Full data view for gene NDUFA13

Information The variants shown are described using the NM_015965.6 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
Legend  

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.-279C>T r.(=) p.(=) g.19626769C>T Copied from the Exome Variant Server NDUFA13_000001 1849/12202 1229/8088 620/4114 - - - - - - -
?/? c.-273G>C r.(=) p.(=) g.19626775G>C Copied from the Exome Variant Server NDUFA13_000002 6/12406 0/8230 6/4176 - - - - - - -
?/? c.-29C>A r.(=) p.(=) g.19627019C>A Copied from the Exome Variant Server NDUFA13_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-26G>A r.(=) p.(=) g.19627022G>A Copied from the Exome Variant Server NDUFA13_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-19A>G r.(=) p.(=) g.19627029A>G Copied from the Exome Variant Server NDUFA13_000005 3/13006 3/8600 0/4406 - - - - - - -
?/? c.-16G>A r.(=) p.(=) g.19627032G>A Copied from the Exome Variant Server NDUFA13_000006 3/13006 2/8600 1/4406 - - - - - - -
?/? c.-14G>A r.(=) p.(=) g.19627034G>A Copied from the Exome Variant Server NDUFA13_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.5C>G r.(?) p.(Ala2Gly) g.19627052C>G Copied from the Exome Variant Server NDUFA13_000008 2/13006 1/8600 1/4406 - - - - - - -
?/? c.21G>C r.(?) p.(Lys7Asn) g.19627068G>C Copied from the Exome Variant Server NDUFA13_000009 4/13006 0/8600 4/4406 - - - - - - -
?/? c.25G>C r.(?) p.(Asp9His) g.19627072G>C Copied from the Exome Variant Server NDUFA13_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.30G>A r.(?) p.(Met10Ile) g.19627077G>A Copied from the Exome Variant Server NDUFA13_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.39G>T r.(=) p.(=) g.19627086G>T Copied from the Exome Variant Server NDUFA13_000012 2/13006 2/8600 0/4406 - - - - - - -
?/? c.41G>C r.(?) p.(Gly14Ala) g.19627088G>C Copied from the Exome Variant Server NDUFA13_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.45C>A r.(=) p.(=) g.19627092C>A Copied from the Exome Variant Server NDUFA13_000015 2/13006 1/8600 1/4406 - - - - - - -
?/? c.45del r.(?) p.(Tyr16Metfs*23) g.19627092del Copied from the Exome Variant Server NDUFA13_000014 1/12518 0/8254 1/4264 - - - - - - -
?/? c.74T>G r.(?) p.(Leu25Trp) g.19627121T>G Copied from the Exome Variant Server NDUFA13_000016 14/13006 14/8600 0/4406 - - - - - - -
?/? c.94+4A>G r.spl? p.? g.19627145A>G Copied from the Exome Variant Server NDUFA13_000017 1/12992 0/8592 1/4400 - - - - - - -
?/? c.94+29G>A r.(=) p.(=) g.19627170G>A Copied from the Exome Variant Server NDUFA13_000018 27/12814 22/8480 5/4334 - - - - - - -
?/? c.95-24G>T r.(=) p.(=) g.19636967G>T Copied from the Exome Variant Server NDUFA13_000019 3/13006 3/8600 0/4406 - - - - - - -
?/? c.95-13C>T r.(=) p.(=) g.19636978C>T Copied from the Exome Variant Server NDUFA13_000020 118/13004 1/8600 117/4404 - - - - - - -
?/? c.95-5C>T r.spl? p.? g.19636986C>T Copied from the Exome Variant Server NDUFA13_000021 7/13004 6/8600 1/4404 - - - - - - -
?/? c.95-4A>G r.spl? p.? g.19636987A>G Copied from the Exome Variant Server NDUFA13_000022 2/13004 0/8600 2/4404 - - - - - - -
?/? c.136G>A r.(?) p.(Gly46Arg) g.19637032G>A Copied from the Exome Variant Server NDUFA13_000023 2/13006 1/8600 1/4406 - - - - - - -
?/? c.173+39C>T r.(=) p.(=) g.19637108C>T Copied from the Exome Variant Server NDUFA13_000024 16/13002 14/8600 2/4402 - - - - - - -
?/? c.173+50C>A r.(=) p.(=) g.19637119C>A Copied from the Exome Variant Server NDUFA13_000025 6/13004 5/8600 1/4404 - - - - - - -
?/? c.173+52G>A r.(=) p.(=) g.19637121G>A Copied from the Exome Variant Server NDUFA13_000026 1/7272 0/4618 1/2654 - - - - - - -
?/? c.174-52C>T r.(=) p.(=) g.19638038C>T Copied from the Exome Variant Server NDUFA13_000027 1/10298 1/7164 0/3134 - - - - - - -
?/? c.174-42C>T r.(=) p.(=) g.19638048C>T Copied from the Exome Variant Server NDUFA13_000028 6/13006 0/8600 6/4406 - - - - - - -
?/? c.174-13C>T r.(=) p.(=) g.19638077C>T Copied from the Exome Variant Server NDUFA13_000029 2/13006 1/8600 1/4406 - - - - - - -
?/? c.174-3C>T r.spl? p.? g.19638087C>T Copied from the Exome Variant Server NDUFA13_000030 2/13006 2/8600 0/4406 - - - - - - -
?/? c.174G>T r.(?) p.(Arg58Ser) g.19638090G>T Copied from the Exome Variant Server NDUFA13_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.186C>T r.(=) p.(=) g.19638102C>T Copied from the Exome Variant Server NDUFA13_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.205A>G r.(?) p.(Ile69Val) g.19638121A>G Copied from the Exome Variant Server NDUFA13_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.210G>C r.(=) p.(=) g.19638126G>C Copied from the Exome Variant Server NDUFA13_000034 5/13006 5/8600 0/4406 - - - - - - -
?/? c.244A>G r.(?) p.(Arg82Gly) g.19638160A>G Copied from the Exome Variant Server NDUFA13_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.245+52C>T r.(=) p.(=) g.19638213C>T Copied from the Exome Variant Server NDUFA13_000036 1/7272 0/4618 1/2654 - - - - - - -
?/? c.245+57G>A r.(=) p.(=) g.19638218G>A Copied from the Exome Variant Server NDUFA13_000037 732/4566 520/3182 212/1384 - - - - - - -
?/? c.246-44_246-43del r.(=) p.(=) g.19638466_19638467del Copied from the Exome Variant Server NDUFA13_000038 7/11180 3/7358 4/3822 - - - - - - -
?/? c.246-18_246-17insCGGC r.(=) p.(=) g.19638492_19638493insCGGC Copied from the Exome Variant Server NDUFA13_000039 17/11530 15/7610 2/3920 - - - - - - -
?/? c.262C>T r.(?) p.(Arg88Trp) g.19638526C>T Copied from the Exome Variant Server NDUFA13_000040 1/12616 1/8352 0/4264 - - - - - - -
?/? c.286A>G r.(?) p.(Ile96Val) g.19638550A>G Copied from the Exome Variant Server NDUFA13_000041 1/12662 0/8374 1/4288 - - - - - - -
?/? c.315+20G>A r.(=) p.(=) g.19638599G>A Copied from the Exome Variant Server NDUFA13_000042 1/12390 0/8192 1/4198 - - - - - - -
?/? c.315+36C>T r.(=) p.(=) g.19638615C>T Copied from the Exome Variant Server NDUFA13_000043 4/12422 0/8218 4/4204 - - - - - - -
?/? c.316-18_316-17insC r.(=) p.(=) g.19638798_19638799insC Copied from the Exome Variant Server NDUFA13_000044 1/12512 0/8250 1/4262 - - - - - - -
?/? c.357C>T r.(=) p.(=) g.19638857C>T Copied from the Exome Variant Server NDUFA13_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.375C>T r.(=) p.(=) g.19638875C>T Copied from the Exome Variant Server NDUFA13_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.384C>T r.(=) p.(=) g.19638884C>T Copied from the Exome Variant Server NDUFA13_000047 3/13006 0/8600 3/4406 - - - - - - -
?/? c.398C>G r.(?) p.(Ala133Gly) g.19638898C>G Copied from the Exome Variant Server NDUFA13_000048 1/13004 1/8598 0/4406 - - - - - - -
?/? c.*48C>T r.(=) p.(=) g.19638983C>T Copied from the Exome Variant Server NDUFA13_000049 1/13006 1/8600 0/4406 - - - - - - -
Legend