All transcript variants in gene PCDHGA4

Information The variants shown are described using the NM_018917.2 transcript reference sequence.

1794 entries on 18 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.6G>T r.(=) p.(=) g.140734773G>T Copied from the Exome Variant Server PCDHGA1_000401 1/12020 1/8246 0/3774
?/? c.35G>C r.(?) p.(Arg12Pro) g.140734802G>C Copied from the Exome Variant Server PCDHGA1_000403 11/12214 9/8310 2/3904
?/? c.40C>T r.(?) p.(Leu14Phe) g.140734807C>T Copied from the Exome Variant Server PCDHGA1_000405 1/12240 1/8320 0/3920
?/? c.44A>G r.(?) p.(Gln15Arg) g.140734811A>G Copied from the Exome Variant Server PCDHGA1_000407 13/12262 0/8334 13/3928
?/? c.62G>A r.(?) p.(Gly21Glu) g.140734829G>A Copied from the Exome Variant Server PCDHGA1_000409 1/12402 1/8386 0/4016
?/? c.64G>T r.(?) p.(Val22Phe) g.140734831G>T Copied from the Exome Variant Server PCDHGA1_000411 34/12428 1/8396 33/4032
?/? c.88C>G r.(?) p.(Gln30Glu) g.140734855C>G Copied from the Exome Variant Server PCDHGA1_000413 138/12716 1/8532 137/4184
?/? c.98A>C r.(?) p.(Tyr33Ser) g.140734865A>C Copied from the Exome Variant Server PCDHGA1_000415 1/12792 0/8544 1/4248
?/? c.137G>A r.(?) p.(Gly46Asp) g.140734904G>A Copied from the Exome Variant Server PCDHGA1_000417 1/12972 0/8592 1/4380
?/? c.178G>C r.(?) p.(Ala60Pro) g.140734945G>C Copied from the Exome Variant Server PCDHGA1_000419 2/12972 2/8596 0/4376
?/? c.193C>T r.(?) p.(Arg65Cys) g.140734960C>T Copied from the Exome Variant Server PCDHGA1_000421 2/12986 0/8600 2/4386
?/? c.226G>T r.(?) p.(Ala76Ser) g.140734993G>T Copied from the Exome Variant Server PCDHGA1_000424 1/12962 1/8594 0/4368
?/? c.252G>T r.(?) p.(Leu84Phe) g.140735019G>T Copied from the Exome Variant Server PCDHGA1_000426 1/12900 1/8582 0/4318
?/? c.287G>A r.(?) p.(Cys96Tyr) g.140735054G>A Copied from the Exome Variant Server PCDHGA1_000427 1/12786 1/8548 0/4238
?/? c.316C>T r.(=) p.(=) g.140735083C>T Copied from the Exome Variant Server PCDHGA1_000428 14/12594 13/8490 1/4104
?/? c.325C>G r.(?) p.(Leu109Val) g.140735092C>G Copied from the Exome Variant Server PCDHGA1_000429 1/12488 0/8460 1/4028
?/? c.388C>T r.(?) p.(Pro130Ser) g.140735155C>T Copied from the Exome Variant Server PCDHGA1_000430 1/12008 0/8230 1/3778
?/? c.399T>G r.(?) p.(Phe133Leu) g.140735166T>G Copied from the Exome Variant Server PCDHGA1_000431 3/11960 0/8208 3/3752
?/? c.440A>C r.(?) p.(Asn147Thr) g.140735207A>C Copied from the Exome Variant Server PCDHGA1_000432 2/11948 2/8218 0/3730
?/? c.448G>A r.(?) p.(Ala150Thr) g.140735215G>A Copied from the Exome Variant Server PCDHGA1_000433 1758/11982 741/8226 1017/3756
?/? c.454T>C r.(?) p.(Phe152Leu) g.140735221T>C Copied from the Exome Variant Server PCDHGA1_000434 36/11998 33/8232 3/3766
?/? c.569A>C r.(?) p.(Lys190Thr) g.140735336A>C Copied from the Exome Variant Server PCDHGA1_000435 133/12886 1/8572 132/4314
?/? c.615G>A r.(=) p.(=) g.140735382G>A Copied from the Exome Variant Server PCDHGA1_000436 1/12906 0/8568 1/4338
?/? c.638C>A r.(?) p.(Thr213Lys) g.140735405C>A Copied from the Exome Variant Server PCDHGA1_000437 2/12872 1/8554 1/4318
?/? c.649G>T r.(?) p.(Gly217*) g.140735416G>T Copied from the Exome Variant Server PCDHGA1_000438 1/12816 1/8524 0/4292
?/? c.670G>T r.(?) p.(Gly224Cys) g.140735437G>T Copied from the Exome Variant Server PCDHGA1_000439 1/12712 1/8480 0/4232
?/? c.732G>T r.(?) p.(Gln244His) g.140735499G>T Copied from the Exome Variant Server PCDHGA1_000440 20/12532 0/8416 20/4116
?/? c.834G>A r.(=) p.(=) g.140735601G>A Copied from the Exome Variant Server PCDHGA1_000441 1/12182 0/8286 1/3896
?/? c.983G>A r.(?) p.(Arg328Gln) g.140735750G>A Copied from the Exome Variant Server PCDHGA1_000442 2/12022 1/8244 1/3778
?/? c.1029C>T r.(=) p.(=) g.140735796C>T Copied from the Exome Variant Server PCDHGA1_000443 4/12236 0/8296 4/3940
?/? c.1034C>T r.(?) p.(Pro345Leu) g.140735801C>T Copied from the Exome Variant Server PCDHGA1_000444 1/12236 1/8304 0/3932
?/? c.1090A>G r.(?) p.(Thr364Ala) g.140735857A>G Copied from the Exome Variant Server PCDHGA1_000445 1/12152 1/8226 0/3926
?/? c.1149A>T r.(=) p.(=) g.140735916A>T Copied from the Exome Variant Server PCDHGA1_000446 1/11898 1/8080 0/3818
?/? c.1208G>A r.(?) p.(Arg403Gln) g.140735975G>A Copied from the Exome Variant Server PCDHGA1_000447 1/12134 1/8278 0/3856
?/? c.1249G>T r.(?) p.(Glu417*) g.140736016G>T Copied from the Exome Variant Server PCDHGA1_000449 1/12388 1/8366 0/4022
?/? c.1379A>G r.(?) p.(Tyr460Cys) g.140736146A>G Copied from the Exome Variant Server PCDHGA1_000451 114/12630 4/8496 110/4134
?/? c.1385C>G r.(?) p.(Pro462Arg) g.140736152C>G Copied from the Exome Variant Server PCDHGA1_000453 7/12624 7/8492 0/4132
?/? c.1420A>G r.(?) p.(Met474Val) g.140736187A>G Copied from the Exome Variant Server PCDHGA1_000455 1/12626 0/8486 1/4140
?/? c.1519A>G r.(?) p.(Ile507Val) g.140736286A>G Copied from the Exome Variant Server PCDHGA1_000457 1/12696 1/8510 0/4186
?/? c.1585C>A r.(?) p.(Gln529Lys) g.140736352C>A Copied from the Exome Variant Server PCDHGA1_000459 1/12874 1/8558 0/4316
?/? c.1601C>G r.(?) p.(Ala534Gly) g.140736368C>G Copied from the Exome Variant Server PCDHGA1_000461 2/12938 0/8590 2/4348
?/? c.1630A>G r.(?) p.(Ser544Gly) g.140736397A>G Copied from the Exome Variant Server PCDHGA1_000463 1/12976 0/8596 1/4380
?/? c.1667A>G r.(?) p.(Asn556Ser) g.140736434A>G Copied from the Exome Variant Server PCDHGA1_000465 1/13000 1/8600 0/4400
?/? c.1707T>G r.(=) p.(=) g.140736474T>G Copied from the Exome Variant Server PCDHGA1_000467 1977/12984 777/8596 1200/4388
?/? c.1710T>A r.(?) p.(Asp570Glu) g.140736477T>A Copied from the Exome Variant Server PCDHGA1_000469 2/12988 0/8600 2/4388
?/? c.1712G>C r.(?) p.(Gly571Ala) g.140736479G>C Copied from the Exome Variant Server PCDHGA1_000471 2/12990 2/8600 0/4390
?/? c.1727A>G r.(?) p.(Glu576Gly) g.140736494A>G Copied from the Exome Variant Server PCDHGA1_000473 1/12990 1/8598 0/4392
?/? c.1743C>T r.(=) p.(=) g.140736510C>T Copied from the Exome Variant Server PCDHGA1_000475 7/13000 1/8600 6/4400
?/? c.1744G>T r.(?) p.(Ala582Ser) g.140736511G>T Copied from the Exome Variant Server PCDHGA1_000477 2/12998 0/8600 2/4398
?/? c.1752C>T r.(=) p.(=) g.140736519C>T Copied from the Exome Variant Server PCDHGA1_000479 1/12998 0/8600 1/4398
?/? c.1768A>G r.(?) p.(Lys590Glu) g.140736535A>G Copied from the Exome Variant Server PCDHGA1_000448 1/13004 0/8600 1/4404
?/? c.1787G>A r.(?) p.(Arg596Lys) g.140736554G>A Copied from the Exome Variant Server PCDHGA1_000450 58/13002 52/8600 6/4402
?/? c.1795G>T r.(?) p.(Gly599Cys) g.140736562G>T Copied from the Exome Variant Server PCDHGA1_000452 1/13004 1/8600 0/4404
?/? c.1814C>A r.(?) p.(Ser605Tyr) g.140736581C>A Copied from the Exome Variant Server PCDHGA1_000454 1/13000 0/8600 1/4400
?/? c.1922G>A r.(?) p.(Arg641Lys) g.140736689G>A Copied from the Exome Variant Server PCDHGA1_000456 448/12980 406/8584 42/4396
?/? c.1959T>A r.(=) p.(=) g.140736726T>A Copied from the Exome Variant Server PCDHGA1_000458 3/12942 1/8562 2/4380
?/? c.2021A>G r.(?) p.(Asp674Gly) g.140736788A>G Copied from the Exome Variant Server PCDHGA1_000460 2/12940 1/8570 1/4370
?/? c.2047G>C r.(?) p.(Asp683His) g.140736814G>C Copied from the Exome Variant Server PCDHGA1_000462 715/12964 150/8588 565/4376
?/? c.2061G>C r.(=) p.(=) g.140736828G>C Copied from the Exome Variant Server PCDHGA1_000464 3/12992 0/8598 3/4394
?/? c.2080G>A r.(?) p.(Val694Met) g.140736847G>A Copied from the Exome Variant Server PCDHGA1_000466 1/13004 1/8600 0/4404
?/? c.2089G>C r.(?) p.(Val697Leu) g.140736856G>C Copied from the Exome Variant Server PCDHGA1_000468 1/12998 1/8600 0/4398
?/? c.2127G>A r.(=) p.(=) g.140736894G>A Copied from the Exome Variant Server PCDHGA1_000470 2/13006 2/8600 0/4406
?/? c.2129T>C r.(?) p.(Val710Ala) g.140736896T>C Copied from the Exome Variant Server PCDHGA1_000472 1/13006 0/8600 1/4406
?/? c.2133G>A r.(=) p.(=) g.140736900G>A Copied from the Exome Variant Server PCDHGA1_000474 2/13006 0/8600 2/4406
?/? c.2134C>T r.(=) p.(=) g.140736901C>T Copied from the Exome Variant Server PCDHGA1_000476 1/13006 0/8600 1/4406
?/? c.2167C>A r.(?) p.(Arg723Ser) g.140736934C>A Copied from the Exome Variant Server PCDHGA1_000478 3/13006 1/8600 2/4406
?/? c.2169C>A r.(=) p.(=) g.140736936C>A Copied from the Exome Variant Server PCDHGA1_000480 1/13006 1/8600 0/4406
?/? c.2176C>T r.(?) p.(His726Tyr) g.140736943C>T Copied from the Exome Variant Server PCDHGA1_000481 1/13006 1/8600 0/4406
?/? c.2190C>T r.(=) p.(=) g.140736957C>T Copied from the Exome Variant Server PCDHGA1_000482 1/13006 1/8600 0/4406
?/? c.2208T>C r.(=) p.(=) g.140736975T>C Copied from the Exome Variant Server PCDHGA1_000483 202/13006 4/8600 198/4406
?/? c.2213C>A r.(?) p.(Ser738*) g.140736980C>A Copied from the Exome Variant Server PCDHGA1_000484 1/13006 0/8600 1/4406
?/? c.2252A>T r.(?) p.(Gln751Leu) g.140737019A>T Copied from the Exome Variant Server PCDHGA1_000485 8/13002 7/8596 1/4406
?/? c.2258A>G r.(?) p.(Tyr753Cys) g.140737025A>G Copied from the Exome Variant Server PCDHGA1_000486 1/13006 1/8600 0/4406
?/? c.2273C>T r.(?) p.(Ser758Phe) g.140737040C>T Copied from the Exome Variant Server PCDHGA1_000487 1/13006 0/8600 1/4406
?/? c.2283G>A r.(=) p.(=) g.140737050G>A Copied from the Exome Variant Server PCDHGA1_000488 10/13006 0/8600 10/4406
?/? c.2294A>G r.(?) p.(Lys765Arg) g.140737061A>G Copied from the Exome Variant Server PCDHGA1_000489 1/13006 0/8600 1/4406
?/? c.2343C>G r.(?) p.(Ser781Arg) g.140737110C>G Copied from the Exome Variant Server PCDHGA1_000490 1/13004 0/8600 1/4404
?/? c.2346G>C r.(=) p.(=) g.140737113G>C Copied from the Exome Variant Server PCDHGA1_000491 17/12992 0/8598 17/4394
?/? c.2415T>C r.(=) p.(=) g.140737182T>C Copied from the Exome Variant Server PCDHGA1_000492 2/12670 2/8460 0/4210
?/? c.2421+24A>G r.(=) p.(=) g.140737212A>G Copied from the Exome Variant Server PCDHGA1_000493 1/12382 0/8366 1/4016
?/? c.2421+34G>A r.(=) p.(=) g.140737222G>A Copied from the Exome Variant Server PCDHGA1_000494 1/12232 1/8318 0/3914
?/? c.2421+48G>A r.(=) p.(=) g.140737236G>A Copied from the Exome Variant Server PCDHGA1_000495 13/12116 13/8278 0/3838
?/? c.2421+2487T>C r.(=) p.(=) g.140739675T>C Copied from the Exome Variant Server PCDHGA1_000496 1/12148 1/8274 0/3874
?/? c.2421+2508C>T r.(=) p.(=) g.140739696C>T Copied from the Exome Variant Server PCDHGA1_000497 2/12280 0/8318 2/3962
?/? c.2421+2549G>C r.(?) p.(Arg12Pro) g.140739737G>C Copied from the Exome Variant Server PCDHGA1_000498 252/12304 202/8328 50/3976
?/? c.2421+2578T>C r.(=) p.(=) g.140739766T>C Copied from the Exome Variant Server PCDHGA1_000500 1/12186 1/8280 0/3906
?/? c.2421+2585T>C r.(?) p.(Leu24Ser) g.140739773T>C Copied from the Exome Variant Server PCDHGA1_000502 1/12174 1/8278 0/3896
?/? c.2421+2591C>G r.(?) p.(Pro26Arg) g.140739779C>G Copied from the Exome Variant Server PCDHGA1_000504 1307/12132 742/8264 565/3868
?/? c.2421+2615G>T r.(?) p.(Arg34Leu) g.140739803G>T Copied from the Exome Variant Server PCDHGA1_000506 1/11996 1/8222 0/3774
?/? c.2421+2620T>C r.(?) p.(Ser36Pro) g.140739808T>C Copied from the Exome Variant Server PCDHGA1_000508 3/11984 0/8220 3/3764
?/? c.2421+2624T>C r.(?) p.(Ile37Thr) g.140739812T>C Copied from the Exome Variant Server PCDHGA1_000510 8/11968 7/8222 1/3746
?/? c.2421+2677G>A r.(?) p.(Gly55Arg) g.140739865G>A Copied from the Exome Variant Server PCDHGA1_000512 1/11870 1/8180 0/3690
?/? c.2421+2686G>A r.(?) p.(Val58Ile) g.140739874G>A Copied from the Exome Variant Server PCDHGA1_000514 1151/11856 1063/8172 88/3684
?/? c.2421+2702C>A r.(?) p.(Ala63Asp) g.140739890C>A Copied from the Exome Variant Server PCDHGA1_000516 1/11836 0/8156 1/3680
?/? c.2421+2710C>G r.(?) p.(Leu66Val) g.140739898C>G Copied from the Exome Variant Server PCDHGA1_000518 11/11836 10/8158 1/3678
?/? c.2421+2748C>T r.(=) p.(=) g.140739936C>T Copied from the Exome Variant Server PCDHGA1_000520 1/11888 1/8184 0/3704
?/? c.2421+2749C>A r.(?) p.(Pro79Thr) g.140739937C>A Copied from the Exome Variant Server PCDHGA1_000522 2/11892 1/8188 1/3704
?/? c.2421+2759_2421+2779del r.(?) p.(Asp83_Arg89del) g.140739947_140739967del Copied from the Exome Variant Server PCDHGA1_000524 4/11454 4/7858 0/3596
?/? c.2421+2786A>G r.(?) p.(Asp91Gly) g.140739974A>G Copied from the Exome Variant Server PCDHGA1_000526 2/11940 2/8212 0/3728
?/? c.2421+2800T>C r.(?) p.(Cys96Arg) g.140739988T>C Copied from the Exome Variant Server PCDHGA1_000528 1/11926 0/8216 1/3710
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