ClinVar Miner

List of variants in gene NOTCH1 reported as uncertain significance for familial bicuspid aortic valve

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 268
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319 0.00147
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397 0.00044
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218 0.00034
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.7387G>A (p.Ala2463Thr) rs537210445 0.00021
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His) rs754086897 0.00019
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn) rs200816814 0.00018
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser) rs750242131 0.00017
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691 0.00017
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp) rs199666126 0.00016
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) rs749490844 0.00015
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940 0.00013
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu) rs376104770 0.00013
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys) rs763988265 0.00011
NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln) rs371069660 0.00011
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) rs200562991 0.00010
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392 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.6788G>A (p.Arg2263Gln) rs200521815 0.00010
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.4652G>T (p.Ser1551Ile) rs774068657 0.00009
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) rs375065108 0.00009
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) rs61751541 0.00008
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val) rs374352922 0.00008
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870 0.00008
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met) rs560030759 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.4795G>A (p.Val1599Met) rs543770603 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.1510C>T (p.Arg504Cys) rs752071569 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.3338C>T (p.Ala1113Val) rs377351349 0.00006
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His) rs377594681 0.00006
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr) rs372660483 0.00006
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met) rs573864607 0.00006
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys) rs199652954 0.00006
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu) rs761839390 0.00006
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222 0.00006
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.2908A>G (p.Thr970Ala) rs201053795 0.00005
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn) rs548083258 0.00005
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504 0.00005
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu) rs745681787 0.00005
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His) rs755124691 0.00005
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met) rs368396893 0.00005
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00005
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp) rs773134608 0.00005
NM_017617.5(NOTCH1):c.2002C>G (p.Pro668Ala) rs780810308 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.3121G>A (p.Gly1041Ser) rs375260339 0.00004
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val) rs200871631 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.5017G>A (p.Gly1673Ser) rs1226514285 0.00004
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val) rs114479009 0.00004
NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met) rs35652719 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.6577A>G (p.Ser2193Gly) rs1060502236 0.00004
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) rs763902589 0.00004
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser) rs928512979 0.00003
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln) rs749085650 0.00003
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser) rs757066417 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.3341G>A (p.Arg1114His) rs777684045 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.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.500C>T (p.Pro167Leu) rs370951369 0.00003
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) rs745901158 0.00003
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn) rs571739078 0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848 0.00003
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln) rs373119531 0.00003
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser) rs370722609 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.1256-15G>A rs200086842 0.00002
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile) rs761629787 0.00002
NM_017617.5(NOTCH1):c.2068G>A (p.Gly690Arg) rs764112977 0.00002
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val) rs374434131 0.00002
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) rs200699541 0.00002
NM_017617.5(NOTCH1):c.2937C>T (p.His979=) rs1406216361 0.00002
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln) rs773926521 0.00002
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys) rs147841035 0.00002
NM_017617.5(NOTCH1):c.5023A>G (p.Ile1675Val) rs375408767 0.00002
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu) rs552065719 0.00002
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr) rs569203312 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.6979C>T (p.Arg2327Trp) rs751007903 0.00002
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr) rs752802795 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.1094G>A (p.Arg365His) rs775991013 0.00001
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu) rs1037236860 0.00001
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu) rs754529382 0.00001
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met) rs373770404 0.00001
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met) rs757497167 0.00001
NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn) rs757988142 0.00001
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met) rs376055493 0.00001
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile) rs763886355 0.00001
NM_017617.5(NOTCH1):c.1760T>A (p.Phe587Tyr) rs771440130 0.00001
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His) rs544117297 0.00001
NM_017617.5(NOTCH1):c.1778C>T (p.Pro593Leu) rs886039014 0.00001
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val) rs755740633 0.00001
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu) rs1260932753 0.00001
NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr) rs587782970 0.00001
NM_017617.5(NOTCH1):c.2074A>G (p.Thr692Ala) rs1385815860 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.244G>A (p.Val82Met) rs571831870 0.00001
NM_017617.5(NOTCH1):c.2510C>G (p.Pro837Arg) rs777663026 0.00001
NM_017617.5(NOTCH1):c.2605G>A (p.Asp869Asn) rs1420968156 0.00001
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr) rs767886377 0.00001
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser) rs367586502 0.00001
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met) rs377343669 0.00001
NM_017617.5(NOTCH1):c.3095A>G (p.His1032Arg) rs1397562033 0.00001
NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser) rs587778566 0.00001
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg) rs764816819 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.3569A>G (p.His1190Arg) rs775438678 0.00001
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln) rs756362905 0.00001
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met) rs750169914 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.3988C>T (p.Arg1330Cys) rs1249540119 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.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.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.4588C>T (p.Pro1530Ser) rs750808945 0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) rs748862853 0.00001
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala) rs762492041 0.00001
NM_017617.5(NOTCH1):c.4742C>T (p.Pro1581Leu) rs746431035 0.00001
NM_017617.5(NOTCH1):c.4865G>A (p.Arg1622His) rs778271353 0.00001
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His) rs946083212 0.00001
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu) rs1243453790 0.00001
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn) rs1417478070 0.00001
NM_017617.5(NOTCH1):c.5284C>T (p.Arg1762Trp) rs1356199208 0.00001
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe) rs775497405 0.00001
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val) rs1064796983 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.5560C>T (p.Arg1854Cys) rs376689092 0.00001
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu) rs779337715 0.00001
NM_017617.5(NOTCH1):c.559G>A (p.Gly187Arg) rs750295442 0.00001
NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg) rs761427888 0.00001
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met) rs746237272 0.00001
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=) rs773571672 0.00001
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile) rs760005580 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.6422C>T (p.Ser2141Leu) rs767822693 0.00001
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu) rs761562076 0.00001
NM_017617.5(NOTCH1):c.6743A>C (p.Asn2248Thr) rs1554826464 0.00001
NM_017617.5(NOTCH1):c.6745G>A (p.Val2249Met) rs369457922 0.00001
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp) rs553542677 0.00001
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys) rs768817065 0.00001
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser) rs1020747496 0.00001
NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser) rs1325758824 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.7291C>T (p.Arg2431Trp) rs758410389 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.7642G>A (p.Ala2548Thr) rs761156723 0.00001
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met) rs369721921 0.00001
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser) rs749696049 0.00001
NM_017617.5(NOTCH1):c.1070T>C (p.Phe357Ser) rs1843316172
NM_017617.5(NOTCH1):c.1070_1072del (p.Phe357del) rs1843316084
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg) rs754529382
NM_017617.5(NOTCH1):c.1242T>G (p.Asp414Glu) rs1843307597
NM_017617.5(NOTCH1):c.1505A>G (p.Asn502Ser)
NM_017617.5(NOTCH1):c.1542C>G (p.Cys514Trp)
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) rs373125283
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu) rs778992111
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr) rs775217381
NM_017617.5(NOTCH1):c.2062C>T (p.His688Tyr)
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.2243C>A (p.Thr748Asn) rs1284149123
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser) rs1454630791
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu) rs377286829
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His) rs768517628
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp) rs1589064290
NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly) rs202144877
NM_017617.5(NOTCH1):c.2520CGG[1] (p.Gly842del) rs754554370
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.269_270delinsTG (p.Ala90Val) rs1554730737
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His) rs373075482
NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly) rs1843150410
NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn) rs1843149230
NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala) rs1843147969
NM_017617.5(NOTCH1):c.2963C>T (p.Thr988Ile) rs1843147704
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile) rs886039138
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg) rs531420022
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His) rs768625801
NM_017617.5(NOTCH1):c.3556G>C (p.Glu1186Gln)
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.3638C>G (p.Thr1213Ser) rs750536437
NM_017617.5(NOTCH1):c.3832G>A (p.Ala1278Thr) rs1406056612
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu) rs756972680
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.3999C>G (p.Ile1333Met)
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala) rs1131692021
NM_017617.5(NOTCH1):c.4049G>C (p.Arg1350Pro) rs150343794
NM_017617.5(NOTCH1):c.4058G>A (p.Gly1353Asp) rs1274662962
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met) rs373960609
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr) rs1388726872
NM_017617.5(NOTCH1):c.4583_4586+2dup
NM_017617.5(NOTCH1):c.4608C>G (p.Cys1536Trp)
NM_017617.5(NOTCH1):c.475G>A (p.Glu159Lys)
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg) rs367838230
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) rs774808496
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys) rs750085425
NM_017617.5(NOTCH1):c.5167+5G>A
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) rs377294245
NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser) rs864622062
NM_017617.5(NOTCH1):c.5351G>A (p.Arg1784Gln)
NM_017617.5(NOTCH1):c.5430G>C (p.Gln1810His) rs1843005523
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu) rs755659037
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys) rs374103443
NM_017617.5(NOTCH1):c.5661C>G (p.Ile1887Met) rs750185397
NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His) rs897872809
NM_017617.5(NOTCH1):c.5923G>A (p.Gly1975Ser)
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His) rs779118023
NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu) rs756874994
NM_017617.5(NOTCH1):c.6397C>A (p.Pro2133Thr) rs61733294
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.6851C>T (p.Thr2284Ile) rs1341934554
NM_017617.5(NOTCH1):c.7151A>G (p.Gln2384Arg) rs1842918547
NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His) rs61751486
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp) rs886039031
NM_017617.5(NOTCH1):c.928G>A (p.Gly310Arg)
NM_017617.5(NOTCH1):c.968G>A (p.Cys323Tyr)

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