ClinVar Miner

List of variants reported as uncertain significance for Acroosteolysis dominant type

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 578
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987 0.00017
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln) rs140832430 0.00016
NM_024408.4(NOTCH2):c.2824A>G (p.Thr942Ala) rs372549390 0.00014
NM_024408.4(NOTCH2):c.3014G>A (p.Gly1005Glu) rs782036233 0.00014
NM_024408.4(NOTCH2):c.1228G>T (p.Ala410Ser) rs370349228 0.00013
NM_024408.4(NOTCH2):c.5815G>T (p.Ala1939Ser) rs373667418 0.00013
NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp) rs587778575 0.00011
NM_024408.4(NOTCH2):c.3916G>A (p.Asp1306Asn) rs116408209 0.00010
NM_024408.4(NOTCH2):c.3995G>A (p.Arg1332His) rs587609362 0.00010
NM_024408.4(NOTCH2):c.2785G>A (p.Gly929Arg) rs199585130 0.00009
NM_024408.4(NOTCH2):c.3878G>A (p.Arg1293His) rs201968231 0.00009
NM_024408.4(NOTCH2):c.7190C>G (p.Ala2397Gly) rs143197714 0.00009
NM_024408.4(NOTCH2):c.3143G>A (p.Arg1048His) rs142831890 0.00007
NM_024408.4(NOTCH2):c.4860-3C>T rs752354633 0.00007
NM_024408.4(NOTCH2):c.4922A>C (p.Lys1641Thr) rs148354054 0.00007
NM_024408.4(NOTCH2):c.3305A>G (p.Asn1102Ser) rs781872271 0.00006
NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg) rs373035180 0.00006
NM_024408.4(NOTCH2):c.4229G>A (p.Arg1410His) rs202022988 0.00006
NM_024408.4(NOTCH2):c.6152G>A (p.Arg2051Gln) rs192122939 0.00006
NM_024408.4(NOTCH2):c.881T>A (p.Phe294Tyr) rs369664394 0.00006
NM_024408.4(NOTCH2):c.4699C>T (p.Arg1567Trp) rs552225415 0.00005
NM_024408.4(NOTCH2):c.4820G>A (p.Arg1607His) rs372710038 0.00005
NM_024408.4(NOTCH2):c.6338C>T (p.Pro2113Leu) rs767621140 0.00005
NM_024408.4(NOTCH2):c.6868G>A (p.Glu2290Lys) rs141878560 0.00005
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala) rs587778578 0.00005
NM_024408.4(NOTCH2):c.2192A>G (p.His731Arg) rs782070613 0.00004
NM_024408.4(NOTCH2):c.2647A>G (p.Met883Val) rs145079718 0.00004
NM_024408.4(NOTCH2):c.4142G>A (p.Ser1381Asn) rs886044453 0.00004
NM_024408.4(NOTCH2):c.4294G>A (p.Asp1432Asn) rs145336945 0.00004
NM_024408.4(NOTCH2):c.5398C>T (p.Arg1800Cys) rs1450649026 0.00004
NM_024408.4(NOTCH2):c.5423C>T (p.Thr1808Ile) rs144085962 0.00004
NM_024408.4(NOTCH2):c.5624G>A (p.Arg1875Gln) rs148613210 0.00004
NM_024408.4(NOTCH2):c.5977A>G (p.Thr1993Ala) rs779769077 0.00004
NM_024408.4(NOTCH2):c.6056G>A (p.Arg2019Gln) rs201446896 0.00004
NM_024408.4(NOTCH2):c.6313C>T (p.Arg2105Trp) rs372538600 0.00004
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His) rs148759277 0.00004
NM_024408.4(NOTCH2):c.7040G>A (p.Arg2347His) rs201993620 0.00004
NM_024408.4(NOTCH2):c.7288C>T (p.Pro2430Ser) rs141961602 0.00004
NM_024408.4(NOTCH2):c.875-9C>G rs1324363153 0.00004
NM_024408.4(NOTCH2):c.2642C>T (p.Pro881Leu) rs782728045 0.00003
NM_024408.4(NOTCH2):c.3430A>G (p.Ser1144Gly) rs143866883 0.00003
NM_024408.4(NOTCH2):c.3467A>G (p.Asn1156Ser) rs782760871 0.00003
NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn) rs377058108 0.00003
NM_024408.4(NOTCH2):c.3652C>T (p.Arg1218Trp) rs587641573 0.00003
NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=) rs118188023 0.00003
NM_024408.4(NOTCH2):c.4270A>G (p.Thr1424Ala) rs760325217 0.00003
NM_024408.4(NOTCH2):c.4688G>A (p.Arg1563His) rs767706572 0.00003
NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His) rs201996575 0.00003
NM_024408.4(NOTCH2):c.6343A>G (p.Ser2115Gly) rs34891988 0.00003
NM_024408.4(NOTCH2):c.6547A>G (p.Met2183Val) rs748538625 0.00003
NM_024408.4(NOTCH2):c.6808A>G (p.Met2270Val) rs145628676 0.00003
NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val) rs373527990 0.00003
NM_024408.4(NOTCH2):c.6985C>T (p.Pro2329Ser) rs1278379367 0.00003
NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=) rs760004891 0.00003
NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser) rs764210725 0.00003
NM_024408.4(NOTCH2):c.7377G>A (p.Met2459Ile) rs139658777 0.00003
NM_024408.4(NOTCH2):c.1015A>G (p.Ile339Val) rs1309062791 0.00002
NM_024408.4(NOTCH2):c.1194A>G (p.Gln398=) rs782486742 0.00002
NM_024408.4(NOTCH2):c.2501T>G (p.Leu834Trp) rs376526633 0.00002
NM_024408.4(NOTCH2):c.2606G>A (p.Arg869Gln) rs782269360 0.00002
NM_024408.4(NOTCH2):c.2636C>T (p.Ser879Phe) rs1004494435 0.00002
NM_024408.4(NOTCH2):c.3046G>A (p.Gly1016Ser) rs782191722 0.00002
NM_024408.4(NOTCH2):c.3298G>A (p.Val1100Met) rs782536553 0.00002
NM_024408.4(NOTCH2):c.3461C>T (p.Ala1154Val) rs367562640 0.00002
NM_024408.4(NOTCH2):c.4093C>T (p.Arg1365Cys) rs987757552 0.00002
NM_024408.4(NOTCH2):c.4303C>T (p.Arg1435Trp) rs777091426 0.00002
NM_024408.4(NOTCH2):c.4454A>G (p.Asn1485Ser) rs771682706 0.00002
NM_024408.4(NOTCH2):c.4639C>G (p.Leu1547Val) rs1241715192 0.00002
NM_024408.4(NOTCH2):c.5156G>A (p.Arg1719Gln) rs587737953 0.00002
NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys) rs748716440 0.00002
NM_024408.4(NOTCH2):c.6004A>G (p.Asn2002Asp) rs761367735 0.00002
NM_024408.4(NOTCH2):c.6008G>A (p.Arg2003Gln) rs142978073 0.00002
NM_024408.4(NOTCH2):c.6178C>T (p.Arg2060Cys) rs746551843 0.00002
NM_024408.4(NOTCH2):c.6331A>G (p.Thr2111Ala) rs752915446 0.00002
NM_024408.4(NOTCH2):c.6481G>A (p.Val2161Ile) rs1470762283 0.00002
NM_024408.4(NOTCH2):c.6878A>C (p.His2293Pro) rs780904023 0.00002
NM_024408.4(NOTCH2):c.6898C>T (p.Pro2300Ser) rs765911576 0.00002
NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter) rs1174406807 0.00002
NM_024408.4(NOTCH2):c.1517A>G (p.Asn506Ser) rs73004269 0.00001
NM_024408.4(NOTCH2):c.1978A>G (p.Met660Val) rs1447605154 0.00001
NM_024408.4(NOTCH2):c.2142C>G (p.His714Gln) rs1553198250 0.00001
NM_024408.4(NOTCH2):c.2323C>G (p.Leu775Val) rs1230128244 0.00001
NM_024408.4(NOTCH2):c.2369A>G (p.Tyr790Cys) rs782522898 0.00001
NM_024408.4(NOTCH2):c.2381T>C (p.Val794Ala) rs782132637 0.00001
NM_024408.4(NOTCH2):c.2440A>G (p.Ile814Val) rs782757612 0.00001
NM_024408.4(NOTCH2):c.2780T>G (p.Met927Arg) rs782079844 0.00001
NM_024408.4(NOTCH2):c.2915C>T (p.Thr972Ile) rs1650065665 0.00001
NM_024408.4(NOTCH2):c.2948A>G (p.His983Arg) rs1403687128 0.00001
NM_024408.4(NOTCH2):c.2982-3T>C rs1553196359 0.00001
NM_024408.4(NOTCH2):c.2993A>G (p.Asn998Ser) rs782277113 0.00001
NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser) rs782078365 0.00001
NM_024408.4(NOTCH2):c.3406C>G (p.Gln1136Glu) rs1553195867 0.00001
NM_024408.4(NOTCH2):c.3466A>G (p.Asn1156Asp) rs1649892979 0.00001
NM_024408.4(NOTCH2):c.3520G>A (p.Glu1174Lys) rs782318679 0.00001
NM_024408.4(NOTCH2):c.3653G>A (p.Arg1218Gln) rs138122751 0.00001
NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr) rs797044475 0.00001
NM_024408.4(NOTCH2):c.3701A>G (p.His1234Arg) rs782254462 0.00001
NM_024408.4(NOTCH2):c.3895C>T (p.Arg1299Trp) rs371580595 0.00001
NM_024408.4(NOTCH2):c.3908C>G (p.Thr1303Ser) rs1359085444 0.00001
NM_024408.4(NOTCH2):c.4145C>A (p.Pro1382His) rs1418033447 0.00001
NM_024408.4(NOTCH2):c.4177C>T (p.Arg1393Cys) rs760072707 0.00001
NM_024408.4(NOTCH2):c.4244C>T (p.Thr1415Met) rs758275919 0.00001
NM_024408.4(NOTCH2):c.4372A>G (p.Thr1458Ala) rs1388647498 0.00001
NM_024408.4(NOTCH2):c.4733G>A (p.Arg1578His) rs751299682 0.00001
NM_024408.4(NOTCH2):c.4741C>T (p.Arg1581Trp) rs779822957 0.00001
NM_024408.4(NOTCH2):c.4778A>G (p.Tyr1593Cys) rs587743026 0.00001
NM_024408.4(NOTCH2):c.4928C>T (p.Thr1643Met) rs891328437 0.00001
NM_024408.4(NOTCH2):c.4964T>C (p.Ile1655Thr) rs1475486687 0.00001
NM_024408.4(NOTCH2):c.5105G>A (p.Arg1702Gln) rs999822357 0.00001
NM_024408.4(NOTCH2):c.5153G>A (p.Arg1718His) rs774915799 0.00001
NM_024408.4(NOTCH2):c.5214-10A>G rs761995764 0.00001
NM_024408.4(NOTCH2):c.5862G>A (p.Leu1954=) rs746117178 0.00001
NM_024408.4(NOTCH2):c.6052G>T (p.Ala2018Ser) rs886044278 0.00001
NM_024408.4(NOTCH2):c.6079A>G (p.Lys2027Glu) rs1283460236 0.00001
NM_024408.4(NOTCH2):c.6160A>G (p.Met2054Val) rs774262327 0.00001
NM_024408.4(NOTCH2):c.6251T>A (p.Ile2084Asn) rs757880322 0.00001
NM_024408.4(NOTCH2):c.6264C>A (p.Asn2088Lys) rs769574168 0.00001
NM_024408.4(NOTCH2):c.6310A>G (p.Arg2104Gly) rs757743077 0.00001
NM_024408.4(NOTCH2):c.6334A>G (p.Met2112Val) rs1237418902 0.00001
NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr) rs139052054 0.00001
NM_024408.4(NOTCH2):c.6607A>C (p.Asn2203His) rs773806339 0.00001
NM_024408.4(NOTCH2):c.686C>A (p.Pro229His) rs781850215 0.00001
NM_024408.4(NOTCH2):c.6904C>G (p.Pro2302Ala) rs764669567 0.00001
NM_024408.4(NOTCH2):c.6908C>A (p.Pro2303His) rs1443569299 0.00001
NM_024408.4(NOTCH2):c.6911T>C (p.Ile2304Thr) rs1370844431 0.00001
NM_024408.4(NOTCH2):c.6982T>C (p.Cys2328Arg) rs757922369 0.00001
NM_024408.4(NOTCH2):c.7016T>C (p.Met2339Thr) rs766624616 0.00001
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter) rs1325403451 0.00001
NM_024408.4(NOTCH2):c.7358G>A (p.Arg2453Gln) rs145366664 0.00001
NM_024408.4(NOTCH2):c.760G>T (p.Gly254Trp) rs1553202314 0.00001
NM_024408.4(NOTCH2):c.822T>G (p.Val274=) rs782642000 0.00001
NC_000001.10:g.(?_119427355)_(120529725_?)dup
NC_000001.10:g.(?_120496146)_(120497875_?)del
NM_024408.4(NOTCH2):c.1004G>A (p.Cys335Tyr)
NM_024408.4(NOTCH2):c.1006A>G (p.Ser336Gly)
NM_024408.4(NOTCH2):c.1016T>C (p.Ile339Thr)
NM_024408.4(NOTCH2):c.1027G>C (p.Ala343Pro)
NM_024408.4(NOTCH2):c.1029C>T (p.Ala343=)
NM_024408.4(NOTCH2):c.1033G>A (p.Ala345Thr)
NM_024408.4(NOTCH2):c.1076C>G (p.Ser359Cys)
NM_024408.4(NOTCH2):c.1105G>T (p.Ala369Ser)
NM_024408.4(NOTCH2):c.1108+5G>A
NM_024408.4(NOTCH2):c.1130A>T (p.Asp377Val)
NM_024408.4(NOTCH2):c.1138A>G (p.Ile380Val)
NM_024408.4(NOTCH2):c.1145A>G (p.Asn382Ser)
NM_024408.4(NOTCH2):c.1213C>G (p.Gln405Glu)
NM_024408.4(NOTCH2):c.1264+3G>A
NM_024408.4(NOTCH2):c.1265-6T>G
NM_024408.4(NOTCH2):c.1271G>A (p.Ser424Asn)
NM_024408.4(NOTCH2):c.1280G>A (p.Cys427Tyr) rs1557825800
NM_024408.4(NOTCH2):c.1307C>T (p.Thr436Met)
NM_024408.4(NOTCH2):c.1373A>G (p.Asn458Ser)
NM_024408.4(NOTCH2):c.1387G>C (p.Asp463His)
NM_024408.4(NOTCH2):c.1397A>G (p.Gln466Arg)
NM_024408.4(NOTCH2):c.1426G>A (p.Gly476Arg)
NM_024408.4(NOTCH2):c.1465G>A (p.Val489Met)
NM_024408.4(NOTCH2):c.1500C>A (p.Ser500Arg)
NM_024408.4(NOTCH2):c.1500C>G (p.Ser500Arg)
NM_024408.4(NOTCH2):c.1534A>G (p.Lys512Glu) rs2101141596
NM_024408.4(NOTCH2):c.1543C>T (p.Arg515Cys)
NM_024408.4(NOTCH2):c.1544G>A (p.Arg515His)
NM_024408.4(NOTCH2):c.1550A>G (p.Gln517Arg)
NM_024408.4(NOTCH2):c.1562C>G (p.Pro521Arg)
NM_024408.4(NOTCH2):c.1591A>G (p.Ile531Val)
NM_024408.4(NOTCH2):c.1598T>C (p.Ile533Thr)
NM_024408.4(NOTCH2):c.1605C>G (p.Asp535Glu)
NM_024408.4(NOTCH2):c.1615A>G (p.Thr539Ala)
NM_024408.4(NOTCH2):c.1616C>T (p.Thr539Ile)
NM_024408.4(NOTCH2):c.1640G>A (p.Cys547Tyr)
NM_024408.4(NOTCH2):c.1642A>G (p.Ile548Val)
NM_024408.4(NOTCH2):c.1650C>A (p.His550Gln)
NM_024408.4(NOTCH2):c.1661A>G (p.Tyr554Cys)
NM_024408.4(NOTCH2):c.1670A>G (p.Gln557Arg)
NM_024408.4(NOTCH2):c.1681+13_1681+14delinsCA
NM_024408.4(NOTCH2):c.1681+16_1681+29del
NM_024408.4(NOTCH2):c.1688C>A (p.Thr563Asn)
NM_024408.4(NOTCH2):c.1698G>T (p.Leu566Phe)
NM_024408.4(NOTCH2):c.1709A>T (p.Asn570Ile)
NM_024408.4(NOTCH2):c.1775C>A (p.Thr592Asn) rs1651030166
NM_024408.4(NOTCH2):c.1777T>C (p.Cys593Arg)
NM_024408.4(NOTCH2):c.1782C>G (p.Ile594Met)
NM_024408.4(NOTCH2):c.1787A>G (p.Asn596Ser)
NM_024408.4(NOTCH2):c.1798A>G (p.Met600Val)
NM_024408.4(NOTCH2):c.1817A>T (p.Asp606Val)
NM_024408.4(NOTCH2):c.1823T>C (p.Ile608Thr)
NM_024408.4(NOTCH2):c.1823T>G (p.Ile608Ser)
NM_024408.4(NOTCH2):c.1834T>C (p.Tyr612His)
NM_024408.4(NOTCH2):c.1880A>G (p.Asn627Ser)
NM_024408.4(NOTCH2):c.1915+2dup rs1570696957
NM_024408.4(NOTCH2):c.1918G>A (p.Val640Ile)
NM_024408.4(NOTCH2):c.1939G>A (p.Asp647Asn)
NM_024408.4(NOTCH2):c.1946G>T (p.Cys649Phe)
NM_024408.4(NOTCH2):c.1955A>T (p.Asn652Ile) rs1411949035
NM_024408.4(NOTCH2):c.1957C>A (p.Pro653Thr) rs1553198769
NM_024408.4(NOTCH2):c.1967A>G (p.His656Arg)
NM_024408.4(NOTCH2):c.1993C>T (p.Arg665Cys)
NM_024408.4(NOTCH2):c.1994G>A (p.Arg665His)
NM_024408.4(NOTCH2):c.2026+6G>A rs587731563
NM_024408.4(NOTCH2):c.2026+6G>C rs587731563
NM_024408.4(NOTCH2):c.2026G>C (p.Gly676Arg)
NM_024408.4(NOTCH2):c.2063C>T (p.Ser688Phe)
NM_024408.4(NOTCH2):c.2066A>G (p.Asn689Ser)
NM_024408.4(NOTCH2):c.2080G>C (p.Gly694Arg)
NM_024408.4(NOTCH2):c.2099G>T (p.Gly700Val)
NM_024408.4(NOTCH2):c.2108G>T (p.Gly703Val)
NM_024408.4(NOTCH2):c.2113C>T (p.Arg705Cys)
NM_024408.4(NOTCH2):c.2114G>A (p.Arg705His)
NM_024408.4(NOTCH2):c.2119A>T (p.Ile707Leu)
NM_024408.4(NOTCH2):c.2126C>T (p.Pro709Leu)
NM_024408.4(NOTCH2):c.2128G>A (p.Glu710Lys)
NM_024408.4(NOTCH2):c.2132G>A (p.Gly711Glu)
NM_024408.4(NOTCH2):c.2155T>A (p.Ser719Thr)
NM_024408.4(NOTCH2):c.2166C>A (p.Asn722Lys) rs1046818561
NM_024408.4(NOTCH2):c.2167G>A (p.Glu723Lys)
NM_024408.4(NOTCH2):c.2188A>G (p.Ile730Val)
NM_024408.4(NOTCH2):c.2213T>C (p.Leu738Pro)
NM_024408.4(NOTCH2):c.2219+5G>A
NM_024408.4(NOTCH2):c.2222A>C (p.Tyr741Ser)
NM_024408.4(NOTCH2):c.2222A>G (p.Tyr741Cys)
NM_024408.4(NOTCH2):c.2225A>G (p.Lys742Arg)
NM_024408.4(NOTCH2):c.2239G>A (p.Ala747Thr) rs782424159
NM_024408.4(NOTCH2):c.2243G>A (p.Gly748Asp)
NM_024408.4(NOTCH2):c.2267T>A (p.Val756Glu)
NM_024408.4(NOTCH2):c.2269G>C (p.Asp757His)
NM_024408.4(NOTCH2):c.2273A>G (p.Lys758Arg)
NM_024408.4(NOTCH2):c.2274A>C (p.Lys758Asn)
NM_024408.4(NOTCH2):c.2279A>G (p.Glu760Gly)
NM_024408.4(NOTCH2):c.2292T>A (p.Asn764Lys)
NM_024408.4(NOTCH2):c.2294C>T (p.Pro765Leu)
NM_024408.4(NOTCH2):c.2321A>G (p.Asn774Ser)
NM_024408.4(NOTCH2):c.2338A>G (p.Arg780Gly)
NM_024408.4(NOTCH2):c.2339G>T (p.Arg780Met) rs2101122186
NM_024408.4(NOTCH2):c.2352G>T (p.Lys784Asn) rs782553837
NM_024408.4(NOTCH2):c.2353A>C (p.Lys785Gln)
NM_024408.4(NOTCH2):c.2365+17A>G
NM_024408.4(NOTCH2):c.2379G>C (p.Gln793His)
NM_024408.4(NOTCH2):c.2380G>A (p.Val794Met)
NM_024408.4(NOTCH2):c.2439C>G (p.Asp813Glu)
NM_024408.4(NOTCH2):c.2518A>G (p.Asn840Asp) rs1553197408
NM_024408.4(NOTCH2):c.2520C>A (p.Asn840Lys)
NM_024408.4(NOTCH2):c.2527G>A (p.Glu843Lys)
NM_024408.4(NOTCH2):c.2557A>G (p.Asn853Asp)
NM_024408.4(NOTCH2):c.2560T>C (p.Phe854Leu) rs1650363387
NM_024408.4(NOTCH2):c.2584G>T (p.Ala862Ser) rs782798700
NM_024408.4(NOTCH2):c.2588C>T (p.Pro863Leu) rs2101115530
NM_024408.4(NOTCH2):c.2594G>T (p.Trp865Leu)
NM_024408.4(NOTCH2):c.2600-3T>C
NM_024408.4(NOTCH2):c.2602C>G (p.Gln868Glu) rs2101114714
NM_024408.4(NOTCH2):c.2641C>A (p.Pro881Thr)
NM_024408.4(NOTCH2):c.2666A>G (p.His889Arg)
NM_024408.4(NOTCH2):c.2677G>A (p.Gly893Ser) rs782108690
NM_024408.4(NOTCH2):c.2686A>C (p.Met896Leu)
NM_024408.4(NOTCH2):c.2699C>T (p.Pro900Leu) rs2101114444
NM_024408.4(NOTCH2):c.2701C>A (p.Pro901Thr)
NM_024408.4(NOTCH2):c.2731G>A (p.Asp911Asn)
NM_024408.4(NOTCH2):c.2738A>C (p.Asp913Ala)
NM_024408.4(NOTCH2):c.2753-8T>A
NM_024408.4(NOTCH2):c.2762A>G (p.Gln921Arg)
NM_024408.4(NOTCH2):c.2779A>G (p.Met927Val)
NM_024408.4(NOTCH2):c.2792A>G (p.Asn931Ser) rs2101105785
NM_024408.4(NOTCH2):c.2794A>G (p.Thr932Ala) rs1650070015
NM_024408.4(NOTCH2):c.2835G>T (p.Lys945Asn)
NM_024408.4(NOTCH2):c.2840A>G (p.Gln947Arg)
NM_024408.4(NOTCH2):c.2945T>C (p.Val982Ala) rs992092842
NM_024408.4(NOTCH2):c.2981+3G>A
NM_024408.4(NOTCH2):c.3008T>C (p.Val1003Ala)
NM_024408.4(NOTCH2):c.3029C>T (p.Ser1010Phe)
NM_024408.4(NOTCH2):c.3034T>A (p.Leu1012Met)
NM_024408.4(NOTCH2):c.3053C>A (p.Thr1018Asn)
NM_024408.4(NOTCH2):c.3089G>C (p.Ser1030Thr)
NM_024408.4(NOTCH2):c.3094C>T (p.His1032Tyr)
NM_024408.4(NOTCH2):c.3103C>G (p.Leu1035Val)
NM_024408.4(NOTCH2):c.3104T>C (p.Leu1035Pro) rs1038706033
NM_024408.4(NOTCH2):c.3154C>A (p.Pro1052Thr) rs1417119248
NM_024408.4(NOTCH2):c.3166A>G (p.Thr1056Ala) rs1650029261
NM_024408.4(NOTCH2):c.3183+4A>G
NM_024408.4(NOTCH2):c.3208T>C (p.Ser1070Pro) rs1649920831
NM_024408.4(NOTCH2):c.3209C>T (p.Ser1070Phe) rs1649920676
NM_024408.4(NOTCH2):c.3217A>G (p.Lys1073Glu)
NM_024408.4(NOTCH2):c.3220A>C (p.Asn1074His)
NM_024408.4(NOTCH2):c.3224A>C (p.Lys1075Thr) rs2101100097
NM_024408.4(NOTCH2):c.3244A>G (p.Lys1082Glu)
NM_024408.4(NOTCH2):c.3276_3284del (p.Trp1093_Gly1095del)
NM_024408.4(NOTCH2):c.3307G>A (p.Val1103Ile)
NM_024408.4(NOTCH2):c.3319A>G (p.Ile1107Val) rs781824405
NM_024408.4(NOTCH2):c.3331A>G (p.Arg1111Gly)
NM_024408.4(NOTCH2):c.3340G>T (p.Val1114Leu)
NM_024408.4(NOTCH2):c.3347T>C (p.Val1116Ala)
NM_024408.4(NOTCH2):c.3353A>C (p.His1118Pro)
NM_024408.4(NOTCH2):c.3363G>A (p.Gln1121=)
NM_024408.4(NOTCH2):c.3383A>G (p.Asn1128Ser) rs1649897158
NM_024408.4(NOTCH2):c.3433T>C (p.Tyr1145His)
NM_024408.4(NOTCH2):c.3442G>A (p.Glu1148Lys)
NM_024408.4(NOTCH2):c.3451G>A (p.Asp1151Asn)
NM_024408.4(NOTCH2):c.3481G>A (p.Gly1161Arg)
NM_024408.4(NOTCH2):c.3493A>C (p.Ser1165Arg)
NM_024408.4(NOTCH2):c.3499T>G (p.Phe1167Val)
NM_024408.4(NOTCH2):c.3523-4G>T
NM_024408.4(NOTCH2):c.3527T>C (p.Val1176Ala) rs2101182866
NM_024408.4(NOTCH2):c.3553G>A (p.Glu1185Lys)
NM_024408.4(NOTCH2):c.3566A>T (p.Asp1189Val)
NM_024408.4(NOTCH2):c.3584C>T (p.Pro1195Leu)
NM_024408.4(NOTCH2):c.3607A>G (p.Ile1203Val)
NM_024408.4(NOTCH2):c.3650C>T (p.Thr1217Ile)
NM_024408.4(NOTCH2):c.3664T>A (p.Cys1222Ser)
NM_024408.4(NOTCH2):c.3670G>A (p.Glu1224Lys) rs886044885
NM_024408.4(NOTCH2):c.3677T>C (p.Ile1226Thr)
NM_024408.4(NOTCH2):c.3691C>T (p.Arg1231Trp)
NM_024408.4(NOTCH2):c.3692G>A (p.Arg1231Gln)
NM_024408.4(NOTCH2):c.3694G>T (p.Gly1232Cys)
NM_024408.4(NOTCH2):c.3698C>T (p.Pro1233Leu) rs1318131579
NM_024408.4(NOTCH2):c.3778C>T (p.Arg1260Cys)
NM_024408.4(NOTCH2):c.3820A>G (p.Ser1274Gly)
NM_024408.4(NOTCH2):c.3865C>G (p.Leu1289Val)
NM_024408.4(NOTCH2):c.3907A>C (p.Thr1303Pro)
NM_024408.4(NOTCH2):c.3917A>C (p.Asp1306Ala)
NM_024408.4(NOTCH2):c.3920T>C (p.Val1307Ala)
NM_024408.4(NOTCH2):c.3971A>C (p.Asn1324Thr)
NM_024408.4(NOTCH2):c.3976C>T (p.Pro1326Ser)
NM_024408.4(NOTCH2):c.3994C>T (p.Arg1332Cys)
NM_024408.4(NOTCH2):c.3997T>C (p.Cys1333Arg)
NM_024408.4(NOTCH2):c.4001C>G (p.Pro1334Arg)
NM_024408.4(NOTCH2):c.4004C>T (p.Pro1335Leu)
NM_024408.4(NOTCH2):c.4005G>T (p.Pro1335=)
NM_024408.4(NOTCH2):c.4015G>A (p.Gly1339Arg)
NM_024408.4(NOTCH2):c.4023G>T (p.Arg1341Ser)
NM_024408.4(NOTCH2):c.4039G>A (p.Gly1347Arg) rs2101163283
NM_024408.4(NOTCH2):c.4045G>A (p.Val1349Met) rs776129840
NM_024408.4(NOTCH2):c.4058A>G (p.Lys1353Arg)
NM_024408.4(NOTCH2):c.4076A>C (p.His1359Pro)
NM_024408.4(NOTCH2):c.4076A>G (p.His1359Arg)
NM_024408.4(NOTCH2):c.4081G>A (p.Ala1361Thr)
NM_024408.4(NOTCH2):c.4094G>A (p.Arg1365His)
NM_024408.4(NOTCH2):c.4115G>A (p.Arg1372Gln)
NM_024408.4(NOTCH2):c.4123G>A (p.Glu1375Lys)
NM_024408.4(NOTCH2):c.4129G>A (p.Gly1377Ser)
NM_024408.4(NOTCH2):c.4145C>G (p.Pro1382Arg) rs1418033447
NM_024408.4(NOTCH2):c.4156G>C (p.Gly1386Arg)
NM_024408.4(NOTCH2):c.4171C>A (p.Pro1391Thr)
NM_024408.4(NOTCH2):c.4177C>G (p.Arg1393Gly)
NM_024408.4(NOTCH2):c.4187C>G (p.Pro1396Arg)
NM_024408.4(NOTCH2):c.4243A>G (p.Thr1415Ala)
NM_024408.4(NOTCH2):c.4244C>G (p.Thr1415Arg)
NM_024408.4(NOTCH2):c.4247C>G (p.Ala1416Gly)
NM_024408.4(NOTCH2):c.4249C>A (p.Pro1417Thr)
NM_024408.4(NOTCH2):c.4252C>T (p.Pro1418Ser)
NM_024408.4(NOTCH2):c.4253C>T (p.Pro1418Leu)
NM_024408.4(NOTCH2):c.4276C>A (p.Leu1426Met) rs1268581110
NM_024408.4(NOTCH2):c.4283A>G (p.Gln1428Arg)
NM_024408.4(NOTCH2):c.4310G>A (p.Gly1437Asp)
NM_024408.4(NOTCH2):c.4316G>A (p.Cys1439Tyr) rs2101162209
NM_024408.4(NOTCH2):c.4337A>G (p.His1446Arg)
NM_024408.4(NOTCH2):c.4354G>A (p.Gly1452Arg)
NM_024408.4(NOTCH2):c.4356_4358del (p.Gly1453del)
NM_024408.4(NOTCH2):c.4369C>G (p.Leu1457Val)
NM_024408.4(NOTCH2):c.4383C>A (p.Asn1461Lys)
NM_024408.4(NOTCH2):c.4387_4388delinsCT (p.Trp1463Leu)
NM_024408.4(NOTCH2):c.4392C>T (p.Ala1464=)
NM_024408.4(NOTCH2):c.4394A>G (p.Asn1465Ser) rs886044112
NM_024408.4(NOTCH2):c.4412C>T (p.Pro1471Leu)
NM_024408.4(NOTCH2):c.4420G>T (p.Asp1474Tyr)
NM_024408.4(NOTCH2):c.4424A>T (p.Tyr1475Phe)
NM_024408.4(NOTCH2):c.4462G>A (p.Glu1488Lys)
NM_024408.4(NOTCH2):c.4478A>G (p.Asn1493Ser)
NM_024408.4(NOTCH2):c.4511+6G>A
NM_024408.4(NOTCH2):c.4512-3T>G
NM_024408.4(NOTCH2):c.4519A>G (p.Lys1507Glu)
NM_024408.4(NOTCH2):c.4531G>C (p.Asp1511His)
NM_024408.4(NOTCH2):c.4578G>T (p.Glu1526Asp)
NM_024408.4(NOTCH2):c.4610A>C (p.Asp1537Ala)
NM_024408.4(NOTCH2):c.4615C>A (p.Pro1539Thr)
NM_024408.4(NOTCH2):c.4623C>A (p.Asn1541Lys)
NM_024408.4(NOTCH2):c.4624C>G (p.Leu1542Val)
NM_024408.4(NOTCH2):c.4647T>G (p.Ile1549Met) rs1396873392
NM_024408.4(NOTCH2):c.4675C>G (p.Leu1559Val)
NM_024408.4(NOTCH2):c.4688G>T (p.Arg1563Leu)
NM_024408.4(NOTCH2):c.4692C>G (p.Ser1564Arg) rs774541297
NM_024408.4(NOTCH2):c.4712C>A (p.Thr1571Asn)
NM_024408.4(NOTCH2):c.4732C>T (p.Arg1578Cys)
NM_024408.4(NOTCH2):c.4742G>A (p.Arg1581Gln)
NM_024408.4(NOTCH2):c.4744G>A (p.Asp1582Asn)
NM_024408.4(NOTCH2):c.4748C>T (p.Ser1583Phe)
NM_024408.4(NOTCH2):c.4758A>C (p.Glu1586Asp)
NM_024408.4(NOTCH2):c.4759C>T (p.Leu1587Phe)
NM_024408.4(NOTCH2):c.4771C>T (p.Pro1591Ser)
NM_024408.4(NOTCH2):c.4798A>G (p.Met1600Val)
NM_024408.4(NOTCH2):c.4814T>C (p.Met1605Thr)
NM_024408.4(NOTCH2):c.4819C>A (p.Arg1607Ser)
NM_024408.4(NOTCH2):c.4820G>C (p.Arg1607Pro)
NM_024408.4(NOTCH2):c.4825T>A (p.Ser1609Thr)
NM_024408.4(NOTCH2):c.4839A>C (p.Glu1613Asp)
NM_024408.4(NOTCH2):c.4840C>A (p.Gln1614Lys) rs1557805633
NM_024408.4(NOTCH2):c.4846C>G (p.Gln1616Glu)
NM_024408.4(NOTCH2):c.4851G>T (p.Glu1617Asp)
NM_024408.4(NOTCH2):c.4864A>G (p.Lys1622Glu)
NM_024408.4(NOTCH2):c.4886A>C (p.Asn1629Thr)
NM_024408.4(NOTCH2):c.4888C>T (p.Arg1630Cys) rs1649331292
NM_024408.4(NOTCH2):c.4889G>A (p.Arg1630His)
NM_024408.4(NOTCH2):c.4893G>T (p.Gln1631His)
NM_024408.4(NOTCH2):c.4895G>A (p.Cys1632Tyr)
NM_024408.4(NOTCH2):c.4923G>T (p.Lys1641Asn)
NM_024408.4(NOTCH2):c.4931A>T (p.Asp1644Val)
NM_024408.4(NOTCH2):c.4939G>T (p.Ala1647Ser) rs2101156178
NM_024408.4(NOTCH2):c.4963A>G (p.Ile1655Val)
NM_024408.4(NOTCH2):c.4970G>A (p.Gly1657Glu)
NM_024408.4(NOTCH2):c.4996G>A (p.Val1666Ile)
NM_024408.4(NOTCH2):c.5008T>A (p.Ser1670Thr)
NM_024408.4(NOTCH2):c.5008T>C (p.Ser1670Pro)
NM_024408.4(NOTCH2):c.5017C>G (p.Pro1673Ala)
NM_024408.4(NOTCH2):c.5023C>T (p.Arg1675Cys)
NM_024408.4(NOTCH2):c.5024G>A (p.Arg1675His)
NM_024408.4(NOTCH2):c.5031G>T (p.Gln1677His) rs1345166838
NM_024408.4(NOTCH2):c.5032C>T (p.Leu1678Phe)
NM_024408.4(NOTCH2):c.5062A>G (p.Ile1688Val)
NM_024408.4(NOTCH2):c.5152C>G (p.Arg1718Gly)
NM_024408.4(NOTCH2):c.5152C>T (p.Arg1718Cys)
NM_024408.4(NOTCH2):c.5155C>G (p.Arg1719Gly)
NM_024408.4(NOTCH2):c.5168A>G (p.Asn1723Ser)
NM_024408.4(NOTCH2):c.5170C>A (p.His1724Asn)
NM_024408.4(NOTCH2):c.5174A>G (p.Lys1725Arg)
NM_024408.4(NOTCH2):c.5177G>A (p.Arg1726His) rs1557804884
NM_024408.4(NOTCH2):c.5180G>T (p.Arg1727Leu)
NM_024408.4(NOTCH2):c.5218C>T (p.Leu1740Phe)
NM_024408.4(NOTCH2):c.5252G>A (p.Gly1751Asp)
NM_024408.4(NOTCH2):c.5278G>A (p.Asp1760Asn)
NM_024408.4(NOTCH2):c.5303A>G (p.Lys1768Arg)
NM_024408.4(NOTCH2):c.5306T>C (p.Val1769Ala)
NM_024408.4(NOTCH2):c.5335G>A (p.Glu1779Lys)
NM_024408.4(NOTCH2):c.5357G>A (p.Arg1786Gln)
NM_024408.4(NOTCH2):c.5359C>T (p.Arg1787Trp)
NM_024408.4(NOTCH2):c.5368A>T (p.Thr1790Ser)
NM_024408.4(NOTCH2):c.5384A>C (p.Glu1795Ala) rs2101151536
NM_024408.4(NOTCH2):c.5395A>G (p.Ile1799Val)
NM_024408.4(NOTCH2):c.5403G>T (p.Arg1801Ser)
NM_024408.4(NOTCH2):c.5425C>G (p.Pro1809Ala)
NM_024408.4(NOTCH2):c.5429C>T (p.Pro1810Leu)
NM_024408.4(NOTCH2):c.5470C>T (p.Arg1824Cys)
NM_024408.4(NOTCH2):c.5496G>T (p.Leu1832Phe)
NM_024408.4(NOTCH2):c.5509C>T (p.Leu1837Phe)
NM_024408.4(NOTCH2):c.5530T>G (p.Leu1844Val)
NM_024408.4(NOTCH2):c.5540AAGATG[1] (p.1847ED[1]) rs764518778
NM_024408.4(NOTCH2):c.5557G>C (p.Asp1853His)
NM_024408.4(NOTCH2):c.5569A>C (p.Asn1857His)
NM_024408.4(NOTCH2):c.5579C>T (p.Thr1860Ile)
NM_024408.4(NOTCH2):c.5595G>C (p.Gln1865His)
NM_024408.4(NOTCH2):c.5623C>T (p.Arg1875Trp)
NM_024408.4(NOTCH2):c.5660A>C (p.Tyr1887Ser)
NM_024408.4(NOTCH2):c.5660A>G (p.Tyr1887Cys)
NM_024408.4(NOTCH2):c.5683C>A (p.Arg1895Ser)
NM_024408.4(NOTCH2):c.5683C>T (p.Arg1895Cys)
NM_024408.4(NOTCH2):c.5705A>G (p.Asp1902Gly)
NM_024408.4(NOTCH2):c.5798G>A (p.Arg1933Gln)
NM_024408.4(NOTCH2):c.5798G>C (p.Arg1933Pro)
NM_024408.4(NOTCH2):c.5799A>G (p.Arg1933=) rs1649165617
NM_024408.4(NOTCH2):c.5824A>G (p.Asn1942Asp)
NM_024408.4(NOTCH2):c.5837C>T (p.Thr1946Ile)
NM_024408.4(NOTCH2):c.5839C>T (p.Pro1947Ser)
NM_024408.4(NOTCH2):c.5858G>T (p.Arg1953Leu)
NM_024408.4(NOTCH2):c.5864C>T (p.Ala1955Val)
NM_024408.4(NOTCH2):c.5877G>T (p.Met1959Ile)
NM_024408.4(NOTCH2):c.5878G>A (p.Val1960Met)
NM_024408.4(NOTCH2):c.5903C>T (p.Ala1968Val)
NM_024408.4(NOTCH2):c.5911A>T (p.Asn1971Tyr)
NM_024408.4(NOTCH2):c.5945A>G (p.His1982Arg) rs1553193747
NM_024408.4(NOTCH2):c.5951C>A (p.Ala1984Glu)
NM_024408.4(NOTCH2):c.5968G>A (p.Val1990Met)
NM_024408.4(NOTCH2):c.5987T>G (p.Leu1996Trp)
NM_024408.4(NOTCH2):c.6024C>G (p.Asn2008Lys)
NM_024408.4(NOTCH2):c.6055C>G (p.Arg2019Gly) rs1430961661
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.6129T>A (p.Asp2043Glu)
NM_024408.4(NOTCH2):c.6131G>A (p.Arg2044His)
NM_024408.4(NOTCH2):c.6139C>G (p.Arg2047Gly) rs140353589
NM_024408.4(NOTCH2):c.6143A>T (p.Asp2048Val)
NM_024408.4(NOTCH2):c.6154G>T (p.Asp2052Tyr)
NM_024408.4(NOTCH2):c.6158G>A (p.Arg2053His)
NM_024408.4(NOTCH2):c.6166C>T (p.His2056Tyr)
NM_024408.4(NOTCH2):c.6172A>G (p.Ile2058Val)
NM_024408.4(NOTCH2):c.6173T>C (p.Ile2058Thr)
NM_024408.4(NOTCH2):c.6179G>A (p.Arg2060His)
NM_024408.4(NOTCH2):c.6200T>C (p.Val2067Ala)
NM_024408.4(NOTCH2):c.6208A>T (p.Ser2070Cys)
NM_024408.4(NOTCH2):c.6236C>T (p.Ala2079Val)
NM_024408.4(NOTCH2):c.6238C>G (p.Leu2080Val)
NM_024408.4(NOTCH2):c.6269C>G (p.Ser2090Cys)
NM_024408.4(NOTCH2):c.6284A>G (p.Lys2095Arg)
NM_024408.4(NOTCH2):c.6314G>A (p.Arg2105Gln)
NM_024408.4(NOTCH2):c.6317C>T (p.Pro2106Leu)
NM_024408.4(NOTCH2):c.6320G>A (p.Ser2107Asn)
NM_024408.4(NOTCH2):c.6356T>C (p.Leu2119Pro)
NM_024408.4(NOTCH2):c.6384TAG[1] (p.Ser2129del)
NM_024408.4(NOTCH2):c.6394AAG[1] (p.Lys2133del)
NM_024408.4(NOTCH2):c.6404T>C (p.Leu2135Pro) rs2101144269
NM_024408.4(NOTCH2):c.6455A>G (p.Asp2152Gly)
NM_024408.4(NOTCH2):c.6472C>T (p.His2158Tyr)
NM_024408.4(NOTCH2):c.6474C>A (p.His2158Gln) rs1649064512
NM_024408.4(NOTCH2):c.6474C>G (p.His2158Gln)
NM_024408.4(NOTCH2):c.6476C>T (p.Thr2159Met)
NM_024408.4(NOTCH2):c.6485C>T (p.Ser2162Phe)
NM_024408.4(NOTCH2):c.6505A>G (p.Met2169Val)
NM_024408.4(NOTCH2):c.6512C>T (p.Thr2171Ile) rs1204320422
NM_024408.4(NOTCH2):c.6521G>C (p.Gly2174Ala)
NM_024408.4(NOTCH2):c.6533C>A (p.Ala2178Asp) rs770234870
NM_024408.4(NOTCH2):c.6533C>G (p.Ala2178Gly)
NM_024408.4(NOTCH2):c.6549G>A (p.Met2183Ile)
NM_024408.4(NOTCH2):c.6554C>T (p.Ala2185Val)
NM_024408.4(NOTCH2):c.6572C>T (p.Ala2191Val)
NM_024408.4(NOTCH2):c.6575C>T (p.Pro2192Leu)
NM_024408.4(NOTCH2):c.6588G>C (p.Gln2196His)
NM_024408.4(NOTCH2):c.6618A>C (p.Glu2206Asp) rs2101143543
NM_024408.4(NOTCH2):c.6640G>A (p.Ala2214Thr)
NM_024408.4(NOTCH2):c.6640G>T (p.Ala2214Ser)
NM_024408.4(NOTCH2):c.6661G>C (p.Val2221Leu) rs898248472
NM_024408.4(NOTCH2):c.6671T>C (p.Leu2224Ser)
NM_024408.4(NOTCH2):c.6685C>T (p.His2229Tyr) rs1557802029
NM_024408.4(NOTCH2):c.6690T>G (p.Ile2230Met)
NM_024408.4(NOTCH2):c.6710G>C (p.Ser2237Thr)
NM_024408.4(NOTCH2):c.6710G>T (p.Ser2237Ile)
NM_024408.4(NOTCH2):c.6751G>A (p.Ala2251Thr)
NM_024408.4(NOTCH2):c.6785C>G (p.Thr2262Ser)
NM_024408.4(NOTCH2):c.6802T>A (p.Phe2268Ile) rs149580724
NM_024408.4(NOTCH2):c.6805G>C (p.Gly2269Arg)
NM_024408.4(NOTCH2):c.6814C>G (p.Leu2272Val)
NM_024408.4(NOTCH2):c.6817G>C (p.Ala2273Pro)
NM_024408.4(NOTCH2):c.6871G>A (p.Gly2291Arg) rs2101142798
NM_024408.4(NOTCH2):c.6910A>C (p.Ile2304Leu) rs1649046175
NM_024408.4(NOTCH2):c.6916A>T (p.Thr2306Ser) rs1557801809
NM_024408.4(NOTCH2):c.6924G>C (p.Gln2308His)
NM_024408.4(NOTCH2):c.6998C>T (p.Ala2333Val)
NM_024408.4(NOTCH2):c.7030G>A (p.Glu2344Lys)
NM_024408.4(NOTCH2):c.7039C>T (p.Arg2347Cys)
NM_024408.4(NOTCH2):c.7055C>T (p.Ala2352Val)
NM_024408.4(NOTCH2):c.7057T>C (p.Phe2353Leu)
NM_024408.4(NOTCH2):c.7069A>G (p.Met2357Val)
NM_024408.4(NOTCH2):c.7070T>C (p.Met2357Thr)
NM_024408.4(NOTCH2):c.7072A>G (p.Met2358Val) rs763117840
NM_024408.4(NOTCH2):c.7074G>T (p.Met2358Ile)
NM_024408.4(NOTCH2):c.7097C>T (p.Ala2366Val)
NM_024408.4(NOTCH2):c.7108C>G (p.Leu2370Val)
NM_024408.4(NOTCH2):c.7112C>T (p.Pro2371Leu)
NM_024408.4(NOTCH2):c.7114G>A (p.Ala2372Thr)
NM_024408.4(NOTCH2):c.7120C>G (p.His2374Asp)
NM_024408.4(NOTCH2):c.7126T>C (p.Phe2376Leu)
NM_024408.4(NOTCH2):c.7129C>A (p.Pro2377Thr)
NM_024408.4(NOTCH2):c.7130C>T (p.Pro2377Leu)
NM_024408.4(NOTCH2):c.7136C>T (p.Ser2379Phe)
NM_024408.4(NOTCH2):c.7159C>A (p.Pro2387Thr)
NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala) rs1464974590
NM_024408.4(NOTCH2):c.7217G>T (p.Gly2406Val)
NM_024408.4(NOTCH2):c.7265C>T (p.Pro2422Leu)
NM_024408.4(NOTCH2):c.7269C>A (p.Asp2423Glu)
NM_024408.4(NOTCH2):c.7280G>C (p.Ser2427Thr) rs1649029477
NM_024408.4(NOTCH2):c.7301C>A (p.Ser2434Tyr)
NM_024408.4(NOTCH2):c.7318A>G (p.Thr2440Ala)
NM_024408.4(NOTCH2):c.7336G>C (p.Gly2446Arg) rs1379769528
NM_024408.4(NOTCH2):c.7337G>A (p.Gly2446Glu)
NM_024408.4(NOTCH2):c.7356G>T (p.Gln2452His) rs1352825600
NM_024408.4(NOTCH2):c.7364C>T (p.Pro2455Leu)
NM_024408.4(NOTCH2):c.7376T>C (p.Met2459Thr)
NM_024408.4(NOTCH2):c.7390C>G (p.His2464Asp)
NM_024408.4(NOTCH2):c.7390C>T (p.His2464Tyr)
NM_024408.4(NOTCH2):c.7402C>A (p.Gln2468Lys)
NM_024408.4(NOTCH2):c.7405G>A (p.Val2469Ile)
NM_024408.4(NOTCH2):c.757G>A (p.Glu253Lys)
NM_024408.4(NOTCH2):c.782T>G (p.Ile261Ser) rs1202374604
NM_024408.4(NOTCH2):c.815G>A (p.Gly272Glu) rs1557834076
NM_024408.4(NOTCH2):c.820G>A (p.Val274Ile)
NM_024408.4(NOTCH2):c.853C>T (p.Arg285Cys) rs142614610
NM_024408.4(NOTCH2):c.854G>A (p.Arg285His)
NM_024408.4(NOTCH2):c.854G>T (p.Arg285Leu)
NM_024408.4(NOTCH2):c.859C>G (p.Pro287Ala)
NM_024408.4(NOTCH2):c.859C>T (p.Pro287Ser)
NM_024408.4(NOTCH2):c.874+6T>C
NM_024408.4(NOTCH2):c.908T>C (p.Leu303Pro)
NM_024408.4(NOTCH2):c.920A>G (p.Asn307Ser)
NM_024408.4(NOTCH2):c.953G>T (p.Arg318Leu)
NM_024408.4(NOTCH2):c.998A>T (p.Asp333Val) rs782747038

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