Full data view for gene ATXN3L

Information The variants shown are described using the NM_001135995.1 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.-35C>T r.(=) p.(=) g.13338088G>A Copied from the Exome Variant Server ATXN3L_000033 56/8122 0/5495 56/2627 - - - - - - -
?/? c.-14C>T r.(=) p.(=) g.13338067G>A Copied from the Exome Variant Server ATXN3L_000032 1/8125 1/5498 0/2627 - - - - - - -
?/? c.-1C>T r.(=) p.(=) g.13338054G>A Copied from the Exome Variant Server ATXN3L_000031 2/8125 0/5498 2/2627 - - - - - - -
?/? c.76G>T r.(?) p.(Glu26*) g.13337978C>A Copied from the Exome Variant Server ATXN3L_000030 11/8125 11/5498 0/2627 - - - - - - -
?/? c.82T>C r.(?) p.(Phe28Leu) g.13337972A>G Copied from the Exome Variant Server ATXN3L_000029 1/8125 0/5498 1/2627 - - - - - - -
?/? c.177T>C r.(=) p.(=) g.13337877A>G Copied from the Exome Variant Server ATXN3L_000028 1/8125 1/5498 0/2627 - - - - - - -
?/? c.298C>G r.(?) p.(Gln100Glu) g.13337756G>C Copied from the Exome Variant Server ATXN3L_000027 2/8125 0/5498 2/2627 - - - - - - -
?/? c.306C>T r.(=) p.(=) g.13337748G>A Copied from the Exome Variant Server ATXN3L_000026 1/8125 0/5498 1/2627 - - - - - - -
?/? c.307G>A r.(?) p.(Gly103Ser) g.13337747C>T Copied from the Exome Variant Server ATXN3L_000025 1/8125 1/5498 0/2627 - - - - - - -
?/? c.364A>G r.(?) p.(Thr122Ala) g.13337690T>C Copied from the Exome Variant Server ATXN3L_000024 1/8123 0/5496 1/2627 - - - - - - -
?/? c.413C>T r.(?) p.(Ala138Val) g.13337641G>A Copied from the Exome Variant Server ATXN3L_000023 4/8125 0/5498 4/2627 - - - - - - -
?/? c.425_428del r.(?) p.(Leu142Tyrfs*54) g.13337626_13337629del Copied from the Exome Variant Server ATXN3L_000022 1/9904 1/6385 0/3519 - - - - - - -
?/? c.440G>A r.(?) p.(Cys147Tyr) g.13337614C>T Copied from the Exome Variant Server ATXN3L_000021 1/8125 1/5498 0/2627 - - - - - - -
?/? c.461G>A r.(?) p.(Arg154Gln) g.13337593C>T Copied from the Exome Variant Server ATXN3L_000020 1/8125 1/5498 0/2627 - - - - - - -
?/? c.491T>C r.(?) p.(Val164Ala) g.13337563A>G Copied from the Exome Variant Server ATXN3L_000019 13/8125 0/5498 13/2627 - - - - - - -
?/? c.550G>A r.(?) p.(Glu184Lys) g.13337504C>T Copied from the Exome Variant Server ATXN3L_000018 1/8125 1/5498 0/2627 - - - - - - -
?/? c.565C>T r.(?) p.(Pro189Ser) g.13337489G>A Copied from the Exome Variant Server ATXN3L_000017 1/8125 1/5498 0/2627 - - - - - - -
?/? c.743G>A r.(?) p.(Arg248His) g.13337311C>T Copied from the Exome Variant Server ATXN3L_000016 1/8125 1/5498 0/2627 - - - - - - -
?/? c.763A>G r.(?) p.(Met255Val) g.13337291T>C Copied from the Exome Variant Server ATXN3L_000015 1/8125 1/5498 0/2627 - - - - - - -
?/? c.796C>T r.(?) p.(Leu266Phe) g.13337258G>A Copied from the Exome Variant Server ATXN3L_000014 75/8125 0/5498 75/2627 - - - - - - -
?/? c.853G>A r.(?) p.(Asp285Asn) g.13337201C>T Copied from the Exome Variant Server ATXN3L_000013 2/8125 0/5498 2/2627 - - - - - - -
?/? c.891G>A r.(=) p.(=) g.13337163C>T Copied from the Exome Variant Server ATXN3L_000012 1/8125 1/5498 0/2627 - - - - - - -
?/? c.933C>A r.(?) p.(His311Gln) g.13337121G>T Copied from the Exome Variant Server ATXN3L_000011 1/8125 0/5498 1/2627 - - - - - - -
?/? c.934G>A r.(?) p.(Glu312Lys) g.13337120C>T Copied from the Exome Variant Server ATXN3L_000010 1/8125 1/5498 0/2627 - - - - - - -
?/? c.939G>A r.(=) p.(=) g.13337115C>T Copied from the Exome Variant Server ATXN3L_000009 654/8125 598/5498 56/2627 - - - - - - -
?/? c.947_949del r.(?) p.(Thr316del) g.13337105_13337107del Copied from the Exome Variant Server ATXN3L_000008 5/9000 5/5741 0/3259 - - - - - - -
?/? c.995G>A r.(?) p.(Gly332Asp) g.13337059C>T Copied from the Exome Variant Server ATXN3L_000007 3865/8125 1862/5498 2003/2627 - - - - - - -
?/? c.1003C>T r.(?) p.(Gln335*) g.13337051G>A Copied from the Exome Variant Server ATXN3L_000006 8/8125 0/5498 8/2627 - - - - - - -
?/? c.1008C>T r.(=) p.(=) g.13337046G>A Copied from the Exome Variant Server ATXN3L_000005 1/8125 0/5498 1/2627 - - - - - - -
?/? c.1026A>C r.(?) p.(Leu342Phe) g.13337028T>G Copied from the Exome Variant Server ATXN3L_000004 13/8125 0/5498 13/2627 - - - - - - -
?/? c.1034_1038del r.(?) p.(Met345Lysfs*17) g.13337016_13337020del Copied from the Exome Variant Server ATXN3L_000003 2/8379 1/5539 1/2840 - - - - - - -
?/? c.1045T>C r.(=) p.(=) g.13337009A>G Copied from the Exome Variant Server ATXN3L_000002 3/8125 3/5498 0/2627 - - - - - - -
?/? c.*21A>G r.(=) p.(=) g.13336965T>C Copied from the Exome Variant Server ATXN3L_000001 1/8125 1/5498 0/2627 - - - - - - -
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