Unique variants in gene CD248

Information The variants shown are described using the NM_020404.2 transcript reference sequence.

113 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.125G>A r.(?) p.(Arg42His) g.66084374C>T Copied from the Exome Variant Server CD248_000113 32/9688 2/6538 30/3150
1 c.215G>A r.(?) p.(Ser72Asn) g.66084284C>T Copied from the Exome Variant Server CD248_000112 118/11392 94/7512 24/3880
1 c.255C>T r.(=) p.(=) g.66084244G>A Copied from the Exome Variant Server CD248_000111 126/11170 3/7472 123/3698
1 c.281G>A r.(?) p.(Cys94Tyr) g.66084218C>T Copied from the Exome Variant Server CD248_000110 2/12038 2/7998 0/4040
1 c.303C>T r.(=) p.(=) g.66084196G>A Copied from the Exome Variant Server CD248_000109 21/12616 4/8368 17/4248
1 c.337G>A r.(?) p.(Ala113Thr) g.66084162C>T Copied from the Exome Variant Server CD248_000108 1/12832 1/8492 0/4340
1 c.343A>G r.(?) p.(Thr115Ala) g.66084156T>C Copied from the Exome Variant Server CD248_000107 104/12798 0/8476 104/4322
1 c.344C>A r.(?) p.(Thr115Asn) g.66084155G>T Copied from the Exome Variant Server CD248_000106 3/12798 0/8476 3/4322
1 c.348C>T r.(=) p.(=) g.66084151G>A Copied from the Exome Variant Server CD248_000105 1/12760 1/8450 0/4310
1 c.373C>T r.(?) p.(Pro125Ser) g.66084126G>A Copied from the Exome Variant Server CD248_000104 2/12668 0/8402 2/4266
1 c.374C>T r.(?) p.(Pro125Leu) g.66084125G>A Copied from the Exome Variant Server CD248_000103 1/12670 1/8396 0/4274
1 c.414C>T r.(=) p.(=) g.66084085G>A Copied from the Exome Variant Server CD248_000102 1/12852 0/8504 1/4348
1 c.415G>A r.(?) p.(Glu139Lys) g.66084084C>T Copied from the Exome Variant Server CD248_000101 1/12854 0/8504 1/4350
1 c.443C>T r.(?) p.(Thr148Met) g.66084056G>A Copied from the Exome Variant Server CD248_000100 2/12774 0/8456 2/4318
1 c.453C>T r.(=) p.(=) g.66084046G>A Copied from the Exome Variant Server CD248_000098 5/12824 0/8496 5/4328
1 c.480C>G r.(?) p.(Phe160Leu) g.66084019G>C Copied from the Exome Variant Server CD248_000096 1/12922 0/8550 1/4372
1 c.494C>T r.(?) p.(Pro165Leu) g.66084005G>A Copied from the Exome Variant Server CD248_000094 1/12894 1/8530 0/4364
1 c.495G>A r.(=) p.(=) g.66084004C>T Copied from the Exome Variant Server CD248_000092 1/12868 1/8512 0/4356
1 c.506A>T r.(?) p.(Asp169Val) g.66083993T>A Copied from the Exome Variant Server CD248_000099 1/12824 1/8492 0/4332
1 c.513G>A r.(=) p.(=) g.66083986C>T Copied from the Exome Variant Server CD248_000097 7/12696 0/8418 7/4278
1 c.532G>A r.(?) p.(Val178Met) g.66083967C>T Copied from the Exome Variant Server CD248_000095 69/12912 1/8552 68/4360
1 c.560C>A r.(?) p.(Ser187Tyr) g.66083939G>T Copied from the Exome Variant Server CD248_000093 1/12936 1/8572 0/4364
1 c.586G>A r.(?) p.(Gly196Ser) g.66083913C>T Copied from the Exome Variant Server CD248_000091 1/12850 0/8514 1/4336
1 c.597C>T r.(=) p.(=) g.66083902G>A Copied from the Exome Variant Server CD248_000090 1/12890 1/8532 0/4358
1 c.664G>A r.(?) p.(Gly222Ser) g.66083835C>T Copied from the Exome Variant Server CD248_000089 1/12984 1/8586 0/4398
1 c.683C>T r.(?) p.(Pro228Leu) g.66083816G>A Copied from the Exome Variant Server CD248_000088 34/12986 30/8586 4/4400
1 c.691C>T r.(=) p.(=) g.66083808G>A Copied from the Exome Variant Server CD248_000087 1/12982 0/8582 1/4400
1 c.717C>T r.(=) p.(=) g.66083782G>A Copied from the Exome Variant Server CD248_000086 4273/12984 3830/8584 443/4400
1 c.726C>T r.(=) p.(=) g.66083773G>A Copied from the Exome Variant Server CD248_000085 2/12986 1/8586 1/4400
1 c.741G>A r.(=) p.(=) g.66083758C>T Copied from the Exome Variant Server CD248_000084 1/12988 1/8588 0/4400
1 c.746_748del r.(?) p.(Glu249del) g.66083751_66083753del Copied from the Exome Variant Server CD248_000083 20/12514 5/8250 15/4264
1 c.759C>T r.(=) p.(=) g.66083740G>A Copied from the Exome Variant Server CD248_000082 1/12984 1/8586 0/4398
1 c.760G>A r.(?) p.(Val254Met) g.66083739C>T Copied from the Exome Variant Server CD248_000081 2/12984 2/8586 0/4398
1 c.776C>G r.(?) p.(Thr259Ser) g.66083723G>C Copied from the Exome Variant Server CD248_000080 2/12984 0/8584 2/4400
1 c.798A>G r.(=) p.(=) g.66083701T>C Copied from the Exome Variant Server CD248_000079 3/12988 0/8588 3/4400
1 c.801C>T r.(=) p.(=) g.66083698G>A Copied from the Exome Variant Server CD248_000078 2/12986 0/8586 2/4400
1 c.806G>A r.(?) p.(Arg269His) g.66083693C>T Copied from the Exome Variant Server CD248_000077 2/12986 2/8588 0/4398
1 c.827C>T r.(?) p.(Ala276Val) g.66083672G>A Copied from the Exome Variant Server CD248_000076 21/12986 19/8586 2/4400
1 c.833C>A r.(?) p.(Ala278Asp) g.66083666G>T Copied from the Exome Variant Server CD248_000075 36/12984 0/8588 36/4396
1 c.836C>T r.(?) p.(Pro279Leu) g.66083663G>A Copied from the Exome Variant Server CD248_000074 2/12984 1/8588 1/4396
1 c.840C>T r.(=) p.(=) g.66083659G>A Copied from the Exome Variant Server CD248_000073 1/12984 1/8588 0/4396
1 c.859G>A r.(?) p.(Gly287Ser) g.66083640C>T Copied from the Exome Variant Server CD248_000072 1/12986 1/8590 0/4396
1 c.864G>A r.(=) p.(=) g.66083635C>T Copied from the Exome Variant Server CD248_000071 1/12988 0/8590 1/4398
1 c.878G>A r.(?) p.(Ser293Asn) g.66083621C>T Copied from the Exome Variant Server CD248_000070 1/12990 1/8590 0/4400
1 c.902G>A r.(?) p.(Arg301Gln) g.66083597C>T Copied from the Exome Variant Server CD248_000069 2/12990 1/8590 1/4400
1 c.908C>T r.(?) p.(Ala303Val) g.66083591G>A Copied from the Exome Variant Server CD248_000068 79/12990 72/8590 7/4400
1 c.924C>T r.(=) p.(=) g.66083575G>A Copied from the Exome Variant Server CD248_000067 1/12990 1/8590 0/4400
1 c.931G>A r.(?) p.(Val311Met) g.66083568C>T Copied from the Exome Variant Server CD248_000066 1/12990 0/8590 1/4400
1 c.951G>A r.(=) p.(=) g.66083548C>T Copied from the Exome Variant Server CD248_000065 1/12990 0/8590 1/4400
1 c.957C>T r.(=) p.(=) g.66083542G>A Copied from the Exome Variant Server CD248_000064 2/12990 0/8590 2/4400
1 c.988G>A r.(?) p.(Val330Ile) g.66083511C>T Copied from the Exome Variant Server CD248_000063 2/12990 0/8590 2/4400
1 c.1014C>T r.(=) p.(=) g.66083485G>A Copied from the Exome Variant Server CD248_000062 2/12990 2/8590 0/4400
1 c.1015G>A r.(?) p.(Glu339Lys) g.66083484C>T Copied from the Exome Variant Server CD248_000061 1/12990 0/8590 1/4400
1 c.1093G>A r.(?) p.(Gly365Arg) g.66083406C>T Copied from the Exome Variant Server CD248_000060 2/12990 2/8590 0/4400
1 c.1125G>A r.(=) p.(=) g.66083374C>T Copied from the Exome Variant Server CD248_000059 2/12990 2/8590 0/4400
1 c.1137C>T r.(=) p.(=) g.66083362G>A Copied from the Exome Variant Server CD248_000058 212/12990 3/8590 209/4400
1 c.1142C>A r.(?) p.(Ala381Asp) g.66083357G>T Copied from the Exome Variant Server CD248_000057 1/12990 1/8590 0/4400
1 c.1159G>A r.(?) p.(Gly387Ser) g.66083340C>T Copied from the Exome Variant Server CD248_000056 1/12990 1/8590 0/4400
1 c.1169C>T r.(?) p.(Thr390Met) g.66083330G>A Copied from the Exome Variant Server CD248_000055 1/12990 0/8590 1/4400
1 c.1203G>A r.(=) p.(=) g.66083296C>T Copied from the Exome Variant Server CD248_000054 8/12990 0/8590 8/4400
1 c.1219G>A r.(?) p.(Ala407Thr) g.66083280C>T Copied from the Exome Variant Server CD248_000053 1/12990 1/8590 0/4400
1 c.1230T>C r.(=) p.(=) g.66083269A>G Copied from the Exome Variant Server CD248_000052 141/12990 3/8590 138/4400
1 c.1235C>T r.(?) p.(Pro412Leu) g.66083264G>A Copied from the Exome Variant Server CD248_000051 2/12990 2/8590 0/4400
1 c.1236G>A r.(=) p.(=) g.66083263C>T Copied from the Exome Variant Server CD248_000050 71/12990 9/8590 62/4400
1 c.1303G>A r.(?) p.(Ala435Thr) g.66083196C>T Copied from the Exome Variant Server CD248_000049 2/12990 0/8590 2/4400
1 c.1326_1328del r.(?) p.(Ser443del) g.66083171_66083173del Copied from the Exome Variant Server CD248_000048 3/12518 3/8254 0/4264
1 c.1341C>T r.(=) p.(=) g.66083158G>A Copied from the Exome Variant Server CD248_000046 137/12990 3/8590 134/4400
1 c.1351G>A r.(?) p.(Val451Met) g.66083148C>T Copied from the Exome Variant Server CD248_000044 1/12990 1/8590 0/4400
1 c.1368G>A r.(=) p.(=) g.66083131C>T Copied from the Exome Variant Server CD248_000047 1/12990 1/8590 0/4400
1 c.1370A>G r.(?) p.(His457Arg) g.66083129T>C Copied from the Exome Variant Server CD248_000045 4884/12990 3885/8590 999/4400
1 c.1388C>G r.(?) p.(Ala463Gly) g.66083111G>C Copied from the Exome Variant Server CD248_000043 1/12990 0/8590 1/4400
1 c.1417C>T r.(?) p.(His473Tyr) g.66083082G>A Copied from the Exome Variant Server CD248_000042 3/12990 2/8590 1/4400
1 c.1435G>C r.(?) p.(Asp479His) g.66083064C>G Copied from the Exome Variant Server CD248_000041 1/12990 1/8590 0/4400
1 c.1450G>A r.(?) p.(Val484Met) g.66083049C>T Copied from the Exome Variant Server CD248_000040 2/12990 2/8590 0/4400
1 c.1455C>T r.(=) p.(=) g.66083044G>A Copied from the Exome Variant Server CD248_000039 52/12990 0/8590 52/4400
1 c.1456G>A r.(?) p.(Ala486Thr) g.66083043C>T Copied from the Exome Variant Server CD248_000038 115/12990 105/8590 10/4400
1 c.1495G>A r.(?) p.(Gly499Ser) g.66083004C>T Copied from the Exome Variant Server CD248_000037 1/12990 1/8590 0/4400
1 c.1509C>T r.(=) p.(=) g.66082990G>A Copied from the Exome Variant Server CD248_000036 1/12990 1/8590 0/4400
1 c.1543C>G r.(?) p.(Pro515Ala) g.66082956G>C Copied from the Exome Variant Server CD248_000035 1/12990 0/8590 1/4400
1 c.1585C>G r.(?) p.(Gln529Glu) g.66082914G>C Copied from the Exome Variant Server CD248_000034 12/12990 12/8590 0/4400
1 c.1589C>T r.(?) p.(Ser530Phe) g.66082910G>A Copied from the Exome Variant Server CD248_000033 1/12990 0/8590 1/4400
1 c.1595T>A r.(?) p.(Met532Lys) g.66082904A>T Copied from the Exome Variant Server CD248_000032 3/12990 0/8590 3/4400
1 c.1609C>T r.(?) p.(Arg537Trp) g.66082890G>A Copied from the Exome Variant Server CD248_000031 2/12990 1/8590 1/4400
1 c.1610G>A r.(?) p.(Arg537Gln) g.66082889C>T Copied from the Exome Variant Server CD248_000030 1/12990 1/8590 0/4400
1 c.1620C>T r.(=) p.(=) g.66082879G>A Copied from the Exome Variant Server CD248_000029 1/12990 0/8590 1/4400
1 c.1632_1634del r.(?) p.(Thr545del) g.66082865_66082867del Copied from the Exome Variant Server CD248_000028 1/12518 0/8254 1/4264
1 c.1679C>T r.(?) p.(Thr560Ile) g.66082820G>A Copied from the Exome Variant Server CD248_000027 1/12990 1/8590 0/4400
1 c.1707C>G r.(=) p.(=) g.66082792G>C Copied from the Exome Variant Server CD248_000026 22/12990 2/8590 20/4400
1 c.1755C>T r.(=) p.(=) g.66082744G>A Copied from the Exome Variant Server CD248_000025 1/12990 1/8590 0/4400
1 c.1759A>C r.(?) p.(Thr587Pro) g.66082740T>G Copied from the Exome Variant Server CD248_000024 5/12990 0/8590 5/4400
1 c.1766A>C r.(?) p.(Gln589Pro) g.66082733T>G Copied from the Exome Variant Server CD248_000023 1/12990 1/8590 0/4400
1 c.1794C>T r.(=) p.(=) g.66082705G>A Copied from the Exome Variant Server CD248_000022 64/12990 0/8590 64/4400
1 c.1802C>T r.(?) p.(Ser601Phe) g.66082697G>A Copied from the Exome Variant Server CD248_000021 1/12990 1/8590 0/4400
1 c.1820C>T r.(?) p.(Ser607Phe) g.66082679G>A Copied from the Exome Variant Server CD248_000020 1/12990 1/8590 0/4400
1 c.1861C>T r.(=) p.(=) g.66082638G>A Copied from the Exome Variant Server CD248_000019 3/12988 0/8588 3/4400
1 c.1863G>A r.(=) p.(=) g.66082636C>T Copied from the Exome Variant Server CD248_000018 4/12990 4/8590 0/4400
1 c.1951C>T r.(?) p.(Pro651Ser) g.66082548G>A Copied from the Exome Variant Server CD248_000017 7/12974 0/8578 7/4396
1 c.1966G>A r.(?) p.(Ala656Thr) g.66082533C>T Copied from the Exome Variant Server CD248_000016 1/12960 1/8566 0/4394
1 c.1971G>A r.(=) p.(=) g.66082528C>T Copied from the Exome Variant Server CD248_000015 1/12960 1/8566 0/4394
1 c.2031C>T r.(=) p.(=) g.66082468G>A Copied from the Exome Variant Server CD248_000014 11/12990 0/8590 11/4400
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