All transcript variants in gene INTS8

Information The variants shown are described using the NM_017864.2 transcript reference sequence.

174 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.-13_-12insG r.(=) p.(=) g.95835647_95835648insG Copied from the Exome Variant Server INTS8_000010 102/5686 70/4130 32/1556
?/? c.131-23A>T r.(=) p.(=) g.95837098A>T Copied from the Exome Variant Server INTS8_000012 515/12938 464/8580 51/4358
?/? c.131-20T>C r.(=) p.(=) g.95837101T>C Copied from the Exome Variant Server INTS8_000014 1/12942 0/8584 1/4358
?/? c.131-9A>G r.(=) p.(=) g.95837112A>G Copied from the Exome Variant Server INTS8_000017 144/12994 101/8598 43/4396
?/? c.209A>C r.(?) p.(Gln70Pro) g.95837199A>C Copied from the Exome Variant Server INTS8_000001 1/13006 1/8600 0/4406
?/? c.210A>G r.(=) p.(=) g.95837200A>G Copied from the Exome Variant Server INTS8_000002 1/13006 0/8600 1/4406
?/? c.249A>G r.(=) p.(=) g.95837239A>G Copied from the Exome Variant Server INTS8_000003 1/13006 0/8600 1/4406
?/? c.300G>A r.(=) p.(=) g.95837290G>A Copied from the Exome Variant Server INTS8_000004 11/13004 0/8598 11/4406
?/? c.301A>G r.(?) p.(Lys101Glu) g.95837291A>G Copied from the Exome Variant Server INTS8_000005 1/13004 1/8598 0/4406
?/? c.306-44C>T r.(=) p.(=) g.95839447C>T Copied from the Exome Variant Server INTS8_000006 2/13006 0/8600 2/4406
?/? c.306-40C>T r.(=) p.(=) g.95839451C>T Copied from the Exome Variant Server INTS8_000007 42/13006 0/8600 42/4406
?/? c.306-20del r.(=) p.(=) g.95839471del Copied from the Exome Variant Server INTS8_000008 1/12518 1/8254 0/4264
?/? c.306-17C>T r.(=) p.(=) g.95839474C>T Copied from the Exome Variant Server INTS8_000009 1/13006 1/8600 0/4406
?/? c.306-8T>G r.(=) p.(=) g.95839483T>G Copied from the Exome Variant Server INTS8_000011 1/13006 1/8600 0/4406
?/? c.333A>C r.(=) p.(=) g.95839518A>C Copied from the Exome Variant Server INTS8_000013 1/13006 1/8600 0/4406
?/? c.397G>A r.(?) p.(Ala133Thr) g.95839582G>A Copied from the Exome Variant Server INTS8_000015 2/13006 2/8600 0/4406
?/? c.446+28G>A r.(=) p.(=) g.95839659G>A Copied from the Exome Variant Server INTS8_000016 1/13006 0/8600 1/4406
?/? c.446+52A>G r.(=) p.(=) g.95839683A>G Copied from the Exome Variant Server INTS8_000018 1/7272 1/4618 0/2654
?/? c.447-55A>G r.(=) p.(=) g.95839895A>G Copied from the Exome Variant Server INTS8_000019 1/4566 1/3182 0/1384
?/? c.447-12_447-8del r.(=) p.(=) g.95839938_95839942del Copied from the Exome Variant Server INTS8_000020 324/12518 221/8254 103/4264
?/? c.447-6C>T r.(=) p.(=) g.95839944C>T Copied from the Exome Variant Server INTS8_000021 1/13006 0/8600 1/4406
?/? c.451A>G r.(?) p.(Ile151Val) g.95839954A>G Copied from the Exome Variant Server INTS8_000022 1/13006 0/8600 1/4406
?/? c.470G>T r.(?) p.(Ser157Ile) g.95839973G>T Copied from the Exome Variant Server INTS8_000023 1/13006 1/8600 0/4406
?/? c.518+25C>T r.(=) p.(=) g.95840046C>T Copied from the Exome Variant Server INTS8_000024 1/13006 1/8600 0/4406
?/? c.518+37T>C r.(=) p.(=) g.95840058T>C Copied from the Exome Variant Server INTS8_000025 1/13006 0/8600 1/4406
?/? c.519-59A>T r.(=) p.(=) g.95841144A>T Copied from the Exome Variant Server INTS8_000026 1/4566 0/3182 1/1384
?/? c.519-18C>G r.(=) p.(=) g.95841185C>G Copied from the Exome Variant Server INTS8_000027 6/13004 3/8600 3/4404
?/? c.570+19_570+22del r.(=) p.(=) g.95841273_95841276del Copied from the Exome Variant Server INTS8_000028 1/12516 1/8254 0/4262
?/? c.570+46T>G r.(=) p.(=) g.95841300T>G Copied from the Exome Variant Server INTS8_000029 28/13006 0/8600 28/4406
?/? c.570+50G>T r.(=) p.(=) g.95841304G>T Copied from the Exome Variant Server INTS8_000030 1/13006 1/8600 0/4406
?/? c.595A>G r.(?) p.(Ile199Val) g.95844244A>G Copied from the Exome Variant Server INTS8_000031 1/13006 0/8600 1/4406
?/? c.627C>T r.(=) p.(=) g.95844276C>T Copied from the Exome Variant Server INTS8_000032 1/13006 1/8600 0/4406
?/? c.651G>A r.(?) p.(Met217Ile) g.95844300G>A Copied from the Exome Variant Server INTS8_000033 1/13006 1/8600 0/4406
?/? c.721T>A r.(?) p.(Leu241Met) g.95844370T>A Copied from the Exome Variant Server INTS8_000034 1/13006 1/8600 0/4406
?/? c.753+10T>C r.(=) p.(=) g.95844412T>C Copied from the Exome Variant Server INTS8_000035 1/13006 1/8600 0/4406
?/? c.753+13T>C r.(=) p.(=) g.95844415T>C Copied from the Exome Variant Server INTS8_000036 14/13006 0/8600 14/4406
?/? c.753+33A>G r.(=) p.(=) g.95844435A>G Copied from the Exome Variant Server INTS8_000037 1/13006 1/8600 0/4406
?/? c.753+36T>A r.(=) p.(=) g.95844438T>A Copied from the Exome Variant Server INTS8_000038 697/13006 637/8600 60/4406
?/? c.771C>T r.(=) p.(=) g.95848769C>T Copied from the Exome Variant Server INTS8_000039 1/13006 0/8600 1/4406
?/? c.772G>A r.(?) p.(Ala258Thr) g.95848770G>A Copied from the Exome Variant Server INTS8_000040 1/13006 0/8600 1/4406
?/? c.836T>C r.(?) p.(Phe279Ser) g.95848834T>C Copied from the Exome Variant Server INTS8_000041 1/13006 0/8600 1/4406
?/? c.862-52C>T r.(=) p.(=) g.95850639C>T Copied from the Exome Variant Server INTS8_000042 1/5734 1/3982 0/1752
?/? c.862-17T>C r.(=) p.(=) g.95850674T>C Copied from the Exome Variant Server INTS8_000043 1/13006 1/8600 0/4406
?/? c.873A>G r.(=) p.(=) g.95850702A>G Copied from the Exome Variant Server INTS8_000044 35/13006 31/8600 4/4406
?/? c.1018-11G>A r.(=) p.(=) g.95853708G>A Copied from the Exome Variant Server INTS8_000045 5779/13004 3883/8598 1896/4406
?/? c.1021G>T r.(?) p.(Val341Leu) g.95853722G>T Copied from the Exome Variant Server INTS8_000046 5/13006 0/8600 5/4406
?/? c.1118+1_1118+4del r.spl? p.? g.95853820_95853823del Copied from the Exome Variant Server INTS8_000048 1/12486 1/8236 0/4250
?/? c.1118+24C>G r.(=) p.(=) g.95853843C>G Copied from the Exome Variant Server INTS8_000050 1/13006 0/8600 1/4406
?/? c.1118+25T>C r.(=) p.(=) g.95853844T>C Copied from the Exome Variant Server INTS8_000052 3/13006 3/8600 0/4406
?/? c.1119-27T>C r.(=) p.(=) g.95854548T>C Copied from the Exome Variant Server INTS8_000054 2/12994 2/8590 0/4404
?/? c.1119-19C>A r.(=) p.(=) g.95854556C>A Copied from the Exome Variant Server INTS8_000056 48/12998 43/8594 5/4404
?/? c.1133A>G r.(?) p.(Asp378Gly) g.95854589A>G Copied from the Exome Variant Server INTS8_000057 1/13004 1/8600 0/4404
?/? c.1141T>C r.(?) p.(Cys381Arg) g.95854597T>C Copied from the Exome Variant Server INTS8_000060 1/13000 0/8600 1/4400
?/? c.1171C>T r.(?) p.(Arg391Cys) g.95854627C>T Copied from the Exome Variant Server INTS8_000062 1/13002 1/8600 0/4402
?/? c.1172G>A r.(?) p.(Arg391His) g.95854628G>A Copied from the Exome Variant Server INTS8_000047 2/13002 2/8600 0/4402
?/? c.1229C>G r.(?) p.(Pro410Arg) g.95854685C>G Copied from the Exome Variant Server INTS8_000049 1/12996 1/8594 0/4402
?/? c.1260+7C>T r.(=) p.(=) g.95854723C>T Copied from the Exome Variant Server INTS8_000051 2/12998 0/8596 2/4402
?/? c.1261-42T>C r.(=) p.(=) g.95861648T>C Copied from the Exome Variant Server INTS8_000053 1/12786 1/8480 0/4306
?/? c.1310G>A r.(?) p.(Gly437Glu) g.95861739G>A Copied from the Exome Variant Server INTS8_000055 66/12966 55/8572 11/4394
?/? c.1331+26del r.(=) p.(=) g.95861786del Copied from the Exome Variant Server INTS8_000059 2411/12342 1792/8152 619/4190
?/? c.1331+26dup r.(=) p.(=) g.95861786dup Copied from the Exome Variant Server INTS8_000058 88/12342 52/8152 36/4190
?/? c.1331+26_1331+27insTT r.(=) p.(=) g.95861786_95861787insTT Copied from the Exome Variant Server INTS8_000061 38/12342 7/8152 31/4190
?/? c.1331+65T>A r.(=) p.(=) g.95861825T>A Copied from the Exome Variant Server INTS8_000063 751/4526 600/3142 151/1384
?/? c.1332-46C>T r.(=) p.(=) g.95862098C>T Copied from the Exome Variant Server INTS8_000064 1/13002 1/8596 0/4406
?/? c.1332-29T>G r.(=) p.(=) g.95862115T>G Copied from the Exome Variant Server INTS8_000065 1/13006 1/8600 0/4406
?/? c.1332-6A>C r.(=) p.(=) g.95862138A>C Copied from the Exome Variant Server INTS8_000066 1/13006 1/8600 0/4406
?/? c.1332-2A>G r.spl? p.? g.95862142A>G Copied from the Exome Variant Server INTS8_000068 1/13006 1/8600 0/4406
?/? c.1345G>A r.(?) p.(Gly449Arg) g.95862157G>A Copied from the Exome Variant Server INTS8_000070 1/13006 1/8600 0/4406
?/? c.1365T>C r.(=) p.(=) g.95862177T>C Copied from the Exome Variant Server INTS8_000072 1/13006 1/8600 0/4406
?/? c.1385A>G r.(?) p.(His462Arg) g.95862197A>G Copied from the Exome Variant Server INTS8_000074 1/13006 1/8600 0/4406
?/? c.1389G>C r.(?) p.(Glu463Asp) g.95862201G>C Copied from the Exome Variant Server INTS8_000076 1/13006 1/8600 0/4406
?/? c.1474A>G r.(?) p.(Ile492Val) g.95862286A>G Copied from the Exome Variant Server INTS8_000078 1/13006 0/8600 1/4406
?/? c.1496A>G r.(?) p.(Tyr499Cys) g.95862308A>G Copied from the Exome Variant Server INTS8_000080 2/13006 1/8600 1/4406
?/? c.1507+15C>T r.(=) p.(=) g.95862334C>T Copied from the Exome Variant Server INTS8_000082 1/13004 0/8598 1/4406
?/? c.1507+22C>G r.(=) p.(=) g.95862341C>G Copied from the Exome Variant Server INTS8_000084 1/13004 0/8598 1/4406
?/? c.1508-46G>A r.(=) p.(=) g.95863735G>A Copied from the Exome Variant Server INTS8_000086 3/12998 3/8594 0/4404
?/? c.1508-7T>C r.(=) p.(=) g.95863774T>C Copied from the Exome Variant Server INTS8_000088 1/13006 1/8600 0/4406
?/? c.1531C>T r.(?) p.(Gln511*) g.95863804C>T Copied from the Exome Variant Server INTS8_000090 1/13006 1/8600 0/4406
?/? c.1533G>A r.(=) p.(=) g.95863806G>A Copied from the Exome Variant Server INTS8_000092 1/13006 1/8600 0/4406
?/? c.1537G>C r.(?) p.(Glu513Gln) g.95863810G>C Copied from the Exome Variant Server INTS8_000067 5/13006 3/8600 2/4406
?/? c.1545A>T r.(?) p.(Gln515His) g.95863818A>T Copied from the Exome Variant Server INTS8_000069 2/13006 1/8600 1/4406
?/? c.1570A>G r.(?) p.(Arg524Gly) g.95863843A>G Copied from the Exome Variant Server INTS8_000071 6/13006 0/8600 6/4406
?/? c.1618C>A r.(?) p.(Gln540Lys) g.95863891C>A Copied from the Exome Variant Server INTS8_000073 2/13006 0/8600 2/4406
?/? c.1636A>T r.(?) p.(Asn546Tyr) g.95863909A>T Copied from the Exome Variant Server INTS8_000075 29/13006 0/8600 29/4406
?/? c.1639A>G r.(?) p.(Lys547Glu) g.95863912A>G Copied from the Exome Variant Server INTS8_000077 1/13006 0/8600 1/4406
?/? c.1641+6C>T r.(=) p.(=) g.95863920C>T Copied from the Exome Variant Server INTS8_000079 499/13006 318/8600 181/4406
?/? c.1641+17G>A r.(=) p.(=) g.95863931G>A Copied from the Exome Variant Server INTS8_000081 2/13006 1/8600 1/4406
?/? c.1642-38A>G r.(=) p.(=) g.95865995A>G Copied from the Exome Variant Server INTS8_000083 1/13002 1/8598 0/4404
?/? c.1665T>C r.(=) p.(=) g.95866056T>C Copied from the Exome Variant Server INTS8_000085 3/13006 3/8600 0/4406
?/? c.1667G>A r.(?) p.(Gly556Asp) g.95866058G>A Copied from the Exome Variant Server INTS8_000087 1/13006 1/8600 0/4406
?/? c.1752+47G>A r.(=) p.(=) g.95866190G>A Copied from the Exome Variant Server INTS8_000089 1/13006 1/8600 0/4406
?/? c.1753-27C>G r.(=) p.(=) g.95868978C>G Copied from the Exome Variant Server INTS8_000091 1/13006 1/8600 0/4406
?/? c.1763A>G r.(?) p.(His588Arg) g.95869015A>G Copied from the Exome Variant Server INTS8_000093 1/13006 0/8600 1/4406
?/? c.1772A>T r.(?) p.(Gln591Leu) g.95869024A>T Copied from the Exome Variant Server INTS8_000094 2/13006 2/8600 0/4406
?/? c.1789T>C r.(=) p.(=) g.95869041T>C Copied from the Exome Variant Server INTS8_000095 1/13006 1/8600 0/4406
?/? c.1794G>A r.(=) p.(=) g.95869046G>A Copied from the Exome Variant Server INTS8_000096 3/13006 3/8600 0/4406
?/? c.1815G>A r.(=) p.(=) g.95869067G>A Copied from the Exome Variant Server INTS8_000097 5/13006 0/8600 5/4406
?/? c.1844T>A r.(?) p.(Met615Lys) g.95869096T>A Copied from the Exome Variant Server INTS8_000098 1/13006 1/8600 0/4406
?/? c.1905A>G r.(=) p.(=) g.95869157A>G Copied from the Exome Variant Server INTS8_000099 1/13006 1/8600 0/4406
?/? c.1954+4A>G r.spl? p.? g.95869210A>G Copied from the Exome Variant Server INTS8_000100 2/13006 0/8600 2/4406
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