Full data view for gene RPS27L

Information The variants shown are described using the NM_015920.3 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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.-76G>C r.(=) p.(=) g.63449680C>G Copied from the Exome Variant Server RPS27L_000019 1934/4566 1599/3182 335/1384 - - - - - - -
?/? c.-67T>A r.(=) p.(=) g.63449671A>T Copied from the Exome Variant Server RPS27L_000018 1/4566 1/3182 0/1384 - - - - - - -
?/? c.-60C>G r.(=) p.(=) g.63449664G>C Copied from the Exome Variant Server RPS27L_000017 1/4566 1/3182 0/1384 - - - - - - -
?/? c.-38G>A r.(=) p.(=) g.63449642C>T Copied from the Exome Variant Server RPS27L_000016 1/12224 1/8328 0/3896 - - - - - - -
?/? c.-37G>C r.(=) p.(=) g.63449641C>G Copied from the Exome Variant Server RPS27L_000015 6/12222 6/8324 0/3898 - - - - - - -
?/? c.3G>A r.? p.? g.63449602C>T Copied from the Exome Variant Server RPS27L_000014 1/12224 0/8332 1/3892 - - - - - - -
?/? c.6+50G>C r.(=) p.(=) g.63449549C>G Copied from the Exome Variant Server RPS27L_000013 1/12074 1/8278 0/3796 - - - - - - -
?/? c.6+56T>G r.(=) p.(=) g.63449543A>C Copied from the Exome Variant Server RPS27L_000012 1884/4566 1589/3182 295/1384 - - - - - - -
?/? c.6+93_6+94insA r.(=) p.(=) g.63449505_63449506insT Copied from the Exome Variant Server RPS27L_000011 7/11578 0/7892 7/3686 - - - - - - -
?/? c.7-3C>T r.spl? p.? g.63448723G>A Copied from the Exome Variant Server RPS27L_000010 1/11816 0/8148 1/3668 - - - - - - -
?/? c.54del r.(?) p.(Lys18Asnfs*7) g.63448673del Copied from the Exome Variant Server RPS27L_000009 1/11288 1/7798 0/3490 - - - - - - -
?/? c.72A>G r.(=) p.(=) g.63448655T>C Copied from the Exome Variant Server RPS27L_000008 1/11730 1/8128 0/3602 - - - - - - -
?/? c.85A>G r.(?) p.(Asn29Asp) g.63448642T>C Copied from the Exome Variant Server RPS27L_000007 1/11728 0/8132 1/3596 - - - - - - -
?/? c.156A>T r.(=) p.(=) g.63447890T>A Copied from the Exome Variant Server RPS27L_000006 5/12012 0/8232 5/3780 - - - - - - -
?/? c.226+14C>G r.(=) p.(=) g.63447806G>C Copied from the Exome Variant Server RPS27L_000005 6/12008 5/8242 1/3766 - - - - - - -
?/? c.226+20C>T r.(=) p.(=) g.63447800G>A Copied from the Exome Variant Server RPS27L_000004 1/11998 1/8240 0/3758 - - - - - - -
?/? c.227-6T>C r.(=) p.(=) g.63446265A>G Copied from the Exome Variant Server RPS27L_000003 1/11722 0/8114 1/3608 - - - - - - -
?/? c.227-5T>C r.spl? p.? g.63446264A>G Copied from the Exome Variant Server RPS27L_000002 1/11720 1/8116 0/3604 - - - - - - -
?/? c.*26_*31del r.(=) p.(=) g.63446200_63446205del Copied from the Exome Variant Server RPS27L_000001 1192/11252 728/7780 464/3472 - - - - - - -
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