Unique variants in gene SPANXN4

Information The variants shown are described using the NM_001009613.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.20G>A r.(?) p.(Ser7Asn) g.142113820G>A Copied from the Exome Variant Server SPANXN4_000014 1/10506 1/6708 0/3798
1 c.61_65del r.(?) p.(Arg22Serfs*2) g.142113861_142113865del Copied from the Exome Variant Server SPANXN4_000015 1/10188 0/6472 1/3716
1 c.78+9G>A r.(=) p.(=) g.142113887G>A Copied from the Exome Variant Server SPANXN4_000011 7/10560 5/6728 2/3832
1 c.78+48C>T r.(=) p.(=) g.142113926C>T Copied from the Exome Variant Server SPANXN4_000012 1/10549 1/6718 0/3831
1 c.79-13_79-12insT r.(=) p.(=) g.142121798_142121799insT Copied from the Exome Variant Server SPANXN4_000013 6/9134 5/6085 1/3049
1 c.79-2_79del N/A N/A g.142121809_142121811del Copied from the Exome Variant Server SPANXN4_000001 293/9121 265/6093 28/3028
1 c.87G>A r.(=) p.(=) g.142121819G>A Copied from the Exome Variant Server SPANXN4_000002 11/9539 11/6362 0/3177
1 c.92T>C r.(?) p.(Leu31Pro) g.142121824T>C Copied from the Exome Variant Server SPANXN4_000003 4/9546 4/6370 0/3176
1 c.100G>A r.(?) p.(Ala34Thr) g.142121832G>A Copied from the Exome Variant Server SPANXN4_000004 2/9547 2/6374 0/3173
1 c.129G>C r.(?) p.(Glu43Asp) g.142121861G>C Copied from the Exome Variant Server SPANXN4_000005 1/9542 1/6384 0/3158
1 c.144A>T r.(?) p.(Lys48Asn) g.142121876A>T Copied from the Exome Variant Server SPANXN4_000006 401/9561 2/6402 399/3159
1 c.159G>A r.(=) p.(=) g.142121891G>A Copied from the Exome Variant Server SPANXN4_000007 43/9585 2/6403 41/3182
1 c.185G>T r.(?) p.(Arg62Ile) g.142121917G>T Copied from the Exome Variant Server SPANXN4_000008 1/9637 1/6424 0/3213
1 c.*12C>A r.(=) p.(=) g.142122044C>A Copied from the Exome Variant Server SPANXN4_000009 1/10259 1/6551 0/3708
1 c.*26T>G r.(=) p.(=) g.142122058T>G Copied from the Exome Variant Server SPANXN4_000010 3583/10233 2068/6544 1515/3689
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