Full data view for gene FHL5

Information The variants shown are described using the NM_020482.4 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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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.-12-11G>T r.(=) p.(=) g.97051467G>T Copied from the Exome Variant Server FHL5_000001 2/13006 0/8600 2/4406 - - - - - - -
?/? c.-12-10T>C r.(=) p.(=) g.97051468T>C Copied from the Exome Variant Server FHL5_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-12-4A>G r.spl? p.? g.97051474A>G Copied from the Exome Variant Server FHL5_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.32G>A r.(?) p.(Cys11Tyr) g.97051521G>A Copied from the Exome Variant Server FHL5_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.38C>T r.(?) p.(Ala13Val) g.97051527C>T Copied from the Exome Variant Server FHL5_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.70G>T r.(?) p.(Asp24Tyr) g.97051559G>T Copied from the Exome Variant Server FHL5_000007 6/13006 0/8600 6/4406 - - - - - - -
?/? c.103C>T r.(?) p.(Arg35Cys) g.97051592C>T Copied from the Exome Variant Server FHL5_000009 2/13006 1/8600 1/4406 - - - - - - -
?/? c.104G>A r.(?) p.(Arg35His) g.97051593G>A Copied from the Exome Variant Server FHL5_000011 357/13006 318/8600 39/4406 - - - - - - -
?/? c.117C>T r.(=) p.(=) g.97051606C>T Copied from the Exome Variant Server FHL5_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.124G>A r.(?) p.(Glu42Lys) g.97051613G>A Copied from the Exome Variant Server FHL5_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.143T>C r.(?) p.(Ile48Thr) g.97051632T>C Copied from the Exome Variant Server FHL5_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.159+4A>T r.spl? p.? g.97051652A>T Copied from the Exome Variant Server FHL5_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.159+12C>G r.(=) p.(=) g.97051660C>G Copied from the Exome Variant Server FHL5_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.159+32C>T r.(=) p.(=) g.97051680C>T Copied from the Exome Variant Server FHL5_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.160-40C>G r.(=) p.(=) g.97052586C>G Copied from the Exome Variant Server FHL5_000015 3/13006 0/8600 3/4406 - - - - - - -
?/? c.160-24_160-21del r.(=) p.(=) g.97052602_97052605del Copied from the Exome Variant Server FHL5_000016 1/12518 0/8254 1/4264 - - - - - - -
?/? c.178C>T r.(?) p.(Arg60Trp) g.97052644C>T Copied from the Exome Variant Server FHL5_000017 31/13006 0/8600 31/4406 - - - - - - -
?/? c.231G>C r.(=) p.(=) g.97052697G>C Copied from the Exome Variant Server FHL5_000018 150/13006 2/8600 148/4406 - - - - - - -
?/? c.237G>A r.(=) p.(=) g.97052703G>A Copied from the Exome Variant Server FHL5_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.288C>T r.(=) p.(=) g.97052754C>T Copied from the Exome Variant Server FHL5_000020 2154/13006 1671/8600 483/4406 - - - - - - -
?/? c.333T>C r.(=) p.(=) g.97052799T>C Copied from the Exome Variant Server FHL5_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.334+3A>G r.spl? p.? g.97052803A>G Copied from the Exome Variant Server FHL5_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.341G>A r.(?) p.(Arg114His) g.97053784G>A Copied from the Exome Variant Server FHL5_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.379T>C r.(?) p.(Cys127Arg) g.97053822T>C Copied from the Exome Variant Server FHL5_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.400C>T r.(?) p.(Arg134*) g.97053843C>T Copied from the Exome Variant Server FHL5_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.403C>T r.(?) p.(Gln135*) g.97053846C>T Copied from the Exome Variant Server FHL5_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.505-50T>C r.(=) p.(=) g.97058398T>C Copied from the Exome Variant Server FHL5_000027 3/13006 3/8600 0/4406 - - - - - - -
?/? c.505-45T>G r.(=) p.(=) g.97058403T>G Copied from the Exome Variant Server FHL5_000028 30/13006 28/8600 2/4406 - - - - - - -
?/? c.505-15T>C r.(=) p.(=) g.97058433T>C Copied from the Exome Variant Server FHL5_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.505-11G>C r.(=) p.(=) g.97058437G>C Copied from the Exome Variant Server FHL5_000030 3/13006 3/8600 0/4406 - - - - - - -
?/? c.517G>A r.(?) p.(Gly173Ser) g.97058460G>A Copied from the Exome Variant Server FHL5_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.534T>C r.(=) p.(=) g.97058477T>C Copied from the Exome Variant Server FHL5_000032 10/13006 9/8600 1/4406 - - - - - - -
?/? c.559T>C r.(?) p.(Phe187Leu) g.97058502T>C Copied from the Exome Variant Server FHL5_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.572G>A r.(?) p.(Gly191Asp) g.97058515G>A Copied from the Exome Variant Server FHL5_000034 8/13006 8/8600 0/4406 - - - - - - -
?/? c.590G>C r.(?) p.(Cys197Ser) g.97058533G>C Copied from the Exome Variant Server FHL5_000035 2/13006 0/8600 2/4406 - - - - - - -
?/? c.610A>G r.(?) p.(Arg204Gly) g.97058553A>G Copied from the Exome Variant Server FHL5_000036 5106/13006 2876/8600 2230/4406 - - - - - - -
?/? c.615C>T r.(=) p.(=) g.97058558C>T Copied from the Exome Variant Server FHL5_000037 16/13006 1/8600 15/4406 - - - - - - -
?/? c.624A>G r.(=) p.(=) g.97058567A>G Copied from the Exome Variant Server FHL5_000038 2165/13006 1673/8600 492/4406 - - - - - - -
?/? c.630C>T r.(=) p.(=) g.97058573C>T Copied from the Exome Variant Server FHL5_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.631G>A r.(?) p.(Val211Met) g.97058574G>A Copied from the Exome Variant Server FHL5_000040 3676/13006 3248/8600 428/4406 - - - - - - -
?/? c.671C>T r.(?) p.(Ala224Val) g.97058614C>T Copied from the Exome Variant Server FHL5_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.674G>T r.(?) p.(Cys225Phe) g.97058617G>T Copied from the Exome Variant Server FHL5_000042 11/13006 0/8600 11/4406 - - - - - - -
?/? c.691+27T>C r.(=) p.(=) g.97058661T>C Copied from the Exome Variant Server FHL5_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.691+45A>T r.(=) p.(=) g.97058679A>T Copied from the Exome Variant Server FHL5_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.692-46G>C r.(=) p.(=) g.97063439G>C Copied from the Exome Variant Server FHL5_000045 28/13006 3/8600 25/4406 - - - - - - -
?/? c.713T>C r.(?) p.(Ile238Thr) g.97063506T>C Copied from the Exome Variant Server FHL5_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.729C>G r.(?) p.(Ser243Arg) g.97063522C>G Copied from the Exome Variant Server FHL5_000047 5005/13006 2868/8600 2137/4406 - - - - - - -
?/? c.745T>A r.(?) p.(Cys249Ser) g.97063538T>A Copied from the Exome Variant Server FHL5_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.756C>T r.(=) p.(=) g.97063549C>T Copied from the Exome Variant Server FHL5_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.757G>A r.(?) p.(Gly253Arg) g.97063550G>A Copied from the Exome Variant Server FHL5_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.759G>A r.(=) p.(=) g.97063552G>A Copied from the Exome Variant Server FHL5_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.762A>G r.(=) p.(=) g.97063555A>G Copied from the Exome Variant Server FHL5_000052 5032/13006 2871/8600 2161/4406 - - - - - - -
?/? c.767C>G r.(?) p.(Ser256Cys) g.97063560C>G Copied from the Exome Variant Server FHL5_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.841G>A r.(?) p.(Asp281Asn) g.97063634G>A Copied from the Exome Variant Server FHL5_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.852C>A r.(=) p.(=) g.97063645C>A Copied from the Exome Variant Server FHL5_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*39G>A r.(=) p.(=) g.97063687G>A Copied from the Exome Variant Server FHL5_000056 6/13006 0/8600 6/4406 - - - - - - -
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