Unique variants in gene GYG1

Information The variants shown are described using the NM_004130.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.-175G>A r.(=) p.(=) g.148709253G>A - GYG1_000001 rs921446547 0.001946 1 514 2276 1 - Admin
./. 1 - c.-162A>G r.(=) p.(=) g.148709266A>G - GYG1_000003 rs191178836 0.005837 3 514 2679 - - Admin
./. 1 - c.-104G>A r.(=) p.(=) g.148709324G>A - GYG1_000005 rs149443762 0.00969 5 516 4637 - - Admin
./. 1 - c.-75C>T r.(=) p.(=) g.148709353C>T - GYG1_000007 rs567552693 0.001938 1 516 5230 - - Admin
./. 1 - c.-69C>T r.(=) p.(=) g.148709359C>T - GYG1_000009 rs560813404 0.012 6 516 5350 - - Admin
./. 1 - c.7+96C>G r.(=) p.(=) g.148709530C>G - GYG1_000011 rs111848296 0.019 9 468 860 - - Admin
./. 1 - c.8-125del r.(=) p.(=) g.148711804del - GYG1_000013 rs113610694 0.019 9 468 860 - - Admin
./. 1 - c.8-103G>C r.(=) p.(=) g.148711826G>C - GYG1_000015 rs140354288 0.007752 4 516 5236 - - Admin
./. 1 - c.8-23_8-22insT r.(=) p.(=) g.148711906_148711907insT - GYG1_000017 rs368468774 - - - - - - Admin
./. 1 - c.8-12C>T r.(=) p.(=) g.148711917C>T - GYG1_000019 rs756817173 0.041 21 516 3068 - - Admin
./. 1 - c.8-8G>T r.(=) p.(=) g.148711921G>T - GYG1_000021 rs1374147137 0.039 20 516 3059 20 - Admin
./. 1 - c.8-6A>T r.(=) p.(=) g.148711923A>T - GYG1_000023 rs1313549770 0.012 6 516 3069 6 - Admin
./. 1 - c.114C>T r.(=) p.(=) g.148712035C>T - GYG1_000025 rs61733452 0.031 16 516 6223 - - Admin
./. 1 - c.143+111T>C r.(=) p.(=) g.148712175T>C - GYG1_000026 rs114704879 0.001946 1 514 1756 - - Admin
./. 1 - c.159A>G r.(=) p.(=) g.148714104A>G - GYG1_000027 rs148619511 0.014 7 516 6155 - - Admin
./. 1 - c.304G>C r.(?) p.(Asp102His) g.148714249G>C - GYG1_000028 rs143137713 0.001938 1 516 5442 - - Admin
./. 1 - c.319-51G>A r.(=) p.(=) g.148714478G>A - GYG1_000029 rs140374515 0.001938 1 516 7961 - - Admin
./. 1 - c.319-12C>T r.(=) p.(=) g.148714517C>T - GYG1_000030 rs114156848 0.003876 2 516 7659 - - Admin
./. 1 - c.439A>G r.(?) p.(Asn147Asp) g.148714649A>G - GYG1_000031 rs140175164 0.001938 1 516 6390 - - Admin
./. 1 - c.452A>T r.(?) p.(His151Leu) g.148714662A>T - GYG1_000032 rs35054019 0.007752 4 516 6791 - - Admin
./. 1 - c.481+78G>A r.(=) p.(=) g.148714769G>A - GYG1_000033 rs577082367 0.003876 2 516 5852 - - Admin
./. 1 - c.481+106A>G r.(=) p.(=) g.148714797A>G - GYG1_000034 - 0.001938 1 516 4236 1 - Admin
./. 1 - c.481+148_481+152del r.(=) p.(=) g.148714839_148714843del - GYG1_000035 rs1256068538 0.001938 1 516 4236 1 - Admin
./. 1 - c.481+149del r.(=) p.(=) g.148714840del - GYG1_000036 rs541095432 0.001938 1 516 4236 - - Admin
./. 1 - c.481+150T>G r.(=) p.(=) g.148714841T>G - GYG1_000037 rs10571382 - - - - - - Admin
./. 1 - c.481+151_481+154del r.(=) p.(=) g.148714842_148714845del - GYG1_000002 rs10571382 0.001938 1 516 4236 1 - Admin
./. 1 - c.481+153_481+154del r.(=) p.(=) g.148714844_148714845del - GYG1_000004 rs10571382 0.001938 1 516 4236 1 - Admin
./. 1 - c.481+153_481+154dup r.(=) p.(=) g.148714844_148714845dup - GYG1_000006 rs10571382 - - - - - - Admin
./. 1 - c.481+154_481+155insTGTGTGTG r.(=) p.(=) g.148714845_148714846insTGTGTGTG - GYG1_000008 rs10571382 - - - - - - Admin
./. 1 - c.552G>A r.(=) p.(=) g.148727133G>A - GYG1_000010 rs4938 0.324 167 516 5934 - - Admin
./. 1 - c.608+54G>A r.(=) p.(=) g.148727243G>A - GYG1_000012 rs75198264 0.003876 2 516 8376 - - Admin
./. 1 - c.609G>A r.(=) p.(=) g.148741840G>A - GYG1_000014 rs75445811 0.001938 1 516 2772 - - Admin
./. 1 - c.829-845_829-842del r.(=) p.(=) g.148743394_148743397del - GYG1_000016 rs532594274 0.001938 1 516 2772 - - Admin
./. 1 - c.879+115T>G r.(=) p.(=) g.148744404T>G - GYG1_000018 rs2289449 0.007752 4 516 3511 - - Admin
./. 1 - c.*91A>G r.(=) p.(=) g.148744811A>G - GYG1_000020 rs191817695 0.001938 1 516 5857 - - Admin
./. 1 - c.*141A>G r.(=) p.(=) g.148744861A>G - GYG1_000022 rs112590964 0.001938 1 516 3632 - - Admin
./. 1 - c.*148_*149insT r.(=) p.(=) g.148744868_148744869insT - GYG1_000024 rs138925323 - - - - - - Admin
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