All transcript variants in gene AKAP17A

Information The variants shown are described using the NM_005088.2 transcript reference sequence.

188 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.-19-20G>C r.(=) p.(=) g.1712317G>C Copied from the Exome Variant Server AKAP17A_000001 1/12998 1/8592 0/4406
?/? c.-19-14G>A r.(=) p.(=) g.1712323G>A Copied from the Exome Variant Server AKAP17A_000002 42/12998 2/8592 40/4406
?/? c.-19-9A>G r.(=) p.(=) g.1712328A>G Copied from the Exome Variant Server AKAP17A_000003 1/12998 0/8592 1/4406
?/? c.-19-8T>C r.(=) p.(=) g.1712329T>C Copied from the Exome Variant Server AKAP17A_000004 1/12998 0/8592 1/4406
?/? c.-14A>G r.(=) p.(=) g.1712342A>G Copied from the Exome Variant Server AKAP17A_000005 942/12998 289/8592 653/4406
?/? c.9G>A r.(=) p.(=) g.1712364G>A Copied from the Exome Variant Server AKAP17A_000006 233/12998 212/8592 21/4406
?/? c.30G>A r.(=) p.(=) g.1712385G>A Copied from the Exome Variant Server AKAP17A_000007 2/12998 2/8592 0/4406
?/? c.126G>A r.(=) p.(=) g.1712481G>A Copied from the Exome Variant Server AKAP17A_000008 258/12998 2/8592 256/4406
?/? c.153G>A r.(=) p.(=) g.1712508G>A Copied from the Exome Variant Server AKAP17A_000009 1/12998 1/8592 0/4406
?/? c.198G>A r.(=) p.(=) g.1712553G>A Copied from the Exome Variant Server AKAP17A_000010 4/12998 0/8592 4/4406
?/? c.330G>A r.(=) p.(=) g.1712685G>A Copied from the Exome Variant Server AKAP17A_000011 1/12998 1/8592 0/4406
?/? c.342G>A r.(=) p.(=) g.1712697G>A Copied from the Exome Variant Server AKAP17A_000012 2/12998 0/8592 2/4406
?/? c.375C>T r.(=) p.(=) g.1712730C>T Copied from the Exome Variant Server AKAP17A_000013 1/12998 1/8592 0/4406
?/? c.394C>G r.(?) p.(Arg132Gly) g.1712749C>G Copied from the Exome Variant Server AKAP17A_000014 1/12998 1/8592 0/4406
?/? c.406G>A r.(?) p.(Asp136Asn) g.1712761G>A Copied from the Exome Variant Server AKAP17A_000015 1/12998 0/8592 1/4406
?/? c.414C>T r.(=) p.(=) g.1712769C>T Copied from the Exome Variant Server AKAP17A_000016 3/12998 1/8592 2/4406
?/? c.426G>A r.(=) p.(=) g.1712781G>A Copied from the Exome Variant Server AKAP17A_000017 21/12998 0/8592 21/4406
?/? c.478G>T r.(?) p.(Ala160Ser) g.1712833G>T Copied from the Exome Variant Server AKAP17A_000018 1/12998 1/8592 0/4406
?/? c.498C>T r.(=) p.(=) g.1712853C>T Copied from the Exome Variant Server AKAP17A_000019 43/12998 1/8592 42/4406
?/? c.543C>T r.(=) p.(=) g.1712898C>T Copied from the Exome Variant Server AKAP17A_000020 1/12998 1/8592 0/4406
?/? c.582C>T r.(=) p.(=) g.1712937C>T Copied from the Exome Variant Server AKAP17A_000021 1/12998 1/8592 0/4406
?/? c.585C>T r.(=) p.(=) g.1712940C>T Copied from the Exome Variant Server AKAP17A_000022 26/12998 24/8592 2/4406
?/? c.586C>T r.(?) p.(Arg196Trp) g.1712941C>T Copied from the Exome Variant Server AKAP17A_000023 1/12998 1/8592 0/4406
?/? c.594G>A r.(=) p.(=) g.1712949G>A Copied from the Exome Variant Server AKAP17A_000024 3/12998 0/8592 3/4406
?/? c.600G>A r.(=) p.(=) g.1712955G>A Copied from the Exome Variant Server AKAP17A_000025 1/12998 1/8592 0/4406
?/? c.602G>A r.(?) p.(Gly201Asp) g.1712957G>A Copied from the Exome Variant Server AKAP17A_000026 1/12998 1/8592 0/4406
?/? c.627C>T r.(=) p.(=) g.1712982C>T Copied from the Exome Variant Server AKAP17A_000027 1/12998 0/8592 1/4406
?/? c.645C>T r.(=) p.(=) g.1713000C>T Copied from the Exome Variant Server AKAP17A_000028 2/12998 1/8592 1/4406
?/? c.666C>T r.(=) p.(=) g.1713021C>T Copied from the Exome Variant Server AKAP17A_000029 7034/12998 4590/8592 2444/4406
?/? c.684C>T r.(=) p.(=) g.1713039C>T Copied from the Exome Variant Server AKAP17A_000030 39/12998 0/8592 39/4406
?/? c.685C>G r.(?) p.(Gln229Glu) g.1713040C>G Copied from the Exome Variant Server AKAP17A_000031 1/12998 1/8592 0/4406
?/? c.705C>T r.(=) p.(=) g.1713060C>T Copied from the Exome Variant Server AKAP17A_000032 2/12998 1/8592 1/4406
?/? c.711G>A r.(?) p.(Met237Ile) g.1713066G>A Copied from the Exome Variant Server AKAP17A_000033 1/12998 1/8592 0/4406
?/? c.717C>T r.(=) p.(=) g.1713072C>T Copied from the Exome Variant Server AKAP17A_000034 4/12998 0/8592 4/4406
?/? c.736G>A r.(?) p.(Gly246Ser) g.1713091G>A Copied from the Exome Variant Server AKAP17A_000035 1/12998 1/8592 0/4406
?/? c.738C>T r.(=) p.(=) g.1713093C>T Copied from the Exome Variant Server AKAP17A_000036 1/12998 1/8592 0/4406
?/? c.744C>T r.(=) p.(=) g.1713099C>T Copied from the Exome Variant Server AKAP17A_000037 1/12998 1/8592 0/4406
?/? c.762+22A>G r.(=) p.(=) g.1713139A>G Copied from the Exome Variant Server AKAP17A_000038 16/12996 15/8590 1/4406
?/? c.762+27C>T r.(=) p.(=) g.1713144C>T Copied from the Exome Variant Server AKAP17A_000039 2/12996 1/8590 1/4406
?/? c.762+29C>T r.(=) p.(=) g.1713146C>T Copied from the Exome Variant Server AKAP17A_000040 1/12998 0/8592 1/4406
?/? c.762+45C>T r.(=) p.(=) g.1713162C>T Copied from the Exome Variant Server AKAP17A_000041 1/12996 0/8592 1/4404
?/? c.762+51C>T r.(=) p.(=) g.1713168C>T Copied from the Exome Variant Server AKAP17A_000042 6993/12992 4562/8588 2431/4404
?/? c.763-47G>A r.(=) p.(=) g.1714230G>A Copied from the Exome Variant Server AKAP17A_000043 12/12998 12/8592 0/4406
?/? c.763-39T>C r.(=) p.(=) g.1714238T>C Copied from the Exome Variant Server AKAP17A_000044 1/12998 1/8592 0/4406
?/? c.763-28C>T r.(=) p.(=) g.1714249C>T Copied from the Exome Variant Server AKAP17A_000045 1/12998 0/8592 1/4406
?/? c.850C>G r.(=) p.(=) g.1714364C>G Copied from the Exome Variant Server ASMT_000006 1/12998 1/8592 0/4406
?/? c.867G>A r.(=) p.(=) g.1714381G>A Copied from the Exome Variant Server ASMT_000008 1/12998 0/8592 1/4406
?/? c.884C>T r.(=) p.(=) g.1714398C>T Copied from the Exome Variant Server ASMT_000010 1/12998 1/8592 0/4406
?/? c.893G>A r.(=) p.(=) g.1714407G>A Copied from the Exome Variant Server ASMT_000012 2/12998 1/8592 1/4406
?/? c.911+12G>A r.(=) p.(=) g.1714437G>A Copied from the Exome Variant Server ASMT_000014 1/12998 1/8592 0/4406
?/? c.911+17C>G r.(=) p.(=) g.1714442C>G Copied from the Exome Variant Server ASMT_000001 1/12998 1/8592 0/4406
?/? c.911+26G>A r.(=) p.(=) g.1714451G>A Copied from the Exome Variant Server ASMT_000002 1/12998 0/8592 1/4406
?/? c.911+29G>A r.(=) p.(=) g.1714454G>A Copied from the Exome Variant Server ASMT_000003 3/12998 0/8592 3/4406
?/? c.911+35G>A r.(=) p.(=) g.1714460G>A Copied from the Exome Variant Server ASMT_000004 3/12998 0/8592 3/4406
?/? c.911+38C>T r.(=) p.(=) g.1714463C>T Copied from the Exome Variant Server ASMT_000005 1/12998 1/8592 0/4406
?/? c.911+39G>A r.(=) p.(=) g.1714464G>A Copied from the Exome Variant Server ASMT_000007 1/12998 1/8592 0/4406
?/? c.911+46G>A r.(=) p.(=) g.1714471G>A Copied from the Exome Variant Server ASMT_000009 240/12998 216/8592 24/4406
?/? c.912-38G>A r.(=) p.(=) g.1718047G>A Copied from the Exome Variant Server ASMT_000011 39/12998 37/8592 2/4406
?/? c.912-36C>T r.(=) p.(=) g.1718049C>T Copied from the Exome Variant Server ASMT_000013 1/12998 1/8592 0/4406
?/? c.912-35G>A r.(=) p.(=) g.1718050G>A Copied from the Exome Variant Server ASMT_000015 4/12998 4/8592 0/4406
?/? c.912-34C>G r.(=) p.(=) g.1718051C>G Copied from the Exome Variant Server ASMT_000016 1/12998 1/8592 0/4406
?/? c.912-20C>G r.(=) p.(=) g.1718065C>G Copied from the Exome Variant Server ASMT_000017 2/12998 2/8592 0/4406
?/? c.912-16G>A r.(=) p.(=) g.1718069G>A Copied from the Exome Variant Server ASMT_000018 40/12998 2/8592 38/4406
?/? c.933G>C r.(?) p.(Glu311Asp) g.1718106G>C Copied from the Exome Variant Server ASMT_000019 25/12998 25/8592 0/4406
?/? c.941G>A r.(?) p.(Arg314Gln) g.1718114G>A Copied from the Exome Variant Server ASMT_000020 6/12998 4/8592 2/4406
?/? c.943G>C r.(?) p.(Glu315Gln) g.1718116G>C Copied from the Exome Variant Server ASMT_000021 1/12998 1/8592 0/4406
?/? c.945G>C r.(?) p.(Glu315Asp) g.1718118G>C Copied from the Exome Variant Server ASMT_000022 5/12998 0/8592 5/4406
?/? c.984G>A r.(=) p.(=) g.1718157G>A Copied from the Exome Variant Server ASMT_000023 31/12998 27/8592 4/4406
?/? c.989G>C r.(?) p.(Arg330Thr) g.1718162G>C Copied from the Exome Variant Server ASMT_000024 4/12998 4/8592 0/4406
?/? c.995G>A r.(?) p.(Arg332His) g.1718168G>A Copied from the Exome Variant Server ASMT_000025 1/12998 0/8592 1/4406
?/? c.997G>C r.(?) p.(Glu333Gln) g.1718170G>C Copied from the Exome Variant Server ASMT_000026 1/12998 1/8592 0/4406
?/? c.1007G>A r.(?) p.(Arg336Gln) g.1718180G>A Copied from the Exome Variant Server ASMT_000027 1/12998 1/8592 0/4406
?/? c.1013_1015del r.(?) p.(Lys340del) g.1718186_1718188del Copied from the Exome Variant Server ASMT_000028 21/12504 15/8246 6/4258
?/? c.1024G>C r.(?) p.(Glu342Gln) g.1718197G>C Copied from the Exome Variant Server ASMT_000029 1/12998 1/8592 0/4406
?/? c.1038G>A r.(=) p.(=) g.1718211G>A Copied from the Exome Variant Server ASMT_000030 1/12998 0/8592 1/4406
?/? c.1074del r.(?) p.(Glu359Argfs*28) g.1718247del Copied from the Exome Variant Server ASMT_000031 2/12492 1/8234 1/4258
?/? c.1082G>A r.(?) p.(Arg361His) g.1718255G>A Copied from the Exome Variant Server ASMT_000032 1/12988 1/8584 0/4404
?/? c.1131C>A r.(=) p.(=) g.1718304C>A Copied from the Exome Variant Server ASMT_000033 97/12914 4/8542 93/4372
?/? c.1152+7G>A r.(=) p.(=) g.1718332G>A Copied from the Exome Variant Server ASMT_000034 1/12700 1/8408 0/4292
?/? c.1152+11G>A r.(=) p.(=) g.1718336G>A Copied from the Exome Variant Server ASMT_000035 4/12608 1/8350 3/4258
?/? c.1152+33G>A r.(=) p.(=) g.1718358G>A Copied from the Exome Variant Server ASMT_000036 31/12450 0/8254 31/4196
?/? c.1152+35G>A r.(=) p.(=) g.1718360G>A Copied from the Exome Variant Server ASMT_000037 5455/12444 3898/8254 1557/4190
?/? c.1153-32C>T r.(=) p.(=) g.1719520C>T Copied from the Exome Variant Server ASMT_000038 8/10998 0/7230 8/3768
?/? c.1153-31G>T r.(=) p.(=) g.1719521G>T Copied from the Exome Variant Server ASMT_000039 2/11014 1/7246 1/3768
?/? c.1153-4G>T r.spl? p.? g.1719548G>T Copied from the Exome Variant Server ASMT_000040 66/11678 1/7710 65/3968
?/? c.1200C>G r.(=) p.(=) g.1719599C>G Copied from the Exome Variant Server ASMT_000041 2/12338 2/8194 0/4144
?/? c.1201_1203del r.(?) p.(Gln403del) g.1719600_1719602del Copied from the Exome Variant Server ASMT_000042 25/11636 21/7734 4/3902
?/? c.1244G>A r.(?) p.(Arg415Gln) g.1719643G>A Copied from the Exome Variant Server ASMT_000043 4/12656 3/8374 1/4282
?/? c.1248C>T r.(=) p.(=) g.1719647C>T Copied from the Exome Variant Server ASMT_000044 1/12716 1/8412 0/4304
?/? c.1257G>A r.(=) p.(=) g.1719656G>A Copied from the Exome Variant Server ASMT_000045 3/12810 3/8480 0/4330
?/? c.1272G>A r.(=) p.(=) g.1719671G>A Copied from the Exome Variant Server ASMT_000046 1/12880 0/8524 1/4356
?/? c.1273C>T r.(=) p.(=) g.1719672C>T Copied from the Exome Variant Server ASMT_000047 1/12892 1/8530 0/4362
?/? c.1340C>T r.(?) p.(Pro447Leu) g.1719739C>T Copied from the Exome Variant Server ASMT_000048 3/12872 3/8514 0/4358
?/? c.1344C>T r.(=) p.(=) g.1719743C>T Copied from the Exome Variant Server ASMT_000049 5/12886 5/8522 0/4364
?/? c.1351C>T r.(?) p.(His451Tyr) g.1719750C>T Copied from the Exome Variant Server ASMT_000050 2/12918 2/8544 0/4374
?/? c.1356A>C r.(=) p.(=) g.1719755A>C Copied from the Exome Variant Server ASMT_000051 1/12926 0/8550 1/4376
?/? c.1371C>T r.(=) p.(=) g.1719770C>T Copied from the Exome Variant Server ASMT_000052 2/12910 0/8542 2/4368
?/? c.1372G>A r.(?) p.(Val458Met) g.1719771G>A Copied from the Exome Variant Server ASMT_000053 1/12918 0/8544 1/4374
?/? c.1380C>T r.(=) p.(=) g.1719779C>T Copied from the Exome Variant Server ASMT_000054 1/12924 1/8550 0/4374
?/? c.1383C>T r.(=) p.(=) g.1719782C>T Copied from the Exome Variant Server ASMT_000055 7/12916 6/8544 1/4372
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