Full data view for gene DEFB110

Information The variants shown are described using the NM_001037728.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.-14A>T r.(=) p.(=) g.49989662T>A Copied from the Exome Variant Server DEFB110_000025 1/12964 1/8584 0/4380 - - - - - - -
?/? c.-9C>T r.(=) p.(=) g.49989657G>A Copied from the Exome Variant Server DEFB110_000024 920/12976 789/8586 131/4390 - - - - - - -
?/? c.27T>C r.(=) p.(=) g.49989622A>G Copied from the Exome Variant Server DEFB110_000023 201/12994 1/8592 200/4402 - - - - - - -
?/? c.52C>T r.(?) p.(Pro18Ser) g.49989597G>A Copied from the Exome Variant Server DEFB110_000022 2/12994 2/8594 0/4400 - - - - - - -
?/? c.55+72del r.(=) p.(=) g.49989522del Copied from the Exome Variant Server DEFB110_000021 62/12322 54/8150 8/4172 - - - - - - -
?/? c.55+2725G>T r.(=) p.(=) g.49986869C>A Copied from the Exome Variant Server DEFB110_000020 2/13006 2/8600 0/4406 - - - - - - -
?/? c.55+2754A>G r.(=) p.(=) g.49986840T>C Copied from the Exome Variant Server DEFB110_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.55+2783G>A r.(=) p.(=) g.49986811C>T Copied from the Exome Variant Server DEFB110_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.55+2800G>C r.(=) p.(=) g.49986794C>G Copied from the Exome Variant Server DEFB110_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.55+2802G>A r.(=) p.(=) g.49986792C>T Copied from the Exome Variant Server DEFB110_000016 59/13006 0/8600 59/4406 - - - - - - -
?/? c.55+2856G>A r.(=) p.(=) g.49986738C>T Copied from the Exome Variant Server DEFB110_000015 143/13006 129/8600 14/4406 - - - - - - -
?/? c.55+2866T>C r.(=) p.(=) g.49986728A>G Copied from the Exome Variant Server DEFB110_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.55+2882C>T r.(=) p.(=) g.49986712G>A Copied from the Exome Variant Server DEFB110_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.55+2906G>A r.(=) p.(=) g.49986688C>T Copied from the Exome Variant Server DEFB110_000012 3/13004 0/8598 3/4406 - - - - - - -
?/? c.55+2926A>G r.(=) p.(=) g.49986668T>C Copied from the Exome Variant Server DEFB110_000011 2/13006 0/8600 2/4406 - - - - - - -
?/? c.55+2950C>T r.(=) p.(=) g.49986644G>A Copied from the Exome Variant Server DEFB110_000010 221/13004 1/8598 220/4406 - - - - - - -
?/? c.55+2951G>A r.(=) p.(=) g.49986643C>T Copied from the Exome Variant Server DEFB110_000009 15/13004 15/8598 0/4406 - - - - - - -
?/? c.56-15T>G r.(=) p.(=) g.49976999A>C Copied from the Exome Variant Server DEFB110_000008 100/11764 1/8146 99/3618 - - - - - - -
?/? c.56-7A>G r.(=) p.(=) g.49976991T>C Copied from the Exome Variant Server DEFB110_000007 21/11798 0/8156 21/3642 - - - - - - -
?/? c.80A>G r.(?) p.(Tyr27Cys) g.49976960T>C Copied from the Exome Variant Server DEFB110_000006 1/11854 1/8182 0/3672 - - - - - - -
?/? c.128G>T r.(?) p.(Cys43Phe) g.49976912C>A Copied from the Exome Variant Server DEFB110_000005 1/11996 1/8232 0/3764 - - - - - - -
?/? c.157T>C r.(?) p.(Cys53Arg) g.49976883A>G Copied from the Exome Variant Server DEFB110_000004 7/12014 7/8240 0/3774 - - - - - - -
?/? c.165A>G r.(=) p.(=) g.49976875T>C Copied from the Exome Variant Server DEFB110_000003 2/12012 0/8240 2/3772 - - - - - - -
?/? c.184G>A r.(?) p.(Val62Ile) g.49976856C>T Copied from the Exome Variant Server DEFB110_000002 1/11994 1/8232 0/3762 - - - - - - -
?/? c.186A>G r.(=) p.(=) g.49976854T>C Copied from the Exome Variant Server DEFB110_000001 1/11990 1/8230 0/3760 - - - - - - -
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