ClinVar Miner

List of variants in gene NOTCH3 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 725
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=) rs1044006 0.90693
NM_000435.3(NOTCH3):c.5362+3T>C rs1548555 0.90675
NM_000435.3(NOTCH3):c.5816-8T>C rs4809030 0.90632
NM_000435.3(NOTCH3):c.5363-17C>T rs2074619 0.90508
NM_000435.3(NOTCH3):c.1192+15A>G rs10423702 0.87325
NM_000435.3(NOTCH3):c.606A>G (p.Ala202=) rs1043994 0.87319
NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=) rs1043997 0.76937
NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val) rs1044009 0.69087
NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=) rs1043996 0.56438
NM_000435.3(NOTCH3):c.303C>T (p.Thr101=) rs3815188 0.18114
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=) rs16980398 0.12317
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) rs10408676 0.08167
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) rs1044008 0.03162
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350 0.02709
NM_000435.3(NOTCH3):c.6753C>T (p.Ser2251=) rs61731975 0.02703
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020 0.02545
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217 0.01566
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745 0.01547
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=) rs114887570 0.01539
NM_000435.3(NOTCH3):c.6813T>C (p.Pro2271=) rs61731974 0.01445
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799 0.01273
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=) rs35793356 0.01231
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093 0.00784
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045 0.00755
NM_000435.3(NOTCH3):c.5400G>T (p.Gly1800=) rs34480308 0.00591
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu) rs55882518 0.00433
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403 0.00417
NM_000435.3(NOTCH3):c.3719-11C>T rs78907190 0.00367
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=) rs140040122 0.00306
NM_000435.3(NOTCH3):c.2411-4C>G rs190177286 0.00295
NM_000435.3(NOTCH3):c.5370C>T (p.Phe1790=) rs35887416 0.00287
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile) rs34338511 0.00222
NM_000435.3(NOTCH3):c.2724C>T (p.Phe908=) rs61731967 0.00222
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511 0.00217
NM_000435.3(NOTCH3):c.2175T>C (p.Ser725=) rs141993521 0.00214
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His) rs75291244 0.00213
NM_000435.3(NOTCH3):c.3718+13G>T rs201077354 0.00188
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_000435.3(NOTCH3):c.4374C>T (p.Cys1458=) rs150288106 0.00162
NM_000435.3(NOTCH3):c.3314G>C (p.Gly1105Ala) rs143764521 0.00158
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=) rs376598183 0.00145
NM_000435.3(NOTCH3):c.4071C>T (p.Pro1357=) rs542856470 0.00118
NM_000435.3(NOTCH3):c.2682C>T (p.Asn894=) rs138245070 0.00107
NM_000435.3(NOTCH3):c.4737-19C>T rs180755159 0.00105
NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=) rs114457076 0.00091
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012 0.00081
NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=) rs141346023 0.00081
NM_000435.3(NOTCH3):c.4025C>A (p.Ala1342Asp) rs888391580 0.00070
NM_000435.3(NOTCH3):c.5510G>A (p.Arg1837His) rs138265894 0.00066
NM_000435.3(NOTCH3):c.338G>A (p.Arg113Gln) rs143385744 0.00064
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_000435.3(NOTCH3):c.6532C>T (p.Pro2178Ser) rs751951476 0.00059
NM_000435.3(NOTCH3):c.945C>T (p.Ile315=) rs116239440 0.00048
NM_000435.3(NOTCH3):c.5992C>T (p.Arg1998Cys) rs201105335 0.00046
NM_000435.3(NOTCH3):c.2411-11C>A rs201130717 0.00043
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val) rs150037063 0.00043
NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His) rs35031555 0.00041
NM_000435.3(NOTCH3):c.4858C>T (p.Leu1620=) rs144401090 0.00041
NM_000435.3(NOTCH3):c.1194C>T (p.Gly398=) rs140368657 0.00036
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp) rs115872852 0.00036
NM_000435.3(NOTCH3):c.536G>T (p.Gly179Val) rs142778401 0.00036
NM_000435.3(NOTCH3):c.2580C>T (p.Asn860=) rs201436750 0.00035
NM_000435.3(NOTCH3):c.5200-4C>A rs375036447 0.00035
NM_000435.3(NOTCH3):c.6626C>T (p.Pro2209Leu) rs541716070 0.00035
NM_000435.3(NOTCH3):c.1493-8C>T rs201202842 0.00032
NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp) rs200504060 0.00028
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val) rs368146879 0.00026
NM_000435.3(NOTCH3):c.964G>A (p.Val322Met) rs115029695 0.00025
NM_000435.3(NOTCH3):c.1619C>T (p.Thr540Met) rs200317373 0.00024
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His) rs144935367 0.00024
NM_000435.3(NOTCH3):c.5129G>A (p.Gly1710Asp) rs143411026 0.00024
NM_000435.3(NOTCH3):c.850G>A (p.Ala284Thr) rs149307620 0.00024
NM_000435.3(NOTCH3):c.884T>G (p.Leu295Arg) rs143117018 0.00024
NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg) rs141956294 0.00023
NM_000435.3(NOTCH3):c.340+14A>G rs202136001 0.00022
NM_000435.3(NOTCH3):c.3428G>A (p.Arg1143His) rs144559574 0.00021
NM_000435.3(NOTCH3):c.4737-6C>T rs377478976 0.00021
NM_000435.3(NOTCH3):c.831G>A (p.Glu277=) rs145049433 0.00021
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys) rs375873637 0.00020
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650 0.00019
NM_000435.3(NOTCH3):c.5114+10C>G rs369547319 0.00019
NM_000435.3(NOTCH3):c.5466C>T (p.Ser1822=) rs148053028 0.00019
NM_000435.3(NOTCH3):c.6684C>T (p.Ser2228=) rs755461072 0.00019
NM_000435.3(NOTCH3):c.5127G>A (p.Lys1709=) rs578020650 0.00018
NM_000435.3(NOTCH3):c.2804A>G (p.Asn935Ser) rs201147300 0.00017
NM_000435.3(NOTCH3):c.3328-8C>A rs200360207 0.00017
NM_000435.3(NOTCH3):c.3692G>A (p.Arg1231His) rs778176344 0.00017
NM_000435.3(NOTCH3):c.3299G>A (p.Arg1100His) rs189545202 0.00016
NM_000435.3(NOTCH3):c.5460C>A (p.Ile1820=) rs114661066 0.00016
NM_000435.3(NOTCH3):c.5895G>A (p.Lys1965=) rs140567100 0.00016
NM_000435.3(NOTCH3):c.996C>T (p.Arg332=) rs183500505 0.00016
NM_000435.3(NOTCH3):c.181C>T (p.Arg61Trp) rs200595885 0.00015
NM_000435.3(NOTCH3):c.1760G>A (p.Arg587His) rs142787620 0.00014
NM_000435.3(NOTCH3):c.4935A>T (p.Pro1645=) rs111706798 0.00014
NM_000435.3(NOTCH3):c.499C>T (p.Pro167Ser) rs202157633 0.00014
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu) rs371738874 0.00014
NM_000435.3(NOTCH3):c.1677C>T (p.Cys559=) rs113216024 0.00013
NM_000435.3(NOTCH3):c.1690G>A (p.Ala564Thr) rs374767079 0.00013
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His) rs372241697 0.00013
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_000435.3(NOTCH3):c.6300G>A (p.Ser2100=) rs183839795 0.00013
NM_000435.3(NOTCH3):c.135C>T (p.Asp45=) rs370177269 0.00012
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser) rs764148985 0.00011
NM_000435.3(NOTCH3):c.2941C>T (p.His981Tyr) rs143695196 0.00011
NM_000435.3(NOTCH3):c.3645C>T (p.His1215=) rs773203358 0.00011
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166 0.00011
NM_000435.3(NOTCH3):c.4348G>A (p.Ala1450Thr) rs201082692 0.00011
NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile) rs142007575 0.00011
NM_000435.3(NOTCH3):c.6238C>T (p.Arg2080Trp) rs113178142 0.00011
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935 0.00011
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000435.3(NOTCH3):c.224G>A (p.Arg75Gln) rs145069047 0.00010
NM_000435.3(NOTCH3):c.4560G>T (p.Pro1520=) rs370010007 0.00010
NM_000435.3(NOTCH3):c.5284G>A (p.Val1762Met) rs756495084 0.00010
NM_000435.3(NOTCH3):c.803-17G>C rs773505929 0.00010
NM_000435.3(NOTCH3):c.1854A>G (p.Glu618=) rs150438748 0.00009
NM_000435.3(NOTCH3):c.283A>C (p.Ser95Arg) rs777645491 0.00009
NM_000435.3(NOTCH3):c.3421G>A (p.Val1141Met) rs373181668 0.00009
NM_000435.3(NOTCH3):c.4725C>A (p.Pro1575=) rs374042078 0.00009
NM_000435.3(NOTCH3):c.5323G>A (p.Ala1775Thr) rs139983430 0.00009
NM_000435.3(NOTCH3):c.5900T>C (p.Met1967Thr) rs377589088 0.00009
NM_000435.3(NOTCH3):c.6239G>A (p.Arg2080Gln) rs759896413 0.00009
NM_000435.3(NOTCH3):c.624C>T (p.Asn208=) rs368179321 0.00009
NM_000435.3(NOTCH3):c.6569C>T (p.Ala2190Val) rs528151296 0.00009
NM_000435.3(NOTCH3):c.1500C>T (p.Ser500=) rs146055867 0.00008
NM_000435.3(NOTCH3):c.2995-6C>T rs552141058 0.00008
NM_000435.3(NOTCH3):c.3785G>T (p.Arg1262Leu) rs143684274 0.00008
NM_000435.3(NOTCH3):c.5376G>A (p.Pro1792=) rs374875084 0.00008
NM_000435.3(NOTCH3):c.1505C>T (p.Ser502Phe) rs778571943 0.00007
NM_000435.3(NOTCH3):c.3659G>A (p.Arg1220Gln) rs370233852 0.00007
NM_000435.3(NOTCH3):c.4404C>T (p.Asn1468=) rs145425679 0.00007
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp) rs557113034 0.00007
NM_000435.3(NOTCH3):c.5678G>A (p.Arg1893Gln) rs372834264 0.00007
NM_000435.3(NOTCH3):c.6024G>A (p.Pro2008=) rs766274305 0.00007
NM_000435.3(NOTCH3):c.709G>A (p.Val237Met) rs2285981 0.00007
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189 0.00006
NM_000435.3(NOTCH3):c.1416G>T (p.Glu472Asp) rs1416152273 0.00006
NM_000435.3(NOTCH3):c.1466A>G (p.Asn489Ser) rs376728138 0.00006
NM_000435.3(NOTCH3):c.1578C>G (p.Pro526=) rs775208731 0.00006
NM_000435.3(NOTCH3):c.1840+8C>T rs372100017 0.00006
NM_000435.3(NOTCH3):c.1920C>T (p.Arg640=) rs140818133 0.00006
NM_000435.3(NOTCH3):c.2000G>A (p.Gly667Asp) rs370386680 0.00006
NM_000435.3(NOTCH3):c.2226G>A (p.Pro742=) rs79471197 0.00006
NM_000435.3(NOTCH3):c.2358C>T (p.Cys786=) rs754220821 0.00006
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu) rs778715118 0.00006
NM_000435.3(NOTCH3):c.3719-7C>T rs374419613 0.00006
NM_000435.3(NOTCH3):c.472G>A (p.Asp158Asn) rs544773641 0.00006
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp) rs367707092 0.00006
NM_000435.3(NOTCH3):c.5319C>T (p.Gly1773=) rs115262182 0.00006
NM_000435.3(NOTCH3):c.5937C>T (p.Ala1979=) rs570392715 0.00006
NM_000435.3(NOTCH3):c.6010C>T (p.Leu2004=) rs370927186 0.00006
NM_000435.3(NOTCH3):c.6164C>T (p.Ala2055Val) rs769066713 0.00006
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp) rs753170185 0.00006
NM_000435.3(NOTCH3):c.6747C>T (p.Pro2249=) rs769454994 0.00006
NM_000435.3(NOTCH3):c.771C>A (p.Thr257=) rs373744631 0.00006
NM_000435.3(NOTCH3):c.822C>T (p.Asp274=) rs755998957 0.00006
NM_000435.3(NOTCH3):c.1524G>A (p.Val508=) rs749980683 0.00005
NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met) rs564452430 0.00005
NM_000435.3(NOTCH3):c.2319C>T (p.Ser773=) rs182623173 0.00005
NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser) rs752995216 0.00005
NM_000435.3(NOTCH3):c.3327+10C>T rs747489033 0.00005
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=) rs200881673 0.00005
NM_000435.3(NOTCH3):c.355C>T (p.Leu119=) rs747886116 0.00005
NM_000435.3(NOTCH3):c.4333G>T (p.Ala1445Ser) rs377578886 0.00005
NM_000435.3(NOTCH3):c.4413C>T (p.Tyr1471=) rs920286007 0.00005
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165 0.00005
NM_000435.3(NOTCH3):c.4806C>T (p.Pro1602=) rs578082632 0.00005
NM_000435.3(NOTCH3):c.591C>T (p.Pro197=) rs367943979 0.00005
NM_000435.3(NOTCH3):c.1036+10C>T rs776962888 0.00004
NM_000435.3(NOTCH3):c.1277C>T (p.Pro426Leu) rs756516988 0.00004
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met) rs200160665 0.00004
NM_000435.3(NOTCH3):c.1724C>T (p.Thr575Met) rs371176740 0.00004
NM_000435.3(NOTCH3):c.1729A>G (p.Thr577Ala) rs368181126 0.00004
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 0.00004
NM_000435.3(NOTCH3):c.1775G>A (p.Arg592His) rs763115768 0.00004
NM_000435.3(NOTCH3):c.1873G>A (p.Ala625Thr) rs747633377 0.00004
NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys) rs760768552 0.00004
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_000435.3(NOTCH3):c.223C>T (p.Arg75Trp) rs762164861 0.00004
NM_000435.3(NOTCH3):c.2436C>T (p.Asp812=) rs369733076 0.00004
NM_000435.3(NOTCH3):c.3120C>T (p.Cys1040=) rs372688320 0.00004
NM_000435.3(NOTCH3):c.3210C>T (p.Cys1070=) rs202041210 0.00004
NM_000435.3(NOTCH3):c.3475A>G (p.Ile1159Val) rs1044143019 0.00004
NM_000435.3(NOTCH3):c.3566T>C (p.Phe1189Ser) rs764617561 0.00004
NM_000435.3(NOTCH3):c.3806G>T (p.Gly1269Val) rs781401262 0.00004
NM_000435.3(NOTCH3):c.4793A>T (p.Asp1598Val) rs201167365 0.00004
NM_000435.3(NOTCH3):c.4875A>C (p.Pro1625=) rs538466132 0.00004
NM_000435.3(NOTCH3):c.488G>A (p.Arg163Gln) rs761209241 0.00004
NM_000435.3(NOTCH3):c.5551C>T (p.Arg1851Cys) rs376590511 0.00004
NM_000435.3(NOTCH3):c.5628G>T (p.Leu1876=) rs781218286 0.00004
NM_000435.3(NOTCH3):c.6324G>A (p.Pro2108=) rs776858941 0.00004
NM_000435.3(NOTCH3):c.632C>T (p.Thr211Ile) rs770415497 0.00004
NM_000435.3(NOTCH3):c.6437C>T (p.Ala2146Val) rs770739669 0.00004
NM_000435.3(NOTCH3):c.6669G>T (p.Ala2223=) rs191173559 0.00004
NM_000435.3(NOTCH3):c.715G>A (p.Asp239Asn) rs761407832 0.00004
NM_000435.3(NOTCH3):c.963C>T (p.Ala321=) rs538938551 0.00004
NM_000435.3(NOTCH3):c.143C>T (p.Pro48Leu) rs1362111590 0.00003
NM_000435.3(NOTCH3):c.1460G>A (p.Arg487Gln) rs765979836 0.00003
NM_000435.3(NOTCH3):c.1692C>T (p.Ala564=) rs372158498 0.00003
NM_000435.3(NOTCH3):c.1840+9G>C rs752066482 0.00003
NM_000435.3(NOTCH3):c.1966G>A (p.Val656Met) rs560752299 0.00003
NM_000435.3(NOTCH3):c.2084C>T (p.Pro695Leu) rs202228716 0.00003
NM_000435.3(NOTCH3):c.2142C>A (p.Gly714=) rs369579579 0.00003
NM_000435.3(NOTCH3):c.2589G>A (p.Ser863=) rs530503488 0.00003
NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr) rs376950447 0.00003
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys) rs60373464 0.00003
NM_000435.3(NOTCH3):c.4086T>C (p.Ala1362=) rs1297537098 0.00003
NM_000435.3(NOTCH3):c.4782G>C (p.Ser1594=) rs748774860 0.00003
NM_000435.3(NOTCH3):c.4900C>T (p.Leu1634=) rs745895264 0.00003
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=) rs149222385 0.00003
NM_000435.3(NOTCH3):c.5202A>G (p.Val1734=) rs750943761 0.00003
NM_000435.3(NOTCH3):c.5554G>A (p.Ala1852Thr) rs971318341 0.00003
NM_000435.3(NOTCH3):c.5646C>T (p.Ala1882=) rs758307531 0.00003
NM_000435.3(NOTCH3):c.5840C>T (p.Ala1947Val) rs779138148 0.00003
NM_000435.3(NOTCH3):c.5938G>A (p.Ala1980Thr) rs367885841 0.00003
NM_000435.3(NOTCH3):c.6111C>T (p.His2037=) rs764620593 0.00003
NM_000435.3(NOTCH3):c.6209C>T (p.Ala2070Val) rs763603215 0.00003
NM_000435.3(NOTCH3):c.6603C>T (p.Pro2201=) rs200415679 0.00003
NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu) rs770737365 0.00002
NM_000435.3(NOTCH3):c.2450C>T (p.Pro817Leu) rs142405648 0.00002
NM_000435.3(NOTCH3):c.2567-5C>T rs1367294361 0.00002
NM_000435.3(NOTCH3):c.267C>T (p.Gly89=) rs780210842 0.00002
NM_000435.3(NOTCH3):c.3305A>T (p.Tyr1102Phe) rs148838056 0.00002
NM_000435.3(NOTCH3):c.3687T>C (p.Gly1229=) rs1349205662 0.00002
NM_000435.3(NOTCH3):c.398G>A (p.Arg133His) rs151016108 0.00002
NM_000435.3(NOTCH3):c.5115-19T>G rs774492114 0.00002
NM_000435.3(NOTCH3):c.5180C>T (p.Pro1727Leu) rs989373826 0.00002
NM_000435.3(NOTCH3):c.5199+20C>T rs769829213 0.00002
NM_000435.3(NOTCH3):c.5618G>A (p.Arg1873His) rs780169747 0.00002
NM_000435.3(NOTCH3):c.5879A>G (p.Lys1960Arg) rs370239685 0.00002
NM_000435.3(NOTCH3):c.6266C>T (p.Pro2089Leu) rs749288986 0.00002
NM_000435.3(NOTCH3):c.678T>C (p.Pro226=) rs752866800 0.00002
NM_000435.3(NOTCH3):c.762C>T (p.Gly254=) rs747601491 0.00002
NM_000435.3(NOTCH3):c.768C>T (p.Asn256=) rs778247982 0.00002
NM_000435.3(NOTCH3):c.815C>T (p.Thr272Met) rs749561286 0.00002
NM_000435.3(NOTCH3):c.1037-10C>A rs369070061 0.00001
NM_000435.3(NOTCH3):c.107C>T (p.Pro36Leu) rs1311684711 0.00001
NM_000435.3(NOTCH3):c.119C>T (p.Ala40Val) rs766139231 0.00001
NM_000435.3(NOTCH3):c.1206C>T (p.Cys402=) rs775946966 0.00001
NM_000435.3(NOTCH3):c.1257C>T (p.Cys419=) rs1357572876 0.00001
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His) rs142031490 0.00001
NM_000435.3(NOTCH3):c.1413C>T (p.Asp471=) rs758559364 0.00001
NM_000435.3(NOTCH3):c.1463T>G (p.Val488Gly) rs760245739 0.00001
NM_000435.3(NOTCH3):c.1494C>T (p.Gly498=) rs142762020 0.00001
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg) rs148166997 0.00001
NM_000435.3(NOTCH3):c.1792C>T (p.Leu598=) rs922098906 0.00001
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303 0.00001
NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys) rs1250956327 0.00001
NM_000435.3(NOTCH3):c.2053C>A (p.Pro685Thr) rs774900511 0.00001
NM_000435.3(NOTCH3):c.2145-9C>T rs1228363918 0.00001
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr) rs754815179 0.00001
NM_000435.3(NOTCH3):c.2321C>G (p.Pro774Arg) rs757980886 0.00001
NM_000435.3(NOTCH3):c.2331G>A (p.Pro777=) rs1445735832 0.00001
NM_000435.3(NOTCH3):c.2674C>T (p.Leu892=) rs773959180 0.00001
NM_000435.3(NOTCH3):c.2887G>A (p.Ala963Thr) rs199978689 0.00001
NM_000435.3(NOTCH3):c.2890G>C (p.Asp964His) rs201336164 0.00001
NM_000435.3(NOTCH3):c.3057G>A (p.Gly1019=) rs780520770 0.00001
NM_000435.3(NOTCH3):c.305C>T (p.Ala102Val) rs1487780762 0.00001
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466 0.00001
NM_000435.3(NOTCH3):c.3083G>C (p.Trp1028Ser) rs146829488 0.00001
NM_000435.3(NOTCH3):c.3110G>A (p.Ser1037Asn) rs982964988 0.00001
NM_000435.3(NOTCH3):c.3171G>A (p.Ala1057=) rs569728292 0.00001
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys) rs1438626607 0.00001
NM_000435.3(NOTCH3):c.3289G>A (p.Gly1097Arg) rs765140794 0.00001
NM_000435.3(NOTCH3):c.329G>A (p.Arg110His) rs769955930 0.00001
NM_000435.3(NOTCH3):c.3327+11G>A rs777978969 0.00001
NM_000435.3(NOTCH3):c.3344A>G (p.Asn1115Ser) rs1399228829 0.00001
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) rs1266914122 0.00001
NM_000435.3(NOTCH3):c.3364G>A (p.Asp1122Asn) rs140147764 0.00001
NM_000435.3(NOTCH3):c.3429C>T (p.Arg1143=) rs1456987143 0.00001
NM_000435.3(NOTCH3):c.3552C>G (p.Asp1184Glu) rs763112778 0.00001
NM_000435.3(NOTCH3):c.3718+6C>T rs545768883 0.00001
NM_000435.3(NOTCH3):c.3762A>G (p.Pro1254=) rs1164302784 0.00001
NM_000435.3(NOTCH3):c.3837+11G>A rs752485887 0.00001
NM_000435.3(NOTCH3):c.4347C>T (p.Pro1449=) rs747087788 0.00001
NM_000435.3(NOTCH3):c.4381G>A (p.Gly1461Ser) rs1309726793 0.00001
NM_000435.3(NOTCH3):c.4647G>A (p.Ala1549=) rs561981488 0.00001
NM_000435.3(NOTCH3):c.467G>A (p.Arg156Gln) rs142492710 0.00001
NM_000435.3(NOTCH3):c.5007C>A (p.Arg1669=) rs778849094 0.00001
NM_000435.3(NOTCH3):c.5088C>T (p.Pro1696=) rs760075953 0.00001
NM_000435.3(NOTCH3):c.5114+9C>G rs199791632 0.00001
NM_000435.3(NOTCH3):c.5164A>G (p.Met1722Val) rs1307548749 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000435.3(NOTCH3):c.5501G>A (p.Arg1834Gln) rs202027632 0.00001
NM_000435.3(NOTCH3):c.553T>C (p.Cys185Arg) rs1568361844 0.00001
NM_000435.3(NOTCH3):c.5742C>G (p.Ala1914=) rs1315733874 0.00001
NM_000435.3(NOTCH3):c.5847G>C (p.Val1949=) rs755298990 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000435.3(NOTCH3):c.6210G>A (p.Ala2070=) rs899099426 0.00001
NM_000435.3(NOTCH3):c.625G>A (p.Gly209Arg) rs776600631 0.00001
NM_000435.3(NOTCH3):c.6333C>T (p.Phe2111=) rs764987454 0.00001
NM_000435.3(NOTCH3):c.6429A>G (p.Pro2143=) rs890365920 0.00001
NM_000435.3(NOTCH3):c.6434G>A (p.Arg2145Gln) rs776779400 0.00001
NM_000435.3(NOTCH3):c.6440G>A (p.Gly2147Asp) rs897705605 0.00001
NM_000435.3(NOTCH3):c.6510C>T (p.Leu2170=) rs754442174 0.00001
NM_000435.3(NOTCH3):c.6522G>C (p.Arg2174=) rs1280248640 0.00001
NM_000435.3(NOTCH3):c.6597G>A (p.Gly2199=) rs778851827 0.00001
NM_000435.3(NOTCH3):c.6627G>A (p.Pro2209=) rs760880486 0.00001
NM_000435.3(NOTCH3):c.6654C>T (p.Gly2218=) rs528209250 0.00001
NM_000435.3(NOTCH3):c.6701G>A (p.Arg2234His) rs750631177 0.00001
NM_000435.3(NOTCH3):c.708C>T (p.Asn236=) rs766045217 0.00001
NM_000435.3(NOTCH3):c.730C>T (p.Arg244Ter) rs2046929318 0.00001
NM_000435.3(NOTCH3):c.786C>T (p.Cys262=) rs748238171 0.00001
NM_000435.3(NOTCH3):c.882G>T (p.Thr294=) rs998446906 0.00001
NM_000435.3(NOTCH3):c.93G>C (p.Leu31=) rs1246904148 0.00001
NC_000019.9:g.(?_15284859)_(15311716_?)dup
NM_000435.3(NOTCH3):c.1000G>C (p.Ala334Pro)
NM_000435.3(NOTCH3):c.1013G>T (p.Cys338Phe)
NM_000435.3(NOTCH3):c.1024A>G (p.Met342Val)
NM_000435.3(NOTCH3):c.1036+15dup
NM_000435.3(NOTCH3):c.1036+18C>T
NM_000435.3(NOTCH3):c.1036+20G>T rs746793327
NM_000435.3(NOTCH3):c.1037-19del rs751607564
NM_000435.3(NOTCH3):c.1047T>C (p.Cys349=) rs1441855773
NM_000435.3(NOTCH3):c.1053G>A (p.Leu351=)
NM_000435.3(NOTCH3):c.1066G>A (p.Val356Ile) rs1599392135
NM_000435.3(NOTCH3):c.108G>A (p.Pro36=)
NM_000435.3(NOTCH3):c.1109C>T (p.Pro370Leu)
NM_000435.3(NOTCH3):c.1120C>T (p.Arg374Trp) rs867723391
NM_000435.3(NOTCH3):c.1121G>A (p.Arg374Gln)
NM_000435.3(NOTCH3):c.1122G>C (p.Arg374=)
NM_000435.3(NOTCH3):c.112G>T (p.Ala38Ser)
NM_000435.3(NOTCH3):c.1135T>G (p.Cys379Gly) rs1555729105
NM_000435.3(NOTCH3):c.1136G>C (p.Cys379Ser) rs1599391986
NM_000435.3(NOTCH3):c.1143C>T (p.Pro381=)
NM_000435.3(NOTCH3):c.1144G>T (p.Gly382Cys) rs2145437046
NM_000435.3(NOTCH3):c.1151C>T (p.Thr384Met)
NM_000435.3(NOTCH3):c.1179C>A (p.Asp393Glu)
NM_000435.3(NOTCH3):c.1179C>T (p.Asp393=) rs753211079
NM_000435.3(NOTCH3):c.118+15C>G rs2145457325
NM_000435.3(NOTCH3):c.1182G>T (p.Glu394Asp)
NM_000435.3(NOTCH3):c.1184G>A (p.Cys395Tyr)
NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) rs863225297
NM_000435.3(NOTCH3):c.119-19T>C
NM_000435.3(NOTCH3):c.119-7C>T
NM_000435.3(NOTCH3):c.1191C>T (p.Ile397=)
NM_000435.3(NOTCH3):c.1193-4G>T
NM_000435.3(NOTCH3):c.1195G>A (p.Ala399Thr) rs1390414547
NM_000435.3(NOTCH3):c.120C>T (p.Ala40=) rs146904189
NM_000435.3(NOTCH3):c.1223G>T (p.Cys408Phe)
NM_000435.3(NOTCH3):c.1224C>T (p.Cys408=)
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000435.3(NOTCH3):c.1261C>T (p.Arg421Cys) rs1555729068
NM_000435.3(NOTCH3):c.1268A>G (p.Tyr423Cys) rs1555729064
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys) rs1599391536
NM_000435.3(NOTCH3):c.1282T>C (p.Cys428Arg)
NM_000435.3(NOTCH3):c.1283G>A (p.Cys428Tyr) rs1568360455
NM_000435.3(NOTCH3):c.1303T>C (p.Cys435Arg)
NM_000435.3(NOTCH3):c.1304G>A (p.Cys435Tyr)
NM_000435.3(NOTCH3):c.1305T>G (p.Cys435Trp) rs2046907170
NM_000435.3(NOTCH3):c.1308G>A (p.Leu436=)
NM_000435.3(NOTCH3):c.1321C>G (p.Arg441Gly)
NM_000435.3(NOTCH3):c.1327C>T (p.Gln443Ter)
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) rs762734007
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.1369T>C (p.Cys457Arg)
NM_000435.3(NOTCH3):c.1385C>T (p.Thr462Ile)
NM_000435.3(NOTCH3):c.1392C>G (p.Thr464=) rs1599390667
NM_000435.3(NOTCH3):c.1441G>T (p.Gly481Cys) rs1263780227
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly) rs1555730197
NM_000435.3(NOTCH3):c.146G>A (p.Cys49Tyr) rs193921045
NM_000435.3(NOTCH3):c.1488C>G (p.Pro496=)
NM_000435.3(NOTCH3):c.1490C>G (p.Ser497Trp)
NM_000435.3(NOTCH3):c.1508C>T (p.Thr503Met)
NM_000435.3(NOTCH3):c.1510T>A (p.Cys504Ser) rs2145434432
NM_000435.3(NOTCH3):c.1510T>G (p.Cys504Gly)
NM_000435.3(NOTCH3):c.1511G>A (p.Cys504Tyr)
NM_000435.3(NOTCH3):c.1512T>G (p.Cys504Trp)
NM_000435.3(NOTCH3):c.1534G>A (p.Ala512Thr)
NM_000435.3(NOTCH3):c.1561_1569dup (p.Val523_Asp524insLysCysVal)
NM_000435.3(NOTCH3):c.1566C>G (p.Cys522Trp)
NM_000435.3(NOTCH3):c.1572C>G (p.Asp524Glu)
NM_000435.3(NOTCH3):c.1602C>T (p.Ala534=) rs1275069380
NM_000435.3(NOTCH3):c.1607-14T>C
NM_000435.3(NOTCH3):c.1607-5C>T rs372869012
NM_000435.3(NOTCH3):c.1619C>G (p.Thr540Arg)
NM_000435.3(NOTCH3):c.1620G>T (p.Thr540=) rs75617410
NM_000435.3(NOTCH3):c.1621C>A (p.Leu541Met) rs1410670785
NM_000435.3(NOTCH3):c.1625G>A (p.Cys542Tyr)
NM_000435.3(NOTCH3):c.1635C>T (p.Asn545=)
NM_000435.3(NOTCH3):c.1641C>T (p.Asp547=)
NM_000435.3(NOTCH3):c.1651C>T (p.Pro551Ser)
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1673G>A (p.Arg558His)
NM_000435.3(NOTCH3):c.1698C>G (p.Phe566Leu)
NM_000435.3(NOTCH3):c.1701A>C (p.Ser567=) rs1599389297
NM_000435.3(NOTCH3):c.1709G>T (p.Cys570Phe) rs2145433085
NM_000435.3(NOTCH3):c.1715C>T (p.Pro572Leu)
NM_000435.3(NOTCH3):c.1720T>C (p.Tyr574His) rs1358697792
NM_000435.3(NOTCH3):c.1725G>A (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.1725G>C (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.1732C>A (p.Arg578Ser)
NM_000435.3(NOTCH3):c.1749G>A (p.Val583=)
NM_000435.3(NOTCH3):c.174G>T (p.Leu58=)
NM_000435.3(NOTCH3):c.1756T>C (p.Cys586Arg)
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys) rs754554486
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys) rs764148985
NM_000435.3(NOTCH3):c.1797C>G (p.Asp599Glu)
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg) rs1568359346
NM_000435.3(NOTCH3):c.1820G>A (p.Arg607His)
NM_000435.3(NOTCH3):c.1822T>C (p.Cys608Arg)
NM_000435.3(NOTCH3):c.182G>A (p.Arg61Gln)
NM_000435.3(NOTCH3):c.1840+10G>C
NM_000435.3(NOTCH3):c.1840+18G>A
NM_000435.3(NOTCH3):c.1841-17A>G
NM_000435.3(NOTCH3):c.1841-6C>A
NM_000435.3(NOTCH3):c.1883C>A (p.Pro628His)
NM_000435.3(NOTCH3):c.1890C>T (p.Thr630=)
NM_000435.3(NOTCH3):c.1893T>C (p.Phe631=) rs1217549230
NM_000435.3(NOTCH3):c.1903C>T (p.Arg635Cys) rs753801611
NM_000435.3(NOTCH3):c.1913T>C (p.Ile638Thr) rs2145432343
NM_000435.3(NOTCH3):c.1919G>A (p.Arg640His)
NM_000435.3(NOTCH3):c.191C>A (p.Ala64Asp)
NM_000435.3(NOTCH3):c.1930G>A (p.Val644Ile)
NM_000435.3(NOTCH3):c.194G>A (p.Cys65Tyr) rs1555730176
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.1951+16C>T
NM_000435.3(NOTCH3):c.1952-13G>A
NM_000435.3(NOTCH3):c.1952-15T>C
NM_000435.3(NOTCH3):c.1956C>G (p.Pro652=)
NM_000435.3(NOTCH3):c.1957C>A (p.Leu653Ile) rs1336688514
NM_000435.3(NOTCH3):c.1957C>T (p.Leu653Phe)
NM_000435.3(NOTCH3):c.1973T>C (p.Ile658Thr)
NM_000435.3(NOTCH3):c.1999G>T (p.Gly667Cys) rs376046941
NM_000435.3(NOTCH3):c.200G>T (p.Cys67Phe) rs1555729615
NM_000435.3(NOTCH3):c.2071C>A (p.Leu691Ile)
NM_000435.3(NOTCH3):c.2085G>A (p.Pro695=)
NM_000435.3(NOTCH3):c.208G>T (p.Gly70Cys)
NM_000435.3(NOTCH3):c.2145-14C>A
NM_000435.3(NOTCH3):c.2180C>T (p.Pro727Leu) rs2046872807
NM_000435.3(NOTCH3):c.21CCG[6] (p.Arg13dup) rs894374843
NM_000435.3(NOTCH3):c.2217G>T (p.Glu739Asp)
NM_000435.3(NOTCH3):c.2236G>T (p.Gly746Cys)
NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro) rs145069047
NM_000435.3(NOTCH3):c.226T>C (p.Cys76Arg) rs1555729610
NM_000435.3(NOTCH3):c.2296+3G>T rs2145429314
NM_000435.3(NOTCH3):c.2318C>A (p.Ser773Tyr) rs2145428834
NM_000435.3(NOTCH3):c.231G>C (p.Gln77His) rs1438944422
NM_000435.3(NOTCH3):c.2330C>T (p.Pro777Leu)
NM_000435.3(NOTCH3):c.2334C>T (p.Asn778=)
NM_000435.3(NOTCH3):c.2341G>A (p.Glu781Lys) rs2145428734
NM_000435.3(NOTCH3):c.2377C>T (p.Leu793=)
NM_000435.3(NOTCH3):c.2394C>A (p.Cys798Ter)
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly) rs1599395616
NM_000435.3(NOTCH3):c.2410+12G>T
NM_000435.3(NOTCH3):c.2410+15dup rs747731340
NM_000435.3(NOTCH3):c.2411-19C>A rs556597921
NM_000435.3(NOTCH3):c.244T>C (p.Cys82Arg) rs2046937845
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) rs1023306013
NM_000435.3(NOTCH3):c.2467C>A (p.His823Asn)
NM_000435.3(NOTCH3):c.2499C>T (p.Phe833=)
NM_000435.3(NOTCH3):c.2525C>G (p.Thr842Ser) rs1215184250
NM_000435.3(NOTCH3):c.2641G>A (p.Gly881Ser) rs1436528088
NM_000435.3(NOTCH3):c.2645C>T (p.Pro882Leu) rs760472019
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys) rs1555729604
NM_000435.3(NOTCH3):c.2699C>T (p.Thr900Ile)
NM_000435.3(NOTCH3):c.2713G>A (p.Val905Met)
NM_000435.3(NOTCH3):c.2716G>A (p.Ala906Thr)
NM_000435.3(NOTCH3):c.2717C>T (p.Ala906Val) rs754997329
NM_000435.3(NOTCH3):c.2733C>T (p.Thr911=) rs750239290
NM_000435.3(NOTCH3):c.2741_2742inv (p.Pro914Leu)
NM_000435.3(NOTCH3):c.2747A>G (p.Tyr916Cys)
NM_000435.3(NOTCH3):c.2749G>A (p.Gly917Arg) rs150338460
NM_000435.3(NOTCH3):c.2762G>A (p.Cys921Tyr)
NM_000435.3(NOTCH3):c.276C>T (p.Val92=)
NM_000435.3(NOTCH3):c.2773C>G (p.Leu925Val) rs184033385
NM_000435.3(NOTCH3):c.2792+15T>C
NM_000435.3(NOTCH3):c.2793-2A>G
NM_000435.3(NOTCH3):c.2826C>T (p.Gly942=) rs758320993
NM_000435.3(NOTCH3):c.282G>A (p.Gln94=)
NM_000435.3(NOTCH3):c.2857G>T (p.Gly953Cys)
NM_000435.3(NOTCH3):c.289G>A (p.Val97Met)
NM_000435.3(NOTCH3):c.2918A>C (p.His973Pro)
NM_000435.3(NOTCH3):c.2926G>A (p.Val976Ile) rs771899820
NM_000435.3(NOTCH3):c.2953C>T (p.Arg985Cys) rs1188569102
NM_000435.3(NOTCH3):c.2956T>C (p.Cys986Arg)
NM_000435.3(NOTCH3):c.2962T>C (p.Cys988Arg) rs2145422681
NM_000435.3(NOTCH3):c.2968G>C (p.Glu990Gln) rs759991207
NM_000435.3(NOTCH3):c.2985G>A (p.Pro995=)
NM_000435.3(NOTCH3):c.2989T>G (p.Cys997Gly) rs1555727960
NM_000435.3(NOTCH3):c.2995-4C>T rs774326191
NM_000435.3(NOTCH3):c.2995-7C>T rs767871714
NM_000435.3(NOTCH3):c.29G>A (p.Arg10His)
NM_000435.3(NOTCH3):c.3009G>T (p.Trp1003Cys)
NM_000435.3(NOTCH3):c.3016C>T (p.Arg1006Cys) rs1555727942
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.304G>T (p.Ala102Ser)
NM_000435.3(NOTCH3):c.3064T>A (p.Cys1022Ser) rs2046833026
NM_000435.3(NOTCH3):c.3084G>C (p.Trp1028Cys) rs2046832726
NM_000435.3(NOTCH3):c.3088G>A (p.Gly1030Arg)
NM_000435.3(NOTCH3):c.3107G>A (p.Arg1036Gln)
NM_000435.3(NOTCH3):c.313T>C (p.Ser105Pro)
NM_000435.3(NOTCH3):c.3142+7G>A rs1159766861
NM_000435.3(NOTCH3):c.3143-18C>T
NM_000435.3(NOTCH3):c.3143-7T>C
NM_000435.3(NOTCH3):c.3148C>T (p.Arg1050Trp)
NM_000435.3(NOTCH3):c.315A>C (p.Ser105=)
NM_000435.3(NOTCH3):c.316T>C (p.Cys106Arg) rs1555729589
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr) rs1064794216
NM_000435.3(NOTCH3):c.3206A>G (p.Tyr1069Cys) rs1438064001
NM_000435.3(NOTCH3):c.322T>A (p.Cys108Ser)
NM_000435.3(NOTCH3):c.322T>C (p.Cys108Arg)
NM_000435.3(NOTCH3):c.3231T>G (p.Thr1077=) rs1192845628
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.3318C>T (p.Tyr1106=)
NM_000435.3(NOTCH3):c.3327+16C>A
NM_000435.3(NOTCH3):c.3328-20C>G
NM_000435.3(NOTCH3):c.3366C>T (p.Asp1122=)
NM_000435.3(NOTCH3):c.341-12T>C
NM_000435.3(NOTCH3):c.341-2A>G rs2046935672
NM_000435.3(NOTCH3):c.341-32_341-21del
NM_000435.3(NOTCH3):c.3420C>T (p.Leu1140=)
NM_000435.3(NOTCH3):c.3425C>T (p.Ala1142Val)
NM_000435.3(NOTCH3):c.3455C>T (p.Thr1152Met)
NM_000435.3(NOTCH3):c.3456G>T (p.Thr1152=)
NM_000435.3(NOTCH3):c.3471C>T (p.Cys1157=)
NM_000435.3(NOTCH3):c.3495C>T (p.Gly1165=)
NM_000435.3(NOTCH3):c.350G>A (p.Cys117Tyr) rs773539041
NM_000435.3(NOTCH3):c.3548T>C (p.Val1183Ala)
NM_000435.3(NOTCH3):c.3589T>C (p.Tyr1197His)
NM_000435.3(NOTCH3):c.3602G>A (p.Arg1201His)
NM_000435.3(NOTCH3):c.3628C>G (p.Arg1210Gly)
NM_000435.3(NOTCH3):c.36T>C (p.Arg12=) rs2145457741
NM_000435.3(NOTCH3):c.3718+5G>A
NM_000435.3(NOTCH3):c.3719-8T>C
NM_000435.3(NOTCH3):c.3727T>C (p.Cys1243Arg)
NM_000435.3(NOTCH3):c.3747C>T (p.Pro1249=)
NM_000435.3(NOTCH3):c.3757_3758delinsAG (p.Gln1253Arg) rs2046814637
NM_000435.3(NOTCH3):c.37C>T (p.Arg13Cys)
NM_000435.3(NOTCH3):c.3802G>A (p.Gly1268Arg)
NM_000435.3(NOTCH3):c.3838C>T (p.Pro1280Ser)
NM_000435.3(NOTCH3):c.3840G>T (p.Pro1280=) rs1197487478
NM_000435.3(NOTCH3):c.3863G>C (p.Arg1288Pro)
NM_000435.3(NOTCH3):c.3865G>A (p.Val1289Met)
NM_000435.3(NOTCH3):c.3871C>G (p.Arg1291Gly) rs2046807463
NM_000435.3(NOTCH3):c.3893G>T (p.Cys1298Phe) rs2046807248
NM_000435.3(NOTCH3):c.3901G>A (p.Gly1301Ser)
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser) rs767150916
NM_000435.3(NOTCH3):c.3926G>C (p.Arg1309Pro)
NM_000435.3(NOTCH3):c.3932C>T (p.Pro1311Leu)
NM_000435.3(NOTCH3):c.3949C>T (p.Pro1317Ser) rs1481252730
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.3982C>A (p.Pro1328Thr) rs2145415421
NM_000435.3(NOTCH3):c.3989C>T (p.Ser1330Leu)
NM_000435.3(NOTCH3):c.4000G>T (p.Ala1334Ser)
NM_000435.3(NOTCH3):c.4004_4006dup (p.Ser1335dup) rs1555727412
NM_000435.3(NOTCH3):c.4025C>T (p.Ala1342Val)
NM_000435.3(NOTCH3):c.4029_4030del (p.Cys1344fs)
NM_000435.3(NOTCH3):c.4039G>C (p.Gly1347Arg) rs1344432803
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) rs1174625611
NM_000435.3(NOTCH3):c.431G>T (p.Cys144Phe)
NM_000435.3(NOTCH3):c.4344G>A (p.Ser1448=)
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) rs1236699193
NM_000435.3(NOTCH3):c.4404-8C>T
NM_000435.3(NOTCH3):c.4419G>C (p.Lys1473Asn)
NM_000435.3(NOTCH3):c.4431C>A (p.Asp1477Glu)
NM_000435.3(NOTCH3):c.4534G>A (p.Val1512Met)
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000435.3(NOTCH3):c.458G>A (p.Arg153His)
NM_000435.3(NOTCH3):c.4615C>T (p.Leu1539=) rs144708461
NM_000435.3(NOTCH3):c.4627C>A (p.Leu1543Met) rs111838442
NM_000435.3(NOTCH3):c.4648C>G (p.His1550Asp)
NM_000435.3(NOTCH3):c.4676A>G (p.His1559Arg) rs2145408576
NM_000435.3(NOTCH3):c.4722C>A (p.Ala1574=)
NM_000435.3(NOTCH3):c.4736+9dup rs369417981
NM_000435.3(NOTCH3):c.4798T>A (p.Cys1600Ser) rs2046726978
NM_000435.3(NOTCH3):c.479A>G (p.Asp160Gly)
NM_000435.3(NOTCH3):c.4806C>A (p.Pro1602=) rs578082632
NM_000435.3(NOTCH3):c.4860G>A (p.Leu1620=)
NM_000435.3(NOTCH3):c.4864T>C (p.Phe1622Leu)
NM_000435.3(NOTCH3):c.4869G>A (p.Pro1623=) rs148574670
NM_000435.3(NOTCH3):c.4869G>C (p.Pro1623=) rs148574670
NM_000435.3(NOTCH3):c.4892-4T>G
NM_000435.3(NOTCH3):c.4892-7C>T
NM_000435.3(NOTCH3):c.4899G>A (p.Pro1633=) rs200797732
NM_000435.3(NOTCH3):c.4899G>C (p.Pro1633=)
NM_000435.3(NOTCH3):c.4939C>G (p.Leu1647Val)
NM_000435.3(NOTCH3):c.4944G>A (p.Val1648=) rs1387616524
NM_000435.3(NOTCH3):c.5005C>G (p.Arg1669Gly)
NM_000435.3(NOTCH3):c.501C>T (p.Pro167=)
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.506G>A (p.Arg169His)
NM_000435.3(NOTCH3):c.5082G>A (p.Arg1694=) rs2145399915
NM_000435.3(NOTCH3):c.5089G>T (p.Val1697Leu)
NM_000435.3(NOTCH3):c.5103G>A (p.Ala1701=) rs771045579
NM_000435.3(NOTCH3):c.5114+15C>G
NM_000435.3(NOTCH3):c.5151G>A (p.Val1717=)
NM_000435.3(NOTCH3):c.5199+11C>G rs368144892
NM_000435.3(NOTCH3):c.5199+13dup
NM_000435.3(NOTCH3):c.5199+7C>T rs2145399219
NM_000435.3(NOTCH3):c.521G>A (p.Cys174Tyr) rs1555729486
NM_000435.3(NOTCH3):c.5229G>A (p.Glu1743=)
NM_000435.3(NOTCH3):c.5256A>G (p.Gln1752=)
NM_000435.3(NOTCH3):c.531_532delinsTT (p.Pro178Ser) rs2145441756
NM_000435.3(NOTCH3):c.5320G>A (p.Asp1774Asn)
NM_000435.3(NOTCH3):c.5328T>C (p.Asp1776=) rs2145394590
NM_000435.3(NOTCH3):c.5362+20C>T rs2145394446
NM_000435.3(NOTCH3):c.5363-13C>G
NM_000435.3(NOTCH3):c.5400G>C (p.Gly1800=)
NM_000435.3(NOTCH3):c.5505T>C (p.Thr1835=)
NM_000435.3(NOTCH3):c.5509C>T (p.Arg1837Cys)
NM_000435.3(NOTCH3):c.550C>T (p.Gln184Ter)
NM_000435.3(NOTCH3):c.5543G>A (p.Arg1848His)
NM_000435.3(NOTCH3):c.554G>A (p.Cys185Tyr) rs1555729477
NM_000435.3(NOTCH3):c.5552G>A (p.Arg1851His)
NM_000435.3(NOTCH3):c.5603A>G (p.Gln1868Arg) rs2145391979
NM_000435.3(NOTCH3):c.5604G>A (p.Gln1868=)
NM_000435.3(NOTCH3):c.5626C>T (p.Leu1876=)
NM_000435.3(NOTCH3):c.5668-11C>T rs199850662
NM_000435.3(NOTCH3):c.5668-9C>G rs375464998
NM_000435.3(NOTCH3):c.5668-9C>T rs375464998
NM_000435.3(NOTCH3):c.5704C>T (p.Arg1902Cys)
NM_000435.3(NOTCH3):c.5733C>A (p.Ile1911=)
NM_000435.3(NOTCH3):c.5734C>G (p.Leu1912Val)
NM_000435.3(NOTCH3):c.5738C>T (p.Ala1913Val)
NM_000435.3(NOTCH3):c.5746C>T (p.Leu1916=)
NM_000435.3(NOTCH3):c.5750C>T (p.Ala1917Val)
NM_000435.3(NOTCH3):c.5778C>T (p.Ile1926=)
NM_000435.3(NOTCH3):c.5780C>A (p.Ala1927Asp)
NM_000435.3(NOTCH3):c.5790T>C (p.Ala1930=) rs1425060067
NM_000435.3(NOTCH3):c.5795_5796delinsAT (p.Val1932Asp)
NM_000435.3(NOTCH3):c.580T>C (p.Cys194Arg) rs1568361818
NM_000435.3(NOTCH3):c.5816-6C>T
NM_000435.3(NOTCH3):c.5898C>T (p.Asp1966=) rs1599361324
NM_000435.3(NOTCH3):c.589C>T (p.Pro197Ser)
NM_000435.3(NOTCH3):c.5902C>T (p.Gln1968Ter)
NM_000435.3(NOTCH3):c.5914-10G>C
NM_000435.3(NOTCH3):c.5914-4C>G
NM_000435.3(NOTCH3):c.593C>T (p.Ala198Val) rs140914494
NM_000435.3(NOTCH3):c.5942G>A (p.Arg1981His)
NM_000435.3(NOTCH3):c.5943C>T (p.Arg1981=)
NM_000435.3(NOTCH3):c.5993G>A (p.Arg1998His) rs2046644859
NM_000435.3(NOTCH3):c.5994T>G (p.Arg1998=) rs1599360366
NM_000435.3(NOTCH3):c.6026G>A (p.Arg2009Gln)
NM_000435.3(NOTCH3):c.602G>A (p.Cys201Tyr) rs1555729468
NM_000435.3(NOTCH3):c.602G>C (p.Cys201Ser) rs1555729468
NM_000435.3(NOTCH3):c.6030C>T (p.Asp2010=) rs767028544
NM_000435.3(NOTCH3):c.6043A>G (p.Arg2015Gly) rs2046644200
NM_000435.3(NOTCH3):c.605_606inv (p.Ala202Val)
NM_000435.3(NOTCH3):c.6090C>G (p.Pro2030=)
NM_000435.3(NOTCH3):c.6096C>T (p.Ser2032=) rs755227083
NM_000435.3(NOTCH3):c.6097C>A (p.Pro2033Thr) rs375213868
NM_000435.3(NOTCH3):c.6097C>G (p.Pro2033Ala) rs375213868
NM_000435.3(NOTCH3):c.6097C>T (p.Pro2033Ser)
NM_000435.3(NOTCH3):c.6102dup (p.Gly2035fs)
NM_000435.3(NOTCH3):c.6144C>G (p.Ala2048=)
NM_000435.3(NOTCH3):c.6169C>T (p.Gln2057Ter) rs2145382884
NM_000435.3(NOTCH3):c.617G>A (p.Cys206Tyr)
NM_000435.3(NOTCH3):c.6187A>T (p.Ser2063Cys)
NM_000435.3(NOTCH3):c.6194G>A (p.Arg2065Lys)
NM_000435.3(NOTCH3):c.61C>T (p.Pro21Ser)
NM_000435.3(NOTCH3):c.6201C>G (p.Pro2067=)
NM_000435.3(NOTCH3):c.6201C>T (p.Pro2067=)
NM_000435.3(NOTCH3):c.6201dup (p.Gly2068fs)
NM_000435.3(NOTCH3):c.6227G>T (p.Gly2076Val)
NM_000435.3(NOTCH3):c.6233G>A (p.Arg2078Gln)
NM_000435.3(NOTCH3):c.6260C>G (p.Ala2087Gly) rs2145382342
NM_000435.3(NOTCH3):c.6267G>C (p.Pro2089=) rs577303432
NM_000435.3(NOTCH3):c.6269del (p.Gly2090fs) rs1011713833
NM_000435.3(NOTCH3):c.6287C>T (p.Ser2096Leu)
NM_000435.3(NOTCH3):c.6288G>A (p.Ser2096=)
NM_000435.3(NOTCH3):c.6288G>T (p.Ser2096=) rs780963644
NM_000435.3(NOTCH3):c.6294G>A (p.Thr2098=)
NM_000435.3(NOTCH3):c.6299C>A (p.Ser2100Ter) rs2145382111
NM_000435.3(NOTCH3):c.6323C>T (p.Pro2108Leu)
NM_000435.3(NOTCH3):c.634T>G (p.Cys212Gly)
NM_000435.3(NOTCH3):c.6351C>T (p.Ser2117=) rs1599359717
NM_000435.3(NOTCH3):c.6379T>A (p.Tyr2127Asn)
NM_000435.3(NOTCH3):c.6409C>G (p.Leu2137Val) rs2046639059
NM_000435.3(NOTCH3):c.6449G>A (p.Arg2150His)
NM_000435.3(NOTCH3):c.6454C>G (p.Pro2152Ala) rs2145381350
NM_000435.3(NOTCH3):c.6536C>T (p.Ala2179Val)
NM_000435.3(NOTCH3):c.6559C>G (p.Leu2187Val) rs969052177
NM_000435.3(NOTCH3):c.6570G>C (p.Ala2190=)
NM_000435.3(NOTCH3):c.6578C>A (p.Pro2193His)
NM_000435.3(NOTCH3):c.6587_6592dup (p.Asn2197_Pro2198insLeuAsn)
NM_000435.3(NOTCH3):c.6633C>T (p.Tyr2211=)
NM_000435.3(NOTCH3):c.6643C>A (p.Pro2215Thr)
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.3(NOTCH3):c.6668_6669delinsTT (p.Ala2223Val)
NM_000435.3(NOTCH3):c.6700C>T (p.Arg2234Cys)
NM_000435.3(NOTCH3):c.6705_6730del (p.Phe2235fs) rs2145380263
NM_000435.3(NOTCH3):c.6710G>T (p.Arg2237Leu) rs537601286
NM_000435.3(NOTCH3):c.6727C>T (p.Pro2243Ser)
NM_000435.3(NOTCH3):c.6755C>T (p.Pro2252Leu) rs201073642
NM_000435.3(NOTCH3):c.6767C>G (p.Ala2256Gly)
NM_000435.3(NOTCH3):c.6767C>T (p.Ala2256Val)
NM_000435.3(NOTCH3):c.679+10C>G rs975242904
NM_000435.3(NOTCH3):c.6792A>C (p.Ser2264=)
NM_000435.3(NOTCH3):c.680-13C>T rs2145440937
NM_000435.3(NOTCH3):c.6801C>T (p.Ser2267=)
NM_000435.3(NOTCH3):c.6838A>G (p.Met2280Val)
NM_000435.3(NOTCH3):c.6848C>T (p.Thr2283Ile)
NM_000435.3(NOTCH3):c.6873A>C (p.Pro2291=)
NM_000435.3(NOTCH3):c.6905A>G (p.Gln2302Arg)
NM_000435.3(NOTCH3):c.6928C>T (p.Gln2310Ter)
NM_000435.3(NOTCH3):c.714C>T (p.Asp238=)
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr) rs1599394351
NM_000435.3(NOTCH3):c.733T>C (p.Cys245Arg) rs2145440767
NM_000435.3(NOTCH3):c.738C>T (p.Leu246=) rs2145440752
NM_000435.3(NOTCH3):c.740A>G (p.Asn247Ser)
NM_000435.3(NOTCH3):c.742_743delinsAT (p.Gly248Met)
NM_000435.3(NOTCH3):c.748dup (p.Thr250fs)
NM_000435.3(NOTCH3):c.751T>A (p.Cys251Ser)
NM_000435.3(NOTCH3):c.752G>A (p.Cys251Tyr) rs1555729405
NM_000435.3(NOTCH3):c.763G>A (p.Val255Ile) rs1160655218
NM_000435.3(NOTCH3):c.77C>T (p.Ala26Val) rs1329279009
NM_000435.3(NOTCH3):c.78G>C (p.Ala26=)
NM_000435.3(NOTCH3):c.790C>T (p.Pro264Ser)
NM_000435.3(NOTCH3):c.802+12G>A
NM_000435.3(NOTCH3):c.802+6C>G
NM_000435.3(NOTCH3):c.810C>T (p.Phe270=) rs2145440271
NM_000435.3(NOTCH3):c.827A>T (p.Asp276Val)
NM_000435.3(NOTCH3):c.83C>G (p.Pro28Arg)
NM_000435.3(NOTCH3):c.912T>C (p.Asn304=) rs1372388350
NM_000435.3(NOTCH3):c.924C>T (p.Gly308=) rs1043995
NM_000435.3(NOTCH3):c.931T>G (p.Cys311Gly)
NM_000435.3(NOTCH3):c.93G>A (p.Leu31=) rs1246904148
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr) rs1568361404
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) rs137852641

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