All transcript variants in gene GJB3

Information The variants shown are described using the NM_024009.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

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     
./. - c.-25-46A>G r.(=) p.(=) g.35250293A>G - GJB3_000001 rs76376530 0.027 14 516 5549 14 0 Admin
./. - c.94C>T r.(?) p.(Arg32Trp) g.35250457C>T - GJB3_000002 rs1805063 0.012 6 516 10107 6 0 Admin
./. - c.187G>A r.(?) p.(Val63Ile) g.35250550G>A - GJB3_000003 rs61732295 0.001938 1 516 9918 1 0 Admin
./. - c.250G>A r.(?) p.(Val84Ile) g.35250613G>A - GJB3_000004 rs145751680 0.001938 1 516 9945 1 0 Admin
./. - c.340G>A r.(?) p.(Ala114Thr) g.35250703G>A - GJB3_000005 rs199689484 0.001938 1 516 9941 1 0 Admin
./. - c.357C>T r.(=) p.(=) g.35250720C>T - GJB3_000006 rs41310442 0.058 30 516 11291 26 2 Admin
./. - c.477G>A r.(=) p.(=) g.35250840G>A - GJB3_000007 rs61732640 0.027 14 516 10022 14 0 Admin
./. - c.529T>G r.(?) p.(Tyr177Asp) g.35250892T>G - GJB3_000008 rs80297119 0.001938 1 516 9718 1 0 Admin
./. - c.567C>T r.(=) p.(=) g.35250930C>T - GJB3_000009 rs61732307 0.019 10 516 9673 10 0 Admin
./. - c.579C>T r.(=) p.(=) g.35250942C>T - GJB3_000010 rs61744512 0.003876 2 516 9657 2 0 Admin
./. - c.598G>A r.(?) p.(Val200Ile) g.35250961G>A - GJB3_000011 rs61734064 0.027 14 516 9760 14 0 Admin
./. - c.651_662del r.(?) p.(Leu218_Asp221del) g.35251014_35251025del - GJB3_000012 rs1361404813 0.005882 3 510 3412 3 0 Admin
./. - c.798C>T r.(=) p.(=) g.35251161C>T - GJB3_000013 rs35983826 0.101 52 516 6406 46 3 Admin
./. - c.*43C>A r.(=) p.(=) g.35251219C>A - GJB3_000014 rs41266429 0.141 73 516 3178 57 8 Admin
./. - c.*53G>A r.(=) p.(=) g.35251229G>A - GJB3_000015 rs476220 0.457 236 516 2905 126 55 Admin
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