Full data view for gene PDZD4

Information The variants shown are described using the NM_032512.2 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-37C>G r.(=) p.(=) g.153095790G>C Copied from the Exome Variant Server PDZD4_000006 2/10556 2/6724 0/3832 - - - - - - -
?/? c.-27C>G r.(=) p.(=) g.153095780G>C Copied from the Exome Variant Server PDZD4_000005 1/10557 0/6725 1/3832 - - - - - - -
?/? c.24C>T r.(=) p.(=) g.153095730G>A Copied from the Exome Variant Server PDZD4_000004 1/10558 1/6726 0/3832 - - - - - - -
?/? c.60+15G>C r.(=) p.(=) g.153095679C>G Copied from the Exome Variant Server PDZD4_000003 5/10534 5/6711 0/3823 - - - - - - -
?/? c.60+19C>T r.(=) p.(=) g.153095675G>A Copied from the Exome Variant Server PDZD4_000002 1/10524 0/6703 1/3821 - - - - - - -
?/? c.60+28C>A r.(=) p.(=) g.153095666G>T Copied from the Exome Variant Server PDZD4_000001 2/10489 0/6671 2/3818 - - - - - - -
?/? c.61-15G>A r.(=) p.(=) g.153074065C>T Copied from the Exome Variant Server PDZD4_000041 8/10538 0/6713 8/3825 - - - - - - -
?/? c.61-5C>T r.spl? p.? g.153074055G>A Copied from the Exome Variant Server PDZD4_000040 1/10543 0/6717 1/3826 - - - - - - -
?/? c.78C>G r.(=) p.(=) g.153074033G>C Copied from the Exome Variant Server PDZD4_000039 1/10553 0/6725 1/3828 - - - - - - -
?/? c.154C>T r.(?) p.(Arg52Cys) g.153073957G>A Copied from the Exome Variant Server PDZD4_000038 1/10559 0/6726 1/3833 - - - - - - -
?/? c.170G>A r.(?) p.(Arg57Gln) g.153073941C>T Copied from the Exome Variant Server PDZD4_000037 8/10556 8/6723 0/3833 - - - - - - -
?/? c.222C>T r.(=) p.(=) g.153073889G>A Copied from the Exome Variant Server PDZD4_000036 1/10559 1/6726 0/3833 - - - - - - -
?/? c.244A>C r.(?) p.(Met82Leu) g.153073867T>G Copied from the Exome Variant Server PDZD4_000035 1/10561 1/6727 0/3834 - - - - - - -
?/? c.280A>G r.(?) p.(Met94Val) g.153073831T>C Copied from the Exome Variant Server PDZD4_000034 1/10555 1/6723 0/3832 - - - - - - -
?/? c.329C>A r.(?) p.(Ala110Glu) g.153072792G>T Copied from the Exome Variant Server PDZD4_000033 1/10556 0/6724 1/3832 - - - - - - -
?/? c.345C>T r.(=) p.(=) g.153072776G>A Copied from the Exome Variant Server PDZD4_000032 4/10555 4/6725 0/3830 - - - - - - -
?/? c.387+6C>T r.(=) p.(=) g.153072728G>A Copied from the Exome Variant Server PDZD4_000031 1/10545 1/6718 0/3827 - - - - - - -
?/? c.387+8G>A r.(=) p.(=) g.153072726C>T Copied from the Exome Variant Server PDZD4_000030 1/10542 1/6716 0/3826 - - - - - - -
?/? c.387+10G>A r.(=) p.(=) g.153072724C>T Copied from the Exome Variant Server PDZD4_000029 1/10540 0/6716 1/3824 - - - - - - -
?/? c.388-51C>T r.(=) p.(=) g.153072346G>A Copied from the Exome Variant Server PDZD4_000028 2/10550 2/6721 0/3829 - - - - - - -
?/? c.450G>A r.(=) p.(=) g.153072233C>T Copied from the Exome Variant Server PDZD4_000027 29/10562 0/6728 29/3834 - - - - - - -
?/? c.452A>G r.(?) p.(Asp151Gly) g.153072231T>C Copied from the Exome Variant Server PDZD4_000026 1/10562 0/6728 1/3834 - - - - - - -
?/? c.453C>T r.(=) p.(=) g.153072230G>A Copied from the Exome Variant Server PDZD4_000025 15/10562 1/6728 14/3834 - - - - - - -
?/? c.456C>G r.(?) p.(Asp152Glu) g.153072227G>C Copied from the Exome Variant Server PDZD4_000024 1/10562 1/6728 0/3834 - - - - - - -
?/? c.487-48G>A r.(=) p.(=) g.153071636C>T Copied from the Exome Variant Server PDZD4_000086 1/10561 1/6727 0/3834 - - - - - - -
?/? c.487-24C>G r.(=) p.(=) g.153071612G>C Copied from the Exome Variant Server PDZD4_000085 15/10561 0/6727 15/3834 - - - - - - -
?/? c.489A>G r.(=) p.(=) g.153071586T>C Copied from the Exome Variant Server PDZD4_000066 1/10560 0/6726 1/3834 - - - - - - -
?/? c.544A>G r.(?) p.(Ile182Val) g.153071531T>C Copied from the Exome Variant Server PDZD4_000065 1/10562 1/6727 0/3835 - - - - - - -
?/? c.549+5G>C r.spl? p.? g.153071521C>G Copied from the Exome Variant Server PDZD4_000064 1/10562 1/6727 0/3835 - - - - - - -
?/? c.612C>T r.(=) p.(=) g.153070999G>A Copied from the Exome Variant Server PDZD4_000063 875/10561 399/6727 476/3834 - - - - - - -
?/? c.651+20C>T r.(=) p.(=) g.153070940G>A Copied from the Exome Variant Server PDZD4_000062 2/10560 0/6727 2/3833 - - - - - - -
?/? c.651+25C>T r.(=) p.(=) g.153070935G>A Copied from the Exome Variant Server PDZD4_000061 1/10558 1/6726 0/3832 - - - - - - -
?/? c.651+25_651+26insC r.(=) p.(=) g.153070934_153070935insG Copied from the Exome Variant Server PDZD4_000060 5/10201 0/6483 5/3718 - - - - - - -
?/? c.652-26G>A r.(=) p.(=) g.153070688C>T Copied from the Exome Variant Server PDZD4_000059 1/10562 1/6727 0/3835 - - - - - - -
?/? c.652-25G>C r.(=) p.(=) g.153070687C>G Copied from the Exome Variant Server PDZD4_000058 1/10561 0/6726 1/3835 - - - - - - -
?/? c.652-8C>G r.(=) p.(=) g.153070670G>C Copied from the Exome Variant Server PDZD4_000057 8/10563 8/6728 0/3835 - - - - - - -
?/? c.679C>T r.(?) p.(Arg227Trp) g.153070635G>A Copied from the Exome Variant Server PDZD4_000056 1/10563 1/6728 0/3835 - - - - - - -
?/? c.724C>T r.(=) p.(=) g.153070590G>A Copied from the Exome Variant Server PDZD4_000055 2/10563 2/6728 0/3835 - - - - - - -
?/? c.727C>T r.(?) p.(Arg243Cys) g.153070587G>A Copied from the Exome Variant Server PDZD4_000054 1/10563 1/6728 0/3835 - - - - - - -
?/? c.762+19G>A r.(=) p.(=) g.153070533C>T Copied from the Exome Variant Server PDZD4_000053 1/10562 0/6727 1/3835 - - - - - - -
?/? c.762+28G>C r.(=) p.(=) g.153070524C>G Copied from the Exome Variant Server PDZD4_000052 1/10562 0/6727 1/3835 - - - - - - -
?/? c.762+31G>C r.(=) p.(=) g.153070521C>G Copied from the Exome Variant Server PDZD4_000051 2/10562 1/6727 1/3835 - - - - - - -
?/? c.762+42G>A r.(=) p.(=) g.153070510C>T Copied from the Exome Variant Server PDZD4_000050 1/10560 1/6726 0/3834 - - - - - - -
?/? c.762+44_762+45del r.(=) p.(=) g.153070507_153070508del Copied from the Exome Variant Server PDZD4_000049 6/10202 3/6482 3/3720 - - - - - - -
?/? c.763-40C>T r.(=) p.(=) g.153070395G>A Copied from the Exome Variant Server PDZD4_000048 1/10545 1/6718 0/3827 - - - - - - -
?/? c.763-35G>T r.(=) p.(=) g.153070390C>A Copied from the Exome Variant Server PDZD4_000047 646/10547 2/6720 644/3827 - - - - - - -
?/? c.763-30A>C r.(=) p.(=) g.153070385T>G Copied from the Exome Variant Server PDZD4_000046 1/10543 1/6716 0/3827 - - - - - - -
?/? c.763-8T>C r.(=) p.(=) g.153070363A>G Copied from the Exome Variant Server PDZD4_000045 1/10548 1/6717 0/3831 - - - - - - -
?/? c.772G>A r.(?) p.(Glu258Lys) g.153070346C>T Copied from the Exome Variant Server PDZD4_000044 1/10552 1/6718 0/3834 - - - - - - -
?/? c.861C>T r.(=) p.(=) g.153070257G>A Copied from the Exome Variant Server PDZD4_000043 1/10558 0/6725 1/3833 - - - - - - -
?/? c.949C>T r.(=) p.(=) g.153070169G>A Copied from the Exome Variant Server PDZD4_000042 1/10560 0/6725 1/3835 - - - - - - -
?/? c.1049C>T r.(?) p.(Thr350Met) g.153070069G>A Copied from the Exome Variant Server PDZD4_000084 1/10557 1/6724 0/3833 - - - - - - -
?/? c.1089C>G r.(?) p.(Ile363Met) g.153070029G>C Copied from the Exome Variant Server PDZD4_000083 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1108G>C r.(?) p.(Gly370Arg) g.153070010C>G Copied from the Exome Variant Server PDZD4_000082 2/10562 2/6727 0/3835 - - - - - - -
?/? c.1143C>G r.(=) p.(=) g.153069975G>C Copied from the Exome Variant Server PDZD4_000081 1/10561 1/6727 0/3834 - - - - - - -
?/? c.1216C>T r.(=) p.(=) g.153069902G>A Copied from the Exome Variant Server PDZD4_000080 1/10560 1/6726 0/3834 - - - - - - -
?/? c.1228G>A r.(?) p.(Glu410Lys) g.153069890C>T Copied from the Exome Variant Server PDZD4_000079 1/10559 1/6725 0/3834 - - - - - - -
?/? c.1303C>T r.(=) p.(=) g.153069815G>A Copied from the Exome Variant Server PDZD4_000078 2/10543 2/6711 0/3832 - - - - - - -
?/? c.1306G>C r.(?) p.(Glu436Gln) g.153069812C>G Copied from the Exome Variant Server PDZD4_000077 1/10547 0/6717 1/3830 - - - - - - -
?/? c.1323C>T r.(=) p.(=) g.153069795G>A Copied from the Exome Variant Server PDZD4_000076 1/10548 0/6715 1/3833 - - - - - - -
?/? c.1334C>T r.(?) p.(Ala445Val) g.153069784G>A Copied from the Exome Variant Server PDZD4_000075 1/10552 1/6720 0/3832 - - - - - - -
?/? c.1380C>T r.(=) p.(=) g.153069738G>A Copied from the Exome Variant Server PDZD4_000074 3/10554 3/6720 0/3834 - - - - - - -
?/? c.1410C>T r.(=) p.(=) g.153069708G>A Copied from the Exome Variant Server PDZD4_000073 4/10534 4/6710 0/3824 - - - - - - -
?/? c.1496A>G r.(?) p.(Asn499Ser) g.153069622T>C Copied from the Exome Variant Server PDZD4_000072 3/10246 3/6541 0/3705 - - - - - - -
?/? c.1639_1640insCC r.(?) p.(Arg547Profs*9) g.153069478_153069479insGG Copied from the Exome Variant Server PDZD4_000071 81/7297 48/4558 33/2739 - - - - - - -
?/? c.1656G>A r.(=) p.(=) g.153069462C>T Copied from the Exome Variant Server PDZD4_000070 7/8902 0/5656 7/3246 - - - - - - -
?/? c.1698C>T r.(=) p.(=) g.153069420G>A Copied from the Exome Variant Server PDZD4_000069 4/9322 4/5911 0/3411 - - - - - - -
?/? c.1716C>T r.(=) p.(=) g.153069402G>A Copied from the Exome Variant Server PDZD4_000068 1/9212 1/5831 0/3381 - - - - - - -
?/? c.1845G>A r.(=) p.(=) g.153069273C>T Copied from the Exome Variant Server PDZD4_000067 1/10480 0/6671 1/3809 - - - - - - -
?/? c.1914G>A r.(=) p.(=) g.153069204C>T Copied from the Exome Variant Server PDZD4_000023 12/10536 10/6706 2/3830 - - - - - - -
?/? c.1920C>T r.(=) p.(=) g.153069198G>A Copied from the Exome Variant Server PDZD4_000022 1/10523 0/6693 1/3830 - - - - - - -
?/? c.1992C>T r.(=) p.(=) g.153069126G>A Copied from the Exome Variant Server PDZD4_000021 1/10561 0/6726 1/3835 - - - - - - -
?/? c.1984_1996del r.(?) p.(Thr662Argfs*2) g.153069122_153069134del Copied from the Exome Variant Server PDZD4_000020 17/10199 10/6480 7/3719 - - - - - - -
?/? c.2061G>C r.(=) p.(=) g.153069057C>G Copied from the Exome Variant Server PDZD4_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2091C>G r.(?) p.(Phe697Leu) g.153069027G>C Copied from the Exome Variant Server PDZD4_000018 29/10563 0/6728 29/3835 - - - - - - -
?/? c.2097G>A r.(?) p.(Met699Ile) g.153069021C>T Copied from the Exome Variant Server PDZD4_000017 41/10562 0/6728 41/3834 - - - - - - -
?/? c.2121G>A r.(=) p.(=) g.153068997C>T Copied from the Exome Variant Server PDZD4_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2137G>A r.(?) p.(Asp713Asn) g.153068981C>T Copied from the Exome Variant Server PDZD4_000015 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2175C>T r.(=) p.(=) g.153068943G>A Copied from the Exome Variant Server PDZD4_000014 1/10562 1/6727 0/3835 - - - - - - -
?/? c.2214C>T r.(=) p.(=) g.153068904G>A Copied from the Exome Variant Server PDZD4_000013 9/10559 7/6726 2/3833 - - - - - - -
?/? c.2223C>T r.(=) p.(=) g.153068895G>A Copied from the Exome Variant Server PDZD4_000012 1/10558 1/6726 0/3832 - - - - - - -
?/? c.2253G>A r.(=) p.(=) g.153068865C>T Copied from the Exome Variant Server PDZD4_000011 3/10556 3/6726 0/3830 - - - - - - -
?/? c.2295A>G r.(=) p.(=) g.153068823T>C Copied from the Exome Variant Server PDZD4_000010 2/10550 0/6723 2/3827 - - - - - - -
?/? c.*4G>A r.(=) p.(=) g.153068804C>T Copied from the Exome Variant Server PDZD4_000009 1/10548 0/6721 1/3827 - - - - - - -
?/? c.*17C>A r.(=) p.(=) g.153068791G>T Copied from the Exome Variant Server PDZD4_000008 4/10546 4/6719 0/3827 - - - - - - -
?/? c.*29C>T r.(=) p.(=) g.153068779G>A Copied from the Exome Variant Server PDZD4_000007 1/10530 1/6711 0/3819 - - - - - - -
Legend