ClinVar Miner

List of variants in gene NOTCH1 reported as uncertain significance for Adams-Oliver syndrome 5

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 836
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) rs587778559 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.2206G>A (p.Gly736Arg) rs201662530 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.2359A>G (p.Asn787Asp) rs199672693 0.00011
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.2352C>T (p.Ser784=) rs774701000 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.4373C>T (p.Ala1458Val) rs374352922 0.00008
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870 0.00008
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.274G>C (p.Gly92Arg) rs1397413424 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.2521G>A (p.Gly841Ser) rs369259434 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.1904-3C>A rs748118679 0.00004
NM_017617.5(NOTCH1):c.2207+6C>T rs545872006 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.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.773T>C (p.Ile258Thr) rs1217015143 0.00004
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser) rs928512979 0.00003
NM_017617.5(NOTCH1):c.1441+4C>T rs764082065 0.00003
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln) rs749085650 0.00003
NM_017617.5(NOTCH1):c.1554G>A (p.Thr518=) rs190721271 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.3110A>C (p.Gln1037Pro) rs1408874772 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.500C>T (p.Pro167Leu) rs370951369 0.00003
NM_017617.5(NOTCH1):c.5716G>A (p.Ala1906Thr) rs779880917 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.1357G>A (p.Val453Ile) rs761629787 0.00002
NM_017617.5(NOTCH1):c.148G>A (p.Gly50Arg) rs776758626 0.00002
NM_017617.5(NOTCH1):c.152C>A (p.Ala51Asp) rs771954465 0.00002
NM_017617.5(NOTCH1):c.1693G>A (p.Val565Met) rs750330670 0.00002
NM_017617.5(NOTCH1):c.2014+6C>T rs529806324 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.3269C>G (p.Thr1090Ser) rs761508282 0.00002
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln) rs773926521 0.00002
NM_017617.5(NOTCH1):c.3900C>T (p.Thr1300=) rs201791826 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.5050C>A (p.Gln1684Lys) rs1843029493 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.5471G>A (p.Arg1824Gln) rs765309913 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.708G>A (p.Thr236=) rs774679591 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.1636G>A (p.Gly546Arg) rs764185451 0.00001
NM_017617.5(NOTCH1):c.1648T>G (p.Tyr550Asp) rs1843262478 0.00001
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616 0.00001
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met) rs376055493 0.00001
NM_017617.5(NOTCH1):c.1721C>T (p.Pro574Leu) rs771263341 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.1903+6C>T rs753388966 0.00001
NM_017617.5(NOTCH1):c.1918A>G (p.Ile640Val) rs1307313338 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.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.2564G>A (p.Cys855Tyr) rs759862433 0.00001
NM_017617.5(NOTCH1):c.2597G>C (p.Cys866Ser) rs763469662 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.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.3040A>T (p.Thr1014Ser) rs1181594680 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.3214G>A (p.Gly1072Ser) rs780582836 0.00001
NM_017617.5(NOTCH1):c.3244C>T (p.Arg1082Cys) rs1386494518 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.3442G>A (p.Glu1148Lys) rs1060502239 0.00001
NM_017617.5(NOTCH1):c.347C>T (p.Thr116Ile) rs1308100068 0.00001
NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met) rs769903954 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.3644-7C>G rs1243301340 0.00001
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met) rs750169914 0.00001
NM_017617.5(NOTCH1):c.3733G>A (p.Val1245Met) rs926643780 0.00001
NM_017617.5(NOTCH1):c.3787C>T (p.Arg1263Cys) rs1415111675 0.00001
NM_017617.5(NOTCH1):c.3866A>G (p.Asn1289Ser) rs1281437674 0.00001
NM_017617.5(NOTCH1):c.3879C>T (p.Cys1293=) rs777242726 0.00001
NM_017617.5(NOTCH1):c.3901G>A (p.Gly1301Arg) rs1227711223 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.4052C>T (p.Thr1351Ile) rs1357611221 0.00001
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys) rs587778567 0.00001
NM_017617.5(NOTCH1):c.4180G>A (p.Gly1394Ser) rs1210347209 0.00001
NM_017617.5(NOTCH1):c.4237C>A (p.Arg1413Ser) rs1348438354 0.00001
NM_017617.5(NOTCH1):c.4264G>A (p.Gly1422Arg) rs1255471066 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.4654G>A (p.Ala1552Thr) rs1438164851 0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) rs748862853 0.00001
NM_017617.5(NOTCH1):c.4675C>T (p.Leu1559=) rs370713185 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.499C>T (p.Pro167Ser) rs1439038323 0.00001
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn) rs1417478070 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.5350C>T (p.Arg1784Trp) rs1843010487 0.00001
NM_017617.5(NOTCH1):c.5384+6C>T rs747363366 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.5629C>T (p.Arg1877Cys) rs1446708596 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.5804C>T (p.Ala1935Val) rs374787627 0.00001
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile) rs760005580 0.00001
NM_017617.5(NOTCH1):c.5836C>T (p.Arg1946Cys) rs1440167765 0.00001
NM_017617.5(NOTCH1):c.6213G>A (p.Glu2071=) rs761295801 0.00001
NM_017617.5(NOTCH1):c.6293G>A (p.Arg2098His) rs759998676 0.00001
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser) rs1401319182 0.00001
NM_017617.5(NOTCH1):c.6343G>A (p.Glu2115Lys) rs777219891 0.00001
NM_017617.5(NOTCH1):c.6392G>A (p.Gly2131Asp) rs1842933513 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.6595C>T (p.Pro2199Ser) rs988164569 0.00001
NM_017617.5(NOTCH1):c.6743A>C (p.Asn2248Thr) rs1554826464 0.00001
NM_017617.5(NOTCH1):c.6748G>T (p.Ala2250Ser) rs1436539393 0.00001
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp) rs553542677 0.00001
NM_017617.5(NOTCH1):c.6758C>T (p.Pro2253Leu) rs1204397173 0.00001
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys) rs768817065 0.00001
NM_017617.5(NOTCH1):c.6812C>T (p.Pro2271Leu) rs1223321022 0.00001
NM_017617.5(NOTCH1):c.6868A>G (p.Ser2290Gly) rs1842924133 0.00001
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser) rs1020747496 0.00001
NM_017617.5(NOTCH1):c.68G>C (p.Arg23Pro) rs869025260 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.712G>A (p.Asp238Asn) rs550554578 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.7172A>T (p.Gln2391Leu) rs1169052272 0.00001
NM_017617.5(NOTCH1):c.7188C>G (p.Asn2396Lys) rs1842917968 0.00001
NM_017617.5(NOTCH1):c.7238C>T (p.Pro2413Leu) rs1842916834 0.00001
NM_017617.5(NOTCH1):c.7273G>A (p.Ala2425Thr) rs1364332299 0.00001
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp) rs758410389 0.00001
NM_017617.5(NOTCH1):c.7417G>A (p.Val2473Ile) rs1358523874 0.00001
NM_017617.5(NOTCH1):c.7430C>T (p.Thr2477Ile) rs1373474592 0.00001
NM_017617.5(NOTCH1):c.7472C>A (p.Ser2491Tyr) rs757165853 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.865+5G>A rs1307085130 0.00001
NM_017617.5(NOTCH1):c.866-3C>T rs950602055 0.00001
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser) rs749696049 0.00001
NC_000009.11:g.(?_139390513)_(139440248_?)dup
NC_000009.11:g.(?_139390523)_(139438574_?)dup
NC_000009.11:g.(?_139438456)_(139440238_?)dup
NC_000009.12:g.(?_136496051)_(136523999_?)del
NM_017617.5(NOTCH1):c.1017T>G (p.Cys339Trp)
NM_017617.5(NOTCH1):c.1018G>A (p.Ala340Thr)
NM_017617.5(NOTCH1):c.1027G>A (p.Ala343Thr) rs1843317533
NM_017617.5(NOTCH1):c.103G>A (p.Gly35Arg) rs1843774247
NM_017617.5(NOTCH1):c.1067C>T (p.Ser356Phe) rs1843316270
NM_017617.5(NOTCH1):c.1070T>C (p.Phe357Ser) rs1843316172
NM_017617.5(NOTCH1):c.1081T>C (p.Cys361Arg) rs1843315932
NM_017617.5(NOTCH1):c.1093C>T (p.Arg365Cys) rs1064795070
NM_017617.5(NOTCH1):c.1109G>A (p.Cys370Tyr) rs1564199987
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.1277C>G (p.Ala426Gly) rs528033027
NM_017617.5(NOTCH1):c.1295C>G (p.Thr432Arg) rs200562991
NM_017617.5(NOTCH1):c.1363G>A (p.Glu455Lys)
NM_017617.5(NOTCH1):c.1369G>T (p.Val457Phe)
NM_017617.5(NOTCH1):c.1379C>T (p.Pro460Leu)
NM_017617.5(NOTCH1):c.1385A>G (p.Gln462Arg)
NM_017617.5(NOTCH1):c.142T>A (p.Cys48Ser)
NM_017617.5(NOTCH1):c.1440C>A (p.Pro480=) rs61751555
NM_017617.5(NOTCH1):c.1441G>C (p.Gly481Arg) rs1448146225
NM_017617.5(NOTCH1):c.1442-3C>T rs1589067790
NM_017617.5(NOTCH1):c.1442G>T (p.Gly481Val) rs2133367544
NM_017617.5(NOTCH1):c.1474G>A (p.Asp492Asn)
NM_017617.5(NOTCH1):c.1477G>A (p.Glu493Lys) rs1554729862
NM_017617.5(NOTCH1):c.1477G>C (p.Glu493Gln)
NM_017617.5(NOTCH1):c.1483_1484delinsAA (p.Ala495Asn)
NM_017617.5(NOTCH1):c.1487G>C (p.Ser496Thr) rs2133367463
NM_017617.5(NOTCH1):c.1496G>T (p.Cys499Phe) rs1843292131
NM_017617.5(NOTCH1):c.1514G>A (p.Cys505Tyr) rs1060502240
NM_017617.5(NOTCH1):c.1522A>G (p.Lys508Glu)
NM_017617.5(NOTCH1):c.1527C>G (p.Ile509Met)
NM_017617.5(NOTCH1):c.1528A>G (p.Asn510Asp)
NM_017617.5(NOTCH1):c.1539G>C (p.Gln513His) rs747069934
NM_017617.5(NOTCH1):c.1555+5G>A
NM_017617.5(NOTCH1):c.1555+6G>A
NM_017617.5(NOTCH1):c.1577A>G (p.Gln526Arg)
NM_017617.5(NOTCH1):c.1601G>A (p.Ser534Asn)
NM_017617.5(NOTCH1):c.1618G>C (p.Gly540Arg)
NM_017617.5(NOTCH1):c.1648T>C (p.Tyr550His)
NM_017617.5(NOTCH1):c.1661G>A (p.Cys554Tyr) rs2133365061
NM_017617.5(NOTCH1):c.1669+3G>A
NM_017617.5(NOTCH1):c.1669+4C>A rs1227337588
NM_017617.5(NOTCH1):c.1669+4C>T
NM_017617.5(NOTCH1):c.1670-7G>A
NM_017617.5(NOTCH1):c.1679G>A (p.Gly560Glu)
NM_017617.5(NOTCH1):c.1684C>T (p.His562Tyr)
NM_017617.5(NOTCH1):c.1698C>G (p.Asp566Glu)
NM_017617.5(NOTCH1):c.1701C>G (p.Ile567Met) rs773932034
NM_017617.5(NOTCH1):c.170G>A (p.Cys57Tyr)
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.1756A>G (p.Thr586Ala) rs764854903
NM_017617.5(NOTCH1):c.1757C>T (p.Thr586Ile) rs1843254040
NM_017617.5(NOTCH1):c.1760T>C (p.Phe587Ser) rs771440130
NM_017617.5(NOTCH1):c.1762A>C (p.Thr588Pro) rs747384159
NM_017617.5(NOTCH1):c.1769T>G (p.Leu590Arg)
NM_017617.5(NOTCH1):c.1792C>T (p.His598Tyr) rs1589066307
NM_017617.5(NOTCH1):c.1797C>A (p.His599Gln)
NM_017617.5(NOTCH1):c.1799G>T (p.Cys600Phe) rs1843252800
NM_017617.5(NOTCH1):c.1815C>G (p.Asn605Lys) rs781029850
NM_017617.5(NOTCH1):c.1861C>G (p.Arg621Gly) rs774622686
NM_017617.5(NOTCH1):c.1871C>G (p.Ala624Gly)
NM_017617.5(NOTCH1):c.1888C>G (p.Leu630Val) rs2133363294
NM_017617.5(NOTCH1):c.1892A>G (p.Lys631Arg)
NM_017617.5(NOTCH1):c.1894G>A (p.Gly632Arg) rs2133363267
NM_017617.5(NOTCH1):c.1896_1897delinsTG (p.Thr633Ala) rs1843250416
NM_017617.5(NOTCH1):c.1903+15G>A
NM_017617.5(NOTCH1):c.1903+6C>G
NM_017617.5(NOTCH1):c.1904-3C>T rs748118679
NM_017617.5(NOTCH1):c.1906C>T (p.Pro636Ser)
NM_017617.5(NOTCH1):c.1936G>A (p.Ala646Thr)
NM_017617.5(NOTCH1):c.1945C>T (p.Pro649Ser)
NM_017617.5(NOTCH1):c.1988A>G (p.Glu663Gly)
NM_017617.5(NOTCH1):c.199C>T (p.Pro67Ser)
NM_017617.5(NOTCH1):c.200C>T (p.Pro67Leu)
NM_017617.5(NOTCH1):c.2012C>A (p.Thr671Lys) rs2133362310
NM_017617.5(NOTCH1):c.2012C>T (p.Thr671Ile)
NM_017617.5(NOTCH1):c.2039A>G (p.Asp680Gly) rs2133361218
NM_017617.5(NOTCH1):c.2041G>A (p.Glu681Lys)
NM_017617.5(NOTCH1):c.2051G>C (p.Gly684Ala)
NM_017617.5(NOTCH1):c.2053A>T (p.Asn685Tyr)
NM_017617.5(NOTCH1):c.2054A>G (p.Asn685Ser)
NM_017617.5(NOTCH1):c.2066A>G (p.Asn689Ser)
NM_017617.5(NOTCH1):c.2125C>A (p.His709Asn) rs2133360792
NM_017617.5(NOTCH1):c.2148G>C (p.Glu716Asp) rs376468003
NM_017617.5(NOTCH1):c.214G>A (p.Gly72Arg)
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser) rs1843232044
NM_017617.5(NOTCH1):c.2172C>G (p.Pro724=)
NM_017617.5(NOTCH1):c.2185G>A (p.Ala729Thr) rs1400821402
NM_017617.5(NOTCH1):c.2185G>T (p.Ala729Ser)
NM_017617.5(NOTCH1):c.2186C>T (p.Ala729Val) rs1843231402
NM_017617.5(NOTCH1):c.2210A>T (p.Tyr737Phe)
NM_017617.5(NOTCH1):c.2220C>A (p.Asp740Glu)
NM_017617.5(NOTCH1):c.2226C>G (p.Asp742Glu) rs201889382
NM_017617.5(NOTCH1):c.2243C>A (p.Thr748Asn) rs1284149123
NM_017617.5(NOTCH1):c.2257A>C (p.Asn753His)
NM_017617.5(NOTCH1):c.2280C>A (p.Asn760Lys)
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser) rs1454630791
NM_017617.5(NOTCH1):c.2293G>A (p.Gly765Ser) rs993388875
NM_017617.5(NOTCH1):c.2296G>C (p.Gly766Arg)
NM_017617.5(NOTCH1):c.2314A>C (p.Thr772Pro)
NM_017617.5(NOTCH1):c.2315C>A (p.Thr772Asn)
NM_017617.5(NOTCH1):c.2318G>A (p.Ser773Asn)
NM_017617.5(NOTCH1):c.2318G>C (p.Ser773Thr) rs758073507
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu) rs377286829
NM_017617.5(NOTCH1):c.2326_2328del (p.Val776del)
NM_017617.5(NOTCH1):c.2336G>C (p.Cys779Ser)
NM_017617.5(NOTCH1):c.2351G>C (p.Ser784Thr)
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His) rs768517628
NM_017617.5(NOTCH1):c.2372A>G (p.Asn791Ser) rs2133358146
NM_017617.5(NOTCH1):c.2377_2379del (p.Asn793del) rs587778561
NM_017617.5(NOTCH1):c.2378A>T (p.Asn793Ile)
NM_017617.5(NOTCH1):c.2379C>G (p.Asn793Lys)
NM_017617.5(NOTCH1):c.2405A>G (p.Asn802Ser) rs2133358091
NM_017617.5(NOTCH1):c.2410G>C (p.Gly804Arg)
NM_017617.5(NOTCH1):c.2416T>A (p.Cys806Ser) rs1805487567
NM_017617.5(NOTCH1):c.2420T>C (p.Ile807Thr) rs1265223880
NM_017617.5(NOTCH1):c.2428G>C (p.Val810Leu) rs948647691
NM_017617.5(NOTCH1):c.242G>T (p.Gly81Val)
NM_017617.5(NOTCH1):c.2435G>C (p.Gly812Ala) rs1843208318
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp) rs1589064290
NM_017617.5(NOTCH1):c.244G>T (p.Val82Leu) rs571831870
NM_017617.5(NOTCH1):c.2452C>G (p.Leu818Val) rs199841979
NM_017617.5(NOTCH1):c.2466A>G (p.Thr822=)
NM_017617.5(NOTCH1):c.2467+7G>T rs1843207149
NM_017617.5(NOTCH1):c.2468-5C>A rs932196144
NM_017617.5(NOTCH1):c.2491G>A (p.Ala831Thr)
NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly) rs202144877
NM_017617.5(NOTCH1):c.2504_2506del (p.Pro835_Ser836delinsArg)
NM_017617.5(NOTCH1):c.2509C>T (p.Pro837Ser) rs1843176956
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.2540C>G (p.Ser847Cys)
NM_017617.5(NOTCH1):c.254A>G (p.Tyr85Cys)
NM_017617.5(NOTCH1):c.2558T>G (p.Phe853Cys) rs1843175664
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.256G>T (p.Ala86Ser) rs373941045
NM_017617.5(NOTCH1):c.2580C>T (p.Gly860=) rs761604720
NM_017617.5(NOTCH1):c.260G>A (p.Cys87Tyr)
NM_017617.5(NOTCH1):c.2613C>G (p.Asn871Lys)
NM_017617.5(NOTCH1):c.2623C>A (p.Leu875Met)
NM_017617.5(NOTCH1):c.262A>G (p.Ser88Gly)
NM_017617.5(NOTCH1):c.2636G>T (p.Arg879Leu) rs368011392
NM_017617.5(NOTCH1):c.2655G>C (p.Gln885His) rs2133353313
NM_017617.5(NOTCH1):c.2666G>T (p.Gly889Val) rs1554728783
NM_017617.5(NOTCH1):c.2677T>C (p.Cys893Arg)
NM_017617.5(NOTCH1):c.2677T>G (p.Cys893Gly)
NM_017617.5(NOTCH1):c.2689G>A (p.Ala897Thr) rs2133353126
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.2702G>A (p.Gly901Glu)
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His) rs373075482
NM_017617.5(NOTCH1):c.2710T>C (p.Cys904Arg) rs1843166003
NM_017617.5(NOTCH1):c.2717C>T (p.Thr906Ile) rs2133352988
NM_017617.5(NOTCH1):c.272T>C (p.Leu91Pro)
NM_017617.5(NOTCH1):c.2741-6T>A rs2133351503
NM_017617.5(NOTCH1):c.2743C>G (p.Pro915Ala) rs878855024
NM_017617.5(NOTCH1):c.2759G>A (p.Gly920Asp)
NM_017617.5(NOTCH1):c.2768C>T (p.Thr923Ile)
NM_017617.5(NOTCH1):c.277T>G (p.Phe93Val)
NM_017617.5(NOTCH1):c.2806G>C (p.Gly936Arg)
NM_017617.5(NOTCH1):c.2834A>T (p.Asp945Val)
NM_017617.5(NOTCH1):c.2839_2841del (p.Asn947del)
NM_017617.5(NOTCH1):c.2849C>T (p.Ala950Val) rs777658333
NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly) rs1843150410
NM_017617.5(NOTCH1):c.2868C>A (p.Asn956Lys) rs760227470
NM_017617.5(NOTCH1):c.2890G>A (p.Val964Met)
NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn) rs1843149230
NM_017617.5(NOTCH1):c.2918C>T (p.Ala973Val)
NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala) rs1843147969
NM_017617.5(NOTCH1):c.2952G>C (p.Thr984=)
NM_017617.5(NOTCH1):c.2963C>T (p.Thr988Ile) rs1843147704
NM_017617.5(NOTCH1):c.2969+18G>A
NM_017617.5(NOTCH1):c.2969+2TG[3]
NM_017617.5(NOTCH1):c.2969+6C>T
NM_017617.5(NOTCH1):c.299C>T (p.Thr100Ile)
NM_017617.5(NOTCH1):c.3016A>T (p.Thr1006Ser)
NM_017617.5(NOTCH1):c.3045C>T (p.Gly1015=) rs2133348920
NM_017617.5(NOTCH1):c.305T>G (p.Leu102Arg) rs2133379239
NM_017617.5(NOTCH1):c.3061G>C (p.Asp1021His)
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile) rs886039138
NM_017617.5(NOTCH1):c.3109C>G (p.Gln1037Glu) rs878855025
NM_017617.5(NOTCH1):c.3110A>G (p.Gln1037Arg) rs1408874772
NM_017617.5(NOTCH1):c.3112G>A (p.Asp1038Asn) rs2133348754
NM_017617.5(NOTCH1):c.3118T>C (p.Cys1040Arg) rs1060502235
NM_017617.5(NOTCH1):c.3137C>A (p.Thr1046Asn)
NM_017617.5(NOTCH1):c.3140G>A (p.Cys1047Tyr) rs1843132240
NM_017617.5(NOTCH1):c.3143C>A (p.Pro1048His)
NM_017617.5(NOTCH1):c.3155C>T (p.Thr1052Ile)
NM_017617.5(NOTCH1):c.3165C>A (p.Asn1055Lys) rs1431940702
NM_017617.5(NOTCH1):c.3171+3G>A
NM_017617.5(NOTCH1):c.3171+6del
NM_017617.5(NOTCH1):c.3181C>T (p.His1061Tyr) rs766126767
NM_017617.5(NOTCH1):c.3221G>A (p.Cys1074Tyr) rs1843122994
NM_017617.5(NOTCH1):c.3230C>T (p.Thr1077Ile) rs1843122920
NM_017617.5(NOTCH1):c.3232C>T (p.His1078Tyr) rs1233569898
NM_017617.5(NOTCH1):c.3236C>T (p.Thr1079Ile)
NM_017617.5(NOTCH1):c.3245G>T (p.Arg1082Leu) rs758471372
NM_017617.5(NOTCH1):c.3250G>C (p.Glu1084Gln) rs766361207
NM_017617.5(NOTCH1):c.3257C>G (p.Pro1086Arg)
NM_017617.5(NOTCH1):c.3260G>A (p.Ser1087Asn)
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg) rs531420022
NM_017617.5(NOTCH1):c.3263G>A (p.Gly1088Asp)
NM_017617.5(NOTCH1):c.3271G>T (p.Gly1091Cys)
NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn)
NM_017617.5(NOTCH1):c.3295G>A (p.Val1099Met)
NM_017617.5(NOTCH1):c.3295G>T (p.Val1099Leu)
NM_017617.5(NOTCH1):c.3326G>C (p.Gly1109Ala) rs772310059
NM_017617.5(NOTCH1):c.3344T>C (p.Leu1115Pro)
NM_017617.5(NOTCH1):c.3353A>G (p.His1118Arg) rs1843118145
NM_017617.5(NOTCH1):c.3356G>T (p.Gly1119Val)
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His) rs768625801
NM_017617.5(NOTCH1):c.3365G>A (p.Cys1122Tyr) rs1589060802
NM_017617.5(NOTCH1):c.3370G>A (p.Asp1124Asn) rs1564192948
NM_017617.5(NOTCH1):c.3395G>A (p.Arg1132His) rs1336014812
NM_017617.5(NOTCH1):c.3401_3402delinsTT (p.Gln1134Leu)
NM_017617.5(NOTCH1):c.3403G>A (p.Ala1135Thr) rs1554728380
NM_017617.5(NOTCH1):c.3451C>T (p.Pro1151Ser)
NM_017617.5(NOTCH1):c.3455G>C (p.Ser1152Thr) rs1843116111
NM_017617.5(NOTCH1):c.3456C>A (p.Ser1152Arg) rs1354855330
NM_017617.5(NOTCH1):c.3465G>C (p.Gln1155His)
NM_017617.5(NOTCH1):c.3510+17G>A
NM_017617.5(NOTCH1):c.3510+18G>A
NM_017617.5(NOTCH1):c.3510+3G>C rs372739350
NM_017617.5(NOTCH1):c.3520G>A (p.Gly1174Ser) rs1272399533
NM_017617.5(NOTCH1):c.3530G>C (p.Gly1177Ala)
NM_017617.5(NOTCH1):c.3537C>G (p.Asn1179Lys)
NM_017617.5(NOTCH1):c.3539G>A (p.Cys1180Tyr) rs1218904003
NM_017617.5(NOTCH1):c.3541T>C (p.Ser1181Pro)
NM_017617.5(NOTCH1):c.3544GAG[1] (p.Glu1183del) rs1370411882
NM_017617.5(NOTCH1):c.3550A>T (p.Ile1184Phe)
NM_017617.5(NOTCH1):c.3551T>C (p.Ile1184Thr)
NM_017617.5(NOTCH1):c.3556G>A (p.Glu1186Lys)
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His) rs61751544
NM_017617.5(NOTCH1):c.3596T>C (p.Leu1199Pro)
NM_017617.5(NOTCH1):c.3604C>T (p.Pro1202Ser) rs1554728268
NM_017617.5(NOTCH1):c.3609C>A (p.Asn1203Lys) rs1843104558
NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser) rs750536437
NM_017617.5(NOTCH1):c.3667G>T (p.Asp1223Tyr)
NM_017617.5(NOTCH1):c.3683C>T (p.Pro1228Leu) rs561646185
NM_017617.5(NOTCH1):c.3689A>C (p.Asp1230Ala)
NM_017617.5(NOTCH1):c.3692C>A (p.Pro1231His)
NM_017617.5(NOTCH1):c.3707C>T (p.Pro1236Leu)
NM_017617.5(NOTCH1):c.3715T>C (p.Phe1239Leu) rs1478449371
NM_017617.5(NOTCH1):c.3725G>C (p.Gly1242Ala)
NM_017617.5(NOTCH1):c.3728C>T (p.Thr1243Ile)
NM_017617.5(NOTCH1):c.3730T>G (p.Cys1244Gly)
NM_017617.5(NOTCH1):c.3732C>G (p.Cys1244Trp)
NM_017617.5(NOTCH1):c.3747C>T (p.Gly1249=)
NM_017617.5(NOTCH1):c.374A>T (p.Tyr125Phe) rs779240492
NM_017617.5(NOTCH1):c.376A>G (p.Lys126Glu) rs1589072528
NM_017617.5(NOTCH1):c.3770C>G (p.Pro1257Arg)
NM_017617.5(NOTCH1):c.3778G>T (p.Val1260Leu)
NM_017617.5(NOTCH1):c.3812G>A (p.Cys1271Tyr)
NM_017617.5(NOTCH1):c.3832G>A (p.Ala1278Thr) rs1406056612
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.3868G>A (p.Asp1290Asn)
NM_017617.5(NOTCH1):c.3870C>G (p.Asp1290Glu)
NM_017617.5(NOTCH1):c.3880G>A (p.Glu1294Lys)
NM_017617.5(NOTCH1):c.3886C>A (p.Arg1296Ser) rs1056341092
NM_017617.5(NOTCH1):c.3890C>T (p.Ala1297Val)
NM_017617.5(NOTCH1):c.3900C>G (p.Thr1300=)
NM_017617.5(NOTCH1):c.3901+4G>A
NM_017617.5(NOTCH1):c.3901+5G>A
NM_017617.5(NOTCH1):c.3913G>C (p.Glu1305Gln)
NM_017617.5(NOTCH1):c.3936A>C (p.Lys1312Asn)
NM_017617.5(NOTCH1):c.394G>A (p.Gly132Ser)
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.4001G>A (p.Cys1334Tyr)
NM_017617.5(NOTCH1):c.4014+9A>G rs1843087537
NM_017617.5(NOTCH1):c.4014G>C (p.Ala1338=) rs377217445
NM_017617.5(NOTCH1):c.4015-6G>A
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala) rs1131692021
NM_017617.5(NOTCH1):c.4025G>A (p.Gly1342Asp)
NM_017617.5(NOTCH1):c.403+3G>A
NM_017617.5(NOTCH1):c.403+3del rs2133378865
NM_017617.5(NOTCH1):c.4045G>A (p.Ala1349Thr) rs553328686
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.4081G>A (p.Gly1361Ser)
NM_017617.5(NOTCH1):c.4091T>C (p.Ile1364Thr)
NM_017617.5(NOTCH1):c.4112C>T (p.Thr1371Ile)
NM_017617.5(NOTCH1):c.4130C>T (p.Pro1377Leu) rs1843073620
NM_017617.5(NOTCH1):c.4141C>T (p.Pro1381Ser) rs1589058950
NM_017617.5(NOTCH1):c.4142C>T (p.Pro1381Leu) rs752551426
NM_017617.5(NOTCH1):c.4162A>C (p.Ser1388Arg) rs2133340569
NM_017617.5(NOTCH1):c.4169C>T (p.Pro1390Leu)
NM_017617.5(NOTCH1):c.4181G>A (p.Gly1394Asp)
NM_017617.5(NOTCH1):c.4185C>A (p.Asn1395Lys)
NM_017617.5(NOTCH1):c.4213C>T (p.Pro1405Ser) rs1416597670
NM_017617.5(NOTCH1):c.4214C>T (p.Pro1405Leu)
NM_017617.5(NOTCH1):c.4228C>T (p.Pro1410Ser)
NM_017617.5(NOTCH1):c.4235A>G (p.Tyr1412Cys) rs2133340251
NM_017617.5(NOTCH1):c.4237C>T (p.Arg1413Cys) rs1348438354
NM_017617.5(NOTCH1):c.4241G>C (p.Cys1414Ser) rs1554728005
NM_017617.5(NOTCH1):c.4282C>G (p.Leu1428Val) rs1363126385
NM_017617.5(NOTCH1):c.4294T>A (p.Phe1432Ile) rs1843069355
NM_017617.5(NOTCH1):c.4297G>C (p.Gly1433Arg) rs751904604
NM_017617.5(NOTCH1):c.4304G>C (p.Gly1435Ala) rs1247192040
NM_017617.5(NOTCH1):c.4312C>A (p.Arg1438Ser) rs746077264
NM_017617.5(NOTCH1):c.4327C>A (p.Pro1443Thr)
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.436_450dup (p.Ala150_Asn151insSerAsnProCysAla)
NM_017617.5(NOTCH1):c.4383G>T (p.Lys1461Asn) rs2133339457
NM_017617.5(NOTCH1):c.4384G>A (p.Val1462Ile)
NM_017617.5(NOTCH1):c.4393C>G (p.Leu1465Val) rs779863069
NM_017617.5(NOTCH1):c.4411G>A (p.Ala1471Thr) rs1414066424
NM_017617.5(NOTCH1):c.4411G>T (p.Ala1471Ser)
NM_017617.5(NOTCH1):c.4412C>A (p.Ala1471Glu)
NM_017617.5(NOTCH1):c.4412C>G (p.Ala1471Gly) rs376799353
NM_017617.5(NOTCH1):c.4444A>G (p.Asn1482Asp) rs1843065776
NM_017617.5(NOTCH1):c.4449C>G (p.Phe1483Leu)
NM_017617.5(NOTCH1):c.4450A>G (p.Asn1484Asp)
NM_017617.5(NOTCH1):c.4467C>G (p.Asn1489Lys)
NM_017617.5(NOTCH1):c.4468T>G (p.Cys1490Gly) rs1843065225
NM_017617.5(NOTCH1):c.4481T>G (p.Leu1494Arg)
NM_017617.5(NOTCH1):c.4507G>C (p.Gly1503Arg) rs1243264280
NM_017617.5(NOTCH1):c.4513T>C (p.Cys1505Arg) rs1843064220
NM_017617.5(NOTCH1):c.4520G>A (p.Ser1507Asn)
NM_017617.5(NOTCH1):c.4586+6G>T
NM_017617.5(NOTCH1):c.4587-8C>A rs1470543120
NM_017617.5(NOTCH1):c.4622G>C (p.Ser1541Thr)
NM_017617.5(NOTCH1):c.4627G>A (p.Gly1543Arg) rs533102436
NM_017617.5(NOTCH1):c.4640A>G (p.Gln1547Arg) rs1055806143
NM_017617.5(NOTCH1):c.4643G>A (p.Gly1548Asp)
NM_017617.5(NOTCH1):c.4664A>C (p.Glu1555Ala) rs781602537
NM_017617.5(NOTCH1):c.4675C>A (p.Leu1559Met)
NM_017617.5(NOTCH1):c.4685C>A (p.Ala1562Glu)
NM_017617.5(NOTCH1):c.4699G>A (p.Glu1567Lys) rs1333725995
NM_017617.5(NOTCH1):c.4740G>A (p.Met1580Ile) rs990474354
NM_017617.5(NOTCH1):c.4741C>T (p.Pro1581Ser) rs769288225
NM_017617.5(NOTCH1):c.4761C>G (p.Asn1587Lys)
NM_017617.5(NOTCH1):c.4763G>A (p.Ser1588Asn) rs1843055486
NM_017617.5(NOTCH1):c.4765T>C (p.Ser1589Pro) rs1490218456
NM_017617.5(NOTCH1):c.4773C>G (p.His1591Gln)
NM_017617.5(NOTCH1):c.4776C>A (p.Phe1592Leu) rs752861485
NM_017617.5(NOTCH1):c.4778T>C (p.Leu1593Pro)
NM_017617.5(NOTCH1):c.4790G>T (p.Ser1597Ile) rs1564190486
NM_017617.5(NOTCH1):c.4802A>G (p.His1601Arg) rs2133336705
NM_017617.5(NOTCH1):c.4815_4816insCCCCCC (p.Val1605_Phe1606insProPro)
NM_017617.5(NOTCH1):c.4820A>G (p.Lys1607Arg)
NM_017617.5(NOTCH1):c.4829C>T (p.Ala1610Val) rs1554727837
NM_017617.5(NOTCH1):c.4834G>A (p.Gly1612Ser) rs1166328821
NM_017617.5(NOTCH1):c.4853C>A (p.Pro1618His)
NM_017617.5(NOTCH1):c.4855TAC[1] (p.Tyr1620del)
NM_017617.5(NOTCH1):c.485A>G (p.Tyr162Cys)
NM_017617.5(NOTCH1):c.4870G>C (p.Glu1624Gln) rs1843052920
NM_017617.5(NOTCH1):c.4908G>T (p.Glu1636Asp) rs1275439825
NM_017617.5(NOTCH1):c.4915G>A (p.Ala1639Thr) rs878855026
NM_017617.5(NOTCH1):c.4927G>C (p.Ala1643Pro)
NM_017617.5(NOTCH1):c.4931T>C (p.Leu1644Pro)
NM_017617.5(NOTCH1):c.4941G>A (p.Gln1647=) rs1589058142
NM_017617.5(NOTCH1):c.4953GCT[1] (p.Leu1653del)
NM_017617.5(NOTCH1):c.4961C>A (p.Pro1654His) rs1381525257
NM_017617.5(NOTCH1):c.4969A>T (p.Ser1657Cys)
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.4987C>T (p.Arg1663Trp)
NM_017617.5(NOTCH1):c.4988G>T (p.Arg1663Leu)
NM_017617.5(NOTCH1):c.5006T>C (p.Met1669Thr)
NM_017617.5(NOTCH1):c.5007G>A (p.Met1669Ile)
NM_017617.5(NOTCH1):c.5018+5G>A
NM_017617.5(NOTCH1):c.5018+6_5018+9del
NM_017617.5(NOTCH1):c.5019-3C>T
NM_017617.5(NOTCH1):c.5026G>A (p.Val1676Ile) rs1261408162
NM_017617.5(NOTCH1):c.5057T>G (p.Val1686Gly)
NM_017617.5(NOTCH1):c.5101G>A (p.Ala1701Thr) rs1443819558
NM_017617.5(NOTCH1):c.5128G>C (p.Gly1710Arg)
NM_017617.5(NOTCH1):c.5137A>G (p.Asn1713Asp)
NM_017617.5(NOTCH1):c.5138A>C (p.Asn1713Thr) rs200053816
NM_017617.5(NOTCH1):c.5140A>G (p.Ile1714Val) rs2133333190
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys) rs750085425
NM_017617.5(NOTCH1):c.5161G>A (p.Val1721Met)
NM_017617.5(NOTCH1):c.5167+3A>G rs1025172473
NM_017617.5(NOTCH1):c.5168G>A (p.Ser1723Asn)
NM_017617.5(NOTCH1):c.5176G>A (p.Val1726Met)
NM_017617.5(NOTCH1):c.5181G>T (p.Glu1727Asp) rs1843014055
NM_017617.5(NOTCH1):c.5191C>A (p.Pro1731Thr)
NM_017617.5(NOTCH1):c.520A>C (p.Thr174Pro) rs771225163
NM_017617.5(NOTCH1):c.5211G>T (p.Met1737Ile)
NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser) rs864622062
NM_017617.5(NOTCH1):c.523T>G (p.Cys175Gly)
NM_017617.5(NOTCH1):c.5256C>G (p.Cys1752Trp)
NM_017617.5(NOTCH1):c.5270C>T (p.Ser1757Phe) rs1843012177
NM_017617.5(NOTCH1):c.5272C>G (p.Arg1758Gly) rs777859108
NM_017617.5(NOTCH1):c.527_528delinsTT (p.Arg176Leu) rs1564203258
NM_017617.5(NOTCH1):c.5285G>A (p.Arg1762Gln) rs942439472
NM_017617.5(NOTCH1):c.5296C>A (p.Gln1766Lys) rs1843011278
NM_017617.5(NOTCH1):c.5297A>G (p.Gln1766Arg)
NM_017617.5(NOTCH1):c.5299C>G (p.Leu1767Val)
NM_017617.5(NOTCH1):c.5326T>G (p.Ser1776Ala)
NM_017617.5(NOTCH1):c.5332G>C (p.Ala1778Pro) rs986394043
NM_017617.5(NOTCH1):c.5333C>G (p.Ala1778Gly) rs1422917398
NM_017617.5(NOTCH1):c.5350C>G (p.Arg1784Gly) rs1843010487
NM_017617.5(NOTCH1):c.5356C>T (p.Pro1786Ser) rs1843010413
NM_017617.5(NOTCH1):c.5362G>A (p.Gly1788Ser) rs1843010334
NM_017617.5(NOTCH1):c.5384+3G>C rs1843010026
NM_017617.5(NOTCH1):c.5385-2dup
NM_017617.5(NOTCH1):c.5385-3C>T
NM_017617.5(NOTCH1):c.5386C>T (p.Pro1796Ser)
NM_017617.5(NOTCH1):c.538A>G (p.Asn180Asp)
NM_017617.5(NOTCH1):c.5418G>A (p.Met1806Ile) rs556708225
NM_017617.5(NOTCH1):c.5423A>G (p.Asp1808Gly) rs1589056398
NM_017617.5(NOTCH1):c.5434G>A (p.Glu1812Lys) rs1843005451
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu) rs755659037
NM_017617.5(NOTCH1):c.5447A>G (p.Glu1816Gly) rs2133329831
NM_017617.5(NOTCH1):c.5455G>C (p.Glu1819Gln) rs2133329789
NM_017617.5(NOTCH1):c.5462A>G (p.Lys1821Arg)
NM_017617.5(NOTCH1):c.5470C>T (p.Arg1824Trp)
NM_017617.5(NOTCH1):c.5471G>T (p.Arg1824Leu)
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys) rs374103443
NM_017617.5(NOTCH1):c.5479G>A (p.Glu1827Lys)
NM_017617.5(NOTCH1):c.547G>C (p.Gly183Arg) rs1843399830
NM_017617.5(NOTCH1):c.5500C>G (p.Leu1834Val) rs73668312
NM_017617.5(NOTCH1):c.5508C>A (p.Asp1836Glu)
NM_017617.5(NOTCH1):c.5519A>G (p.His1840Arg)
NM_017617.5(NOTCH1):c.5535_5536delinsAA (p.Gln1846Lys) rs878855027
NM_017617.5(NOTCH1):c.5540A>C (p.His1847Pro) rs1843001736
NM_017617.5(NOTCH1):c.5563A>C (p.Met1855Leu)
NM_017617.5(NOTCH1):c.5567C>A (p.Ser1856Tyr)
NM_017617.5(NOTCH1):c.556C>T (p.Pro186Ser)
NM_017617.5(NOTCH1):c.5570C>G (p.Ala1857Gly) rs1370862526
NM_017617.5(NOTCH1):c.557C>T (p.Pro186Leu) rs2133377659
NM_017617.5(NOTCH1):c.5591A>G (p.Gln1864Arg)
NM_017617.5(NOTCH1):c.5594G>A (p.Gly1865Asp) rs2133328665
NM_017617.5(NOTCH1):c.5599G>T (p.Val1867Phe)
NM_017617.5(NOTCH1):c.5603A>T (p.Asp1868Val)
NM_017617.5(NOTCH1):c.5612G>T (p.Cys1871Phe)
NM_017617.5(NOTCH1):c.5630G>A (p.Arg1877His)
NM_017617.5(NOTCH1):c.5651C>T (p.Pro1884Leu) rs545259523
NM_017617.5(NOTCH1):c.5671A>G (p.Ser1891Gly) rs2133326726
NM_017617.5(NOTCH1):c.5678G>T (p.Gly1893Val) rs1292487339
NM_017617.5(NOTCH1):c.5697C>A (p.Asn1899Lys) rs747229390
NM_017617.5(NOTCH1):c.5698A>G (p.Ser1900Gly) rs200190466
NM_017617.5(NOTCH1):c.5712G>T (p.Glu1904Asp)
NM_017617.5(NOTCH1):c.5731T>C (p.Ser1911Pro) rs2133326413
NM_017617.5(NOTCH1):c.5739C>T (p.Phe1913=)
NM_017617.5(NOTCH1):c.5763C>G (p.His1921Gln)
NM_017617.5(NOTCH1):c.5766C>A (p.Asn1922Lys)
NM_017617.5(NOTCH1):c.5768A>G (p.Gln1923Arg) rs1842981791
NM_017617.5(NOTCH1):c.5780C>T (p.Thr1927Met) rs1554826860
NM_017617.5(NOTCH1):c.578G>T (p.Gly193Val) rs774966208
NM_017617.5(NOTCH1):c.5795T>C (p.Leu1932Ser) rs1842981231
NM_017617.5(NOTCH1):c.5806G>T (p.Ala1936Ser)
NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His) rs897872809
NM_017617.5(NOTCH1):c.5829C>A (p.Ala1943=) rs1036442909
NM_017617.5(NOTCH1):c.5836C>G (p.Arg1946Gly)
NM_017617.5(NOTCH1):c.5888C>A (p.Thr1963Asn)
NM_017617.5(NOTCH1):c.5899G>A (p.Ala1967Thr)
NM_017617.5(NOTCH1):c.5905G>A (p.Val1969Met) rs1842979490
NM_017617.5(NOTCH1):c.5920C>A (p.Gln1974Lys)
NM_017617.5(NOTCH1):c.5934+6C>T
NM_017617.5(NOTCH1):c.607C>T (p.Arg203Cys)
NM_017617.5(NOTCH1):c.6197T>G (p.Phe2066Cys)
NM_017617.5(NOTCH1):c.619C>T (p.Arg207Cys)
NM_017617.5(NOTCH1):c.62-3T>C rs2133406300
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His) rs779118023
NM_017617.5(NOTCH1):c.6219C>G (p.Ser2073Arg)
NM_017617.5(NOTCH1):c.6232A>G (p.Lys2078Glu) rs1186927156
NM_017617.5(NOTCH1):c.6254C>G (p.Ala2085Gly) rs1215496202
NM_017617.5(NOTCH1):c.6256A>T (p.Asn2086Tyr)
NM_017617.5(NOTCH1):c.6269C>T (p.Thr2090Met) rs1215473021
NM_017617.5(NOTCH1):c.6275A>C (p.His2092Pro) rs1554826539
NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu) rs756874994
NM_017617.5(NOTCH1):c.6310C>T (p.Arg2104Cys) rs1307220376
NM_017617.5(NOTCH1):c.6311G>A (p.Arg2104His) rs1842934984
NM_017617.5(NOTCH1):c.6342C>G (p.Asp2114Glu) rs746682300
NM_017617.5(NOTCH1):c.6365C>G (p.Pro2122Arg)
NM_017617.5(NOTCH1):c.6373C>T (p.His2125Tyr) rs2133318919
NM_017617.5(NOTCH1):c.637C>T (p.Pro213Ser)
NM_017617.5(NOTCH1):c.6392del (p.Gly2131fs)
NM_017617.5(NOTCH1):c.6393C>T (p.Gly2131=) rs1390112624
NM_017617.5(NOTCH1):c.6397C>A (p.Pro2133Thr) rs61733294
NM_017617.5(NOTCH1):c.6413dup (p.Leu2139fs) rs1842932983
NM_017617.5(NOTCH1):c.6424C>T (p.Pro2142Ser)
NM_017617.5(NOTCH1):c.6428A>G (p.Asn2143Ser) rs1085307778
NM_017617.5(NOTCH1):c.6451C>T (p.Pro2151Ser) rs1842932370
NM_017617.5(NOTCH1):c.6463G>A (p.Gly2155Ser) rs1035043614
NM_017617.5(NOTCH1):c.646G>A (p.Glu216Lys)
NM_017617.5(NOTCH1):c.6470A>C (p.Lys2157Thr) rs1564568574
NM_017617.5(NOTCH1):c.6489C>G (p.Ser2163Arg)
NM_017617.5(NOTCH1):c.6500C>A (p.Ala2167Asp)
NM_017617.5(NOTCH1):c.6503G>C (p.Cys2168Ser)
NM_017617.5(NOTCH1):c.6512A>G (p.Lys2171Arg)
NM_017617.5(NOTCH1):c.6517G>A (p.Ala2173Thr) rs1060502234
NM_017617.5(NOTCH1):c.6551A>G (p.Gln2184Arg) rs2133318027
NM_017617.5(NOTCH1):c.6552G>T (p.Gln2184His)
NM_017617.5(NOTCH1):c.6585C>T (p.Gly2195=) rs1842929880
NM_017617.5(NOTCH1):c.6593C>G (p.Ser2198Trp)
NM_017617.5(NOTCH1):c.6598G>A (p.Val2200Met)
NM_017617.5(NOTCH1):c.65C>G (p.Pro22Arg)
NM_017617.5(NOTCH1):c.6620A>G (p.His2207Arg)
NM_017617.5(NOTCH1):c.6647C>G (p.Pro2216Arg)
NM_017617.5(NOTCH1):c.6668T>C (p.Phe2223Ser) rs1842928462
NM_017617.5(NOTCH1):c.6706G>A (p.Gly2236Arg)
NM_017617.5(NOTCH1):c.670C>G (p.Pro224Ala)
NM_017617.5(NOTCH1):c.6712C>T (p.Pro2238Ser)
NM_017617.5(NOTCH1):c.6724C>G (p.Leu2242Val)
NM_017617.5(NOTCH1):c.6738C>G (p.His2246Gln) rs1842927243
NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val) rs377165086
NM_017617.5(NOTCH1):c.6740T>C (p.Leu2247Pro)
NM_017617.5(NOTCH1):c.6744C>G (p.Asn2248Lys) rs372771288
NM_017617.5(NOTCH1):c.6748G>A (p.Ala2250Thr) rs1436539393
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val) rs759225800
NM_017617.5(NOTCH1):c.6776G>T (p.Gly2259Val)
NM_017617.5(NOTCH1):c.677C>T (p.Pro226Leu) rs1843395886
NM_017617.5(NOTCH1):c.6791T>A (p.Leu2264Gln) rs2133317177
NM_017617.5(NOTCH1):c.6793G>C (p.Ala2265Pro)
NM_017617.5(NOTCH1):c.6810_6812del (p.Pro2271del)
NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile) rs1341934554
NM_017617.5(NOTCH1):c.6857T>A (p.Leu2286Gln)
NM_017617.5(NOTCH1):c.6869G>A (p.Ser2290Asn) rs763183789
NM_017617.5(NOTCH1):c.6869G>T (p.Ser2290Ile) rs763183789
NM_017617.5(NOTCH1):c.6880C>G (p.Leu2294Val)
NM_017617.5(NOTCH1):c.6905C>T (p.Thr2302Ile)
NM_017617.5(NOTCH1):c.6923G>T (p.Cys2308Phe)
NM_017617.5(NOTCH1):c.6924C>G (p.Cys2308Trp) rs756653663
NM_017617.5(NOTCH1):c.6944A>C (p.Gln2315Pro)
NM_017617.5(NOTCH1):c.6947G>A (p.Ser2316Asn)
NM_017617.5(NOTCH1):c.6950G>C (p.Gly2317Ala)
NM_017617.5(NOTCH1):c.6980G>C (p.Arg2327Pro)
NM_017617.5(NOTCH1):c.6986G>C (p.Ser2329Thr)
NM_017617.5(NOTCH1):c.7001C>G (p.Pro2334Arg)
NM_017617.5(NOTCH1):c.7010C>T (p.Thr2337Ile)
NM_017617.5(NOTCH1):c.7029G>C (p.Gln2343His)
NM_017617.5(NOTCH1):c.7036A>G (p.Met2346Val)
NM_017617.5(NOTCH1):c.7039_7047del (p.Val2347_Pro2349del)
NM_017617.5(NOTCH1):c.7042G>A (p.Gly2348Ser)
NM_017617.5(NOTCH1):c.7069A>T (p.Ser2357Cys)
NM_017617.5(NOTCH1):c.7072G>A (p.Ala2358Thr) rs780869345
NM_017617.5(NOTCH1):c.7110C>A (p.Ser2370Arg)
NM_017617.5(NOTCH1):c.7121C>T (p.Ala2374Val) rs2133316248
NM_017617.5(NOTCH1):c.7138G>C (p.Val2380Leu) rs769693988
NM_017617.5(NOTCH1):c.7145C>T (p.Thr2382Ile) rs1564567924
NM_017617.5(NOTCH1):c.7147C>T (p.Gln2383Ter) rs759362012
NM_017617.5(NOTCH1):c.715G>A (p.Val239Ile)
NM_017617.5(NOTCH1):c.7175T>A (p.Met2392Lys) rs1036612594
NM_017617.5(NOTCH1):c.7175T>C (p.Met2392Thr) rs1036612594
NM_017617.5(NOTCH1):c.7177C>G (p.Gln2393Glu)
NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg) rs1842918022
NM_017617.5(NOTCH1):c.7193A>G (p.Gln2398Arg) rs1564567879
NM_017617.5(NOTCH1):c.7198G>A (p.Ala2400Thr) rs1842917839
NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His) rs61751486
NM_017617.5(NOTCH1):c.7222C>G (p.Leu2408Val)
NM_017617.5(NOTCH1):c.7232CAC[6] (p.Pro2415dup) rs762336270
NM_017617.5(NOTCH1):c.7232CAC[7] (p.Pro2414_Pro2415dup) rs762336270
NM_017617.5(NOTCH1):c.7235C>G (p.Pro2412Arg) rs1842916921
NM_017617.5(NOTCH1):c.7261G>T (p.Val2421Leu)
NM_017617.5(NOTCH1):c.7279G>C (p.Gly2427Arg)
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp) rs886039031
NM_017617.5(NOTCH1):c.7327G>T (p.Val2443Leu) rs768311067
NM_017617.5(NOTCH1):c.7402C>A (p.Leu2468Met) rs2133315021
NM_017617.5(NOTCH1):c.7405C>T (p.Pro2469Ser)
NM_017617.5(NOTCH1):c.7417del (p.Val2473fs) rs2133314943
NM_017617.5(NOTCH1):c.7426G>A (p.Val2476Met) rs763785541
NM_017617.5(NOTCH1):c.7463A>G (p.His2488Arg)
NM_017617.5(NOTCH1):c.748A>T (p.Thr250Ser) rs551150550
NM_017617.5(NOTCH1):c.7507C>T (p.Gln2503Ter)
NM_017617.5(NOTCH1):c.7510G>A (p.Val2504Met) rs2133314443
NM_017617.5(NOTCH1):c.7529T>C (p.Leu2510Pro) rs1554826340
NM_017617.5(NOTCH1):c.752G>T (p.Gly251Val) rs749943647
NM_017617.5(NOTCH1):c.7532C>A (p.Thr2511Asn)
NM_017617.5(NOTCH1):c.753C>T (p.Gly251=)
NM_017617.5(NOTCH1):c.7549C>T (p.Pro2517Ser)
NM_017617.5(NOTCH1):c.760T>C (p.Cys254Arg)
NM_017617.5(NOTCH1):c.7622C>T (p.Thr2541Ile)
NM_017617.5(NOTCH1):c.7657G>A (p.Ala2553Thr) rs182522714
NM_017617.5(NOTCH1):c.7658C>T (p.Ala2553Val) rs2133313653
NM_017617.5(NOTCH1):c.769A>G (p.Asn257Asp)
NM_017617.5(NOTCH1):c.781T>C (p.Cys261Arg) rs2133372814
NM_017617.5(NOTCH1):c.788G>T (p.Gly263Val)
NM_017617.5(NOTCH1):c.804C>A (p.Asn268Lys)
NM_017617.5(NOTCH1):c.824G>C (p.Gly275Ala)
NM_017617.5(NOTCH1):c.829A>G (p.Asn277Asp)
NM_017617.5(NOTCH1):c.830A>G (p.Asn277Ser)
NM_017617.5(NOTCH1):c.865+11G>A
NM_017617.5(NOTCH1):c.865+2C>T rs1164392989
NM_017617.5(NOTCH1):c.865+4C>T rs527248111
NM_017617.5(NOTCH1):c.866G>C (p.Gly289Ala)
NM_017617.5(NOTCH1):c.892G>C (p.Glu298Gln) rs1060502232
NM_017617.5(NOTCH1):c.900G>C (p.Gln300His)
NM_017617.5(NOTCH1):c.902T>C (p.Leu301Pro)
NM_017617.5(NOTCH1):c.924C>G (p.Asn308Lys)
NM_017617.5(NOTCH1):c.961T>C (p.Cys321Arg) rs1843318767
NM_017617.5(NOTCH1):c.98A>G (p.Asn33Ser) rs2133406228

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