Full data view for gene CNGA2

Information The variants shown are described using the NM_005140.1 transcript reference sequence.

108 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.6C>T r.(=) p.(=) g.150906961C>T Copied from the Exome Variant Server CNGA2_000079 130/10563 0/6728 130/3835 - - - - - - -
?/? c.10A>G r.(?) p.(Lys4Glu) g.150906965A>G Copied from the Exome Variant Server CNGA2_000080 1/10563 0/6728 1/3835 - - - - - - -
?/? c.44A>C r.(?) p.(Asn15Thr) g.150906999A>C Copied from the Exome Variant Server CNGA2_000004 90/10563 1/6728 89/3835 - - - - - - -
?/? c.61C>A r.(?) p.(Pro21Thr) g.150907016C>A Copied from the Exome Variant Server CNGA2_000005 2/10563 1/6728 1/3835 - - - - - - -
?/? c.106A>G r.(?) p.(Ser36Gly) g.150907061A>G Copied from the Exome Variant Server CNGA2_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.111-51G>A r.(=) p.(=) g.150907208G>A Copied from the Exome Variant Server CNGA2_000007 1/10513 0/6693 1/3820 - - - - - - -
?/? c.111-19T>C r.(=) p.(=) g.150907240T>C Copied from the Exome Variant Server CNGA2_000008 3093/10508 1097/6697 1996/3811 - - - - - - -
?/? c.111-3C>T r.spl? p.? g.150907256C>T Copied from the Exome Variant Server CNGA2_000009 16/10501 0/6693 16/3808 - - - - - - -
?/? c.129C>T r.(=) p.(=) g.150907277C>T Copied from the Exome Variant Server CNGA2_000010 1/10512 0/6697 1/3815 - - - - - - -
?/? c.138C>T r.(=) p.(=) g.150907286C>T Copied from the Exome Variant Server CNGA2_000011 1/10511 0/6692 1/3819 - - - - - - -
?/? c.145G>A r.(?) p.(Glu49Lys) g.150907293G>A Copied from the Exome Variant Server CNGA2_000012 1/10506 1/6689 0/3817 - - - - - - -
?/? c.199C>T r.(?) p.(Arg67Cys) g.150907347C>T Copied from the Exome Variant Server CNGA2_000013 1/10397 1/6617 0/3780 - - - - - - -
?/? c.204-33C>T r.(=) p.(=) g.150908001C>T Copied from the Exome Variant Server CNGA2_000014 2/10563 2/6728 0/3835 - - - - - - -
?/? c.204-30T>C r.(=) p.(=) g.150908004T>C Copied from the Exome Variant Server CNGA2_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.211C>T r.(?) p.(Arg71Cys) g.150908041C>T Copied from the Exome Variant Server CNGA2_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.212G>A r.(?) p.(Arg71His) g.150908042G>A Copied from the Exome Variant Server CNGA2_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.230G>C r.(?) p.(Arg77Thr) g.150908060G>C Copied from the Exome Variant Server CNGA2_000018 2/10563 0/6728 2/3835 - - - - - - -
?/? c.254G>A r.(?) p.(Arg85Gln) g.150908084G>A Copied from the Exome Variant Server CNGA2_000019 3/10563 0/6728 3/3835 - - - - - - -
?/? c.285C>T r.(=) p.(=) g.150908115C>T Copied from the Exome Variant Server CNGA2_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.286G>A r.(?) p.(Glu96Lys) g.150908116G>A Copied from the Exome Variant Server CNGA2_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.289C>T r.(?) p.(Arg97Cys) g.150908119C>T Copied from the Exome Variant Server CNGA2_000022 2/10563 1/6728 1/3835 - - - - - - -
?/? c.338G>T r.(?) p.(Gly113Val) g.150908168G>T Copied from the Exome Variant Server CNGA2_000023 57/10563 55/6728 2/3835 - - - - - - -
?/? c.352G>C r.(?) p.(Asp118His) g.150908182G>C Copied from the Exome Variant Server CNGA2_000024 155/10563 1/6728 154/3835 - - - - - - -
?/? c.358G>A r.(?) p.(Glu120Lys) g.150908188G>A Copied from the Exome Variant Server CNGA2_000025 2/10563 2/6728 0/3835 - - - - - - -
?/? c.360G>A r.(=) p.(=) g.150908190G>A Copied from the Exome Variant Server CNGA2_000026 1/10563 0/6728 1/3835 - - - - - - -
?/? c.374+28A>G r.(=) p.(=) g.150908232A>G Copied from the Exome Variant Server CNGA2_000027 1/10563 0/6728 1/3835 - - - - - - -
?/? c.375-44T>A r.(=) p.(=) g.150909222T>A Copied from the Exome Variant Server CNGA2_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.379A>G r.(?) p.(Lys127Glu) g.150909270A>G Copied from the Exome Variant Server CNGA2_000081 1/10563 1/6728 0/3835 - - - - - - -
?/? c.394G>T r.(?) p.(Val132Phe) g.150909285G>T Copied from the Exome Variant Server CNGA2_000082 4/10563 4/6728 0/3835 - - - - - - -
?/? c.402C>T r.(=) p.(=) g.150909293C>T Copied from the Exome Variant Server CNGA2_000083 131/10563 1/6728 130/3835 - - - - - - -
?/? c.416G>T r.(?) p.(Trp139Leu) g.150909307G>T Copied from the Exome Variant Server CNGA2_000084 1094/10563 986/6728 108/3835 - - - - - - -
?/? c.419A>G r.(?) p.(Tyr140Cys) g.150909310A>G Copied from the Exome Variant Server CNGA2_000085 1/10563 0/6728 1/3835 - - - - - - -
?/? c.451G>A r.(?) p.(Val151Ile) g.150909342G>A Copied from the Exome Variant Server CNGA2_000086 2/10563 2/6728 0/3835 - - - - - - -
?/? c.479C>G r.(?) p.(Ala160Gly) g.150909370C>G Copied from the Exome Variant Server CNGA2_000087 2/10563 0/6728 2/3835 - - - - - - -
?/? c.482+1G>A r.spl? p.? g.150909374G>A Copied from the Exome Variant Server CNGA2_000088 1/10563 1/6728 0/3835 - - - - - - -
?/? c.482+18C>G r.(=) p.(=) g.150909391C>G Copied from the Exome Variant Server CNGA2_000089 1/10563 0/6728 1/3835 - - - - - - -
?/? c.483-32_483-31insG r.(=) p.(=) g.150910976_150910977insG Copied from the Exome Variant Server CNGA2_000090 1/10205 0/6484 1/3721 - - - - - - -
?/? c.483-22G>A r.(=) p.(=) g.150910986G>A Copied from the Exome Variant Server CNGA2_000091 1756/10563 421/6728 1335/3835 - - - - - - -
?/? c.483-9C>T r.(=) p.(=) g.150910999C>T Copied from the Exome Variant Server CNGA2_000092 3/10563 1/6728 2/3835 - - - - - - -
?/? c.483-5C>T r.spl? p.? g.150911003C>T Copied from the Exome Variant Server CNGA2_000093 2/10563 0/6728 2/3835 - - - - - - -
?/? c.564G>A r.(=) p.(=) g.150911089G>A Copied from the Exome Variant Server CNGA2_000094 4/10563 0/6728 4/3835 - - - - - - -
?/? c.578G>A r.(?) p.(Arg193Gln) g.150911103G>A Copied from the Exome Variant Server CNGA2_000095 1/10563 0/6728 1/3835 - - - - - - -
?/? c.582G>A r.(=) p.(=) g.150911107G>A Copied from the Exome Variant Server CNGA2_000096 1183/10563 609/6728 574/3835 - - - - - - -
?/? c.584G>A r.(?) p.(Arg195His) g.150911109G>A Copied from the Exome Variant Server CNGA2_000097 1/10563 1/6728 0/3835 - - - - - - -
?/? c.589+35G>C r.(=) p.(=) g.150911149G>C Copied from the Exome Variant Server CNGA2_000098 63/10563 0/6728 63/3835 - - - - - - -
?/? c.590-34G>A r.(=) p.(=) g.150911531G>A Copied from the Exome Variant Server CNGA2_000099 1/10561 0/6726 1/3835 - - - - - - -
?/? c.590-22T>C r.(=) p.(=) g.150911543T>C Copied from the Exome Variant Server CNGA2_000100 1/10563 0/6728 1/3835 - - - - - - -
?/? c.597G>A r.(=) p.(=) g.150911572G>A Copied from the Exome Variant Server CNGA2_000101 1/10563 0/6728 1/3835 - - - - - - -
?/? c.606G>A r.(=) p.(=) g.150911581G>A Copied from the Exome Variant Server CNGA2_000102 2/10563 2/6728 0/3835 - - - - - - -
?/? c.616A>G r.(?) p.(Lys206Glu) g.150911591A>G Copied from the Exome Variant Server CNGA2_000103 1/10563 0/6728 1/3835 - - - - - - -
?/? c.621T>G r.(?) p.(Asp207Glu) g.150911596T>G Copied from the Exome Variant Server CNGA2_000104 1/10563 0/6728 1/3835 - - - - - - -
?/? c.636A>G r.(=) p.(=) g.150911611A>G Copied from the Exome Variant Server CNGA2_000054 1/10563 1/6728 0/3835 - - - - - - -
?/? c.796C>T r.(?) p.(Arg266Cys) g.150911771C>T Copied from the Exome Variant Server CNGA2_000055 1/10563 0/6728 1/3835 - - - - - - -
?/? c.821G>A r.(?) p.(Arg274His) g.150911796G>A Copied from the Exome Variant Server CNGA2_000056 14/10563 13/6728 1/3835 - - - - - - -
?/? c.827G>A r.(?) p.(Ser276Asn) g.150911802G>A Copied from the Exome Variant Server CNGA2_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.840C>T r.(=) p.(=) g.150911815C>T Copied from the Exome Variant Server CNGA2_000058 4/10563 4/6728 0/3835 - - - - - - -
?/? c.842A>C r.(?) p.(Tyr281Ser) g.150911817A>C Copied from the Exome Variant Server CNGA2_000059 1/10563 1/6728 0/3835 - - - - - - -
?/? c.852C>T r.(=) p.(=) g.150911827C>T Copied from the Exome Variant Server CNGA2_000060 5/10563 0/6728 5/3835 - - - - - - -
?/? c.881A>G r.(?) p.(Tyr294Cys) g.150911856A>G Copied from the Exome Variant Server CNGA2_000061 2/10563 1/6728 1/3835 - - - - - - -
?/? c.885C>T r.(=) p.(=) g.150911860C>T Copied from the Exome Variant Server CNGA2_000062 1/10563 0/6728 1/3835 - - - - - - -
?/? c.891C>T r.(=) p.(=) g.150911866C>T Copied from the Exome Variant Server CNGA2_000063 1/10563 1/6728 0/3835 - - - - - - -
?/? c.899T>A r.(?) p.(Ile300Lys) g.150911874T>A Copied from the Exome Variant Server CNGA2_000064 1/10563 0/6728 1/3835 - - - - - - -
?/? c.953G>A r.(?) p.(Gly318Asp) g.150911928G>A Copied from the Exome Variant Server CNGA2_000029 16/10563 0/6728 16/3835 - - - - - - -
?/? c.1013T>C r.(?) p.(Ile338Thr) g.150911988T>C Copied from the Exome Variant Server CNGA2_000030 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1017G>A r.(=) p.(=) g.150911992G>A Copied from the Exome Variant Server CNGA2_000031 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1081G>A r.(?) p.(Val361Ile) g.150912056G>A Copied from the Exome Variant Server CNGA2_000032 125/10563 102/6728 23/3835 - - - - - - -
?/? c.1101C>T r.(=) p.(=) g.150912076C>T Copied from the Exome Variant Server CNGA2_000033 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1124T>C r.(?) p.(Ile375Thr) g.150912099T>C Copied from the Exome Variant Server CNGA2_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1145G>A r.(?) p.(Arg382Gln) g.150912120G>A Copied from the Exome Variant Server CNGA2_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1168G>A r.(?) p.(Asp390Asn) g.150912143G>A Copied from the Exome Variant Server CNGA2_000036 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1180C>T r.(?) p.(His394Tyr) g.150912155C>T Copied from the Exome Variant Server CNGA2_000037 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1190A>T r.(?) p.(Gln397Leu) g.150912165A>T Copied from the Exome Variant Server CNGA2_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1195C>T r.(?) p.(Arg399*) g.150912170C>T Copied from the Exome Variant Server CNGA2_000039 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1196G>A r.(?) p.(Arg399Gln) g.150912171G>A Copied from the Exome Variant Server CNGA2_000040 357/10563 2/6728 355/3835 - - - - - - -
?/? c.1329T>C r.(=) p.(=) g.150912304T>C Copied from the Exome Variant Server CNGA2_000041 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1331T>C r.(?) p.(Val444Ala) g.150912306T>C Copied from the Exome Variant Server CNGA2_000042 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1361T>C r.(?) p.(Ile454Thr) g.150912336T>C Copied from the Exome Variant Server CNGA2_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1393G>C r.(?) p.(Glu465Gln) g.150912368G>C Copied from the Exome Variant Server CNGA2_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1448G>A r.(?) p.(Arg483His) g.150912423G>A Copied from the Exome Variant Server CNGA2_000045 5/10563 0/6728 5/3835 - - - - - - -
?/? c.1455G>C r.(=) p.(=) g.150912430G>C Copied from the Exome Variant Server CNGA2_000046 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1458C>T r.(=) p.(=) g.150912433C>T Copied from the Exome Variant Server CNGA2_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1461C>T r.(=) p.(=) g.150912436C>T Copied from the Exome Variant Server CNGA2_000048 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1527G>A r.(=) p.(=) g.150912502G>A Copied from the Exome Variant Server CNGA2_000049 53/10563 48/6728 5/3835 - - - - - - -
?/? c.1541C>T r.(?) p.(Ser514Leu) g.150912516C>T Copied from the Exome Variant Server CNGA2_000050 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1606C>T r.(?) p.(Arg536Cys) g.150912581C>T Copied from the Exome Variant Server CNGA2_000051 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1622G>A r.(?) p.(Arg541His) g.150912597G>A Copied from the Exome Variant Server CNGA2_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1623C>G r.(=) p.(=) g.150912598C>G Copied from the Exome Variant Server CNGA2_000053 10/10563 0/6728 10/3835 - - - - - - -
?/? c.1658A>G r.(?) p.(Lys553Arg) g.150912633A>G Copied from the Exome Variant Server CNGA2_000065 9/10563 0/6728 9/3835 - - - - - - -
?/? c.1723C>T r.(?) p.(Arg575Trp) g.150912698C>T Copied from the Exome Variant Server CNGA2_000066 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1730T>G r.(?) p.(Ile577Ser) g.150912705T>G Copied from the Exome Variant Server CNGA2_000067 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1751T>C r.(?) p.(Leu584Pro) g.150912726T>C Copied from the Exome Variant Server CNGA2_000068 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1789G>A r.(?) p.(Val597Met) g.150912764G>A Copied from the Exome Variant Server CNGA2_000069 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1821C>G r.(?) p.(Asn607Lys) g.150912796C>G Copied from the Exome Variant Server CNGA2_000070 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1834T>G r.(?) p.(Tyr612Asp) g.150912809T>G Copied from the Exome Variant Server CNGA2_000071 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1849C>T r.(?) p.(Arg617Cys) g.150912824C>T Copied from the Exome Variant Server CNGA2_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1855C>T r.(=) p.(=) g.150912830C>T Copied from the Exome Variant Server CNGA2_000073 184/10563 1/6728 183/3835 - - - - - - -
?/? c.1891C>T r.(?) p.(Gln631*) g.150912866C>T Copied from the Exome Variant Server CNGA2_000074 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1894C>T r.(?) p.(Arg632Cys) g.150912869C>T Copied from the Exome Variant Server CNGA2_000075 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1917G>C r.(?) p.(Lys639Asn) g.150912892G>C Copied from the Exome Variant Server CNGA2_000076 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1939G>A r.(?) p.(Asp647Asn) g.150912914G>A Copied from the Exome Variant Server CNGA2_000077 1/10563 0/6728 1/3835 - - - - - - -
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