All transcript variants in gene PTEN

Information The variants shown are described using the NM_000314.4 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-32C>T r.(=) p.(=) g.89624195C>T Copied from the Exome Variant Server PTEN_000001 1/13006 1/8600 0/4406
?/? c.-9C>G r.(=) p.(=) g.89624218C>G Copied from the Exome Variant Server PTEN_000002 2/13006 2/8600 0/4406
?/? c.79+7A>G r.(=) p.(=) g.89624312A>G Copied from the Exome Variant Server PTEN_000003 2/13006 2/8600 0/4406
?/? c.79+33T>A r.(=) p.(=) g.89624338T>A Copied from the Exome Variant Server PTEN_000004 1/13006 1/8600 0/4406
?/? c.79+35C>T r.(=) p.(=) g.89624340C>T Copied from the Exome Variant Server PTEN_000005 10/13006 9/8600 1/4406
?/? c.79+46T>G r.(=) p.(=) g.89624351T>G Copied from the Exome Variant Server PTEN_000006 1/13006 0/8600 1/4406
?/? c.80-23C>A r.(=) p.(=) g.89653759C>A Copied from the Exome Variant Server PTEN_000007 1/12992 0/8586 1/4406
?/? c.132C>T r.(=) p.(=) g.89653834C>T Copied from the Exome Variant Server PTEN_000008 19/12996 19/8590 0/4406
?/? c.164+42T>C r.(=) p.(=) g.89653908T>C Copied from the Exome Variant Server PTEN_000009 1/12978 1/8574 0/4404
?/? c.210-39A>G r.(=) p.(=) g.89690764A>G Copied from the Exome Variant Server PTEN_000010 8/12974 6/8574 2/4400
?/? c.210-12_210-8del r.(=) p.(=) g.89690791_89690795del Copied from the Exome Variant Server PTEN_000011 74/12492 63/8230 11/4262
?/? c.234C>T r.(=) p.(=) g.89690827C>T Copied from the Exome Variant Server PTEN_000012 1/12994 0/8590 1/4404
?/? c.253+69_253+71del r.(=) p.(=) g.89690915_89690917del Copied from the Exome Variant Server PTEN_000013 2/12490 2/8238 0/4252
?/? c.254-39_254-38insT r.(=) p.(=) g.89692731_89692732insT Copied from the Exome Variant Server PTEN_000014 155/12492 133/8244 22/4248
?/? c.254-34T>G r.(=) p.(=) g.89692736T>G Copied from the Exome Variant Server PTEN_000015 23/12992 0/8590 23/4402
?/? c.261A>G r.(=) p.(=) g.89692777A>G Copied from the Exome Variant Server PTEN_000016 2/13006 0/8600 2/4406
?/? c.279T>C r.(=) p.(=) g.89692795T>C Copied from the Exome Variant Server PTEN_000017 1/13006 0/8600 1/4406
?/? c.321T>C r.(=) p.(=) g.89692837T>C Copied from the Exome Variant Server PTEN_000018 1/13000 1/8594 0/4406
?/? c.355G>C r.(?) p.(Val119Leu) g.89692871G>C Copied from the Exome Variant Server PTEN_000019 1/13002 1/8596 0/4406
?/? c.404T>C r.(?) p.(Ile135Thr) g.89692920T>C Copied from the Exome Variant Server PTEN_000020 1/13006 1/8600 0/4406
?/? c.411A>G r.(=) p.(=) g.89692927A>G Copied from the Exome Variant Server PTEN_000021 1/13006 1/8600 0/4406
?/? c.492G>A r.(=) p.(=) g.89693008G>A Copied from the Exome Variant Server PTEN_000022 1/13006 0/8600 1/4406
?/? c.573G>A r.(=) p.(=) g.89711955G>A Copied from the Exome Variant Server PTEN_000023 1/13006 1/8600 0/4406
?/? c.624C>T r.(=) p.(=) g.89712006C>T Copied from the Exome Variant Server PTEN_000024 1/13006 0/8600 1/4406
?/? c.634+39C>T r.(=) p.(=) g.89712055C>T Copied from the Exome Variant Server PTEN_000025 1/13004 0/8598 1/4406
?/? c.659T>C r.(?) p.(Leu220Pro) g.89717634T>C Copied from the Exome Variant Server PTEN_000026 1/13006 1/8600 0/4406
?/? c.801+23G>A r.(=) p.(=) g.89717799G>A Copied from the Exome Variant Server PTEN_000027 15/13006 2/8600 13/4406
?/? c.801+28A>G r.(=) p.(=) g.89717804A>G Copied from the Exome Variant Server PTEN_000029 1/13006 0/8600 1/4406
?/? c.802-17_802-16del r.(=) p.(=) g.89720634_89720635del Copied from the Exome Variant Server PTEN_000031 261/11504 170/7796 91/3708
?/? c.802-17_802-16dup r.(=) p.(=) g.89720634_89720635dup Copied from the Exome Variant Server PTEN_000033 228/11504 104/7796 124/3708
?/? c.802-16del r.(=) p.(=) g.89720635del Copied from the Exome Variant Server PTEN_000028 2250/11504 1491/7796 759/3708
?/? c.802-16dup r.(=) p.(=) g.89720635dup Copied from the Exome Variant Server PTEN_000034 1613/11504 1135/7796 478/3708
?/? c.831A>G r.(=) p.(=) g.89720680A>G Copied from the Exome Variant Server PTEN_000030 1/12962 1/8570 0/4392
?/? c.882T>G r.(?) p.(Ser294Arg) g.89720731T>G Copied from the Exome Variant Server PTEN_000032 4/13002 0/8596 4/4406
?/? c.889G>T r.(?) p.(Asp297Tyr) g.89720738G>T Copied from the Exome Variant Server PTEN_000035 1/13004 1/8598 0/4406
?/? c.892C>G r.(?) p.(Gln298Glu) g.89720741C>G Copied from the Exome Variant Server PTEN_000036 3/13004 1/8598 2/4406
?/? c.1026+32T>G r.(=) p.(=) g.89720907T>G Copied from the Exome Variant Server PTEN_000037 4911/12970 2810/8584 2101/4386
?/? c.1026+36_1026+37insT r.(=) p.(=) g.89720911_89720912insT Copied from the Exome Variant Server PTEN_000038 2/12456 0/8226 2/4230
?/? c.1061C>T r.(?) p.(Pro354Leu) g.89725078C>T Copied from the Exome Variant Server PTEN_000039 1/13006 0/8600 1/4406
?/? c.1104T>C r.(=) p.(=) g.89725121T>C Copied from the Exome Variant Server PTEN_000040 21/12962 0/8560 21/4402
?/? c.1197A>G r.(=) p.(=) g.89725214A>G Copied from the Exome Variant Server PTEN_000041 2/12838 0/8528 2/4310
?/? c.*48T>C r.(=) p.(=) g.89725277T>C Copied from the Exome Variant Server PTEN_000042 1/12844 0/8538 1/4306
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