Unique variants in gene PCDH19

Information The variants shown are described using the NM_020766.2 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.6G>A r.(=) p.(=) g.99663590C>T Copied from the Exome Variant Server PCDH19_000084 9/9538 7/6186 2/3352
1 c.34_36del r.(?) p.(Leu12del) g.99663560_99663562del Copied from the Exome Variant Server PCDH19_000083 215/9085 159/5885 56/3200
1 c.81C>T r.(=) p.(=) g.99663515G>A Copied from the Exome Variant Server PCDH19_000082 88/10120 82/6543 6/3577
1 c.281G>A r.(?) p.(Arg94His) g.99663315C>T Copied from the Exome Variant Server PCDH19_000081 1/10297 1/6634 0/3663
1 c.292A>C r.(?) p.(Lys98Gln) g.99663304T>G Copied from the Exome Variant Server PCDH19_000080 1/10318 1/6641 0/3677
1 c.316A>G r.(?) p.(Met106Val) g.99663280T>C Copied from the Exome Variant Server PCDH19_000079 1/10370 1/6647 0/3723
1 c.402C>A r.(=) p.(=) g.99663194G>T Copied from the Exome Variant Server PCDH19_000078 486/10316 360/6628 126/3688
1 c.482T>C r.(?) p.(Phe161Ser) g.99663114A>G Copied from the Exome Variant Server PCDH19_000077 1/10239 1/6589 0/3650
1 c.540G>A r.(=) p.(=) g.99663056C>T Copied from the Exome Variant Server PCDH19_000076 1/10155 1/6551 0/3604
1 c.591C>T r.(=) p.(=) g.99663005G>A Copied from the Exome Variant Server PCDH19_000075 1/10350 1/6622 0/3728
1 c.594C>G r.(=) p.(=) g.99663002G>C Copied from the Exome Variant Server PCDH19_000074 2/10356 0/6626 2/3730
1 c.655C>T r.(=) p.(=) g.99662941G>A Copied from the Exome Variant Server PCDH19_000073 2/10430 0/6662 2/3768
1 c.717C>T r.(=) p.(=) g.99662879G>A Copied from the Exome Variant Server PCDH19_000072 10/10457 0/6675 10/3782
1 c.720G>A r.(=) p.(=) g.99662876C>T Copied from the Exome Variant Server PCDH19_000071 1/10460 1/6676 0/3784
1 c.769G>C r.(?) p.(Val257Leu) g.99662827C>G Copied from the Exome Variant Server PCDH19_000070 2/10497 2/6685 0/3812
1 c.792T>C r.(=) p.(=) g.99662804A>G Copied from the Exome Variant Server PCDH19_000069 1/10501 0/6695 1/3806
1 c.798C>T r.(=) p.(=) g.99662798G>A Copied from the Exome Variant Server PCDH19_000068 1/10505 1/6695 0/3810
1 c.862C>T r.(?) p.(Leu288Phe) g.99662734G>A Copied from the Exome Variant Server PCDH19_000067 1/10394 1/6647 0/3747
1 c.886G>A r.(?) p.(Gly296Ser) g.99662710C>T Copied from the Exome Variant Server PCDH19_000066 2/10329 0/6632 2/3697
1 c.888C>T r.(=) p.(=) g.99662708G>A Copied from the Exome Variant Server PCDH19_000065 1/10327 1/6628 0/3699
1 c.930C>T r.(=) p.(=) g.99662666G>A Copied from the Exome Variant Server PCDH19_000064 2/10408 1/6666 1/3742
1 c.948G>T r.(=) p.(=) g.99662648C>A Copied from the Exome Variant Server PCDH19_000063 1/10472 1/6680 0/3792
1 c.1107C>T r.(=) p.(=) g.99662489G>A Copied from the Exome Variant Server PCDH19_000062 1/10493 1/6679 0/3814
1 c.1137C>T r.(=) p.(=) g.99662459G>A Copied from the Exome Variant Server PCDH19_000061 117/10503 110/6694 7/3809
1 c.1209C>T r.(=) p.(=) g.99662387G>A Copied from the Exome Variant Server PCDH19_000060 1/10355 0/6618 1/3737
1 c.1218G>C r.(=) p.(=) g.99662378C>G Copied from the Exome Variant Server PCDH19_000059 1/10306 0/6597 1/3709
1 c.1294A>G r.(?) p.(Met432Val) g.99662302T>C Copied from the Exome Variant Server PCDH19_000058 4/10332 3/6623 1/3709
1 c.1321G>C r.(?) p.(Val441Leu) g.99662275C>G Copied from the Exome Variant Server PCDH19_000057 4/10313 4/6620 0/3693
1 c.1330A>G r.(?) p.(Thr444Ala) g.99662266T>C Copied from the Exome Variant Server PCDH19_000056 4/10321 3/6630 1/3691
1 c.1353G>A r.(=) p.(=) g.99662243C>T Copied from the Exome Variant Server PCDH19_000055 1/10268 0/6617 1/3651
1 c.1384G>A r.(?) p.(Val462Met) g.99662212C>T Copied from the Exome Variant Server PCDH19_000054 1/10289 1/6618 0/3671
1 c.1532A>G r.(?) p.(Asn511Ser) g.99662064T>C Copied from the Exome Variant Server PCDH19_000053 1/10432 1/6672 0/3760
1 c.1593C>A r.(?) p.(Phe531Leu) g.99662003G>T Copied from the Exome Variant Server PCDH19_000052 1/10450 1/6677 0/3773
1 c.1602G>A r.(=) p.(=) g.99661994C>T Copied from the Exome Variant Server PCDH19_000051 1/10452 0/6675 1/3777
1 c.1627C>T r.(=) p.(=) g.99661969G>A Copied from the Exome Variant Server PCDH19_000050 2096/10413 1917/6666 179/3747
1 c.1644G>A r.(=) p.(=) g.99661952C>T Copied from the Exome Variant Server PCDH19_000049 1/10402 1/6650 0/3752
1 c.1683G>A r.(=) p.(=) g.99661913C>T Copied from the Exome Variant Server PCDH19_000048 39/10335 39/6627 0/3708
1 c.1725C>T r.(=) p.(=) g.99661871G>A Copied from the Exome Variant Server PCDH19_000047 2/10247 2/6569 0/3678
1 c.2034C>T r.(=) p.(=) g.99661562G>A Copied from the Exome Variant Server PCDH19_000046 1/9889 1/6493 0/3396
1 c.2095G>A r.(?) p.(Val699Met) g.99661501C>T Copied from the Exome Variant Server PCDH19_000045 1/9735 1/6428 0/3307
1 c.2147+18T>C r.(=) p.(=) g.99661431A>G Copied from the Exome Variant Server PCDH19_000044 1/9734 0/6438 1/3296
1 c.2147+49T>C r.(=) p.(=) g.99661400A>G Copied from the Exome Variant Server PCDH19_000043 10/9679 0/6405 10/3274
1 c.2148-727T>C r.(=) p.(=) g.99658576A>G Copied from the Exome Variant Server PCDH19_000042 1/4525 1/3107 0/1418
1 c.2218C>T r.(?) p.(Arg740Cys) g.99657779G>A Copied from the Exome Variant Server PCDH19_000041 1/9801 1/6459 0/3342
1 c.2219G>T r.(?) p.(Arg740Leu) g.99657778C>A Copied from the Exome Variant Server PCDH19_000040 1/9813 1/6459 0/3354
1 c.2294A>G r.(?) p.(Asn765Ser) g.99657703T>C Copied from the Exome Variant Server PCDH19_000039 1/10020 0/6506 1/3514
1 c.2328G>A r.(=) p.(=) g.99657669C>T Copied from the Exome Variant Server PCDH19_000038 99/10001 2/6521 97/3480
1 c.2339G>A r.(?) p.(Arg780His) g.99657658C>T Copied from the Exome Variant Server PCDH19_000037 1/9984 1/6514 0/3470
1 c.2372A>G r.(?) p.(Gln791Arg) g.99657625T>C Copied from the Exome Variant Server PCDH19_000036 1/10064 1/6544 0/3520
1 c.2382C>T r.(=) p.(=) g.99657615G>A Copied from the Exome Variant Server PCDH19_000035 1/10056 1/6542 0/3514
1 c.2457C>T r.(=) p.(=) g.99657540G>A Copied from the Exome Variant Server PCDH19_000034 1/10062 1/6546 0/3516
1 c.2475+49T>C r.(=) p.(=) g.99657473A>G Copied from the Exome Variant Server PCDH19_000033 64/9937 57/6519 7/3418
1 c.2476-32G>C r.(=) p.(=) g.99605734C>G Copied from the Exome Variant Server PCDH19_000032 1/9626 1/6420 0/3206
1 c.2476-7A>G r.(=) p.(=) g.99605709T>C Copied from the Exome Variant Server PCDH19_000031 4/9509 0/6387 4/3122
1 c.2535-36C>T r.(=) p.(=) g.99597106G>A Copied from the Exome Variant Server PCDH19_000030 2/9865 1/6467 1/3398
1 c.2535-32C>A r.(=) p.(=) g.99597102G>T Copied from the Exome Variant Server PCDH19_000029 1/9911 1/6481 0/3430
1 c.2537C>A r.(?) p.(Ser846Tyr) g.99597068G>T Copied from the Exome Variant Server PCDH19_000028 1/10092 1/6527 0/3565
1 c.2577T>C r.(=) p.(=) g.99597028A>G Copied from the Exome Variant Server PCDH19_000027 1/10247 0/6576 1/3671
1 c.2622G>A r.(=) p.(=) g.99596983C>T Copied from the Exome Variant Server PCDH19_000026 2/10324 2/6622 0/3702
1 c.2642C>T r.(?) p.(Thr881Ile) g.99596963G>A Copied from the Exome Variant Server PCDH19_000025 1/10304 1/6622 0/3682
1 c.2646T>C r.(=) p.(=) g.99596959A>G Copied from the Exome Variant Server PCDH19_000024 4/10300 4/6622 0/3678
1 c.2652C>T r.(=) p.(=) g.99596953G>A Copied from the Exome Variant Server PCDH19_000023 31/10284 25/6614 6/3670
1 c.2654A>G r.(?) p.(Asp885Gly) g.99596951T>C Copied from the Exome Variant Server PCDH19_000022 1/10271 1/6607 0/3664
1 c.2676C>G r.(=) p.(=) g.99596929G>C Copied from the Exome Variant Server PCDH19_000021 1/10243 1/6597 0/3646
1 c.2684G>A r.(?) p.(Gly895Glu) g.99596921C>T Copied from the Exome Variant Server PCDH19_000020 1/10193 1/6579 0/3614
1 c.2704+44A>G r.(=) p.(=) g.99596857T>C Copied from the Exome Variant Server PCDH19_000019 17/9916 17/6512 0/3404
1 c.2789C>G r.(?) p.(Pro930Arg) g.99551789G>C Copied from the Exome Variant Server PCDH19_000018 1/10165 1/6587 0/3578
1 c.2794C>T r.(?) p.(Arg932Cys) g.99551784G>A Copied from the Exome Variant Server PCDH19_000017 3/10165 0/6587 3/3578
1 c.2795G>A r.(?) p.(Arg932His) g.99551783C>T Copied from the Exome Variant Server PCDH19_000016 1/10167 1/6589 0/3578
1 c.2821A>C r.(?) p.(Asn941His) g.99551757T>G Copied from the Exome Variant Server PCDH19_000015 1/10198 1/6598 0/3600
1 c.2831C>T r.(?) p.(Ala944Val) g.99551747G>A Copied from the Exome Variant Server PCDH19_000014 1/10221 0/6603 1/3618
1 c.2868T>C r.(=) p.(=) g.99551710A>G Copied from the Exome Variant Server PCDH19_000013 2/10275 0/6613 2/3662
1 c.2874C>T r.(=) p.(=) g.99551704G>A Copied from the Exome Variant Server PCDH19_000012 146/10268 2/6610 144/3658
1 c.2893C>A r.(=) p.(=) g.99551685G>T Copied from the Exome Variant Server PCDH19_000011 2/10275 0/6605 2/3670
1 c.3091C>G r.(?) p.(Pro1031Ala) g.99551487G>C Copied from the Exome Variant Server PCDH19_000010 5/10208 0/6580 5/3628
1 c.3118G>A r.(?) p.(Ala1040Thr) g.99551460C>T Copied from the Exome Variant Server PCDH19_000009 2/10133 2/6549 0/3584
1 c.3136C>G r.(?) p.(Leu1046Val) g.99551442G>C Copied from the Exome Variant Server PCDH19_000008 23/10108 23/6562 0/3546
1 c.3175C>G r.(?) p.(Arg1059Gly) g.99551403G>C Copied from the Exome Variant Server PCDH19_000007 19/10077 19/6553 0/3524
1 c.3211G>A r.(?) p.(Glu1071Lys) g.99551367C>T Copied from the Exome Variant Server PCDH19_000006 1/10049 1/6551 0/3498
1 c.3280C>T r.(?) p.(Arg1094Cys) g.99551298G>A Copied from the Exome Variant Server PCDH19_000005 1/9901 1/6487 0/3414
1 c.3293T>C r.(?) p.(Ile1098Thr) g.99551285A>G Copied from the Exome Variant Server PCDH19_000004 1/9808 0/6456 1/3352
1 c.3295G>A r.(?) p.(Val1099Ile) g.99551283C>T Copied from the Exome Variant Server PCDH19_000003 6/9777 0/6453 6/3324
1 c.*8T>C r.(=) p.(=) g.99551267A>G Copied from the Exome Variant Server PCDH19_000002 23/9706 0/6438 23/3268
1 c.*45A>T r.(=) p.(=) g.99551230T>A Copied from the Exome Variant Server PCDH19_000001 2/9598 2/6408 0/3190
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