NM_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu)
|
rs1570660422
|
0.00001
|
NM_024408.4(NOTCH2):c.1021dup (p.Asp341fs)
|
rs1553200134
|
|
NM_024408.4(NOTCH2):c.1211C>T (p.Pro404Leu)
|
rs2101145406
|
|
NM_024408.4(NOTCH2):c.1243G>A (p.Asp415Asn)
|
rs2101145278
|
|
NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr)
|
rs111033632
|
|
NM_024408.4(NOTCH2):c.1668C>A (p.Cys556Ter)
|
rs2101139955
|
|
NM_024408.4(NOTCH2):c.1835dup (p.Tyr612Ter)
|
rs1553199298
|
|
NM_024408.4(NOTCH2):c.1938del (p.Phe646fs)
|
|
|
NM_024408.4(NOTCH2):c.2235_2236del (p.Cys745_Asp746delinsTer)
|
rs2101122493
|
|
NM_024408.4(NOTCH2):c.30G>A (p.Trp10Ter)
|
rs782598895
|
|
NM_024408.4(NOTCH2):c.3246dup (p.Ala1083fs)
|
rs1553195973
|
|
NM_024408.4(NOTCH2):c.3415del (p.Leu1139fs)
|
rs1557812162
|
|
NM_024408.4(NOTCH2):c.3415dup (p.Leu1139fs)
|
rs1557812162
|
|
NM_024408.4(NOTCH2):c.4005+1G>A
|
rs1557807153
|
|
NM_024408.4(NOTCH2):c.4025_4027delinsTCT (p.Cys1342_Gln1343delinsPheTer)
|
rs2526149314
|
|
NM_024408.4(NOTCH2):c.4174C>T (p.Gln1392Ter)
|
rs1649449471
|
|
NM_024408.4(NOTCH2):c.4457del (p.Thr1486fs)
|
rs1064793660
|
|
NM_024408.4(NOTCH2):c.4593dup (p.Leu1532fs)
|
rs2526141876
|
|
NM_024408.4(NOTCH2):c.4810_4811del (p.Arg1604fs)
|
rs2526140861
|
|
NM_024408.4(NOTCH2):c.5123_5132delinsAGA (p.Ser1708_Leu1711delinsTer)
|
rs1649314295
|
|
NM_024408.4(NOTCH2):c.5274G>A (p.Trp1758Ter)
|
rs1553194093
|
|
NM_024408.4(NOTCH2):c.5345del (p.Asp1782fs)
|
rs1553193977
|
|
NM_024408.4(NOTCH2):c.5356C>T (p.Arg1786Ter)
|
rs1435723160
|
|
NM_024408.4(NOTCH2):c.5644C>T (p.His1882Tyr)
|
rs1570658378
|
|
NM_024408.4(NOTCH2):c.5664dup (p.Arg1889fs)
|
rs927740391
|
|
NM_024408.4(NOTCH2):c.5842del (p.Pro1947_Leu1948insTer)
|
|
|
NM_024408.4(NOTCH2):c.5843del (p.Leu1948fs)
|
rs1557803353
|
|
NM_024408.4(NOTCH2):c.5930-1G>A
|
rs312262798
|
|
NM_024408.4(NOTCH2):c.5930-2A>G
|
rs2526112913
|
|
NM_024408.4(NOTCH2):c.5983_5984del (p.Leu1995fs)
|
rs1649134213
|
|
NM_024408.4(NOTCH2):c.5987T>A (p.Leu1996Ter)
|
rs2526112692
|
|
NM_024408.4(NOTCH2):c.6007C>T (p.Arg2003Ter)
|
rs312262801
|
|
NM_024408.4(NOTCH2):c.6106C>T (p.Arg2036Ter)
|
rs2101145073
|
|
NM_024408.4(NOTCH2):c.6125T>C (p.Met2042Thr)
|
rs1649084282
|
|
NM_024408.4(NOTCH2):c.6272del (p.Phe2091fs)
|
rs1557802353
|
|
NM_024408.4(NOTCH2):c.6343del (p.Ser2115fs)
|
rs2526107620
|
|
NM_024408.4(NOTCH2):c.6403_6404del (p.Leu2135fs)
|
rs1649067817
|
|
NM_024408.4(NOTCH2):c.6424_6427del (p.Ser2142fs)
|
rs1064793515
|
|
NM_024408.4(NOTCH2):c.6426_6427insTT (p.Glu2143fs)
|
rs1649066485
|
|
NM_024408.4(NOTCH2):c.6449_6450del (p.Pro2150fs)
|
rs1553193574
|
|
NM_024408.4(NOTCH2):c.6503del (p.Pro2168fs)
|
rs1557802165
|
|
NM_024408.4(NOTCH2):c.6622C>T (p.Gln2208Ter)
|
rs387906746
|
|
NM_024408.4(NOTCH2):c.6659C>G (p.Ser2220Ter)
|
rs886041979
|
|
NM_024408.4(NOTCH2):c.6667C>T (p.Gln2223Ter)
|
rs2526105966
|
|
NM_024408.4(NOTCH2):c.6758G>A (p.Trp2253Ter)
|
rs1553193524
|
|
NM_024408.4(NOTCH2):c.6787C>T (p.Gln2263Ter)
|
rs886041862
|
|
NM_024408.4(NOTCH2):c.6832dup (p.Thr2278fs)
|
rs2101142928
|
|
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter)
|
rs1553193507
|
|
NM_024408.4(NOTCH2):c.6877del (p.His2293fs)
|
rs1649047546
|
|
NM_024408.4(NOTCH2):c.6895G>T (p.Glu2299Ter)
|
rs387906748
|
|
NM_024408.4(NOTCH2):c.6909del (p.Ile2304fs)
|
rs771237928
|
|
NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs)
|
rs771237928
|
|
NM_024408.4(NOTCH2):c.6949C>T (p.Gln2317Ter)
|
rs387906747
|
|
NM_024408.4(NOTCH2):c.7021C>T (p.Gln2341Ter)
|
rs2526104121
|
|
NM_024408.4(NOTCH2):c.7030G>T (p.Glu2344Ter)
|
rs2101142159
|
|
NM_024408.4(NOTCH2):c.7078C>T (p.Gln2360Ter)
|
rs1553193485
|
|
NM_024408.4(NOTCH2):c.7090del (p.Gln2364fs)
|
rs1649037695
|
|
NM_024408.4(NOTCH2):c.7099C>T (p.Gln2367Ter)
|
rs2101141863
|
|
NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter)
|
rs1557801639
|
|
NM_024408.4(NOTCH2):c.7165C>T (p.Gln2389Ter)
|
rs387906749
|
|
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter)
|
rs1325403451
|
|
NM_024408.4(NOTCH2):c.901G>T (p.Glu301Ter)
|
rs2526313922
|
|
NOTCH2, 1-BP DEL, 6460T
|
|
|