ClinVar Miner

List of variants studied for cerebral arteriopathy with subcortical infarcts and leukoencephalopathy

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 427
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002775.5(HTRA1):c.1274+8G>A rs2672586 0.99939
NM_000435.3(NOTCH3):c.*338A>C rs7247906 0.90792
NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=) rs1044006 0.90693
NM_000435.3(NOTCH3):c.5913+28T>G rs4809029 0.90682
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.5815+36G>A rs2074618 0.90515
NM_000435.3(NOTCH3):c.5363-21G>A rs10416777 0.90510
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.5913+55A>G rs757472 0.86388
NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=) rs1043997 0.76937
NM_000435.3(NOTCH3):c.2792+21G>A rs11669982 0.76928
NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val) rs1044009 0.69087
NM_000435.3(NOTCH3):c.*890C>T rs1044123 0.68217
NM_000435.3(NOTCH3):c.*808G>A rs1044116 0.68208
NM_000435.3(NOTCH3):c.*668G>T rs1044055 0.68206
NM_000435.3(NOTCH3):c.3461-32C>T rs56061231 0.63976
NM_002775.5(HTRA1):c.1274+14G>A rs2272599 0.63755
NM_000435.3(NOTCH3):c.4892-22G>T rs2074620 0.59905
NM_000435.3(NOTCH3):c.3837+21T>A rs11670823 0.56639
NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=) rs1043996 0.56438
NM_002775.5(HTRA1):c.102C>T (p.Ala34=) rs1049331 0.22934
NM_000435.3(NOTCH3):c.303C>T (p.Thr101=) rs3815188 0.18114
NM_002775.5(HTRA1):c.1275-36C>T rs2293871 0.17476
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.*563T>C rs77669983 0.03615
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.*837G>A rs12082 0.02010
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.*23T>A rs73504084 0.00989
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_002775.5(HTRA1):c.59C>T (p.Ala20Val) rs369149111 0.00841
NM_000435.3(NOTCH3):c.*96C>T rs117165744 0.00826
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.*370A>G rs139792065 0.00734
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.*544C>T rs368577217 0.00387
NM_000435.3(NOTCH3):c.3719-11C>T rs78907190 0.00367
NM_000435.3(NOTCH3):c.*4G>A rs182111655 0.00356
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.*85G>T rs185310376 0.00248
NM_000435.3(NOTCH3):c.*937T>C rs16980378 0.00239
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511 0.00217
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His) rs75291244 0.00213
NM_000435.3(NOTCH3):c.*463G>A rs145095999 0.00192
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.6237G>A (p.Gly2079=) rs376598183 0.00145
NM_000435.3(NOTCH3):c.*845G>T rs571584841 0.00123
NM_000435.3(NOTCH3):c.4071C>T (p.Pro1357=) rs542856470 0.00118
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.338G>A (p.Arg113Gln) rs143385744 0.00064
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.4639C>G (p.Leu1547Val) rs150037063 0.00043
NM_000435.3(NOTCH3):c.*306C>T rs181930934 0.00036
NM_000435.3(NOTCH3):c.1194C>T (p.Gly398=) rs140368657 0.00036
NM_000435.3(NOTCH3):c.2580C>T (p.Asn860=) rs201436750 0.00035
NM_000435.3(NOTCH3):c.*3C>T rs202157455 0.00030
NM_000435.3(NOTCH3):c.*517C>T rs532350128 0.00030
NM_000435.3(NOTCH3):c.*717C>G rs3087938 0.00029
NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp) rs200504060 0.00028
NM_000435.3(NOTCH3):c.964G>A (p.Val322Met) rs115029695 0.00025
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.2932A>C (p.Ser978Arg) rs141956294 0.00023
NM_000435.3(NOTCH3):c.831G>A (p.Glu277=) rs145049433 0.00021
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650 0.00019
NM_000435.3(NOTCH3):c.2831A>G (p.Asn944Ser) rs754545176 0.00019
NM_000435.3(NOTCH3):c.5466C>T (p.Ser1822=) rs148053028 0.00019
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.1760G>A (p.Arg587His) rs142787620 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.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_002775.5(HTRA1):c.1333G>A (p.Ala445Thr) rs371279115 0.00013
NM_000435.3(NOTCH3):c.135C>T (p.Asp45=) rs370177269 0.00012
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942 0.00012
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) rs370504038 0.00012
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.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_002775.5(HTRA1):c.961G>A (p.Ala321Thr) rs587776449 0.00010
NM_000435.3(NOTCH3):c.*656T>C rs754043656 0.00009
NM_000435.3(NOTCH3):c.283A>C (p.Ser95Arg) rs777645491 0.00009
NM_000435.3(NOTCH3):c.4725C>A (p.Pro1575=) rs374042078 0.00009
NM_000435.3(NOTCH3):c.6239G>A (p.Arg2080Gln) rs759896413 0.00009
NM_000435.3(NOTCH3):c.6569C>T (p.Ala2190Val) rs528151296 0.00009
NM_000435.3(NOTCH3):c.*382T>G rs886054250 0.00008
NM_000435.3(NOTCH3):c.1500C>T (p.Ser500=) rs146055867 0.00008
NM_000435.3(NOTCH3):c.3227G>A (p.Arg1076His) rs771803651 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.-57G>A rs1193874164 0.00007
NM_000435.3(NOTCH3):c.3659G>A (p.Arg1220Gln) rs370233852 0.00007
NM_000435.3(NOTCH3):c.5678G>A (p.Arg1893Gln) rs372834264 0.00007
NM_002775.5(HTRA1):c.1274C>T (p.Ala425Val) rs372750076 0.00007
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189 0.00006
NM_000435.3(NOTCH3):c.1920C>T (p.Arg640=) rs140818133 0.00006
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu) rs778715118 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.6619C>T (p.Arg2207Trp) rs753170185 0.00006
NM_000435.3(NOTCH3):c.754G>A (p.Val252Met) rs115836330 0.00006
NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met) rs564452430 0.00005
NM_000435.3(NOTCH3):c.1631G>A (p.Arg544His) rs751284168 0.00005
NM_000435.3(NOTCH3):c.2280C>T (p.Cys760=) rs754147124 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.351C>T (p.Cys117=) rs200881673 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.6521G>A (p.Arg2174Gln) rs1337328035 0.00005
NM_000435.3(NOTCH3):c.1036+10C>T rs776962888 0.00004
NM_000435.3(NOTCH3):c.171G>C (p.Gln57His) rs755917588 0.00004
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 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.3120C>T (p.Cys1040=) rs372688320 0.00004
NM_000435.3(NOTCH3):c.3806G>T (p.Gly1269Val) rs781401262 0.00004
NM_000435.3(NOTCH3):c.6334G>A (p.Gly2112Ser) rs372833545 0.00004
NM_000435.3(NOTCH3):c.825G>A (p.Val275=) rs138837495 0.00004
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) rs113993970 0.00004
NM_033629.6(TREX1):c.416del (p.Ala139fs) rs763229085 0.00004
NM_000435.3(NOTCH3):c.1692C>T (p.Ala564=) rs372158498 0.00003
NM_000435.3(NOTCH3):c.2455C>G (p.Pro819Ala) rs1301248585 0.00003
NM_000435.3(NOTCH3):c.2588C>T (p.Ser863Leu) rs758913191 0.00003
NM_000435.3(NOTCH3):c.2589G>A (p.Ser863=) rs530503488 0.00003
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys) rs60373464 0.00003
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=) rs149222385 0.00003
NM_000435.3(NOTCH3):c.5646C>T (p.Ala1882=) rs758307531 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_002775.5(HTRA1):c.1108C>T (p.Arg370Ter) rs113993971 0.00003
NM_002775.5(HTRA1):c.820C>T (p.Arg274Trp) rs748074236 0.00003
NM_000435.3(NOTCH3):c.1375G>A (p.Ala459Thr) rs370186772 0.00002
NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu) rs770737365 0.00002
NM_000435.3(NOTCH3):c.2254G>A (p.Asp752Asn) rs377521258 0.00002
NM_000435.3(NOTCH3):c.2519G>A (p.Gly840Glu) rs771561644 0.00002
NM_000435.3(NOTCH3):c.3461-15C>T rs564737009 0.00002
NM_000435.3(NOTCH3):c.438C>T (p.Cys146=) rs774042167 0.00002
NM_000435.3(NOTCH3):c.5396G>A (p.Cys1799Tyr) rs1336048311 0.00002
NM_000435.3(NOTCH3):c.5570G>A (p.Arg1857Gln) rs200883235 0.00002
NM_000435.3(NOTCH3):c.6174G>A (p.Ser2058=) rs1304790357 0.00002
NM_002775.5(HTRA1):c.1423C>G (p.Pro475Ala) rs769157908 0.00002
NM_000435.3(NOTCH3):c.*279C>T rs2046630018 0.00001
NM_000435.3(NOTCH3):c.*608C>T rs577953923 0.00001
NM_000435.3(NOTCH3):c.-47C>G rs886054262 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.1334C>T (p.Thr445Met) rs1446147181 0.00001
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His) rs142031490 0.00001
NM_000435.3(NOTCH3):c.1522G>A (p.Val508Met) rs755398328 0.00001
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg) rs148166997 0.00001
NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys) rs1202763005 0.00001
NM_000435.3(NOTCH3):c.1595G>A (p.Arg532His) rs749628786 0.00001
NM_000435.3(NOTCH3):c.1649C>T (p.Ser550Phe) rs1210611177 0.00001
NM_000435.3(NOTCH3):c.1783G>A (p.Gly595Ser) rs770146452 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.2054C>T (p.Pro685Leu) rs768867865 0.00001
NM_000435.3(NOTCH3):c.2329C>T (p.Pro777Ser) rs886054259 0.00001
NM_000435.3(NOTCH3):c.2792+6C>T rs376329316 0.00001
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466 0.00001
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys) rs1438626607 0.00001
NM_000435.3(NOTCH3):c.3307A>G (p.Met1103Val) rs370829581 0.00001
NM_000435.3(NOTCH3):c.3327+11G>A rs777978969 0.00001
NM_000435.3(NOTCH3):c.3718+7G>A rs753987937 0.00001
NM_000435.3(NOTCH3):c.3837+11G>A rs752485887 0.00001
NM_000435.3(NOTCH3):c.415G>A (p.Asp139Asn) rs777257132 0.00001
NM_000435.3(NOTCH3):c.4444G>C (p.Gly1482Arg) rs202085803 0.00001
NM_000435.3(NOTCH3):c.4782G>C (p.Ser1594=) rs748774860 0.00001
NM_000435.3(NOTCH3):c.4974C>T (p.Leu1658=) rs749616364 0.00001
NM_000435.3(NOTCH3):c.5137C>T (p.Leu1713=) rs1339687395 0.00001
NM_000435.3(NOTCH3):c.5336G>A (p.Gly1779Asp) rs771041592 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000435.3(NOTCH3):c.5484G>A (p.Gly1828=) rs769445841 0.00001
NM_000435.3(NOTCH3):c.5501G>A (p.Arg1834Gln) rs202027632 0.00001
NM_000435.3(NOTCH3):c.5548G>A (p.Ala1850Thr) rs756939819 0.00001
NM_000435.3(NOTCH3):c.5705G>A (p.Arg1902His) rs755817475 0.00001
NM_000435.3(NOTCH3):c.5779G>A (p.Ala1927Thr) rs748889237 0.00001
NM_000435.3(NOTCH3):c.6166G>A (p.Ala2056Thr) rs556851818 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000435.3(NOTCH3):c.6217G>C (p.Gly2073Arg) rs1250159597 0.00001
NM_000435.3(NOTCH3):c.6325C>T (p.Arg2109Trp) rs199995195 0.00001
NM_000435.3(NOTCH3):c.6429A>G (p.Pro2143=) rs890365920 0.00001
NM_000435.3(NOTCH3):c.6770G>A (p.Ser2257Asn) rs779247987 0.00001
NM_000435.3(NOTCH3):c.6774C>T (p.Pro2258=) rs775043966 0.00001
NM_000435.3(NOTCH3):c.708C>T (p.Asn236=) rs766045217 0.00001
NM_002775.5(HTRA1):c.589C>T (p.Arg197Ter) rs1438223502 0.00001
NM_002775.5(HTRA1):c.590G>A (p.Arg197Gln) rs1180835237 0.00001
NM_002775.5(HTRA1):c.767T>C (p.Ile256Thr) rs201305795 0.00001
NM_002775.5(HTRA1):c.821G>A (p.Arg274Gln) rs587776445 0.00001
NM_002775.5(HTRA1):c.835G>A (p.Val279Met) rs745305935 0.00001
NM_002775.5(HTRA1):c.889G>A (p.Val297Met) rs113993969 0.00001
NM_000435.3(NOTCH3):c.*354_*355dup rs59869411
NM_000435.3(NOTCH3):c.1074C>A (p.Asn358Lys)
NM_000435.3(NOTCH3):c.1136G>A (p.Cys379Tyr)
NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) rs863225297
NM_000435.3(NOTCH3):c.1192+14C>T rs761651631
NM_000435.3(NOTCH3):c.120C>T (p.Ala40=) rs146904189
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys) rs1599391536
NM_000435.3(NOTCH3):c.1282T>A (p.Cys428Ser) rs267606915
NM_000435.3(NOTCH3):c.1303T>C (p.Cys435Arg)
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) rs762734007
NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg) rs28933698
NM_000435.3(NOTCH3):c.139A>G (p.Ser47Gly) rs775259883
NM_000435.3(NOTCH3):c.1426A>T (p.Ser476Cys) rs886054260
NM_000435.3(NOTCH3):c.1427G>A (p.Ser476Asn)
NM_000435.3(NOTCH3):c.145T>C (p.Cys49Arg) rs1555730197
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly) rs1555730197
NM_000435.3(NOTCH3):c.1478G>C (p.Cys493Ser) rs2145434878
NM_000435.3(NOTCH3):c.1492G>T (p.Gly498Cys) rs2145434841
NM_000435.3(NOTCH3):c.1531T>G (p.Cys511Gly) rs2046897246
NM_000435.3(NOTCH3):c.1547G>A (p.Cys516Tyr) rs2046897026
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
NM_000435.3(NOTCH3):c.15C>T (p.Ala5=) rs2047007824
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) rs1555730189
NM_000435.3(NOTCH3):c.1620G>T (p.Thr540=) rs75617410
NM_000435.3(NOTCH3):c.1624T>C (p.Cys542Arg) rs2145433361
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) rs1555730188
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1676G>A (p.Cys559Tyr) rs2145433195
NM_000435.3(NOTCH3):c.169C>T (p.Gln57Ter)
NM_000435.3(NOTCH3):c.1702T>C (p.Cys568Arg)
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.1759C>T (p.Arg587Cys) rs754554486
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys) rs764148985
NM_000435.3(NOTCH3):c.1790G>C (p.Cys597Ser)
NM_000435.3(NOTCH3):c.1791C>G (p.Cys597Trp)
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr) rs758997426
NM_000435.3(NOTCH3):c.187G>A (p.Ala63Thr) rs864621964
NM_000435.3(NOTCH3):c.1927T>G (p.Cys643Gly)
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.194G>T (p.Cys65Phe) rs1555730176
NM_000435.3(NOTCH3):c.1952-6C>T rs2046876259
NM_000435.3(NOTCH3):c.2082C>G (p.Pro694=) rs751758366
NM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys) rs28937321
NM_000435.3(NOTCH3):c.2142C>T (p.Gly714=) rs369579579
NM_000435.3(NOTCH3):c.2163G>A (p.Glu721=) rs375173938
NM_000435.3(NOTCH3):c.2188A>C (p.Ser730Arg)
NM_000435.3(NOTCH3):c.21CCG[4] (p.Arg13del) rs894374843
NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro) rs145069047
NM_000435.3(NOTCH3):c.231_248del (p.Gln77_Cys82del)
NM_000435.3(NOTCH3):c.2353C>T (p.Arg785Cys)
NM_000435.3(NOTCH3):c.2410+15dup rs747731340
NM_000435.3(NOTCH3):c.2410+7C>T rs766705336
NM_000435.3(NOTCH3):c.2411-1G>T rs864621966
NM_000435.3(NOTCH3):c.265G>T (p.Gly89Cys)
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys) rs1555729604
NM_000435.3(NOTCH3):c.2701T>C (p.Cys901Arg) rs2046843049
NM_000435.3(NOTCH3):c.2723T>A (p.Phe908Tyr)
NM_000435.3(NOTCH3):c.2749G>A (p.Gly917Arg) rs150338460
NM_000435.3(NOTCH3):c.2791A>T (p.Ser931Cys) rs2145423783
NM_000435.3(NOTCH3):c.2793-14T>C rs886054258
NM_000435.3(NOTCH3):c.2815T>C (p.Cys939Arg)
NM_000435.3(NOTCH3):c.2900T>C (p.Leu967Pro) rs1384597990
NM_000435.3(NOTCH3):c.2903C>A (p.Ser968Ter)
NM_000435.3(NOTCH3):c.2906G>A (p.Arg969Gln) rs146214060
NM_000435.3(NOTCH3):c.2953C>T (p.Arg985Cys) rs1188569102
NM_000435.3(NOTCH3):c.2963G>A (p.Cys988Tyr)
NM_000435.3(NOTCH3):c.298G>A (p.Gly100Ser)
NM_000435.3(NOTCH3):c.29_53del (p.Arg10fs)
NM_000435.3(NOTCH3):c.2T>A (p.Met1Lys) rs2047007942
NM_000435.3(NOTCH3):c.3009G>C (p.Trp1003Cys) rs1241704923
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.3088G>A (p.Gly1030Arg)
NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys) rs1285584068
NM_000435.3(NOTCH3):c.3172G>T (p.Gly1058Cys)
NM_000435.3(NOTCH3):c.3230C>T (p.Thr1077Ile) rs775809529
NM_000435.3(NOTCH3):c.3241T>C (p.Cys1081Arg) rs2046827455
NM_000435.3(NOTCH3):c.3256G>A (p.Asp1086Asn) rs781765705
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.341-1G>C
NM_000435.3(NOTCH3):c.3506C>A (p.Pro1169Gln) rs1160108455
NM_000435.3(NOTCH3):c.351C>G (p.Cys117Trp) rs200881673
NM_000435.3(NOTCH3):c.3536A>G (p.Asn1179Ser)
NM_000435.3(NOTCH3):c.3545G>A (p.Cys1182Tyr) rs1599380389
NM_000435.3(NOTCH3):c.3734C>G (p.Thr1245Ser) rs2046814915
NM_000435.3(NOTCH3):c.3751G>C (p.Glu1251Gln) rs369213011
NM_000435.3(NOTCH3):c.3782G>A (p.Cys1261Tyr)
NM_000435.3(NOTCH3):c.382T>C (p.Cys128Arg) rs2046934971
NM_000435.3(NOTCH3):c.386C>T (p.Ala129Val) rs1599395178
NM_000435.3(NOTCH3):c.3872G>C (p.Arg1291Pro) rs2046807438
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser) rs767150916
NM_000435.3(NOTCH3):c.3921G>C (p.Thr1307=) rs886054257
NM_000435.3(NOTCH3):c.3930G>T (p.Gly1310=) rs1459394189
NM_000435.3(NOTCH3):c.3945C>G (p.Cys1315Trp)
NM_000435.3(NOTCH3):c.3964C>T (p.Pro1322Ser) rs1438155304
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.398G>T (p.Arg133Leu) rs151016108
NM_000435.3(NOTCH3):c.4039G>C (p.Gly1347Arg) rs1344432803
NM_000435.3(NOTCH3):c.403T>C (p.Ser135Pro) rs2145442354
NM_000435.3(NOTCH3):c.4092G>A (p.Ala1364=) rs886054256
NM_000435.3(NOTCH3):c.4163C>T (p.Pro1388Leu) rs1405393607
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) rs1174625611
NM_000435.3(NOTCH3):c.4227C>T (p.Gly1409=) rs1014371988
NM_000435.3(NOTCH3):c.4298_4299delinsAT (p.Cys1433Tyr)
NM_000435.3(NOTCH3):c.431G>T (p.Cys144Phe)
NM_000435.3(NOTCH3):c.4320C>G (p.Ser1440Arg) rs776057654
NM_000435.3(NOTCH3):c.4360del (p.Asp1454fs)
NM_000435.3(NOTCH3):c.436T>G (p.Cys146Gly)
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) rs1236699193
NM_000435.3(NOTCH3):c.4426G>A (p.Ala1476Thr) rs886054255
NM_000435.3(NOTCH3):c.4427C>T (p.Ala1476Val) rs886054254
NM_000435.3(NOTCH3):c.457C>A (p.Arg153Ser)
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000435.3(NOTCH3):c.458G>A (p.Arg153His)
NM_000435.3(NOTCH3):c.463T>G (p.Cys155Gly) rs2046933681
NM_000435.3(NOTCH3):c.503G>A (p.Cys168Tyr)
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.5081G>A (p.Arg1694Gln)
NM_000435.3(NOTCH3):c.520T>C (p.Cys174Arg) rs1599394806
NM_000435.3(NOTCH3):c.521G>C (p.Cys174Ser)
NM_000435.3(NOTCH3):c.5363-5T>G rs2046683567
NM_000435.3(NOTCH3):c.5375C>T (p.Pro1792Leu) rs1250718112
NM_000435.3(NOTCH3):c.547T>A (p.Cys183Ser)
NM_000435.3(NOTCH3):c.547T>C (p.Cys183Arg) rs2145441707
NM_000435.3(NOTCH3):c.555T>G (p.Cys185Trp) rs2046932414
NM_000435.3(NOTCH3):c.565T>G (p.Tyr189Asp)
NM_000435.3(NOTCH3):c.5668-11C>T rs199850662
NM_000435.3(NOTCH3):c.5684G>A (p.Arg1895His) rs369768722
NM_000435.3(NOTCH3):c.5789C>T (p.Ala1930Val) rs886054253
NM_000435.3(NOTCH3):c.579A>C (p.Leu193=)
NM_000435.3(NOTCH3):c.580T>A (p.Cys194Ser) rs1568361818
NM_000435.3(NOTCH3):c.581G>A (p.Cys194Tyr) rs2145441541
NM_000435.3(NOTCH3):c.5913+45T>C rs4809028
NM_000435.3(NOTCH3):c.5926C>T (p.Leu1976=) rs2046645523
NM_000435.3(NOTCH3):c.593C>T (p.Ala198Val) rs140914494
NM_000435.3(NOTCH3):c.5952C>T (p.Ser1984=) rs773935272
NM_000435.3(NOTCH3):c.617G>A (p.Cys206Tyr)
NM_000435.3(NOTCH3):c.61C>T (p.Pro21Ser)
NM_000435.3(NOTCH3):c.629G>A (p.Gly210Asp)
NM_000435.3(NOTCH3):c.63G>A (p.Pro21=) rs2047007301
NM_000435.3(NOTCH3):c.6409_6410del (p.Leu2137fs)
NM_000435.3(NOTCH3):c.6506C>G (p.Pro2169Arg) rs886054252
NM_000435.3(NOTCH3):c.6620G>A (p.Arg2207Gln)
NM_000435.3(NOTCH3):c.6633C>G (p.Tyr2211Ter) rs935487877
NM_000435.3(NOTCH3):c.6681C>G (p.His2227Gln) rs1366113655
NM_000435.3(NOTCH3):c.671G>A (p.Cys224Tyr) rs1555729451
NM_000435.3(NOTCH3):c.679+15C>T rs759323108
NM_000435.3(NOTCH3):c.6904C>T (p.Gln2302Ter)
NM_000435.3(NOTCH3):c.6913A>G (p.Thr2305Ala) rs2046632682
NM_000435.3(NOTCH3):c.698G>A (p.Cys233Tyr) rs2145440883
NM_000435.3(NOTCH3):c.699T>G (p.Cys233Trp)
NM_000435.3(NOTCH3):c.714_758del (p.Asp239_Asp253del) rs864621965
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr) rs1599394351
NM_000435.3(NOTCH3):c.751T>C (p.Cys251Arg) rs1568361608
NM_000435.3(NOTCH3):c.752G>T (p.Cys251Phe) rs1555729405
NM_000435.3(NOTCH3):c.779G>T (p.Cys260Phe) rs2046928618
NM_000435.3(NOTCH3):c.849C>T (p.Asn283=)
NM_000435.3(NOTCH3):c.865G>T (p.Gly289Cys) rs1253499013
NM_000435.3(NOTCH3):c.874T>G (p.Phe292Val) rs886054261
NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe) rs1555729346
NM_000435.3(NOTCH3):c.955G>C (p.Ala319Pro) rs2046926428
NM_000435.3(NOTCH3):c.967T>A (p.Cys323Ser) rs2145439777
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) rs137852641
NM_002775.4(HTRA1):c.[126delG];[961G>A]
NM_002775.5(HTRA1):c.108G>C (p.Gly36=) rs2293870
NM_002775.5(HTRA1):c.108G>T (p.Gly36=) rs2293870
NM_002775.5(HTRA1):c.1091T>C (p.Leu364Pro) rs587776447
NM_002775.5(HTRA1):c.1127C>T (p.Ala376Val)
NM_002775.5(HTRA1):c.1156C>T (p.Arg386Ter)
NM_002775.5(HTRA1):c.126del (p.Glu42fs) rs587776448
NM_002775.5(HTRA1):c.138C>A (p.Cys46Ter) rs1394472516
NM_002775.5(HTRA1):c.175_178del (p.Arg59fs)
NM_002775.5(HTRA1):c.235C>T (p.Gln79Ter) rs2097481554
NM_002775.5(HTRA1):c.260T>G (p.Leu87Arg)
NM_002775.5(HTRA1):c.283G>T (p.Val95Leu) rs2133905276
NM_002775.5(HTRA1):c.359G>A (p.Gly120Asp) rs1554948318
NM_002775.5(HTRA1):c.496C>T (p.Arg166Cys) rs2097494390
NM_002775.5(HTRA1):c.497G>T (p.Arg166Leu) rs864622781
NM_002775.5(HTRA1):c.517G>C (p.Ala173Pro) rs781563777
NM_002775.5(HTRA1):c.536T>A (p.Ile179Asn) rs1554950655
NM_002775.5(HTRA1):c.543del (p.Ala182fs) rs1273355332
NM_002775.5(HTRA1):c.614C>G (p.Ser205Cys) rs1554950703
NM_002775.5(HTRA1):c.660C>G (p.His220Gln) rs1357930157
NM_002775.5(HTRA1):c.671del (p.Asn224fs)
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr) rs113993968
NM_002775.5(HTRA1):c.820C>G (p.Arg274Gly) rs748074236
NM_002775.5(HTRA1):c.827G>C (p.Gly276Ala) rs1554952277
NM_002775.5(HTRA1):c.852C>A (p.Ser284Arg) rs864622782
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu) rs587776446
NM_002775.5(HTRA1):c.857T>C (p.Phe286Ser)
NM_002775.5(HTRA1):c.865C>T (p.Gln289Ter) rs1554952291
NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg) rs587776873
NM_002775.5(HTRA1):c.905G>A (p.Arg302Gln) rs2133449474
NM_002775.5(HTRA1):c.910G>C (p.Gly304Arg)
NM_002775.5(HTRA1):c.971A>C (p.Asn324Thr) rs1267457680
NM_002775.5(HTRA1):c.972+1G>C rs1432594571
NM_002775.5(HTRA1):c.973-1G>A rs864622783
NM_002775.5(HTRA1):c.983C>T (p.Ser328Leu) rs2133449911
NOTCH3, ARG141CYS

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