Unique variants in gene PLP2

Information The variants shown are described using the NM_002668.2 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-37C>T r.(=) p.(=) g.49028311C>T Copied from the Exome Variant Server PLP2_000001 1/10551 1/6724 0/3827
1 c.5C>T r.(?) p.(Ala2Val) g.49028352C>T Copied from the Exome Variant Server PLP2_000002 1/10563 0/6728 1/3835
1 c.16C>T r.(?) p.(Arg6Cys) g.49028363C>T Copied from the Exome Variant Server PLP2_000003 97/10563 85/6728 12/3835
1 c.55T>G r.(?) p.(Phe19Val) g.49028402T>G Copied from the Exome Variant Server PLP2_000004 1/10563 1/6728 0/3835
1 c.96+35G>C r.(=) p.(=) g.49028478G>C Copied from the Exome Variant Server PLP2_000005 8/10557 8/6724 0/3833
1 c.97-47A>G r.(=) p.(=) g.49029429A>G Copied from the Exome Variant Server PLP2_000006 2/10563 0/6728 2/3835
1 c.135C>A r.(=) p.(=) g.49029514C>A Copied from the Exome Variant Server PLP2_000007 1/10563 0/6728 1/3835
1 c.198C>T r.(=) p.(=) g.49029577C>T Copied from the Exome Variant Server PLP2_000008 1/10563 0/6728 1/3835
1 c.249+9G>T r.(=) p.(=) g.49029637G>T Copied from the Exome Variant Server PLP2_000009 1/10563 0/6728 1/3835
1 c.249+36G>A r.(=) p.(=) g.49029664G>A Copied from the Exome Variant Server PLP2_000010 2/10563 0/6728 2/3835
1 c.249+52_249+53insT r.(=) p.(=) g.49029680_49029681insT Copied from the Exome Variant Server PLP2_000011 3/10205 0/6484 3/3721
1 c.250-50C>T r.(=) p.(=) g.49029685C>T Copied from the Exome Variant Server PLP2_000012 62/10563 51/6728 11/3835
1 c.250-44A>C r.(=) p.(=) g.49029691A>C Copied from the Exome Variant Server PLP2_000013 1/10563 1/6728 0/3835
1 c.250-20_250-18del r.(=) p.(=) g.49029715_49029717del Copied from the Exome Variant Server PLP2_000014 48/10205 29/6484 19/3721
1 c.265C>T r.(?) p.(Leu89Phe) g.49029750C>T Copied from the Exome Variant Server PLP2_000015 1/10563 1/6728 0/3835
1 c.273G>A r.(=) p.(=) g.49029758G>A Copied from the Exome Variant Server PLP2_000016 5/10563 3/6728 2/3835
1 c.334A>G r.(?) p.(Ile112Val) g.49029819A>G Copied from the Exome Variant Server PLP2_000017 1/10563 0/6728 1/3835
1 c.336C>T r.(=) p.(=) g.49029821C>T Copied from the Exome Variant Server PLP2_000018 1/10563 1/6728 0/3835
1 c.346-49T>A r.(=) p.(=) g.49030633T>A Copied from the Exome Variant Server PLP2_000019 1/10563 0/6728 1/3835
1 c.346-42del r.(=) p.(=) g.49030640del Copied from the Exome Variant Server PLP2_000020 18/10205 0/6484 18/3721
1 c.346-41C>T r.(=) p.(=) g.49030641C>T Copied from the Exome Variant Server PLP2_000021 101/10563 93/6728 8/3835
1 c.346-5C>G r.spl? p.? g.49030677C>G Copied from the Exome Variant Server PLP2_000022 13/10563 1/6728 12/3835
1 c.365C>T r.(?) p.(Thr122Met) g.49030701C>T Copied from the Exome Variant Server PLP2_000023 1/10563 1/6728 0/3835
1 c.366G>A r.(=) p.(=) g.49030702G>A Copied from the Exome Variant Server PLP2_000024 2/10563 2/6728 0/3835
1 c.400C>T r.(?) p.(Pro134Ser) g.49030736C>T Copied from the Exome Variant Server PLP2_000025 1/10563 1/6728 0/3835
1 c.414A>G r.(=) p.(=) g.49030750A>G Copied from the Exome Variant Server PLP2_000026 1/10563 0/6728 1/3835
1 c.424G>A r.(?) p.(Ala142Thr) g.49030760G>A Copied from the Exome Variant Server PLP2_000027 1/10563 1/6728 0/3835
1 c.425C>G r.(?) p.(Ala142Gly) g.49030761C>G Copied from the Exome Variant Server PLP2_000028 1/10563 0/6728 1/3835
1 c.434C>A r.(?) p.(Thr145Asn) g.49030770C>A Copied from the Exome Variant Server PLP2_000029 5/10563 4/6728 1/3835
1 c.436+5_436+8del r.spl? p.? g.49030777_49030780del Copied from the Exome Variant Server PLP2_000030 18/10205 7/6484 11/3721
1 c.436+7_436+8del r.(=) p.(=) g.49030779_49030780del Copied from the Exome Variant Server PLP2_000032 2368/10205 1145/6484 1223/3721
1 c.436+7_436+8dup r.(=) p.(=) g.49030779_49030780dup Copied from the Exome Variant Server PLP2_000031 9/10205 8/6484 1/3721
1 c.437-40T>C r.(=) p.(=) g.49030981T>C Copied from the Exome Variant Server PLP2_000033 11/10563 0/6728 11/3835
1 c.441C>T r.(=) p.(=) g.49031025C>T Copied from the Exome Variant Server PLP2_000034 1/10563 0/6728 1/3835
1 c.442G>T r.(?) p.(Ala148Ser) g.49031026G>T Copied from the Exome Variant Server PLP2_000035 5/10563 0/6728 5/3835
1 c.458A>G r.(?) p.(*153Trpext*39) g.49031042A>G Copied from the Exome Variant Server PLP2_000036 1/10563 1/6728 0/3835
1 c.*2C>T r.(=) p.(=) g.49031045C>T Copied from the Exome Variant Server PLP2_000037 2/10563 2/6728 0/3835
1 c.*17_*20del r.(=) p.(=) g.49031060_49031063del Copied from the Exome Variant Server PLP2_000038 1/10205 1/6484 0/3721
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