Unique variants in gene NXNL2

Information The variants shown are described using the NM_145283.2 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.99C>T r.(=) p.(=) g.91150448C>T Copied from the Exome Variant Server NXNL2_000001 11/12986 11/8592 0/4394
1 c.137C>T r.(?) p.(Pro46Leu) g.91150486C>T Copied from the Exome Variant Server NXNL2_000002 21/12930 0/8562 21/4368
1 c.148G>T r.(?) p.(Asp50Tyr) g.91150497G>T Copied from the Exome Variant Server NXNL2_000003 1/12948 1/8566 0/4382
1 c.197A>C r.(?) p.(Glu66Ala) g.91150546A>C Copied from the Exome Variant Server NXNL2_000004 1/12878 0/8540 1/4338
1 c.241G>C r.(?) p.(Asp81His) g.91150590G>C Copied from the Exome Variant Server NXNL2_000005 2/12838 0/8528 2/4310
1 c.248T>A r.(?) p.(Met83Lys) g.91150597T>A Copied from the Exome Variant Server NXNL2_000006 1/12828 1/8522 0/4306
1 c.250C>G r.(?) p.(Arg84Gly) g.91150599C>G Copied from the Exome Variant Server NXNL2_000007 1/12790 1/8504 0/4286
1 c.254A>T r.(?) p.(Glu85Val) g.91150603A>T Copied from the Exome Variant Server NXNL2_000008 2/12732 2/8480 0/4252
1 c.257T>C r.(?) p.(Leu86Pro) g.91150606T>C Copied from the Exome Variant Server NXNL2_000009 1/12714 1/8476 0/4238
1 c.298C>A r.(=) p.(=) g.91150647C>A Copied from the Exome Variant Server NXNL2_000010 1/11444 1/7712 0/3732
1 c.302+31G>T r.(=) p.(=) g.91150682G>T Copied from the Exome Variant Server NXNL2_000011 1/10414 1/7186 0/3228
1 c.302+39C>T r.(=) p.(=) g.91150690C>T Copied from the Exome Variant Server NXNL2_000012 1/10382 0/7170 1/3212
1 c.302+8626A>G r.(=) p.(=) g.91159277A>G Copied from the Exome Variant Server NXNL2_000013 1/4566 0/3182 1/1384
1 c.302+8690T>C r.(=) p.(=) g.91159341T>C Copied from the Exome Variant Server NXNL2_000014 2/4566 2/3182 0/1384
1 c.302+8715C>T r.(=) p.(=) g.91159366C>T Copied from the Exome Variant Server NXNL2_000015 1/4566 0/3182 1/1384
1 c.302+8741G>A r.(=) p.(=) g.91159392G>A Copied from the Exome Variant Server NXNL2_000016 94/4566 0/3182 94/1384
1 c.302+8751G>A r.(=) p.(=) g.91159402G>A Copied from the Exome Variant Server NXNL2_000017 2/4566 2/3182 0/1384
1 c.302+8756C>A r.(=) p.(=) g.91159407C>A Copied from the Exome Variant Server NXNL2_000018 1/4566 1/3182 0/1384
1 c.302+16428C>A r.(=) p.(=) g.91167079C>A Copied from the Exome Variant Server NXNL2_000019 3/4566 3/3182 0/1384
1 c.302+16469G>A r.(=) p.(=) g.91167120G>A Copied from the Exome Variant Server NXNL2_000020 59/4566 54/3182 5/1384
1 c.302+16525A>G r.(=) p.(=) g.91167176A>G Copied from the Exome Variant Server NXNL2_000021 1/4566 0/3182 1/1384
1 c.302+16548T>C r.(=) p.(=) g.91167199T>C Copied from the Exome Variant Server NXNL2_000022 1/4566 1/3182 0/1384
1 c.302+16566A>G r.(=) p.(=) g.91167217A>G Copied from the Exome Variant Server NXNL2_000023 1/4566 1/3182 0/1384
1 c.302+16570del r.(=) p.(=) g.91167221del Copied from the Exome Variant Server NXNL2_000024 5/6080 5/4080 0/2000
1 c.302+16576G>A r.(=) p.(=) g.91167227G>A Copied from the Exome Variant Server NXNL2_000025 13/4566 12/3182 1/1384
1 c.303-17551C>T r.(=) p.(=) g.91168451C>T Copied from the Exome Variant Server NXNL2_000026 5/4566 0/3182 5/1384
1 c.303-17539T>C r.(=) p.(=) g.91168463T>C Copied from the Exome Variant Server NXNL2_000027 105/4566 6/3182 99/1384
1 c.303-17362A>G r.(=) p.(=) g.91168640A>G Copied from the Exome Variant Server NXNL2_000028 1/4566 1/3182 0/1384
1 c.303-17305T>C r.(=) p.(=) g.91168697T>C Copied from the Exome Variant Server NXNL2_000029 1/4566 0/3182 1/1384
1 c.303-17303_303-17302insT r.(=) p.(=) g.91168699_91168700insT Copied from the Exome Variant Server NXNL2_000030 5/5696 3/3844 2/1852
1 c.303-15del r.(=) p.(=) g.91185987del Copied from the Exome Variant Server NXNL2_000032 158/2048 103/1248 55/800
1 c.303-15dup r.(=) p.(=) g.91185987dup Copied from the Exome Variant Server NXNL2_000031 325/2048 197/1248 128/800
1 c.304del r.(?) p.(Arg102Glyfs*14) g.91186003del Copied from the Exome Variant Server NXNL2_000033 11/2454 7/1486 4/968
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