ClinVar Miner

List of variants in gene NOTCH1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 626
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00221
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys) rs182330532 0.00058
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val) rs200370953 0.00056
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met) rs149057410 0.00048
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183 0.00046
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220 0.00035
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 0.00035
NM_017617.5(NOTCH1):c.7223T>C (p.Leu2408Pro) rs767728582 0.00031
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400 0.00028
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 0.00026
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519 0.00024
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) rs587778559 0.00021
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_017617.5(NOTCH1):c.7298T>C (p.Phe2433Ser) rs201493851 0.00020
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg) rs201613894 0.00019
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn) rs200816814 0.00018
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His) rs754086897 0.00018
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn) rs548083258 0.00017
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu) rs201163739 0.00016
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691 0.00016
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser) rs750242131 0.00015
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp) rs199666126 0.00014
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) rs749490844 0.00014
NM_017617.5(NOTCH1):c.631A>G (p.Thr211Ala) rs376902925 0.00014
NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg) rs572960572 0.00014
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239 0.00014
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys) rs763988265 0.00013
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) rs201662530 0.00013
NM_017617.5(NOTCH1):c.5192C>T (p.Pro1731Leu) rs761345476 0.00013
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu) rs376104770 0.00013
NM_017617.5(NOTCH1):c.2359A>G (p.Asn787Asp) rs199672693 0.00011
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392 0.00011
NM_017617.5(NOTCH1):c.2863C>T (p.Arg955Cys) rs370797169 0.00011
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His) rs373841359 0.00011
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu) rs375025242 0.00011
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) rs200562991 0.00010
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr) rs200495793 0.00010
NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser) rs765844768 0.00010
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159 0.00010
NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln) rs371069660 0.00010
NM_017617.5(NOTCH1):c.1725C>T (p.Cys575=) rs369070550 0.00009
NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile) rs370696201 0.00009
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu) rs367710569 0.00009
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) rs375065108 0.00009
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870 0.00009
NM_017617.5(NOTCH1):c.1870G>A (p.Ala624Thr) rs372771179 0.00008
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val) rs374352922 0.00008
NM_017617.5(NOTCH1):c.5224G>T (p.Ala1742Ser) rs760669267 0.00008
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=) rs199793164 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val) rs371303106 0.00007
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) rs61751541 0.00007
NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr) rs566680728 0.00007
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys) rs780873661 0.00007
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser) rs376422513 0.00007
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555 0.00007
NM_017617.5(NOTCH1):c.825C>T (p.Gly275=) rs61751556 0.00007
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His) rs561126575 0.00006
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) rs763621169 0.00006
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser) rs768095251 0.00006
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val) rs200871631 0.00006
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His) rs377594681 0.00006
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met) rs573864607 0.00006
NM_017617.5(NOTCH1):c.5183C>T (p.Pro1728Leu) rs766358616 0.00006
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys) rs199652954 0.00006
NM_017617.5(NOTCH1):c.6457G>A (p.Val2153Met) rs375073677 0.00006
NM_017617.5(NOTCH1):c.7292G>A (p.Arg2431Gln) rs753752321 0.00006
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222 0.00006
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys) rs752071569 0.00005
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met) rs746796894 0.00005
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys) rs1472690723 0.00005
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser) rs369259434 0.00005
NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met) rs764921648 0.00005
NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp) rs554142958 0.00005
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala) rs201053795 0.00005
NM_017617.5(NOTCH1):c.3326-4G>A rs773638417 0.00005
NM_017617.5(NOTCH1):c.4027G>A (p.Ala1343Thr) rs369654090 0.00005
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504 0.00005
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr) rs372660483 0.00005
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu) rs745681787 0.00005
NM_017617.5(NOTCH1):c.4698C>T (p.Pro1566=) rs200462746 0.00005
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met) rs368396893 0.00005
NM_017617.5(NOTCH1):c.6941T>C (p.Leu2314Pro) rs200929799 0.00005
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp) rs773134608 0.00005
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu) rs761839390 0.00005
NM_017617.5(NOTCH1):c.1120G>A (p.Asp374Asn) rs770729642 0.00004
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr) rs775217381 0.00004
NM_017617.5(NOTCH1):c.2002C>G (p.Pro668Ala) rs780810308 0.00004
NM_017617.5(NOTCH1):c.2086G>A (p.Gly696Ser) rs373556820 0.00004
NM_017617.5(NOTCH1):c.2126A>G (p.His709Arg) rs373233257 0.00004
NM_017617.5(NOTCH1):c.2353G>A (p.Gly785Ser) rs764191723 0.00004
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287 0.00004
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn) rs765293859 0.00004
NM_017617.5(NOTCH1):c.3017C>T (p.Thr1006Ile) rs367860186 0.00004
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser) rs375260339 0.00004
NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His) rs762091081 0.00004
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser) rs751874720 0.00004
NM_017617.5(NOTCH1):c.4426G>A (p.Gly1476Ser) rs776133530 0.00004
NM_017617.5(NOTCH1):c.5219C>T (p.Ala1740Val) rs777962754 0.00004
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu) rs770713134 0.00004
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495 0.00004
NM_017617.5(NOTCH1):c.6727G>A (p.Gly2243Ser) rs61751491 0.00004
NM_017617.5(NOTCH1):c.7385C>T (p.Pro2462Leu) rs767435492 0.00004
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met) rs369721921 0.00004
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser) rs928512979 0.00003
NM_017617.5(NOTCH1):c.1646C>G (p.Thr549Ser) rs1843262534 0.00003
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser) rs757066417 0.00003
NM_017617.5(NOTCH1):c.1868A>G (p.Asn623Ser) rs769696527 0.00003
NM_017617.5(NOTCH1):c.1889T>C (p.Leu630Pro) rs752513330 0.00003
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu) rs576030298 0.00003
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser) rs1379596542 0.00003
NM_017617.5(NOTCH1):c.2754C>T (p.Asn918=) rs373787791 0.00003
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met) rs377343669 0.00003
NM_017617.5(NOTCH1):c.3076G>A (p.Asp1026Asn) rs772134978 0.00003
NM_017617.5(NOTCH1):c.3110A>C (p.Gln1037Pro) rs1408874772 0.00003
NM_017617.5(NOTCH1):c.3245G>A (p.Arg1082His) rs758471372 0.00003
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) rs777684045 0.00003
NM_017617.5(NOTCH1):c.3373G>A (p.Ala1125Thr) rs767963898 0.00003
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350 0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950 0.00003
NM_017617.5(NOTCH1):c.3670G>A (p.Asp1224Asn) rs757508359 0.00003
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His) rs763679772 0.00003
NM_017617.5(NOTCH1):c.3989G>A (p.Arg1330His) rs1180096756 0.00003
NM_017617.5(NOTCH1):c.4013C>T (p.Ala1338Val) rs1397249771 0.00003
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser) rs769493139 0.00003
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn) rs200232299 0.00003
NM_017617.5(NOTCH1):c.4412C>T (p.Ala1471Val) rs376799353 0.00003
NM_017617.5(NOTCH1):c.4587-5C>G rs780617240 0.00003
NM_017617.5(NOTCH1):c.478G>A (p.Ala160Thr) rs376244873 0.00003
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His) rs755124691 0.00003
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu) rs370951369 0.00003
NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser) rs1226514285 0.00003
NM_017617.5(NOTCH1):c.5777G>A (p.Arg1926His) rs771407924 0.00003
NM_017617.5(NOTCH1):c.6313A>G (p.Met2105Val) rs748138179 0.00003
NM_017617.5(NOTCH1):c.6377G>C (p.Gly2126Ala) rs776496915 0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848 0.00003
NM_017617.5(NOTCH1):c.6557G>T (p.Gly2186Val) rs757589247 0.00003
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly) rs1060502236 0.00003
NM_017617.5(NOTCH1):c.6770C>T (p.Ala2257Val) rs377112509 0.00003
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln) rs373119531 0.00003
NM_017617.5(NOTCH1):c.7250C>T (p.Pro2417Leu) rs370652630 0.00003
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser) rs370722609 0.00003
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) rs763902589 0.00003
NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs) rs763016003 0.00003
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu) rs757631575 0.00002
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile) rs761629787 0.00002
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met) rs376055493 0.00002
NM_017617.5(NOTCH1):c.1693G>A (p.Val565Met) rs750330670 0.00002
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys) rs749381544 0.00002
NM_017617.5(NOTCH1):c.2453T>C (p.Leu818Pro) rs1298965823 0.00002
NM_017617.5(NOTCH1):c.2482G>A (p.Val828Met) rs772945824 0.00002
NM_017617.5(NOTCH1):c.2668G>A (p.Gly890Ser) rs1248255443 0.00002
NM_017617.5(NOTCH1):c.289C>T (p.Leu97Phe) rs1399662154 0.00002
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) rs200699541 0.00002
NM_017617.5(NOTCH1):c.3034G>A (p.Gly1012Ser) rs776957107 0.00002
NM_017617.5(NOTCH1):c.3269C>G (p.Thr1090Ser) rs761508282 0.00002
NM_017617.5(NOTCH1):c.3286G>A (p.Val1096Met) rs369730402 0.00002
NM_017617.5(NOTCH1):c.334C>T (p.Arg112Cys) rs1399392600 0.00002
NM_017617.5(NOTCH1):c.3503C>T (p.Ser1168Phe) rs375190395 0.00002
NM_017617.5(NOTCH1):c.3679C>T (p.Pro1227Ser) rs777652834 0.00002
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln) rs773926521 0.00002
NM_017617.5(NOTCH1):c.3741G>C (p.Gln1247His) rs781658171 0.00002
NM_017617.5(NOTCH1):c.3770C>T (p.Pro1257Leu) rs200245794 0.00002
NM_017617.5(NOTCH1):c.3859C>T (p.Arg1287Cys) rs751275854 0.00002
NM_017617.5(NOTCH1):c.4057G>A (p.Gly1353Ser) rs761908188 0.00002
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys) rs147841035 0.00002
NM_017617.5(NOTCH1):c.4478C>T (p.Ser1493Phe) rs553265305 0.00002
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala) rs762492041 0.00002
NM_017617.5(NOTCH1):c.4834G>A (p.Gly1612Ser) rs1166328821 0.00002
NM_017617.5(NOTCH1):c.5023A>G (p.Ile1675Val) rs375408767 0.00002
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr) rs569203312 0.00002
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn) rs571739078 0.00002
NM_017617.5(NOTCH1):c.6395C>T (p.Thr2132Met) rs777501680 0.00002
NM_017617.5(NOTCH1):c.645C>T (p.Cys215=) rs974424401 0.00002
NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val) rs777809068 0.00002
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) rs752505638 0.00002
NM_017617.5(NOTCH1):c.7001C>A (p.Pro2334His) rs370135470 0.00002
NM_017617.5(NOTCH1):c.7114C>T (p.Arg2372Trp) rs754234580 0.00002
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr) rs752802795 0.00002
NM_017617.5(NOTCH1):c.7463A>G (p.His2488Arg) rs1208693439 0.00002
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824 0.00002
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser) rs371333249 0.00002
NM_017617.5(NOTCH1):c.1000G>A (p.Glu334Lys) rs779061035 0.00001
NM_017617.5(NOTCH1):c.1077C>T (p.Cys359=) rs202235419 0.00001
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His) rs775991013 0.00001
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu) rs1037236860 0.00001
NM_017617.5(NOTCH1):c.1214C>T (p.Thr405Met) rs370746889 0.00001
NM_017617.5(NOTCH1):c.1215G>A (p.Thr405=) rs747864683 0.00001
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu) rs754529382 0.00001
NM_017617.5(NOTCH1):c.1242T>G (p.Asp414Glu) rs1843307597 0.00001
NM_017617.5(NOTCH1):c.128C>T (p.Thr43Met) rs371103280 0.00001
NM_017617.5(NOTCH1):c.1334C>T (p.Thr445Met) rs752919688 0.00001
NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=) rs368963607 0.00001
NM_017617.5(NOTCH1):c.1533G>T (p.Glu511Asp) rs759834538 0.00001
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met) rs757497167 0.00001
NM_017617.5(NOTCH1):c.1619G>A (p.Gly540Asp) rs767618789 0.00001
NM_017617.5(NOTCH1):c.1648T>G (p.Tyr550Asp) rs1843262478 0.00001
NM_017617.5(NOTCH1):c.1726C>T (p.His576Tyr) rs1409484433 0.00001
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile) rs763886355 0.00001
NM_017617.5(NOTCH1):c.1757C>T (p.Thr586Ile) rs1843254040 0.00001
NM_017617.5(NOTCH1):c.1760T>A (p.Phe587Tyr) rs771440130 0.00001
NM_017617.5(NOTCH1):c.1778C>T (p.Pro593Leu) rs886039014 0.00001
NM_017617.5(NOTCH1):c.182A>G (p.Asn61Ser) rs1554730749 0.00001
NM_017617.5(NOTCH1):c.1846G>A (p.Gly616Ser) rs2133363522 0.00001
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val) rs755740633 0.00001
NM_017617.5(NOTCH1):c.1951G>T (p.Asp651Tyr) rs1182867386 0.00001
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu) rs1260932753 0.00001
NM_017617.5(NOTCH1):c.2068G>A (p.Gly690Arg) rs764112977 0.00001
NM_017617.5(NOTCH1):c.2074A>G (p.Thr692Ala) rs1385815860 0.00001
NM_017617.5(NOTCH1):c.2093A>G (p.Asn698Ser) rs1338004985 0.00001
NM_017617.5(NOTCH1):c.2128G>A (p.Asp710Asn) rs950236535 0.00001
NM_017617.5(NOTCH1):c.2207+5G>A rs1214619547 0.00001
NM_017617.5(NOTCH1):c.2243C>A (p.Thr748Asn) rs1284149123 0.00001
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser) rs1454630791 0.00001
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp) rs1589064290 0.00001
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met) rs571831870 0.00001
NM_017617.5(NOTCH1):c.2510C>G (p.Pro837Arg) rs777663026 0.00001
NM_017617.5(NOTCH1):c.2594C>T (p.Thr865Ile) rs1342719071 0.00001
NM_017617.5(NOTCH1):c.2605G>A (p.Asp869Asn) rs1420968156 0.00001
NM_017617.5(NOTCH1):c.2614G>A (p.Glu872Lys) rs762050048 0.00001
NM_017617.5(NOTCH1):c.2692G>A (p.Gly898Ser) rs748777783 0.00001
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His) rs373075482 0.00001
NM_017617.5(NOTCH1):c.2719G>A (p.Asp907Asn) rs757628476 0.00001
NM_017617.5(NOTCH1):c.2773G>A (p.Gly925Ser) rs775047070 0.00001
NM_017617.5(NOTCH1):c.2842G>A (p.Glu948Lys) rs1843150542 0.00001
NM_017617.5(NOTCH1):c.2854G>C (p.Asp952His) rs758240214 0.00001
NM_017617.5(NOTCH1):c.287C>T (p.Pro96Leu) rs1050259961 0.00001
NM_017617.5(NOTCH1):c.2969+7G>A rs770026189 0.00001
NM_017617.5(NOTCH1):c.3068A>G (p.Asn1023Ser) rs937138982 0.00001
NM_017617.5(NOTCH1):c.3095A>G (p.His1032Arg) rs1397562033 0.00001
NM_017617.5(NOTCH1):c.314C>G (p.Ala105Gly) rs1212259128 0.00001
NM_017617.5(NOTCH1):c.3160C>A (p.Pro1054Thr) rs1018501056 0.00001
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn) rs375931404 0.00001
NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser) rs587778566 0.00001
NM_017617.5(NOTCH1):c.3214G>A (p.Gly1072Ser) rs780582836 0.00001
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val) rs370300490 0.00001
NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met) rs769903954 0.00001
NM_017617.5(NOTCH1):c.3510+17G>A rs749934781 0.00001
NM_017617.5(NOTCH1):c.3529G>A (p.Gly1177Arg) rs754086177 0.00001
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg) rs775438678 0.00001
NM_017617.5(NOTCH1):c.3570C>A (p.His1190Gln) rs769619561 0.00001
NM_017617.5(NOTCH1):c.3598G>A (p.Asp1200Asn) rs544640305 0.00001
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln) rs756362905 0.00001
NM_017617.5(NOTCH1):c.3706C>T (p.Pro1236Ser) rs749988739 0.00001
NM_017617.5(NOTCH1):c.3707C>T (p.Pro1236Leu) rs1241855040 0.00001
NM_017617.5(NOTCH1):c.3710A>G (p.Lys1237Arg) rs576434469 0.00001
NM_017617.5(NOTCH1):c.3733G>A (p.Val1245Met) rs926643780 0.00001
NM_017617.5(NOTCH1):c.3747C>T (p.Gly1249=) rs533632819 0.00001
NM_017617.5(NOTCH1):c.3787C>T (p.Arg1263Cys) rs1415111675 0.00001
NM_017617.5(NOTCH1):c.3829G>A (p.Asp1277Asn) rs550872754 0.00001
NM_017617.5(NOTCH1):c.3832G>A (p.Ala1278Thr) rs1406056612 0.00001
NM_017617.5(NOTCH1):c.3862G>A (p.Val1288Ile) rs752264096 0.00001
NM_017617.5(NOTCH1):c.3869A>G (p.Asp1290Gly) rs1347832105 0.00001
NM_017617.5(NOTCH1):c.3874C>T (p.His1292Tyr) rs372348365 0.00001
NM_017617.5(NOTCH1):c.3879C>T (p.Cys1293=) rs777242726 0.00001
NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu) rs750539322 0.00001
NM_017617.5(NOTCH1):c.3901G>A (p.Gly1301Arg) rs1227711223 0.00001
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) rs768775024 0.00001
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys) rs754634957 0.00001
NM_017617.5(NOTCH1):c.3991G>A (p.Gly1331Arg) rs769908800 0.00001
NM_017617.5(NOTCH1):c.4010C>G (p.Pro1337Arg) rs1043832212 0.00001
NM_017617.5(NOTCH1):c.4024G>A (p.Gly1342Ser) rs748933222 0.00001
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys) rs587778567 0.00001
NM_017617.5(NOTCH1):c.4100C>T (p.Pro1367Leu) rs758787267 0.00001
NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser) rs954507677 0.00001
NM_017617.5(NOTCH1):c.428C>T (p.Pro143Leu) rs1228192276 0.00001
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg) rs780500109 0.00001
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser) rs759828439 0.00001
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met) rs369915496 0.00001
NM_017617.5(NOTCH1):c.4477T>C (p.Ser1493Pro) rs749283347 0.00001
NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser) rs766362765 0.00001
NM_017617.5(NOTCH1):c.4568G>A (p.Arg1523His) rs367589813 0.00001
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val) rs774374213 0.00001
NM_017617.5(NOTCH1):c.4627G>A (p.Gly1543Arg) rs533102436 0.00001
NM_017617.5(NOTCH1):c.4636G>A (p.Asp1546Asn) rs933070856 0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) rs748862853 0.00001
NM_017617.5(NOTCH1):c.4663G>A (p.Glu1555Lys) rs746342893 0.00001
NM_017617.5(NOTCH1):c.4742C>T (p.Pro1581Leu) rs746431035 0.00001
NM_017617.5(NOTCH1):c.4780C>T (p.Arg1594Trp) rs1213244424 0.00001
NM_017617.5(NOTCH1):c.4792C>T (p.Arg1598Cys) rs779195962 0.00001
NM_017617.5(NOTCH1):c.4852C>T (p.Pro1618Ser) rs1406481520 0.00001
NM_017617.5(NOTCH1):c.4865G>A (p.Arg1622His) rs778271353 0.00001
NM_017617.5(NOTCH1):c.4891A>G (p.Ile1631Val) rs990403823 0.00001
NM_017617.5(NOTCH1):c.4982G>A (p.Arg1661Gln) rs1163223024 0.00001
NM_017617.5(NOTCH1):c.499C>T (p.Pro167Ser) rs1439038323 0.00001
NM_017617.5(NOTCH1):c.5008G>T (p.Asp1670Tyr) rs1157456139 0.00001
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu) rs552065719 0.00001
NM_017617.5(NOTCH1):c.5167+3A>G rs1025172473 0.00001
NM_017617.5(NOTCH1):c.5234T>C (p.Val1745Ala) rs1843012616 0.00001
NM_017617.5(NOTCH1):c.5284C>T (p.Arg1762Trp) rs1356199208 0.00001
NM_017617.5(NOTCH1):c.5384+11G>A rs1340470620 0.00001
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe) rs775497405 0.00001
NM_017617.5(NOTCH1):c.541G>A (p.Glu181Lys) rs780209394 0.00001
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val) rs1064796983 0.00001
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys) rs374103443 0.00001
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro) rs1085307869 0.00001
NM_017617.5(NOTCH1):c.5495C>G (p.Pro1832Arg) rs1425070721 0.00001
NM_017617.5(NOTCH1):c.5522G>A (p.Arg1841Gln) rs1290643339 0.00001
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys) rs376689092 0.00001
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu) rs779337715 0.00001
NM_017617.5(NOTCH1):c.5608G>A (p.Asp1870Asn) rs1313068805 0.00001
NM_017617.5(NOTCH1):c.5614A>G (p.Met1872Val) rs1842998280 0.00001
NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg) rs761427888 0.00001
NM_017617.5(NOTCH1):c.580A>G (p.Thr194Ala) rs770333242 0.00001
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile) rs760005580 0.00001
NM_017617.5(NOTCH1):c.5830G>A (p.Ala1944Thr) rs371414501 0.00001
NM_017617.5(NOTCH1):c.613G>A (p.Val205Ile) rs979299004 0.00001
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00001
NM_017617.5(NOTCH1):c.6259C>T (p.Arg2087Trp) rs373806373 0.00001
NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln) rs768543030 0.00001
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser) rs1401319182 0.00001
NM_017617.5(NOTCH1):c.6358C>T (p.Arg2120Cys) rs375969725 0.00001
NM_017617.5(NOTCH1):c.637C>G (p.Pro213Ala) rs1468714810 0.00001
NM_017617.5(NOTCH1):c.6401C>T (p.Thr2134Ile) rs1249825304 0.00001
NM_017617.5(NOTCH1):c.6476G>A (p.Arg2159His) rs1060502233 0.00001
NM_017617.5(NOTCH1):c.649C>T (p.Arg217Trp) rs757003332 0.00001
NM_017617.5(NOTCH1):c.650G>A (p.Arg217Gln) rs1392605424 0.00001
NM_017617.5(NOTCH1):c.6535C>T (p.Arg2179Trp) rs768400804 0.00001
NM_017617.5(NOTCH1):c.6542A>G (p.Lys2181Arg) rs746372139 0.00001
NM_017617.5(NOTCH1):c.6680C>T (p.Pro2227Leu) rs751456570 0.00001
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp) rs553542677 0.00001
NM_017617.5(NOTCH1):c.6769G>A (p.Ala2257Thr) rs587778572 0.00001
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys) rs768817065 0.00001
NM_017617.5(NOTCH1):c.6784G>A (p.Gly2262Ser) rs780071276 0.00001
NM_017617.5(NOTCH1):c.6812C>T (p.Pro2271Leu) rs1223321022 0.00001
NM_017617.5(NOTCH1):c.6815G>A (p.Arg2272His) rs972658026 0.00001
NM_017617.5(NOTCH1):c.6867C>A (p.Ser2289Arg) rs1131691923 0.00001
NM_017617.5(NOTCH1):c.688G>A (p.Gly230Arg) rs1027492078 0.00001
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser) rs1020747496 0.00001
NM_017617.5(NOTCH1):c.6910T>G (p.Leu2304Val) rs749993527 0.00001
NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser) rs1325758824 0.00001
NM_017617.5(NOTCH1):c.7046C>T (p.Pro2349Leu) rs540165156 0.00001
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met) rs537766290 0.00001
NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His) rs369935287 0.00001
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met) rs769693988 0.00001
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu) rs375119074 0.00001
NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg) rs746658493 0.00001
NM_017617.5(NOTCH1):c.7241C>T (p.Pro2414Leu) rs1340144781 0.00001
NM_017617.5(NOTCH1):c.7279G>C (p.Gly2427Arg) rs370722609 0.00001
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp) rs758410389 0.00001
NM_017617.5(NOTCH1):c.7355C>T (p.Ala2452Val) rs746280413 0.00001
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser) rs755667439 0.00001
NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp) rs1365732147 0.00001
NM_017617.5(NOTCH1):c.7568C>T (p.Ser2523Leu) rs1554826328 0.00001
NM_017617.5(NOTCH1):c.7574C>T (p.Pro2525Leu) rs567323027 0.00001
NM_017617.5(NOTCH1):c.764A>G (p.Glu255Gly) rs1186718194 0.00001
NM_017617.5(NOTCH1):c.805G>A (p.Gly269Arg) rs768524076 0.00001
NM_017617.5(NOTCH1):c.844C>T (p.Arg282Cys) rs1468729123 0.00001
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser) rs749696049 0.00001
NM_017617.5(NOTCH1):c.1004A>G (p.Asn335Ser)
NM_017617.5(NOTCH1):c.1028C>A (p.Ala343Asp)
NM_017617.5(NOTCH1):c.1033T>A (p.Phe345Ile)
NM_017617.5(NOTCH1):c.1042G>A (p.Ala348Thr)
NM_017617.5(NOTCH1):c.1070T>C (p.Phe357Ser) rs1843316172
NM_017617.5(NOTCH1):c.1076G>T (p.Cys359Phe)
NM_017617.5(NOTCH1):c.1077C>G (p.Cys359Trp) rs202235419
NM_017617.5(NOTCH1):c.1141T>C (p.Cys381Arg)
NM_017617.5(NOTCH1):c.125G>T (p.Gly42Val) rs754666783
NM_017617.5(NOTCH1):c.1267T>A (p.Cys423Ser) rs2133369041
NM_017617.5(NOTCH1):c.1295C>G (p.Thr432Arg) rs200562991
NM_017617.5(NOTCH1):c.1336G>T (p.Gly446Cys) rs2133368711
NM_017617.5(NOTCH1):c.1364A>C (p.Glu455Ala) rs2133368584
NM_017617.5(NOTCH1):c.137G>A (p.Cys46Tyr) rs2540492460
NM_017617.5(NOTCH1):c.1441G>A (p.Gly481Ser) rs1448146225
NM_017617.5(NOTCH1):c.1465G>T (p.Val489Phe) rs1843292615
NM_017617.5(NOTCH1):c.1496G>T (p.Cys499Phe) rs1843292131
NM_017617.5(NOTCH1):c.1510C>G (p.Arg504Gly) rs752071569
NM_017617.5(NOTCH1):c.1534T>C (p.Phe512Leu) rs2133367368
NM_017617.5(NOTCH1):c.1549C>A (p.Pro517Thr)
NM_017617.5(NOTCH1):c.1574G>C (p.Cys525Ser) rs2133365438
NM_017617.5(NOTCH1):c.1591G>A (p.Glu531Lys) rs937879671
NM_017617.5(NOTCH1):c.1609T>G (p.Cys537Gly) rs2540457887
NM_017617.5(NOTCH1):c.1660T>C (p.Cys554Arg)
NM_017617.5(NOTCH1):c.1681A>G (p.Thr561Ala) rs2133364361
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) rs373125283
NM_017617.5(NOTCH1):c.1719C>A (p.Asp573Glu) rs1002136018
NM_017617.5(NOTCH1):c.1739G>C (p.Cys580Ser) rs2133364081
NM_017617.5(NOTCH1):c.1806C>A (p.Thr602=) rs2133363752
NM_017617.5(NOTCH1):c.1869C>A (p.Asn623Lys)
NM_017617.5(NOTCH1):c.1873T>C (p.Tyr625His) rs2133363386
NM_017617.5(NOTCH1):c.1896G>T (p.Gly632=)
NM_017617.5(NOTCH1):c.1896_1897delinsTG (p.Thr633Ala) rs1843250416
NM_017617.5(NOTCH1):c.1925T>G (p.Leu642Arg)
NM_017617.5(NOTCH1):c.1961C>T (p.Thr654Ile) rs765651994
NM_017617.5(NOTCH1):c.2005G>C (p.Gly669Arg) rs778394191
NM_017617.5(NOTCH1):c.2008T>G (p.Tyr670Asp) rs2133362331
NM_017617.5(NOTCH1):c.2035A>G (p.Ile679Val) rs1273334867
NM_017617.5(NOTCH1):c.2071G>A (p.Gly691Ser) rs2133361080
NM_017617.5(NOTCH1):c.2072G>A (p.Gly691Asp)
NM_017617.5(NOTCH1):c.2083G>A (p.Asp695Asn) rs767162403
NM_017617.5(NOTCH1):c.2083G>T (p.Asp695Tyr) rs767162403
NM_017617.5(NOTCH1):c.2114C>G (p.Pro705Arg) rs2133360849
NM_017617.5(NOTCH1):c.2116G>C (p.Glu706Gln)
NM_017617.5(NOTCH1):c.2148G>C (p.Glu716Asp) rs376468003
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser) rs1843232044
NM_017617.5(NOTCH1):c.2198G>A (p.Ser733Asn)
NM_017617.5(NOTCH1):c.2258A>T (p.Asn753Ile)
NM_017617.5(NOTCH1):c.2296G>A (p.Gly766Ser) rs768836936
NM_017617.5(NOTCH1):c.2299A>C (p.Thr767Pro)
NM_017617.5(NOTCH1):c.2308G>A (p.Asp770Asn) rs2133358672
NM_017617.5(NOTCH1):c.2321G>A (p.Gly774Asp)
NM_017617.5(NOTCH1):c.2323T>C (p.Tyr775His) rs2540452861
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu) rs377286829
NM_017617.5(NOTCH1):c.2338C>T (p.Arg780Trp) rs756642176
NM_017617.5(NOTCH1):c.2352_2353+1del
NM_017617.5(NOTCH1):c.235C>T (p.Arg79Cys) rs761439288
NM_017617.5(NOTCH1):c.2363G>T (p.Cys788Phe) rs752038308
NM_017617.5(NOTCH1):c.2368A>G (p.Thr790Ala) rs2133358150
NM_017617.5(NOTCH1):c.2387C>T (p.Ala796Val) rs753036935
NM_017617.5(NOTCH1):c.2414C>A (p.Thr805Lys) rs374937899
NM_017617.5(NOTCH1):c.2417G>A (p.Cys806Tyr) rs2133358057
NM_017617.5(NOTCH1):c.2443T>A (p.Cys815Ser) rs1176627299
NM_017617.5(NOTCH1):c.2467+5G>A rs2133357901
NM_017617.5(NOTCH1):c.2479G>A (p.Glu827Lys) rs760376139
NM_017617.5(NOTCH1):c.2498G>A (p.Cys833Tyr) rs2133354891
NM_017617.5(NOTCH1):c.2500G>T (p.Ala834Ser) rs1554728847
NM_017617.5(NOTCH1):c.2520CGG[1] (p.Gly842del) rs754554370
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys) rs750170645
NM_017617.5(NOTCH1):c.2558T>A (p.Phe853Tyr)
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.2561C>T (p.Ser854Phe) rs1843175525
NM_017617.5(NOTCH1):c.2575A>G (p.Thr859Ala)
NM_017617.5(NOTCH1):c.259T>C (p.Cys87Arg)
NM_017617.5(NOTCH1):c.2613C>G (p.Asn871Lys) rs767614547
NM_017617.5(NOTCH1):c.2693G>T (p.Gly898Val)
NM_017617.5(NOTCH1):c.2699G>A (p.Ser900Asn) rs1589062647
NM_017617.5(NOTCH1):c.269_270delinsTG (p.Ala90Val) rs1554730737
NM_017617.5(NOTCH1):c.2705G>C (p.Arg902Pro) rs373075482
NM_017617.5(NOTCH1):c.2740+5G>A rs2133352835
NM_017617.5(NOTCH1):c.2743C>T (p.Pro915Ser) rs878855024
NM_017617.5(NOTCH1):c.2759G>T (p.Gly920Val) rs1158774637
NM_017617.5(NOTCH1):c.2806G>C (p.Gly936Arg) rs773847667
NM_017617.5(NOTCH1):c.2828A>G (p.Glu943Gly) rs1435335355
NM_017617.5(NOTCH1):c.2839A>T (p.Asn947Tyr) rs2133350978
NM_017617.5(NOTCH1):c.2844G>T (p.Glu948Asp)
NM_017617.5(NOTCH1):c.2848G>A (p.Ala950Thr) rs2133350932
NM_017617.5(NOTCH1):c.2849C>T (p.Ala950Val) rs777658333
NM_017617.5(NOTCH1):c.2864G>A (p.Arg955His) rs557049479
NM_017617.5(NOTCH1):c.2869G>C (p.Gly957Arg) rs773902766
NM_017617.5(NOTCH1):c.2894A>G (p.Asp965Gly) rs2133350657
NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn) rs1843149230
NM_017617.5(NOTCH1):c.2902A>G (p.Thr968Ala) rs1382743269
NM_017617.5(NOTCH1):c.2963C>T (p.Thr988Ile) rs1843147704
NM_017617.5(NOTCH1):c.3039C>G (p.Phe1013Leu)
NM_017617.5(NOTCH1):c.3086C>T (p.Pro1029Leu)
NM_017617.5(NOTCH1):c.3109C>G (p.Gln1037Glu) rs878855025
NM_017617.5(NOTCH1):c.3125C>A (p.Ser1042Tyr)
NM_017617.5(NOTCH1):c.3142C>T (p.Pro1048Ser) rs770521856
NM_017617.5(NOTCH1):c.3171+3G>A rs1431447273
NM_017617.5(NOTCH1):c.3172-5C>T rs762077987
NM_017617.5(NOTCH1):c.3223T>A (p.Trp1075Arg) rs2133347515
NM_017617.5(NOTCH1):c.3231C>G (p.Thr1077=) rs781656729
NM_017617.5(NOTCH1):c.3232C>T (p.His1078Tyr) rs1233569898
NM_017617.5(NOTCH1):c.3236C>T (p.Thr1079Ile) rs1010573276
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser) rs531420022
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg) rs531420022
NM_017617.5(NOTCH1):c.3271G>C (p.Gly1091Arg) rs768095251
NM_017617.5(NOTCH1):c.328C>T (p.Pro110Ser) rs1064796976
NM_017617.5(NOTCH1):c.3295G>A (p.Val1099Met) rs1843121423
NM_017617.5(NOTCH1):c.3301T>C (p.Cys1101Arg) rs2133347137
NM_017617.5(NOTCH1):c.3328G>A (p.Val1110Ile) rs778969906
NM_017617.5(NOTCH1):c.3332A>G (p.Asp1111Gly) rs2133346648
NM_017617.5(NOTCH1):c.3353A>G (p.His1118Arg) rs1843118145
NM_017617.5(NOTCH1):c.3356G>A (p.Gly1119Glu) rs765929402
NM_017617.5(NOTCH1):c.3356G>T (p.Gly1119Val) rs765929402
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His) rs768625801
NM_017617.5(NOTCH1):c.3395G>A (p.Arg1132His) rs1336014812
NM_017617.5(NOTCH1):c.3493G>A (p.Gly1165Ser)
NM_017617.5(NOTCH1):c.3496G>C (p.Gly1166Arg) rs754815022
NM_017617.5(NOTCH1):c.3505T>G (p.Cys1169Gly)
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His) rs61751544
NM_017617.5(NOTCH1):c.3604C>T (p.Pro1202Ser) rs1554728268
NM_017617.5(NOTCH1):c.3679C>G (p.Pro1227Ala)
NM_017617.5(NOTCH1):c.3704G>A (p.Ser1235Asn)
NM_017617.5(NOTCH1):c.3723C>G (p.Asn1241Lys)
NM_017617.5(NOTCH1):c.3746G>C (p.Gly1249Ala) rs1843094978
NM_017617.5(NOTCH1):c.3772_3816del (p.Gly1258_Leu1272del)
NM_017617.5(NOTCH1):c.3778G>A (p.Val1260Met) rs751169922
NM_017617.5(NOTCH1):c.3785A>G (p.Glu1262Gly)
NM_017617.5(NOTCH1):c.3796G>A (p.Gly1266Arg) rs2133343623
NM_017617.5(NOTCH1):c.3845A>G (p.Gln1282Arg) rs1589059763
NM_017617.5(NOTCH1):c.3852C>G (p.Cys1284Trp) rs377289044
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu) rs756972680
NM_017617.5(NOTCH1):c.3893G>C (p.Gly1298Ala) rs760966826
NM_017617.5(NOTCH1):c.3900C>G (p.Thr1300=) rs201791826
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu) rs149057410
NM_017617.5(NOTCH1):c.3974C>A (p.Ala1325Asp) rs896438598
NM_017617.5(NOTCH1):c.4009C>T (p.Pro1337Ser)
NM_017617.5(NOTCH1):c.4014+5G>C
NM_017617.5(NOTCH1):c.4014G>C (p.Ala1338=) rs377217445
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala) rs1131692021
NM_017617.5(NOTCH1):c.4020C>A (p.Phe1340Leu) rs1241964591
NM_017617.5(NOTCH1):c.4024G>T (p.Gly1342Cys) rs748933222
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.4042_4044delinsTAT (p.Asp1348Tyr)
NM_017617.5(NOTCH1):c.4048C>T (p.Arg1350Cys)
NM_017617.5(NOTCH1):c.4049G>A (p.Arg1350His) rs150343794
NM_017617.5(NOTCH1):c.4049G>C (p.Arg1350Pro) rs150343794
NM_017617.5(NOTCH1):c.4064T>C (p.Leu1355Pro) rs1589059022
NM_017617.5(NOTCH1):c.4096G>C (p.Gly1366Arg) rs778270588
NM_017617.5(NOTCH1):c.4126G>A (p.Gly1376Ser)
NM_017617.5(NOTCH1):c.4181G>A (p.Gly1394Asp) rs1329672903
NM_017617.5(NOTCH1):c.4200G>T (p.Gln1400His)
NM_017617.5(NOTCH1):c.4248C>G (p.Cys1416Trp) rs2133340163
NM_017617.5(NOTCH1):c.426C>A (p.Asp142Glu) rs2540468582
NM_017617.5(NOTCH1):c.4325C>G (p.Pro1442Arg) rs766146375
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr) rs1388726872
NM_017617.5(NOTCH1):c.4383G>T (p.Lys1461Asn) rs2133339457
NM_017617.5(NOTCH1):c.4393C>G (p.Leu1465Val) rs779863069
NM_017617.5(NOTCH1):c.4461G>C (p.Trp1487Cys)
NM_017617.5(NOTCH1):c.4507G>A (p.Gly1503Ser) rs1243264280
NM_017617.5(NOTCH1):c.4552G>A (p.Gly1518Ser)
NM_017617.5(NOTCH1):c.4583G>A (p.Cys1528Tyr) rs2133338466
NM_017617.5(NOTCH1):c.4632C>G (p.His1544Gln)
NM_017617.5(NOTCH1):c.463T>C (p.Cys155Arg)
NM_017617.5(NOTCH1):c.4640A>G (p.Gln1547Arg) rs1055806143
NM_017617.5(NOTCH1):c.4643G>A (p.Gly1548Asp) rs1843058128
NM_017617.5(NOTCH1):c.4664A>G (p.Glu1555Gly) rs781602537
NM_017617.5(NOTCH1):c.4680C>G (p.Asp1560Glu) rs2133337441
NM_017617.5(NOTCH1):c.4691A>C (p.His1564Pro)
NM_017617.5(NOTCH1):c.4786C>T (p.Leu1596Phe)
NM_017617.5(NOTCH1):c.4833C>G (p.His1611Gln) rs1308437413
NM_017617.5(NOTCH1):c.4879C>T (p.Arg1627Cys) rs1203442527
NM_017617.5(NOTCH1):c.4967G>A (p.Gly1656Asp)
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg) rs367838230
NM_017617.5(NOTCH1):c.5006T>C (p.Met1669Thr) rs2133335675
NM_017617.5(NOTCH1):c.5021C>T (p.Ser1674Phe)
NM_017617.5(NOTCH1):c.503C>A (p.Pro168His) rs1330042951
NM_017617.5(NOTCH1):c.506G>A (p.Ser169Asn) rs984149150
NM_017617.5(NOTCH1):c.5102C>A (p.Ala1701Glu)
NM_017617.5(NOTCH1):c.5126T>C (p.Leu1709Pro) rs886043624
NM_017617.5(NOTCH1):c.512A>G (p.His171Arg) rs1271986548
NM_017617.5(NOTCH1):c.5137A>G (p.Asn1713Asp) rs905363739
NM_017617.5(NOTCH1):c.5140A>G (p.Ile1714Val) rs2133333190
NM_017617.5(NOTCH1):c.5146T>C (p.Tyr1716His) rs2540432891
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys) rs750085425
NM_017617.5(NOTCH1):c.5155G>C (p.Glu1719Gln)
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) rs377294245
NM_017617.5(NOTCH1):c.5266C>G (p.Leu1756Val) rs746342953
NM_017617.5(NOTCH1):c.5273G>T (p.Arg1758Leu) rs373841359
NM_017617.5(NOTCH1):c.5297A>G (p.Gln1766Arg) rs2540431380
NM_017617.5(NOTCH1):c.5347C>T (p.Arg1783Trp) rs528703507
NM_017617.5(NOTCH1):c.5372C>G (p.Ser1791Cys) rs2133330852
NM_017617.5(NOTCH1):c.5387C>A (p.Pro1796His) rs557319054
NM_017617.5(NOTCH1):c.5410G>C (p.Ala1804Pro)
NM_017617.5(NOTCH1):c.5425A>C (p.Asn1809His) rs2133329950
NM_017617.5(NOTCH1):c.5497G>T (p.Asp1833Tyr) rs2133329220
NM_017617.5(NOTCH1):c.5508C>A (p.Asp1836Glu) rs764146134
NM_017617.5(NOTCH1):c.5513C>T (p.Thr1838Ile) rs1162527050
NM_017617.5(NOTCH1):c.5525A>G (p.Gln1842Arg) rs2133329053
NM_017617.5(NOTCH1):c.5551G>A (p.Ala1851Thr) rs1340087522
NM_017617.5(NOTCH1):c.5561G>A (p.Arg1854His) rs878855028
NM_017617.5(NOTCH1):c.5563A>G (p.Met1855Val)
NM_017617.5(NOTCH1):c.5576C>T (p.Ala1859Val)
NM_017617.5(NOTCH1):c.563T>C (p.Leu188Pro) rs1843399395
NM_017617.5(NOTCH1):c.569G>A (p.Arg190His) rs761616770
NM_017617.5(NOTCH1):c.569_586del (p.Arg190_Cys195del) rs2133377568
NM_017617.5(NOTCH1):c.5749G>C (p.Gly1917Arg)
NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His) rs897872809
NM_017617.5(NOTCH1):c.607C>T (p.Arg203Cys) rs867209548
NM_017617.5(NOTCH1):c.613G>C (p.Val205Leu) rs979299004
NM_017617.5(NOTCH1):c.617G>A (p.Cys206Tyr) rs2133377509
NM_017617.5(NOTCH1):c.619C>T (p.Arg207Cys) rs748300035
NM_017617.5(NOTCH1):c.6209G>A (p.Arg2070Gln)
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His) rs779118023
NM_017617.5(NOTCH1):c.6281A>G (p.Asp2094Gly) rs2133319235
NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu) rs756874994
NM_017617.5(NOTCH1):c.6295G>C (p.Asp2099His) rs766745955
NM_017617.5(NOTCH1):c.62G>A (p.Gly21Asp) rs1554733407
NM_017617.5(NOTCH1):c.6397C>A (p.Pro2133Thr) rs61733294
NM_017617.5(NOTCH1):c.6427A>C (p.Asn2143His) rs1842932672
NM_017617.5(NOTCH1):c.6428A>G (p.Asn2143Ser) rs1085307778
NM_017617.5(NOTCH1):c.6430G>A (p.Gly2144Ser) rs776577038
NM_017617.5(NOTCH1):c.6440G>T (p.Gly2147Val)
NM_017617.5(NOTCH1):c.6449A>G (p.Lys2150Arg) rs1589053374
NM_017617.5(NOTCH1):c.6476G>T (p.Arg2159Leu) rs1060502233
NM_017617.5(NOTCH1):c.6512A>T (p.Lys2171Met) rs2540422336
NM_017617.5(NOTCH1):c.655T>C (p.Tyr219His)
NM_017617.5(NOTCH1):c.6578G>A (p.Ser2193Asn) rs1315402658
NM_017617.5(NOTCH1):c.65C>T (p.Pro22Leu) rs769046407
NM_017617.5(NOTCH1):c.6623G>A (p.Gly2208Asp) rs1444594556
NM_017617.5(NOTCH1):c.6636C>A (p.Asp2212Glu) rs370606059
NM_017617.5(NOTCH1):c.670C>G (p.Pro224Ala) rs1843396147
NM_017617.5(NOTCH1):c.6719C>T (p.Thr2240Ile)
NM_017617.5(NOTCH1):c.6721C>T (p.His2241Tyr) rs2133317433
NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val) rs377165086
NM_017617.5(NOTCH1):c.6744C>G (p.Asn2248Lys) rs372771288
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val) rs759225800
NM_017617.5(NOTCH1):c.6778G>C (p.Gly2260Arg) rs1405100445
NM_017617.5(NOTCH1):c.677C>T (p.Pro226Leu) rs1843395886
NM_017617.5(NOTCH1):c.6800A>G (p.Glu2267Gly) rs2133317163
NM_017617.5(NOTCH1):c.6806G>A (p.Gly2269Asp) rs2133317148
NM_017617.5(NOTCH1):c.6810_6812del (p.Pro2271del) rs2540421647
NM_017617.5(NOTCH1):c.6926A>G (p.Glu2309Gly) rs2540421434
NM_017617.5(NOTCH1):c.6940C>G (p.Leu2314Val) rs2540421407
NM_017617.5(NOTCH1):c.6944A>G (p.Gln2315Arg) rs1842922417
NM_017617.5(NOTCH1):c.695C>T (p.Thr232Ile)
NM_017617.5(NOTCH1):c.6961A>C (p.Asn2321His)
NM_017617.5(NOTCH1):c.6974C>T (p.Pro2325Leu)
NM_017617.5(NOTCH1):c.6983G>A (p.Gly2328Glu) rs1451926227
NM_017617.5(NOTCH1):c.7036A>G (p.Met2346Val) rs1471422073
NM_017617.5(NOTCH1):c.7040T>C (p.Val2347Ala) rs1387630219
NM_017617.5(NOTCH1):c.7098G>C (p.Gln2366His) rs2540421103
NM_017617.5(NOTCH1):c.7135C>T (p.Leu2379=) rs907960826
NM_017617.5(NOTCH1):c.7175T>C (p.Met2392Thr) rs1036612594
NM_017617.5(NOTCH1):c.718A>G (p.Thr240Ala) rs1843394776
NM_017617.5(NOTCH1):c.719C>T (p.Thr240Ile) rs777523286
NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His) rs61751486
NM_017617.5(NOTCH1):c.7214A>C (p.Gln2405Pro) rs2540420870
NM_017617.5(NOTCH1):c.7227GCC[3] (p.Pro2415_Gln2416insPro) rs750907065
NM_017617.5(NOTCH1):c.7316G>C (p.Ser2439Thr) rs1131691402
NM_017617.5(NOTCH1):c.7324G>C (p.Asp2442His) rs2133315459
NM_017617.5(NOTCH1):c.7363A>T (p.Thr2455Ser)
NM_017617.5(NOTCH1):c.7426G>A (p.Val2476Met) rs763785541
NM_017617.5(NOTCH1):c.7490C>A (p.Thr2497Asn) rs2133314534
NM_017617.5(NOTCH1):c.751G>C (p.Gly251Arg) rs755667439
NM_017617.5(NOTCH1):c.7554C>G (p.Asp2518Glu) rs771410115
NM_017617.5(NOTCH1):c.7556dup (p.Trp2520fs) rs2540419925
NM_017617.5(NOTCH1):c.79C>T (p.Pro27Ser)
NM_017617.5(NOTCH1):c.853C>T (p.Pro285Ser)
NM_017617.5(NOTCH1):c.866-8C>A rs2133371734
NM_017617.5(NOTCH1):c.887T>C (p.Val296Ala)
NM_017617.5(NOTCH1):c.896G>A (p.Cys299Tyr) rs1414889345
NM_017617.5(NOTCH1):c.964G>A (p.Val322Met)
NM_017617.5(NOTCH1):c.968G>A (p.Cys323Tyr) rs2133371176
NM_017617.5(NOTCH1):c.997A>C (p.Ser333Arg) rs895972070

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