Unique variants in gene KCNC3

Information The variants shown are described using the NM_004977.2 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.315G>C r.(=) p.(=) g.50832025C>G Copied from the Exome Variant Server KCNC3_000070 10/12248 9/8126 1/4122
1 c.474C>T r.(=) p.(=) g.50831866G>A Copied from the Exome Variant Server KCNC3_000069 4/13000 0/8596 4/4404
1 c.534G>A r.(=) p.(=) g.50831806C>T Copied from the Exome Variant Server KCNC3_000068 1/13000 0/8594 1/4406
1 c.579C>G r.(=) p.(=) g.50831761G>C Copied from the Exome Variant Server KCNC3_000067 4/12982 3/8584 1/4398
1 c.606C>G r.(?) p.(Phe202Leu) g.50831734G>C Copied from the Exome Variant Server KCNC3_000066 1/12858 1/8520 0/4338
1 c.649G>A r.(?) p.(Ala217Thr) g.50831691C>T Copied from the Exome Variant Server KCNC3_000065 19/9580 2/6556 17/3024
1 c.871-21C>G r.(=) p.(=) g.50827360G>C Copied from the Exome Variant Server KCNC3_000064 242/13006 1/8600 241/4406
1 c.871-4G>T r.spl? p.? g.50827343C>A Copied from the Exome Variant Server KCNC3_000063 3/13006 0/8600 3/4406
1 c.951T>C r.(=) p.(=) g.50827259A>G Copied from the Exome Variant Server KCNC3_000062 2/13006 2/8600 0/4406
1 c.984G>A r.(=) p.(=) g.50827226C>T Copied from the Exome Variant Server KCNC3_000061 66/13006 0/8600 66/4406
1 c.990C>T r.(=) p.(=) g.50827220G>A Copied from the Exome Variant Server KCNC3_000060 8/13006 0/8600 8/4406
1 c.1002G>A r.(=) p.(=) g.50827208C>T Copied from the Exome Variant Server KCNC3_000059 3/13006 2/8600 1/4406
1 c.1018G>A r.(?) p.(Val340Met) g.50827192C>T Copied from the Exome Variant Server KCNC3_000058 1/13006 0/8600 1/4406
1 c.1042C>T r.(=) p.(=) g.50827168G>A Copied from the Exome Variant Server KCNC3_000057 3/13006 0/8600 3/4406
1 c.1051G>A r.(?) p.(Val351Met) g.50827159C>T Copied from the Exome Variant Server KCNC3_000056 1/13006 0/8600 1/4406
1 c.1060G>T r.(?) p.(Val354Leu) g.50827150C>A Copied from the Exome Variant Server KCNC3_000055 1/13006 1/8600 0/4406
1 c.1080C>T r.(=) p.(=) g.50827130G>A Copied from the Exome Variant Server KCNC3_000054 16/13006 0/8600 16/4406
1 c.1110C>T r.(=) p.(=) g.50827100G>A Copied from the Exome Variant Server KCNC3_000053 1/13006 1/8600 0/4406
1 c.1152C>T r.(=) p.(=) g.50827058G>A Copied from the Exome Variant Server KCNC3_000052 1/13006 0/8600 1/4406
1 c.1164C>T r.(=) p.(=) g.50827046G>A Copied from the Exome Variant Server KCNC3_000051 1/13006 1/8600 0/4406
1 c.1194C>T r.(=) p.(=) g.50827016G>A Copied from the Exome Variant Server KCNC3_000050 1/13006 0/8600 1/4406
1 c.1215C>T r.(=) p.(=) g.50826995G>A Copied from the Exome Variant Server KCNC3_000049 18/13006 14/8600 4/4406
1 c.1224C>T r.(=) p.(=) g.50826986G>A Copied from the Exome Variant Server KCNC3_000048 1/13006 1/8600 0/4406
1 c.1234T>G r.(?) p.(Phe412Val) g.50826976A>C Copied from the Exome Variant Server KCNC3_000047 1/13006 0/8600 1/4406
1 c.1254C>T r.(=) p.(=) g.50826956G>A Copied from the Exome Variant Server KCNC3_000046 1/13006 1/8600 0/4406
1 c.1257C>T r.(=) p.(=) g.50826953G>A Copied from the Exome Variant Server KCNC3_000045 1/13006 0/8600 1/4406
1 c.1260C>T r.(=) p.(=) g.50826950G>A Copied from the Exome Variant Server KCNC3_000044 1/13006 0/8600 1/4406
1 c.1305C>T r.(=) p.(=) g.50826905G>A Copied from the Exome Variant Server KCNC3_000043 1/13006 0/8600 1/4406
1 c.1311G>A r.(=) p.(=) g.50826899C>T Copied from the Exome Variant Server KCNC3_000042 1/13006 0/8600 1/4406
1 c.1326C>T r.(=) p.(=) g.50826884G>A Copied from the Exome Variant Server KCNC3_000041 2/13006 0/8600 2/4406
1 c.1318_1328del r.(?) p.(Thr440Glnfs*27) g.50826882_50826892del Copied from the Exome Variant Server KCNC3_000040 1/12518 0/8254 1/4264
1 c.1338C>T r.(=) p.(=) g.50826872G>A Copied from the Exome Variant Server KCNC3_000039 1/13006 0/8600 1/4406
1 c.1356C>T r.(=) p.(=) g.50826854G>A Copied from the Exome Variant Server KCNC3_000038 1/13006 0/8600 1/4406
1 c.1404C>T r.(=) p.(=) g.50826806G>A Copied from the Exome Variant Server KCNC3_000037 39/13006 4/8600 35/4406
1 c.1405G>A r.(?) p.(Ala469Thr) g.50826805C>T Copied from the Exome Variant Server KCNC3_000036 1/13006 0/8600 1/4406
1 c.1421C>T r.(?) p.(Ala474Val) g.50826789G>A Copied from the Exome Variant Server KCNC3_000035 1/13006 0/8600 1/4406
1 c.1423G>A r.(?) p.(Asp475Asn) g.50826787C>T Copied from the Exome Variant Server KCNC3_000034 1/13006 1/8600 0/4406
1 c.1429G>A r.(?) p.(Asp477Asn) g.50826781C>T Copied from the Exome Variant Server KCNC3_000033 2/13006 2/8600 0/4406
1 c.1545G>A r.(=) p.(=) g.50826665C>T Copied from the Exome Variant Server KCNC3_000032 1/13006 1/8600 0/4406
1 c.1557C>T r.(=) p.(=) g.50826653G>A Copied from the Exome Variant Server KCNC3_000031 1/13006 1/8600 0/4406
1 c.1563G>A r.(=) p.(=) g.50826647C>T Copied from the Exome Variant Server KCNC3_000030 69/13006 1/8600 68/4406
1 c.1608C>T r.(=) p.(=) g.50826602G>A Copied from the Exome Variant Server KCNC3_000029 1/13006 0/8600 1/4406
1 c.1641G>A r.(=) p.(=) g.50826569C>T Copied from the Exome Variant Server KCNC3_000028 61/13006 34/8600 27/4406
1 c.1677_1679del r.(?) p.(Lys559del) g.50826531_50826533del Copied from the Exome Variant Server KCNC3_000027 5/12518 3/8254 2/4264
1 c.1689C>A r.(=) p.(=) g.50826521G>T Copied from the Exome Variant Server KCNC3_000026 2/13006 2/8600 0/4406
1 c.1701G>A r.(=) p.(=) g.50826509C>T Copied from the Exome Variant Server KCNC3_000025 1/12986 0/8586 1/4400
1 c.1929C>T r.(=) p.(=) g.50826281G>A Copied from the Exome Variant Server KCNC3_000024 148/11318 67/7468 81/3850
1 c.1978+3G>A r.spl? p.? g.50826229C>T Copied from the Exome Variant Server KCNC3_000023 14/11978 11/7928 3/4050
1 c.1978+22C>G r.(=) p.(=) g.50826210G>C Copied from the Exome Variant Server KCNC3_000022 38/11954 34/7912 4/4042
1 c.1979-34C>T r.(=) p.(=) g.50824075G>A Copied from the Exome Variant Server KCNC3_000021 3/13004 2/8598 1/4406
1 c.1979-10T>C r.(=) p.(=) g.50824051A>G Copied from the Exome Variant Server KCNC3_000020 1/13004 0/8598 1/4406
1 c.2012C>T r.(?) p.(Ala671Val) g.50824008G>A Copied from the Exome Variant Server KCNC3_000019 1/13006 1/8600 0/4406
1 c.2013G>A r.(=) p.(=) g.50824007C>T Copied from the Exome Variant Server KCNC3_000018 1/13006 1/8600 0/4406
1 c.2033C>G r.(?) p.(Pro678Arg) g.50823987G>C Copied from the Exome Variant Server KCNC3_000017 1/13006 1/8600 0/4406
1 c.2052C>G r.(=) p.(=) g.50823968G>C Copied from the Exome Variant Server KCNC3_000016 1/13006 0/8600 1/4406
1 c.2077A>C r.(?) p.(Ile693Leu) g.50823943T>G Copied from the Exome Variant Server KCNC3_000015 1/13006 1/8600 0/4406
1 c.2093G>A r.(?) p.(Arg698His) g.50823927C>T Copied from the Exome Variant Server KCNC3_000014 29/13006 0/8600 29/4406
1 c.2107C>T r.(?) p.(Arg703Trp) g.50823913G>A Copied from the Exome Variant Server KCNC3_000013 1/13004 1/8598 0/4406
1 c.2108G>A r.(?) p.(Arg703Gln) g.50823912C>T Copied from the Exome Variant Server KCNC3_000012 1/13004 1/8598 0/4406
1 c.2133C>T r.(=) p.(=) g.50823887G>A Copied from the Exome Variant Server KCNC3_000011 1/13004 0/8598 1/4406
1 c.2170+14C>T r.(=) p.(=) g.50823836G>A Copied from the Exome Variant Server KCNC3_000010 91/13004 84/8598 7/4406
1 c.2170+15_2170+16insC r.(=) p.(=) g.50823834_50823835insG Copied from the Exome Variant Server KCNC3_000009 35/12514 18/8252 17/4262
1 c.2170+25C>G r.(=) p.(=) g.50823825G>C Copied from the Exome Variant Server KCNC3_000008 4/12992 0/8592 4/4400
1 c.2170+42_2170+45del r.(=) p.(=) g.50823805_50823808del Copied from the Exome Variant Server KCNC3_000007 68/12304 1/8120 67/4184
1 c.2170+43_2170+46del r.(=) p.(=) g.50823804_50823807del Copied from the Exome Variant Server KCNC3_000006 75/12286 5/8108 70/4178
1 c.2171-26T>C r.(=) p.(=) g.50823632A>G Copied from the Exome Variant Server KCNC3_000005 97/6648 25/4646 72/2002
1 c.2171-25C>A r.(=) p.(=) g.50823631G>T Copied from the Exome Variant Server KCNC3_000003 19/6626 2/4632 17/1994
1 c.2171-9_2171-8insC r.(=) p.(=) g.50823614_50823615insG Copied from the Exome Variant Server KCNC3_000002 378/3720 304/2688 74/1032
1 c.2196C>T r.(=) p.(=) g.50823581G>A Copied from the Exome Variant Server KCNC3_000001 11/6840 1/4794 10/2046
1 c.*13del r.(=) p.(=) g.50823490del Copied from the Exome Variant Server KCNC3_000004 58/7794 7/5302 51/2492
Legend