All transcript variants in gene FXYD5

Information The variants shown are described using the NM_014164.5 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.16C>T r.(?) p.(Arg6Cys) g.35646469C>T Copied from the Exome Variant Server FXYD5_000001 2/13006 2/8600 0/4406
?/? c.36C>T r.(=) p.(=) g.35646489C>T Copied from the Exome Variant Server FXYD5_000002 1/13006 1/8600 0/4406
?/? c.52C>T r.(?) p.(Pro18Ser) g.35646505C>T Copied from the Exome Variant Server FXYD5_000003 1/13006 0/8600 1/4406
?/? c.61+10A>T r.(=) p.(=) g.35646524A>T Copied from the Exome Variant Server FXYD5_000004 8/13006 0/8600 8/4406
?/? c.61+37C>T r.(=) p.(=) g.35646551C>T Copied from the Exome Variant Server FXYD5_000005 2/13006 0/8600 2/4406
?/? c.62-60G>A r.(=) p.(=) g.35648264G>A Copied from the Exome Variant Server FXYD5_000006 512/4566 442/3182 70/1384
?/? c.62-44del r.(=) p.(=) g.35648280del Copied from the Exome Variant Server FXYD5_000007 10/12518 8/8254 2/4264
?/? c.62-40G>A r.(=) p.(=) g.35648284G>A Copied from the Exome Variant Server FXYD5_000008 1/13006 1/8600 0/4406
?/? c.62-37C>A r.(=) p.(=) g.35648287C>A Copied from the Exome Variant Server FXYD5_000009 1/13006 1/8600 0/4406
?/? c.62-33C>G r.(=) p.(=) g.35648291C>G Copied from the Exome Variant Server FXYD5_000010 470/13006 423/8600 47/4406
?/? c.68C>T r.(?) p.(Thr23Met) g.35648330C>T Copied from the Exome Variant Server FXYD5_000011 4/13006 4/8600 0/4406
?/? c.69G>A r.(=) p.(=) g.35648331G>A Copied from the Exome Variant Server FXYD5_000012 9/13006 7/8600 2/4406
?/? c.77A>T r.(?) p.(Asp26Val) g.35648339A>T Copied from the Exome Variant Server FXYD5_000013 2/13006 1/8600 1/4406
?/? c.84G>A r.(=) p.(=) g.35648346G>A Copied from the Exome Variant Server FXYD5_000014 1/13006 0/8600 1/4406
?/? c.95C>T r.(?) p.(Ser32Leu) g.35648357C>T Copied from the Exome Variant Server FXYD5_000015 16/13006 0/8600 16/4406
?/? c.103T>G r.(?) p.(Ser35Ala) g.35648365T>G Copied from the Exome Variant Server FXYD5_000016 3599/13006 2165/8600 1434/4406
?/? c.107C>A r.(?) p.(Thr36Asn) g.35648369C>A Copied from the Exome Variant Server FXYD5_000017 1/13006 1/8600 0/4406
?/? c.129G>A r.(=) p.(=) g.35648391G>A Copied from the Exome Variant Server FXYD5_000018 1/13006 1/8600 0/4406
?/? c.134G>A r.(?) p.(Arg45Gln) g.35648396G>A Copied from the Exome Variant Server FXYD5_000019 2/13006 0/8600 2/4406
?/? c.142+18T>A r.(=) p.(=) g.35648422T>A Copied from the Exome Variant Server FXYD5_000020 37/13006 33/8600 4/4406
?/? c.142+33T>C r.(=) p.(=) g.35648437T>C Copied from the Exome Variant Server FXYD5_000021 1/13006 1/8600 0/4406
?/? c.143-53A>C r.(=) p.(=) g.35649194A>C Copied from the Exome Variant Server FXYD5_000022 171/4566 40/3182 131/1384
?/? c.143-44T>C r.(=) p.(=) g.35649203T>C Copied from the Exome Variant Server FXYD5_000023 10/13006 9/8600 1/4406
?/? c.143-26C>T r.(=) p.(=) g.35649221C>T Copied from the Exome Variant Server FXYD5_000024 1/13006 1/8600 0/4406
?/? c.143-25G>A r.(=) p.(=) g.35649222G>A Copied from the Exome Variant Server FXYD5_000025 3/13006 2/8600 1/4406
?/? c.177A>G r.(=) p.(=) g.35649281A>G Copied from the Exome Variant Server FXYD5_000026 2433/13006 1469/8600 964/4406
?/? c.199+21C>G r.(=) p.(=) g.35649324C>G Copied from the Exome Variant Server FXYD5_000027 10487/13006 6696/8600 3791/4406
?/? c.199+32G>A r.(=) p.(=) g.35649335G>A Copied from the Exome Variant Server FXYD5_000028 118/13006 106/8600 12/4406
?/? c.199+49G>A r.(=) p.(=) g.35649352G>A Copied from the Exome Variant Server FXYD5_000029 492/13006 416/8600 76/4406
?/? c.199+73T>A r.(=) p.(=) g.35649376T>A Copied from the Exome Variant Server FXYD5_000030 45/4566 3/3182 42/1384
?/? c.205C>T r.(?) p.(Pro69Ser) g.35651617C>T Copied from the Exome Variant Server FXYD5_000031 1/13006 1/8600 0/4406
?/? c.213C>T r.(=) p.(=) g.35651625C>T Copied from the Exome Variant Server FXYD5_000032 1/13006 0/8600 1/4406
?/? c.242C>T r.(?) p.(Thr81Met) g.35651654C>T Copied from the Exome Variant Server FXYD5_000033 9/13006 1/8600 8/4406
?/? c.243G>C r.(=) p.(=) g.35651655G>C Copied from the Exome Variant Server FXYD5_000034 1/13006 0/8600 1/4406
?/? c.262G>A r.(?) p.(Asp88Asn) g.35651674G>A Copied from the Exome Variant Server FXYD5_000035 1/13006 0/8600 1/4406
?/? c.272C>T r.(?) p.(Thr91Ile) g.35651684C>T Copied from the Exome Variant Server FXYD5_000036 125/13006 1/8600 124/4406
?/? c.292+22A>C r.(=) p.(=) g.35651726A>C Copied from the Exome Variant Server FXYD5_000037 1/13006 1/8600 0/4406
?/? c.292+40T>C r.(=) p.(=) g.35651744T>C Copied from the Exome Variant Server FXYD5_000038 1/13006 1/8600 0/4406
?/? c.293-2A>G r.spl? p.? g.35655057A>G Copied from the Exome Variant Server FXYD5_000039 1/13006 1/8600 0/4406
?/? c.317C>T r.(?) p.(Thr106Met) g.35655083C>T Copied from the Exome Variant Server FXYD5_000040 2/13006 2/8600 0/4406
?/? c.318G>A r.(=) p.(=) g.35655084G>A Copied from the Exome Variant Server FXYD5_000041 1/13006 0/8600 1/4406
?/? c.325G>A r.(?) p.(Glu109Lys) g.35655091G>A Copied from the Exome Variant Server FXYD5_000042 1/13006 1/8600 0/4406
?/? c.348C>T r.(=) p.(=) g.35655114C>T Copied from the Exome Variant Server FXYD5_000043 1/13006 1/8600 0/4406
?/? c.349G>A r.(?) p.(Val117Ile) g.35655115G>A Copied from the Exome Variant Server FXYD5_000044 123/13006 1/8600 122/4406
?/? c.377C>T r.(?) p.(Pro126Leu) g.35655143C>T Copied from the Exome Variant Server FXYD5_000045 1/13006 1/8600 0/4406
?/? c.381T>A r.(=) p.(=) g.35655147T>A Copied from the Exome Variant Server FXYD5_000046 1/13006 1/8600 0/4406
?/? c.382+3T>C r.spl? p.? g.35655151T>C Copied from the Exome Variant Server FXYD5_000047 10486/13006 6718/8600 3768/4406
?/? c.382+6T>C r.(=) p.(=) g.35655154T>C Copied from the Exome Variant Server FXYD5_000048 1/13006 1/8600 0/4406
?/? c.382+36T>G r.(=) p.(=) g.35655184T>G Copied from the Exome Variant Server FXYD5_000049 5/13006 5/8600 0/4406
?/? c.383-85A>G r.(=) p.(=) g.35656960A>G Copied from the Exome Variant Server FXYD5_000050 31/4566 27/3182 4/1384
?/? c.383-62del r.(=) p.(=) g.35656983del Copied from the Exome Variant Server FXYD5_000051 66/12518 59/8254 7/4264
?/? c.383-41C>T r.(=) p.(=) g.35657004C>T Copied from the Exome Variant Server FXYD5_000052 1/13006 1/8600 0/4406
?/? c.383-4C>G r.spl? p.? g.35657041C>G Copied from the Exome Variant Server FXYD5_000053 1/13006 0/8600 1/4406
?/? c.402C>T r.(=) p.(=) g.35657064C>T Copied from the Exome Variant Server FXYD5_000054 1/13006 1/8600 0/4406
?/? c.412+37G>C r.(=) p.(=) g.35657111G>C Copied from the Exome Variant Server FXYD5_000055 3/13006 0/8600 3/4406
?/? c.428G>A r.(?) p.(Arg143Gln) g.35657169G>A Copied from the Exome Variant Server FXYD5_000056 3/13006 1/8600 2/4406
?/? c.459G>A r.(=) p.(=) g.35657200G>A Copied from the Exome Variant Server FXYD5_000057 1/13006 0/8600 1/4406
?/? c.487+55C>T r.(=) p.(=) g.35657283C>T Copied from the Exome Variant Server FXYD5_000058 1/4566 0/3182 1/1384
?/? c.487+56G>T r.(=) p.(=) g.35657284G>T Copied from the Exome Variant Server FXYD5_000059 177/4566 157/3182 20/1384
?/? c.488-52T>C r.(=) p.(=) g.35660417T>C Copied from the Exome Variant Server FXYD5_000060 1/10300 1/7164 0/3136
?/? c.488-29C>T r.(=) p.(=) g.35660440C>T Copied from the Exome Variant Server FXYD5_000061 2/13006 2/8600 0/4406
?/? c.488-28G>A r.(=) p.(=) g.35660441G>A Copied from the Exome Variant Server FXYD5_000062 13/13006 11/8600 2/4406
?/? c.488-20A>C r.(=) p.(=) g.35660449A>C Copied from the Exome Variant Server FXYD5_000063 1/13006 0/8600 1/4406
?/? c.488-19T>C r.(=) p.(=) g.35660450T>C Copied from the Exome Variant Server FXYD5_000064 4735/13006 3278/8600 1457/4406
?/? c.512G>A r.(?) p.(Arg171Gln) g.35660493G>A Copied from the Exome Variant Server FXYD5_000065 2/13006 0/8600 2/4406
?/? c.527G>A r.(?) p.(Arg176His) g.35660508G>A Copied from the Exome Variant Server FXYD5_000066 10857/13006 6690/8600 4167/4406
?/? c.534G>A r.(=) p.(=) g.35660515G>A Copied from the Exome Variant Server FXYD5_000067 3/13006 2/8600 1/4406
?/? c.536G>A r.(=) p.(=) g.35660517G>A Copied from the Exome Variant Server FXYD5_000068 1/13006 0/8600 1/4406
?/? c.*3C>G r.(=) p.(=) g.35660521C>G Copied from the Exome Variant Server FXYD5_000069 1/13006 0/8600 1/4406
?/? c.*28T>C r.(=) p.(=) g.35660546T>C Copied from the Exome Variant Server FXYD5_000070 4749/13006 3287/8600 1462/4406
?/? c.*29G>A r.(=) p.(=) g.35660547G>A Copied from the Exome Variant Server FXYD5_000071 1/13006 0/8600 1/4406
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