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)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 - c.717+441A>G r.(=) p.(=) g.12088170A>G dbSNP DHTKD1_000001 0.117 Admin
./. 1 - c.1671+502A>G r.(=) p.(=) g.12098498A>G dbSNP DHTKD1_000002 0.288 Admin
./. 1 - c.1757-181C>T - - g.12100861C>T dbSNP DHTKD1_000003 0.968 Admin
./. 1 - c.1820C>G - - g.12101105C>G dbSNP DHTKD1_000004 0.305 Admin
./. 1 - c.1937A>G - - g.12106286A>G dbSNP DHTKD1_000005 0.970 Admin
./. 1 - c.2078A>G - - g.12107939A>G dbSNP DHTKD1_000006 0.155 Admin
./. 1 - c.2155-67C>T r.(=) p.(=) g.12112833C>T dbSNP DHTKD1_000007 0.364 Admin
./. 1 - c.2522A>G - - g.12118868A>G dbSNP DHTKD1_000008 0.989 Admin
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