ClinVar Miner

List of variants reported as pathogenic for breast disorder

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4371
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_000949.7(PRLR):c.508A>C (p.Ile170Leu) rs72478580 0.01896
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) rs121917739 0.00171
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_001122955.3(BSCL2):c.-291G>A rs190405606 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_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_000059.4(BRCA2):c.8572C>T (p.Gln2858Ter) rs80359112 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321 0.00006
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164 0.00004
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 0.00004
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000059.4(BRCA2):c.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_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 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_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 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_000051.4(ATM):c.2554C>T (p.Gln852Ter) rs758081262 0.00003
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 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.9235del (p.Val3079fs) rs397507422 0.00003
NM_000465.4(BARD1):c.1111A>T (p.Lys371Ter) rs1364256214 0.00003
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) rs377153250 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter) rs879253880 0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 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_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 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_000051.4(ATM):c.3993+1G>A rs200196781 0.00002
NM_000051.4(ATM):c.3994-2A>G rs587782276 0.00002
NM_000051.4(ATM):c.67C>T (p.Arg23Ter) rs746235533 0.00002
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
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_000465.4(BARD1):c.1212C>G (p.Tyr404Ter) rs587782681 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter) rs765769406 0.00002
NM_005732.4(RAD50):c.2014C>T (p.Gln672Ter) rs142947311 0.00002
NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter) rs876659250 0.00002
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) rs587782070 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.3285_3286insGTTAATG (p.Asn1096fs) rs1966508734 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) rs878855122 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.2053C>T (p.Gln685Ter) rs876659533 0.00002
NM_032043.3(BRIP1):c.633del (p.Gly212fs) rs779466229 0.00002
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter) rs587779813 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.1607+1G>T rs772926890 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs) rs1060501610 0.00001
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter) rs777849257 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3078-1G>A rs750663117 0.00001
NM_000051.4(ATM):c.3154-2A>G rs730881357 0.00001
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687 0.00001
NM_000051.4(ATM):c.332-1G>A rs747855862 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640 0.00001
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter) rs587781950 0.00001
NM_000051.4(ATM):c.4437-1G>C rs759520465 0.00001
NM_000051.4(ATM):c.4668T>G (p.Tyr1556Ter) rs766438805 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) rs764389018 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118 0.00001
NM_000051.4(ATM):c.6095+1G>A rs587781584 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter) rs1060501536 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.6807G>A (p.Gln2269=) rs587780638 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter) rs1131691162 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter) rs773516672 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) rs778269655 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) rs587778080 0.00001
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_000051.4(ATM):c.8584+2T>C rs730881326 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs) rs758814126 0.00001
NM_000051.4(ATM):c.8988-1G>C rs730881386 0.00001
NM_000051.4(ATM):c.902-1G>T rs1064793518 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) rs121434219 0.00001
NM_000051.4(ATM):c.943_944del (p.Leu315fs) rs768024233 0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter) rs80358464 0.00001
NM_000059.4(BRCA2):c.1970T>A (p.Leu657Ter) rs397507279 0.00001
NM_000059.4(BRCA2):c.2092del (p.Leu698fs) rs80359322 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.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.3820_3823del (p.Phe1273_Lys1274insTer) rs730881620 0.00001
NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter) rs80358631 0.00001
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter) rs80358648 0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter) rs80358695 0.00001
NM_000059.4(BRCA2):c.489_490insG (p.Leu164fs) rs120074205 0.00001
NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs) rs80359490 0.00001
NM_000059.4(BRCA2):c.5286T>G (p.Tyr1762Ter) rs80358754 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.6065C>G (p.Ser2022Ter) rs80358843 0.00001
NM_000059.4(BRCA2):c.6235del (p.Val2079fs) rs397507835 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.6998dup (p.Pro2334fs) rs754611265 0.00001
NM_000059.4(BRCA2):c.7063G>T (p.Glu2355Ter) rs200078639 0.00001
NM_000059.4(BRCA2):c.7115C>G (p.Ser2372Ter) rs80358943 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>A (p.Trp2626Ter) rs80359013 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.793+1G>A rs81002846 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 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.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 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_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 0.00001
NM_000465.4(BARD1):c.1172C>A (p.Ser391Ter) rs878853995 0.00001
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter) rs796666047 0.00001
NM_000465.4(BARD1):c.1205C>G (p.Ser402Ter) rs796666047 0.00001
NM_000465.4(BARD1):c.1338C>A (p.Tyr446Ter) rs761702998 0.00001
NM_000465.4(BARD1):c.1385G>A (p.Trp462Ter) rs1213894295 0.00001
NM_000465.4(BARD1):c.1512dup (p.Gly505fs) rs1553619249 0.00001
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter) rs587781707 0.00001
NM_000465.4(BARD1):c.1678-1G>T rs767208318 0.00001
NM_000465.4(BARD1):c.16C>T (p.Gln6Ter) rs876658234 0.00001
NM_000465.4(BARD1):c.1817_1818del (p.His606fs) rs587782897 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_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.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.840A>T (p.Arg280Ser) rs1567547687 0.00001
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp) rs750592289 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_002878.4(RAD51D):c.739-1G>A rs1555567202 0.00001
NM_003579.4(RAD54L):c.973G>A (p.Gly325Arg) rs121908690 0.00001
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) rs587780784 0.00001
NM_004360.5(CDH1):c.1137+1G>A rs876660771 0.00001
NM_004448.4(ERBB2):c.2686C>T (p.Arg896Cys) rs758222990 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter) rs780001540 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.1462-1G>A rs1060502698 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.232C>T (p.Gln78Ter) rs1555932341 0.00001
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter) rs1064793817 0.00001
NM_007194.4(CHEK2):c.319+1G>A rs765080766 0.00001
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter) rs756949505 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.577_578del (p.Leu193fs) rs775167943 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.622del (p.Asp208fs) rs773955899 0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650 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.212+3A>G rs80358083 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.3485del (p.Asp1162fs) rs80357509 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.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4243del (p.Glu1415fs) rs80357981 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.4603G>T (p.Glu1535Ter) rs80357366 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) rs80187739 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter) rs80357418 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 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.1258C>T (p.Gln420Ter) rs587782446 0.00001
NM_024675.4(PALB2):c.156del (p.Glu53fs) rs587776406 0.00001
NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs) rs786203346 0.00001
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter) rs180177103 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 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.2012T>G (p.Leu671Ter) rs755263466 0.00001
NM_024675.4(PALB2):c.2108T>G (p.Leu703Ter) rs752592662 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.2559C>T (p.Gly853=) rs180177115 0.00001
NM_024675.4(PALB2):c.2888del (p.Ser963fs) rs587776420 0.00001
NM_024675.4(PALB2):c.3067C>T (p.Gln1023Ter) rs1555459386 0.00001
NM_024675.4(PALB2):c.3113+5G>C rs876659463 0.00001
NM_024675.4(PALB2):c.3201+1G>T rs587776423 0.00001
NM_024675.4(PALB2):c.3350+5G>A rs587782566 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_024675.4(PALB2):c.395del (p.Val132fs) rs180177085 0.00001
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter) rs587782005 0.00001
NM_024675.4(PALB2):c.62T>G (p.Leu21Ter) rs769240800 0.00001
NM_024675.4(PALB2):c.682C>T (p.Gln228Ter) rs1327399690 0.00001
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter) rs180177091 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter) rs786203821 0.00001
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter) rs730881633 0.00001
NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter) rs1603342313 0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923 0.00001
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226 0.00001
NM_032043.3(BRIP1):c.1594dup (p.Met532fs) rs1339743866 0.00001
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter) rs575595017 0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs) rs587780236 0.00001
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574 0.00001
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs) rs1483527885 0.00001
NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter) rs752411477 0.00001
NM_032043.3(BRIP1):c.2525_2538del (p.Leu842fs) rs2061477722 0.00001
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs) rs752780954 0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410 0.00001
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter) rs747604569 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
GRCh37/hg19 2q37.3(chr2:239860877-241385960)
NC_000002.11:g.(?_215590360)_(215674445_?)del
NC_000002.11:g.(?_215590369)_(215617280_215632205)del
NC_000002.11:g.(?_215593394)_(215634042_?)del
NC_000002.11:g.(?_215593400)_(215610588_?)del
NC_000002.11:g.(?_215593400)_(215617289_?)del
NC_000002.11:g.(?_215593400)_(215634046_?)del
NC_000002.11:g.(?_215593400)_(215646243_?)del
NC_000002.11:g.(?_215593400)_(215657179_?)del
NC_000002.11:g.(?_215593400)_(215661851_?)del
NC_000002.11:g.(?_215609620)_(215674259_?)del
NC_000002.11:g.(?_215609781)_(215610588_?)del
NC_000002.11:g.(?_215609781)_(215634046_?)del
NC_000002.11:g.(?_215610976)_(215619002_?)del
NC_000002.11:g.(?_215617161)_(215617289_?)del
NC_000002.11:g.(?_215617161)_(215674293_?)del
NC_000002.11:g.(?_215633946)_(215674293_?)del
NC_000002.11:g.(?_215645264)_(215646253_?)del
NC_000002.11:g.(?_215645274)_(215646243_?)del
NC_000002.11:g.(?_215645274)_(215661851_?)del
NC_000002.11:g.(?_215645274)_(215674293_?)del
NC_000002.11:g.(?_215657011)_(215674293_?)del
NC_000002.11:g.(?_215661775)_(215661851_?)del
NC_000002.11:g.(?_215661775)_(215674293_?)del
NC_000002.11:g.215591300_215623516del
NC_000002.12:g.(?_214728666)_(214745864_?)del
NC_000002.12:g.(?_214728666)_(214797127_?)del
NC_000002.12:g.(?_214728666)_(214809579_?)del
NC_000002.12:g.(?_214728670)_(214781515_?)del
NC_000002.12:g.(?_214728676)_(214809569_?)del
NC_000002.12:g.(?_214745057)_(214767664_?)del
NC_000002.12:g.(?_214745057)_(214809569_?)del
NC_000002.12:g.(?_214745057)_(214809579_?)del
NC_000002.12:g.(?_214745712)_(214752565_?)del
NC_000002.12:g.(?_214745716)_(214752561_?)del
NC_000002.12:g.(?_214752437)_(214781519_?)del
NC_000002.12:g.(?_214752437)_(214809579_?)del
NC_000002.12:g.(?_214752441)_(214752561_?)del
NC_000002.12:g.(?_214767472)_(214767664_?)del
NC_000002.12:g.(?_214767472)_(214769322_?)del
NC_000002.12:g.(?_214767472)_(214809569_?)del
NC_000002.12:g.(?_214767476)_(214769318_?)del
NC_000002.12:g.(?_214780550)_(214809579_?)del
NC_000002.12:g.(?_214780554)_(214781515_?)del
NC_000002.12:g.(?_214797055)_(214809575_?)del
NC_000002.12:g.(?_214809402)_(214809569_?)del
NC_000002.12:g.(?_214809402)_(214809579_?)del
NC_000002.12:g.(?_214809406)_(214809575_?)del
NC_000008.11:g.52623770_52685461del
NC_000011.9:g.(108168110_108170440)_(108178712_108180886)del
NC_000011.9:g.(108225602_108235808)_(108239827_?)del
NC_000011.9:g.108105163_108155884del
NC_000011.9:g.108108886_108205398del
NC_000016.10:g.(23608013_23614003)_(23626398_23629203)del
NC_000016.10:g.(?_23603162)_(23603669_?)del
NC_000016.10:g.(?_23603162)_(23603670_23607863)del
NC_000016.10:g.(?_23603162)_(23608013_23614003)del
NC_000016.10:g.(?_23603162)_(23641357_?)del
NC_000016.10:g.(?_23603313)_(23603679_?)del
NC_000016.10:g.(?_23603313)_(23608022_?)del
NC_000016.10:g.(?_23603313)_(23626407_?)del
NC_000016.10:g.(?_23603313)_(23641157_?)del
NC_000016.10:g.(?_23603449)_(23603679_?)del
NC_000016.10:g.(?_23603449)_(23608022_?)del
NC_000016.10:g.(?_23603449)_(23614101_?)del
NC_000016.10:g.(?_23603449)_(23626407_?)del
NC_000016.10:g.(?_23603449)_(23641167_?)del
NC_000016.10:g.(?_23603453)_(23614097_?)del
NC_000016.10:g.(?_23603459)_(23608012_?)del
NC_000016.10:g.(?_23603459)_(23626397_?)del
NC_000016.10:g.(?_23621352)_(23626407_?)del
NC_000016.10:g.(?_23621352)_(23636344_?)del
NC_000016.10:g.(?_23621352)_(23641167_?)del
NC_000016.10:g.(?_23621362)_(23626397_?)del
NC_000016.10:g.(?_23623999)_(23624104_?)del
NC_000016.10:g.(?_23623999)_(23626407_?)del
NC_000016.10:g.(?_23624009)_(23624094_?)del
NC_000016.10:g.(?_23626226)_(23630479_?)del
NC_000016.10:g.(?_23626226)_(23636344_?)del
NC_000016.10:g.(?_23626236)_(23630469_?)del
NC_000016.10:g.(?_23629194)_(23630479_?)del
NC_000016.10:g.(?_23629194)_(23641157_?)del
NC_000016.10:g.(?_23629630)_(23630479_?)del
NC_000016.10:g.(?_23634852)_(23638139_?)del
NC_000016.10:g.(?_23634852)_(23641167_?)del
NC_000016.10:g.(?_23634856)_(23641163_?)del
NC_000016.10:g.(?_23637840)_(23638139_?)del
NC_000016.10:g.(?_23637840)_(23641167_?)del
NC_000016.10:g.23608013del rs2142274423
NC_000016.9:g.(23619334_23625324)_(23625413_23632682)del
NC_000016.9:g.(23634452_23635329)_(23635416_23637556)del
NC_000016.9:g.(23635416_23637556)_(23647656_23649170)del
NC_000016.9:g.(68771367_68772199)_(68772315_68835572)del
NC_000016.9:g.(?_23584033)_(23647150_?)del
NC_000016.9:g.(?_23614482)_(23619334_23625324)del
NC_000016.9:g.(?_23614482)_(23637719_23640524)del
NC_000016.9:g.(?_23614634)_(23625422_?)del
NC_000016.9:g.(?_23614634)_(23649460_?)del
NC_000016.9:g.(?_23619175)_(23619343_?)del
NC_000016.9:g.(?_23619175)_(23649460_?)del
NC_000016.9:g.(?_23619175)_(23652478_?)del
NC_000016.9:g.(?_23625315)_(23625422_?)del
NC_000016.9:g.(?_23625315)_(23634461_?)del
NC_000016.9:g.(?_23625315)_(23652478_?)del
NC_000016.9:g.(?_23632673)_(23635425_?)del
NC_000016.9:g.(?_23634280)_(23641800_?)del
NC_000016.9:g.(?_23635320)_(23652478_?)del
NC_000016.9:g.(?_23640505)_(23641810_?)del
NC_000016.9:g.(?_23640515)_(23647665_?)del
NC_000016.9:g.(?_23652421)_(23652478_?)del
NC_000016.9:g.23641376_23641377insAlu
NC_000017.10:g.(?_59760657)_(59761511_?)del
NC_000017.10:g.(?_59760657)_(59763536_?)del
NC_000017.10:g.(?_59760657)_(59770883_?)del
NC_000017.10:g.(?_59760657)_(59821962_?)del
NC_000017.10:g.(?_59760657)_(59861805_?)del
NC_000017.10:g.(?_59760657)_(59871100_?)del
NC_000017.10:g.(?_59760657)_(59934602_?)del
NC_000017.10:g.(?_59770781)_(59770883_?)del
NC_000017.10:g.(?_59770781)_(59938900_?)del
NC_000017.10:g.(?_59820364)_(59886128_?)del
NC_000017.10:g.(?_59853752)_(59858376_?)del
NC_000017.10:g.(?_59857612)_(59858376_?)del
NC_000017.10:g.(?_59858191)_(59858864_?)del
NC_000017.10:g.(?_59861621)_(59861795_?)del
NC_000017.10:g.(?_59861718)_(59940920_?)del
NC_000017.10:g.(?_59870948)_(59871100_?)del
NC_000017.10:g.(?_59876451)_(59886128_?)del
NC_000017.10:g.(?_59924452)_(59938900_?)del
NC_000017.10:g.(?_59926480)_(59926627_?)del
NC_000017.10:g.(?_59926480)_(59934602_?)del
NC_000017.10:g.(?_59937147)_(59937278_?)del
NC_000017.10:g.(?_59937147)_(59938900_?)del
NC_000017.11:g.(?_61683286)_(61693522_?)del
NC_000017.11:g.(?_61683286)_(61716073_?)del
NC_000017.11:g.(?_61683290)_(61684146_?)del
NC_000017.11:g.(?_61683296)_(61716073_?)del
NC_000017.11:g.(?_61715941)_(61716073_?)del
NC_000017.11:g.(?_61715941)_(61808767_?)del
NC_000017.11:g.(?_61743007)_(61808763_?)del
NC_000017.11:g.(?_61744422)_(61744601_?)del
NC_000017.11:g.(?_61776391)_(61808767_?)del
NC_000017.11:g.(?_61776395)_(61801480_?)del
NC_000017.11:g.(?_61776395)_(61861545_?)del
NC_000017.11:g.(?_61780255)_(61781011_?)del
NC_000017.11:g.(?_61799090)_(61801484_?)del
NC_000017.11:g.(?_61847091)_(61849266_?)del
NC_000017.11:g.(?_61847091)_(61861549_?)del
NC_000017.11:g.(?_61847101)_(61849256_?)del
NC_000017.11:g.(?_61857048)_(61861539_?)del
NC_000017.11:g.(?_61857048)_(61861549_?)del
NC_000017.11:g.(?_61857052)_(61861545_?)del
NC_000017.11:g.(?_61859786)_(61861549_?)del
NC_000017.11:g.43045086_43057213del
NC_000017.11:g.43045676_43045803del rs2152474705
NC_000017.11:g.43110502_43125418del
NC_000022.10:g.(?_29081001)_29140000del
NC_000022.10:g.(?_29082731)_(29138822_?)del
NC_000022.10:g.(?_29083875)_(30090801_?)del
NC_000022.10:g.(?_29083885)_(29090115_?)del
NC_000022.10:g.(?_29083885)_(29095935_?)del
NC_000022.10:g.(?_29083885)_(29099564_?)del
NC_000022.10:g.(?_29083885)_(29108015_?)del
NC_000022.10:g.(?_29083885)_(29130709_?)del
NC_000022.10:g.(?_29083885)_(29621477_?)del
NC_000022.10:g.(?_29090010)_(29115483_?)del
NC_000022.10:g.(?_29090010)_(29130713_?)del
NC_000022.10:g.(?_29091105)_(29091240_?)del
NC_000022.10:g.(?_29092879)_(29095935_?)del
NC_000022.10:g.(?_29095820)_(29130715_?)del
NC_000022.10:g.(?_29099483)_(29108015_?)del
NC_000022.10:g.(?_29105984)_(29115483_?)del
NC_000022.10:g.(?_29105984)_(30337586_?)del
NC_000022.10:g.(?_29105988)_(29115479_?)del
NC_000022.10:g.(?_29115373)_(29121365_?)del
NC_000022.10:g.(?_29115377)_(29115479_?)del
NC_000022.10:g.(?_29121102)_(29125325_?)del
NC_000022.10:g.(?_29130385)_(29130715_?)del
NC_000022.10:g.(?_29130452)_(29160933_?)del
NC_000022.11:g.(?_28687743)_(28725367_?)del
NC_000022.11:g.(?_28687743)_(28741834_?)del
NC_000022.11:g.(?_28687887)_(28696997_?)del
NC_000022.11:g.(?_28687887)_(28699947_?)del
NC_000022.11:g.(?_28687887)_(28703576_?)del
NC_000022.11:g.(?_28687887)_(28710069_?)del
NC_000022.11:g.(?_28687887)_(28719495_?)del
NC_000022.11:g.(?_28687887)_(28725377_?)del
NC_000022.11:g.(?_28687887)_(28734731_?)del
NC_000022.11:g.(?_28687891)_(28696993_?)del
NC_000022.11:g.(?_28687891)_(28703572_?)del
NC_000022.11:g.(?_28687891)_(28734727_?)del
NC_000022.11:g.(?_28687897)_(28696997_?)del
NC_000022.11:g.(?_28687897)_(28725377_?)del
NC_000022.11:g.(?_28694022)_(28694127_?)del
NC_000022.11:g.(?_28694022)_(28699947_?)del
NC_000022.11:g.(?_28694022)_(28734731_?)del
NC_000022.11:g.(?_28694026)_(28734727_?)del
NC_000022.11:g.(?_28695117)_(28696997_?)del
NC_000022.11:g.(?_28695121)_(28703572_?)del
NC_000022.11:g.(?_28695700)_(28703576_?)del
NC_000022.11:g.(?_28699832)_(28699943_?)del
NC_000022.11:g.(?_28703495)_(28703576_?)del
NC_000022.11:g.(?_28703505)_(28703566_?)del
NC_000022.11:g.(?_28709996)_(28712027_?)del
NC_000022.11:g.(?_28709996)_(28734731_?)del
NC_000022.11:g.(?_28710000)_(28712023_?)del
NC_000022.11:g.(?_28710006)_(28719485_?)del
NC_000022.11:g.(?_28711899)_(28712027_?)del
NC_000022.11:g.(?_28719385)_(28734725_?)del
NC_000022.11:g.(?_28719385)_(28734731_?)del
NC_000022.11:g.(?_28724967)_(28725377_?)del
NC_000022.11:g.(?_28724967)_(28734725_?)del
NC_000022.11:g.(?_28724967)_(28734731_?)del
NC_000022.11:g.(?_28724977)_(28725367_?)del
NC_000022.11:g.(?_28725237)_(28725373_?)del
NC_000022.11:g.(?_28734393)_(28734725_?)del
NC_000022.11:g.(?_28734393)_(28734731_?)del
NC_000022.11:g.28710060del
NG_008150.2:g.(27473_34849)_(43363_46929)dup
NG_008150.2:g.14927_51132dup
NM_000038.6(APC):c.-2_135+1824del
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1045_1052del (p.Met349fs) rs1565375817
NM_000051.4(ATM):c.1053dup (p.Ile352fs) rs587781984
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs) rs1555068609
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1110del (p.Ser369_Tyr370insTer) rs1591517456
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs) rs1591517571
NM_000051.4(ATM):c.1126_1127del (p.Glu376fs) rs1064795624
NM_000051.4(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)
NM_000051.4(ATM):c.1168G>T (p.Glu390Ter) rs876660106
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer) rs1060501609
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1333del (p.Gln445fs) rs1060501701
NM_000051.4(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.4(ATM):c.140C>G (p.Ser47Ter) rs774185390
NM_000051.4(ATM):c.1450_1451del (p.Trp484fs)
NM_000051.4(ATM):c.1486_1487insCA (p.Ser496fs)
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter) rs1281817400
NM_000051.4(ATM):c.1503_1521del (p.Gln501fs)
NM_000051.4(ATM):c.1514_1515del (p.Phe505fs) rs1060501529
NM_000051.4(ATM):c.1520T>A (p.Leu507Ter) rs2135325561
NM_000051.4(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1653del (p.Pro552fs) rs2080167483
NM_000051.4(ATM):c.1660del (p.Thr554fs) rs876658572
NM_000051.4(ATM):c.1736G>A (p.Trp579Ter)
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.4(ATM):c.1772dup (p.Asn591fs) rs1591528248
NM_000051.4(ATM):c.1880del (p.Phe627fs)
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.1920del (p.Glu641fs)
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1935del (p.Ser646fs)
NM_000051.4(ATM):c.193C>T (p.Gln65Ter) rs775248597
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.2066C>G (p.Ser689Ter)
NM_000051.4(ATM):c.2091del (p.Leu697fs)
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2113del (p.Tyr705fs) rs863224822
NM_000051.4(ATM):c.2155_2174del (p.Ser719fs)
NM_000051.4(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_000051.4(ATM):c.217_218del (p.Glu73fs) rs762089971
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter) rs2229019
NM_000051.4(ATM):c.2250+2T>C rs1555075037
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2301_2304del (p.Asn768fs) rs1565397179
NM_000051.4(ATM):c.2341C>T (p.Gln781Ter) rs1555075781
NM_000051.4(ATM):c.2376+1G>A rs730881347
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter) rs1442299125
NM_000051.4(ATM):c.2466+1G>A rs914092098
NM_000051.4(ATM):c.2466+1del rs786202783
NM_000051.4(ATM):c.2497G>T (p.Gly833Ter) rs876658804
NM_000051.4(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.4(ATM):c.2574dup (p.Asn859Ter) rs587778068
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2663_2664delinsT (p.Glu888fs)
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter) rs876660780
NM_000051.4(ATM):c.2677C>T (p.Gln893Ter) rs1555083131
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer) rs786202695
NM_000051.4(ATM):c.2754del (p.Phe918fs) rs786202608
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.289del (p.Ile97fs) rs878853497
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+1G>C rs587781558
NM_000051.4(ATM):c.2966dup (p.Ile990fs) rs1555085060
NM_000051.4(ATM):c.2989del (p.His996_Val997insTer)
NM_000051.4(ATM):c.299T>A (p.Leu100Ter) rs761936549
NM_000051.4(ATM):c.3046G>T (p.Gly1016Ter) rs2081575204
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3077+1G>T rs192810283
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter) rs587782103
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter) rs780240314
NM_000051.4(ATM):c.3154-1G>A rs1555085973
NM_000051.4(ATM):c.320dup (p.Cys107fs) rs2078893430
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3285-2A>G rs1591631876
NM_000051.4(ATM):c.3289_3299delinsGTGTCCA (p.Phe1097fs)
NM_000051.4(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.4(ATM):c.331+1G>A rs1555055356
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter) rs1060501711
NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter) rs2135644009
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.4(ATM):c.3356_3357del (p.Ala1119fs)
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3403-1_3577-680del
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer) rs1555091238
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter) rs1591636613
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter) rs876659067
NM_000051.4(ATM):c.3520_3523del (p.Phe1174fs) rs1394502687
NM_000051.4(ATM):c.3526_3527del (p.Leu1176fs)
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.3699_3703del (p.Pro1235fs) rs2082305146
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3747-1G>T
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs) rs786201886
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.382del (p.Thr127_Val128insTer) rs2135122447
NM_000051.4(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.4(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.4(ATM):c.3928C>T (p.Gln1310Ter)
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.4019T>A (p.Leu1340Ter) rs2082559544
NM_000051.4(ATM):c.4106C>G (p.Ser1369Ter)
NM_000051.4(ATM):c.4110-1G>A rs1060501692
NM_000051.4(ATM):c.4111del rs797045114
NM_000051.4(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4236del (p.Asp1413fs) rs1565455297
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.4(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.4(ATM):c.4383G>A (p.Trp1461Ter) rs1294578913
NM_000051.4(ATM):c.4389del (p.Phe1463fs)
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer) rs771887195
NM_000051.4(ATM):c.4421_4432delinsCAACT (p.His1474fs)
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter) rs1368412801
NM_000051.4(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter) rs2082872908
NM_000051.4(ATM):c.4622T>A (p.Leu1541Ter)
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs) rs876659535
NM_000051.4(ATM):c.4680del (p.Lys1560fs)
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter) rs746499337
NM_000051.4(ATM):c.4734_4736delinsCC (p.Gln1578fs)
NM_000051.4(ATM):c.475del (p.Ile159fs) rs1555059464
NM_000051.4(ATM):c.4774G>T (p.Glu1592Ter) rs876658587
NM_000051.4(ATM):c.4776+1G>T rs771117943
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.4777G>T (p.Glu1593Ter)
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.480_484del (p.Gln161fs)
NM_000051.4(ATM):c.4842_4843insCT (p.Lys1615fs) rs753011366
NM_000051.4(ATM):c.484C>T (p.Gln162Ter) rs1565357383
NM_000051.4(ATM):c.487C>T (p.Gln163Ter) rs1591475608
NM_000051.4(ATM):c.4957C>T (p.Gln1653Ter) rs1565469955
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter) rs1555104609
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.5205del (p.Cys1736fs)
NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg) rs1060501571
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.5312_5313delinsC (p.Arg1771fs)
NM_000051.4(ATM):c.5319+2T>C rs1555105842
NM_000051.4(ATM):c.5320-5_5320-2del rs730881310
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5335del (p.Arg1779fs)
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs) rs2135927504
NM_000051.4(ATM):c.5396del (p.Ser1799fs) rs587782812
NM_000051.4(ATM):c.5469del (p.Leu1824fs)
NM_000051.4(ATM):c.5497-1G>A rs876660245
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5508_5509delinsG (p.Asp1836fs)
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.5610del (p.Phe1870fs)
NM_000051.4(ATM):c.5630_5639del (p.His1876_Phe1877insTer)
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.5672C>A (p.Ser1891Ter)
NM_000051.4(ATM):c.5674+1G>T rs1565482453
NM_000051.4(ATM):c.5699_5700del (p.Cys1900fs)
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5719_5722del (p.Arg1907fs) rs1591732123
NM_000051.4(ATM):c.5763-2A>T rs876659489
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter) rs876658831
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs) rs587779851
NM_000051.4(ATM):c.5809_5813del (p.Asn1937fs)
NM_000051.4(ATM):c.5839del (p.Ser1947fs) rs2136015541
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs) rs587781727
NM_000051.4(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter) rs1555111775
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter) rs786203404
NM_000051.4(ATM):c.5977dup (p.Ser1993fs) rs1591758642
NM_000051.4(ATM):c.597T>A (p.Cys199Ter) rs1565369633
NM_000051.4(ATM):c.5991del (p.Gly1998fs) rs1591758884
NM_000051.4(ATM):c.6015dup (p.Glu2007fs) rs1438576066
NM_000051.4(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.4(ATM):c.6021_6022dup (p.Ile2008fs)
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6049dup (p.Ser2017fs) rs797045030
NM_000051.4(ATM):c.6082del (p.Gln2028fs) rs1565499093
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.610G>T (p.Gly204Ter) rs147915571
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.4(ATM):c.6142del (p.Thr2048fs)
NM_000051.4(ATM):c.6178_6182del (p.Arg2060fs)
NM_000051.4(ATM):c.6194_6197dup (p.Gln2066fs)
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6199-1G>T rs1591788932
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6215del (p.Gly2072fs) rs2084775383
NM_000051.4(ATM):c.6228del (p.Leu2077fs) rs786203008
NM_000051.4(ATM):c.6273del (p.Trp2091fs) rs1565503137
NM_000051.4(ATM):c.6280del (p.Glu2094fs) rs1565503198
NM_000051.4(ATM):c.6312G>A (p.Trp2104Ter) rs1555114766
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter) rs587782114
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter) rs2085078278
NM_000051.4(ATM):c.6372C>G (p.Tyr2124Ter)
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter) rs876658163
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.640dup (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter) rs1339238483
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs) rs863225466
NM_000051.4(ATM):c.6527del (p.Leu2176fs) rs2136241341
NM_000051.4(ATM):c.6575C>G (p.Ser2192Ter) rs2136306738
NM_000051.4(ATM):c.6577_6580dup (p.Thr2194fs)
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter) rs1555119041
NM_000051.4(ATM):c.6633dup (p.Leu2212fs)
NM_000051.4(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.4(ATM):c.6671dup (p.Met2224fs)
NM_000051.4(ATM):c.6695del (p.Glu2232fs)
NM_000051.4(ATM):c.6730dup (p.Arg2244fs) rs1060501543
NM_000051.4(ATM):c.6829del (p.Gln2277fs) rs2136332132
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter) rs1555119834
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter) rs2136334561
NM_000051.4(ATM):c.6889dup (p.Gln2297fs)
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.4(ATM):c.6908dup (p.Glu2304fs) rs773570504
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs) rs878853535
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs) rs786203421
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs) rs864622416
NM_000051.4(ATM):c.7031G>A (p.Trp2344Ter)
NM_000051.4(ATM):c.7089+1_7089+38del rs2085827807
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.4(ATM):c.7159_7160insAGCC (p.Phe2387Ter) rs1591150887
NM_000051.4(ATM):c.7166C>A (p.Ser2389Ter) rs1018140779
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter) rs1555122149
NM_000051.4(ATM):c.7307+1G>A rs2086003529
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter) rs763470424
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7349T>G (p.Leu2450Ter)
NM_000051.4(ATM):c.7372del (p.Asp2458fs)
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.4(ATM):c.7424T>G (p.Leu2475Ter) rs1224883896
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.7519_7520del rs587781905
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.7629_7629+4del rs876660041
NM_000051.4(ATM):c.7636del (p.Ser2546fs)
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer) rs1555124503
NM_000051.4(ATM):c.7669_7670del (p.Leu2557fs) rs1565533778
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs) rs1555124506
NM_000051.4(ATM):c.7694dup (p.Asn2565fs) rs1591171790
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7751_7754del (p.Thr2584fs) rs2086308364
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter) rs1591172641
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del) rs876660743
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.4(ATM):c.7998dup (p.Met2667fs) rs587779869
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs) rs587780640
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter) rs1555127102
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs) rs1591191412
NM_000051.4(ATM):c.8054_8093dup (p.Leu2698delinsPheIleTer)
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.4(ATM):c.8101dup (p.Ile2701fs) rs2086682689
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8135_8139del (p.Arg2712fs) rs2136663735
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter) rs1060501695
NM_000051.4(ATM):c.8152-1G>A rs1398616877
NM_000051.4(ATM):c.8152-1G>T rs1398616877
NM_000051.4(ATM):c.8161_8163delinsAG (p.Asp2721fs)
NM_000051.4(ATM):c.8182dup (p.Met2728fs) rs2136693800
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.4(ATM):c.8240dup (p.Arg2748fs) rs1591199097
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
NM_000051.4(ATM):c.8274del (p.Leu2760fs)
NM_000051.4(ATM):c.8281_8284del (p.Gln2762fs) rs775899653
NM_000051.4(ATM):c.8283_8284del (p.Gln2762fs) rs775899653
NM_000051.4(ATM):c.8288del (p.Arg2763fs) rs886039630
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs) rs1064793046
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8397del (p.Gln2800fs) rs587781837
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter) rs1555137973
NM_000051.4(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs) rs767533596
NM_000051.4(ATM):c.8440del (p.Glu2814fs) rs752526400
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter) rs587781363
NM_000051.4(ATM):c.8473_8479del (p.Gln2825fs) rs2137028850
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter) rs1555138291
NM_000051.4(ATM):c.8551_8554dup (p.Tyr2852fs) rs2088299549
NM_000051.4(ATM):c.8555dup (p.Tyr2852Ter)
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del) rs786203976
NM_000051.4(ATM):c.8585-1G>C
NM_000051.4(ATM):c.8585-2A>C rs1060501700
NM_000051.4(ATM):c.8652dup (p.Leu2885fs) rs2088559453
NM_000051.4(ATM):c.8655dup (p.Val2886fs) rs753961188
NM_000051.4(ATM):c.8671+2_8671+3insTA rs2137087134
NM_000051.4(ATM):c.8683G>T (p.Glu2895Ter)
NM_000051.4(ATM):c.8720del (p.Pro2907fs)
NM_000051.4(ATM):c.8766dup (p.Val2923fs) rs876660813
NM_000051.4(ATM):c.8787-1G>C rs1591313869
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter) rs1555143494
NM_000051.4(ATM):c.879del (p.Gly294fs)
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs) rs786203030
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs) rs786202547
NM_000051.4(ATM):c.8851-1G>T rs1057516537
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer) rs864622669
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter) rs1131691149
NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter) rs1060501650
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter) rs1565607653
NM_000051.4(ATM):c.8923G>T (p.Glu2975Ter) rs2091208125
NM_000051.4(ATM):c.8934_8935del (p.Glu2979fs) rs2137881586
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter) rs147695170
NM_000051.4(ATM):c.8968G>T (p.Glu2990Ter)
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.901+1G>T rs748840480
NM_000051.4(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.4(ATM):c.929del (p.Ser310fs) rs1591510597
NM_000051.4(ATM):c.945dup (p.Tyr316fs) rs2135265770
NM_000051.4:c.(2838_2839)_(5674_5675)del
NM_000051.4:c.919_920insAlu
NM_000057.4(BLM):c.3254dup (p.Arg1086fs)
NM_000059.3(BRCA2):c.1114_1117delinsCATT (p.Asn372_Gln373delinsHisTer) rs879255323
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.3683delinsGG (p.Asn1228fs) rs1555283361
NM_000059.3(BRCA2):c.7508_7521delinsG (p.Val2503fs) rs879255331
NM_000059.3(BRCA2):c.8633_8755del
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs) rs80359760
NM_000059.3:c.3847_3848delTG rs80359405
NM_000059.4(BRCA2):c.-5_11del (p.Met1fs) rs1555280073
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.4(BRCA2):c.1013del (p.Ala338fs) rs2137466855
NM_000059.4(BRCA2):c.10248del (p.Lys3416fs) rs776212316
NM_000059.4(BRCA2):c.1029del (p.Lys343fs) rs80359260
NM_000059.4(BRCA2):c.1053del (p.Lys351fs) rs886040342
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs) rs80359261
NM_000059.4(BRCA2):c.1057del (p.Ser353fs) rs879255322
NM_000059.4(BRCA2):c.1059del (p.Phe354fs) rs1555281715
NM_000059.4(BRCA2):c.1103C>A (p.Ser368Ter) rs80358407
NM_000059.4(BRCA2):c.1138del (p.Ser380fs) rs80359264
NM_000059.4(BRCA2):c.1147del (p.Ile383fs) rs80359265
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.1190_1191insTTAG (p.Gln397delinsHisTer) rs80359266
NM_000059.4(BRCA2):c.1190_1197del (p.Gln397fs) rs886037797
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.1282del (p.Leu428fs) rs2137469532
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.1364C>G (p.Ser455Ter) rs2072410817
NM_000059.4(BRCA2):c.1376T>G (p.Leu459Ter) rs587781799
NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs) rs80359283
NM_000059.4(BRCA2):c.1389del (p.Val464fs) rs397507584
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.4(BRCA2):c.1405_1406del (p.Arg468_Asp469insTer) rs397507586
NM_000059.4(BRCA2):c.1408dup (p.Glu470fs) rs80359284
NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter) rs80358428
NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter) rs80358429
NM_000059.4(BRCA2):c.1423G>T (p.Glu475Ter) rs397507587
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter) rs80358434
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1496_1497del (p.Gln499fs) rs80359285
NM_000059.4(BRCA2):c.1507A>T (p.Lys503Ter) rs2137472200
NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter) rs80358438
NM_000059.4(BRCA2):c.1560_1561del (p.Ser521fs) rs886040374
NM_000059.4(BRCA2):c.1561del (p.Ser521fs) rs886040374
NM_000059.4(BRCA2):c.161del (p.Asn54fs) rs878853297
NM_000059.4(BRCA2):c.1654del (p.Ser552fs) rs80359297
NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter) rs80358452
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter) rs80358456
NM_000059.4(BRCA2):c.1705_1706del (p.Gln569fs) rs886040383
NM_000059.4(BRCA2):c.1733del (p.Gly578fs) rs879255326
NM_000059.4(BRCA2):c.1748T>A (p.Leu583Ter) rs397507604
NM_000059.4(BRCA2):c.1754del (p.Lys585fs) rs80359301
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
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.1805del (p.Gly602fs) rs397507608
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer) rs587779358
NM_000059.4(BRCA2):c.1821dup (p.Asp608fs) rs879255327
NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter) rs80358474
NM_000059.4(BRCA2):c.1842dup (p.Asn615Ter) rs80359312
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs) rs80359314
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.1907C>G (p.Ser636Ter) rs431825288
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.1910-1G>A rs1566225769
NM_000059.4(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.4(BRCA2):c.1945C>T (p.Gln649Ter) rs398122735
NM_000059.4(BRCA2):c.2034_2038del (p.Asn679fs) rs879255440
NM_000059.4(BRCA2):c.204del (p.Lys68fs) rs80359320
NM_000059.4(BRCA2):c.2059_2063del (p.Leu686_Asp687insTer) rs587782780
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter) rs878853559
NM_000059.4(BRCA2):c.2095_2096del (p.Gln699fs) rs886040403
NM_000059.4(BRCA2):c.2103_2106del (p.Phe701fs) rs80359324
NM_000059.4(BRCA2):c.2129C>G (p.Ser710Ter) rs886040405
NM_000059.4(BRCA2):c.2133C>A (p.Cys711Ter) rs535547513
NM_000059.4(BRCA2):c.2150del (p.Cys717fs) rs397507618
NM_000059.4(BRCA2):c.2175dup (p.Val726fs) rs276174819
NM_000059.4(BRCA2):c.2212dup (p.Cys738fs) rs80359325
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter) rs80358494
NM_000059.4(BRCA2):c.2231C>G (p.Ser744Ter) rs397507282
NM_000059.4(BRCA2):c.2251dup (p.Thr751fs) rs886040416
NM_000059.4(BRCA2):c.2266C>T (p.Gln756Ter) rs1057518637
NM_000059.4(BRCA2):c.2287del (p.His763fs) rs80359327
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs) rs80359328
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter) rs587781471
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.2380dup (p.Met794fs) rs730881602
NM_000059.4(BRCA2):c.2402_2420del (p.Asn801fs) rs886040923
NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter) rs80358504
NM_000059.4(BRCA2):c.2442del (p.Met815fs) rs397507627
NM_000059.4(BRCA2):c.246del (p.Glu83fs) rs397507630
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.2480dup (p.Asn827fs) rs397507286
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.2517del (p.Lys838_Tyr839insTer)
NM_000059.4(BRCA2):c.2537C>G (p.Ser846Ter) rs80358518
NM_000059.4(BRCA2):c.2551_2555del (p.Phe851fs) rs2137487619
NM_000059.4(BRCA2):c.2564_2565del (p.Thr855fs) rs80359334
NM_000059.4(BRCA2):c.2588del (p.Asn863fs) rs80359335
NM_000059.4(BRCA2):c.2588dup (p.Asn863fs) rs80359335
NM_000059.4(BRCA2):c.2595del (p.Glu866fs) rs483353111
NM_000059.4(BRCA2):c.2603del (p.Thr868fs) rs276174824
NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter) rs80358523
NM_000059.4(BRCA2):c.2618dup (p.Thr874fs) rs398122749
NM_000059.4(BRCA2):c.2641G>T (p.Glu881Ter) rs876658648
NM_000059.4(BRCA2):c.2653_2656del (p.Asp885fs) rs80359340
NM_000059.4(BRCA2):c.26del (p.Pro9fs) rs80359343
NM_000059.4(BRCA2):c.2701del (p.Ala902fs) rs397507637
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.2754del (p.Asn918fs) rs1555282830
NM_000059.4(BRCA2):c.2798_2799del (p.Thr933fs) rs80359348
NM_000059.4(BRCA2):c.2808del (p.Lys936fs) rs398122753
NM_000059.4(BRCA2):c.2818C>T (p.Gln940Ter) rs80358532
NM_000059.4(BRCA2):c.2828_2831del (p.Ile943fs) rs397507643
NM_000059.4(BRCA2):c.2833_2834insTT (p.Lys945fs) rs80359355
NM_000059.4(BRCA2):c.2836del (p.Asp946fs) rs80359358
NM_000059.4(BRCA2):c.2845del (p.Tyr949fs) rs397507644
NM_000059.4(BRCA2):c.2899_2900del (p.Leu967fs) rs80359361
NM_000059.4(BRCA2):c.289G>T (p.Glu97Ter) rs397507646
NM_000059.4(BRCA2):c.2950G>T (p.Glu984Ter) rs397507648
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs) rs80359365
NM_000059.4(BRCA2):c.2971_2983del (p.Asn991fs) rs886040456
NM_000059.4(BRCA2):c.2978G>A (p.Trp993Ter) rs80358543
NM_000059.4(BRCA2):c.2979G>A (p.Trp993Ter) rs80358544
NM_000059.4(BRCA2):c.2990T>G (p.Leu997Ter) rs397507649
NM_000059.4(BRCA2):c.3001del (p.Ser1001fs) rs886037801
NM_000059.4(BRCA2):c.3014_3015dup (p.Gly1006fs) rs397507650
NM_000059.4(BRCA2):c.3066dup (p.Asn1023Ter) rs886040458
NM_000059.4(BRCA2):c.3067_3071del (p.His1022_Asn1023insTer) rs80359369
NM_000059.4(BRCA2):c.3074del (p.Lys1025fs) rs2137492902
NM_000059.4(BRCA2):c.3075_3076delinsTT (p.Lys1025_Lys1026delinsAsnTer) rs587779362
NM_000059.4(BRCA2):c.3106G>T (p.Glu1036Ter) rs1060502449
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.4(BRCA2):c.3119del (p.Thr1040fs) rs2137493409
NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter) rs80358561
NM_000059.4(BRCA2):c.3157_3163del (p.Leu1053fs) rs1593898717
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.3165_3168del (p.Asn1055fs) rs1566227892
NM_000059.4(BRCA2):c.3166C>T (p.Gln1056Ter) rs79728106
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.3189_3192del (p.Ser1064fs) rs80359374
NM_000059.4(BRCA2):c.3195_3198del (p.Asn1066fs) rs80359375
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs) rs80359377
NM_000059.4(BRCA2):c.3215dup (p.Leu1072fs) rs2072475243
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter) rs80358573
NM_000059.4(BRCA2):c.3280A>T (p.Lys1094Ter) rs690016539
NM_000059.4(BRCA2):c.3291dup (p.Asn1098Ter) rs690016540
NM_000059.4(BRCA2):c.3293del (p.Asn1098fs) rs690016541
NM_000059.4(BRCA2):c.3308del (p.Asn1102_Leu1103insTer) rs1555283160
NM_000059.4(BRCA2):c.3322A>T (p.Lys1108Ter) rs1555283169
NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter) rs80358579
NM_000059.4(BRCA2):c.3451_3452del (p.Ile1151fs) rs886040475
NM_000059.4(BRCA2):c.3453del (p.Ile1151_Leu1152insTer) rs397507670
NM_000059.4(BRCA2):c.3454_3455del (p.Leu1152fs) rs1555283251
NM_000059.4(BRCA2):c.3455T>A (p.Leu1152Ter) rs80358593
NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter) rs80358593
NM_000059.4(BRCA2):c.3462del (p.Thr1155fs) rs1555283256
NM_000059.4(BRCA2):c.3481_3491del (p.Asp1161fs) rs1555283262
NM_000059.4(BRCA2):c.3500_3501del (p.Ile1167fs) rs80359387
NM_000059.4(BRCA2):c.3530_3533del (p.Asp1177fs) rs886040481
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) rs80359391
NM_000059.4(BRCA2):c.3641_3642insA (p.Phe1216fs) rs2137498577
NM_000059.4(BRCA2):c.3641del (p.Val1214fs) rs690016542
NM_000059.4(BRCA2):c.3641dup (p.Phe1216fs) rs397507678
NM_000059.4(BRCA2):c.3689del (p.Ser1230fs) rs80359398
NM_000059.4(BRCA2):c.36del (p.Phe12fs) rs80359393
NM_000059.4(BRCA2):c.3708dup (p.Ala1237fs) rs34575057
NM_000059.4(BRCA2):c.3716_3717del (p.Lys1239fs) rs80359401
NM_000059.4(BRCA2):c.3717del (p.Lys1239fs) rs80359401
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs) rs886040494
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs) rs397507683
NM_000059.4(BRCA2):c.3795T>A (p.Cys1265Ter)
NM_000059.4(BRCA2):c.3812C>A (p.Ser1271Ter) rs80358623
NM_000059.4(BRCA2):c.3812C>G (p.Ser1271Ter) rs80358623
NM_000059.4(BRCA2):c.3830del (p.Asn1277fs) rs397507689
NM_000059.4(BRCA2):c.3834_3835del (p.His1278fs) rs886037803
NM_000059.4(BRCA2):c.3837del (p.Asn1279fs) rs80359404
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.3873del (p.Gln1291fs) rs398122772
NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter) rs879255309
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.4(BRCA2):c.3998_4002del (p.Asn1333fs) rs2137501910
NM_000059.4(BRCA2):c.3del (p.Met1fs) rs80359418
NM_000059.4(BRCA2):c.4030_4035delinsC (p.Asn1344fs) rs886040509
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs) rs80359421
NM_000059.4(BRCA2):c.4041_4042del (p.Cys1348fs) rs886037800
NM_000059.4(BRCA2):c.4042del (p.Cys1348fs) rs886037800
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs) rs397507322
NM_000059.4(BRCA2):c.407del (p.Asn136fs) rs80359425
NM_000059.4(BRCA2):c.4095T>A (p.Cys1365Ter) rs80358658
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter) rs80358659
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.4133_4136del (p.Thr1378fs) rs80359430
NM_000059.4(BRCA2):c.4148_4149del (p.Asp1383fs) rs886037799
NM_000059.4(BRCA2):c.4151del (p.Leu1384fs) rs397507710
NM_000059.4(BRCA2):c.4163_4164delinsA (p.Thr1388fs) rs276174843
NM_000059.4(BRCA2):c.4211C>G (p.Ser1404Ter) rs41293489
NM_000059.4(BRCA2):c.4211del (p.Thr1403_Ser1404insTer) rs398122777
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.4223del (p.Gln1408fs) rs397507712
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000059.4(BRCA2):c.426-2A>G rs398122779
NM_000059.4(BRCA2):c.4277del (p.Thr1426fs) rs730881608
NM_000059.4(BRCA2):c.4284del (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4285C>T (p.Gln1429Ter) rs80358665
NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter) rs80358670
NM_000059.4(BRCA2):c.4366G>T (p.Glu1456Ter) rs876659847
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs) rs80359444
NM_000059.4(BRCA2):c.439C>T (p.Gln147Ter) rs397507717
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.4449del (p.Asp1484fs) rs80359448
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs) rs397507720
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.4515_4525del (p.Phe1506fs) rs863224827
NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter) rs80358683
NM_000059.4(BRCA2):c.4544del (p.Lys1515fs) rs397507725
NM_000059.4(BRCA2):c.4548_4549del (p.Lys1517fs) rs1064793413
NM_000059.4(BRCA2):c.4551_4554del (p.Lys1517fs) rs80359457
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs) rs80359458
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs) rs1057517565
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.4593dup (p.Val1532fs) rs397507731
NM_000059.4(BRCA2):c.4615_4616del (p.Leu1539fs) rs869320783
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer) rs80359459
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.4694del (p.Lys1565fs) rs1593903166
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs) rs397507739
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.4769del (p.Lys1590fs) rs879255328
NM_000059.4(BRCA2):c.4790del (p.Ser1597fs) rs2137510249
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs) rs2137510225
NM_000059.4(BRCA2):c.4808dup (p.Asn1603fs) rs80359466
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.4889C>A (p.Ser1630Ter) rs80358711
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs) rs786203494
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs) rs80359473
NM_000059.4(BRCA2):c.4947_4948del (p.Pro1651fs) rs80359474
NM_000059.4(BRCA2):c.4962T>A (p.Cys1654Ter) rs1057518638
NM_000059.4(BRCA2):c.4964dup (p.Tyr1655Ter) rs398122789
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter) rs80358721
NM_000059.4(BRCA2):c.4985C>G (p.Ser1662Ter) rs886040559
NM_000059.4(BRCA2):c.4987_4990del (p.Val1663fs) rs397507753
NM_000059.4(BRCA2):c.5006T>G (p.Leu1669Ter) rs1555284032
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs) rs80359477
NM_000059.4(BRCA2):c.5042_5043del (p.Val1681fs) rs80359478
NM_000059.4(BRCA2):c.5047C>T (p.Gln1683Ter) rs1555284044
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter) rs397507758
NM_000059.4(BRCA2):c.5116_5119del (p.Asn1706fs) rs276174853
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer) rs80359484
NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs) rs276174854
NM_000059.4(BRCA2):c.5154_5158del (p.Asn1719fs) rs886040570
NM_000059.4(BRCA2):c.5158dup (p.Ser1720fs) rs80359489
NM_000059.4(BRCA2):c.5164_5168dup (p.Ile1724fs) rs397507765
NM_000059.4(BRCA2):c.517-1G>A rs81002849
NM_000059.4(BRCA2):c.517-2A>G rs81002858
NM_000059.4(BRCA2):c.517-2_631+1del rs2137451892
NM_000059.4(BRCA2):c.518del (p.Gly173Valfs) rs80359492
NM_000059.4(BRCA2):c.5195del (p.Leu1732fs) rs587779363
NM_000059.4(BRCA2):c.51_52del (p.Arg18fs) rs80359483
NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs) rs1555284103
NM_000059.4(BRCA2):c.5206C>T (p.Gln1736Ter) rs886037802
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_000059.4(BRCA2):c.5216dup (p.Tyr1739Ter) rs886040578
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer) rs80359496
NM_000059.4(BRCA2):c.5222_5225del (p.Ser1741fs) rs80359498
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5242del (p.Ser1748fs) rs2137515525
NM_000059.4(BRCA2):c.5270_5286del (p.Tyr1757fs) rs80359502
NM_000059.4(BRCA2):c.5279C>G (p.Ser1760Ter) rs80358751
NM_000059.4(BRCA2):c.5279del (p.Asp1759_Ser1760insTer) rs2137515902
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs) rs80359503
NM_000059.4(BRCA2):c.5297del (p.Asn1766fs) rs1555284157
NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter) rs80358757
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.5362del (p.Ser1788fs) rs587781849
NM_000059.4(BRCA2):c.5364dup (p.Lys1789fs) rs587779364
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.5465dup (p.Asn1822fs) rs1555284237
NM_000059.4(BRCA2):c.5467A>T (p.Lys1823Ter) rs276174858
NM_000059.4(BRCA2):c.5471dup (p.Asn1824fs) rs80359515
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs) rs80359516
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs) rs80359519
NM_000059.4(BRCA2):c.5557del (p.Cys1853fs) rs587782011
NM_000059.4(BRCA2):c.5557dup (p.Cys1853fs) rs587782011
NM_000059.4(BRCA2):c.5560_5561del (p.Val1854fs) rs397507787
NM_000059.4(BRCA2):c.5566_5567inv (p.His1856Cys)
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5583dup (p.Val1862fs) rs397507790
NM_000059.4(BRCA2):c.5585_5588del (p.Val1862fs) rs80359523
NM_000059.4(BRCA2):c.5593dup (p.Ile1865fs) rs2137518942
NM_000059.4(BRCA2):c.5595_5596del (p.Phe1866fs) rs80359524
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.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.5644_5647del (p.Ser1882fs) rs1555284326
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.5699C>G (p.Ser1900Ter) rs397507797
NM_000059.4(BRCA2):c.5702_5703del (p.Glu1901fs) rs80359528
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.5754_5755del (p.His1918fs) rs397507803
NM_000059.4(BRCA2):c.5763dup (p.Ala1922fs) rs80359534
NM_000059.4(BRCA2):c.5771_5774del (p.Ile1924fs) rs80359535
NM_000059.4(BRCA2):c.5773C>T (p.Gln1925Ter) rs80358806
NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter) rs56253082
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter) rs80358807
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.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.584C>G (p.Ser195Ter) rs886038053
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter) rs80358815
NM_000059.4(BRCA2):c.5879del (p.Cys1960fs) rs1555284442
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000059.4(BRCA2):c.5934del (p.Phe1978fs) rs80359548
NM_000059.4(BRCA2):c.5980C>T (p.Gln1994Ter) rs80358831
NM_000059.4(BRCA2):c.5993_5994del (p.Gln1998fs) rs886038136
NM_000059.4(BRCA2):c.6011_6017del (p.Glu2004fs) rs397507362
NM_000059.4(BRCA2):c.6014_6017del (p.Asp2005fs) rs1057518635
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.6059_6062del (p.Glu2020fs) rs398122546
NM_000059.4(BRCA2):c.6078_6079del (p.Glu2028fs) rs80359557
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs) rs80359558
NM_000059.4(BRCA2):c.6085G>T (p.Glu2029Ter) rs397507828
NM_000059.4(BRCA2):c.6091dup (p.Thr2031fs) rs587782717
NM_000059.4(BRCA2):c.6096dup (p.Ile2033fs) rs397507829
NM_000059.4(BRCA2):c.610del (p.Ser205fs) rs80359560
NM_000059.4(BRCA2):c.610dup (p.Leu204fs) rs80359560
NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter) rs80358851
NM_000059.4(BRCA2):c.613_614del (p.Ser205fs) rs1566219362
NM_000059.4(BRCA2):c.6155C>A (p.Ser2052Ter) rs786202461
NM_000059.4(BRCA2):c.6206T>G (p.Leu2069Ter) rs80358859
NM_000059.4(BRCA2):c.6209_6212del (p.Glu2070fs) rs276174866
NM_000059.4(BRCA2):c.6224_6225del (p.Lys2075fs)
NM_000059.4(BRCA2):c.6244del (p.Glu2082fs) rs2072549980
NM_000059.4(BRCA2):c.6263del (p.Thr2088fs) rs1064794647
NM_000059.4(BRCA2):c.6267_6269delinsC (p.Glu2089fs) rs276174868
NM_000059.4(BRCA2):c.6267_6270dup (p.Ser2091delinsAlaTer) rs730881611
NM_000059.4(BRCA2):c.6269del (p.His2090fs) rs1375058950
NM_000059.4(BRCA2):c.6302del (p.Asn2101fs) rs397507839
NM_000059.4(BRCA2):c.6313del (p.Ile2105fs) rs886040649
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile) rs80358871
NM_000059.4(BRCA2):c.632-2A>G rs397507842
NM_000059.4(BRCA2):c.6331_6332del (p.Lys2111fs) rs587781470
NM_000059.4(BRCA2):c.6333_6337del (p.Arg2112fs) rs397507369
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.6361_6362del (p.Glu2121fs) rs886038144
NM_000059.4(BRCA2):c.6373del (p.Thr2125fs) rs80359577
NM_000059.4(BRCA2):c.6373dup (p.Thr2125fs) rs80359577
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.6410del (p.Asn2137fs) rs886038146
NM_000059.4(BRCA2):c.6420_6421insA (p.Gly2141fs) rs397507852
NM_000059.4(BRCA2):c.643del (p.Glu215fs) rs2137458206
NM_000059.4(BRCA2):c.6444dup (p.Ile2149fs) rs80359590
NM_000059.4(BRCA2):c.6445_6446del (p.Ser2148_Ile2149insTer) rs80359592
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) rs80359593
NM_000059.4(BRCA2):c.6447_6448dup (p.Lys2150fs) rs397507858
NM_000059.4(BRCA2):c.6450dup (p.Val2151fs) rs80359594
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6468_6469dup (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6469C>T (p.Gln2157Ter) rs397507859
NM_000059.4(BRCA2):c.6478C>T (p.Gln2160Ter) rs886040658
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.6509_6510del (p.Lys2170fs) rs80359600
NM_000059.4(BRCA2):c.6531_6534del (p.Ile2177fs) rs397507865
NM_000059.4(BRCA2):c.6531dup (p.His2178fs) rs886040664
NM_000059.4(BRCA2):c.6532dup (p.His2178fs) rs886037798
NM_000059.4(BRCA2):c.6535_6536insA (p.Val2179fs) rs80359601
NM_000059.4(BRCA2):c.6547G>T (p.Glu2183Ter) rs397507866
NM_000059.4(BRCA2):c.6553del (p.Ala2185fs) rs80359603
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs) rs397507373
NM_000059.4(BRCA2):c.6582del (p.Ile2194fs) rs1566234955
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.6596_6597delinsA (p.Thr2199fs) rs1593909229
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer) rs80359607
NM_000059.4(BRCA2):c.6622_6623del (p.Asn2208fs)
NM_000059.4(BRCA2):c.662_663del (p.Phe221fs) rs80359609
NM_000059.4(BRCA2):c.6634_6637del (p.Cys2212fs) rs397507871
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.6645C>G (p.Tyr2215Ter) rs80358892
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.6696del (p.Ala2233fs) rs878853301
NM_000059.4(BRCA2):c.67+1G>A rs81002796
NM_000059.4(BRCA2):c.67+1G>C rs81002796
NM_000059.4(BRCA2):c.6715G>T (p.Glu2239Ter) rs276174876
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.68-1G>T rs1060502376
NM_000059.4(BRCA2):c.68-2_316+1del rs2138703519
NM_000059.4(BRCA2):c.6808_6836del (p.Gly2270fs) rs2137530818
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.4(BRCA2):c.682-1G>T rs81002831
NM_000059.4(BRCA2):c.6833_6837del (p.Ile2278fs) rs80359626
NM_000059.4(BRCA2):c.684del (p.Asn228fs) rs2137461104
NM_000059.4(BRCA2):c.688A>T (p.Lys230Ter) rs80358913
NM_000059.4(BRCA2):c.6916_6917insA (p.Ala2306fs)
NM_000059.4(BRCA2):c.691_692delinsGA (p.Ser231Asp) rs2072384735
NM_000059.4(BRCA2):c.6941del (p.Thr2314fs) rs80359628
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.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro) rs28897743
NM_000059.4(BRCA2):c.7008-2A>G rs81002823
NM_000059.4(BRCA2):c.7008-2A>T rs81002823
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
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.712G>T (p.Glu238Ter) rs56383036
NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter) rs276174889
NM_000059.4(BRCA2):c.7151_7152del (p.Gln2384fs) rs276174890
NM_000059.4(BRCA2):c.715del (p.Ser239fs) rs431825350
NM_000059.4(BRCA2):c.716del (p.Ser239fs)
NM_000059.4(BRCA2):c.7177del (p.Lys2392_Met2393insTer) rs397507899
NM_000059.4(BRCA2):c.7183del (p.His2395fs) rs397507900
NM_000059.4(BRCA2):c.71del (p.Asp23_Leu24insTer) rs397507903
NM_000059.4(BRCA2):c.7208_7211del (p.Thr2403fs) rs80359641
NM_000059.4(BRCA2):c.7209_7212delinsGG (p.Lys2404fs) rs876659770
NM_000059.4(BRCA2):c.7234_7235insG (p.Thr2412fs) rs397507906
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.728del (p.Asn243fs) rs886040697
NM_000059.4(BRCA2):c.729_732del (p.Asn243fs) rs80359645
NM_000059.4(BRCA2):c.7301del (p.Lys2434fs) rs786202441
NM_000059.4(BRCA2):c.732_733del (p.Asp244fs) rs1408096224
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter) rs397507912
NM_000059.4(BRCA2):c.7379_7380insG (p.Asn2460fs) rs80359647
NM_000059.4(BRCA2):c.7380_7381insG (p.Asn2461fs) rs730881612
NM_000059.4(BRCA2):c.7409dup (p.Thr2471fs) rs397507915
NM_000059.4(BRCA2):c.7414_7415del (p.Lys2472fs) rs80359650
NM_000059.4(BRCA2):c.7419_7420del (p.Cys2473_Glu2474delinsTer) rs80359651
NM_000059.4(BRCA2):c.7467dup (p.Ile2490fs) rs397507918
NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter) rs80358971
NM_000059.4(BRCA2):c.7485dup (p.Lys2496Ter) rs886038171
NM_000059.4(BRCA2):c.748del (p.Ser249_Val250insTer) rs80359654
NM_000059.4(BRCA2):c.7543dup (p.Thr2515fs) rs80359657
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs) rs80359659
NM_000059.4(BRCA2):c.7580dup (p.Gly2528fs) rs1555286298
NM_000059.4(BRCA2):c.7617+1G>A rs397507922
NM_000059.4(BRCA2):c.7617+2T>G rs81002843
NM_000059.4(BRCA2):c.7618-1G>A rs397507389
NM_000059.4(BRCA2):c.7632_7633del (p.Val2545fs) rs2137566201
NM_000059.4(BRCA2):c.7667del (p.Asn2556fs) rs878853303
NM_000059.4(BRCA2):c.7673_7674del (p.Glu2558fs) rs80359672
NM_000059.4(BRCA2):c.7679_7680del (p.Phe2560fs) rs80359673
NM_000059.4(BRCA2):c.7681C>T (p.Gln2561Ter) rs80358994
NM_000059.4(BRCA2):c.7689del (p.His2563fs) rs80359674
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.4(BRCA2):c.7721G>A (p.Trp2574Ter) rs80358997
NM_000059.4(BRCA2):c.7722G>A (p.Trp2574Ter) rs1060502433
NM_000059.4(BRCA2):c.7726G>T (p.Gly2576Ter) rs1210418849
NM_000059.4(BRCA2):c.774_775del (p.Glu260fs) rs75096777
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.7792G>T (p.Glu2598Ter) rs1135401919
NM_000059.4(BRCA2):c.7805+1G>A rs81002809
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.7847del (p.Ser2616fs) rs80359685
NM_000059.4(BRCA2):c.7856G>A (p.Trp2619Ter) rs397507941
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter) rs80359011
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter) rs587781506
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.787dup (p.Ser263fs) rs690016538
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.7974C>A (p.Tyr2658Ter) rs80359025
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.7977-1G>C rs81002874
NM_000059.4(BRCA2):c.7977-2A>G rs276174899
NM_000059.4(BRCA2):c.7979_7991del (p.Tyr2660fs) rs730881614
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter) rs276174900
NM_000059.4(BRCA2):c.800dup (p.Thr269fs) rs1555281594
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8053dup (p.Thr2685fs) rs397507958
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.4(BRCA2):c.8070_8071dup (p.Ser2691fs) rs397507962
NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter) rs80359050
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.8168A>T (p.Asp2723Val) rs41293513
NM_000059.4(BRCA2):c.8174_8185delinsTT (p.Trp2725fs) rs730881615
NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter) rs397507965
NM_000059.4(BRCA2):c.8195T>A (p.Leu2732Ter) rs397507967
NM_000059.4(BRCA2):c.8195T>G (p.Leu2732Ter) rs397507967
NM_000059.4(BRCA2):c.8206del (p.Leu2736fs) rs397507396
NM_000059.4(BRCA2):c.8206dup (p.Leu2736fs) rs397507396
NM_000059.4(BRCA2):c.8247_8248del (p.Lys2750fs) rs80359701
NM_000059.4(BRCA2):c.8253dup (p.Ile2752fs) rs80359704
NM_000059.4(BRCA2):c.8308del (p.Ala2770fs) rs398122601
NM_000059.4(BRCA2):c.8322dup (p.Met2775fs) rs80359706
NM_000059.4(BRCA2):c.8331+1G>A rs81002837
NM_000059.4(BRCA2):c.8331+2T>C rs398122602
NM_000059.4(BRCA2):c.8332-1G>A rs397507979
NM_000059.4(BRCA2):c.8332-1G>C rs397507979
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs) rs276174907
NM_000059.4(BRCA2):c.8395del (p.Arg2799fs) rs80359709
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.8537_8538del (p.Glu2846fs) rs80359714
NM_000059.4(BRCA2):c.8548_8551del (p.Glu2850fs) rs397507406
NM_000059.4(BRCA2):c.8548del (p.Glu2850fs) rs1555287766
NM_000059.4(BRCA2):c.8575C>T (p.Gln2859Ter) rs80359115
NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter) rs1131692035
NM_000059.4(BRCA2):c.8581A>T (p.Arg2861Ter) rs398122608
NM_000059.4(BRCA2):c.8594dup (p.Leu2865fs) rs80359721
NM_000059.4(BRCA2):c.8632+2T>C rs397507998
NM_000059.4(BRCA2):c.8633-24_8634del rs886040945
NM_000059.4(BRCA2):c.8639_8640del (p.Thr2880fs) rs886038184
NM_000059.4(BRCA2):c.8639_8643del (p.Thr2880fs) rs2137612282
NM_000059.4(BRCA2):c.8655dup (p.Pro2886fs) rs1135401927
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.8680del (p.Gln2894fs) rs397507410
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter) rs397507411
NM_000059.4(BRCA2):c.8725A>T (p.Lys2909Ter) rs2072875960
NM_000059.4(BRCA2):c.8732del (p.Ala2911fs) rs2137613348
NM_000059.4(BRCA2):c.8754+1G>A rs397508006
NM_000059.4(BRCA2):c.8754+1G>T rs397508006
NM_000059.4(BRCA2):c.8754+4A>G rs81002893
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8773C>T (p.Gln2925Ter) rs80359134
NM_000059.4(BRCA2):c.8827del (p.Gln2943fs) rs2137619587
NM_000059.4(BRCA2):c.8839G>T (p.Glu2947Ter) rs398122715
NM_000059.4(BRCA2):c.8850_8851dup (p.Ala2951fs) rs886040796
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter) rs80359140
NM_000059.4(BRCA2):c.8890dup (p.Arg2964fs) rs397508017
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs) rs276174914
NM_000059.4(BRCA2):c.8930del (p.Tyr2977fs) rs869320799
NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter) rs80359144
NM_000059.4(BRCA2):c.8940del (p.Glu2981fs) rs80359732
NM_000059.4(BRCA2):c.8953+1G>T rs81002882
NM_000059.4(BRCA2):c.8954-1G>A rs1555288435
NM_000059.4(BRCA2):c.8954-1_8955delinsAA rs276174916
NM_000059.4(BRCA2):c.8954-2A>C rs1135401928
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.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9011del (p.Lys3004fs) rs886037804
NM_000059.4(BRCA2):c.9014_9017dup (p.Tyr3006Ter) rs1555288462
NM_000059.4(BRCA2):c.9025del (p.Tyr3009fs) rs786203575
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs) rs80359741
NM_000059.4(BRCA2):c.9027del (p.His3010fs) rs80359742
NM_000059.4(BRCA2):c.9073_9078del (p.Ile3025_Gln3026del) rs2137623346
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter) rs80359159
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9100C>T (p.Gln3034Ter) rs80359163
NM_000059.4(BRCA2):c.9117+1G>A rs81002802
NM_000059.4(BRCA2):c.9118-1G>C rs886040950
NM_000059.4(BRCA2):c.9147C>G (p.Tyr3049Ter) rs886040823
NM_000059.4(BRCA2):c.9163del (p.Leu3055fs) rs2072913259
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.9246dup (p.Lys3083fs) rs886038189
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs) rs276174918
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9256_9256+1delinsTA rs587781422
NM_000059.4(BRCA2):c.9257-1G>C rs81002889
NM_000059.4(BRCA2):c.9257-2A>G rs886040954
NM_000059.4(BRCA2):c.925del (p.Ser309fs) rs886038058
NM_000059.4(BRCA2):c.927del (p.Leu310fs) rs886040828
NM_000059.4(BRCA2):c.9285C>A (p.Asp3095Glu) rs80359198
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter) rs397508045
NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter) rs80359205
NM_000059.4(BRCA2):c.9318G>A (p.Trp3106Ter) rs771203198
NM_000059.4(BRCA2):c.931del (p.Cys311fs) rs2137466012
NM_000059.4(BRCA2):c.9331_9335delinsCCT (p.Glu3111fs) rs886040831
NM_000059.4(BRCA2):c.9352_9353del (p.Met3118fs) rs786203318
NM_000059.4(BRCA2):c.9356T>G (p.Leu3119Ter) rs80359207
NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter) rs80359211
NM_000059.4(BRCA2):c.9401del (p.Gly3134fs) rs80359759
NM_000059.4(BRCA2):c.9409dup (p.Thr3137fs)
NM_000059.4(BRCA2):c.9413dup (p.Leu3138fs) rs876659435
NM_000059.4(BRCA2):c.9430del (p.Ser3144fs) rs80359762
NM_000059.4(BRCA2):c.9431del (p.Ser3144fs) rs397508051
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs) rs80359763
NM_000059.4(BRCA2):c.9481A>T (p.Lys3161Ter) rs80359222
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.961C>T (p.Gln321Ter) rs80359234
NM_000059.4(BRCA2):c.9666del (p.Cys3222fs) rs80359772
NM_000059.4(BRCA2):c.9676del (p.Tyr3226fs) rs80359774
NM_000059.4(BRCA2):c.9682del (p.Ser3228fs) rs398122618
NM_000059.4(BRCA2):c.9739C>T (p.Gln3247Ter) rs886040849
NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs) rs886040850
NM_000059.4(BRCA2):c.9753del (p.Lys3251fs) rs886037805
NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter) rs80359247
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter) rs4987049
NM_000059.4(BRCA2):c.994del (p.Ile332fs) rs80359777
NM_000059.4(BRCA2):c.998dup (p.His334fs) rs397507437
NM_000059.4:c.5007_5008insAlu
NM_000125.4(ESR1):c.1387T>C (p.Ser463Pro) rs1057519714
NM_000125.4(ESR1):c.1601T>A (p.Val534Glu) rs1057519715
NM_000125.4(ESR1):c.1604C>A (p.Pro535His) rs1057519716
NM_000125.4(ESR1):c.1607T>G (p.Leu536Arg) rs1057519717
NM_000136.3(FANCC):c.166-165_250+3del rs2136090574
NM_000179.3(MSH6):c.1572_1573del (p.Tyr524_Ser525delinsTer) rs1114167702
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs) rs1553333072
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs) rs63751319
NM_000179.3(MSH6):c.652A>T (p.Lys218Ter) rs587779315
NM_000179.3(MSH6):c.741del (p.Lys247fs) rs267608041
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu) rs63750726
NM_000249.4(MLH1):c.393del (p.Asp132fs) rs2081922847
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.204del (p.Pro69fs) rs63750199
NM_000251.3(MSH2):c.229_230del (p.Ser77fs) rs63749848
NM_000251.3(MSH2):c.2484dup (p.His829fs) rs1553370324
NM_000251.3(MSH2):c.387_388del (p.Gln130fs) rs63750924
NM_000251.3(MSH2):c.482T>C (p.Val161Ala) rs63750126
NM_000251.3(MSH2):c.792+1G>C rs267607934
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.204C>A (p.Tyr68Ter) rs773176120
NM_000314.8(PTEN):c.249C>A (p.Cys83Ter) rs1554897879
NM_000314.8(PTEN):c.477G>T (p.Arg159Ser) rs1057519724
NM_000314.8(PTEN):c.492+1del rs1564830522
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.800del (p.Lys267fs) rs121913289
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) rs146650273
NM_000465.3(BARD1):c.1569-?_*3030+?del
NM_000465.4(BARD1):c.1002del (p.Arg335fs) rs1694972839
NM_000465.4(BARD1):c.1003A>T (p.Arg335Ter) rs1694972567
NM_000465.4(BARD1):c.100dup (p.Trp34fs) rs1553628410
NM_000465.4(BARD1):c.1014del (p.Ser339fs) rs1064793682
NM_000465.4(BARD1):c.101G>A (p.Trp34Ter)
NM_000465.4(BARD1):c.1021dup (p.Leu341fs) rs1553622300
NM_000465.4(BARD1):c.1023del (p.Ser342fs) rs876660061
NM_000465.4(BARD1):c.102G>A (p.Trp34Ter) rs879254280
NM_000465.4(BARD1):c.1037dup (p.Asp346fs)
NM_000465.4(BARD1):c.103del (p.Ala35fs)
NM_000465.4(BARD1):c.103dup (p.Ala35fs)
NM_000465.4(BARD1):c.1048C>T (p.Gln350Ter) rs2106109048
NM_000465.4(BARD1):c.105_135del (p.His36fs)
NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter) rs786202559
NM_000465.4(BARD1):c.1068_1071del (p.Ile357fs) rs2106108885
NM_000465.4(BARD1):c.1069del (p.Ile357fs)
NM_000465.4(BARD1):c.1069dup (p.Ile357fs) rs2106108903
NM_000465.4(BARD1):c.1086T>A (p.Cys362Ter)
NM_000465.4(BARD1):c.1124del (p.Thr375fs)
NM_000465.4(BARD1):c.1134_1136delinsC (p.Arg378fs)
NM_000465.4(BARD1):c.1139del (p.Asn380fs)
NM_000465.4(BARD1):c.1147_1148del (p.Met383fs)
NM_000465.4(BARD1):c.1156G>T (p.Glu386Ter) rs1553622218
NM_000465.4(BARD1):c.1160_1164dup (p.Ser391fs) rs2106108347
NM_000465.4(BARD1):c.1160del (p.Phe387fs) rs1553622216
NM_000465.4(BARD1):c.1164_1189del (p.Ser389fs)
NM_000465.4(BARD1):c.1168_1169insG (p.Leu390fs)
NM_000465.4(BARD1):c.1172C>G (p.Ser391Ter) rs878853995
NM_000465.4(BARD1):c.1177_1180dup (p.Thr394fs) rs1559423694
NM_000465.4(BARD1):c.1187_1196delinsTTG (p.Pro396fs) rs1694949382
NM_000465.4(BARD1):c.1196T>G (p.Leu399Ter) rs1172609046
NM_000465.4(BARD1):c.1210del (p.Tyr404fs) rs1694947319
NM_000465.4(BARD1):c.1211dup (p.Tyr404Ter) rs1553622178
NM_000465.4(BARD1):c.1224_1227del (p.Met408fs) rs1553622164
NM_000465.4(BARD1):c.1227_1230del (p.Ser410fs) rs2106107966
NM_000465.4(BARD1):c.1227_1231del (p.Ser410fs) rs1553622160
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer) rs1553622145
NM_000465.4(BARD1):c.1250del (p.Leu417fs)
NM_000465.4(BARD1):c.1255_1256del (p.Asn419fs)
NM_000465.4(BARD1):c.1264_1267delinsATG (p.Val422fs) rs786203533
NM_000465.4(BARD1):c.1270del (p.Arg424fs) rs876660911
NM_000465.4(BARD1):c.1278_1279del (p.His426fs) rs1694939675
NM_000465.4(BARD1):c.1281_1284del (p.Gly428fs) rs1553622103
NM_000465.4(BARD1):c.1291_1292del (p.Leu431fs)
NM_000465.4(BARD1):c.1307_1310del (p.Ser436fs) rs1574815812
NM_000465.4(BARD1):c.1314+1G>A rs753785671
NM_000465.4(BARD1):c.1322_1323dup (p.Pro442fs)
NM_000465.4(BARD1):c.1323dup (p.Pro442fs) rs1694365908
NM_000465.4(BARD1):c.1325del (p.Pro442fs) rs1060501287
NM_000465.4(BARD1):c.1328_1329del (p.Ser443fs) rs1694365276
NM_000465.4(BARD1):c.1329del (p.Val444fs) rs767587416
NM_000465.4(BARD1):c.1338C>G (p.Tyr446Ter) rs761702998
NM_000465.4(BARD1):c.1339_1340insA (p.Leu447fs)
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
NM_000465.4(BARD1):c.1343T>A (p.Leu448Ter)
NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter) rs1553619721
NM_000465.4(BARD1):c.1345del (p.Gln449fs) rs2106081379
NM_000465.4(BARD1):c.1348_1349delinsCAT (p.Asn450fs) rs1553619713
NM_000465.4(BARD1):c.1349dup (p.Asn450fs) rs876660390
NM_000465.4(BARD1):c.1350dup (p.Gly451fs)
NM_000465.4(BARD1):c.1366_1369delinsCTT (p.Val456fs) rs1694360411
NM_000465.4(BARD1):c.1371dup (p.Asp458fs) rs1553619704
NM_000465.4(BARD1):c.1375del (p.His459fs)
NM_000465.4(BARD1):c.1386G>A (p.Trp462Ter)
NM_000465.4(BARD1):c.1394T>A (p.Leu465Ter) rs1370053894
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter) rs1553619349
NM_000465.4(BARD1):c.1426del (p.Lys475_Val476insTer) rs1559410146
NM_000465.4(BARD1):c.1429del (p.Val477fs)
NM_000465.4(BARD1):c.1444del (p.Gln482fs)
NM_000465.4(BARD1):c.144_151del (p.Arg49fs)
NM_000465.4(BARD1):c.1450A>T (p.Lys484Ter) rs1694273552
NM_000465.4(BARD1):c.1474dup (p.Tyr492fs)
NM_000465.4(BARD1):c.1476T>G (p.Tyr492Ter)
NM_000465.4(BARD1):c.1480_1481del (p.Gln493_Asn494insTer) rs2106076720
NM_000465.4(BARD1):c.1487C>G (p.Ser496Ter) rs1405646805
NM_000465.4(BARD1):c.1499dup (p.Asp500fs) rs1553619258
NM_000465.4(BARD1):c.150C>A (p.Cys50Ter)
NM_000465.4(BARD1):c.1510_1514dup (p.His506fs)
NM_000465.4(BARD1):c.1525_1528dup (p.Val510fs)
NM_000465.4(BARD1):c.1531A>T (p.Lys511Ter)
NM_000465.4(BARD1):c.1535del (p.Leu512fs) rs2106076377
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter) rs2106076340
NM_000465.4(BARD1):c.1540del (p.Leu514fs)
NM_000465.4(BARD1):c.1543del (p.Ser515fs)
NM_000465.4(BARD1):c.1569-12T>G rs879254246
NM_000465.4(BARD1):c.1569-1_1677+2del rs2106038518
NM_000465.4(BARD1):c.157del (p.Cys53fs) rs1696452439
NM_000465.4(BARD1):c.159-1G>A rs879254139
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.159-2A>C rs1424761304
NM_000465.4(BARD1):c.1590_1617del (p.Val531fs)
NM_000465.4(BARD1):c.1597del (p.Tyr533fs)
NM_000465.4(BARD1):c.1598del (p.Tyr533fs)
NM_000465.4(BARD1):c.159T>G (p.Cys53Trp) rs201708813
NM_000465.4(BARD1):c.1600_1634delinsGCG (p.Thr534fs) rs1064792931
NM_000465.4(BARD1):c.1604_1622delinsCA (p.Asp535fs)
NM_000465.4(BARD1):c.1620del (p.Lys540fs) rs1693504040
NM_000465.4(BARD1):c.1622C>A (p.Ser541Ter) rs777937955
NM_000465.4(BARD1):c.1628_1632del (p.Leu543fs)
NM_000465.4(BARD1):c.1635_1663dup (p.Ser555fs) rs1553616352
NM_000465.4(BARD1):c.1639G>T (p.Glu547Ter) rs876658429
NM_000465.4(BARD1):c.1639_1667del (p.Glu547fs)
NM_000465.4(BARD1):c.1641_1645dup (p.Asn549fs) rs1553616361
NM_000465.4(BARD1):c.1656del (p.Ser553fs) rs1574756047
NM_000465.4(BARD1):c.1658C>A (p.Ser553Ter)
NM_000465.4(BARD1):c.1658C>G (p.Ser553Ter)
NM_000465.4(BARD1):c.1662_1665del (p.Ser555fs) rs753537518
NM_000465.4(BARD1):c.1673C>G (p.Ser558Ter)
NM_000465.4(BARD1):c.1678-1G>A
NM_000465.4(BARD1):c.1678-2A>G rs1693089850
NM_000465.4(BARD1):c.1678-5_1903+5del
NM_000465.4(BARD1):c.168del (p.Ile56_Leu57insTer) rs1574847428
NM_000465.4(BARD1):c.1696_1697del (p.Arg566fs)
NM_000465.4(BARD1):c.1718_1730del (p.Ile573fs)
NM_000465.4(BARD1):c.1723_1729del (p.Ser575fs) rs2106021114
NM_000465.4(BARD1):c.1725_1903+740del
NM_000465.4(BARD1):c.1728dup (p.Leu577fs)
NM_000465.4(BARD1):c.1735dup (p.Ser579fs)
NM_000465.4(BARD1):c.1736C>A (p.Ser579Ter)
NM_000465.4(BARD1):c.1736C>G (p.Ser579Ter)
NM_000465.4(BARD1):c.1741C>T (p.Gln581Ter) rs2106021020
NM_000465.4(BARD1):c.1744C>T (p.Gln582Ter) rs1553615135
NM_000465.4(BARD1):c.1758_1761del (p.Glu587fs) rs1574739207
NM_000465.4(BARD1):c.1765dup (p.Ala589fs)
NM_000465.4(BARD1):c.176_177del (p.Glu59fs) rs1057517589
NM_000465.4(BARD1):c.1771del (p.Ile591fs) rs1574739114
NM_000465.4(BARD1):c.1776_1777insTTTTTTTTTTTTTTTTTTTGNNNNNNNNNNCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGCAGTAATTCTT (p.Lys593delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuAspLeuLeuThrSerTer) rs2106020750
NM_000465.4(BARD1):c.1786_1793del (p.Lys595_Lys596insTer) rs1693074467
NM_000465.4(BARD1):c.1786_1804del (p.Lys596fs) rs1553615102
NM_000465.4(BARD1):c.1788_1792del (p.Lys596fs)
NM_000465.4(BARD1):c.1788del (p.Lys596fs) rs1574739005
NM_000465.4(BARD1):c.1788dup (p.Tyr597fs)
NM_000465.4(BARD1):c.1789_1792del (p.Tyr597fs)
NM_000465.4(BARD1):c.1790_1794dup (p.Glu599fs)
NM_000465.4(BARD1):c.1809del (p.Thr603_Val604insTer) rs1553615092
NM_000465.4(BARD1):c.1811-2A>G rs1693044156
NM_000465.4(BARD1):c.1817del (p.His606fs)
NM_000465.4(BARD1):c.1819del (p.Val607fs)
NM_000465.4(BARD1):c.1829del (p.Pro610fs) rs1693042024
NM_000465.4(BARD1):c.1833dup (p.Asp612Ter) rs1553614963
NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)
NM_000465.4(BARD1):c.1843C>T (p.Gln615Ter) rs751710099
NM_000465.4(BARD1):c.184del (p.Cys62fs) rs1559441846
NM_000465.4(BARD1):c.1851delinsTG (p.Leu618fs)
NM_000465.4(BARD1):c.1854_1855dup (p.Lys619fs)
NM_000465.4(BARD1):c.1857dup (p.Cys620fs)
NM_000465.4(BARD1):c.185_186del (p.Cys62fs) rs2106145629
NM_000465.4(BARD1):c.1872del (p.Leu625fs) rs876659572
NM_000465.4(BARD1):c.1875_1876del (p.Asn626fs)
NM_000465.4(BARD1):c.1887G>A (p.Trp629Ter) rs878854003
NM_000465.4(BARD1):c.1900G>T (p.Glu634Ter)
NM_000465.4(BARD1):c.1903+2T>C rs1574737047
NM_000465.4(BARD1):c.1904-502_*2del
NM_000465.4(BARD1):c.1904G>A (p.Trp635Ter) rs1692308262
NM_000465.4(BARD1):c.1905G>A (p.Trp635Ter) rs773223671
NM_000465.4(BARD1):c.1910_1911dup (p.Ala638fs)
NM_000465.4(BARD1):c.1911del (p.Ala638fs)
NM_000465.4(BARD1):c.1911dup (p.Ala638fs)
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) rs587782504
NM_000465.4(BARD1):c.1935_1954del (p.Cys645_Glu652delinsTer) rs587780024
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000465.4(BARD1):c.1939C>T (p.Gln647Ter) rs1350570988
NM_000465.4(BARD1):c.1944del (p.Glu649fs)
NM_000465.4(BARD1):c.1949del (p.Lys650fs) rs1692302934
NM_000465.4(BARD1):c.1970del (p.Pro657fs) rs786203739
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter) rs730881422
NM_000465.4(BARD1):c.199del (p.Glu67fs)
NM_000465.4(BARD1):c.2001+1G>T rs768490891
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter) rs1328046615
NM_000465.4(BARD1):c.2024del (p.Cys675fs) rs2105987971
NM_000465.4(BARD1):c.2036T>A (p.Leu679Ter) rs1692227690
NM_000465.4(BARD1):c.2038_2042del (p.Trp680fs) rs1553612222
NM_000465.4(BARD1):c.2040G>A (p.Trp680Ter)
NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter) rs1559372578
NM_000465.4(BARD1):c.2063dup (p.Asp689fs) rs1064796026
NM_000465.4(BARD1):c.2104_2111del (p.Gln701_Ile702insTer)
NM_000465.4(BARD1):c.2126dup (p.Asp710fs)
NM_000465.4(BARD1):c.2129_2132del (p.Asp710fs) rs1692216921
NM_000465.4(BARD1):c.212G>A (p.Cys71Tyr) rs1064793959
NM_000465.4(BARD1):c.2137_2141del (p.Val713fs)
NM_000465.4(BARD1):c.2138del (p.Val713fs)
NM_000465.4(BARD1):c.2143C>T (p.Gln715Ter) rs1553612164
NM_000465.4(BARD1):c.2144dup (p.Thr716fs) rs1574703115
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs) rs786203811
NM_000465.4(BARD1):c.2157_2160dup (p.Ala721fs)
NM_000465.4(BARD1):c.2159_2172del (p.Val720fs) rs1692211675
NM_000465.4(BARD1):c.216-1G>T
NM_000465.4(BARD1):c.2164_2200del (p.Tyr722fs)
NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter)
NM_000465.4(BARD1):c.2188C>T (p.Gln730Ter)
NM_000465.4(BARD1):c.2195del (p.Phe732fs)
NM_000465.4(BARD1):c.2204_2205insTA (p.Gln735fs)
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter) rs2105986813
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs)
NM_000465.4(BARD1):c.2228del (p.Cys743fs)
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter) rs1259296823
NM_000465.4(BARD1):c.225_228del (p.Ser76fs) rs1553624830
NM_000465.4(BARD1):c.2262del (p.Val755fs)
NM_000465.4(BARD1):c.2267G>A (p.Trp756Ter) rs1358155595
NM_000465.4(BARD1):c.2268del (p.Val755_Trp756insTer) rs1559371635
NM_000465.4(BARD1):c.226del (p.Ser76fs) rs1559437264
NM_000465.4(BARD1):c.2276dup (p.Ser760fs)
NM_000465.4(BARD1):c.22_38delinsGTT (p.Arg8fs)
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000465.4(BARD1):c.2300_2301dup (p.Met768Ter)
NM_000465.4(BARD1):c.230_233del (p.Asp77fs)
NM_000465.4(BARD1):c.234C>A (p.Cys78Ter)
NM_000465.4(BARD1):c.244G>T (p.Gly82Ter) rs1559437226
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg) rs1559437198
NM_000465.4(BARD1):c.249T>A (p.Cys83Ter)
NM_000465.4(BARD1):c.266del (p.Pro89fs) rs1553624802
NM_000465.4(BARD1):c.26_40delinsTAATCGGT (p.Asn9fs)
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter) rs1559437094
NM_000465.4(BARD1):c.273G>A (p.Trp91Ter) rs2106135008
NM_000465.4(BARD1):c.273del (p.Ala90_Trp91insTer) rs1553624801
NM_000465.4(BARD1):c.277C>T (p.Gln93Ter) rs876658571
NM_000465.4(BARD1):c.282del (p.Asp94_Leu95insTer)
NM_000465.4(BARD1):c.286A>T (p.Lys96Ter)
NM_000465.4(BARD1):c.292_295del (p.Asn98fs) rs1553624758
NM_000465.4(BARD1):c.295del (p.Arg99fs)
NM_000465.4(BARD1):c.295dup (p.Arg99fs)
NM_000465.4(BARD1):c.298C>T (p.Gln100Ter) rs786201912
NM_000465.4(BARD1):c.302del (p.Leu101fs)
NM_000465.4(BARD1):c.30dup (p.Gln11fs) rs1553628482
NM_000465.4(BARD1):c.316C>T (p.Gln106Ter) rs2106134639
NM_000465.4(BARD1):c.341T>A (p.Leu114Ter)
NM_000465.4(BARD1):c.35del (p.Pro12fs)
NM_000465.4(BARD1):c.362C>G (p.Ser121Ter)
NM_000465.4(BARD1):c.369_378del (p.Lys124fs)
NM_000465.4(BARD1):c.39_40del (p.Arg13fs)
NM_000465.4(BARD1):c.3G>A (p.Met1Ile) rs587780031
NM_000465.4(BARD1):c.413_419del (p.Asn138fs) rs1574821575
NM_000465.4(BARD1):c.415_416del (p.Lys139fs) rs1420243208
NM_000465.4(BARD1):c.433_435delinsTA (p.Met145fs)
NM_000465.4(BARD1):c.434dup (p.Met145fs)
NM_000465.4(BARD1):c.437G>A (p.Trp146Ter)
NM_000465.4(BARD1):c.438G>A (p.Trp146Ter) rs587781806
NM_000465.4(BARD1):c.438_439del (p.Trp146fs)
NM_000465.4(BARD1):c.441dup (p.Ser148Ter) rs1553622681
NM_000465.4(BARD1):c.457_460dup (p.Val154fs) rs772486760
NM_000465.4(BARD1):c.461_464del (p.Val154fs)
NM_000465.4(BARD1):c.463A>T (p.Arg155Ter) rs1553622669
NM_000465.4(BARD1):c.468T>G (p.Tyr156Ter)
NM_000465.4(BARD1):c.46_68dup (p.Ala25fs) rs1553628445
NM_000465.4(BARD1):c.483_490del (p.Ser162fs)
NM_000465.4(BARD1):c.490C>T (p.Gln164Ter) rs750350372
NM_000465.4(BARD1):c.496C>T (p.Gln166Ter) rs786202500
NM_000465.4(BARD1):c.50_62del (p.Gly17fs)
NM_000465.4(BARD1):c.512_513del (p.Lys171fs)
NM_000465.4(BARD1):c.513del (p.Asp172fs)
NM_000465.4(BARD1):c.513dup (p.Asp172fs) rs746325928
NM_000465.4(BARD1):c.517dup (p.Ala173fs) rs1574821129
NM_000465.4(BARD1):c.526C>T (p.Gln176Ter) rs776851287
NM_000465.4(BARD1):c.529C>T (p.Gln177Ter)
NM_000465.4(BARD1):c.536C>G (p.Ser179Ter)
NM_000465.4(BARD1):c.539_540del (p.Ser179_Tyr180insTer) rs779427628
NM_000465.4(BARD1):c.541G>T (p.Glu181Ter)
NM_000465.4(BARD1):c.543del (p.Glu181fs)
NM_000465.4(BARD1):c.550del (p.Ser184fs)
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter) rs752514155
NM_000465.4(BARD1):c.580_581del (p.Arg194fs)
NM_000465.4(BARD1):c.583dup (p.Ala195fs)
NM_000465.4(BARD1):c.589A>T (p.Lys197Ter)
NM_000465.4(BARD1):c.590del (p.Lys197fs)
NM_000465.4(BARD1):c.596_597dup (p.Ala200fs) rs1574820590
NM_000465.4(BARD1):c.601A>T (p.Arg201Ter)
NM_000465.4(BARD1):c.601del (p.Arg201fs)
NM_000465.4(BARD1):c.607G>T (p.Gly203Ter) rs730881415
NM_000465.4(BARD1):c.614del (p.Lys205fs) rs1559425604
NM_000465.4(BARD1):c.614dup (p.Gln206fs) rs1559425604
NM_000465.4(BARD1):c.616C>T (p.Gln206Ter) rs1453894904
NM_000465.4(BARD1):c.616dup (p.Gln206fs) rs2106111411
NM_000465.4(BARD1):c.623_624insT (p.Lys208fs) rs1695009134
NM_000465.4(BARD1):c.623del (p.Lys208fs)
NM_000465.4(BARD1):c.623dup (p.Lys209fs) rs587780033
NM_000465.4(BARD1):c.624dup (p.Lys209fs) rs1553622558
NM_000465.4(BARD1):c.627_628del (p.Lys209fs) rs864622223
NM_000465.4(BARD1):c.628del (p.Thr210fs)
NM_000465.4(BARD1):c.631_632del (p.Leu211fs)
NM_000465.4(BARD1):c.632T>A (p.Leu211Ter) rs762171436
NM_000465.4(BARD1):c.632T>G (p.Leu211Ter) rs762171436
NM_000465.4(BARD1):c.632del (p.Thr210_Leu211insTer)
NM_000465.4(BARD1):c.632dup (p.Leu211fs) rs999444545
NM_000465.4(BARD1):c.640dup (p.Ile214fs)
NM_000465.4(BARD1):c.646del (p.Gln216fs) rs1553622542
NM_000465.4(BARD1):c.653G>A (p.Trp218Ter) rs1553622534
NM_000465.4(BARD1):c.654G>A (p.Trp218Ter) rs1553622530
NM_000465.4(BARD1):c.657_660del (p.Asn219fs) rs587781671
NM_000465.4(BARD1):c.659del (p.Asn219_Leu220insTer)
NM_000465.4(BARD1):c.65_101del (p.Ser22fs) rs1574869326
NM_000465.4(BARD1):c.673G>T (p.Glu225Ter) rs1064793049
NM_000465.4(BARD1):c.680dup (p.Gly227_Glu228insTer)
NM_000465.4(BARD1):c.682G>T (p.Glu228Ter)
NM_000465.4(BARD1):c.684del (p.Glu228fs)
NM_000465.4(BARD1):c.686_687insG (p.Phe229fs)
NM_000465.4(BARD1):c.697G>T (p.Glu233Ter)
NM_000465.4(BARD1):c.69_70delinsTCCGGGAACGAGCCTCGTTCCGCGT (p.Ala25fs) rs876659040
NM_000465.4(BARD1):c.700G>T (p.Glu234Ter) rs905491643
NM_000465.4(BARD1):c.709C>T (p.Gln237Ter) rs587780035
NM_000465.4(BARD1):c.716_732del (p.Leu239fs)
NM_000465.4(BARD1):c.716del (p.Leu239fs) rs2106110871
NM_000465.4(BARD1):c.730dup (p.Ser244fs)
NM_000465.4(BARD1):c.733C>T (p.Gln245Ter) rs587781430
NM_000465.4(BARD1):c.733_734insTGGAT (p.Gln245fs)
NM_000465.4(BARD1):c.737dup (p.Ser247fs)
NM_000465.4(BARD1):c.741_750del (p.Ile249fs) rs1559425098
NM_000465.4(BARD1):c.745dup (p.Ile249fs) rs1553622487
NM_000465.4(BARD1):c.755del (p.Pro252fs) rs1553622471
NM_000465.4(BARD1):c.776del (p.Asp259fs)
NM_000465.4(BARD1):c.779T>G (p.Leu260Ter) rs1559425010
NM_000465.4(BARD1):c.780dup (p.Leu261fs) rs2106110487
NM_000465.4(BARD1):c.782dup (p.Ala262fs)
NM_000465.4(BARD1):c.79G>T (p.Glu27Ter) rs587780037
NM_000465.4(BARD1):c.802G>T (p.Glu268Ter)
NM_000465.4(BARD1):c.808G>T (p.Glu270Ter) rs1060501288
NM_000465.4(BARD1):c.810del (p.Glu270fs)
NM_000465.4(BARD1):c.824T>A (p.Leu275Ter) rs765629130
NM_000465.4(BARD1):c.824dup (p.Leu275fs)
NM_000465.4(BARD1):c.838_839del (p.Leu280fs) rs876659752
NM_000465.4(BARD1):c.83del (p.Pro28fs) rs2106171367
NM_000465.4(BARD1):c.853dup (p.Gln285fs)
NM_000465.4(BARD1):c.856del (p.Gln285_Ile286insTer) rs2106110129
NM_000465.4(BARD1):c.858dup (p.Glu287fs) rs1553622397
NM_000465.4(BARD1):c.860_861del (p.Glu287fs) rs786201868
NM_000465.4(BARD1):c.862_863insGG (p.Ser288fs)
NM_000465.4(BARD1):c.873dup (p.Lys292Ter) rs1553622378
NM_000465.4(BARD1):c.884_888del (p.Asn295fs)
NM_000465.4(BARD1):c.891_895del (p.Val298fs) rs1574818696
NM_000465.4(BARD1):c.925dup (p.Thr309fs) rs2106109750
NM_000465.4(BARD1):c.92dup (p.Gly32fs)
NM_000465.4(BARD1):c.934A>T (p.Lys312Ter) rs1060501291
NM_000465.4(BARD1):c.947T>G (p.Leu316Ter) rs587781728
NM_000465.4(BARD1):c.947del (p.Pro315_Leu316insTer)
NM_000465.4(BARD1):c.950_957delinsG (p.Glu317fs)
NM_000465.4(BARD1):c.961A>T (p.Lys321Ter)
NM_000465.4(BARD1):c.966_967dup (p.Gly323fs)
NM_000465.4(BARD1):c.974_986del (p.His325fs)
NM_000465.4(BARD1):c.975_976del (p.His325fs)
NM_000465.4(BARD1):c.979A>T (p.Arg327Ter) rs1559424358
NM_000465.4(BARD1):c.985del (p.Ser329fs)
NM_000465.4(BARD1):c.998_999del (p.Ile332_Ser333insTer) rs1482641121
NM_000465.4(BARD1):c.99del (p.Trp34fs) rs2106171232
NM_000535.7(PMS2):c.1119_1122del (p.Gln374fs) rs757679199
NM_000535.7(PMS2):c.2276-1_2445+2del rs2128671526
NM_000535.7(PMS2):c.23+1G>A rs587782074
NM_000535.7(PMS2):c.2445+1G>C rs876661113
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.1118del (p.Lys373fs) rs2150988776
NM_000546.6(TP53):c.124_132del (p.Asp42_Met44del) rs2151043202
NM_000546.6(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.6(TP53):c.390_426del (p.Asn131fs) rs1597371154
NM_000546.6(TP53):c.400T>G (p.Phe134Val) rs267605077
NM_000546.6(TP53):c.416_420dup (p.Cys141fs) rs1555526250
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) rs730882001
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.574C>T (p.Gln192Ter) rs866380588
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.672+1G>T rs863224499
NM_000546.6(TP53):c.708C>G (p.Tyr236Ter) rs1597365202
NM_000546.6(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.839_842dup (p.Asp281fs)
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.848_849del (p.Arg283fs) rs2073188904
NM_000546.6(TP53):c.851_855del (p.Thr284fs) rs2073187136
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000586.4(IL2):c.134del (p.Ile44_Leu45insTer)
NM_000586.4(IL2):c.433del (p.Cys145fs)
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.378+1G>T rs1645259682
NM_001330368.2(C11orf65):c.640+16147_640+22966del
NM_001349956.2(CHEK2):c.444+119del
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_001407299.1(PALB2):c.3113+7271del rs1597073423
NM_001407314.1(PALB2):c.49-1193del rs1597091518
NM_001826.3(CKS1B):c.33del (p.Lys11fs)
NM_001826.3(CKS1B):c.51del (p.Phe17fs)
NM_002185.5(IL7R):c.470del (p.Lys157fs)
NM_002228.4(JUN):c.659del (p.Pro220fs)
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
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.966C>G (p.Tyr322Ter) rs748453607
NM_002555.6(SLC22A18):c.864_865ins[NC_000011.10:g.2919738_2919848]
NM_002840.5(PTPRF):c.1847_1848del (p.Val616fs) rs1131692054
NM_002875.5(RAD51):c.760C>T (p.Arg254Ter) rs199925463
NM_002878.4(RAD51D):c.480+1G>A rs1597862471
NM_002878.4(RAD51D):c.738+402_*1465del
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
NM_002878.4(RAD51D):c.790_796dup (p.Arg266fs) rs2142411968
NM_003620.4(PPM1D):c.1204_1208del (p.Asn402fs)
NM_003620.4(PPM1D):c.1267G>T (p.Glu423Ter) rs1057524700
NM_003620.4(PPM1D):c.1535del (p.Asn512fs) rs763475304
NM_004168.3:g.(?_218403)_(256583_?)del
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs) rs786201045
NM_004360.5(CDH1):c.1062del (p.Gly354_Leu355insTer)
NM_004360.5(CDH1):c.1107del (p.Asn369fs) rs1567507138
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) rs587782798
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs) rs886039612
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs) rs876658261
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004360.5(CDH1):c.1565+1G>T rs587780113
NM_004360.5(CDH1):c.1565+2dup rs1555516200
NM_004360.5(CDH1):c.1590dup (p.Asn531fs) rs1555516535
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg) rs746481984
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser) rs786202290
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter) rs121964877
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val) rs121964878
NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer) rs730881653
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.2137_2146dup (p.Gly716fs) rs2152139643
NM_004360.5(CDH1):c.2165-1G>C rs1385720097
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter) rs876658932
NM_004360.5(CDH1):c.2275G>T (p.Gly759Ter)
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter) rs587780787
NM_004360.5(CDH1):c.2386dup (p.Arg796fs) rs1375617541
NM_004360.5(CDH1):c.2430del (p.Phe810fs) rs786203752
NM_004360.5(CDH1):c.2440-2_*1del rs2152143824
NM_004360.5(CDH1):c.2T>C (p.Met1Thr) rs1555509623
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_004360.5(CDH1):c.385C>T (p.Gln129Ter)
NM_004360.5(CDH1):c.49-2A>G rs1060501226
NM_004360.5(CDH1):c.521dup (p.Asn174fs) rs587781290
NM_004360.5(CDH1):c.583C>T (p.Gln195Ter) rs1960737851
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter) rs121964873
NM_004360.5(CDH1):c.832+1G>A rs878854697
NM_004360.5(CDH1):c.833-2A>G rs1555515596
NM_004360.5(CDH1):c.940A>T (p.Lys314Ter) rs1131690820
NM_004448.4(ERBB2):c.2264_2278del (p.Leu755_Thr759del) rs1131692241
NM_004448.4(ERBB2):c.2305G>C (p.Asp769His) rs121913468
NM_004448.4(ERBB2):c.2305G>T (p.Asp769Tyr) rs121913468
NM_004448.4(ERBB2):c.2329G>T (p.Val777Leu) rs121913471
NM_004448.4(ERBB2):c.2333_2334insGCTCCCCAG (p.Gly778_Ser779insLeuProSer) rs1057519737
NM_004448.4(ERBB2):c.2524G>A (p.Val842Ile) rs1057519738
NM_004667.6(HERC2):c.2263_2277del (p.Leu755_Asp759del) rs1555444543
NM_004667.6(HERC2):c.2264T>C (p.Leu755Ser) rs1057519727
NM_004667.6(HERC2):c.926C>G (p.Ala309Gly) rs752908306
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005732.4(RAD50):c.326_329del (p.Thr109fs) rs587780155
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter) rs1561635887
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) rs121913284
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1634A>T (p.Glu545Val) rs121913274
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) rs121913286
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu) rs397517201
NM_006218.4(PIK3CA):c.1645G>A (p.Asp549Asn) rs1057519699
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_007194.3(CHEK2):c.909-?_1095+?del
NM_007194.3(CHEK2):c.909delG rs1057517596
NM_007194.4(CHEK2):c.1006C>T (p.Gln336Ter) rs2145841361
NM_007194.4(CHEK2):c.1007del (p.Gln336fs) rs1569120831
NM_007194.4(CHEK2):c.1009-100_1095+3del rs2145815434
NM_007194.4(CHEK2):c.1009-1264C>G
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter) rs1231012263
NM_007194.4(CHEK2):c.100_101del (p.Gln34fs) rs2054330803
NM_007194.4(CHEK2):c.1014_1036dup (p.Arg346fs) rs2145817523
NM_007194.4(CHEK2):c.1018G>T (p.Glu340Ter)
NM_007194.4(CHEK2):c.1019_1034del (p.Glu340fs) rs1601727263
NM_007194.4(CHEK2):c.1022del (p.Asn341fs) rs1569116316
NM_007194.4(CHEK2):c.1030del (p.Ile344fs) rs2145817725
NM_007194.4(CHEK2):c.1036del (p.Arg346fs)
NM_007194.4(CHEK2):c.1039_1043del (p.Asp347fs)
NM_007194.4(CHEK2):c.1041del (p.Asp347_Leu348insTer)
NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter) rs878854908
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs) rs2145817185
NM_007194.4(CHEK2):c.1048_1049insA (p.Pro350fs)
NM_007194.4(CHEK2):c.1049del (p.Pro350fs) rs1601727022
NM_007194.4(CHEK2):c.1049dup (p.Glu351fs)
NM_007194.4(CHEK2):c.1050del (p.Glu351fs) rs2052610542
NM_007194.4(CHEK2):c.1052del (p.Glu351fs)
NM_007194.4(CHEK2):c.1061T>A (p.Leu354Ter) rs2145816590
NM_007194.4(CHEK2):c.1063del (p.Leu355fs) rs1555914279
NM_007194.4(CHEK2):c.1065del (p.Ser356fs)
NM_007194.4(CHEK2):c.1067C>G (p.Ser356Ter) rs121908703
NM_007194.4(CHEK2):c.1067_1077del (p.Leu355_Ser356insTer) rs2145816053
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter) rs2146151890
NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter) rs878854909
NM_007194.4(CHEK2):c.1075G>T (p.Glu359Ter)
NM_007194.4(CHEK2):c.1075del (p.Glu359fs)
NM_007194.4(CHEK2):c.1077del (p.Glu360fs) rs2145816035
NM_007194.4(CHEK2):c.107del (p.Gln36fs)
NM_007194.4(CHEK2):c.1085del (p.Cys362fs)
NM_007194.4(CHEK2):c.1089_1092del (p.Ile364fs) rs1064793566
NM_007194.4(CHEK2):c.1093_1094dup (p.Ile366fs) rs2145815556
NM_007194.4(CHEK2):c.1096del (p.Ile366fs) rs1555913941
NM_007194.4(CHEK2):c.1098_1108dup (p.Gly370fs) rs2145806928
NM_007194.4(CHEK2):c.109_119del (p.Gly37fs) rs1555932583
NM_007194.4(CHEK2):c.1111_1127del (p.His371fs)
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs) rs2052563898
NM_007194.4(CHEK2):c.1116del (p.Lys373fs) rs1555913894
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs) rs1555913894
NM_007194.4(CHEK2):c.1118dup (p.Ile374fs) rs2052564279
NM_007194.4(CHEK2):c.1123_1124del (p.Leu375fs) rs2145806264
NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)
NM_007194.4(CHEK2):c.1127del (p.Gly376fs)
NM_007194.4(CHEK2):c.1128del (p.Glu377fs) rs1555913881
NM_007194.4(CHEK2):c.1131_1132del (p.Glu377fs)
NM_007194.4(CHEK2):c.1133_1142del (p.Thr378fs) rs1601723175
NM_007194.4(CHEK2):c.1134del (p.Ser379fs) rs1569114113
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs) rs1060502684
NM_007194.4(CHEK2):c.1142_1143insA (p.Met381fs) rs1064794965
NM_007194.4(CHEK2):c.1155T>A (p.Cys385Ter) rs2145805017
NM_007194.4(CHEK2):c.1159_1160delinsG (p.Thr387fs)
NM_007194.4(CHEK2):c.1163_1164dup (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1164del (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1164dup (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1167dup (p.Tyr390fs)
NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter) rs886039631
NM_007194.4(CHEK2):c.1170del (p.Leu391fs) rs2145804427
NM_007194.4(CHEK2):c.117_132del (p.Ser40fs)
NM_007194.4(CHEK2):c.1180G>T (p.Glu394Ter) rs587780169
NM_007194.4(CHEK2):c.1188_1194dup (p.Val399fs) rs1569113653
NM_007194.4(CHEK2):c.1188del (p.Val397fs) rs753159426
NM_007194.4(CHEK2):c.118_133del (p.Ser40fs) rs1569171106
NM_007194.4(CHEK2):c.1192dup (p.Ser398fs)
NM_007194.4(CHEK2):c.1193_1197del (p.Ser398fs)
NM_007194.4(CHEK2):c.1193del (p.Ser398fs) rs2052556835
NM_007194.4(CHEK2):c.1197del (p.Thr401fs) rs876658302
NM_007194.4(CHEK2):c.1197dup (p.Gly400fs) rs876658302
NM_007194.4(CHEK2):c.1201_1205del (p.Thr401fs) rs2145803112
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs) rs1555913672
NM_007194.4(CHEK2):c.1209_1233dup (p.Ser412delinsValTer) rs1555913672
NM_007194.4(CHEK2):c.1210_1211insTT (p.Tyr404fs) rs2052554226
NM_007194.4(CHEK2):c.1210_1216dup (p.Arg406delinsLeuTer)
NM_007194.4(CHEK2):c.1210_1219del (p.Tyr404fs) rs2052553224
NM_007194.4(CHEK2):c.1210del (p.Tyr404fs)
NM_007194.4(CHEK2):c.1210dup (p.Tyr404fs)
NM_007194.4(CHEK2):c.1212T>A (p.Tyr404Ter) rs587781836
NM_007194.4(CHEK2):c.1222_1237del (p.Ala407_Val408insTer) rs786203031
NM_007194.4(CHEK2):c.1230C>A (p.Cys410Ter) rs773380144
NM_007194.4(CHEK2):c.1233G>A (p.Trp411Ter) rs1064796572
NM_007194.4(CHEK2):c.1238T>A (p.Leu413Ter)
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter) rs1248967885
NM_007194.4(CHEK2):c.1238_1246delinsAGGAG (p.Leu413_Ile416delinsTer) rs1555913645
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer) rs765664259
NM_007194.4(CHEK2):c.123del (p.Ser42fs)
NM_007194.4(CHEK2):c.1240G>T (p.Gly414Ter) rs878854913
NM_007194.4(CHEK2):c.1246del (p.Ile416fs) rs2145801378
NM_007194.4(CHEK2):c.1246dup (p.Ile416fs) rs2145801350
NM_007194.4(CHEK2):c.1248del (p.Leu417fs) rs2145801216
NM_007194.4(CHEK2):c.1250_1258delinsATCTTTTATCG (p.Leu417fs)
NM_007194.4(CHEK2):c.1253_1254insA (p.Phe418fs)
NM_007194.4(CHEK2):c.1254_1255insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGAGTTATTCTTTTT (p.Ile419delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer)
NM_007194.4(CHEK2):c.1254del (p.Phe418fs) rs587780173
NM_007194.4(CHEK2):c.1258del (p.Cys420fs)
NM_007194.4(CHEK2):c.1259+1G>C rs121908707
NM_007194.4(CHEK2):c.125del (p.Ser42fs)
NM_007194.4(CHEK2):c.1260C>A (p.Cys420Ter)
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1264dup (p.Ser422fs) rs2145796040
NM_007194.4(CHEK2):c.1265del (p.Ser422fs)
NM_007194.4(CHEK2):c.126_127insTG (p.Thr43Ter)
NM_007194.4(CHEK2):c.1271del (p.Tyr424fs)
NM_007194.4(CHEK2):c.1271dup (p.Tyr424Ter)
NM_007194.4(CHEK2):c.1272T>A (p.Tyr424Ter)
NM_007194.4(CHEK2):c.1272T>G (p.Tyr424Ter)
NM_007194.4(CHEK2):c.1274dup (p.Pro426fs)
NM_007194.4(CHEK2):c.1275del (p.Pro426fs)
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs) rs1569112324
NM_007194.4(CHEK2):c.1281_1284del (p.Phe427fs)
NM_007194.4(CHEK2):c.1290_1292delinsGTGACTCAAGTGTCACTTCAGT (p.His430_Arg431delinsGlnTer)
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter) rs771772104
NM_007194.4(CHEK2):c.1293del (p.Thr432fs)
NM_007194.4(CHEK2):c.1297C>T (p.Gln433Ter) rs1555913494
NM_007194.4(CHEK2):c.1298_1299del (p.Gln433fs) rs1555913493
NM_007194.4(CHEK2):c.129del (p.Ser44fs)
NM_007194.4(CHEK2):c.1304C>A (p.Ser435Ter)
NM_007194.4(CHEK2):c.1306del (p.Ser435_Leu436insTer) rs2145794764
NM_007194.4(CHEK2):c.1312dup (p.Asp438fs)
NM_007194.4(CHEK2):c.1314del (p.Gln439fs) rs2145794535
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) rs778989252
NM_007194.4(CHEK2):c.1318del (p.Ile440fs)
NM_007194.4(CHEK2):c.1321del (p.Thr441fs)
NM_007194.4(CHEK2):c.1323del (p.Ser442fs) rs1555913464
NM_007194.4(CHEK2):c.1324del (p.Ser442fs) rs2145794195
NM_007194.4(CHEK2):c.1327G>T (p.Gly443Ter)
NM_007194.4(CHEK2):c.1332del (p.Lys444fs) rs2145794013
NM_007194.4(CHEK2):c.1334dup (p.Tyr445Ter) rs1214213337
NM_007194.4(CHEK2):c.1335C>A (p.Tyr445Ter) rs1601719469
NM_007194.4(CHEK2):c.1335C>G (p.Tyr445Ter)
NM_007194.4(CHEK2):c.1335_1336del (p.Tyr445_Asn446delinsTer)
NM_007194.4(CHEK2):c.1335_1336delinsAC (p.Tyr445_Asn446delinsTer) rs1601719449
NM_007194.4(CHEK2):c.1335_1342del (p.Asn446fs)
NM_007194.4(CHEK2):c.1335del (p.Lys444_Tyr445insTer)
NM_007194.4(CHEK2):c.1337del (p.Asn446fs) rs876659639
NM_007194.4(CHEK2):c.133del (p.Thr45fs) rs1555932518
NM_007194.4(CHEK2):c.1341del (p.Phe447fs) rs2145793726
NM_007194.4(CHEK2):c.1343_1344del (p.Ile448fs) rs2145793644
NM_007194.4(CHEK2):c.1344del (p.Pro449fs) rs1601719328
NM_007194.4(CHEK2):c.1347del (p.Glu450fs) rs1601719287
NM_007194.4(CHEK2):c.1348G>T (p.Glu450Ter) rs1555913429
NM_007194.4(CHEK2):c.1348del (p.Glu450fs)
NM_007194.4(CHEK2):c.1350del (p.Val451fs)
NM_007194.4(CHEK2):c.1355G>A (p.Trp452Ter) rs1601719186
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter) rs730881702
NM_007194.4(CHEK2):c.1360_1361del (p.Glu454fs) rs2052514918
NM_007194.4(CHEK2):c.1360_1361insCA (p.Glu454fs) rs2145793110
NM_007194.4(CHEK2):c.1362del (p.Val455fs) rs2145793028
NM_007194.4(CHEK2):c.1364dup (p.Ser456fs) rs2145792978
NM_007194.4(CHEK2):c.1367C>A (p.Ser456Ter)
NM_007194.4(CHEK2):c.1367C>G (p.Ser456Ter) rs876659827
NM_007194.4(CHEK2):c.1369G>T (p.Glu457Ter)
NM_007194.4(CHEK2):c.1371_1372del (p.Lys458fs) rs2052513579
NM_007194.4(CHEK2):c.1374_1375inv (p.Lys458_Ala459delinsAsnSer)
NM_007194.4(CHEK2):c.1374del (p.Ala459fs)
NM_007194.4(CHEK2):c.1378del (p.Leu460fs)
NM_007194.4(CHEK2):c.1379del (p.Leu460fs) rs2145786618
NM_007194.4(CHEK2):c.1393A>T (p.Lys465Ter)
NM_007194.4(CHEK2):c.1398del (p.Leu466fs)
NM_007194.4(CHEK2):c.1400T>A (p.Leu467Ter) rs1555913161
NM_007194.4(CHEK2):c.1400del (p.Leu467fs) rs2052472184
NM_007194.4(CHEK2):c.1415del (p.Lys472fs)
NM_007194.4(CHEK2):c.1420del (p.Arg474fs) rs2145785415
NM_007194.4(CHEK2):c.1430del (p.Thr477fs) rs2052468526
NM_007194.4(CHEK2):c.1432G>T (p.Glu478Ter) rs2145784977
NM_007194.4(CHEK2):c.1434del (p.Glu479fs) rs786202601
NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter) rs1555913106
NM_007194.4(CHEK2):c.1437_1446del (p.Glu479fs)
NM_007194.4(CHEK2):c.1442T>G (p.Leu481Ter)
NM_007194.4(CHEK2):c.1442_1443del (p.Ala480_Leu481insTer)
NM_007194.4(CHEK2):c.1442del (p.Ala480_Leu481insTer)
NM_007194.4(CHEK2):c.1443_1444del (p.Arg482fs) rs1555913094
NM_007194.4(CHEK2):c.1443_1458dup (p.Gln487fs)
NM_007194.4(CHEK2):c.1444A>T (p.Arg482Ter)
NM_007194.4(CHEK2):c.1448dup (p.His483fs)
NM_007194.4(CHEK2):c.1451del (p.Pro484fs) rs1555913078
NM_007194.4(CHEK2):c.1452del (p.Trp485fs) rs2145784297
NM_007194.4(CHEK2):c.1454G>A (p.Trp485Ter) rs1199577809
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter) rs1601715852
NM_007194.4(CHEK2):c.1455del (p.Trp485fs)
NM_007194.4(CHEK2):c.1455dup (p.Leu486fs) rs1601715865
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter) rs1420382294
NM_007194.4(CHEK2):c.1481del (p.Lys494fs) rs2052247122
NM_007194.4(CHEK2):c.1485del (p.Gln496fs)
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) rs1555912044
NM_007194.4(CHEK2):c.1492del (p.Leu498fs) rs2052245881
NM_007194.4(CHEK2):c.1495del (p.Leu499fs)
NM_007194.4(CHEK2):c.1498_1501del (p.Ser500fs)
NM_007194.4(CHEK2):c.149del (p.Ser50fs)
NM_007194.4(CHEK2):c.14C>A (p.Ser5Ter)
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs) rs757016287
NM_007194.4(CHEK2):c.1500_1501delinsAT (p.Glu501Ter)
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) rs1131691045
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs) rs587782707
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter) rs587782489
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter) rs587781592
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs) rs1555912001
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter) rs886039512
NM_007194.4(CHEK2):c.152_155dup (p.Ser53fs) rs1555932481
NM_007194.4(CHEK2):c.152del (p.Gln51fs)
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
NM_007194.4(CHEK2):c.1542+1G>A
NM_007194.4(CHEK2):c.1543-9_1546del rs1555911638
NM_007194.4(CHEK2):c.154del (p.Ser52fs)
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.159_160del (p.His54fs) rs2054324732
NM_007194.4(CHEK2):c.161_164del (p.His54fs) rs1569170839
NM_007194.4(CHEK2):c.16del (p.Asp6fs) rs2146156838
NM_007194.4(CHEK2):c.174del (p.Thr59fs)
NM_007194.4(CHEK2):c.179_180del (p.Leu60fs)
NM_007194.4(CHEK2):c.179dup (p.Ser61fs)
NM_007194.4(CHEK2):c.17_18insGGGA (p.Asp6fs)
NM_007194.4(CHEK2):c.181del (p.Ser61fs) rs1601852451
NM_007194.4(CHEK2):c.183del (p.Ser62fs) rs2054322279
NM_007194.4(CHEK2):c.186del (p.Ser62_Leu63insTer) rs2054322016
NM_007194.4(CHEK2):c.188del (p.Ser62_Leu63insTer) rs2146148231
NM_007194.4(CHEK2):c.194_195del (p.Thr65fs) rs2054321037
NM_007194.4(CHEK2):c.199del (p.Ser67fs) rs2054320626
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) rs768384031
NM_007194.4(CHEK2):c.206_207del (p.Gln69fs)
NM_007194.4(CHEK2):c.208G>T (p.Glu70Ter) rs878854917
NM_007194.4(CHEK2):c.209_216del (p.Glu70fs) rs2054319272
NM_007194.4(CHEK2):c.214_223del (p.Tyr72fs)
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) rs587781705
NM_007194.4(CHEK2):c.219_223del (p.Ser73_Ile74insTer) rs766416564
NM_007194.4(CHEK2):c.222del (p.Pro75fs) rs2146147030
NM_007194.4(CHEK2):c.22G>T (p.Glu8Ter)
NM_007194.4(CHEK2):c.233_234del (p.Gln78fs) rs2146146624
NM_007194.4(CHEK2):c.234_262del (p.Gln78fs) rs2054316045
NM_007194.4(CHEK2):c.235G>T (p.Glu79Ter)
NM_007194.4(CHEK2):c.241G>T (p.Glu81Ter)
NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter) rs1555932326
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.250G>T (p.Glu84Ter)
NM_007194.4(CHEK2):c.252del (p.Glu84fs) rs1601851875
NM_007194.4(CHEK2):c.254del (p.Pro85fs)
NM_007194.4(CHEK2):c.263del (p.Pro88fs)
NM_007194.4(CHEK2):c.264dup (p.Thr89fs)
NM_007194.4(CHEK2):c.267_268insT (p.Pro90fs) rs2054315696
NM_007194.4(CHEK2):c.269del (p.Pro90fs) rs1555932231
NM_007194.4(CHEK2):c.269dup (p.Ala91fs) rs1555932231
NM_007194.4(CHEK2):c.270dup (p.Ala91fs)
NM_007194.4(CHEK2):c.271_272dup (p.Trp93fs)
NM_007194.4(CHEK2):c.271del (p.Ala91fs)
NM_007194.4(CHEK2):c.275_287delinsTCAGG (p.Pro92fs)
NM_007194.4(CHEK2):c.276del (p.Trp93fs) rs876661156
NM_007194.4(CHEK2):c.276dup (p.Trp93fs) rs876661156
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.278G>A (p.Trp93Ter) rs786203889
NM_007194.4(CHEK2):c.282del (p.Arg95fs) rs1064795959
NM_007194.4(CHEK2):c.287T>G (p.Leu96Ter)
NM_007194.4(CHEK2):c.288_289dup (p.Trp97fs)
NM_007194.4(CHEK2):c.290G>A (p.Trp97Ter)
NM_007194.4(CHEK2):c.291G>A (p.Trp97Ter) rs2054312626
NM_007194.4(CHEK2):c.292del (p.Ala98fs) rs1555932116
NM_007194.4(CHEK2):c.295del (p.Leu99fs) rs1601851248
NM_007194.4(CHEK2):c.298C>T (p.Gln100Ter) rs2054311767
NM_007194.4(CHEK2):c.299del (p.Gln100fs)
NM_007194.4(CHEK2):c.304G>T (p.Gly102Ter) rs876659833
NM_007194.4(CHEK2):c.305del (p.Gly102fs) rs2054311111
NM_007194.4(CHEK2):c.309_318dup (p.Glu107delinsCysGlnSerTer)
NM_007194.4(CHEK2):c.315del (p.Glu107fs)
NM_007194.4(CHEK2):c.318del (p.Glu107fs)
NM_007194.4(CHEK2):c.319G>T (p.Glu107Ter)
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter) rs1349961118
NM_007194.4(CHEK2):c.31dup (p.Gln11fs) rs1555932913
NM_007194.4(CHEK2):c.320-1G>T rs864622613
NM_007194.4(CHEK2):c.320-3970_454del
NM_007194.4(CHEK2):c.320-3970_455del
NM_007194.4(CHEK2):c.321_324del (p.Glu107_Cys108insTer) rs2053967484
NM_007194.4(CHEK2):c.324T>A (p.Cys108Ter)
NM_007194.4(CHEK2):c.326_327del (p.Val109fs) rs1555927398
NM_007194.4(CHEK2):c.32_35del (p.Gln11fs) rs2146155758
NM_007194.4(CHEK2):c.335_341del (p.Asn112fs)
NM_007194.4(CHEK2):c.335_342delinsCACATTCACACA (p.Asn112fs)
NM_007194.4(CHEK2):c.338_358delinsG (p.Tyr113fs) rs2053964098
NM_007194.4(CHEK2):c.339C>A (p.Tyr113Ter)
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter) rs905674348
NM_007194.4(CHEK2):c.339del (p.Trp114fs)
NM_007194.4(CHEK2):c.33del (p.Gln11fs) rs2146155911
NM_007194.4(CHEK2):c.341G>A (p.Trp114Ter) rs1555927374
NM_007194.4(CHEK2):c.349del (p.Arg117fs) rs2146071079
NM_007194.4(CHEK2):c.353del (p.Asp118fs)
NM_007194.4(CHEK2):c.354del (p.Asp118fs)
NM_007194.4(CHEK2):c.359del (p.Ser120fs) rs2146070648
NM_007194.4(CHEK2):c.360del (p.Cys121fs) rs1601825829
NM_007194.4(CHEK2):c.361del (p.Cys121fs) rs2146070522
NM_007194.4(CHEK2):c.363T>A (p.Cys121Ter) rs1209379774
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer) rs1555927312
NM_007194.4(CHEK2):c.364del (p.Glu122fs) rs786203355
NM_007194.4(CHEK2):c.366del (p.Glu122fs) rs1555927302
NM_007194.4(CHEK2):c.372del (p.Phe125fs) rs876661050
NM_007194.4(CHEK2):c.375del (p.Phe125fs)
NM_007194.4(CHEK2):c.383del (p.Pro128fs) rs1569158776
NM_007194.4(CHEK2):c.391A>T (p.Lys131Ter) rs1275395933
NM_007194.4(CHEK2):c.393_397del (p.Lys131fs)
NM_007194.4(CHEK2):c.394del (p.Arg132fs)
NM_007194.4(CHEK2):c.397del (p.Thr133fs) rs2053960596
NM_007194.4(CHEK2):c.397dup (p.Thr133fs)
NM_007194.4(CHEK2):c.400_401del (p.Thr133_Asp134insTer) rs1569158640
NM_007194.4(CHEK2):c.400_403del (p.Asp134fs) rs2146068388
NM_007194.4(CHEK2):c.402delinsAA (p.Asp134fs)
NM_007194.4(CHEK2):c.405del (p.Lys135fs) rs730881699
NM_007194.4(CHEK2):c.408C>A (p.Tyr136Ter) rs911826883
NM_007194.4(CHEK2):c.408C>G (p.Tyr136Ter) rs911826883
NM_007194.4(CHEK2):c.409_427del (p.Arg137fs)
NM_007194.4(CHEK2):c.415dup (p.Tyr139fs)
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.417C>G (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.417_418dup (p.Ser140fs)
NM_007194.4(CHEK2):c.417del (p.Thr138_Tyr139insTer)
NM_007194.4(CHEK2):c.41del (p.Gly14fs) rs2146155398
NM_007194.4(CHEK2):c.420_421del (p.Ser140fs)
NM_007194.4(CHEK2):c.426dup (p.His143fs)
NM_007194.4(CHEK2):c.427_429delinsA (p.His143fs)
NM_007194.4(CHEK2):c.432del (p.Arg145fs) rs1555927148
NM_007194.4(CHEK2):c.432dup (p.Arg145fs) rs1555927148
NM_007194.4(CHEK2):c.433del (p.Arg145fs) rs1555927137
NM_007194.4(CHEK2):c.440del (p.Phe147fs)
NM_007194.4(CHEK2):c.444+1G>T rs121908698
NM_007194.4(CHEK2):c.444+1del rs1064793780
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.448_461del (p.Val150fs) rs2146061709
NM_007194.4(CHEK2):c.448del (p.Val150fs) rs1555927038
NM_007194.4(CHEK2):c.449del (p.Val150fs) rs1601824270
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs) rs1555926975
NM_007194.4(CHEK2):c.452del (p.Gly151fs) rs2053949167
NM_007194.4(CHEK2):c.456del (p.Asn154fs)
NM_007194.4(CHEK2):c.460_488dup (p.His163delinsGlnThrLeuThrLeuHisThrTer) rs2146060468
NM_007194.4(CHEK2):c.461del (p.Asn154fs)
NM_007194.4(CHEK2):c.461dup (p.Asn154fs)
NM_007194.4(CHEK2):c.464_465del (p.Ser155fs)
NM_007194.4(CHEK2):c.467dup (p.Tyr156Ter) rs2053947943
NM_007194.4(CHEK2):c.468C>A (p.Tyr156Ter) rs1555926996
NM_007194.4(CHEK2):c.468C>G (p.Tyr156Ter) rs1555926996
NM_007194.4(CHEK2):c.469del (p.Ile157fs) rs2146061284
NM_007194.4(CHEK2):c.46_61del (p.Ser16fs) rs2146154211
NM_007194.4(CHEK2):c.46dup (p.Ser16fs)
NM_007194.4(CHEK2):c.471del (p.Ile157fs) rs2146061160
NM_007194.4(CHEK2):c.472del (p.Ala158fs)
NM_007194.4(CHEK2):c.473_474delinsAAGTACTCT (p.Ala158fs)
NM_007194.4(CHEK2):c.477_478dup (p.Ile160fs)
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer) rs1225437533
NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs) rs864622453
NM_007194.4(CHEK2):c.494del (p.Gly165fs) rs1569157733
NM_007194.4(CHEK2):c.495_496insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn166fs) rs2146060162
NM_007194.4(CHEK2):c.502del (p.Thr168fs) rs2146059921
NM_007194.4(CHEK2):c.504del (p.Phe169fs) rs2146059828
NM_007194.4(CHEK2):c.507del (p.Phe169fs) rs587780183
NM_007194.4(CHEK2):c.509_514delinsG (p.Val170fs)
NM_007194.4(CHEK2):c.50_53dup (p.Ser19fs)
NM_007194.4(CHEK2):c.512del (p.Asn171fs)
NM_007194.4(CHEK2):c.514dup (p.Thr172fs) rs1601823546
NM_007194.4(CHEK2):c.516_519del (p.Glu173fs)
NM_007194.4(CHEK2):c.518_519del (p.Glu173fs)
NM_007194.4(CHEK2):c.523del (p.Leu174_Val175insTer)
NM_007194.4(CHEK2):c.524dup (p.Gly176fs) rs587780184
NM_007194.4(CHEK2):c.526_530del (p.Gly176fs)
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter) rs796389290
NM_007194.4(CHEK2):c.531del (p.Gly178fs)
NM_007194.4(CHEK2):c.533del (p.Gly178fs)
NM_007194.4(CHEK2):c.537del (p.Lys179fs) rs2053940893
NM_007194.4(CHEK2):c.538del (p.Arg180fs)
NM_007194.4(CHEK2):c.543_549del (p.Pro182fs) rs2053939874
NM_007194.4(CHEK2):c.545dup (p.Leu183fs) rs2146058345
NM_007194.4(CHEK2):c.547_548del (p.Leu183fs) rs2146058204
NM_007194.4(CHEK2):c.548T>A (p.Leu183Ter)
NM_007194.4(CHEK2):c.548del (p.Pro182_Leu183insTer) rs2146058204
NM_007194.4(CHEK2):c.555_585del (p.Asn185fs)
NM_007194.4(CHEK2):c.555del (p.Asn185fs)
NM_007194.4(CHEK2):c.557del (p.Asn186fs) rs2146057730
NM_007194.4(CHEK2):c.55del (p.Ser19fs) rs2146154644
NM_007194.4(CHEK2):c.561del (p.Glu188fs)
NM_007194.4(CHEK2):c.568_569delinsTG (p.Ala190Ter)
NM_007194.4(CHEK2):c.56C>G (p.Ser19Ter) rs1555932877
NM_007194.4(CHEK2):c.56dup (p.Gln20fs)
NM_007194.4(CHEK2):c.571del (p.Leu191fs)
NM_007194.4(CHEK2):c.573del (p.Ser192fs)
NM_007194.4(CHEK2):c.575C>A (p.Ser192Ter) rs899211928
NM_007194.4(CHEK2):c.575C>G (p.Ser192Ter)
NM_007194.4(CHEK2):c.580dup (p.Ser194fs)
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.597del (p.Phe199fs) rs1250779080
NM_007194.4(CHEK2):c.599T>C (p.Val200Ala) rs2053696720
NM_007194.4(CHEK2):c.600del (p.Phe202fs) rs1555924538
NM_007194.4(CHEK2):c.605_606del (p.Phe201_Phe202insTer) rs886039609
NM_007194.4(CHEK2):c.606_607insSVAelement
NM_007194.4(CHEK2):c.606del (p.Phe202fs) rs886039609
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter) rs886039609
NM_007194.4(CHEK2):c.607del (p.Asp203fs)
NM_007194.4(CHEK2):c.614_615del (p.Thr205fs)
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007194.4(CHEK2):c.621del (p.Asp207fs) rs1569150017
NM_007194.4(CHEK2):c.623_626del (p.Asp208fs)
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter) rs1569149953
NM_007194.4(CHEK2):c.625del (p.Gln209fs)
NM_007194.4(CHEK2):c.629C>A (p.Ser210Ter)
NM_007194.4(CHEK2):c.629C>G (p.Ser210Ter) rs767253467
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs) rs756131136
NM_007194.4(CHEK2):c.636T>A (p.Tyr212Ter)
NM_007194.4(CHEK2):c.636T>G (p.Tyr212Ter) rs2053693149
NM_007194.4(CHEK2):c.644del (p.Ala215fs) rs2146006030
NM_007194.4(CHEK2):c.647T>G (p.Leu216Ter)
NM_007194.4(CHEK2):c.647dup (p.Leu216fs)
NM_007194.4(CHEK2):c.649del (p.Arg217fs)
NM_007194.4(CHEK2):c.64del (p.His22fs) rs2054335480
NM_007194.4(CHEK2):c.655G>T (p.Glu219Ter) rs1601805632
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007194.4(CHEK2):c.656_657del (p.Glu219fs)
NM_007194.4(CHEK2):c.657del (p.Glu219fs)
NM_007194.4(CHEK2):c.658dup (p.Tyr220fs) rs2146005603
NM_007194.4(CHEK2):c.659_662del (p.Tyr220fs) rs2053691104
NM_007194.4(CHEK2):c.660C>G (p.Tyr220Ter)
NM_007194.4(CHEK2):c.663_664insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met222fs) rs2146005334
NM_007194.4(CHEK2):c.663del (p.Met222fs)
NM_007194.4(CHEK2):c.664_676del (p.Met222fs) rs2146004773
NM_007194.4(CHEK2):c.664del (p.Met222fs) rs2146005256
NM_007194.4(CHEK2):c.668C>G (p.Ser223Ter)
NM_007194.4(CHEK2):c.668_669insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser223_Lys224insTer) rs2146005039
NM_007194.4(CHEK2):c.669_679del (p.Thr225fs)
NM_007194.4(CHEK2):c.673del (p.Thr225fs) rs1342011335
NM_007194.4(CHEK2):c.673dup (p.Thr225fs) rs1342011335
NM_007194.4(CHEK2):c.680dup (p.Ser228fs)
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.683+2T>C rs781021132
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007194.4(CHEK2):c.688del (p.Ala230fs)
NM_007194.4(CHEK2):c.696del (p.Glu233fs)
NM_007194.4(CHEK2):c.696dup (p.Glu233fs) rs1601784008
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter) rs753972711
NM_007194.4(CHEK2):c.6_10del (p.Arg3fs) rs2146157133
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)
NM_007194.4(CHEK2):c.700delinsTTTAA (p.Val234fs) rs1601783879
NM_007194.4(CHEK2):c.706del (p.Leu236fs) rs1555921290
NM_007194.4(CHEK2):c.710_718delinsGG (p.Ala237fs)
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter) rs121908702
NM_007194.4(CHEK2):c.716del (p.Glu239fs)
NM_007194.4(CHEK2):c.718del (p.Arg240fs) rs2145951649
NM_007194.4(CHEK2):c.720_736del (p.Arg240fs)
NM_007194.4(CHEK2):c.721A>T (p.Lys241Ter)
NM_007194.4(CHEK2):c.724_725insG (p.Thr242fs)
NM_007194.4(CHEK2):c.724del (p.Thr242fs) rs2145951385
NM_007194.4(CHEK2):c.725del (p.Thr242fs)
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer) rs1392940377
NM_007194.4(CHEK2):c.728_729del (p.Thr242_Cys243insTer)
NM_007194.4(CHEK2):c.729dup (p.Lys244Ter) rs2145951132
NM_007194.4(CHEK2):c.72_81del (p.Val25fs)
NM_007194.4(CHEK2):c.72dup (p.Val25fs)
NM_007194.4(CHEK2):c.731dup (p.Lys245fs)
NM_007194.4(CHEK2):c.732_733del (p.Lys245fs)
NM_007194.4(CHEK2):c.733A>T (p.Lys245Ter) rs1601783375
NM_007194.4(CHEK2):c.733_736del (p.Lys244_Lys245insTer) rs2053412352
NM_007194.4(CHEK2):c.737_782dup (p.Arg262fs) rs2145949099
NM_007194.4(CHEK2):c.739_751del (p.Ala247fs)
NM_007194.4(CHEK2):c.743del (p.Ile248fs)
NM_007194.4(CHEK2):c.743dup (p.Ile250fs) rs2145950548
NM_007194.4(CHEK2):c.746dup (p.Ile250fs)
NM_007194.4(CHEK2):c.750del (p.Ile251fs) rs2145950251
NM_007194.4(CHEK2):c.756del (p.Ser252fs)
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter) rs786201896
NM_007194.4(CHEK2):c.760del (p.Arg254fs) rs2145949827
NM_007194.4(CHEK2):c.762del (p.Lys255fs) rs1131691044
NM_007194.4(CHEK2):c.763A>T (p.Lys255Ter) rs2053408810
NM_007194.4(CHEK2):c.768dup (p.Ala257fs) rs2145949535
NM_007194.4(CHEK2):c.76dup (p.Thr26fs)
NM_007194.4(CHEK2):c.774_775del (p.Ile258fs) rs2145949378
NM_007194.4(CHEK2):c.775_778del (p.Gly259fs)
NM_007194.4(CHEK2):c.776del (p.Gly259fs) rs2053407842
NM_007194.4(CHEK2):c.776dup (p.Ser260fs) rs2053407842
NM_007194.4(CHEK2):c.777_780dup (p.Ala261fs)
NM_007194.4(CHEK2):c.779C>A (p.Ser260Ter) rs1060502710
NM_007194.4(CHEK2):c.779C>G (p.Ser260Ter)
NM_007194.4(CHEK2):c.779del (p.Gly259_Ser260insTer) rs2145949157
NM_007194.4(CHEK2):c.782del (p.Ala261fs)
NM_007194.4(CHEK2):c.783_784del (p.Glu263fs) rs1060502687
NM_007194.4(CHEK2):c.787G>T (p.Glu263Ter) rs730881686
NM_007194.4(CHEK2):c.788_789del (p.Glu263fs) rs2145948828
NM_007194.4(CHEK2):c.78_85del (p.Gln27fs) rs1601853585
NM_007194.4(CHEK2):c.793-110_846+2del rs2145932387
NM_007194.4(CHEK2):c.793-15T>G
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.793-2A>G rs1555920257
NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter) rs376736188
NM_007194.4(CHEK2):c.79del (p.Gln27fs) rs2146153237
NM_007194.4(CHEK2):c.803_804del (p.Leu268fs) rs2053336290
NM_007194.4(CHEK2):c.806_807del (p.Asn269fs) rs2053335818
NM_007194.4(CHEK2):c.808del (p.Val270fs)
NM_007194.4(CHEK2):c.815del (p.Thr272fs)
NM_007194.4(CHEK2):c.817G>T (p.Glu273Ter)
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs) rs1474786480
NM_007194.4(CHEK2):c.820dup (p.Ile274fs)
NM_007194.4(CHEK2):c.823G>T (p.Glu275Ter) rs749963436
NM_007194.4(CHEK2):c.823del (p.Glu275fs) rs769430546
NM_007194.4(CHEK2):c.826del (p.Ile276fs)
NM_007194.4(CHEK2):c.82del (p.Ser28fs) rs2146153089
NM_007194.4(CHEK2):c.830T>A (p.Leu277Ter) rs1555920150
NM_007194.4(CHEK2):c.830del (p.Ile276_Leu277insTer)
NM_007194.4(CHEK2):c.835A>T (p.Lys279Ter)
NM_007194.4(CHEK2):c.836del (p.Lys279fs) rs1555920142
NM_007194.4(CHEK2):c.842dup (p.Asn281fs) rs2053330207
NM_007194.4(CHEK2):c.846+1G>T rs864622149
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.847-1002_908+1031del
NM_007194.4(CHEK2):c.847-1G>A rs878854926
NM_007194.4(CHEK2):c.850del (p.Cys284fs)
NM_007194.4(CHEK2):c.851del (p.Cys284fs)
NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter) rs1555917031
NM_007194.4(CHEK2):c.860del (p.Lys287fs) rs886039731
NM_007194.4(CHEK2):c.865A>T (p.Lys289Ter)
NM_007194.4(CHEK2):c.869del (p.Asn290fs) rs1422634212
NM_007194.4(CHEK2):c.870_871insCTAC (p.Phe291fs) rs2052980434
NM_007194.4(CHEK2):c.870del (p.Phe292fs) rs1555916987
NM_007194.4(CHEK2):c.875_876del (p.Phe291_Phe292insTer) rs772683219
NM_007194.4(CHEK2):c.876del (p.Phe292fs) rs772683219
NM_007194.4(CHEK2):c.876dup (p.Asp293Ter) rs772683219
NM_007194.4(CHEK2):c.877del (p.Asp293fs)
NM_007194.4(CHEK2):c.879del (p.Asp293fs) rs1555916968
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del) rs771860071
NM_007194.4(CHEK2):c.891T>A (p.Tyr297Ter)
NM_007194.4(CHEK2):c.892del (p.Tyr298fs) rs2145877300
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs) rs1390889028
NM_007194.4(CHEK2):c.893dup (p.Tyr298Ter)
NM_007194.4(CHEK2):c.894T>A (p.Tyr298Ter)
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter) rs876659519
NM_007194.4(CHEK2):c.894dup (p.Ile299fs)
NM_007194.4(CHEK2):c.897del (p.Ile299fs)
NM_007194.4(CHEK2):c.898del (p.Val300fs)
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter) rs886039739
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007194.4(CHEK2):c.904G>T (p.Glu302Ter)
NM_007194.4(CHEK2):c.906del (p.Glu302fs) rs2052974883
NM_007194.4(CHEK2):c.908+1540_1095+330del
NM_007194.4(CHEK2):c.908+715_1095+298del
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter) rs1233699096
NM_007194.4(CHEK2):c.909-49_1095+51del
NM_007194.4(CHEK2):c.919G>T (p.Gly307Ter) rs1555915533
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs) rs786203053
NM_007194.4(CHEK2):c.919_920dup (p.Leu309fs)
NM_007194.4(CHEK2):c.919_940del (p.Gly307fs) rs2145844027
NM_007194.4(CHEK2):c.920del (p.Gly307fs) rs786203053
NM_007194.4(CHEK2):c.920dup (p.Glu308fs) rs786203053
NM_007194.4(CHEK2):c.921del (p.Glu308fs)
NM_007194.4(CHEK2):c.923_987del (p.Glu308fs)
NM_007194.4(CHEK2):c.926dup (p.Phe310fs)
NM_007194.4(CHEK2):c.938del (p.Val313fs) rs2052766776
NM_007194.4(CHEK2):c.945del (p.Asn316fs) rs2052765649
NM_007194.4(CHEK2):c.948del (p.Asn316fs) rs2052765413
NM_007194.4(CHEK2):c.94del (p.Ser32fs) rs2146152456
NM_007194.4(CHEK2):c.952del (p.Arg318fs) rs749153163
NM_007194.4(CHEK2):c.956del (p.Leu319fs)
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter) rs1555915433
NM_007194.4(CHEK2):c.963del (p.Ala322fs) rs2052762437
NM_007194.4(CHEK2):c.968_969del (p.Thr323fs) rs2145842905
NM_007194.4(CHEK2):c.971del (p.Cys324fs) rs1569121172
NM_007194.4(CHEK2):c.974del (p.Lys325fs) rs1555915409
NM_007194.4(CHEK2):c.975_978del (p.Lys325fs)
NM_007194.4(CHEK2):c.979dup (p.Tyr327fs) rs1555915392
NM_007194.4(CHEK2):c.985del (p.Tyr329fs) rs1569121048
NM_007194.4(CHEK2):c.985dup (p.Tyr329fs)
NM_007194.4(CHEK2):c.986dup (p.Tyr329Ter)
NM_007194.4(CHEK2):c.987C>A (p.Tyr329Ter)
NM_007194.4(CHEK2):c.987C>G (p.Tyr329Ter)
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter) rs768973809
NM_007194.4(CHEK2):c.989del (p.Gln330fs) rs2052759328
NM_007194.4(CHEK2):c.98C>A (p.Ser33Ter) rs2054331180
NM_007194.4(CHEK2):c.98C>G (p.Ser33Ter)
NM_007194.4(CHEK2):c.990del (p.Met331fs) rs1601738338
NM_007194.4(CHEK2):c.992_999delinsGCTT (p.Met331fs)
NM_007194.4(CHEK2):c.993del (p.Met331fs)
NM_007194.4(CHEK2):c.995del (p.Leu332fs) rs2052758032
NM_007194.4(CHEK2):c.996_1006del (p.Leu333fs) rs2145841388
NM_007194.4(CHEK2):c.998T>A (p.Leu333Ter) rs2145841647
NM_007194.4(CHEK2):c.99del (p.Gln34fs)
NM_007194.4:c.(908+1_909-1)_(1095+1_1096-1)del
NM_007294.3(BRCA1):c.135-?_441+?del
NM_007294.3(BRCA1):c.4186-?_4675+?del
NM_007294.3(BRCA1):c.4186-?_4986+?del
NM_007294.3(BRCA1):c.4358-?_5277+?del
NM_007294.3(BRCA1):c.4485-?_4986+?del
NM_007294.3(BRCA1):c.4987-?_5074+?del
NM_007294.3(BRCA1):c.548-?_5193+?del
NM_007294.3(BRCA1):c.?-232_4484+?del
NM_007294.3:c.1363insT
NM_007294.3:c.3764insA
NM_007294.4(BRCA1):c.-107A>T rs2154580237
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter) rs80356935
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter) rs80357215
NM_007294.4(BRCA1):c.1100del (p.Thr367fs) rs2154476126
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter) rs886040898
NM_007294.4(BRCA1):c.1193C>A (p.Ser398Ter) rs80357068
NM_007294.4(BRCA1):c.1195_1196del (p.Ser398_His399insTer) rs2154471163
NM_007294.4(BRCA1):c.1204del (p.Glu402fs) rs80357859
NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter) rs80357481
NM_007294.4(BRCA1):c.1224del (p.Lys408_Val409insTer) rs879255320
NM_007294.4(BRCA1):c.1261G>T (p.Glu421Ter) rs80357046
NM_007294.4(BRCA1):c.1299dup (p.Ser434fs) rs886037786
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.1320_1330del (p.Leu440_Ile441insTer) rs2154458213
NM_007294.4(BRCA1):c.1325_1326dup (p.Lys443fs) rs80357543
NM_007294.4(BRCA1):c.1327A>T (p.Lys443Ter) rs398122630
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs) rs80357714
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs) rs80357770
NM_007294.4(BRCA1):c.1390_1391insG (p.Thr464fs) rs397508867
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs) rs879255476
NM_007294.4(BRCA1):c.1465G>T (p.Glu489Ter) rs80357167
NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter) rs62625303
NM_007294.4(BRCA1):c.1483G>T (p.Glu495Ter) rs2053932763
NM_007294.4(BRCA1):c.1499del (p.Asn500fs) rs397508874
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.1508del (p.Lys503fs) rs80357506
NM_007294.4(BRCA1):c.1674del (p.Gly559fs) rs80357600
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter) rs730881473
NM_007294.4(BRCA1):c.1728del (p.Glu577fs) rs397507192
NM_007294.4(BRCA1):c.1796_1799del (p.Asn599fs) rs1380657206
NM_007294.4(BRCA1):c.1848_1861del (p.Thr617fs) rs2154416271
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs) rs80357567
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter) rs80357086
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.1912del (p.Glu638fs) rs80357933
NM_007294.4(BRCA1):c.1952del (p.Lys651fs) rs80357885
NM_007294.4(BRCA1):c.1960_1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter) rs273898674
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.212+1G>T rs80358042
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.213-1G>A rs80358146
NM_007294.4(BRCA1):c.213-2A>G rs397508940
NM_007294.4(BRCA1):c.2131_2132del (p.Lys711fs) rs398122653
NM_007294.4(BRCA1):c.2188G>T (p.Glu730Ter) rs80357058
NM_007294.4(BRCA1):c.2241dup (p.Lys748fs) rs80357650
NM_007294.4(BRCA1):c.2253_2254del (p.Met751fs) rs80357602
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter) rs41286296
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter) rs80357063
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.2365del (p.Ser789fs) rs2154381368
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs) rs80357706
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter) rs80357350
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2489_2492del (p.Lys830fs) rs886040043
NM_007294.4(BRCA1):c.2536G>T (p.Glu846Ter) rs786203523
NM_007294.4(BRCA1):c.2556_2557insTTCACTTTTC (p.Asp853fs) rs397508979
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter) rs80357131
NM_007294.4(BRCA1):c.2570T>A (p.Leu857Ter) rs886037787
NM_007294.4(BRCA1):c.2572C>T (p.Gln858Ter) rs397508983
NM_007294.4(BRCA1):c.2594del (p.Lys865fs) rs80357756
NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter) rs886038001
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter) rs80357251
NM_007294.4(BRCA1):c.2683del (p.Gln895fs) rs2154364983
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.2764_2767del (p.Thr922fs) rs80357822
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter) rs80357223
NM_007294.4(BRCA1):c.2802del (p.Asp936fs) rs2053694038
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs) rs80357832
NM_007294.4(BRCA1):c.2827A>T (p.Lys943Ter) rs2154357524
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs) rs386134270
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) rs80357819
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) rs80357115
NM_007294.4(BRCA1):c.2938del (p.Ile980fs) rs730881439
NM_007294.4(BRCA1):c.2952del (p.Ile986fs) rs80357627
NM_007294.4(BRCA1):c.2_80+4del rs2154576469
NM_007294.4(BRCA1):c.3016del (p.His1006fs) rs2154347100
NM_007294.4(BRCA1):c.302-167_441+3del rs2154548547
NM_007294.4(BRCA1):c.302-1G>A rs80358116
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs) rs80357856
NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter) rs80357004
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter) rs273899698
NM_007294.4(BRCA1):c.3225_3226del (p.Asn1075fs) rs2154335955
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs) rs80357635
NM_007294.4(BRCA1):c.3243_3288dup (p.Ser1097delinsCysTyrAlaTer) rs1555588016
NM_007294.4(BRCA1):c.3247_3251del (p.Ala1082_Met1083insTer) rs1135401859
NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter) rs80357006
NM_007294.4(BRCA1):c.3266del (p.Leu1089fs) rs886040109
NM_007294.4(BRCA1):c.3279del (p.Tyr1094fs) rs397509050
NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter) rs80357485
NM_007294.4(BRCA1):c.329dup (p.Glu111fs) rs80357604
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.3333del (p.Glu1112fs) rs80357966
NM_007294.4(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer) rs80357945
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs) rs397509067
NM_007294.4(BRCA1):c.3476del (p.Ile1159fs) rs2154311311
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.4(BRCA1):c.3626T>G (p.Leu1209Ter) rs786203884
NM_007294.4(BRCA1):c.3626dup (p.Leu1209fs) rs80357571
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.4(BRCA1):c.3644_3648del (p.Asn1215fs) rs1060505051
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs) rs80357902
NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter) rs80357310
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
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.3770_3771del (p.Glu1257fs) rs80357579
NM_007294.4(BRCA1):c.3794del (p.Asn1265fs) rs80357767
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter) rs80357208
NM_007294.4(BRCA1):c.3819_3823del (p.Gln1273fs) rs886037785
NM_007294.4(BRCA1):c.3823dup (p.Ile1275fs) rs2154283296
NM_007294.4(BRCA1):c.3833del (p.Lys1278fs) rs1135401868
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter) rs80356866
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter) rs80357440
NM_007294.4(BRCA1):c.3914dup (p.Asp1305fs) rs2154277394
NM_007294.4(BRCA1):c.3982del (p.Ser1328fs) rs2053490037
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs) rs80357727
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter) rs80357202
NM_007294.4(BRCA1):c.4062_4066del (p.Asn1354fs) rs886040192
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4069_4070insTTGA (p.Glu1357fs) rs886037788
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.4161_4162del (p.Gln1388fs) rs80357565
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+1G>A rs80358076
NM_007294.4(BRCA1):c.4237del (p.Glu1413fs) rs2154157535
NM_007294.4(BRCA1):c.4251_4252del (p.Leu1418fs) rs80357977
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4287C>A (p.Tyr1429Ter) rs397509160
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4342del (p.Ser1448fs) rs886040225
NM_007294.4(BRCA1):c.4372_4373del (p.Gln1458fs) rs879255317
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) rs273900730
NM_007294.4(BRCA1):c.4406dup (p.Glu1470fs) rs2052734372
NM_007294.4(BRCA1):c.441+2T>A rs397509173
NM_007294.4(BRCA1):c.4467del (p.Glu1490fs) rs2154059325
NM_007294.4(BRCA1):c.4484+1G>A rs80358063
NM_007294.4(BRCA1):c.4484+2T>C 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.4485-10_4491del rs2154024242
NM_007294.4(BRCA1):c.4485-2A>T rs80358054
NM_007294.4(BRCA1):c.4487C>A (p.Ser1496Ter) rs80356953
NM_007294.4(BRCA1):c.4493del (p.Pro1498fs) rs398122687
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4624_4628del (p.Ser1542fs) rs2153997899
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs) rs80357542
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4675+1G>T rs80358044
NM_007294.4(BRCA1):c.4677_5075del (p.Glu1559_Thr1691del)
NM_007294.4(BRCA1):c.4678_4679del (p.Gly1560fs) rs1555581104
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer) rs80357887
NM_007294.4(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer) rs80357718
NM_007294.4(BRCA1):c.4712del (p.Phe1571fs) rs886037790
NM_007294.4(BRCA1):c.4755del (p.Glu1586fs) rs886037789
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter) rs80357303
NM_007294.4(BRCA1):c.4818del (p.Val1607fs) rs1555580883
NM_007294.4(BRCA1):c.4903del (p.Glu1635fs) rs1555580697
NM_007294.4(BRCA1):c.4936del (p.Val1646fs) rs80357653
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+6T>G rs80358086
NM_007294.4(BRCA1):c.4987-1331_5152+2del
NM_007294.4(BRCA1):c.4987-5T>C rs397509214
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5049_5050dup (p.Thr1684fs) rs2153700736
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter) rs80357133
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5074+1G>A rs80358053
NM_007294.4(BRCA1):c.5074+2T>C rs80358089
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5075-390_5193+2del
NM_007294.4(BRCA1):c.5084_5085del (p.Phe1695fs) rs80357760
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs) rs80357608
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5141_5144del (p.Val1714fs) rs2153585533
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs) rs80357720
NM_007294.4(BRCA1):c.5153-2A>C rs786202545
NM_007294.4(BRCA1):c.5153-2del rs273901746
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter) rs80357239
NM_007294.4(BRCA1):c.5156del (p.Val1719fs) rs1057517590
NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter) rs878854957
NM_007294.4(BRCA1):c.5194-119_5277+3del rs2153352800
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.5194-1_5277+2del rs2153353204
NM_007294.4(BRCA1):c.5194-2A>G rs80358069
NM_007294.4(BRCA1):c.5194-836_5277+3del rs2153352893
NM_007294.4(BRCA1):c.519del (p.Gln174fs) rs886037784
NM_007294.4(BRCA1):c.5205del (p.Val1736fs) rs587781258
NM_007294.4(BRCA1):c.5209dup (p.Arg1737fs) rs886040278
NM_007294.4(BRCA1):c.520C>T (p.Gln174Ter) rs1567806048
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5241del (p.Gly1748fs) rs80357791
NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr) rs397509246
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_007294.4(BRCA1):c.5280del (p.Phe1761fs) rs2153085709
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs) rs80357590
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.5368del (p.Ser1790fs) rs879254116
NM_007294.4(BRCA1):c.5407-1G>A rs80358029
NM_007294.4(BRCA1):c.5407-73_5467+4del rs2152762741
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs) rs80357558
NM_007294.4(BRCA1):c.541G>T (p.Glu181Ter) rs1131692162
NM_007294.4(BRCA1):c.5463_5464insT (p.His1822fs) rs1057518636
NM_007294.4(BRCA1):c.5470_5477delATTGGGCA rs80357973
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.66_67delinsTT (p.Leu22_Glu23delinsPheTer) rs2154576881
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.672del (p.Ala225fs) rs2154500888
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.4(BRCA1):c.678T>A (p.Cys226Ter) rs397509308
NM_007294.4(BRCA1):c.689_692del (p.Glu230fs) rs886040308
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.695dup (p.Asp232fs) rs1555593302
NM_007294.4(BRCA1):c.709G>T (p.Glu237Ter) rs2154496548
NM_007294.4(BRCA1):c.737del (p.Asp245_Leu246insTer) rs397509312
NM_007294.4(BRCA1):c.744del (p.Thr249fs) rs1060502360
NM_007294.4(BRCA1):c.788dup (p.Gly263_Ser264insTer) rs886040319
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.81_134del (p.Cys27_Lys45delinsTer) rs1555599208
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.851del (p.Gln284fs) rs2154489483
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter) rs879255498
NM_007294.4(BRCA1):c.938T>G (p.Leu313Ter) rs1407786310
NM_007294.4(BRCA1):c.968del (p.Gly323fs) rs2154481843
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter) rs1558280170
NM_024675.3(PALB2):c.-200_3113+?del
NM_024675.3(PALB2):c.1050_1051delinsTCT (p.Gln350fs) rs180177098
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
NM_024675.3(PALB2):c.1724dup (p.Ser576Glufs) rs1555460682
NM_024675.3(PALB2):c.2835-281_3113+1374del
NM_024675.3(PALB2):c.2835-324_3202-1757dup
NM_024675.3(PALB2):c.3114-?_*(1_?)del
NM_024675.3(PALB2):c.3114-?_3201+?del
NM_024675.3(PALB2):c.3202-?_3350+?del
NM_024675.3(PALB2):c.3351-?_*(1_?)del
NM_024675.3(PALB2):c.3351-?_*297del
NM_024675.4(PALB2):c.-4_15del (p.Met1fs)
NM_024675.4(PALB2):c.1002C>A (p.Tyr334Ter) rs1967002667
NM_024675.4(PALB2):c.1002C>G (p.Tyr334Ter)
NM_024675.4(PALB2):c.1010T>A (p.Leu337Ter) rs45494092
NM_024675.4(PALB2):c.1010T>G (p.Leu337Ter) rs45494092
NM_024675.4(PALB2):c.1010del (p.Leu337fs) rs1967002076
NM_024675.4(PALB2):c.1011dup (p.Pro338fs)
NM_024675.4(PALB2):c.1013_1016delinsTGG (p.Pro338fs)
NM_024675.4(PALB2):c.1013del (p.Pro338fs)
NM_024675.4(PALB2):c.1021G>T (p.Glu341Ter) rs2142428256
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) rs180177097
NM_024675.4(PALB2):c.1031del (p.Asn344fs) rs1485260432
NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs) rs1555461488
NM_024675.4(PALB2):c.1037_1038del (p.Lys346fs) rs1597097438
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs) rs587776410
NM_024675.4(PALB2):c.1038del (p.Glu347fs) rs1597097438
NM_024675.4(PALB2):c.1039G>T (p.Glu347Ter) rs1060499812
NM_024675.4(PALB2):c.1039_1042delinsAAAAAA (p.Glu347fs) rs1567221761
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.4(PALB2):c.1042del (p.Gln348fs) rs1597097408
NM_024675.4(PALB2):c.1046del (p.Asn349fs) rs1555461484
NM_024675.4(PALB2):c.1047_1050del (p.Asn349fs) rs1060499813
NM_024675.4(PALB2):c.1048C>T (p.Gln350Ter) rs1060502788
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs) rs515726060
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs) rs180177099
NM_024675.4(PALB2):c.1056_1065del (p.Lys353fs) rs2142426926
NM_024675.4(PALB2):c.1059_1077delinsGG (p.Ser354fs) rs1555461460
NM_024675.4(PALB2):c.1059del (p.Lys353fs) rs730881872
NM_024675.4(PALB2):c.1061del (p.Ser354fs)
NM_024675.4(PALB2):c.1064_1067del (p.Leu355fs)
NM_024675.4(PALB2):c.1064del (p.Ser354_Leu355insTer) rs1555461472
NM_024675.4(PALB2):c.1065_1069del (p.Leu355fs) rs2142426807
NM_024675.4(PALB2):c.1067_1068insTA (p.Lys356fs) rs1064795168
NM_024675.4(PALB2):c.1068dup (p.Ser357fs)
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter) rs757369748
NM_024675.4(PALB2):c.1071_1072del (p.Pro358fs) rs1555461467
NM_024675.4(PALB2):c.1078_1084del (p.Asp360fs) rs2142426385
NM_024675.4(PALB2):c.1082del (p.Thr361fs)
NM_024675.4(PALB2):c.1084_1085del (p.Thr361_Leu362insTer) rs1597097182
NM_024675.4(PALB2):c.1085_1086del (p.Leu362fs) rs786203399
NM_024675.4(PALB2):c.109-12T>A rs774949203
NM_024675.4(PALB2):c.109-2A>G rs730881897
NM_024675.4(PALB2):c.1097dup (p.Asn366fs)
NM_024675.4(PALB2):c.1100_1163del (p.Glu367fs)
NM_024675.4(PALB2):c.1103_1110del (p.Asn368fs)
NM_024675.4(PALB2):c.1106_1116del (p.Leu369fs) rs2142425504
NM_024675.4(PALB2):c.1107del (p.Gln370fs)
NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter) rs587776411
NM_024675.4(PALB2):c.1111G>T (p.Glu371Ter)
NM_024675.4(PALB2):c.1114del (p.Ser372fs)
NM_024675.4(PALB2):c.1114dup (p.Ser372fs) rs1060499815
NM_024675.4(PALB2):c.1117G>T (p.Glu373Ter) rs1597097072
NM_024675.4(PALB2):c.1117del (p.Glu373fs)
NM_024675.4(PALB2):c.1122del (p.Ile374_Leu375insTer)
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter) rs929474806
NM_024675.4(PALB2):c.1133del (p.Pro378fs)
NM_024675.4(PALB2):c.1138_1139del (p.Ser380_Leu381insTer) rs1567221521
NM_024675.4(PALB2):c.1138_1148del (p.Ser380fs)
NM_024675.4(PALB2):c.1142_1143del (p.Leu381fs) rs2142424706
NM_024675.4(PALB2):c.1152_1153insCA (p.Ala385fs)
NM_024675.4(PALB2):c.1152del (p.Ala385fs) rs1567221493
NM_024675.4(PALB2):c.1156del (p.Thr386fs) rs1597096949
NM_024675.4(PALB2):c.1156dup (p.Thr386fs) rs1597096949
NM_024675.4(PALB2):c.115C>T (p.Gln39Ter) rs876659319
NM_024675.4(PALB2):c.1161del (p.Pro388fs) rs1966989564
NM_024675.4(PALB2):c.1163dup (p.Leu389fs) rs869312772
NM_024675.4(PALB2):c.1168dup (p.Ser390fs) rs1966988658
NM_024675.4(PALB2):c.1170del (p.Ala391fs) rs2142423901
NM_024675.4(PALB2):c.1179dup (p.His394fs) rs1567221417
NM_024675.4(PALB2):c.1183del (p.Ser395fs) rs1555461415
NM_024675.4(PALB2):c.1186dup (p.Cys396fs) rs1555461413
NM_024675.4(PALB2):c.1187dup (p.Cys396fs)
NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter) rs587780817
NM_024675.4(PALB2):c.1189del (p.Thr397fs)
NM_024675.4(PALB2):c.118del (p.Arg40fs) rs1597101532
NM_024675.4(PALB2):c.1192del (p.Val398fs) rs1555461407
NM_024675.4(PALB2):c.1202_1203insT (p.Leu402fs)
NM_024675.4(PALB2):c.1206del (p.Leu403fs) rs876658431
NM_024675.4(PALB2):c.1207_1208del (p.Leu403fs)
NM_024675.4(PALB2):c.1209_1224del (p.Phe404fs)
NM_024675.4(PALB2):c.120del (p.Ala41fs)
NM_024675.4(PALB2):c.1212del (p.Pro405fs)
NM_024675.4(PALB2):c.1212dup (p.Pro405fs) rs1567221328
NM_024675.4(PALB2):c.1216del (p.Ala406fs) rs876659741
NM_024675.4(PALB2):c.1217_1218insTT (p.Ala406_Glu407insTer)
NM_024675.4(PALB2):c.1223_1224dup (p.Tyr409fs) rs2142422279
NM_024675.4(PALB2):c.1226dup (p.Tyr409Ter) rs1966983494
NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter) rs1555461386
NM_024675.4(PALB2):c.1227_1231del (p.Tyr409_Arg411delinsTer) rs1555461385
NM_024675.4(PALB2):c.1227del (p.Tyr408_Tyr409insTer)
NM_024675.4(PALB2):c.1234del (p.Thr412fs)
NM_024675.4(PALB2):c.123del (p.Glu42fs) rs1967104136
NM_024675.4(PALB2):c.1241_1356del (p.Arg414fs)
NM_024675.4(PALB2):c.1242_1243dup (p.Ser415fs)
NM_024675.4(PALB2):c.1248del (p.Met416fs) rs1966981959
NM_024675.4(PALB2):c.1263del (p.Lys422_Val423insTer) rs2142421147
NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer) rs1555461366
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter) rs1555461358
NM_024675.4(PALB2):c.128dup (p.Ile44fs)
NM_024675.4(PALB2):c.1291_1292del (p.His432fs) rs786203057
NM_024675.4(PALB2):c.1296_1306del (p.His432fs)
NM_024675.4(PALB2):c.12dup (p.Pro5fs) rs879254062
NM_024675.4(PALB2):c.1314del (p.Phe440fs) rs515726065
NM_024675.4(PALB2):c.1314dup (p.Gly439fs) rs515726065
NM_024675.4(PALB2):c.1317del (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1317dup (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1319_1320insSVAelement
NM_024675.4(PALB2):c.1320dup (p.Lys441Ter) rs2142419403
NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter) rs1555461339
NM_024675.4(PALB2):c.1331del (p.Asn444fs)
NM_024675.4(PALB2):c.1342_1343insTAAAAATTTAAACCTTTCCAATGAGGAAACTGACCAAAGTGAAATTAGGATGTCTGGCACATGCACAGGACAACCAAGTTCAANNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAGGATGCAA (p.Ser448delinsIleLysIleTer) rs2142418871
NM_024675.4(PALB2):c.1342del (p.Ser448fs)
NM_024675.4(PALB2):c.1343del (p.Ser448fs)
NM_024675.4(PALB2):c.1348_1349del (p.Asn450fs)
NM_024675.4(PALB2):c.1352T>G (p.Leu451Ter) rs1966974831
NM_024675.4(PALB2):c.1352dup (p.Leu451fs) rs1597096326
NM_024675.4(PALB2):c.1359_1360insGT (p.Ser454fs) rs2142418386
NM_024675.4(PALB2):c.1360del (p.Ser454fs)
NM_024675.4(PALB2):c.1362del (p.Asn455fs) rs1555461323
NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter) rs1060502785
NM_024675.4(PALB2):c.1369G>T (p.Glu457Ter) rs878855099
NM_024675.4(PALB2):c.1369del (p.Glu457fs) rs2142418150
NM_024675.4(PALB2):c.136_148del (p.His46fs) rs2142457035
NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter) rs876658166
NM_024675.4(PALB2):c.1378_1379inv (p.Gln460Ter)
NM_024675.4(PALB2):c.1382del (p.Ser461fs)
NM_024675.4(PALB2):c.1386_1390dup (p.Arg464fs) rs2142417496
NM_024675.4(PALB2):c.1392del (p.Met465fs)
NM_024675.4(PALB2):c.1397_1399delinsT (p.Ser466fs)
NM_024675.4(PALB2):c.1400del (p.Gly467fs)
NM_024675.4(PALB2):c.1408_1411dup (p.Gly471fs)
NM_024675.4(PALB2):c.1408del (p.Thr470fs) rs2142416902
NM_024675.4(PALB2):c.1414C>T (p.Gln472Ter)
NM_024675.4(PALB2):c.1416_1431del (p.Gln472fs)
NM_024675.4(PALB2):c.1416del (p.Gln472fs)
NM_024675.4(PALB2):c.1417_1433del (p.Pro473fs)
NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter) rs886039479
NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter) rs886039479
NM_024675.4(PALB2):c.1424del (p.Ser474_Ser475insTer) rs1555461295
NM_024675.4(PALB2):c.1424dup (p.Arg476fs) rs1555461294
NM_024675.4(PALB2):c.1425_1426insT (p.Arg476Ter) rs876659341
NM_024675.4(PALB2):c.1426del (p.Arg476fs) rs1184981956
NM_024675.4(PALB2):c.1427dup (p.Thr477fs) rs2142416277
NM_024675.4(PALB2):c.1429del (p.Thr477fs) rs1555461287
NM_024675.4(PALB2):c.1431del (p.Ser478fs) rs587776412
NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs)
NM_024675.4(PALB2):c.1435C>T (p.Gln479Ter) rs1060502761
NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs) rs1555461280
NM_024675.4(PALB2):c.1438A>T (p.Lys480Ter) rs1057520653
NM_024675.4(PALB2):c.1438_1441del (p.Lys480fs)
NM_024675.4(PALB2):c.1440del (p.Lys480fs) rs1555461278
NM_024675.4(PALB2):c.1442_1443del (p.Leu481fs)
NM_024675.4(PALB2):c.1447_1448del (p.Ser483fs) rs1966967463
NM_024675.4(PALB2):c.1448C>A (p.Ser483Ter) rs1057520736
NM_024675.4(PALB2):c.1450_1453dup (p.Thr485fs)
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter) rs786203714
NM_024675.4(PALB2):c.1453del (p.Thr485fs)
NM_024675.4(PALB2):c.1454_1458del (p.Thr485fs) rs2142415370
NM_024675.4(PALB2):c.1465del (p.Ser489fs) rs1064793220
NM_024675.4(PALB2):c.1467_1468del (p.Pro490fs) rs879253960
NM_024675.4(PALB2):c.1468_1470delinsTTAACTAAAGTCA (p.Pro490fs) rs1966964908
NM_024675.4(PALB2):c.1476del (p.Thr494fs)
NM_024675.4(PALB2):c.1479del (p.Thr494fs) rs515726071
NM_024675.4(PALB2):c.1485del (p.Asp496fs) rs1555461256
NM_024675.4(PALB2):c.1490del (p.Asn497fs) rs1555461253
NM_024675.4(PALB2):c.1496T>A (p.Leu499Ter) rs886039620
NM_024675.4(PALB2):c.1524del (p.Gly509fs)
NM_024675.4(PALB2):c.1529_1535del (p.Arg510fs)
NM_024675.4(PALB2):c.1535dup (p.Tyr512Ter) rs1966959467
NM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter) rs1567220802
NM_024675.4(PALB2):c.1536C>G (p.Tyr512Ter)
NM_024675.4(PALB2):c.1538del (p.Thr513fs) rs879253892
NM_024675.4(PALB2):c.1539dup (p.Gly514fs) rs1567220784
NM_024675.4(PALB2):c.1541del (p.Gly514fs)
NM_024675.4(PALB2):c.1543A>T (p.Lys515Ter)
NM_024675.4(PALB2):c.1546del (p.Arg516fs) rs587781560
NM_024675.4(PALB2):c.1546dup (p.Arg516fs) rs587781560
NM_024675.4(PALB2):c.1547_1548del (p.Arg516fs) rs2142412914
NM_024675.4(PALB2):c.1549A>T (p.Lys517Ter)
NM_024675.4(PALB2):c.1550_1551del (p.Lys517fs)
NM_024675.4(PALB2):c.1551dup (p.Ser518fs)
NM_024675.4(PALB2):c.1553C>A (p.Ser518Ter) rs1060502805
NM_024675.4(PALB2):c.1553C>G (p.Ser518Ter) rs1060502805
NM_024675.4(PALB2):c.1560C>A (p.Cys520Ter)
NM_024675.4(PALB2):c.1565del (p.Pro522fs) rs1555461217
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter) rs587776413
NM_024675.4(PALB2):c.1575del (p.His526fs) rs2142412137
NM_024675.4(PALB2):c.1582G>T (p.Glu528Ter)
NM_024675.4(PALB2):c.1587_1589delinsCC (p.Leu531fs)
NM_024675.4(PALB2):c.1591_1592del (p.Leu531fs) rs180177102
NM_024675.4(PALB2):c.1591_1600del (p.Pro532fs) rs587776414
NM_024675.4(PALB2):c.1592T>A (p.Leu531Ter)
NM_024675.4(PALB2):c.1592del (p.Leu531fs) rs180177102
NM_024675.4(PALB2):c.1597del (p.Thr533fs) rs2142411591
NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter)
NM_024675.4(PALB2):c.1613_1619del (p.Ile538fs) rs1966952995
NM_024675.4(PALB2):c.1614del (p.Ile538fs)
NM_024675.4(PALB2):c.1619dup (p.Asn540fs) rs1555461192
NM_024675.4(PALB2):c.1627_1639delinsTT (p.Lys543fs)
NM_024675.4(PALB2):c.1641_1669del (p.Ser548fs)
NM_024675.4(PALB2):c.1643C>G (p.Ser548Ter) rs1241049372
NM_024675.4(PALB2):c.1644del (p.His549fs)
NM_024675.4(PALB2):c.1645del (p.His549fs)
NM_024675.4(PALB2):c.1647del (p.His549fs)
NM_024675.4(PALB2):c.1648A>T (p.Lys550Ter) rs1555461178
NM_024675.4(PALB2):c.1650del (p.Lys550fs) rs886039624
NM_024675.4(PALB2):c.1652_1653del (p.Tyr551fs) rs2142410052
NM_024675.4(PALB2):c.1652dup (p.Tyr551Ter) rs1555461176
NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter) rs118203997
NM_024675.4(PALB2):c.1653del (p.Gln552fs) rs1555461174
NM_024675.4(PALB2):c.1668dup (p.Phe557fs)
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) rs1060502734
NM_024675.4(PALB2):c.1671_1676delinsCG (p.Ile558fs)
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer) rs515726073
NM_024675.4(PALB2):c.1677dup (p.Val560fs)
NM_024675.4(PALB2):c.1692_1693del (p.Arg566fs)
NM_024675.4(PALB2):c.1702C>T (p.Gln568Ter) rs876659354
NM_024675.4(PALB2):c.1702del (p.Gln568fs)
NM_024675.4(PALB2):c.1704_1707del (p.Lys569fs) rs1060502759
NM_024675.4(PALB2):c.1706_1707del (p.Lys569fs) rs1060502759
NM_024675.4(PALB2):c.1709_1710del (p.Glu570fs) rs1597091425
NM_024675.4(PALB2):c.1714del (p.Ser572fs) rs879254121
NM_024675.4(PALB2):c.1723del (p.Trp575fs)
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter) rs730881876
NM_024675.4(PALB2):c.1725G>A (p.Trp575Ter)
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.1731_1732insC (p.Ser578fs)
NM_024675.4(PALB2):c.1733del (p.Ser578fs)
NM_024675.4(PALB2):c.1735_1736dup (p.Tyr580fs) rs2142390444
NM_024675.4(PALB2):c.173dup (p.Leu58fs) rs2142456344
NM_024675.4(PALB2):c.1740T>G (p.Tyr580Ter)
NM_024675.4(PALB2):c.1741_1744del (p.Leu581fs) rs1555460671
NM_024675.4(PALB2):c.1742del (p.Leu581fs) rs1060502803
NM_024675.4(PALB2):c.1751del (p.Asp584fs) rs1966866862
NM_024675.4(PALB2):c.1753del (p.Asp585fs) rs1555460670
NM_024675.4(PALB2):c.1758del (p.Asp586fs) rs2142389968
NM_024675.4(PALB2):c.1759del (p.Ala587fs) rs2142389921
NM_024675.4(PALB2):c.1765_1771del (p.Thr589fs) rs1597091247
NM_024675.4(PALB2):c.1776dup (p.His593fs) rs1597091230
NM_024675.4(PALB2):c.1786G>T (p.Gly596Ter) rs1966866081
NM_024675.4(PALB2):c.1789del (p.Met597fs) rs1555460650
NM_024675.4(PALB2):c.178C>T (p.Gln60Ter) rs886039747
NM_024675.4(PALB2):c.1796_1805del (p.Ser599fs)
NM_024675.4(PALB2):c.1799T>G (p.Leu600Ter) rs1966865838
NM_024675.4(PALB2):c.179_189del (p.Gln60fs)
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter) rs876660475
NM_024675.4(PALB2):c.1807del (p.Leu603fs) rs2142388816
NM_024675.4(PALB2):c.1815_1843del (p.Ser605_Phe606insTer)
NM_024675.4(PALB2):c.1817_1818del (p.Phe606fs) rs1060499818
NM_024675.4(PALB2):c.1819del (p.Leu607fs)
NM_024675.4(PALB2):c.181C>T (p.Gln61Ter) rs1967100637
NM_024675.4(PALB2):c.1823_1824del (p.Ser608fs)
NM_024675.4(PALB2):c.1824dup (p.Ile609fs) rs1966865368
NM_024675.4(PALB2):c.1828del (p.Thr610fs)
NM_024675.4(PALB2):c.1837C>T (p.Gln613Ter) rs1966865214
NM_024675.4(PALB2):c.1838del (p.Gln613fs) rs1057517602
NM_024675.4(PALB2):c.1841T>A (p.Leu614Ter)
NM_024675.4(PALB2):c.1845del (p.Asp616fs) rs1555460627
NM_024675.4(PALB2):c.1848dup (p.Glu617Ter) rs1567218690
NM_024675.4(PALB2):c.1857del (p.Phe619fs) rs1966864847
NM_024675.4(PALB2):c.1858G>T (p.Gly620Ter)
NM_024675.4(PALB2):c.185del (p.Asp62fs)
NM_024675.4(PALB2):c.1872_1891del (p.Glu625fs) rs1966864164
NM_024675.4(PALB2):c.1873del (p.Glu625fs) rs1555460609
NM_024675.4(PALB2):c.1880_1881del (p.Val627fs) rs1597090903
NM_024675.4(PALB2):c.1881del (p.Lys628fs)
NM_024675.4(PALB2):c.1882A>T (p.Lys628Ter) rs1597090894
NM_024675.4(PALB2):c.1892C>G (p.Ser631Ter)
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.1911del (p.Phe638fs) rs2142386226
NM_024675.4(PALB2):c.1914del (p.Phe638fs) rs1555460593
NM_024675.4(PALB2):c.1915G>T (p.Glu639Ter) rs1555460592
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter) rs760094988
NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter) rs760094988
NM_024675.4(PALB2):c.191C>A (p.Ser64Ter)
NM_024675.4(PALB2):c.1924del (p.Met642fs) rs730881865
NM_024675.4(PALB2):c.1926del (p.Met642fs)
NM_024675.4(PALB2):c.192_193del (p.Pro65fs) rs2142455866
NM_024675.4(PALB2):c.1937_1938dup (p.His647fs) rs1555460584
NM_024675.4(PALB2):c.1942_1945delinsAAC (p.Leu648fs) rs1966863076
NM_024675.4(PALB2):c.1945A>T (p.Lys649Ter) rs1555460579
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) rs515726075
NM_024675.4(PALB2):c.1948G>T (p.Glu650Ter)
NM_024675.4(PALB2):c.1952_1955dup (p.Ser652fs)
NM_024675.4(PALB2):c.1958_1959insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGGAAGCTG (p.Cys653fs) rs2142385006
NM_024675.4(PALB2):c.1959_1966del (p.Ile654fs)
NM_024675.4(PALB2):c.1965del (p.Pro656fs) rs1597090596
NM_024675.4(PALB2):c.1965dup (p.Pro656fs) rs1597090596
NM_024675.4(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656fs) rs786204129
NM_024675.4(PALB2):c.1968_1976delinsGG (p.Glu657fs)
NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs) rs1966862408
NM_024675.4(PALB2):c.1972G>T (p.Glu658Ter) rs1555460542
NM_024675.4(PALB2):c.1972del (p.Glu658fs) rs1555460548
NM_024675.4(PALB2):c.1976_1977del (p.Leu659fs) rs2142384476
NM_024675.4(PALB2):c.1984A>T (p.Lys662Ter) rs1555460533
NM_024675.4(PALB2):c.1988dup (p.Met664fs) rs1966862297
NM_024675.4(PALB2):c.1990_1991insGTTC (p.Met664fs) rs2142384044
NM_024675.4(PALB2):c.1990del (p.Met664fs) rs1966862226
NM_024675.4(PALB2):c.199del (p.Gln66_Leu67insTer)
NM_024675.4(PALB2):c.1A>G (p.Met1Val) rs879254144
NM_024675.4(PALB2):c.2005del (p.Glu669fs)
NM_024675.4(PALB2):c.2006del (p.Glu669fs) rs587778584
NM_024675.4(PALB2):c.2014G>T (p.Glu672Ter) rs45532440
NM_024675.4(PALB2):c.2014del (p.Glu672fs) rs1966861952
NM_024675.4(PALB2):c.2016_2017insT (p.Glu673Ter) rs1966861886
NM_024675.4(PALB2):c.2016dup (p.Glu673fs) rs1966861906
NM_024675.4(PALB2):c.201_204dup (p.His69fs)
NM_024675.4(PALB2):c.2020_2021del (p.Asp674fs) rs2142383242
NM_024675.4(PALB2):c.2020del (p.Asp674fs) rs1966861838
NM_024675.4(PALB2):c.2026dup (p.Ile676fs) rs2142383088
NM_024675.4(PALB2):c.2032del (p.Leu678fs) rs730881866
NM_024675.4(PALB2):c.2036del (p.Pro679fs) rs2142382796
NM_024675.4(PALB2):c.2038G>T (p.Gly680Ter)
NM_024675.4(PALB2):c.2041A>T (p.Lys681Ter) rs2142382651
NM_024675.4(PALB2):c.2043del (p.Lys681fs)
NM_024675.4(PALB2):c.2043dup (p.Ser682fs)
NM_024675.4(PALB2):c.204del (p.Lys68fs) rs1555462031
NM_024675.4(PALB2):c.2052del (p.Arg686fs) rs587782680
NM_024675.4(PALB2):c.2056del (p.Arg686fs) rs1060502771
NM_024675.4(PALB2):c.2066C>A (p.Ser689Ter) rs749602688
NM_024675.4(PALB2):c.2067_2068delinsTT (p.Gln690Ter) rs2142382015
NM_024675.4(PALB2):c.2068C>T (p.Gln690Ter)
NM_024675.4(PALB2):c.2072del (p.Ser691fs)
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter) rs587776415
NM_024675.4(PALB2):c.2079del (p.His693fs) rs878855105
NM_024675.4(PALB2):c.2083A>T (p.Lys695Ter) rs1567218141
NM_024675.4(PALB2):c.2092del (p.Leu698fs) rs1060499819
NM_024675.4(PALB2):c.2095dup (p.Ser699fs)
NM_024675.4(PALB2):c.209C>G (p.Ser70Ter) rs763745734
NM_024675.4(PALB2):c.20dup (p.Pro8fs)
NM_024675.4(PALB2):c.2100_2110del (p.Ser701fs) rs1555460490
NM_024675.4(PALB2):c.2104_2107delinsTAA (p.Ile702_Leu703delinsTer)
NM_024675.4(PALB2):c.2105dup (p.Leu703fs) rs2142381049
NM_024675.4(PALB2):c.2109_2112del (p.Leu703fs) rs2142380816
NM_024675.4(PALB2):c.212-1G>A rs1597099910
NM_024675.4(PALB2):c.212-2A>C rs730881879
NM_024675.4(PALB2):c.2120del (p.Pro707fs) rs587780210
NM_024675.4(PALB2):c.2123T>A (p.Leu708Ter) rs1597090059
NM_024675.4(PALB2):c.2128dup (p.Thr710fs)
NM_024675.4(PALB2):c.2133del (p.Ala712fs)
NM_024675.4(PALB2):c.2139_2178del (p.Asp714fs)
NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs) rs515726081
NM_024675.4(PALB2):c.2154del (p.Arg718fs) rs730881867
NM_024675.4(PALB2):c.2160_2161insG (p.Thr721fs) rs1555460465
NM_024675.4(PALB2):c.2161_2186dup (p.Ile730fs)
NM_024675.4(PALB2):c.2161del (p.Thr721fs) rs1597089904
NM_024675.4(PALB2):c.2174C>G (p.Ser725Ter)
NM_024675.4(PALB2):c.2177dup (p.Ala727fs)
NM_024675.4(PALB2):c.2183del (p.Phe728fs)
NM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs) rs1597089845
NM_024675.4(PALB2):c.2186_2187del (p.Pro729fs) rs1567217908
NM_024675.4(PALB2):c.2187del (p.Ile730fs) rs1567217908
NM_024675.4(PALB2):c.2190del (p.Ile730_Leu731insTer)
NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter) rs1567217898
NM_024675.4(PALB2):c.2194_2200del (p.Gly732fs) rs1555460457
NM_024675.4(PALB2):c.2205del (p.Ala736fs) rs587782892
NM_024675.4(PALB2):c.2205dup (p.Ala736fs)
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter) rs1555460445
NM_024675.4(PALB2):c.2219_2220del (p.Gln740fs) rs1555460442
NM_024675.4(PALB2):c.2220del (p.Gly741fs) rs1597089741
NM_024675.4(PALB2):c.2222del (p.Gly741fs) rs2142377985
NM_024675.4(PALB2):c.2223_2224delinsG rs1567217830
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter) rs730881888
NM_024675.4(PALB2):c.2235del (p.Ala746fs) rs1966858562
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter) rs1555461875
NM_024675.4(PALB2):c.2244_2247dup (p.Val750fs)
NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter) rs1555460431
NM_024675.4(PALB2):c.224_228del (p.Lys75fs) rs1064795640
NM_024675.4(PALB2):c.2255_2267dup (p.Cys756fs) rs1555460423
NM_024675.4(PALB2):c.2255del (p.Gly752fs) rs2142377240
NM_024675.4(PALB2):c.2261del (p.Thr754fs)
NM_024675.4(PALB2):c.2263_2266dup (p.Cys756fs)
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs) rs755471995
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.4(PALB2):c.2275C>T (p.Gln759Ter) rs515726083
NM_024675.4(PALB2):c.2278del (p.Ala761fs)
NM_024675.4(PALB2):c.2281_2287del (p.Leu760_Ala761insTer)
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer) rs876659571
NM_024675.4(PALB2):c.228_229del (p.Ile76fs) rs1555461870
NM_024675.4(PALB2):c.2292dup (p.Asp765fs)
NM_024675.4(PALB2):c.2295del (p.Ser766fs) rs1597089469
NM_024675.4(PALB2):c.2296_2297del (p.Val767fs) rs876658170
NM_024675.4(PALB2):c.2297C>A (p.Ser766Ter)
NM_024675.4(PALB2):c.2297C>G (p.Ser766Ter)
NM_024675.4(PALB2):c.2297del (p.Asp765_Ser766insTer)
NM_024675.4(PALB2):c.2298_2301del (p.Cys768fs) rs1597089434
NM_024675.4(PALB2):c.2298dup (p.Val767fs) rs1555460407
NM_024675.4(PALB2):c.2305del (p.Ala770fs)
NM_024675.4(PALB2):c.2317dup (p.Thr773fs)
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter) rs180177111
NM_024675.4(PALB2):c.2325dup (p.Phe776fs) rs876659997
NM_024675.4(PALB2):c.2328del (p.Phe776fs) rs1966857445
NM_024675.4(PALB2):c.232_233del (p.Val78fs) rs776284609
NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter) rs1833331932
NM_024675.4(PALB2):c.2352dup (p.Pro785fs)
NM_024675.4(PALB2):c.2353_2354del (p.Pro785fs) rs2142374907
NM_024675.4(PALB2):c.2359dup (p.Thr787fs) rs2142374794
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024675.4(PALB2):c.2369_2372del (p.Gln790fs) rs1966856962
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter) rs1060502748
NM_024675.4(PALB2):c.2382_2383delinsTT (p.Arg794_Gln795delinsSerTer) rs2142374295
NM_024675.4(PALB2):c.2382_2394delinsTC (p.Arg794fs)
NM_024675.4(PALB2):c.2383C>T (p.Gln795Ter) rs1966856854
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter) rs1060502768
NM_024675.4(PALB2):c.2390_2396del (p.Gln797fs) rs587780211
NM_024675.4(PALB2):c.2391del (p.Gln797fs) rs1555460360
NM_024675.4(PALB2):c.2393_2394dup (p.Thr799fs) rs1966856749
NM_024675.4(PALB2):c.2400T>A (p.Cys800Ter)
NM_024675.4(PALB2):c.2405del (p.Cys802fs) rs1966856604
NM_024675.4(PALB2):c.2406_2407del (p.Cys802_Asp803delinsTer) rs1966856585
NM_024675.4(PALB2):c.2408_2409dup (p.Ser804fs)
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs) rs747148023
NM_024675.4(PALB2):c.2422G>T (p.Gly808Ter) rs1064795507
NM_024675.4(PALB2):c.2425_2432delinsCAG (p.Thr809fs)
NM_024675.4(PALB2):c.2425del (p.Thr809fs)
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs) rs1555460334
NM_024675.4(PALB2):c.2441_2447del (p.Glu814fs)
NM_024675.4(PALB2):c.2444C>A (p.Ser815Ter)
NM_024675.4(PALB2):c.2444C>G (p.Ser815Ter)
NM_024675.4(PALB2):c.2444_2451delinsGGTGGTG (p.Ser815fs)
NM_024675.4(PALB2):c.2453_2455delinsCT (p.Phe818fs)
NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs) rs1555460325
NM_024675.4(PALB2):c.2462del (p.Asn821fs)
NM_024675.4(PALB2):c.2463delinsAA (p.Asn821fs)
NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter) rs1555460323
NM_024675.4(PALB2):c.2470del (p.Cys824fs) rs876658348
NM_024675.4(PALB2):c.2470dup (p.Cys824fs) rs863224521
NM_024675.4(PALB2):c.2476_2477dup (p.Asn826fs)
NM_024675.4(PALB2):c.2477del (p.Asn826fs)
NM_024675.4(PALB2):c.2479del (p.Thr827fs) rs1597088811
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs) rs1555460315
NM_024675.4(PALB2):c.2480del (p.Thr827fs)
NM_024675.4(PALB2):c.2485C>T (p.Gln829Ter) rs1966855759
NM_024675.4(PALB2):c.2488del (p.Glu830fs) rs876658813
NM_024675.4(PALB2):c.2498_2505del (p.Lys833fs)
NM_024675.4(PALB2):c.249del (p.His83fs)
NM_024675.4(PALB2):c.24_25del (p.Leu9fs) rs2142481327
NM_024675.4(PALB2):c.2503del (p.Ser835fs)
NM_024675.4(PALB2):c.2506dup (p.Val836fs) rs1966855544
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter) rs587778587
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter) rs750650768
NM_024675.4(PALB2):c.2512_2513del (p.Gln838fs)
NM_024675.4(PALB2):c.2521del (p.Thr841fs) rs180177116
NM_024675.4(PALB2):c.2524_2535delinsTCAGA (p.Ala842fs) rs786203382
NM_024675.4(PALB2):c.2527_2548del (p.Ala842_Glu843insTer) rs2142368508
NM_024675.4(PALB2):c.2528del (p.Glu843fs)
NM_024675.4(PALB2):c.2534_2540del (p.Pro845fs)
NM_024675.4(PALB2):c.2549del (p.Ile850fs) rs2142368459
NM_024675.4(PALB2):c.2549dup (p.Asn851fs)
NM_024675.4(PALB2):c.2552_2556del (p.Asn851fs)
NM_024675.4(PALB2):c.2552dup (p.Asn851fs)
NM_024675.4(PALB2):c.2560_2561del (p.Asn854fs) rs1597088146
NM_024675.4(PALB2):c.2563del (p.Leu855fs) rs1966853795
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter) rs770996884
NM_024675.4(PALB2):c.2570dup (p.Leu857fs)
NM_024675.4(PALB2):c.2575del (p.Ser859fs) rs2142367858
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter) rs1057517539
NM_024675.4(PALB2):c.2576_2577del (p.Val858_Ser859insTer)
NM_024675.4(PALB2):c.2578G>T (p.Glu860Ter)
NM_024675.4(PALB2):c.2579del (p.Glu860fs)
NM_024675.4(PALB2):c.2582T>G (p.Leu861Ter)
NM_024675.4(PALB2):c.2585del (p.Lys862fs) rs752513498
NM_024675.4(PALB2):c.2586+1G>A
NM_024675.4(PALB2):c.2586+1G>T rs1375713365
NM_024675.4(PALB2):c.2587-404_2834+310del
NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter) rs746604683
NM_024675.4(PALB2):c.2597del (p.Gly866fs) rs786204156
NM_024675.4(PALB2):c.2604T>A (p.Cys868Ter)
NM_024675.4(PALB2):c.2604_2611del (p.Cys868_Asp871delinsTer) rs1966842803
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer) rs767633741
NM_024675.4(PALB2):c.2607dup (p.Val870fs) rs767633741
NM_024675.4(PALB2):c.2613del (p.Asp871fs)
NM_024675.4(PALB2):c.261dup (p.Leu88fs)
NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter) rs876660678
NM_024675.4(PALB2):c.2630_2643dup (p.Cys882fs) rs2142355316
NM_024675.4(PALB2):c.2631G>A (p.Trp877Ter) rs2142355636
NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter) rs1555459999
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs) rs876660643
NM_024675.4(PALB2):c.2635A>T (p.Arg879Ter)
NM_024675.4(PALB2):c.2641_2654del (p.Gly881fs)
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs) rs730881868
NM_024675.4(PALB2):c.2647A>T (p.Lys883Ter)
NM_024675.4(PALB2):c.2649dup (p.Glu884fs)
NM_024675.4(PALB2):c.264del (p.Asp89fs)
NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter) rs1304351755
NM_024675.4(PALB2):c.2655_2656insG (p.Cys886fs)
NM_024675.4(PALB2):c.2658T>A (p.Cys886Ter)
NM_024675.4(PALB2):c.2673C>A (p.Cys891Ter) rs78179744
NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter) rs45476495
NM_024675.4(PALB2):c.2686del (p.Ser896fs) rs1555459954
NM_024675.4(PALB2):c.2686dup (p.Ser896fs) rs1555459954
NM_024675.4(PALB2):c.268G>T (p.Glu90Ter)
NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter) rs876658983
NM_024675.4(PALB2):c.2694G>A (p.Trp898Ter) rs1555459949
NM_024675.4(PALB2):c.2702del (p.Leu901fs)
NM_024675.4(PALB2):c.2711G>A (p.Trp904Ter) rs1060502726
NM_024675.4(PALB2):c.2711_2712delinsAA (p.Trp904Ter)
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter) rs587781457
NM_024675.4(PALB2):c.2712del (p.Trp904fs)
NM_024675.4(PALB2):c.2716del (p.Trp906fs) rs1966842388
NM_024675.4(PALB2):c.2717G>A (p.Trp906Ter)
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter) rs180177122
NM_024675.4(PALB2):c.2719del (p.Glu907fs) rs1555459934
NM_024675.4(PALB2):c.2725del (p.Leu909fs)
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2728del (p.Tyr910fs) rs730881869
NM_024675.4(PALB2):c.2735G>A (p.Trp912Ter)
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter) rs1555459925
NM_024675.4(PALB2):c.2742del (p.Phe914fs) rs1966842281
NM_024675.4(PALB2):c.2743dup (p.Ala915fs)
NM_024675.4(PALB2):c.2747_2748+4del rs786203892
NM_024675.4(PALB2):c.2748+1G>A rs753153576
NM_024675.4(PALB2):c.2748+1G>C rs753153576
NM_024675.4(PALB2):c.2748+1G>T rs753153576
NM_024675.4(PALB2):c.274dup (p.Thr92fs) rs1567223192
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter) rs1567214493
NM_024675.4(PALB2):c.2759dup (p.Leu920fs)
NM_024675.4(PALB2):c.2760dup (p.Gln921fs) rs876660147
NM_024675.4(PALB2):c.2761C>T (p.Gln921Ter) rs180177124
NM_024675.4(PALB2):c.2762del (p.Gln921fs) rs1567214484
NM_024675.4(PALB2):c.2767del (p.Val923fs)
NM_024675.4(PALB2):c.2770_2773dup (p.Val925fs) rs1597082866
NM_024675.4(PALB2):c.2771del (p.Pro924fs) rs2142344237
NM_024675.4(PALB2):c.2773del (p.Val925fs) rs1597082860
NM_024675.4(PALB2):c.2787_2788del (p.Tyr929_Asn930delinsTer) rs587776418
NM_024675.4(PALB2):c.2787_2788dup (p.Asn930fs) rs587776418
NM_024675.4(PALB2):c.2800_2801del (p.Val934fs) rs2142343437
NM_024675.4(PALB2):c.2815_2822del (p.Leu939fs)
NM_024675.4(PALB2):c.2818del (p.Glu940fs) rs1555459709
NM_024675.4(PALB2):c.2820_2821del (p.Glu940fs)
NM_024675.4(PALB2):c.2821del (p.Ile941fs)
NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs) rs1224428422
NM_024675.4(PALB2):c.2832del (p.Arg945fs) rs1060499823
NM_024675.4(PALB2):c.2834+1G>A rs587776419
NM_024675.4(PALB2):c.2834+1G>C rs587776419
NM_024675.4(PALB2):c.2834+1G>T rs587776419
NM_024675.4(PALB2):c.2834+2T>C rs864622481
NM_024675.4(PALB2):c.2834+2T>G rs864622481
NM_024675.4(PALB2):c.2835-1G>C rs515726099
NM_024675.4(PALB2):c.2838_2842del (p.Cys949fs) rs1597081571
NM_024675.4(PALB2):c.2845del (p.Cys949fs)
NM_024675.4(PALB2):c.284dup (p.Thr96fs) rs1555461846
NM_024675.4(PALB2):c.2850del (p.Ser951fs) rs1060499824
NM_024675.4(PALB2):c.2860G>T (p.Glu954Ter) rs879254015
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter) rs1219715328
NM_024675.4(PALB2):c.2869A>T (p.Lys957Ter) rs515726103
NM_024675.4(PALB2):c.2870del (p.Lys957fs)
NM_024675.4(PALB2):c.2872C>T (p.Gln958Ter) rs1567213829
NM_024675.4(PALB2):c.2876_2877dup (p.Leu960fs) rs2142337034
NM_024675.4(PALB2):c.2876dup (p.Leu960fs)
NM_024675.4(PALB2):c.2878del (p.Leu960fs) rs1064795824
NM_024675.4(PALB2):c.2888_2902delinsA (p.Ser963fs)
NM_024675.4(PALB2):c.290dup (p.Ile98fs) rs1967057527
NM_024675.4(PALB2):c.2915del (p.Leu972fs) rs1555459553
NM_024675.4(PALB2):c.2919_2920insG (p.Lys974fs)
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) rs180177126
NM_024675.4(PALB2):c.2920_2923del (p.Lys974fs) rs786204122
NM_024675.4(PALB2):c.2923_2924del (p.Arg975fs) rs1966801432
NM_024675.4(PALB2):c.2931dup (p.Val978fs) rs587782570
NM_024675.4(PALB2):c.2936del (p.Ser979fs) rs1060502781
NM_024675.4(PALB2):c.2938del (p.Ser980fs) rs1555459540
NM_024675.4(PALB2):c.2950del (p.Leu984fs) rs1966800194
NM_024675.4(PALB2):c.2953del (p.Ser985fs) rs1597081202
NM_024675.4(PALB2):c.2959_2966dup (p.Glu990fs) rs875989792
NM_024675.4(PALB2):c.295dup (p.Thr99fs)
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs) rs1555459528
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) rs587781840
NM_024675.4(PALB2):c.2966del (p.Val989fs) rs2142334934
NM_024675.4(PALB2):c.2966dup (p.Glu990fs) rs2142334914
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter) rs876659036
NM_024675.4(PALB2):c.2974_2975del (p.Met992fs) rs1966798806
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs) rs1555459520
NM_024675.4(PALB2):c.2978_2994del (p.Thr993fs)
NM_024675.4(PALB2):c.2982dup (p.Ala995fs) rs180177127
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter) rs786203775
NM_024675.4(PALB2):c.298del (p.Asp101fs)
NM_024675.4(PALB2):c.2992G>T (p.Gly998Ter)
NM_024675.4(PALB2):c.2994del (p.Gly999fs)
NM_024675.4(PALB2):c.2995G>T (p.Gly999Ter)
NM_024675.4(PALB2):c.2999_3001delinsAC (p.Gly1000fs) rs1597079941
NM_024675.4(PALB2):c.2999del (p.Gly1000fs) rs1966773290
NM_024675.4(PALB2):c.2T>C (p.Met1Thr) rs756519825
NM_024675.4(PALB2):c.2T>G (p.Met1Arg)
NM_024675.4(PALB2):c.3003del (p.Glu1002fs)
NM_024675.4(PALB2):c.3004G>T (p.Glu1002Ter)
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs) rs786203488
NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs)
NM_024675.4(PALB2):c.3008_3009delinsTTACAGAGG (p.Asn1003fs)
NM_024675.4(PALB2):c.3008del (p.Asn1003fs) rs1567213009
NM_024675.4(PALB2):c.3008dup (p.Asn1003fs) rs1567213009
NM_024675.4(PALB2):c.3010C>T (p.Gln1004Ter)
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer) rs886039683
NM_024675.4(PALB2):c.3017dup (p.Leu1006fs)
NM_024675.4(PALB2):c.3026_3027insA (p.Pro1009_Glu1010insTer)
NM_024675.4(PALB2):c.3026del (p.Pro1009fs) rs180177131
NM_024675.4(PALB2):c.3027del (p.Glu1010fs) rs876659378
NM_024675.4(PALB2):c.3028G>T (p.Glu1010Ter) rs1966771907
NM_024675.4(PALB2):c.3031_3046del (p.Glu1011fs)
NM_024675.4(PALB2):c.3038_3039del (p.Ile1013fs) rs1597079810
NM_024675.4(PALB2):c.3041dup (p.Thr1015fs) rs1966771199
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3048dup (p.Ala1017fs)
NM_024675.4(PALB2):c.3050dup (p.Ala1017_Glu1018insTer)
NM_024675.4(PALB2):c.3052del (p.Glu1018fs) rs2142327301
NM_024675.4(PALB2):c.3058C>T (p.Gln1020Ter) rs2142327117
NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs) rs1597079711
NM_024675.4(PALB2):c.306del (p.Pro104fs)
NM_024675.4(PALB2):c.3072del (p.Ala1025fs)
NM_024675.4(PALB2):c.3074dup (p.Leu1026fs)
NM_024675.4(PALB2):c.3077dup (p.Leu1027fs)
NM_024675.4(PALB2):c.3081del (p.Gly1028fs) rs2142326602
NM_024675.4(PALB2):c.3083_3084insGCTCTGCTTGGGTGCCGGCGAGCGCCGCCTGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGGCAAGGAGCAGCCGCCTGNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAA (p.Gly1028_Thr1029insLeuCysLeuGlyAlaGlyGluArgArgLeuGlyGlySerGlyTrpArgSerGlyArgAlaProArgGlyProArgAlaArgSerSerArgLeuXaaXaaXaaXaaXaaLysLysLysLysLysLysLysAsn) rs2142326522
NM_024675.4(PALB2):c.3105del (p.Ile1035fs)
NM_024675.4(PALB2):c.3108_3112del (p.Ile1037fs) rs2142325956
NM_024675.4(PALB2):c.3114-1G>A rs886039619
NM_024675.4(PALB2):c.3114-239A>T
NM_024675.4(PALB2):c.3114-3511_3201+191del
NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter) rs778345761
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3119T>A (p.Leu1040Ter)
NM_024675.4(PALB2):c.3119T>G (p.Leu1040Ter)
NM_024675.4(PALB2):c.3124dup (p.Thr1042fs) rs1555458828
NM_024675.4(PALB2):c.3126del (p.Gly1043fs) rs1966637056
NM_024675.4(PALB2):c.3129dup (p.Gln1044fs) rs1567209922
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter) rs766394024
NM_024675.4(PALB2):c.3139A>T (p.Lys1047Ter)
NM_024675.4(PALB2):c.313G>T (p.Glu105Ter)
NM_024675.4(PALB2):c.3143del (p.Lys1048fs) rs1555458822
NM_024675.4(PALB2):c.314_315del (p.Glu105fs) rs1967055393
NM_024675.4(PALB2):c.3150_3151del (p.His1050_Ile1051insTer)
NM_024675.4(PALB2):c.3157_3160del (p.Asp1053fs) rs1555458815
NM_024675.4(PALB2):c.3161del (p.Ser1054fs)
NM_024675.4(PALB2):c.3164dup (p.Tyr1055Ter) rs1567209835
NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter) rs876658157
NM_024675.4(PALB2):c.3165C>G (p.Tyr1055Ter) rs876658157
NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter) rs1021662947
NM_024675.4(PALB2):c.3174dup (p.Val1059fs)
NM_024675.4(PALB2):c.3179_3180del (p.Cys1060fs)
NM_024675.4(PALB2):c.3179_3180insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNTTTATTTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGAAGCTTCAGTCTGG (p.Cys1060fs)
NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter) rs2142298948
NM_024675.4(PALB2):c.3186del (p.Ala1063fs) rs869312774
NM_024675.4(PALB2):c.318del (p.Phe107fs) rs1967055062
NM_024675.4(PALB2):c.3193dup (p.Ser1065fs)
NM_024675.4(PALB2):c.31del (p.Cys11fs)
NM_024675.4(PALB2):c.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_024675.4(PALB2):c.3202-1G>C rs515726111
NM_024675.4(PALB2):c.3210_3211del (p.Phe1071fs)
NM_024675.4(PALB2):c.3214_3216delinsTCCAA (p.Ile1072fs)
NM_024675.4(PALB2):c.3228_3244dup (p.Ser1082fs) rs786202008
NM_024675.4(PALB2):c.3228del (p.Cys1078fs) rs1555458223
NM_024675.4(PALB2):c.3231del (p.Cys1078fs)
NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter) rs886039634
NM_024675.4(PALB2):c.3238A>T (p.Lys1080Ter)
NM_024675.4(PALB2):c.3239_3240del (p.Lys1080fs) rs879254060
NM_024675.4(PALB2):c.3241G>T (p.Glu1081Ter)
NM_024675.4(PALB2):c.3242_3245del (p.Glu1081fs)
NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer) rs886039503
NM_024675.4(PALB2):c.3246_3247del (p.Ser1082fs) rs876658136
NM_024675.4(PALB2):c.3247_3248insT (p.Glu1083fs)
NM_024675.4(PALB2):c.3247_3253dup (p.Leu1085Ter)
NM_024675.4(PALB2):c.3248_3251del (p.Glu1083fs) rs1966510953
NM_024675.4(PALB2):c.3249_3253delinsAGCC rs1567206909
NM_024675.4(PALB2):c.3249_3258del (p.Ser1084fs) rs2142273197
NM_024675.4(PALB2):c.3256del (p.Arg1086fs) rs1057517600
NM_024675.4(PALB2):c.3263del (p.Pro1088fs) rs1966509881
NM_024675.4(PALB2):c.3264del (p.Val1089fs)
NM_024675.4(PALB2):c.3267_3268del (p.Phe1090fs) rs587781890
NM_024675.4(PALB2):c.326del (p.Pro109fs) rs2142445986
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter) rs864622138
NM_024675.4(PALB2):c.3272dup (p.Leu1092fs)
NM_024675.4(PALB2):c.3285delinsGTTAATG (p.Ile1095delinsMetLeuMet)
NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs) rs587782337
NM_024675.4(PALB2):c.3291_3300delinsACG (p.Lys1098fs)
NM_024675.4(PALB2):c.3291del (p.Lys1098fs)
NM_024675.4(PALB2):c.3293_3296dup (p.Thr1100fs)
NM_024675.4(PALB2):c.3295_3305del (p.Thr1099fs)
NM_024675.4(PALB2):c.3295_3310delinsCGTGGT (p.Thr1099fs) rs1966506715
NM_024675.4(PALB2):c.3296del (p.Thr1099fs) rs1966508003
NM_024675.4(PALB2):c.3296dup (p.Thr1100fs)
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs) rs1567206823
NM_024675.4(PALB2):c.3297_3301del (p.Thr1100fs) rs1567206813
NM_024675.4(PALB2):c.3298_3305dup (p.Ser1102fs)
NM_024675.4(PALB2):c.3298_3307del (p.Thr1100fs)
NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs) rs1555458187
NM_024675.4(PALB2):c.3302_3303del (p.Leu1101fs) rs1567206804
NM_024675.4(PALB2):c.3302_3306dup (p.Val1103fs)
NM_024675.4(PALB2):c.3305_3306insACGCTCAG (p.Ser1102fs) rs2142272095
NM_024675.4(PALB2):c.3313dup (p.Val1105fs)
NM_024675.4(PALB2):c.3323_3327del (p.Tyr1108fs)
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter) rs1218512317
NM_024675.4(PALB2):c.3332del (p.Pro1111fs) rs1597066595
NM_024675.4(PALB2):c.3333_3337delinsCCA (p.Pro1112fs)
NM_024675.4(PALB2):c.3333del (p.Pro1112fs)
NM_024675.4(PALB2):c.3339del (p.Gln1114fs)
NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter) rs1567206756
NM_024675.4(PALB2):c.3347_3348del (p.Gly1116fs)
NM_024675.4(PALB2):c.3350+1G>A rs864622192
NM_024675.4(PALB2):c.3350+4A>G rs180177136
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_024675.4(PALB2):c.3351-1G>A rs1597062406
NM_024675.4(PALB2):c.3358G>T (p.Glu1120Ter) rs876658773
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.3374_3395del (p.Asp1125fs) rs876660574
NM_024675.4(PALB2):c.3386_3399dup (p.Ser1134delinsGlnGlnSerTer)
NM_024675.4(PALB2):c.338del (p.Pro113fs) rs1555461825
NM_024675.4(PALB2):c.3394_3395del (p.Leu1132fs)
NM_024675.4(PALB2):c.3395T>A (p.Leu1132Ter) rs1597062296
NM_024675.4(PALB2):c.3395_3402dup (p.Gly1135Ter)
NM_024675.4(PALB2):c.3396_3405del (p.Thr1133fs) rs876660492
NM_024675.4(PALB2):c.33T>A (p.Cys11Ter)
NM_024675.4(PALB2):c.3403G>T (p.Gly1135Ter)
NM_024675.4(PALB2):c.3407del (p.Thr1136fs)
NM_024675.4(PALB2):c.3411del (p.Ile1137fs)
NM_024675.4(PALB2):c.3412del (p.Ala1138fs)
NM_024675.4(PALB2):c.3419G>A (p.Trp1140Ter)
NM_024675.4(PALB2):c.3420G>A (p.Trp1140Ter) rs878855118
NM_024675.4(PALB2):c.3425T>A (p.Leu1142Ter) rs1555457878
NM_024675.4(PALB2):c.3425T>G (p.Leu1142Ter) rs1555457878
NM_024675.4(PALB2):c.3425del (p.Leu1142fs) rs1057517563
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs) rs587776424
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs) rs587776425
NM_024675.4(PALB2):c.3432del (p.Gly1145fs)
NM_024675.4(PALB2):c.3433_3436del (p.Gly1145fs)
NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter) rs879254033
NM_024675.4(PALB2):c.343G>T (p.Gly115Ter) rs1597099523
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter) rs1555457867
NM_024675.4(PALB2):c.3452_3454delinsCT (p.Leu1151fs)
NM_024675.4(PALB2):c.3455del (p.Pro1152fs) rs1597062083
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs) rs587776426
NM_024675.4(PALB2):c.3464_3465del (p.Val1154_Ser1155insTer) rs2142253220
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter) rs1597062038
NM_024675.4(PALB2):c.3475del (p.Trp1159fs) rs2142252950
NM_024675.4(PALB2):c.3476G>A (p.Trp1159Ter) rs587782050
NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter) rs1597061983
NM_024675.4(PALB2):c.347T>A (p.Leu116Ter) rs876660465
NM_024675.4(PALB2):c.347dup (p.Leu116fs)
NM_024675.4(PALB2):c.3483del (p.Phe1161fs) rs2142252781
NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter) rs879254113
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter) rs587782217
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter) rs773829275
NM_024675.4(PALB2):c.3494dup (p.Thr1167fs) rs2142252484
NM_024675.4(PALB2):c.3497_3498del (p.Gly1166fs) rs587776427
NM_024675.4(PALB2):c.3498_3502del (p.Thr1167fs) rs2142252096
NM_024675.4(PALB2):c.3501_3502insTGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGGTCGGGTACA (p.Asp1168delinsTrpProGlyAlaValAlaHisAlaCysSerProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer) rs2142252136
NM_024675.4(PALB2):c.3501_3504del (p.Asp1168fs) rs2142251992
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter) rs1555457841
NM_024675.4(PALB2):c.3528_3540del (p.Lys1176fs) rs2142251164
NM_024675.4(PALB2):c.3537_3547delinsAATGTAG (p.Asn1179_Tyr1183delinsLysMetTer)
NM_024675.4(PALB2):c.3542_3543dup (p.Val1182fs) rs1567204928
NM_024675.4(PALB2):c.3543del (p.Phe1181fs) rs1567204928
NM_024675.4(PALB2):c.3544_3545insA (p.Val1182fs)
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.355del (p.Gln119fs) rs1060502760
NM_024675.4(PALB2):c.35del (p.Glu12fs) rs876659063
NM_024675.4(PALB2):c.373C>T (p.Gln125Ter)
NM_024675.4(PALB2):c.373del (p.Gln125fs)
NM_024675.4(PALB2):c.37G>T (p.Glu13Ter) rs373287455
NM_024675.4(PALB2):c.390del (p.His130fs) rs2142444567
NM_024675.4(PALB2):c.396_397del (p.Val132_Ser133insTer) rs1567222943
NM_024675.4(PALB2):c.3G>A (p.Met1Ile) rs1057517585
NM_024675.4(PALB2):c.412G>T (p.Glu138Ter)
NM_024675.4(PALB2):c.413_414dup (p.Gln139fs)
NM_024675.4(PALB2):c.419del (p.Lys140fs) rs1597099331
NM_024675.4(PALB2):c.419dup (p.Gln141fs) rs1597099331
NM_024675.4(PALB2):c.420del (p.Lys140fs) rs2142443848
NM_024675.4(PALB2):c.421C>T (p.Gln141Ter) rs886039686
NM_024675.4(PALB2):c.421del (p.Gln141fs)
NM_024675.4(PALB2):c.425del (p.Lys142fs) rs2142443741
NM_024675.4(PALB2):c.438_450del (p.Arg146fs) rs2142443124
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter) rs730881884
NM_024675.4(PALB2):c.442A>T (p.Lys148Ter)
NM_024675.4(PALB2):c.442_457dup (p.Arg153fs) rs1555461790
NM_024675.4(PALB2):c.443_446del (p.Lys148fs)
NM_024675.4(PALB2):c.444_445del (p.Lys149fs) rs757860709
NM_024675.4(PALB2):c.444del (p.Lys149fs) rs1555461796
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter) rs587776407
NM_024675.4(PALB2):c.454A>T (p.Lys152Ter)
NM_024675.4(PALB2):c.466_467del (p.Ile156fs) rs876659405
NM_024675.4(PALB2):c.470C>A (p.Ser157Ter)
NM_024675.4(PALB2):c.472C>T (p.Gln158Ter) rs879254197
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter) rs1555461788
NM_024675.4(PALB2):c.481_482del (p.Asp161fs) rs1597099149
NM_024675.4(PALB2):c.487_488del (p.Val163fs) rs745533713
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.49-1123C>G rs2142467185
NM_024675.4(PALB2):c.500_513del (p.Asp167fs) rs876660719
NM_024675.4(PALB2):c.502dup (p.Ser168fs) rs1555461777
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter) rs515726122
NM_024675.4(PALB2):c.503C>G (p.Ser168Ter) rs515726122
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.50T>A (p.Leu17Ter)
NM_024675.4(PALB2):c.50T>G (p.Leu17Ter) rs1567224232
NM_024675.4(PALB2):c.512T>A (p.Leu171Ter) rs876658979
NM_024675.4(PALB2):c.514_517del (p.Ser172fs) rs1555461765
NM_024675.4(PALB2):c.519del (p.Arg175fs)
NM_024675.4(PALB2):c.521_522insCA (p.Lys174fs) rs1597098996
NM_024675.4(PALB2):c.523del (p.Arg175fs)
NM_024675.4(PALB2):c.524delinsAT (p.Arg175fs)
NM_024675.4(PALB2):c.527_531del (p.Leu176fs) rs1597098971
NM_024675.4(PALB2):c.532G>T (p.Glu178Ter)
NM_024675.4(PALB2):c.532del (p.Glu178fs) rs1567222725
NM_024675.4(PALB2):c.535C>T (p.Gln179Ter) rs730881903
NM_024675.4(PALB2):c.538G>T (p.Glu180Ter) rs750782778
NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glu180Ter) rs1597098943
NM_024675.4(PALB2):c.541G>T (p.Glu181Ter) rs864622280
NM_024675.4(PALB2):c.544del (p.Ile182fs) rs886039614
NM_024675.4(PALB2):c.547del (p.Ser183fs) rs2142440747
NM_024675.4(PALB2):c.548del (p.Ser183fs) rs1064795953
NM_024675.4(PALB2):c.552del (p.Ser184fs) rs1060502738
NM_024675.4(PALB2):c.557dup (p.Asn186fs) rs1555461727
NM_024675.4(PALB2):c.55G>T (p.Glu19Ter)
NM_024675.4(PALB2):c.562del (p.Ala188fs)
NM_024675.4(PALB2):c.569_572delinsTTTTGT (p.Ser190fs)
NM_024675.4(PALB2):c.56_57insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCGAAATTAGCATTCTT (p.Glu19delinsAspPhePhePhePhePhePheXaaXaaXaaXaaArgAspGlyValSerProCysTer) rs2142461122
NM_024675.4(PALB2):c.580_584del (p.Glu194fs)
NM_024675.4(PALB2):c.583del (p.Glu194_Ile195insTer)
NM_024675.4(PALB2):c.58A>T (p.Lys20Ter) rs2142461082
NM_024675.4(PALB2):c.593del (p.His198fs)
NM_024675.4(PALB2):c.595del (p.Leu199fs) rs2142439618
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer) rs587782081
NM_024675.4(PALB2):c.599dup (p.Leu200fs)
NM_024675.4(PALB2):c.601dup (p.Ser201fs) rs886041220
NM_024675.4(PALB2):c.609del (p.Lys203fs)
NM_024675.4(PALB2):c.620del (p.Pro207fs) rs1555461704
NM_024675.4(PALB2):c.625del (p.Ser209fs) rs1597098739
NM_024675.4(PALB2):c.62del (p.Lys20_Leu21insTer)
NM_024675.4(PALB2):c.635del (p.Pro212fs) rs1555461697
NM_024675.4(PALB2):c.639del (p.Thr214fs) rs1555461695
NM_024675.4(PALB2):c.640dup (p.Thr214fs)
NM_024675.4(PALB2):c.643G>T (p.Glu215Ter) rs1555461693
NM_024675.4(PALB2):c.646del (p.Ile216fs) rs1597098679
NM_024675.4(PALB2):c.652G>T (p.Glu218Ter) rs2142438340
NM_024675.4(PALB2):c.654del (p.Asp219fs) rs587781697
NM_024675.4(PALB2):c.658del (p.Ser220fs) rs876659328
NM_024675.4(PALB2):c.661_662del (p.Val221fs)
NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter) rs587782531
NM_024675.4(PALB2):c.665T>A (p.Leu222Ter) rs2142437926
NM_024675.4(PALB2):c.674dup (p.Thr226fs) rs1967030083
NM_024675.4(PALB2):c.682del (p.Gln228fs) rs1567222523
NM_024675.4(PALB2):c.688G>T (p.Glu230Ter) rs730881905
NM_024675.4(PALB2):c.691A>T (p.Lys231Ter) rs2142437289
NM_024675.4(PALB2):c.693del (p.Gly232fs) rs875989791
NM_024675.4(PALB2):c.693dup (p.Gly232fs) rs875989791
NM_024675.4(PALB2):c.695del (p.Gly232fs) rs1060502769
NM_024675.4(PALB2):c.696dup (p.Val233fs) rs1967028249
NM_024675.4(PALB2):c.697del (p.Val233fs) rs180177090
NM_024675.4(PALB2):c.703dup (p.Thr235fs) rs1967027806
NM_024675.4(PALB2):c.707dup (p.Leu237fs) rs876658192
NM_024675.4(PALB2):c.712A>T (p.Arg238Ter) rs779278389
NM_024675.4(PALB2):c.715A>T (p.Arg239Ter)
NM_024675.4(PALB2):c.715del (p.Arg239fs) rs1567222476
NM_024675.4(PALB2):c.71_72insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCGAAATTAGCATTCTT (p.Leu24delinsPhePhePhePhePhePhePheXaaXaaXaaXaaArgAspGlyValSerProCysTer) rs2142460813
NM_024675.4(PALB2):c.722_750del (p.Asn241fs)
NM_024675.4(PALB2):c.726_727insTTAGGTCTGTAGA (p.Thr243delinsLeuGlyLeuTer) rs1451309159
NM_024675.4(PALB2):c.72del (p.Arg26fs) rs180177142
NM_024675.4(PALB2):c.734_735dup (p.Thr246fs) rs749731838
NM_024675.4(PALB2):c.734del (p.Ala245fs) rs2142436112
NM_024675.4(PALB2):c.73A>T (p.Lys25Ter) rs1248579792
NM_024675.4(PALB2):c.756dup (p.Leu253fs) rs1967023691
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024675.4(PALB2):c.758_759insG (p.Ser254fs) rs2142435343
NM_024675.4(PALB2):c.758_761delinsGAT (p.Leu253fs)
NM_024675.4(PALB2):c.759_760del (p.Ser254fs)
NM_024675.4(PALB2):c.759del (p.Ser254fs) rs1060499830
NM_024675.4(PALB2):c.759dup (p.Ser254fs) rs1967023129
NM_024675.4(PALB2):c.761C>A (p.Ser254Ter) rs864622695
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter) rs864622695
NM_024675.4(PALB2):c.761del (p.Leu253_Ser254insTer) rs2142435242
NM_024675.4(PALB2):c.76del (p.Arg26fs) rs1597101885
NM_024675.4(PALB2):c.770del (p.Gly257fs) rs1555461634
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter) rs1555461627
NM_024675.4(PALB2):c.778_779insCC (p.Gln260fs) rs2142434725
NM_024675.4(PALB2):c.779dup (p.His261fs)
NM_024675.4(PALB2):c.782_783del (p.His261fs) rs1967021173
NM_024675.4(PALB2):c.782dup (p.His261fs)
NM_024675.4(PALB2):c.786del (p.Glu263fs) rs730881870
NM_024675.4(PALB2):c.787G>T (p.Glu263Ter) rs2142434483
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter) rs878855123
NM_024675.4(PALB2):c.801_802dup (p.Lys268fs) rs1555461618
NM_024675.4(PALB2):c.816_825dup (p.His276fs) rs2142433539
NM_024675.4(PALB2):c.820dup (p.Thr274fs) rs1555461611
NM_024675.4(PALB2):c.821del (p.Thr274fs)
NM_024675.4(PALB2):c.825del (p.His276fs) rs2142433522
NM_024675.4(PALB2):c.828del (p.His276fs)
NM_024675.4(PALB2):c.829_832del (p.His276_Asp277insTer) rs1555461602
NM_024675.4(PALB2):c.832del (p.Asp277_Leu278insTer) rs1597098138
NM_024675.4(PALB2):c.833del (p.Leu278fs)
NM_024675.4(PALB2):c.833dup (p.Asn280fs)
NM_024675.4(PALB2):c.838_839del (p.Asn280fs)
NM_024675.4(PALB2):c.839del (p.Asn280fs) rs1555461597
NM_024675.4(PALB2):c.839dup (p.Asn280fs) rs1555461597
NM_024675.4(PALB2):c.841del (p.Ile281fs) rs1555461595
NM_024675.4(PALB2):c.844_847del (p.Arg282fs) rs1555461586
NM_024675.4(PALB2):c.849_850insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAACATTAGATTT (p.Thr284fs)
NM_024675.4(PALB2):c.849del (p.Phe283fs) rs2142432863
NM_024675.4(PALB2):c.84C>A (p.Tyr28Ter) rs761533286
NM_024675.4(PALB2):c.84C>G (p.Tyr28Ter) rs761533286
NM_024675.4(PALB2):c.84_85del (p.Tyr28_Ser29delinsTer)
NM_024675.4(PALB2):c.850_866del (p.Thr284fs)
NM_024675.4(PALB2):c.854C>A (p.Ser285Ter)
NM_024675.4(PALB2):c.854del (p.Ser285fs)
NM_024675.4(PALB2):c.860dup (p.Ser288fs) rs864622301
NM_024675.4(PALB2):c.866T>A (p.Leu289Ter) rs1555461574
NM_024675.4(PALB2):c.868G>T (p.Glu290Ter) rs1567222143
NM_024675.4(PALB2):c.869del (p.Glu290fs)
NM_024675.4(PALB2):c.874C>T (p.Gln292Ter)
NM_024675.4(PALB2):c.879del (p.Lys295_Met296insTer) rs2142432244
NM_024675.4(PALB2):c.87dup (p.Lys30fs)
NM_024675.4(PALB2):c.880A>T (p.Lys294Ter) rs753676934
NM_024675.4(PALB2):c.885_886del (p.Lys295fs)
NM_024675.4(PALB2):c.885_886insG (p.Met296fs) rs1597097936
NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer) rs587776408
NM_024675.4(PALB2):c.886dup (p.Met296fs) rs587776408
NM_024675.4(PALB2):c.887del (p.Met296fs) rs2142432029
NM_024675.4(PALB2):c.892_893del (p.Val298fs) rs2142431841
NM_024675.4(PALB2):c.896_897del (p.Ser299fs) rs1967011347
NM_024675.4(PALB2):c.898del (p.Thr300fs)
NM_024675.4(PALB2):c.899del (p.Thr300fs) rs1555461558
NM_024675.4(PALB2):c.901_902del (p.Thr300_Asp301insTer) rs2142431560
NM_024675.4(PALB2):c.901_907del (p.Asp301fs) rs1555461551
NM_024675.4(PALB2):c.909_917delinsT (p.Leu303_Leu304insTer)
NM_024675.4(PALB2):c.910del (p.Leu304_Val305insTer)
NM_024675.4(PALB2):c.931A>T (p.Lys311Ter) rs1060499831
NM_024675.4(PALB2):c.932_933insC (p.Lys311fs) rs1060502772
NM_024675.4(PALB2):c.934dup (p.Ser312fs)
NM_024675.4(PALB2):c.93_94dup (p.Leu32fs)
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_024675.4(PALB2):c.944_950del (p.Leu315fs)
NM_024675.4(PALB2):c.945_954del (p.Pro316fs)
NM_024675.4(PALB2):c.948del (p.Thr317fs) rs730881871
NM_024675.4(PALB2):c.952del (p.Ser318fs)
NM_024675.4(PALB2):c.953_954del (p.Ser318fs) rs1060502800
NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer) rs587776409
NM_024675.4(PALB2):c.962T>G (p.Leu321Ter)
NM_024675.4(PALB2):c.962del (p.Asn320_Leu321insTer)
NM_024675.4(PALB2):c.964G>T (p.Glu322Ter)
NM_024675.4(PALB2):c.976dup (p.Ser326fs) rs1555461517
NM_024675.4(PALB2):c.984_986delinsC (p.Leu329fs)
NM_024675.4(PALB2):c.985_986del (p.Leu329fs) rs1555461514
NM_024675.4(PALB2):c.986_987dup (p.Asn330Ter) rs2142429230
NM_024675.4(PALB2):c.991G>T (p.Glu331Ter)
NM_024675.4(PALB2):c.995_996del (p.Leu332fs) rs1567221851
NM_032043.2(BRIP1):c.1474-?_1628+?del
NM_032043.2(BRIP1):c.196delinsCTC (p.Ser66fs) rs1555618375
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs) rs1555580957
NM_032043.2(BRIP1):c.630_637delCCCTGGCC rs1603347058
NM_032043.3(BRIP1):c.-31+498_187del
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter) rs1555607749
NM_032043.3(BRIP1):c.1005G>A (p.Trp335Ter) rs786201808
NM_032043.3(BRIP1):c.100dup (p.Arg34fs)
NM_032043.3(BRIP1):c.1015G>T (p.Glu339Ter)
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs) rs878855134
NM_032043.3(BRIP1):c.1030_1049del (p.Gly344fs)
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter) rs373104267
NM_032043.3(BRIP1):c.1048del (p.Cys350fs)
NM_032043.3(BRIP1):c.1052_1055dup (p.Tyr353fs) rs1603343235
NM_032043.3(BRIP1):c.1058dup (p.Tyr353Ter) rs2145335621
NM_032043.3(BRIP1):c.1069G>T (p.Glu357Ter) rs769081927
NM_032043.3(BRIP1):c.106_107insG (p.Leu36fs)
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs) rs1567831649
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs) rs2145334953
NM_032043.3(BRIP1):c.1078C>T (p.Gln360Ter) rs2145334576
NM_032043.3(BRIP1):c.107T>A (p.Leu36Ter)
NM_032043.3(BRIP1):c.1101del (p.Tyr369fs)
NM_032043.3(BRIP1):c.1104del (p.Tyr369fs)
NM_032043.3(BRIP1):c.1107C>A (p.Tyr369Ter) rs1489355776
NM_032043.3(BRIP1):c.1107C>G (p.Tyr369Ter) rs1489355776
NM_032043.3(BRIP1):c.1109_1110dup (p.Tyr371fs) rs1567831477
NM_032043.3(BRIP1):c.1111del (p.Tyr371fs)
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs) rs587783377
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter) rs1028347439
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs) rs587780224
NM_032043.3(BRIP1):c.112dup (p.Ser38fs) rs2078951497
NM_032043.3(BRIP1):c.1138del (p.Ser380fs) rs2077985927
NM_032043.3(BRIP1):c.1140dup (p.Met381fs)
NM_032043.3(BRIP1):c.1141del (p.Met381fs)
NM_032043.3(BRIP1):c.1142dup (p.Met381fs)
NM_032043.3(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer) rs1603342339
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter) rs730881635
NM_032043.3(BRIP1):c.1158del (p.Glu387fs) rs2145309797
NM_032043.3(BRIP1):c.1158dup (p.Glu387fs)
NM_032043.3(BRIP1):c.1159G>T (p.Glu387Ter)
NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter) rs1304655615
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
NM_032043.3(BRIP1):c.1182dup (p.Ala395fs)
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)
NM_032043.3(BRIP1):c.1191_1197dup (p.Asp400fs) rs2145307730
NM_032043.3(BRIP1):c.1196_1197del (p.Glu399fs) rs2077951770
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs) rs730881647
NM_032043.3(BRIP1):c.1203_1204del (p.Ala402fs)
NM_032043.3(BRIP1):c.1222dup (p.Tyr408fs) rs1603342258
NM_032043.3(BRIP1):c.1228del (p.Ser409_Val410insTer)
NM_032043.3(BRIP1):c.1229dup (p.Thr411fs)
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs) rs1064795649
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.3(BRIP1):c.1240_1244dup (p.Arg416fs) rs2077949826
NM_032043.3(BRIP1):c.1251dup (p.Ala418fs)
NM_032043.3(BRIP1):c.1256_1278dup (p.Asn427delinsGlyMetAsnTer) rs2077948208
NM_032043.3(BRIP1):c.1261del (p.Glu421fs)
NM_032043.3(BRIP1):c.1270_1271del (p.Ser424fs) rs2145303552
NM_032043.3(BRIP1):c.1287_1291del (p.Asn429fs)
NM_032043.3(BRIP1):c.1289_1290dup (p.Arg431Ter) rs2145302423
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs) rs1064794202
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
NM_032043.3(BRIP1):c.1291del (p.Arg431fs)
NM_032043.3(BRIP1):c.1293del (p.Lys432fs)
NM_032043.3(BRIP1):c.1294A>T (p.Lys432Ter) rs1555607070
NM_032043.3(BRIP1):c.1299_1302del (p.Lys433fs) rs2077947183
NM_032043.3(BRIP1):c.1312del (p.Leu438fs) rs1064795413
NM_032043.3(BRIP1):c.1326C>A (p.Cys442Ter) rs2145300052
NM_032043.3(BRIP1):c.132_139delinsTTTCCACTT (p.Leu44fs)
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.3(BRIP1):c.1344G>A (p.Trp448Ter)
NM_032043.3(BRIP1):c.1356_1371del (p.Asn452fs) rs2145243883
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter) rs1555605955
NM_032043.3(BRIP1):c.1378_1379del (p.Asp460fs) rs2145243385
NM_032043.3(BRIP1):c.1383T>G (p.Tyr461Ter) rs587780875
NM_032043.3(BRIP1):c.1384G>T (p.Glu462Ter)
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter) rs2145242325
NM_032043.3(BRIP1):c.1404G>A (p.Trp468Ter)
NM_032043.3(BRIP1):c.1404dup (p.Ser469fs)
NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter) rs1555605902
NM_032043.3(BRIP1):c.1417del (p.Met473fs) rs2145241576
NM_032043.3(BRIP1):c.141del (p.Thr48fs) rs587782065
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032043.3(BRIP1):c.1426del (p.Thr476fs)
NM_032043.3(BRIP1):c.1426dup (p.Thr476fs)
NM_032043.3(BRIP1):c.1442_1443dup (p.Ile482fs) rs2077853451
NM_032043.3(BRIP1):c.1443dup (p.Ile482fs)
NM_032043.3(BRIP1):c.1450dup (p.Thr484fs)
NM_032043.3(BRIP1):c.1457del (p.Thr486fs) rs2145239498
NM_032043.3(BRIP1):c.1457dup (p.Pro488fs) rs2145239459
NM_032043.3(BRIP1):c.1462_1465del (p.Pro488fs) rs1603340281
NM_032043.3(BRIP1):c.1469del (p.Leu490fs)
NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)
NM_032043.3(BRIP1):c.1471del (p.Gln491fs)
NM_032043.3(BRIP1):c.1474-1G>A rs1555603638
NM_032043.3(BRIP1):c.1474G>T (p.Gly492Ter)
NM_032043.3(BRIP1):c.1483dup (p.Ser495fs) rs1555603622
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs) rs747214372
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter) rs1060501739
NM_032043.3(BRIP1):c.14G>A (p.Trp5Ter) rs1555618738
NM_032043.3(BRIP1):c.1500dup (p.Glu501fs)
NM_032043.3(BRIP1):c.1504G>T (p.Glu502Ter)
NM_032043.3(BRIP1):c.1510del (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1529_1530del (p.Lys510fs)
NM_032043.3(BRIP1):c.1531G>T (p.Glu511Ter)
NM_032043.3(BRIP1):c.1534G>T (p.Glu512Ter) rs1603336980
NM_032043.3(BRIP1):c.1537del (p.Ala513fs) rs1567816997
NM_032043.3(BRIP1):c.1543del (p.Glu515fs) rs1064793812
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
NM_032043.3(BRIP1):c.1582_1584delinsG (p.Lys528fs)
NM_032043.3(BRIP1):c.1584del (p.Gly529fs)
NM_032043.3(BRIP1):c.1585G>T (p.Gly529Ter)
NM_032043.3(BRIP1):c.158del (p.Ser53fs)
NM_032043.3(BRIP1):c.1592_1598del (p.Phe531fs)
NM_032043.3(BRIP1):c.1594del (p.Met532fs)
NM_032043.3(BRIP1):c.1598_1599dup (p.Leu534fs)
NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter) rs2078973424
NM_032043.3(BRIP1):c.1602_1606delinsC (p.Asp535fs)
NM_032043.3(BRIP1):c.1603_1606del (p.Asp535fs) rs2145135739
NM_032043.3(BRIP1):c.1608del (p.Leu537fs) rs2145135618
NM_032043.3(BRIP1):c.1614del (p.Phe538fs) rs2077667669
NM_032043.3(BRIP1):c.1618C>T (p.Gln540Ter) rs1603336897
NM_032043.3(BRIP1):c.161T>G (p.Leu54Ter) rs2078949879
NM_032043.3(BRIP1):c.1622del (p.Asn541fs) rs1603336895
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.1645_1649dup (p.Ala551fs) rs1555602638
NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter) rs777217004
NM_032043.3(BRIP1):c.1661del (p.Gln554fs) rs749762964
NM_032043.3(BRIP1):c.1662_1663del (p.Gln554fs) rs1603334758
NM_032043.3(BRIP1):c.1666_1669dup (p.Ser557fs) rs2077611091
NM_032043.3(BRIP1):c.1673G>A (p.Trp558Ter)
NM_032043.3(BRIP1):c.1674G>A (p.Trp558Ter) rs2145095898
NM_032043.3(BRIP1):c.1678_1682del (p.Asn560fs)
NM_032043.3(BRIP1):c.1683_1684del (p.Gln561fs) rs2077610620
NM_032043.3(BRIP1):c.1686del (p.Ile562fs)
NM_032043.3(BRIP1):c.168_171del (p.Leu56fs) rs1603367673
NM_032043.3(BRIP1):c.1694C>A (p.Ser565Ter) rs1603334619
NM_032043.3(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Asp566_Lys567insIleSerAsnTer) rs878855140
NM_032043.3(BRIP1):c.1697del (p.Asp566fs) rs2077609777
NM_032043.3(BRIP1):c.1699A>T (p.Lys567Ter) rs2145094630
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.3(BRIP1):c.1702_1703delinsT (p.Asn568fs)
NM_032043.3(BRIP1):c.1703del (p.Asn568fs)
NM_032043.3(BRIP1):c.1707del (p.Leu570fs) rs2077609211
NM_032043.3(BRIP1):c.1709T>A (p.Leu570Ter) rs2077609103
NM_032043.3(BRIP1):c.1727del (p.Asn576fs)
NM_032043.3(BRIP1):c.1727dup (p.Asn576fs) rs587778131
NM_032043.3(BRIP1):c.1734del (p.Lys578fs)
NM_032043.3(BRIP1):c.1734dup (p.Arg579fs)
NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter) rs1356014648
NM_032043.3(BRIP1):c.173dup (p.Cys58fs)
NM_032043.3(BRIP1):c.1744C>T (p.Gln582Ter)
NM_032043.3(BRIP1):c.1758del (p.His587fs)
NM_032043.3(BRIP1):c.1759del (p.His587fs)
NM_032043.3(BRIP1):c.176_180delinsTTGCAGTTACAAAACAAAGCATGGCAACAATCTC (p.Ser59fs)
NM_032043.3(BRIP1):c.1770_1771delinsA (p.Asn590fs)
NM_032043.3(BRIP1):c.1770del (p.Trp592fs) rs2145091141
NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter) rs753023295
NM_032043.3(BRIP1):c.1781T>G (p.Leu594Ter)
NM_032043.3(BRIP1):c.1791del (p.Val598fs) rs1567813223
NM_032043.3(BRIP1):c.1801del (p.Ser601fs) rs2145081748
NM_032043.3(BRIP1):c.1802C>A (p.Ser601Ter)
NM_032043.3(BRIP1):c.1803del (p.Asp602fs)
NM_032043.3(BRIP1):c.180_181insGTTACAAAACAAAGCATGGCAACAATCTC (p.Leu61fs) rs2145850255
NM_032043.3(BRIP1):c.182T>G (p.Leu61Ter)
NM_032043.3(BRIP1):c.1831del (p.Val611fs) rs1567812616
NM_032043.3(BRIP1):c.1850T>A (p.Leu617Ter)
NM_032043.3(BRIP1):c.1850del (p.Leu617fs)
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.3(BRIP1):c.1870del (p.Ser624fs)
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs) rs763818712
NM_032043.3(BRIP1):c.1889del (p.Thr630fs) rs1064793626
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter) rs1603367649
NM_032043.3(BRIP1):c.1892_1893del (p.Phe631fs)
NM_032043.3(BRIP1):c.189G>A (p.Trp63Ter) rs1603367647
NM_032043.3(BRIP1):c.1900C>T (p.Gln634Ter)
NM_032043.3(BRIP1):c.190C>T (p.Gln64Ter) rs2145849937
NM_032043.3(BRIP1):c.1911dup (p.Asn638Ter)
NM_032043.3(BRIP1):c.1918_1919del (p.Ile640fs) rs1555602127
NM_032043.3(BRIP1):c.1928del (p.Asn643fs)
NM_032043.3(BRIP1):c.1931C>A (p.Ser644Ter)
NM_032043.3(BRIP1):c.1935+1del rs2077594062
NM_032043.3(BRIP1):c.1936del rs1567809140
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter) rs786202760
NM_032043.3(BRIP1):c.1948_1957del (p.Thr650fs) rs2077537479
NM_032043.3(BRIP1):c.1959_1960dup (p.Gly654fs) rs2145033356
NM_032043.3(BRIP1):c.1961delinsAATGGTTTGGTACCATTGGGTCAGAATTGGGTCCGA (p.Gly654fs)
NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)
NM_032043.3(BRIP1):c.1967dup (p.Arg658fs) rs2077537050
NM_032043.3(BRIP1):c.1970del (p.Gly657fs) rs760782298
NM_032043.3(BRIP1):c.1974dup (p.Asn659fs) rs2145032405
NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter) rs1603328780
NM_032043.3(BRIP1):c.2002G>T (p.Glu668Ter) rs2145031089
NM_032043.3(BRIP1):c.200_201dup (p.Ser68fs) rs1555618374
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter) rs775537066
NM_032043.3(BRIP1):c.2012_2013insAAAT (p.Phe672fs) rs2145030551
NM_032043.3(BRIP1):c.2015delinsCC (p.Phe672fs) rs1555601094
NM_032043.3(BRIP1):c.2023dup (p.Glu675fs) rs2145029870
NM_032043.3(BRIP1):c.2030del (p.Gly677fs) rs1555601064
NM_032043.3(BRIP1):c.2038_2039del (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.2038_2042del (p.Leu680fs) rs1400202829
NM_032043.3(BRIP1):c.2045_2046del (p.Ser682fs)
NM_032043.3(BRIP1):c.205+1del rs1057517648
NM_032043.3(BRIP1):c.2053del (p.Gln685fs) rs2145028011
NM_032043.3(BRIP1):c.2058dup (p.Val687fs)
NM_032043.3(BRIP1):c.2059del (p.Thr686_Val687insTer) rs2145027657
NM_032043.3(BRIP1):c.2060_2061del (p.Val687fs)
NM_032043.3(BRIP1):c.2075del (p.Leu692fs)
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs) rs1603328466
NM_032043.3(BRIP1):c.2082del (p.Leu695fs)
NM_032043.3(BRIP1):c.2085dup (p.Pro696fs) rs1060501772
NM_032043.3(BRIP1):c.2094C>G (p.Tyr698Ter) rs1603328406
NM_032043.3(BRIP1):c.2097+2T>A rs2077532634
NM_032043.3(BRIP1):c.2099T>A (p.Leu700Ter)
NM_032043.3(BRIP1):c.2102T>A (p.Leu701Ter)
NM_032043.3(BRIP1):c.2102T>G (p.Leu701Ter) rs876658270
NM_032043.3(BRIP1):c.2103del (p.Glu702fs) rs2144701568
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs) rs786203384
NM_032043.3(BRIP1):c.2109del (p.Lys703fs) rs2144701307
NM_032043.3(BRIP1):c.2109dup (p.Leu704fs)
NM_032043.3(BRIP1):c.210del (p.Lys70fs) rs1555617925
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter) rs1057517643
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.2120del (p.Arg707fs)
NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)
NM_032043.3(BRIP1):c.2124G>A (p.Trp708Ter)
NM_032043.3(BRIP1):c.2133del (p.Gly712fs) rs1567781543
NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter) rs878855145
NM_032043.3(BRIP1):c.2143_2163delinsTTCT (p.His715fs)
NM_032043.3(BRIP1):c.2156del (p.Leu719fs)
NM_032043.3(BRIP1):c.2166del (p.Val723fs)
NM_032043.3(BRIP1):c.2166dup (p.Val723fs)
NM_032043.3(BRIP1):c.2169del (p.Ile724fs)
NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter) rs1296238058
NM_032043.3(BRIP1):c.2187del (p.Gly730fs)
NM_032043.3(BRIP1):c.2194A>T (p.Lys732Ter)
NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs) rs2144697372
NM_032043.3(BRIP1):c.2197del (p.Thr733fs) rs2144697372
NM_032043.3(BRIP1):c.2205dup (p.Asp736Ter) rs1555591385
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter) rs1555591361
NM_032043.3(BRIP1):c.2218del (p.Gln740fs) rs1555591365
NM_032043.3(BRIP1):c.2221dup (p.Val741fs) rs1567781169
NM_032043.3(BRIP1):c.2223_2225dup (p.Tyr742Ter) rs1310861578
NM_032043.3(BRIP1):c.2226C>G (p.Tyr742Ter) rs2144696024
NM_032043.3(BRIP1):c.2229T>G (p.Tyr743Ter) rs2077030288
NM_032043.3(BRIP1):c.2234dup (p.Ile746fs)
NM_032043.3(BRIP1):c.2237_2240del (p.Ile746fs) rs587782726
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.3(BRIP1):c.2247del (p.Gly750fs)
NM_032043.3(BRIP1):c.2251_2254del (p.Glu751fs) rs1555591308
NM_032043.3(BRIP1):c.2252_2255delAGAA (p.Lys752fs)
NM_032043.3(BRIP1):c.2253_2254del (p.Lys752fs) rs1555591308
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649
NM_032043.3(BRIP1):c.2258-1G>A rs1064793887
NM_032043.3(BRIP1):c.2258-1G>T rs1064793887
NM_032043.3(BRIP1):c.227dup (p.Ser77fs)
NM_032043.3(BRIP1):c.2281del (p.Cys761fs) rs1555590521
NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs) rs2144678308
NM_032043.3(BRIP1):c.2313_2319del (p.Phe771fs) rs758128094
NM_032043.3(BRIP1):c.2315C>A (p.Ser772Ter)
NM_032043.3(BRIP1):c.2329dup (p.Arg777fs)
NM_032043.3(BRIP1):c.2334_2337dup (p.Ile780fs)
NM_032043.3(BRIP1):c.2339_2340del (p.Ile780fs)
NM_032043.3(BRIP1):c.2341del (p.Thr781fs)
NM_032043.3(BRIP1):c.2341dup (p.Thr781fs) rs1555590388
NM_032043.3(BRIP1):c.2350del (p.Ile784fs)
NM_032043.3(BRIP1):c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA (p.Val789fs)
NM_032043.3(BRIP1):c.237del (p.Ala80fs) rs2145830843
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter) rs2144384208
NM_032043.3(BRIP1):c.2389A>T (p.Lys797Ter)
NM_032043.3(BRIP1):c.2391dup (p.Arg798fs)
NM_032043.3(BRIP1):c.2400C>A (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter) rs2061855838
NM_032043.3(BRIP1):c.241del (p.Glu81fs) rs1292988272
NM_032043.3(BRIP1):c.2431_2432delinsTTC (p.Leu811fs)
NM_032043.3(BRIP1):c.243del (p.Val82fs) rs1064794890
NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)
NM_032043.3(BRIP1):c.2445_2446insGTCTTCTACC (p.Trp816fs) rs2144381014
NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter) rs786204250
NM_032043.3(BRIP1):c.2448G>A (p.Trp816Ter) rs1064795352
NM_032043.3(BRIP1):c.2448del (p.Trp816fs)
NM_032043.3(BRIP1):c.2458C>T (p.Gln820Ter) rs2061854079
NM_032043.3(BRIP1):c.2459_2460insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCTCCCTCTGATGCCGAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTCA (p.Ala821fs) rs2144380398
NM_032043.3(BRIP1):c.2466delinsACA (p.Tyr822Ter)
NM_032043.3(BRIP1):c.2467del (p.Arg823fs)
NM_032043.3(BRIP1):c.2474_2485delinsG (p.Leu825fs)
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter) rs786203898
NM_032043.3(BRIP1):c.247C>T (p.Gln83Ter)
NM_032043.3(BRIP1):c.2490dup (p.Arg831Ter)
NM_032043.3(BRIP1):c.2491del (p.Arg831fs) rs1555580769
NM_032043.3(BRIP1):c.2492_2492+5del rs1603293306
NM_032043.3(BRIP1):c.2493-1G>A rs786203451
NM_032043.3(BRIP1):c.2507_2508del (p.Arg836fs) rs2061478781
NM_032043.3(BRIP1):c.2510del (p.Asn837fs) rs2144187480
NM_032043.3(BRIP1):c.2516G>A (p.Trp839Ter)
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter) rs1555574803
NM_032043.3(BRIP1):c.2519_2520insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCANNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGATTGGGG (p.Gly840_Ala841insArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrXaaXaaXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysArgAsnAspTrpGly)
NM_032043.3(BRIP1):c.251T>A (p.Leu84Ter) rs2145830278
NM_032043.3(BRIP1):c.251del (p.Leu84fs)
NM_032043.3(BRIP1):c.2520_2521dup (p.Ala841fs)
NM_032043.3(BRIP1):c.2523_2538delinsCC (p.Leu842fs) rs1603280507
NM_032043.3(BRIP1):c.2524_2525del (p.Leu842fs) rs1555574788
NM_032043.3(BRIP1):c.2533dup (p.Val845fs)
NM_032043.3(BRIP1):c.254C>G (p.Ser85Ter) rs587781830
NM_032043.3(BRIP1):c.2558del (p.Pro853fs)
NM_032043.3(BRIP1):c.2568T>A (p.Tyr856Ter) rs370175724
NM_032043.3(BRIP1):c.2576-1G>A rs587782539
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs) rs1567732136
NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter) rs1555573497
NM_032043.3(BRIP1):c.2589_2590insTACG (p.Val864fs) rs1603277005
NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)
NM_032043.3(BRIP1):c.2599C>T (p.Gln867Ter)
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter) rs1060501766
NM_032043.3(BRIP1):c.2606del (p.Gln869fs)
NM_032043.3(BRIP1):c.2615C>A (p.Ser872Ter)
NM_032043.3(BRIP1):c.2640del (p.Leu881fs) rs1567731917
NM_032043.3(BRIP1):c.2649del (p.Glu883fs)
NM_032043.3(BRIP1):c.2656A>T (p.Lys886Ter)
NM_032043.3(BRIP1):c.2665C>T (p.Gln889Ter)
NM_032043.3(BRIP1):c.2670del (p.Val891fs) rs2144115743
NM_032043.3(BRIP1):c.2683del (p.Ser895fs)
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.3(BRIP1):c.2690del (p.Lys897fs) rs2061358219
NM_032043.3(BRIP1):c.2692del (p.Asp898fs)
NM_032043.3(BRIP1):c.26del (p.Thr9fs) rs2145865744
NM_032043.3(BRIP1):c.2705_2706del (p.Ile902fs)
NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter) rs1060501740
NM_032043.3(BRIP1):c.2714del (p.Asn905fs) rs2144114210
NM_032043.3(BRIP1):c.2716G>T (p.Glu906Ter) rs759080195
NM_032043.3(BRIP1):c.2729_2730del (p.Glu910fs) rs2144113535
NM_032043.3(BRIP1):c.2733del (p.Thr912fs)
NM_032043.3(BRIP1):c.2737del (p.Ser913fs) rs1555573386
NM_032043.3(BRIP1):c.2741del (p.Ser913_Leu914insTer) rs2144113001
NM_032043.3(BRIP1):c.2742_2749del (p.Lys915fs) rs2144112699
NM_032043.3(BRIP1):c.2754dup (p.Ser919fs)
NM_032043.3(BRIP1):c.2755delinsCC (p.Ser919fs)
NM_032043.3(BRIP1):c.2756dup (p.Pro920fs) rs1603276728
NM_032043.3(BRIP1):c.275C>G (p.Ser92Ter) rs1603366351
NM_032043.3(BRIP1):c.2763T>G (p.Tyr921Ter)
NM_032043.3(BRIP1):c.2770G>T (p.Glu924Ter)
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs) rs1295703239
NM_032043.3(BRIP1):c.2786_2789dup (p.Pro931fs) rs1295703239
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
NM_032043.3(BRIP1):c.2792del (p.Pro931fs) rs1555573327
NM_032043.3(BRIP1):c.2798dup (p.Asn933fs)
NM_032043.3(BRIP1):c.2812G>T (p.Glu938Ter) rs199643061
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter) rs140233356
NM_032043.3(BRIP1):c.2831dup (p.Glu945fs)
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter) rs863224802
NM_032043.3(BRIP1):c.2835_2838del (p.Glu945fs)
NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter) rs2061353270
NM_032043.3(BRIP1):c.2839_2840del (p.Gln947fs)
NM_032043.3(BRIP1):c.2846del (p.Pro949fs)
NM_032043.3(BRIP1):c.2864del (p.Asn955fs)
NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter) rs761639530
NM_032043.3(BRIP1):c.2893del (p.Arg965fs)
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
NM_032043.3(BRIP1):c.2902delA (p.Asn969fs)
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs) rs763009188
NM_032043.3(BRIP1):c.2916_2917del (p.Phe973fs)
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer) rs2145828926
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2950_3019del (p.Val984fs)
NM_032043.3(BRIP1):c.2962del (p.Ser988fs) rs2061324917
NM_032043.3(BRIP1):c.2979_2980insTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT (p.Phe993_Asn994insPhePhePhePhePhePhePhePheXaaXaaXaaXaaTyrGluLeuIleIlePheTyrGlyCysIleValPheHisGlyValTyrValProHisPheLeu)
NM_032043.3(BRIP1):c.297_298del (p.Met100fs)
NM_032043.3(BRIP1):c.2982del (p.Asn994fs)
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs) 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.303_309del (p.Asn101fs)
NM_032043.3(BRIP1):c.304C>T (p.Gln102Ter)
NM_032043.3(BRIP1):c.308del (p.Gly103fs) rs1555617834
NM_032043.3(BRIP1):c.30del (p.Ile10fs) rs1567878234
NM_032043.3(BRIP1):c.314C>A (p.Ser105Ter)
NM_032043.3(BRIP1):c.314C>G (p.Ser105Ter) rs1555617829
NM_032043.3(BRIP1):c.321_337del (p.Phe108fs) rs1603366250
NM_032043.3(BRIP1):c.330T>G (p.Tyr110Ter)
NM_032043.3(BRIP1):c.332dup (p.Ser112fs)
NM_032043.3(BRIP1):c.349G>T (p.Glu117Ter) rs786203890
NM_032043.3(BRIP1):c.355_362dup (p.Ser122fs) rs2145826463
NM_032043.3(BRIP1):c.356del (p.Asn119fs) rs2145826750
NM_032043.3(BRIP1):c.358_361dup (p.Thr121fs) rs1567874485
NM_032043.3(BRIP1):c.35_39del (p.Gly12fs)
NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
NM_032043.3(BRIP1):c.37dup (p.Val13fs)
NM_032043.3(BRIP1):c.386dup (p.Pro129_Glu130insTer) rs876660080
NM_032043.3(BRIP1):c.394dup (p.Thr132fs) rs587781416
NM_032043.3(BRIP1):c.396_400del (p.Thr133fs) rs1555616206
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs) rs1057520058
NM_032043.3(BRIP1):c.40A>T (p.Lys14Ter) rs1555618727
NM_032043.3(BRIP1):c.424_466del (p.Lys141_Lys142insTer)
NM_032043.3(BRIP1):c.427C>T (p.Gln143Ter)
NM_032043.3(BRIP1):c.428_447del (p.Gln143fs)
NM_032043.3(BRIP1):c.438_440delinsCT (p.Tyr147fs) rs786203429
NM_032043.3(BRIP1):c.440del (p.Tyr147fs) rs1555616176
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter) rs786203521
NM_032043.3(BRIP1):c.441C>A (p.Tyr147Ter) rs1603362622
NM_032043.3(BRIP1):c.441C>G (p.Tyr147Ter) rs1603362622
NM_032043.3(BRIP1):c.441_442del (p.Tyr147_Arg148delinsTer) rs2078779429
NM_032043.3(BRIP1):c.441_445delinsA (p.Tyr147_Asp149delinsTer)
NM_032043.3(BRIP1):c.443_446del (p.Arg148fs) rs2145763904
NM_032043.3(BRIP1):c.444del (p.Asp149fs)
NM_032043.3(BRIP1):c.448G>T (p.Glu150Ter) rs762701532
NM_032043.3(BRIP1):c.452del (p.Asn151fs)
NM_032043.3(BRIP1):c.461_462del (p.Phe154fs) rs1567868477
NM_032043.3(BRIP1):c.462dup (p.Gln155fs) rs1567868477
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter) rs587781786
NM_032043.3(BRIP1):c.463_464insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGATGATTTTC (p.Phe154_Gln155insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysGluAsnAspAspPhe)
NM_032043.3(BRIP1):c.469G>T (p.Glu157Ter)
NM_032043.3(BRIP1):c.46del (p.Tyr16fs) rs876660613
NM_032043.3(BRIP1):c.474del (p.Arg160fs) rs1603362580
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs) rs1555616143
NM_032043.3(BRIP1):c.478del (p.Arg160fs) rs1555616150
NM_032043.3(BRIP1):c.491T>G (p.Leu164Ter)
NM_032043.3(BRIP1):c.502C>T (p.Gln168Ter)
NM_032043.3(BRIP1):c.502del (p.Gln168fs)
NM_032043.3(BRIP1):c.503dup (p.Gln169fs)
NM_032043.3(BRIP1):c.505C>T (p.Gln169Ter)
NM_032043.3(BRIP1):c.505_506insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAACTACACAGC (p.Gln169delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer) rs2145761401
NM_032043.3(BRIP1):c.507+1G>T rs2145761239
NM_032043.3(BRIP1):c.508-1G>C rs864622277
NM_032043.3(BRIP1):c.508-2A>G rs876659707
NM_032043.3(BRIP1):c.511A>T (p.Arg171Ter)
NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter) rs1060501765
NM_032043.3(BRIP1):c.51_55del (p.Phe17fs)
NM_032043.3(BRIP1):c.526_536del (p.Phe176fs)
NM_032043.3(BRIP1):c.532del (p.Thr178fs)
NM_032043.3(BRIP1):c.535_536dup (p.Val180fs)
NM_032043.3(BRIP1):c.53del (p.Pro18fs)
NM_032043.3(BRIP1):c.548T>A (p.Leu183Ter)
NM_032043.3(BRIP1):c.548del (p.Leu183fs) rs1060501778
NM_032043.3(BRIP1):c.558del (p.Val187fs)
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs) rs1567878148
NM_032043.3(BRIP1):c.561del (p.Asp188fs)
NM_032043.3(BRIP1):c.566C>A (p.Ser189Ter)
NM_032043.3(BRIP1):c.566C>G (p.Ser189Ter) rs1555615763
NM_032043.3(BRIP1):c.568G>T (p.Gly190Ter)
NM_032043.3(BRIP1):c.576del (p.Thr192_Val193insTer) rs876660769
NM_032043.3(BRIP1):c.598G>T (p.Glu200Ter)
NM_032043.3(BRIP1):c.603del (p.Lys201_Ile202insTer)
NM_032043.3(BRIP1):c.604del (p.Lys201_Ile202insTer) rs1603361577
NM_032043.3(BRIP1):c.608del (p.Asn203fs) rs1603361570
NM_032043.3(BRIP1):c.612del (p.Ser206fs)
NM_032043.3(BRIP1):c.622C>T (p.Gln208Ter)
NM_032043.3(BRIP1):c.627dup (p.Pro210fs)
NM_032043.3(BRIP1):c.632del (p.Pro211fs) rs1060501779
NM_032043.3(BRIP1):c.637del (p.His213fs)
NM_032043.3(BRIP1):c.643_644insGTGGCACCCC (p.Ser215fs)
NM_032043.3(BRIP1):c.644_645del (p.Cys214_Ser215insTer) rs2078117088
NM_032043.3(BRIP1):c.646del (p.Arg216fs) rs1603347042
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter) rs1603346983
NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter) rs786201733
NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter) rs1603368431
NM_032043.3(BRIP1):c.66C>G (p.Tyr22Ter) rs1603368431
NM_032043.3(BRIP1):c.674dup (p.Asn225fs)
NM_032043.3(BRIP1):c.676dup (p.Ser226fs)
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter) rs45459799
NM_032043.3(BRIP1):c.680_681del (p.Gln227fs)
NM_032043.3(BRIP1):c.688del (p.Ser230fs)
NM_032043.3(BRIP1):c.68dup (p.Ser24fs) rs1555618716
NM_032043.3(BRIP1):c.699del (p.Lys234fs)
NM_032043.3(BRIP1):c.700A>T (p.Lys234Ter)
NM_032043.3(BRIP1):c.71dup (p.Gln25fs) rs2145864140
NM_032043.3(BRIP1):c.727dup (p.Ile243fs)
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter) rs1603346857
NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter) rs2078971612
NM_032043.3(BRIP1):c.759_760dup (p.Lys254fs) rs2078112240
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs) rs2078112057
NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter) rs1555609257
NM_032043.3(BRIP1):c.775dup (p.Ile259fs)
NM_032043.3(BRIP1):c.777del (p.Thr260fs)
NM_032043.3(BRIP1):c.777dup (p.Thr260fs) rs1555609254
NM_032043.3(BRIP1):c.779del (p.Thr260fs)
NM_032043.3(BRIP1):c.788del (p.Leu263fs)
NM_032043.3(BRIP1):c.78dup (p.Ala27fs) rs1555618709
NM_032043.3(BRIP1):c.7_11del (p.Ser3fs) rs1603368490
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
NM_032043.3(BRIP1):c.807_826del (p.Gly270fs)
NM_032043.3(BRIP1):c.811dup (p.Val271fs)
NM_032043.3(BRIP1):c.815dup (p.Met273fs)
NM_032043.3(BRIP1):c.817dup (p.Met273fs)
NM_032043.3(BRIP1):c.82A>G (p.Met28Val) rs1330147176
NM_032043.3(BRIP1):c.840del (p.His281fs) rs1555609191
NM_032043.3(BRIP1):c.844dup (p.Thr282fs) rs2145414039
NM_032043.3(BRIP1):c.84dup (p.Met29fs)
NM_032043.3(BRIP1):c.850dup (p.Val284fs)
NM_032043.3(BRIP1):c.866del (p.Val289fs) rs864622166
NM_032043.3(BRIP1):c.871_872del (p.Asn291fs)
NM_032043.3(BRIP1):c.875del (p.Phe292fs) rs2078107930
NM_032043.3(BRIP1):c.876del (p.Phe292fs) rs1555609162
NM_032043.3(BRIP1):c.890_891insT (p.Lys297fs) rs878855159
NM_032043.3(BRIP1):c.890del (p.Lys297fs) rs786202610
NM_032043.3(BRIP1):c.8C>A (p.Ser3Ter) rs1603368491
NM_032043.3(BRIP1):c.903del (p.Leu301fs) rs876659490
NM_032043.3(BRIP1):c.917dup (p.Asn306fs) rs1555609121
NM_032043.3(BRIP1):c.918del (p.Asn306fs) rs1555609116
NM_032043.3(BRIP1):c.93+1G>A rs587782047
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs) rs1555607792
NM_032043.3(BRIP1):c.932del (p.Tyr311fs) rs587778138
NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)
NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter) rs1436085018
NM_032043.3(BRIP1):c.94-7_178dup rs1555618396
NM_032043.3(BRIP1):c.942del (p.His314fs) rs2077993152
NM_032043.3(BRIP1):c.948del (p.His317fs)
NM_032043.3(BRIP1):c.958del (p.Ser320fs) rs864622236
NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter) rs587778139
NM_032043.3(BRIP1):c.964del (p.Gln322fs)
NM_032043.3(BRIP1):c.96del (p.Leu33fs) rs1603367753
NM_032043.3(BRIP1):c.971del (p.Thr324fs)
NM_032043.3(BRIP1):c.984_990del (p.Phe328fs) rs2145339188
NM_032043.3(BRIP1):c.985C>T (p.Gln329Ter) rs2077991700
NM_032043.3(BRIP1):c.985del (p.Gln329fs)
NM_058216.3(RAD51C):c.394dup (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter) rs587782818
NM_058216.3(RAD51C):c.907G>T (p.Glu303Ter) rs2143961266
NM_058216.3(RAD51C):c.966-2_1026+1del rs2144044038
PALB2:c.2515-1G>T rs587776417
Single allele
nsv1067861

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