ClinVar Miner

List of variants reported as pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3963
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00995
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_000251.3(MSH2):c.942+2T>A rs587779195 0.00101
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000518.5(HBB):c.-79A>G rs34598529 0.00091
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro) rs200005406 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
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_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000518.5(HBB):c.-138C>T rs33944208 0.00021
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592 0.00016
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 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_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784 0.00007
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933 0.00007
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409 0.00007
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952 0.00006
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr) rs75549581 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000517.6(HBA2):c.60del (p.His21fs) rs886041399 0.00006
NM_000517.6(HBA2):c.69del (p.Glu24fs) rs1270810159 0.00006
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) rs61750595 0.00006
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601 0.00006
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321 0.00006
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101 0.00005
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp) rs61749402 0.00005
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs) rs80359505 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter) rs587781948 0.00004
NM_000492.4(CFTR):c.1766+1G>A rs121908748 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_000492.4(CFTR):c.2988G>A (p.Gln996=) rs121908797 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser) rs72552758 0.00004
NM_000517.6(HBA2):c.163C>T (p.Gln55Ter) rs281864840 0.00004
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751 0.00004
NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter) rs138775799 0.00004
NM_001048174.2(MUTYH):c.305-1G>C rs372267274 0.00004
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs) rs80359395 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.9097_9098insT (p.Thr3033fs) rs1555288494 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000143.4(FH):c.698G>A (p.Arg233His) rs121913123 0.00003
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575 0.00003
NM_000277.3(PAH):c.60+5G>T rs62514895 0.00003
NM_000277.3(PAH):c.745C>T (p.Leu249Phe) rs74503222 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) rs121908805 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter) rs79633941 0.00003
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 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_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs) rs1004027979 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs) rs80357914 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228 0.00003
NM_032043.3(BRIP1):c.2492+2dup rs587780240 0.00003
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000 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_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 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_000277.3(PAH):c.809G>A (p.Arg270Lys) rs62514950 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.1682C>A (p.Ala561Glu) rs121909047 0.00002
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter) rs77284892 0.00002
NM_000492.4(CFTR):c.274-1G>A rs121908792 0.00002
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter) rs78802634 0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) rs80282562 0.00002
NM_000492.4(CFTR):c.579+3A>G rs397508761 0.00002
NM_000517.6(HBA2):c.*92A>G rs63750067 0.00002
NM_000517.6(HBA2):c.95+1G>A rs63750158 0.00002
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489 0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955 0.00002
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001048174.2(MUTYH):c.49del (p.Ala17fs) rs587781704 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_002528.7(NTHL1):c.115+1G>A rs749908882 0.00002
NM_002878.4(RAD51D):c.363del (p.Ala122fs) rs730881935 0.00002
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter) rs587781756 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs) rs750616657 0.00002
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 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_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter) rs775171520 0.00002
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495 0.00002
NM_032043.3(BRIP1):c.633del (p.Gly212fs) rs779466229 0.00002
NM_058216.3(RAD51C):c.837+1G>A rs760235677 0.00002
NM_000016.6(ACADM):c.1055A>G (p.Tyr352Cys) rs1227800781 0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000016.6(ACADM):c.946-2A>C rs758753966 0.00001
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780 0.00001
NM_000038.6(APC):c.1333C>T (p.Gln445Ter) rs876658802 0.00001
NM_000038.6(APC):c.2795C>A (p.Ser932Ter) rs878853432 0.00001
NM_000038.6(APC):c.3149del (p.Ala1050fs) rs730882135 0.00001
NM_000038.6(APC):c.5038C>T (p.Gln1680Ter) rs754122018 0.00001
NM_000038.6(APC):c.646C>T (p.Arg216Ter) rs62619935 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter) rs876658740 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024 0.00001
NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter) rs80358464 0.00001
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter) rs397507634 0.00001
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000059.4(BRCA2):c.2957_2958insG (p.Asn986fs) rs1555282969 0.00001
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg) rs80358547 0.00001
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter) rs80358556 0.00001
NM_000059.4(BRCA2):c.3158T>G (p.Leu1053Ter) rs41293477 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.3450dup (p.Ile1151fs) rs397507668 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter) rs80358648 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.4689G>A (p.Trp1563Ter) rs886038108 0.00001
NM_000059.4(BRCA2):c.4691dup (p.Thr1566fs) rs786204209 0.00001
NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter) rs80358711 0.00001
NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs) rs80359490 0.00001
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) rs80359541 0.00001
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.5992C>T (p.Gln1998Ter) rs397507819 0.00001
NM_000059.4(BRCA2):c.631+2T>G rs81002899 0.00001
NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs) rs80359616 0.00001
NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter) rs80358946 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 0.00001
NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter) rs80359003 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs) rs80359705 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs) rs80359718 0.00001
NM_000059.4(BRCA2):c.880G>T (p.Glu294Ter) rs397508009 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.9331G>T (p.Glu3111Ter) rs397508047 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9648+1G>C rs730881573 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs) rs730881619 0.00001
NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile) rs104894095 0.00001
NM_000135.4(FANCA):c.1776+1G>A rs756140957 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.1189G>A (p.Gly397Arg) rs863224007 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs) rs63751327 0.00001
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer) rs63750767 0.00001
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter) rs63749873 0.00001
NM_000179.3(MSH6):c.651dup (p.Lys218Ter) rs63750955 0.00001
NM_000179.3(MSH6):c.742del (p.Arg248fs) rs587781691 0.00001
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter) rs63751221 0.00001
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg) rs267607995 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062 0.00001
NM_000277.3(PAH):c.241A>C (p.Thr81Pro) rs62509017 0.00001
NM_000277.3(PAH):c.694C>T (p.Gln232Ter) rs62507348 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458 0.00001
NM_000277.3(PAH):c.842+3G>C rs62507324 0.00001
NM_000277.3(PAH):c.913-7A>G rs62517165 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter) rs758972589 0.00001
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter) rs730881411 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.1680-1G>A rs121908794 0.00001
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter) rs121908760 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter) rs121908810 0.00001
NM_000492.4(CFTR):c.273+1G>A rs121908791 0.00001
NM_000492.4(CFTR):c.2810dup (p.Val938fs) rs193922510 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.3744del (p.Lys1250fs) rs121908784 0.00001
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330 0.00001
NM_000492.4(CFTR):c.3808del (p.Asp1270fs) rs763843966 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000500.9(CYP21A2):c.1096C>T (p.His366Tyr) rs1330554738 0.00001
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) rs12530380 0.00001
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg) rs41397847 0.00001
NM_000518.5(HBB):c.*111A>G rs63751128 0.00001
NM_000518.5(HBB):c.-78A>G rs33931746 0.00001
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936 0.00001
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853 0.00001
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102 0.00001
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) rs34716011 0.00001
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959 0.00001
NM_000518.5(HBB):c.92+2T>C rs33956879 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 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.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) rs199774121 0.00001
NM_000527.5(LDLR):c.820del (p.Thr274fs) rs751122998 0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617 0.00001
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422 0.00001
NM_000535.7(PMS2):c.2174+1G>A rs267608172 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter) rs786201047 0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 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.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000551.4(VHL):c.292T>C (p.Tyr98His) rs5030809 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.3917G>A (p.Arg1306Gln) rs61749385 0.00001
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) rs61751296 0.00001
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.437G>A (p.Trp146Ter) rs1306473047 0.00001
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met) rs776487884 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001354712.2(THRB):c.1286G>A (p.Arg429Gln) rs1553609210 0.00001
NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys) rs367757240 0.00001
NM_001354712.2(THRB):c.1313G>A (p.Arg438His) rs121918698 0.00001
NM_001354712.2(THRB):c.1357C>G (p.Pro453Ala) rs28933408 0.00001
NM_001354712.2(THRB):c.727C>T (p.Arg243Trp) rs121918707 0.00001
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter) rs1060499974 0.00001
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter) rs104894267 0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402 0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490 0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636 0.00001
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter) rs750219200 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) rs587780784 0.00001
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter) rs760502479 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) rs756250205 0.00001
NM_007194.4(CHEK2):c.1489del (p.Asp497fs) rs774175654 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007194.4(CHEK2):c.684-7_694del rs1555921323 0.00001
NM_007294.4(BRCA1):c.1054G>T (p.Glu352Ter) rs80357472 0.00001
NM_007294.4(BRCA1):c.135-1G>T rs80358158 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) rs80357064 0.00001
NM_007294.4(BRCA1):c.1960A>T (p.Lys654Ter) rs80357355 0.00001
NM_007294.4(BRCA1):c.213-11T>G rs80358061 0.00001
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter) rs80357233 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717 0.00001
NM_007294.4(BRCA1):c.302-2del rs273899695 0.00001
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs) rs80357509 0.00001
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter) rs80357134 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.3675C>A (p.Cys1225Ter) rs879254023 0.00001
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter) rs80356989 0.00001
NM_007294.4(BRCA1):c.4243del (p.Glu1415fs) rs80357981 0.00001
NM_007294.4(BRCA1):c.4357+1G>A rs80358027 0.00001
NM_007294.4(BRCA1):c.4485-1G>A rs80358189 0.00001
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter) rs80357437 0.00001
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys) rs80356988 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_007294.4(BRCA1):c.514del (p.Gln172fs) rs80357872 0.00001
NM_007294.4(BRCA1):c.5278-1G>C rs80358099 0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463 0.00001
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474 0.00001
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val) rs80357069 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5467+1G>A rs80358145 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter) rs80357629 0.00001
NM_007294.4(BRCA1):c.791_794del (p.Ser264fs) rs80357707 0.00001
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs) rs1257545151 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter) rs180177103 0.00001
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter) rs1555461154 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_024675.4(PALB2):c.229del (p.Cys77fs) rs180177084 0.00001
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter) rs764509489 0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) rs180177112 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_024675.4(PALB2):c.62T>G (p.Leu21Ter) rs769240800 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter) rs730881633 0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410 0.00001
NM_058216.3(RAD51C):c.404+2T>C rs730881931 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874 0.00001
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs) rs753009073 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
GRCh37/hg19 10p11.22(chr10:31425682-32599180)x1
GRCh37/hg19 10p12.1(chr10:27204530-29105882)x1
GRCh37/hg19 10p15.3(chr10:100026-1281266)x1
GRCh37/hg19 10p15.3(chr10:100026-820189)x1
GRCh37/hg19 10p15.3(chr10:100026-881198)x1
GRCh37/hg19 10p15.3(chr10:100027-291134)x1
GRCh37/hg19 10p15.3(chr10:116045-1573221)x1
GRCh37/hg19 10p15.3(chr10:116045-954771)x1
GRCh37/hg19 10p15.3(chr10:184171-604601)x1
GRCh37/hg19 10p15.3-15.1(chr10:100026-4433206)x3
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)x1
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51700837)x1
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1
GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1
GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1
GRCh37/hg19 10q21.1-21.2(chr10:55589950-63990649)x1
GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)x1
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3
GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1
GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1
GRCh37/hg19 10q22.3-23.2(chr10:81617260-89146780)x1
GRCh37/hg19 10q23.1-23.31(chr10:87232436-89649679)x1
GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1
GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1
GRCh37/hg19 10q23.2-23.31(chr10:88685387-92144296)x1
GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3
GRCh37/hg19 10q24.31-24.32(chr10:102925257-103401586)x3
GRCh37/hg19 10q24.31-24.32(chr10:102958930-103445585)x3
GRCh37/hg19 10q24.31-24.32(chr10:102958930-103525401)x3
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1
GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1
GRCh37/hg19 10q26.13-26.3(chr10:127375792-135427143)x1
GRCh37/hg19 10q26.2-26.3(chr10:128877896-131842835)x1
GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1
GRCh37/hg19 10q26.2-26.3(chr10:129009772-135427143)x1
GRCh37/hg19 10q26.2-26.3(chr10:129031265-135427143)x1
GRCh37/hg19 10q26.2-26.3(chr10:129381095-135427143)x1
GRCh37/hg19 10q26.2-26.3(chr10:130043370-135345340)x1
GRCh37/hg19 10q26.3(chr10:131949020-135427143)x1
GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1
GRCh37/hg19 11p13(chr11:31794997-31822354)x1
GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1
GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3
GRCh37/hg19 11p15.4(chr11:5112523-5336304)x1
GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3
GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3
GRCh37/hg19 11p15.5(chr11:1980946-2054887)x1
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3
GRCh37/hg19 11q13.2(chr11:67799161-68393180)x1
GRCh37/hg19 11q13.3-13.4(chr11:69214835-70821137)x1
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3
GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1
GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1
GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1
GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1
GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1
GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1
GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1
GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1
GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1
GRCh37/hg19 11q24.2-25(chr11:125785487-134938470)x1
GRCh37/hg19 11q24.2-25(chr11:127602115-134938470)x1
GRCh37/hg19 11q24.2-25(chr11:127690585-132404117)x1
GRCh37/hg19 11q24.3-25(chr11:129072293-134938470)x1
GRCh37/hg19 11q25(chr11:132187876-134938470)x1
GRCh37/hg19 12p12.1(chr12:21582333-24920271)x1
GRCh37/hg19 12p12.1(chr12:23537708-23757164)x1
GRCh37/hg19 12p12.1(chr12:23594097-23768820)x1
GRCh37/hg19 12p12.1(chr12:23656814-23741624)x1
GRCh37/hg19 12p12.1-11.22(chr12:23693737-29545102)x1
GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1
GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1
GRCh37/hg19 12p13.33(chr12:173786-2793493)x1
GRCh37/hg19 12p13.33(chr12:817514-2205439)x1
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3
GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1
GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1
GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3
GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)x1
GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1
GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3
GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1
GRCh37/hg19 12q14.3(chr12:65716808-66690108)x1
GRCh37/hg19 12q14.3-15(chr12:66045645-68872343)x1
GRCh37/hg19 12q15(chr12:68572386-70833868)x1
GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1
GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1
GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1
GRCh37/hg19 12q24.21(chr12:114756557-114871208)x1
GRCh37/hg19 12q24.21(chr12:116448190-116603459)x3
GRCh37/hg19 12q24.21(chr12:116456529-116488520)x1
GRCh37/hg19 12q24.21(chr12:116481669-116569556)x1
GRCh37/hg19 12q24.21(chr12:116503127-116558092)x1
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
GRCh37/hg19 12q24.21-24.23(chr12:116499832-118681240)x1
GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3
GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3
GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)x1
GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3
GRCh37/hg19 13q12.11(chr13:20668070-23029230)x1
GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1
GRCh37/hg19 13q12.2(chr13:28147818-28258950)x1
GRCh37/hg19 13q12.2(chr13:28159780-28289790)x1
GRCh37/hg19 13q13.3(chr13:35778509-36259617)x1
GRCh37/hg19 13q13.3-14.11(chr13:35501428-40901176)x1
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3
GRCh37/hg19 13q14.2(chr13:50179353-50506923)x3
GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1
GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3
GRCh37/hg19 13q21.33-31.1(chr13:71502357-86571730)x1
GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3
GRCh37/hg19 13q22.2-31.3(chr13:76942604-90660121)x1
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3
GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1
GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1
GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1
GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1
GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)x1
GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1
GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1
GRCh37/hg19 13q32.3-34(chr13:100334135-110383902)x1
GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3
GRCh37/hg19 13q33.1-33.3(chr13:104521177-109327788)x1
GRCh37/hg19 13q33.2-34(chr13:105389857-113467489)x1
GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1
GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1
GRCh37/hg19 13q33.3-34(chr13:108567578-115107733)x3
GRCh37/hg19 13q33.3-34(chr13:109771548-115107733)x1
GRCh37/hg19 13q34(chr13:112530842-115107733)x1
GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1
GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1
GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1
GRCh37/hg19 14q11.2(chr14:21589998-21999445)x1
GRCh37/hg19 14q11.2(chr14:21725624-22003017)x1
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3
GRCh37/hg19 14q12(chr14:25172628-30285023)x1
GRCh37/hg19 14q12(chr14:28428064-29988744)x1
GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1
GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1
GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1
GRCh37/hg19 14q13.3(chr14:36969461-37264529)x1
GRCh37/hg19 14q13.3-21.1(chr14:36830396-42541277)x1
GRCh37/hg19 14q22.2(chr14:54250363-55362006)x1
GRCh37/hg19 14q22.3(chr14:55615073-58043694)x1
GRCh37/hg19 14q22.3(chr14:57126229-57336190)x1
GRCh37/hg19 14q22.3(chr14:57130786-57577796)x1
GRCh37/hg19 14q22.3-23.1(chr14:56605398-59404256)x1
GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3
GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3
GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1
GRCh37/hg19 14q32.2(chr14:99538014-100082239)x1
GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1
GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1
GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3
GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1
GRCh37/hg19 14q32.33(chr14:104764078-107285437)x1
GRCh37/hg19 14q32.33(chr14:105303584-107285437)x1
GRCh37/hg19 15q11.2(chr15:22770421-23291159)x1
GRCh37/hg19 15q11.2(chr15:22770421-23625677)x1
GRCh37/hg19 15q11.2(chr15:22770422-23082328)x1
GRCh37/hg19 15q11.2(chr15:22770422-23082442)x1
GRCh37/hg19 15q11.2(chr15:22770422-23195725)x1
GRCh37/hg19 15q11.2(chr15:22770422-23679133)x1
GRCh37/hg19 15q11.2-12(chr15:23288374-27706996)x1
GRCh37/hg19 15q11.2-12(chr15:23662481-25991024)x1
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28376934)x4
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545601)x4
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x1
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4
GRCh37/hg19 15q11.2-13.1(chr15:22770422-29013164)x3
GRCh37/hg19 15q11.2-13.1(chr15:22876919-28561671)x1
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28823722)x1
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28705281)x1
GRCh37/hg19 15q11.2-13.1(chr15:23288374-29062203)x1
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28560269)x1
GRCh37/hg19 15q11.2-13.1(chr15:23290787-28560269)x1
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x1
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x3
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28534245)x1
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28545601)x3
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28915864)x1
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x3
GRCh37/hg19 15q11.2-13.1(chr15:23620192-28545459)x3
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28534458)x3
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28723454)x3
GRCh37/hg19 15q11.2-13.1(chr15:23632678-28545355)x3
GRCh37/hg19 15q11.2-13.1(chr15:23637603-28644578)x1
GRCh37/hg19 15q11.2-13.1(chr15:23670891-28561671)x1
GRCh37/hg19 15q11.2-13.1(chr15:24740574-28659911)x1
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x1
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386553)x4
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073668)x3,4
GRCh37/hg19 15q11.2-13.2(chr15:22770422-30386553)x4
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32421780)x2,3
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32439524)x4
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4
GRCh37/hg19 15q11.2-13.3(chr15:22770421-33098520)x3,4
GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3
GRCh37/hg19 15q11.2-13.3(chr15:23213406-32446830)x1
GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1
GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3
GRCh37/hg19 15q13.1-13.2(chr15:28376935-31108698)x3
GRCh37/hg19 15q13.1-13.3(chr15:28540415-32446830)x1
GRCh37/hg19 15q13.1-13.3(chr15:28915863-32446830)x1
GRCh37/hg19 15q13.1-13.3(chr15:28946433-32446830)x1
GRCh37/hg19 15q13.1-13.3(chr15:29235104-32446830)x1
GRCh37/hg19 15q13.1-13.3(chr15:29268247-32446830)x1
GRCh37/hg19 15q13.1-13.3(chr15:29382884-32192467)x1
GRCh37/hg19 15q13.2-13.3(chr15:30370018-32446830)x1
GRCh37/hg19 15q13.2-13.3(chr15:30374368-32446830)x1
GRCh37/hg19 15q13.2-13.3(chr15:30769995-32701482)x1
GRCh37/hg19 15q13.2-13.3(chr15:30913573-32446830)x1
GRCh37/hg19 15q13.2-13.3(chr15:30913573-32914239)x1
GRCh37/hg19 15q13.2-13.3(chr15:30913574-32446830)x1
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32444044)x1
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32914240)x1
GRCh37/hg19 15q13.2-13.3(chr15:31098690-32444044)x1
GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)x1
GRCh37/hg19 15q13.2-13.3(chr15:31112919-32446830)x1
GRCh37/hg19 15q13.3(chr15:31223642-32446830)x1
GRCh37/hg19 15q13.3(chr15:32003537-32446830)x1
GRCh37/hg19 15q13.3(chr15:32003538-32446830)x1
GRCh37/hg19 15q13.3(chr15:32011476-32446830)x1
GRCh37/hg19 15q13.3-14(chr15:31675452-35689958)x1
GRCh37/hg19 15q14(chr15:34197488-38656254)x1
GRCh37/hg19 15q14-15.1(chr15:38170429-40775075)x1
GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1
GRCh37/hg19 15q21.1(chr15:48179968-48727846)x1
GRCh37/hg19 15q21.1-21.2(chr15:47192561-50819726)x1
GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1
GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3
GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3
GRCh37/hg19 15q21.3(chr15:55772371-57880518)x1
GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1
GRCh37/hg19 15q22.31-23(chr15:66861081-69213575)x1
GRCh37/hg19 15q22.31-23(chr15:67172682-68053940)x1
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1
GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1
GRCh37/hg19 15q24.1-24.2(chr15:75078195-75862756)x1
GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1
GRCh37/hg19 15q24.2(chr15:75601120-76081362)x1
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3
GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2
GRCh37/hg19 15q25.2(chr15:82631657-83198302)x1
GRCh37/hg19 15q25.2(chr15:83220107-84811774)x1
GRCh37/hg19 15q25.2-25.3(chr15:83201955-85786847)x1
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1
GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3
GRCh37/hg19 15q26.2-26.3(chr15:98275761-102358202)x1
GRCh37/hg19 15q26.3(chr15:98686212-102429112)x1
GRCh37/hg19 15q26.3(chr15:98795669-102429112)x1
GRCh37/hg19 16p11.2(chr16:28336673-29358712)x1
GRCh37/hg19 16p11.2(chr16:28389576-29438326)x1
GRCh37/hg19 16p11.2(chr16:28466730-30178406)x1
GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1
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GRCh37/hg19 19p13.3(chr19:260911-3501271)x3
GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3
GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1
GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1
GRCh37/hg19 1p21.1(chr1:103532704-104132185)x3
GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3
GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1
GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1
GRCh37/hg19 1p36.11(chr1:23980892-24024498)x1
GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1
GRCh37/hg19 1p36.13(chr1:17284531-17770100)x1
GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1
GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1
GRCh37/hg19 1p36.23(chr1:7235627-7605511)x1
GRCh37/hg19 1p36.23(chr1:7480054-7659291)x1
GRCh37/hg19 1p36.23(chr1:7490132-7800890)x1
GRCh37/hg19 1p36.23(chr1:7526232-8290521)x1
GRCh37/hg19 1p36.23-36.22(chr1:7331314-9427796)x1
GRCh37/hg19 1p36.23-36.22(chr1:7391956-9775929)x1
GRCh37/hg19 1p36.31(chr1:5505039-7027995)x1
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1
GRCh37/hg19 1p36.33(chr1:849466-1314437)x1
GRCh37/hg19 1p36.33(chr1:849466-1976788)x1
GRCh37/hg19 1p36.33(chr1:849466-2033256)x1
GRCh37/hg19 1p36.33(chr1:849466-2240632)x1
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GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1
GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1
GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1
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GRCh37/hg19 1p36.33-36.32(chr1:1335011-2302755)x1
GRCh37/hg19 1p36.33-36.32(chr1:2056695-2447725)x1
GRCh37/hg19 1p36.33-36.32(chr1:2173570-5023430)x1
GRCh37/hg19 1p36.33-36.32(chr1:2190850-3503606)x1
GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1
GRCh37/hg19 1p36.33-36.32(chr1:849466-4262915)x1
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1
GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1
GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1
GRCh37/hg19 1q21.1(chr1:145083851-145986573)x1
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GRCh37/hg19 1q21.1-21.2(chr1:144549794-147978640)x3
GRCh37/hg19 1q21.1-21.2(chr1:144842544-147832190)x1
GRCh37/hg19 1q21.1-21.2(chr1:144842544-148832359)x1
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GRCh37/hg19 1q21.1-21.2(chr1:144884331-148514236)x1
GRCh37/hg19 1q21.1-21.2(chr1:144884331-148665189)x1
GRCh37/hg19 1q21.1-21.2(chr1:144887445-148801960)x1
GRCh37/hg19 1q21.1-21.2(chr1:145053968-148823133)x3
GRCh37/hg19 1q21.1-21.2(chr1:145068491-147929323)x1
GRCh37/hg19 1q21.1-21.2(chr1:145074728-148832359)x1
GRCh37/hg19 1q21.1-21.2(chr1:145311525-147509544)x1
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GRCh37/hg19 1q21.1-21.2(chr1:145733443-147929323)x1
GRCh37/hg19 1q21.1-21.2(chr1:145764393-147830830)x1
GRCh37/hg19 1q21.1-21.2(chr1:145768023-147929323)x1
GRCh37/hg19 1q21.1-21.2(chr1:145769108-147929323)x1
GRCh37/hg19 1q21.1-21.2(chr1:145769109-148216113)x1
GRCh37/hg19 1q21.1-21.2(chr1:145770625-148514899)x1
GRCh37/hg19 1q21.1-21.2(chr1:145770679-147926347)x1
GRCh37/hg19 1q21.1-21.2(chr1:145770679-148519140)x1
GRCh37/hg19 1q21.1-21.2(chr1:145770680-147929323)x1
GRCh37/hg19 1q21.1-21.2(chr1:145784611-148519963)x1
GRCh37/hg19 1q21.1-21.2(chr1:145786289-147830830)x1
GRCh37/hg19 1q21.1-21.2(chr1:145786360-148514899)x1
GRCh37/hg19 1q21.1-21.2(chr1:145792037-147929323)x1
GRCh37/hg19 1q21.1-21.2(chr1:145792051-148846369)x1
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147897962)x1
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147926347)x1
GRCh37/hg19 1q21.1-21.2(chr1:145895747-147962980)x1
GRCh37/hg19 1q21.1-21.2(chr1:146030328-147897962)x1
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147898062)x1
GRCh37/hg19 1q21.1-21.2(chr1:146043714-147819815)x3
GRCh37/hg19 1q21.1-21.2(chr1:146043714-148514899)x1
GRCh37/hg19 1q21.1-21.2(chr1:146096700-147929323)x1
GRCh37/hg19 1q21.1-21.2(chr1:146112080-147399145)x3
GRCh37/hg19 1q21.1-21.2(chr1:146112080-147819815)x3
GRCh37/hg19 1q21.1-21.2(chr1:146117290-147897962)x1
GRCh37/hg19 1q21.1-21.2(chr1:146145424-147830830)x1
GRCh37/hg19 1q21.1-21.2(chr1:146470887-147845170)x1
GRCh37/hg19 1q21.1-21.2(chr1:146470887-148020200)x1
GRCh37/hg19 1q21.1-21.2(chr1:146470888-147473821)x1
GRCh37/hg19 1q21.1-21.2(chr1:146483912-147828510)x1
GRCh37/hg19 1q21.1-21.2(chr1:146496425-147819815)x3
GRCh37/hg19 1q21.1-21.2(chr1:146498298-147401392)x3
GRCh37/hg19 1q21.1-21.2(chr1:146498299-147393336)x3
GRCh37/hg19 1q21.1-21.2(chr1:146505911-147829213)x1
GRCh37/hg19 1q21.1-21.2(chr1:146577645-147391923)x3
GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3
GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1
GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1
GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3
GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1
GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3
GRCh37/hg19 1q31.2-32.1(chr1:193011753-199882947)x1
GRCh37/hg19 1q41(chr1:214853277-222111742)x1
GRCh37/hg19 1q41(chr1:218486800-218632368)x1
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GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)x1
GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3
GRCh37/hg19 1q42.11-42.12(chr1:224442473-224794913)x1
GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3
GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3
GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1
GRCh37/hg19 1q42.2-43(chr1:233843930-237971511)x1
GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1
GRCh37/hg19 1q43-44(chr1:242483182-245087048)x1
GRCh37/hg19 1q43-44(chr1:242709334-244225511)x1
GRCh37/hg19 1q43-44(chr1:243085543-247137125)x3
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GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3
GRCh37/hg19 1q44(chr1:244797639-249224684)x1
GRCh37/hg19 1q44(chr1:244960357-245040680)x1
GRCh37/hg19 1q44(chr1:244971506-245024284)x1
GRCh37/hg19 1q44(chr1:245278737-245971950)x1
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GRCh37/hg19 20p12.3-12.1(chr20:7604120-14739025)x3
GRCh37/hg19 20p13(chr20:61568-1305971)x1
GRCh37/hg19 20p13(chr20:61568-2269777)x1
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GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1
GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3
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GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3
GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1
GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1
GRCh37/hg19 20q13.33(chr20:61815143-62318983)x1
GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1
GRCh37/hg19 20q13.33(chr20:62002369-62915555)x1
GRCh37/hg19 20q13.33(chr20:62002791-62054955)x1
GRCh37/hg19 20q13.33(chr20:62044658-62091058)x1
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GRCh37/hg19 21q11.2-21.2(chr21:15006457-24522577)x1
GRCh37/hg19 21q11.2-21.2(chr21:15006457-25292671)x1
GRCh37/hg19 21q11.2-21.3(chr21:15006457-29325923)x1
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3
GRCh37/hg19 21q21.1-21.3(chr21:21437700-30474088)x3
GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3
GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1
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GRCh37/hg19 21q22.11(chr21:34379096-35572731)x1
GRCh37/hg19 21q22.11(chr21:34909333-34931454)x1
GRCh37/hg19 21q22.11(chr21:34909697-34931454)x1
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GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3
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GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1
GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18629207)x3
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644773)x4
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x3
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828)x4
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GRCh37/hg19 22q11.21(chr22:18649189-20311858)x3
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GRCh37/hg19 22q11.21-11.22(chr22:21947428-22962196)x1
GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1
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GRCh37/hg19 22q11.21-11.23(chr22:21465661-23666232)x3
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GRCh37/hg19 22q11.22-11.23(chr22:22997929-24995256)x3
GRCh37/hg19 22q11.22-11.23(chr22:23258368-25059827)x3
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3
GRCh37/hg19 22q11.23(chr22:23650873-25043046)x3
GRCh37/hg19 22q11.23(chr22:23690388-25066472)x3
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GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1
GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1
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GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1
GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1
GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1
GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1
GRCh37/hg19 22q13.31-13.33(chr22:47567951-51183840)x1
GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1
GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3
GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1
GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3
GRCh37/hg19 22q13.33(chr22:50134203-51183840)x1
GRCh37/hg19 22q13.33(chr22:50190425-51183767)x1
GRCh37/hg19 22q13.33(chr22:50613566-51197838)x1
GRCh37/hg19 22q13.33(chr22:50791825-51181078)x1
GRCh37/hg19 22q13.33(chr22:50973975-51183840)x1
GRCh37/hg19 22q13.33(chr22:51073380-51197838)x1
GRCh37/hg19 22q13.33(chr22:51098981-51183767)x1
GRCh37/hg19 22q13.33(chr22:51121376-51183840)x1
GRCh37/hg19 22q13.33(chr22:51121452-51183840)x1
GRCh37/hg19 22q13.33(chr22:51122307-51224091)x1
GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1
GRCh37/hg19 2p15(chr2:61379352-61928100)x1
GRCh37/hg19 2p16.1-15(chr2:61215497-61714418)x1
GRCh37/hg19 2p16.3(chr2:50298398-50415002)x1
GRCh37/hg19 2p16.3(chr2:50352345-50520197)x1
GRCh37/hg19 2p16.3(chr2:50369632-50470202)x1
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GRCh37/hg19 2p16.3(chr2:50690712-51147280)x1
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GRCh37/hg19 2p16.3(chr2:50766007-50927534)x1
GRCh37/hg19 2p16.3(chr2:50770184-50813046)x1
GRCh37/hg19 2p16.3(chr2:50824330-50996165)x1
GRCh37/hg19 2p16.3(chr2:50838595-51078612)x1
GRCh37/hg19 2p16.3(chr2:50868551-51521625)x1
GRCh37/hg19 2p16.3(chr2:50871418-51603924)x1
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GRCh37/hg19 2p16.3(chr2:50947539-51512609)x1
GRCh37/hg19 2p16.3(chr2:50975815-51328796)x1
GRCh37/hg19 2p16.3(chr2:50975816-51411126)x1
GRCh37/hg19 2p16.3(chr2:50991242-51158769)x1
GRCh37/hg19 2p16.3(chr2:51002884-51257328)x1
GRCh37/hg19 2p16.3(chr2:51003258-51209822)x1
GRCh37/hg19 2p16.3(chr2:51009232-51492867)x1
GRCh37/hg19 2p16.3(chr2:51014918-51470037)x1
GRCh37/hg19 2p16.3(chr2:51047025-51209824)x1
GRCh37/hg19 2p16.3(chr2:51057959-51386797)x1
GRCh37/hg19 2p16.3(chr2:51062935-51463501)x1
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GRCh37/hg19 2p16.3(chr2:51080862-51411126)x1
GRCh37/hg19 2p16.3(chr2:51085470-51400479)x1
GRCh37/hg19 2p16.3(chr2:51089735-51263065)x1
GRCh37/hg19 2p16.3(chr2:51099779-51490709)x1
GRCh37/hg19 2p16.3(chr2:51118080-51348997)x1
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GRCh37/hg19 2p16.3(chr2:51139206-51602566)x1
GRCh37/hg19 2p16.3(chr2:51141391-51324495)x1
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GRCh37/hg19 2p16.3(chr2:51148272-51363855)x1
GRCh37/hg19 2p16.3(chr2:51150534-51188464)x1
GRCh37/hg19 2p16.3(chr2:51183119-51354468)x1
GRCh37/hg19 2p16.3(chr2:51193858-51433041)x1
GRCh37/hg19 2p16.3(chr2:51201101-51512609)x1
GRCh37/hg19 2p21(chr2:45037498-45298668)x1
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GRCh37/hg19 2p22.3(chr2:32269694-32457939)x1
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GRCh37/hg19 2p23.1-22.3(chr2:32083215-32684402)x1
GRCh37/hg19 2p23.2-22.3(chr2:29240004-32380876)x1
GRCh37/hg19 2p24.1-23.3(chr2:19905995-24762790)x1
GRCh37/hg19 2p24.3(chr2:15621732-16226970)x3
GRCh37/hg19 2p24.3(chr2:15718236-16693828)x3
GRCh37/hg19 2p24.3-24.2(chr2:15478363-17062394)x3
GRCh37/hg19 2p25.3(chr2:12770-3000954)x1
GRCh37/hg19 2p25.3(chr2:12771-1947832)x1
GRCh37/hg19 2p25.3(chr2:2074335-3934366)x3
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3
GRCh37/hg19 2p25.3-25.2(chr2:12770-4823625)x3
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3
GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1
GRCh37/hg19 2q12.2-13(chr2:107029681-113127751)x1
GRCh37/hg19 2q13(chr2:110980294-113137529)x1
GRCh37/hg19 2q13(chr2:111366255-113111856)x1
GRCh37/hg19 2q13(chr2:111366256-113127751)x1
GRCh37/hg19 2q13(chr2:111369264-113142794)x1
GRCh37/hg19 2q13(chr2:113853399-114095549)x1
GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3
GRCh37/hg19 2q14.1-14.2(chr2:115416190-122399064)x1
GRCh37/hg19 2q14.1-14.3(chr2:114707932-124328692)x1
GRCh37/hg19 2q14.1-14.3(chr2:116761476-123897262)x1
GRCh37/hg19 2q14.2(chr2:121612201-121734527)x1
GRCh37/hg19 2q14.2-14.3(chr2:118872395-128069813)x1
GRCh37/hg19 2q14.2-14.3(chr2:118903294-123099547)x1
GRCh37/hg19 2q14.2-14.3(chr2:121241775-126487783)x1
GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1
GRCh37/hg19 2q22.2-23.3(chr2:142409401-152680804)x3
GRCh37/hg19 2q22.3(chr2:145110888-145255210)x1
GRCh37/hg19 2q22.3-23.1(chr2:148646132-148959158)x1
GRCh37/hg19 2q22.3-23.1(chr2:148679076-148894267)x1
GRCh37/hg19 2q22.3-23.3(chr2:148406827-152954124)x1
GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1
GRCh37/hg19 2q23.1(chr2:148746282-148802565)x1
GRCh37/hg19 2q23.1(chr2:148746282-148897425)x1
GRCh37/hg19 2q23.1(chr2:148755020-148862543)x1
GRCh37/hg19 2q23.1(chr2:148755020-149050963)x1
GRCh37/hg19 2q23.1(chr2:148762386-148932571)x1
GRCh37/hg19 2q23.1(chr2:148883626-149209179)x1
GRCh37/hg19 2q23.1(chr2:148984799-149022674)x1
GRCh37/hg19 2q23.1(chr2:149094014-149166807)x1
GRCh37/hg19 2q23.3-24.1(chr2:154328530-158759642)x1
GRCh37/hg19 2q23.3-24.1(chr2:154852961-159126250)x1
GRCh37/hg19 2q24.1(chr2:156828817-158377885)x1
GRCh37/hg19 2q24.1-24.2(chr2:158925958-162489191)x1
GRCh37/hg19 2q24.2(chr2:160229645-160357102)x1
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3
GRCh37/hg19 2q24.3(chr2:166055469-166219950)x1
GRCh37/hg19 2q24.3(chr2:166177293-166439804)x1
GRCh37/hg19 2q24.3(chr2:166610320-167356086)x1
GRCh37/hg19 2q24.3(chr2:166899878-166920402)x1
GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3
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GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1
GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1
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GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1
GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1
GRCh37/hg19 2q33.1(chr2:199994308-200599890)x1
GRCh37/hg19 2q33.1(chr2:200221989-200268498)x1
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GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3
GRCh37/hg19 2q35(chr2:215557511-215623955)x1
GRCh37/hg19 2q35(chr2:216883237-220953003)x3
GRCh37/hg19 2q35-36.2(chr2:220614743-225587770)x1
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1
GRCh37/hg19 2q35-36.3(chr2:221439250-226170404)x1
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3
GRCh37/hg19 2q36.1(chr2:222621434-224754689)x1
GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3
GRCh37/hg19 2q36.3(chr2:230626876-230887430)x1
GRCh37/hg19 2q36.3(chr2:230689315-230810845)x1
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3
GRCh37/hg19 2q37.1-37.3(chr2:234090049-239494702)x1
GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3
GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1
GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1
GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1
GRCh37/hg19 2q37.2-37.3(chr2:236172348-241611309)x1
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GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3
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GRCh37/hg19 2q37.3(chr2:240112450-242783384)x1
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GRCh37/hg19 2q37.3(chr2:241810311-242783384)x1
GRCh37/hg19 2q37.3(chr2:242016876-242783384)x1
GRCh37/hg19 3p13(chr3:70618611-72399570)x1
GRCh37/hg19 3p13(chr3:70857459-71259544)x1
GRCh37/hg19 3p13(chr3:71081905-71227572)x1
GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)x1
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GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3
GRCh37/hg19 3p25.3(chr3:9043040-9454382)x1
GRCh37/hg19 3p25.3-25.2(chr3:10024917-11917048)x1
GRCh37/hg19 3p25.3-25.2(chr3:10922740-12456978)x1
GRCh37/hg19 3p26.1(chr3:4333903-4652945)x1
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GRCh37/hg19 3p26.1(chr3:6200935-6981500)x3
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3
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GRCh37/hg19 3p26.3(chr3:298102-2679515)x1
GRCh37/hg19 3p26.3(chr3:61891-1891570)x1
GRCh37/hg19 3p26.3(chr3:61891-2447256)x1
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GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3
GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1
GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1
GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1
GRCh37/hg19 3p26.3-25.3(chr3:61892-9769457)x1
GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1
GRCh37/hg19 3p26.3-26.1(chr3:61891-4098164)x1
GRCh37/hg19 3p26.3-26.1(chr3:61891-5167964)x1
GRCh37/hg19 3p26.3-26.1(chr3:61891-7032830)x1
GRCh37/hg19 3p26.3-26.1(chr3:61891-7486254)x1
GRCh37/hg19 3p26.3-26.1(chr3:61891-7875536)x1
GRCh37/hg19 3p26.3-26.1(chr3:61891-8173161)x1
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GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1
GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1
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GRCh37/hg19 3q21.1-21.2(chr3:123426881-124387174)x1
GRCh37/hg19 3q22.3-23(chr3:138525030-139146538)x1
GRCh37/hg19 3q23(chr3:138737687-142053396)x1
GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1
GRCh37/hg19 3q26.1(chr3:167343287-167470158)x1
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GRCh37/hg19 3q26.33(chr3:179016729-181527320)x1
GRCh37/hg19 3q26.33(chr3:180510432-181562798)x1
GRCh37/hg19 3q26.33(chr3:181386449-181504204)x1
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3
GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3
GRCh37/hg19 3q27.2-27.3(chr3:185879162-187446035)x1
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3
GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3
GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3
GRCh37/hg19 3q29(chr3:195068028-197851986)x3
GRCh37/hg19 3q29(chr3:195690228-197356334)x1
GRCh37/hg19 3q29(chr3:195703615-197348575)x1
GRCh37/hg19 3q29(chr3:195703615-197356334)x3
GRCh37/hg19 3q29(chr3:195725290-197015654)x1
GRCh37/hg19 3q29(chr3:195725290-197339848)x3
GRCh37/hg19 3q29(chr3:195725290-197356334)x3
GRCh37/hg19 3q29(chr3:195914129-196804639)x1
GRCh37/hg19 3q29(chr3:196190723-197605588)x3
GRCh37/hg19 3q29(chr3:196897651-197081796)x1
GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1
GRCh37/hg19 4p16.2(chr4:5636439-5710337)x1
GRCh37/hg19 4p16.3(chr4:1-1328868)x1
GRCh37/hg19 4p16.3(chr4:1941633-3879802)x1
GRCh37/hg19 4p16.3(chr4:68345-1675143)x1
GRCh37/hg19 4p16.3(chr4:68345-2137211)x1
GRCh37/hg19 4p16.3(chr4:68345-2503033)x3
GRCh37/hg19 4p16.3(chr4:68345-2786584)x1
GRCh37/hg19 4p16.3(chr4:68346-2437290)x1
GRCh37/hg19 4p16.3(chr4:68346-2681414)x1
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1
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GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3
GRCh37/hg19 4p16.3-16.2(chr4:2364201-5447465)x1
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1
GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1
GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1
GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1
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GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3
GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3
GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1
GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1
GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1
GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1
GRCh37/hg19 4q21.22-21.23(chr4:82593140-85651685)x1
GRCh37/hg19 4q21.23(chr4:85592482-85651685)x1
GRCh37/hg19 4q21.23-21.3(chr4:85721709-86937764)x1
GRCh37/hg19 4q22.1-22.3(chr4:90005204-96971785)x1
GRCh37/hg19 4q23-24(chr4:100542119-103793167)x1
GRCh37/hg19 4q25(chr4:111334313-113223858)x1
GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3
GRCh37/hg19 4q28.3-31.21(chr4:136529470-141564812)x1
GRCh37/hg19 4q28.3-31.21(chr4:137901978-141527647)x1
GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1
GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1
GRCh37/hg19 4q31.23(chr4:149309976-149452658)x1
GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1
GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3
GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1
GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1
GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1
GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1
GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3
GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3
GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1
GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3
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GRCh37/hg19 4q35.2(chr4:188478516-190957473)x1
GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3
GRCh37/hg19 5p13.2(chr5:37049896-37374124)x3
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3
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GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1
GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1
GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1
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GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1
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GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1
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GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1
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GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1
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GRCh37/hg19 5q11.1-11.2(chr5:49430268-53182665)x1
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GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1
GRCh37/hg19 5q32(chr5:147164969-149315489)x1
GRCh37/hg19 5q32(chr5:147165102-147600692)x1
GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3
GRCh37/hg19 5q33.3-34(chr5:157801321-162780186)x1
GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1
GRCh37/hg19 5q34(chr5:160853366-161535511)x1
GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1
GRCh37/hg19 5q35.2(chr5:176483840-176588195)x1
GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1
GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1
GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1
GRCh37/hg19 5q35.3(chr5:176918345-179061393)x1
GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1
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GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1
GRCh37/hg19 6p24.3(chr6:10099993-10564232)x1
GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1
GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1
GRCh37/hg19 6p25.1-24.3(chr6:5997521-8570039)x1
GRCh37/hg19 6p25.3(chr6:156974-2208360)x1
GRCh37/hg19 6p25.3(chr6:156975-2072578)x1
GRCh37/hg19 6p25.3(chr6:647204-1716710)x1
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3
GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3
GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3
GRCh37/hg19 6p25.3-25.2(chr6:156974-3398920)x1
GRCh37/hg19 6p25.3-25.2(chr6:156975-3718881)x1
GRCh37/hg19 6p25.3-25.2(chr6:302183-3290583)x3
GRCh37/hg19 6q12(chr6:65578764-66019421)x3
GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1
GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1
GRCh37/hg19 6q13-14.1(chr6:74226559-80208037)x1
GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1
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GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3
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GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1
GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1
GRCh37/hg19 6q16.1-21(chr6:96596732-105554568)x1
GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1
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GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1
GRCh37/hg19 6q23.2(chr6:133522860-134541311)x1
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GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1
GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1
GRCh37/hg19 6q24.2-25.1(chr6:144947731-150266155)x1
GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1
GRCh37/hg19 6q25.2-25.3(chr6:153584880-157203309)x1
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3
GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1
GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1
GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1
GRCh37/hg19 6q27(chr6:165190527-170919482)x1
GRCh37/hg19 6q27(chr6:167091844-170919482)x1
GRCh37/hg19 6q27(chr6:167388817-170919482)x1
GRCh37/hg19 6q27(chr6:167440417-170919482)x1
GRCh37/hg19 6q27(chr6:167580012-170919482)x1
GRCh37/hg19 6q27(chr6:168051206-170919482)x1
GRCh37/hg19 6q27(chr6:168939661-170919482)x1
GRCh37/hg19 6q27(chr6:170136337-170919482)x1
GRCh37/hg19 6q27(chr6:170441452-170808613)x1
GRCh37/hg19 6q27(chr6:170466312-170919482)x1
GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1
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GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1
GRCh37/hg19 7p21.1-15.3(chr7:18603745-21437047)x1
GRCh37/hg19 7p21.2-15.3(chr7:14544155-21719929)x3
GRCh37/hg19 7p21.2-21.1(chr7:13886653-20267202)x1
GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1
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GRCh37/hg19 7p22.3(chr7:43360-1648288)x1
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3
GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3
GRCh37/hg19 7q11.22(chr7:67518091-70095739)x1
GRCh37/hg19 7q11.22(chr7:67638834-71764461)x1
GRCh37/hg19 7q11.22(chr7:69248785-69438070)x1
GRCh37/hg19 7q11.22(chr7:69489582-69603832)x1
GRCh37/hg19 7q11.22(chr7:69532233-69644230)x1
GRCh37/hg19 7q11.22(chr7:69617684-69932353)x1
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GRCh37/hg19 7q11.22(chr7:69848278-70012732)x3
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GRCh37/hg19 7q11.22(chr7:70147871-70249445)x1
GRCh37/hg19 7q11.22(chr7:70188374-70236724)x1
GRCh37/hg19 7q11.22-11.23(chr7:68977230-73939510)x1
GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1
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GRCh37/hg19 7q11.23(chr7:72576872-74175429)x3
GRCh37/hg19 7q11.23(chr7:72577021-74147166)x3
GRCh37/hg19 7q11.23(chr7:72577021-74859638)x3
GRCh37/hg19 7q11.23(chr7:72589515-74386749)x1
GRCh37/hg19 7q11.23(chr7:72608514-74386749)x1
GRCh37/hg19 7q11.23(chr7:72612042-74574641)x1
GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1
GRCh37/hg19 7q11.23(chr7:72643632-74143060)x1
GRCh37/hg19 7q11.23(chr7:72654782-74142190)x1
GRCh37/hg19 7q11.23(chr7:72659674-74164894)x3
GRCh37/hg19 7q11.23(chr7:72700524-74069858)x3
GRCh37/hg19 7q11.23(chr7:72701018-74143240)x3
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GRCh37/hg19 7q11.23(chr7:73142034-73690195)x1
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GRCh37/hg19 7q21.3(chr7:93285237-96280817)x1
GRCh37/hg19 7q21.3(chr7:94813388-96264152)x1
GRCh37/hg19 7q21.3(chr7:95258682-96465856)x1
GRCh37/hg19 7q21.3(chr7:96264152-96860892)x1
GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1
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GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1
GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1
GRCh37/hg19 7q31.1-31.2(chr7:108967155-116850770)x1
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3
GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1
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GRCh37/hg19 7q33(chr7:133230189-137972605)x1
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GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1
GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1
GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1
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GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3
GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1
GRCh37/hg19 7q36.2-36.3(chr7:153958355-159119707)x1
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GRCh37/hg19 8p11.21(chr8:42303397-43002481)x1
GRCh37/hg19 8p11.21(chr8:42303398-43002481)x1
GRCh37/hg19 8p12(chr8:30335124-33770070)x1
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GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1
GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3
GRCh37/hg19 8p23.1(chr8:10647782-11898980)x1
GRCh37/hg19 8p23.1(chr8:11147024-11945856)x1
GRCh37/hg19 8p23.1(chr8:6999219-11895232)x3
GRCh37/hg19 8p23.1(chr8:6999219-11898980)x3
GRCh37/hg19 8p23.1(chr8:8093065-11881742)x3
GRCh37/hg19 8p23.1(chr8:8093065-11945855)x3
GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1
GRCh37/hg19 8p23.1(chr8:8093169-11272546)x1
GRCh37/hg19 8p23.1(chr8:8093169-11898980)x1
GRCh37/hg19 8p23.1(chr8:8093169-11935465)x1
GRCh37/hg19 8p23.1(chr8:8093169-11936001)x1
GRCh37/hg19 8p23.1(chr8:8119295-11765719)x3
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3
GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3
GRCh37/hg19 8p23.3(chr8:158048-1411510)x1
GRCh37/hg19 8p23.3(chr8:158048-1554662)x1
GRCh37/hg19 8p23.3(chr8:158048-2081207)x1
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3
GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3
GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3
GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1
GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2
GRCh37/hg19 8p23.3-23.1(chr8:158048-10939681)x1
GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3
GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x1
GRCh37/hg19 8p23.3-23.1(chr8:158048-8102819)x3
GRCh37/hg19 8p23.3-23.1(chr8:158048-9025197)x1
GRCh37/hg19 8p23.3-23.1(chr8:158048-9750676)x3
GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1
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GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1
GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1
GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)x1
GRCh37/hg19 8p23.3-23.1(chr8:411691-6999114)x1
GRCh37/hg19 8p23.3-23.2(chr8:158048-3476104)x1
GRCh37/hg19 8p23.3-23.2(chr8:158048-4188901)x1
GRCh37/hg19 8p23.3-23.2(chr8:158048-4847772)x1
GRCh37/hg19 8p23.3-23.2(chr8:158049-4608757)x1
GRCh37/hg19 8p23.3-23.2(chr8:158049-5033424)x1
GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1
GRCh37/hg19 8q13.2-13.3(chr8:69894553-72597645)x1
GRCh37/hg19 8q21.11-21.12(chr8:77345003-79544235)x1
GRCh37/hg19 8q21.11-21.13(chr8:74942333-80413867)x1
GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3
GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3
GRCh37/hg19 8q22.2-22.3(chr8:100551211-103676738)x1
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1
GRCh37/hg19 8q23.3(chr8:116454726-116614300)x1
GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1
GRCh37/hg19 8q24.11(chr8:119102236-119147280)x1
GRCh37/hg19 8q24.11-24.12(chr8:118466438-119966333)x1
GRCh37/hg19 8q24.11-24.12(chr8:118645068-121684174)x1
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3
GRCh37/hg19 9p22.3(chr9:14303821-14446948)x1
GRCh37/hg19 9p23(chr9:13122130-13649715)x3
GRCh37/hg19 9p23(chr9:14067538-14159969)x1
GRCh37/hg19 9p23-22.3(chr9:13036456-14661243)x1
GRCh37/hg19 9p24.1-22.3(chr9:8595338-15622555)x1
GRCh37/hg19 9p24.3(chr9:203861-382931)x1
GRCh37/hg19 9p24.3(chr9:203861-499996)x1
GRCh37/hg19 9p24.3(chr9:203861-567615)x1
GRCh37/hg19 9p24.3(chr9:203862-399039)x1
GRCh37/hg19 9p24.3(chr9:260680-436983)x1
GRCh37/hg19 9p24.3(chr9:285034-402280)x1
GRCh37/hg19 9p24.3(chr9:894913-1138636)x1
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1
GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1
GRCh37/hg19 9p24.3-24.1(chr9:203861-4959039)x1
GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1
GRCh37/hg19 9q21.13-21.31(chr9:74534790-84014155)x1
GRCh37/hg19 9q22.31-22.32(chr9:95711603-98469214)x1
GRCh37/hg19 9q22.32(chr9:97698177-98849150)x1
GRCh37/hg19 9q22.32(chr9:98089678-98282528)x1
GRCh37/hg19 9q22.32(chr9:98226015-98298532)x1
GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1
GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1
GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1
GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3
GRCh37/hg19 9q34.11(chr9:130363849-130455691)x1
GRCh37/hg19 9q34.11(chr9:130957344-132310210)x1
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3
GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3
GRCh37/hg19 9q34.3(chr9:140366594-141020389)x1
GRCh37/hg19 9q34.3(chr9:140401671-141020389)x1
GRCh37/hg19 9q34.3(chr9:140447917-141020389)x1
GRCh37/hg19 9q34.3(chr9:140458395-140638045)x1
GRCh37/hg19 9q34.3(chr9:140612478-141020389)x1
GRCh37/hg19 9q34.3(chr9:140622578-141020389)x1
GRCh37/hg19 9q34.3(chr9:140657896-140716973)x1
GRCh37/hg19 9q34.3(chr9:140694542-140918479)x1
GRCh37/hg19 Xp11.22(chrX:53188785-53934760)x2
GRCh37/hg19 Xp11.22(chrX:53188785-54049698)x3
GRCh37/hg19 Xp11.22(chrX:53372728-54106257)x2
GRCh37/hg19 Xp11.22(chrX:53372729-53797237)x3
GRCh37/hg19 Xp11.22(chrX:53542604-53953746)x2
GRCh37/hg19 Xp11.22(chrX:53954419-54291347)x0
GRCh37/hg19 Xp11.22-11.21(chrX:52901458-55684871)x2
GRCh37/hg19 Xp11.23(chrX:48225025-48601326)x1
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2
GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3
GRCh37/hg19 Xp11.3(chrX:44715970-44741826)x0
GRCh37/hg19 Xp11.3(chrX:44773319-44909637)x1
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3
GRCh37/hg19 Xp11.4-11.23(chrX:42046069-46491183)x0
GRCh37/hg19 Xp11.4-11.3(chrX:41350855-44616591)x0
GRCh37/hg19 Xp21.1(chrX:31542598-31691102)x0
GRCh37/hg19 Xp21.1(chrX:31681369-31923633)x1
GRCh37/hg19 Xp21.1(chrX:31684915-31723599)x0
GRCh37/hg19 Xp21.1(chrX:31684916-31875673)x0
GRCh37/hg19 Xp21.1(chrX:31713409-31761739)x0
GRCh37/hg19 Xp21.1(chrX:31757066-32131812)x0
GRCh37/hg19 Xp21.1(chrX:31761311-31869309)x1
GRCh37/hg19 Xp21.1(chrX:31761312-31876380)x0
GRCh37/hg19 Xp21.1(chrX:31766645-31923633)x1
GRCh37/hg19 Xp21.1(chrX:31778982-32076838)x1
GRCh37/hg19 Xp21.1(chrX:31795363-31959887)x0
GRCh37/hg19 Xp21.1(chrX:31795363-31982230)x0
GRCh37/hg19 Xp21.1(chrX:31795364-32015996)x0
GRCh37/hg19 Xp21.1(chrX:31831085-32063055)x0
GRCh37/hg19 Xp21.1(chrX:31844448-31936656)x0
GRCh37/hg19 Xp21.1(chrX:31844448-31952468)x0
GRCh37/hg19 Xp21.1(chrX:31855684-32157553)x0
GRCh37/hg19 Xp21.1(chrX:31871411-31952468)x0
GRCh37/hg19 Xp21.1(chrX:31880951-32082537)x0
GRCh37/hg19 Xp21.1(chrX:31889651-32057692)x0
GRCh37/hg19 Xp21.1(chrX:31894316-31976319)x1
GRCh37/hg19 Xp21.1(chrX:31917771-31976319)x0
GRCh37/hg19 Xp21.1(chrX:31936034-31952468)x0
GRCh37/hg19 Xp21.1(chrX:31941493-32044401)x0
GRCh37/hg19 Xp21.1(chrX:31959958-31987608)x0
GRCh37/hg19 Xp21.1(chrX:31962948-32117422)x0
GRCh37/hg19 Xp21.1(chrX:31962955-32746089)x0
GRCh37/hg19 Xp21.1(chrX:32311728-32565863)x1
GRCh37/hg19 Xp21.1(chrX:32353233-32474885)x1
GRCh37/hg19 Xp21.1(chrX:32419533-37487291)x1
GRCh37/hg19 Xp21.1(chrX:32455259-32791566)x0
GRCh37/hg19 Xp21.1(chrX:32458016-32593856)x1
GRCh37/hg19 Xp21.1(chrX:32563085-32787197)x0
GRCh37/hg19 Xp21.1(chrX:32681049-33090616)x2
GRCh37/hg19 Xp21.1(chrX:32765462-32891720)x0
GRCh37/hg19 Xp21.1(chrX:32795826-32852263)x0
GRCh37/hg19 Xp21.1(chrX:32835255-32920421)x2
GRCh37/hg19 Xp21.1(chrX:32867689-32935343)x0
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1
GRCh37/hg19 Xp21.2(chrX:29400224-29721917)x0
GRCh37/hg19 Xp21.2(chrX:31301655-31365681)x1
GRCh37/hg19 Xp21.2(chrX:31458626-31479641)x0
GRCh37/hg19 Xp21.3(chrX:28493281-29234189)x1
GRCh37/hg19 Xp21.3-21.1(chrX:28309706-31853992)x1
GRCh37/hg19 Xp21.3-21.2(chrX:29154202-29881444)x1
GRCh37/hg19 Xp22.11(chrX:23164537-23400286)x1
GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1
GRCh37/hg19 Xp22.11-21.1(chrX:24650157-31844543)x2
GRCh37/hg19 Xp22.11-21.1(chrX:24879855-32902136)x1
GRCh37/hg19 Xp22.11-21.2(chrX:24675165-31490279)x1
GRCh37/hg19 Xp22.12(chrX:21500494-21574694)x0
GRCh37/hg19 Xp22.12(chrX:21606718-21780720)x0
GRCh37/hg19 Xp22.12(chrX:21606719-21774071)x1
GRCh37/hg19 Xp22.13(chrX:18661283-18702225)x1
GRCh37/hg19 Xp22.2-22.12(chrX:16194993-20640014)x2
GRCh37/hg19 Xp22.31(chrX:6448751-8135644)x1
GRCh37/hg19 Xp22.31(chrX:6449236-8135644)x0
GRCh37/hg19 Xp22.31(chrX:6455150-8135644)x1
GRCh37/hg19 Xp22.31(chrX:6542443-7951092)x0
GRCh37/hg19 Xp22.31(chrX:6568478-7898751)x0
GRCh37/hg19 Xp22.31(chrX:6577106-8041392)x0
GRCh37/hg19 Xp22.31(chrX:6591135-9498909)x0
GRCh37/hg19 Xp22.31(chrX:6591135-9498909)x1
GRCh37/hg19 Xp22.31(chrX:6598868-7966755)x1
GRCh37/hg19 Xp22.31(chrX:6647161-8760719)x1
GRCh37/hg19 Xp22.31(chrX:6658781-8760719)x1
GRCh37/hg19 Xp22.31(chrX:6658871-8110243)x0
GRCh37/hg19 Xp22.31(chrX:6709092-8135053)x0
GRCh37/hg19 Xp22.31(chrX:6715352-7806067)x0
GRCh37/hg19 Xp22.31(chrX:6722953-7570280)x0
GRCh37/hg19 Xp22.31(chrX:6759774-7766481)x1
GRCh37/hg19 Xp22.31(chrX:6778999-8075687)x1
GRCh37/hg19 Xp22.31(chrX:6784328-8071202)x0
GRCh37/hg19 Xp22.31(chrX:6896604-7887498)x1
GRCh37/hg19 Xp22.31(chrX:7143912-7185127)x0
GRCh37/hg19 Xp22.31(chrX:7863476-9234976)x1
GRCh37/hg19 Xp22.31(chrX:8158933-8572776)x0
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2
GRCh37/hg19 Xp22.33(chrX:168546-1234634)x1
GRCh37/hg19 Xp22.33(chrX:168546-1358900)x1
GRCh37/hg19 Xp22.33(chrX:168546-1411818)x1
GRCh37/hg19 Xp22.33(chrX:168546-1616945)x1
GRCh37/hg19 Xp22.33(chrX:168546-1734397)x1
GRCh37/hg19 Xp22.33(chrX:168546-1922907)x0
GRCh37/hg19 Xp22.33(chrX:168546-3265521)x0
GRCh37/hg19 Xp22.33(chrX:168546-781139)x1
GRCh37/hg19 Xp22.33(chrX:168547-1536716)x1
GRCh37/hg19 Xp22.33(chrX:168547-2057937)x1
GRCh37/hg19 Xp22.33(chrX:201705-2696762)x3
GRCh37/hg19 Xp22.33(chrX:217329-1234634)x1
GRCh37/hg19 Xp22.33(chrX:2703823-3354304)x1
GRCh37/hg19 Xp22.33(chrX:310147-1734397)x1
GRCh37/hg19 Xp22.33(chrX:356281-2382269)x1
GRCh37/hg19 Xp22.33(chrX:416347-756010)x1
GRCh37/hg19 Xp22.33(chrX:450823-862460)x1
GRCh37/hg19 Xp22.33(chrX:450941-1651464)x1
GRCh37/hg19 Xp22.33(chrX:450941-827222)x1
GRCh37/hg19 Xp22.33(chrX:482532-1460944)x1
GRCh37/hg19 Xp22.33(chrX:502307-1234634)x1
GRCh37/hg19 Xp22.33(chrX:502858-837407)x1
GRCh37/hg19 Xp22.33(chrX:546305-650199)x1
GRCh37/hg19 Xp22.33(chrX:602793-629993)x1
GRCh37/hg19 Xp22.33(chrX:614727-636490)x0
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1
GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1
GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2
GRCh37/hg19 Xp22.33-22.31(chrX:1-7810731)x2
GRCh37/hg19 Xp22.33-22.31(chrX:168546-6449753)x1
GRCh37/hg19 Xp22.33-22.31(chrX:168546-6449837)x0
GRCh37/hg19 Xp22.33-22.31(chrX:168546-7796566)x1
GRCh37/hg19 Xp22.33-22.31(chrX:168546-8503210)x1
GRCh37/hg19 Xp22.33-22.32(chrX:1-4567282)x1
GRCh37/hg19 Xp22.33-22.32(chrX:168546-5723788)x0
GRCh37/hg19 Xp22.33-22.32(chrX:2703822-4472534)x1
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3
GRCh37/hg19 Xq13.1(chrX:68001279-68138241)x1
GRCh37/hg19 Xq13.2-21.31(chrX:73620711-90395211)x1
GRCh37/hg19 Xq13.3(chrX:73917544-73988312)x1
GRCh37/hg19 Xq21.1(chrX:76902857-77454045)x2
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1
GRCh37/hg19 Xq21.2-21.31(chrX:84765926-87074707)x1
GRCh37/hg19 Xq21.31-21.33(chrX:86794810-96275443)x1
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1
GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1
GRCh37/hg19 Xq22.2(chrX:102718261-103490112)x2
GRCh37/hg19 Xq22.2(chrX:102742391-103109211)x2
GRCh37/hg19 Xq22.2(chrX:102767250-103236332)x2
GRCh37/hg19 Xq22.2(chrX:102984836-103329001)x2
GRCh37/hg19 Xq22.2(chrX:103017429-103236332)x3
GRCh37/hg19 Xq22.2(chrX:103032630-103328582)x2
GRCh37/hg19 Xq22.3(chrX:104728884-105652106)x0
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1
GRCh37/hg19 Xq23(chrX:108922296-111549785)x1
GRCh37/hg19 Xq23(chrX:109418639-110180983)x1
GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2
GRCh37/hg19 Xq24-25(chrX:119173583-126584360)x2
GRCh37/hg19 Xq24-25(chrX:120750703-124254005)x3
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1
GRCh37/hg19 Xq25(chrX:122338834-123471785)x2
GRCh37/hg19 Xq25(chrX:122896328-123069720)x3
GRCh37/hg19 Xq25(chrX:122900419-123323986)x2
GRCh37/hg19 Xq25(chrX:123077962-123237001)x4
GRCh37/hg19 Xq25(chrX:123118140-123166691)x1
GRCh37/hg19 Xq25(chrX:123244958-123406369)x3
GRCh37/hg19 Xq25(chrX:123350855-123986893)x0
GRCh37/hg19 Xq25-26.1(chrX:127435040-128717825)x0
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1
GRCh37/hg19 Xq26.1-26.3(chrX:129627661-135812056)x1
GRCh37/hg19 Xq26.2(chrX:132554646-132787377)x0
GRCh37/hg19 Xq26.2(chrX:132879202-132956033)x0
GRCh37/hg19 Xq26.3(chrX:135767906-136348117)x3
GRCh37/hg19 Xq27.1(chrX:139296733-140122588)x3
GRCh37/hg19 Xq27.1-27.3(chrX:139510129-145119351)x3
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1
GRCh37/hg19 Xq27.1-28(chrX:139493806-148855992)x1
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1
GRCh37/hg19 Xq27.1-28(chrX:139504564-149382013)x2
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1
GRCh37/hg19 Xq28(chrX:149650839-149937387)x1
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2
GRCh37/hg19 Xq28(chrX:152707335-153624154)x2
GRCh37/hg19 Xq28(chrX:152740984-153431748)x2
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2
GRCh37/hg19 Xq28(chrX:152941303-153549189)x2
GRCh37/hg19 Xq28(chrX:152957297-153030789)x1
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3
GRCh37/hg19 Xq28(chrX:153093501-153792322)x2
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2
GRCh37/hg19 Xq28(chrX:153123907-153431401)x2
GRCh37/hg19 Xq28(chrX:153135257-153594096)x3
GRCh37/hg19 Xq28(chrX:153282944-153681801)x3
GRCh37/hg19 Xq28(chrX:153549167-153858492)x2
GRCh37/hg19 Xq28(chrX:153560741-153761134)x2
GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3
GRCh37/hg19 Xq28(chrX:153567411-153621434)x1
GRCh37/hg19 Xq28(chrX:153581543-153858492)x2
GRCh37/hg19 Xq28(chrX:153606456-153828848)x2
GRCh37/hg19 Xq28(chrX:153613883-153862775)x3
GRCh37/hg19 Xq28(chrX:153613883-155233731)x2
GRCh37/hg19 Xq28(chrX:153749360-155233731)x3
GRCh37/hg19 Xq28(chrX:154078238-154563469)x3
GRCh37/hg19 Xq28(chrX:154110981-154565718)x2
GRCh37/hg19 Xq28(chrX:154112019-154625699)x2
GRCh37/hg19 Xq28(chrX:154112020-154617577)x3
GRCh37/hg19 Xq28(chrX:154120620-154568774)x2
GRCh37/hg19 Xq28(chrX:154120620-154617577)x3
GRCh37/hg19 Xq28(chrX:154120621-154565718)x1
GRCh37/hg19 Xq28(chrX:154120629-154565718)x0
GRCh37/hg19 Xq28(chrX:154120640-154565718)x1
GRCh37/hg19 Yp11.31(chrY:2650140-2691749)x0
GRCh37/hg19 Yp11.31-11.2(chrY:2650141-6312530)x0
GRCh37/hg19 Yp11.31-q11.221(chrY:2650140-15125858)x0
GRCh37/hg19 Yp11.31-q11.223(chrY:2650140-24070172)x2
GRCh37/hg19 Yp11.32-q11.1(chrY:168807-13134517)x1,2
GRCh37/hg19 Yp11.32-q11.221(chrY:1-16095773)x2
GRCh37/hg19 Yp11.32-q11.23(chrY:168546-28799937)x2
GRCh37/hg19 Yq11.21(chrY:14486671-15098073)x0
GRCh37/hg19 Yq11.21-12(chrY:13410538-59032808)x0
GRCh37/hg19 Yq11.21-12(chrY:14370813-59373566)x0
GRCh37/hg19 Yq11.221-11.23(chrY:18921311-28799937)x0
GRCh37/hg19 Yq11.223-11.23(chrY:24073794-28799937)x0
GRCh37/hg19 Yq11.223-11.23(chrY:24663585-28799937)x0
GRCh37/hg19 Yq11.223-11.23(chrY:24740855-28321739)x0
GRCh37/hg19 Yq11.223-12(chrY:24770884-59336737)x0
GRCh37/hg19 Yq11.23-12(chrY:26241299-59336737)x0
NC_000008.10:g.(6060654_6061169)_(6310738_6317266)del
NM_000016.6(ACADM):c.387+1G>A rs1057516983
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer) rs1557457623
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_000038.5:c.-18_8532del
NM_000038.5:c.136_1486del
NM_000038.6(APC):c.104del (p.Thr35fs) rs1114167593
NM_000038.6(APC):c.1229del (p.Leu410fs) rs863225308
NM_000038.6(APC):c.1229dup (p.Leu410fs) rs863225308
NM_000038.6(APC):c.1270C>T (p.Gln424Ter) rs1561542165
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1312+5G>A rs886039507
NM_000038.6(APC):c.1409-2A>C rs1064794163
NM_000038.6(APC):c.1409-2A>G rs1064794163
NM_000038.6(APC):c.147_150del (p.Lys49fs) rs587781694
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) rs137854580
NM_000038.6(APC):c.1500T>G (p.Tyr500Ter) rs387906230
NM_000038.6(APC):c.1626+1G>A rs1554081934
NM_000038.6(APC):c.1658G>A (p.Trp553Ter) rs863225318
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) rs137854574
NM_000038.6(APC):c.1744-2A>G rs587783035
NM_000038.6(APC):c.1775T>G (p.Leu592Ter) rs1764700195
NM_000038.6(APC):c.1861dup (p.Thr621fs) rs1580604238
NM_000038.6(APC):c.1873C>T (p.Gln625Ter) rs876659517
NM_000038.6(APC):c.1958+3A>G rs879254032
NM_000038.6(APC):c.1958G>A (p.Arg653Lys) rs1060503318
NM_000038.6(APC):c.2008_2014delinsTAGTTTTGTA (p.Lys670_His672delinsTer) rs1554083888
NM_000038.6(APC):c.2031_2034del (p.Ser678fs) rs878853422
NM_000038.6(APC):c.2097G>A (p.Trp699Ter) rs1060503282
NM_000038.6(APC):c.2107del (p.Ala703fs) rs587783030
NM_000038.6(APC):c.219del (p.Glu74fs) rs1756336297
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.2377C>T (p.Gln793Ter) rs2149867683
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2621C>G (p.Ser874Ter) rs1554084318
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.2661del (p.Ile887fs) rs1765238670
NM_000038.6(APC):c.2677G>T (p.Glu893Ter) rs199740875
NM_000038.6(APC):c.2802_2805del (p.Tyr935fs) rs1131691143
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.2884del (p.Asp962fs) rs1561580546
NM_000038.6(APC):c.288T>A (p.Tyr96Ter) rs376213437
NM_000038.6(APC):c.3164_3168del (p.Ile1055fs) rs1554084772
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3196del (p.Arg1066fs) rs878853436
NM_000038.6(APC):c.3211C>T (p.Gln1071Ter) rs876659539
NM_000038.6(APC):c.3224dup (p.Tyr1075Ter) rs1765368437
NM_000038.6(APC):c.3283C>T (p.Gln1095Ter) rs2149888710
NM_000038.6(APC):c.350del (p.Ser117fs)
NM_000038.6(APC):c.3709C>T (p.Gln1237Ter) rs1185643240
NM_000038.6(APC):c.3810T>A (p.Cys1270Ter) rs863225347
NM_000038.6(APC):c.3916G>T (p.Glu1306Ter) rs121913462
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.423-1G>T
NM_000038.6(APC):c.426_427del (p.Leu143fs) rs587782557
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs) rs387906234
NM_000038.6(APC):c.4413_4420dup (p.Ala1474delinsGluTer) rs1765677069
NM_000038.6(APC):c.4778del (p.Lys1593fs) rs1554086185
NM_000038.6(APC):c.509_512del (p.Asp170fs) rs387906231
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000038.6(APC):c.583C>T (p.Gln195Ter) rs749479682
NM_000038.6(APC):c.5986del (p.Gln1996fs) rs1580666429
NM_000038.6(APC):c.636dup (p.Arg213fs) rs1561485947
NM_000038.6(APC):c.6496C>T (p.Arg2166Ter) rs764527706
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.896_897del (p.Ser299fs) rs397515735
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.68_316del249 (p.Asp23_Leu105del)
NM_000059.3(BRCA2):c.8278_8279ins71 (p.?)
NM_000059.3(BRCA2):c.8312del (p.Pro2771fs) rs879255469
NM_000059.3(BRCA2):c.9117+1_9117+2delinsTC rs1566253399
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs) rs80359760
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.4(BRCA2):c.1029del (p.Lys343fs) rs80359260
NM_000059.4(BRCA2):c.1097T>G (p.Leu366Ter) rs886040345
NM_000059.4(BRCA2):c.1103C>A (p.Ser368Ter) rs80358407
NM_000059.4(BRCA2):c.1138del (p.Ser380fs) rs80359264
NM_000059.4(BRCA2):c.115del (p.Ala39fs) rs397507573
NM_000059.4(BRCA2):c.1164_1168del (p.Pro389fs) rs886038061
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter) rs760815829
NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs) rs397515635
NM_000059.4(BRCA2):c.1205del (p.Gly402fs) rs397507265
NM_000059.4(BRCA2):c.1238del (p.Leu413fs) rs80359271
NM_000059.4(BRCA2):c.1257del (p.Cys419fs) rs80359272
NM_000059.4(BRCA2):c.1265del (p.Asn422fs) rs80359273
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs) rs80359277
NM_000059.4(BRCA2):c.1327G>T (p.Glu443Ter) rs397507579
NM_000059.4(BRCA2):c.1362del (p.Lys454fs) rs80359282
NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs) rs80359283
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter) rs80358428
NM_000059.4(BRCA2):c.1433_1434del (p.Thr478fs) rs886040365
NM_000059.4(BRCA2):c.1444del (p.Ala483fs) rs397507588
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1499del (p.Gly500fs) rs397507591
NM_000059.4(BRCA2):c.1593dup (p.Glu532fs) rs397507272
NM_000059.4(BRCA2):c.1631_1632del (p.Thr544fs) rs80359295
NM_000059.4(BRCA2):c.1642C>T (p.Gln548Ter) rs398122729
NM_000059.4(BRCA2):c.1654del (p.Ser552fs) rs80359297
NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter) rs80358452
NM_000059.4(BRCA2):c.1688G>A (p.Trp563Ter) rs1566224110
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter) rs80358456
NM_000059.4(BRCA2):c.171C>G (p.Tyr57Ter) rs201523522
NM_000059.4(BRCA2):c.1733del (p.Gly578fs) rs879255326
NM_000059.4(BRCA2):c.1754del (p.Lys585fs) rs80359301
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1756A>T (p.Lys586Ter) rs397507275
NM_000059.4(BRCA2):c.1763_1766del (p.Asn588fs) rs80359303
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs) rs80359304
NM_000059.4(BRCA2):c.1794_1798del rs276174813
NM_000059.4(BRCA2):c.1800T>G (p.Tyr600Ter) rs80358464
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1831del (p.Ser611fs) rs80359311
NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter) rs80358474
NM_000059.4(BRCA2):c.1842dup (p.Asn615Ter) rs80359312
NM_000059.4(BRCA2):c.1855C>T (p.Gln619Ter) rs80358476
NM_000059.4(BRCA2):c.1887_1893del (p.Thr630fs) rs1555282146
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs) rs80359314
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.1910-1G>T rs1566225769
NM_000059.4(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.4(BRCA2):c.196C>T (p.Gln66Ter) rs397507617
NM_000059.4(BRCA2):c.204del (p.Lys68fs) rs80359320
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter) rs878853559
NM_000059.4(BRCA2):c.2099T>A (p.Leu700Ter) rs1555282449
NM_000059.4(BRCA2):c.217C>T (p.Gln73Ter) rs398122741
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter) rs80358494
NM_000059.4(BRCA2):c.2244C>G (p.Tyr748Ter) rs1555282563
NM_000059.4(BRCA2):c.2251dup (p.Thr751fs) rs886040416
NM_000059.4(BRCA2):c.2287del (p.His763fs) rs80359327
NM_000059.4(BRCA2):c.22_23del (p.Arg8fs) rs397507623
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs) rs80359328
NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter) rs398122746
NM_000059.4(BRCA2):c.2376C>A (p.Tyr792Ter) rs80358503
NM_000059.4(BRCA2):c.2426T>G (p.Leu809Ter) rs397507285
NM_000059.4(BRCA2):c.2435dup (p.Asn812fs) rs80359329
NM_000059.4(BRCA2):c.2471T>G (p.Leu824Ter) rs397507631
NM_000059.4(BRCA2):c.2471del (p.Ala823_Leu824insTer) rs886040427
NM_000059.4(BRCA2):c.250C>T (p.Gln84Ter) rs80358515
NM_000059.4(BRCA2):c.2517C>A (p.Tyr839Ter) rs80358516
NM_000059.4(BRCA2):c.2564_2565del (p.Thr855fs) rs80359334
NM_000059.4(BRCA2):c.2588dup (p.Asn863fs) rs80359335
NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter) rs80358523
NM_000059.4(BRCA2):c.262_263del (p.Leu88fs) rs276174825
NM_000059.4(BRCA2):c.2653_2656del (p.Asp885fs) rs80359340
NM_000059.4(BRCA2):c.2658_2659del (p.Asn886fs) rs397507291
NM_000059.4(BRCA2):c.26del (p.Pro9fs) rs80359343
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs) rs786204752
NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter) rs80358529
NM_000059.4(BRCA2):c.2786dup (p.Leu929fs) rs80359347
NM_000059.4(BRCA2):c.2808del (p.Lys936fs) rs398122753
NM_000059.4(BRCA2):c.2818C>T (p.Gln940Ter) rs80358532
NM_000059.4(BRCA2):c.2833_2834insTT (p.Lys945fs) rs80359355
NM_000059.4(BRCA2):c.2836_2837del (p.Asp946fs) rs80359357
NM_000059.4(BRCA2):c.2840del (p.Leu947fs) rs431825300
NM_000059.4(BRCA2):c.2845del (p.Tyr949fs) rs397507644
NM_000059.4(BRCA2):c.2847T>A (p.Tyr949Ter) rs886040449
NM_000059.4(BRCA2):c.289G>T (p.Glu97Ter) rs397507646
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs) rs80359365
NM_000059.4(BRCA2):c.2971_2983del (p.Asn991fs) rs886040456
NM_000059.4(BRCA2):c.3075_3076delinsTT (p.Lys1025_Lys1026delinsAsnTer) rs587779362
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.4(BRCA2):c.3145_3146delinsT (p.Asn1049fs) rs2137493635
NM_000059.4(BRCA2):c.316+2T>C rs81002805
NM_000059.4(BRCA2):c.316+5G>C rs81002840
NM_000059.4(BRCA2):c.3160_3163del (p.Asp1054fs) rs80359371
NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs) rs80359372
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs) rs80359373
NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter) rs876657678
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs) rs80359377
NM_000059.4(BRCA2):c.3235dup (p.Ser1079fs) rs397507660
NM_000059.4(BRCA2):c.3281del (p.Lys1094fs) rs2072476789
NM_000059.4(BRCA2):c.3336del (p.Glu1113fs) rs398122763
NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter) rs80358579
NM_000059.4(BRCA2):c.3396del (p.Lys1132fs) rs876658427
NM_000059.4(BRCA2):c.3422del (p.Thr1141fs) rs879255311
NM_000059.4(BRCA2):c.342_343del (p.His114fs) rs878853568
NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter) rs80358593
NM_000059.4(BRCA2):c.3469G>T (p.Glu1157Ter) rs80358595
NM_000059.4(BRCA2):c.3497del (p.Val1166fs) rs886040478
NM_000059.4(BRCA2):c.3500_3501del (p.Ile1167fs) rs80359387
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3554_3555del (p.Thr1185fs) rs80359389
NM_000059.4(BRCA2):c.3570del (p.Lys1191fs) rs80359390
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) rs80359391
NM_000059.4(BRCA2):c.3637G>T (p.Glu1213Ter) rs1566228876
NM_000059.4(BRCA2):c.3641dup (p.Phe1216fs) rs397507678
NM_000059.4(BRCA2):c.3689del (p.Ser1230fs) rs80359398
NM_000059.4(BRCA2):c.36dup (p.Glu13Ter) rs80359393
NM_000059.4(BRCA2):c.3717del (p.Lys1239fs) rs80359401
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs) rs80359406
NM_000059.4(BRCA2):c.3860dup (p.Asn1287fs) rs80359406
NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs) rs80359412
NM_000059.4(BRCA2):c.3866_3868dup (p.Cys1290Ter) rs1555283442
NM_000059.4(BRCA2):c.3873del (p.Gln1291fs) rs398122772
NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter) rs879255309
NM_000059.4(BRCA2):c.3915del (p.Phe1305fs) rs397507698
NM_000059.4(BRCA2):c.3939C>G (p.Tyr1313Ter) rs80358641
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile) rs80358650
NM_000059.4(BRCA2):c.4007_4008insCATC (p.Asp1337fs) rs878853577
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs) rs80359421
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs) rs397507322
NM_000059.4(BRCA2):c.407del (p.Asn136fs) rs80359425
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter) rs80358659
NM_000059.4(BRCA2):c.4112dup (p.Phe1372fs) rs730881606
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs) rs397507323
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter) rs80359429
NM_000059.4(BRCA2):c.4135del (p.Gln1379fs) rs1555283588
NM_000059.4(BRCA2):c.4139_4140dup (p.Lys1381fs) rs276174842
NM_000059.4(BRCA2):c.4163_4164delinsA (p.Thr1388fs) rs276174843
NM_000059.4(BRCA2):c.4218_4221del (p.Lys1406fs) rs80359435
NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter) rs80358663
NM_000059.4(BRCA2):c.4250dup (p.Asn1417fs) rs143998364
NM_000059.4(BRCA2):c.4257del (p.Asp1420fs) rs1566229958
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4304del (p.Asn1435fs) rs886040520
NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter) rs80358670
NM_000059.4(BRCA2):c.4325C>G (p.Ser1442Ter) rs80358670
NM_000059.4(BRCA2):c.4346_4350del (p.Asn1448_Phe1449insTer) rs1555283735
NM_000059.4(BRCA2):c.4363G>T (p.Glu1455Ter) rs1566230144
NM_000059.4(BRCA2):c.4380_4381del (p.Ser1461fs) rs397507715
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs) rs80359444
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs) rs397507331
NM_000059.4(BRCA2):c.4409_4413del (p.Ile1470fs) rs397507718
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs) rs397507333
NM_000059.4(BRCA2):c.4444G>T (p.Glu1482Ter) rs1002900129
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs) rs80359448
NM_000059.4(BRCA2):c.4456_4459del (p.Val1486fs) rs80359449
NM_000059.4(BRCA2):c.4462_4480del (p.His1488fs)
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs) rs397507720
NM_000059.4(BRCA2):c.4467_4474delinsTGTTTTT (p.Lys1489fs) rs886040533
NM_000059.4(BRCA2):c.4470dup (p.Leu1491fs) rs397507334
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs) rs80359451
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.4519C>T (p.Gln1507Ter)
NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter) rs80358683
NM_000059.4(BRCA2):c.4544del (p.Lys1515fs) rs397507725
NM_000059.4(BRCA2):c.4551_4554del (p.Lys1517fs) rs80359457
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs) rs80359458
NM_000059.4(BRCA2):c.4587dup (p.Lys1530fs) rs745456776
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.4593dup (p.Val1532fs) rs397507731
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs) rs80359460
NM_000059.4(BRCA2):c.4631dup (p.Asn1544fs) rs80359460
NM_000059.4(BRCA2):c.4633del (p.Leu1545fs) rs876658654
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs) rs80359462
NM_000059.4(BRCA2):c.4647_4650del (p.Lys1549fs) rs397507734
NM_000059.4(BRCA2):c.4651C>T (p.Gln1551Ter) rs876661062
NM_000059.4(BRCA2):c.4677del (p.Phe1559fs) rs1064794708
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.4(BRCA2):c.470_474del (p.Lys157fs) rs80359463
NM_000059.4(BRCA2):c.4712_4713del (p.Glu1571fs) rs80359464
NM_000059.4(BRCA2):c.4740_4741dup (p.Glu1581fs) rs864622401
NM_000059.4(BRCA2):c.475+1G>T rs81002797
NM_000059.4(BRCA2):c.476-2A>G rs81002853
NM_000059.4(BRCA2):c.4821_4823delinsC (p.Glu1608fs) rs587782854
NM_000059.4(BRCA2):c.4829_4830del (p.Val1610fs) rs80359468
NM_000059.4(BRCA2):c.4848_4849del (p.Leu1616_Ser1617insTer) rs397507746
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs) rs80359470
NM_000059.4(BRCA2):c.4884_4885del (p.Lys1628fs) rs1555283971
NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter) rs80358711
NM_000059.4(BRCA2):c.4912A>T (p.Lys1638Ter) rs886040553
NM_000059.4(BRCA2):c.4936_4937del (p.Glu1646fs) rs431825323
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs) rs80359473
NM_000059.4(BRCA2):c.4964dup (p.Tyr1655Ter) rs398122789
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter) rs80358721
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs) rs80359477
NM_000059.4(BRCA2):c.5042_5043del (p.Val1681fs) rs80359478
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter) rs397507758
NM_000059.4(BRCA2):c.5110_5113del (p.Glu1703_Arg1704insTer) rs879254123
NM_000059.4(BRCA2):c.5116_5119del (p.Asn1706fs) rs276174853
NM_000059.4(BRCA2):c.5120del (p.Thr1707fs) rs886039318
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer) rs80359484
NM_000059.4(BRCA2):c.5158dup (p.Ser1720fs) rs80359489
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter) rs80358740
NM_000059.4(BRCA2):c.516+1G>C rs397507762
NM_000059.4(BRCA2):c.5163dup (p.Ser1722fs) rs2137514578
NM_000059.4(BRCA2):c.517-1G>A rs81002849
NM_000059.4(BRCA2):c.517-2A>G rs81002858
NM_000059.4(BRCA2):c.518del (p.Gly173Valfs) rs80359492
NM_000059.4(BRCA2):c.5195del (p.Leu1732fs) rs587779363
NM_000059.4(BRCA2):c.5197_5198del (p.Ser1733fs) rs876660228
NM_000059.4(BRCA2):c.5201_5205delinsGAAAAG (p.Glu1734fs) rs483353082
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer) rs80359496
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5279C>G (p.Ser1760Ter) rs80358751
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs) rs80359503
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5385dup (p.Asp1796fs) rs1566232356
NM_000059.4(BRCA2):c.5386_5387del (p.Asp1796fs) rs587782598
NM_000059.4(BRCA2):c.5404C>T (p.Gln1802Ter) rs80358763
NM_000059.4(BRCA2):c.5410_5411del (p.Val1804fs) rs80359512
NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter) rs1566232471
NM_000059.4(BRCA2):c.5471dup (p.Asn1824fs) rs80359515
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs) rs80359519
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5578A>T (p.Lys1860Ter) rs431825332
NM_000059.4(BRCA2):c.5583dup (p.Val1862fs) rs397507790
NM_000059.4(BRCA2):c.5585_5588del (p.Val1862fs) rs80359523
NM_000059.4(BRCA2):c.5595_5596del (p.Phe1866fs) rs80359524
NM_000059.4(BRCA2):c.5604_5605del (p.Asp1868fs) rs773229361
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000059.4(BRCA2):c.5614A>T (p.Lys1872Ter) rs80358783
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5618_5622del (p.Val1873fs) rs1566232824
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs) rs80359526
NM_000059.4(BRCA2):c.5631del (p.Asn1877fs) rs397507357
NM_000059.4(BRCA2):c.5635G>T (p.Glu1879Ter) rs55996097
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) rs80358785
NM_000059.4(BRCA2):c.5655C>A (p.Cys1885Ter) rs80358789
NM_000059.4(BRCA2):c.5656C>T (p.Gln1886Ter) rs80358790
NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter) rs80359527
NM_000059.4(BRCA2):c.5682C>A (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5692del (p.Asp1898fs) rs398122539
NM_000059.4(BRCA2):c.5702_5703del (p.Glu1901fs) rs80359528
NM_000059.4(BRCA2):c.5715dup (p.Asn1906Ter) rs587782901
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.5763dup (p.Ala1922fs) rs80359534
NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs) rs80359537
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs) rs80359538
NM_000059.4(BRCA2):c.5807del (p.Met1936fs) rs1555284404
NM_000059.4(BRCA2):c.5826_5827del (p.Val1942_Ser1943insTer) rs1555284412
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000059.4(BRCA2):c.5925del (p.Cys1975fs) rs1555284465
NM_000059.4(BRCA2):c.593_596delinsAGG (p.Leu198_Ala199delinsTer) rs786202156
NM_000059.4(BRCA2):c.5959C>T (p.Gln1987Ter) rs80358828
NM_000059.4(BRCA2):c.5968_5969del (p.Asp1990fs) rs80359552
NM_000059.4(BRCA2):c.5980C>T (p.Gln1994Ter) rs80358831
NM_000059.4(BRCA2):c.6010G>T (p.Glu2004Ter)
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs) rs80359554
NM_000059.4(BRCA2):c.6025C>T (p.Gln2009Ter) rs80358838
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.4(BRCA2):c.6058G>T (p.Glu2020Ter) rs80358842
NM_000059.4(BRCA2):c.6078_6079del (p.Glu2028fs) rs80359557
NM_000059.4(BRCA2):c.6079dup (p.Arg2027fs) rs397507826
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs) rs80359558
NM_000059.4(BRCA2):c.6129dup (p.Gly2044fs) rs80359561
NM_000059.4(BRCA2):c.6141T>G (p.Tyr2047Ter) rs1466688245
NM_000059.4(BRCA2):c.6155C>A (p.Ser2052Ter) rs786202461
NM_000059.4(BRCA2):c.6155C>G (p.Ser2052Ter) rs786202461
NM_000059.4(BRCA2):c.6164del (p.Phe2055fs) rs397507831
NM_000059.4(BRCA2):c.6206T>G (p.Leu2069Ter) rs80358859
NM_000059.4(BRCA2):c.6216del (p.Leu2073fs) rs80359567
NM_000059.4(BRCA2):c.6244G>T (p.Glu2082Ter) rs886040642
NM_000059.4(BRCA2):c.6263del (p.Thr2088fs) rs1064794647
NM_000059.4(BRCA2):c.6267_6269delinsC (p.Glu2089fs) rs276174868
NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter) rs80358870
NM_000059.4(BRCA2):c.631+1G>A rs81002897
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile) rs80358871
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu) rs80358871
NM_000059.4(BRCA2):c.632-2A>G rs397507842
NM_000059.4(BRCA2):c.6320del (p.Pro2107fs) rs886040650
NM_000059.4(BRCA2):c.6352_6353del (p.Val2118fs) rs80359576
NM_000059.4(BRCA2):c.635_636del (p.Arg212fs) rs80359575
NM_000059.4(BRCA2):c.6373dup (p.Thr2125fs) rs80359577
NM_000059.4(BRCA2):c.6393_6396del (p.Lys2131fs) rs397507849
NM_000059.4(BRCA2):c.6393del (p.Lys2131fs) rs886038145
NM_000059.4(BRCA2):c.6397dup (p.Ser2133fs) rs431825342
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6408_6414del (p.Asn2137fs) rs397507851
NM_000059.4(BRCA2):c.6443_6444del (p.Ser2148fs) rs80359589
NM_000059.4(BRCA2):c.6445_6446del (p.Ser2148_Ile2149insTer) rs80359592
NM_000059.4(BRCA2):c.6447_6448dup (p.Lys2150fs) rs397507858
NM_000059.4(BRCA2):c.6458del (p.Pro2153fs) rs786203660
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter) rs398122559
NM_000059.4(BRCA2):c.6487dup (p.Gln2163fs) rs2137528047
NM_000059.4(BRCA2):c.6491del (p.Gln2164fs) rs1135401914
NM_000059.4(BRCA2):c.6500T>G (p.Leu2167Ter) rs730881543
NM_000059.4(BRCA2):c.6502G>T (p.Gly2168Ter) rs886040660
NM_000059.4(BRCA2):c.6531_6534del (p.Ile2177fs) rs397507865
NM_000059.4(BRCA2):c.6535_6536insA (p.Val2179fs) rs80359601
NM_000059.4(BRCA2):c.6541G>T (p.Gly2181Ter) rs371067421
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs) rs397507373
NM_000059.4(BRCA2):c.6574del (p.Met2192fs) rs1060502392
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer) rs80359607
NM_000059.4(BRCA2):c.6611del (p.Pro2204fs) rs1135401915
NM_000059.4(BRCA2):c.662_663del (p.Phe221fs) rs80359609
NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs) rs80359613
NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs) rs80359614
NM_000059.4(BRCA2):c.6644dup (p.Tyr2215Ter) rs80359615
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.6676_6677del (p.Glu2226fs) rs80359619
NM_000059.4(BRCA2):c.67+1G>A rs81002796
NM_000059.4(BRCA2):c.67+1G>T rs81002796
NM_000059.4(BRCA2):c.67+2T>C rs81002885
NM_000059.4(BRCA2):c.6724_6725del (p.Asp2242fs) rs397507375
NM_000059.4(BRCA2):c.6757_6758del (p.Leu2253fs) rs80359623
NM_000059.4(BRCA2):c.6761_6762del (p.Phe2254fs) rs80359624
NM_000059.4(BRCA2):c.6800C>G (p.Ser2267Ter) rs377698594
NM_000059.4(BRCA2):c.6815_6816del (p.Arg2272fs) rs879255310
NM_000059.4(BRCA2):c.682-1G>C rs81002831
NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs) rs80359629
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.6990_6994del (p.Ile2330fs) rs80359631
NM_000059.4(BRCA2):c.7007+1G>A rs397507891
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7008-2A>G rs81002823
NM_000059.4(BRCA2):c.7008-2A>T rs81002823
NM_000059.4(BRCA2):c.700del (p.Ser234fs) rs80359630
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.4(BRCA2):c.7025_7026del (p.Gln2342fs) rs80359634
NM_000059.4(BRCA2):c.7060C>T (p.Gln2354Ter) rs80358936
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7097dup (p.Thr2367fs) rs786202600
NM_000059.4(BRCA2):c.7126_7127del (p.Ala2376fs) rs2137556120
NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter) rs276174889
NM_000059.4(BRCA2):c.715del (p.Ser239fs) rs431825350
NM_000059.4(BRCA2):c.7208_7211del (p.Thr2403fs) rs80359641
NM_000059.4(BRCA2):c.7211_7212del (p.Lys2404fs) rs80359642
NM_000059.4(BRCA2):c.7212del (p.Val2405fs) rs80359642
NM_000059.4(BRCA2):c.7224del (p.Pro2409fs) rs1593918099
NM_000059.4(BRCA2):c.7234_7235insG (p.Thr2412fs) rs397507906
NM_000059.4(BRCA2):c.7241C>G (p.Ser2414Ter) rs80358951
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs) rs397507907
NM_000059.4(BRCA2):c.7254_7255del (p.Arg2418fs) rs80359644
NM_000059.4(BRCA2):c.729_732del (p.Asn243fs) rs80359645
NM_000059.4(BRCA2):c.7301del (p.Lys2434fs) rs786202441
NM_000059.4(BRCA2):c.7360del (p.Ile2454fs) rs80359646
NM_000059.4(BRCA2):c.7379_7380insG (p.Asn2460fs) rs80359647
NM_000059.4(BRCA2):c.7379_7382del (p.Asn2460fs) rs80359648
NM_000059.4(BRCA2):c.7419_7420del (p.Cys2473_Glu2474delinsTer) rs80359651
NM_000059.4(BRCA2):c.7436-2A>C rs397507917
NM_000059.4(BRCA2):c.7443del (p.Thr2482fs) rs80359652
NM_000059.4(BRCA2):c.7485dup (p.Lys2496Ter) rs886038171
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs) rs80359656
NM_000059.4(BRCA2):c.7540_7549del (p.Lys2514fs) rs1593919707
NM_000059.4(BRCA2):c.7556dup (p.Arg2520fs) rs80359660
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs) rs80359659
NM_000059.4(BRCA2):c.7567_7568del (p.Leu2523fs) rs80359664
NM_000059.4(BRCA2):c.756_757del (p.Asp252fs) rs80359662
NM_000059.4(BRCA2):c.7595_7596insTT (p.Ala2534fs) rs80359666
NM_000059.4(BRCA2):c.7617+1G>C rs397507922
NM_000059.4(BRCA2):c.7618-1G>A rs397507389
NM_000059.4(BRCA2):c.7618-2A>G rs886040940
NM_000059.4(BRCA2):c.7629T>A (p.Tyr2543Ter) rs1064794521
NM_000059.4(BRCA2):c.7655_7658del (p.Ile2552fs) rs80359669
NM_000059.4(BRCA2):c.7673_7674del (p.Glu2558fs) rs80359672
NM_000059.4(BRCA2):c.767_768del (p.Thr256fs) rs80359670
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.4(BRCA2):c.774_775del (p.Glu260fs) rs75096777
NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter) rs80359004
NM_000059.4(BRCA2):c.7762_7764delinsTT (p.Ile2588fs) rs483353072
NM_000059.4(BRCA2):c.778_779del (p.Glu260fs) rs80359677
NM_000059.4(BRCA2):c.7806-1G>A rs81002860
NM_000059.4(BRCA2):c.7806-1G>T rs81002860
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.7847del (p.Ser2616fs) rs80359685
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7900del (p.Met2634fs) rs1566244864
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) rs80359686
NM_000059.4(BRCA2):c.7934del (p.Arg2645fs) rs80359688
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.7974C>G (p.Tyr2658Ter) rs80359025
NM_000059.4(BRCA2):c.7976+2C>G rs886040943
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.7977-1G>C rs81002874
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8009C>A (p.Ser2670Ter) rs80359035
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8053del (p.Thr2685fs) rs397507958
NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter) rs863224469
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly) rs41293513
NM_000059.4(BRCA2):c.8174_8185delinsTT (p.Trp2725fs) rs730881615
NM_000059.4(BRCA2):c.818C>A (p.Ser273Ter) rs80359068
NM_000059.4(BRCA2):c.8200_8209del (p.Asp2733_Pro2734insTer) rs398122599
NM_000059.4(BRCA2):c.8234_8237del (p.Leu2745fs) rs80359699
NM_000059.4(BRCA2):c.8247_8248del (p.Lys2750fs) rs80359701
NM_000059.4(BRCA2):c.8308del (p.Ala2770fs) rs398122601
NM_000059.4(BRCA2):c.8322dup (p.Met2775fs) rs80359706
NM_000059.4(BRCA2):c.8331+2T>C rs398122602
NM_000059.4(BRCA2):c.8340_8343del (p.Asn2781fs) rs80359707
NM_000059.4(BRCA2):c.8363G>A (p.Trp2788Ter) rs80359080
NM_000059.4(BRCA2):c.8364G>A (p.Trp2788Ter) rs397507981
NM_000059.4(BRCA2):c.8400_8402delinsAAAA (p.Phe2801fs) rs483353077
NM_000059.4(BRCA2):c.8414_8416delinsC (p.Leu2805fs) rs397507402
NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter) rs776353983
NM_000059.4(BRCA2):c.8487+1G>A rs81002798
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8488-1G>T rs397507404
NM_000059.4(BRCA2):c.8489G>A (p.Trp2830Ter) rs80359101
NM_000059.4(BRCA2):c.8490G>A (p.Trp2830Ter) rs587776351
NM_000059.4(BRCA2):c.8501del (p.Thr2834fs) rs80359712
NM_000059.4(BRCA2):c.8504C>A (p.Ser2835Ter) rs80359102
NM_000059.4(BRCA2):c.8532_8533del (p.Glu2846fs) rs397507990
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs) rs80359714
NM_000059.4(BRCA2):c.8548_8551del (p.Glu2850fs) rs397507406
NM_000059.4(BRCA2):c.8575C>T (p.Gln2859Ter) rs80359115
NM_000059.4(BRCA2):c.8581A>T (p.Arg2861Ter) rs398122608
NM_000059.4(BRCA2):c.8585dup (p.Glu2863fs) rs80359720
NM_000059.4(BRCA2):c.8594dup (p.Leu2865fs) rs80359721
NM_000059.4(BRCA2):c.8633-1G>A rs398122711
NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs) rs80359724
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000059.4(BRCA2):c.8754+1G>A rs397508006
NM_000059.4(BRCA2):c.8754+4A>G rs81002893
NM_000059.4(BRCA2):c.8770G>T (p.Glu2924Ter) rs80359133
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs) rs397508010
NM_000059.4(BRCA2):c.8839G>T (p.Glu2947Ter) rs398122715
NM_000059.4(BRCA2):c.8848delinsCT (p.Lys2950fs) rs276174912
NM_000059.4(BRCA2):c.8869C>T (p.Gln2957Ter) rs276174913
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter) rs80359140
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.8909G>A (p.Trp2970Ter) rs1555288397
NM_000059.4(BRCA2):c.8914_8917dup (p.Arg2973fs) rs1593936898
NM_000059.4(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs) rs276174914
NM_000059.4(BRCA2):c.8924del (p.Val2975fs) rs397508020
NM_000059.4(BRCA2):c.8930del (p.Tyr2977fs) rs869320799
NM_000059.4(BRCA2):c.8948_8953+5del rs276174915
NM_000059.4(BRCA2):c.8953+1G>T rs81002882
NM_000059.4(BRCA2):c.8957_8958del (p.Ile2986fs) rs1593937245
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs) rs80359734
NM_000059.4(BRCA2):c.8969G>A (p.Trp2990Ter) rs80359148
NM_000059.4(BRCA2):c.8988_8990delinsTT (p.Leu2996fs) rs397508027
NM_000059.4(BRCA2):c.8991T>G (p.Tyr2997Ter) rs397508028
NM_000059.4(BRCA2):c.8995_8996del (p.Leu2999fs) rs2137622356
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs) rs80359741
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter) rs80359156
NM_000059.4(BRCA2):c.9054_9055del (p.Ser3018fs) rs80359743
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9117+1G>A rs81002802
NM_000059.4(BRCA2):c.9118-1G>A rs886040950
NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter) rs80359170
NM_000059.4(BRCA2):c.9182T>A (p.Leu3061Ter) rs80359175
NM_000059.4(BRCA2):c.9195_9196delinsAT (p.Phe3065_Gln3066delinsLeuTer) rs876659047
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.4(BRCA2):c.9227del (p.Gly3076fs) rs397508040
NM_000059.4(BRCA2):c.9245_9251del (p.Val3082fs) rs2137625817
NM_000059.4(BRCA2):c.9253del (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9257-1G>A rs81002889
NM_000059.4(BRCA2):c.9257-1G>C rs81002889
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.4(BRCA2):c.9289del (p.Cys3097fs) rs2073021088
NM_000059.4(BRCA2):c.9291T>A (p.Cys3097Ter) rs397508044
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter) rs80359211
NM_000059.4(BRCA2):c.9381G>A (p.Trp3127Ter) rs876661242
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs) rs80359763
NM_000059.4(BRCA2):c.9466del (p.Gln3156fs) rs80359766
NM_000059.4(BRCA2):c.9481A>T (p.Lys3161Ter) rs80359222
NM_000059.4(BRCA2):c.9522_9523delinsAT (p.Asn3174_Glu3175delinsLysTer) rs786202945
NM_000059.4(BRCA2):c.956dup (p.Asn319fs) rs80359770
NM_000059.4(BRCA2):c.9580_9581del (p.Pro3194fs) rs80359771
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter) rs80359230
NM_000059.4(BRCA2):c.9649_10257del (p.Met3217_Ter3419del) rs1566260735
NM_000059.4(BRCA2):c.9666del (p.Cys3222fs) rs80359772
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter) rs4987049
NM_000059.4(BRCA2):c.994del (p.Ile332fs) rs80359777
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) rs45476696
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000143.4(FH):c.1027C>T (p.Arg343Ter) rs121913122
NM_000143.4(FH):c.1097G>A (p.Ser366Asn) rs863224004
NM_000143.4(FH):c.1236+2T>G
NM_000143.4(FH):c.1240A>T (p.Lys414Ter) rs1573878145
NM_000143.4(FH):c.671_672del (p.Glu224fs) rs780001199
NM_000143.4(FH):c.689A>G (p.Lys230Arg) rs752232718
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del) rs786202220
NM_000143.4(FH):c.912_918del (p.Phe305fs) rs794727836
NM_000163.5(GHR):c.181C>T (p.Arg61Ter) rs121909358
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs) rs863225398
NM_000179.3(MSH6):c.1255C>T (p.Gln419Ter) rs762814792
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.1312_1381del (p.Met438fs)
NM_000179.3(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.3(MSH6):c.1392del (p.Ile464fs) rs2104340974
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs) rs63750854
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.1519dup (p.Arg507fs) rs876658881
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs) rs863224829
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.3(MSH6):c.1639del (p.Glu547fs) rs1572723786
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.3(MSH6):c.1767del (p.Pro591fs) rs1114167765
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter) rs730881816
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs) rs63750735
NM_000179.3(MSH6):c.1901T>A (p.Leu634Ter) rs63751097
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer) rs267608082
NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter) rs1114167709
NM_000179.3(MSH6):c.1969del (p.Gln657fs) rs876661205
NM_000179.3(MSH6):c.2050del (p.Ala683_Leu684insTer) rs1553413424
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.3(MSH6):c.2079dup (p.Cys694fs) rs267608083
NM_000179.3(MSH6):c.2147_2148del (p.Thr716fs) rs786204048
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter) rs63751127
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.2260dup (p.Thr754fs) rs1553413640
NM_000179.3(MSH6):c.2287_2404dup (p.Pro802delinsArgTyrLeuProTyrSerPheTrpTer)
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs) rs587779243
NM_000179.3(MSH6):c.2690dup (p.Asn897fs) rs1553414010
NM_000179.3(MSH6):c.2719_2720del (p.Val907fs) rs63750904
NM_000179.3(MSH6):c.2735G>A (p.Trp912Ter) rs1060502876
NM_000179.3(MSH6):c.2739_2740dup (p.Thr914fs) rs1553414092
NM_000179.3(MSH6):c.2749dup (p.Asp917fs) rs1669506824
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs) rs730881827
NM_000179.3(MSH6):c.2863del (p.Tyr954_Leu955insTer) rs1114167714
NM_000179.3(MSH6):c.2906_2907del (p.Tyr969fs) rs786203924
NM_000179.3(MSH6):c.292_301del (p.Ala98fs) rs1572708580
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs) rs587782712
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs) rs1553414519
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer) rs267608042
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs) rs63750833
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3173-1_3173del rs587779256
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs) rs267608092
NM_000179.3(MSH6):c.3332_3335dup (p.Asp1112delinsGluTer) rs587782562
NM_000179.3(MSH6):c.3417del (p.Lys1140fs) rs1572736122
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3443del (p.Gly1148fs) rs1553332151
NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer) rs1114167767
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs) rs876661073
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs) rs63750194
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs) rs398123232
NM_000179.3(MSH6):c.3561_3565dup (p.Thr1189fs) rs891318615
NM_000179.3(MSH6):c.3602_3614delinsACA (p.Leu1201fs)
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.3(MSH6):c.3633dup (p.Val1212fs) rs587776706
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs) rs193922343
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs) rs1064794384
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs) rs1553333072
NM_000179.3(MSH6):c.3733_3739dup (p.Thr1247fs) rs1670054668
NM_000179.3(MSH6):c.3742_3745dup (p.Tyr1249fs) rs1558392265
NM_000179.3(MSH6):c.3743_3744insT (p.Tyr1249fs) rs786201084
NM_000179.3(MSH6):c.3798_3801+9del rs1553333168
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs) rs267608114
NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs) rs1558393070
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs) rs63751319
NM_000179.3(MSH6):c.3889dup (p.Ser1297fs) rs2104558375
NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs) rs587779295
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs) rs760190301
NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs) rs267608126
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_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.423del (p.Trp142fs) rs1114167728
NM_000179.3(MSH6):c.552_555del (p.Asn184fs) rs1023534466
NM_000179.3(MSH6):c.578del (p.Leu193fs) rs587782281
NM_000179.3(MSH6):c.675_676dup (p.Glu226fs) rs2104290462
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000179.3(MSH6):c.741dup (p.Arg248fs) rs267608041
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter) rs63749980
NM_000179.3(MSH6):c.809del (p.Lys270fs) rs1114167696
NM_000179.3(MSH6):c.80_83del (p.Ala27fs) rs1668116875
NM_000179.3(MSH6):c.908dup (p.Met303fs) rs1057517551
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000249.4(MLH1):c.-27C>A rs587779001
NM_000249.4(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.4(MLH1):c.1105dup (p.Ser369fs) rs1060500699
NM_000249.4(MLH1):c.116+1G>A rs267607709
NM_000249.4(MLH1):c.117-2A>G rs267607712
NM_000249.4(MLH1):c.1210_1211del (p.Leu404fs) rs63751015
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.4(MLH1):c.1246A>T (p.Lys416Ter) rs267607823
NM_000249.4(MLH1):c.1252_1253del (p.Asp418fs) rs63751118
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.4(MLH1):c.1349del (p.Asp450fs) rs2083448445
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1400del (p.Ser467fs) rs1064795515
NM_000249.4(MLH1):c.142C>T (p.Gln48Ter) rs587778913
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1522_1523del (p.Leu509fs) rs876658821
NM_000249.4(MLH1):c.1539_1542del (p.Ile513fs) rs2083719845
NM_000249.4(MLH1):c.1601del (p.Val534fs) rs1559575143
NM_000249.4(MLH1):c.1624C>T (p.Gln542Ter) rs63750192
NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs) rs1553662622
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.4(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs) rs863225378
NM_000249.4(MLH1):c.1810A>T (p.Lys604Ter) rs63750386
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser) rs63750899
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.4(MLH1):c.1990-1G>A rs267607884
NM_000249.4(MLH1):c.1990-1G>C rs267607884
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.1A>G (p.Met1Val) rs587778967
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2044_2045del (p.Met682fs) rs878853785
NM_000249.4(MLH1):c.2103+1G>A rs267607888
NM_000249.4(MLH1):c.2103G>C (p.Gln701His) rs63750603
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter) rs63750978
NM_000249.4(MLH1):c.2179_2182del (p.His727fs) rs267607898
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs) rs267607903
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.4(MLH1):c.232_243delinsATGTAAGG (p.Glu78_Thr81delinsMetTer) rs1575414321
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.4(MLH1):c.264dup (p.Glu89Ter)
NM_000249.4(MLH1):c.272T>G (p.Leu91Ter) rs63751137
NM_000249.4(MLH1):c.2T>C (p.Met1Thr) rs111052004
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.393_396del (p.Asp132fs) rs1559521039
NM_000249.4(MLH1):c.52del (p.Arg18fs) rs63749804
NM_000249.4(MLH1):c.545+3A>G rs267607760
NM_000249.4(MLH1):c.546-2A>G rs267607759
NM_000249.4(MLH1):c.588+5G>A rs267607768
NM_000249.4(MLH1):c.589-2A>G rs267607767
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.677+1G>T rs267607778
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.832del (p.Thr278fs) rs1064794122
NM_000249.4(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000249.4(MLH1):c.885-2A>G rs267607805
NM_000249.4(MLH1):c.997_1000del (p.Lys333fs) rs1553648149
NM_000249.4:c.1559_1667del
NM_000249.4:c.208_306del
NM_000251.2:c.-125_1076del
NM_000251.3(MSH2):c.1003del (p.Thr335fs) rs1673074932
NM_000251.3(MSH2):c.1008del (p.Gln337fs) rs879253899
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter) rs63750778
NM_000251.3(MSH2):c.1023del (p.Val342fs) rs864622340
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter) rs63750245
NM_000251.3(MSH2):c.1042C>T (p.Gln348Ter) rs979212552
NM_000251.3(MSH2):c.1042del (p.Gln348fs) rs1553353233
NM_000251.3(MSH2):c.1076+1G>A rs267607940
NM_000251.3(MSH2):c.1077-1G>C rs267607944
NM_000251.3(MSH2):c.1077-2A>C rs267607943
NM_000251.3(MSH2):c.1077_1276del rs1553356518
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter) rs63750558
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.11_12delinsC (p.Gln4fs) rs1558451119
NM_000251.3(MSH2):c.11dup (p.Pro5fs) rs730881775
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.3(MSH2):c.1273G>T (p.Glu425Ter) rs1064795063
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.1300del (p.Ala434fs)
NM_000251.3(MSH2):c.1386+2T>C rs1675076969
NM_000251.3(MSH2):c.1462_1463del (p.Leu488fs) rs876658834
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter) rs63750936
NM_000251.3(MSH2):c.1552C>T (p.Gln518Ter) rs63750780
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs) rs63749930
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.3(MSH2):c.1747_1748del (p.Asn583fs) rs1553367687
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter) rs63750047
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter) rs63750951
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val) rs63751640
NM_000251.3(MSH2):c.2030C>G (p.Thr677Arg) rs876660711
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg) rs63749993
NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter) rs587779136
NM_000251.3(MSH2):c.211+1G>T rs1114167883
NM_000251.3(MSH2):c.2113del (p.Val705fs) rs63749811
NM_000251.3(MSH2):c.212-1G>A rs267607914
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer) rs63751621
NM_000251.3(MSH2):c.2470C>T (p.Gln824Ter) rs63750623
NM_000251.3(MSH2):c.2485del (p.His829fs) rs63751117
NM_000251.3(MSH2):c.2634+2T>G rs876660546
NM_000251.3(MSH2):c.2647dup (p.Ile883fs) rs63750084
NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter) rs63750808
NM_000251.3(MSH2):c.321del (p.Gly108fs) rs1573436948
NM_000251.3(MSH2):c.340G>T (p.Glu114Ter) rs878853815
NM_000251.3(MSH2):c.34dup (p.Glu12fs) rs63750614
NM_000251.3(MSH2):c.350G>A (p.Trp117Ter) rs786202083
NM_000251.3(MSH2):c.351G>A (p.Trp117Ter) rs1558457486
NM_000251.3(MSH2):c.366+1G>T rs267607924
NM_000251.3(MSH2):c.380dup (p.Asn127fs) rs1558458884
NM_000251.3(MSH2):c.387_388del (p.Gln130fs) rs63750924
NM_000251.3(MSH2):c.421_422del (p.Met141fs) rs1553350680
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.3(MSH2):c.508C>T (p.Gln170Ter) rs63750843
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer) rs587779164
NM_000251.3(MSH2):c.577C>T (p.Gln193Ter) rs63751326
NM_000251.3(MSH2):c.645+1G>A rs267607689
NM_000251.3(MSH2):c.646-2A>G rs587779169
NM_000251.3(MSH2):c.806_807insTGTACCGCAGATT (p.Leu270fs) rs1064793863
NM_000251.3(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.3(MSH2):c.932del (p.Asn311fs) rs587779979
NM_000251.3(MSH2):c.943-1G>T rs12476364
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000264.5(PTCH1):c.279C>G (p.Tyr93Ter)
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.199T>C (p.Ser67Pro) rs5030842
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.428A>G (p.Asp143Gly) rs199475572
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.978G>A (p.Trp326Ter) rs1555203761
NM_000314.8(PTEN):c.176C>A (p.Ser59Ter) rs1060500116
NM_000314.8(PTEN):c.210-1G>A rs1114167621
NM_000314.8(PTEN):c.253+5G>T rs1554897889
NM_000314.8(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.8(PTEN):c.386_387delinsTT (p.Gly129Val) rs1554898141
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.510T>G (p.Ser170Arg) rs121909221
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.8(PTEN):c.545T>G (p.Leu182Ter) rs794729664
NM_000314.8(PTEN):c.548dup (p.Asn184fs) rs1554900593
NM_000314.8(PTEN):c.634+1G>T rs1114167622
NM_000314.8(PTEN):c.672_673insC (p.Tyr225fs) rs2132276692
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.799_800insTT (p.Lys267fs) rs1860552294
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter) rs587782607
NM_000314.8(PTEN):c.929del (p.Asp310fs) rs1589665989
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
NM_000368.5(TSC1):c.73_85dup (p.Phe29fs)
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000455.5(STK11):c.179dup (p.Tyr60Ter) rs876661012
NM_000455.5(STK11):c.250A>T (p.Lys84Ter) rs137853076
NM_000455.5(STK11):c.526G>A (p.Asp176Asn) rs730881979
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.5(STK11):c.930del (p.Lys311fs) rs1599929264
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1904-1G>A
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000465.4(BARD1):c.258T>A (p.Cys86Ter)
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter) rs752514155
NM_000465.4(BARD1):c.623dup (p.Lys209fs) rs587780033
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs) rs121908780
NM_000492.3(CFTR):c.2909delG rs397508458
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs) rs387906360
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs) rs121908785
NM_000492.4(CFTR):c.1211del rs1235397597
NM_000492.4(CFTR):c.1301_1307del (p.Ser434fs) rs397508186
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1393-1G>A rs397508200
NM_000492.4(CFTR):c.1418del (p.Gly473fs) rs397508205
NM_000492.4(CFTR):c.1469del (p.Phe490fs) rs775663783
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1543_1555del (p.Tyr515fs) rs1301983423
NM_000492.4(CFTR):c.1585-8G>A rs193922503
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.4(CFTR):c.168del (p.Glu56fs) rs397508269
NM_000492.4(CFTR):c.1692del (p.Asp565fs) rs193922505
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs) rs121908799
NM_000492.4(CFTR):c.2083dup (p.Glu695fs) rs397508339
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter) rs75115087
NM_000492.4(CFTR):c.233dup (p.Trp79fs) rs397508360
NM_000492.4(CFTR):c.2393dup (p.Gln799fs) rs397508372
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.4(CFTR):c.310del (p.Arg104fs) rs397508499
NM_000492.4(CFTR):c.313del (p.Ile105fs) rs121908801
NM_000492.4(CFTR):c.3161del (p.His1054fs) rs387906377
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs) rs121908789
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.4(CFTR):c.4058del (p.Gln1352_Leu1353insTer) rs1562928927
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.4(CFTR):c.579+1G>A rs77188391
NM_000492.4(CFTR):c.57G>A (p.Trp19Ter) rs397508762
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000500.9(CYP21A2):c.1451G>A (p.Arg484Gln) rs200005406
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) rs397509367
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs) rs387906510
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys) rs41464951
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu) rs41464951
NM_000517.4(HBA2):c.429A>T (p.Ter143Tyr) rs41412046
NM_000517.6(HBA2):c.*93_*94del rs63751268
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.118dup (p.Thr40fs) rs1596569673
NM_000517.6(HBA2):c.179G>A (p.Gly60Asp) rs281864846
NM_000517.6(HBA2):c.1A>G (p.Met1Val) rs121909803
NM_000517.6(HBA2):c.283G>A (p.Asp95Asn) rs281864878
NM_000517.6(HBA2):c.2del (p.Met1fs) rs63750678
NM_000517.6(HBA2):c.323del (p.Val108fs) rs1596570339
NM_000517.6(HBA2):c.345del (p.Ala116fs) rs746988006
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.379G>A (p.Asp127Asn) rs33933481
NM_000517.6(HBA2):c.379G>T (p.Asp127Tyr) rs33933481
NM_000517.6(HBA2):c.420del (p.Lys140fs) rs63750520
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser) rs41321345
NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter) rs281864550
NM_000517.6(HBA2):c.89T>C (p.Leu30Pro) rs41341344
NM_000517.6(HBA2):c.94_95del (p.Arg32fs) rs1057519637
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000518.4(HBB):c.-136C>G rs33994806
NM_000518.4(HBB):c.-79A>C rs34598529
NM_000518.4(HBB):c.-80T>A rs33980857
NM_000518.4(HBB):c.277C>T (p.His93Tyr) rs33924775
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.83C>A (p.Ala28Asp) rs33954632
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-142C>T rs34883338
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.-50_92del (p.Met1fs) rs1847579731
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.-80T>C rs33980857
NM_000518.5(HBB):c.-81A>G rs33981098
NM_000518.5(HBB):c.-82C>T rs34500389
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter) rs33982568
NM_000518.5(HBB):c.110del (p.Pro37fs) rs267607297
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.114del (p.Pro37_Trp38insTer)
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.126del (p.Phe43fs) rs35755331
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.143_146dup (p.Thr51fs) rs35619054
NM_000518.5(HBB):c.143dup (p.Asp48fs) rs35894115
NM_000518.5(HBB):c.146del (p.Leu49fs) rs1847562491
NM_000518.5(HBB):c.155del (p.Pro52fs) rs63750128
NM_000518.5(HBB):c.162del (p.Val55fs) rs1554917935
NM_000518.5(HBB):c.166del (p.Met56fs) rs1847560717
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) rs33995148
NM_000518.5(HBB):c.1A>G (p.Met1Val) rs34563000
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.22G>T (p.Glu8Ter) rs34948328
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.235del (p.Leu79fs) rs281865475
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.282del (p.Cys94fs) rs1847552371
NM_000518.5(HBB):c.287dup (p.Leu97fs) rs34937014
NM_000518.5(HBB):c.292_295dup (p.Val99fs) rs1564874901
NM_000518.5(HBB):c.294C>G (p.His98Gln) rs34515413
NM_000518.5(HBB):c.2T>A (p.Met1Lys) rs33941849
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.2T>G (p.Met1Arg) rs33941849
NM_000518.5(HBB):c.315+1G>T rs33945777
NM_000518.5(HBB):c.316-146T>G rs35328027
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-1G>C rs33952266
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.328G>C (p.Val110Leu) rs33969677
NM_000518.5(HBB):c.342dup (p.Leu115fs)
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.36del (p.Thr13fs) rs34856846
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.382C>T (p.Gln128Ter)
NM_000518.5(HBB):c.393T>A (p.Tyr131Ter) rs281864530
NM_000518.5(HBB):c.3G>A (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) rs35117167
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427
NM_000518.5(HBB):c.46del (p.Trp16fs) rs63749960
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.78dup (p.Glu27Ter) rs35619688
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) rs33950507
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+2T>A rs33956879
NM_000518.5(HBB):c.92+2T>G rs33956879
NM_000518.5(HBB):c.92+5G>T rs33915217
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-1G>A rs33943001
NM_000518.5(HBB):c.93-1G>C rs33943001
NM_000518.5(HBB):c.93-2A>C rs63750513
NM_000518.5(HBB):c.93-2A>G rs63750513
NM_000518.5(HBB):c.93-3T>G rs34527846
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.570+1G>A rs786204754
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4:c.191_694del
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1056_1060+3del rs879254770
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1130del (p.Cys377fs) rs1131692205
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter) rs201016593
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1358+1G>A rs775924858
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys) rs879254999
NM_000527.5(LDLR):c.172G>T (p.Glu58Ter) rs879254423
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn) rs875989929
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1851del (p.Val618fs) rs1568610747
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.1997G>A (p.Trp666Ter)
NM_000527.5(LDLR):c.1_67del (p.Met1fs)
NM_000527.5(LDLR):c.2031C>A (p.Cys677Ter)
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2140+1G>T rs145787161
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.5(LDLR):c.495G>A (p.Trp165Ter) rs879254546
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg) rs879254558
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.642G>A (p.Trp214Ter) rs879254606
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.653del (p.Gly218fs) rs137853966
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.680_682delinsCGGTATGGACTGCA (p.Asp227fs) rs879254637
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.6del (p.Trp4fs) rs875989888
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000535.6:c.354_988del
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) rs587779326
NM_000535.7(PMS2):c.1196dup (p.Gln400fs) rs1554298056
NM_000535.7(PMS2):c.1239dup (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs) rs1554297962
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter) rs863224496
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.1743del (p.Glu582fs) rs1057517801
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000535.7(PMS2):c.1864_1865del (p.Met622fs) rs1060503137
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer) rs786203073
NM_000535.7(PMS2):c.1912del (p.Gln638fs) rs1562626070
NM_000535.7(PMS2):c.1936del (p.Arg646fs) rs1782934080
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2174+1G>T
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.353+2T>C rs111466480
NM_000535.7(PMS2):c.354-1G>A rs786203954
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.3G>C (p.Met1Ile) rs1554309086
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter) rs760228510
NM_000535.7(PMS2):c.730C>T (p.Gln244Ter) rs1562671039
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.790_803+5del
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.862_863del (p.Gln288fs) rs63750246
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_000538.4(RFXAP):c.323T>A (p.Leu108Ter) rs754240018
NM_000546.6(TP53):c.271dup (p.Trp91fs) rs1597374152
NM_000546.6(TP53):c.489C>G (p.Tyr163Ter) rs1567553246
NM_000546.6(TP53):c.509_512del (p.Thr170fs) rs1555526082
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.708C>A (p.Tyr236Ter)
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.736A>G (p.Met246Val) rs483352695
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000552.5(VWF):c.1548T>A (p.Tyr516Ter) rs1800379
NM_000552.5(VWF):c.2377C>T (p.Gln793Ter) rs2136440316
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.2435dup (p.Met814fs) rs62643632
NM_000552.5(VWF):c.3389G>T (p.Cys1130Phe) rs267607324
NM_000552.5(VWF):c.3430T>G (p.Trp1144Gly) rs267607325
NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys) rs267607326
NM_000552.5(VWF):c.3467C>T (p.Thr1156Met) rs267607328
NM_000552.5(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.5(VWF):c.3925A>G (p.Ile1309Val) rs61749389
NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter) rs267607337
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4006C>T (p.Arg1336Ter) rs1565832211
NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu) rs61749400
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.5(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu) rs61750072
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000552.5(VWF):c.4790G>A (p.Arg1597Gln) rs61750577
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.5207del (p.Gly1736fs)
NM_000552.5(VWF):c.5455+1G>A rs2136408263
NM_000552.5(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) rs28928878
NM_000558.5(HBA1):c.178G>C (p.Gly60Arg) rs281864895
NM_000558.5(HBA1):c.187del (p.Val63fs) rs1377412693
NM_000558.5(HBA1):c.43T>C (p.Trp15Arg) rs33964317
NM_000558.5(HBA1):c.94_95del (p.Arg32fs) rs1596573477
NM_000558.5(HBA1):c.95+1G>A rs1201093320
NM_001035511.2(SDHC):c.242-408_*4118del
NM_001042492.3(NF1):c.1174C>T (p.Gln392Ter) rs1597682137
NM_001042492.3(NF1):c.1440del (p.Lys480fs) rs2066786100
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.2409+1G>T rs1555614022
NM_001042492.3(NF1):c.3256C>T (p.Gln1086Ter) rs2067123355
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs) rs1555615472
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.4339C>G (p.Gln1447Glu) rs1135402857
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.6041del (p.Phe2014fs) rs2151553250
NM_001042492.3(NF1):c.6585_6586del (p.Glu2195fs) rs1131691084
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter) rs1555534918
NM_001042492.3(NF1):c.6733C>T (p.Gln2245Ter) rs1597845013
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.730G>A (p.Glu244Lys) rs1567826188
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs) rs1553125243
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001354712.2(THRB):c.1010_1012del (p.Thr337del) rs387906515
NM_001354712.2(THRB):c.1012C>T (p.Arg338Trp) rs121918697
NM_001354712.2(THRB):c.1033G>A (p.Gly345Ser) rs121918686
NM_001354712.2(THRB):c.1034G>T (p.Gly345Val) rs28999970
NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr) rs28933408
NM_001354712.2(THRB):c.1357C>T (p.Pro453Ser) rs28933408
NM_001354712.2(THRB):c.700G>A (p.Ala234Thr) rs121918694
NM_001354712.2(THRB):c.728G>A (p.Arg243Gln) rs121918706
NM_001354712.2(THRB):c.803C>A (p.Ala268Asp)
NM_001354712.2(THRB):c.928A>T (p.Met310Leu) rs1553611094
NM_001354712.2(THRB):c.938T>C (p.Met313Thr) rs1553611083
NM_001354712.2(THRB):c.947G>A (p.Arg316His) rs121918695
NM_001354712.2(THRB):c.949G>A (p.Ala317Thr) rs121918690
NM_001354712.2(THRB):c.958C>T (p.Arg320Cys) rs121918696
NM_001354712.2(THRB):c.959G>A (p.Arg320His) rs121918693
NM_001370259.2(MEN1):c.1268G>A (p.Trp423Ter)
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter) rs863224526
NM_001370259.2(MEN1):c.1546del (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.211_212del (p.Pro71fs) rs386134251
NM_001370259.2(MEN1):c.446-2A>G rs886042035
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs) rs794728640
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter) rs1060503789
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs) rs1205964567
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.992del (p.Thr331fs) rs397514398
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter) rs777054839
NM_002485.5(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1651dup (p.Arg551fs) rs766044684
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs) rs1178384498
NM_002485.5(NBN):c.445del (p.His149fs) rs1554567892
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.808_809del (p.Val270fs) rs786202490
NM_002878.4(RAD51D):c.326dup (p.Gly110fs) rs730882119
NM_002878.4(RAD51D):c.547C>T (p.Gln183Ter) rs587782695
NM_002878.4(RAD51D):c.577-2A>G rs1555567649
NM_002878.4(RAD51D):c.81del (p.Val28fs) rs1064793952
NM_002878.4(RAD51D):c.94_95del (p.Val32fs) rs786203137
NM_003000.3(SDHB):c.72+1G>T rs587782703
NM_003072.5(SMARCA4):c.3910C>T (p.Gln1304Ter) rs2146678594
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer) rs1553997617
NM_004168.4(SDHA):c.667del (p.Asp223fs) rs587782077
NM_004329.3(BMPR1A):c.1057C>T (p.Gln353Ter) rs2133592454
NM_004329.3(BMPR1A):c.133_134del (p.Glu45fs) rs1564714804
NM_004329.3(BMPR1A):c.373del (p.Cys125fs) rs1589768027
NM_004329.3(BMPR1A):c.455del (p.Arg152fs) rs1843286694
NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter) rs759363072
NM_004360.4(CDH1):c.2440_2649del
NM_004360.5(CDH1):c.1476_1477del (p.Arg492fs) rs876659208
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs) rs876658261
NM_004360.5(CDH1):c.1565+1G>T rs587780113
NM_004360.5(CDH1):c.1605del (p.Asn536fs) rs1596960393
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg) rs746481984
NM_004360.5(CDH1):c.1711+1G>A rs886041161
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter) rs121964877
NM_004360.5(CDH1):c.1999del (p.Leu667fs) rs786202033
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter) rs587780787
NM_004360.5(CDH1):c.2296-1G>A rs1057517542
NM_004360.5(CDH1):c.26C>A (p.Ser9Ter) rs1555509646
NM_004360.5(CDH1):c.377del (p.Pro126fs) rs1060501215
NM_004360.5(CDH1):c.3G>A (p.Met1Ile) rs878854691
NM_004360.5(CDH1):c.51_163+2del rs1567471351
NM_004360.5(CDH1):c.603del (p.Val202fs) rs1131690809
NM_004360.5(CDH1):c.801del (p.Phe267fs)
NM_004360.5(CDH1):c.833-2A>G rs1555515596
NM_004655.4(AXIN2):c.1426C>T (p.Gln476Ter)
NM_004656.4(BAP1):c.1777C>T (p.Gln593Ter) rs1064795638
NM_004656.4(BAP1):c.754_758dup (p.Gln253fs)
NM_005359.6(SMAD4):c.1045dup (p.Thr349fs) rs1599195433
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6:c.1309_1447del
NM_005732.4(RAD50):c.1280_1283del (p.Lys427fs)
NM_005732.4(RAD50):c.1722dup (p.Gln575fs) rs587782543
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter) rs876660364
NM_007194.3:c.-72_1632del
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter) rs2146151890
NM_007194.4(CHEK2):c.1085_1088del (p.Cys362fs)
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs) rs1060502684
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer) rs765664259
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.31dup (p.Gln11fs) rs1555932913
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.507del (p.Phe169fs) rs587780183
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter) rs1233699096
NM_007194.4(CHEK2):c.952del (p.Arg318fs) rs749153163
NM_007294.3(BRCA1):c.457_458ins21 (p.?)
NM_007294.3:c.-232_*1383del
NM_007294.3:c.-232_80del
NM_007294.3:c.442_593del
NM_007294.3:c.5075_5193del
NM_007294.3:c.548_4185del
NM_007294.4(BRCA1):c.1016del (p.Lys339fs) rs80357569
NM_007294.4(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.4(BRCA1):c.1039_1040del (p.Leu347fs) rs397508827
NM_007294.4(BRCA1):c.1045G>T (p.Glu349Ter) rs80357338
NM_007294.4(BRCA1):c.1058G>A (p.Trp353Ter) rs80356908
NM_007294.4(BRCA1):c.1058_1062del (p.Glu352_Trp353insTer) rs1555592576
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) rs80359880
NM_007294.4(BRCA1):c.1086_1141del (p.Asn363fs) rs80359875
NM_007294.4(BRCA1):c.1110del (p.Pro371fs) rs1555592474
NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter) rs80357468
NM_007294.4(BRCA1):c.1127del (p.Asn376fs) rs80357821
NM_007294.4(BRCA1):c.112_113del (p.Lys38fs) rs80357949
NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser) rs80357164
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.117_118del (p.Cys39_Asp40delinsTer) rs80357972
NM_007294.4(BRCA1):c.1205dup (p.Ser403fs) rs1555592219
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.1326T>A (p.Cys442Ter) rs397508854
NM_007294.4(BRCA1):c.133_134delAA (p.Lys45fs) rs397508857
NM_007294.4(BRCA1):c.134+1G>C rs80358043
NM_007294.4(BRCA1):c.134+2T>C rs80358131
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer) rs80357969
NM_007294.4(BRCA1):c.1386del (p.Thr464fs) rs80357722
NM_007294.4(BRCA1):c.139dup (p.Cys47fs) rs80357734
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs) rs879255476
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.1421T>G (p.Leu474Ter) rs80357490
NM_007294.4(BRCA1):c.1434del (p.Glu479fs) rs431825386
NM_007294.4(BRCA1):c.143del (p.Met48fs) rs80357637
NM_007294.4(BRCA1):c.1450G>T (p.Gly484Ter) rs80357304
NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter) rs62625303
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter) rs80357010
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.1510del (p.Arg504fs) rs80357908
NM_007294.4(BRCA1):c.1512dup (p.Lys505Ter) rs398122636
NM_007294.4(BRCA1):c.1523del (p.Pro508fs) rs80357782
NM_007294.4(BRCA1):c.1556del (p.Lys519fs) rs80357662
NM_007294.4(BRCA1):c.1600C>T (p.Gln534Ter) rs142074233
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter) rs80356893
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter) rs80356904
NM_007294.4(BRCA1):c.1630C>T (p.Gln544Ter) rs80356952
NM_007294.4(BRCA1):c.1674del (p.Gly559fs) rs80357600
NM_007294.4(BRCA1):c.1695dup (p.Lys566fs) rs273897664
NM_007294.4(BRCA1):c.1713_1717del (p.Glu572fs) rs80357640
NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter) rs80357471
NM_007294.4(BRCA1):c.1812del (p.Ala605fs) rs80357927
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs) rs80357585
NM_007294.4(BRCA1):c.1860del (p.His621fs) rs730881459
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs) rs80357516
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter) rs80357086
NM_007294.4(BRCA1):c.1892dup (p.Ser632fs) rs80357932
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.1916T>A (p.Leu639Ter) rs80357267
NM_007294.4(BRCA1):c.1918C>T (p.Gln640Ter) rs886039981
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.1921del (p.Ile641fs) rs397507194
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) rs80357526
NM_007294.4(BRCA1):c.1953dup (p.Lys652fs) rs80357753
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.4(BRCA1):c.19_47del (p.Arg7fs) rs80359871
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter) rs863224510
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter) rs273898674
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.2090dup (p.Glu699fs) rs886039996
NM_007294.4(BRCA1):c.2101A>T (p.Lys701Ter) rs876660282
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter) rs80357298
NM_007294.4(BRCA1):c.2105dup (p.Leu702fs) rs80357880
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.212+1G>A rs80358042
NM_007294.4(BRCA1):c.212+2T>C rs80358026
NM_007294.4(BRCA1):c.2125_2126insA (p.Phe709fs) rs80357871
NM_007294.4(BRCA1):c.2125_2126insAGT (p.Phe709Ter) rs1555590428
NM_007294.4(BRCA1):c.212G>A (p.Arg71Lys) rs80356913
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2130delinsAA (p.Cys712fs) rs1060502332
NM_007294.4(BRCA1):c.2138C>A (p.Ser713Ter) rs80357233
NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter) rs80356875
NM_007294.4(BRCA1):c.2158_2159del (p.Glu720fs) rs1567796780
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs) rs273898681
NM_007294.4(BRCA1):c.2194G>T (p.Glu732Ter) rs80357426
NM_007294.4(BRCA1):c.2197G>T (p.Glu733Ter) rs397508949
NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs) rs80357507
NM_007294.4(BRCA1):c.2199del (p.Lys734fs) rs80357944
NM_007294.4(BRCA1):c.2206G>T (p.Glu736Ter)
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter) rs80357574
NM_007294.4(BRCA1):c.2215A>T (p.Lys739Ter) rs56329598
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs) rs80357802
NM_007294.4(BRCA1):c.2217dup (p.Val740fs) rs80357802
NM_007294.4(BRCA1):c.2241del (p.Asp749fs) rs80357650
NM_007294.4(BRCA1):c.2263del (p.Glu755fs) rs80357960
NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter) rs80357449
NM_007294.4(BRCA1):c.2296_2297del (p.Glu765_Ser766insTer) rs80357780
NM_007294.4(BRCA1):c.2299del (p.Ser767fs) rs80357786
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter) rs80357063
NM_007294.4(BRCA1):c.2314del (p.Val772fs) rs80357957
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs) rs431825390
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.4(BRCA1):c.2386_2387delinsT (p.Lys795_Thr796insTer) rs876660305
NM_007294.4(BRCA1):c.2389_2390del (p.Glu797fs) rs80357695
NM_007294.4(BRCA1):c.2406_2409del (p.Gln804fs) rs80357674
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.2418del (p.Ala807fs) rs879255281
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2488_2504dup (p.His835fs) rs483353078
NM_007294.4(BRCA1):c.2517_2518del (p.His839fs) rs397508974
NM_007294.4(BRCA1):c.2551G>T (p.Glu851Ter) rs398122662
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter) rs80357131
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter) rs80356925
NM_007294.4(BRCA1):c.2612_2613insT (p.Phe872fs) rs80357948
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs) rs80357971
NM_007294.4(BRCA1):c.2704del (p.Glu902fs) rs886040064
NM_007294.4(BRCA1):c.2709_2710del (p.Cys903_Glu904delinsTer) rs886040065
NM_007294.4(BRCA1):c.2719_2722del (p.Glu907fs) rs80357731
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.273_274del (p.Ala92fs) rs587776485
NM_007294.4(BRCA1):c.2748del (p.Asn916fs) rs398122667
NM_007294.4(BRCA1):c.2764_2767del (p.Thr922fs) rs80357822
NM_007294.4(BRCA1):c.2767_2770del (p.Val923fs) rs80357661
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs) rs80357832
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs) rs386134270
NM_007294.4(BRCA1):c.2860_2864del (p.Leu954fs) rs1597867185
NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter) rs80357295
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) rs80357819
NM_007294.4(BRCA1):c.2901_2902dup (p.Pro968fs) rs398122670
NM_007294.4(BRCA1):c.2921T>A (p.Leu974Ter) rs80356872
NM_007294.4(BRCA1):c.2923C>T (p.Gln975Ter) rs80357497
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) rs80357115
NM_007294.4(BRCA1):c.2934del (p.Arg979fs) rs80357741
NM_007294.4(BRCA1):c.2940del (p.Pro981fs) rs80357876
NM_007294.4(BRCA1):c.2952del (p.Ile986fs) rs80357627
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs) rs80357829
NM_007294.4(BRCA1):c.2995_2996delinsTA (p.Leu999Ter) rs273899692
NM_007294.4(BRCA1):c.2999del (p.Glu1000fs) rs80357991
NM_007294.4(BRCA1):c.2T>A (p.Met1Lys) rs80357111
NM_007294.4(BRCA1):c.3005del (p.Asn1002fs) rs80357601
NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer) rs80357617
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs) rs80357749
NM_007294.4(BRCA1):c.302-2A>C rs80358011
NM_007294.4(BRCA1):c.3029_3030del (p.Pro1010fs) rs80357510
NM_007294.4(BRCA1):c.3037_3038del (p.Glu1013fs) rs397507208
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs) rs80357856
NM_007294.4(BRCA1):c.3066del (p.Thr1022_Val1023insTer) rs786202906
NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs) rs80357647
NM_007294.4(BRCA1):c.3113_3114del (p.Glu1038fs) rs1567792876
NM_007294.4(BRCA1):c.3136G>T (p.Glu1046Ter) rs1555588329
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter) rs80357424
NM_007294.4(BRCA1):c.3181del (p.Glu1060_Ile1061insTer) rs80357702
NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs) rs80357511
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs) rs80357635
NM_007294.4(BRCA1):c.3239T>A (p.Leu1080Ter) rs80357145
NM_007294.4(BRCA1):c.3254_3255dup (p.Leu1086fs) rs80357624
NM_007294.4(BRCA1):c.3262del (p.Val1088fs) rs397509049
NM_007294.4(BRCA1):c.3279del (p.Tyr1094fs) rs397509050
NM_007294.4(BRCA1):c.3285del (p.Lys1095fs) rs397509051
NM_007294.4(BRCA1):c.3288_3289del (p.Leu1098fs) rs80357686
NM_007294.4(BRCA1):c.329dup (p.Glu111fs) rs80357604
NM_007294.4(BRCA1):c.3329_3330del (p.Lys1110fs) rs80357525
NM_007294.4(BRCA1):c.3329dup (p.Gln1111fs) rs80357575
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.3333del (p.Glu1112fs) rs80357966
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) rs397509058
NM_007294.4(BRCA1):c.3351dup (p.Gln1118fs) rs80357785
NM_007294.4(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer) rs80357945
NM_007294.4(BRCA1):c.3365_3366del (p.Thr1122fs) rs80357892
NM_007294.4(BRCA1):c.3375_3376del (p.Pro1126fs) rs80357828
NM_007294.4(BRCA1):c.3389C>G (p.Ser1130Ter) rs80357405
NM_007294.4(BRCA1):c.3397_3398del (p.Leu1133fs) rs80357577
NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter) rs80357018
NM_007294.4(BRCA1):c.3424del (p.Ala1142fs) rs1555587718
NM_007294.4(BRCA1):c.3477_3480del (p.Ile1159fs) rs80357781
NM_007294.4(BRCA1):c.3481G>T (p.Glu1161Ter) rs786203438
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.4(BRCA1):c.3612del (p.Ala1206fs) rs80357980
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.4(BRCA1):c.3642_3643dup (p.Asn1215fs) rs80357805
NM_007294.4(BRCA1):c.3644_3648del (p.Asn1215fs) rs1060505051
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs) rs80357902
NM_007294.4(BRCA1):c.3664G>T (p.Glu1222Ter) rs80357356
NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs) rs80357797
NM_007294.4(BRCA1):c.3672del (p.Cys1225fs) rs398122677
NM_007294.4(BRCA1):c.3679C>T (p.Gln1227Ter) rs886040159
NM_007294.4(BRCA1):c.3689T>G (p.Leu1230Ter) rs80357162
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
NM_007294.4(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer) rs797044631
NM_007294.4(BRCA1):c.3706_3707del (p.Asn1236fs) rs80357666
NM_007294.4(BRCA1):c.3706_3713del (p.Asn1236fs) rs80357552
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter) rs80356903
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter) rs28897686
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs) rs80357520
NM_007294.4(BRCA1):c.3759dup (p.Lys1254Ter) rs80357687
NM_007294.4(BRCA1):c.3761_3762insTT (p.Lys1254fs) rs80357928
NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs) rs80357848
NM_007294.4(BRCA1):c.376C>T (p.Gln126Ter) rs1085307902
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs) rs80357579
NM_007294.4(BRCA1):c.3771_3772delinsC (p.Glu1257fs) rs397507218
NM_007294.4(BRCA1):c.3785C>A (p.Ser1262Ter) rs80357269
NM_007294.4(BRCA1):c.37_40del (p.Asn13fs) rs80357530
NM_007294.4(BRCA1):c.3813dup (p.Asn1272Ter) rs397509108
NM_007294.4(BRCA1):c.3833del (p.Lys1278fs) rs1135401868
NM_007294.4(BRCA1):c.3839_3843delinsAGGC (p.Ser1280_Gln1281delinsTer) rs273900717
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter) rs80356866
NM_007294.4(BRCA1):c.3858_3861del (p.Ser1286fs) rs80357842
NM_007294.4(BRCA1):c.3869_3870del (p.Lys1290fs) rs80357918
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.4(BRCA1):c.3901_3902del (p.Cys1300_Ser1301insTer) rs80357646
NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter) rs80356888
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_007294.4(BRCA1):c.391A>T (p.Arg131Ter) rs80357207
NM_007294.4(BRCA1):c.3931_3934del (p.Asn1311fs) rs80357864
NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter) rs80357318
NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter) rs80357262
NM_007294.4(BRCA1):c.3967del (p.Gln1323fs) rs397509122
NM_007294.4(BRCA1):c.4015G>T (p.Glu1339Ter) rs80357021
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs) rs80357727
NM_007294.4(BRCA1):c.4057G>T (p.Glu1353Ter) rs80357178
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.406dup (p.Arg136fs) rs80357709
NM_007294.4(BRCA1):c.4088C>G (p.Ser1363Ter) rs398122680
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter) rs80357259
NM_007294.4(BRCA1):c.4120_4121del (p.Glu1373_Ser1374insTer) rs80357787
NM_007294.4(BRCA1):c.4136_4137del (p.Val1378_Ser1379insTer) rs397509141
NM_007294.4(BRCA1):c.4146_4155dup (p.Ser1386fs) rs483353079
NM_007294.4(BRCA1):c.4161_4162del (p.Gln1388fs) rs80357565
NM_007294.4(BRCA1):c.4162C>T (p.Gln1388Ter) rs876660601
NM_007294.4(BRCA1):c.4163_4166del (p.Gln1388fs) rs80357532
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4185+2_4185+22delinsA rs273900724
NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=) rs80356857
NM_007294.4(BRCA1):c.4186C>T (p.Gln1396Ter) rs80357011
NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter) rs886040218
NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter) rs80357305
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4321dup (p.Asp1441fs) rs80357748
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4339C>T (p.Gln1447Ter) rs80357067
NM_007294.4(BRCA1):c.4357+1G>T rs80358027
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs) rs786204267
NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter) rs80356997
NM_007294.4(BRCA1):c.4389C>G (p.Tyr1463Ter) rs80356997
NM_007294.4(BRCA1):c.4389_4392dup (p.Ile1465fs) rs879255282
NM_007294.4(BRCA1):c.4391del (p.Pro1464fs) rs80357916
NM_007294.4(BRCA1):c.4400_4418delinsTTT (p.Gln1467fs) rs876659310
NM_007294.4(BRCA1):c.4401del (p.Asn1468fs) rs587781611
NM_007294.4(BRCA1):c.4408G>T (p.Glu1470Ter) rs886040230
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter) rs138608489
NM_007294.4(BRCA1):c.4484+1G>A rs80358063
NM_007294.4(BRCA1):c.4484+2T>G rs1555582520
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.4(BRCA1):c.4493del (p.Pro1498fs) rs398122687
NM_007294.4(BRCA1):c.4508C>G (p.Ser1503Ter) rs80357437
NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter) rs786202631
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs) rs80357813
NM_007294.4(BRCA1):c.4611_4612insG (p.Gln1538fs) rs80357915
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter) rs80356992
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4678G>T (p.Gly1560Ter) rs80357349
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer) rs80357887
NM_007294.4(BRCA1):c.4724del (p.Pro1575fs) rs397509191
NM_007294.4(BRCA1):c.4749_4750del (p.Arg1583fs) rs80357641
NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs) rs80357837
NM_007294.4(BRCA1):c.4760C>G (p.Ser1587Ter) rs397509195
NM_007294.4(BRCA1):c.4781del (p.Pro1594fs) rs2052409873
NM_007294.4(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs) rs730880287
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4883del (p.Met1628fs)
NM_007294.4(BRCA1):c.4930G>T (p.Glu1644Ter) rs397509205
NM_007294.4(BRCA1):c.4933del (p.Arg1645fs) rs80357833
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs) rs879255295
NM_007294.4(BRCA1):c.4986+1G>T rs80358162
NM_007294.4(BRCA1):c.4987_5074del (p.Val1665Serfs)
NM_007294.4(BRCA1):c.4996_4997dup (p.Lys1667fs) rs1555579782
NM_007294.4(BRCA1):c.5019del (p.His1673fs) rs886040260
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs) rs80357623
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) rs80357896
NM_007294.4(BRCA1):c.5042del (p.Thr1681fs) rs886040265
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.4(BRCA1):c.5074+1G>A rs80358053
NM_007294.4(BRCA1):c.5074+2T>A rs80358089
NM_007294.4(BRCA1):c.5075-2A>G rs80358066
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter) rs80356896
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.5116G>T (p.Gly1706Ter) rs886040864
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer) rs80357997
NM_007294.4(BRCA1):c.5152+1G>C rs80358094
NM_007294.4(BRCA1):c.5152+5G>A rs80358165
NM_007294.4(BRCA1):c.5153-1G>A rs80358137
NM_007294.4(BRCA1):c.5153-1G>C rs80358137
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5176del (p.Arg1726fs) rs876658478
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5179A>T (p.Lys1727Ter) rs80357347
NM_007294.4(BRCA1):c.5193+1G>A rs80358004
NM_007294.4(BRCA1):c.5193+1del rs397509236
NM_007294.4(BRCA1):c.5194-1G>T rs80358173
NM_007294.4(BRCA1):c.5194-2A>G rs80358069
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.520del (p.Gln174fs) rs80357639
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5228del (p.Gly1743fs) rs1567764473
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.4(BRCA1):c.5249del (p.Lys1750fs) rs879253993
NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr) rs397509246
NM_007294.4(BRCA1):c.5259del (p.Glu1754fs) rs80357925
NM_007294.4(BRCA1):c.5260G>T (p.Glu1754Ter) rs80357432
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_007294.4(BRCA1):c.5277+1del rs273901754
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.4(BRCA1):c.5307T>A (p.Tyr1769Ter) rs397509258
NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs) rs80357823
NM_007294.4(BRCA1):c.5332+1G>A rs80358041
NM_007294.4(BRCA1):c.5333-1G>A rs80358126
NM_007294.4(BRCA1):c.5333_5406del (p.Asp1778fs) rs2051071982
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs) rs80357590
NM_007294.4(BRCA1):c.5345G>A (p.Trp1782Ter) rs80357219
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter) rs80357284
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter) rs80356969
NM_007294.4(BRCA1):c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp) rs786203663
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs) rs879254116
NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter) rs80357055
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5406+4A>G rs397509279
NM_007294.4(BRCA1):c.5407-1G>A rs80358029
NM_007294.4(BRCA1):c.5407-2A>G rs80358002
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_007294.4(BRCA1):c.547+2T>A rs80358047
NM_007294.4(BRCA1):c.5470_5477delATTGGGCA rs80357973
NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs) rs273902775
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter) rs80357307
NM_007294.4(BRCA1):c.55C>T (p.Gln19Ter) rs397509299
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.697_698del (p.Val233fs) rs80357747
NM_007294.4(BRCA1):c.69_79delGTGTCCCATCT (p.Cys24fs) rs80357696
NM_007294.4(BRCA1):c.783T>G (p.Tyr261Ter) rs80357321
NM_007294.4(BRCA1):c.794_795del (p.Ser265fs) rs80357955
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.799dup (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.809del (p.His270fs) rs80357965
NM_007294.4(BRCA1):c.81-1G>A rs80358018
NM_007294.4(BRCA1):c.81-2A>C rs397509326
NM_007294.4(BRCA1):c.81-2del rs273902791
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs) rs80357989
NM_007294.4(BRCA1):c.848T>G (p.Leu283Ter) rs273902792
NM_007294.4(BRCA1):c.850C>T (p.Gln284Ter) rs397509330
NM_007294.4(BRCA1):c.851_852del (p.Gln284fs) rs80357719
NM_007294.4(BRCA1):c.85G>T (p.Glu29Ter) rs80357443
NM_007294.4(BRCA1):c.895_896del (p.Val299fs) rs80357670
NM_007294.4(BRCA1):c.89T>A (p.Leu30Ter) rs397509331
NM_007294.4(BRCA1):c.922_924delinsT (p.Lys307_Ser308insTer) rs397509335
NM_007294.4(BRCA1):c.929del (p.Gln310fs) rs80357844
NM_007294.4(BRCA1):c.930del (p.Gln310fs) rs80357689
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter) rs80357292
NM_007294.4(BRCA1):c.963G>A (p.Trp321Ter) rs886040335
NM_007294.4:c.4186_4357dup
NM_007294.4:c.445_650del
NM_007298.4(BRCA1):c.1049-3_1172del
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) rs768006618
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) rs75873440
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1859G>C (p.Cys620Ser) rs77503355
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs) rs587776410
NM_024675.4(PALB2):c.1059del (p.Lys353fs) rs730881872
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter) rs757369748
NM_024675.4(PALB2):c.1186dup (p.Cys396fs) rs1555461413
NM_024675.4(PALB2):c.1291_1292del (p.His432fs) rs786203057
NM_024675.4(PALB2):c.1317del (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1424dup (p.Arg476fs) rs1555461294
NM_024675.4(PALB2):c.1425_1426insT (p.Arg476Ter) rs876659341
NM_024675.4(PALB2):c.1546del (p.Arg516fs) rs587781560
NM_024675.4(PALB2):c.1551_1552del (p.Lys517fs) rs1567220758
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter) rs587776413
NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter) rs118203997
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) rs1060502734
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.4(PALB2):c.1709_1710del (p.Glu570fs) rs1597091425
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.1924del (p.Met642fs) rs730881865
NM_024675.4(PALB2):c.2006del (p.Glu669fs) rs587778584
NM_024675.4(PALB2):c.2052del (p.Arg686fs) rs587782680
NM_024675.4(PALB2):c.2120del (p.Pro707fs) rs587780210
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer) rs876659571
NM_024675.4(PALB2):c.2298dup (p.Val767fs) rs1555460407
NM_024675.4(PALB2):c.2325dup (p.Phe776fs) rs876659997
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs) rs747148023
NM_024675.4(PALB2):c.2470del (p.Cys824fs) rs876658348
NM_024675.4(PALB2):c.2563del (p.Leu855fs) rs1966853795
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer) rs767633741
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs) rs730881868
NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter) rs1304351755
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2748+1G>A rs753153576
NM_024675.4(PALB2):c.2850del (p.Ser951fs) rs1060499824
NM_024675.4(PALB2):c.2931dup (p.Val978fs) rs587782570
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) rs587781840
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter) rs876659036
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer) rs886039503
NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs) rs587782337
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs) rs587776424
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs) rs587776425
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.688G>T (p.Glu230Ter) rs730881905
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_031885.5(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs) rs747214372
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter) rs775537066
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
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.3004_3005insTGACAGCT (p.Trp1002fs) rs763443434
NM_032043.3(BRIP1):c.394dup (p.Thr132fs) rs587781416
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs) rs1555616143
NM_032043.3(BRIP1):c.890del (p.Lys297fs) rs786202610
NM_058195.4(CDKN2A):c.194-3653G>T rs1800586
NM_058216.2:c.572-?_705+?del
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter) rs786201909
NM_058216.3(RAD51C):c.692_694delinsAA (p.Ser231_Glu232delinsTer) rs2143801832
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
NM_144997.7(FLCN):c.1015C>T (p.Gln339Ter) rs2144894376
NM_144997.7(FLCN):c.1177-2A>G rs1057520528
NM_144997.7(FLCN):c.1252del (p.Leu418fs) rs864622651
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1286_1287dup (p.Val430fs) rs1555607640
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs) rs879255677
NM_144997.7(FLCN):c.1367_1398del (p.Asp456fs)
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter) rs137852929
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.250-2A>G rs398124533
NM_144997.7(FLCN):c.33C>A (p.Cys11Ter) rs754616167
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter) rs398124538
NM_144997.7(FLCN):c.890_893del (p.Glu297fs) rs398124541
NM_144997.7(FLCN):c.927_954dup (p.Gly319fs) rs398124542
NM_144997.7(FLCN):c.933del (p.Val312fs) rs886041041
NM_177438.3(DICER1):c.1870C>T (p.Arg624Ter) rs754818927
NM_177438.3(DICER1):c.3540C>A (p.Tyr1180Ter) rs886037704
Single allele

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