All transcript variants in gene OR13H1

Information The variants shown are described using the NM_001004486.1 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.3G>A r.? p.? g.130678050G>A Copied from the Exome Variant Server OR13H1_000001 1/10563 0/6728 1/3835
?/? c.77C>T r.(?) p.(Thr26Met) g.130678124C>T Copied from the Exome Variant Server OR13H1_000002 17/10563 2/6728 15/3835
?/? c.97A>G r.(?) p.(Ile33Val) g.130678144A>G Copied from the Exome Variant Server OR13H1_000003 1/10563 1/6728 0/3835
?/? c.134T>C r.(?) p.(Met45Thr) g.130678181T>C Copied from the Exome Variant Server OR13H1_000004 1/10563 0/6728 1/3835
?/? c.139del r.(?) p.(Ile49Phefs*21) g.130678186del Copied from the Exome Variant Server OR13H1_000005 26/10205 11/6484 15/3721
?/? c.184T>C r.(?) p.(Phe62Leu) g.130678231T>C Copied from the Exome Variant Server OR13H1_000006 5/10563 0/6728 5/3835
?/? c.191G>A r.(?) p.(Ser64Asn) g.130678238G>A Copied from the Exome Variant Server OR13H1_000007 1/10563 1/6728 0/3835
?/? c.240G>A r.(=) p.(=) g.130678287G>A Copied from the Exome Variant Server OR13H1_000008 14/10563 0/6728 14/3835
?/? c.295G>A r.(?) p.(Ala99Thr) g.130678342G>A Copied from the Exome Variant Server OR13H1_000009 1/10563 0/6728 1/3835
?/? c.302C>T r.(?) p.(Thr101Met) g.130678349C>T Copied from the Exome Variant Server OR13H1_000010 15/10563 15/6728 0/3835
?/? c.344T>C r.(?) p.(Leu115Pro) g.130678391T>C Copied from the Exome Variant Server OR13H1_000011 1/10563 0/6728 1/3835
?/? c.348_352del r.(?) p.(Ala117Glyfs*3) g.130678395_130678399del Copied from the Exome Variant Server OR13H1_000012 90/10205 72/6484 18/3721
?/? c.365G>A r.(?) p.(Arg122His) g.130678412G>A Copied from the Exome Variant Server OR13H1_000013 2/10563 2/6728 0/3835
?/? c.420A>G r.(=) p.(=) g.130678467A>G Copied from the Exome Variant Server OR13H1_000014 7387/10563 4237/6728 3150/3835
?/? c.445T>C r.(?) p.(Trp149Arg) g.130678492T>C Copied from the Exome Variant Server OR13H1_000015 1/10563 0/6728 1/3835
?/? c.454T>C r.(?) p.(Ser152Pro) g.130678501T>C Copied from the Exome Variant Server OR13H1_000016 5/10563 0/6728 5/3835
?/? c.463C>T r.(?) p.(Leu155Phe) g.130678510C>T Copied from the Exome Variant Server OR13H1_000017 1/10563 0/6728 1/3835
?/? c.549C>G r.(=) p.(=) g.130678596C>G Copied from the Exome Variant Server OR13H1_000018 2641/10563 2432/6728 209/3835
?/? c.551T>A r.(?) p.(Ile184Asn) g.130678598T>A Copied from the Exome Variant Server OR13H1_000019 2/10563 1/6728 1/3835
?/? c.555G>T r.(?) p.(Lys185Asn) g.130678602G>T Copied from the Exome Variant Server OR13H1_000020 1/10563 1/6728 0/3835
?/? c.655C>T r.(?) p.(Arg219*) g.130678702C>T Copied from the Exome Variant Server OR13H1_000021 2/10563 2/6728 0/3835
?/? c.745A>G r.(?) p.(Ile249Val) g.130678792A>G Copied from the Exome Variant Server OR13H1_000022 1/10563 1/6728 0/3835
?/? c.784C>T r.(?) p.(Gln262*) g.130678831C>T Copied from the Exome Variant Server OR13H1_000023 1/10563 1/6728 0/3835
?/? c.797A>C r.(?) p.(Tyr266Ser) g.130678844A>C Copied from the Exome Variant Server OR13H1_000024 7388/10563 4237/6728 3151/3835
?/? c.813_815del r.(?) p.(Lys271_Phe272delinsAsn) g.130678860_130678862del Copied from the Exome Variant Server OR13H1_000025 7/10205 5/6484 2/3721
?/? c.818T>A r.(?) p.(Ile273Asn) g.130678865T>A Copied from the Exome Variant Server OR13H1_000026 1/10562 1/6728 0/3834
?/? c.821_823del r.(?) p.(Ser274_Val275delinsLeu) g.130678868_130678870del Copied from the Exome Variant Server OR13H1_000027 6/10204 5/6484 1/3720
?/? c.825G>A r.(=) p.(=) g.130678872G>A Copied from the Exome Variant Server OR13H1_000028 1/10563 0/6728 1/3835
?/? c.850T>A r.(?) p.(Leu284Met) g.130678897T>A Copied from the Exome Variant Server OR13H1_000029 1/10563 1/6728 0/3835
?/? c.883G>T r.(?) p.(Asp295Tyr) g.130678930G>T Copied from the Exome Variant Server OR13H1_000030 2/10560 2/6725 0/3835
?/? c.885T>A r.(?) p.(Asp295Glu) g.130678932T>A Copied from the Exome Variant Server OR13H1_000031 1/10559 1/6724 0/3835
?/? c.893G>A r.(?) p.(Arg298Gln) g.130678940G>A Copied from the Exome Variant Server OR13H1_000032 16/10549 13/6718 3/3831
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