Unique variants in gene PSD2

Information The variants shown are described using the NM_032289.2 transcript reference sequence.

181 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-21C>T r.(=) p.(=) g.139189005C>T Copied from the Exome Variant Server PSD2_000001 4/12800 4/8472 0/4328
1 c.-16G>A r.(=) p.(=) g.139189010G>A Copied from the Exome Variant Server PSD2_000002 52/12862 10/8506 42/4356
1 c.-4T>A r.(=) p.(=) g.139189022T>A Copied from the Exome Variant Server PSD2_000003 1/12940 0/8560 1/4380
1 c.7G>T r.(?) p.(Glu3*) g.139189032G>T Copied from the Exome Variant Server PSD2_000004 3/12978 3/8588 0/4390
1 c.12C>A r.(?) p.(Asp4Glu) g.139189037C>A Copied from the Exome Variant Server PSD2_000005 5/12996 0/8596 5/4400
1 c.33T>C r.(=) p.(=) g.139189058T>C Copied from the Exome Variant Server PSD2_000006 1/13004 0/8600 1/4404
1 c.52C>T r.(?) p.(Arg18Cys) g.139189077C>T Copied from the Exome Variant Server PSD2_000007 2/13006 2/8600 0/4406
1 c.60C>T r.(=) p.(=) g.139189085C>T Copied from the Exome Variant Server PSD2_000008 25/13006 0/8600 25/4406
1 c.61G>A r.(?) p.(Gly21Ser) g.139189086G>A Copied from the Exome Variant Server PSD2_000009 19/13006 0/8600 19/4406
1 c.86G>A r.(?) p.(Gly29Glu) g.139189111G>A Copied from the Exome Variant Server PSD2_000010 171/13004 1/8598 170/4406
1 c.87G>A r.(=) p.(=) g.139189112G>A Copied from the Exome Variant Server PSD2_000011 7/13004 0/8598 7/4406
1 c.91C>T r.(?) p.(Arg31Trp) g.139189116C>T Copied from the Exome Variant Server PSD2_000012 1/13002 1/8598 0/4404
1 c.92G>A r.(?) p.(Arg31Gln) g.139189117G>A Copied from the Exome Variant Server PSD2_000013 168/13000 1/8598 167/4402
1 c.117G>C r.(=) p.(=) g.139189142G>C Copied from the Exome Variant Server PSD2_000014 1/13006 1/8600 0/4406
1 c.129C>T r.(=) p.(=) g.139189154C>T Copied from the Exome Variant Server PSD2_000015 1/13006 1/8600 0/4406
1 c.145G>A r.(?) p.(Glu49Lys) g.139189170G>A Copied from the Exome Variant Server PSD2_000016 1/13006 0/8600 1/4406
1 c.149G>A r.(?) p.(Arg50Gln) g.139189174G>A Copied from the Exome Variant Server PSD2_000017 6/13006 0/8600 6/4406
1 c.164C>T r.(?) p.(Ala55Val) g.139189189C>T Copied from the Exome Variant Server PSD2_000018 1/13006 0/8600 1/4406
1 c.183G>A r.(=) p.(=) g.139189208G>A Copied from the Exome Variant Server PSD2_000019 1/13006 0/8600 1/4406
1 c.204C>G r.(?) p.(Phe68Leu) g.139189229C>G Copied from the Exome Variant Server PSD2_000020 34/13006 0/8600 34/4406
1 c.236A>G r.(?) p.(Asn79Ser) g.139189261A>G Copied from the Exome Variant Server PSD2_000021 1/13006 1/8600 0/4406
1 c.250G>A r.(?) p.(Gly84Arg) g.139189275G>A Copied from the Exome Variant Server PSD2_000022 1/13006 0/8600 1/4406
1 c.281C>T r.(?) p.(Ala94Val) g.139189306C>T Copied from the Exome Variant Server PSD2_000023 1/13006 1/8600 0/4406
1 c.282G>A r.(=) p.(=) g.139189307G>A Copied from the Exome Variant Server PSD2_000024 2/13006 2/8600 0/4406
1 c.306C>T r.(=) p.(=) g.139189331C>T Copied from the Exome Variant Server PSD2_000025 1/13006 0/8600 1/4406
1 c.320G>C r.(?) p.(Gly107Ala) g.139189345G>C Copied from the Exome Variant Server PSD2_000026 28/13006 6/8600 22/4406
1 c.371+4_371+5insG r.spl? p.? g.139189400_139189401insG Copied from the Exome Variant Server PSD2_000027 3/12516 0/8254 3/4262
1 c.383C>T r.(?) p.(Pro128Leu) g.139192905C>T Copied from the Exome Variant Server PSD2_000028 1/13004 0/8598 1/4406
1 c.411C>T r.(=) p.(=) g.139192933C>T Copied from the Exome Variant Server PSD2_000029 1/13006 0/8600 1/4406
1 c.500C>T r.(?) p.(Thr167Met) g.139193022C>T Copied from the Exome Variant Server PSD2_000030 1/13006 1/8600 0/4406
1 c.513C>T r.(=) p.(=) g.139193035C>T Copied from the Exome Variant Server PSD2_000031 6/13006 0/8600 6/4406
1 c.523A>G r.(?) p.(Ser175Gly) g.139193045A>G Copied from the Exome Variant Server PSD2_000032 1/13006 1/8600 0/4406
1 c.546C>T r.(=) p.(=) g.139193068C>T Copied from the Exome Variant Server PSD2_000033 1/13004 1/8598 0/4406
1 c.559C>T r.(?) p.(Arg187Trp) g.139193081C>T Copied from the Exome Variant Server PSD2_000034 3/13002 3/8596 0/4406
1 c.565C>T r.(?) p.(Arg189Cys) g.139193087C>T Copied from the Exome Variant Server PSD2_000035 2/13002 2/8596 0/4406
1 c.572G>A r.(?) p.(Ser191Asn) g.139193094G>A Copied from the Exome Variant Server PSD2_000036 1/13004 0/8598 1/4406
1 c.595G>T r.(?) p.(Gly199Cys) g.139193117G>T Copied from the Exome Variant Server PSD2_000037 5/13002 5/8598 0/4404
1 c.599T>C r.(?) p.(Ile200Thr) g.139193121T>C Copied from the Exome Variant Server PSD2_000038 11/13002 0/8598 11/4404
1 c.600T>C r.(=) p.(=) g.139193122T>C Copied from the Exome Variant Server PSD2_000039 5/13002 5/8598 0/4404
1 c.608T>C r.(?) p.(Met203Thr) g.139193130T>C Copied from the Exome Variant Server PSD2_000040 1/13002 0/8598 1/4404
1 c.650A>G r.(?) p.(Glu217Gly) g.139193172A>G Copied from the Exome Variant Server PSD2_000041 3/12968 3/8580 0/4388
1 c.657C>A r.(=) p.(=) g.139193179C>A Copied from the Exome Variant Server PSD2_000042 1/12962 0/8580 1/4382
1 c.661C>T r.(?) p.(Pro221Ser) g.139193183C>T Copied from the Exome Variant Server PSD2_000043 11/12946 9/8572 2/4374
1 c.667C>T r.(?) p.(Arg223Trp) g.139193189C>T Copied from the Exome Variant Server PSD2_000044 1/12920 1/8568 0/4352
1 c.670C>T r.(?) p.(Arg224Cys) g.139193192C>T Copied from the Exome Variant Server PSD2_000045 4/12938 0/8572 4/4366
1 c.688C>T r.(?) p.(Arg230Cys) g.139193210C>T Copied from the Exome Variant Server PSD2_000047 2/12768 2/8478 0/4290
1 c.689G>A r.(?) p.(Arg230His) g.139193211G>A Copied from the Exome Variant Server PSD2_000049 2/12648 2/8410 0/4238
1 c.709C>T r.(?) p.(Arg237Cys) g.139193231C>T Copied from the Exome Variant Server PSD2_000052 14/12772 12/8470 2/4302
1 c.710G>A r.(?) p.(Arg237His) g.139193232G>A Copied from the Exome Variant Server PSD2_000054 1/12774 1/8468 0/4306
1 c.735T>C r.(=) p.(=) g.139193257T>C Copied from the Exome Variant Server PSD2_000056 28/12894 24/8546 4/4348
1 c.767G>T r.(?) p.(Gly256Val) g.139193289G>T Copied from the Exome Variant Server PSD2_000046 20/12848 0/8512 20/4336
1 c.769G>C r.(?) p.(Gly257Arg) g.139193291G>C Copied from the Exome Variant Server PSD2_000048 5/12854 0/8516 5/4338
1 c.775G>A r.(?) p.(Glu259Lys) g.139193297G>A Copied from the Exome Variant Server PSD2_000050 1/12826 1/8498 0/4328
1 c.809T>C r.(?) p.(Leu270Pro) g.139193331T>C Copied from the Exome Variant Server PSD2_000051 2/12690 0/8414 2/4276
1 c.810G>A r.(=) p.(=) g.139193332G>A Copied from the Exome Variant Server PSD2_000053 2/12688 1/8416 1/4272
1 c.812A>C r.(?) p.(Asn271Thr) g.139193334A>C Copied from the Exome Variant Server PSD2_000055 1/12700 1/8430 0/4270
1 c.821+3G>A r.spl? p.? g.139193346G>A Copied from the Exome Variant Server PSD2_000057 1/12524 1/8312 0/4212
1 c.821+10G>A r.(=) p.(=) g.139193353G>A Copied from the Exome Variant Server PSD2_000058 3/12456 2/8282 1/4174
1 c.821+12C>T r.(=) p.(=) g.139193355C>T Copied from the Exome Variant Server PSD2_000059 1/12400 1/8250 0/4150
1 c.821+17G>A r.(=) p.(=) g.139193360G>A Copied from the Exome Variant Server PSD2_000060 1/12342 1/8208 0/4134
1 c.821+31C>T r.(=) p.(=) g.139193374C>T Copied from the Exome Variant Server PSD2_000061 1/12132 1/8044 0/4088
1 c.821+35C>T r.(=) p.(=) g.139193378C>T Copied from the Exome Variant Server PSD2_000062 1/11958 1/7912 0/4046
1 c.822-31C>T r.(=) p.(=) g.139193724C>T Copied from the Exome Variant Server PSD2_000063 5/13006 1/8600 4/4406
1 c.822-25T>C r.(=) p.(=) g.139193730T>C Copied from the Exome Variant Server PSD2_000064 1/13006 1/8600 0/4406
1 c.880G>A r.(?) p.(Gly294Arg) g.139193813G>A Copied from the Exome Variant Server PSD2_000065 1/13006 1/8600 0/4406
1 c.889C>T r.(?) p.(Pro297Ser) g.139193822C>T Copied from the Exome Variant Server PSD2_000066 7/13006 0/8600 7/4406
1 c.903C>G r.(?) p.(Asp301Glu) g.139193836C>G Copied from the Exome Variant Server PSD2_000067 33/13006 0/8600 33/4406
1 c.905C>T r.(?) p.(Pro302Leu) g.139193838C>T Copied from the Exome Variant Server PSD2_000068 1/13006 1/8600 0/4406
1 c.907C>T r.(=) p.(=) g.139193840C>T Copied from the Exome Variant Server PSD2_000069 1/13006 0/8600 1/4406
1 c.955C>T r.(?) p.(Arg319Cys) g.139193888C>T Copied from the Exome Variant Server PSD2_000070 1/13006 1/8600 0/4406
1 c.972C>T r.(=) p.(=) g.139193905C>T Copied from the Exome Variant Server PSD2_000071 1/13006 1/8600 0/4406
1 c.973G>A r.(?) p.(Glu325Lys) g.139193906G>A Copied from the Exome Variant Server PSD2_000072 3/13006 3/8600 0/4406
1 c.985C>T r.(?) p.(Arg329Cys) g.139193918C>T Copied from the Exome Variant Server PSD2_000073 2/13006 1/8600 1/4406
1 c.1016+22C>T r.(=) p.(=) g.139193971C>T Copied from the Exome Variant Server PSD2_000074 5/12990 0/8592 5/4398
1 c.1017-45G>T r.(=) p.(=) g.139197021G>T Copied from the Exome Variant Server PSD2_000075 1/13006 0/8600 1/4406
1 c.1017-35C>G r.(=) p.(=) g.139197031C>G Copied from the Exome Variant Server PSD2_000076 1/13006 1/8600 0/4406
1 c.1017-20A>T r.(=) p.(=) g.139197046A>T Copied from the Exome Variant Server PSD2_000077 1/13006 0/8600 1/4406
1 c.1017-15A>T r.(=) p.(=) g.139197051A>T Copied from the Exome Variant Server PSD2_000078 2/13006 0/8600 2/4406
1 c.1020C>T r.(=) p.(=) g.139197069C>T Copied from the Exome Variant Server PSD2_000079 4/13006 4/8600 0/4406
1 c.1041C>T r.(=) p.(=) g.139197090C>T Copied from the Exome Variant Server PSD2_000080 4/13006 4/8600 0/4406
1 c.1063G>A r.(?) p.(Asp355Asn) g.139197112G>A Copied from the Exome Variant Server PSD2_000081 1/13006 0/8600 1/4406
1 c.1071G>A r.(=) p.(=) g.139197120G>A Copied from the Exome Variant Server PSD2_000082 8/13006 8/8600 0/4406
1 c.1087G>C r.(?) p.(Gly363Arg) g.139197136G>C Copied from the Exome Variant Server PSD2_000083 669/13006 4/8600 665/4406
1 c.1097+12T>G r.(=) p.(=) g.139197158T>G Copied from the Exome Variant Server PSD2_000084 14/13006 0/8600 14/4406
1 c.1097+21C>G r.(=) p.(=) g.139197167C>G Copied from the Exome Variant Server PSD2_000085 8/13006 8/8600 0/4406
1 c.1097+42G>C r.(=) p.(=) g.139197188G>C Copied from the Exome Variant Server PSD2_000086 1/13006 0/8600 1/4406
1 c.1097+49T>G r.(=) p.(=) g.139197195T>G Copied from the Exome Variant Server PSD2_000087 2/13006 2/8600 0/4406
1 c.1098-50C>T r.(=) p.(=) g.139201428C>T Copied from the Exome Variant Server PSD2_000088 2/13006 0/8600 2/4406
1 c.1154_1165del r.(?) p.(Leu385_Ser389delinsPro) g.139201534_139201545del Copied from the Exome Variant Server PSD2_000089 9/12518 6/8254 3/4264
1 c.1169G>A r.(?) p.(Arg390His) g.139201549G>A Copied from the Exome Variant Server PSD2_000090 1/13006 0/8600 1/4406
1 c.1210+4T>C r.spl? p.? g.139201594T>C Copied from the Exome Variant Server PSD2_000091 1/13006 1/8600 0/4406
1 c.1210+17A>G r.(=) p.(=) g.139201607A>G Copied from the Exome Variant Server PSD2_000092 4/13006 4/8600 0/4406
1 c.1210+23C>T r.(=) p.(=) g.139201613C>T Copied from the Exome Variant Server PSD2_000093 1/13006 1/8600 0/4406
1 c.1210+37C>T r.(=) p.(=) g.139201627C>T Copied from the Exome Variant Server PSD2_000094 7/13006 0/8600 7/4406
1 c.1211-62_1211-59del r.(=) p.(=) g.139202249_139202252del Copied from the Exome Variant Server PSD2_000095 1/12518 0/8254 1/4264
1 c.1211-52A>C r.(=) p.(=) g.139202259A>C Copied from the Exome Variant Server PSD2_000096 1/10300 1/7164 0/3136
1 c.1211-34C>T r.(=) p.(=) g.139202277C>T Copied from the Exome Variant Server PSD2_000097 1/13006 0/8600 1/4406
1 c.1211-13A>G r.(=) p.(=) g.139202298A>G Copied from the Exome Variant Server PSD2_000098 1/13006 1/8600 0/4406
1 c.1269C>T r.(=) p.(=) g.139202369C>T Copied from the Exome Variant Server PSD2_000099 65/13006 53/8600 12/4406
1 c.1269+1G>A r.spl? p.? g.139202370G>A Copied from the Exome Variant Server PSD2_000100 1/13006 0/8600 1/4406
Legend   « First ‹ Prev     1 2     Next › Last »