Unique variants in gene SPANXN3

Information The variants shown are described using the NM_001009609.2 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.-61A>G r.(=) p.(=) g.142605280T>C Copied from the Exome Variant Server SPANXN3_000021 2/3600 2/2391 0/1209
1 c.-48T>G r.(=) p.(=) g.142605267A>C Copied from the Exome Variant Server SPANXN3_000020 2/10563 0/6728 2/3835
1 c.1A>C r.? p.? g.142605219T>G Copied from the Exome Variant Server SPANXN3_000019 1/10563 1/6728 0/3835
1 c.2T>C r.? p.? g.142605218A>G Copied from the Exome Variant Server SPANXN3_000018 1/10563 1/6728 0/3835
1 c.17C>T r.(?) p.(Ser6Phe) g.142605203G>A Copied from the Exome Variant Server SPANXN3_000017 8/10563 0/6728 8/3835
1 c.28G>A r.(?) p.(Gly10Arg) g.142605192C>T Copied from the Exome Variant Server SPANXN3_000016 1/10563 1/6728 0/3835
1 c.31G>A r.(?) p.(Glu11Lys) g.142605189C>T Copied from the Exome Variant Server SPANXN3_000015 2/10563 2/6728 0/3835
1 c.39G>A r.(=) p.(=) g.142605181C>T Copied from the Exome Variant Server SPANXN3_000014 2/10563 1/6728 1/3835
1 c.60T>C r.(=) p.(=) g.142605160A>G Copied from the Exome Variant Server SPANXN3_000013 1/10563 0/6728 1/3835
1 c.68A>C r.(?) p.(Lys23Thr) g.142605152T>G Copied from the Exome Variant Server SPANXN3_000012 9/10563 0/6728 9/3835
1 c.75T>C r.(=) p.(=) g.142605145A>G Copied from the Exome Variant Server SPANXN3_000011 1/10563 1/6728 0/3835
1 c.78+14_78+17del r.(=) p.(=) g.142605125_142605128del Copied from the Exome Variant Server SPANXN3_000010 1/10205 1/6484 0/3721
1 c.78+30G>A r.(=) p.(=) g.142605112C>T Copied from the Exome Variant Server SPANXN3_000009 1/10563 1/6728 0/3835
1 c.78+32G>T r.(=) p.(=) g.142605110C>A Copied from the Exome Variant Server SPANXN3_000008 1/10563 1/6728 0/3835
1 c.79-52T>C r.(=) p.(=) g.142597043A>G Copied from the Exome Variant Server SPANXN3_000007 121/6026 75/3613 46/2413
1 c.79-13A>G r.(=) p.(=) g.142597004T>C Copied from the Exome Variant Server SPANXN3_000006 3/10563 3/6728 0/3835
1 c.79A>T r.(?) p.(Met27Leu) g.142596991T>A Copied from the Exome Variant Server SPANXN3_000005 1/10562 1/6727 0/3835
1 c.90A>G r.(=) p.(=) g.142596980T>C Copied from the Exome Variant Server SPANXN3_000004 1/10563 0/6728 1/3835
1 c.111C>T r.(=) p.(=) g.142596959G>A Copied from the Exome Variant Server SPANXN3_000003 6/10563 0/6728 6/3835
1 c.129G>C r.(?) p.(Lys43Asn) g.142596941C>G Copied from the Exome Variant Server SPANXN3_000002 1523/10563 731/6728 792/3835
1 c.131C>T r.(?) p.(Thr44Ile) g.142596939G>A Copied from the Exome Variant Server SPANXN3_000001 1/10563 1/6728 0/3835
1 c.133A>G r.(?) p.(Lys45Glu) g.142596937T>C Copied from the Exome Variant Server SPANXN3_000023 1/10563 1/6728 0/3835
1 c.150A>G r.(=) p.(=) g.142596920T>C Copied from the Exome Variant Server SPANXN3_000022 1/10563 1/6728 0/3835
1 c.258C>T r.(=) p.(=) g.142596812G>A Copied from the Exome Variant Server SPANXN3_000030 2/10563 0/6728 2/3835
1 c.265G>A r.(?) p.(Val89Ile) g.142596805C>T Copied from the Exome Variant Server SPANXN3_000029 361/10563 5/6728 356/3835
1 c.270C>T r.(=) p.(=) g.142596800G>A Copied from the Exome Variant Server SPANXN3_000028 1/10563 1/6728 0/3835
1 c.318A>G r.(=) p.(=) g.142596752T>C Copied from the Exome Variant Server SPANXN3_000027 19/10563 0/6728 19/3835
1 c.360A>T r.(=) p.(=) g.142596710T>A Copied from the Exome Variant Server SPANXN3_000026 1/10563 1/6728 0/3835
1 c.418del r.(?) p.(Glu140Argfs*30) g.142596652del Copied from the Exome Variant Server SPANXN3_000025 2/10205 2/6484 0/3721
1 c.*8T>C r.(=) p.(=) g.142596636A>G Copied from the Exome Variant Server SPANXN3_000024 2/10563 2/6728 0/3835
1 c.*17C>A r.(=) p.(=) g.142596627G>T Copied from the Exome Variant Server SPANXN3_000032 1/10563 0/6728 1/3835
1 c.*46C>T r.(=) p.(=) g.142596598G>A Copied from the Exome Variant Server SPANXN3_000031 1/10563 0/6728 1/3835
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