ClinVar Miner

List of variants reported by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

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ClinVar version:
Total variants: 604
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00029
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) rs74315447 0.00024
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) rs587781722 0.00021
NM_002016.2(FLG):c.94G>T (p.Glu32Ter) rs114733570 0.00021
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_000069.3(CACNA1S):c.1325T>C (p.Val442Ala) rs202217590 0.00010
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp) rs120074190 0.00006
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) rs199472918 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000501.4(ELN):c.1150+1G>A rs727503030 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000335.5(SCN5A):c.3437C>A (p.Thr1146Asn) rs759374610 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000138.5(FBN1):c.1087G>A (p.Gly363Ser) rs363855 0.00004
NM_000138.5(FBN1):c.8308C>T (p.His2770Tyr) rs774658482 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His) rs369482365 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile) rs199472958 0.00003
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter) rs74315369 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200 0.00002
NM_000093.5(COL5A1):c.3605C>T (p.Pro1202Leu) rs1198718473 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000218.3(KCNQ1):c.1882G>A (p.Gly628Ser) rs745990205 0.00002
NM_000218.3(KCNQ1):c.26G>C (p.Arg9Thr) rs1469698360 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000384.3(APOB):c.10519C>T (p.Arg3507Trp) rs754264874 0.00002
NM_000540.3(RYR1):c.10422C>G (p.Asn3474Lys) rs769661588 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.9971T>C (p.Val3324Ala) rs141515745 0.00002
NM_000545.8(HNF1A):c.1274C>T (p.Thr425Met) rs1401743626 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001035.3(RYR2):c.6083G>A (p.Arg2028His) rs1313042151 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_002474.3(MYH11):c.5714G>A (p.Arg1905Gln) rs1443593366 0.00002
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_053025.4(MYLK):c.914C>T (p.Ser305Phe) rs1431655501 0.00002
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) rs587778080 0.00001
NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter) rs80358464 0.00001
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter) rs80358556 0.00001
NM_000059.4(BRCA2):c.4472_4475del (p.Leu1491fs) rs80359452 0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000059.4(BRCA2):c.4821_4822del (p.Glu1608fs) rs769017108 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000069.3(CACNA1S):c.4345G>A (p.Val1449Met) rs542998031 0.00001
NM_000093.5(COL5A1):c.2971G>A (p.Gly991Ser) rs777368013 0.00001
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys) rs867211079 0.00001
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn) rs1406315227 0.00001
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser) rs374520085 0.00001
NM_000169.3(GLA):c.1025G>A (p.Arg342Gln) rs28935493 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_000219.6(KCNE1):c.179G>A (p.Gly60Asp) rs758961135 0.00001
NM_000237.3(LPL):c.929G>A (p.Cys310Tyr) rs1409123950 0.00001
NM_000238.4(KCNH2):c.2054G>A (p.Arg685His) rs758751607 0.00001
NM_000238.4(KCNH2):c.2332G>A (p.Ala778Thr) rs769076001 0.00001
NM_000249.4(MLH1):c.963_1014dup (p.Ser339fs) rs1553648058 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) rs727503166 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln) rs199473623 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000384.3(APOB):c.11288T>C (p.Leu3763Pro) rs1663106152 0.00001
NM_000527.5(LDLR):c.1061-1G>C rs879254774 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314 0.00001
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) rs875989911 0.00001
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000540.3(RYR1):c.13370T>G (p.Met4457Arg) rs1394722307 0.00001
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln) rs772978260 0.00001
NM_000540.3(RYR1):c.4744G>A (p.Glu1582Lys) rs1200734670 0.00001
NM_000540.3(RYR1):c.6139G>C (p.Asp2047His) rs763963516 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000540.3(RYR1):c.9559C>T (p.Arg3187Trp) rs1376794459 0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000548.5(TSC2):c.1004C>T (p.Ser335Phe) rs45517144 0.00001
NM_000548.5(TSC2):c.3815-1G>A rs2090256621 0.00001
NM_000548.5(TSC2):c.4078G>A (p.Glu1360Lys) rs397514997 0.00001
NM_000548.5(TSC2):c.4570-1G>A rs777985056 0.00001
NM_000548.5(TSC2):c.5135C>T (p.Ala1712Val) rs45517394 0.00001
NM_001005242.3(PKP2):c.1069G>A (p.Val357Met) rs766334171 0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297 0.00001
NM_001018005.2(TPM1):c.106A>G (p.Ser36Gly) rs1566936237 0.00001
NM_001035.3(RYR2):c.12557T>C (p.Met4186Thr) rs1224160104 0.00001
NM_001035.3(RYR2):c.1403A>G (p.Glu468Gly) rs1282053556 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.6704+1G>T rs1060500376 0.00001
NM_001127222.2(CACNA1A):c.2905C>G (p.Pro969Ala) rs773766180 0.00001
NM_001127222.2(CACNA1A):c.3364C>T (p.Arg1122Cys) rs774407963 0.00001
NM_001276345.2(TNNT2):c.823C>T (p.Arg275Ter) rs748970759 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_002474.3(MYH11):c.2152C>T (p.Arg718Trp) rs1275950124 0.00001
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys) rs138996609 0.00001
NM_003001.5(SDHC):c.1A>G (p.Met1Val) rs755235380 0.00001
NM_003001.5(SDHC):c.82G>T (p.Val28Phe) rs754818119 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_004415.4(DSP):c.4684T>C (p.Ser1562Pro) rs1394590334 0.00001
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551 0.00001
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) rs772393451 0.00001
NM_007194.4(CHEK2):c.319+1G>A rs765080766 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs) rs80357729 0.00001
NM_007294.4(BRCA1):c.4357+1G>A rs80358027 0.00001
NM_007294.4(BRCA1):c.442-1G>T rs1351019392 0.00001
NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter) rs80357366 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_024422.6(DSC2):c.1781T>C (p.Ile594Thr) rs915888072 0.00001
NM_024422.6(DSC2):c.2206A>G (p.Asn736Asp) rs371950232 0.00001
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_174936.4(PCSK9):c.772A>G (p.Lys258Glu) rs771479424 0.00001
NM_000038.6(APC):c.3766C>T (p.Gln1256Ter) rs77056664
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter) rs1565607653
NM_000051.4(ATM):c.8988-2A>G rs786202087
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1205del (p.Gly402fs) rs397507265
NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter) rs80358428
NM_000059.4(BRCA2):c.1794_1798del rs276174813
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs) rs80359373
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs) rs80359377
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter) rs80358573
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) rs80359391
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter) rs80359429
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer) rs80359459
NM_000059.4(BRCA2):c.4885A>C (p.Thr1629Pro) rs879255455
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5130T>G (p.Tyr1710Ter) rs1566231778
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer) rs80359496
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000059.4(BRCA2):c.6033_6034del (p.Ser2012fs) rs397507823
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.4(BRCA2):c.6206T>G (p.Leu2069Ter) rs80358859
NM_000059.4(BRCA2):c.6842-2A>G rs1555285132
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter) rs276174889
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter) rs397507912
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter) rs80359011
NM_000059.4(BRCA2):c.7977-1G>C rs81002874
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.4(BRCA2):c.8633-1G>A rs398122711
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8915T>A (p.Leu2972Ter) rs80359142
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9257-1G>C rs81002889
NM_000059.4(BRCA2):c.9401del (p.Gly3134fs) rs80359759
NM_000059.4(BRCA2):c.9689del (p.Leu3230fs) rs755175776
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter) rs4987049
NM_000090.4(COL3A1):c.1022C>A (p.Ala341Asp) rs1688217809
NM_000090.4(COL3A1):c.1244C>A (p.Pro415His) rs1408351089
NM_000090.4(COL3A1):c.2588G>A (p.Arg863His) rs755762264
NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys) rs1559061954
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro) rs1588479393
NM_000093.5(COL5A1):c.1060G>A (p.Asp354Asn) rs1834835178
NM_000093.5(COL5A1):c.1111G>A (p.Gly371Ser) rs1834838821
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu) rs900216804
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000138.5(FBN1):c.1313C>T (p.Ser438Phe) rs2043799037
NM_000138.5(FBN1):c.1462T>G (p.Cys488Gly) rs1555400373
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr) rs1597633163
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp) rs1163486953
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val) rs397515806
NM_000169.3(GLA):c.337_354del (p.Phe113_Arg118del) rs2147480442
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs) rs587783056
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3922_3938dup (p.Gln1314fs) rs1670123011
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs) rs267608121
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter) rs397508072
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.425del (p.Leu142fs) rs794728566
NM_000218.3(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000237.3(LPL):c.249+1G>A rs1563569634
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr) rs28928905
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.4(KCNH2):c.245T>C (p.Ile82Thr) rs1563189895
NM_000238.4(KCNH2):c.2870C>T (p.Pro957Leu) rs1800962566
NM_000249.4(MLH1):c.116+1G>A rs267607709
NM_000249.4(MLH1):c.1410-2A>G rs746536721
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.34_46del (p.Leu11_Asp12insTer) rs2080891193
NM_000249.4(MLH1):c.538G>T (p.Val180Phe) rs1559524603
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter) rs63750823
NM_000249.4(MLH1):c.76C>T (p.Gln26Ter) rs63749827
NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter) rs63750396
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1201_1204del (p.Leu401fs) rs1558478567
NM_000251.3(MSH2):c.715C>T (p.Gln239Ter) rs63750488
NM_000256.3(MYBPC3):c.1168del (p.His390fs) rs397515889
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.905+1G>T rs767698543
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000314.8(PTEN):c.179del (p.Lys60fs) rs1114167671
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.491del (p.Lys164fs) rs786204900
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000335.5(SCN5A):c.2335del (p.Gln779fs) rs2061687300
NM_000335.5(SCN5A):c.4553G>A (p.Gly1518Asp) rs1322825102
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) rs137854607
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000368.5(TSC1):c.1891G>A (p.Ala631Thr) rs1845613535
NM_000368.5(TSC1):c.3327G>T (p.Met1109Ile) rs1845043593
NM_000384.3(APOB):c.10072A>C (p.Asn3358His) rs1663155110
NM_000384.3(APOB):c.10147G>A (p.Gly3383Ser) rs1663152041
NM_000384.3(APOB):c.10540G>A (p.Ala3514Thr) rs747633151
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.13320del (p.Glu4441fs) rs750076573
NM_000384.3(APOB):c.9105T>A (p.Asn3035Lys) rs147510760
NM_000455.5(STK11):c.1026G>T (p.Glu342Asp) rs1195673013
NM_000455.5(STK11):c.793dup (p.Glu265fs) rs2080782095
NM_000458.4(HNF1B):c.1282C>T (p.Gln428Ter) rs2032692897
NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp) rs2034119580
NM_000527.4(LDLR):c.-152C>T
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1056_1060+3del rs879254770
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1214_1217dup (p.His407fs) rs2077407494
NM_000527.5(LDLR):c.1284del (p.Asn428fs) rs2077409930
NM_000527.5(LDLR):c.1309G>A (p.Ala437Thr) rs1223171296
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg) rs773566855
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1599G>A (p.Trp533Ter) rs879254952
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro) rs879254968
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1705+1G>A rs875989926
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter) rs875989933
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
NM_000527.5(LDLR):c.195_196insAT (p.Val66fs) rs879254435
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2045T>G (p.Leu682Arg) rs879255119
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.5(LDLR):c.227_233del (p.Gly76fs) rs2147216927
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2444T>A (p.Leu815His) rs2077687532
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter) rs377437226
NM_000527.5(LDLR):c.2547+1G>A rs879255224
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.467del (p.Asn156fs) rs1057516135
NM_000527.5(LDLR):c.482T>A (p.Ile161Asn) rs754933794
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.695-1G>A rs879254652
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.452G>C (p.Arg151Pro) rs35629870
NM_000535.7(PMS2):c.457del (p.Arg153fs) rs1785207289
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.873del (p.Phe291fs) rs1261282733
NM_000535.7(PMS2):c.989-1G>T rs587780064
NM_000540.3(RYR1):c.10477C>T (p.Arg3493Cys) rs750367227
NM_000540.3(RYR1):c.12024G>C (p.Gln4008His) rs1972429144
NM_000540.3(RYR1):c.1291G>A (p.Ala431Thr) rs768357333
NM_000540.3(RYR1):c.1440+2T>G rs1555767403
NM_000540.3(RYR1):c.14647-3_14647del rs1568611362
NM_000540.3(RYR1):c.3526A>G (p.Thr1176Ala) rs1968278835
NM_000540.3(RYR1):c.5318C>G (p.Pro1773Arg) rs1969269453
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met) rs746971794
NM_000545.8(HNF1A):c.1731C>A (p.His577Gln) rs1877319456
NM_000545.8(HNF1A):c.864_897del (p.Pro290fs) rs1565885935
NM_000546.6(TP53):c.272G>A (p.Trp91Ter) rs2073465664
NM_000546.6(TP53):c.365_366del (p.Val122fs) rs587780067
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.455dup (p.Pro153fs) rs730882019
NM_000546.6(TP53):c.560-1G>C rs1202793339
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.892G>T (p.Glu298Ter) rs201744589
NM_000548.5(TSC2):c.1184G>A (p.Cys395Tyr) rs1026632436
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1866_1870dup (p.Asp624fs) rs2088388374
NM_000551.4(VHL):c.551T>C (p.Leu184Pro) rs1064793878
NM_000702.4(ATP1A2):c.2809del (p.Arg937fs) rs1651974671
NM_000891.3(KCNJ2):c.102G>T (p.Lys34Asn) rs1476737505
NM_000891.3(KCNJ2):c.794C>T (p.Ser265Phe) rs1598211406
NM_000937.5(POLR2A):c.1314_1319del (p.His439_Leu440del) rs2070546216
NM_000937.5(POLR2A):c.323G>A (p.Arg108His) rs762784138
NM_000937.5(POLR2A):c.3275C>T (p.Ala1092Val) rs2070664416
NM_000937.5(POLR2A):c.3281C>T (p.Ser1094Phe) rs775858617
NM_000937.5(POLR2A):c.3407C>T (p.Thr1136Ile) rs2070665204
NM_000937.5(POLR2A):c.3752A>G (p.Asn1251Ser) rs2070680579
NM_000937.5(POLR2A):c.418C>T (p.Arg140Trp) rs1329988533
NM_000937.5(POLR2A):c.4252G>A (p.Gly1418Arg) rs2070711917
NM_000937.5(POLR2A):c.5440_5441del (p.Gln1814fs) rs778071890
NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg) rs1388837601
NM_000937.5(POLR2A):c.89A>T (p.Glu30Val) rs2070399240
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.1511del (p.Gly504fs) rs794729137
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.275T>A (p.Leu92Ter) rs763639737
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter) rs760576804
NM_001005242.3(PKP2):c.623del (p.Thr208fs) rs794729122
NM_001005242.3(PKP2):c.985A>G (p.Ser329Gly) rs779173447
NM_001035.3(RYR2):c.4895T>A (p.Ile1632Asn) rs1373346977
NM_001035.3(RYR2):c.5507A>G (p.Asn1836Ser) rs1678261343
NM_001035.3(RYR2):c.6656G>T (p.Ser2219Ile) rs774615963
NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter) rs868450405
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.4985G>A (p.Trp1662Ter) rs1567611375
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001083603.3(PTCH1):c.93C>G (p.Tyr31Ter) rs756069384
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter) rs1568473171
NM_001244008.2(KIF1A):c.813CAA[1] (p.Asn272del) rs2054280202
NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter) rs1212204584
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) rs121964858
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001370259.2(MEN1):c.1639G>A (p.Glu547Lys) rs1941508162
NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs) rs1114167510
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001371928.1(AHDC1):c.1446del (p.Val483fs) rs2148286122
NM_001371928.1(AHDC1):c.1759C>T (p.Arg587Ter) rs886041620
NM_001371928.1(AHDC1):c.1945del (p.Ala649fs) rs796065042
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001371928.1(AHDC1):c.2188G>T (p.Glu730Ter) rs2019433712
NM_001371928.1(AHDC1):c.2229del (p.Ser744fs) rs886039900
NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs) rs587779766
NM_001371928.1(AHDC1):c.2415del (p.Leu806fs) rs2148277718
NM_001371928.1(AHDC1):c.2473C>T (p.Gln825Ter) rs2148277199
NM_001371928.1(AHDC1):c.2520del (p.Arg841fs) rs2148276974
NM_001371928.1(AHDC1):c.2644C>T (p.Gln882Ter) rs1297310572
NM_001371928.1(AHDC1):c.2691del (p.Val898fs) rs886041676
NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter) rs777736953
NM_001371928.1(AHDC1):c.2849del (p.Pro950fs) rs2148273933
NM_001371928.1(AHDC1):c.2898del (p.Tyr967fs) rs587779767
NM_001371928.1(AHDC1):c.2908C>T (p.Gln970Ter) rs886041781
NM_001371928.1(AHDC1):c.2932C>T (p.Gln978Ter) rs2148272898
NM_001371928.1(AHDC1):c.3204C>G (p.Tyr1068Ter) rs1036650716
NM_001371928.1(AHDC1):c.3466C>T (p.Gln1156Ter) rs1557658942
NM_001371928.1(AHDC1):c.3773C>G (p.Ser1258Ter) rs2148265222
NM_001371928.1(AHDC1):c.3809del (p.Gln1270fs) rs796065041
NM_001371928.1(AHDC1):c.3989C>A (p.Ser1330Ter) rs199659346
NM_001371928.1(AHDC1):c.4438del (p.Glu1480fs) rs2148258069
NM_001371928.1(AHDC1):c.643dup (p.Ser215fs) rs2148293420
NM_001371928.1(AHDC1):c.784C>T (p.Gln262Ter) rs2148292413
NM_001371928.1(AHDC1):c.979C>T (p.Gln327Ter) rs1553159753
NM_001613.4(ACTA2):c.691A>G (p.Thr231Ala) rs1845811593
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) rs1375081885
NM_001943.5(DSG2):c.2817del (p.Tyr940fs) rs1567934773
NM_001943.5(DSG2):c.2857del (p.Leu953fs) rs2073308127
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_002474.3(MYH11):c.1042A>C (p.Lys348Gln) rs2041924034
NM_002474.3(MYH11):c.2308T>C (p.Phe770Leu) rs571704734
NM_002474.3(MYH11):c.4613A>C (p.Glu1538Ala) rs1343964791
NM_002734.5(PRKAR1A):c.565_566insC (p.Glu189fs) rs2143321666
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter) rs1672294906
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His) rs104893816
NM_003242.6(TGFBR2):c.835T>C (p.Phe279Leu) rs746824357
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro) rs1567311288
NM_003361.4(UMOD):c.774G>C (p.Trp258Cys) rs1567309582
NM_004168.4(SDHA):c.2T>G (p.Met1Arg) rs750380279
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004168.4(SDHA):c.944dup (p.Gly316fs) rs1579402180
NM_004304.5(ALK):c.4298_4299del (p.Glu1433fs) rs1668950344
NM_004329.3(BMPR1A):c.1533del (p.Arg511fs) rs1843700160
NM_004415.4(DSP):c.2894T>C (p.Leu965Pro) rs1581813405
NM_004415.4(DSP):c.3725T>C (p.Leu1242Pro) rs1759365693
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro) rs1554108296
NM_004415.4(DSP):c.6166G>C (p.Gly2056Arg) rs780274878
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu) rs768837509
NM_004415.4(DSP):c.71C>G (p.Pro24Arg) rs978383808
NM_005188.4(CBL):c.1495C>T (p.Arg499Ter) rs778927765
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_006231.4(POLE):c.3757G>A (p.Glu1253Lys) rs1184564186
NM_007194.4(CHEK2):c.1134del (p.Ser379fs) rs1569114113
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.468C>G (p.Tyr156Ter) rs1555926996
NM_007194.4(CHEK2):c.494del (p.Gly165fs) rs1569157733
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter) rs886039609
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.971del (p.Cys324fs) rs1569121172
NM_007294.4(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer) rs80357969
NM_007294.4(BRCA1):c.1556del (p.Lys519fs) rs80357662
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs) rs80357567
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter) rs80357086
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) rs80357526
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.2744_2745del (p.Glu914_Ser915insTer) rs80357540
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs) rs80357829
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs) rs80357749
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter) rs80357136
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.4(BRCA1):c.3664G>T (p.Glu1222Ter) rs80357356
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs) rs80357579
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter) rs80356974
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_015335.5(MED13L):c.263G>A (p.Trp88Ter) rs1870202051
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) rs77316810
NM_020975.6(RET):c.3222dup (p.Val1075fs) rs1838374810
NM_024334.3(TMEM43):c.1019T>C (p.Phe340Ser) rs1559363663
NM_024334.3(TMEM43):c.1147G>A (p.Ala383Thr) rs1695250482
NM_024422.6(DSC2):c.1281A>C (p.Glu427Asp) rs1238451971
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.637G>A (p.Ala213Thr) rs1987456031
NM_024426.6(WT1):c.1142del (p.Pro381fs) rs1564972993
NM_024426.6(WT1):c.52G>C (p.Ala18Pro) rs1590411684
NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs) rs1555461488
NM_024675.4(PALB2):c.1299G>T (p.Leu433Phe) rs1966978476
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.2120del (p.Pro707fs) rs587780210
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.4(PALB2):c.228_229del (p.Ile76fs) rs1555461870
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs) rs747148023
NM_024675.4(PALB2):c.2515-1G>A rs587776417
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2748+1G>T rs753153576
NM_024675.4(PALB2):c.2974_2975del (p.Met992fs) rs1966798806
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_024675.4(PALB2):c.347T>A (p.Leu116Ter) rs876660465
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_053025.4(MYLK):c.2390+1G>C rs762794821
NM_053025.4(MYLK):c.4834C>A (p.Leu1612Met) rs1309391189
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro) rs61661343
NM_174936.4(PCSK9):c.467G>A (p.Trp156Ter) rs1557500768
NM_174936.4(PCSK9):c.468G>A (p.Trp156Ter) rs1557500771
NM_174936.4(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_177438.3(DICER1):c.1174C>T (p.Arg392Ter) rs1131691211
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter) rs878855246
Single allele

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