All transcript variants in gene GJB1

Information The variants shown are described using the NM_000166.5 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.-16-139A>G r.(=) p.(=) g.70443403A>G - GJB1_000001 rs765208266 0.003922 2 510 2961 - - Admin
./. - c.-16-82G>C r.(=) p.(=) g.70443460G>C - GJB1_000002 rs192195270 0.001938 1 516 5457 - - Admin
./. - c.-16-65T>A r.(=) p.(=) g.70443477T>A - GJB1_000003 rs961691232 0.003876 2 516 6687 0 1 Admin
./. - c.235C>T r.(=) p.(=) g.70443792C>T - GJB1_000004 rs144717157 0.001938 1 516 9153 - - Admin
./. - c.507C>T r.(=) p.(=) g.70444064C>T - GJB1_000005 rs373334326 0.001938 1 516 8900 - - Admin
./. - c.*34C>A r.(=) p.(=) g.70444443C>A - GJB1_000006 rs113014279 0.005952 3 504 1946 - - Admin
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