Unique variants in gene ATRX

Information The variants shown are described using the NM_000489.3 transcript reference sequence.

195 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.-34A>G r.(=) p.(=) g.77041521T>C Copied from the Exome Variant Server ATRX_000193 1/10527 1/6707 0/3820
1 c.-14G>A r.(=) p.(=) g.77041501C>T Copied from the Exome Variant Server ATRX_000191 78/10541 64/6713 14/3828
1 c.20+15C>A r.(=) p.(=) g.77041453G>T Copied from the Exome Variant Server ATRX_000189 1/10548 1/6718 0/3830
1 c.20+22T>C r.(=) p.(=) g.77041446A>G Copied from the Exome Variant Server ATRX_000187 55/10538 4/6716 51/3822
1 c.20+50C>G r.(=) p.(=) g.77041418G>C Copied from the Exome Variant Server ATRX_000185 1/10518 0/6707 1/3811
1 c.21-31T>G r.(=) p.(=) g.76972751A>C Copied from the Exome Variant Server ATRX_000195 2/10554 0/6719 2/3835
1 c.118A>G r.(?) p.(Met40Val) g.76972623T>C Copied from the Exome Variant Server ATRX_000194 2/10558 1/6723 1/3835
1 c.190-40G>A r.(=) p.(=) g.76953163C>T Copied from the Exome Variant Server ATRX_000192 5/10558 0/6723 5/3835
1 c.228G>A r.(=) p.(=) g.76953085C>T Copied from the Exome Variant Server ATRX_000190 387/10558 0/6723 387/3835
1 c.242+9A>G r.(=) p.(=) g.76953062T>C Copied from the Exome Variant Server ATRX_000188 1/10558 0/6723 1/3835
1 c.242+67T>C r.(=) p.(=) g.76953004A>G Copied from the Exome Variant Server ATRX_000186 1/3600 1/2391 0/1209
1 c.243-48C>T r.(=) p.(=) g.76952240G>A Copied from the Exome Variant Server ATRX_000184 1/10532 1/6701 0/3831
1 c.253A>G r.(?) p.(Ile85Val) g.76952182T>C Copied from the Exome Variant Server ATRX_000183 1/10549 0/6716 1/3833
1 c.288A>G r.(=) p.(=) g.76952147T>C Copied from the Exome Variant Server ATRX_000182 15/10552 9/6719 6/3833
1 c.370+35G>A r.(=) p.(=) g.76952030C>T Copied from the Exome Variant Server ATRX_000181 214/10543 197/6710 17/3833
1 c.484+7A>G r.(=) p.(=) g.76949306T>C Copied from the Exome Variant Server ATRX_000180 1/10561 0/6726 1/3835
1 c.484+27A>G r.(=) p.(=) g.76949286T>C Copied from the Exome Variant Server ATRX_000179 4/10557 0/6724 4/3833
1 c.485-17C>G r.(=) p.(=) g.76944437G>C Copied from the Exome Variant Server ATRX_000178 38/10558 0/6723 38/3835
1 c.501G>A r.(=) p.(=) g.76944404C>T Copied from the Exome Variant Server ATRX_000177 1/10558 0/6723 1/3835
1 c.546A>G r.(=) p.(=) g.76944359T>C Copied from the Exome Variant Server ATRX_000176 1/10558 0/6723 1/3835
1 c.594+31G>A r.(=) p.(=) g.76944280C>T Copied from the Exome Variant Server ATRX_000175 1/10558 0/6723 1/3835
1 c.595-36T>C r.(=) p.(=) g.76940534A>G Copied from the Exome Variant Server ATRX_000174 5351/10548 2056/6714 3295/3834
1 c.595-17del r.(=) p.(=) g.76940515del Copied from the Exome Variant Server ATRX_000173 1/10195 1/6474 0/3721
1 c.662+11T>C r.(=) p.(=) g.76940420A>G Copied from the Exome Variant Server ATRX_000172 4/10553 0/6718 4/3835
1 c.663-20T>G r.(=) p.(=) g.76940105A>C Copied from the Exome Variant Server ATRX_000171 1/10056 1/6333 0/3723
1 c.712G>A r.(?) p.(Ala238Thr) g.76940036C>T Copied from the Exome Variant Server ATRX_000170 1/10546 1/6711 0/3835
1 c.798C>T r.(=) p.(=) g.76939950G>A Copied from the Exome Variant Server ATRX_000169 1/10558 1/6723 0/3835
1 c.820T>C r.(=) p.(=) g.76939928A>G Copied from the Exome Variant Server ATRX_000168 2/10558 0/6723 2/3835
1 c.831C>T r.(=) p.(=) g.76939917G>A Copied from the Exome Variant Server ATRX_000167 1/10558 1/6723 0/3835
1 c.846C>T r.(=) p.(=) g.76939902G>A Copied from the Exome Variant Server ATRX_000166 14/10558 14/6723 0/3835
1 c.1032C>T r.(=) p.(=) g.76939716G>A Copied from the Exome Variant Server ATRX_000165 2/10558 1/6723 1/3835
1 c.1033G>A r.(?) p.(Ala345Thr) g.76939715C>T Copied from the Exome Variant Server ATRX_000164 5/10558 5/6723 0/3835
1 c.1110T>C r.(=) p.(=) g.76939638A>G Copied from the Exome Variant Server ATRX_000163 1/10556 1/6721 0/3835
1 c.1154C>T r.(?) p.(Ser385Phe) g.76939594G>A Copied from the Exome Variant Server ATRX_000162 1/10558 1/6723 0/3835
1 c.1168C>T r.(?) p.(Arg390Cys) g.76939580G>A Copied from the Exome Variant Server ATRX_000161 1/10558 0/6723 1/3835
1 c.1169G>A r.(?) p.(Arg390His) g.76939579C>T Copied from the Exome Variant Server ATRX_000160 1/10558 1/6723 0/3835
1 c.1245C>T r.(=) p.(=) g.76939503G>A Copied from the Exome Variant Server ATRX_000159 1/10558 1/6723 0/3835
1 c.1256C>T r.(?) p.(Ala419Val) g.76939492G>A Copied from the Exome Variant Server ATRX_000158 1/10558 1/6723 0/3835
1 c.1303A>G r.(?) p.(Ile435Val) g.76939445T>C Copied from the Exome Variant Server ATRX_000157 2/10558 2/6723 0/3835
1 c.1386T>C r.(=) p.(=) g.76939362A>G Copied from the Exome Variant Server ATRX_000156 1/10558 0/6723 1/3835
1 c.1423C>G r.(?) p.(His475Asp) g.76939325G>C Copied from the Exome Variant Server ATRX_000155 5/10558 0/6723 5/3835
1 c.1566C>G r.(=) p.(=) g.76939182G>C Copied from the Exome Variant Server ATRX_000154 1/10558 0/6723 1/3835
1 c.1617G>A r.(=) p.(=) g.76939131C>T Copied from the Exome Variant Server ATRX_000153 1/10555 1/6720 0/3835
1 c.1633C>G r.(?) p.(Gln545Glu) g.76939115G>C Copied from the Exome Variant Server ATRX_000152 67/10554 0/6719 67/3835
1 c.1645A>G r.(?) p.(Ser549Gly) g.76939103T>C Copied from the Exome Variant Server ATRX_000151 1/10554 1/6719 0/3835
1 c.1648A>G r.(?) p.(Ser550Gly) g.76939100T>C Copied from the Exome Variant Server ATRX_000150 1/10554 1/6719 0/3835
1 c.1671G>T r.(?) p.(Glu557Asp) g.76939077C>A Copied from the Exome Variant Server ATRX_000149 1/10553 1/6718 0/3835
1 c.1798A>G r.(?) p.(Ile600Val) g.76938950T>C Copied from the Exome Variant Server ATRX_000148 1/10558 0/6723 1/3835
1 c.1880G>A r.(?) p.(Cys627Tyr) g.76938868C>T Copied from the Exome Variant Server ATRX_000147 1/10557 1/6722 0/3835
1 c.1911G>C r.(?) p.(Glu637Asp) g.76938837C>G Copied from the Exome Variant Server ATRX_000146 1/10556 1/6721 0/3835
1 c.2001G>A r.(=) p.(=) g.76938747C>T Copied from the Exome Variant Server ATRX_000145 1/10553 1/6718 0/3835
1 c.2122A>G r.(?) p.(Ile708Val) g.76938626T>C Copied from the Exome Variant Server ATRX_000144 1/10557 1/6722 0/3835
1 c.2150C>T r.(?) p.(Pro717Leu) g.76938598G>A Copied from the Exome Variant Server ATRX_000143 1/10557 0/6722 1/3835
1 c.2169G>C r.(?) p.(Glu723Asp) g.76938579C>G Copied from the Exome Variant Server ATRX_000142 2/10558 1/6723 1/3835
1 c.2224A>G r.(?) p.(Ser742Gly) g.76938524T>C Copied from the Exome Variant Server ATRX_000141 1/10558 1/6723 0/3835
1 c.2247_2249del r.(?) p.(Ser750del) g.76938499_76938501del Copied from the Exome Variant Server ATRX_000140 2/10186 2/6467 0/3719
1 c.2312C>T r.(?) p.(Ala771Val) g.76938436G>A Copied from the Exome Variant Server ATRX_000139 1/10554 0/6719 1/3835
1 c.2313G>A r.(=) p.(=) g.76938435C>T Copied from the Exome Variant Server ATRX_000138 1/10554 1/6719 0/3835
1 c.2461_2466del r.(?) p.(Leu821_Glu822del) g.76938282_76938287del Copied from the Exome Variant Server ATRX_000137 3/10176 1/6455 2/3721
1 c.2530A>G r.(?) p.(Thr844Ala) g.76938218T>C Copied from the Exome Variant Server ATRX_000136 1/10556 0/6721 1/3835
1 c.2531C>A r.(?) p.(Thr844Lys) g.76938217G>T Copied from the Exome Variant Server ATRX_000135 4/10556 0/6721 4/3835
1 c.2595C>G r.(?) p.(His865Gln) g.76938153G>C Copied from the Exome Variant Server ATRX_000134 100/10556 97/6721 3/3835
1 c.2623T>C r.(?) p.(Ser875Pro) g.76938125A>G Copied from the Exome Variant Server ATRX_000133 1/10558 1/6723 0/3835
1 c.2650G>A r.(?) p.(Glu884Lys) g.76938098C>T Copied from the Exome Variant Server ATRX_000132 1/10558 1/6723 0/3835
1 c.2658G>C r.(?) p.(Glu886Asp) g.76938090C>G Copied from the Exome Variant Server ATRX_000131 1/10558 1/6723 0/3835
1 c.2680A>C r.(?) p.(Thr894Pro) g.76938068T>G Copied from the Exome Variant Server ATRX_000130 3/10558 0/6723 3/3835
1 c.2720G>A r.(?) p.(Arg907Gln) g.76938028C>T Copied from the Exome Variant Server ATRX_000129 3/10558 3/6723 0/3835
1 c.2764G>A r.(?) p.(Asp922Asn) g.76937984C>T Copied from the Exome Variant Server ATRX_000128 1/10558 0/6723 1/3835
1 c.2775T>C r.(=) p.(=) g.76937973A>G Copied from the Exome Variant Server ATRX_000127 1/10558 1/6723 0/3835
1 c.2785C>G r.(?) p.(Gln929Glu) g.76937963G>C Copied from the Exome Variant Server ATRX_000126 5367/10558 2057/6723 3310/3835
1 c.2815G>C r.(?) p.(Val939Leu) g.76937933C>G Copied from the Exome Variant Server ATRX_000125 1/10558 1/6723 0/3835
1 c.2866_2868del r.(?) p.(Lys956del) g.76937880_76937882del Copied from the Exome Variant Server ATRX_000124 1/10197 1/6476 0/3721
1 c.2898G>T r.(?) p.(Glu966Asp) g.76937850C>A Copied from the Exome Variant Server ATRX_000123 1/10558 1/6723 0/3835
1 c.2923G>A r.(?) p.(Asp975Asn) g.76937825C>T Copied from the Exome Variant Server ATRX_000122 1/10558 1/6723 0/3835
1 c.2935G>C r.(?) p.(Glu979Gln) g.76937813C>G Copied from the Exome Variant Server ATRX_000121 1/10558 1/6723 0/3835
1 c.2968G>A r.(?) p.(Glu990Lys) g.76937780C>T Copied from the Exome Variant Server ATRX_000120 2/10556 0/6723 2/3833
1 c.2979G>T r.(?) p.(Lys993Asn) g.76937769C>A Copied from the Exome Variant Server ATRX_000119 1/10549 0/6716 1/3833
1 c.3042T>C r.(=) p.(=) g.76937706A>G Copied from the Exome Variant Server ATRX_000118 1/10521 1/6705 0/3816
1 c.3067G>C r.(?) p.(Glu1023Gln) g.76937681C>G Copied from the Exome Variant Server ATRX_000117 1/10528 1/6709 0/3819
1 c.3158C>A r.(?) p.(Thr1053Asn) g.76937590G>T Copied from the Exome Variant Server ATRX_000116 1/10538 0/6703 1/3835
1 c.3179T>G r.(?) p.(Leu1060*) g.76937569A>C Copied from the Exome Variant Server ATRX_000115 1/10545 0/6710 1/3835
1 c.3211G>A r.(?) p.(Gly1071Arg) g.76937537C>T Copied from the Exome Variant Server ATRX_000114 1/10552 1/6717 0/3835
1 c.3222T>G r.(?) p.(Cys1074Trp) g.76937526A>C Copied from the Exome Variant Server ATRX_000113 1/10549 0/6714 1/3835
1 c.3281G>A r.(?) p.(Cys1094Tyr) g.76937467C>T Copied from the Exome Variant Server ATRX_000112 3/10547 3/6712 0/3835
1 c.3437C>G r.(?) p.(Thr1146Ser) g.76937311G>C Copied from the Exome Variant Server ATRX_000111 1/10557 1/6722 0/3835
1 c.3527A>T r.(?) p.(Lys1176Met) g.76937221T>A Copied from the Exome Variant Server ATRX_000110 1/10558 1/6723 0/3835
1 c.3541G>C r.(?) p.(Val1181Leu) g.76937207C>G Copied from the Exome Variant Server ATRX_000109 18/10558 16/6723 2/3835
1 c.3624A>G r.(?) p.(Ile1208Met) g.76937124T>C Copied from the Exome Variant Server ATRX_000108 1/10558 1/6723 0/3835
1 c.3638A>C r.(?) p.(Gln1213Pro) g.76937110T>G Copied from the Exome Variant Server ATRX_000107 1/10558 1/6723 0/3835
1 c.3641A>T r.(?) p.(Asn1214Ile) g.76937107T>A Copied from the Exome Variant Server ATRX_000106 6/10558 0/6723 6/3835
1 c.3687G>A r.(=) p.(=) g.76937061C>T Copied from the Exome Variant Server ATRX_000105 1/10558 1/6723 0/3835
1 c.3736+35A>G r.(=) p.(=) g.76936977T>C Copied from the Exome Variant Server ATRX_000104 2/10539 0/6710 2/3829
1 c.3737-48T>G r.(=) p.(=) g.76931841A>C Copied from the Exome Variant Server ATRX_000103 1/10555 1/6720 0/3835
1 c.3737-22A>C r.(=) p.(=) g.76931815T>G Copied from the Exome Variant Server ATRX_000102 3/10558 3/6723 0/3835
1 c.3737-6C>T r.(=) p.(=) g.76931799G>A Copied from the Exome Variant Server ATRX_000101 1/10558 0/6723 1/3835
1 c.3794A>G r.(?) p.(Asn1265Ser) g.76931736T>C Copied from the Exome Variant Server ATRX_000100 1/10558 1/6723 0/3835
1 c.3801T>C r.(=) p.(=) g.76931729A>G Copied from the Exome Variant Server ATRX_000099 1/10558 1/6723 0/3835
1 c.3809+52T>C r.(=) p.(=) g.76931669A>G Copied from the Exome Variant Server ATRX_000098 1/8125 1/5498 0/2627
1 c.3809+60A>C r.(=) p.(=) g.76931661T>G Copied from the Exome Variant Server ATRX_000097 15/3600 0/2391 15/1209
1 c.3810-20_3810-19insT r.(=) p.(=) g.76920286_76920287insA Copied from the Exome Variant Server ATRX_000095 4/10182 3/6469 1/3713
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