Unique variants in gene CASK

Information The variants shown are described using the NM_003688.3 transcript reference sequence.

154 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.-32C>G r.(=) p.(=) g.41782273G>C Copied from the Exome Variant Server CASK_000134 1/10563 1/6728 0/3835
1 c.-6C>T r.(=) p.(=) g.41782247G>A Copied from the Exome Variant Server CASK_000133 2/10563 2/6728 0/3835
1 c.42G>C r.(=) p.(=) g.41782200C>G Copied from the Exome Variant Server CASK_000132 1/10563 0/6728 1/3835
1 c.59+24G>A r.(=) p.(=) g.41782159C>T Copied from the Exome Variant Server CASK_000131 2/10563 0/6728 2/3835
1 c.60-20A>G r.(=) p.(=) g.41712500T>C Copied from the Exome Variant Server CASK_000121 1/10562 1/6727 0/3835
1 c.278+43A>G r.(=) p.(=) g.41646388T>C Copied from the Exome Variant Server CASK_000119 22/10563 2/6728 20/3835
1 c.303T>C r.(=) p.(=) g.41604830A>G Copied from the Exome Variant Server CASK_000130 2/10563 2/6728 0/3835
1 c.356+6T>C r.(=) p.(=) g.41604771A>G Copied from the Exome Variant Server CASK_000129 3/10563 0/6728 3/3835
1 c.356+53_356+55del r.(=) p.(=) g.41604722_41604724del Copied from the Exome Variant Server CASK_000128 2/10203 2/6483 0/3720
1 c.363T>C r.(=) p.(=) g.41598703A>G Copied from the Exome Variant Server CASK_000127 4/10550 3/6715 1/3835
1 c.390C>T r.(=) p.(=) g.41598676G>A Copied from the Exome Variant Server CASK_000126 1/10555 1/6720 0/3835
1 c.399T>C r.(=) p.(=) g.41598667A>G Copied from the Exome Variant Server CASK_000125 1/10555 0/6720 1/3835
1 c.429+20T>A r.(=) p.(=) g.41598617A>T Copied from the Exome Variant Server CASK_000124 3/10550 2/6715 1/3835
1 c.429+37A>G r.(=) p.(=) g.41598600T>C Copied from the Exome Variant Server CASK_000123 1/10547 1/6712 0/3835
1 c.429+11325T>C r.(=) p.(=) g.41587312A>G Copied from the Exome Variant Server CASK_000122 5/9967 0/6441 5/3526
1 c.429+11390A>G r.(?) p.(Leu323Pro) g.41587247T>C Copied from the Exome Variant Server CASK_000120 4/10494 4/6688 0/3806
1 c.429+11419A>G r.(=) p.(=) g.41587218T>C Copied from the Exome Variant Server CASK_000118 8492/10533 5170/6703 3322/3830
1 c.429+11498A>G r.(?) p.(Leu287Ser) g.41587139T>C Copied from the Exome Variant Server CASK_000117 1/10556 0/6721 1/3835
1 c.429+11528T>C r.(?) p.(Gln277Arg) g.41587109A>G Copied from the Exome Variant Server CASK_000116 1/10559 0/6724 1/3835
1 c.429+11589G>A r.(=) p.(=) g.41587048C>T Copied from the Exome Variant Server CASK_000115 9/10563 0/6728 9/3835
1 c.429+11653C>T r.(=) p.(=) g.41586984G>A Copied from the Exome Variant Server CASK_000114 1/10563 0/6728 1/3835
1 c.429+11686A>C r.(?) p.(Phe224Leu) g.41586951T>G Copied from the Exome Variant Server CASK_000113 1/10563 1/6728 0/3835
1 c.429+11804C>T r.(?) p.(Ser185Asn) g.41586833G>A Copied from the Exome Variant Server CASK_000112 64/10563 0/6728 64/3835
1 c.429+11848A>G r.(=) p.(=) g.41586789T>C Copied from the Exome Variant Server CASK_000111 3/10563 3/6728 0/3835
1 c.429+11919G>A r.(?) p.(Arg147Cys) g.41586718C>T Copied from the Exome Variant Server CASK_000110 1/10559 1/6724 0/3835
1 c.429+11959G>A r.(=) p.(=) g.41586678C>T Copied from the Exome Variant Server CASK_000109 2/10563 1/6728 1/3835
1 c.429+12070A>C r.(=) p.(=) g.41586567T>G Copied from the Exome Variant Server CASK_000108 1/10563 0/6728 1/3835
1 c.429+12096A>G r.(?) p.(Cys88Arg) g.41586541T>C Copied from the Exome Variant Server CASK_000107 2/10563 0/6728 2/3835
1 c.429+12117A>G r.(?) p.(Trp81Arg) g.41586520T>C Copied from the Exome Variant Server CASK_000106 1/10563 0/6728 1/3835
1 c.429+12222_429+12223insT r.(?) p.(Thr48Asnfs*88) g.41586414_41586415insA Copied from the Exome Variant Server CASK_000105 1/10205 1/6484 0/3721
1 c.429+12333G>T r.(?) p.(Gln9Lys) g.41586304C>A Copied from the Exome Variant Server CASK_000104 1/10563 1/6728 0/3835
1 c.430-25251C>T r.(=) p.(=) g.41556034G>A Copied from the Exome Variant Server GPR34_000020 1/10544 1/6715 0/3829
1 c.430-25192G>A r.(=) p.(=) g.41555975C>T Copied from the Exome Variant Server GPR34_000019 1/10563 1/6728 0/3835
1 c.430-25171A>G r.(=) p.(=) g.41555954T>C Copied from the Exome Variant Server GPR34_000018 1/10562 0/6727 1/3835
1 c.430-25144T>G r.(?) p.(Gln347His) g.41555927A>C Copied from the Exome Variant Server GPR34_000017 1/10563 0/6728 1/3835
1 c.430-25046G>A r.(?) p.(Leu315Phe) g.41555829C>T Copied from the Exome Variant Server GPR34_000016 1/10561 0/6726 1/3835
1 c.430-24991T>C r.(=) p.(=) g.41555774A>G Copied from the Exome Variant Server GPR34_000015 15/10563 15/6728 0/3835
1 c.430-24987T>C r.(?) p.(Asn295Ser) g.41555770A>G Copied from the Exome Variant Server GPR34_000014 231/10563 0/6728 231/3835
1 c.430-24941C>G r.(?) p.(Val280Leu) g.41555724G>C Copied from the Exome Variant Server GPR34_000013 1/10561 1/6726 0/3835
1 c.430-24894G>A r.(?) p.(Thr264Ile) g.41555677C>T Copied from the Exome Variant Server GPR34_000012 6/10563 0/6728 6/3835
1 c.430-24888G>C r.(?) p.(Ala262Gly) g.41555671C>G Copied from the Exome Variant Server GPR34_000011 1/10563 1/6728 0/3835
1 c.430-24886A>G r.(=) p.(=) g.41555669T>C Copied from the Exome Variant Server GPR34_000010 1/10563 1/6728 0/3835
1 c.430-24831T>C r.(?) p.(Lys243Arg) g.41555614A>G Copied from the Exome Variant Server GPR34_000009 1/10558 1/6724 0/3834
1 c.430-24775C>T r.(=) p.(=) g.41555558G>A Copied from the Exome Variant Server GPR34_000008 1/10561 0/6726 1/3835
1 c.430-24523A>G r.(=) p.(=) g.41555306T>C Copied from the Exome Variant Server GPR34_000007 1/10563 1/6728 0/3835
1 c.430-24467G>A r.(=) p.(=) g.41555250C>T Copied from the Exome Variant Server GPR34_000006 1/10563 1/6728 0/3835
1 c.430-24327G>A r.(?) p.(Ala75Val) g.41555110C>T Copied from the Exome Variant Server GPR34_000005 1/10563 1/6728 0/3835
1 c.430-24174C>T r.(?) p.(Arg24His) g.41554957G>A Copied from the Exome Variant Server GPR34_000004 4/10563 0/6728 4/3835
1 c.430-24150del r.(?) p.(Trp16Cysfs*11) g.41554933del Copied from the Exome Variant Server GPR34_000003 1/10205 1/6484 0/3721
1 c.430-24102G>T r.(=) p.(=) g.41554885C>A Copied from the Exome Variant Server GPR34_000002 1/10563 1/6728 0/3835
1 c.430-24055C>T r.(=) p.(=) g.41554838G>A Copied from the Exome Variant Server GPR34_000001 1/10563 0/6728 1/3835
1 c.430-27_430-24del r.(=) p.(=) g.41530807_41530810del Copied from the Exome Variant Server CASK_000103 110/10205 7/6484 103/3721
1 c.430-27_430-20del r.(=) p.(=) g.41530803_41530810del Copied from the Exome Variant Server CASK_000102 2/10205 1/6484 1/3721
1 c.430-18G>A r.(=) p.(=) g.41530801C>T Copied from the Exome Variant Server CASK_000101 3/10563 0/6728 3/3835
1 c.533-37A>G r.(=) p.(=) g.41524742T>C Copied from the Exome Variant Server CASK_000100 1/10552 1/6721 0/3831
1 c.600A>G r.(=) p.(=) g.41524638T>C Copied from the Exome Variant Server CASK_000099 2/10563 0/6728 2/3835
1 c.709-27_709-26del r.(=) p.(=) g.41519840_41519841del Copied from the Exome Variant Server CASK_000098 1/10205 0/6484 1/3721
1 c.798T>G r.(=) p.(=) g.41519725A>C Copied from the Exome Variant Server CASK_000097 1/10563 0/6728 1/3835
1 c.831+39T>C r.(=) p.(=) g.41519653A>G Copied from the Exome Variant Server CASK_000096 1/10562 1/6727 0/3835
1 c.832-29A>G r.(=) p.(=) g.41495943T>C Copied from the Exome Variant Server CASK_000095 1/10563 0/6728 1/3835
1 c.832-11A>G r.(=) p.(=) g.41495925T>C Copied from the Exome Variant Server CASK_000094 1/10563 1/6728 0/3835
1 c.915+30_915+33del r.(=) p.(=) g.41495798_41495801del Copied from the Exome Variant Server CASK_000093 22/10205 14/6484 8/3721
1 c.916-49T>C r.(=) p.(=) g.41486005A>G Copied from the Exome Variant Server CASK_000092 1/10488 1/6693 0/3795
1 c.916-15A>G r.(=) p.(=) g.41485971T>C Copied from the Exome Variant Server CASK_000091 2/10563 2/6728 0/3835
1 c.1015+12A>G r.(=) p.(=) g.41485845T>C Copied from the Exome Variant Server CASK_000090 1/10562 0/6728 1/3834
1 c.1015+44A>G r.(=) p.(=) g.41485813T>C Copied from the Exome Variant Server CASK_000089 1/10560 0/6726 1/3834
1 c.1016-1601T>C r.(=) p.(=) g.41483488A>G Copied from the Exome Variant Server CASK_000088 1/4492 1/3088 0/1404
1 c.1016-22C>G r.(=) p.(=) g.41481909G>C Copied from the Exome Variant Server CASK_000087 3/10556 3/6722 0/3834
1 c.1021C>G r.(?) p.(Leu341Val) g.41481882G>C Copied from the Exome Variant Server CASK_000086 1/10559 1/6724 0/3835
1 c.1033+23T>G r.(=) p.(=) g.41481847A>C Copied from the Exome Variant Server CASK_000085 5/10556 3/6723 2/3833
1 c.1034-6C>T r.(=) p.(=) g.41469284G>A Copied from the Exome Variant Server CASK_000084 1143/10563 5/6728 1138/3835
1 c.1077G>A r.(=) p.(=) g.41469235C>T Copied from the Exome Variant Server CASK_000083 17/10563 14/6728 3/3835
1 c.1125C>T r.(=) p.(=) g.41469187G>A Copied from the Exome Variant Server CASK_000082 55/10563 0/6728 55/3835
1 c.1155+36G>T r.(=) p.(=) g.41469121C>A Copied from the Exome Variant Server CASK_000081 35/10563 0/6728 35/3835
1 c.1155+51C>T r.(=) p.(=) g.41469106G>A Copied from the Exome Variant Server CASK_000080 1/10563 1/6728 0/3835
1 c.1156-27T>C r.(=) p.(=) g.41448872A>G Copied from the Exome Variant Server CASK_000079 14/10563 0/6728 14/3835
1 c.1186C>T r.(?) p.(Pro396Ser) g.41448815G>A Copied from the Exome Variant Server CASK_000078 3/10563 0/6728 3/3835
1 c.1233+17A>C r.(=) p.(=) g.41448751T>G Copied from the Exome Variant Server CASK_000077 1/10560 1/6728 0/3832
1 c.1233+18T>C r.(=) p.(=) g.41448750A>G Copied from the Exome Variant Server CASK_000076 23/10560 0/6728 23/3832
1 c.1233+44G>A r.(=) p.(=) g.41448724C>T Copied from the Exome Variant Server CASK_000075 1/10560 1/6728 0/3832
1 c.1233+49C>G r.(=) p.(=) g.41448719G>C Copied from the Exome Variant Server CASK_000074 7/10561 7/6727 0/3834
1 c.1234-30G>A r.(=) p.(=) g.41446270C>T Copied from the Exome Variant Server CASK_000073 259/10543 0/6715 259/3828
1 c.1234-22G>A r.(=) p.(=) g.41446262C>T Copied from the Exome Variant Server CASK_000072 258/10546 0/6715 258/3831
1 c.1234-20A>G r.(=) p.(=) g.41446260T>C Copied from the Exome Variant Server CASK_000071 1/10552 0/6721 1/3831
1 c.1288C>T r.(?) p.(Arg430Cys) g.41446186G>A Copied from the Exome Variant Server CASK_000070 1/10560 1/6727 0/3833
1 c.1289G>A r.(?) p.(Arg430His) g.41446185C>T Copied from the Exome Variant Server CASK_000069 4/10560 0/6727 4/3833
1 c.1312A>C r.(?) p.(Met438Leu) g.41446162T>G Copied from the Exome Variant Server CASK_000068 2/10560 1/6727 1/3833
1 c.1314+18T>C r.(=) p.(=) g.41446142A>G Copied from the Exome Variant Server CASK_000067 25/10556 24/6723 1/3833
1 c.1315-34G>A r.(=) p.(=) g.41437815C>T Copied from the Exome Variant Server CASK_000066 8/10560 0/6726 8/3834
1 c.1315-10A>G r.(=) p.(=) g.41437791T>C Copied from the Exome Variant Server CASK_000065 2/10563 2/6728 0/3835
1 c.1369T>C r.(=) p.(=) g.41437727A>G Copied from the Exome Variant Server CASK_000064 1/10563 0/6728 1/3835
1 c.1392C>T r.(=) p.(=) g.41437704G>A Copied from the Exome Variant Server CASK_000063 4/10563 4/6728 0/3835
1 c.1421A>C r.(?) p.(Glu474Ala) g.41437675T>G Copied from the Exome Variant Server CASK_000062 1/10563 1/6728 0/3835
1 c.1431C>T r.(=) p.(=) g.41437665G>A Copied from the Exome Variant Server CASK_000061 1/10563 1/6728 0/3835
1 c.1503+15A>G r.(=) p.(=) g.41437578T>C Copied from the Exome Variant Server CASK_000060 1/10563 0/6728 1/3835
1 c.1503+24A>G r.(=) p.(=) g.41437569T>C Copied from the Exome Variant Server CASK_000059 1/10563 0/6728 1/3835
1 c.1503+35A>G r.(=) p.(=) g.41437558T>C Copied from the Exome Variant Server CASK_000058 1/10563 0/6728 1/3835
1 c.1503+37G>A r.(=) p.(=) g.41437556C>T Copied from the Exome Variant Server CASK_000057 83/10563 0/6728 83/3835
1 c.1504-41T>C r.(=) p.(=) g.41429040A>G Copied from the Exome Variant Server CASK_000056 1/10541 0/6715 1/3826
1 c.1504-36C>A r.(=) p.(=) g.41429035G>T Copied from the Exome Variant Server CASK_000055 1/10547 1/6716 0/3831
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