Unique variants in gene DHTKD1

Information The variants shown are described using the NM_018706.6 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Owner     
./. 1 - c.717+442A>G - r.(=) p.(=) g.12130170A>G dbSNP DHTKD1_000001 rs11257529 0.11824 Admin
./. 1 - c.1671+503A>G - - - g.12140498A>G dbSNP DHTKD1_000008 rs2062987 0.26520 Admin
./. 1 - c.1757-180C>T - r.(=) p.(=) g.12142861C>T dbSNP DHTKD1_000002 rs1701488 0.98311 Admin
./. 1 - c.1821C>G - r.(?) p.(Ile607Met) g.12143105C>G dbSNP DHTKD1_000003 rs2062988 0.27534 Admin
./. 1 - c.1938A>G - - - g.12148286A>G dbSNP DHTKD1_000004 rs1615510 0.97297 Admin
./. 1 - c.2079A>G - - - g.12149939A>G dbSNP DHTKD1_000005 rs1722462 0.13682 Admin
./. 1 - c.2155-66C>T - r.(=) p.(=) g.12154833C>T dbSNP DHTKD1_000006 rs1701470 0.36149 Admin
./. 1 - c.2523A>G - - - g.12160868A>G dbSNP DHTKD1_000007 rs12769375 0.98986 Admin
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