Full data view for gene PLP1

Information The variants shown are described using the NM_000533.3 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.-31C>T r.(=) p.(=) g.103031893C>T Copied from the Exome Variant Server PLP1_000001 2/10563 2/6728 0/3835 - - - - - - -
?/? c.5-45C>A r.(=) p.(=) g.103040466C>A Copied from the Exome Variant Server PLP1_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.18C>T r.(=) p.(=) g.103040524C>T Copied from the Exome Variant Server PLP1_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.93G>A r.(=) p.(=) g.103040599G>A Copied from the Exome Variant Server PLP1_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.168A>G r.(=) p.(=) g.103040674A>G Copied from the Exome Variant Server PLP1_000005 2/10563 2/6728 0/3835 - - - - - - -
?/? c.191+17C>T r.(=) p.(=) g.103040714C>T Copied from the Exome Variant Server PLP1_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.191+31C>A r.(=) p.(=) g.103040728C>A Copied from the Exome Variant Server PLP1_000007 2/10563 2/6728 0/3835 - - - - - - -
?/? c.191+52C>A r.(=) p.(=) g.103040749C>A Copied from the Exome Variant Server PLP1_000008 2/6038 0/3621 2/2417 - - - - - - -
?/? c.255C>T r.(=) p.(=) g.103041457C>T Copied from the Exome Variant Server PLP1_000009 5/10563 5/6728 0/3835 - - - - - - -
?/? c.454-47_454-41del r.(=) p.(=) g.103042680_103042686del Copied from the Exome Variant Server PLP1_000010 7/10205 7/6484 0/3721 - - - - - - -
?/? c.454-41G>C r.(=) p.(=) g.103042686G>C Copied from the Exome Variant Server PLP1_000011 2/10563 0/6728 2/3835 - - - - - - -
?/? c.454-39T>C r.(=) p.(=) g.103042688T>C Copied from the Exome Variant Server PLP1_000012 1/10563 0/6728 1/3835 - - - - - - -
?/? c.454-24A>G r.(=) p.(=) g.103042703A>G Copied from the Exome Variant Server PLP1_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.549C>A r.(=) p.(=) g.103042822C>A Copied from the Exome Variant Server PLP1_000014 1/10563 0/6728 1/3835 - - - - - - -
?/? c.609T>C r.(=) p.(=) g.103042882T>C Copied from the Exome Variant Server PLP1_000015 2589/10563 2100/6728 489/3835 - - - - - - -
?/? c.610G>C r.(?) p.(Ala204Pro) g.103042883G>C Copied from the Exome Variant Server PLP1_000016 2/10563 0/6728 2/3835 - - - - - - -
?/? c.622+8A>G r.(=) p.(=) g.103042903A>G Copied from the Exome Variant Server PLP1_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.622+14C>T r.(=) p.(=) g.103042909C>T Copied from the Exome Variant Server PLP1_000018 1/10563 1/6728 0/3835 - - - - - - -
?/? c.622+28C>G r.(=) p.(=) g.103042923C>G Copied from the Exome Variant Server PLP1_000019 240/10563 223/6728 17/3835 - - - - - - -
?/? c.622+42G>A r.(=) p.(=) g.103042937G>A Copied from the Exome Variant Server PLP1_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.622+51A>T r.(=) p.(=) g.103042946A>T Copied from the Exome Variant Server PLP1_000021 2/10561 2/6726 0/3835 - - - - - - -
?/? c.623-46G>A r.(=) p.(=) g.103043320G>A Copied from the Exome Variant Server PLP1_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.623-33G>A r.(=) p.(=) g.103043333G>A Copied from the Exome Variant Server PLP1_000023 1/10563 0/6728 1/3835 - - - - - - -
?/? c.696+58C>A r.(=) p.(=) g.103043497C>A Copied from the Exome Variant Server PLP1_000024 5/3600 5/2391 0/1209 - - - - - - -
?/? c.697-44C>T r.(=) p.(=) g.103044218C>T Copied from the Exome Variant Server PLP1_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.697-22del r.(=) p.(=) g.103044240del Copied from the Exome Variant Server PLP1_000026 1/10205 1/6484 0/3721 - - - - - - -
?/? c.762+34T>C r.(=) p.(=) g.103044361T>C Copied from the Exome Variant Server PLP1_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.763-52G>A r.(=) p.(=) g.103045403G>A Copied from the Exome Variant Server PLP1_000028 15/8125 15/5498 0/2627 - - - - - - -
?/? c.763-20C>A r.(=) p.(=) g.103045435C>A Copied from the Exome Variant Server PLP1_000029 3/10563 3/6728 0/3835 - - - - - - -
?/? c.799G>A r.(?) p.(Val267Ile) g.103045491G>A Copied from the Exome Variant Server PLP1_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*6C>T r.(=) p.(=) g.103045532C>T Copied from the Exome Variant Server PLP1_000031 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*33G>A r.(=) p.(=) g.103045559G>A Copied from the Exome Variant Server PLP1_000032 1/10563 1/6728 0/3835 - - - - - - -
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