Full data view for gene ARX

Information The variants shown are described using the NM_139058.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.87C>T r.(=) p.(=) g.25033768G>A Copied from the Exome Variant Server ARX_000018 1/10561 1/6728 0/3833 - - - - - - -
?/? c.138C>A r.(=) p.(=) g.25033717G>T Copied from the Exome Variant Server ARX_000017 1/10559 0/6727 1/3832 - - - - - - -
?/? c.148T>C r.(=) p.(=) g.25033707A>G Copied from the Exome Variant Server ARX_000016 1/10559 0/6727 1/3832 - - - - - - -
?/? c.166A>G r.(?) p.(Ser56Gly) g.25033689T>C Copied from the Exome Variant Server ARX_000015 2/10561 0/6728 2/3833 - - - - - - -
?/? c.196+14C>G r.(=) p.(=) g.25033645G>C Copied from the Exome Variant Server ARX_000014 1/10560 1/6727 0/3833 - - - - - - -
?/? c.821T>C r.(?) p.(Val274Ala) g.25031291A>G Copied from the Exome Variant Server ARX_000013 2/9981 0/6328 2/3653 - - - - - - -
?/? c.855G>A r.(=) p.(=) g.25031257C>T Copied from the Exome Variant Server ARX_000012 3/10527 2/6705 1/3822 - - - - - - -
?/? c.904G>A r.(?) p.(Ala302Thr) g.25031208C>T Copied from the Exome Variant Server ARX_000011 1/10559 1/6727 0/3832 - - - - - - -
?/? c.1027C>T r.(=) p.(=) g.25031085G>A Copied from the Exome Variant Server ARX_000010 1/10557 1/6724 0/3833 - - - - - - -
?/? c.1074-36G>A r.(=) p.(=) g.25028458C>T Copied from the Exome Variant Server ARX_000009 1/10561 0/6728 1/3833 - - - - - - -
?/? c.1074-28C>A r.(=) p.(=) g.25028450G>T Copied from the Exome Variant Server ARX_000008 2/10561 2/6728 0/3833 - - - - - - -
?/? c.1074-3T>C r.spl? p.? g.25028425A>G Copied from the Exome Variant Server ARX_000007 49/10561 0/6728 49/3833 - - - - - - -
?/? c.1119+6C>T r.(=) p.(=) g.25028371G>A Copied from the Exome Variant Server ARX_000006 3/10561 2/6728 1/3833 - - - - - - -
?/? c.1119+63_1119+64del r.(=) p.(=) g.25028313_25028314del Copied from the Exome Variant Server ARX_000005 215/10177 144/6466 71/3711 - - - - - - -
?/? c.1318_1320del r.(?) p.(Ala440del) g.25025356_25025358del Copied from the Exome Variant Server ARX_000004 56/4407 37/3003 19/1404 - - - - - - -
?/? c.1347C>T r.(=) p.(=) g.25025329G>A Copied from the Exome Variant Server ARX_000003 132/8996 119/5988 13/3008 - - - - - - -
?/? c.1448+36_1448+39del r.(=) p.(=) g.25025189_25025192del Copied from the Exome Variant Server ARX_000002 257/9307 172/6126 85/3181 - - - - - - -
?/? c.1671G>A r.(=) p.(=) g.25022805C>T Copied from the Exome Variant Server ARX_000001 25/8985 25/5618 0/3367 - - - - - - -
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