All transcript variants in gene PPP2R5B

Information The variants shown are described using the NM_006244.3 transcript reference sequence.

87 entries on 1 page. Showing entries 1 - 87.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-33G>A r.(=) p.(=) g.64693174G>A Copied from the Exome Variant Server PPP2R5B_000001 3/12342 3/8214 0/4128
?/? c.-27G>C r.(=) p.(=) g.64693180G>C Copied from the Exome Variant Server PPP2R5B_000002 3/12452 3/8280 0/4172
?/? c.33C>T r.(=) p.(=) g.64693239C>T Copied from the Exome Variant Server PPP2R5B_000003 1/12818 0/8502 1/4316
?/? c.51C>T r.(=) p.(=) g.64693257C>T Copied from the Exome Variant Server PPP2R5B_000004 2/12824 0/8510 2/4314
?/? c.127C>T r.(?) p.(Arg43Cys) g.64693333C>T Copied from the Exome Variant Server PPP2R5B_000005 3/12980 3/8586 0/4394
?/? c.128G>A r.(?) p.(Arg43His) g.64693334G>A Copied from the Exome Variant Server PPP2R5B_000006 1/12984 1/8588 0/4396
?/? c.141C>A r.(=) p.(=) g.64693347C>A Copied from the Exome Variant Server PPP2R5B_000007 3/12990 0/8592 3/4398
?/? c.183G>A r.(=) p.(=) g.64693389G>A Copied from the Exome Variant Server PPP2R5B_000008 25/12988 1/8590 24/4398
?/? c.199+30C>T r.(=) p.(=) g.64693435C>T Copied from the Exome Variant Server PPP2R5B_000009 1/12958 1/8576 0/4382
?/? c.199+38C>T r.(=) p.(=) g.64693443C>T Copied from the Exome Variant Server PPP2R5B_000010 1/12898 0/8536 1/4362
?/? c.199+39G>A r.(=) p.(=) g.64693444G>A Copied from the Exome Variant Server PPP2R5B_000011 1/12832 0/8492 1/4340
?/? c.200-16G>C r.(=) p.(=) g.64694168G>C Copied from the Exome Variant Server PPP2R5B_000012 1/12996 0/8594 1/4402
?/? c.200-14C>T r.(=) p.(=) g.64694170C>T Copied from the Exome Variant Server PPP2R5B_000013 1/12996 1/8594 0/4402
?/? c.200-11C>T r.(=) p.(=) g.64694173C>T Copied from the Exome Variant Server PPP2R5B_000014 1/12996 1/8594 0/4402
?/? c.206C>T r.(?) p.(Pro69Leu) g.64694190C>T Copied from the Exome Variant Server PPP2R5B_000015 1/12996 1/8594 0/4402
?/? c.222C>T r.(=) p.(=) g.64694206C>T Copied from the Exome Variant Server PPP2R5B_000016 1/12996 1/8594 0/4402
?/? c.225G>A r.(=) p.(=) g.64694209G>A Copied from the Exome Variant Server PPP2R5B_000017 4/12996 3/8594 1/4402
?/? c.236G>A r.(?) p.(Arg79Gln) g.64694220G>A Copied from the Exome Variant Server PPP2R5B_000018 2/12996 0/8594 2/4402
?/? c.285C>G r.(=) p.(=) g.64694269C>G Copied from the Exome Variant Server PPP2R5B_000019 3/12996 0/8594 3/4402
?/? c.342del r.(?) p.(Ser116Alafs*17) g.64694326del Copied from the Exome Variant Server PPP2R5B_000020 1/12518 1/8254 0/4264
?/? c.396+32G>A r.(=) p.(=) g.64694412G>A Copied from the Exome Variant Server PPP2R5B_000021 2/12986 2/8588 0/4398
?/? c.397-37del r.(=) p.(=) g.64695237del Copied from the Exome Variant Server PPP2R5B_000022 4/12518 3/8254 1/4264
?/? c.426G>A r.(=) p.(=) g.64695303G>A Copied from the Exome Variant Server PPP2R5B_000023 3/12996 0/8594 3/4402
?/? c.483G>A r.(=) p.(=) g.64695360G>A Copied from the Exome Variant Server PPP2R5B_000024 10/12996 7/8594 3/4402
?/? c.498+8del r.(=) p.(=) g.64695383del Copied from the Exome Variant Server PPP2R5B_000025 3/12518 0/8254 3/4264
?/? c.498+21C>A r.(=) p.(=) g.64695396C>A Copied from the Exome Variant Server PPP2R5B_000026 7/12996 0/8594 7/4402
?/? c.498+40A>G r.(=) p.(=) g.64695415A>G Copied from the Exome Variant Server PPP2R5B_000027 1/12996 1/8594 0/4402
?/? c.498+48A>G r.(=) p.(=) g.64695423A>G Copied from the Exome Variant Server PPP2R5B_000028 2/12996 0/8594 2/4402
?/? c.499-26C>T r.(=) p.(=) g.64695512C>T Copied from the Exome Variant Server PPP2R5B_000029 2/12996 0/8594 2/4402
?/? c.499-19del r.(=) p.(=) g.64695519del Copied from the Exome Variant Server PPP2R5B_000030 1/12518 1/8254 0/4264
?/? c.520C>T r.(?) p.(Arg174Cys) g.64695559C>T Copied from the Exome Variant Server PPP2R5B_000031 1/12996 0/8594 1/4402
?/? c.591+48C>T r.(=) p.(=) g.64695678C>T Copied from the Exome Variant Server PPP2R5B_000032 2/12996 0/8594 2/4402
?/? c.592-36del r.(=) p.(=) g.64695731del Copied from the Exome Variant Server PPP2R5B_000033 657/12518 4/8254 653/4264
?/? c.592-20_592-19insCTGACT r.(=) p.(=) g.64695747_64695748insCTGACT Copied from the Exome Variant Server PPP2R5B_000034 2/12518 2/8254 0/4264
?/? c.723-60C>G r.(=) p.(=) g.64697734C>G Copied from the Exome Variant Server PPP2R5B_000035 1/4566 1/3182 0/1384
?/? c.723-16C>T r.(=) p.(=) g.64697778C>T Copied from the Exome Variant Server PPP2R5B_000036 64/12996 1/8594 63/4402
?/? c.723-4G>C r.spl? p.? g.64697790G>C Copied from the Exome Variant Server PPP2R5B_000037 1/12996 1/8594 0/4402
?/? c.749A>G r.(?) p.(Asn250Ser) g.64697820A>G Copied from the Exome Variant Server PPP2R5B_000038 1/12996 0/8594 1/4402
?/? c.782+11C>T r.(=) p.(=) g.64697864C>T Copied from the Exome Variant Server PPP2R5B_000039 4/12996 4/8594 0/4402
?/? c.782+48G>T r.(=) p.(=) g.64697901G>T Copied from the Exome Variant Server PPP2R5B_000040 1/12996 1/8594 0/4402
?/? c.783-24T>C r.(=) p.(=) g.64697929T>C Copied from the Exome Variant Server PPP2R5B_000041 2/12996 2/8594 0/4402
?/? c.783-3C>T r.spl? p.? g.64697950C>T Copied from the Exome Variant Server PPP2R5B_000042 618/12996 461/8594 157/4402
?/? c.783C>T r.(=) p.(=) g.64697953C>T Copied from the Exome Variant Server PPP2R5B_000043 1/12996 1/8594 0/4402
?/? c.815C>T r.(?) p.(Thr272Met) g.64697985C>T Copied from the Exome Variant Server PPP2R5B_000045 3/12996 3/8594 0/4402
?/? c.838C>T r.(?) p.(Arg280Cys) g.64698008C>T Copied from the Exome Variant Server PPP2R5B_000047 1/12996 1/8594 0/4402
?/? c.841G>A r.(?) p.(Val281Ile) g.64698011G>A Copied from the Exome Variant Server PPP2R5B_000049 3/12996 1/8594 2/4402
?/? c.879C>A r.(=) p.(=) g.64698049C>A Copied from the Exome Variant Server PPP2R5B_000044 1/12996 1/8594 0/4402
?/? c.891+44G>A r.(=) p.(=) g.64698105G>A Copied from the Exome Variant Server PPP2R5B_000046 1/12996 0/8594 1/4402
?/? c.891+47del r.(=) p.(=) g.64698108del Copied from the Exome Variant Server PPP2R5B_000048 1/12516 1/8252 0/4264
?/? c.896C>T r.(?) p.(Ala299Val) g.64698912C>T Copied from the Exome Variant Server PPP2R5B_000050 1/12996 1/8594 0/4402
?/? c.945C>T r.(=) p.(=) g.64698961C>T Copied from the Exome Variant Server PPP2R5B_000051 5/12996 0/8594 5/4402
?/? c.945+9C>T r.(=) p.(=) g.64698970C>T Copied from the Exome Variant Server PPP2R5B_000052 14/12996 11/8594 3/4402
?/? c.945+19T>C r.(=) p.(=) g.64698980T>C Copied from the Exome Variant Server PPP2R5B_000053 2/12996 2/8594 0/4402
?/? c.945+27C>G r.(=) p.(=) g.64698988C>G Copied from the Exome Variant Server PPP2R5B_000054 1/12996 1/8594 0/4402
?/? c.946-33C>T r.(=) p.(=) g.64698998C>T Copied from the Exome Variant Server PPP2R5B_000055 1/12996 1/8594 0/4402
?/? c.946-26C>T r.(=) p.(=) g.64699005C>T Copied from the Exome Variant Server PPP2R5B_000056 1/12996 1/8594 0/4402
?/? c.946-13T>C r.(=) p.(=) g.64699018T>C Copied from the Exome Variant Server PPP2R5B_000057 1/12996 1/8594 0/4402
?/? c.953G>A r.(?) p.(Arg318Gln) g.64699038G>A Copied from the Exome Variant Server PPP2R5B_000058 1/12996 0/8594 1/4402
?/? c.957G>A r.(=) p.(=) g.64699042G>A Copied from the Exome Variant Server PPP2R5B_000059 43/12996 0/8594 43/4402
?/? c.996+48C>T r.(=) p.(=) g.64699129C>T Copied from the Exome Variant Server PPP2R5B_000060 1/12996 0/8594 1/4402
?/? c.996+56A>G r.(=) p.(=) g.64699137A>G Copied from the Exome Variant Server PPP2R5B_000061 2/4566 0/3182 2/1384
?/? c.997-35C>T r.(=) p.(=) g.64699186C>T Copied from the Exome Variant Server PPP2R5B_000062 1/12996 1/8594 0/4402
?/? c.997-22C>A r.(=) p.(=) g.64699199C>A Copied from the Exome Variant Server PPP2R5B_000063 1/12996 1/8594 0/4402
?/? c.997G>A r.(?) p.(Val333Met) g.64699221G>A Copied from the Exome Variant Server PPP2R5B_000064 1/12996 1/8594 0/4402
?/? c.1037T>C r.(?) p.(Ile346Thr) g.64699261T>C Copied from the Exome Variant Server PPP2R5B_000065 1/12996 1/8594 0/4402
?/? c.1074T>A r.(=) p.(=) g.64699298T>A Copied from the Exome Variant Server PPP2R5B_000066 9/12996 8/8594 1/4402
?/? c.1090C>T r.(?) p.(Arg364Cys) g.64699314C>T Copied from the Exome Variant Server PPP2R5B_000067 5/12996 5/8594 0/4402
?/? c.1091G>A r.(?) p.(Arg364His) g.64699315G>A Copied from the Exome Variant Server PPP2R5B_000068 1/12996 1/8594 0/4402
?/? c.1116+29G>A r.(=) p.(=) g.64699369G>A Copied from the Exome Variant Server PPP2R5B_000069 10/12996 0/8594 10/4402
?/? c.1169T>G r.(?) p.(Ile390Ser) g.64700289T>G Copied from the Exome Variant Server PPP2R5B_000070 1/12996 1/8594 0/4402
?/? c.1244+19C>T r.(=) p.(=) g.64700383C>T Copied from the Exome Variant Server PPP2R5B_000071 42/12996 35/8594 7/4402
?/? c.1244+39A>T r.(=) p.(=) g.64700403A>T Copied from the Exome Variant Server PPP2R5B_000072 2/12996 2/8594 0/4402
?/? c.1245-29T>C r.(=) p.(=) g.64700588T>C Copied from the Exome Variant Server PPP2R5B_000073 24/12996 23/8594 1/4402
?/? c.1245-28_1245-26del r.(=) p.(=) g.64700589_64700591del Copied from the Exome Variant Server PPP2R5B_000074 3/12518 3/8254 0/4264
?/? c.1245-4C>G r.spl? p.? g.64700613C>G Copied from the Exome Variant Server PPP2R5B_000075 1/12996 0/8594 1/4402
?/? c.1280C>G r.(?) p.(Thr427Ser) g.64700652C>G Copied from the Exome Variant Server PPP2R5B_000076 1/12996 1/8594 0/4402
?/? c.1287G>A r.(?) p.(Met429Ile) g.64700659G>A Copied from the Exome Variant Server PPP2R5B_000077 1/12996 1/8594 0/4402
?/? c.1346+20C>T r.(=) p.(=) g.64700738C>T Copied from the Exome Variant Server PPP2R5B_000078 1/12996 1/8594 0/4402
?/? c.1346+21G>T r.(=) p.(=) g.64700739G>T Copied from the Exome Variant Server PPP2R5B_000079 2/12996 0/8594 2/4402
?/? c.1346+44G>A r.(=) p.(=) g.64700762G>A Copied from the Exome Variant Server PPP2R5B_000080 1/12996 0/8594 1/4402
?/? c.1346+49G>A r.(=) p.(=) g.64700767G>A Copied from the Exome Variant Server PPP2R5B_000081 10100/12996 6528/8594 3572/4402
?/? c.1347-40G>A r.(=) p.(=) g.64701129G>A Copied from the Exome Variant Server PPP2R5B_000082 1/12454 1/8226 0/4228
?/? c.1353G>A r.(=) p.(=) g.64701175G>A Copied from the Exome Variant Server PPP2R5B_000083 1/12790 0/8458 1/4332
?/? c.1363C>A r.(?) p.(Gln455Lys) g.64701185C>A Copied from the Exome Variant Server PPP2R5B_000084 7/12828 7/8480 0/4348
?/? c.1408C>T r.(?) p.(Arg470Cys) g.64701230C>T Copied from the Exome Variant Server PPP2R5B_000085 2/12708 1/8426 1/4282
?/? c.1473C>T r.(=) p.(=) g.64701295C>T Copied from the Exome Variant Server PPP2R5B_000086 38/12420 36/8244 2/4176
?/? c.*42_*43del r.(=) p.(=) g.64701358_64701359del Copied from the Exome Variant Server PPP2R5B_000087 18/11264 9/7460 9/3804
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