Full data view for gene GKAP1

Information The variants shown are described using the NM_025211.3 transcript reference sequence.

74 entries on 1 page. Showing entries 1 - 74.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-4T>A r.(=) p.(=) g.86421436A>T Copied from the Exome Variant Server GKAP1_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.25G>C r.(?) p.(Val9Leu) g.86421408C>G Copied from the Exome Variant Server GKAP1_000072 4/13006 0/8600 4/4406 - - - - - - -
?/? c.92C>T r.(?) p.(Pro31Leu) g.86421341G>A Copied from the Exome Variant Server GKAP1_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.98A>G r.(?) p.(Lys33Arg) g.86421335T>C Copied from the Exome Variant Server GKAP1_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.140G>C r.(?) p.(Ser47Thr) g.86421293C>G Copied from the Exome Variant Server GKAP1_000069 10/13002 1/8598 9/4404 - - - - - - -
?/? c.141C>T r.(=) p.(=) g.86421292G>A Copied from the Exome Variant Server GKAP1_000068 1/13002 0/8598 1/4404 - - - - - - -
?/? c.216+47A>G r.(=) p.(=) g.86421170T>C Copied from the Exome Variant Server GKAP1_000067 6/10646 6/6926 0/3720 - - - - - - -
?/? c.254C>A r.(?) p.(Ser85Tyr) g.86414206G>T Copied from the Exome Variant Server GKAP1_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.271A>G r.(?) p.(Asn91Asp) g.86414189T>C Copied from the Exome Variant Server GKAP1_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.308A>G r.(?) p.(Gln103Arg) g.86414152T>C Copied from the Exome Variant Server GKAP1_000064 2/13006 2/8600 0/4406 - - - - - - -
?/? c.339G>C r.(?) p.(Glu113Asp) g.86414121C>G Copied from the Exome Variant Server GKAP1_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.360+36T>C r.(=) p.(=) g.86414064A>G Copied from the Exome Variant Server GKAP1_000062 8/13006 8/8600 0/4406 - - - - - - -
?/? c.360+41T>A r.(=) p.(=) g.86414059A>T Copied from the Exome Variant Server GKAP1_000061 2/13004 0/8600 2/4404 - - - - - - -
?/? c.361-39A>G r.(=) p.(=) g.86403632T>C Copied from the Exome Variant Server GKAP1_000060 1/12988 1/8586 0/4402 - - - - - - -
?/? c.361-29_361-28del r.(=) p.(=) g.86403621_86403622del Copied from the Exome Variant Server GKAP1_000059 3/12500 1/8240 2/4260 - - - - - - -
?/? c.361-28_361-27del r.(=) p.(=) g.86403620_86403621del Copied from the Exome Variant Server GKAP1_000058 2/12500 1/8240 1/4260 - - - - - - -
?/? c.361-29_361-26del r.(=) p.(=) g.86403619_86403622del Copied from the Exome Variant Server GKAP1_000057 1/12500 0/8240 1/4260 - - - - - - -
?/? c.361-5del r.spl? p.? g.86403598del Copied from the Exome Variant Server GKAP1_000056 7/12490 3/8230 4/4260 - - - - - - -
?/? c.371A>G r.(?) p.(Glu124Gly) g.86403583T>C Copied from the Exome Variant Server GKAP1_000055 1/12990 0/8590 1/4400 - - - - - - -
?/? c.399A>G r.(=) p.(=) g.86403555T>C Copied from the Exome Variant Server GKAP1_000054 1/12994 1/8594 0/4400 - - - - - - -
?/? c.405A>C r.(?) p.(Leu135Phe) g.86403549T>G Copied from the Exome Variant Server GKAP1_000053 2/12994 0/8594 2/4400 - - - - - - -
?/? c.439-38G>T r.(=) p.(=) g.86399791C>A Copied from the Exome Variant Server GKAP1_000074 8/12984 7/8582 1/4402 - - - - - - -
?/? c.465A>C r.(=) p.(=) g.86399727T>G Copied from the Exome Variant Server GKAP1_000051 2/12988 2/8588 0/4400 - - - - - - -
?/? c.520_522del r.(?) p.(Asp174del) g.86399670_86399672del Copied from the Exome Variant Server GKAP1_000049 1/12512 0/8250 1/4262 - - - - - - -
?/? c.557C>T r.(?) p.(Ser186Leu) g.86399635G>A Copied from the Exome Variant Server GKAP1_000052 5/13000 5/8594 0/4406 - - - - - - -
?/? c.558G>A r.(=) p.(=) g.86399634C>T Copied from the Exome Variant Server GKAP1_000050 4/13000 0/8594 4/4406 - - - - - - -
?/? c.562+7T>C r.(=) p.(=) g.86399623A>G Copied from the Exome Variant Server GKAP1_000048 262/13000 1/8594 261/4406 - - - - - - -
?/? c.562+15A>G r.(=) p.(=) g.86399615T>C Copied from the Exome Variant Server GKAP1_000047 42/12998 0/8592 42/4406 - - - - - - -
?/? c.562+39T>A r.(=) p.(=) g.86399591A>T Copied from the Exome Variant Server GKAP1_000046 2/12996 0/8590 2/4406 - - - - - - -
?/? c.562+42A>G r.(=) p.(=) g.86399588T>C Copied from the Exome Variant Server GKAP1_000045 1/12996 0/8590 1/4406 - - - - - - -
?/? c.562+44A>T r.(=) p.(=) g.86399586T>A Copied from the Exome Variant Server GKAP1_000044 1/12996 1/8590 0/4406 - - - - - - -
?/? c.563-61_563-59del r.(=) p.(=) g.86395378_86395380del Copied from the Exome Variant Server GKAP1_000043 720/12078 432/8026 288/4052 - - - - - - -
?/? c.563-35A>G r.(=) p.(=) g.86395354T>C Copied from the Exome Variant Server GKAP1_000042 8/12882 3/8536 5/4346 - - - - - - -
?/? c.563-25A>G r.(=) p.(=) g.86395344T>C Copied from the Exome Variant Server GKAP1_000041 36/12912 34/8550 2/4362 - - - - - - -
?/? c.563-8A>G r.(=) p.(=) g.86395327T>C Copied from the Exome Variant Server GKAP1_000040 18/12948 0/8568 18/4380 - - - - - - -
?/? c.585+15A>G r.(=) p.(=) g.86395282T>C Copied from the Exome Variant Server GKAP1_000039 1/12972 1/8572 0/4400 - - - - - - -
?/? c.585+39G>A r.(=) p.(=) g.86395258C>T Copied from the Exome Variant Server GKAP1_000038 1/12950 1/8558 0/4392 - - - - - - -
?/? c.586-42G>A r.(=) p.(=) g.86383927C>T Copied from the Exome Variant Server GKAP1_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.586-41T>A r.(=) p.(=) g.86383926A>T Copied from the Exome Variant Server GKAP1_000036 2/13006 0/8600 2/4406 - - - - - - -
?/? c.586-26A>G r.(=) p.(=) g.86383911T>C Copied from the Exome Variant Server GKAP1_000035 1/13004 1/8598 0/4406 - - - - - - -
?/? c.586-23A>C r.(=) p.(=) g.86383908T>G Copied from the Exome Variant Server GKAP1_000034 2/13000 0/8596 2/4404 - - - - - - -
?/? c.586-18G>T r.(=) p.(=) g.86383903C>A Copied from the Exome Variant Server GKAP1_000033 1/13000 0/8594 1/4406 - - - - - - -
?/? c.598_600del r.(?) p.(Ser200del) g.86383871_86383873del Copied from the Exome Variant Server GKAP1_000032 1/12510 1/8248 0/4262 - - - - - - -
?/? c.677G>A r.(?) p.(Arg226Gln) g.86383794C>T Copied from the Exome Variant Server GKAP1_000031 1/13004 0/8598 1/4406 - - - - - - -
?/? c.728A>T r.(?) p.(Glu243Val) g.86383743T>A Copied from the Exome Variant Server GKAP1_000030 1/13002 0/8596 1/4406 - - - - - - -
?/? c.731A>G r.(?) p.(His244Arg) g.86383740T>C Copied from the Exome Variant Server GKAP1_000029 3/13002 0/8596 3/4406 - - - - - - -
?/? c.734A>G r.(?) p.(Asn245Ser) g.86383737T>C Copied from the Exome Variant Server GKAP1_000028 1/13002 0/8596 1/4406 - - - - - - -
?/? c.738+4T>C r.spl? p.? g.86383729A>G Copied from the Exome Variant Server GKAP1_000027 17/13002 16/8598 1/4404 - - - - - - -
?/? c.738+31A>G r.(=) p.(=) g.86383702T>C Copied from the Exome Variant Server GKAP1_000026 1/13000 0/8594 1/4406 - - - - - - -
?/? c.739-41G>A r.(=) p.(=) g.86368315C>T Copied from the Exome Variant Server GKAP1_000025 3/12998 3/8592 0/4406 - - - - - - -
?/? c.795A>G r.(=) p.(=) g.86368218T>C Copied from the Exome Variant Server GKAP1_000024 3/13002 0/8596 3/4406 - - - - - - -
?/? c.840+26A>C r.(=) p.(=) g.86368147T>G Copied from the Exome Variant Server GKAP1_000023 1/12996 0/8592 1/4404 - - - - - - -
?/? c.840+37C>A r.(=) p.(=) g.86368136G>T Copied from the Exome Variant Server GKAP1_000022 1/12994 1/8590 0/4404 - - - - - - -
?/? c.840+51G>A r.(=) p.(=) g.86368122C>T Copied from the Exome Variant Server GKAP1_000021 127/12992 0/8590 127/4402 - - - - - - -
?/? c.841-39_841-36del r.(=) p.(=) g.86363323_86363326del Copied from the Exome Variant Server GKAP1_000020 1/12428 0/8188 1/4240 - - - - - - -
?/? c.841-22A>G r.(=) p.(=) g.86363309T>C Copied from the Exome Variant Server GKAP1_000019 1/12940 0/8542 1/4398 - - - - - - -
?/? c.873A>C r.(=) p.(=) g.86363255T>G Copied from the Exome Variant Server GKAP1_000018 2/12992 2/8592 0/4400 - - - - - - -
?/? c.876A>G r.(=) p.(=) g.86363252T>C Copied from the Exome Variant Server GKAP1_000017 2/12992 2/8592 0/4400 - - - - - - -
?/? c.904+16G>C r.(=) p.(=) g.86363208C>G Copied from the Exome Variant Server GKAP1_000016 2/12972 0/8578 2/4394 - - - - - - -
?/? c.904+21T>G r.(=) p.(=) g.86363203A>C Copied from the Exome Variant Server GKAP1_000015 1/12972 0/8578 1/4394 - - - - - - -
?/? c.905-51A>G r.(=) p.(=) g.86357566T>C Copied from the Exome Variant Server GKAP1_000014 2/13004 0/8598 2/4406 - - - - - - -
?/? c.905-25A>G r.(=) p.(=) g.86357540T>C Copied from the Exome Variant Server GKAP1_000013 2/13006 2/8600 0/4406 - - - - - - -
?/? c.905-24C>T r.(=) p.(=) g.86357539G>A Copied from the Exome Variant Server GKAP1_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.975+22A>G r.(=) p.(=) g.86357423T>C Copied from the Exome Variant Server GKAP1_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.975+28G>A r.(=) p.(=) g.86357417C>T Copied from the Exome Variant Server GKAP1_000010 2/13006 2/8600 0/4406 - - - - - - -
?/? c.975+29G>A r.(=) p.(=) g.86357416C>T Copied from the Exome Variant Server GKAP1_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.976-55_976-52del r.(=) p.(=) g.86356996_86356999del Copied from the Exome Variant Server GKAP1_000008 11/12462 3/8212 8/4250 - - - - - - -
?/? c.976-35A>C r.(=) p.(=) g.86356979T>G Copied from the Exome Variant Server GKAP1_000007 34/12966 1/8566 33/4400 - - - - - - -
?/? c.976-12A>G r.(=) p.(=) g.86356956T>C Copied from the Exome Variant Server GKAP1_000006 5/12982 0/8578 5/4404 - - - - - - -
?/? c.981T>C r.(=) p.(=) g.86356939A>G Copied from the Exome Variant Server GKAP1_000005 3/12984 0/8580 3/4404 - - - - - - -
?/? c.1023A>G r.(=) p.(=) g.86356897T>C Copied from the Exome Variant Server GKAP1_000004 1/12996 1/8592 0/4404 - - - - - - -
?/? c.1046A>G r.(?) p.(Lys349Arg) g.86356874T>C Copied from the Exome Variant Server GKAP1_000003 1/12992 1/8588 0/4404 - - - - - - -
?/? c.1086C>T r.(=) p.(=) g.86354627G>A Copied from the Exome Variant Server GKAP1_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*26A>G r.(=) p.(=) g.86354586T>C Copied from the Exome Variant Server GKAP1_000001 5/13006 4/8600 1/4406 - - - - - - -
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