Unique variants in gene RPS6KA6

Information The variants shown are described using the NM_014496.4 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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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.-23G>C r.(=) p.(=) g.83442930C>G Copied from the Exome Variant Server RPS6KA6_000093 2/10554 0/6724 2/3830
1 c.-12C>T r.(=) p.(=) g.83442919G>A Copied from the Exome Variant Server RPS6KA6_000092 1/10557 1/6726 0/3831
1 c.12C>T r.(=) p.(=) g.83442896G>A Copied from the Exome Variant Server RPS6KA6_000091 1/10561 0/6728 1/3833
1 c.37C>T r.(?) p.(Arg13*) g.83442871G>A Copied from the Exome Variant Server RPS6KA6_000090 4/10560 0/6727 4/3833
1 c.40G>T r.(?) p.(Glu14*) g.83442868C>A Copied from the Exome Variant Server RPS6KA6_000089 1/10561 1/6728 0/3833
1 c.81+30C>T r.(=) p.(=) g.83442797G>A Copied from the Exome Variant Server RPS6KA6_000088 1/10557 1/6725 0/3832
1 c.81+34C>T r.(=) p.(=) g.83442793G>A Copied from the Exome Variant Server RPS6KA6_000087 20/10552 1/6722 19/3830
1 c.81+54A>C r.(=) p.(=) g.83442773T>G Copied from the Exome Variant Server RPS6KA6_000086 44/3591 42/2383 2/1208
1 c.82-23A>G r.(=) p.(=) g.83419418T>C Copied from the Exome Variant Server RPS6KA6_000085 1/10553 1/6718 0/3835
1 c.118G>A r.(?) p.(Glu40Lys) g.83419359C>T Copied from the Exome Variant Server RPS6KA6_000083 1/10559 0/6724 1/3835
1 c.122G>A r.(?) p.(Gly41Glu) g.83419355C>T Copied from the Exome Variant Server RPS6KA6_000081 1/10559 0/6724 1/3835
1 c.141+11A>G r.(=) p.(=) g.83419325T>C Copied from the Exome Variant Server RPS6KA6_000078 1/10554 0/6721 1/3833
1 c.141+9_141+12del r.(=) p.(=) g.83419324_83419327del Copied from the Exome Variant Server RPS6KA6_000076 40/10196 32/6477 8/3719
1 c.141+43T>C r.(=) p.(=) g.83419293A>G Copied from the Exome Variant Server RPS6KA6_000074 1/10550 0/6717 1/3833
1 c.169A>G r.(?) p.(Ile57Val) g.83411172T>C Copied from the Exome Variant Server RPS6KA6_000072 1/10563 1/6728 0/3835
1 c.228C>G r.(=) p.(=) g.83411113G>C Copied from the Exome Variant Server RPS6KA6_000070 1/10563 0/6728 1/3835
1 c.258+5T>C r.spl? p.? g.83411078A>G Copied from the Exome Variant Server RPS6KA6_000068 1/10563 0/6728 1/3835
1 c.259-47C>G r.(=) p.(=) g.83403178G>C Copied from the Exome Variant Server RPS6KA6_000066 5779/10373 4707/6641 1072/3732
1 c.259-19_259-18insTT r.(=) p.(=) g.83403149_83403150insAA Copied from the Exome Variant Server RPS6KA6_000084 141/10002 86/6388 55/3614
1 c.259-18del r.(=) p.(=) g.83403149del Copied from the Exome Variant Server RPS6KA6_000080 1227/10002 848/6388 379/3614
1 c.259-18dup r.(=) p.(=) g.83403149dup Copied from the Exome Variant Server RPS6KA6_000079 699/10002 479/6388 220/3614
1 c.259-18T>C r.(=) p.(=) g.83403149A>G Copied from the Exome Variant Server RPS6KA6_000082 6/10474 0/6674 6/3800
1 c.341-31G>A r.(=) p.(=) g.83402097C>T Copied from the Exome Variant Server RPS6KA6_000077 1/10551 1/6717 0/3834
1 c.341-16T>C r.(=) p.(=) g.83402082A>G Copied from the Exome Variant Server RPS6KA6_000075 1/10555 1/6722 0/3833
1 c.357G>T r.(=) p.(=) g.83402050C>A Copied from the Exome Variant Server RPS6KA6_000073 1/10559 0/6724 1/3835
1 c.421+10C>A r.(=) p.(=) g.83401976G>T Copied from the Exome Variant Server RPS6KA6_000071 32/10555 0/6720 32/3835
1 c.421+21_421+23del r.(=) p.(=) g.83401963_83401965del Copied from the Exome Variant Server RPS6KA6_000069 38/10186 25/6472 13/3714
1 c.421+45_421+48del r.(=) p.(=) g.83401938_83401941del Copied from the Exome Variant Server RPS6KA6_000067 13/9464 7/6039 6/3425
1 c.475G>A r.(?) p.(Asp159Asn) g.83400512C>T Copied from the Exome Variant Server RPS6KA6_000065 1/10556 1/6721 0/3835
1 c.486A>T r.(=) p.(=) g.83400501T>A Copied from the Exome Variant Server RPS6KA6_000064 2/10557 2/6722 0/3835
1 c.537C>T r.(=) p.(=) g.83390183G>A Copied from the Exome Variant Server RPS6KA6_000063 14/10559 13/6726 1/3833
1 c.544C>T r.(=) p.(=) g.83390176G>A Copied from the Exome Variant Server RPS6KA6_000062 1/10559 0/6726 1/3833
1 c.609-82_609-79del r.(=) p.(=) g.83389906_83389909del Copied from the Exome Variant Server RPS6KA6_000061 2/9586 2/6167 0/3419
1 c.646+6C>T r.(=) p.(=) g.83389784G>A Copied from the Exome Variant Server RPS6KA6_000060 1/10430 1/6636 0/3794
1 c.781_789+2del r.spl? p.? g.83374891_83374901del Copied from the Exome Variant Server RPS6KA6_000059 14/10204 11/6483 3/3721
1 c.790-25_790-24insT r.(=) p.(=) g.83372486_83372487insA Copied from the Exome Variant Server RPS6KA6_000057 31/10185 25/6470 6/3715
1 c.790-16_790-12del r.(=) p.(=) g.83372474_83372478del Copied from the Exome Variant Server RPS6KA6_000054 9/10190 4/6474 5/3716
1 c.847A>C r.(?) p.(Asn283His) g.83372405T>G Copied from the Exome Variant Server RPS6KA6_000053 1/10548 0/6720 1/3828
1 c.861-39C>T r.(=) p.(=) g.83372195G>A Copied from the Exome Variant Server RPS6KA6_000050 1/10505 1/6705 0/3800
1 c.898G>A r.(?) p.(Ala300Thr) g.83372119C>T Copied from the Exome Variant Server RPS6KA6_000048 1/10555 1/6724 0/3831
1 c.946T>C r.(=) p.(=) g.83372071A>G Copied from the Exome Variant Server RPS6KA6_000046 1/10556 1/6725 0/3831
1 c.1008+15A>C r.(=) p.(=) g.83371222T>G Copied from the Exome Variant Server RPS6KA6_000044 404/10546 346/6713 58/3833
1 c.1008+36del r.(=) p.(=) g.83371201del Copied from the Exome Variant Server RPS6KA6_000042 1/10176 1/6457 0/3719
1 c.1009-30C>T r.(=) p.(=) g.83362763G>A Copied from the Exome Variant Server RPS6KA6_000058 1/10532 0/6710 1/3822
1 c.1009-29G>A r.(=) p.(=) g.83362762C>T Copied from the Exome Variant Server RPS6KA6_000056 2/10538 0/6714 2/3824
1 c.1009-3_1009-2insT r.spl? p.? g.83362735_83362736insA Copied from the Exome Variant Server RPS6KA6_000055 2/10193 2/6472 0/3721
1 c.1111+30A>C r.(=) p.(=) g.83362601T>G Copied from the Exome Variant Server RPS6KA6_000052 1/10533 1/6708 0/3825
1 c.1112-28T>C r.(=) p.(=) g.83362076A>G Copied from the Exome Variant Server RPS6KA6_000051 1/10542 1/6717 0/3825
1 c.1119C>T r.(=) p.(=) g.83362041G>A Copied from the Exome Variant Server RPS6KA6_000049 2/10561 1/6726 1/3835
1 c.1196A>G r.(?) p.(Tyr399Cys) g.83361964T>C Copied from the Exome Variant Server RPS6KA6_000047 1/10562 1/6727 0/3835
1 c.1234A>G r.(?) p.(Ile412Val) g.83361926T>C Copied from the Exome Variant Server RPS6KA6_000045 2/10561 0/6728 2/3833
1 c.1365+14G>T r.(=) p.(=) g.83361359C>A Copied from the Exome Variant Server RPS6KA6_000043 1/10563 1/6728 0/3835
1 c.1365+18A>G r.(=) p.(=) g.83361355T>C Copied from the Exome Variant Server RPS6KA6_000041 6/10563 0/6728 6/3835
1 c.1365+24C>G r.(=) p.(=) g.83361349G>C Copied from the Exome Variant Server RPS6KA6_000040 1/10562 1/6727 0/3835
1 c.1366-38G>T r.(=) p.(=) g.83360922C>A Copied from the Exome Variant Server RPS6KA6_000039 19/10537 0/6713 19/3824
1 c.1366-37_1366-34del r.(=) p.(=) g.83360918_83360921del Copied from the Exome Variant Server RPS6KA6_000038 2/10179 0/6469 2/3710
1 c.1366-11G>A r.(=) p.(=) g.83360895C>T Copied from the Exome Variant Server RPS6KA6_000037 3/10551 3/6720 0/3831
1 c.1402A>G r.(?) p.(Ile468Val) g.83360848T>C Copied from the Exome Variant Server RPS6KA6_000036 1/10558 1/6723 0/3835
1 c.1455T>C r.(=) p.(=) g.83360795A>G Copied from the Exome Variant Server RPS6KA6_000035 2/10557 0/6722 2/3835
1 c.1456-33A>G r.(=) p.(=) g.83359698T>C Copied from the Exome Variant Server RPS6KA6_000034 4/10353 3/6612 1/3741
1 c.1497A>G r.(=) p.(=) g.83359624T>C Copied from the Exome Variant Server RPS6KA6_000033 1/10558 1/6725 0/3833
1 c.1557G>A r.(=) p.(=) g.83359564C>T Copied from the Exome Variant Server RPS6KA6_000032 2/10559 2/6726 0/3833
1 c.1569A>G r.(?) p.(Ile523Met) g.83359552T>C Copied from the Exome Variant Server RPS6KA6_000031 1/10559 1/6726 0/3833
1 c.1615-32T>C r.(=) p.(=) g.83357238A>G Copied from the Exome Variant Server RPS6KA6_000030 1/10120 0/6490 1/3630
1 c.1675G>A r.(?) p.(Asp559Asn) g.83357146C>T Copied from the Exome Variant Server RPS6KA6_000029 1/10557 0/6727 1/3830
1 c.1677T>C r.(=) p.(=) g.83357144A>G Copied from the Exome Variant Server RPS6KA6_000028 1/10557 1/6727 0/3830
1 c.1777-34G>T r.(=) p.(=) g.83352890C>A Copied from the Exome Variant Server RPS6KA6_000027 139/10553 8/6718 131/3835
1 c.1853+10A>G r.(=) p.(=) g.83352770T>C Copied from the Exome Variant Server RPS6KA6_000026 2/10554 0/6719 2/3835
1 c.1853+13T>C r.(=) p.(=) g.83352767A>G Copied from the Exome Variant Server RPS6KA6_000025 139/10555 8/6720 131/3835
1 c.1952A>G r.(?) p.(Asn651Ser) g.83351221T>C Copied from the Exome Variant Server RPS6KA6_000024 1/10563 1/6728 0/3835
1 c.1962C>T r.(=) p.(=) g.83351211G>A Copied from the Exome Variant Server RPS6KA6_000023 1/10563 0/6728 1/3835
1 c.1971+29C>T r.(=) p.(=) g.83351173G>A Copied from the Exome Variant Server RPS6KA6_000022 1/10562 0/6727 1/3835
1 c.1972-16A>C r.(=) p.(=) g.83320135T>G Copied from the Exome Variant Server RPS6KA6_000021 1/10563 1/6728 0/3835
1 c.1972-8del r.(=) p.(=) g.83320127del Copied from the Exome Variant Server RPS6KA6_000019 10/10205 8/6484 2/3721
1 c.1972-8T>A r.(=) p.(=) g.83320127A>T Copied from the Exome Variant Server RPS6KA6_000020 2/10563 0/6728 2/3835
1 c.1985A>G r.(?) p.(His662Arg) g.83320106T>C Copied from the Exome Variant Server RPS6KA6_000018 8/10563 8/6728 0/3835
1 c.2015A>G r.(?) p.(Tyr672Cys) g.83320076T>C Copied from the Exome Variant Server RPS6KA6_000017 1/10563 1/6728 0/3835
1 c.2074G>A r.(?) p.(Asp692Asn) g.83320017C>T Copied from the Exome Variant Server RPS6KA6_000016 546/10563 355/6728 191/3835
1 c.2112+10A>G r.(=) p.(=) g.83319969T>C Copied from the Exome Variant Server RPS6KA6_000015 2/10563 0/6728 2/3835
1 c.2112+22G>T r.(=) p.(=) g.83319957C>A Copied from the Exome Variant Server RPS6KA6_000014 1/10563 1/6728 0/3835
1 c.2112+29C>T r.(=) p.(=) g.83319950G>A Copied from the Exome Variant Server RPS6KA6_000013 1/10563 1/6728 0/3835
1 c.2112+30G>A r.(=) p.(=) g.83319949C>T Copied from the Exome Variant Server RPS6KA6_000012 5/10563 0/6728 5/3835
1 c.2113-49del r.(=) p.(=) g.83319459del Copied from the Exome Variant Server RPS6KA6_000011 3307/10187 2262/6466 1045/3721
1 c.2113-49dup r.(=) p.(=) g.83319459dup Copied from the Exome Variant Server RPS6KA6_000010 1411/10187 868/6466 543/3721
1 c.2113-49_2113-48del r.(=) p.(=) g.83319458_83319459del Copied from the Exome Variant Server RPS6KA6_000009 187/10187 122/6466 65/3721
1 c.2113-40G>C r.(=) p.(=) g.83319450C>G Copied from the Exome Variant Server RPS6KA6_000008 1/10562 0/6727 1/3835
1 c.2113-7A>C r.(=) p.(=) g.83319417T>G Copied from the Exome Variant Server RPS6KA6_000007 1/10563 1/6728 0/3835
1 c.2119A>G r.(?) p.(Met707Val) g.83319404T>C Copied from the Exome Variant Server RPS6KA6_000006 5/10563 3/6728 2/3835
1 c.2142G>A r.(=) p.(=) g.83319381C>T Copied from the Exome Variant Server RPS6KA6_000005 2/10563 2/6728 0/3835
1 c.2209A>G r.(?) p.(Met737Val) g.83319314T>C Copied from the Exome Variant Server RPS6KA6_000004 3/10563 3/6728 0/3835
1 c.2218C>T r.(?) p.(Arg740*) g.83319305G>A Copied from the Exome Variant Server RPS6KA6_000003 1/10563 1/6728 0/3835
1 c.2219G>A r.(?) p.(Arg740Gln) g.83319304C>T Copied from the Exome Variant Server RPS6KA6_000002 23/10563 0/6728 23/3835
1 c.*5del r.(=) p.(=) g.83319280del Copied from the Exome Variant Server RPS6KA6_000001 10/10205 7/6484 3/3721
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