Unique variants in gene ABHD3

Information The variants shown are described using the NM_138340.4 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.-52_-51insTCGCCCGCTC r.(=) p.(=) g.19284677_19284678insGAGCGGGCGA - ABHD3_000018 rs150746310 - - - - - - Admin
./. 1 - c.-52_-51insTCGCCCGCTCTCGCCCGCTC r.(=) p.(=) g.19284677_19284678insGAGCGGGCGAGAGCGGGCGA - ABHD3_000019 rs150746310 - - - - - - Admin
./. 1 - c.-52_-51insTCGCCCGCTCTCGCCCGCTCTCGCCCGCTC r.(=) p.(=) g.19284677_19284678insGAGCGGGCGAGAGCGGGCGAGAGCGGGCGA - ABHD3_000020 rs150746310 - - - - - - Admin
./. 1 - c.-52_-51insTCGCCCGCTCTCGCCCGCTCTCGCCCGCTCTCGCCCGCTC r.(=) p.(=) g.19284677_19284678insGAGCGGGCGAGAGCGGGCGAGAGCGGGCGAGAGCGGGCGA - ABHD3_000021 rs150746310 - - - - - - Admin
./. 1 - c.22C>T r.(=) p.(=) g.19284605G>A - ABHD3_000017 rs140723099 0.005814 3 516 7634 - - Admin
./. 1 - c.35C>A r.(?) p.(Ser12Tyr) g.19284592G>T - ABHD3_000016 rs144576108 0.003876 2 516 8045 - - Admin
./. 1 - c.162+3G>A r.spl? p.? g.19284462C>T - ABHD3_000015 rs76867119 0.019 10 516 7103 - - Admin
./. 1 - c.162+11G>C r.(=) p.(=) g.19284454C>G - ABHD3_000014 - 0.001938 1 516 6510 1 - Admin
./. 1 - c.326+85T>C r.(=) p.(=) g.19283460A>G - ABHD3_000013 rs537895892 0.001938 1 516 4868 - - Admin
./. 1 - c.327-57_327-56insCAAAA r.(=) p.(=) g.19282515_19282516insTTTTG - ABHD3_000012 rs148633631 - - - - - - Admin
./. 1 - c.514G>C r.(?) p.(Val172Leu) g.19263922C>G - ABHD3_000011 - 0.001938 1 516 4813 1 - Admin
./. 1 - c.585T>C r.(=) p.(=) g.19244162A>G - ABHD3_000010 rs34831491 0.005814 3 516 7364 - - Admin
./. 1 - c.654G>A r.(=) p.(=) g.19244093C>T - ABHD3_000009 rs375511804 0.003876 2 516 7561 - - Admin
./. 1 - c.668+103A>C r.(=) p.(=) g.19243976T>G - ABHD3_000008 rs11665314 0.16 82 512 2405 - - Admin
./. 1 - c.668+415T>C r.(=) p.(=) g.19243664A>G - ABHD3_000007 rs2305684 0.045 23 516 6092 - - Admin
./. 1 - c.669-26G>A r.(=) p.(=) g.19239330C>T - ABHD3_000006 rs185368091 0.007752 4 516 4460 - - Admin
./. 1 - c.819C>T r.(=) p.(=) g.19239154G>A - ABHD3_000005 rs61729089 0.007752 4 516 8458 - - Admin
./. 1 - c.842+42G>A r.(=) p.(=) g.19239089C>T - ABHD3_000004 rs112413414 0.007752 4 516 5788 - - Admin
./. 1 - c.842+84C>T r.(=) p.(=) g.19239047G>A - ABHD3_000003 rs537629293 0.001938 1 516 3404 - - Admin
./. 1 - c.1057+81_1057+83del r.(=) p.(=) g.19236739_19236741del - ABHD3_000002 rs561954811 0.001938 1 516 6758 - - Admin
./. 1 - c.1169T>C r.(?) p.(Met390Thr) g.19231613A>G - ABHD3_000001 rs146199775 0.001938 1 516 6758 - - Admin
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