Full data view for gene PCYOX1L

Information The variants shown are described using the NM_024028.3 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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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.88+26C>G r.(=) p.(=) g.148737745C>G Copied from the Exome Variant Server PCYOX1L_000004 2/5662 0/3950 2/1712 - - - - - - -
?/? c.89-42G>A r.(=) p.(=) g.148742158G>A Copied from the Exome Variant Server PCYOX1L_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.89-21A>G r.(=) p.(=) g.148742179A>G Copied from the Exome Variant Server PCYOX1L_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.122T>C r.(?) p.(Val41Ala) g.148742233T>C Copied from the Exome Variant Server PCYOX1L_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.128A>G r.(?) p.(His43Arg) g.148742239A>G Copied from the Exome Variant Server PCYOX1L_000012 2/13006 2/8600 0/4406 - - - - - - -
?/? c.174C>T r.(=) p.(=) g.148742285C>T Copied from the Exome Variant Server PCYOX1L_000014 4/13006 0/8600 4/4406 - - - - - - -
?/? c.187G>A r.(?) p.(Val63Met) g.148742298G>A Copied from the Exome Variant Server PCYOX1L_000016 2/13006 0/8600 2/4406 - - - - - - -
?/? c.208A>G r.(?) p.(Ile70Val) g.148742319A>G Copied from the Exome Variant Server PCYOX1L_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.238G>A r.(?) p.(Gly80Arg) g.148742349G>A Copied from the Exome Variant Server PCYOX1L_000020 2/13006 2/8600 0/4406 - - - - - - -
?/? c.241G>A r.(?) p.(Ala81Thr) g.148742352G>A Copied from the Exome Variant Server PCYOX1L_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.281T>C r.(?) p.(Phe94Ser) g.148742392T>C Copied from the Exome Variant Server PCYOX1L_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.295+18G>C r.(=) p.(=) g.148742424G>C Copied from the Exome Variant Server PCYOX1L_000001 1/13006 0/8600 1/4406 - - - - - - -
?/? c.295+31C>T r.(=) p.(=) g.148742437C>T Copied from the Exome Variant Server PCYOX1L_000002 1/13004 0/8598 1/4406 - - - - - - -
?/? c.295+36C>G r.(=) p.(=) g.148742442C>G Copied from the Exome Variant Server PCYOX1L_000003 17/13002 17/8598 0/4404 - - - - - - -
?/? c.296-47del r.(=) p.(=) g.148743552del Copied from the Exome Variant Server PCYOX1L_000005 4/12518 3/8254 1/4264 - - - - - - -
?/? c.296-13_296-12del r.(=) p.(=) g.148743586_148743587del Copied from the Exome Variant Server PCYOX1L_000007 5/12518 0/8254 5/4264 - - - - - - -
?/? c.308G>A r.(?) p.(Arg103Gln) g.148743611G>A Copied from the Exome Variant Server PCYOX1L_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.309G>T r.(=) p.(=) g.148743612G>T Copied from the Exome Variant Server PCYOX1L_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.310C>A r.(?) p.(Arg104Ser) g.148743613C>A Copied from the Exome Variant Server PCYOX1L_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.311G>A r.(?) p.(Arg104His) g.148743614G>A Copied from the Exome Variant Server PCYOX1L_000015 19/13006 1/8600 18/4406 - - - - - - -
?/? c.312C>T r.(=) p.(=) g.148743615C>T Copied from the Exome Variant Server PCYOX1L_000017 2/13006 2/8600 0/4406 - - - - - - -
?/? c.470+5G>C r.spl? p.? g.148743778G>C Copied from the Exome Variant Server PCYOX1L_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.470+27G>A r.(=) p.(=) g.148743800G>A Copied from the Exome Variant Server PCYOX1L_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.470+28C>G r.(=) p.(=) g.148743801C>G Copied from the Exome Variant Server PCYOX1L_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.470+29G>A r.(=) p.(=) g.148743802G>A Copied from the Exome Variant Server PCYOX1L_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.477T>C r.(=) p.(=) g.148745511T>C Copied from the Exome Variant Server PCYOX1L_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.492C>T r.(=) p.(=) g.148745526C>T Copied from the Exome Variant Server PCYOX1L_000027 6/13006 6/8600 0/4406 - - - - - - -
?/? c.539A>T r.(?) p.(Glu180Val) g.148745573A>T Copied from the Exome Variant Server PCYOX1L_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.589C>A r.(?) p.(Gln197Lys) g.148745623C>A Copied from the Exome Variant Server PCYOX1L_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.602C>T r.(?) p.(Thr201Met) g.148745636C>T Copied from the Exome Variant Server PCYOX1L_000030 2/13006 1/8600 1/4406 - - - - - - -
?/? c.624C>T r.(=) p.(=) g.148745658C>T Copied from the Exome Variant Server PCYOX1L_000031 2/13006 1/8600 1/4406 - - - - - - -
?/? c.630T>C r.(=) p.(=) g.148745664T>C Copied from the Exome Variant Server PCYOX1L_000032 11/13006 0/8600 11/4406 - - - - - - -
?/? c.631G>C r.(?) p.(Ala211Pro) g.148745665G>C Copied from the Exome Variant Server PCYOX1L_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.665C>T r.(?) p.(Ala222Val) g.148745699C>T Copied from the Exome Variant Server PCYOX1L_000034 43/13006 0/8600 43/4406 - - - - - - -
?/? c.682+5G>T r.spl? p.? g.148745721G>T Copied from the Exome Variant Server PCYOX1L_000035 7/13006 0/8600 7/4406 - - - - - - -
?/? c.682+7G>A r.(=) p.(=) g.148745723G>A Copied from the Exome Variant Server PCYOX1L_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.682+28C>T r.(=) p.(=) g.148745744C>T Copied from the Exome Variant Server PCYOX1L_000037 1/13002 1/8596 0/4406 - - - - - - -
?/? c.682+51G>A r.(=) p.(=) g.148745767G>A Copied from the Exome Variant Server PCYOX1L_000038 1/12942 0/8558 1/4384 - - - - - - -
?/? c.683-52C>T r.(=) p.(=) g.148746871C>T Copied from the Exome Variant Server PCYOX1L_000039 8/5734 0/3982 8/1752 - - - - - - -
?/? c.683-11G>A r.(=) p.(=) g.148746912G>A Copied from the Exome Variant Server PCYOX1L_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.746T>C r.(?) p.(Val249Ala) g.148746986T>C Copied from the Exome Variant Server PCYOX1L_000041 4/13006 0/8600 4/4406 - - - - - - -
?/? c.823+15C>T r.(=) p.(=) g.148747078C>T Copied from the Exome Variant Server PCYOX1L_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.823+16G>A r.(=) p.(=) g.148747079G>A Copied from the Exome Variant Server PCYOX1L_000043 2/13006 1/8600 1/4406 - - - - - - -
?/? c.824-15C>A r.(=) p.(=) g.148747541C>A Copied from the Exome Variant Server PCYOX1L_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.831A>G r.(=) p.(=) g.148747563A>G Copied from the Exome Variant Server PCYOX1L_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.833C>T r.(?) p.(Ala278Val) g.148747565C>T Copied from the Exome Variant Server PCYOX1L_000046 85/13006 0/8600 85/4406 - - - - - - -
?/? c.844G>A r.(?) p.(Val282Met) g.148747576G>A Copied from the Exome Variant Server PCYOX1L_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.900C>T r.(=) p.(=) g.148747632C>T Copied from the Exome Variant Server PCYOX1L_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.901G>A r.(?) p.(Ala301Thr) g.148747633G>A Copied from the Exome Variant Server PCYOX1L_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.909C>G r.(=) p.(=) g.148747641C>G Copied from the Exome Variant Server PCYOX1L_000050 2/13006 0/8600 2/4406 - - - - - - -
?/? c.910C>T r.(=) p.(=) g.148747642C>T Copied from the Exome Variant Server PCYOX1L_000051 52/13006 50/8600 2/4406 - - - - - - -
?/? c.926G>A r.(?) p.(Ser309Asn) g.148747658G>A Copied from the Exome Variant Server PCYOX1L_000052 2/13006 2/8600 0/4406 - - - - - - -
?/? c.937T>C r.(=) p.(=) g.148747669T>C Copied from the Exome Variant Server PCYOX1L_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.946G>A r.(?) p.(Ala316Thr) g.148747678G>A Copied from the Exome Variant Server PCYOX1L_000054 519/13006 90/8600 429/4406 - - - - - - -
?/? c.973G>T r.(?) p.(Val325Leu) g.148747705G>T Copied from the Exome Variant Server PCYOX1L_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1065C>G r.(=) p.(=) g.148747797C>G Copied from the Exome Variant Server PCYOX1L_000056 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1082C>A r.(?) p.(Thr361Asn) g.148747814C>A Copied from the Exome Variant Server PCYOX1L_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1138T>G r.(?) p.(Ser380Ala) g.148747870T>G Copied from the Exome Variant Server PCYOX1L_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1170G>C r.(?) p.(Glu390Asp) g.148747902G>C Copied from the Exome Variant Server PCYOX1L_000060 1806/13006 1635/8600 171/4406 - - - - - - -
?/? c.1197C>T r.(=) p.(=) g.148747929C>T Copied from the Exome Variant Server PCYOX1L_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1221A>G r.(=) p.(=) g.148747953A>G Copied from the Exome Variant Server PCYOX1L_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1291C>A r.(?) p.(Arg431Ser) g.148748023C>A Copied from the Exome Variant Server PCYOX1L_000059 25/13006 25/8600 0/4406 - - - - - - -
?/? c.1292G>T r.(?) p.(Arg431Leu) g.148748024G>T Copied from the Exome Variant Server PCYOX1L_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1298C>T r.(?) p.(Thr433Met) g.148748030C>T Copied from the Exome Variant Server PCYOX1L_000063 5/13006 5/8600 0/4406 - - - - - - -
?/? c.1308G>T r.(?) p.(Arg436Ser) g.148748040G>T Copied from the Exome Variant Server PCYOX1L_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1356G>A r.(=) p.(=) g.148748088G>A Copied from the Exome Variant Server PCYOX1L_000066 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1358C>G r.(?) p.(Ala453Gly) g.148748090C>G Copied from the Exome Variant Server PCYOX1L_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1364C>A r.(?) p.(Ser455Tyr) g.148748096C>A Copied from the Exome Variant Server PCYOX1L_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1435G>C r.(?) p.(Asp479His) g.148748167G>C Copied from the Exome Variant Server PCYOX1L_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*20G>T r.(=) p.(=) g.148748237G>T Copied from the Exome Variant Server PCYOX1L_000070 5/12992 0/8588 5/4404 - - - - - - -
Legend