ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Ambry Genetics and "likely pathogenic" from any submitter

Minimum review status of the submission from Ambry Genetics: Collection method of the submission from Ambry Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 883
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_000251.3(MSH2):c.942+2T>A rs587779195 0.00101
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) rs146347092 0.00026
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) rs137852991 0.00013
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_181426.2(CCDC39):c.610-2A>G rs756235547 0.00009
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962 0.00008
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter) rs200693106 0.00006
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter) rs926347298 0.00004
NM_017849.4(TMEM127):c.245-1G>C rs121908821 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_005431.2(XRCC2):c.190C>T (p.Arg64Ter) rs151110146 0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450 0.00003
NM_015450.3(POT1):c.1071dup (p.Gln358fs) rs750470470 0.00003
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 0.00003
NM_000051.4(ATM):c.3993+1G>A rs200196781 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000335.5(SCN5A):c.845G>A (p.Arg282His) rs199473083 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro) rs139573311 0.00002
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter) rs749890642 0.00002
NM_001365276.2(TNXB):c.6293dup (p.Glu2100fs) rs764867655 0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter) rs747900131 0.00002
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002528.7(NTHL1):c.115+1G>A rs749908882 0.00002
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_005732.4(RAD50):c.3715C>T (p.Arg1239Ter) rs876658770 0.00002
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) rs587782070 0.00002
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686 0.00001
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp) rs1085307405 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.3078-1G>A rs750663117 0.00001
NM_000051.4(ATM):c.4437-1G>C rs759520465 0.00001
NM_000051.4(ATM):c.6347+1G>A rs1057517120 0.00001
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter) rs1131691162 0.00001
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser) rs748634900 0.00001
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter) rs587781597 0.00001
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro) rs587782202 0.00001
NM_000051.4(ATM):c.8584+2T>C rs730881326 0.00001
NM_000051.4(ATM):c.8786+1G>T rs17174393 0.00001
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045 0.00001
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000077.5(CDKN2A):c.104G>C (p.Gly35Ala) rs746834149 0.00001
NM_000077.5(CDKN2A):c.458-105A>G rs1060501266 0.00001
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn) rs794728204 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000218.3(KCNQ1):c.1032+1G>A rs397508070 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys) rs199472713 0.00001
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) rs120074194 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_000237.3(LPL):c.701C>T (p.Pro234Leu) rs118204060 0.00001
NM_000237.3(LPL):c.829G>A (p.Asp277Asn) rs118204068 0.00001
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.207+1G>A rs267607718 0.00001
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020 0.00001
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) rs727503166 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly) rs727504239 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000371.4(TTR):c.130C>T (p.Pro44Ser) rs11541790 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_000465.4(BARD1):c.1205C>G (p.Ser402Ter) rs796666047 0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg) rs397508310 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter) rs374946172 0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.4242+1G>T rs372227120 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) rs121908802 0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1061-1G>C rs879254774 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314 0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.538-1G>C rs988423880 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) rs112431538 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001048174.2(MUTYH):c.1102+1G>A rs587781337 0.00001
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp) rs587781864 0.00001
NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter) rs745921592 0.00001
NM_001048174.2(MUTYH):c.606G>A (p.Gln202=) rs199989617 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) rs727505284 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001365276.2(TNXB):c.7826-1G>C rs200357005 0.00001
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.832del (p.Ala278fs) rs727502977 0.00001
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter) rs560398270 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter) rs1198051503 0.00001
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_002439.5(MSH3):c.237+2T>C rs1480047980 0.00001
NM_002439.5(MSH3):c.978_984del (p.Phe326fs) rs1475633334 0.00001
NM_002485.5(NBN):c.171+3A>G rs1487002693 0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) rs730881857 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002878.4(RAD51D):c.442C>T (p.Gln148Ter) rs773906955 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter) rs141019458 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956 0.00001
NM_004415.4(DSP):c.4518del (p.Arg1506fs) rs1289037294 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_006073.4(TRDN):c.541G>T (p.Glu181Ter) rs1198103383 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1260-8A>G rs863224747 0.00001
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter) rs1064793817 0.00001
NM_007272.3(CTRC):c.494-1G>C rs766917452 0.00001
NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg) rs80356880 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter) rs993687029 0.00001
NM_020778.5(ALPK3):c.835G>T (p.Glu279Ter) rs370072439 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter) rs575595017 0.00001
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574 0.00001
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys) rs121908258 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_170784.3(MKKS):c.251_252del (p.His84fs) rs756259125 0.00001
NM_000020.3(ACVRL1):c.1048+1G>A rs2139074368
NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val) rs1555153277
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter) rs1555154144
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter) rs2139068677
NM_000020.3(ACVRL1):c.626-3C>G rs1555152899
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.3084T>A (p.Ser1028Arg) rs876660265
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000038.6(APC):c.503del (p.Arg168fs) rs2149615791
NM_000038.6(APC):c.7489dup (p.Ser2497fs) rs1409414498
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1898+1G>T rs758325274
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.289del (p.Ile97fs) rs878853497
NM_000051.4(ATM):c.2921+1G>C rs587781558
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.331+1G>A rs1555055356
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.4110-1G>A rs1060501692
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.4776+1G>T rs771117943
NM_000051.4(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.4776+2_4776+13del rs762838462
NM_000051.4(ATM):c.4879del (p.Gln1627fs) rs2135837254
NM_000051.4(ATM):c.495_496+16del rs1555059522
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.497-2661A>G rs1591491477
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5184dup (p.Val1729fs) rs1555105588
NM_000051.4(ATM):c.5319+2T>C rs1555105842
NM_000051.4(ATM):c.5497-2A>G rs786203796
NM_000051.4(ATM):c.5762+1G>T rs869312756
NM_000051.4(ATM):c.6082del (p.Gln2028fs) rs1565499093
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter) rs1555114737
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.4(ATM):c.72+2T>C rs1591446206
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter) rs1555137973
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.8988-2A>G rs786202087
NM_000051.4(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.4(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000051.4(ATM):c.901+1G>T rs748840480
NM_000051.4(ATM):c.901+2T>C rs1218815157
NM_000051.4(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000051.4(ATM):c.9064dup (p.Glu3022fs) rs1057516282
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter) rs2091249987
NM_000057.4(BLM):c.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.320dup (p.Leu107fs) rs781221411
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter) rs1596267627
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs) rs397507698
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6535_6536insA (p.Val2179fs) rs80359601
NM_000059.4(BRCA2):c.6681dup (p.Val2228fs) rs1555284790
NM_000059.4(BRCA2):c.6884_6888del (p.Arg2295fs) rs1566236904
NM_000059.4(BRCA2):c.7008-2A>T rs81002823
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.4(BRCA2):c.7717_7718del (p.Leu2573fs) rs2137567005
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.7976+5G>A rs786201180
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000059.4(BRCA2):c.8332-1G>T rs397507979
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro) rs80359161
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val) rs80359187
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs) rs886040850
NM_000059.4(BRCA2):c.9808del (p.Ala3270fs) rs398122622
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr) rs786204195
NM_000077.5(CDKN2A):c.194T>C (p.Leu65Pro) rs1587332314
NM_000089.4(COL1A2):c.2965_2973dup (p.Pro989_Gly991dup) rs1554398396
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg) rs113485686
NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter) rs1393544920
NM_000090.4(COL3A1):c.997-1G>C rs587779687
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) rs113905529
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter) rs1555394142
NM_000143.4(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.4(FH):c.703C>T (p.His235Tyr) rs863223968
NM_000162.5(GCK):c.295del (p.Trp99fs) rs1554335752
NM_000162.5(GCK):c.364-1G>A rs1057521094
NM_000162.5(GCK):c.393del (p.Asp132fs) rs193922295
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) rs144723656
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) rs1064793600
NM_000179.3(MSH6):c.171del (p.Arg58fs) rs1553408306
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter) rs1558666177
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs) rs878853729
NM_000179.3(MSH6):c.3172+1G>T rs587779255
NM_000179.3(MSH6):c.3379_3438+5del rs1553331676
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys) rs587779264
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.3(MSH6):c.3647-1G>C rs587779279
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.3(MSH6):c.3798_3801+9del rs1553333168
NM_000179.3(MSH6):c.3999dup (p.Arg1334fs) rs863225418
NM_000179.3(MSH6):c.458-1G>A rs267608035
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.3(KCNQ1):c.1250dup (p.Val418fs) rs2133758591
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter) rs794728527
NM_000218.3(KCNQ1):c.1394-1G>T rs775537394
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.3(KCNQ1):c.1686del rs794728562
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr) rs199472805
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs) rs2133992401
NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs) rs763462603
NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter) rs530612385
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756
NM_000238.4(KCNH2):c.1139del (p.Leu380fs) rs1563161538
NM_000238.4(KCNH2):c.1293C>A (p.Phe431Leu) rs199472900
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter) rs1064794793
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter) rs1800975855
NM_000238.4(KCNH2):c.2762del (p.Gly921fs) rs1584845263
NM_000238.4(KCNH2):c.2766del (p.Pro923fs) rs1554424403
NM_000238.4(KCNH2):c.2785dup (p.Glu929fs) rs794728458
NM_000238.4(KCNH2):c.2892dup (p.Gly965fs) rs794728462
NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs) rs1554424091
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs) rs1800940404
NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs) rs794728466
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs) rs1800937691
NM_000249.4(MLH1):c.-27C>A rs587779001
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.1409+1G>T rs267607825
NM_000249.4(MLH1):c.1667+1G>A rs1434898623
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1668-2A>C rs1559578422
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.4(MLH1):c.188A>T (p.Asp63Val) rs1064795693
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu) rs63749900
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.1989+5G>A rs267607878
NM_000249.4(MLH1):c.1990-1G>C rs267607884
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2041G>C (p.Ala681Pro) rs63750217
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter) rs550890395
NM_000249.4(MLH1):c.208-3C>G rs267607720
NM_000249.4(MLH1):c.2103+3A>G rs587778976
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.381-1G>C rs267607744
NM_000249.4(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.589-1G>A rs587779027
NM_000249.4(MLH1):c.589-1G>T rs587779027
NM_000249.4(MLH1):c.677+1G>A rs267607778
NM_000249.4(MLH1):c.677+1G>C rs267607778
NM_000249.4(MLH1):c.677+5G>A rs587779034
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.678-2A>G rs587779035
NM_000249.4(MLH1):c.816del (p.Arg273fs) rs2125837110
NM_000249.4(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.4(MLH1):c.884+1G>A rs1553646764
NM_000249.4(MLH1):c.884+3A>G rs267607803
NM_000251.3(MSH2):c.1077-1G>C rs267607944
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1319T>C (p.Leu440Pro) rs587779084
NM_000251.3(MSH2):c.1386+2T>C rs1675076969
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.2006-1G>T rs267607988
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000251.3(MSH2):c.2074G>A (p.Gly692Arg) rs63750232
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2458+1G>A rs267608010
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.366+1G>A rs267607924
NM_000251.3(MSH2):c.646-3T>G rs267607930
NM_000251.3(MSH2):c.793-1G>A rs863225397
NM_000251.3(MSH2):c.942+1G>T rs587779193
NM_000251.3(MSH2):c.943-2A>G rs587779198
NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter) rs730880631
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs) rs730880724
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.2334del (p.Lys779fs) rs1057518030
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.373_374del (p.Ala124_Ala125insTer) rs1057517767
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter) rs730880604
NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter) rs730880704
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu) rs121913624
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu) rs2069544
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)
NM_000268.4(NF2):c.599+1G>A rs1555993352
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000335.5(SCN5A):c.1338+2T>A rs786204839
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs) rs756159737
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter) rs1553695282
NM_000363.5(TNNI3):c.523C>T (p.Gln175Ter) rs876661394
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000371.4(TTR):c.193G>A (p.Ala65Thr) rs121918078
NM_000371.4(TTR):c.221A>G (p.Glu74Gly) rs1598845097
NM_000371.4(TTR):c.325G>A (p.Glu109Lys) rs121918082
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000455.5(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000465.4(BARD1):c.1872del (p.Leu625fs) rs876659572
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) rs587782504
NM_000465.4(BARD1):c.2015_2016dup (p.Asp673fs) rs1559372682
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs) rs786203811
NM_000465.4(BARD1):c.298C>T (p.Gln100Ter) rs786201912
NM_000465.4(BARD1):c.740del (p.Ser247fs) rs2106110712
NM_000465.4(BARD1):c.858dup (p.Glu287fs) rs1553622397
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter) rs2115882158
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter) rs766063304
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter) rs1799425190
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.4(CFTR):c.1680-1G>C rs121908794
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter) rs397508273
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.4(CFTR):c.2203del (p.Arg735fs) rs397508351
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter) rs397508412
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter) rs1408746819
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.4(CFTR):c.2816A>G (p.His939Arg) rs397508440
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
NM_000492.4(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter) rs397508496
NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter) rs150020260
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3368-2A>T rs755416052
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.4(CFTR):c.3873+2T>C rs146795445
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup) rs397508686
NM_000492.4(CFTR):c.49_50del (p.Phe17fs)
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.4(CFTR):c.772del (p.Arg258fs)
NM_000492.4(CFTR):c.811del (p.Ser271fs) rs1554380789
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter) rs397508799
NM_000492.4(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1808dup (p.Arg604fs) rs1555806526
NM_000527.5(LDLR):c.1922T>A (p.Leu641Ter) rs2077524952
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter) rs879255212
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.5(LDLR):c.467del (p.Asn156fs) rs1057516135
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg) rs879254540
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup) rs879254620
NM_000527.5(LDLR):c.681C>A (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.779_782del (p.Asp260fs) rs1600713742
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs) rs1554294508
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.163+1G>A rs1064795705
NM_000535.7(PMS2):c.24-1G>A rs1785723689
NM_000535.7(PMS2):c.2T>G (p.Met1Arg) rs587780059
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000535.7(PMS2):c.705+1G>A rs267608147
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs) rs1593060890
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.130del (p.Leu44fs) rs193922578
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter) rs1876084046
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs) rs1593058932
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro) rs375338359
NM_000546.6(TP53):c.298C>T (p.Gln100Ter) rs1567555994
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.375+1dup rs1555526470
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.6(TP53):c.434T>A (p.Leu145Gln) rs587782197
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.469G>T (p.Val157Phe) rs121912654
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.6(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.6(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.6(TP53):c.524G>T (p.Arg175Leu) rs28934578
NM_000546.6(TP53):c.530C>G (p.Pro177Arg) rs751477326
NM_000546.6(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.6(TP53):c.542G>C (p.Arg181Pro) rs397514495
NM_000546.6(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.6(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.672G>A (p.Glu224=) rs267605076
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys) rs730882026
NM_000546.6(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) rs1567549584
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.6(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.827C>A (p.Ala276Asp) rs786202082
NM_000546.6(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.6(TP53):c.949C>T (p.Gln317Ter) rs764735889
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg) rs386352319
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter) rs786204393
NM_001005242.3(PKP2):c.144_165del (p.Gln49fs) rs930283260
NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs) rs1555142963
NM_001005242.3(PKP2):c.190dup (p.Leu64fs) rs762288961
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) rs786204388
NM_001010874.5(TECRL):c.586C>T (p.Arg196Ter)
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001042492.3(NF1):c.1063-13G>A rs1131691066
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
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.3942G>A (p.Trp1314Ter) rs2067194816
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro) rs1060501335
NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg) rs730881832
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter) rs587781295
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_001048174.2(MUTYH):c.834C>G (p.Cys278Trp) rs730881834
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter) rs1564301594
NM_001114753.3(ENG):c.1311G>C (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1428+1G>A rs863223542
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.1657del (p.Leu553fs) rs1064794218
NM_001114753.3(ENG):c.360+5G>C rs1060501417
NM_001114753.3(ENG):c.895del (p.Leu299fs) rs1064795636
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter) rs1588354762
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer) rs794729323
NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter) rs571702144
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72826dup (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.90587del (p.Lys30196fs) rs397517749
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs) rs769488730
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter) rs780414947
NM_001267550.2(TTN):c.99063del (p.Lys33021fs) rs1445687820
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) rs727503513
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) rs727503512
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001365276.2(TNXB):c.3290_3291del (p.Lys1097fs) rs764070148
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs) rs886044697
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer) rs1554090622
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs) rs748709116
NM_001379081.2(FREM1):c.2097_2100del (p.Lys699fs) rs769407804
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter) rs770606675
NM_001458.5(FLNC):c.3934_3937dup (p.Arg1313fs) rs1554399513
NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter) rs766330686
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter) rs1562998062
NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter) rs1562999451
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs) rs1402879259
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter) rs1563000044
NM_001458.5(FLNC):c.6190dup (p.Val2064fs) rs1808888920
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) rs112602953
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001943.4(DSG2):c.1015del rs794728094
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_002294.3(LAMP2):c.1075C>T (p.Gln359Ter) rs1057517940
NM_002439.5(MSH3):c.1256C>G (p.Ser419Ter) rs578113271
NM_002439.5(MSH3):c.1625dup (p.Leu542fs) rs775863622
NM_002439.5(MSH3):c.1736G>A (p.Trp579Ter) rs2112868963
NM_002439.5(MSH3):c.2760del (p.Tyr921fs) rs751326348
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.5(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.83_89del (p.Arg28fs) rs1554569106
NM_002485.5(NBN):c.872dup (p.Ser292fs) rs1563559078
NM_002528.7(NTHL1):c.211dup (p.Ala71fs) rs745671590
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro) rs587777627
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr) rs121918463
NM_002878.4(RAD51D):c.131_144+24del rs1064795716
NM_002878.4(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu) rs561425038
NM_002878.4(RAD51D):c.2dup (p.Met1fs) rs772306012
NM_002878.4(RAD51D):c.547C>T (p.Gln183Ter) rs587782695
NM_002878.4(RAD51D):c.772_778del (p.Gly258fs) rs1064795045
NM_003000.3(SDHB):c.72+1G>T rs587782703
NM_003002.4(SDHD):c.445_448dup (p.Cys150fs) rs2135277783
NM_003072.5(SMARCA4):c.3229C>T (p.Arg1077Ter) rs2146541571
NM_003238.6(TGFB2):c.450_451del (p.Arg150fs)
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln) rs1057521150
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.2862dup (p.Glu955Ter) rs2147086302
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter) rs1554000360
NM_004168.4(SDHA):c.667del (p.Asp223fs) rs587782077
NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter) rs876661342
NM_004281.4(BAG3):c.72dup (p.Gly25fs) rs727502897
NM_004329.3(BMPR1A):c.1A>C (p.Met1Leu) rs786203157
NM_004329.3(BMPR1A):c.676-1G>A rs1554890734
NM_004360.5(CDH1):c.1008+1G>A rs1960844889
NM_004360.5(CDH1):c.1565+1G>T rs587780113
NM_004360.5(CDH1):c.1565+2_1565+3insTT rs1555516200
NM_004360.5(CDH1):c.1565+2dup rs1555516200
NM_004360.5(CDH1):c.1711+2_1711+7del rs786203089
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln) rs1060501244
NM_004360.5(CDH1):c.2296-2A>G rs876660393
NM_004360.5(CDH1):c.377dup (p.Pro127fs) rs1060501215
NM_004360.5(CDH1):c.687+1G>C rs1567504977
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.5(CDH1):c.832+1G>A rs878854697
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004415.4(DSP):c.4153_4156del (p.Glu1385fs) rs1759385935
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter) rs1060500610
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) rs794727637
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005732.4(RAD50):c.3779del (p.Arg1260fs) rs786202259
NM_005902.4(SMAD3):c.1166_1167del (p.Val389fs) rs1595965925
NM_007194.4(CHEK2):c.1164del (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) rs1131691045
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter) rs1555915433
NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser) rs80357164
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.4(BRCA1):c.2857del (p.Cys953fs) rs397509019
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.3475del (p.Glu1158_Ile1159insTer) rs1555587638
NM_007294.4(BRCA1):c.3888_3889del (p.Ser1297fs) rs886038027
NM_007294.4(BRCA1):c.4116_4117del (p.Cys1372_Glu1373delinsTer) rs80357804
NM_007294.4(BRCA1):c.4357+1G>C rs80358027
NM_007294.4(BRCA1):c.4357+2T>G rs80358152
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+4A>C rs80358087
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala) rs80356890
NM_007294.4(BRCA1):c.5152+2T>C rs886040914
NM_007294.4(BRCA1):c.5152+5G>A rs80358165
NM_007294.4(BRCA1):c.5152+6T>C rs80358074
NM_007294.4(BRCA1):c.5194-2A>G rs80358069
NM_007294.4(BRCA1):c.5200T>A (p.Phe1734Ile) rs80356957
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly) rs45553935
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.4(BRCA1):c.5277+1del rs273901754
NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs) rs587781825
NM_007294.4(BRCA1):c.5333-1G>C rs80358126
NM_007294.4(BRCA1):c.5333-2A>T rs397509264
NM_007294.4(BRCA1):c.5333-6T>G rs397509266
NM_007294.4(BRCA1):c.5406+4A>G rs397509279
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.4(BRCA1):c.5467+1_5467+16del rs2152760370
NM_007294.4(BRCA1):c.547+1G>T rs80358030
NM_007294.4(BRCA1):c.671-2A>C rs80358108
NM_007294.4(BRCA1):c.80+1G>A rs80358010
NM_007294.4(BRCA1):c.80+5G>T rs80358045
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr) rs368248592
NM_014908.4(DOLK):c.2T>C (p.Met1Thr) rs587777137
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs) rs777315336
NM_020778.5(ALPK3):c.423del rs1555434555
NM_020778.5(ALPK3):c.4391del (p.Asn1464fs) rs1450218521
NM_020778.5(ALPK3):c.61_62delinsT (p.Gly21fs)
NM_022436.3(ABCG5):c.575del (p.Gly192fs) rs762031825
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_024675.4(PALB2):c.1156del (p.Thr386fs) rs1597096949
NM_024675.4(PALB2):c.1317dup (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1706_1707del (p.Lys569fs) rs1060502759
NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter) rs1567217898
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter) rs1555460445
NM_024675.4(PALB2):c.2585del (p.Lys862fs) rs752513498
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter) rs1218512317
NM_024675.4(PALB2):c.3350+4A>G rs180177136
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter) rs2145242325
NM_032043.3(BRIP1):c.205+1del rs1057517648
NM_032043.3(BRIP1):c.2576-1G>A rs587782539
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs) rs1555616143
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs) rs1567878148
NM_032043.3(BRIP1):c.942del (p.His314fs) rs2077993152
NM_058216.3(RAD51C):c.145+1G>T rs757128712
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser) rs767796996
NM_144997.7(FLCN):c.1584del (p.Glu530fs) rs1131690827
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly) rs58327533
NM_175914.5(HNF4A):c.498T>A (p.Cys166Ter) rs1555815393
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386

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.