View unique variants in gene HNF1A

Information The variants shown are described using the NM_000545.5 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
-/+? 1 1 c.-4A>G r.(=) p.(=) g.121416568A>G - HNF1A_000004 - Sabine Heber
+?/+? 1 2 c.336G>A r.(=) p.(Pro112=) g.121426645G>A - HNF1A_000002 - Sabine Heber
./+? 1 E2 c.382A>T r.(?) p.(Ile128Phe) g.121426691A>T - HNF1A_000005 - Florian Bayersdorfer
./+ 1 7 c.1421_1424dupAGCC r.(?) p.(Leu476Alafs*74) g.121435388_121435391dupAGCC - HNF1A_000001 - Sabine Heber
+?/+? 1 10 c.1822_1829delAGCCACCT r.(?) p.(Ser608Alafs*38) g.121438921_121438928delAGCCACCT - HNF1A_000003 - Sabine Heber
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