ClinVar Miner

List of variants in gene NOTCH1 reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 789
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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.2206G>A (p.Gly736Arg) rs201662530 0.00013
NM_017617.5(NOTCH1):c.2352C>T (p.Ser784=) rs774701000 0.00011
NM_017617.5(NOTCH1):c.2359A>G (p.Asn787Asp) rs199672693 0.00011
NM_017617.5(NOTCH1):c.1554G>A (p.Thr518=) rs190721271 0.00006
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.2969+6C>T rs368973940 0.00004
NM_017617.5(NOTCH1):c.3900C>T (p.Thr1300=) rs201791826 0.00004
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met) rs369721921 0.00004
NM_017617.5(NOTCH1):c.2014+6C>T rs529806324 0.00003
NM_017617.5(NOTCH1):c.3110A>C (p.Gln1037Pro) rs1408874772 0.00003
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350 0.00003
NM_017617.5(NOTCH1):c.4013C>T (p.Ala1338Val) rs1397249771 0.00003
NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser) rs1226514285 0.00003
NM_017617.5(NOTCH1):c.5716G>A (p.Ala1906Thr) rs779880917 0.00003
NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs) rs763016003 0.00003
NM_017617.5(NOTCH1):c.1441+4C>T rs764082065 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.2453T>C (p.Leu818Pro) rs1298965823 0.00002
NM_017617.5(NOTCH1):c.274G>C (p.Gly92Arg) rs1397413424 0.00002
NM_017617.5(NOTCH1):c.3269C>G (p.Thr1090Ser) rs761508282 0.00002
NM_017617.5(NOTCH1):c.4025G>A (p.Gly1342Asp) rs775187426 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.5050C>A (p.Gln1684Lys) rs1843029493 0.00002
NM_017617.5(NOTCH1):c.5176G>A (p.Val1726Met) rs995707317 0.00002
NM_017617.5(NOTCH1):c.5285G>A (p.Arg1762Gln) rs942439472 0.00002
NM_017617.5(NOTCH1):c.5385-3C>T rs1319288424 0.00002
NM_017617.5(NOTCH1):c.5418G>A (p.Met1806Ile) rs556708225 0.00002
NM_017617.5(NOTCH1):c.5471G>A (p.Arg1824Gln) rs765309913 0.00002
NM_017617.5(NOTCH1):c.7463A>G (p.His2488Arg) rs1208693439 0.00002
NM_017617.5(NOTCH1):c.1242T>G (p.Asp414Glu) rs1843307597 0.00001
NM_017617.5(NOTCH1):c.1533G>T (p.Glu511Asp) rs759834538 0.00001
NM_017617.5(NOTCH1):c.1555+6G>A rs756829846 0.00001
NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn) rs757988142 0.00001
NM_017617.5(NOTCH1):c.1618G>C (p.Gly540Arg) rs1006356840 0.00001
NM_017617.5(NOTCH1):c.1636G>A (p.Gly546Arg) rs764185451 0.00001
NM_017617.5(NOTCH1):c.1669+4C>T rs1227337588 0.00001
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616 0.00001
NM_017617.5(NOTCH1):c.1684C>T (p.His562Tyr) rs1843256337 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.1903+15G>A rs1261060825 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.2074A>G (p.Thr692Ala) rs1385815860 0.00001
NM_017617.5(NOTCH1):c.2128G>A (p.Asp710Asn) rs950236535 0.00001
NM_017617.5(NOTCH1):c.2185G>T (p.Ala729Ser) rs1400821402 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.2266G>A (p.Glu756Lys) rs1271941628 0.00001
NM_017617.5(NOTCH1):c.2296G>C (p.Gly766Arg) rs768836936 0.00001
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp) rs1589064290 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.262A>G (p.Ser88Gly) rs1843416741 0.00001
NM_017617.5(NOTCH1):c.2759G>A (p.Gly920Asp) rs1158774637 0.00001
NM_017617.5(NOTCH1):c.2890G>A (p.Val964Met) rs780251851 0.00001
NM_017617.5(NOTCH1):c.2969+18G>A rs770901845 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.3137C>A (p.Thr1046Asn) rs1316963008 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.3442G>A (p.Glu1148Lys) rs1060502239 0.00001
NM_017617.5(NOTCH1):c.347C>T (p.Thr116Ile) rs1308100068 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.3556G>A (p.Glu1186Lys) rs1013688544 0.00001
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg) rs775438678 0.00001
NM_017617.5(NOTCH1):c.3707C>T (p.Pro1236Leu) rs1241855040 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.3832G>A (p.Ala1278Thr) rs1406056612 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.3880G>A (p.Glu1294Lys) rs1247035429 0.00001
NM_017617.5(NOTCH1):c.3901G>A (p.Gly1301Arg) rs1227711223 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.403+3G>A rs1484486786 0.00001
NM_017617.5(NOTCH1):c.4052C>T (p.Thr1351Ile) rs1357611221 0.00001
NM_017617.5(NOTCH1):c.4081G>A (p.Gly1361Ser) rs1843074866 0.00001
NM_017617.5(NOTCH1):c.4099C>A (p.Pro1367Thr) rs1197737936 0.00001
NM_017617.5(NOTCH1):c.4162A>C (p.Ser1388Arg) rs2133340569 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.4411G>T (p.Ala1471Ser) rs1414066424 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.4588C>T (p.Pro1530Ser) rs750808945 0.00001
NM_017617.5(NOTCH1):c.4627G>A (p.Gly1543Arg) rs533102436 0.00001
NM_017617.5(NOTCH1):c.4654G>A (p.Ala1552Thr) rs1438164851 0.00001
NM_017617.5(NOTCH1):c.4699G>A (p.Glu1567Lys) rs1333725995 0.00001
NM_017617.5(NOTCH1):c.4742C>T (p.Pro1581Leu) rs746431035 0.00001
NM_017617.5(NOTCH1):c.4773C>G (p.His1591Gln) rs1228910844 0.00001
NM_017617.5(NOTCH1):c.4820A>G (p.Lys1607Arg) rs1005968621 0.00001
NM_017617.5(NOTCH1):c.4865G>A (p.Arg1622His) rs778271353 0.00001
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu) rs1243453790 0.00001
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) rs774808496 0.00001
NM_017617.5(NOTCH1):c.4987C>T (p.Arg1663Trp) rs769050541 0.00001
NM_017617.5(NOTCH1):c.499C>T (p.Pro167Ser) rs1439038323 0.00001
NM_017617.5(NOTCH1):c.5007G>A (p.Met1669Ile) rs1045824529 0.00001
NM_017617.5(NOTCH1):c.5019-3C>T rs1470109921 0.00001
NM_017617.5(NOTCH1):c.5026G>A (p.Val1676Ile) rs1261408162 0.00001
NM_017617.5(NOTCH1):c.5057T>G (p.Val1686Gly) rs921318644 0.00001
NM_017617.5(NOTCH1):c.5128G>C (p.Gly1710Arg) rs2133333251 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.5321A>G (p.Lys1774Arg) rs763760510 0.00001
NM_017617.5(NOTCH1):c.5332G>C (p.Ala1778Pro) rs986394043 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.5452C>G (p.Leu1818Val) rs1064796983 0.00001
NM_017617.5(NOTCH1):c.5455G>C (p.Glu1819Gln) rs2133329789 0.00001
NM_017617.5(NOTCH1):c.5470C>T (p.Arg1824Trp) rs775793303 0.00001
NM_017617.5(NOTCH1):c.5479G>A (p.Glu1827Lys) rs1459805992 0.00001
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro) rs1085307869 0.00001
NM_017617.5(NOTCH1):c.5522G>A (p.Arg1841Gln) rs1290643339 0.00001
NM_017617.5(NOTCH1):c.5563A>C (p.Met1855Leu) rs1842999177 0.00001
NM_017617.5(NOTCH1):c.5570C>G (p.Ala1857Gly) rs1370862526 0.00001
NM_017617.5(NOTCH1):c.5603A>T (p.Asp1868Val) rs1478084229 0.00001
NM_017617.5(NOTCH1):c.5629C>T (p.Arg1877Cys) rs1446708596 0.00001
NM_017617.5(NOTCH1):c.5651C>T (p.Pro1884Leu) rs545259523 0.00001
NM_017617.5(NOTCH1):c.5698A>G (p.Ser1900Gly) rs200190466 0.00001
NM_017617.5(NOTCH1):c.5804C>T (p.Ala1935Val) rs374787627 0.00001
NM_017617.5(NOTCH1):c.5836C>T (p.Arg1946Cys) rs1440167765 0.00001
NM_017617.5(NOTCH1):c.5934+6C>T rs1186676322 0.00001
NM_017617.5(NOTCH1):c.6197T>G (p.Phe2066Cys) rs1842936930 0.00001
NM_017617.5(NOTCH1):c.6256A>T (p.Asn2086Tyr) rs1842936029 0.00001
NM_017617.5(NOTCH1):c.6293G>A (p.Arg2098His) rs759998676 0.00001
NM_017617.5(NOTCH1):c.6311G>A (p.Arg2104His) rs1842934984 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.6424C>T (p.Pro2142Ser) rs764176079 0.00001
NM_017617.5(NOTCH1):c.646G>A (p.Glu216Lys) rs1317233337 0.00001
NM_017617.5(NOTCH1):c.6487A>C (p.Ser2163Arg) rs1432824285 0.00001
NM_017617.5(NOTCH1):c.650G>A (p.Arg217Gln) rs1392605424 0.00001
NM_017617.5(NOTCH1):c.6552G>T (p.Gln2184His) rs1842930688 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.6758C>T (p.Pro2253Leu) rs1204397173 0.00001
NM_017617.5(NOTCH1):c.6812C>T (p.Pro2271Leu) rs1223321022 0.00001
NM_017617.5(NOTCH1):c.6857T>A (p.Leu2286Gln) rs916561985 0.00001
NM_017617.5(NOTCH1):c.6867C>A (p.Ser2289Arg) rs1131691923 0.00001
NM_017617.5(NOTCH1):c.6868A>G (p.Ser2290Gly) rs1842924133 0.00001
NM_017617.5(NOTCH1):c.68G>C (p.Arg23Pro) rs869025260 0.00001
NM_017617.5(NOTCH1):c.7019C>T (p.Pro2340Leu) rs1254082910 0.00001
NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser) rs1325758824 0.00001
NM_017617.5(NOTCH1):c.712G>A (p.Asp238Asn) rs550554578 0.00001
NM_017617.5(NOTCH1):c.715G>A (p.Val239Ile) rs746827857 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.7279G>C (p.Gly2427Arg) rs370722609 0.00001
NM_017617.5(NOTCH1):c.7405C>T (p.Pro2469Ser) rs1480618339 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.7545G>T (p.Glu2515Asp) rs1365732147 0.00001
NM_017617.5(NOTCH1):c.865+5G>A rs1307085130 0.00001
NM_017617.5(NOTCH1):c.866-3C>T rs950602055 0.00001
NC_000009.11:g.(?_139390513)_(139440248_?)dup
NC_000009.11:g.(?_139390523)_(139418451_?)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.1004A>G (p.Asn335Ser)
NM_017617.5(NOTCH1):c.1017T>G (p.Cys339Trp) rs2133370939
NM_017617.5(NOTCH1):c.1018G>A (p.Ala340Thr) rs2133370928
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.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.1145A>G (p.Asn382Ser)
NM_017617.5(NOTCH1):c.121A>C (p.Asn41His)
NM_017617.5(NOTCH1):c.122A>G (p.Asn41Ser)
NM_017617.5(NOTCH1):c.1277C>G (p.Ala426Gly) rs528033027
NM_017617.5(NOTCH1):c.1283A>G (p.Lys428Arg)
NM_017617.5(NOTCH1):c.1295C>G (p.Thr432Arg) rs200562991
NM_017617.5(NOTCH1):c.1363G>A (p.Glu455Lys) rs1554729950
NM_017617.5(NOTCH1):c.1369G>T (p.Val457Phe) rs573153379
NM_017617.5(NOTCH1):c.1379C>T (p.Pro460Leu) rs776258761
NM_017617.5(NOTCH1):c.1385A>G (p.Gln462Arg) rs2133368487
NM_017617.5(NOTCH1):c.1388A>G (p.Asn463Ser)
NM_017617.5(NOTCH1):c.142T>A (p.Cys48Ser) rs2133379887
NM_017617.5(NOTCH1):c.1440C>A (p.Pro480=) rs61751555
NM_017617.5(NOTCH1):c.1441G>A (p.Gly481Ser) rs1448146225
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) rs2540459697
NM_017617.5(NOTCH1):c.1477G>A (p.Glu493Lys) rs1554729862
NM_017617.5(NOTCH1):c.1477G>C (p.Glu493Gln) rs1554729862
NM_017617.5(NOTCH1):c.1483_1484delinsAA (p.Ala495Asn) rs2540459684
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) rs2540459621
NM_017617.5(NOTCH1):c.1527C>G (p.Ile509Met) rs2133367383
NM_017617.5(NOTCH1):c.1528A>G (p.Asn510Asp) rs551200410
NM_017617.5(NOTCH1):c.1539G>C (p.Gln513His) rs747069934
NM_017617.5(NOTCH1):c.1555+5G>A rs2540459569
NM_017617.5(NOTCH1):c.1556-8G>A rs776434236
NM_017617.5(NOTCH1):c.1577A>G (p.Gln526Arg) rs2133365423
NM_017617.5(NOTCH1):c.1601G>A (p.Ser534Asn) rs2133365307
NM_017617.5(NOTCH1):c.1644C>G (p.Asn548Lys)
NM_017617.5(NOTCH1):c.1648T>C (p.Tyr550His) rs1843262478
NM_017617.5(NOTCH1):c.1661G>A (p.Cys554Tyr) rs2133365061
NM_017617.5(NOTCH1):c.1663A>C (p.Thr555Pro)
NM_017617.5(NOTCH1):c.1669+3G>A rs2133365020
NM_017617.5(NOTCH1):c.1669+4C>A rs1227337588
NM_017617.5(NOTCH1):c.1670-7G>A rs1242028632
NM_017617.5(NOTCH1):c.1679G>A (p.Gly560Glu) rs2133364377
NM_017617.5(NOTCH1):c.1698C>G (p.Asp566Glu) rs541992446
NM_017617.5(NOTCH1):c.1701C>G (p.Ile567Met) rs773932034
NM_017617.5(NOTCH1):c.170G>A (p.Cys57Tyr) rs2133379776
NM_017617.5(NOTCH1):c.1720C>T (p.Pro574Ser)
NM_017617.5(NOTCH1):c.1756A>G (p.Thr586Ala) rs764854903
NM_017617.5(NOTCH1):c.1769T>G (p.Leu590Arg) rs2133363935
NM_017617.5(NOTCH1):c.1792C>T (p.His598Tyr) rs1589066307
NM_017617.5(NOTCH1):c.1797C>A (p.His599Gln) rs1470946559
NM_017617.5(NOTCH1):c.1799G>T (p.Cys600Phe) rs1843252800
NM_017617.5(NOTCH1):c.1808_1810del (p.Asn603del)
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) rs2133363399
NM_017617.5(NOTCH1):c.1884C>G (p.Phe628Leu)
NM_017617.5(NOTCH1):c.1888C>G (p.Leu630Val) rs2133363294
NM_017617.5(NOTCH1):c.1892A>G (p.Lys631Arg) rs1286621388
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+6C>G rs753388966
NM_017617.5(NOTCH1):c.1904-3C>T rs748118679
NM_017617.5(NOTCH1):c.1906C>T (p.Pro636Ser) rs2133362878
NM_017617.5(NOTCH1):c.1927G>A (p.Asp643Asn)
NM_017617.5(NOTCH1):c.1936G>A (p.Ala646Thr) rs1238304834
NM_017617.5(NOTCH1):c.1945C>T (p.Pro649Ser) rs780710009
NM_017617.5(NOTCH1):c.1960A>G (p.Thr654Ala)
NM_017617.5(NOTCH1):c.1988A>G (p.Glu663Gly) rs1468283318
NM_017617.5(NOTCH1):c.1991G>A (p.Cys664Tyr)
NM_017617.5(NOTCH1):c.199C>T (p.Pro67Ser) rs2133379665
NM_017617.5(NOTCH1):c.200C>T (p.Pro67Leu) rs1843418088
NM_017617.5(NOTCH1):c.2012C>A (p.Thr671Lys) rs2133362310
NM_017617.5(NOTCH1):c.2012C>T (p.Thr671Ile) rs2133362310
NM_017617.5(NOTCH1):c.2013A>C (p.Thr671=)
NM_017617.5(NOTCH1):c.2019C>A (p.Ser673Arg)
NM_017617.5(NOTCH1):c.2039A>G (p.Asp680Gly) rs2133361218
NM_017617.5(NOTCH1):c.2041G>A (p.Glu681Lys) rs2133361207
NM_017617.5(NOTCH1):c.2051G>C (p.Gly684Ala) rs1468929774
NM_017617.5(NOTCH1):c.2053A>T (p.Asn685Tyr) rs2133361155
NM_017617.5(NOTCH1):c.2054A>C (p.Asn685Thr) rs781473342
NM_017617.5(NOTCH1):c.2054A>G (p.Asn685Ser) rs781473342
NM_017617.5(NOTCH1):c.2066A>G (p.Asn689Ser) rs2133361106
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) rs892114222
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser) rs1843232044
NM_017617.5(NOTCH1):c.2185G>A (p.Ala729Thr) rs1400821402
NM_017617.5(NOTCH1):c.2185_2186delinsAA (p.Ala729Asn)
NM_017617.5(NOTCH1):c.2186C>T (p.Ala729Val) rs1843231402
NM_017617.5(NOTCH1):c.2208-3C>T
NM_017617.5(NOTCH1):c.2210A>T (p.Tyr737Phe) rs2540453154
NM_017617.5(NOTCH1):c.2220C>A (p.Asp740Glu) rs2540453133
NM_017617.5(NOTCH1):c.2226C>G (p.Asp742Glu) rs201889382
NM_017617.5(NOTCH1):c.2254A>G (p.Ile752Val)
NM_017617.5(NOTCH1):c.2257A>C (p.Asn753His) rs2540453049
NM_017617.5(NOTCH1):c.2264A>G (p.Asn755Ser)
NM_017617.5(NOTCH1):c.2280C>A (p.Asn760Lys) rs371287009
NM_017617.5(NOTCH1):c.2293G>A (p.Gly765Ser) rs993388875
NM_017617.5(NOTCH1):c.2314A>C (p.Thr772Pro) rs2540452884
NM_017617.5(NOTCH1):c.2315C>A (p.Thr772Asn) rs1843214365
NM_017617.5(NOTCH1):c.2318G>A (p.Ser773Asn) rs758073507
NM_017617.5(NOTCH1):c.2318G>C (p.Ser773Thr) rs758073507
NM_017617.5(NOTCH1):c.2326_2328del (p.Val776del) rs2540452840
NM_017617.5(NOTCH1):c.2336G>C (p.Cys779Ser) rs1383539192
NM_017617.5(NOTCH1):c.2351G>C (p.Ser784Thr) rs2133358546
NM_017617.5(NOTCH1):c.235C>T (p.Arg79Cys) rs761439288
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His) rs768517628
NM_017617.5(NOTCH1):c.2377_2379del (p.Asn793del) rs587778561
NM_017617.5(NOTCH1):c.2378A>T (p.Asn793Ile) rs1255941144
NM_017617.5(NOTCH1):c.2379C>G (p.Asn793Lys) rs200565505
NM_017617.5(NOTCH1):c.2405A>G (p.Asn802Ser) rs2133358091
NM_017617.5(NOTCH1):c.2410G>C (p.Gly804Arg) rs766438580
NM_017617.5(NOTCH1):c.2414C>G (p.Thr805Arg)
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) rs749152413
NM_017617.5(NOTCH1):c.2435G>C (p.Gly812Ala) rs1843208318
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=) rs755286299
NM_017617.5(NOTCH1):c.2467+6G>A
NM_017617.5(NOTCH1):c.2468-5C>A rs932196144
NM_017617.5(NOTCH1):c.2480_2500del (p.Glu827_Cys833del)
NM_017617.5(NOTCH1):c.2491G>A (p.Ala831Thr) rs1221479422
NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly) rs202144877
NM_017617.5(NOTCH1):c.2504_2506del (p.Pro835_Ser836delinsArg) rs2540449418
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.2530T>C (p.Cys844Arg)
NM_017617.5(NOTCH1):c.2540C>G (p.Ser847Cys) rs751138076
NM_017617.5(NOTCH1):c.254A>G (p.Tyr85Cys) rs2133379458
NM_017617.5(NOTCH1):c.2551G>C (p.Glu851Gln)
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.2566G>A (p.Val856Ile)
NM_017617.5(NOTCH1):c.256G>T (p.Ala86Ser) rs373941045
NM_017617.5(NOTCH1):c.2608A>G (p.Ile870Val)
NM_017617.5(NOTCH1):c.260G>A (p.Cys87Tyr) rs2133379435
NM_017617.5(NOTCH1):c.2613C>G (p.Asn871Lys) rs767614547
NM_017617.5(NOTCH1):c.2623C>A (p.Leu875Met) rs2133353482
NM_017617.5(NOTCH1):c.2647T>A (p.Ser883Thr)
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) rs1843166673
NM_017617.5(NOTCH1):c.2677T>G (p.Cys893Gly) rs1843166673
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.2701G>A (p.Gly901Arg)
NM_017617.5(NOTCH1):c.2702G>A (p.Gly901Glu) rs2133353055
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.2722A>G (p.Ile908Val)
NM_017617.5(NOTCH1):c.272T>C (p.Leu91Pro) rs2133379380
NM_017617.5(NOTCH1):c.2743C>G (p.Pro915Ala) rs878855024
NM_017617.5(NOTCH1):c.2768C>T (p.Thr923Ile) rs1185244056
NM_017617.5(NOTCH1):c.277T>G (p.Phe93Val) rs1404441316
NM_017617.5(NOTCH1):c.2806G>C (p.Gly936Arg) rs773847667
NM_017617.5(NOTCH1):c.2834A>T (p.Asp945Val) rs2540446101
NM_017617.5(NOTCH1):c.2839_2841del (p.Asn947del) rs2540446058
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.2891T>A (p.Val964Glu)
NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn) rs1843149230
NM_017617.5(NOTCH1):c.2917G>T (p.Ala973Ser)
NM_017617.5(NOTCH1):c.2918C>T (p.Ala973Val) rs770226987
NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala) rs1843147969
NM_017617.5(NOTCH1):c.2952G>C (p.Thr984=) rs373168397
NM_017617.5(NOTCH1):c.2963C>T (p.Thr988Ile) rs1843147704
NM_017617.5(NOTCH1):c.2969+2TG[3] rs2540445545
NM_017617.5(NOTCH1):c.299C>T (p.Thr100Ile) rs753051783
NM_017617.5(NOTCH1):c.3016A>T (p.Thr1006Ser) rs1589061437
NM_017617.5(NOTCH1):c.305T>G (p.Leu102Arg) rs2133379239
NM_017617.5(NOTCH1):c.3061G>C (p.Asp1021His) rs760908627
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.3120C>G (p.Cys1040Trp)
NM_017617.5(NOTCH1):c.3125C>A (p.Ser1042Tyr)
NM_017617.5(NOTCH1):c.3140G>A (p.Cys1047Tyr) rs1843132240
NM_017617.5(NOTCH1):c.3143C>A (p.Pro1048His) rs1843132078
NM_017617.5(NOTCH1):c.3143C>T (p.Pro1048Leu)
NM_017617.5(NOTCH1):c.3155C>T (p.Thr1052Ile) rs1223895336
NM_017617.5(NOTCH1):c.3161C>T (p.Pro1054Leu)
NM_017617.5(NOTCH1):c.3165C>A (p.Asn1055Lys) rs1431940702
NM_017617.5(NOTCH1):c.3171+3G>A rs1431447273
NM_017617.5(NOTCH1):c.3171+6del rs2540444099
NM_017617.5(NOTCH1):c.3181C>T (p.His1061Tyr) rs766126767
NM_017617.5(NOTCH1):c.3193T>C (p.Ser1065Pro)
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) rs1010573276
NM_017617.5(NOTCH1):c.323C>T (p.Thr108Ile)
NM_017617.5(NOTCH1):c.3245G>T (p.Arg1082Leu) rs758471372
NM_017617.5(NOTCH1):c.3250G>A (p.Glu1084Lys)
NM_017617.5(NOTCH1):c.3250G>C (p.Glu1084Gln) rs766361207
NM_017617.5(NOTCH1):c.3257C>G (p.Pro1086Arg) rs1843122298
NM_017617.5(NOTCH1):c.3260G>A (p.Ser1087Asn) rs1843122224
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg) rs531420022
NM_017617.5(NOTCH1):c.3263G>A (p.Gly1088Asp) rs2133347328
NM_017617.5(NOTCH1):c.3271G>T (p.Gly1091Cys) rs768095251
NM_017617.5(NOTCH1):c.3295G>A (p.Val1099Met) rs1843121423
NM_017617.5(NOTCH1):c.3295G>T (p.Val1099Leu) rs1843121423
NM_017617.5(NOTCH1):c.3325+20_3325+21inv
NM_017617.5(NOTCH1):c.3326G>C (p.Gly1109Ala) rs772310059
NM_017617.5(NOTCH1):c.3328G>A (p.Val1110Ile) rs778969906
NM_017617.5(NOTCH1):c.3344T>C (p.Leu1115Pro) rs2540442500
NM_017617.5(NOTCH1):c.3353A>G (p.His1118Arg) rs1843118145
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.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) rs2540442398
NM_017617.5(NOTCH1):c.3403G>A (p.Ala1135Thr) rs1554728380
NM_017617.5(NOTCH1):c.3421T>C (p.Tyr1141His)
NM_017617.5(NOTCH1):c.3451C>T (p.Pro1151Ser) rs2540442293
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) rs373549877
NM_017617.5(NOTCH1):c.3497G>T (p.Gly1166Val)
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) rs2133345304
NM_017617.5(NOTCH1):c.3537C>G (p.Asn1179Lys) rs1589060346
NM_017617.5(NOTCH1):c.3539G>A (p.Cys1180Tyr) rs1218904003
NM_017617.5(NOTCH1):c.3541T>C (p.Ser1181Pro) rs2540441370
NM_017617.5(NOTCH1):c.3544GAG[1] (p.Glu1183del) rs1370411882
NM_017617.5(NOTCH1):c.3550A>T (p.Ile1184Phe) rs1843105963
NM_017617.5(NOTCH1):c.3551T>C (p.Ile1184Thr) rs1843105924
NM_017617.5(NOTCH1):c.356T>C (p.Leu119Pro)
NM_017617.5(NOTCH1):c.3596T>C (p.Leu1199Pro) rs2540441220
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.3658A>G (p.Ile1220Val)
NM_017617.5(NOTCH1):c.3667G>T (p.Asp1223Tyr) rs373064962
NM_017617.5(NOTCH1):c.3683C>T (p.Pro1228Leu) rs561646185
NM_017617.5(NOTCH1):c.3689A>C (p.Asp1230Ala) rs2133344149
NM_017617.5(NOTCH1):c.3692C>A (p.Pro1231His) rs2133344139
NM_017617.5(NOTCH1):c.3715T>C (p.Phe1239Leu) rs1478449371
NM_017617.5(NOTCH1):c.3723C>G (p.Asn1241Lys)
NM_017617.5(NOTCH1):c.3725G>C (p.Gly1242Ala) rs2133343983
NM_017617.5(NOTCH1):c.3728C>T (p.Thr1243Ile) rs1474959824
NM_017617.5(NOTCH1):c.3730T>G (p.Cys1244Gly) rs1843095358
NM_017617.5(NOTCH1):c.3732C>G (p.Cys1244Trp) rs746262173
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) rs200245794
NM_017617.5(NOTCH1):c.3778G>T (p.Val1260Leu) rs751169922
NM_017617.5(NOTCH1):c.3812G>A (p.Cys1271Tyr) rs2133343553
NM_017617.5(NOTCH1):c.3850T>C (p.Cys1284Arg)
NM_017617.5(NOTCH1):c.3852C>G (p.Cys1284Trp) rs377289044
NM_017617.5(NOTCH1):c.3868G>A (p.Asp1290Asn) rs1472162732
NM_017617.5(NOTCH1):c.3870C>G (p.Asp1290Glu) rs1843092231
NM_017617.5(NOTCH1):c.3874C>A (p.His1292Asn)
NM_017617.5(NOTCH1):c.3886C>A (p.Arg1296Ser) rs1056341092
NM_017617.5(NOTCH1):c.3890C>T (p.Ala1297Val) rs926571912
NM_017617.5(NOTCH1):c.389C>G (p.Pro130Arg)
NM_017617.5(NOTCH1):c.3900C>G (p.Thr1300=) rs201791826
NM_017617.5(NOTCH1):c.3901+4G>A rs2133343113
NM_017617.5(NOTCH1):c.3901+5G>A rs2133343109
NM_017617.5(NOTCH1):c.3913G>C (p.Glu1305Gln) rs775602958
NM_017617.5(NOTCH1):c.3936A>C (p.Lys1312Asn) rs892185309
NM_017617.5(NOTCH1):c.394G>A (p.Gly132Ser) rs761748180
NM_017617.5(NOTCH1):c.3974C>A (p.Ala1325Asp) rs896438598
NM_017617.5(NOTCH1):c.4001G>A (p.Cys1334Tyr) rs2133342406
NM_017617.5(NOTCH1):c.4014G>C (p.Ala1338=) rs377217445
NM_017617.5(NOTCH1):c.4015-6G>A rs1843076919
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala) rs1131692021
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.4091T>C (p.Ile1364Thr) rs2133340963
NM_017617.5(NOTCH1):c.4112C>T (p.Thr1371Ile) rs1843074041
NM_017617.5(NOTCH1):c.4118T>C (p.Leu1373Pro)
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.4169C>T (p.Pro1390Leu) rs1042030863
NM_017617.5(NOTCH1):c.4181G>A (p.Gly1394Asp) rs1329672903
NM_017617.5(NOTCH1):c.4185C>A (p.Asn1395Lys) rs749570626
NM_017617.5(NOTCH1):c.4187C>A (p.Pro1396His)
NM_017617.5(NOTCH1):c.4205C>T (p.Thr1402Ile)
NM_017617.5(NOTCH1):c.4213C>T (p.Pro1405Ser) rs1416597670
NM_017617.5(NOTCH1):c.4214C>T (p.Pro1405Leu) rs2133340337
NM_017617.5(NOTCH1):c.4228C>T (p.Pro1410Ser) rs1335014494
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.4249C>T (p.Pro1417Ser) rs1481418937
NM_017617.5(NOTCH1):c.4282C>G (p.Leu1428Val) rs1363126385
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.4306G>T (p.Ala1436Ser)
NM_017617.5(NOTCH1):c.4312C>A (p.Arg1438Ser) rs746077264
NM_017617.5(NOTCH1):c.4321C>A (p.Pro1441Thr)
NM_017617.5(NOTCH1):c.4327C>A (p.Pro1443Thr) rs2133339744
NM_017617.5(NOTCH1):c.4369G>T (p.Asp1457Tyr)
NM_017617.5(NOTCH1):c.436_450dup (p.Ala150_Asn151insSerAsnProCysAla) rs2540468533
NM_017617.5(NOTCH1):c.4373C>A (p.Ala1458Glu)
NM_017617.5(NOTCH1):c.4383G>T (p.Lys1461Asn) rs2133339457
NM_017617.5(NOTCH1):c.4384G>A (p.Val1462Ile) rs1295977045
NM_017617.5(NOTCH1):c.4392C>G (p.Ser1464Arg)
NM_017617.5(NOTCH1):c.4393C>G (p.Leu1465Val) rs779863069
NM_017617.5(NOTCH1):c.4400G>A (p.Cys1467Tyr)
NM_017617.5(NOTCH1):c.4411G>A (p.Ala1471Thr) rs1414066424
NM_017617.5(NOTCH1):c.4412C>A (p.Ala1471Glu) rs376799353
NM_017617.5(NOTCH1):c.4412C>G (p.Ala1471Gly) rs376799353
NM_017617.5(NOTCH1):c.4441_4443del (p.Leu1481del)
NM_017617.5(NOTCH1):c.4444A>G (p.Asn1482Asp) rs1843065776
NM_017617.5(NOTCH1):c.4445A>G (p.Asn1482Ser)
NM_017617.5(NOTCH1):c.4449C>G (p.Phe1483Leu) rs1843065620
NM_017617.5(NOTCH1):c.4450A>G (p.Asn1484Asp) rs2133339098
NM_017617.5(NOTCH1):c.4467C>G (p.Asn1489Lys) rs773323801
NM_017617.5(NOTCH1):c.4468T>G (p.Cys1490Gly) rs1843065225
NM_017617.5(NOTCH1):c.4481T>G (p.Leu1494Arg) rs2133338958
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) rs1843064149
NM_017617.5(NOTCH1):c.4537G>C (p.Gly1513Arg)
NM_017617.5(NOTCH1):c.4552G>A (p.Gly1518Ser)
NM_017617.5(NOTCH1):c.4568G>T (p.Arg1523Leu) rs367589813
NM_017617.5(NOTCH1):c.4577G>C (p.Gly1526Ala)
NM_017617.5(NOTCH1):c.4586+6G>T rs1343846565
NM_017617.5(NOTCH1):c.4610A>C (p.Lys1537Thr)
NM_017617.5(NOTCH1):c.4619T>A (p.Phe1540Tyr)
NM_017617.5(NOTCH1):c.4622G>C (p.Ser1541Thr) rs2133337721
NM_017617.5(NOTCH1):c.4627G>C (p.Gly1543Arg)
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>C (p.Glu1555Ala) rs781602537
NM_017617.5(NOTCH1):c.4675C>A (p.Leu1559Met) rs370713185
NM_017617.5(NOTCH1):c.4684G>A (p.Ala1562Thr)
NM_017617.5(NOTCH1):c.4685C>A (p.Ala1562Glu) rs752839680
NM_017617.5(NOTCH1):c.4690C>T (p.His1564Tyr)
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) rs777947269
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.4776C>A (p.Phe1592Leu) rs752861485
NM_017617.5(NOTCH1):c.4778T>C (p.Leu1593Pro) rs2133336857
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.4808A>G (p.Asn1603Ser)
NM_017617.5(NOTCH1):c.4815_4816insCCCCCC (p.Val1605_Phe1606insProPro) rs2540435405
NM_017617.5(NOTCH1):c.4829C>T (p.Ala1610Val) rs1554727837
NM_017617.5(NOTCH1):c.4835G>A (p.Gly1612Asp) rs1223921509
NM_017617.5(NOTCH1):c.4853C>A (p.Pro1618His) rs1335854366
NM_017617.5(NOTCH1):c.4855TAC[1] (p.Tyr1620del) rs2540435231
NM_017617.5(NOTCH1):c.485A>G (p.Tyr162Cys) rs2133377858
NM_017617.5(NOTCH1):c.4870G>C (p.Glu1624Gln) rs1843052920
NM_017617.5(NOTCH1):c.4880G>T (p.Arg1627Leu)
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) rs566680728
NM_017617.5(NOTCH1):c.4931T>C (p.Leu1644Pro) rs1034126352
NM_017617.5(NOTCH1):c.4953GCT[1] (p.Leu1653del) rs1564190275
NM_017617.5(NOTCH1):c.4961C>A (p.Pro1654His) rs1381525257
NM_017617.5(NOTCH1):c.4969A>T (p.Ser1657Cys) rs1843049969
NM_017617.5(NOTCH1):c.4988G>T (p.Arg1663Leu) rs749490844
NM_017617.5(NOTCH1):c.5006T>C (p.Met1669Thr) rs2133335675
NM_017617.5(NOTCH1):c.5018+5G>A rs2133335599
NM_017617.5(NOTCH1):c.5018+6_5018+9del rs2540434610
NM_017617.5(NOTCH1):c.5019-15T>A
NM_017617.5(NOTCH1):c.5022_5023delinsTC (p.Ile1675Leu)
NM_017617.5(NOTCH1):c.5101G>A (p.Ala1701Thr) rs1443819558
NM_017617.5(NOTCH1):c.5132G>A (p.Ser1711Asn) rs2133333235
NM_017617.5(NOTCH1):c.5137A>G (p.Asn1713Asp) rs905363739
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.5152A>T (p.Ile1718Phe)
NM_017617.5(NOTCH1):c.5161G>A (p.Val1721Met) rs2133333106
NM_017617.5(NOTCH1):c.5168G>A (p.Ser1723Asn) rs1264629893
NM_017617.5(NOTCH1):c.5181G>T (p.Glu1727Asp) rs1843014055
NM_017617.5(NOTCH1):c.5191C>A (p.Pro1731Thr) rs2133331775
NM_017617.5(NOTCH1):c.520A>C (p.Thr174Pro) rs771225163
NM_017617.5(NOTCH1):c.5211G>T (p.Met1737Ile) rs1589056736
NM_017617.5(NOTCH1):c.523T>G (p.Cys175Gly) rs2133377766
NM_017617.5(NOTCH1):c.5256C>G (p.Cys1752Trp) rs770333134
NM_017617.5(NOTCH1):c.5270C>T (p.Ser1757Phe) rs1843012177
NM_017617.5(NOTCH1):c.527_528delinsTT (p.Arg176Leu) rs1564203258
NM_017617.5(NOTCH1):c.5296C>A (p.Gln1766Lys) rs1843011278
NM_017617.5(NOTCH1):c.5297A>G (p.Gln1766Arg) rs2540431380
NM_017617.5(NOTCH1):c.5299C>G (p.Leu1767Val) rs2133331222
NM_017617.5(NOTCH1):c.5326T>G (p.Ser1776Ala) rs367610771
NM_017617.5(NOTCH1):c.5333C>G (p.Ala1778Gly) rs1422917398
NM_017617.5(NOTCH1):c.5340G>T (p.Lys1780Asn)
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.5385-2dup rs2540430739
NM_017617.5(NOTCH1):c.5385-3C>G
NM_017617.5(NOTCH1):c.5386C>T (p.Pro1796Ser) rs1216304049
NM_017617.5(NOTCH1):c.5387C>T (p.Pro1796Leu)
NM_017617.5(NOTCH1):c.538A>G (p.Asn180Asp) rs2540468367
NM_017617.5(NOTCH1):c.538_540del (p.Asn180del)
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.5447A>G (p.Glu1816Gly) rs2133329831
NM_017617.5(NOTCH1):c.5462A>G (p.Lys1821Arg) rs1843004869
NM_017617.5(NOTCH1):c.5471G>T (p.Arg1824Leu) rs765309913
NM_017617.5(NOTCH1):c.547G>C (p.Gly183Arg) rs1843399830
NM_017617.5(NOTCH1):c.5489T>C (p.Val1830Ala)
NM_017617.5(NOTCH1):c.5500C>G (p.Leu1834Val) rs73668312
NM_017617.5(NOTCH1):c.5508C>A (p.Asp1836Glu) rs764146134
NM_017617.5(NOTCH1):c.5519A>G (p.His1840Arg) rs927761523
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.5551G>A (p.Ala1851Thr) rs1340087522
NM_017617.5(NOTCH1):c.5567C>A (p.Ser1856Tyr) rs2133328837
NM_017617.5(NOTCH1):c.556C>T (p.Pro186Ser) rs1228535872
NM_017617.5(NOTCH1):c.557C>T (p.Pro186Leu) rs2133377659
NM_017617.5(NOTCH1):c.5591A>G (p.Gln1864Arg) rs2540429578
NM_017617.5(NOTCH1):c.5592G>T (p.Gln1864His)
NM_017617.5(NOTCH1):c.5594G>A (p.Gly1865Asp) rs2133328665
NM_017617.5(NOTCH1):c.5599G>T (p.Val1867Phe) rs2133328651
NM_017617.5(NOTCH1):c.5609A>C (p.Asp1870Ala)
NM_017617.5(NOTCH1):c.5612G>T (p.Cys1871Phe) rs2133328579
NM_017617.5(NOTCH1):c.5630G>A (p.Arg1877His) rs772843787
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.568C>T (p.Arg190Cys)
NM_017617.5(NOTCH1):c.5697C>A (p.Asn1899Lys) rs747229390
NM_017617.5(NOTCH1):c.5712G>T (p.Glu1904Asp) rs1842982880
NM_017617.5(NOTCH1):c.5731T>C (p.Ser1911Pro) rs2133326413
NM_017617.5(NOTCH1):c.5739C>T (p.Phe1913=) rs2133326366
NM_017617.5(NOTCH1):c.5763C>G (p.His1921Gln) rs1451972572
NM_017617.5(NOTCH1):c.5766C>A (p.Asn1922Lys) rs2540427827
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) rs997320046
NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His) rs897872809
NM_017617.5(NOTCH1):c.5836C>G (p.Arg1946Gly) rs1440167765
NM_017617.5(NOTCH1):c.5861C>A (p.Ala1954Asp)
NM_017617.5(NOTCH1):c.5878A>G (p.Met1960Val)
NM_017617.5(NOTCH1):c.5888C>A (p.Thr1963Asn) rs2540427428
NM_017617.5(NOTCH1):c.5899G>A (p.Ala1967Thr) rs1842979645
NM_017617.5(NOTCH1):c.5905G>A (p.Val1969Met) rs1842979490
NM_017617.5(NOTCH1):c.5920C>A (p.Gln1974Lys) rs2133325460
NM_017617.5(NOTCH1):c.5921A>G (p.Gln1974Arg)
NM_017617.5(NOTCH1):c.600C>T (p.Gly200=)
NM_017617.5(NOTCH1):c.607C>T (p.Arg203Cys) rs867209548
NM_017617.5(NOTCH1):c.619C>T (p.Arg207Cys) rs748300035
NM_017617.5(NOTCH1):c.62-3T>C rs2133406300
NM_017617.5(NOTCH1):c.6219C>G (p.Ser2073Arg) rs1162682313
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.6262G>A (p.Asp2088Asn)
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.6277A>G (p.Met2093Val)
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.6320A>G (p.His2107Arg)
NM_017617.5(NOTCH1):c.6321C>G (p.His2107Gln)
NM_017617.5(NOTCH1):c.6342C>G (p.Asp2114Glu) rs746682300
NM_017617.5(NOTCH1):c.6355G>A (p.Val2119Met)
NM_017617.5(NOTCH1):c.6365C>G (p.Pro2122Arg) rs767587816
NM_017617.5(NOTCH1):c.6373C>T (p.His2125Tyr) rs2133318919
NM_017617.5(NOTCH1):c.637C>T (p.Pro213Ser) rs1468714810
NM_017617.5(NOTCH1):c.6386T>G (p.Leu2129Arg)
NM_017617.5(NOTCH1):c.6392del (p.Gly2131fs) rs1455334351
NM_017617.5(NOTCH1):c.6397C>A (p.Pro2133Thr) rs61733294
NM_017617.5(NOTCH1):c.6413dup (p.Leu2139fs) rs1842932983
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.6470A>C (p.Lys2157Thr) rs1564568574
NM_017617.5(NOTCH1):c.6489C>G (p.Ser2163Arg) rs2133318304
NM_017617.5(NOTCH1):c.649C>G (p.Arg217Gly)
NM_017617.5(NOTCH1):c.6500C>A (p.Ala2167Asp) rs2133318262
NM_017617.5(NOTCH1):c.6502T>C (p.Cys2168Arg)
NM_017617.5(NOTCH1):c.6503G>C (p.Cys2168Ser) rs1055326153
NM_017617.5(NOTCH1):c.6506G>A (p.Gly2169Glu)
NM_017617.5(NOTCH1):c.650G>T (p.Arg217Leu)
NM_017617.5(NOTCH1):c.6512A>G (p.Lys2171Arg) rs2540422336
NM_017617.5(NOTCH1):c.6517G>A (p.Ala2173Thr) rs1060502234
NM_017617.5(NOTCH1):c.6543G>T (p.Lys2181Asn)
NM_017617.5(NOTCH1):c.6551A>G (p.Gln2184Arg) rs2133318027
NM_017617.5(NOTCH1):c.655T>C (p.Tyr219His)
NM_017617.5(NOTCH1):c.6593C>G (p.Ser2198Trp) rs761562076
NM_017617.5(NOTCH1):c.6595C>A (p.Pro2199Thr)
NM_017617.5(NOTCH1):c.6598G>A (p.Val2200Met) rs1462371500
NM_017617.5(NOTCH1):c.65C>G (p.Pro22Arg) rs769046407
NM_017617.5(NOTCH1):c.6620A>G (p.His2207Arg) rs1842929432
NM_017617.5(NOTCH1):c.6647C>G (p.Pro2216Arg) rs771450276
NM_017617.5(NOTCH1):c.6668T>C (p.Phe2223Ser) rs1842928462
NM_017617.5(NOTCH1):c.6691C>T (p.Leu2231Phe)
NM_017617.5(NOTCH1):c.6706G>A (p.Gly2236Arg) rs1457252057
NM_017617.5(NOTCH1):c.670C>G (p.Pro224Ala) rs1843396147
NM_017617.5(NOTCH1):c.6712C>T (p.Pro2238Ser) rs2133317475
NM_017617.5(NOTCH1):c.6724C>G (p.Leu2242Val) rs1589053091
NM_017617.5(NOTCH1):c.6730A>T (p.Ile2244Phe)
NM_017617.5(NOTCH1):c.6738C>G (p.His2246Gln) rs1842927243
NM_017617.5(NOTCH1):c.6740T>C (p.Leu2247Pro) rs2133317359
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.6766G>C (p.Ala2256Pro)
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) rs777902922
NM_017617.5(NOTCH1):c.6810_6812del (p.Pro2271del) rs2540421647
NM_017617.5(NOTCH1):c.6844_6861del (p.Thr2282_Gly2287del)
NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile) rs1341934554
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.6875G>T (p.Gly2292Val)
NM_017617.5(NOTCH1):c.6880C>G (p.Leu2294Val) rs776850297
NM_017617.5(NOTCH1):c.6883A>C (p.Asn2295His)
NM_017617.5(NOTCH1):c.6905C>T (p.Thr2302Ile) rs2133316844
NM_017617.5(NOTCH1):c.6923G>T (p.Cys2308Phe) rs2540421442
NM_017617.5(NOTCH1):c.6924C>G (p.Cys2308Trp) rs756653663
NM_017617.5(NOTCH1):c.6944A>C (p.Gln2315Pro) rs1842922417
NM_017617.5(NOTCH1):c.6947G>A (p.Ser2316Asn) rs2540421394
NM_017617.5(NOTCH1):c.6950G>C (p.Gly2317Ala) rs1842922253
NM_017617.5(NOTCH1):c.6980G>C (p.Arg2327Pro) rs202065858
NM_017617.5(NOTCH1):c.6986G>C (p.Ser2329Thr) rs2540421317
NM_017617.5(NOTCH1):c.7001C>G (p.Pro2334Arg) rs370135470
NM_017617.5(NOTCH1):c.7010C>T (p.Thr2337Ile) rs2540421272
NM_017617.5(NOTCH1):c.7013A>G (p.Gln2338Arg)
NM_017617.5(NOTCH1):c.7029G>C (p.Gln2343His) rs2540421252
NM_017617.5(NOTCH1):c.7036A>G (p.Met2346Val) rs1471422073
NM_017617.5(NOTCH1):c.7039_7047del (p.Val2347_Pro2349del) rs2540421207
NM_017617.5(NOTCH1):c.7042G>A (p.Gly2348Ser) rs2540421222
NM_017617.5(NOTCH1):c.705_707dup (p.Thr236_Gly237insThr)
NM_017617.5(NOTCH1):c.7069A>T (p.Ser2357Cys) rs2540421166
NM_017617.5(NOTCH1):c.7072G>A (p.Ala2358Thr) rs780869345
NM_017617.5(NOTCH1):c.7079C>G (p.Ser2360Cys)
NM_017617.5(NOTCH1):c.7110C>A (p.Ser2370Arg) rs2133316289
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.7175T>A (p.Met2392Lys) rs1036612594
NM_017617.5(NOTCH1):c.7175T>C (p.Met2392Thr) rs1036612594
NM_017617.5(NOTCH1):c.7177C>G (p.Gln2393Glu) rs779613930
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.7220G>A (p.Ser2407Asn)
NM_017617.5(NOTCH1):c.7222C>G (p.Leu2408Val) rs1381801448
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.724G>A (p.Glu242Lys)
NM_017617.5(NOTCH1):c.7261G>T (p.Val2421Leu) rs373874935
NM_017617.5(NOTCH1):c.728G>A (p.Cys243Tyr)
NM_017617.5(NOTCH1):c.7306G>A (p.Gly2436Arg)
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp) rs886039031
NM_017617.5(NOTCH1):c.7313C>G (p.Pro2438Arg)
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.7406C>T (p.Pro2469Leu)
NM_017617.5(NOTCH1):c.7417del (p.Val2473fs) rs2133314943
NM_017617.5(NOTCH1):c.7426G>A (p.Val2476Met) rs763785541
NM_017617.5(NOTCH1):c.748A>T (p.Thr250Ser) rs551150550
NM_017617.5(NOTCH1):c.7507C>T (p.Gln2503Ter) rs1842911122
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) rs2133314336
NM_017617.5(NOTCH1):c.7549C>T (p.Pro2517Ser) rs2133314214
NM_017617.5(NOTCH1):c.755A>G (p.Gln252Arg)
NM_017617.5(NOTCH1):c.7600G>A (p.Glu2534Lys)
NM_017617.5(NOTCH1):c.760T>C (p.Cys254Arg) rs2540463772
NM_017617.5(NOTCH1):c.7622C>T (p.Thr2541Ile) rs2133313833
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) rs1318946659
NM_017617.5(NOTCH1):c.781T>C (p.Cys261Arg) rs2133372814
NM_017617.5(NOTCH1):c.787G>C (p.Gly263Arg)
NM_017617.5(NOTCH1):c.788G>T (p.Gly263Val) rs768903474
NM_017617.5(NOTCH1):c.804C>A (p.Asn268Lys) rs774222164
NM_017617.5(NOTCH1):c.824G>C (p.Gly275Ala) rs2133372721
NM_017617.5(NOTCH1):c.829A>G (p.Asn277Asp) rs2540463645
NM_017617.5(NOTCH1):c.830A>G (p.Asn277Ser) rs2540463642
NM_017617.5(NOTCH1):c.856G>C (p.Glu286Gln)
NM_017617.5(NOTCH1):c.857A>C (p.Glu286Ala)
NM_017617.5(NOTCH1):c.865+11G>A rs919195332
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) rs2133371706
NM_017617.5(NOTCH1):c.878C>T (p.Thr293Ile)
NM_017617.5(NOTCH1):c.892G>C (p.Glu298Gln) rs1060502232
NM_017617.5(NOTCH1):c.900G>C (p.Gln300His) rs1843320159
NM_017617.5(NOTCH1):c.902T>C (p.Leu301Pro) rs1354385699
NM_017617.5(NOTCH1):c.917G>A (p.Cys306Tyr)
NM_017617.5(NOTCH1):c.924C>G (p.Asn308Lys) rs765208754
NM_017617.5(NOTCH1):c.961T>C (p.Cys321Arg) rs1843318767
NM_017617.5(NOTCH1):c.98A>G (p.Asn33Ser) rs2133406228

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