1G>A rs1298667185
NM_007194.4(CHEK2):c.684-1G>T rs1298667185
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007194.4(CHEK2):c.684-3_684-2del
NM_007194.4(CHEK2):c.792+1G>A rs1555921011
NM_007194.4(CHEK2):c.793-1G>T rs730881687
NM_007194.4(CHEK2):c.846+1G>A rs864622149
NM_007194.4(CHEK2):c.846+1G>T rs864622149
NM_007194.4(CHEK2):c.846+1_846+2del
NM_007194.4(CHEK2):c.846+2T>C rs1601777275
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.847-14_847-2del rs1293617484
NM_007194.4(CHEK2):c.847-14_847-2delinsGG rs1555917041
NM_007194.4(CHEK2):c.847-1G>A rs878854926
NM_007194.4(CHEK2):c.847-2A>G rs1601753141
NM_007194.4(CHEK2):c.908+1G>A rs587781699
NM_007194.4(CHEK2):c.908+1G>T rs587781699
NM_007194.4(CHEK2):c.908+1_908+8delinsTT rs1569127917
NM_007194.4(CHEK2):c.908+2T>G
NM_007194.4(CHEK2):c.908+3A>T rs1601752050
NM_007194.4(CHEK2):c.908+5G>A rs1064796016
NM_007194.4(CHEK2):c.909-1G>A rs886039721
NM_007194.4(CHEK2):c.909-2A>G rs1555915589
NM_007294.3(BRCA1):c.5193+3_5193+15del rs273901752
NM_007294.3(BRCA1):c.5408delG
NM_007294.3:c.(134+1_135-1)_(593+1_594-1)dup
NM_007294.3:c.(4986+1_4987-1)_(5074+1_5075-1)dup
NM_007294.3:c.1569_1570insSVA
NM_007294.3:c.2692_2693insALU
NM_007294.4(BRCA1):c.100C>T (p.Pro34Ser) rs1064793357
NM_007294.4(BRCA1):c.101C>G (p.Pro34Arg) rs786203319
NM_007294.4(BRCA1):c.101C>T (p.Pro34Leu) rs786203319
NM_007294.4(BRCA1):c.121C>A (p.His41Asn) rs1060502353
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr) rs1060502353
NM_007294.4(BRCA1):c.132C>T (p.Cys44=) rs876658362
NM_007294.4(BRCA1):c.134+1G>T rs80358043
NM_007294.4(BRCA1):c.134+3_134+6del rs397508858
NM_007294.4(BRCA1):c.208_212+22del rs1555597152
NM_007294.4(BRCA1):c.211A>T (p.Arg71Trp) rs80357382
NM_007294.4(BRCA1):c.212+1del rs786203526
NM_007294.4(BRCA1):c.212+2T>C rs80358026
NM_007294.4(BRCA1):c.212G>T (p.Arg71Met) rs80356913
NM_007294.4(BRCA1):c.213-7A>G rs2054700180
NM_007294.4(BRCA1):c.231G>T (p.Thr77=) rs80356847
NM_007294.4(BRCA1):c.247G>T (p.Val83Phe) rs1060502343
NM_007294.4(BRCA1):c.284T>C (p.Leu95Pro) rs2054675041
NM_007294.4(BRCA1):c.286G>C (p.Asp96His) rs80357110
NM_007294.4(BRCA1):c.302-1G>A rs80358116
NM_007294.4(BRCA1):c.302-1G>C rs80358116
NM_007294.4(BRCA1):c.302-1G>T rs80358116
NM_007294.4(BRCA1):c.302-2A>C rs80358011
NM_007294.4(BRCA1):c.302-2A>G rs80358011
NM_007294.4(BRCA1):c.32T>G (p.Val11Gly) rs80357017
NM_007294.4(BRCA1):c.4097-1G>A rs80358070
NM_007294.4(BRCA1):c.4097-20_4134del rs2053440925
NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His) rs80356857
NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr) rs273900729
NM_007294.4(BRCA1):c.441+1G>A rs397509172
NM_007294.4(BRCA1):c.441+1G>C
NM_007294.4(BRCA1):c.441+2T>A rs397509173
NM_007294.4(BRCA1):c.441+2T>C rs397509173
NM_007294.4(BRCA1):c.4676-1G>A rs80358008
NM_007294.4(BRCA1):c.4676-1G>C rs80358008
NM_007294.4(BRCA1):c.4676-2A>G rs80358096
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.4970T>C (p.Leu1657Pro) rs1597830263
NM_007294.4(BRCA1):c.4986+4A>T rs80358087
NM_007294.4(BRCA1):c.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.4987-1G>C rs730881495
NM_007294.4(BRCA1):c.4987-2A>C rs397509212
NM_007294.4(BRCA1):c.4987-2A>G rs397509212
NM_007294.4(BRCA1):c.4987-3C>A rs397509213
NM_007294.4(BRCA1):c.4987-5T>A rs397509214
NM_007294.4(BRCA1):c.4987-6T>A rs2052193063
NM_007294.4(BRCA1):c.4987-7A>G rs1025136518
NM_007294.4(BRCA1):c.5003T>C (p.Phe1668Ser) rs1567772408
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5054_5074+3del
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.4(BRCA1):c.5066T>A (p.Met1689Lys) rs80357061
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg) rs80357034
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5074+3A>T rs80358181
NM_007294.4(BRCA1):c.5075-1G>T rs1800747
NM_007294.4(BRCA1):c.5075-8T>G rs397509221
NM_007294.4(BRCA1):c.5075A>T (p.Asp1692Val) rs397509222
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.4(BRCA1):c.5099C>T (p.Thr1700Ile) rs2051927197
NM_007294.4(BRCA1):c.5104A>C (p.Lys1702Gln) rs2051925024
NM_007294.4(BRCA1):c.5105A>T (p.Lys1702Ile) rs2051924695
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys) rs876660071
NM_007294.4(BRCA1):c.5114T>C (p.Leu1705Pro) rs397507242
NM_007294.4(BRCA1):c.5116G>A (p.Gly1706Arg) rs886040864
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5137G>T (p.Val1713Leu) rs1064793309
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5140G>T (p.Val1714Phe) rs1567769244
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys) rs80357222
NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg) rs80357094
NM_007294.4(BRCA1):c.5152+4A>G rs397509232
NM_007294.4(BRCA1):c.5152+5G>T rs80358165
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly) rs1567769155
NM_007294.4(BRCA1):c.5153-16_5156delinsAATA rs587781526
NM_007294.4(BRCA1):c.5153-2A>G rs786202545
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.4(BRCA1):c.5156T>G (p.Val1719Gly) rs1247437511
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr) rs80357104
NM_007294.4(BRCA1):c.5194-2A>C rs80358069
NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu) rs869320780
NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del) rs80358347
NM_007294.4(BRCA1):c.5215G>C (p.Asp1739His) rs80357283
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5217T>G (p.Asp1739Glu) rs80357340
NM_007294.4(BRCA1):c.5236C>G (p.His1746Asp) rs80357146
NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg) rs397507245
NM_007294.4(BRCA1):c.5242G>T (p.Gly1748Cys) rs397507245
NM_007294.4(BRCA1):c.5252G>C (p.Arg1751Pro) rs80357442
NM_007294.4(BRCA1):c.5254G>A (p.Ala1752Thr) rs80357074
NM_007294.4(BRCA1):c.5277+1_5277+6del rs1060502356
NM_007294.4(BRCA1):c.5277+2T>G rs2051494815
NM_007294.4(BRCA1):c.5278-2A>G rs397509253
NM_007294.4(BRCA1):c.5278-2A>T rs397509253
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_007294.4(BRCA1):c.5288G>T (p.Gly1763Val) rs80357007
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.4(BRCA1):c.5323A>G (p.Met1775Val) rs2051198464
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) rs41293463
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg) rs80357474
NM_007294.4(BRCA1):c.5352dup (p.Gln1785fs) rs80357744
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys) rs397509271
NM_007294.4(BRCA1):c.5366C>T (p.Ala1789Val) rs2051085308
NM_007294.4(BRCA1):c.536_547+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5406+5G>A rs80358073
NM_007294.4(BRCA1):c.5406del (p.Gly1803fs)
NM_007294.4(BRCA1):c.5407-1G>C rs80358029
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala) rs80357149
NM_007294.4(BRCA1):c.5426T>A (p.Val1809Asp) rs80357216
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg) rs80357040
NM_007294.4(BRCA1):c.5467G>C (p.Ala1823Pro) rs80357212
NM_007294.4(BRCA1):c.5468-2A>G rs398122699
NM_007294.4(BRCA1):c.5468-2A>T rs398122699
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5503dup (p.Arg1835fs) rs397509291
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys) rs80356914
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser) rs398122702
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn) rs80357368
NM_007294.4(BRCA1):c.5522G>C (p.Ser1841Thr) rs80357368
NM_007294.4(BRCA1):c.5527G>C (p.Ala1843Pro) rs80357019
NM_007294.4(BRCA1):c.5528C>A (p.Ala1843Glu) rs730881447
NM_007294.4(BRCA1):c.5545G>T (p.Glu1849Ter) rs2050864747
NM_007294.4(BRCA1):c.5558A>C (p.Tyr1853Ser) rs80357258
NM_007294.4(BRCA1):c.5561T>C (p.Leu1854Pro) rs80356996
NM_007294.4(BRCA1):c.5569del (p.Gln1857fs) rs886039675
NM_007294.4(BRCA1):c.56A>C (p.Gln19Pro) rs2055725680
NM_007294.4(BRCA1):c.594_597delTGTG rs797045175
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.671-1G>C rs80358020
NM_007294.4(BRCA1):c.671-1G>T rs80358020
NM_007294.4(BRCA1):c.671-2A>G rs80358108
NM_007294.4(BRCA1):c.74C>T (p.Pro25Leu) rs876660096
NM_007294.4(BRCA1):c.779A>G (p.Lys260Arg) rs2054049431
NM_007294.4(BRCA1):c.80G>A (p.Cys27Tyr) rs1064793052
NM_007294.4(BRCA1):c.80G>T (p.Cys27Phe) rs1064793052
NM_007294.4(BRCA1):c.81-2A>G rs397509326
NM_007294.4(BRCA1):c.81-6T>A rs80358179
NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro) rs80357266
NM_015450.3(POT1):c.10-2A>C rs1554434788
NM_015450.3(POT1):c.108T>G (p.Tyr36Ter)
NM_015450.3(POT1):c.1163+1G>A rs1562981766
NM_015450.3(POT1):c.124+1G>A
NM_015450.3(POT1):c.125-2A>G rs1562997292
NM_015450.3(POT1):c.126T>G (p.Asp42Glu) rs1554429221
NM_015450.3(POT1):c.1369+1G>A
NM_015450.3(POT1):c.1369+1G>T
NM_015450.3(POT1):c.1792+1G>A rs1562972354
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs) rs758673417
NM_015450.3(POT1):c.1A>G (p.Met1Val) rs1584510207
NM_015450.3(POT1):c.255+1G>A rs1584777699
NM_015450.3(POT1):c.255+1G>T rs1584777699
NM_015450.3(POT1):c.266A>G (p.Tyr89Cys) rs587777472
NM_015450.3(POT1):c.2dup (p.Met1fs)
NM_015450.3(POT1):c.33_34dup (p.Thr12fs)
NM_015450.3(POT1):c.347C>T (p.Pro116Leu) rs1554426966
NM_015450.3(POT1):c.349C>T (p.Arg117Cys) rs780936436
NM_015450.3(POT1):c.79G>C (p.Gly27Arg) rs1584791977
NM_015450.3(POT1):c.818G>A (p.Arg273Gln) rs587777476
NM_015450.3(POT1):c.9+1G>A
NM_016169.4(SUFU):c.597+1G>A rs1590062006
NM_016169.4(SUFU):c.683+5G>A
NM_016169.4(SUFU):c.739_756+12del
NM_016169.4(SUFU):c.911-8C>A
NM_017841.4(SDHAF2):c.233G>A (p.Gly78Glu) rs1590764905
NM_017841.4(SDHAF2):c.260+1G>A rs749527870
NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter) rs750979204
NM_017841.4(SDHAF2):c.357C>G (p.Tyr119Ter)
NM_017849.3:c.498_499insALU
NM_017849.4(TMEM127):c.245-2del
NM_017849.4(TMEM127):c.2T>G (p.Met1Arg) rs1684398953
NM_017849.4(TMEM127):c.409+1_409+8del
NM_017849.4(TMEM127):c.410-2A>G rs121908826
NM_017849.4(TMEM127):c.541dup (p.Ala181fs)
NM_017849.4(TMEM127):c.570del (p.Thr191fs) rs1215337884
NM_017849.4(TMEM127):c.613del (p.Glu205fs) rs1684144086
NM_020975.6(RET):c.1664T>G (p.Phe555Cys)
NM_020975.6(RET):c.1760-2_1760-1del
NM_020975.6(RET):c.1817A>G (p.Tyr606Cys) rs377767395
NM_020975.6(RET):c.1888T>A (p.Cys630Ser)
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.2617C>T (p.Arg873Trp)
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442
NM_024529.5(CDC73):c.1030+1G>A
NM_024529.5(CDC73):c.1067-2A>G
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.238-1G>T
NM_024675.3:c.1246_1247insALU
NM_024675.3:c.2098_2099insALU
NM_024675.3:c.2099_2100insALU
NM_024675.3:c.2455_2456insALU
NM_024675.3:c.2913_2914insALU
NM_024675.3:c.3180_3181insALU
NM_024675.4(PALB2):c.108+1_108+2insC rs1597101776
NM_024675.4(PALB2):c.108+2_108+12delinsCGGC rs1597101736
NM_024675.4(PALB2):c.109-12T>A rs774949203
NM_024675.4(PALB2):c.109-2A>C rs730881897
NM_024675.4(PALB2):c.109-2A>G rs730881897
NM_024675.4(PALB2):c.1684+1G>A rs1555461148
NM_024675.4(PALB2):c.1684+1G>T rs1555461148
NM_024675.4(PALB2):c.1685-1G>C rs1057520645
NM_024675.4(PALB2):c.1685-2A>C rs754660432
NM_024675.4(PALB2):c.1685-2A>G rs754660432
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.1A>C (p.Met1Leu)
NM_024675.4(PALB2):c.1A>G (p.Met1Val) rs879254144
NM_024675.4(PALB2):c.211+1G>A rs1555462026
NM_024675.4(PALB2):c.2514+1G>C rs886039729
NM_024675.4(PALB2):c.2514+1G>T
NM_024675.4(PALB2):c.2515-1G>A rs587776417
NM_024675.4(PALB2):c.2515-1G>C rs587776417
NM_024675.4(PALB2):c.2586+1_2586+2delinsTA
NM_024675.4(PALB2):c.2587-1G>C rs761214886
NM_024675.4(PALB2):c.2587-2A>C rs1060502787
NM_024675.4(PALB2):c.2748+1G>A rs753153576
NM_024675.4(PALB2):c.2748+1G>T rs753153576
NM_024675.4(PALB2):c.2748+2T>C rs1060499821
NM_024675.4(PALB2):c.2749-2A>C rs1555459747
NM_024675.4(PALB2):c.2749-2A>G rs1555459747
NM_024675.4(PALB2):c.2834+1G>A rs587776419
NM_024675.4(PALB2):c.2834+1G>C rs587776419
NM_024675.4(PALB2):c.2834+1G>T rs587776419
NM_024675.4(PALB2):c.2834+2T>C rs864622481
NM_024675.4(PALB2):c.2835-1G>A rs515726099
NM_024675.4(PALB2):c.2835-1G>C rs515726099
NM_024675.4(PALB2):c.2996+1G>T rs886039626
NM_024675.4(PALB2):c.2996+5G>T rs879254193
NM_024675.4(PALB2):c.2997-1G>A rs754465466
NM_024675.4(PALB2):c.2T>C (p.Met1Thr) rs756519825
NM_024675.4(PALB2):c.2T>G (p.Met1Arg)
NM_024675.4(PALB2):c.3113+1G>A rs1597079557
NM_024675.4(PALB2):c.3113+1G>C
NM_024675.4(PALB2):c.3113+5G>A rs876659463
NM_024675.4(PALB2):c.3114-1G>A rs886039619
NM_024675.4(PALB2):c.3114-554_3166del
NM_024675.4(PALB2):c.31del (p.Cys11fs)
NM_024675.4(PALB2):c.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3201+1del
NM_024675.4(PALB2):c.3201+3A>C rs876660215
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_024675.4(PALB2):c.3202-1G>C rs515726111
NM_024675.4(PALB2):c.3202-2A>C rs1060499827
NM_024675.4(PALB2):c.3240del (p.Glu1081fs)
NM_024675.4(PALB2):c.3290_3292delinsAT (p.Pro1097fs)
NM_024675.4(PALB2):c.3324C>A (p.Tyr1108Ter) rs1218512317
NM_024675.4(PALB2):c.3350+2C>G rs1555458171
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_024675.4(PALB2):c.3350_3350+1delinsC
NM_024675.4(PALB2):c.3351-1G>C rs1597062406
NM_024675.4(PALB2):c.3351-2A>G rs1060502764
NM_024675.4(PALB2):c.3351-2A>T
NM_024675.4(PALB2):c.3448_3450delinsTT (p.Leu1150fs)
NM_024675.4(PALB2):c.3483del (p.Phe1161fs) rs2142252781
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter) rs773829275
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.3G>A (p.Met1Ile) rs1057517585
NM_024675.4(PALB2):c.48+1G>A rs515726118
NM_024675.4(PALB2):c.48+1G>C rs515726118
NM_024675.4(PALB2):c.48+1del rs1060499829
NM_024675.4(PALB2):c.48+2T>G rs876659679
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.49-1G>A rs1440838364
NM_024675.4(PALB2):c.49-2A>T rs786203245
NM_024675.4(PALB2):c.9_48+118del
NM_032043.2:c.(627+1_628-1)_(1473+1_1474-1)dup
NM_032043.2:c.577_578insALU
NM_032043.3(BRIP1):c.1140+3del rs2145331108
NM_032043.3(BRIP1):c.1140+6T>C
NM_032043.3(BRIP1):c.1141-2A>G
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp) rs1603342316
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)
NM_032043.3(BRIP1):c.128T>A (p.Leu43Ter)
NM_032043.3(BRIP1):c.1340+1G>A rs1555607022
NM_032043.3(BRIP1):c.1340+2_1340+5del rs2077945546
NM_032043.3(BRIP1):c.1341-3C>G rs864622597
NM_032043.3(BRIP1):c.1473+1G>A rs748274524
NM_032043.3(BRIP1):c.1474-1G>A rs1555603638
NM_032043.3(BRIP1):c.1474-2A>G rs1603337052
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.1629-1G>T rs1060501757
NM_032043.3(BRIP1):c.1629-2A>G
NM_032043.3(BRIP1):c.1794+2T>A
NM_032043.3(BRIP1):c.1795-1G>A rs1368457771
NM_032043.3(BRIP1):c.1936-1G>A rs1555601204
NM_032043.3(BRIP1):c.1936-2A>G rs878855143
NM_032043.3(BRIP1):c.2097+1G>C rs786202941
NM_032043.3(BRIP1):c.2098-1G>T
NM_032043.3(BRIP1):c.2098-3_2098-1delinsAA
NM_032043.3(BRIP1):c.2258-1G>A rs1064793887
NM_032043.3(BRIP1):c.2370_2379+20del rs2144674380
NM_032043.3(BRIP1):c.2379+1G>T rs1555590286
NM_032043.3(BRIP1):c.2492+1G>A
NM_032043.3(BRIP1):c.2492+1del rs1603293314
NM_032043.3(BRIP1):c.2492_2492+5del rs1603293306
NM_032043.3(BRIP1):c.2493-1G>A rs786203451
NM_032043.3(BRIP1):c.2493-1G>C rs786203451
NM_032043.3(BRIP1):c.2575+1G>C
NM_032043.3(BRIP1):c.2575+1G>T rs1567737536
NM_032043.3(BRIP1):c.2575+2dup rs1555574711
NM_032043.3(BRIP1):c.2576-2A>G rs869312763
NM_032043.3(BRIP1):c.2859del (p.Asn955fs)
NM_032043.3(BRIP1):c.2905+1G>A rs876660203
NM_032043.3(BRIP1):c.2905+1G>C
NM_032043.3(BRIP1):c.2905+1G>T rs876660203
NM_032043.3(BRIP1):c.2905+2T>C rs1603276502
NM_032043.3(BRIP1):c.2905+3A>T
NM_032043.3(BRIP1):c.2986C>T (p.Gln996Ter)
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs) rs1342519012
NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter) rs1603275526
NM_032043.3(BRIP1):c.3173_3179delinsCTC (p.Leu1058fs) rs1555572799
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs) rs748598593
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter) rs777213170
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer) rs1603275367
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter) rs786202927
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter) rs1060501774
NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs) rs1603275179
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs) rs1426528935
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs) rs778664039
NM_032043.3(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer) rs876660100
NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs) rs753683450
NM_032043.3(BRIP1):c.379+1del
NM_032043.3(BRIP1):c.507+1G>T rs2145761239
NM_032043.3(BRIP1):c.507G>A (p.Gln169=) rs876660937
NM_032043.3(BRIP1):c.507G>C (p.Gln169His)
NM_032043.3(BRIP1):c.507G>T (p.Gln169His) rs876660937
NM_032043.3(BRIP1):c.508-1G>C rs864622277
NM_032043.3(BRIP1):c.508-1G>T rs864622277
NM_032043.3(BRIP1):c.508-2A>G rs876659707
NM_032043.3(BRIP1):c.508-2A>T rs876659707
NM_032043.3(BRIP1):c.627+1G>A rs587780833
NM_032043.3(BRIP1):c.627+1G>T rs587780833
NM_032043.3(BRIP1):c.628-3C>G
NM_032043.3(BRIP1):c.628-5_629del rs1555609402
NM_032043.3(BRIP1):c.727A>G (p.Ile243Val)
NM_032043.3(BRIP1):c.72del (p.Gln25fs)
NM_032043.3(BRIP1):c.918+2T>C rs1603346587
NM_032043.3(BRIP1):c.93+1G>A rs587782047
NM_032043.3(BRIP1):c.93+1G>T rs587782047
NM_032043.3(BRIP1):c.93+2del
NM_032043.3(BRIP1):c.93+2dup rs786202125
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.3(BRIP1):c.93+5G>A rs730881629
NM_032043.3(BRIP1):c.93+5G>C rs730881629
NM_032043.3(BRIP1):c.94-2A>G
NM_058195.4(CDKN2A):c.193+1del rs1820525500
NM_058195.4(CDKN2A):c.193+2T>C rs2131147945
NM_058195.4(CDKN2A):c.193+5G>A rs587782083
NM_058216.1:c.371_372insALU
NM_058216.3(RAD51C):c.1004_1005delinsAA (p.Cys335Ter) rs1598535096
NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter) rs1555605103
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.126dup (p.Pro43fs)
NM_058216.3(RAD51C):c.145+1G>A rs757128712
NM_058216.3(RAD51C):c.145+2T>G rs1057517641
NM_058216.3(RAD51C):c.146-1G>T rs1555593458
NM_058216.3(RAD51C):c.146-2A>G rs1555593457
NM_058216.3(RAD51C):c.146-4_146-2del rs1555593450
NM_058216.3(RAD51C):c.404+1G>A rs1555593939
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.50del (p.Phe17fs) rs1555591851
NM_058216.3(RAD51C):c.570_571+16del
NM_058216.3(RAD51C):c.571+1del rs1327086366
NM_058216.3(RAD51C):c.571G>T (p.Glu191Ter)
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_058216.3(RAD51C):c.572-3C>G rs1567794089
NM_058216.3(RAD51C):c.705+1G>A rs876658644
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719
NM_058216.3(RAD51C):c.706-1G>T rs1555599090
NM_058216.3(RAD51C):c.706-2A>C rs587780259
NM_058216.3(RAD51C):c.837+1G>C rs760235677
NM_058216.3(RAD51C):c.837+1G>T rs760235677
NM_058216.3(RAD51C):c.837+1del rs1555599288
NM_058216.3(RAD51C):c.837+2T>C rs1567799943
NM_058216.3(RAD51C):c.837+4_837+7del rs727503760
NM_058216.3(RAD51C):c.838-2A>G rs748589398
NM_058216.3(RAD51C):c.904+1G>A rs1555602159
NM_058216.3(RAD51C):c.904+1G>T rs1555602159
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg) rs1555602158
NM_058216.3(RAD51C):c.905-3_906del rs730881941
NM_058216.3(RAD51C):c.917dup (p.His307fs)
NM_058216.3(RAD51C):c.965+1G>A rs730881933
NM_058216.3(RAD51C):c.965+5G>A rs774586107
NM_058216.3(RAD51C):c.97_98del (p.Gln33fs) rs587780840
NM_058216.3(RAD51C):c.981C>G (p.Tyr327Ter)
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter) rs1555605074
NM_144997.7(FLCN):c.1176+1G>A
NM_144997.7(FLCN):c.1176+1G>C rs1555607929
NM_144997.7(FLCN):c.1176+1G>T rs1555607929
NM_144997.7(FLCN):c.1300+5G>C rs746264578
NM_144997.7(FLCN):c.1301-1G>A
NM_144997.7(FLCN):c.1301-2A>C
NM_144997.7(FLCN):c.1301-2A>G rs1555607296
NM_144997.7(FLCN):c.1432+1G>T
NM_144997.7(FLCN):c.1498del (p.Val500fs) rs1597578776
NM_144997.7(FLCN):c.1615dup (p.Leu539fs)
NM_144997.7(FLCN):c.1616dup (p.Ala541fs) rs2144810362
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg) rs1131690833
NM_144997.7(FLCN):c.1_18delinsTGTTGCAG (p.Met1fs)
NM_144997.7(FLCN):c.397-1G>T rs2144983515
NM_144997.7(FLCN):c.397-2A>G
NM_144997.7(FLCN):c.761T>C (p.Leu254Pro)
NM_144997.7(FLCN):c.767CCT[1] (p.Ser257del)
NM_144997.7(FLCN):c.780-2A>G rs1555609514
NM_144997.7(FLCN):c.871+132G>T
NM_144997.7(FLCN):c.91C>T (p.Gln31Ter) rs1597618162
NM_177438.3(DICER1):c.1376+1G>A rs886037670
NM_177438.3(DICER1):c.1753-9A>G rs1595407392
NM_177438.3(DICER1):c.2041-2A>G rs1131691204
NM_177438.3(DICER1):c.2041-5_2041-2del rs1595394092
NM_177438.3(DICER1):c.2041-7_2041-2delinsAT
NM_177438.3(DICER1):c.2256+5G>T
NM_177438.3(DICER1):c.2257-7A>G rs1891665514
NM_177438.3(DICER1):c.2436+1G>T rs1595381795
NM_177438.3(DICER1):c.2436+1dup
NM_177438.3(DICER1):c.2650+1G>A rs886037691
NM_177438.3(DICER1):c.2988-2A>G rs1595372950
NM_177438.3(DICER1):c.4050+1G>A rs875989783
NM_177438.3(DICER1):c.4051-1G>A rs1595354013
NM_177438.3(DICER1):c.5123G>A (p.Gly1708Glu) rs886037724
NM_177438.3(DICER1):c.5364+1G>A rs1131691227
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu) rs1060503625
NM_177438.3(DICER1):c.5465A>G (p.Asp1822Gly) rs886037729
PALB2:c.2515-1G>T rs587776417
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.