Full data view for gene CATSPER3

Information The variants shown are described using the NM_178019.2 transcript reference sequence.

110 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-8T>C r.(=) p.(=) g.134303674T>C Copied from the Exome Variant Server CATSPER3_000001 1/13006 0/8600 1/4406 - - - - - - -
?/? c.13C>T r.(?) p.(Arg5Cys) g.134303694C>T Copied from the Exome Variant Server CATSPER3_000002 6/13006 0/8600 6/4406 - - - - - - -
?/? c.18C>T r.(=) p.(=) g.134303699C>T Copied from the Exome Variant Server CATSPER3_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.23G>A r.(?) p.(Arg8His) g.134303704G>A Copied from the Exome Variant Server CATSPER3_000004 2/13006 1/8600 1/4406 - - - - - - -
?/? c.29C>T r.(?) p.(Ser10Leu) g.134303710C>T Copied from the Exome Variant Server CATSPER3_000005 3/13006 0/8600 3/4406 - - - - - - -
?/? c.43A>G r.(?) p.(Ser15Gly) g.134303724A>G Copied from the Exome Variant Server CATSPER3_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.65C>T r.(?) p.(Ser22Leu) g.134303746C>T Copied from the Exome Variant Server CATSPER3_000007 6/13006 1/8600 5/4406 - - - - - - -
?/? c.66G>A r.(=) p.(=) g.134303747G>A Copied from the Exome Variant Server CATSPER3_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.98+8T>A r.(=) p.(=) g.134303787T>A Copied from the Exome Variant Server CATSPER3_000009 7/13006 0/8600 7/4406 - - - - - - -
?/? c.98+9T>G r.(=) p.(=) g.134303788T>G Copied from the Exome Variant Server CATSPER3_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.98+18C>A r.(=) p.(=) g.134303797C>A Copied from the Exome Variant Server CATSPER3_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.98+22T>C r.(=) p.(=) g.134303801T>C Copied from the Exome Variant Server CATSPER3_000012 71/13006 0/8600 71/4406 - - - - - - -
?/? c.98+43G>A r.(=) p.(=) g.134303822G>A Copied from the Exome Variant Server CATSPER3_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.99-12A>G r.(=) p.(=) g.134305617A>G Copied from the Exome Variant Server CATSPER3_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.116G>A r.(?) p.(Cys39Tyr) g.134305646G>A Copied from the Exome Variant Server CATSPER3_000015 71/13006 0/8600 71/4406 - - - - - - -
?/? c.123A>G r.(=) p.(=) g.134305653A>G Copied from the Exome Variant Server CATSPER3_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.185C>T r.(?) p.(Ser62Leu) g.134305715C>T Copied from the Exome Variant Server CATSPER3_000017 6/13006 0/8600 6/4406 - - - - - - -
?/? c.192G>A r.(=) p.(=) g.134305722G>A Copied from the Exome Variant Server CATSPER3_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.193T>C r.(?) p.(Phe65Leu) g.134305723T>C Copied from the Exome Variant Server CATSPER3_000019 6/13006 0/8600 6/4406 - - - - - - -
?/? c.213C>T r.(=) p.(=) g.134305743C>T Copied from the Exome Variant Server CATSPER3_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.223A>G r.(?) p.(Ile75Val) g.134305753A>G Copied from the Exome Variant Server CATSPER3_000021 2/13006 0/8600 2/4406 - - - - - - -
?/? c.248T>C r.(?) p.(Leu83Pro) g.134305778T>C Copied from the Exome Variant Server CATSPER3_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.252G>A r.(=) p.(=) g.134305782G>A Copied from the Exome Variant Server CATSPER3_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.252+1G>A r.spl? p.? g.134305783G>A Copied from the Exome Variant Server CATSPER3_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.252+17G>A r.(=) p.(=) g.134305799G>A Copied from the Exome Variant Server CATSPER3_000025 65/13006 58/8600 7/4406 - - - - - - -
?/? c.253-46G>C r.(=) p.(=) g.134331917G>C Copied from the Exome Variant Server CATSPER3_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.253-44T>C r.(=) p.(=) g.134331919T>C Copied from the Exome Variant Server CATSPER3_000028 2/13006 0/8600 2/4406 - - - - - - -
?/? c.253-42T>G r.(=) p.(=) g.134331921T>G Copied from the Exome Variant Server CATSPER3_000030 3301/13006 2608/8600 693/4406 - - - - - - -
?/? c.253-27C>A r.(=) p.(=) g.134331936C>A Copied from the Exome Variant Server CATSPER3_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.361A>G r.(?) p.(Ile121Val) g.134332071A>G Copied from the Exome Variant Server CATSPER3_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.364A>G r.(?) p.(Ile122Val) g.134332074A>G Copied from the Exome Variant Server CATSPER3_000035 6/13006 0/8600 6/4406 - - - - - - -
?/? c.370G>A r.(?) p.(Val124Ile) g.134332080G>A Copied from the Exome Variant Server CATSPER3_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.395G>T r.(?) p.(Arg132Leu) g.134332105G>T Copied from the Exome Variant Server CATSPER3_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.402C>G r.(=) p.(=) g.134332112C>G Copied from the Exome Variant Server CATSPER3_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.405G>A r.(?) p.(Met135Ile) g.134332115G>A Copied from the Exome Variant Server CATSPER3_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.406G>A r.(?) p.(Gly136Ser) g.134332116G>A Copied from the Exome Variant Server CATSPER3_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.418A>G r.(?) p.(Thr140Ala) g.134332128A>G Copied from the Exome Variant Server CATSPER3_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.433G>A r.(?) p.(Ala145Thr) g.134332143G>A Copied from the Exome Variant Server CATSPER3_000038 284/13006 264/8600 20/4406 - - - - - - -
?/? c.471C>T r.(=) p.(=) g.134332181C>T Copied from the Exome Variant Server CATSPER3_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.476A>G r.(?) p.(Tyr159Cys) g.134332186A>G Copied from the Exome Variant Server CATSPER3_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.492+18G>A r.(=) p.(=) g.134332220G>A Copied from the Exome Variant Server CATSPER3_000041 2/13006 0/8600 2/4406 - - - - - - -
?/? c.492+26G>A r.(=) p.(=) g.134332228G>A Copied from the Exome Variant Server CATSPER3_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.504C>T r.(=) p.(=) g.134343658C>T Copied from the Exome Variant Server CATSPER3_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.507C>T r.(=) p.(=) g.134343661C>T Copied from the Exome Variant Server CATSPER3_000044 4398/13006 3585/8600 813/4406 - - - - - - -
?/? c.508G>A r.(?) p.(Val170Met) g.134343662G>A Copied from the Exome Variant Server CATSPER3_000045 171/13006 148/8600 23/4406 - - - - - - -
?/? c.574G>A r.(?) p.(Ala192Thr) g.134343728G>A Copied from the Exome Variant Server CATSPER3_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.581T>G r.(?) p.(Leu194Trp) g.134343735T>G Copied from the Exome Variant Server CATSPER3_000047 2/13006 2/8600 0/4406 - - - - - - -
?/? c.605C>T r.(?) p.(Pro202Leu) g.134343759C>T Copied from the Exome Variant Server CATSPER3_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.612T>G r.(?) p.(Asn204Lys) g.134343766T>G Copied from the Exome Variant Server CATSPER3_000049 1782/13006 24/8600 1758/4406 - - - - - - -
?/? c.617A>C r.(?) p.(Asp206Ala) g.134343771A>C Copied from the Exome Variant Server CATSPER3_000050 10/13006 0/8600 10/4406 - - - - - - -
?/? c.636C>T r.(=) p.(=) g.134343790C>T Copied from the Exome Variant Server CATSPER3_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.645A>G r.(=) p.(=) g.134343799A>G Copied from the Exome Variant Server CATSPER3_000052 5118/13006 2576/8600 2542/4406 - - - - - - -
?/? c.675+1G>A r.spl? p.? g.134343830G>A Copied from the Exome Variant Server CATSPER3_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.676-34T>C r.(=) p.(=) g.134344497T>C Copied from the Exome Variant Server CATSPER3_000054 11982/13006 7692/8600 4290/4406 - - - - - - -
?/? c.676-21T>C r.(=) p.(=) g.134344510T>C Copied from the Exome Variant Server CATSPER3_000055 3/13006 3/8600 0/4406 - - - - - - -
?/? c.676-7T>C r.(=) p.(=) g.134344524T>C Copied from the Exome Variant Server CATSPER3_000056 3/13006 3/8600 0/4406 - - - - - - -
?/? c.686G>A r.(?) p.(Trp229*) g.134344541G>A Copied from the Exome Variant Server CATSPER3_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.713A>G r.(?) p.(Asn238Ser) g.134344568A>G Copied from the Exome Variant Server CATSPER3_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.715C>T r.(?) p.(Arg239Trp) g.134344570C>T Copied from the Exome Variant Server CATSPER3_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.716G>A r.(?) p.(Arg239Gln) g.134344571G>A Copied from the Exome Variant Server CATSPER3_000060 17/13006 0/8600 17/4406 - - - - - - -
?/? c.718G>A r.(?) p.(Glu240Lys) g.134344573G>A Copied from the Exome Variant Server CATSPER3_000061 28/13006 0/8600 28/4406 - - - - - - -
?/? c.733C>T r.(?) p.(Arg245Trp) g.134344588C>T Copied from the Exome Variant Server CATSPER3_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.745A>G r.(?) p.(Ile249Val) g.134344600A>G Copied from the Exome Variant Server CATSPER3_000063 2/13006 0/8600 2/4406 - - - - - - -
?/? c.762del r.(?) p.(Ala255Profs*12) g.134344617del Copied from the Exome Variant Server CATSPER3_000064 1/12518 1/8254 0/4264 - - - - - - -
?/? c.790G>A r.(?) p.(Val264Met) g.134344645G>A Copied from the Exome Variant Server CATSPER3_000065 2/13006 2/8600 0/4406 - - - - - - -
?/? c.816+35C>A r.(=) p.(=) g.134344706C>A Copied from the Exome Variant Server CATSPER3_000066 788/13006 6/8600 782/4406 - - - - - - -
?/? c.816+38G>A r.(=) p.(=) g.134344709G>A Copied from the Exome Variant Server CATSPER3_000067 1/13006 0/8600 1/4406 - - - - - - -
?/? c.816+43G>A r.(=) p.(=) g.134344714G>A Copied from the Exome Variant Server CATSPER3_000068 2/13004 0/8600 2/4404 - - - - - - -
?/? c.817-30G>A r.(=) p.(=) g.134345031G>A Copied from the Exome Variant Server CATSPER3_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.817-15C>T r.(=) p.(=) g.134345046C>T Copied from the Exome Variant Server CATSPER3_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.817-14G>A r.(=) p.(=) g.134345047G>A Copied from the Exome Variant Server CATSPER3_000071 2/13006 2/8600 0/4406 - - - - - - -
?/? c.818A>G r.(?) p.(Asp273Gly) g.134345062A>G Copied from the Exome Variant Server CATSPER3_000072 29/13006 26/8600 3/4406 - - - - - - -
?/? c.819C>A r.(?) p.(Asp273Glu) g.134345063C>A Copied from the Exome Variant Server CATSPER3_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.823A>C r.(?) p.(Ile275Leu) g.134345067A>C Copied from the Exome Variant Server CATSPER3_000074 20/13006 0/8600 20/4406 - - - - - - -
?/? c.838C>T r.(?) p.(Arg280*) g.134345082C>T Copied from the Exome Variant Server CATSPER3_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.841G>C r.(?) p.(Glu281Gln) g.134345085G>C Copied from the Exome Variant Server CATSPER3_000076 1/13006 0/8600 1/4406 - - - - - - -
?/? c.845T>A r.(?) p.(Leu282Gln) g.134345089T>A Copied from the Exome Variant Server CATSPER3_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.881A>G r.(?) p.(Lys294Arg) g.134345125A>G Copied from the Exome Variant Server CATSPER3_000080 57/13006 53/8600 4/4406 - - - - - - -
?/? c.892C>T r.(=) p.(=) g.134345136C>T Copied from the Exome Variant Server CATSPER3_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.898C>T r.(?) p.(Arg300Trp) g.134345142C>T Copied from the Exome Variant Server CATSPER3_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.899G>A r.(?) p.(Arg300Gln) g.134345143G>A Copied from the Exome Variant Server CATSPER3_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.912G>A r.(=) p.(=) g.134345156G>A Copied from the Exome Variant Server CATSPER3_000088 8/13006 7/8600 1/4406 - - - - - - -
?/? c.915C>T r.(=) p.(=) g.134345159C>T Copied from the Exome Variant Server CATSPER3_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.936+9C>T r.(=) p.(=) g.134345189C>T Copied from the Exome Variant Server CATSPER3_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.936+13T>G r.(=) p.(=) g.134345193T>G Copied from the Exome Variant Server CATSPER3_000081 1/13006 0/8600 1/4406 - - - - - - -
?/? c.936+45G>A r.(=) p.(=) g.134345225G>A Copied from the Exome Variant Server CATSPER3_000083 1/13006 0/8600 1/4406 - - - - - - -
?/? c.937-49C>T r.(=) p.(=) g.134346014C>T Copied from the Exome Variant Server CATSPER3_000085 179/13006 0/8600 179/4406 - - - - - - -
?/? c.937-48G>A r.(=) p.(=) g.134346015G>A Copied from the Exome Variant Server CATSPER3_000087 3/13006 0/8600 3/4406 - - - - - - -
?/? c.937-41A>C r.(=) p.(=) g.134346022A>C Copied from the Exome Variant Server CATSPER3_000089 791/13006 7/8600 784/4406 - - - - - - -
?/? c.937-20C>T r.(=) p.(=) g.134346043C>T Copied from the Exome Variant Server CATSPER3_000090 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1009A>G r.(?) p.(Met337Val) g.134346135A>G Copied from the Exome Variant Server CATSPER3_000091 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1021G>T r.(?) p.(Asp341Tyr) g.134346147G>T Copied from the Exome Variant Server CATSPER3_000092 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1047C>T r.(=) p.(=) g.134346173C>T Copied from the Exome Variant Server CATSPER3_000093 29/13006 28/8600 1/4406 - - - - - - -
?/? c.1048G>A r.(?) p.(Asp350Asn) g.134346174G>A Copied from the Exome Variant Server CATSPER3_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1049A>G r.(?) p.(Asp350Gly) g.134346175A>G Copied from the Exome Variant Server CATSPER3_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1056C>T r.(=) p.(=) g.134346182C>T Copied from the Exome Variant Server CATSPER3_000096 827/13006 16/8600 811/4406 - - - - - - -
?/? c.1061C>G r.(?) p.(Ser354Cys) g.134346187C>G Copied from the Exome Variant Server CATSPER3_000097 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1063A>G r.(?) p.(Thr355Ala) g.134346189A>G Copied from the Exome Variant Server CATSPER3_000098 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1075C>T r.(?) p.(Gln359*) g.134346201C>T Copied from the Exome Variant Server CATSPER3_000099 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1094+11G>C r.(=) p.(=) g.134346231G>C Copied from the Exome Variant Server CATSPER3_000100 4/13006 4/8600 0/4406 - - - - - - -
Legend   « First ‹ Prev     1 2     Next › Last »