Full data view for gene DIAPH2

Information The variants shown are described using the NM_006729.4 transcript reference sequence.

152 entries on 2 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-51C>T r.(=) p.(=) g.95940007C>T Copied from the Exome Variant Server DIAPH2_000001 1/9178 0/5807 1/3371 - - - - - - -
?/? c.81C>T r.(=) p.(=) g.95940138C>T Copied from the Exome Variant Server DIAPH2_000002 1/10423 1/6656 0/3767 - - - - - - -
?/? c.91C>T r.(?) p.(Arg31Trp) g.95940148C>T Copied from the Exome Variant Server DIAPH2_000003 1/10463 0/6681 1/3782 - - - - - - -
?/? c.132+38_132+48del r.(=) p.(=) g.95940227_95940237del Copied from the Exome Variant Server DIAPH2_000004 20/9968 0/6327 20/3641 - - - - - - -
?/? c.133-33del r.(=) p.(=) g.95990724del Copied from the Exome Variant Server DIAPH2_000005 97/10195 75/6476 22/3719 - - - - - - -
?/? c.133-28_133-25del r.(=) p.(=) g.95990729_95990732del Copied from the Exome Variant Server DIAPH2_000006 30/10193 20/6474 10/3719 - - - - - - -
?/? c.165+5G>C r.spl? p.? g.95990794G>C Copied from the Exome Variant Server DIAPH2_000007 2/10557 2/6724 0/3833 - - - - - - -
?/? c.165+6G>C r.(=) p.(=) g.95990795G>C Copied from the Exome Variant Server DIAPH2_000008 1/10557 0/6724 1/3833 - - - - - - -
?/? c.165+47_165+51del r.(=) p.(=) g.95990836_95990840del Copied from the Exome Variant Server DIAPH2_000009 1/10197 0/6476 1/3721 - - - - - - -
?/? c.165+50A>T r.(=) p.(=) g.95990839A>T Copied from the Exome Variant Server DIAPH2_000010 1927/10555 1196/6720 731/3835 - - - - - - -
?/? c.165+76T>C r.(=) p.(=) g.95990865T>C Copied from the Exome Variant Server DIAPH2_000011 1/3589 1/2380 0/1209 - - - - - - -
?/? c.246C>T r.(=) p.(=) g.95993665C>T Copied from the Exome Variant Server DIAPH2_000012 2/10563 2/6728 0/3835 - - - - - - -
?/? c.247G>A r.(?) p.(Ala83Thr) g.95993666G>A Copied from the Exome Variant Server DIAPH2_000013 76/10563 72/6728 4/3835 - - - - - - -
?/? c.249G>A r.(=) p.(=) g.95993668G>A Copied from the Exome Variant Server DIAPH2_000014 3/10563 0/6728 3/3835 - - - - - - -
?/? c.262C>T r.(?) p.(Pro88Ser) g.95993681C>T Copied from the Exome Variant Server DIAPH2_000015 1/10563 0/6728 1/3835 - - - - - - -
?/? c.278T>C r.(?) p.(Leu93Ser) g.95993697T>C Copied from the Exome Variant Server DIAPH2_000016 2/10563 0/6728 2/3835 - - - - - - -
?/? c.342+6T>C r.(=) p.(=) g.95993767T>C Copied from the Exome Variant Server DIAPH2_000017 6/10561 3/6726 3/3835 - - - - - - -
?/? c.342+27A>G r.(=) p.(=) g.95993788A>G Copied from the Exome Variant Server DIAPH2_000018 1/10558 0/6725 1/3833 - - - - - - -
?/? c.343-26C>T r.(=) p.(=) g.96013127C>T Copied from the Exome Variant Server DIAPH2_000019 6/10562 0/6727 6/3835 - - - - - - -
?/? c.343-25C>T r.(=) p.(=) g.96013128C>T Copied from the Exome Variant Server DIAPH2_000020 1907/10562 1105/6727 802/3835 - - - - - - -
?/? c.343-24C>T r.(=) p.(=) g.96013129C>T Copied from the Exome Variant Server DIAPH2_000021 1202/10562 465/6727 737/3835 - - - - - - -
?/? c.360C>T r.(=) p.(=) g.96013170C>T Copied from the Exome Variant Server DIAPH2_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.399C>T r.(=) p.(=) g.96013209C>T Copied from the Exome Variant Server DIAPH2_000023 2/10563 2/6728 0/3835 - - - - - - -
?/? c.447+35359A>G r.(=) p.(=) g.96048616A>G Copied from the Exome Variant Server DIAPH2_000024 1/4525 0/3107 1/1418 - - - - - - -
?/? c.587+25A>G r.(=) p.(=) g.96136742A>G Copied from the Exome Variant Server DIAPH2_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.587+2551G>C r.(=) p.(=) g.96139268G>C Copied from the Exome Variant Server DIAPH2_000026 39/10562 0/6727 39/3835 - - - - - - -
?/? c.587+2605G>A r.(?) p.(Gly5Arg) g.96139322G>A Copied from the Exome Variant Server DIAPH2_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.587+2618A>G r.(?) p.(Tyr9Cys) g.96139335A>G Copied from the Exome Variant Server DIAPH2_000028 5/10563 2/6728 3/3835 - - - - - - -
?/? c.587+2689G>A r.(?) p.(Ala33Thr) g.96139406G>A Copied from the Exome Variant Server DIAPH2_000029 4442/10563 2002/6728 2440/3835 - - - - - - -
?/? c.587+2727C>T r.(=) p.(=) g.96139444C>T Copied from the Exome Variant Server DIAPH2_000030 6/10563 0/6728 6/3835 - - - - - - -
?/? c.587+2742T>C r.(=) p.(=) g.96139459T>C Copied from the Exome Variant Server DIAPH2_000031 4470/10563 2005/6728 2465/3835 - - - - - - -
?/? c.587+2751G>C r.(?) p.(Gln53His) g.96139468G>C Copied from the Exome Variant Server DIAPH2_000032 1/10563 0/6728 1/3835 - - - - - - -
?/? c.587+2953G>T r.(?) p.(Val121Phe) g.96139670G>T Copied from the Exome Variant Server DIAPH2_000033 1/10563 0/6728 1/3835 - - - - - - -
?/? c.587+2956G>A r.(?) p.(Gly122Arg) g.96139673G>A Copied from the Exome Variant Server DIAPH2_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.587+2987A>G r.(?) p.(Lys132Arg) g.96139704A>G Copied from the Exome Variant Server DIAPH2_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.587+2999G>A r.(?) p.(Gly136Glu) g.96139716G>A Copied from the Exome Variant Server DIAPH2_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.587+3012T>A r.(=) p.(=) g.96139729T>A Copied from the Exome Variant Server DIAPH2_000037 51/10563 48/6728 3/3835 - - - - - - -
?/? c.587+3029A>G r.(?) p.(His146Arg) g.96139746A>G Copied from the Exome Variant Server DIAPH2_000038 1/10563 0/6728 1/3835 - - - - - - -
?/? c.587+3054C>T r.(=) p.(=) g.96139771C>T Copied from the Exome Variant Server DIAPH2_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.587+3058G>A r.(?) p.(Val156Met) g.96139775G>A Copied from the Exome Variant Server DIAPH2_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.587+3064A>G r.(?) p.(Ile158Val) g.96139781A>G Copied from the Exome Variant Server DIAPH2_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.587+3160G>T r.(?) p.(Ala190Ser) g.96139877G>T Copied from the Exome Variant Server DIAPH2_000042 2/10563 2/6728 0/3835 - - - - - - -
?/? c.587+3184C>T r.(?) p.(Arg198Cys) g.96139901C>T Copied from the Exome Variant Server DIAPH2_000045 1/10563 0/6728 1/3835 - - - - - - -
?/? c.587+3241G>A r.(?) p.(Gly217Arg) g.96139958G>A Copied from the Exome Variant Server DIAPH2_000047 2/10563 2/6728 0/3835 - - - - - - -
?/? c.587+3348G>T r.(=) p.(=) g.96140065G>T Copied from the Exome Variant Server DIAPH2_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.587+3357G>A r.(=) p.(=) g.96140074G>A Copied from the Exome Variant Server DIAPH2_000051 1/10563 0/6728 1/3835 - - - - - - -
?/? c.587+3399A>G r.(=) p.(=) g.96140116A>G Copied from the Exome Variant Server DIAPH2_000053 3/10563 0/6728 3/3835 - - - - - - -
?/? c.588-39T>C r.(=) p.(=) g.96167288T>C Copied from the Exome Variant Server DIAPH2_000043 3/10351 0/6582 3/3769 - - - - - - -
?/? c.588C>T r.(=) p.(=) g.96167327C>T Copied from the Exome Variant Server DIAPH2_000044 58/10548 52/6720 6/3828 - - - - - - -
?/? c.657A>G r.(=) p.(=) g.96167396A>G Copied from the Exome Variant Server DIAPH2_000046 11/10555 0/6725 11/3830 - - - - - - -
?/? c.677A>T r.(?) p.(Asp226Val) g.96167496A>T Copied from the Exome Variant Server DIAPH2_000048 1/10545 0/6715 1/3830 - - - - - - -
?/? c.733-15_733-14insTC r.(=) p.(=) g.96171422_96171423insTC Copied from the Exome Variant Server DIAPH2_000050 471/10006 438/6395 33/3611 - - - - - - -
?/? c.790A>G r.(?) p.(Ile264Val) g.96171494A>G Copied from the Exome Variant Server DIAPH2_000052 1/10558 1/6723 0/3835 - - - - - - -
?/? c.869+47T>G r.(=) p.(=) g.96171620T>G Copied from the Exome Variant Server DIAPH2_000054 1/10540 1/6711 0/3829 - - - - - - -
?/? c.869+49A>G r.(=) p.(=) g.96171622A>G Copied from the Exome Variant Server DIAPH2_000055 2/10539 0/6708 2/3831 - - - - - - -
?/? c.870-8C>G r.(=) p.(=) g.96173500C>G Copied from the Exome Variant Server DIAPH2_000056 1/10561 1/6726 0/3835 - - - - - - -
?/? c.975A>G r.(=) p.(=) g.96173613A>G Copied from the Exome Variant Server DIAPH2_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.978+28C>G r.(=) p.(=) g.96173644C>G Copied from the Exome Variant Server DIAPH2_000058 1/10561 0/6727 1/3834 - - - - - - -
?/? c.979-26A>T r.(=) p.(=) g.96185706A>T Copied from the Exome Variant Server DIAPH2_000059 1/10559 1/6724 0/3835 - - - - - - -
?/? c.1032T>C r.(=) p.(=) g.96185785T>C Copied from the Exome Variant Server DIAPH2_000060 4/10561 3/6726 1/3835 - - - - - - -
?/? c.1063C>T r.(?) p.(Arg355Cys) g.96185816C>T Copied from the Exome Variant Server DIAPH2_000061 1/10561 0/6726 1/3835 - - - - - - -
?/? c.1196G>A r.(?) p.(Arg399Gln) g.96192338G>A Copied from the Exome Variant Server DIAPH2_000062 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1208+11A>G r.(=) p.(=) g.96192361A>G Copied from the Exome Variant Server DIAPH2_000063 1/10561 0/6726 1/3835 - - - - - - -
?/? c.1208+37A>C r.(=) p.(=) g.96192387A>C Copied from the Exome Variant Server DIAPH2_000064 8/10559 7/6726 1/3833 - - - - - - -
?/? c.1209-50T>C r.(=) p.(=) g.96194215T>C Copied from the Exome Variant Server DIAPH2_000065 1/10511 1/6688 0/3823 - - - - - - -
?/? c.1231C>T r.(?) p.(Leu411Phe) g.96194287C>T Copied from the Exome Variant Server DIAPH2_000066 1/10526 0/6695 1/3831 - - - - - - -
?/? c.1259C>A r.(?) p.(Ala420Asp) g.96194315C>A Copied from the Exome Variant Server DIAPH2_000067 1/10536 0/6703 1/3833 - - - - - - -
?/? c.1275C>G r.(?) p.(Phe425Leu) g.96194331C>G Copied from the Exome Variant Server DIAPH2_000068 6/10535 0/6704 6/3831 - - - - - - -
?/? c.1295T>G r.(?) p.(Phe432Cys) g.96194351T>G Copied from the Exome Variant Server DIAPH2_000069 1/10534 1/6701 0/3833 - - - - - - -
?/? c.1312G>T r.(?) p.(Asp438Tyr) g.96194368G>T Copied from the Exome Variant Server DIAPH2_000070 1/10532 0/6701 1/3831 - - - - - - -
?/? c.1325+25A>G r.(=) p.(=) g.96194406A>G Copied from the Exome Variant Server DIAPH2_000071 1/10513 1/6686 0/3827 - - - - - - -
?/? c.1325+26T>G r.(=) p.(=) g.96194407T>G Copied from the Exome Variant Server DIAPH2_000072 1/10513 0/6686 1/3827 - - - - - - -
?/? c.1325+42C>T r.(=) p.(=) g.96194423C>T Copied from the Exome Variant Server DIAPH2_000073 449/10503 421/6680 28/3823 - - - - - - -
?/? c.1329A>T r.(=) p.(=) g.96197020A>T Copied from the Exome Variant Server DIAPH2_000074 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1334A>G r.(?) p.(Tyr445Cys) g.96197025A>G Copied from the Exome Variant Server DIAPH2_000075 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1444+40G>A r.(=) p.(=) g.96197175G>A Copied from the Exome Variant Server DIAPH2_000076 10459/10559 6725/6726 3734/3833 - - - - - - -
?/? c.1445-26G>A r.(=) p.(=) g.96200500G>A Copied from the Exome Variant Server DIAPH2_000077 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1464G>A r.(=) p.(=) g.96200545G>A Copied from the Exome Variant Server DIAPH2_000078 1/10560 1/6725 0/3835 - - - - - - -
?/? c.1477A>G r.(?) p.(Ser493Gly) g.96200558A>G Copied from the Exome Variant Server DIAPH2_000079 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1509+28C>T r.(=) p.(=) g.96200618C>T Copied from the Exome Variant Server DIAPH2_000080 1/10559 0/6724 1/3835 - - - - - - -
?/? c.1509+29G>A r.(=) p.(=) g.96200619G>A Copied from the Exome Variant Server DIAPH2_000081 233/10559 1/6724 232/3835 - - - - - - -
?/? c.1510-48G>A r.(=) p.(=) g.96203886G>A Copied from the Exome Variant Server DIAPH2_000082 3/10543 3/6713 0/3830 - - - - - - -
?/? c.1510-32T>C r.(=) p.(=) g.96203902T>C Copied from the Exome Variant Server DIAPH2_000083 1/10557 1/6722 0/3835 - - - - - - -
?/? c.1510-4G>A r.spl? p.? g.96203930G>A Copied from the Exome Variant Server DIAPH2_000084 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1512C>T r.(=) p.(=) g.96203936C>T Copied from the Exome Variant Server DIAPH2_000085 97/10563 5/6728 92/3835 - - - - - - -
?/? c.1513G>C r.(?) p.(Asp505His) g.96203937G>C Copied from the Exome Variant Server DIAPH2_000086 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1547C>T r.(?) p.(Ala516Val) g.96203971C>T Copied from the Exome Variant Server DIAPH2_000087 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1586A>C r.(?) p.(Glu529Ala) g.96204010A>C Copied from the Exome Variant Server DIAPH2_000088 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1600C>G r.(?) p.(Gln534Glu) g.96204024C>G Copied from the Exome Variant Server DIAPH2_000089 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1621G>A r.(?) p.(Val541Ile) g.96212833G>A Copied from the Exome Variant Server DIAPH2_000090 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1701C>T r.(=) p.(=) g.96212913C>T Copied from the Exome Variant Server DIAPH2_000091 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1702G>A r.(?) p.(Ala568Thr) g.96212914G>A Copied from the Exome Variant Server DIAPH2_000092 3/10563 2/6728 1/3835 - - - - - - -
?/? c.1703C>T r.(?) p.(Ala568Val) g.96212915C>T Copied from the Exome Variant Server DIAPH2_000094 5/10563 0/6728 5/3835 - - - - - - -
?/? c.1716C>T r.(=) p.(=) g.96212928C>T Copied from the Exome Variant Server DIAPH2_000096 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1773A>G r.(=) p.(=) g.96212985A>G Copied from the Exome Variant Server DIAPH2_000098 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1792C>G r.(?) p.(Leu598Val) g.96213004C>G Copied from the Exome Variant Server DIAPH2_000100 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1794T>C r.(=) p.(=) g.96213006T>C Copied from the Exome Variant Server DIAPH2_000102 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1822C>A r.(?) p.(Pro608Thr) g.96213034C>A Copied from the Exome Variant Server DIAPH2_000093 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1834G>A r.(?) p.(Val612Ile) g.96213046G>A Copied from the Exome Variant Server DIAPH2_000095 5/10563 0/6728 5/3835 - - - - - - -
?/? c.1847C>T r.(?) p.(Pro616Leu) g.96213059C>T Copied from the Exome Variant Server DIAPH2_000097 1/10563 1/6728 0/3835 - - - - - - -
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