GRCh37/hg19 1p1211.2(chr1:120524159120611245)x1


NM_024408.4(NOTCH2):c.1003T>C (p.Cys335Arg)

rs1557826752 
NM_024408.4(NOTCH2):c.1017T>C (p.Ile339=)

rs1553200135 
NM_024408.4(NOTCH2):c.1019A>G (p.Asp340Gly)

rs1557826735 
NM_024408.4(NOTCH2):c.1066C>T (p.Arg356Cys)


NM_024408.4(NOTCH2):c.1134A>G (p.Ala378=)

rs782178170 
NM_024408.4(NOTCH2):c.1228G>T (p.Ala410Ser)

rs370349228 
NM_024408.4(NOTCH2):c.1245T>C (p.Asp415=)

rs782057759 
NM_024408.4(NOTCH2):c.1280G>A (p.Cys427Tyr)

rs1557825800 
NM_024408.4(NOTCH2):c.1287T>C (p.His429=)

rs377469966 
NM_024408.4(NOTCH2):c.1465G>T (p.Val489Leu)

rs1553199690 
NM_024408.4(NOTCH2):c.1543C>G (p.Arg515Gly)


NM_024408.4(NOTCH2):c.1554C>T (p.Cys518=)

rs138817140 
NM_024408.4(NOTCH2):c.1567+8C>T

rs372367275 
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=)

rs4021006 
NM_024408.4(NOTCH2):c.1625T>G (p.Leu542Arg)

rs1557824882 
NM_024408.4(NOTCH2):c.1635A>G (p.Ala545=)


NM_024408.4(NOTCH2):c.1653G>A (p.Pro551=)

rs187731832 
NM_024408.4(NOTCH2):c.1663G>A (p.Glu555Lys)

rs1475043862 
NM_024408.4(NOTCH2):c.1791C>T (p.Pro597=)

rs781999109 
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr)

rs140311741 
NM_024408.4(NOTCH2):c.1847G>T (p.Cys616Phe)

rs1553199297 
NM_024408.4(NOTCH2):c.1856A>G (p.Asp619Gly)

rs1557824123 
NM_024408.4(NOTCH2):c.1861C>T (p.Arg621Cys)

rs781827529 
NM_024408.4(NOTCH2):c.18del (p.Ala7fs)

rs372504208 
NM_024408.4(NOTCH2):c.20274A>G

rs1553198270 
NM_024408.4(NOTCH2):c.2055G>A (p.Glu685=)

rs1557820492 
NM_024408.4(NOTCH2):c.2102T>A (p.Val701Glu)

rs1557820445 
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=)

rs782101275 
NM_024408.4(NOTCH2):c.2323C>G (p.Leu775Val)

rs1230128244 
NM_024408.4(NOTCH2):c.23669T>C


NM_024408.4(NOTCH2):c.2369A>G (p.Tyr790Cys)

rs782522898 
NM_024408.4(NOTCH2):c.2388T>A (p.Ile796=)

rs138943874 
NM_024408.4(NOTCH2):c.2452A>G (p.Thr818Ala)

rs1448849716 
NM_024408.4(NOTCH2):c.2474A>G (p.Tyr825Cys)

rs886044849 
NM_024408.4(NOTCH2):c.2578T>C (p.Leu860=)


NM_024408.4(NOTCH2):c.2584G>T (p.Ala862Ser)

rs782798700 
NM_024408.4(NOTCH2):c.2606G>A (p.Arg869Gln)

rs782269360 
NM_024408.4(NOTCH2):c.2677G>A (p.Gly893Ser)


NM_024408.4(NOTCH2):c.2719G>A (p.Asp907Asn)

rs1557817079 
NM_024408.4(NOTCH2):c.2732A>G (p.Asp911Gly)

rs1557817072 
NM_024408.4(NOTCH2):c.2752+8T>C


NM_024408.4(NOTCH2):c.2816C>T (p.Pro939Leu)


NM_024408.4(NOTCH2):c.2824A>G (p.Thr942Ala)

rs372549390 
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr)


NM_024408.4(NOTCH2):c.2949T>C (p.His983=)

rs1557814141 
NM_024408.4(NOTCH2):c.29822A>G

rs1553196358 
NM_024408.4(NOTCH2):c.3014G>A (p.Gly1005Glu)


NM_024408.4(NOTCH2):c.3036G>C (p.Leu1012Phe)

rs1553196348 
NM_024408.4(NOTCH2):c.3046G>A (p.Gly1016Ser)

rs782191722 
NM_024408.4(NOTCH2):c.3069C>T (p.Leu1023=)

rs1557813791 
NM_024408.4(NOTCH2):c.306G>A (p.Gln102=)

rs1202841553 
NM_024408.4(NOTCH2):c.3104T>C (p.Leu1035Pro)


NM_024408.4(NOTCH2):c.3154C>A (p.Pro1052Thr)

rs1417119248 
NM_024408.4(NOTCH2):c.3198C>G (p.Leu1066=)


NM_024408.4(NOTCH2):c.3205C>A (p.Arg1069=)

rs61752485 
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln)

rs146014987 
NM_024408.4(NOTCH2):c.3235G>A (p.Val1079Ile)

rs368918146 
NM_024408.4(NOTCH2):c.3252G>A (p.Glu1084=)


NM_024408.4(NOTCH2):c.3305A>G (p.Asn1102Ser)

rs781872271 
NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser)

rs782078365 
NM_024408.4(NOTCH2):c.3467A>G (p.Asn1156Ser)


NM_024408.4(NOTCH2):c.3492C>T (p.Cys1164=)


NM_024408.4(NOTCH2):c.3520G>A (p.Glu1174Lys)

rs782318679 
NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn)


NM_024408.4(NOTCH2):c.358A>C (p.Thr120Pro)

rs148915663 
NM_024408.4(NOTCH2):c.3657C>A (p.Gly1219=)

rs797044688 
NM_024408.4(NOTCH2):c.3670G>A (p.Glu1224Lys)

rs886044885 
NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr)

rs797044475 
NM_024408.4(NOTCH2):c.3702T>C (p.His1234=)


NM_024408.4(NOTCH2):c.3706C>T (p.Leu1236Phe)

rs782493421 
NM_024408.4(NOTCH2):c.3754T>A (p.Cys1252Ser)

rs1553194817 
NM_024408.4(NOTCH2):c.3759G>A (p.Leu1253=)

rs143045192 
NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=)

rs149036937 
NM_024408.4(NOTCH2):c.3878G>A (p.Arg1293His)

rs201968231 
NM_024408.4(NOTCH2):c.3908C>G (p.Thr1303Ser)

rs1359085444 
NM_024408.4(NOTCH2):c.390G>A (p.Glu130=)

rs782723019 
NM_024408.4(NOTCH2):c.3916G>A (p.Asp1306Asn)


NM_024408.4(NOTCH2):c.3934C>T (p.Pro1312Ser)

rs1557807220 
NM_024408.4(NOTCH2):c.3984T>C (p.Gly1328=)


NM_024408.4(NOTCH2):c.4002C>G (p.Pro1334=)

rs1390174762 
NM_024408.4(NOTCH2):c.4005+9C>T

rs886043601 
NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=)


NM_024408.4(NOTCH2):c.4029G>C (p.Gln1343His)

rs1299994808 
NM_024408.4(NOTCH2):c.4041A>G (p.Gly1347=)

rs753043164 
NM_024408.4(NOTCH2):c.4130G>T (p.Gly1377Val)

rs758311065 
NM_024408.4(NOTCH2):c.4142G>A (p.Ser1381Asn)

rs886044453 
NM_024408.4(NOTCH2):c.415G>C (p.Gly139Arg)

rs1131692007 
NM_024408.4(NOTCH2):c.4162A>G (p.Ser1388Gly)

rs1557806739 
NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg)


NM_024408.4(NOTCH2):c.4177C>T (p.Arg1393Cys)

rs760072707 
NM_024408.4(NOTCH2):c.4178G>A (p.Arg1393His)

rs587735797 
NM_024408.4(NOTCH2):c.4185T>A (p.Pro1395=)

rs1553194472 
NM_024408.4(NOTCH2):c.423G>A (p.Glu141=)

rs149906722 
NM_024408.4(NOTCH2):c.4244C>T (p.Thr1415Met)

rs758275919 
NM_024408.4(NOTCH2):c.4294G>A (p.Asp1432Asn)


NM_024408.4(NOTCH2):c.4312G>A (p.Val1438Ile)

rs745861610 
NM_024408.4(NOTCH2):c.4394A>G (p.Asn1465Ser)

rs886044112 
NM_024408.4(NOTCH2):c.4462G>C (p.Glu1488Gln)

rs1131691315 
NM_024408.4(NOTCH2):c.45129C>T


NM_024408.4(NOTCH2):c.4578G>A (p.Glu1526=)


NM_024408.4(NOTCH2):c.4639C>G (p.Leu1547Val)

rs1241715192 
NM_024408.4(NOTCH2):c.4699C>T (p.Arg1567Trp)

rs552225415 
NM_024408.4(NOTCH2):c.4723A>G (p.Thr1575Ala)

rs769788569 
NM_024408.4(NOTCH2):c.4733G>A (p.Arg1578His)


NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=)

rs367699419 
NM_024408.4(NOTCH2):c.48603C>T


NM_024408.4(NOTCH2):c.4928C>T (p.Thr1643Met)

rs891328437 
NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=)

rs587697719 
NM_024408.4(NOTCH2):c.4938A>G (p.Ala1646=)

rs886042285 
NM_024408.4(NOTCH2):c.4945C>T (p.Leu1649Phe)


NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile)


NM_024408.4(NOTCH2):c.4992G>A (p.Val1664=)


NM_024408.4(NOTCH2):c.5074A>G (p.Ile1692Val)


NM_024408.4(NOTCH2):c.5103A>G (p.Lys1701=)

rs201233415 
NM_024408.4(NOTCH2):c.5123C>T (p.Ser1708Phe)

rs761415665 
NM_024408.4(NOTCH2):c.5153G>A (p.Arg1718His)

rs774915799 
NM_024408.4(NOTCH2):c.5156G>A (p.Arg1719Gln)

rs587737953 
NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr)

rs115013051 
NM_024408.4(NOTCH2):c.5172C>G (p.His1724Gln)

rs1557804894 
NM_024408.4(NOTCH2):c.5177G>A (p.Arg1726His)

rs1557804884 
NM_024408.4(NOTCH2):c.521410A>G

rs761995764 
NM_024408.4(NOTCH2):c.5218C>A (p.Leu1740Ile)

rs747138507 
NM_024408.4(NOTCH2):c.5310+5G>A

rs1557804679 
NM_024408.4(NOTCH2):c.5314G>A (p.Glu1772Lys)

rs587778576 
NM_024408.4(NOTCH2):c.5329C>T (p.Leu1777Phe)

rs886044556 
NM_024408.4(NOTCH2):c.5348C>G (p.Pro1783Arg)


NM_024408.4(NOTCH2):c.5362C>G (p.Pro1788Ala)

rs1557804176 
NM_024408.4(NOTCH2):c.5407C>T (p.Pro1803Ser)

rs1557804130 
NM_024408.4(NOTCH2):c.5413C>T (p.Leu1805=)

rs886042822 
NM_024408.4(NOTCH2):c.54807C>T

rs368724241 
NM_024408.4(NOTCH2):c.5518G>A (p.Gly1840Ser)

rs1064796810 
NM_024408.4(NOTCH2):c.5630G>T (p.Gly1877Val)

rs1557803723 
NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys)

rs748716440 
NM_024408.4(NOTCH2):c.5732G>A (p.Arg1911His)

rs1216790064 
NM_024408.4(NOTCH2):c.5740C>T (p.Leu1914Phe)

rs1557803661 
NM_024408.4(NOTCH2):c.5781+10A>C

rs369586235 
NM_024408.4(NOTCH2):c.578210C>T

rs1220746088 
NM_024408.4(NOTCH2):c.5815G>T (p.Ala1939Ser)

rs373667418 
NM_024408.4(NOTCH2):c.5834C>T (p.Thr1945Ile)

rs1553193826 
NM_024408.4(NOTCH2):c.5857C>T (p.Arg1953Cys)

rs312262796 
NM_024408.4(NOTCH2):c.5858G>A (p.Arg1953His)

rs312262797 
NM_024408.4(NOTCH2):c.5862G>A (p.Leu1954=)


NM_024408.4(NOTCH2):c.5871G>A (p.Glu1957=)

rs587718458 
NM_024408.4(NOTCH2):c.5958T>C (p.Ala1986=)

rs563486507 
NM_024408.4(NOTCH2):c.5959G>T (p.Val1987Phe)

rs1553193743 
NM_024408.4(NOTCH2):c.5977A>G (p.Thr1993Ala)

rs779769077 
NM_024408.4(NOTCH2):c.6004A>G (p.Asn2002Asp)


NM_024408.4(NOTCH2):c.6026A>G (p.Lys2009Arg)

rs1557802966 
NM_024408.4(NOTCH2):c.6027+10G>T

rs774867522 
NM_024408.4(NOTCH2):c.6027G>A (p.Lys2009=)

rs1557802955 
NM_024408.4(NOTCH2):c.60284G>A

rs372465730 
NM_024408.4(NOTCH2):c.6042G>C (p.Leu2014=)


NM_024408.4(NOTCH2):c.6052G>T (p.Ala2018Ser)

rs886044278 
NM_024408.4(NOTCH2):c.6056G>A (p.Arg2019Gln)

rs201446896 
NM_024408.4(NOTCH2):c.6103A>C (p.Asn2035His)

rs745697811 
NM_024408.4(NOTCH2):c.6104A>G (p.Asn2035Ser)

rs756949183 
NM_024408.4(NOTCH2):c.6118G>A (p.Asp2040Asn)

rs748876258 
NM_024408.4(NOTCH2):c.6124A>G (p.Met2042Val)

rs1244625283 
NM_024408.4(NOTCH2):c.6139C>G (p.Arg2047Gly)


NM_024408.4(NOTCH2):c.6140G>A (p.Arg2047Gln)


NM_024408.4(NOTCH2):c.6152G>A (p.Arg2051Gln)

rs192122939 
NM_024408.4(NOTCH2):c.6152G>C (p.Arg2051Pro)


NM_024408.4(NOTCH2):c.6159C>T (p.Arg2053=)

rs143282787 
NM_024408.4(NOTCH2):c.6182T>C (p.Leu2061Pro)

rs1553193616 
NM_024408.4(NOTCH2):c.6222C>T (p.Thr2074=)


NM_024408.4(NOTCH2):c.6251T>A (p.Ile2084Asn)

rs757880322 
NM_024408.4(NOTCH2):c.6270T>G (p.Ser2090=)


NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr)


NM_024408.4(NOTCH2):c.6338C>T (p.Pro2113Leu)

rs767621140 
NM_024408.4(NOTCH2):c.6344G>A (p.Ser2115Asn)

rs1557802288 
NM_024408.4(NOTCH2):c.6345C>T (p.Ser2115=)


NM_024408.4(NOTCH2):c.6362A>G (p.Lys2121Arg)

rs148393324 
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn)

rs144047610 
NM_024408.4(NOTCH2):c.6412A>G (p.Lys2138Glu)


NM_024408.4(NOTCH2):c.6464A>C (p.Glu2155Ala)

rs886043600 
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=)

rs145566650 
NM_024408.4(NOTCH2):c.6481G>A (p.Val2161Ile)

rs1470762283 
NM_024408.4(NOTCH2):c.6496T>C (p.Ser2166Pro)

rs886042848 
NM_024408.4(NOTCH2):c.6547A>G (p.Met2183Val)


NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr)


NM_024408.4(NOTCH2):c.6673C>T (p.Leu2225=)

rs1314464356 
NM_024408.4(NOTCH2):c.6685C>T (p.His2229Tyr)

rs1557802029 
NM_024408.4(NOTCH2):c.6703A>G (p.Ser2235Gly)

rs886044626 
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys)

rs147522485 
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His)

rs148759277 
NM_024408.4(NOTCH2):c.6808A>G (p.Met2270Val)

rs145628676 
NM_024408.4(NOTCH2):c.6837T>A (p.His2279Gln)

rs886044699 
NM_024408.4(NOTCH2):c.6837T>C (p.His2279=)

rs886044699 
NM_024408.4(NOTCH2):c.6859A>T (p.Arg2287Trp)

rs1430185090 
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln)

rs140832430 
NM_024408.4(NOTCH2):c.6921C>T (p.Phe2307=)

rs886043678 
NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val)

rs373527990 
NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=)

rs369891453 
NM_024408.4(NOTCH2):c.6962C>T (p.Ala2321Val)

rs1177513541 
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala)

rs587778578 
NM_024408.4(NOTCH2):c.6985C>T (p.Pro2329Ser)

rs1278379367 
NM_024408.4(NOTCH2):c.6997G>A (p.Ala2333Thr)

rs143506822 
NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=)

rs760004891 
NM_024408.4(NOTCH2):c.7072A>G (p.Met2358Val)


NM_024408.4(NOTCH2):c.7174T>C (p.Tyr2392His)

rs778456880 
NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln)

rs587654671 
NM_024408.4(NOTCH2):c.7224C>G (p.Leu2408=)

rs147795348 
NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=)

rs369912969 
NM_024408.4(NOTCH2):c.7288C>T (p.Pro2430Ser)


NM_024408.4(NOTCH2):c.7338G>A (p.Gly2446=)


NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser)


NM_024408.4(NOTCH2):c.7356G>C (p.Gln2452His)

rs1352825600 
NM_024408.4(NOTCH2):c.7368G>A (p.Gly2456=)

rs759456867 
NM_024408.4(NOTCH2):c.7391_7393ACA[2] (p.Asn2466del)

rs1288820640 
NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=)

rs771638958 
NM_024408.4(NOTCH2):c.7416A>C (p.Ter2472Cys)

rs1276272666 
NM_024408.4(NOTCH2):c.75212_75210del

rs1557834122 
NM_024408.4(NOTCH2):c.760G>T (p.Gly254Trp)

rs1553202314 
NM_024408.4(NOTCH2):c.782T>G (p.Ile261Ser)

rs1202374604 
NM_024408.4(NOTCH2):c.786T>C (p.Asp262=)


NM_024408.4(NOTCH2):c.815G>A (p.Gly272Glu)

rs1557834076 
NM_024408.4(NOTCH2):c.822T>G (p.Val274=)


NM_024408.4(NOTCH2):c.8759C>G

rs1324363153 
NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser)

rs144936899 
NM_024408.4(NOTCH2):c.965A>G (p.Tyr322Cys)

rs1557826779 
NM_024408.4(NOTCH2):c.975A>G (p.Val325=)

rs886044854 