NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)
|
rs199947197
|
0.00009
|
NM_001199397.3(NEK1):c.481C>T (p.Arg161Ter)
|
rs202115635
|
0.00006
|
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter)
|
rs985064686
|
0.00004
|
NM_001199397.3(NEK1):c.379C>T (p.Arg127Ter)
|
rs387906890
|
0.00003
|
NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter)
|
rs371575563
|
0.00002
|
NM_001199397.3(NEK1):c.214+1G>A
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rs1049502301
|
0.00002
|
NM_001199397.3(NEK1):c.1129C>T (p.Gln377Ter)
|
rs1482234746
|
0.00001
|
NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter)
|
rs758677637
|
0.00001
|
NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter)
|
rs773156346
|
0.00001
|
NM_001199397.3(NEK1):c.2991_2992insG (p.Ser998fs)
|
rs763310804
|
0.00001
|
NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg)
|
rs1301705612
|
0.00001
|
NM_001199397.3(NEK1):c.869-1G>T
|
rs794727032
|
0.00001
|
NM_001199397.3(NEK1):c.1097_1098del (p.Arg366fs)
|
|
|
NM_001199397.3(NEK1):c.1177C>T (p.Gln393Ter)
|
|
|
NM_001199397.3(NEK1):c.1198del (p.Arg400fs)
|
|
|
NM_001199397.3(NEK1):c.1395G>A (p.Trp465Ter)
|
|
|
NM_001199397.3(NEK1):c.1583_1584dup (p.Glu529Ter)
|
rs1758763118
|
|
NM_001199397.3(NEK1):c.1606G>T (p.Glu536Ter)
|
|
|
NM_001199397.3(NEK1):c.1640dup (p.Asn547fs)
|
rs483352907
|
|
NM_001199397.3(NEK1):c.1690_1691del (p.Met564fs)
|
rs786205645
|
|
NM_001199397.3(NEK1):c.1769_1770del (p.Arg590fs)
|
rs1554053289
|
|
NM_001199397.3(NEK1):c.1868del (p.Ser623fs)
|
rs1362848762
|
|
NM_001199397.3(NEK1):c.1945_1951del (p.Lys648_Glu649insTer)
|
|
|
NM_001199397.3(NEK1):c.1984dup (p.Glu662fs)
|
rs2149690411
|
|
NM_001199397.3(NEK1):c.2010_2011del (p.Leu670fs)
|
|
|
NM_001199397.3(NEK1):c.2089C>T (p.Gln697Ter)
|
rs2149558070
|
|
NM_001199397.3(NEK1):c.213del (p.Glu72fs)
|
rs2150139071
|
|
NM_001199397.3(NEK1):c.2190del (p.Asn731fs)
|
rs746591648
|
|
NM_001199397.3(NEK1):c.2282_2283dup (p.Asp762fs)
|
|
|
NM_001199397.3(NEK1):c.2650_2651insCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTACAATGTA (p.Cys883_Ile884insThrCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysValGlnCys)
|
|
|
NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs)
|
rs752878896
|
|
NM_001199397.3(NEK1):c.2886-1G>A
|
rs773496891
|
|
NM_001199397.3(NEK1):c.2972_2973del (p.Ile991fs)
|
rs2111354717
|
|
NM_001199397.3(NEK1):c.3191C>G (p.Ser1064Ter)
|
rs2111335168
|
|
NM_001199397.3(NEK1):c.3337G>T (p.Glu1113Ter)
|
rs1732670701
|
|
NM_001199397.3(NEK1):c.3581C>A (p.Ser1194Ter)
|
|
|
NM_001199397.3(NEK1):c.3726del (p.Asp1243fs)
|
|
|
NM_001199397.3(NEK1):c.3830A>C (p.Asp1277Ala)
|
rs1157065841
|
|
NM_001199397.3(NEK1):c.433G>A (p.Gly145Arg)
|
rs431905508
|
|
NM_001199397.3(NEK1):c.514C>T (p.Pro172Ser)
|
rs1554075506
|
|
NM_001199397.3(NEK1):c.599_602del (p.Lys200fs)
|
rs1554075284
|
|
NM_001199397.3(NEK1):c.602del (p.His201fs)
|
rs2150079083
|
|
NM_001199397.3(NEK1):c.869-2A>G
|
rs483352906
|
|
NM_001199397.3(NEK1):c.934del (p.Ala312fs)
|
rs2150034070
|
|
NM_001199397.3(NEK1):c.984del (p.Lys328fs)
|
rs1432921892
|
|
NM_001199397.3(NEK1):c.[1226G>A];[1948del]
|
|
|