Full data view for gene OR51E1

Information The variants shown are described using the NM_152430.3 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.-39-7A>G r.(=) p.(=) g.4673711A>G Copied from the Exome Variant Server OR51E1_000001 7/12998 1/8596 6/4402 - - - - - - -
?/? c.-10C>T r.(=) p.(=) g.4673747C>T Copied from the Exome Variant Server OR51E1_000002 4/12998 0/8596 4/4402 - - - - - - -
?/? c.17A>G r.(?) p.(Asn6Ser) g.4673773A>G Copied from the Exome Variant Server OR51E1_000003 1/12998 1/8596 0/4402 - - - - - - -
?/? c.18T>C r.(=) p.(=) g.4673774T>C Copied from the Exome Variant Server OR51E1_000004 1/12998 0/8596 1/4402 - - - - - - -
?/? c.32G>A r.(?) p.(Ser11Asn) g.4673788G>A Copied from the Exome Variant Server OR51E1_000005 1100/12998 985/8596 115/4402 - - - - - - -
?/? c.38C>T r.(?) p.(Thr13Ile) g.4673794C>T Copied from the Exome Variant Server OR51E1_000006 4/12998 4/8596 0/4402 - - - - - - -
?/? c.73G>A r.(?) p.(Glu25Lys) g.4673829G>A Copied from the Exome Variant Server OR51E1_000007 2/12998 2/8596 0/4402 - - - - - - -
?/? c.115C>T r.(?) p.(Leu39Phe) g.4673871C>T Copied from the Exome Variant Server OR51E1_000008 1/12998 1/8596 0/4402 - - - - - - -
?/? c.140C>T r.(?) p.(Thr47Ile) g.4673896C>T Copied from the Exome Variant Server OR51E1_000009 1/12998 1/8596 0/4402 - - - - - - -
?/? c.177_178insGA r.(?) p.(Pro61Serfs*99) g.4673933_4673934insGA Copied from the Exome Variant Server OR51E1_000010 13/12512 12/8248 1/4264 - - - - - - -
?/? c.218A>G r.(?) p.(Asp73Gly) g.4673974A>G Copied from the Exome Variant Server OR51E1_000011 3/12998 3/8596 0/4402 - - - - - - -
?/? c.260T>G r.(?) p.(Ile87Ser) g.4674016T>G Copied from the Exome Variant Server OR51E1_000012 2/12998 0/8596 2/4402 - - - - - - -
?/? c.327C>A r.(=) p.(=) g.4674083C>A Copied from the Exome Variant Server OR51E1_000013 1/12998 1/8596 0/4402 - - - - - - -
?/? c.401G>A r.(?) p.(Arg134His) g.4674157G>A Copied from the Exome Variant Server OR51E1_000014 1/12998 1/8596 0/4402 - - - - - - -
?/? c.466G>A r.(?) p.(Ala156Thr) g.4674222G>A Copied from the Exome Variant Server OR51E1_000015 1/12998 1/8596 0/4402 - - - - - - -
?/? c.517C>T r.(?) p.(Arg173Cys) g.4674273C>T Copied from the Exome Variant Server OR51E1_000016 3/12998 3/8596 0/4402 - - - - - - -
?/? c.518G>A r.(?) p.(Arg173His) g.4674274G>A Copied from the Exome Variant Server OR51E1_000017 3/12998 0/8596 3/4402 - - - - - - -
?/? c.521C>G r.(?) p.(Ser174Cys) g.4674277C>G Copied from the Exome Variant Server OR51E1_000018 1/12998 1/8596 0/4402 - - - - - - -
?/? c.526A>G r.(?) p.(Ile176Val) g.4674282A>G Copied from the Exome Variant Server OR51E1_000019 36/12998 34/8596 2/4402 - - - - - - -
?/? c.580G>A r.(?) p.(Asp194Asn) g.4674336G>A Copied from the Exome Variant Server OR51E1_000020 3/12998 3/8596 0/4402 - - - - - - -
?/? c.586C>T r.(?) p.(Arg196Trp) g.4674342C>T Copied from the Exome Variant Server OR51E1_000021 2/12998 2/8596 0/4402 - - - - - - -
?/? c.587G>A r.(?) p.(Arg196Gln) g.4674343G>A Copied from the Exome Variant Server OR51E1_000022 73/12998 62/8596 11/4402 - - - - - - -
?/? c.593A>G r.(?) p.(Asn198Ser) g.4674349A>G Copied from the Exome Variant Server OR51E1_000023 1/12998 0/8596 1/4402 - - - - - - -
?/? c.624C>T r.(=) p.(=) g.4674380C>T Copied from the Exome Variant Server OR51E1_000024 1/12998 1/8596 0/4402 - - - - - - -
?/? c.625G>A r.(?) p.(Ala209Thr) g.4674381G>A Copied from the Exome Variant Server OR51E1_000025 1/12998 0/8596 1/4402 - - - - - - -
?/? c.632G>C r.(?) p.(Gly211Ala) g.4674388G>C Copied from the Exome Variant Server OR51E1_000026 1/12998 1/8596 0/4402 - - - - - - -
?/? c.648C>T r.(=) p.(=) g.4674404C>T Copied from the Exome Variant Server OR51E1_000027 1/12998 0/8596 1/4402 - - - - - - -
?/? c.697C>T r.(?) p.(Arg233Cys) g.4674453C>T Copied from the Exome Variant Server OR51E1_000028 1/12998 1/8596 0/4402 - - - - - - -
?/? c.698G>A r.(?) p.(Arg233His) g.4674454G>A Copied from the Exome Variant Server OR51E1_000029 1/12998 0/8596 1/4402 - - - - - - -
?/? c.729C>T r.(=) p.(=) g.4674485C>T Copied from the Exome Variant Server OR51E1_000030 6/12998 0/8596 6/4402 - - - - - - -
?/? c.730G>A r.(?) p.(Val244Ile) g.4674486G>A Copied from the Exome Variant Server OR51E1_000031 3/12998 3/8596 0/4402 - - - - - - -
?/? c.743G>A r.(?) p.(Cys248Tyr) g.4674499G>A Copied from the Exome Variant Server OR51E1_000032 1/12998 1/8596 0/4402 - - - - - - -
?/? c.793C>T r.(?) p.(Arg265Cys) g.4674549C>T Copied from the Exome Variant Server OR51E1_000033 1/12998 1/8596 0/4402 - - - - - - -
?/? c.809G>A r.(?) p.(Arg270His) g.4674565G>A Copied from the Exome Variant Server OR51E1_000034 1/12998 1/8596 0/4402 - - - - - - -
?/? c.818C>T r.(?) p.(Pro273Leu) g.4674574C>T Copied from the Exome Variant Server OR51E1_000035 3/12998 3/8596 0/4402 - - - - - - -
?/? c.819G>A r.(=) p.(=) g.4674575G>A Copied from the Exome Variant Server OR51E1_000037 5728/12998 4662/8596 1066/4402 - - - - - - -
?/? c.826G>A r.(?) p.(Val276Ile) g.4674582G>A Copied from the Exome Variant Server OR51E1_000039 6/12998 0/8596 6/4402 - - - - - - -
?/? c.870C>T r.(=) p.(=) g.4674626C>T Copied from the Exome Variant Server OR51E1_000041 1/12998 1/8596 0/4402 - - - - - - -
?/? c.896A>G r.(?) p.(Lys299Arg) g.4674652A>G Copied from the Exome Variant Server OR51E1_000042 48/12998 47/8596 1/4402 - - - - - - -
?/? c.929A>G r.(?) p.(His310Arg) g.4674685A>G Copied from the Exome Variant Server OR51E1_000036 1/12998 0/8596 1/4402 - - - - - - -
?/? c.943G>A r.(?) p.(Ala315Thr) g.4674699G>A Copied from the Exome Variant Server OR51E1_000038 1/12998 1/8596 0/4402 - - - - - - -
?/? c.*51T>A r.(=) p.(=) g.4674764T>A Copied from the Exome Variant Server OR51E1_000040 78/12490 71/8212 7/4278 - - - - - - -
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