Full data view for gene DPH3

Information The variants shown are described using the NM_206831.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.-17G>C r.(=) p.(=) g.16306400C>G Copied from the Exome Variant Server DPH3_000020 2/13006 0/8600 2/4406 - - - - - - -
?/? c.-12C>G r.(=) p.(=) g.16306395G>C Copied from the Exome Variant Server DPH3_000018 2/13006 1/8600 1/4406 - - - - - - -
?/? c.-4G>A r.(=) p.(=) g.16306387C>T Copied from the Exome Variant Server DPH3_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.98C>T r.(?) p.(Ser33Phe) g.16306286G>A Copied from the Exome Variant Server DPH3_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.108+4A>T r.spl? p.? g.16306272T>A Copied from the Exome Variant Server DPH3_000023 11/13006 11/8600 0/4406 - - - - - - -
?/? c.108+35G>C r.(=) p.(=) g.16306241C>G Copied from the Exome Variant Server DPH3_000022 2/13006 2/8600 0/4406 - - - - - - -
?/? c.109-59G>A r.(=) p.(=) g.16305795C>T Copied from the Exome Variant Server DPH3_000021 1/4566 1/3182 0/1384 - - - - - - -
?/? c.109-22A>G r.(=) p.(=) g.16305758T>C Copied from the Exome Variant Server DPH3_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.109-17A>G r.(=) p.(=) g.16305753T>C Copied from the Exome Variant Server DPH3_000017 2/13006 0/8600 2/4406 - - - - - - -
?/? c.132C>T r.(=) p.(=) g.16305713G>A Copied from the Exome Variant Server DPH3_000015 3/13006 1/8600 2/4406 - - - - - - -
?/? c.171G>C r.(=) p.(=) g.16305674C>G Copied from the Exome Variant Server DPH3_000014 5194/13006 3648/8600 1546/4406 - - - - - - -
?/? c.183+8A>G r.(=) p.(=) g.16305654T>C Copied from the Exome Variant Server DPH3_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.183+37G>A r.(=) p.(=) g.16305625C>T Copied from the Exome Variant Server DPH3_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.183+48G>C r.(=) p.(=) g.16305614C>G Copied from the Exome Variant Server DPH3_000011 2/13002 0/8596 2/4406 - - - - - - -
?/? c.184-58A>G r.(=) p.(=) g.16302394T>C Copied from the Exome Variant Server DPH3_000010 2/4566 2/3182 0/1384 - - - - - - -
?/? c.184-40G>A r.(=) p.(=) g.16302376C>T Copied from the Exome Variant Server DPH3_000009 1/13004 1/8600 0/4404 - - - - - - -
?/? c.184-31T>C r.(=) p.(=) g.16302367A>G Copied from the Exome Variant Server DPH3_000008 1/13004 0/8600 1/4404 - - - - - - -
?/? c.184-22G>A r.(=) p.(=) g.16302358C>T Copied from the Exome Variant Server DPH3_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.184-7_184-4del r.spl? p.? g.16302340_16302343del Copied from the Exome Variant Server DPH3_000006 2/12520 2/8254 0/4266 - - - - - - -
?/? c.184G>A r.(?) p.(Asp62Asn) g.16302336C>T Copied from the Exome Variant Server DPH3_000005 3/13006 0/8600 3/4406 - - - - - - -
?/? c.*26G>C r.(=) p.(=) g.16302245C>G Copied from the Exome Variant Server DPH3_000004 2/13006 2/8600 0/4406 - - - - - - -
?/? c.*30A>G r.(=) p.(=) g.16302241T>C Copied from the Exome Variant Server DPH3_000003 2/13006 0/8600 2/4406 - - - - - - -
?/? c.*31T>G r.(=) p.(=) g.16302240A>C Copied from the Exome Variant Server DPH3_000002 8/13006 8/8600 0/4406 - - - - - - -
?/? c.*39G>A r.(=) p.(=) g.16302232C>T Copied from the Exome Variant Server DPH3_000001 1/13006 0/8600 1/4406 - - - - - - -
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