Unique variants in gene PCDH11X

Information The variants shown are described using the NM_032969.3 transcript reference sequence.

108 entries on 2 pages. Showing entries 1 - 100.
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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.-25A>G r.(=) p.(=) g.91090479A>G Copied from the Exome Variant Server PCDH11X_000001 29/10563 1/6728 28/3835
1 c.-3G>C r.(=) p.(=) g.91090501G>C Copied from the Exome Variant Server PCDH11X_000002 1/10563 1/6728 0/3835
1 c.10T>C r.(=) p.(=) g.91090513T>C Copied from the Exome Variant Server PCDH11X_000003 85/10563 1/6728 84/3835
1 c.12G>T r.(?) p.(Leu4Phe) g.91090515G>T Copied from the Exome Variant Server PCDH11X_000004 3/10563 2/6728 1/3835
1 c.21G>A r.(=) p.(=) g.91090524G>A Copied from the Exome Variant Server PCDH11X_000005 5/10563 0/6728 5/3835
1 c.30C>T r.(=) p.(=) g.91090533C>T Copied from the Exome Variant Server PCDH11X_000006 793/10563 5/6728 788/3835
1 c.111C>T r.(=) p.(=) g.91090614C>T Copied from the Exome Variant Server PCDH11X_000007 2/10563 2/6728 0/3835
1 c.157C>T r.(?) p.(Pro53Ser) g.91090660C>T Copied from the Exome Variant Server PCDH11X_000008 2/10563 2/6728 0/3835
1 c.278G>A r.(?) p.(Arg93His) g.91090781G>A Copied from the Exome Variant Server PCDH11X_000009 1/10563 0/6728 1/3835
1 c.456G>A r.(=) p.(=) g.91090959G>A Copied from the Exome Variant Server PCDH11X_000010 1/10493 0/6698 1/3795
1 c.480C>T r.(=) p.(=) g.91090983C>T Copied from the Exome Variant Server PCDH11X_000011 1/10552 1/6721 0/3831
1 c.486G>A r.(=) p.(=) g.91090989G>A Copied from the Exome Variant Server PCDH11X_000012 1/10554 1/6724 0/3830
1 c.600A>G r.(=) p.(=) g.91131839A>G Copied from the Exome Variant Server PCDH11X_000013 4/10553 0/6722 4/3831
1 c.690C>T r.(=) p.(=) g.91131929C>T Copied from the Exome Variant Server PCDH11X_000014 1/10563 0/6728 1/3835
1 c.700A>G r.(?) p.(Ile234Val) g.91131939A>G Copied from the Exome Variant Server PCDH11X_000015 1/10563 1/6728 0/3835
1 c.718A>T r.(?) p.(Thr240Ser) g.91131957A>T Copied from the Exome Variant Server PCDH11X_000016 5/10563 5/6728 0/3835
1 c.766G>A r.(?) p.(Val256Ile) g.91132005G>A Copied from the Exome Variant Server PCDH11X_000017 1/10558 0/6723 1/3835
1 c.815A>G r.(?) p.(His272Arg) g.91132054A>G Copied from the Exome Variant Server PCDH11X_000018 1/10522 0/6690 1/3832
1 c.1011A>G r.(=) p.(=) g.91132250A>G Copied from the Exome Variant Server PCDH11X_000019 20/9802 1/6325 19/3477
1 c.1050T>C r.(=) p.(=) g.91132289T>C Copied from the Exome Variant Server PCDH11X_000020 1/10440 0/6652 1/3788
1 c.1067A>G r.(?) p.(Asp356Gly) g.91132306A>G Copied from the Exome Variant Server PCDH11X_000021 1/10505 1/6685 0/3820
1 c.1170G>A r.(=) p.(=) g.91132409G>A Copied from the Exome Variant Server PCDH11X_000022 2/10559 1/6724 1/3835
1 c.1226G>A r.(?) p.(Arg409Lys) g.91132465G>A Copied from the Exome Variant Server PCDH11X_000023 1/10563 0/6728 1/3835
1 c.1251C>T r.(=) p.(=) g.91132490C>T Copied from the Exome Variant Server PCDH11X_000024 1/10563 1/6728 0/3835
1 c.1344G>A r.(=) p.(=) g.91132583G>A Copied from the Exome Variant Server PCDH11X_000025 3/10528 0/6695 3/3833
1 c.1517G>A r.(?) p.(Gly506Asp) g.91132756G>A Copied from the Exome Variant Server PCDH11X_000026 1/10563 0/6728 1/3835
1 c.1557A>G r.(=) p.(=) g.91132796A>G Copied from the Exome Variant Server PCDH11X_000027 1/10562 1/6728 0/3834
1 c.1678A>G r.(?) p.(Ile560Val) g.91132917A>G Copied from the Exome Variant Server PCDH11X_000028 1/10554 0/6719 1/3835
1 c.1734T>C r.(=) p.(=) g.91132973T>C Copied from the Exome Variant Server PCDH11X_000029 1/10561 0/6726 1/3835
1 c.1803C>T r.(=) p.(=) g.91133042C>T Copied from the Exome Variant Server PCDH11X_000030 3/10539 0/6711 3/3828
1 c.2022T>C r.(=) p.(=) g.91133261T>C Copied from the Exome Variant Server PCDH11X_000031 1/10563 1/6728 0/3835
1 c.2037C>A r.(?) p.(Asn679Lys) g.91133276C>A Copied from the Exome Variant Server PCDH11X_000032 1/10563 1/6728 0/3835
1 c.2061G>A r.(=) p.(=) g.91133300G>A Copied from the Exome Variant Server PCDH11X_000033 86/10563 2/6728 84/3835
1 c.2261A>G r.(?) p.(Asn754Ser) g.91133500A>G Copied from the Exome Variant Server PCDH11X_000034 2/10558 0/6723 2/3835
1 c.2314G>A r.(?) p.(Val772Met) g.91133553G>A Copied from the Exome Variant Server PCDH11X_000035 1/10563 1/6728 0/3835
1 c.2316G>T r.(=) p.(=) g.91133555G>T Copied from the Exome Variant Server PCDH11X_000036 4/10563 0/6728 4/3835
1 c.2325G>T r.(=) p.(=) g.91133564G>T Copied from the Exome Variant Server PCDH11X_000037 5/10563 5/6728 0/3835
1 c.2396A>G r.(?) p.(Glu799Gly) g.91133635A>G Copied from the Exome Variant Server PCDH11X_000038 1/10563 1/6728 0/3835
1 c.2473G>A r.(?) p.(Val825Ile) g.91133712G>A Copied from the Exome Variant Server PCDH11X_000039 1/10554 0/6719 1/3835
1 c.2548C>A r.(?) p.(Gln850Lys) g.91133787C>A Copied from the Exome Variant Server PCDH11X_000040 1/10561 1/6728 0/3833
1 c.2640C>T r.(=) p.(=) g.91133879C>T Copied from the Exome Variant Server PCDH11X_000041 3/10563 3/6728 0/3835
1 c.2687T>C r.(?) p.(Val896Ala) g.91133926T>C Copied from the Exome Variant Server PCDH11X_000042 13/10563 0/6728 13/3835
1 c.2905G>A r.(?) p.(Asp969Asn) g.91134144G>A Copied from the Exome Variant Server PCDH11X_000043 1/10563 1/6728 0/3835
1 c.2941_2943del r.(?) p.(Cys981del) g.91134180_91134182del Copied from the Exome Variant Server PCDH11X_000044 6/10205 0/6484 6/3721
1 c.2971G>A r.(?) p.(Val991Ile) g.91134210G>A Copied from the Exome Variant Server PCDH11X_000045 1/10563 0/6728 1/3835
1 c.2996C>T r.(?) p.(Thr999Met) g.91134235C>T Copied from the Exome Variant Server PCDH11X_000046 1/10563 1/6728 0/3835
1 c.3000C>G r.(=) p.(=) g.91134239C>G Copied from the Exome Variant Server PCDH11X_000047 1/10563 0/6728 1/3835
1 c.3018C>T r.(=) p.(=) g.91134257C>T Copied from the Exome Variant Server PCDH11X_000048 1/10563 1/6728 0/3835
1 c.3033G>A r.(=) p.(=) g.91134272G>A Copied from the Exome Variant Server PCDH11X_000049 8/10563 0/6728 8/3835
1 c.3033+36_3033+37insT r.(=) p.(=) g.91134308_91134309insT Copied from the Exome Variant Server PCDH11X_000050 29/10014 23/6355 6/3659
1 c.3033+46T>G r.(=) p.(=) g.91134318T>G Copied from the Exome Variant Server PCDH11X_000051 3/10369 3/6605 0/3764
1 c.3033+3557A>G r.(=) p.(=) g.91137829A>G Copied from the Exome Variant Server PCDH11X_000052 1/3600 0/2391 1/1209
1 c.3033+3562G>A r.(=) p.(=) g.91137834G>A Copied from the Exome Variant Server PCDH11X_000053 23/3600 0/2391 23/1209
1 c.3033+3590C>G r.(=) p.(=) g.91137862C>G Copied from the Exome Variant Server PCDH11X_000054 1/10559 1/6726 0/3833
1 c.3033+3601G>C r.(=) p.(=) g.91137873G>C Copied from the Exome Variant Server PCDH11X_000055 137/10559 127/6726 10/3833
1 c.3033+3613G>A r.(=) p.(=) g.91137885G>A Copied from the Exome Variant Server PCDH11X_000056 142/10561 5/6726 137/3835
1 c.3033+3633G>A r.(=) p.(=) g.91137905G>A Copied from the Exome Variant Server PCDH11X_000057 1/10561 1/6726 0/3835
1 c.3033+3644G>T r.(=) p.(=) g.91137916G>T Copied from the Exome Variant Server PCDH11X_000058 1/10561 0/6726 1/3835
1 c.3033+3683C>G r.(=) p.(=) g.91137955C>G Copied from the Exome Variant Server PCDH11X_000059 1/10562 1/6727 0/3835
1 c.3033+3695A>G r.(=) p.(=) g.91137967A>G Copied from the Exome Variant Server PCDH11X_000060 1/10562 0/6727 1/3835
1 c.3033+3701C>T r.(=) p.(=) g.91137973C>T Copied from the Exome Variant Server PCDH11X_000061 1/10560 1/6726 0/3834
1 c.3033+3725T>C r.(=) p.(=) g.91137997T>C Copied from the Exome Variant Server PCDH11X_000062 256/10549 240/6719 16/3830
1 c.3033+3733_3033+3734insT r.(=) p.(=) g.91138005_91138006insT Copied from the Exome Variant Server PCDH11X_000063 11/10166 0/6466 11/3700
1 c.3034-6C>T r.(=) p.(=) g.91456368C>T Copied from the Exome Variant Server PCDH11X_000064 1/10563 1/6728 0/3835
1 c.3053G>A r.(?) p.(Arg1018Gln) g.91456393G>A Copied from the Exome Variant Server PCDH11X_000065 73/10563 72/6728 1/3835
1 c.3060C>T r.(=) p.(=) g.91456400C>T Copied from the Exome Variant Server PCDH11X_000066 6/10563 6/6728 0/3835
1 c.3090G>A r.(=) p.(=) g.91456430G>A Copied from the Exome Variant Server PCDH11X_000067 1/10563 1/6728 0/3835
1 c.3092T>A r.(?) p.(Ile1031Asn) g.91456432T>A Copied from the Exome Variant Server PCDH11X_000068 1/10563 0/6728 1/3835
1 c.3114+4T>G r.spl? p.? g.91456458T>G Copied from the Exome Variant Server PCDH11X_000069 791/10563 185/6728 606/3835
1 c.3114+13C>A r.(=) p.(=) g.91456467C>A Copied from the Exome Variant Server PCDH11X_000070 1417/10563 1282/6728 135/3835
1 c.3114+34T>C r.(=) p.(=) g.91456488T>C Copied from the Exome Variant Server PCDH11X_000071 1/10563 1/6728 0/3835
1 c.3114+61622C>T r.(=) p.(=) g.91518076C>T Copied from the Exome Variant Server PCDH11X_000072 1/10538 1/6710 0/3828
1 c.3114+61659C>T r.(=) p.(=) g.91518113C>T Copied from the Exome Variant Server PCDH11X_000073 1/10557 1/6726 0/3831
1 c.3114+61684G>A r.(=) p.(=) g.91518138G>A Copied from the Exome Variant Server PCDH11X_000074 188/10558 174/6725 14/3833
1 c.3114+61723A>C r.(=) p.(=) g.91518177A>C Copied from the Exome Variant Server PCDH11X_000075 1/10545 1/6716 0/3829
1 c.3114+86440C>T r.(=) p.(=) g.91542894C>T Copied from the Exome Variant Server PCDH11X_000076 8/3600 1/2391 7/1209
1 c.3115-35A>G r.(=) p.(=) g.91642699A>G Copied from the Exome Variant Server PCDH11X_000077 34/10555 0/6724 34/3831
1 c.3140T>C r.(?) p.(Leu1047Pro) g.91642759T>C Copied from the Exome Variant Server PCDH11X_000078 2/10549 0/6718 2/3831
1 c.3190G>T r.(?) p.(Asp1064Tyr) g.91642809G>T Copied from the Exome Variant Server PCDH11X_000079 2/10555 2/6724 0/3831
1 c.3301G>A r.(?) p.(Asp1101Asn) g.91642920G>A Copied from the Exome Variant Server PCDH11X_000080 1/10516 1/6687 0/3829
1 c.3313+8A>G r.(=) p.(=) g.91642940A>G Copied from the Exome Variant Server PCDH11X_000081 3/10513 0/6684 3/3829
1 c.3313+13T>C r.(=) p.(=) g.91642945T>C Copied from the Exome Variant Server PCDH11X_000082 1/10510 1/6681 0/3829
1 c.3313+32553G>A r.(=) p.(=) g.91675485G>A Copied from the Exome Variant Server PCDH11X_000083 15/4525 15/3107 0/1418
1 c.3329T>C r.(?) p.(Leu1110Pro) g.91723313T>C Copied from the Exome Variant Server PCDH11X_000084 136/10485 123/6675 13/3810
1 c.3337+9G>T r.(=) p.(=) g.91723330G>T Copied from the Exome Variant Server PCDH11X_000085 1/10506 1/6693 0/3813
1 c.3337+37C>A r.(=) p.(=) g.91723358C>A Copied from the Exome Variant Server PCDH11X_000086 1/10518 0/6702 1/3816
1 c.3337+81_3337+82insT r.(=) p.(=) g.91723402_91723403insT Copied from the Exome Variant Server PCDH11X_000087 1/10097 1/6421 0/3676
1 c.3338-15T>A r.(=) p.(=) g.91873248T>A Copied from the Exome Variant Server PCDH11X_000088 7/10522 0/6701 7/3821
1 c.3338-11C>T r.(=) p.(=) g.91873252C>T Copied from the Exome Variant Server PCDH11X_000089 7/10544 0/6715 7/3829
1 c.3338-8C>T r.(=) p.(=) g.91873255C>T Copied from the Exome Variant Server PCDH11X_000090 19/10549 16/6719 3/3830
1 c.3340G>C r.(?) p.(Ala1114Pro) g.91873265G>C Copied from the Exome Variant Server PCDH11X_000091 21/10557 0/6725 21/3832
1 c.3343G>C r.(?) p.(Glu1115Gln) g.91873268G>C Copied from the Exome Variant Server PCDH11X_000092 1/10557 1/6725 0/3832
1 c.3455G>A r.(?) p.(Ser1152Asn) g.91873380G>A Copied from the Exome Variant Server PCDH11X_000093 1/10563 1/6728 0/3835
1 c.3548T>C r.(?) p.(Ile1183Thr) g.91873473T>C Copied from the Exome Variant Server PCDH11X_000094 1/10563 1/6728 0/3835
1 c.3584T>C r.(?) p.(Ile1195Thr) g.91873509T>C Copied from the Exome Variant Server PCDH11X_000095 1/10563 0/6728 1/3835
1 c.3590T>C r.(?) p.(Leu1197Ser) g.91873515T>C Copied from the Exome Variant Server PCDH11X_000096 1/10563 0/6728 1/3835
1 c.3608C>T r.(?) p.(Pro1203Leu) g.91873533C>T Copied from the Exome Variant Server PCDH11X_000097 7/10559 1/6724 6/3835
1 c.3671G>A r.(?) p.(Ser1224Asn) g.91873596G>A Copied from the Exome Variant Server PCDH11X_000098 1/10563 0/6728 1/3835
1 c.3747T>C r.(=) p.(=) g.91873672T>C Copied from the Exome Variant Server PCDH11X_000099 1/10563 0/6728 1/3835
1 c.3756A>G r.(=) p.(=) g.91873681A>G Copied from the Exome Variant Server PCDH11X_000100 1/10563 1/6728 0/3835
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