Full data view for gene KCNV2

Information The variants shown are described using the NM_133497.3 transcript reference sequence.

129 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-42C>G r.(=) p.(=) g.2717698C>G Copied from the Exome Variant Server KCNV2_000001 7670/13006 4797/8600 2873/4406 - - - - - - -
?/? c.-36C>T r.(=) p.(=) g.2717704C>T Copied from the Exome Variant Server KCNV2_000002 2/13006 0/8600 2/4406 - - - - - - -
?/? c.-34G>A r.(=) p.(=) g.2717706G>A Copied from the Exome Variant Server KCNV2_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-15C>T r.(=) p.(=) g.2717725C>T Copied from the Exome Variant Server KCNV2_000004 13/13006 12/8600 1/4406 - - - - - - -
?/? c.-8C>T r.(=) p.(=) g.2717732C>T Copied from the Exome Variant Server KCNV2_000005 6/13006 0/8600 6/4406 - - - - - - -
?/? c.-6G>A r.(=) p.(=) g.2717734G>A Copied from the Exome Variant Server KCNV2_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-2C>T r.(=) p.(=) g.2717738C>T Copied from the Exome Variant Server KCNV2_000007 29/13006 0/8600 29/4406 - - - - - - -
?/? c.15T>C r.(=) p.(=) g.2717754T>C Copied from the Exome Variant Server KCNV2_000008 2/13006 2/8600 0/4406 - - - - - - -
?/? c.16G>C r.(?) p.(Glu6Gln) g.2717755G>C Copied from the Exome Variant Server KCNV2_000009 4/13006 0/8600 4/4406 - - - - - - -
?/? c.20G>A r.(?) p.(Arg7Lys) g.2717759G>A Copied from the Exome Variant Server KCNV2_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.48G>C r.(?) p.(Trp16Cys) g.2717787G>C Copied from the Exome Variant Server KCNV2_000011 10/13006 0/8600 10/4406 - - - - - - -
?/? c.57G>A r.(=) p.(=) g.2717796G>A Copied from the Exome Variant Server KCNV2_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.58G>A r.(?) p.(Glu20Lys) g.2717797G>A Copied from the Exome Variant Server KCNV2_000013 27/13006 0/8600 27/4406 - - - - - - -
?/? c.85A>G r.(?) p.(Ser29Gly) g.2717824A>G Copied from the Exome Variant Server KCNV2_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.121G>A r.(?) p.(Ala41Thr) g.2717860G>A Copied from the Exome Variant Server KCNV2_000015 5/13006 0/8600 5/4406 - - - - - - -
?/? c.136T>C r.(?) p.(Trp46Arg) g.2717875T>C Copied from the Exome Variant Server KCNV2_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.140C>T r.(?) p.(Thr47Ile) g.2717879C>T Copied from the Exome Variant Server KCNV2_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.144G>A r.(=) p.(=) g.2717883G>A Copied from the Exome Variant Server KCNV2_000018 33/13006 0/8600 33/4406 - - - - - - -
?/? c.160T>C r.(?) p.(Tyr54His) g.2717899T>C Copied from the Exome Variant Server KCNV2_000019 3/13006 2/8600 1/4406 - - - - - - -
?/? c.183C>G r.(=) p.(=) g.2717922C>G Copied from the Exome Variant Server KCNV2_000020 7647/13006 4850/8600 2797/4406 - - - - - - -
?/? c.187G>A r.(?) p.(Glu63Lys) g.2717926G>A Copied from the Exome Variant Server KCNV2_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.207C>T r.(=) p.(=) g.2717946C>T Copied from the Exome Variant Server KCNV2_000022 17/13006 0/8600 17/4406 - - - - - - -
?/? c.222G>C r.(?) p.(Glu74Asp) g.2717961G>C Copied from the Exome Variant Server KCNV2_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.240G>A r.(=) p.(=) g.2717979G>A Copied from the Exome Variant Server KCNV2_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.245C>T r.(?) p.(Thr82Ile) g.2717984C>T Copied from the Exome Variant Server KCNV2_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.250G>T r.(?) p.(Ala84Ser) g.2717989G>T Copied from the Exome Variant Server KCNV2_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.258C>G r.(=) p.(=) g.2717997C>G Copied from the Exome Variant Server KCNV2_000027 6/13004 5/8598 1/4406 - - - - - - -
?/? c.270C>T r.(=) p.(=) g.2718009C>T Copied from the Exome Variant Server KCNV2_000028 1/12998 0/8594 1/4404 - - - - - - -
?/? c.280G>A r.(?) p.(Ala94Thr) g.2718019G>A Copied from the Exome Variant Server KCNV2_000029 2/12990 2/8590 0/4400 - - - - - - -
?/? c.291C>T r.(=) p.(=) g.2718030C>T Copied from the Exome Variant Server KCNV2_000030 25/12992 0/8592 25/4400 - - - - - - -
?/? c.293C>G r.(?) p.(Thr98Arg) g.2718032C>G Copied from the Exome Variant Server KCNV2_000031 1/12992 1/8592 0/4400 - - - - - - -
?/? c.312T>C r.(=) p.(=) g.2718051T>C Copied from the Exome Variant Server KCNV2_000032 72/12994 0/8594 72/4400 - - - - - - -
?/? c.326A>G r.(?) p.(Gln109Arg) g.2718065A>G Copied from the Exome Variant Server KCNV2_000033 5/12988 5/8594 0/4394 - - - - - - -
?/? c.328C>G r.(?) p.(Leu110Val) g.2718067C>G Copied from the Exome Variant Server KCNV2_000034 1/12988 1/8592 0/4396 - - - - - - -
?/? c.339C>A r.(?) p.(Cys113*) g.2718078C>A Copied from the Exome Variant Server KCNV2_000035 1/12982 1/8586 0/4396 - - - - - - -
?/? c.349G>A r.(?) p.(Gly117Ser) g.2718088G>A Copied from the Exome Variant Server KCNV2_000036 2/12978 1/8586 1/4392 - - - - - - -
?/? c.391A>G r.(?) p.(Ser131Gly) g.2718130A>G Copied from the Exome Variant Server KCNV2_000037 3/12952 0/8570 3/4382 - - - - - - -
?/? c.399C>T r.(=) p.(=) g.2718138C>T Copied from the Exome Variant Server KCNV2_000038 1/12968 1/8578 0/4390 - - - - - - -
?/? c.441C>A r.(?) p.(Asp147Glu) g.2718180C>A Copied from the Exome Variant Server KCNV2_000039 4/13000 4/8596 0/4404 - - - - - - -
?/? c.442G>A r.(?) p.(Glu148Lys) g.2718181G>A Copied from the Exome Variant Server KCNV2_000040 2/13000 0/8596 2/4404 - - - - - - -
?/? c.454G>C r.(?) p.(Asp152His) g.2718193G>C Copied from the Exome Variant Server KCNV2_000041 1/13002 1/8598 0/4404 - - - - - - -
?/? c.465G>A r.(=) p.(=) g.2718204G>A Copied from the Exome Variant Server KCNV2_000042 1/13004 1/8600 0/4404 - - - - - - -
?/? c.485A>T r.(?) p.(Tyr162Phe) g.2718224A>T Copied from the Exome Variant Server KCNV2_000044 2/13004 2/8600 0/4404 - - - - - - -
?/? c.525G>A r.(=) p.(=) g.2718264G>A Copied from the Exome Variant Server KCNV2_000046 1/12998 1/8598 0/4400 - - - - - - -
?/? c.533C>T r.(?) p.(Pro178Leu) g.2718272C>T Copied from the Exome Variant Server KCNV2_000048 2/12996 2/8596 0/4400 - - - - - - -
?/? c.585G>C r.(=) p.(=) g.2718324G>C Copied from the Exome Variant Server KCNV2_000050 1/12874 1/8522 0/4352 - - - - - - -
?/? c.610G>A r.(?) p.(Glu204Lys) g.2718349G>A Copied from the Exome Variant Server KCNV2_000043 15/12486 0/8284 15/4202 - - - - - - -
?/? c.612G>A r.(=) p.(=) g.2718351G>A Copied from the Exome Variant Server KCNV2_000045 6/12540 0/8318 6/4222 - - - - - - -
?/? c.616C>A r.(=) p.(=) g.2718355C>A Copied from the Exome Variant Server KCNV2_000047 2/12572 0/8354 2/4218 - - - - - - -
?/? c.642C>G r.(=) p.(=) g.2718381C>G Copied from the Exome Variant Server KCNV2_000049 1/12740 0/8442 1/4298 - - - - - - -
?/? c.654C>T r.(=) p.(=) g.2718393C>T Copied from the Exome Variant Server KCNV2_000051 13/12700 0/8414 13/4286 - - - - - - -
?/? c.661C>T r.(?) p.(Arg221Cys) g.2718400C>T Copied from the Exome Variant Server KCNV2_000052 1/12652 1/8374 0/4278 - - - - - - -
?/? c.676G>A r.(?) p.(Val226Ile) g.2718415G>A Copied from the Exome Variant Server KCNV2_000053 99/12674 1/8382 98/4292 - - - - - - -
?/? c.687G>T r.(=) p.(=) g.2718426G>T Copied from the Exome Variant Server KCNV2_000054 1/12718 0/8444 1/4274 - - - - - - -
?/? c.694C>A r.(?) p.(Leu232Ile) g.2718433C>A Copied from the Exome Variant Server KCNV2_000055 1/12734 0/8442 1/4292 - - - - - - -
?/? c.701G>A r.(?) p.(Arg234His) g.2718440G>A Copied from the Exome Variant Server KCNV2_000056 1/12692 1/8410 0/4282 - - - - - - -
?/? c.703G>T r.(?) p.(Asp235Tyr) g.2718442G>T Copied from the Exome Variant Server KCNV2_000057 1/12676 0/8390 1/4286 - - - - - - -
?/? c.706A>G r.(?) p.(Met236Val) g.2718445A>G Copied from the Exome Variant Server KCNV2_000058 1/12700 0/8410 1/4290 - - - - - - -
?/? c.727C>T r.(?) p.(Arg243Trp) g.2718466C>T Copied from the Exome Variant Server KCNV2_000059 1/12604 1/8358 0/4246 - - - - - - -
?/? c.742A>T r.(?) p.(Asn248Tyr) g.2718481A>T Copied from the Exome Variant Server KCNV2_000061 1/12622 1/8372 0/4250 - - - - - - -
?/? c.756G>A r.(=) p.(=) g.2718495G>A Copied from the Exome Variant Server KCNV2_000063 7/12764 0/8444 7/4320 - - - - - - -
?/? c.759A>G r.(=) p.(=) g.2718498A>G Copied from the Exome Variant Server KCNV2_000065 1212/12816 881/8480 331/4336 - - - - - - -
?/? c.762C>G r.(?) p.(Phe254Leu) g.2718501C>G Copied from the Exome Variant Server KCNV2_000067 13/12812 13/8474 0/4338 - - - - - - -
?/? c.778A>T r.(?) p.(Lys260*) g.2718517A>T Copied from the Exome Variant Server KCNV2_000069 2/12890 2/8536 0/4354 - - - - - - -
?/? c.784A>G r.(?) p.(Ile262Val) g.2718523A>G Copied from the Exome Variant Server KCNV2_000071 2/12896 0/8542 2/4354 - - - - - - -
?/? c.795C>G r.(=) p.(=) g.2718534C>G Copied from the Exome Variant Server KCNV2_000073 5636/12938 3975/8564 1661/4374 - - - - - - -
?/? c.805T>G r.(?) p.(Phe269Val) g.2718544T>G Copied from the Exome Variant Server KCNV2_000075 1/12954 0/8576 1/4378 - - - - - - -
?/? c.807C>T r.(=) p.(=) g.2718546C>T Copied from the Exome Variant Server KCNV2_000077 1/12950 0/8570 1/4380 - - - - - - -
?/? c.822G>A r.(=) p.(=) g.2718561G>A Copied from the Exome Variant Server KCNV2_000079 1/12982 0/8584 1/4398 - - - - - - -
?/? c.827C>T r.(?) p.(Ala276Val) g.2718566C>T Copied from the Exome Variant Server KCNV2_000081 1/12976 0/8580 1/4396 - - - - - - -
?/? c.828G>A r.(=) p.(=) g.2718567G>A Copied from the Exome Variant Server KCNV2_000083 7/12980 7/8580 0/4400 - - - - - - -
?/? c.833C>T r.(?) p.(Ala278Val) g.2718572C>T Copied from the Exome Variant Server KCNV2_000060 4/12986 0/8588 4/4398 - - - - - - -
?/? c.849G>A r.(=) p.(=) g.2718588G>A Copied from the Exome Variant Server KCNV2_000062 92/12974 90/8582 2/4392 - - - - - - -
?/? c.854T>G r.(?) p.(Met285Arg) g.2718593T>G Copied from the Exome Variant Server KCNV2_000064 73/12978 0/8584 73/4394 - - - - - - -
?/? c.873G>A r.(=) p.(=) g.2718612G>A Copied from the Exome Variant Server KCNV2_000066 1/12984 0/8584 1/4400 - - - - - - -
?/? c.874G>A r.(?) p.(Gly292Ser) g.2718613G>A Copied from the Exome Variant Server KCNV2_000068 1/12984 1/8584 0/4400 - - - - - - -
?/? c.881G>A r.(?) p.(Gly294Asp) g.2718620G>A Copied from the Exome Variant Server KCNV2_000070 2/12984 0/8584 2/4400 - - - - - - -
?/? c.912C>T r.(=) p.(=) g.2718651C>T Copied from the Exome Variant Server KCNV2_000072 1/13000 0/8598 1/4402 - - - - - - -
?/? c.913G>A r.(?) p.(Val305Met) g.2718652G>A Copied from the Exome Variant Server KCNV2_000074 1/13000 1/8598 0/4402 - - - - - - -
?/? c.915G>A r.(=) p.(=) g.2718654G>A Copied from the Exome Variant Server KCNV2_000076 609/13000 429/8598 180/4402 - - - - - - -
?/? c.948G>C r.(?) p.(Glu316Asp) g.2718687G>C Copied from the Exome Variant Server KCNV2_000078 1/13004 1/8598 0/4406 - - - - - - -
?/? c.957G>A r.(=) p.(=) g.2718696G>A Copied from the Exome Variant Server KCNV2_000080 31/13004 0/8598 31/4406 - - - - - - -
?/? c.964G>C r.(?) p.(Ala322Pro) g.2718703G>C Copied from the Exome Variant Server KCNV2_000082 1/13004 1/8598 0/4406 - - - - - - -
?/? c.971C>A r.(?) p.(Thr324Lys) g.2718710C>A Copied from the Exome Variant Server KCNV2_000084 1/13004 1/8598 0/4406 - - - - - - -
?/? c.978C>T r.(=) p.(=) g.2718717C>T Copied from the Exome Variant Server KCNV2_000085 669/13000 382/8594 287/4406 - - - - - - -
?/? c.1026C>T r.(=) p.(=) g.2718765C>T Copied from the Exome Variant Server KCNV2_000086 26/12998 0/8592 26/4406 - - - - - - -
?/? c.1057G>A r.(?) p.(Glu353Lys) g.2718796G>A Copied from the Exome Variant Server KCNV2_000087 1/12990 1/8586 0/4404 - - - - - - -
?/? c.1072G>A r.(?) p.(Glu358Lys) g.2718811G>A Copied from the Exome Variant Server KCNV2_000088 1/12992 1/8586 0/4406 - - - - - - -
?/? c.1083A>G r.(=) p.(=) g.2718822A>G Copied from the Exome Variant Server KCNV2_000089 107/13000 102/8594 5/4406 - - - - - - -
?/? c.1099G>C r.(?) p.(Gly367Arg) g.2718838G>C Copied from the Exome Variant Server KCNV2_000090 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1118G>C r.(?) p.(Gly373Ala) g.2718857G>C Copied from the Exome Variant Server KCNV2_000091 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1122G>A r.(=) p.(=) g.2718861G>A Copied from the Exome Variant Server KCNV2_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1129C>T r.(?) p.(Arg377Cys) g.2718868C>T Copied from the Exome Variant Server KCNV2_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1135A>G r.(?) p.(Met379Val) g.2718874A>G Copied from the Exome Variant Server KCNV2_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1141C>G r.(?) p.(Leu381Val) g.2718880C>G Copied from the Exome Variant Server KCNV2_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1148G>T r.(?) p.(Arg383Leu) g.2718887G>T Copied from the Exome Variant Server KCNV2_000096 9/13006 8/8600 1/4406 - - - - - - -
?/? c.1164C>T r.(=) p.(=) g.2718903C>T Copied from the Exome Variant Server KCNV2_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1166A>C r.(?) p.(Lys389Thr) g.2718905A>C Copied from the Exome Variant Server KCNV2_000098 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1167G>C r.(?) p.(Lys389Asn) g.2718906G>C Copied from the Exome Variant Server KCNV2_000099 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1186G>T r.(?) p.(Gly396*) g.2718925G>T Copied from the Exome Variant Server KCNV2_000100 1/13006 1/8600 0/4406 - - - - - - -
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