All transcript variants in gene DAG1

Information The variants shown are described using the NM_001165928.3 transcript reference sequence.

124 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     
?/? c.-35G>T r.(=) p.(=) g.49547933G>T Copied from the Exome Variant Server DAG1_000001 1/13006 1/8600 0/4406
?/? c.-34C>T r.(=) p.(=) g.49547934C>T Copied from the Exome Variant Server DAG1_000002 3/13006 0/8600 3/4406
?/? c.35C>G r.(?) p.(Pro12Arg) g.49548002C>G Copied from the Exome Variant Server DAG1_000003 1/13006 1/8600 0/4406
?/? c.41C>G r.(?) p.(Ser14Trp) g.49548008C>G Copied from the Exome Variant Server DAG1_000004 12655/13006 8596/8600 4059/4406
?/? c.93G>T r.(?) p.(Trp31Cys) g.49548060G>T Copied from the Exome Variant Server DAG1_000005 1/13006 1/8600 0/4406
?/? c.107C>T r.(?) p.(Ser36Leu) g.49548074C>T Copied from the Exome Variant Server DAG1_000006 1/13006 0/8600 1/4406
?/? c.162C>T r.(=) p.(=) g.49548129C>T Copied from the Exome Variant Server DAG1_000007 1/13006 1/8600 0/4406
?/? c.185C>T r.(?) p.(Pro62Leu) g.49548152C>T Copied from the Exome Variant Server DAG1_000008 1/13006 1/8600 0/4406
?/? c.186C>T r.(=) p.(=) g.49548153C>T Copied from the Exome Variant Server DAG1_000009 1/13006 0/8600 1/4406
?/? c.212C>A r.(?) p.(Thr71Lys) g.49548179C>A Copied from the Exome Variant Server DAG1_000010 1/13006 1/8600 0/4406
?/? c.213G>A r.(=) p.(=) g.49548180G>A Copied from the Exome Variant Server DAG1_000011 1/13006 1/8600 0/4406
?/? c.216T>C r.(=) p.(=) g.49548183T>C Copied from the Exome Variant Server DAG1_000012 1/13006 0/8600 1/4406
?/? c.219C>T r.(=) p.(=) g.49548186C>T Copied from the Exome Variant Server DAG1_000013 1/13006 1/8600 0/4406
?/? c.220G>A r.(?) p.(Val74Ile) g.49548187G>A Copied from the Exome Variant Server DAG1_000014 1/13006 0/8600 1/4406
?/? c.222C>T r.(=) p.(=) g.49548189C>T Copied from the Exome Variant Server DAG1_000015 1/13006 1/8600 0/4406
?/? c.236G>A r.(?) p.(Arg79Gln) g.49548203G>A Copied from the Exome Variant Server DAG1_000016 1/13006 0/8600 1/4406
?/? c.244A>G r.(?) p.(Ile82Val) g.49548211A>G Copied from the Exome Variant Server DAG1_000017 2/13006 2/8600 0/4406
?/? c.258G>C r.(?) p.(Leu86Phe) g.49548225G>C Copied from the Exome Variant Server DAG1_000018 44/13006 38/8600 6/4406
?/? c.259A>G r.(?) p.(Ile87Val) g.49548226A>G Copied from the Exome Variant Server DAG1_000019 107/13006 100/8600 7/4406
?/? c.268A>G r.(?) p.(Ser90Gly) g.49548235A>G Copied from the Exome Variant Server DAG1_000020 1/13006 1/8600 0/4406
?/? c.278T>C r.(?) p.(Ile93Thr) g.49548245T>C Copied from the Exome Variant Server DAG1_000021 17/13006 0/8600 17/4406
?/? c.285+26G>T r.(=) p.(=) g.49548278G>T Copied from the Exome Variant Server DAG1_000022 1/13006 0/8600 1/4406
?/? c.285+42T>C r.(=) p.(=) g.49548294T>C Copied from the Exome Variant Server DAG1_000023 12658/13006 8595/8600 4063/4406
?/? c.286-49G>A r.(=) p.(=) g.49568181G>A Copied from the Exome Variant Server DAG1_000024 312/13004 289/8600 23/4404
?/? c.286-10del r.(=) p.(=) g.49568220del Copied from the Exome Variant Server DAG1_000025 2/12520 2/8254 0/4266
?/? c.286-4del r.spl? p.? g.49568226del Copied from the Exome Variant Server DAG1_000026 1/12518 1/8252 0/4266
?/? c.286-1_287del r.spl? p.? g.49568229_49568231del Copied from the Exome Variant Server DAG1_000027 1/12520 1/8254 0/4266
?/? c.349C>T r.(=) p.(=) g.49568293C>T Copied from the Exome Variant Server DAG1_000028 3/13006 3/8600 0/4406
?/? c.384G>T r.(=) p.(=) g.49568328G>T Copied from the Exome Variant Server DAG1_000029 46/13006 0/8600 46/4406
?/? c.402C>T r.(=) p.(=) g.49568346C>T Copied from the Exome Variant Server DAG1_000030 2/13006 0/8600 2/4406
?/? c.409C>T r.(?) p.(Arg137Trp) g.49568353C>T Copied from the Exome Variant Server DAG1_000031 1/13006 0/8600 1/4406
?/? c.471C>T r.(=) p.(=) g.49568415C>T Copied from the Exome Variant Server DAG1_000032 1/13006 1/8600 0/4406
?/? c.473C>G r.(?) p.(Pro158Arg) g.49568417C>G Copied from the Exome Variant Server DAG1_000033 1/13006 1/8600 0/4406
?/? c.510C>T r.(=) p.(=) g.49568454C>T Copied from the Exome Variant Server DAG1_000034 3/13006 2/8600 1/4406
?/? c.559C>T r.(?) p.(Pro187Ser) g.49568503C>T Copied from the Exome Variant Server DAG1_000035 1/13006 1/8600 0/4406
?/? c.599C>G r.(?) p.(Thr200Ser) g.49568543C>G Copied from the Exome Variant Server DAG1_000036 23/13006 22/8600 1/4406
?/? c.607A>T r.(?) p.(Thr203Ser) g.49568551A>T Copied from the Exome Variant Server DAG1_000037 1/13006 1/8600 0/4406
?/? c.613A>G r.(?) p.(Lys205Glu) g.49568557A>G Copied from the Exome Variant Server DAG1_000039 2/13006 0/8600 2/4406
?/? c.634C>A r.(?) p.(His212Asn) g.49568578C>A Copied from the Exome Variant Server DAG1_000041 1/13006 1/8600 0/4406
?/? c.644G>A r.(?) p.(Arg215Gln) g.49568588G>A Copied from the Exome Variant Server DAG1_000043 1/13006 1/8600 0/4406
?/? c.712A>G r.(?) p.(Met238Val) g.49568656A>G Copied from the Exome Variant Server DAG1_000044 1/13006 0/8600 1/4406
?/? c.804G>A r.(=) p.(=) g.49568748G>A Copied from the Exome Variant Server DAG1_000046 1/13006 1/8600 0/4406
?/? c.815C>T r.(?) p.(Pro272Leu) g.49568759C>T Copied from the Exome Variant Server DAG1_000048 1/13006 0/8600 1/4406
?/? c.829G>A r.(?) p.(Val277Ile) g.49568773G>A Copied from the Exome Variant Server DAG1_000050 1/13006 1/8600 0/4406
?/? c.835G>T r.(?) p.(Ala279Ser) g.49568779G>T Copied from the Exome Variant Server DAG1_000052 1/13006 1/8600 0/4406
?/? c.852C>T r.(=) p.(=) g.49568796C>T Copied from the Exome Variant Server DAG1_000055 1/13006 1/8600 0/4406
?/? c.853G>A r.(?) p.(Ala285Thr) g.49568797G>A Copied from the Exome Variant Server DAG1_000038 2/13006 1/8600 1/4406
?/? c.897C>T r.(=) p.(=) g.49568841C>T Copied from the Exome Variant Server DAG1_000040 2/13006 0/8600 2/4406
?/? c.904_906del r.(?) p.(Lys303del) g.49568848_49568850del Copied from the Exome Variant Server DAG1_000042 3/12520 1/8254 2/4266
?/? c.910C>T r.(?) p.(Pro304Ser) g.49568854C>T Copied from the Exome Variant Server DAG1_000045 1/13006 1/8600 0/4406
?/? c.920C>G r.(?) p.(Pro307Arg) g.49568864C>G Copied from the Exome Variant Server DAG1_000047 5/13006 0/8600 5/4406
?/? c.926G>A r.(?) p.(Arg309His) g.49568870G>A Copied from the Exome Variant Server DAG1_000049 1/13006 1/8600 0/4406
?/? c.965C>T r.(?) p.(Thr322Ile) g.49568909C>T Copied from the Exome Variant Server DAG1_000051 1/13004 1/8598 0/4406
?/? c.1022C>T r.(?) p.(Thr341Ile) g.49568966C>T Copied from the Exome Variant Server DAG1_000053 6/13006 5/8600 1/4406
?/? c.1046C>T r.(?) p.(Pro349Leu) g.49568990C>T Copied from the Exome Variant Server DAG1_000054 1/13006 1/8600 0/4406
?/? c.1051A>G r.(?) p.(Thr351Ala) g.49568995A>G Copied from the Exome Variant Server DAG1_000056 1/13006 0/8600 1/4406
?/? c.1062G>A r.(?) p.(Met354Ile) g.49569006G>A Copied from the Exome Variant Server DAG1_000057 1/13006 0/8600 1/4406
?/? c.1101G>A r.(=) p.(=) g.49569045G>A Copied from the Exome Variant Server DAG1_000058 3/13006 0/8600 3/4406
?/? c.1212G>A r.(=) p.(=) g.49569156G>A Copied from the Exome Variant Server DAG1_000059 10/13006 1/8600 9/4406
?/? c.1215G>A r.(?) p.(Met405Ile) g.49569159G>A Copied from the Exome Variant Server DAG1_000060 2/13006 2/8600 0/4406
?/? c.1230T>C r.(=) p.(=) g.49569174T>C Copied from the Exome Variant Server DAG1_000061 1/13006 1/8600 0/4406
?/? c.1233G>A r.(=) p.(=) g.49569177G>A Copied from the Exome Variant Server DAG1_000062 41/13006 37/8600 4/4406
?/? c.1241C>T r.(?) p.(Thr414Ile) g.49569185C>T Copied from the Exome Variant Server DAG1_000063 1/13006 0/8600 1/4406
?/? c.1287A>G r.(=) p.(=) g.49569231A>G Copied from the Exome Variant Server DAG1_000064 2/13006 2/8600 0/4406
?/? c.1307C>T r.(?) p.(Thr436Met) g.49569251C>T Copied from the Exome Variant Server DAG1_000065 2/13006 2/8600 0/4406
?/? c.1308G>A r.(=) p.(=) g.49569252G>A Copied from the Exome Variant Server DAG1_000066 5/13006 4/8600 1/4406
?/? c.1320C>T r.(=) p.(=) g.49569264C>T Copied from the Exome Variant Server DAG1_000067 1/13006 0/8600 1/4406
?/? c.1322_1324del r.(?) p.(Thr446del) g.49569266_49569268del Copied from the Exome Variant Server DAG1_000068 8/12520 4/8254 4/4266
?/? c.1360C>T r.(?) p.(Arg454Trp) g.49569304C>T Copied from the Exome Variant Server DAG1_000069 1/13006 0/8600 1/4406
?/? c.1421C>T r.(?) p.(Ala474Val) g.49569365C>T Copied from the Exome Variant Server DAG1_000070 1/13006 0/8600 1/4406
?/? c.1428G>A r.(=) p.(=) g.49569372G>A Copied from the Exome Variant Server DAG1_000071 1/13006 0/8600 1/4406
?/? c.1436G>A r.(?) p.(Arg479His) g.49569380G>A Copied from the Exome Variant Server DAG1_000072 1/13006 0/8600 1/4406
?/? c.1466G>A r.(?) p.(Arg489His) g.49569410G>A Copied from the Exome Variant Server DAG1_000073 1/13006 0/8600 1/4406
?/? c.1489C>A r.(?) p.(Pro497Thr) g.49569433C>A Copied from the Exome Variant Server DAG1_000074 1/13006 0/8600 1/4406
?/? c.1543G>A r.(?) p.(Glu515Lys) g.49569487G>A Copied from the Exome Variant Server DAG1_000075 1/13006 1/8600 0/4406
?/? c.1611C>T r.(=) p.(=) g.49569555C>T Copied from the Exome Variant Server DAG1_000076 1/13006 1/8600 0/4406
?/? c.1618C>G r.(?) p.(Leu540Val) g.49569562C>G Copied from the Exome Variant Server DAG1_000077 2/13006 0/8600 2/4406
?/? c.1641C>T r.(=) p.(=) g.49569585C>T Copied from the Exome Variant Server DAG1_000078 1/13006 1/8600 0/4406
?/? c.1701C>T r.(=) p.(=) g.49569645C>T Copied from the Exome Variant Server DAG1_000079 55/13006 3/8600 52/4406
?/? c.1704C>T r.(=) p.(=) g.49569648C>T Copied from the Exome Variant Server DAG1_000080 1/13006 1/8600 0/4406
?/? c.1708G>T r.(?) p.(Val570Leu) g.49569652G>T Copied from the Exome Variant Server DAG1_000081 1/13006 1/8600 0/4406
?/? c.1715A>G r.(?) p.(Lys572Arg) g.49569659A>G Copied from the Exome Variant Server DAG1_000082 1/13006 1/8600 0/4406
?/? c.1719C>T r.(=) p.(=) g.49569663C>T Copied from the Exome Variant Server DAG1_000083 3/13006 3/8600 0/4406
?/? c.1736C>T r.(?) p.(Ala579Val) g.49569680C>T Copied from the Exome Variant Server DAG1_000084 2/13006 0/8600 2/4406
?/? c.1757C>T r.(?) p.(Ser586Leu) g.49569701C>T Copied from the Exome Variant Server DAG1_000085 2/13006 2/8600 0/4406
?/? c.1773C>T r.(=) p.(=) g.49569717C>T Copied from the Exome Variant Server DAG1_000086 1/13006 0/8600 1/4406
?/? c.1799A>G r.(?) p.(Gln600Arg) g.49569743A>G Copied from the Exome Variant Server DAG1_000088 1/13004 0/8598 1/4406
?/? c.1846C>T r.(?) p.(Pro616Ser) g.49569790C>T Copied from the Exome Variant Server DAG1_000090 1/13006 0/8600 1/4406
?/? c.1873_1875del r.(?) p.(Lys626del) g.49569817_49569819del Copied from the Exome Variant Server DAG1_000092 12/12518 4/8254 8/4264
?/? c.1891A>G r.(?) p.(Lys631Glu) g.49569835A>G Copied from the Exome Variant Server DAG1_000094 1/13006 0/8600 1/4406
?/? c.1954C>T r.(?) p.(Arg652Trp) g.49569898C>T Copied from the Exome Variant Server DAG1_000096 2/13006 2/8600 0/4406
?/? c.1955G>A r.(?) p.(Arg652Gln) g.49569899G>A Copied from the Exome Variant Server DAG1_000098 1/13006 1/8600 0/4406
?/? c.1962C>T r.(=) p.(=) g.49569906C>T Copied from the Exome Variant Server DAG1_000100 1/13006 0/8600 1/4406
?/? c.1985A>G r.(?) p.(Asn662Ser) g.49569929A>G Copied from the Exome Variant Server DAG1_000102 1/13006 0/8600 1/4406
?/? c.2036G>A r.(?) p.(Arg679His) g.49569980G>A Copied from the Exome Variant Server DAG1_000104 25/13006 0/8600 25/4406
?/? c.2039G>A r.(?) p.(Arg680Gln) g.49569983G>A Copied from the Exome Variant Server DAG1_000106 1/13006 0/8600 1/4406
?/? c.2060A>C r.(?) p.(Lys687Thr) g.49570004A>C Copied from the Exome Variant Server DAG1_000087 1/13006 0/8600 1/4406
?/? c.2065C>T r.(?) p.(Arg689Trp) g.49570009C>T Copied from the Exome Variant Server DAG1_000089 1/13006 0/8600 1/4406
?/? c.2082C>T r.(=) p.(=) g.49570026C>T Copied from the Exome Variant Server DAG1_000091 10/13006 2/8600 8/4406
?/? c.2100T>A r.(?) p.(Phe700Leu) g.49570044T>A Copied from the Exome Variant Server DAG1_000093 1/13006 0/8600 1/4406
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