All transcript variants in gene CEP250

Information The variants shown are described using the NM_007186.3 transcript reference sequence.

372 entries on 4 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.-26C>T r.(=) p.(=) g.34050167C>T Copied from the Exome Variant Server CEP250_000001 1/12988 0/8592 1/4396
?/? c.49C>A r.(?) p.(Gln17Lys) g.34050241C>A Copied from the Exome Variant Server CEP250_000002 7/13004 0/8600 7/4404
?/? c.186+26G>C r.(=) p.(=) g.34050404G>C Copied from the Exome Variant Server CEP250_000003 5/12982 0/8590 5/4392
?/? c.187-36G>T r.(=) p.(=) g.34051364G>T Copied from the Exome Variant Server CEP250_000004 2/13006 2/8600 0/4406
?/? c.199C>T r.(?) p.(Arg67*) g.34051412C>T Copied from the Exome Variant Server CEP250_000005 1/13006 1/8600 0/4406
?/? c.209G>T r.(?) p.(Cys70Phe) g.34051422G>T Copied from the Exome Variant Server CEP250_000006 1/13006 0/8600 1/4406
?/? c.227G>A r.(?) p.(Arg76Gln) g.34051440G>A Copied from the Exome Variant Server CEP250_000007 1/13006 1/8600 0/4406
?/? c.243+47T>C r.(=) p.(=) g.34051503T>C Copied from the Exome Variant Server CEP250_000008 1/13006 1/8600 0/4406
?/? c.244-32A>G r.(=) p.(=) g.34053536A>G Copied from the Exome Variant Server CEP250_000009 15/13004 0/8598 15/4406
?/? c.244-23A>T r.(=) p.(=) g.34053545A>T Copied from the Exome Variant Server CEP250_000010 1/13004 1/8598 0/4406
?/? c.244-11G>C r.(=) p.(=) g.34053557G>C Copied from the Exome Variant Server CEP250_000011 1/13004 1/8598 0/4406
?/? c.244-6G>A r.(=) p.(=) g.34053562G>A Copied from the Exome Variant Server CEP250_000012 2/13004 2/8598 0/4406
?/? c.247C>T r.(?) p.(Pro83Ser) g.34053571C>T Copied from the Exome Variant Server CEP250_000013 3/13006 2/8600 1/4406
?/? c.277G>A r.(?) p.(Glu93Lys) g.34053601G>A Copied from the Exome Variant Server CEP250_000014 1/13006 1/8600 0/4406
?/? c.305G>A r.(?) p.(Arg102Gln) g.34053629G>A Copied from the Exome Variant Server CEP250_000015 1/13006 1/8600 0/4406
?/? c.306A>G r.(=) p.(=) g.34053630A>G Copied from the Exome Variant Server CEP250_000016 1/13006 1/8600 0/4406
?/? c.326+34T>A r.(=) p.(=) g.34053684T>A Copied from the Exome Variant Server CEP250_000017 138/13006 3/8600 135/4406
?/? c.327-39C>T r.(=) p.(=) g.34053825C>T Copied from the Exome Variant Server CEP250_000018 1/13006 0/8600 1/4406
?/? c.327-33T>C r.(=) p.(=) g.34053831T>C Copied from the Exome Variant Server CEP250_000019 1/13006 1/8600 0/4406
?/? c.327-28C>T r.(=) p.(=) g.34053836C>T Copied from the Exome Variant Server CEP250_000020 1/13006 1/8600 0/4406
?/? c.327-4G>A r.spl? p.? g.34053860G>A Copied from the Exome Variant Server CEP250_000021 2/13006 0/8600 2/4406
?/? c.353C>T r.(?) p.(Thr118Ile) g.34053890C>T Copied from the Exome Variant Server CEP250_000022 1/13006 1/8600 0/4406
?/? c.357G>A r.(=) p.(=) g.34053894G>A Copied from the Exome Variant Server CEP250_000023 1/13006 0/8600 1/4406
?/? c.366G>A r.(=) p.(=) g.34053903G>A Copied from the Exome Variant Server CEP250_000024 1/13006 0/8600 1/4406
?/? c.384C>T r.(=) p.(=) g.34053921C>T Copied from the Exome Variant Server CEP250_000025 14/13006 13/8600 1/4406
?/? c.445C>T r.(?) p.(Arg149Trp) g.34053982C>T Copied from the Exome Variant Server CEP250_000026 3/13006 1/8600 2/4406
?/? c.461G>A r.(?) p.(Arg154Lys) g.34053998G>A Copied from the Exome Variant Server CEP250_000027 3/13006 0/8600 3/4406
?/? c.482T>C r.(?) p.(Met161Thr) g.34054019T>C Copied from the Exome Variant Server CEP250_000028 5/13004 0/8598 5/4406
?/? c.492+11C>T r.(=) p.(=) g.34054040C>T Copied from the Exome Variant Server CEP250_000029 1/12996 1/8596 0/4400
?/? c.493-52G>A r.(=) p.(=) g.34054739G>A Copied from the Exome Variant Server CEP250_000030 17/5734 1/3982 16/1752
?/? c.493-37C>A r.(=) p.(=) g.34054754C>A Copied from the Exome Variant Server CEP250_000031 55/13006 0/8600 55/4406
?/? c.493-1G>A r.spl? p.? g.34054790G>A Copied from the Exome Variant Server CEP250_000032 1/13006 1/8600 0/4406
?/? c.526C>T r.(?) p.(Arg176Cys) g.34054824C>T Copied from the Exome Variant Server CEP250_000033 4/13006 2/8600 2/4406
?/? c.553G>A r.(?) p.(Val185Met) g.34054851G>A Copied from the Exome Variant Server CEP250_000034 1/13006 1/8600 0/4406
?/? c.566G>A r.(?) p.(Arg189His) g.34054864G>A Copied from the Exome Variant Server CEP250_000035 2/13006 2/8600 0/4406
?/? c.634C>T r.(?) p.(Leu212Phe) g.34055163C>T Copied from the Exome Variant Server CEP250_000036 1/13006 1/8600 0/4406
?/? c.665G>A r.(?) p.(Arg222His) g.34055194G>A Copied from the Exome Variant Server CEP250_000037 1/13006 1/8600 0/4406
?/? c.679G>A r.(?) p.(Ala227Thr) g.34055208G>A Copied from the Exome Variant Server CEP250_000038 184/13006 1/8600 183/4406
?/? c.756G>A r.(=) p.(=) g.34055285G>A Copied from the Exome Variant Server CEP250_000039 1/13006 1/8600 0/4406
?/? c.851G>A r.(?) p.(Arg284Gln) g.34055380G>A Copied from the Exome Variant Server CEP250_000040 1/13006 0/8600 1/4406
?/? c.851+6A>G r.(=) p.(=) g.34055386A>G Copied from the Exome Variant Server CEP250_000041 2/13006 2/8600 0/4406
?/? c.851+8G>A r.(=) p.(=) g.34055388G>A Copied from the Exome Variant Server CEP250_000042 1/13006 0/8600 1/4406
?/? c.851+16G>A r.(=) p.(=) g.34055396G>A Copied from the Exome Variant Server CEP250_000043 1/13006 0/8600 1/4406
?/? c.851+22G>A r.(=) p.(=) g.34055402G>A Copied from the Exome Variant Server CEP250_000044 57/13006 0/8600 57/4406
?/? c.852-28G>A r.(=) p.(=) g.34057687G>A Copied from the Exome Variant Server CEP250_000045 31/13006 0/8600 31/4406
?/? c.852-21G>A r.(=) p.(=) g.34057694G>A Copied from the Exome Variant Server CEP250_000046 1/13006 1/8600 0/4406
?/? c.859G>A r.(?) p.(Glu287Lys) g.34057722G>A Copied from the Exome Variant Server CEP250_000047 4/13006 4/8600 0/4406
?/? c.902A>G r.(?) p.(Asp301Gly) g.34057765A>G Copied from the Exome Variant Server CEP250_000048 1/13006 0/8600 1/4406
?/? c.913A>G r.(?) p.(Met305Val) g.34057776A>G Copied from the Exome Variant Server CEP250_000049 1/13006 0/8600 1/4406
?/? c.921G>T r.(?) p.(Lys307Asn) g.34057784G>T Copied from the Exome Variant Server CEP250_000050 1/13006 0/8600 1/4406
?/? c.936A>G r.(=) p.(=) g.34057799A>G Copied from the Exome Variant Server CEP250_000051 53/13006 46/8600 7/4406
?/? c.948+34C>T r.(=) p.(=) g.34057845C>T Copied from the Exome Variant Server CEP250_000052 1/13006 0/8600 1/4406
?/? c.949-21_949-17del r.(=) p.(=) g.34059854_34059858del Copied from the Exome Variant Server CEP250_000053 75/12518 54/8254 21/4264
?/? c.949-19_949-18del r.(=) p.(=) g.34059856_34059857del Copied from the Exome Variant Server CEP250_000054 27/12518 17/8254 10/4264
?/? c.982G>A r.(?) p.(Ala328Thr) g.34059908G>A Copied from the Exome Variant Server CEP250_000055 1/13006 0/8600 1/4406
?/? c.1001C>T r.(?) p.(Ala334Val) g.34059927C>T Copied from the Exome Variant Server CEP250_000056 18/13006 0/8600 18/4406
?/? c.1002G>A r.(=) p.(=) g.34059928G>A Copied from the Exome Variant Server CEP250_000057 1/13006 0/8600 1/4406
?/? c.1005A>G r.(=) p.(=) g.34059931A>G Copied from the Exome Variant Server CEP250_000058 1/13006 1/8600 0/4406
?/? c.1009G>C r.(?) p.(Glu337Gln) g.34059935G>C Copied from the Exome Variant Server CEP250_000059 1/13006 0/8600 1/4406
?/? c.1050+19T>A r.(=) p.(=) g.34059995T>A Copied from the Exome Variant Server CEP250_000060 1/13006 1/8600 0/4406
?/? c.1051G>A r.(?) p.(Val351Ile) g.34060498G>A Copied from the Exome Variant Server CEP250_000061 2/13006 0/8600 2/4406
?/? c.1074T>C r.(=) p.(=) g.34060521T>C Copied from the Exome Variant Server CEP250_000062 1/13006 1/8600 0/4406
?/? c.1114G>C r.(?) p.(Asp372His) g.34060561G>C Copied from the Exome Variant Server CEP250_000063 1/13006 1/8600 0/4406
?/? c.1174C>T r.(?) p.(Arg392Cys) g.34060621C>T Copied from the Exome Variant Server CEP250_000064 3/13006 3/8600 0/4406
?/? c.1175G>A r.(?) p.(Arg392His) g.34060622G>A Copied from the Exome Variant Server CEP250_000065 1/13006 1/8600 0/4406
?/? c.1181T>C r.(?) p.(Val394Ala) g.34060628T>C Copied from the Exome Variant Server CEP250_000066 1/13006 0/8600 1/4406
?/? c.1208A>G r.(?) p.(Gln403Arg) g.34060655A>G Copied from the Exome Variant Server CEP250_000067 1/13006 0/8600 1/4406
?/? c.1209+25C>T r.(=) p.(=) g.34060681C>T Copied from the Exome Variant Server CEP250_000068 1/13006 0/8600 1/4406
?/? c.1210-4A>G r.spl? p.? g.34061195A>G Copied from the Exome Variant Server CEP250_000069 2/13006 1/8600 1/4406
?/? c.1213C>T r.(=) p.(=) g.34061202C>T Copied from the Exome Variant Server CEP250_000070 5/13006 4/8600 1/4406
?/? c.1242G>C r.(?) p.(Glu414Asp) g.34061231G>C Copied from the Exome Variant Server CEP250_000071 2/13006 2/8600 0/4406
?/? c.1301G>C r.(?) p.(Arg434Thr) g.34061290G>C Copied from the Exome Variant Server CEP250_000072 5/13006 1/8600 4/4406
?/? c.1329G>A r.(=) p.(=) g.34061318G>A Copied from the Exome Variant Server CEP250_000073 1/13006 1/8600 0/4406
?/? c.1330C>T r.(?) p.(Arg444Trp) g.34061319C>T Copied from the Exome Variant Server CEP250_000074 1/13006 1/8600 0/4406
?/? c.1331G>A r.(?) p.(Arg444Gln) g.34061320G>A Copied from the Exome Variant Server CEP250_000075 1/13006 1/8600 0/4406
?/? c.1361T>G r.(?) p.(Leu454Arg) g.34061350T>G Copied from the Exome Variant Server CEP250_000076 1/13006 1/8600 0/4406
?/? c.1380T>C r.(=) p.(=) g.34061369T>C Copied from the Exome Variant Server CEP250_000077 2/13006 0/8600 2/4406
?/? c.1388+43C>T r.(=) p.(=) g.34061420C>T Copied from the Exome Variant Server CEP250_000078 8/13004 8/8600 0/4404
?/? c.1389-30C>A r.(=) p.(=) g.34061665C>A Copied from the Exome Variant Server CEP250_000079 1/13000 0/8598 1/4402
?/? c.1389-29T>C r.(=) p.(=) g.34061666T>C Copied from the Exome Variant Server CEP250_000080 1/13000 0/8598 1/4402
?/? c.1412C>G r.(?) p.(Ala471Gly) g.34061718C>G Copied from the Exome Variant Server CEP250_000081 4/13000 4/8598 0/4402
?/? c.1462C>T r.(?) p.(Arg488Cys) g.34061768C>T Copied from the Exome Variant Server CEP250_000082 7/13006 0/8600 7/4406
?/? c.1555C>T r.(?) p.(Arg519Trp) g.34061861C>T Copied from the Exome Variant Server CEP250_000083 1/12992 1/8592 0/4400
?/? c.1571+25G>T r.(=) p.(=) g.34061902G>T Copied from the Exome Variant Server CEP250_000084 1/12772 0/8444 1/4328
?/? c.1571+41T>C r.(=) p.(=) g.34061918T>C Copied from the Exome Variant Server CEP250_000085 489/12512 442/8284 47/4228
?/? c.1572-46G>T r.(=) p.(=) g.34063281G>T Copied from the Exome Variant Server CEP250_000086 1/13006 1/8600 0/4406
?/? c.1572-22A>C r.(=) p.(=) g.34063305A>C Copied from the Exome Variant Server CEP250_000087 1/13006 0/8600 1/4406
?/? c.1585A>G r.(?) p.(Met529Val) g.34063340A>G Copied from the Exome Variant Server CEP250_000088 1/13006 1/8600 0/4406
?/? c.1587G>A r.(?) p.(Met529Ile) g.34063342G>A Copied from the Exome Variant Server CEP250_000089 1/13006 0/8600 1/4406
?/? c.1675C>A r.(?) p.(Leu559Met) g.34063430C>A Copied from the Exome Variant Server CEP250_000090 1/13006 1/8600 0/4406
?/? c.1684G>A r.(?) p.(Glu562Lys) g.34063439G>A Copied from the Exome Variant Server CEP250_000091 1/13006 1/8600 0/4406
?/? c.1707G>A r.(=) p.(=) g.34063462G>A Copied from the Exome Variant Server CEP250_000092 1/13006 1/8600 0/4406
?/? c.1708C>T r.(=) p.(=) g.34063463C>T Copied from the Exome Variant Server CEP250_000093 2/13006 1/8600 1/4406
?/? c.1716+3G>A r.spl? p.? g.34063474G>A Copied from the Exome Variant Server CEP250_000094 1/13006 1/8600 0/4406
?/? c.1716+15C>T r.(=) p.(=) g.34063486C>T Copied from the Exome Variant Server CEP250_000095 2/13006 1/8600 1/4406
?/? c.1717-48C>T r.(=) p.(=) g.34064226C>T Copied from the Exome Variant Server CEP250_000096 1/13006 1/8600 0/4406
?/? c.1717-25_1717-24del r.(=) p.(=) g.34064249_34064250del Copied from the Exome Variant Server CEP250_000097 11/12518 7/8254 4/4264
?/? c.1717G>A r.(?) p.(Ala573Thr) g.34064274G>A Copied from the Exome Variant Server CEP250_000098 1/13006 1/8600 0/4406
?/? c.1734A>C r.(=) p.(=) g.34064291A>C Copied from the Exome Variant Server CEP250_000099 1/13006 0/8600 1/4406
?/? c.1779T>A r.(?) p.(Asp593Glu) g.34064336T>A Copied from the Exome Variant Server CEP250_000100 1/13006 1/8600 0/4406
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