Full data view for gene OR5H2

Information The variants shown are described using the NM_001005482.1 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.5C>T r.(?) p.(Ser2Leu) g.98001736C>T Copied from the Exome Variant Server OR5H2_000001 8/13006 2/8600 6/4406 - - - - - - -
?/? c.19G>C r.(?) p.(Glu7Gln) g.98001750G>C Copied from the Exome Variant Server OR5H2_000002 2/13006 2/8600 0/4406 - - - - - - -
?/? c.42G>T r.(=) p.(=) g.98001773G>T Copied from the Exome Variant Server OR5H2_000003 19/13006 0/8600 19/4406 - - - - - - -
?/? c.46G>C r.(?) p.(Glu16Gln) g.98001777G>C Copied from the Exome Variant Server OR5H2_000004 1700/13006 1036/8600 664/4406 - - - - - - -
?/? c.59C>T r.(?) p.(Thr20Ile) g.98001790C>T Copied from the Exome Variant Server OR5H2_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.95_103del r.(?) p.(Phe36_Val38del) g.98001826_98001834del Copied from the Exome Variant Server OR5H2_000006 14/12520 0/8254 14/4266 - - - - - - -
?/? c.102G>C r.(?) p.(Leu34Phe) g.98001833G>C Copied from the Exome Variant Server OR5H2_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.115A>C r.(?) p.(Ile39Leu) g.98001846A>C Copied from the Exome Variant Server OR5H2_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.126C>G r.(?) p.(Ile42Met) g.98001857C>G Copied from the Exome Variant Server OR5H2_000009 4/13006 0/8600 4/4406 - - - - - - -
?/? c.127A>G r.(?) p.(Thr43Ala) g.98001858A>G Copied from the Exome Variant Server OR5H2_000010 84/13006 78/8600 6/4406 - - - - - - -
?/? c.131_132insTG r.(?) p.(Trp46Cysfs*6) g.98001862_98001863insTG Copied from the Exome Variant Server OR5H2_000011 1/12498 0/8234 1/4264 - - - - - - -
?/? c.191T>A r.(?) p.(Met64Lys) g.98001922T>A Copied from the Exome Variant Server OR5H2_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.223G>A r.(?) p.(Asp75Asn) g.98001954G>A Copied from the Exome Variant Server OR5H2_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.298T>A r.(?) p.(Ser100Thr) g.98002029T>A Copied from the Exome Variant Server OR5H2_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.315A>T r.(?) p.(Gln105His) g.98002046A>T Copied from the Exome Variant Server OR5H2_000015 20/13006 0/8600 20/4406 - - - - - - -
?/? c.327T>C r.(=) p.(=) g.98002058T>C Copied from the Exome Variant Server OR5H2_000016 4/13006 0/8600 4/4406 - - - - - - -
?/? c.350G>A r.(?) p.(Cys117Tyr) g.98002081G>A Copied from the Exome Variant Server OR5H2_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.372A>G r.(=) p.(=) g.98002103A>G Copied from the Exome Variant Server OR5H2_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.443G>A r.(?) p.(Arg148Gln) g.98002174G>A Copied from the Exome Variant Server OR5H2_000019 3/13006 0/8600 3/4406 - - - - - - -
?/? c.457T>C r.(?) p.(Ser153Pro) g.98002188T>C Copied from the Exome Variant Server OR5H2_000020 29/13006 0/8600 29/4406 - - - - - - -
?/? c.479A>T r.(?) p.(His160Leu) g.98002210A>T Copied from the Exome Variant Server OR5H2_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.500T>A r.(?) p.(Leu167His) g.98002231T>A Copied from the Exome Variant Server OR5H2_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.549C>T r.(=) p.(=) g.98002280C>T Copied from the Exome Variant Server OR5H2_000023 158/12998 1/8594 157/4404 - - - - - - -
?/? c.561A>G r.(?) p.(Ile187Met) g.98002292A>G Copied from the Exome Variant Server OR5H2_000024 1/13000 0/8596 1/4404 - - - - - - -
?/? c.588del r.(?) p.(Pro197Leufs*6) g.98002319del Copied from the Exome Variant Server OR5H2_000025 90/12514 86/8248 4/4266 - - - - - - -
?/? c.620T>G r.(?) p.(Leu207Trp) g.98002351T>G Copied from the Exome Variant Server OR5H2_000026 2/13004 0/8598 2/4406 - - - - - - -
?/? c.669C>T r.(=) p.(=) g.98002400C>T Copied from the Exome Variant Server OR5H2_000027 2/13006 2/8600 0/4406 - - - - - - -
?/? c.686C>T r.(?) p.(Thr229Ile) g.98002417C>T Copied from the Exome Variant Server OR5H2_000028 5/13006 5/8600 0/4406 - - - - - - -
?/? c.688A>G r.(?) p.(Ile230Val) g.98002419A>G Copied from the Exome Variant Server OR5H2_000029 1701/13006 1037/8600 664/4406 - - - - - - -
?/? c.706G>A r.(?) p.(Val236Ile) g.98002437G>A Copied from the Exome Variant Server OR5H2_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.714C>T r.(=) p.(=) g.98002445C>T Copied from the Exome Variant Server OR5H2_000031 424/13006 20/8600 404/4406 - - - - - - -
?/? c.715G>A r.(?) p.(Val239Ile) g.98002446G>A Copied from the Exome Variant Server OR5H2_000032 24/13006 1/8600 23/4406 - - - - - - -
?/? c.766T>C r.(?) p.(Tyr256His) g.98002497T>C Copied from the Exome Variant Server OR5H2_000033 10/13006 0/8600 10/4406 - - - - - - -
?/? c.796C>T r.(?) p.(Arg266Cys) g.98002527C>T Copied from the Exome Variant Server OR5H2_000034 86/13006 80/8600 6/4406 - - - - - - -
?/? c.845T>C r.(?) p.(Phe282Ser) g.98002576T>C Copied from the Exome Variant Server OR5H2_000035 117/13006 0/8600 117/4406 - - - - - - -
?/? c.856A>G r.(?) p.(Ile286Val) g.98002587A>G Copied from the Exome Variant Server OR5H2_000036 4791/13006 2102/8600 2689/4406 - - - - - - -
?/? c.905T>C r.(?) p.(Val302Ala) g.98002636T>C Copied from the Exome Variant Server OR5H2_000037 3/12984 3/8590 0/4394 - - - - - - -
?/? c.945G>A r.(=) p.(=) g.98002676G>A Copied from the Exome Variant Server OR5H2_000038 1/12672 0/8446 1/4226 - - - - - - -
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