Full data view for gene DESI1

Information The variants shown are described using the NM_015704.2 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.-19G>C r.(=) p.(=) g.42016862C>G Copied from the Exome Variant Server DESI1_000037 149/12966 0/8570 149/4396 - - - - - - -
?/? c.36C>T r.(=) p.(=) g.42016808G>A Copied from the Exome Variant Server DESI1_000036 3/13004 2/8600 1/4404 - - - - - - -
?/? c.55G>A r.(?) p.(Gly19Ser) g.42016789C>T Copied from the Exome Variant Server DESI1_000035 1/13002 1/8598 0/4404 - - - - - - -
?/? c.88+15G>A r.(=) p.(=) g.42016741C>T Copied from the Exome Variant Server DESI1_000034 1/12978 1/8586 0/4392 - - - - - - -
?/? c.88+57G>C r.(=) p.(=) g.42016699C>G Copied from the Exome Variant Server DESI1_000033 1660/4566 1405/3182 255/1384 - - - - - - -
?/? c.89-32C>T r.(=) p.(=) g.42003897G>A Copied from the Exome Variant Server DESI1_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.89-8C>T r.(=) p.(=) g.42003873G>A Copied from the Exome Variant Server DESI1_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.110+24T>C r.(=) p.(=) g.42003820A>G Copied from the Exome Variant Server DESI1_000030 23/13006 22/8600 1/4406 - - - - - - -
?/? c.110+53C>G r.(=) p.(=) g.42003791G>C Copied from the Exome Variant Server DESI1_000029 2/4566 2/3182 0/1384 - - - - - - -
?/? c.110+89T>G r.(=) p.(=) g.42003755A>C Copied from the Exome Variant Server DESI1_000028 95/4566 4/3182 91/1384 - - - - - - -
?/? c.111-38A>G r.(=) p.(=) g.42003373T>C Copied from the Exome Variant Server DESI1_000027 28/13000 0/8600 28/4400 - - - - - - -
?/? c.111-27C>T r.(=) p.(=) g.42003362G>A Copied from the Exome Variant Server DESI1_000026 100/13006 0/8600 100/4406 - - - - - - -
?/? c.148_150del r.(?) p.(Phe50del) g.42003296_42003298del Copied from the Exome Variant Server DESI1_000025 1/12518 1/8254 0/4264 - - - - - - -
?/? c.150C>T r.(=) p.(=) g.42003296G>A Copied from the Exome Variant Server DESI1_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.151G>A r.(?) p.(Gly51Ser) g.42003295C>T Copied from the Exome Variant Server DESI1_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.180+29G>A r.(=) p.(=) g.42003237C>T Copied from the Exome Variant Server DESI1_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.181-45G>A r.(=) p.(=) g.42000202C>T Copied from the Exome Variant Server DESI1_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.181-25A>T r.(=) p.(=) g.42000182T>A Copied from the Exome Variant Server DESI1_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.266C>T r.(?) p.(Ser89Phe) g.42000072G>A Copied from the Exome Variant Server DESI1_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.274G>A r.(?) p.(Gly92Arg) g.42000064C>T Copied from the Exome Variant Server DESI1_000018 2/13006 1/8600 1/4406 - - - - - - -
?/? c.290+13A>G r.(=) p.(=) g.42000035T>C Copied from the Exome Variant Server DESI1_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.290+20G>C r.(=) p.(=) g.42000028C>G Copied from the Exome Variant Server DESI1_000016 3/13006 0/8600 3/4406 - - - - - - -
?/? c.290+21T>C r.(=) p.(=) g.42000027A>G Copied from the Exome Variant Server DESI1_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.290+23G>A r.(=) p.(=) g.42000025C>T Copied from the Exome Variant Server DESI1_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.290+50A>G r.(=) p.(=) g.41999998T>C Copied from the Exome Variant Server DESI1_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.291-21T>C r.(=) p.(=) g.41999406A>G Copied from the Exome Variant Server DESI1_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.291-6G>A r.(=) p.(=) g.41999391C>T Copied from the Exome Variant Server DESI1_000011 6/13006 6/8600 0/4406 - - - - - - -
?/? c.351G>A r.(=) p.(=) g.41999325C>T Copied from the Exome Variant Server DESI1_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.365G>A r.(?) p.(Arg122Gln) g.41999311C>T Copied from the Exome Variant Server DESI1_000009 3/13006 0/8600 3/4406 - - - - - - -
?/? c.381C>T r.(=) p.(=) g.41999295G>A Copied from the Exome Variant Server DESI1_000008 3/13006 3/8600 0/4406 - - - - - - -
?/? c.408C>G r.(=) p.(=) g.41999268G>C Copied from the Exome Variant Server DESI1_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.414-24del r.(=) p.(=) g.41997218del Copied from the Exome Variant Server DESI1_000006 739/12516 7/8252 732/4264 - - - - - - -
?/? c.481G>A r.(?) p.(Val161Met) g.41997127C>T Copied from the Exome Variant Server DESI1_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.495C>T r.(=) p.(=) g.41997113G>A Copied from the Exome Variant Server DESI1_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.496G>A r.(?) p.(Gly166Ser) g.41997112C>T Copied from the Exome Variant Server DESI1_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*1C>T r.(=) p.(=) g.41997100G>A Copied from the Exome Variant Server DESI1_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*33G>A r.(=) p.(=) g.41997068C>T Copied from the Exome Variant Server DESI1_000001 1/13002 1/8600 0/4402 - - - - - - -
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