All transcript variants in gene PDE7A

Information The variants shown are described using the NM_001242318.2 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-44_-23del r.(=) p.(=) g.66753766_66753787del Copied from the Exome Variant Server PDE7A_000093 6/10240 6/7132 0/3108
?/? c.15C>T r.(=) p.(=) g.66753729G>A Copied from the Exome Variant Server PDE7A_000092 1/12122 0/8268 1/3854
?/? c.53A>G r.(?) p.(Gln18Arg) g.66753691T>C Copied from the Exome Variant Server PDE7A_000091 1/12210 1/8300 0/3910
?/? c.116C>T r.(?) p.(Pro39Leu) g.66753628G>A Copied from the Exome Variant Server PDE7A_000090 1/12088 1/8256 0/3832
?/? c.138+13G>T r.(=) p.(=) g.66753593C>A Copied from the Exome Variant Server PDE7A_000089 1/11938 0/8194 1/3744
?/? c.139-6116G>A r.(=) p.(=) g.66701194C>T Copied from the Exome Variant Server PDE7A_000088 3/13006 0/8600 3/4406
?/? c.139-6098A>G r.(=) p.(=) g.66701176T>C Copied from the Exome Variant Server PDE7A_000087 1/13006 1/8600 0/4406
?/? c.139-6069C>T r.(=) p.(=) g.66701147G>A Copied from the Exome Variant Server PDE7A_000086 80/13006 37/8600 43/4406
?/? c.139-6032C>G r.(=) p.(=) g.66701110G>C Copied from the Exome Variant Server PDE7A_000085 1/13006 0/8600 1/4406
?/? c.139-6013G>A r.(=) p.(=) g.66701091C>T Copied from the Exome Variant Server PDE7A_000084 2/13006 0/8600 2/4406
?/? c.139-65T>G r.(=) p.(=) g.66695143A>C Copied from the Exome Variant Server PDE7A_000083 109/4538 1/3156 108/1382
?/? c.139-5_139-4insT r.spl? p.? g.66695082_66695083insA Copied from the Exome Variant Server PDE7A_000082 186/12492 137/8234 49/4258
?/? c.176C>G r.(?) p.(Thr59Ser) g.66695041G>C Copied from the Exome Variant Server PDE7A_000081 3/13000 3/8594 0/4406
?/? c.199+18T>C r.(=) p.(=) g.66695000A>G Copied from the Exome Variant Server PDE7A_000080 2/12970 2/8570 0/4400
?/? c.199+25A>G r.(=) p.(=) g.66694993T>C Copied from the Exome Variant Server PDE7A_000079 4/12964 0/8568 4/4396
?/? c.200-47C>T r.(=) p.(=) g.66692085G>A Copied from the Exome Variant Server PDE7A_000078 1/13006 1/8600 0/4406
?/? c.200-38A>G r.(=) p.(=) g.66692076T>C Copied from the Exome Variant Server PDE7A_000077 4/13006 4/8600 0/4406
?/? c.227G>A r.(?) p.(Gly76Glu) g.66692011C>T Copied from the Exome Variant Server PDE7A_000076 601/13006 533/8600 68/4406
?/? c.283+21A>T r.(=) p.(=) g.66691934T>A Copied from the Exome Variant Server PDE7A_000075 6757/13006 3424/8600 3333/4406
?/? c.365G>A r.(?) p.(Arg122His) g.66659957C>T Copied from the Exome Variant Server PDE7A_000074 1/13004 0/8600 1/4404
?/? c.374G>T r.(?) p.(Arg125Leu) g.66659948C>A Copied from the Exome Variant Server PDE7A_000073 1/13004 1/8600 0/4404
?/? c.383C>T r.(?) p.(Ala128Val) g.66659939G>A Copied from the Exome Variant Server PDE7A_000072 2/13004 2/8600 0/4404
?/? c.397C>G r.(?) p.(Leu133Val) g.66659925G>C Copied from the Exome Variant Server PDE7A_000071 1/13006 0/8600 1/4406
?/? c.436-60C>A r.(=) p.(=) g.66657765G>T Copied from the Exome Variant Server PDE7A_000070 81/4554 53/3170 28/1384
?/? c.436-46G>A r.(=) p.(=) g.66657751C>T Copied from the Exome Variant Server PDE7A_000069 1/12966 0/8582 1/4384
?/? c.482T>G r.(?) p.(Phe161Cys) g.66657659A>C Copied from the Exome Variant Server PDE7A_000068 1/12990 1/8592 0/4398
?/? c.499+32T>C r.(=) p.(=) g.66657610A>G Copied from the Exome Variant Server PDE7A_000067 1/12990 1/8596 0/4394
?/? c.499+42A>G r.(=) p.(=) g.66657600T>C Copied from the Exome Variant Server PDE7A_000066 4/12984 0/8596 4/4388
?/? c.500-26A>G r.(=) p.(=) g.66651858T>C Copied from the Exome Variant Server PDE7A_000065 1/12854 0/8518 1/4336
?/? c.523T>A r.(?) p.(Phe175Ile) g.66651809A>T Copied from the Exome Variant Server PDE7A_000064 1/12944 1/8576 0/4368
?/? c.572T>C r.(?) p.(Met191Thr) g.66651760A>G Copied from the Exome Variant Server PDE7A_000063 1/12978 0/8588 1/4390
?/? c.583C>T r.(?) p.(Arg195Cys) g.66651749G>A Copied from the Exome Variant Server PDE7A_000062 1/12972 0/8584 1/4388
?/? c.594A>G r.(=) p.(=) g.66651738T>C Copied from the Exome Variant Server PDE7A_000061 3/12974 0/8584 3/4390
?/? c.595+15C>T r.(=) p.(=) g.66651722G>A Copied from the Exome Variant Server PDE7A_000060 1/12966 1/8580 0/4386
?/? c.595+24A>G r.(=) p.(=) g.66651713T>C Copied from the Exome Variant Server PDE7A_000059 1/12962 1/8574 0/4388
?/? c.595+32G>C r.(=) p.(=) g.66651705C>G Copied from the Exome Variant Server PDE7A_000058 252/12940 233/8564 19/4376
?/? c.595+48A>T r.(=) p.(=) g.66651689T>A Copied from the Exome Variant Server PDE7A_000057 1/12908 1/8540 0/4368
?/? c.596-39T>G r.(=) p.(=) g.66647168A>C Copied from the Exome Variant Server PDE7A_000056 3/13006 3/8600 0/4406
?/? c.596-22G>A r.(=) p.(=) g.66647151C>T Copied from the Exome Variant Server PDE7A_000055 1/13006 1/8600 0/4406
?/? c.648C>T r.(=) p.(=) g.66647077G>A Copied from the Exome Variant Server PDE7A_000054 3/13006 3/8600 0/4406
?/? c.651T>G r.(=) p.(=) g.66647074A>C Copied from the Exome Variant Server PDE7A_000053 4/13006 3/8600 1/4406
?/? c.658G>A r.(?) p.(Val220Ile) g.66647067C>T Copied from the Exome Variant Server PDE7A_000052 1/13006 0/8600 1/4406
?/? c.696+10T>C r.(=) p.(=) g.66647019A>G Copied from the Exome Variant Server PDE7A_000050 3/13006 2/8600 1/4406
?/? c.696+14A>G r.(=) p.(=) g.66647015T>C Copied from the Exome Variant Server PDE7A_000048 255/13006 149/8600 106/4406
?/? c.696+22C>T r.(=) p.(=) g.66647007G>A Copied from the Exome Variant Server PDE7A_000046 4/13006 0/8600 4/4406
?/? c.696+31_696+32insA r.(=) p.(=) g.66646997_66646998insT Copied from the Exome Variant Server PDE7A_000051 530/12518 485/8254 45/4264
?/? c.697-31T>C r.(=) p.(=) g.66639567A>G Copied from the Exome Variant Server PDE7A_000049 1/13006 1/8600 0/4406
?/? c.697-13del r.(=) p.(=) g.66639549del Copied from the Exome Variant Server PDE7A_000047 1/12518 0/8254 1/4264
?/? c.807T>C r.(=) p.(=) g.66639426A>G Copied from the Exome Variant Server PDE7A_000045 1/13006 1/8600 0/4406
?/? c.827del r.(?) p.(Lys276Argfs*18) g.66639406del Copied from the Exome Variant Server PDE7A_000044 55/12518 36/8254 19/4264
?/? c.829-38C>T r.(=) p.(=) g.66639239G>A Copied from the Exome Variant Server PDE7A_000043 3/13004 0/8598 3/4406
?/? c.829-37G>A r.(=) p.(=) g.66639238C>T Copied from the Exome Variant Server PDE7A_000042 1/13004 1/8598 0/4406
?/? c.829-29A>G r.(=) p.(=) g.66639230T>C Copied from the Exome Variant Server PDE7A_000041 114/13004 106/8598 8/4406
?/? c.921-50A>G r.(=) p.(=) g.66637206T>C Copied from the Exome Variant Server PDE7A_000040 1/12988 0/8594 1/4394
?/? c.974G>A r.(?) p.(Arg325His) g.66637103C>T Copied from the Exome Variant Server PDE7A_000039 1/13006 1/8600 0/4406
?/? c.1066-44A>G r.(=) p.(=) g.66636630T>C Copied from the Exome Variant Server PDE7A_000038 101/13002 0/8600 101/4402
?/? c.1066-37A>G r.(=) p.(=) g.66636623T>C Copied from the Exome Variant Server PDE7A_000037 2/13006 0/8600 2/4406
?/? c.1066-15T>A r.(=) p.(=) g.66636601A>T Copied from the Exome Variant Server PDE7A_000036 1/13006 1/8600 0/4406
?/? c.1066-8_1066-5del r.spl? p.? g.66636591_66636594del Copied from the Exome Variant Server PDE7A_000035 1/12518 0/8254 1/4264
?/? c.1106C>T r.(?) p.(Thr369Met) g.66636546G>A Copied from the Exome Variant Server PDE7A_000034 1/13006 1/8600 0/4406
?/? c.1107G>A r.(=) p.(=) g.66636545C>T Copied from the Exome Variant Server PDE7A_000033 1/13006 0/8600 1/4406
?/? c.1137A>G r.(=) p.(=) g.66636515T>C Copied from the Exome Variant Server PDE7A_000032 1/13006 1/8600 0/4406
?/? c.1143G>A r.(=) p.(=) g.66636509C>T Copied from the Exome Variant Server PDE7A_000031 1/13006 0/8600 1/4406
?/? c.1162+13A>G r.(=) p.(=) g.66636477T>C Copied from the Exome Variant Server PDE7A_000030 1/13006 1/8600 0/4406
?/? c.1162+22T>C r.(=) p.(=) g.66636468A>G Copied from the Exome Variant Server PDE7A_000029 1/13006 0/8600 1/4406
?/? c.1162+40C>A r.(=) p.(=) g.66636450G>T Copied from the Exome Variant Server PDE7A_000028 2/13006 0/8600 2/4406
?/? c.1162+50del r.(=) p.(=) g.66636440del Copied from the Exome Variant Server PDE7A_000027 30/12518 21/8254 9/4264
?/? c.1162+50dup r.(=) p.(=) g.66636440dup Copied from the Exome Variant Server PDE7A_000026 8/12518 3/8254 5/4264
?/? c.1169T>C r.(?) p.(Ile390Thr) g.66635850A>G Copied from the Exome Variant Server PDE7A_000025 1/13000 1/8596 0/4404
?/? c.1179del r.(?) p.(Lys393Asnfs*6) g.66635840del Copied from the Exome Variant Server PDE7A_000024 10/12510 4/8248 6/4262
?/? c.1199C>T r.(?) p.(Pro400Leu) g.66635820G>A Copied from the Exome Variant Server PDE7A_000023 4/13000 4/8594 0/4406
?/? c.1210C>T r.(?) p.(Arg404Cys) g.66635809G>A Copied from the Exome Variant Server PDE7A_000022 3/13002 2/8596 1/4406
?/? c.1213C>T r.(?) p.(His405Tyr) g.66635806G>A Copied from the Exome Variant Server PDE7A_000021 1/13000 1/8594 0/4406
?/? c.1218T>C r.(=) p.(=) g.66635801A>G Copied from the Exome Variant Server PDE7A_000020 1/13002 1/8596 0/4406
?/? c.1243+8T>C r.(=) p.(=) g.66635768A>G Copied from the Exome Variant Server PDE7A_000019 1/13002 0/8596 1/4406
?/? c.1243+9A>G r.(=) p.(=) g.66635767T>C Copied from the Exome Variant Server PDE7A_000018 1/13002 0/8596 1/4406
?/? c.1243+11A>G r.(=) p.(=) g.66635765T>C Copied from the Exome Variant Server PDE7A_000017 1/13002 1/8596 0/4406
?/? c.1243+42A>G r.(=) p.(=) g.66635734T>C Copied from the Exome Variant Server PDE7A_000016 1/13002 1/8596 0/4406
?/? c.1243+80A>C r.(=) p.(=) g.66635696T>G Copied from the Exome Variant Server PDE7A_000015 12/12492 12/8400 0/4092
?/? c.1243+83T>C r.(=) p.(=) g.66635693A>G Copied from the Exome Variant Server PDE7A_000014 92/12372 88/8336 4/4036
?/? c.1244-47A>G r.(=) p.(=) g.66631777T>C Copied from the Exome Variant Server PDE7A_000013 1/13002 0/8600 1/4402
?/? c.1244-47_1244-46insA r.(=) p.(=) g.66631776_66631777insT Copied from the Exome Variant Server PDE7A_000012 1/12512 0/8254 1/4258
?/? c.1244-46G>A r.(=) p.(=) g.66631776C>T Copied from the Exome Variant Server PDE7A_000011 1/13002 1/8600 0/4402
?/? c.1329C>T r.(=) p.(=) g.66631645G>A Copied from the Exome Variant Server PDE7A_000010 1/13006 0/8600 1/4406
?/? c.1330G>A r.(?) p.(Val444Met) g.66631644C>T Copied from the Exome Variant Server PDE7A_000009 1/13006 0/8600 1/4406
?/? c.1367G>A r.(?) p.(Arg456Lys) g.66631607C>T Copied from the Exome Variant Server PDE7A_000008 499/13006 13/8600 486/4406
?/? c.1369G>C r.(?) p.(Glu457Gln) g.66631605C>G Copied from the Exome Variant Server PDE7A_000007 1/13006 1/8600 0/4406
?/? c.1372C>G r.(?) p.(Gln458Glu) g.66631602G>C Copied from the Exome Variant Server PDE7A_000006 1/13006 1/8600 0/4406
?/? c.1376C>T r.(?) p.(Ser459Leu) g.66631598G>A Copied from the Exome Variant Server PDE7A_000005 3/13006 1/8600 2/4406
?/? c.1377G>A r.(=) p.(=) g.66631597C>T Copied from the Exome Variant Server PDE7A_000004 2/13006 1/8600 1/4406
?/? c.*1C>T r.(=) p.(=) g.66631524G>A Copied from the Exome Variant Server PDE7A_000003 6/13006 6/8600 0/4406
?/? c.*11C>G r.(=) p.(=) g.66631514G>C Copied from the Exome Variant Server PDE7A_000002 1/13006 0/8600 1/4406
?/? c.*12A>T r.(=) p.(=) g.66631513T>A Copied from the Exome Variant Server PDE7A_000001 2/13006 2/8600 0/4406
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