Full data view for gene NKX2-1

Information The variants shown are described using the NM_003317.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.-771T>C r.(=) p.(=) g.36989333A>G Copied from the Exome Variant Server NKX2-1_000021 1/12412 1/8334 0/4078 - - - - - - -
?/? c.-763G>A r.(=) p.(=) g.36989325C>T Copied from the Exome Variant Server NKX2-1_000020 1/12352 1/8312 0/4040 - - - - - - -
?/? c.-744G>A r.(=) p.(=) g.36989306C>T Copied from the Exome Variant Server NKX2-1_000019 8/12258 8/8258 0/4000 - - - - - - -
?/? c.-61C>T r.(=) p.(=) g.36988623G>A Copied from the Exome Variant Server NKX2-1_000018 43/11556 37/7652 6/3904 - - - - - - -
?/? c.-37del r.(=) p.(=) g.36988599del Copied from the Exome Variant Server NKX2-1_000017 120/10800 63/7186 57/3614 - - - - - - -
?/? c.-37dup r.(=) p.(=) g.36988599dup Copied from the Exome Variant Server NKX2-1_000016 54/10800 33/7186 21/3614 - - - - - - -
?/? c.79G>A r.(?) p.(Val27Met) g.36988484C>T Copied from the Exome Variant Server NKX2-1_000015 1/12890 0/8526 1/4364 - - - - - - -
?/? c.100C>A r.(?) p.(Leu34Ile) g.36988463G>T Copied from the Exome Variant Server NKX2-1_000014 10/12852 0/8508 10/4344 - - - - - - -
?/? c.361C>T r.(?) p.(Arg121Cys) g.36988202G>A Copied from the Exome Variant Server NKX2-1_000013 1/12142 1/8196 0/3946 - - - - - - -
?/? c.373+49G>A r.(=) p.(=) g.36988141C>T Copied from the Exome Variant Server NKX2-1_000012 3/11354 2/7770 1/3584 - - - - - - -
?/? c.374-15G>A r.(=) p.(=) g.36987240C>T Copied from the Exome Variant Server NKX2-1_000011 2/12326 0/8146 2/4180 - - - - - - -
?/? c.591G>A r.(?) p.(Met197Ile) g.36987008C>T Copied from the Exome Variant Server NKX2-1_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.708_710del r.(?) p.(Gly241del) g.36986889_36986891del Copied from the Exome Variant Server NKX2-1_000009 118/11504 78/7608 40/3896 - - - - - - -
?/? c.715_723del r.(?) p.(Gly239_Gly241del) g.36986876_36986884del Copied from the Exome Variant Server NKX2-1_000008 27/10368 19/6878 8/3490 - - - - - - -
?/? c.748_750del r.(?) p.(Ala250del) g.36986849_36986851del Copied from the Exome Variant Server NKX2-1_000007 53/9714 17/6466 36/3248 - - - - - - -
?/? c.854_855del r.(?) p.(His285Argfs*123) g.36986744_36986745del Copied from the Exome Variant Server NKX2-1_000006 47/1544 26/922 21/622 - - - - - - -
?/? c.972A>T r.(=) p.(=) g.36986627T>A Copied from the Exome Variant Server NKX2-1_000005 1/12830 0/8480 1/4350 - - - - - - -
?/? c.1003G>T r.(?) p.(Ala335Ser) g.36986596C>A Copied from the Exome Variant Server NKX2-1_000004 33/12972 0/8586 33/4386 - - - - - - -
?/? c.1065G>C r.(=) p.(=) g.36986534C>G Copied from the Exome Variant Server NKX2-1_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1107G>A r.(=) p.(=) g.36986492C>T Copied from the Exome Variant Server NKX2-1_000002 2/13006 0/8600 2/4406 - - - - - - -
?/? c.*46C>G r.(=) p.(=) g.36986437G>C Copied from the Exome Variant Server NKX2-1_000001 3/12916 3/8562 0/4354 - - - - - - -
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