Unique variants in gene CAV3

Information The variants shown are described using the NM_033337.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.27C>T r.(=) p.(=) g.8775589C>T - CAV3_000001 rs1974763 0.103 53 516 10768 - - Admin
./. 1 - c.99C>T r.(=) p.(=) g.8775661C>T - CAV3_000002 rs1008642 0.318 164 516 15962 - - Admin
./. 1 - c.114+26G>A r.(=) p.(=) g.8775702G>A - CAV3_000003 rs11922879 0.06 31 516 11035 - - Admin
./. 1 - c.114+48G>A r.(=) p.(=) g.8775724G>A - CAV3_000004 rs151222758 0.003876 2 516 9886 - - Admin
./. 1 - c.115-3166_115-3165insA r.(=) p.(=) g.8784046_8784047insA - CAV3_000006 rs36055094 - - - - - - Admin
./. 1 - c.115-3166_115-3165insAA r.(=) p.(=) g.8784046_8784047insAA - CAV3_000007 rs36055094 - - - - - - Admin
./. 1 - c.115-3166_115-3165insAAA r.(=) p.(=) g.8784046_8784047insAAA - CAV3_000005 rs36055094 - - - - - - Admin
./. 1 - c.115-3153_115-3151del r.(=) p.(=) g.8784059_8784061del - CAV3_000008 - 0.001938 1 516 5953 1 - Admin
./. 1 - c.115-3151G>A r.(=) p.(=) g.8784061G>A - CAV3_000009 rs9917804 0.006667 3 450 1194 - - Admin
./. 1 - c.115-3148G>A r.(=) p.(=) g.8784064G>A - CAV3_000010 rs1036485345 0.004082 2 490 1322 2 - Admin
./. 1 - c.115-3145G>A r.(=) p.(=) g.8784067G>A - CAV3_000011 rs1267937441 0.002 1 500 1430 1 - Admin
./. 1 - c.115-3142G>A r.(=) p.(=) g.8784070G>A - CAV3_000012 - 0.001961 1 510 1556 1 - Admin
./. 1 - c.115-3013G>A r.(=) p.(=) g.8784199G>A - CAV3_000013 rs138564258 0.001938 1 516 5573 - - Admin
./. 1 - c.115-2965A>G r.(=) p.(=) g.8784247A>G - CAV3_000014 rs114734607 0.003876 2 516 6265 - - Admin
./. 1 - c.115-89G>T r.(=) p.(=) g.8787123G>T - CAV3_000015 rs13060135 0.103 53 516 5789 - - Admin
./. 1 - c.115-47_115-31del r.(=) p.(=) g.8787165_8787181del - CAV3_000016 rs116840772 0.001961 1 510 1556 1 - Admin
./. 1 - c.115-45C>T r.(=) p.(=) g.8787167C>T - CAV3_000017 rs80340058 0.003876 2 516 7544 - - Admin
./. 1 - c.115-24G>A r.(=) p.(=) g.8787188G>A - CAV3_000018 rs759373627 0.001938 1 516 7745 - - Admin
./. 1 - c.115-23G>C r.(=) p.(=) g.8787189G>C - CAV3_000019 rs57159780 0.064 33 516 7783 - - Admin
./. 1 - c.123T>C r.(=) p.(=) g.8787220T>C - CAV3_000020 rs13087941 0.182 94 516 8830 - - Admin
./. 1 - c.166G>A r.(?) p.(Gly56Ser) g.8787263G>A - CAV3_000021 rs72546667 0.00969 5 516 9115 - - Admin
./. 1 - c.168C>T r.(=) p.(=) g.8787265C>T - CAV3_000022 rs116840774 0.001938 1 516 9077 - - Admin
./. 1 - c.171G>A r.(=) p.(=) g.8787268G>A - CAV3_000023 rs61147808 0.005814 3 516 9086 - - Admin
./. 1 - c.233C>T r.(?) p.(Thr78Met) g.8787330C>T - CAV3_000024 rs72546668 0.007752 4 516 9199 - - Admin
./. 1 - c.365C>T r.(?) p.(Ser122Leu) g.8787462C>T - CAV3_000025 - 0.001938 1 516 9629 1 - Admin
./. 1 - c.377G>A r.(?) p.(Arg126His) g.8787474G>A - CAV3_000026 rs116840777 0.001938 1 516 9644 - - Admin
./. 1 - c.384C>T r.(=) p.(=) g.8787481C>T - CAV3_000027 rs773934743 0.001938 1 516 9618 - - Admin
./. 1 - c.391C>A r.(?) p.(Pro131Thr) g.8787488C>A - CAV3_000028 rs1024814421 0.001938 1 516 9600 1 - Admin
./. 1 - c.*9G>C r.(=) p.(=) g.8787562G>C - CAV3_000029 rs749424132 0.001938 1 516 6790 - - Admin
./. 1 - c.*20G>A r.(=) p.(=) g.8787573G>A - CAV3_000030 rs137946394 0.003876 2 516 5801 - - Admin
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