All transcript variants in gene CEP63

Information The variants shown are described using the NM_025180.3 transcript reference sequence.

112 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-25-8T>C r.(=) p.(=) g.134214130T>C Copied from the Exome Variant Server CEP63_000001 1/13006 1/8600 0/4406
?/? c.33A>G r.(=) p.(=) g.134214195A>G Copied from the Exome Variant Server CEP63_000002 1/13006 0/8600 1/4406
?/? c.40G>A r.(?) p.(Gly14Ser) g.134214202G>A Copied from the Exome Variant Server CEP63_000003 3/13006 2/8600 1/4406
?/? c.44G>A r.(?) p.(Gly15Glu) g.134214206G>A Copied from the Exome Variant Server CEP63_000004 4/13006 3/8600 1/4406
?/? c.45-46C>T r.(=) p.(=) g.134225905C>T Copied from the Exome Variant Server CEP63_000005 37/12984 0/8598 37/4386
?/? c.45-37A>G r.(=) p.(=) g.134225914A>G Copied from the Exome Variant Server CEP63_000006 1/12996 1/8600 0/4396
?/? c.45-13_45-11del r.(=) p.(=) g.134225938_134225940del Copied from the Exome Variant Server CEP63_000007 9/12520 7/8254 2/4266
?/? c.63T>C r.(=) p.(=) g.134225969T>C Copied from the Exome Variant Server CEP63_000008 1893/13006 1342/8600 551/4406
?/? c.64G>A r.(?) p.(Glu22Lys) g.134225970G>A Copied from the Exome Variant Server CEP63_000009 1/13006 0/8600 1/4406
?/? c.84C>T r.(=) p.(=) g.134225990C>T Copied from the Exome Variant Server CEP63_000010 1/13006 0/8600 1/4406
?/? c.90A>G r.(=) p.(=) g.134225996A>G Copied from the Exome Variant Server CEP63_000011 1/13006 1/8600 0/4406
?/? c.101T>A r.(?) p.(Ile34Lys) g.134226007T>A Copied from the Exome Variant Server CEP63_000012 1/13006 1/8600 0/4406
?/? c.122C>G r.(?) p.(Ser41Cys) g.134226028C>G Copied from the Exome Variant Server CEP63_000013 4/13006 4/8600 0/4406
?/? c.136C>T r.(?) p.(Arg46Cys) g.134226042C>T Copied from the Exome Variant Server CEP63_000014 1/13006 1/8600 0/4406
?/? c.145G>C r.(?) p.(Ala49Pro) g.134226051G>C Copied from the Exome Variant Server CEP63_000015 1/13006 1/8600 0/4406
?/? c.170G>A r.(?) p.(Arg57His) g.134226076G>A Copied from the Exome Variant Server CEP63_000016 1/13006 0/8600 1/4406
?/? c.179A>G r.(?) p.(Glu60Gly) g.134226085A>G Copied from the Exome Variant Server CEP63_000017 1/13006 1/8600 0/4406
?/? c.193A>G r.(?) p.(Arg65Gly) g.134226099A>G Copied from the Exome Variant Server CEP63_000018 1/13006 1/8600 0/4406
?/? c.222+31C>T r.(=) p.(=) g.134226159C>T Copied from the Exome Variant Server CEP63_000019 8360/13006 5783/8600 2577/4406
?/? c.223-37C>T r.(=) p.(=) g.134250650C>T Copied from the Exome Variant Server CEP63_000020 2/13006 0/8600 2/4406
?/? c.275T>C r.(?) p.(Met92Thr) g.134250739T>C Copied from the Exome Variant Server CEP63_000021 2/13006 2/8600 0/4406
?/? c.292C>A r.(?) p.(Gln98Lys) g.134250756C>A Copied from the Exome Variant Server CEP63_000022 1/13006 1/8600 0/4406
?/? c.318+29G>A r.(=) p.(=) g.134250811G>A Copied from the Exome Variant Server CEP63_000023 3/13006 3/8600 0/4406
?/? c.318+43C>G r.(=) p.(=) g.134250825C>G Copied from the Exome Variant Server CEP63_000025 1/13006 1/8600 0/4406
?/? c.322T>C r.(?) p.(Cys108Arg) g.134251623T>C Copied from the Exome Variant Server CEP63_000026 2/13006 1/8600 1/4406
?/? c.324C>T r.(=) p.(=) g.134251625C>T Copied from the Exome Variant Server CEP63_000029 1/13006 0/8600 1/4406
?/? c.378A>G r.(=) p.(=) g.134251679A>G Copied from the Exome Variant Server CEP63_000030 2/13006 0/8600 2/4406
?/? c.403G>T r.(?) p.(Asp135Tyr) g.134251704G>T Copied from the Exome Variant Server CEP63_000033 1/13006 1/8600 0/4406
?/? c.437T>C r.(?) p.(Ile146Thr) g.134251738T>C Copied from the Exome Variant Server CEP63_000035 2/13006 1/8600 1/4406
?/? c.441+12G>T r.(=) p.(=) g.134251754G>T Copied from the Exome Variant Server CEP63_000036 1/13006 0/8600 1/4406
?/? c.441+26A>T r.(=) p.(=) g.134251768A>T Copied from the Exome Variant Server CEP63_000038 4/13006 4/8600 0/4406
?/? c.441+49A>G r.(=) p.(=) g.134251791A>G Copied from the Exome Variant Server CEP63_000024 11/13006 1/8600 10/4406
?/? c.478C>A r.(?) p.(Arg160Ser) g.134256033C>A Copied from the Exome Variant Server CEP63_000027 1/13006 1/8600 0/4406
?/? c.499G>A r.(?) p.(Val167Ile) g.134256054G>A Copied from the Exome Variant Server CEP63_000028 8/13006 0/8600 8/4406
?/? c.504T>G r.(=) p.(=) g.134256059T>G Copied from the Exome Variant Server CEP63_000031 1/13006 1/8600 0/4406
?/? c.555G>C r.(?) p.(Gln185His) g.134256110G>C Copied from the Exome Variant Server CEP63_000032 180/13006 160/8600 20/4406
?/? c.555+31A>G r.(=) p.(=) g.134256141A>G Copied from the Exome Variant Server CEP63_000034 2/13006 1/8600 1/4406
?/? c.555+48C>G r.(=) p.(=) g.134256158C>G Copied from the Exome Variant Server CEP63_000037 10/13006 1/8600 9/4406
?/? c.555+49A>G r.(=) p.(=) g.134256159A>G Copied from the Exome Variant Server CEP63_000039 4965/13006 4418/8600 547/4406
?/? c.567C>A r.(=) p.(=) g.134264439C>A Copied from the Exome Variant Server CEP63_000040 2/13006 1/8600 1/4406
?/? c.569A>G r.(?) p.(Asn190Ser) g.134264441A>G Copied from the Exome Variant Server CEP63_000041 5/13006 4/8600 1/4406
?/? c.577C>T r.(?) p.(Gln193*) g.134264449C>T Copied from the Exome Variant Server CEP63_000042 1/13006 0/8600 1/4406
?/? c.659T>G r.(?) p.(Ile220Ser) g.134264531T>G Copied from the Exome Variant Server CEP63_000043 3/13006 3/8600 0/4406
?/? c.668A>G r.(?) p.(Asn223Ser) g.134264540A>G Copied from the Exome Variant Server CEP63_000044 10/13006 10/8600 0/4406
?/? c.742C>G r.(?) p.(Gln248Glu) g.134264614C>G Copied from the Exome Variant Server CEP63_000045 1/13006 1/8600 0/4406
?/? c.789+19A>G r.(=) p.(=) g.134264680A>G Copied from the Exome Variant Server CEP63_000046 2/12976 2/8592 0/4384
?/? c.790-36G>C r.(=) p.(=) g.134264955G>C Copied from the Exome Variant Server CEP63_000047 15/12872 0/8576 15/4296
?/? c.790-11C>G r.(=) p.(=) g.134264980C>G Copied from the Exome Variant Server CEP63_000048 1/12986 1/8598 0/4388
?/? c.814T>C r.(=) p.(=) g.134265015T>C Copied from the Exome Variant Server CEP63_000049 1/13006 1/8600 0/4406
?/? c.823G>C r.(?) p.(Ala275Pro) g.134265024G>C Copied from the Exome Variant Server CEP63_000050 2/13006 2/8600 0/4406
?/? c.865C>T r.(?) p.(Gln289*) g.134265066C>T Copied from the Exome Variant Server CEP63_000051 1/13006 1/8600 0/4406
?/? c.905C>G r.(?) p.(Thr302Ser) g.134265106C>G Copied from the Exome Variant Server CEP63_000052 15/13006 0/8600 15/4406
?/? c.916G>C r.(?) p.(Val306Leu) g.134265117G>C Copied from the Exome Variant Server CEP63_000053 1/13006 0/8600 1/4406
?/? c.930-29G>C r.(=) p.(=) g.134266148G>C Copied from the Exome Variant Server CEP63_000054 12948/13006 8600/8600 4348/4406
?/? c.930-17C>T r.(=) p.(=) g.134266160C>T Copied from the Exome Variant Server CEP63_000055 1/13006 0/8600 1/4406
?/? c.935G>A r.(?) p.(Arg312Gln) g.134266182G>A Copied from the Exome Variant Server CEP63_000056 2/13006 2/8600 0/4406
?/? c.952G>A r.(?) p.(Glu318Lys) g.134266199G>A Copied from the Exome Variant Server CEP63_000057 1/13006 1/8600 0/4406
?/? c.973G>A r.(?) p.(Gly325Arg) g.134266220G>A Copied from the Exome Variant Server CEP63_000058 9/13006 0/8600 9/4406
?/? c.981G>A r.(=) p.(=) g.134266228G>A Copied from the Exome Variant Server CEP63_000059 1/13006 1/8600 0/4406
?/? c.1003C>A r.(?) p.(Gln335Lys) g.134266250C>A Copied from the Exome Variant Server CEP63_000060 1/13006 1/8600 0/4406
?/? c.1067+7A>G r.(=) p.(=) g.134266321A>G Copied from the Exome Variant Server CEP63_000061 4401/13006 2813/8600 1588/4406
?/? c.1067+13A>G r.(=) p.(=) g.134266327A>G Copied from the Exome Variant Server CEP63_000062 39/13006 0/8600 39/4406
?/? c.1067+18C>T r.(=) p.(=) g.134266332C>T Copied from the Exome Variant Server CEP63_000063 2/13006 0/8600 2/4406
?/? c.1068-2A>G r.spl? p.? g.134267902A>G Copied from the Exome Variant Server CEP63_000064 1/13006 1/8600 0/4406
?/? c.1088C>T r.(?) p.(Thr363Met) g.134267924C>T Copied from the Exome Variant Server CEP63_000065 1/13006 1/8600 0/4406
?/? c.1155C>A r.(?) p.(Asn385Lys) g.134267991C>A Copied from the Exome Variant Server CEP63_000066 110/13006 0/8600 110/4406
?/? c.1182+35A>G r.(=) p.(=) g.134268053A>G Copied from the Exome Variant Server CEP63_000067 130/13006 0/8600 130/4406
?/? c.1223C>T r.(?) p.(Ser408Phe) g.134268945C>T Copied from the Exome Variant Server CEP63_000068 1/13006 0/8600 1/4406
?/? c.1331G>A r.(?) p.(Arg444Gln) g.134269053G>A Copied from the Exome Variant Server CEP63_000069 7/13006 7/8600 0/4406
?/? c.1368A>G r.(=) p.(=) g.134269090A>G Copied from the Exome Variant Server CEP63_000070 2/13006 2/8600 0/4406
?/? c.1381-46G>A r.(=) p.(=) g.134270722G>A Copied from the Exome Variant Server CEP63_000071 6/12948 0/8578 6/4370
?/? c.1381-11C>T r.(=) p.(=) g.134270757C>T Copied from the Exome Variant Server CEP63_000072 3/12996 3/8592 0/4404
?/? c.1381-2_1381del N/A N/A g.134270766_134270768del Copied from the Exome Variant Server CEP63_000073 81/12512 50/8246 31/4266
?/? c.1409A>G r.(?) p.(Lys470Arg) g.134270796A>G Copied from the Exome Variant Server CEP63_000074 1/12998 1/8592 0/4406
?/? c.1431T>G r.(=) p.(=) g.134270818T>G Copied from the Exome Variant Server CEP63_000075 1/13000 0/8594 1/4406
?/? c.1467+10T>C r.(=) p.(=) g.134270864T>C Copied from the Exome Variant Server CEP63_000076 1/12990 0/8584 1/4406
?/? c.1467+29A>G r.(=) p.(=) g.134270883A>G Copied from the Exome Variant Server CEP63_000078 1/12990 1/8584 0/4406
?/? c.1467+32A>C r.(=) p.(=) g.134270886A>C Copied from the Exome Variant Server CEP63_000080 1265/12990 1131/8584 134/4406
?/? c.1468-36T>A r.(=) p.(=) g.134276948T>A Copied from the Exome Variant Server CEP63_000082 2/12906 0/8572 2/4334
?/? c.1468-23A>C r.(=) p.(=) g.134276961A>C Copied from the Exome Variant Server CEP63_000084 1/12948 0/8576 1/4372
?/? c.1499A>T r.(?) p.(Glu500Val) g.134277015A>T Copied from the Exome Variant Server CEP63_000086 1/12994 0/8592 1/4402
?/? c.1508T>C r.(?) p.(Ile503Thr) g.134277024T>C Copied from the Exome Variant Server CEP63_000077 1/12998 0/8592 1/4406
?/? c.1596G>A r.(=) p.(=) g.134277112G>A Copied from the Exome Variant Server CEP63_000079 4/13000 4/8594 0/4406
?/? c.1599G>A r.(?) p.(Met533Ile) g.134277115G>A Copied from the Exome Variant Server CEP63_000081 1/13000 1/8594 0/4406
?/? c.1620G>A r.(=) p.(=) g.134277136G>A Copied from the Exome Variant Server CEP63_000083 8/13002 7/8596 1/4406
?/? c.1657A>G r.(?) p.(Lys553Glu) g.134277173A>G Copied from the Exome Variant Server CEP63_000085 7/13002 0/8598 7/4404
?/? c.1673+6_1673+7insT r.(=) p.(=) g.134277195_134277196insT Copied from the Exome Variant Server CEP63_000087 4156/12380 2657/8198 1499/4182
?/? c.1673+18T>C r.(=) p.(=) g.134277207T>C Copied from the Exome Variant Server CEP63_000088 1/12860 1/8538 0/4322
?/? c.1673+43A>G r.(=) p.(=) g.134277232A>G Copied from the Exome Variant Server CEP63_000089 6/12570 6/8396 0/4174
?/? c.1674-14A>C r.(=) p.(=) g.134277978A>C Copied from the Exome Variant Server CEP63_000090 1/13006 1/8600 0/4406
?/? c.1682A>T r.(?) p.(His561Leu) g.134278000A>T Copied from the Exome Variant Server CEP63_000091 1/13006 0/8600 1/4406
?/? c.1685G>T r.(?) p.(Gly562Val) g.134278003G>T Copied from the Exome Variant Server CEP63_000092 1/13006 1/8600 0/4406
?/? c.1706T>G r.(?) p.(Ile569Arg) g.134278024T>G Copied from the Exome Variant Server CEP63_000093 1/13006 1/8600 0/4406
?/? c.1722C>A r.(?) p.(Tyr574*) g.134278040C>A Copied from the Exome Variant Server CEP63_000094 2/13006 2/8600 0/4406
?/? c.1752A>C r.(?) p.(Gln584His) g.134278070A>C Copied from the Exome Variant Server CEP63_000095 1/13006 0/8600 1/4406
?/? c.1795C>T r.(=) p.(=) g.134278113C>T Copied from the Exome Variant Server CEP63_000096 1/13006 0/8600 1/4406
?/? c.1796T>C r.(?) p.(Leu599Pro) g.134278114T>C Copied from the Exome Variant Server CEP63_000097 1/13006 1/8600 0/4406
?/? c.1799G>C r.(?) p.(Ser600Thr) g.134278117G>C Copied from the Exome Variant Server CEP63_000098 5/13006 5/8600 0/4406
?/? c.1806A>G r.(=) p.(=) g.134278124A>G Copied from the Exome Variant Server CEP63_000099 1/13006 1/8600 0/4406
?/? c.1829G>T r.(?) p.(Arg610Met) g.134278147G>T Copied from the Exome Variant Server CEP63_000100 1/13006 1/8600 0/4406
Legend   « First ‹ Prev     1 2     Next › Last »