All transcript variants in gene PIGQ

Information The variants shown are described using the NM_004204.3 transcript reference sequence.

204 entries on 3 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-9-17del r.(=) p.(=) g.624049del Copied from the Exome Variant Server PIGQ_000001 4/12514 0/8254 4/4260
?/? c.-9-14_-9-10del r.(=) p.(=) g.624052_624056del Copied from the Exome Variant Server PIGQ_000002 5/12514 3/8252 2/4262
?/? c.27G>A r.(=) p.(=) g.624101G>A Copied from the Exome Variant Server PIGQ_000003 327/13002 304/8600 23/4402
?/? c.34G>A r.(?) p.(Val12Ile) g.624108G>A Copied from the Exome Variant Server PIGQ_000004 39/13002 0/8600 39/4402
?/? c.40A>G r.(?) p.(Thr14Ala) g.624114A>G Copied from the Exome Variant Server PIGQ_000005 5614/13002 3507/8600 2107/4402
?/? c.41C>T r.(?) p.(Thr14Met) g.624115C>T Copied from the Exome Variant Server PIGQ_000006 1/13002 1/8600 0/4402
?/? c.43G>C r.(?) p.(Asp15His) g.624117G>C Copied from the Exome Variant Server PIGQ_000007 1/13002 1/8600 0/4402
?/? c.49G>A r.(?) p.(Gly17Arg) g.624123G>A Copied from the Exome Variant Server PIGQ_000008 1/13002 1/8600 0/4402
?/? c.65G>A r.(?) p.(Arg22Gln) g.624139G>A Copied from the Exome Variant Server PIGQ_000009 1/13000 0/8598 1/4402
?/? c.75G>A r.(=) p.(=) g.624149G>A Copied from the Exome Variant Server PIGQ_000010 82/13000 0/8598 82/4402
?/? c.91G>A r.(?) p.(Val31Met) g.624165G>A Copied from the Exome Variant Server PIGQ_000011 1/12996 1/8596 0/4400
?/? c.123C>A r.(=) p.(=) g.624197C>A Copied from the Exome Variant Server PIGQ_000012 1/12992 1/8596 0/4396
?/? c.158G>A r.(?) p.(Arg53Gln) g.624232G>A Copied from the Exome Variant Server PIGQ_000013 1/12986 0/8596 1/4390
?/? c.168C>T r.(=) p.(=) g.624242C>T Copied from the Exome Variant Server PIGQ_000014 1/12978 0/8588 1/4390
?/? c.219C>T r.(=) p.(=) g.624293C>T Copied from the Exome Variant Server PIGQ_000015 1/12976 0/8588 1/4388
?/? c.231G>A r.(=) p.(=) g.624305G>A Copied from the Exome Variant Server PIGQ_000016 1/12988 1/8592 0/4396
?/? c.283C>T r.(?) p.(Arg95Trp) g.624357C>T Copied from the Exome Variant Server PIGQ_000017 1/12982 1/8588 0/4394
?/? c.284G>A r.(?) p.(Arg95Gln) g.624358G>A Copied from the Exome Variant Server PIGQ_000018 1/12982 0/8590 1/4392
?/? c.290G>T r.(?) p.(Cys97Phe) g.624364G>T Copied from the Exome Variant Server PIGQ_000019 2/12974 2/8582 0/4392
?/? c.295G>A r.(?) p.(Glu99Lys) g.624369G>A Copied from the Exome Variant Server PIGQ_000020 1/12984 1/8588 0/4396
?/? c.309G>A r.(=) p.(=) g.624383G>A Copied from the Exome Variant Server PIGQ_000021 2/12974 0/8590 2/4384
?/? c.335G>A r.(?) p.(Arg112Gln) g.624409G>A Copied from the Exome Variant Server PIGQ_000022 2/12974 1/8588 1/4386
?/? c.350C>T r.(?) p.(Ala117Val) g.624424C>T Copied from the Exome Variant Server PIGQ_000023 68/12974 62/8590 6/4384
?/? c.355G>A r.(?) p.(Gly119Ser) g.624429G>A Copied from the Exome Variant Server PIGQ_000024 1/12972 1/8584 0/4388
?/? c.400C>T r.(?) p.(Arg134Cys) g.624474C>T Copied from the Exome Variant Server PIGQ_000025 4/12976 3/8588 1/4388
?/? c.412C>T r.(=) p.(=) g.624486C>T Copied from the Exome Variant Server PIGQ_000026 2/12984 0/8586 2/4398
?/? c.429G>A r.(=) p.(=) g.624503G>A Copied from the Exome Variant Server PIGQ_000027 2/12968 2/8584 0/4384
?/? c.476C>T r.(?) p.(Thr159Met) g.624550C>T Copied from the Exome Variant Server PIGQ_000028 1/12834 0/8516 1/4318
?/? c.492C>T r.(=) p.(=) g.624566C>T Copied from the Exome Variant Server PIGQ_000029 1/12948 0/8570 1/4378
?/? c.499G>A r.(?) p.(Asp167Asn) g.624573G>A Copied from the Exome Variant Server PIGQ_000030 3/12950 0/8578 3/4372
?/? c.502A>T r.(?) p.(Thr168Ser) g.624576A>T Copied from the Exome Variant Server PIGQ_000031 1/12956 1/8580 0/4376
?/? c.539G>A r.(?) p.(Arg180His) g.624613G>A Copied from the Exome Variant Server PIGQ_000032 1/12936 0/8558 1/4378
?/? c.556G>T r.(?) p.(Val186Leu) g.624630G>T Copied from the Exome Variant Server PIGQ_000033 1/12804 0/8472 1/4332
?/? c.579G>A r.(=) p.(=) g.624653G>A Copied from the Exome Variant Server PIGQ_000034 3/12692 0/8420 3/4272
?/? c.603C>T r.(=) p.(=) g.624677C>T Copied from the Exome Variant Server PIGQ_000035 1/12838 0/8494 1/4344
?/? c.605C>A r.(?) p.(Ala202Glu) g.624679C>A Copied from the Exome Variant Server PIGQ_000036 1/12852 1/8506 0/4346
?/? c.616A>C r.(=) p.(=) g.624690A>C Copied from the Exome Variant Server PIGQ_000037 4/12894 0/8530 4/4364
?/? c.627G>A r.(=) p.(=) g.624701G>A Copied from the Exome Variant Server PIGQ_000038 1/12934 0/8558 1/4376
?/? c.639C>T r.(=) p.(=) g.624713C>T Copied from the Exome Variant Server PIGQ_000039 5583/12960 3466/8582 2117/4378
?/? c.676G>A r.(?) p.(Val226Ile) g.624750G>A Copied from the Exome Variant Server PIGQ_000040 1/12900 1/8540 0/4360
?/? c.689+22G>A r.(=) p.(=) g.624785G>A Copied from the Exome Variant Server PIGQ_000041 3/12846 0/8494 3/4352
?/? c.689+33G>A r.(=) p.(=) g.624796G>A Copied from the Exome Variant Server PIGQ_000042 100/12848 91/8494 9/4354
?/? c.689+34T>C r.(=) p.(=) g.624797T>C Copied from the Exome Variant Server PIGQ_000043 1/12844 1/8490 0/4354
?/? c.690-31G>A r.(=) p.(=) g.625808G>A Copied from the Exome Variant Server PIGQ_000044 171/12816 1/8494 170/4322
?/? c.690-3C>T r.spl? p.? g.625836C>T Copied from the Exome Variant Server PIGQ_000045 2/12922 1/8552 1/4370
?/? c.707C>T r.(?) p.(Pro236Leu) g.625856C>T Copied from the Exome Variant Server PIGQ_000046 1/12946 0/8574 1/4372
?/? c.730_731del r.(?) p.(Ser245Hisfs*69) g.625879_625880del Copied from the Exome Variant Server PIGQ_000047 33/12472 22/8230 11/4242
?/? c.750C>G r.(=) p.(=) g.625899C>G Copied from the Exome Variant Server PIGQ_000048 1/12968 1/8584 0/4384
?/? c.751C>T r.(?) p.(Arg251Trp) g.625900C>T Copied from the Exome Variant Server PIGQ_000049 1/12966 0/8584 1/4382
?/? c.752G>A r.(?) p.(Arg251Gln) g.625901G>A Copied from the Exome Variant Server PIGQ_000050 20/12968 1/8584 19/4384
?/? c.757C>T r.(?) p.(Arg253Trp) g.625906C>T Copied from the Exome Variant Server PIGQ_000051 1/12970 1/8584 0/4386
?/? c.791G>A r.(?) p.(Arg264Gln) g.625940G>A Copied from the Exome Variant Server PIGQ_000052 1/12972 0/8588 1/4384
?/? c.794A>G r.(?) p.(Lys265Arg) g.625943A>G Copied from the Exome Variant Server PIGQ_000053 1/12970 0/8588 1/4382
?/? c.798G>A r.(=) p.(=) g.625947G>A Copied from the Exome Variant Server PIGQ_000054 3/12968 3/8590 0/4378
?/? c.810C>T r.(=) p.(=) g.625959C>T Copied from the Exome Variant Server PIGQ_000055 71/12970 66/8594 5/4376
?/? c.821+3G>A r.spl? p.? g.625973G>A Copied from the Exome Variant Server PIGQ_000056 2/12960 2/8586 0/4374
?/? c.821+7G>T r.(=) p.(=) g.625977G>T Copied from the Exome Variant Server PIGQ_000057 1/12964 0/8584 1/4380
?/? c.821+35G>A r.(=) p.(=) g.626005G>A Copied from the Exome Variant Server PIGQ_000058 1/12940 0/8568 1/4372
?/? c.822-34C>T r.(=) p.(=) g.626100C>T Copied from the Exome Variant Server PIGQ_000059 1/12056 0/8016 1/4040
?/? c.822-21C>T r.(=) p.(=) g.626113C>T Copied from the Exome Variant Server PIGQ_000060 1/11980 1/7944 0/4036
?/? c.833C>T r.(?) p.(Thr278Met) g.626145C>T Copied from the Exome Variant Server PIGQ_000061 2/12192 0/8080 2/4112
?/? c.849G>T r.(=) p.(=) g.626161G>T Copied from the Exome Variant Server PIGQ_000062 1/12312 0/8178 1/4134
?/? c.874C>G r.(?) p.(Leu292Val) g.626186C>G Copied from the Exome Variant Server PIGQ_000064 1/12462 1/8270 0/4192
?/? c.878T>C r.(?) p.(Leu293Pro) g.626190T>C Copied from the Exome Variant Server PIGQ_000065 1/12498 0/8300 1/4198
?/? c.902G>A r.(?) p.(Arg301His) g.626214G>A Copied from the Exome Variant Server PIGQ_000066 1/12616 1/8376 0/4240
?/? c.906C>T r.(=) p.(=) g.626218C>T Copied from the Exome Variant Server PIGQ_000069 2/12658 1/8404 1/4254
?/? c.915G>C r.(=) p.(=) g.626227G>C Copied from the Exome Variant Server PIGQ_000071 421/12694 11/8432 410/4262
?/? c.918C>T r.(=) p.(=) g.626230C>T Copied from the Exome Variant Server PIGQ_000072 12/12710 10/8430 2/4280
?/? c.919G>A r.(?) p.(Asp307Asn) g.626231G>A Copied from the Exome Variant Server PIGQ_000075 1/12710 1/8430 0/4280
?/? c.925C>G r.(?) p.(Leu309Val) g.626237C>G Copied from the Exome Variant Server PIGQ_000076 15/12742 12/8456 3/4286
?/? c.928G>A r.(?) p.(Val310Ile) g.626240G>A Copied from the Exome Variant Server PIGQ_000078 2/12762 2/8470 0/4292
?/? c.942+31C>T r.(=) p.(=) g.626285C>T Copied from the Exome Variant Server PIGQ_000081 1/12624 1/8358 0/4266
?/? c.943-47C>T r.(=) p.(=) g.628332C>T Copied from the Exome Variant Server PIGQ_000082 3/12942 3/8574 0/4368
?/? c.943-45G>A r.(=) p.(=) g.628334G>A Copied from the Exome Variant Server PIGQ_000084 1/12950 1/8576 0/4374
?/? c.943-25C>G r.(=) p.(=) g.628354C>G Copied from the Exome Variant Server PIGQ_000063 40/12958 2/8576 38/4382
?/? c.943-10G>A r.(=) p.(=) g.628369G>A Copied from the Exome Variant Server PIGQ_000201 2/12986 2/8590 0/4396
?/? c.943-5T>C r.spl? p.? g.628374T>C Copied from the Exome Variant Server PIGQ_000067 1/12988 1/8590 0/4398
?/? c.943-3C>T r.spl? p.? g.628376C>T Copied from the Exome Variant Server PIGQ_000068 1/12988 1/8592 0/4396
?/? c.945C>T r.(=) p.(=) g.628381C>T Copied from the Exome Variant Server PIGQ_000070 1/12992 0/8592 1/4400
?/? c.993C>T r.(=) p.(=) g.628429C>T Copied from the Exome Variant Server PIGQ_000073 3/12992 3/8596 0/4396
?/? c.996C>T r.(=) p.(=) g.628432C>T Copied from the Exome Variant Server PIGQ_000074 14/12992 10/8596 4/4396
?/? c.1037G>A r.(?) p.(Arg346His) g.628473G>A Copied from the Exome Variant Server PIGQ_000077 1/12998 0/8598 1/4400
?/? c.1069+15G>A r.(=) p.(=) g.628520G>A Copied from the Exome Variant Server PIGQ_000079 4/12998 0/8598 4/4400
?/? c.1069+32C>T r.(=) p.(=) g.628537C>T Copied from the Exome Variant Server PIGQ_000080 1/12998 1/8600 0/4398
?/? c.1070-30G>A r.(=) p.(=) g.628755G>A Copied from the Exome Variant Server PIGQ_000083 1/13002 0/8600 1/4402
?/? c.1084A>G r.(?) p.(Met362Val) g.628799A>G Copied from the Exome Variant Server PIGQ_000085 1/13002 1/8600 0/4402
?/? c.1116C>T r.(=) p.(=) g.628831C>T Copied from the Exome Variant Server PIGQ_000086 1/13002 1/8600 0/4402
?/? c.1117G>A r.(?) p.(Val373Met) g.628832G>A Copied from the Exome Variant Server PIGQ_000087 3/13002 3/8600 0/4402
?/? c.1135C>T r.(=) p.(=) g.628850C>T Copied from the Exome Variant Server PIGQ_000088 1/13002 1/8600 0/4402
?/? c.1181T>G r.(?) p.(Leu394Arg) g.628896T>G Copied from the Exome Variant Server PIGQ_000089 2/13002 0/8600 2/4402
?/? c.1191C>T r.(=) p.(=) g.628906C>T Copied from the Exome Variant Server PIGQ_000090 2/13002 0/8600 2/4402
?/? c.1197_1199del r.(?) p.(Tyr400del) g.628912_628914del Copied from the Exome Variant Server PIGQ_000091 6/12518 6/8254 0/4264
?/? c.1209C>T r.(=) p.(=) g.628924C>T Copied from the Exome Variant Server PIGQ_000092 7/13002 4/8600 3/4402
?/? c.1223+7G>A r.(=) p.(=) g.628945G>A Copied from the Exome Variant Server PIGQ_000093 2/13002 0/8600 2/4402
?/? c.1223+40G>A r.(=) p.(=) g.628978G>A Copied from the Exome Variant Server PIGQ_000094 1/12976 1/8590 0/4386
?/? c.1224-38C>T r.(=) p.(=) g.629031C>T Copied from the Exome Variant Server PIGQ_000095 3/12822 3/8516 0/4306
?/? c.1224-34G>A r.(=) p.(=) g.629035G>A Copied from the Exome Variant Server PIGQ_000096 2/12956 1/8582 1/4374
?/? c.1224-31_1224-27del r.(=) p.(=) g.629038_629042del Copied from the Exome Variant Server PIGQ_000097 2886/12490 1755/8240 1131/4250
?/? c.1253C>G r.(?) p.(Ser418Cys) g.629098C>G Copied from the Exome Variant Server PIGQ_000098 12/13000 0/8600 12/4400
?/? c.1274G>T r.(?) p.(Arg425Leu) g.629119G>T Copied from the Exome Variant Server PIGQ_000099 1/13002 1/8600 0/4402
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