All transcript variants in gene SPANXN2

Information The variants shown are described using the NM_001009615.1 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-30A>G r.(=) p.(=) g.142803792T>C Copied from the Exome Variant Server SPANXN2_000018 2/10563 2/6728 0/3835
?/? c.12G>C r.(=) p.(=) g.142803751C>G Copied from the Exome Variant Server SPANXN2_000017 467/10563 0/6728 467/3835
?/? c.18A>C r.(=) p.(=) g.142803745T>G Copied from the Exome Variant Server SPANXN2_000016 1/10563 1/6728 0/3835
?/? c.23C>T r.(?) p.(Thr8Ile) g.142803740G>A Copied from the Exome Variant Server SPANXN2_000015 541/10563 0/6728 541/3835
?/? c.71del r.(?) p.(Asn24Metfs*12) g.142803692del Copied from the Exome Variant Server SPANXN2_000014 122/10205 105/6484 17/3721
?/? c.71dup r.(?) p.(Asn24Lysfs*2) g.142803692dup Copied from the Exome Variant Server SPANXN2_000013 1/10205 1/6484 0/3721
?/? c.78+7T>C r.(=) p.(=) g.142803678A>G Copied from the Exome Variant Server SPANXN2_000012 1/10563 0/6728 1/3835
?/? c.78+22G>A r.(=) p.(=) g.142803663C>T Copied from the Exome Variant Server SPANXN2_000011 1/10563 1/6728 0/3835
?/? c.79-48A>C r.(=) p.(=) g.142795647T>G Copied from the Exome Variant Server SPANXN2_000010 1/10556 1/6725 0/3831
?/? c.79-43C>T r.(=) p.(=) g.142795642G>A Copied from the Exome Variant Server SPANXN2_000009 1/10561 1/6728 0/3833
?/? c.79-24G>A r.(=) p.(=) g.142795623C>T Copied from the Exome Variant Server SPANXN2_000008 1/10563 1/6728 0/3835
?/? c.79-13G>T r.(=) p.(=) g.142795612C>A Copied from the Exome Variant Server SPANXN2_000025 417/10563 10/6728 407/3835
?/? c.148C>T r.(=) p.(=) g.142795530G>A Copied from the Exome Variant Server SPANXN2_000024 7/10563 7/6728 0/3835
?/? c.157del r.(?) p.(Ile53*) g.142795521del Copied from the Exome Variant Server SPANXN2_000023 68/10192 40/6474 28/3718
?/? c.160G>C r.(?) p.(Val54Leu) g.142795518C>G Copied from the Exome Variant Server SPANXN2_000022 2/10563 2/6728 0/3835
?/? c.182C>T r.(?) p.(Thr61Met) g.142795496G>A Copied from the Exome Variant Server SPANXN2_000021 14/10563 14/6728 0/3835
?/? c.240C>A r.(=) p.(=) g.142795438G>T Copied from the Exome Variant Server SPANXN2_000020 2393/10563 796/6728 1597/3835
?/? c.258C>T r.(=) p.(=) g.142795420G>A Copied from the Exome Variant Server SPANXN2_000019 8/10563 8/6728 0/3835
?/? c.294_296del r.(?) p.(Glu98del) g.142795382_142795384del Copied from the Exome Variant Server SPANXN2_000007 5/10203 0/6482 5/3721
?/? c.411_413del r.(?) p.(Glu137del) g.142795265_142795267del Copied from the Exome Variant Server SPANXN2_000006 4/9710 1/6203 3/3507
?/? c.453C>T r.(=) p.(=) g.142795225G>A Copied from the Exome Variant Server SPANXN2_000005 5986/10563 3717/6728 2269/3835
?/? c.492C>T r.(=) p.(=) g.142795186G>A Copied from the Exome Variant Server SPANXN2_000004 4/10563 3/6728 1/3835
?/? c.524A>G r.(?) p.(Gln175Arg) g.142795154T>C Copied from the Exome Variant Server SPANXN2_000003 1/10563 1/6728 0/3835
?/? c.*2C>A r.(=) p.(=) g.142795133G>T Copied from the Exome Variant Server SPANXN2_000002 2/10563 0/6728 2/3835
?/? c.*47G>A r.(=) p.(=) g.142795088C>T Copied from the Exome Variant Server SPANXN2_000001 1/10563 1/6728 0/3835
Legend