ClinVar Miner

List of variants studied for Alagille syndrome due to a NOTCH2 point mutation

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 340
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.1108+30A>G rs2493409 0.97622
NM_024408.4(NOTCH2):c.2753-44C>T rs2493420 0.22074
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=) rs34561092 0.00733
NM_024408.4(NOTCH2):c.1567+12C>T rs78223268 0.00306
NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=) rs61734328 0.00241
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_024408.4(NOTCH2):c.7G>T (p.Ala3Ser) rs782113557 0.00218
NM_024408.4(NOTCH2):c.1568-17C>T rs373665797 0.00198
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_024408.4(NOTCH2):c.1108+14G>A rs377649578 0.00098
NM_024408.4(NOTCH2):c.2752+17G>C rs370708756 0.00066
NM_024408.4(NOTCH2):c.2981+11A>G rs148899572 0.00063
NM_024408.4(NOTCH2):c.7140G>C (p.Val2380=) rs150785478 0.00051
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=) rs150657714 0.00029
NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro) rs143506822 0.00021
NM_024408.4(NOTCH2):c.6486C>T (p.Ser2162=) rs372865598 0.00018
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987 0.00017
NM_024408.4(NOTCH2):c.2480-4C>G rs201770901 0.00016
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln) rs140832430 0.00016
NM_024408.4(NOTCH2):c.6362A>G (p.Lys2121Arg) rs148393324 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.1681+9C>A rs192886452 0.00009
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.3912C>T (p.Phe1304=) rs764301517 0.00007
NM_024408.4(NOTCH2):c.4922A>C (p.Lys1641Thr) rs148354054 0.00007
NM_024408.4(NOTCH2):c.1803C>T (p.Gly601=) rs377566312 0.00006
NM_024408.4(NOTCH2):c.3305A>G (p.Asn1102Ser) rs781872271 0.00006
NM_024408.4(NOTCH2):c.3462G>A (p.Ala1154=) rs146593279 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.881T>A (p.Phe294Tyr) rs369664394 0.00006
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.1109-12A>C rs782601589 0.00004
NM_024408.4(NOTCH2):c.1158G>A (p.Lys386=) rs781863099 0.00004
NM_024408.4(NOTCH2):c.2647A>G (p.Met883Val) rs145079718 0.00004
NM_024408.4(NOTCH2):c.5217T>C (p.Asn1739=) rs768669808 0.00004
NM_024408.4(NOTCH2):c.5314G>A (p.Glu1772Lys) rs587778576 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.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.4270A>G (p.Thr1424Ala) rs760325217 0.00003
NM_024408.4(NOTCH2):c.5214-12T>C rs770224035 0.00003
NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His) rs201996575 0.00003
NM_024408.4(NOTCH2):c.6103A>C (p.Asn2035His) rs745697811 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.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.2501T>G (p.Leu834Trp) rs376526633 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.4998C>T (p.Val1666=) rs765967094 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.6481G>A (p.Val2161Ile) rs1470762283 0.00002
NM_024408.4(NOTCH2):c.6878A>C (p.His2293Pro) rs780904023 0.00002
NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter) rs1174406807 0.00002
NM_024408.4(NOTCH2):c.1032C>T (p.Phe344=) rs782702694 0.00001
NM_024408.4(NOTCH2):c.1248G>A (p.Val416=) rs374135765 0.00001
NM_024408.4(NOTCH2):c.1978A>G (p.Met660Val) rs1447605154 0.00001
NM_024408.4(NOTCH2):c.2026+6G>T rs587731563 0.00001
NM_024408.4(NOTCH2):c.2142C>G (p.His714Gln) rs1553198250 0.00001
NM_024408.4(NOTCH2):c.2295A>G (p.Pro765=) rs139358772 0.00001
NM_024408.4(NOTCH2):c.2323C>G (p.Leu775Val) rs1230128244 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.2948A>G (p.His983Arg) rs1403687128 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.3700C>T (p.His1234Tyr) rs797044475 0.00001
NM_024408.4(NOTCH2):c.3701A>G (p.His1234Arg) rs782254462 0.00001
NM_024408.4(NOTCH2):c.3908C>G (p.Thr1303Ser) rs1359085444 0.00001
NM_024408.4(NOTCH2):c.4178G>A (p.Arg1393His) rs587735797 0.00001
NM_024408.4(NOTCH2):c.4244C>T (p.Thr1415Met) rs758275919 0.00001
NM_024408.4(NOTCH2):c.4457C>T (p.Thr1486Met) rs762374093 0.00001
NM_024408.4(NOTCH2):c.4511+7G>T rs778914409 0.00001
NM_024408.4(NOTCH2):c.4733G>A (p.Arg1578His) rs751299682 0.00001
NM_024408.4(NOTCH2):c.4964T>C (p.Ile1655Thr) rs1475486687 0.00001
NM_024408.4(NOTCH2):c.5214-10A>G rs761995764 0.00001
NM_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu) rs1570660422 0.00001
NM_024408.4(NOTCH2):c.5732G>A (p.Arg1911His) rs1216790064 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.6124A>G (p.Met2042Val) rs1244625283 0.00001
NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=) rs587733506 0.00001
NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr) rs139052054 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.6911T>C (p.Ile2304Thr) rs1370844431 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.7199G>A (p.Arg2400Gln) rs587654671 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
NM_024408.4(NOTCH2):c.1067G>A (p.Arg356His)
NM_024408.4(NOTCH2):c.1113C>G (p.Leu371=) rs782323295
NM_024408.4(NOTCH2):c.1141A>C (p.Ser381Arg)
NM_024408.4(NOTCH2):c.1196A>G (p.Tyr399Cys)
NM_024408.4(NOTCH2):c.1203C>T (p.Cys401=)
NM_024408.4(NOTCH2):c.1222A>G (p.Lys408Glu)
NM_024408.4(NOTCH2):c.1228G>A (p.Ala410Thr)
NM_024408.4(NOTCH2):c.1265-14C>T
NM_024408.4(NOTCH2):c.1278T>A (p.Pro426=)
NM_024408.4(NOTCH2):c.1289C>G (p.Ala430Gly)
NM_024408.4(NOTCH2):c.1298G>A (p.Cys433Tyr)
NM_024408.4(NOTCH2):c.1323C>A (p.His441Gln)
NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr) rs111033632
NM_024408.4(NOTCH2):c.1388A>G (p.Asp463Gly)
NM_024408.4(NOTCH2):c.1426G>A (p.Gly476Arg)
NM_024408.4(NOTCH2):c.1450C>T (p.Pro484Ser)
NM_024408.4(NOTCH2):c.1454-11G>T
NM_024408.4(NOTCH2):c.1492T>C (p.Cys498Arg)
NM_024408.4(NOTCH2):c.1521G>T (p.Gly507=)
NM_024408.4(NOTCH2):c.1562C>G (p.Pro521Arg)
NM_024408.4(NOTCH2):c.15C>T (p.Arg5=) rs4021006
NM_024408.4(NOTCH2):c.1650C>A (p.His550Gln)
NM_024408.4(NOTCH2):c.1682-1G>A
NM_024408.4(NOTCH2):c.1688C>A (p.Thr563Asn)
NM_024408.4(NOTCH2):c.1711A>G (p.Ile571Val)
NM_024408.4(NOTCH2):c.1733C>T (p.Pro578Leu)
NM_024408.4(NOTCH2):c.1787A>G (p.Asn596Ser)
NM_024408.4(NOTCH2):c.179A>T (p.Glu60Val)
NM_024408.4(NOTCH2):c.1800G>A (p.Met600Ile)
NM_024408.4(NOTCH2):c.1837A>G (p.Ser613Gly)
NM_024408.4(NOTCH2):c.1869T>A (p.Ile623=)
NM_024408.4(NOTCH2):c.1918G>T (p.Val640Phe)
NM_024408.4(NOTCH2):c.1955A>G (p.Asn652Ser)
NM_024408.4(NOTCH2):c.1961G>C (p.Cys654Ser)
NM_024408.4(NOTCH2):c.19G>T (p.Ala7Ser)
NM_024408.4(NOTCH2):c.2063C>T (p.Ser688Phe)
NM_024408.4(NOTCH2):c.2078A>C (p.Lys693Thr)
NM_024408.4(NOTCH2):c.2113C>T (p.Arg705Cys)
NM_024408.4(NOTCH2):c.214C>T (p.Arg72Cys)
NM_024408.4(NOTCH2):c.2195G>A (p.Gly732Glu)
NM_024408.4(NOTCH2):c.2239G>A (p.Ala747Thr) rs782424159
NM_024408.4(NOTCH2):c.2263G>A (p.Glu755Lys)
NM_024408.4(NOTCH2):c.2269G>C (p.Asp757His)
NM_024408.4(NOTCH2):c.2309G>A (p.Gly770Glu)
NM_024408.4(NOTCH2):c.2312C>T (p.Thr771Ile)
NM_024408.4(NOTCH2):c.2338A>G (p.Arg780Gly)
NM_024408.4(NOTCH2):c.2365G>A (p.Gly789Ser) rs2101122120
NM_024408.4(NOTCH2):c.241G>C (p.Ala81Pro)
NM_024408.4(NOTCH2):c.2426C>A (p.Thr809Asn)
NM_024408.4(NOTCH2):c.2484G>T (p.Lys828Asn)
NM_024408.4(NOTCH2):c.2554C>G (p.Pro852Ala)
NM_024408.4(NOTCH2):c.2569dup (p.Tyr857fs)
NM_024408.4(NOTCH2):c.2584G>T (p.Ala862Ser) rs782798700
NM_024408.4(NOTCH2):c.2587C>T (p.Pro863Ser) rs1650362306
NM_024408.4(NOTCH2):c.2614A>T (p.Ile872Phe)
NM_024408.4(NOTCH2):c.2626G>T (p.Glu876Ter)
NM_024408.4(NOTCH2):c.2677G>A (p.Gly893Ser) rs782108690
NM_024408.4(NOTCH2):c.2692G>A (p.Glu898Lys)
NM_024408.4(NOTCH2):c.2699C>T (p.Pro900Leu) rs2101114444
NM_024408.4(NOTCH2):c.2717T>C (p.Met906Thr)
NM_024408.4(NOTCH2):c.272G>A (p.Arg91Gln)
NM_024408.4(NOTCH2):c.273A>G (p.Arg91=)
NM_024408.4(NOTCH2):c.2762A>G (p.Gln921Arg)
NM_024408.4(NOTCH2):c.2765A>G (p.Asn922Ser)
NM_024408.4(NOTCH2):c.2815C>G (p.Pro939Ala)
NM_024408.4(NOTCH2):c.2849T>C (p.Met950Thr)
NM_024408.4(NOTCH2):c.2860C>G (p.Leu954Val)
NM_024408.4(NOTCH2):c.2896G>C (p.Asp966His)
NM_024408.4(NOTCH2):c.2977G>A (p.Glu993Lys)
NM_024408.4(NOTCH2):c.2981+19G>C
NM_024408.4(NOTCH2):c.3139T>C (p.Tyr1047His)
NM_024408.4(NOTCH2):c.3154C>A (p.Pro1052Thr) rs1417119248
NM_024408.4(NOTCH2):c.3155C>T (p.Pro1052Leu)
NM_024408.4(NOTCH2):c.3196C>G (p.Leu1066Val)
NM_024408.4(NOTCH2):c.3217A>G (p.Lys1073Glu)
NM_024408.4(NOTCH2):c.3230C>T (p.Thr1077Ile)
NM_024408.4(NOTCH2):c.3301C>T (p.Pro1101Ser)
NM_024408.4(NOTCH2):c.3302C>T (p.Pro1101Leu)
NM_024408.4(NOTCH2):c.338G>C (p.Arg113Pro)
NM_024408.4(NOTCH2):c.3395C>G (p.Thr1132Arg)
NM_024408.4(NOTCH2):c.340C>T (p.Pro114Ser)
NM_024408.4(NOTCH2):c.3442G>A (p.Glu1148Lys)
NM_024408.4(NOTCH2):c.3522+10C>G
NM_024408.4(NOTCH2):c.3523-15_3523-13del rs782523879
NM_024408.4(NOTCH2):c.3531A>G (p.Pro1177=)
NM_024408.4(NOTCH2):c.3661C>A (p.Leu1221Ile)
NM_024408.4(NOTCH2):c.3670G>A (p.Glu1224Lys) rs886044885
NM_024408.4(NOTCH2):c.3692G>A (p.Arg1231Gln)
NM_024408.4(NOTCH2):c.3813C>T (p.Asn1271=)
NM_024408.4(NOTCH2):c.3877C>T (p.Arg1293Cys)
NM_024408.4(NOTCH2):c.3907A>C (p.Thr1303Pro)
NM_024408.4(NOTCH2):c.3994C>T (p.Arg1332Cys)
NM_024408.4(NOTCH2):c.4001C>G (p.Pro1334Arg)
NM_024408.4(NOTCH2):c.4004C>G (p.Pro1335Arg)
NM_024408.4(NOTCH2):c.4015G>A (p.Gly1339Arg)
NM_024408.4(NOTCH2):c.4019C>T (p.Ala1340Val) rs1649454489
NM_024408.4(NOTCH2):c.4057A>G (p.Lys1353Glu)
NM_024408.4(NOTCH2):c.4079C>T (p.Thr1360Ile)
NM_024408.4(NOTCH2):c.4115G>A (p.Arg1372Gln)
NM_024408.4(NOTCH2):c.4129G>A (p.Gly1377Ser)
NM_024408.4(NOTCH2):c.4155C>A (p.His1385Gln)
NM_024408.4(NOTCH2):c.416-2A>G
NM_024408.4(NOTCH2):c.4194C>T (p.Tyr1398=)
NM_024408.4(NOTCH2):c.4249C>A (p.Pro1417Thr)
NM_024408.4(NOTCH2):c.4304G>A (p.Arg1435Gln) rs747190078
NM_024408.4(NOTCH2):c.4310G>A (p.Gly1437Asp)
NM_024408.4(NOTCH2):c.4355G>A (p.Gly1452Glu)
NM_024408.4(NOTCH2):c.4394A>G (p.Asn1465Ser) rs886044112
NM_024408.4(NOTCH2):c.4411C>G (p.Pro1471Ala)
NM_024408.4(NOTCH2):c.4437G>T (p.Gln1479His)
NM_024408.4(NOTCH2):c.4462G>A (p.Glu1488Lys)
NM_024408.4(NOTCH2):c.4511+13C>T
NM_024408.4(NOTCH2):c.4541A>G (p.Lys1514Arg)
NM_024408.4(NOTCH2):c.4575G>C (p.Glu1525Asp)
NM_024408.4(NOTCH2):c.4576G>C (p.Glu1526Gln)
NM_024408.4(NOTCH2):c.4593dup (p.Leu1532fs)
NM_024408.4(NOTCH2):c.4647T>G (p.Ile1549Met) rs1396873392
NM_024408.4(NOTCH2):c.4651G>A (p.Val1551Ile)
NM_024408.4(NOTCH2):c.4665T>C (p.Pro1555=) rs587722015
NM_024408.4(NOTCH2):c.4666G>C (p.Glu1556Gln)
NM_024408.4(NOTCH2):c.4692C>G (p.Ser1564Arg) rs774541297
NM_024408.4(NOTCH2):c.4715T>A (p.Leu1572Gln)
NM_024408.4(NOTCH2):c.4732C>T (p.Arg1578Cys)
NM_024408.4(NOTCH2):c.4735A>G (p.Ile1579Val)
NM_024408.4(NOTCH2):c.4742G>A (p.Arg1581Gln)
NM_024408.4(NOTCH2):c.4747T>C (p.Ser1583Pro)
NM_024408.4(NOTCH2):c.4756del (p.Glu1586fs)
NM_024408.4(NOTCH2):c.4851G>T (p.Glu1617Asp)
NM_024408.4(NOTCH2):c.4860-8T>A
NM_024408.4(NOTCH2):c.4886A>C (p.Asn1629Thr)
NM_024408.4(NOTCH2):c.4907C>T (p.Ser1636Leu)
NM_024408.4(NOTCH2):c.4965A>G (p.Ile1655Met)
NM_024408.4(NOTCH2):c.4987C>G (p.Leu1663Val)
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.4(NOTCH2):c.5017C>G (p.Pro1673Ala)
NM_024408.4(NOTCH2):c.5024G>A (p.Arg1675His)
NM_024408.4(NOTCH2):c.5031G>T (p.Gln1677His) rs1345166838
NM_024408.4(NOTCH2):c.5032CTC[1] (p.Leu1679del)
NM_024408.4(NOTCH2):c.5065A>G (p.Ile1689Val)
NM_024408.4(NOTCH2):c.5132T>C (p.Leu1711Pro) rs1570660922
NM_024408.4(NOTCH2):c.5177G>A (p.Arg1726His) rs1557804884
NM_024408.4(NOTCH2):c.5214-6_5214-2del
NM_024408.4(NOTCH2):c.5252G>A (p.Gly1751Asp)
NM_024408.4(NOTCH2):c.5255C>T (p.Thr1752Ile)
NM_024408.4(NOTCH2):c.5270A>G (p.His1757Arg)
NM_024408.4(NOTCH2):c.5287G>A (p.Gly1763Arg)
NM_024408.4(NOTCH2):c.5327T>C (p.Leu1776Ser) rs1649240420
NM_024408.4(NOTCH2):c.5351T>C (p.Ile1784Thr)
NM_024408.4(NOTCH2):c.5368A>G (p.Thr1790Ala)
NM_024408.4(NOTCH2):c.5390C>T (p.Ala1797Val)
NM_024408.4(NOTCH2):c.5399G>A (p.Arg1800His)
NM_024408.4(NOTCH2):c.5411C>T (p.Ser1804Leu)
NM_024408.4(NOTCH2):c.5431C>T (p.Gln1811Ter) rs1557804111
NM_024408.4(NOTCH2):c.5486G>A (p.Cys1829Tyr)
NM_024408.4(NOTCH2):c.5540AAGATG[1] (p.1847ED[1]) rs764518778
NM_024408.4(NOTCH2):c.5545G>A (p.Glu1849Lys)
NM_024408.4(NOTCH2):c.5563T>C (p.Ser1855Pro)
NM_024408.4(NOTCH2):c.5623C>T (p.Arg1875Trp)
NM_024408.4(NOTCH2):c.5644C>T (p.His1882Tyr) rs1570658378
NM_024408.4(NOTCH2):c.5842C>A (p.Leu1948Met)
NM_024408.4(NOTCH2):c.5863G>T (p.Ala1955Ser)
NM_024408.4(NOTCH2):c.5884G>A (p.Glu1962Lys)
NM_024408.4(NOTCH2):c.5925C>G (p.Asp1975Glu)
NM_024408.4(NOTCH2):c.5930-1G>A rs312262798
NM_024408.4(NOTCH2):c.5930-2A>G
NM_024408.4(NOTCH2):c.5935T>C (p.Ser1979Pro)
NM_024408.4(NOTCH2):c.5970G>A (p.Val1990=)
NM_024408.4(NOTCH2):c.6028-5T>A
NM_024408.4(NOTCH2):c.6055C>G (p.Arg2019Gly) rs1430961661
NM_024408.4(NOTCH2):c.6060G>T (p.Glu2020Asp)
NM_024408.4(NOTCH2):c.6067T>C (p.Tyr2023His)
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.6125T>C (p.Met2042Thr) rs1649084282
NM_024408.4(NOTCH2):c.6131G>A (p.Arg2044His)
NM_024408.4(NOTCH2):c.6139del (p.Arg2047fs)
NM_024408.4(NOTCH2):c.6160A>T (p.Met2054Leu) rs774262327
NM_024408.4(NOTCH2):c.6179G>A (p.Arg2060His)
NM_024408.4(NOTCH2):c.6219C>T (p.Gly2073=)
NM_024408.4(NOTCH2):c.6263A>G (p.Asn2088Ser)
NM_024408.4(NOTCH2):c.6325A>G (p.Lys2109Glu) rs1649072477
NM_024408.4(NOTCH2):c.6365A>G (p.Glu2122Gly)
NM_024408.4(NOTCH2):c.6394AAG[1] (p.Lys2133del)
NM_024408.4(NOTCH2):c.6401C>G (p.Ser2134Cys)
NM_024408.4(NOTCH2):c.6450del (p.Val2151fs) rs2101144082
NM_024408.4(NOTCH2):c.6460del (p.Ser2153_Leu2154insTer) rs1570655570
NM_024408.4(NOTCH2):c.6474C>G (p.His2158Gln)
NM_024408.4(NOTCH2):c.6496T>C (p.Ser2166Pro) rs886042848
NM_024408.4(NOTCH2):c.6505A>G (p.Met2169Val)
NM_024408.4(NOTCH2):c.650A>G (p.Tyr217Cys)
NM_024408.4(NOTCH2):c.6586C>T (p.Gln2196Ter) rs2101143618
NM_024408.4(NOTCH2):c.6592G>A (p.Ala2198Thr)
NM_024408.4(NOTCH2):c.6618A>C (p.Glu2206Asp) rs2101143543
NM_024408.4(NOTCH2):c.6640del (p.Ala2214fs)
NM_024408.4(NOTCH2):c.6683A>C (p.His2228Pro)
NM_024408.4(NOTCH2):c.6699A>G (p.Pro2233=)
NM_024408.4(NOTCH2):c.6759G>T (p.Trp2253Cys)
NM_024408.4(NOTCH2):c.6805G>C (p.Gly2269Arg)
NM_024408.4(NOTCH2):c.6848C>A (p.Ala2283Asp)
NM_024408.4(NOTCH2):c.6910A>G (p.Ile2304Val)
NM_024408.4(NOTCH2):c.6998C>T (p.Ala2333Val)
NM_024408.4(NOTCH2):c.7072A>G (p.Met2358Val) rs763117840
NM_024408.4(NOTCH2):c.7087G>A (p.Gly2363Arg)
NM_024408.4(NOTCH2):c.7130C>T (p.Pro2377Leu)
NM_024408.4(NOTCH2):c.7141G>T (p.Gly2381Cys)
NM_024408.4(NOTCH2):c.7168C>T (p.His2390Tyr)
NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala) rs1464974590
NM_024408.4(NOTCH2):c.719G>T (p.Gly240Val)
NM_024408.4(NOTCH2):c.7205C>G (p.Pro2402Arg)
NM_024408.4(NOTCH2):c.721G>A (p.Asp241Asn)
NM_024408.4(NOTCH2):c.731T>C (p.Phe244Ser)
NM_024408.4(NOTCH2):c.7326C>T (p.Ser2442=) rs2101141240
NM_024408.4(NOTCH2):c.7375A>G (p.Met2459Val)
NM_024408.4(NOTCH2):c.804G>T (p.Arg268Ser)
NM_024408.4(NOTCH2):c.815G>A (p.Gly272Glu) rs1557834076
NM_024408.4(NOTCH2):c.836T>G (p.Val279Gly) rs1557834060
NM_024408.4(NOTCH2):c.846C>T (p.Tyr282=)
NM_024408.4(NOTCH2):c.853C>T (p.Arg285Cys) rs142614610
NM_024408.4(NOTCH2):c.854G>A (p.Arg285His)
NM_024408.4(NOTCH2):c.8C>T (p.Ala3Val) rs200646249
NM_024408.4(NOTCH2):c.905dup (p.Cys302fs)
NM_024408.4(NOTCH2):c.946G>T (p.Ala316Ser)

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