All transcript variants in gene C2orf83

Information The variants shown are described using the NM_020161.3 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     
?/? c.-17T>C r.(=) p.(=) g.228497818A>G Copied from the Exome Variant Server C2orf83_000022 2/13006 0/8600 2/4406
?/? c.-7T>C r.(=) p.(=) g.228497808A>G Copied from the Exome Variant Server C2orf83_000020 1/13006 0/8600 1/4406
?/? c.29T>A r.(?) p.(Ile10Asn) g.228497773A>T Copied from the Exome Variant Server C2orf83_000018 16/13006 0/8600 16/4406
?/? c.66G>A r.(=) p.(=) g.228497736C>T Copied from the Exome Variant Server C2orf83_000016 4/13006 0/8600 4/4406
?/? c.117+33A>C r.(=) p.(=) g.228497652T>G Copied from the Exome Variant Server C2orf83_000014 1/13006 0/8600 1/4406
?/? c.117+50A>G r.(=) p.(=) g.228497635T>C Copied from the Exome Variant Server C2orf83_000012 1/13006 1/8600 0/4406
?/? c.118-52G>A r.(=) p.(=) g.228493279C>T Copied from the Exome Variant Server C2orf83_000024 1/7272 1/4618 0/2654
?/? c.118-27C>G r.(=) p.(=) g.228493254G>C Copied from the Exome Variant Server C2orf83_000023 2/7272 0/4618 2/2654
?/? c.134C>T r.(?) p.(Ser45Leu) g.228493211G>A Copied from the Exome Variant Server C2orf83_000021 2314/7272 1185/4618 1129/2654
?/? c.190+24T>C r.(=) p.(=) g.228493131A>G Copied from the Exome Variant Server C2orf83_000019 184/7272 0/4618 184/2654
?/? c.191-1385_191-1384insC r.(=) p.(=) g.228477756_228477757insG Copied from the Exome Variant Server C2orf83_000017 3/6794 3/4494 0/2300
?/? c.191-1265del r.(=) p.(=) g.228477637del Copied from the Exome Variant Server C2orf83_000015 18/6942 12/4506 6/2436
?/? c.191-10C>G r.(=) p.(=) g.228476382G>C Copied from the Exome Variant Server C2orf83_000013 35/13004 29/8598 6/4406
?/? c.247G>A r.(?) p.(Val83Ile) g.228476316C>T Copied from the Exome Variant Server C2orf83_000011 10/13006 0/8600 10/4406
?/? c.282G>A r.(=) p.(=) g.228476281C>T Copied from the Exome Variant Server C2orf83_000010 1/13006 1/8600 0/4406
?/? c.310G>C r.(?) p.(Glu104Gln) g.228476253C>G Copied from the Exome Variant Server C2orf83_000009 10654/13006 7685/8600 2969/4406
?/? c.321C>G r.(=) p.(=) g.228476242G>C Copied from the Exome Variant Server C2orf83_000008 1/13006 1/8600 0/4406
?/? c.385T>A r.(?) p.(Ser129Thr) g.228476178A>T Copied from the Exome Variant Server C2orf83_000007 1/13006 0/8600 1/4406
?/? c.423G>A r.(?) p.(Trp141*) g.228476140C>T Copied from the Exome Variant Server C2orf83_000006 3652/13006 2628/8600 1024/4406
?/? c.435A>C r.(?) p.(Arg145Ser) g.228476128T>G Copied from the Exome Variant Server C2orf83_000005 1/13006 0/8600 1/4406
?/? c.*2T>G r.(=) p.(=) g.228476108A>C Copied from the Exome Variant Server C2orf83_000004 1/13006 1/8600 0/4406
?/? c.*19G>T r.(=) p.(=) g.228476091C>A Copied from the Exome Variant Server C2orf83_000003 71/13006 4/8600 67/4406
?/? c.*26T>C r.(=) p.(=) g.228476084A>G Copied from the Exome Variant Server C2orf83_000002 1/13006 1/8600 0/4406
?/? c.*50G>C r.(=) p.(=) g.228476060C>G Copied from the Exome Variant Server C2orf83_000001 1/13006 1/8600 0/4406
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