NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00089
|
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly)
|
rs199638166
|
0.00011
|
NM_000435.3(NOTCH3):c.1500C>T (p.Ser500=)
|
rs146055867
|
0.00008
|
NM_000435.3(NOTCH3):c.1505C>T (p.Ser502Phe)
|
rs778571943
|
0.00007
|
NM_000435.3(NOTCH3):c.4404C>T (p.Asn1468=)
|
rs145425679
|
0.00007
|
NM_000435.3(NOTCH3):c.2358C>T (p.Cys786=)
|
rs754220821
|
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.6164C>T (p.Ala2055Val)
|
rs769066713
|
0.00006
|
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu)
|
rs371491165
|
0.00005
|
NM_000435.3(NOTCH3):c.1277C>T (p.Pro426Leu)
|
rs756516988
|
0.00004
|
NM_000435.3(NOTCH3):c.1724C>T (p.Thr575Met)
|
rs371176740
|
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.3806G>T (p.Gly1269Val)
|
rs781401262
|
0.00004
|
NM_000435.3(NOTCH3):c.5551C>T (p.Arg1851Cys)
|
rs376590511
|
0.00004
|
NM_000435.3(NOTCH3):c.715G>A (p.Asp239Asn)
|
rs761407832
|
0.00004
|
NM_000435.3(NOTCH3):c.143C>T (p.Pro48Leu)
|
rs1362111590
|
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.5554G>A (p.Ala1852Thr)
|
rs971318341
|
0.00003
|
NM_000435.3(NOTCH3):c.3305A>T (p.Tyr1102Phe)
|
rs148838056
|
0.00002
|
NM_000435.3(NOTCH3):c.5180C>T (p.Pro1727Leu)
|
rs989373826
|
0.00002
|
NM_000435.3(NOTCH3):c.6266C>T (p.Pro2089Leu)
|
rs749288986
|
0.00002
|
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.133G>C (p.Asp45His)
|
rs142031490
|
0.00001
|
NM_000435.3(NOTCH3):c.1463T>G (p.Val488Gly)
|
rs760245739
|
0.00001
|
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg)
|
rs148166997
|
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.305C>T (p.Ala102Val)
|
rs1487780762
|
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.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.3552C>G (p.Asp1184Glu)
|
rs763112778
|
0.00001
|
NM_000435.3(NOTCH3):c.3718+6C>T
|
rs545768883
|
0.00001
|
NM_000435.3(NOTCH3):c.4381G>A (p.Gly1461Ser)
|
rs1309726793
|
0.00001
|
NM_000435.3(NOTCH3):c.467G>A (p.Arg156Gln)
|
rs142492710
|
0.00001
|
NM_000435.3(NOTCH3):c.5164A>G (p.Met1722Val)
|
rs1307548749
|
0.00001
|
NM_000435.3(NOTCH3):c.625G>A (p.Gly209Arg)
|
rs776600631
|
0.00001
|
NM_000435.3(NOTCH3):c.6440G>A (p.Gly2147Asp)
|
rs897705605
|
0.00001
|
NM_000435.3(NOTCH3):c.6701G>A (p.Arg2234His)
|
rs750631177
|
0.00001
|
NM_000435.3(NOTCH3):c.730C>T (p.Arg244Ter)
|
rs2046929318
|
0.00001
|
NC_000019.9:g.(?_15284859)_(15311716_?)dup
|
|
|
NM_000435.3(NOTCH3):c.1000G>C (p.Ala334Pro)
|
|
|
NM_000435.3(NOTCH3):c.1024A>G (p.Met342Val)
|
|
|
NM_000435.3(NOTCH3):c.1053G>A (p.Leu351=)
|
|
|
NM_000435.3(NOTCH3):c.1066G>A (p.Val356Ile)
|
rs1599392135
|
|
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.112G>T (p.Ala38Ser)
|
|
|
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.1182G>T (p.Glu394Asp)
|
|
|
NM_000435.3(NOTCH3):c.1191C>T (p.Ile397=)
|
|
|
NM_000435.3(NOTCH3):c.1195G>A (p.Ala399Thr)
|
rs1390414547
|
|
NM_000435.3(NOTCH3):c.1223G>T (p.Cys408Phe)
|
|
|
NM_000435.3(NOTCH3):c.1268A>G (p.Tyr423Cys)
|
rs1555729064
|
|
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.1321C>G (p.Arg441Gly)
|
|
|
NM_000435.3(NOTCH3):c.1327C>T (p.Gln443Ter)
|
|
|
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.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.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.1619C>G (p.Thr540Arg)
|
|
|
NM_000435.3(NOTCH3):c.1621C>A (p.Leu541Met)
|
rs1410670785
|
|
NM_000435.3(NOTCH3):c.1698C>G (p.Phe566Leu)
|
|
|
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.1732C>A (p.Arg578Ser)
|
|
|
NM_000435.3(NOTCH3):c.1756T>C (p.Cys586Arg)
|
|
|
NM_000435.3(NOTCH3):c.1797C>G (p.Asp599Glu)
|
|
|
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.1883C>A (p.Pro628His)
|
|
|
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.1930G>A (p.Val644Ile)
|
|
|
NM_000435.3(NOTCH3):c.1957C>A (p.Leu653Ile)
|
rs1336688514
|
|
NM_000435.3(NOTCH3):c.1957C>T (p.Leu653Phe)
|
|
|
NM_000435.3(NOTCH3):c.1999G>T (p.Gly667Cys)
|
rs376046941
|
|
NM_000435.3(NOTCH3):c.2071C>A (p.Leu691Ile)
|
|
|
NM_000435.3(NOTCH3):c.208G>T (p.Gly70Cys)
|
|
|
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.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.2341G>A (p.Glu781Lys)
|
rs2145428734
|
|
NM_000435.3(NOTCH3):c.2394C>A (p.Cys798Ter)
|
|
|
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly)
|
rs1599395616
|
|
NM_000435.3(NOTCH3):c.2467C>A (p.His823Asn)
|
|
|
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.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.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.2793-2A>G
|
|
|
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.2956T>C (p.Cys986Arg)
|
|
|
NM_000435.3(NOTCH3):c.2962T>C (p.Cys988Arg)
|
rs2145422681
|
|
NM_000435.3(NOTCH3):c.29G>A (p.Arg10His)
|
|
|
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.3206A>G (p.Tyr1069Cys)
|
rs1438064001
|
|
NM_000435.3(NOTCH3):c.341-32_341-21del
|
|
|
NM_000435.3(NOTCH3):c.3425C>T (p.Ala1142Val)
|
|
|
NM_000435.3(NOTCH3):c.3548T>C (p.Val1183Ala)
|
|
|
NM_000435.3(NOTCH3):c.3589T>C (p.Tyr1197His)
|
|
|
NM_000435.3(NOTCH3):c.3628C>G (p.Arg1210Gly)
|
|
|
NM_000435.3(NOTCH3):c.3718+5G>A
|
|
|
NM_000435.3(NOTCH3):c.3727T>C (p.Cys1243Arg)
|
|
|
NM_000435.3(NOTCH3):c.3757_3758delinsAG (p.Gln1253Arg)
|
rs2046814637
|
|
NM_000435.3(NOTCH3):c.37C>T (p.Arg13Cys)
|
|
|
NM_000435.3(NOTCH3):c.3838C>T (p.Pro1280Ser)
|
|
|
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.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.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.4431C>A (p.Asp1477Glu)
|
|
|
NM_000435.3(NOTCH3):c.4534G>A (p.Val1512Met)
|
|
|
NM_000435.3(NOTCH3):c.458G>A (p.Arg153His)
|
|
|
NM_000435.3(NOTCH3):c.4648C>G (p.His1550Asp)
|
|
|
NM_000435.3(NOTCH3):c.4676A>G (p.His1559Arg)
|
rs2145408576
|
|
NM_000435.3(NOTCH3):c.4798T>A (p.Cys1600Ser)
|
rs2046726978
|
|
NM_000435.3(NOTCH3):c.4806C>A (p.Pro1602=)
|
rs578082632
|
|
NM_000435.3(NOTCH3):c.4864T>C (p.Phe1622Leu)
|
|
|
NM_000435.3(NOTCH3):c.5005C>G (p.Arg1669Gly)
|
|
|
NM_000435.3(NOTCH3):c.5089G>T (p.Val1697Leu)
|
|
|
NM_000435.3(NOTCH3):c.531_532delinsTT (p.Pro178Ser)
|
rs2145441756
|
|
NM_000435.3(NOTCH3):c.550C>T (p.Gln184Ter)
|
|
|
NM_000435.3(NOTCH3):c.5543G>A (p.Arg1848His)
|
|
|
NM_000435.3(NOTCH3):c.5552G>A (p.Arg1851His)
|
|
|
NM_000435.3(NOTCH3):c.5603A>G (p.Gln1868Arg)
|
rs2145391979
|
|
NM_000435.3(NOTCH3):c.5704C>T (p.Arg1902Cys)
|
|
|
NM_000435.3(NOTCH3):c.5734C>G (p.Leu1912Val)
|
|
|
NM_000435.3(NOTCH3):c.5738C>T (p.Ala1913Val)
|
|
|
NM_000435.3(NOTCH3):c.5750C>T (p.Ala1917Val)
|
|
|
NM_000435.3(NOTCH3):c.5780C>A (p.Ala1927Asp)
|
|
|
NM_000435.3(NOTCH3):c.5795_5796delinsAT (p.Val1932Asp)
|
|
|
NM_000435.3(NOTCH3):c.589C>T (p.Pro197Ser)
|
|
|
NM_000435.3(NOTCH3):c.5902C>T (p.Gln1968Ter)
|
|
|
NM_000435.3(NOTCH3):c.5993G>A (p.Arg1998His)
|
rs2046644859
|
|
NM_000435.3(NOTCH3):c.6043A>G (p.Arg2015Gly)
|
rs2046644200
|
|
NM_000435.3(NOTCH3):c.605_606inv (p.Ala202Val)
|
|
|
NM_000435.3(NOTCH3):c.6097C>A (p.Pro2033Thr)
|
rs375213868
|
|
NM_000435.3(NOTCH3):c.6102dup (p.Gly2035fs)
|
|
|
NM_000435.3(NOTCH3):c.6169C>T (p.Gln2057Ter)
|
rs2145382884
|
|
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.6201dup (p.Gly2068fs)
|
|
|
NM_000435.3(NOTCH3):c.6227G>T (p.Gly2076Val)
|
|
|
NM_000435.3(NOTCH3):c.6260C>G (p.Ala2087Gly)
|
rs2145382342
|
|
NM_000435.3(NOTCH3):c.6269del (p.Gly2090fs)
|
rs1011713833
|
|
NM_000435.3(NOTCH3):c.6287C>T (p.Ser2096Leu)
|
|
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NM_000435.3(NOTCH3):c.6323C>T (p.Pro2108Leu)
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|
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NM_000435.3(NOTCH3):c.6379T>A (p.Tyr2127Asn)
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|
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NM_000435.3(NOTCH3):c.6409C>G (p.Leu2137Val)
|
rs2046639059
|
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NM_000435.3(NOTCH3):c.6454C>G (p.Pro2152Ala)
|
rs2145381350
|
|
NM_000435.3(NOTCH3):c.6536C>T (p.Ala2179Val)
|
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NM_000435.3(NOTCH3):c.6559C>G (p.Leu2187Val)
|
rs969052177
|
|
NM_000435.3(NOTCH3):c.6578C>A (p.Pro2193His)
|
|
|
NM_000435.3(NOTCH3):c.6587_6592dup (p.Asn2197_Pro2198insLeuAsn)
|
|
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NM_000435.3(NOTCH3):c.6643C>A (p.Pro2215Thr)
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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)
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|
|
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.6905A>G (p.Gln2302Arg)
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NM_000435.3(NOTCH3):c.6928C>T (p.Gln2310Ter)
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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.740A>G (p.Asn247Ser)
|
|
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NM_000435.3(NOTCH3):c.742_743delinsAT (p.Gly248Met)
|
|
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NM_000435.3(NOTCH3):c.748dup (p.Thr250fs)
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|
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NM_000435.3(NOTCH3):c.763G>A (p.Val255Ile)
|
rs1160655218
|
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NM_000435.3(NOTCH3):c.77C>T (p.Ala26Val)
|
rs1329279009
|
|
NM_000435.3(NOTCH3):c.790C>T (p.Pro264Ser)
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NM_000435.3(NOTCH3):c.802+6C>G
|
|
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NM_000435.3(NOTCH3):c.827A>T (p.Asp276Val)
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|
|
NM_000435.3(NOTCH3):c.83C>G (p.Pro28Arg)
|
|
|
NM_000435.3(NOTCH3):c.924C>T (p.Gly308=)
|
rs1043995
|
|
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr)
|
rs1568361404
|
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