Full data view for gene NAP1L3

Information The variants shown are described using the NM_004538.5 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-36G>A r.(=) p.(=) g.92928339C>T Copied from the Exome Variant Server NAP1L3_000050 1/10545 0/6711 1/3834 - - - - - - -
?/? c.-20A>G r.(=) p.(=) g.92928323T>C Copied from the Exome Variant Server NAP1L3_000049 2/10561 1/6727 1/3834 - - - - - - -
?/? c.91del r.(?) p.(Glu31Lysfs*91) g.92928213del Copied from the Exome Variant Server NAP1L3_000048 58/10203 38/6484 20/3719 - - - - - - -
?/? c.113C>T r.(?) p.(Ser38Phe) g.92928191G>A Copied from the Exome Variant Server NAP1L3_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.131A>G r.(?) p.(Asp44Gly) g.92928173T>C Copied from the Exome Variant Server NAP1L3_000046 2/10562 2/6728 0/3834 - - - - - - -
?/? c.146G>A r.(?) p.(Ser49Asn) g.92928158C>T Copied from the Exome Variant Server NAP1L3_000045 1/10542 0/6713 1/3829 - - - - - - -
?/? c.149_151del r.(?) p.(Ser50del) g.92928153_92928155del Copied from the Exome Variant Server NAP1L3_000044 579/10122 387/6421 192/3701 - - - - - - -
?/? c.163_168del r.(?) p.(Ser55_Ser56del) g.92928136_92928141del Copied from the Exome Variant Server NAP1L3_000043 516/9475 292/5972 224/3503 - - - - - - -
?/? c.163_168dup r.(?) p.(Ser55_Ser56dup) g.92928136_92928141dup Copied from the Exome Variant Server NAP1L3_000042 60/9475 37/5972 23/3503 - - - - - - -
?/? c.169_189del r.(?) p.(Gly57_Ser63del) g.92928115_92928135del Copied from the Exome Variant Server NAP1L3_000041 399/8074 232/5143 167/2931 - - - - - - -
?/? c.190_192del r.(?) p.(Ser65del) g.92928112_92928114del Copied from the Exome Variant Server NAP1L3_000040 303/7721 223/4965 80/2756 - - - - - - -
?/? c.190_195del r.(?) p.(Ser64_Ser65del) g.92928109_92928114del Copied from the Exome Variant Server NAP1L3_000039 80/7721 41/4965 39/2756 - - - - - - -
?/? c.190_195dup r.(?) p.(Ser64_Ser65dup) g.92928109_92928114dup Copied from the Exome Variant Server NAP1L3_000038 20/7721 13/4965 7/2756 - - - - - - -
?/? c.197G>T r.(?) p.(Gly66Val) g.92928107C>A Copied from the Exome Variant Server NAP1L3_000037 81/9304 0/5910 81/3394 - - - - - - -
?/? c.175_201del r.(?) p.(Gly59_Ser67del) g.92928103_92928129del Copied from the Exome Variant Server NAP1L3_000036 112/7607 38/4900 74/2707 - - - - - - -
?/? c.223T>C r.(?) p.(Tyr75His) g.92928081A>G Copied from the Exome Variant Server NAP1L3_000035 1/10544 0/6713 1/3831 - - - - - - -
?/? c.224A>G r.(?) p.(Tyr75Cys) g.92928080T>C Copied from the Exome Variant Server NAP1L3_000034 1/10547 0/6714 1/3833 - - - - - - -
?/? c.307G>A r.(?) p.(Ala103Thr) g.92927997C>T Copied from the Exome Variant Server NAP1L3_000033 1/10561 1/6726 0/3835 - - - - - - -
?/? c.330G>T r.(=) p.(=) g.92927974C>A Copied from the Exome Variant Server NAP1L3_000032 1/10563 0/6728 1/3835 - - - - - - -
?/? c.369C>T r.(=) p.(=) g.92927935G>A Copied from the Exome Variant Server NAP1L3_000031 1/10563 1/6728 0/3835 - - - - - - -
?/? c.372G>A r.(=) p.(=) g.92927932C>T Copied from the Exome Variant Server NAP1L3_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.472A>G r.(?) p.(Thr158Ala) g.92927832T>C Copied from the Exome Variant Server NAP1L3_000029 4/10563 0/6728 4/3835 - - - - - - -
?/? c.504T>C r.(=) p.(=) g.92927800A>G Copied from the Exome Variant Server NAP1L3_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.542C>T r.(?) p.(Thr181Ile) g.92927762G>A Copied from the Exome Variant Server NAP1L3_000027 1/10563 0/6728 1/3835 - - - - - - -
?/? c.554T>C r.(?) p.(Met185Thr) g.92927750A>G Copied from the Exome Variant Server NAP1L3_000026 1/10563 0/6728 1/3835 - - - - - - -
?/? c.561C>T r.(=) p.(=) g.92927743G>A Copied from the Exome Variant Server NAP1L3_000025 1/10563 0/6728 1/3835 - - - - - - -
?/? c.670C>G r.(?) p.(Pro224Ala) g.92927634G>C Copied from the Exome Variant Server NAP1L3_000024 6458/10563 4341/6728 2117/3835 - - - - - - -
?/? c.750_752del r.(?) p.(Glu250del) g.92927552_92927554del Copied from the Exome Variant Server NAP1L3_000023 6/10205 4/6484 2/3721 - - - - - - -
?/? c.780A>C r.(=) p.(=) g.92927524T>G Copied from the Exome Variant Server NAP1L3_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.806C>T r.(?) p.(Thr269Ile) g.92927498G>A Copied from the Exome Variant Server NAP1L3_000021 2/10563 0/6728 2/3835 - - - - - - -
?/? c.807A>G r.(=) p.(=) g.92927497T>C Copied from the Exome Variant Server NAP1L3_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.822G>A r.(=) p.(=) g.92927482C>T Copied from the Exome Variant Server NAP1L3_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.830T>C r.(?) p.(Val277Ala) g.92927474A>G Copied from the Exome Variant Server NAP1L3_000018 1/10563 1/6728 0/3835 - - - - - - -
?/? c.839C>T r.(?) p.(Thr280Ile) g.92927465G>A Copied from the Exome Variant Server NAP1L3_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.855T>C r.(=) p.(=) g.92927449A>G Copied from the Exome Variant Server NAP1L3_000016 3/10563 0/6728 3/3835 - - - - - - -
?/? c.864G>A r.(=) p.(=) g.92927440C>T Copied from the Exome Variant Server NAP1L3_000015 1/10563 0/6728 1/3835 - - - - - - -
?/? c.873C>T r.(=) p.(=) g.92927431G>A Copied from the Exome Variant Server NAP1L3_000014 2/10563 0/6728 2/3835 - - - - - - -
?/? c.881A>G r.(?) p.(Asp294Gly) g.92927423T>C Copied from the Exome Variant Server NAP1L3_000013 1/10563 0/6728 1/3835 - - - - - - -
?/? c.915A>C r.(?) p.(Arg305Ser) g.92927389T>G Copied from the Exome Variant Server NAP1L3_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.926A>G r.(?) p.(Lys309Arg) g.92927378T>C Copied from the Exome Variant Server NAP1L3_000011 30/10563 27/6728 3/3835 - - - - - - -
?/? c.975C>T r.(=) p.(=) g.92927329G>A Copied from the Exome Variant Server NAP1L3_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.981T>C r.(=) p.(=) g.92927323A>G Copied from the Exome Variant Server NAP1L3_000009 2/10562 2/6727 0/3835 - - - - - - -
?/? c.993G>C r.(?) p.(Lys331Asn) g.92927311C>G Copied from the Exome Variant Server NAP1L3_000008 6/10563 0/6728 6/3835 - - - - - - -
?/? c.1005C>G r.(=) p.(=) g.92927299G>C Copied from the Exome Variant Server NAP1L3_000007 68/10563 1/6728 67/3835 - - - - - - -
?/? c.1022C>T r.(?) p.(Ser341Leu) g.92927282G>A Copied from the Exome Variant Server NAP1L3_000006 9/10563 0/6728 9/3835 - - - - - - -
?/? c.1416A>G r.(=) p.(=) g.92926888T>C Copied from the Exome Variant Server NAP1L3_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1457G>C r.(?) p.(Gly486Ala) g.92926847C>G Copied from the Exome Variant Server NAP1L3_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1478A>G r.(?) p.(Tyr493Cys) g.92926826T>C Copied from the Exome Variant Server NAP1L3_000003 17/10561 0/6728 17/3833 - - - - - - -
?/? c.1503C>T r.(=) p.(=) g.92926801G>A Copied from the Exome Variant Server NAP1L3_000002 1/10559 1/6726 0/3833 - - - - - - -
?/? c.*48G>A r.(=) p.(=) g.92926735C>T Copied from the Exome Variant Server NAP1L3_000001 1/10528 1/6701 0/3827 - - - - - - -
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