Unique variants in gene LAGE3

Information The variants shown are described using the NM_006014.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.120G>A r.(=) p.(=) g.153707135C>T Copied from the Exome Variant Server LAGE3_000020 1/9936 1/6361 0/3575
1 c.122A>C r.(?) p.(His41Pro) g.153707133T>G Copied from the Exome Variant Server LAGE3_000019 2/9971 0/6380 2/3591
1 c.124G>A r.(?) p.(Ala42Thr) g.153707131C>T Copied from the Exome Variant Server LAGE3_000018 1/9979 0/6391 1/3588
1 c.179C>T r.(?) p.(Pro60Leu) g.153707076G>A Copied from the Exome Variant Server LAGE3_000017 24/10150 21/6473 3/3677
1 c.189-34G>C r.(=) p.(=) g.153706784C>G Copied from the Exome Variant Server LAGE3_000016 249/10563 0/6728 249/3835
1 c.193C>A r.(?) p.(Leu65Ile) g.153706746G>T Copied from the Exome Variant Server LAGE3_000015 1/10563 1/6728 0/3835
1 c.213C>T r.(=) p.(=) g.153706726G>A Copied from the Exome Variant Server LAGE3_000014 1/10563 1/6728 0/3835
1 c.214C>T r.(?) p.(Pro72Ser) g.153706725G>A Copied from the Exome Variant Server LAGE3_000013 1/10563 0/6728 1/3835
1 c.230T>C r.(?) p.(Ile77Thr) g.153706709A>G Copied from the Exome Variant Server LAGE3_000012 1/10563 1/6728 0/3835
1 c.231C>T r.(=) p.(=) g.153706708G>A Copied from the Exome Variant Server LAGE3_000011 3/10563 0/6728 3/3835
1 c.317+29_317+30insG r.(=) p.(=) g.153706592_153706593insC Copied from the Exome Variant Server LAGE3_000010 3/10205 3/6484 0/3721
1 c.317+37C>G r.(=) p.(=) g.153706585G>C Copied from the Exome Variant Server LAGE3_000009 1/10563 0/6728 1/3835
1 c.348C>A r.(=) p.(=) g.153706367G>T Copied from the Exome Variant Server LAGE3_000008 2/10560 0/6727 2/3833
1 c.350G>A r.(?) p.(Arg117Gln) g.153706365C>T Copied from the Exome Variant Server LAGE3_000007 1/10560 1/6727 0/3833
1 c.363C>T r.(=) p.(=) g.153706352G>A Copied from the Exome Variant Server LAGE3_000006 1/10562 1/6728 0/3834
1 c.370C>T r.(?) p.(Leu124Phe) g.153706345G>A Copied from the Exome Variant Server LAGE3_000005 2/10563 2/6728 0/3835
1 c.421G>A r.(?) p.(Val141Ile) g.153706294C>T Copied from the Exome Variant Server LAGE3_000004 1/10563 0/6728 1/3835
1 c.422T>C r.(?) p.(Val141Ala) g.153706293A>G Copied from the Exome Variant Server LAGE3_000003 2/10563 2/6728 0/3835
1 c.*19G>C r.(=) p.(=) g.153706264C>G Copied from the Exome Variant Server LAGE3_000002 2408/10563 743/6728 1665/3835
1 c.*32C>T r.(=) p.(=) g.153706251G>A Copied from the Exome Variant Server LAGE3_000001 1/10561 1/6727 0/3834
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