Full data view for gene PHB

Information The variants shown are described using the NM_002634.2 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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.-17G>A r.(=) p.(=) g.47490643C>T Copied from the Exome Variant Server PHB_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.88+14G>A r.(=) p.(=) g.47490525C>T Copied from the Exome Variant Server PHB_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.128G>T r.(?) p.(Arg43Leu) g.47489162C>A Copied from the Exome Variant Server PHB_000039 82/13006 76/8600 6/4406 - - - - - - -
?/? c.129T>G r.(=) p.(=) g.47489161A>C Copied from the Exome Variant Server PHB_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.182T>C r.(?) p.(Val61Ala) g.47489108A>G Copied from the Exome Variant Server PHB_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.218C>T r.(?) p.(Pro73Leu) g.47489072G>A Copied from the Exome Variant Server PHB_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.250+14A>G r.(=) p.(=) g.47489026T>C Copied from the Exome Variant Server PHB_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.250+43G>C r.(=) p.(=) g.47488997C>G Copied from the Exome Variant Server PHB_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.297C>T r.(=) p.(=) g.47486789G>A Copied from the Exome Variant Server PHB_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.360G>A r.(=) p.(=) g.47486726C>T Copied from the Exome Variant Server PHB_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.393+9A>G r.(=) p.(=) g.47486684T>C Copied from the Exome Variant Server PHB_000031 1519/13006 36/8600 1483/4406 - - - - - - -
?/? c.393+27G>A r.(=) p.(=) g.47486666C>T Copied from the Exome Variant Server PHB_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.393+32C>T r.(=) p.(=) g.47486661G>A Copied from the Exome Variant Server PHB_000029 2/13006 0/8600 2/4406 - - - - - - -
?/? c.394-52_394-51insA r.(=) p.(=) g.47486571_47486572insT Copied from the Exome Variant Server PHB_000028 4/12518 4/8254 0/4264 - - - - - - -
?/? c.394-7A>G r.(=) p.(=) g.47486527T>C Copied from the Exome Variant Server PHB_000027 9/13006 9/8600 0/4406 - - - - - - -
?/? c.398G>A r.(?) p.(Arg133His) g.47486516C>T Copied from the Exome Variant Server PHB_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.444G>T r.(?) p.(Arg148Ser) g.47486470C>A Copied from the Exome Variant Server PHB_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.453C>T r.(=) p.(=) g.47486461G>A Copied from the Exome Variant Server PHB_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.510+13G>A r.(=) p.(=) g.47486391C>T Copied from the Exome Variant Server PHB_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.510+46C>T r.(=) p.(=) g.47486358G>A Copied from the Exome Variant Server PHB_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.511-45G>A r.(=) p.(=) g.47484261C>T Copied from the Exome Variant Server PHB_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.511-33C>G r.(=) p.(=) g.47484249G>C Copied from the Exome Variant Server PHB_000020 10/13006 5/8600 5/4406 - - - - - - -
?/? c.511-12C>G r.(=) p.(=) g.47484228G>C Copied from the Exome Variant Server PHB_000019 3103/13006 2807/8600 296/4406 - - - - - - -
?/? c.540A>G r.(=) p.(=) g.47484187T>C Copied from the Exome Variant Server PHB_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.545C>T r.(?) p.(Ala182Val) g.47484182G>A Copied from the Exome Variant Server PHB_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.546G>A r.(=) p.(=) g.47484181C>T Copied from the Exome Variant Server PHB_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.606+11G>A r.(=) p.(=) g.47484110C>T Copied from the Exome Variant Server PHB_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.606+34C>T r.(=) p.(=) g.47484087G>A Copied from the Exome Variant Server PHB_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.606+47G>A r.(=) p.(=) g.47484074C>T Copied from the Exome Variant Server PHB_000013 2/13006 0/8600 2/4406 - - - - - - -
?/? c.607-44G>A r.(=) p.(=) g.47482610C>T Copied from the Exome Variant Server PHB_000012 3/12792 2/8452 1/4340 - - - - - - -
?/? c.607-43G>A r.(=) p.(=) g.47482609C>T Copied from the Exome Variant Server PHB_000011 1/12808 0/8466 1/4342 - - - - - - -
?/? c.607-15C>T r.(=) p.(=) g.47482581G>A Copied from the Exome Variant Server PHB_000010 1/12964 1/8566 0/4398 - - - - - - -
?/? c.626C>T r.(?) p.(Ala209Val) g.47482547G>A Copied from the Exome Variant Server PHB_000009 1/13002 1/8596 0/4406 - - - - - - -
?/? c.648C>T r.(=) p.(=) g.47482525G>A Copied from the Exome Variant Server PHB_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.678C>T r.(=) p.(=) g.47482495G>A Copied from the Exome Variant Server PHB_000007 5/13006 4/8600 1/4406 - - - - - - -
?/? c.709G>A r.(?) p.(Glu237Lys) g.47482464C>T Copied from the Exome Variant Server PHB_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.753C>T r.(=) p.(=) g.47482420G>A Copied from the Exome Variant Server PHB_000005 66/13006 0/8600 66/4406 - - - - - - -
?/? c.785C>T r.(?) p.(Ala262Val) g.47482388G>A Copied from the Exome Variant Server PHB_000004 1/12992 1/8590 0/4402 - - - - - - -
?/? c.*10C>G r.(=) p.(=) g.47482344G>C Copied from the Exome Variant Server PHB_000003 3/12710 0/8410 3/4300 - - - - - - -
?/? c.*24G>A r.(=) p.(=) g.47482330C>T Copied from the Exome Variant Server PHB_000002 1/12424 0/8224 1/4200 - - - - - - -
?/? c.*25C>T r.(=) p.(=) g.47482329G>A Copied from the Exome Variant Server PHB_000001 4/12398 3/8202 1/4196 - - - - - - -
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