All variants in the DSC2 gene

Information The variants shown are described using the NM_024422.3 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

ClassClinical     

Owner     
./. 06 c.631 - - Intron - GenBank DSC2_00027 - blood - Qi Ming
./. 01 c.4G>A - p.Glu2Lys Exon - GenBank DSC2_00013 - blood - Qi Ming
./. 01 c.32A>G - p.Asn11Ser Exon - GenBank DSC2_00082 C=0.045/56 unknown - Qi Ming
./. 02 c.82G>T - p.Ala28Ser Exon - GenBank DSC2_00081 NA unknown - Qi Ming
./. 02 c.111A>G - p.Leu37Leu Exon - GenBank DSC2_00025 - blood - Qi Ming
./. 03 c.155-22_155-3del - - Exon - GenBank DSC2_00083 NA unknown - Qi Ming
./. 03 c.172T>G - p.Phe58Val Exon - GenBank DSC2_00079 NA unknown - Qi Ming
./. 03 c.266C>T - p.Ser89Leu Exon - GenBank DSC2_00078 NA unknown - Qi Ming
./. 03 c.304G>A - p.Glu102Lys Exon - GenBank DSC2_00004 - blood - Qi Ming
./. 03 c.304G>A - p.Glu102Lys Exon - GenBank DSC2_00004 - blood - Qi Ming
./. 03 c.304G>A - p.Glu102Lys Exon - GenBank DSC2_00004 NA unknown - Qi Ming
./. 03 c.321G>T - p.Lys107Asn Exon - GenBank DSC2_00077 NA unknown - Qi Ming
./. 03 c.341del - p.Glu114GlyfsX7 Exon - GenBank DSC2_00035 - blood - Qi Ming
./. 03 c.351A>G - p.Thr117Thr Exon - GenBank DSC2_00026 - blood - Qi Ming
./. 04 c.394C>T - p.Arg132Cys Exon - GenBank DSC2_00036 - blood - Qi Ming
./. 04 c.449G>C - p.Gly150Ala Exon - GenBank DSC2_00014 - blood - Qi Ming
./. 05 c.536A>G - p.Asp179Gly Exon - GenBank DSC2_00007 - blood - Qi Ming
./. 05 c.562G>T - p.Val188Leu Exon - GenBank DSC2_00076 NA unknown - Qi Ming
./. 06 c.631-2A>G - - Intron - GenBank DSC2_00008 - blood - Qi Ming
./. 06 c.663T>A - p.Tyr221Ter Exon - GenBank DSC2_00075 NA unknown - Qi Ming
./. 06 c.745A>C - p.Thr249Pro Exon - GenBank DSC2_00074 NA unknown - Qi Ming
./. 06 c.748T>C - p.Phe250Leu Exon - GenBank DSC2_00073 NA unknown - Qi Ming
./. 07 c.865C>T - p.Pro289Ser Exon - GenBank DSC2_00009 - blood - Qi Ming
./. 07 c.874C>T - p.Pro292Ser Exon - GenBank DSC2_00039 - blood - Qi Ming
./. 07 c.880C>A - p.Leu294Ile Exon - GenBank DSC2_00072 NA unknown - Qi Ming
./. 07 c.907G>A - p.Val303Met Exon - GenBank DSC2_00071 NA unknown - Qi Ming
./. 07 c.924A>T - p.Ser308Ser Exon - GenBank DSC2_00033 - blood - Qi Ming
./. 08 c.977A>C - p.Gln326Pro Exon - GenBank DSC2_00070 NA unknown - Qi Ming
./. 08 c.1024A>G - p.Ile342Val Exon - GenBank DSC2_00040 - blood - Qi Ming
./. 08 c.1034T>C - p.Ile345Thr Exon - GenBank DSC2_00005 - blood - Qi Ming
./. 08 c.1034T>C - p.Ile345Thr Exon - GenBank DSC2_00005 - blood - Qi Ming
./. 08 c.1048G>T - p.Asp350Tyr Exon - GenBank DSC2_00010 - blood - Qi Ming
./. 08 c.1073C>T - p.Thr358Ile Exon - GenBank DSC2_00029 - blood - Qi Ming
./. 08 c.1073C>T - p.Thr358Ile Exon - GenBank DSC2_00029 NA unknown - Qi Ming
./. 09 c.1108G>A - p.Asp370Asn Exon - GenBank DSC2_00069 NA unknown - Qi Ming
./. 10 c.1315A>G - p.Asn439Asp Exon - GenBank DSC2_00068 NA unknown - Qi Ming
./. 10 c.1402G>A - p.Gly468Ser Exon - GenBank DSC2_00067 NA unknown - Qi Ming
./. 10 c.1430delC - p.Thr477MetfsX4 Exon - GenBank DSC2_00024 - blood - Qi Ming
./. 10 c.1435C>T - p.Arg479Cys Exon - GenBank DSC2_00066 NA unknown - Qi Ming
./. 11 c.1660C>T - p.Gln554X Exon - GenBank DSC2_00041 - blood - Qi Ming
./. 12 c.1706A>T - p.Asp569Val Exon - GenBank DSC2_00065 NA unknown - Qi Ming
./. 12 c.1721G>A - p.Ser574Asn Exon - GenBank DSC2_00064 NA unknown - Qi Ming
./. 12 c.1775C>T - p.Ala592Val Exon - GenBank DSC2_00063 NA unknown - Qi Ming
./. 12 c.1787C>T - p.Ala596Val Exon - GenBank DSC2_00062 NA unknown - Qi Ming
./. 12 c.1789G>T - p.Val597Phe Exon - GenBank DSC2_00061 NA unknown - Qi Ming
./. 12 c.1808T>C - p.Ile603Thr Exon - GenBank DSC2_00011 - blood - Qi Ming
./. 12 c.1841delG - p.Ser614IlefsX12 Exon - GenBank DSC2_00022 - blood - Qi Ming
./. 13 c.1914G>C - p.Gln638His Exon - GenBank DSC2_00060 NA unknown - Qi Ming
./. 13 c.2036A>G - p.His679Arg Exon - GenBank DSC2_00059 NA unknown - Qi Ming
./. 14 c.2126G>A - p.Cys709Tyr Exon - GenBank DSC2_00058 NA unknown - Qi Ming
./. 14 c.2194T>G - p.Leu732Val Exon - GenBank DSC2_00012 - blood - Qi Ming
./. 14 c.2194T>G - p.Leu732Val Exon - GenBank DSC2_00012 NA unknown - Qi Ming
./. 15 c.2298G>C - p.Gln766His Exon - GenBank DSC2_00057 NA unknown - Qi Ming
./. 15 c.2314G>A - p.Val772Met Exon - GenBank DSC2_00056 NA unknown - Qi Ming
./. 15 c.2326A>G - p.Ile776Val Exon - GenBank DSC2_00030 - blood - Qi Ming
./. 15 c.2326A>G - p.Ile776Val Exon - GenBank DSC2_00030 - blood - Qi Ming
./. 15 c.2326A>G - p.Ile776Val Exon - GenBank DSC2_00030 C=0.191/240 unknown - Qi Ming
./. 15 c.2328C>G - p.Ile776Met Exon - GenBank DSC2_00055 NA unknown - Qi Ming
./. 25 c.2335G>A - p.Gly779Arg Exon - GenBank DSC2_00054 NA unknown - Qi Ming
./. 15 c.2359G>A - p.Val787Met Exon - GenBank DSC2_00053 NA unknown - Qi Ming
./. 15 c.2368_2370del - p.Gly790del Exon - GenBank DSC2_00037 - blood - Qi Ming
./. 25 c.2371C>A - p.His791Asn Exon - GenBank DSC2_00052 NA unknown - Qi Ming
./. 15 c.2375A>G - p.Gln792Arg Exon - GenBank DSC2_00051 NA unknown - Qi Ming
./. 25 c.2381C>T - p.Ser794Leu Exon - GenBank DSC2_00050 NA unknown - Qi Ming
./. 15 c.2393G>A - p.Arg798Gln Exon - GenBank DSC2_00003 - blood - Qi Ming
./. 15 c.2393G>A - p.Arg798Gln Exon - GenBank DSC2_00003 - blood - Qi Ming
./. 15 c.2393G>A - p.Arg798Gln Exon - GenBank DSC2_00003 - blood - Qi Ming
./. 25 c.2393G>A - p.Arg798Gln Exon - GenBank DSC2_00003 T=0.023/29 unknown - Qi Ming
./. 25 c.2408A>G - p.His803Arg Exon - GenBank DSC2_00049 NA unknown - Qi Ming
./. 15 c.2471C>T - p.Ser824Leu Exon - GenBank DSC2_00015 - blood - Qi Ming
./. 25 c.2471C>T - p.Ser824Leu Exon - GenBank DSC2_00015 NA unknown - Qi Ming
./. 25 c.2497C>T - p.Arg833Cys Exon - GenBank DSC2_00048 NA unknown - Qi Ming
./. 15 c.2508+5G>A - - Intron - GenBank DSC2_00016 - blood - Qi Ming
./. 26 c.2509-132G>T - - Exon - GenBank DSC2_00047 NA unknown - Qi Ming
./. 16 c.2603C>T - p.Ser868Phe Exon - GenBank DSC2_00038 - blood - Qi Ming
./. 16 c.2686_2687dup - p.Ala897LysfsX4 Exon - GenBank DSC2_00018 - blood - Qi Ming
./. 16 c.2686_2687insGA - p.Glu896GlyfsX5 Exon - GenBank DSC2_00023 - blood - Qi Ming
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