All variants in the HNF1A gene

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

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
+?/+? 1 c.-290G>A r.(=) p.(=) g.121416282G>A - HNF1A_000026 - Florian Bayersdorfer
?/? 1 c.-205G>A r.(=) p.(=) g.121416367G>A - HNF1A_000007 - Florian Bayersdorfer
+?/+? 1 c.-96T>G r.(=) p.(=) g.121416476T>G - HNF1A_000027 - Florian Bayersdorfer
-/+? 1 c.-4A>G r.(=) p.(=) g.121416568A>G - HNF1A_000004 - Sabine Heber
+/+ 1 c.2T>C r.? p.? g.121416573T>C - HNF1A_000012 - Florian Bayersdorfer
+/+ 1 c.24_35dup r.(?) p.(Gln9_Leu12dup) g.121416595_121416606dup - HNF1A_000013 - Florian Bayersdorfer
+/+ 1 c.235del r.(?) p.(Glu79Lysfs*76) g.121416806del - HNF1A_000006 - Florian Bayersdorfer
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) g.121426644C>T - HNF1A_000014 - Florian Bayersdorfer
+?/+? 2 c.336G>A r.(=) p.(Pro112=) g.121426645G>A - HNF1A_000002 - Sabine Heber
+?/+? 2 c.382A>T r.(?) p.(Ile128Phe) g.121426691A>T - HNF1A_000005 - Florian Bayersdorfer
+/+ 2 c.425C>T r.(?) p.(Ser142Phe) g.121426734C>T - HNF1A_000015 - Florian Bayersdorfer
+/+ 2 c.526C>T r.(?) p.(Gln176*) g.121426835C>T - HNF1A_000016 - Florian Bayersdorfer
?/? 3 c.693G>A r.(=) p.(=) g.121431489G>A - HNF1A_000008 - Florian Bayersdorfer
+/+ 3 c.713+1G>A r.spl? p.? g.121431510G>A - HNF1A_000011 - Florian Bayersdorfer
+/+ 4 c.811C>T r.(?) p.(Arg271Trp) g.121432064C>T - HNF1A_000017 - Florian Bayersdorfer
+/+ 4 c.824_826del r.(?) p.(Glu275del) g.121432077_121432079del - HNF1A_000018 - Florian Bayersdorfer
+/+ 4 c.864del r.(?) p.(Pro291Glnfs*51) g.121432117del - HNF1A_000020 - Florian Bayersdorfer
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) g.121432125dup - HNF1A_000019 - Florian Bayersdorfer
?/? 5 c.1061C>T r.(?) p.(Thr354Met) g.121434170C>T - HNF1A_000009 - Florian Bayersdorfer
+/+ 6 c.1124dup r.(?) p.(Leu377Profs*42) g.121434360dup - HNF1A_000021 - Florian Bayersdorfer
+/+ 6 c.1137del r.(?) p.(Val380Serfs*4) g.121434373del - HNF1A_000022 - Florian Bayersdorfer
+?/+? 7 c.1421_1424dup r.(?) p.(Leu476Alafs*74) g.121435388_121435391dup - HNF1A_000028 - Florian Bayersdorfer
./+ 7 c.1421_1424dupAGCC r.(?) p.(Leu476Alafs*74) g.121435388_121435391dupAGCC - HNF1A_000001 - Sabine Heber
?/? 8 c.1521C>G r.(=) p.(=) g.121437090C>G - HNF1A_000010 - Florian Bayersdorfer
+/+ 9 c.1748G>A r.(?) p.(Arg583Gln) g.121437410G>A - HNF1A_000023 - Florian Bayersdorfer
+/+ 10 c.1822_1823del r.(?) p.(Ser608Profs*40) g.121438921_121438922del - HNF1A_000024 - Florian Bayersdorfer
+/+ 10 c.1822_1829del r.(?) p.(Ser608Alafs*38) g.121438921_121438928del - HNF1A_000025 - Florian Bayersdorfer
+?/+? 10 c.1822_1829delAGCCACCT r.(?) p.(Ser608Alafs*38) g.121438921_121438928delAGCCACCT - HNF1A_000003 - Sabine Heber
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