All transcript variants in gene PLEKHA8

Information The variants shown are described using the NM_032639.3 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.41-4T>C r.spl? p.? g.30084697T>C Copied from the Exome Variant Server PLEKHA8_000003 7/13006 0/8600 7/4406
?/? c.157+12A>T r.(=) p.(=) g.30084829A>T Copied from the Exome Variant Server PLEKHA8_000005 7/13006 0/8600 7/4406
?/? c.157+38_157+39del r.(=) p.(=) g.30084855_30084856del Copied from the Exome Variant Server PLEKHA8_000007 60/12518 1/8254 59/4264
?/? c.158-42G>A r.(=) p.(=) g.30085784G>A Copied from the Exome Variant Server PLEKHA8_000009 1/13006 1/8600 0/4406
?/? c.158-40G>A r.(=) p.(=) g.30085786G>A Copied from the Exome Variant Server PLEKHA8_000011 1/13006 1/8600 0/4406
?/? c.207G>A r.(=) p.(=) g.30085875G>A Copied from the Exome Variant Server PLEKHA8_000013 1/13006 1/8600 0/4406
?/? c.277G>A r.(?) p.(Ala93Thr) g.30085945G>A Copied from the Exome Variant Server PLEKHA8_000015 1/13006 0/8600 1/4406
?/? c.314-31G>A r.(=) p.(=) g.30087417G>A Copied from the Exome Variant Server PLEKHA8_000017 1/13006 0/8600 1/4406
?/? c.314-23A>G r.(=) p.(=) g.30087425A>G Copied from the Exome Variant Server PLEKHA8_000019 6/13006 0/8600 6/4406
?/? c.330T>G r.(=) p.(=) g.30087464T>G Copied from the Exome Variant Server PLEKHA8_000021 1/13004 1/8598 0/4406
?/? c.336C>T r.(=) p.(=) g.30087470C>T Copied from the Exome Variant Server PLEKHA8_000023 1/13004 1/8598 0/4406
?/? c.403A>G r.(?) p.(Lys135Glu) g.30087537A>G Copied from the Exome Variant Server PLEKHA8_000025 1/13004 1/8598 0/4406
?/? c.439-25G>A r.(=) p.(=) g.30088815G>A Copied from the Exome Variant Server PLEKHA8_000001 23/13006 0/8600 23/4406
?/? c.439-24T>G r.(=) p.(=) g.30088816T>G Copied from the Exome Variant Server PLEKHA8_000002 2/13006 0/8600 2/4406
?/? c.450T>A r.(?) p.(Asp150Glu) g.30088851T>A Copied from the Exome Variant Server PLEKHA8_000004 7/13006 0/8600 7/4406
?/? c.451G>A r.(?) p.(Val151Met) g.30088852G>A Copied from the Exome Variant Server PLEKHA8_000006 2/13006 0/8600 2/4406
?/? c.516C>T r.(=) p.(=) g.30088917C>T Copied from the Exome Variant Server PLEKHA8_000008 1/13006 0/8600 1/4406
?/? c.580A>G r.(?) p.(Met194Val) g.30088981A>G Copied from the Exome Variant Server PLEKHA8_000010 40/13006 0/8600 40/4406
?/? c.598-48T>A r.(=) p.(=) g.30090002T>A Copied from the Exome Variant Server PLEKHA8_000012 109/12924 3/8560 106/4364
?/? c.598-33_598-32del r.(=) p.(=) g.30090017_30090018del Copied from the Exome Variant Server PLEKHA8_000014 1/12452 0/8218 1/4234
?/? c.598-24T>C r.(=) p.(=) g.30090026T>C Copied from the Exome Variant Server PLEKHA8_000016 26/12946 1/8570 25/4376
?/? c.604C>T r.(?) p.(His202Tyr) g.30090056C>T Copied from the Exome Variant Server PLEKHA8_000018 1/12922 0/8550 1/4372
?/? c.639-37G>A r.(=) p.(=) g.30092288G>A Copied from the Exome Variant Server PLEKHA8_000020 5/12856 0/8548 5/4308
?/? c.671C>A r.(?) p.(Ser224Tyr) g.30092357C>A Copied from the Exome Variant Server PLEKHA8_000022 1/12970 1/8584 0/4386
?/? c.712A>C r.(?) p.(Lys238Gln) g.30092398A>C Copied from the Exome Variant Server PLEKHA8_000024 2/12924 0/8564 2/4360
?/? c.742G>T r.(?) p.(Ala248Ser) g.30092428G>T Copied from the Exome Variant Server PLEKHA8_000026 1/12940 1/8580 0/4360
?/? c.791T>C r.(?) p.(Ile264Thr) g.30092477T>C Copied from the Exome Variant Server PLEKHA8_000027 1/12940 1/8582 0/4358
?/? c.796+28A>G r.(=) p.(=) g.30092510A>G Copied from the Exome Variant Server PLEKHA8_000028 2/12878 2/8548 0/4330
?/? c.796+44T>C r.(=) p.(=) g.30092526T>C Copied from the Exome Variant Server PLEKHA8_000029 1/12806 1/8520 0/4286
?/? c.797-32T>G r.(=) p.(=) g.30094293T>G Copied from the Exome Variant Server PLEKHA8_000030 1/12952 1/8578 0/4374
?/? c.801A>G r.(=) p.(=) g.30094329A>G Copied from the Exome Variant Server PLEKHA8_000031 46/13006 0/8600 46/4406
?/? c.803G>A r.(?) p.(Gly268Asp) g.30094331G>A Copied from the Exome Variant Server PLEKHA8_000032 15/13006 0/8600 15/4406
?/? c.849C>T r.(=) p.(=) g.30094377C>T Copied from the Exome Variant Server PLEKHA8_000033 1/13006 1/8600 0/4406
?/? c.864G>A r.(=) p.(=) g.30094392G>A Copied from the Exome Variant Server PLEKHA8_000034 2/13006 0/8600 2/4406
?/? c.890C>T r.(?) p.(Pro297Leu) g.30094418C>T Copied from the Exome Variant Server PLEKHA8_000035 1/13006 0/8600 1/4406
?/? c.939T>A r.(?) p.(Ser313Arg) g.30094467T>A Copied from the Exome Variant Server PLEKHA8_000036 3/13006 1/8600 2/4406
?/? c.953+19_953+20insA r.(=) p.(=) g.30094500_30094501insA Copied from the Exome Variant Server PLEKHA8_000037 1/12516 1/8252 0/4264
?/? c.953+40A>G r.(=) p.(=) g.30094521A>G Copied from the Exome Variant Server PLEKHA8_000038 1/13006 1/8600 0/4406
?/? c.954-47A>T r.(=) p.(=) g.30094826A>T Copied from the Exome Variant Server PLEKHA8_000039 1/13006 1/8600 0/4406
?/? c.954-41T>C r.(=) p.(=) g.30094832T>C Copied from the Exome Variant Server PLEKHA8_000040 1/13006 1/8600 0/4406
?/? c.954-22T>C r.(=) p.(=) g.30094851T>C Copied from the Exome Variant Server PLEKHA8_000041 1/13006 0/8600 1/4406
?/? c.954-19A>G r.(=) p.(=) g.30094854A>G Copied from the Exome Variant Server PLEKHA8_000042 20/13006 0/8600 20/4406
?/? c.954-17A>G r.(=) p.(=) g.30094856A>G Copied from the Exome Variant Server PLEKHA8_000043 1/13006 1/8600 0/4406
?/? c.1032A>C r.(=) p.(=) g.30094951A>C Copied from the Exome Variant Server PLEKHA8_000044 1/13006 0/8600 1/4406
?/? c.1039+12G>A r.(=) p.(=) g.30094970G>A Copied from the Exome Variant Server PLEKHA8_000045 1/13006 1/8600 0/4406
?/? c.1039+15G>A r.(=) p.(=) g.30094973G>A Copied from the Exome Variant Server PLEKHA8_000046 26/13006 26/8600 0/4406
?/? c.1039+22_1039+23insA r.(=) p.(=) g.30094980_30094981insA Copied from the Exome Variant Server PLEKHA8_000047 1/12518 1/8254 0/4264
?/? c.1039+29A>G r.(=) p.(=) g.30094987A>G Copied from the Exome Variant Server PLEKHA8_000048 1/13006 1/8600 0/4406
?/? c.1040-27A>G r.(=) p.(=) g.30100473A>G Copied from the Exome Variant Server PLEKHA8_000049 2/13004 2/8598 0/4406
?/? c.1040-13_1040-9del r.(=) p.(=) g.30100487_30100491del Copied from the Exome Variant Server PLEKHA8_000050 13/12518 9/8254 4/4264
?/? c.1058T>C r.(?) p.(Val353Ala) g.30100518T>C Copied from the Exome Variant Server PLEKHA8_000051 4/13006 0/8600 4/4406
?/? c.1098+59T>G r.(=) p.(=) g.30100617T>G Copied from the Exome Variant Server PLEKHA8_000052 1/4566 1/3182 0/1384
?/? c.1098+61T>G r.(=) p.(=) g.30100619T>G Copied from the Exome Variant Server PLEKHA8_000053 3/4566 0/3182 3/1384
?/? c.1098+71G>T r.(=) p.(=) g.30100629G>T Copied from the Exome Variant Server PLEKHA8_000054 1/4566 1/3182 0/1384
?/? c.1162C>T r.(?) p.(His388Tyr) g.30101576C>T Copied from the Exome Variant Server PLEKHA8_000055 1/13000 1/8594 0/4406
?/? c.1183G>A r.(?) p.(Ala395Thr) g.30101597G>A Copied from the Exome Variant Server PLEKHA8_000056 1/13002 1/8596 0/4406
?/? c.1229+9G>C r.(=) p.(=) g.30101652G>C Copied from the Exome Variant Server PLEKHA8_000057 2/13006 0/8600 2/4406
?/? c.1229+40C>G r.(=) p.(=) g.30101683C>G Copied from the Exome Variant Server PLEKHA8_000058 2256/13006 1384/8600 872/4406
?/? c.1230-14T>C r.(=) p.(=) g.30102274T>C Copied from the Exome Variant Server PLEKHA8_000059 6/13004 6/8598 0/4406
?/? c.1237A>G r.(?) p.(Lys413Glu) g.30102295A>G Copied from the Exome Variant Server PLEKHA8_000060 29/13006 27/8600 2/4406
?/? c.1293A>T r.(=) p.(=) g.30102351A>T Copied from the Exome Variant Server PLEKHA8_000062 15/13006 12/8600 3/4406
?/? c.1297C>G r.(?) p.(Leu433Val) g.30102355C>G Copied from the Exome Variant Server PLEKHA8_000064 1/13006 1/8600 0/4406
?/? c.1300+12T>G r.(=) p.(=) g.30102370T>G Copied from the Exome Variant Server PLEKHA8_000061 6/13004 6/8600 0/4404
?/? c.1300+14A>G r.(=) p.(=) g.30102372A>G Copied from the Exome Variant Server PLEKHA8_000063 1/13004 1/8600 0/4404
?/? c.1300+11337T>C r.(=) p.(=) g.30113695T>C Copied from the Exome Variant Server PLEKHA8_000065 1/5734 1/3982 0/1752
?/? c.1300+11348A>G r.(=) p.(=) g.30113706A>G Copied from the Exome Variant Server PLEKHA8_000066 1664/5734 942/3982 722/1752
?/? c.1301-11607A>T r.(=) p.(=) g.30118162A>T Copied from the Exome Variant Server PLEKHA8_000067 1/5734 1/3982 0/1752
?/? c.1301-11531T>C r.(=) p.(=) g.30118238T>C Copied from the Exome Variant Server PLEKHA8_000068 1/5734 1/3982 0/1752
?/? c.1301-11522C>T r.(=) p.(=) g.30118247C>T Copied from the Exome Variant Server PLEKHA8_000069 1/5734 1/3982 0/1752
?/? c.1301-11409_1301-11408insAT r.(=) p.(=) g.30118360_30118361insAT Copied from the Exome Variant Server PLEKHA8_000070 1/12518 1/8254 0/4264
?/? c.1301-11404del r.(=) p.(=) g.30118365del Copied from the Exome Variant Server PLEKHA8_000071 1/12518 1/8254 0/4264
?/? c.1301-11361del r.(=) p.(=) g.30118408del Copied from the Exome Variant Server PLEKHA8_000072 1/12516 0/8254 1/4262
?/? c.1301-56del r.(=) p.(=) g.30129713del Copied from the Exome Variant Server PLEKHA8_000073 8/8018 2/5096 6/2922
?/? c.1301-22A>G r.(=) p.(=) g.30129747A>G Copied from the Exome Variant Server PLEKHA8_000074 25/7272 0/4618 25/2654
?/? c.*17G>A r.(=) p.(=) g.30129808G>A Copied from the Exome Variant Server PLEKHA8_000075 188/7272 169/4618 19/2654
?/? c.*35C>G r.(=) p.(=) g.30129826C>G Copied from the Exome Variant Server PLEKHA8_000076 1/7272 1/4618 0/2654
?/? c.*41T>G r.(=) p.(=) g.30129832T>G Copied from the Exome Variant Server PLEKHA8_000077 1/7272 1/4618 0/2654
?/? c.*61A>G r.(=) p.(=) g.30129852A>G Copied from the Exome Variant Server PLEKHA8_000078 4/4566 0/3182 4/1384
?/? c.*72A>T r.(=) p.(=) g.30129863A>T Copied from the Exome Variant Server PLEKHA8_000079 1/4566 1/3182 0/1384
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