UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.92077826A= | CA1725747782 | AKAP9 | c.6896A= (p.Glu2299=) c.6968A= (p.Glu2323=) c.389A= (p.Glu130=) c.1541A= (p.Glu514=) c.*6625A= (n.*6625A=) c.6872A= (p.Glu2291=) n.7094A= c.6842A= (p.Glu2281=) c.*6681A= (n.*6681A=) n.7118A= c.6638A= (p.Glu2213=) c.6719A= (p.Glu2240=) c.6803A= (p.Glu2268=) c.6755A= (p.Glu2252=) c.6935A= (p.Glu2312=) c.6929A= (p.Glu2310=) c.434A= (p.Glu145=) c.7043A= (p.Glu2348=) c.7067A= (p.Glu2356=) c.7007A= (p.Glu2336=) c.7004A= (p.Glu2335=) c.6989A= (p.Glu2330=) c.7028A= (p.Glu2343=) c.6947A= (p.Glu2316=) c.6902A= (p.Glu2301=) c.6932A= (p.Glu2311=) c.6908A= (p.Glu2303=) c.6791A= (p.Glu2264=) c.1556A= (p.Glu519=) c.1517A= (p.Glu506=) c.7031A= (p.Glu2344=) c.6992A= (p.Glu2331=) c.6977A= (p.Glu2326=) c.6938A= (p.Glu2313=) c.6890A= (p.Glu2297=) c.6659A= (p.Glu2220=) c.2696A= (p.Glu899=) c.1580A= (p.Glu527=) c.6794A= (p.Glu2265=) | |
| 7 | g.92077826A>C | CA368133835 | AKAP9 | c.6896A>C (p.Glu2299Ala) c.6968A>C (p.Glu2323Ala) c.389A>C (p.Glu130Ala) c.1541A>C (p.Glu514Ala) c.*6625A>C (n.*6625A>C) c.6872A>C (p.Glu2291Ala) n.7094A>C c.6842A>C (p.Glu2281Ala) c.*6681A>C (n.*6681A>C) n.7118A>C c.6638A>C (p.Glu2213Ala) c.6719A>C (p.Glu2240Ala) c.6803A>C (p.Glu2268Ala) c.6755A>C (p.Glu2252Ala) c.6935A>C (p.Glu2312Ala) c.6929A>C (p.Glu2310Ala) c.434A>C (p.Glu145Ala) c.7043A>C (p.Glu2348Ala) c.7067A>C (p.Glu2356Ala) c.7007A>C (p.Glu2336Ala) c.7004A>C (p.Glu2335Ala) c.6989A>C (p.Glu2330Ala) c.7028A>C (p.Glu2343Ala) c.6947A>C (p.Glu2316Ala) c.6902A>C (p.Glu2301Ala) c.6932A>C (p.Glu2311Ala) c.6908A>C (p.Glu2303Ala) c.6791A>C (p.Glu2264Ala) c.1556A>C (p.Glu519Ala) c.1517A>C (p.Glu506Ala) c.7031A>C (p.Glu2344Ala) c.6992A>C (p.Glu2331Ala) c.6977A>C (p.Glu2326Ala) c.6938A>C (p.Glu2313Ala) c.6890A>C (p.Glu2297Ala) c.6659A>C (p.Glu2220Ala) c.2696A>C (p.Glu899Ala) c.1580A>C (p.Glu527Ala) c.6794A>C (p.Glu2265Ala) | |
| 7 | g.92077826A>G | CA4337185 | AKAP9 | c.6896A>G (p.Glu2299Gly) c.6968A>G (p.Glu2323Gly) c.389A>G (p.Glu130Gly) c.1541A>G (p.Glu514Gly) c.*6625A>G (n.*6625A>G) c.6872A>G (p.Glu2291Gly) n.7094A>G c.6842A>G (p.Glu2281Gly) c.*6681A>G (n.*6681A>G) n.7118A>G c.6638A>G (p.Glu2213Gly) c.6719A>G (p.Glu2240Gly) c.6803A>G (p.Glu2268Gly) c.6755A>G (p.Glu2252Gly) c.6935A>G (p.Glu2312Gly) c.6929A>G (p.Glu2310Gly) c.434A>G (p.Glu145Gly) c.7043A>G (p.Glu2348Gly) c.7067A>G (p.Glu2356Gly) c.7007A>G (p.Glu2336Gly) c.7004A>G (p.Glu2335Gly) c.6989A>G (p.Glu2330Gly) c.7028A>G (p.Glu2343Gly) c.6947A>G (p.Glu2316Gly) c.6902A>G (p.Glu2301Gly) c.6932A>G (p.Glu2311Gly) c.6908A>G (p.Glu2303Gly) c.6791A>G (p.Glu2264Gly) c.1556A>G (p.Glu519Gly) c.1517A>G (p.Glu506Gly) c.7031A>G (p.Glu2344Gly) c.6992A>G (p.Glu2331Gly) c.6977A>G (p.Glu2326Gly) c.6938A>G (p.Glu2313Gly) c.6890A>G (p.Glu2297Gly) c.6659A>G (p.Glu2220Gly) c.2696A>G (p.Glu899Gly) c.1580A>G (p.Glu527Gly) c.6794A>G (p.Glu2265Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.92077826A>T | CA368133836 | AKAP9 | c.6896A>T (p.Glu2299Val) c.6968A>T (p.Glu2323Val) c.389A>T (p.Glu130Val) c.1541A>T (p.Glu514Val) c.*6625A>T (n.*6625A>T) c.6872A>T (p.Glu2291Val) n.7094A>T c.6842A>T (p.Glu2281Val) c.*6681A>T (n.*6681A>T) n.7118A>T c.6638A>T (p.Glu2213Val) c.6719A>T (p.Glu2240Val) c.6803A>T (p.Glu2268Val) c.6755A>T (p.Glu2252Val) c.6935A>T (p.Glu2312Val) c.6929A>T (p.Glu2310Val) c.434A>T (p.Glu145Val) c.7043A>T (p.Glu2348Val) c.7067A>T (p.Glu2356Val) c.7007A>T (p.Glu2336Val) c.7004A>T (p.Glu2335Val) c.6989A>T (p.Glu2330Val) c.7028A>T (p.Glu2343Val) c.6947A>T (p.Glu2316Val) c.6902A>T (p.Glu2301Val) c.6932A>T (p.Glu2311Val) c.6908A>T (p.Glu2303Val) c.6791A>T (p.Glu2264Val) c.1556A>T (p.Glu519Val) c.1517A>T (p.Glu506Val) c.7031A>T (p.Glu2344Val) c.6992A>T (p.Glu2331Val) c.6977A>T (p.Glu2326Val) c.6938A>T (p.Glu2313Val) c.6890A>T (p.Glu2297Val) c.6659A>T (p.Glu2220Val) c.2696A>T (p.Glu899Val) c.1580A>T (p.Glu527Val) c.6794A>T (p.Glu2265Val) | |
| 7 | g.92077827A= | CA1725747784 | AKAP9 | c.6897A= (p.Glu2299=) c.6969A= (p.Glu2323=) c.390A= (p.Glu130=) c.1542A= (p.Glu514=) c.*6626A= (n.*6626A=) c.6873A= (p.Glu2291=) n.7095A= c.6843A= (p.Glu2281=) c.*6682A= (n.*6682A=) n.7119A= c.6639A= (p.Glu2213=) c.6720A= (p.Glu2240=) c.6804A= (p.Glu2268=) c.6756A= (p.Glu2252=) c.6936A= (p.Glu2312=) c.6930A= (p.Glu2310=) c.435A= (p.Glu145=) c.7044A= (p.Glu2348=) c.7068A= (p.Glu2356=) c.7008A= (p.Glu2336=) c.7005A= (p.Glu2335=) c.6990A= (p.Glu2330=) c.7029A= (p.Glu2343=) c.6948A= (p.Glu2316=) c.6903A= (p.Glu2301=) c.6933A= (p.Glu2311=) c.6909A= (p.Glu2303=) c.6792A= (p.Glu2264=) c.1557A= (p.Glu519=) c.1518A= (p.Glu506=) c.7032A= (p.Glu2344=) c.6993A= (p.Glu2331=) c.6978A= (p.Glu2326=) c.6939A= (p.Glu2313=) c.6891A= (p.Glu2297=) c.6660A= (p.Glu2220=) c.2697A= (p.Glu899=) c.1581A= (p.Glu527=) c.6795A= (p.Glu2265=) | |
| 7 | g.92077827A>C | CA368133837 | AKAP9 | c.6897A>C (p.Glu2299Asp) c.6969A>C (p.Glu2323Asp) c.390A>C (p.Glu130Asp) c.1542A>C (p.Glu514Asp) c.*6626A>C (n.*6626A>C) c.6873A>C (p.Glu2291Asp) n.7095A>C c.6843A>C (p.Glu2281Asp) c.*6682A>C (n.*6682A>C) n.7119A>C c.6639A>C (p.Glu2213Asp) c.6720A>C (p.Glu2240Asp) c.6804A>C (p.Glu2268Asp) c.6756A>C (p.Glu2252Asp) c.6936A>C (p.Glu2312Asp) c.6930A>C (p.Glu2310Asp) c.435A>C (p.Glu145Asp) c.7044A>C (p.Glu2348Asp) c.7068A>C (p.Glu2356Asp) c.7008A>C (p.Glu2336Asp) c.7005A>C (p.Glu2335Asp) c.6990A>C (p.Glu2330Asp) c.7029A>C (p.Glu2343Asp) c.6948A>C (p.Glu2316Asp) c.6903A>C (p.Glu2301Asp) c.6933A>C (p.Glu2311Asp) c.6909A>C (p.Glu2303Asp) c.6792A>C (p.Glu2264Asp) c.1557A>C (p.Glu519Asp) c.1518A>C (p.Glu506Asp) c.7032A>C (p.Glu2344Asp) c.6993A>C (p.Glu2331Asp) c.6978A>C (p.Glu2326Asp) c.6939A>C (p.Glu2313Asp) c.6891A>C (p.Glu2297Asp) c.6660A>C (p.Glu2220Asp) c.2697A>C (p.Glu899Asp) c.1581A>C (p.Glu527Asp) c.6795A>C (p.Glu2265Asp) | |
| 7 | g.92077827A>G | CA456450474 | AKAP9 | c.6897A>G (p.Glu2299=) c.6969A>G (p.Glu2323=) c.390A>G (p.Glu130=) c.1542A>G (p.Glu514=) c.*6626A>G (n.*6626A>G) c.6873A>G (p.Glu2291=) n.7095A>G c.6843A>G (p.Glu2281=) c.*6682A>G (n.*6682A>G) n.7119A>G c.6639A>G (p.Glu2213=) c.6720A>G (p.Glu2240=) c.6804A>G (p.Glu2268=) c.6756A>G (p.Glu2252=) c.6936A>G (p.Glu2312=) c.6930A>G (p.Glu2310=) c.435A>G (p.Glu145=) c.7044A>G (p.Glu2348=) c.7068A>G (p.Glu2356=) c.7008A>G (p.Glu2336=) c.7005A>G (p.Glu2335=) c.6990A>G (p.Glu2330=) c.7029A>G (p.Glu2343=) c.6948A>G (p.Glu2316=) c.6903A>G (p.Glu2301=) c.6933A>G (p.Glu2311=) c.6909A>G (p.Glu2303=) c.6792A>G (p.Glu2264=) c.1557A>G (p.Glu519=) c.1518A>G (p.Glu506=) c.7032A>G (p.Glu2344=) c.6993A>G (p.Glu2331=) c.6978A>G (p.Glu2326=) c.6939A>G (p.Glu2313=) c.6891A>G (p.Glu2297=) c.6660A>G (p.Glu2220=) c.2697A>G (p.Glu899=) c.1581A>G (p.Glu527=) c.6795A>G (p.Glu2265=) | |
| 7 | g.92077827A>T | CA4337186 | AKAP9 | c.6897A>T (p.Glu2299Asp) c.6969A>T (p.Glu2323Asp) c.390A>T (p.Glu130Asp) c.1542A>T (p.Glu514Asp) c.*6626A>T (n.*6626A>T) c.6873A>T (p.Glu2291Asp) n.7095A>T c.6843A>T (p.Glu2281Asp) c.*6682A>T (n.*6682A>T) n.7119A>T c.6639A>T (p.Glu2213Asp) c.6720A>T (p.Glu2240Asp) c.6804A>T (p.Glu2268Asp) c.6756A>T (p.Glu2252Asp) c.6936A>T (p.Glu2312Asp) c.6930A>T (p.Glu2310Asp) c.435A>T (p.Glu145Asp) c.7044A>T (p.Glu2348Asp) c.7068A>T (p.Glu2356Asp) c.7008A>T (p.Glu2336Asp) c.7005A>T (p.Glu2335Asp) c.6990A>T (p.Glu2330Asp) c.7029A>T (p.Glu2343Asp) c.6948A>T (p.Glu2316Asp) c.6903A>T (p.Glu2301Asp) c.6933A>T (p.Glu2311Asp) c.6909A>T (p.Glu2303Asp) c.6792A>T (p.Glu2264Asp) c.1557A>T (p.Glu519Asp) c.1518A>T (p.Glu506Asp) c.7032A>T (p.Glu2344Asp) c.6993A>T (p.Glu2331Asp) c.6978A>T (p.Glu2326Asp) c.6939A>T (p.Glu2313Asp) c.6891A>T (p.Glu2297Asp) c.6660A>T (p.Glu2220Asp) c.2697A>T (p.Glu899Asp) c.1581A>T (p.Glu527Asp) c.6795A>T (p.Glu2265Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.92077828C>A | CA368133838 | AKAP9 | c.6898C>A (p.Gln2300Lys) c.6970C>A (p.Gln2324Lys) c.391C>A (p.Gln131Lys) c.1543C>A (p.Gln515Lys) c.*6627C>A (n.*6627C>A) c.6874C>A (p.Gln2292Lys) n.7096C>A c.6844C>A (p.Gln2282Lys) c.*6683C>A (n.*6683C>A) n.7120C>A c.6640C>A (p.Gln2214Lys) c.6721C>A (p.Gln2241Lys) c.6805C>A (p.Gln2269Lys) c.6757C>A (p.Gln2253Lys) c.6937C>A (p.Gln2313Lys) c.6931C>A (p.Gln2311Lys) c.436C>A (p.Gln146Lys) c.7045C>A (p.Gln2349Lys) c.7069C>A (p.Gln2357Lys) c.7009C>A (p.Gln2337Lys) c.7006C>A (p.Gln2336Lys) c.6991C>A (p.Gln2331Lys) c.7030C>A (p.Gln2344Lys) c.6949C>A (p.Gln2317Lys) c.6904C>A (p.Gln2302Lys) c.6934C>A (p.Gln2312Lys) c.6910C>A (p.Gln2304Lys) c.6793C>A (p.Gln2265Lys) c.1558C>A (p.Gln520Lys) c.1519C>A (p.Gln507Lys) c.7033C>A (p.Gln2345Lys) c.6994C>A (p.Gln2332Lys) c.6979C>A (p.Gln2327Lys) c.6940C>A (p.Gln2314Lys) c.6892C>A (p.Gln2298Lys) c.6661C>A (p.Gln2221Lys) c.2698C>A (p.Gln900Lys) c.1582C>A (p.Gln528Lys) c.6796C>A (p.Gln2266Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.92077828C= | CA1725747785 | AKAP9 | c.6898C= (p.Gln2300=) c.6970C= (p.Gln2324=) c.391C= (p.Gln131=) c.1543C= (p.Gln515=) c.*6627C= (n.*6627C=) c.6874C= (p.Gln2292=) n.7096C= c.6844C= (p.Gln2282=) c.*6683C= (n.*6683C=) n.7120C= c.6640C= (p.Gln2214=) c.6721C= (p.Gln2241=) c.6805C= (p.Gln2269=) c.6757C= (p.Gln2253=) c.6937C= (p.Gln2313=) c.6931C= (p.Gln2311=) c.436C= (p.Gln146=) c.7045C= (p.Gln2349=) c.7069C= (p.Gln2357=) c.7009C= (p.Gln2337=) c.7006C= (p.Gln2336=) c.6991C= (p.Gln2331=) c.7030C= (p.Gln2344=) c.6949C= (p.Gln2317=) c.6904C= (p.Gln2302=) c.6934C= (p.Gln2312=) c.6910C= (p.Gln2304=) c.6793C= (p.Gln2265=) c.1558C= (p.Gln520=) c.1519C= (p.Gln507=) c.7033C= (p.Gln2345=) c.6994C= (p.Gln2332=) c.6979C= (p.Gln2327=) c.6940C= (p.Gln2314=) c.6892C= (p.Gln2298=) c.6661C= (p.Gln2221=) c.2698C= (p.Gln900=) c.1582C= (p.Gln528=) c.6796C= (p.Gln2266=) | |
| 7 | g.92077828C>G | CA4337187 | AKAP9 | c.6898C>G (p.Gln2300Glu) c.6970C>G (p.Gln2324Glu) c.391C>G (p.Gln131Glu) c.1543C>G (p.Gln515Glu) c.*6627C>G (n.*6627C>G) c.6874C>G (p.Gln2292Glu) n.7096C>G c.6844C>G (p.Gln2282Glu) c.*6683C>G (n.*6683C>G) n.7120C>G c.6640C>G (p.Gln2214Glu) c.6721C>G (p.Gln2241Glu) c.6805C>G (p.Gln2269Glu) c.6757C>G (p.Gln2253Glu) c.6937C>G (p.Gln2313Glu) c.6931C>G (p.Gln2311Glu) c.436C>G (p.Gln146Glu) c.7045C>G (p.Gln2349Glu) c.7069C>G (p.Gln2357Glu) c.7009C>G (p.Gln2337Glu) c.7006C>G (p.Gln2336Glu) c.6991C>G (p.Gln2331Glu) c.7030C>G (p.Gln2344Glu) c.6949C>G (p.Gln2317Glu) c.6904C>G (p.Gln2302Glu) c.6934C>G (p.Gln2312Glu) c.6910C>G (p.Gln2304Glu) c.6793C>G (p.Gln2265Glu) c.1558C>G (p.Gln520Glu) c.1519C>G (p.Gln507Glu) c.7033C>G (p.Gln2345Glu) c.6994C>G (p.Gln2332Glu) c.6979C>G (p.Gln2327Glu) c.6940C>G (p.Gln2314Glu) c.6892C>G (p.Gln2298Glu) c.6661C>G (p.Gln2221Glu) c.2698C>G (p.Gln900Glu) c.1582C>G (p.Gln528Glu) c.6796C>G (p.Gln2266Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.92077828C>T | CA368133839 | AKAP9 | c.6898C>T (p.Gln2300Ter) c.6970C>T (p.Gln2324Ter) c.391C>T (p.Gln131Ter) c.1543C>T (p.Gln515Ter) c.*6627C>T (n.*6627C>T) c.6874C>T (p.Gln2292Ter) n.7096C>T c.6844C>T (p.Gln2282Ter) c.*6683C>T (n.*6683C>T) n.7120C>T c.6640C>T (p.Gln2214Ter) c.6721C>T (p.Gln2241Ter) c.6805C>T (p.Gln2269Ter) c.6757C>T (p.Gln2253Ter) c.6937C>T (p.Gln2313Ter) c.6931C>T (p.Gln2311Ter) c.436C>T (p.Gln146Ter) c.7045C>T (p.Gln2349Ter) c.7069C>T (p.Gln2357Ter) c.7009C>T (p.Gln2337Ter) c.7006C>T (p.Gln2336Ter) c.6991C>T (p.Gln2331Ter) c.7030C>T (p.Gln2344Ter) c.6949C>T (p.Gln2317Ter) c.6904C>T (p.Gln2302Ter) c.6934C>T (p.Gln2312Ter) c.6910C>T (p.Gln2304Ter) c.6793C>T (p.Gln2265Ter) c.1558C>T (p.Gln520Ter) c.1519C>T (p.Gln507Ter) c.7033C>T (p.Gln2345Ter) c.6994C>T (p.Gln2332Ter) c.6979C>T (p.Gln2327Ter) c.6940C>T (p.Gln2314Ter) c.6892C>T (p.Gln2298Ter) c.6661C>T (p.Gln2221Ter) c.2698C>T (p.Gln900Ter) c.1582C>T (p.Gln528Ter) c.6796C>T (p.Gln2266Ter) | |
| 7 | g.92077829A= | CA1725747787 | AKAP9 | c.6899A= (p.Gln2300=) c.6971A= (p.Gln2324=) c.392A= (p.Gln131=) c.1544A= (p.Gln515=) c.*6628A= (n.*6628A=) c.6875A= (p.Gln2292=) n.7097A= c.6845A= (p.Gln2282=) c.*6684A= (n.*6684A=) n.7121A= c.6641A= (p.Gln2214=) c.6722A= (p.Gln2241=) c.6806A= (p.Gln2269=) c.6758A= (p.Gln2253=) c.6938A= (p.Gln2313=) c.6932A= (p.Gln2311=) c.437A= (p.Gln146=) c.7046A= (p.Gln2349=) c.7070A= (p.Gln2357=) c.7010A= (p.Gln2337=) c.7007A= (p.Gln2336=) c.6992A= (p.Gln2331=) c.7031A= (p.Gln2344=) c.6950A= (p.Gln2317=) c.6905A= (p.Gln2302=) c.6935A= (p.Gln2312=) c.6911A= (p.Gln2304=) c.6794A= (p.Gln2265=) c.1559A= (p.Gln520=) c.1520A= (p.Gln507=) c.7034A= (p.Gln2345=) c.6995A= (p.Gln2332=) c.6980A= (p.Gln2327=) c.6941A= (p.Gln2314=) c.6893A= (p.Gln2298=) c.6662A= (p.Gln2221=) c.2699A= (p.Gln900=) c.1583A= (p.Gln528=) c.6797A= (p.Gln2266=) | |
| 7 | g.92077829A>C | CA368133842 | AKAP9 | c.6899A>C (p.Gln2300Pro) c.6971A>C (p.Gln2324Pro) c.392A>C (p.Gln131Pro) c.1544A>C (p.Gln515Pro) c.*6628A>C (n.*6628A>C) c.6875A>C (p.Gln2292Pro) n.7097A>C c.6845A>C (p.Gln2282Pro) c.*6684A>C (n.*6684A>C) n.7121A>C c.6641A>C (p.Gln2214Pro) c.6722A>C (p.Gln2241Pro) c.6806A>C (p.Gln2269Pro) c.6758A>C (p.Gln2253Pro) c.6938A>C (p.Gln2313Pro) c.6932A>C (p.Gln2311Pro) c.437A>C (p.Gln146Pro) c.7046A>C (p.Gln2349Pro) c.7070A>C (p.Gln2357Pro) c.7010A>C (p.Gln2337Pro) c.7007A>C (p.Gln2336Pro) c.6992A>C (p.Gln2331Pro) c.7031A>C (p.Gln2344Pro) c.6950A>C (p.Gln2317Pro) c.6905A>C (p.Gln2302Pro) c.6935A>C (p.Gln2312Pro) c.6911A>C (p.Gln2304Pro) c.6794A>C (p.Gln2265Pro) c.1559A>C (p.Gln520Pro) c.1520A>C (p.Gln507Pro) c.7034A>C (p.Gln2345Pro) c.6995A>C (p.Gln2332Pro) c.6980A>C (p.Gln2327Pro) c.6941A>C (p.Gln2314Pro) c.6893A>C (p.Gln2298Pro) c.6662A>C (p.Gln2221Pro) c.2699A>C (p.Gln900Pro) c.1583A>C (p.Gln528Pro) c.6797A>C (p.Gln2266Pro) | |
| 7 | g.92077829A>G | CA368133841 | AKAP9 | c.6899A>G (p.Gln2300Arg) c.6971A>G (p.Gln2324Arg) c.392A>G (p.Gln131Arg) c.1544A>G (p.Gln515Arg) c.*6628A>G (n.*6628A>G) c.6875A>G (p.Gln2292Arg) n.7097A>G c.6845A>G (p.Gln2282Arg) c.*6684A>G (n.*6684A>G) n.7121A>G c.6641A>G (p.Gln2214Arg) c.6722A>G (p.Gln2241Arg) c.6806A>G (p.Gln2269Arg) c.6758A>G (p.Gln2253Arg) c.6938A>G (p.Gln2313Arg) c.6932A>G (p.Gln2311Arg) c.437A>G (p.Gln146Arg) c.7046A>G (p.Gln2349Arg) c.7070A>G (p.Gln2357Arg) c.7010A>G (p.Gln2337Arg) c.7007A>G (p.Gln2336Arg) c.6992A>G (p.Gln2331Arg) c.7031A>G (p.Gln2344Arg) c.6950A>G (p.Gln2317Arg) c.6905A>G (p.Gln2302Arg) c.6935A>G (p.Gln2312Arg) c.6911A>G (p.Gln2304Arg) c.6794A>G (p.Gln2265Arg) c.1559A>G (p.Gln520Arg) c.1520A>G (p.Gln507Arg) c.7034A>G (p.Gln2345Arg) c.6995A>G (p.Gln2332Arg) c.6980A>G (p.Gln2327Arg) c.6941A>G (p.Gln2314Arg) c.6893A>G (p.Gln2298Arg) c.6662A>G (p.Gln2221Arg) c.2699A>G (p.Gln900Arg) c.1583A>G (p.Gln528Arg) c.6797A>G (p.Gln2266Arg) | |
| 7 | g.92077829A>T | CA368133840 | AKAP9 | c.6899A>T (p.Gln2300Leu) c.6971A>T (p.Gln2324Leu) c.392A>T (p.Gln131Leu) c.1544A>T (p.Gln515Leu) c.*6628A>T (n.*6628A>T) c.6875A>T (p.Gln2292Leu) n.7097A>T c.6845A>T (p.Gln2282Leu) c.*6684A>T (n.*6684A>T) n.7121A>T c.6641A>T (p.Gln2214Leu) c.6722A>T (p.Gln2241Leu) c.6806A>T (p.Gln2269Leu) c.6758A>T (p.Gln2253Leu) c.6938A>T (p.Gln2313Leu) c.6932A>T (p.Gln2311Leu) c.437A>T (p.Gln146Leu) c.7046A>T (p.Gln2349Leu) c.7070A>T (p.Gln2357Leu) c.7010A>T (p.Gln2337Leu) c.7007A>T (p.Gln2336Leu) c.6992A>T (p.Gln2331Leu) c.7031A>T (p.Gln2344Leu) c.6950A>T (p.Gln2317Leu) c.6905A>T (p.Gln2302Leu) c.6935A>T (p.Gln2312Leu) c.6911A>T (p.Gln2304Leu) c.6794A>T (p.Gln2265Leu) c.1559A>T (p.Gln520Leu) c.1520A>T (p.Gln507Leu) c.7034A>T (p.Gln2345Leu) c.6995A>T (p.Gln2332Leu) c.6980A>T (p.Gln2327Leu) c.6941A>T (p.Gln2314Leu) c.6893A>T (p.Gln2298Leu) c.6662A>T (p.Gln2221Leu) c.2699A>T (p.Gln900Leu) c.1583A>T (p.Gln528Leu) c.6797A>T (p.Gln2266Leu) | |
| 7 | g.92077829_92077830insT | CA4337188 | AKAP9 | c.6899_6900insT (p.Gln2300HisfsTer10) c.6971_6972insT (p.Gln2324HisfsTer10) c.392_393insT (p.Gln131HisfsTer10) c.1544_1545insT (p.Gln515HisfsTer10) c.*6628_*6629insT (n.*6628_*6629insT) c.6875_6876insT (p.Gln2292HisfsTer10) n.7097_7098insT c.6845_6846insT (p.Gln2282HisfsTer10) c.*6684_*6685insT (n.*6684_*6685insT) n.7121_7122insT c.6641_6642insT (p.Gln2214HisfsTer10) c.6722_6723insT (p.Gln2241HisfsTer10) c.6806_6807insT (p.Gln2269HisfsTer10) c.6758_6759insT (p.Gln2253HisfsTer10) c.6938_6939insT (p.Gln2313HisfsTer10) c.6932_6933insT (p.Gln2311HisfsTer10) c.437_438insT (p.Gln146HisfsTer10) c.7046_7047insT (p.Gln2349HisfsTer10) c.7070_7071insT (p.Gln2357HisfsTer10) c.7010_7011insT (p.Gln2337HisfsTer10) c.7007_7008insT (p.Gln2336HisfsTer10) c.6992_6993insT (p.Gln2331HisfsTer10) c.7031_7032insT (p.Gln2344HisfsTer10) c.6950_6951insT (p.Gln2317HisfsTer10) c.6905_6906insT (p.Gln2302HisfsTer10) c.6935_6936insT (p.Gln2312HisfsTer10) c.6911_6912insT (p.Gln2304HisfsTer10) c.6794_6795insT (p.Gln2265HisfsTer10) c.1559_1560insT (p.Gln520HisfsTer10) c.1520_1521insT (p.Gln507HisfsTer10) c.7034_7035insT (p.Gln2345HisfsTer10) c.6995_6996insT (p.Gln2332HisfsTer10) c.6980_6981insT (p.Gln2327HisfsTer10) c.6941_6942insT (p.Gln2314HisfsTer10) c.6893_6894insT (p.Gln2298HisfsTer10) c.6662_6663insT (p.Gln2221HisfsTer10) c.2699_2700insT (p.Gln900HisfsTer10) c.1583_1584insT (p.Gln528HisfsTer10) c.6797_6798insT (p.Gln2266HisfsTer10) | dbSNP ExAC |
| 7 | g.92077830A>C | CA368133843 | AKAP9 | c.6900A>C (p.Gln2300His) c.6972A>C (p.Gln2324His) c.393A>C (p.Gln131His) c.1545A>C (p.Gln515His) c.*6629A>C (n.*6629A>C) c.6876A>C (p.Gln2292His) n.7098A>C c.6846A>C (p.Gln2282His) c.*6685A>C (n.*6685A>C) n.7122A>C c.6642A>C (p.Gln2214His) c.6723A>C (p.Gln2241His) c.6807A>C (p.Gln2269His) c.6759A>C (p.Gln2253His) c.6939A>C (p.Gln2313His) c.6933A>C (p.Gln2311His) c.438A>C (p.Gln146His) c.7047A>C (p.Gln2349His) c.7071A>C (p.Gln2357His) c.7011A>C (p.Gln2337His) c.7008A>C (p.Gln2336His) c.6993A>C (p.Gln2331His) c.7032A>C (p.Gln2344His) c.6951A>C (p.Gln2317His) c.6906A>C (p.Gln2302His) c.6936A>C (p.Gln2312His) c.6912A>C (p.Gln2304His) c.6795A>C (p.Gln2265His) c.1560A>C (p.Gln520His) c.1521A>C (p.Gln507His) c.7035A>C (p.Gln2345His) c.6996A>C (p.Gln2332His) c.6981A>C (p.Gln2327His) c.6942A>C (p.Gln2314His) c.6894A>C (p.Gln2298His) c.6663A>C (p.Gln2221His) c.2700A>C (p.Gln900His) c.1584A>C (p.Gln528His) c.6798A>C (p.Gln2266His) | |
| 7 | g.92077830A>G | CA456450481 | AKAP9 | c.6900A>G (p.Gln2300=) c.6972A>G (p.Gln2324=) c.393A>G (p.Gln131=) c.1545A>G (p.Gln515=) c.*6629A>G (n.*6629A>G) c.6876A>G (p.Gln2292=) n.7098A>G c.6846A>G (p.Gln2282=) c.*6685A>G (n.*6685A>G) n.7122A>G c.6642A>G (p.Gln2214=) c.6723A>G (p.Gln2241=) c.6807A>G (p.Gln2269=) c.6759A>G (p.Gln2253=) c.6939A>G (p.Gln2313=) c.6933A>G (p.Gln2311=) c.438A>G (p.Gln146=) c.7047A>G (p.Gln2349=) c.7071A>G (p.Gln2357=) c.7011A>G (p.Gln2337=) c.7008A>G (p.Gln2336=) c.6993A>G (p.Gln2331=) c.7032A>G (p.Gln2344=) c.6951A>G (p.Gln2317=) c.6906A>G (p.Gln2302=) c.6936A>G (p.Gln2312=) c.6912A>G (p.Gln2304=) c.6795A>G (p.Gln2265=) c.1560A>G (p.Gln520=) c.1521A>G (p.Gln507=) c.7035A>G (p.Gln2345=) c.6996A>G (p.Gln2332=) c.6981A>G (p.Gln2327=) c.6942A>G (p.Gln2314=) c.6894A>G (p.Gln2298=) c.6663A>G (p.Gln2221=) c.2700A>G (p.Gln900=) c.1584A>G (p.Gln528=) c.6798A>G (p.Gln2266=) | |
| 7 | g.92077830A>T | CA368133844 | AKAP9 | c.6900A>T (p.Gln2300His) c.6972A>T (p.Gln2324His) c.393A>T (p.Gln131His) c.1545A>T (p.Gln515His) c.*6629A>T (n.*6629A>T) c.6876A>T (p.Gln2292His) n.7098A>T c.6846A>T (p.Gln2282His) c.*6685A>T (n.*6685A>T) n.7122A>T c.6642A>T (p.Gln2214His) c.6723A>T (p.Gln2241His) c.6807A>T (p.Gln2269His) c.6759A>T (p.Gln2253His) c.6939A>T (p.Gln2313His) c.6933A>T (p.Gln2311His) c.438A>T (p.Gln146His) c.7047A>T (p.Gln2349His) c.7071A>T (p.Gln2357His) c.7011A>T (p.Gln2337His) c.7008A>T (p.Gln2336His) c.6993A>T (p.Gln2331His) c.7032A>T (p.Gln2344His) c.6951A>T (p.Gln2317His) c.6906A>T (p.Gln2302His) c.6936A>T (p.Gln2312His) c.6912A>T (p.Gln2304His) c.6795A>T (p.Gln2265His) c.1560A>T (p.Gln520His) c.1521A>T (p.Gln507His) c.7035A>T (p.Gln2345His) c.6996A>T (p.Gln2332His) c.6981A>T (p.Gln2327His) c.6942A>T (p.Gln2314His) c.6894A>T (p.Gln2298His) c.6663A>T (p.Gln2221His) c.2700A>T (p.Gln900His) c.1584A>T (p.Gln528His) c.6798A>T (p.Gln2266His) | |
| 7 | g.92077831G>A | CA4337189 | AKAP9 | c.6901G>A (p.Val2301Ile) c.6973G>A (p.Val2325Ile) c.394G>A (p.Val132Ile) c.1546G>A (p.Val516Ile) c.*6630G>A (n.*6630G>A) c.6877G>A (p.Val2293Ile) n.7099G>A c.6847G>A (p.Val2283Ile) c.*6686G>A (n.*6686G>A) n.7123G>A c.6643G>A (p.Val2215Ile) c.6724G>A (p.Val2242Ile) c.6808G>A (p.Val2270Ile) c.6760G>A (p.Val2254Ile) c.6940G>A (p.Val2314Ile) c.6934G>A (p.Val2312Ile) c.439G>A (p.Val147Ile) c.7048G>A (p.Val2350Ile) c.7072G>A (p.Val2358Ile) c.7012G>A (p.Val2338Ile) c.7009G>A (p.Val2337Ile) c.6994G>A (p.Val2332Ile) c.7033G>A (p.Val2345Ile) c.6952G>A (p.Val2318Ile) c.6907G>A (p.Val2303Ile) c.6937G>A (p.Val2313Ile) c.6913G>A (p.Val2305Ile) c.6796G>A (p.Val2266Ile) c.1561G>A (p.Val521Ile) c.1522G>A (p.Val508Ile) c.7036G>A (p.Val2346Ile) c.6997G>A (p.Val2333Ile) c.6982G>A (p.Val2328Ile) c.6943G>A (p.Val2315Ile) c.6895G>A (p.Val2299Ile) c.6664G>A (p.Val2222Ile) c.2701G>A (p.Val901Ile) c.1585G>A (p.Val529Ile) c.6799G>A (p.Val2267Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.92077831G>C | CA368133845 | AKAP9 | c.6901G>C (p.Val2301Leu) c.6973G>C (p.Val2325Leu) c.394G>C (p.Val132Leu) c.1546G>C (p.Val516Leu) c.*6630G>C (n.*6630G>C) c.6877G>C (p.Val2293Leu) n.7099G>C c.6847G>C (p.Val2283Leu) c.*6686G>C (n.*6686G>C) n.7123G>C c.6643G>C (p.Val2215Leu) c.6724G>C (p.Val2242Leu) c.6808G>C (p.Val2270Leu) c.6760G>C (p.Val2254Leu) c.6940G>C (p.Val2314Leu) c.6934G>C (p.Val2312Leu) c.439G>C (p.Val147Leu) c.7048G>C (p.Val2350Leu) c.7072G>C (p.Val2358Leu) c.7012G>C (p.Val2338Leu) c.7009G>C (p.Val2337Leu) c.6994G>C (p.Val2332Leu) c.7033G>C (p.Val2345Leu) c.6952G>C (p.Val2318Leu) c.6907G>C (p.Val2303Leu) c.6937G>C (p.Val2313Leu) c.6913G>C (p.Val2305Leu) c.6796G>C (p.Val2266Leu) c.1561G>C (p.Val521Leu) c.1522G>C (p.Val508Leu) c.7036G>C (p.Val2346Leu) c.6997G>C (p.Val2333Leu) c.6982G>C (p.Val2328Leu) c.6943G>C (p.Val2315Leu) c.6895G>C (p.Val2299Leu) c.6664G>C (p.Val2222Leu) c.2701G>C (p.Val901Leu) c.1585G>C (p.Val529Leu) c.6799G>C (p.Val2267Leu) | gnomAD v4 |
| 7 | g.92077831G= | CA1725747788 | AKAP9 | c.6901G= (p.Val2301=) c.6973G= (p.Val2325=) c.394G= (p.Val132=) c.1546G= (p.Val516=) c.*6630G= (n.*6630G=) c.6877G= (p.Val2293=) n.7099G= c.6847G= (p.Val2283=) c.*6686G= (n.*6686G=) n.7123G= c.6643G= (p.Val2215=) c.6724G= (p.Val2242=) c.6808G= (p.Val2270=) c.6760G= (p.Val2254=) c.6940G= (p.Val2314=) c.6934G= (p.Val2312=) c.439G= (p.Val147=) c.7048G= (p.Val2350=) c.7072G= (p.Val2358=) c.7012G= (p.Val2338=) c.7009G= (p.Val2337=) c.6994G= (p.Val2332=) c.7033G= (p.Val2345=) c.6952G= (p.Val2318=) c.6907G= (p.Val2303=) c.6937G= (p.Val2313=) c.6913G= (p.Val2305=) c.6796G= (p.Val2266=) c.1561G= (p.Val521=) c.1522G= (p.Val508=) c.7036G= (p.Val2346=) c.6997G= (p.Val2333=) c.6982G= (p.Val2328=) c.6943G= (p.Val2315=) c.6895G= (p.Val2299=) c.6664G= (p.Val2222=) c.2701G= (p.Val901=) c.1585G= (p.Val529=) c.6799G= (p.Val2267=) | |
| 7 | g.92077831G>T | CA368133846 | AKAP9 | c.6901G>T (p.Val2301Phe) c.6973G>T (p.Val2325Phe) c.394G>T (p.Val132Phe) c.1546G>T (p.Val516Phe) c.*6630G>T (n.*6630G>T) c.6877G>T (p.Val2293Phe) n.7099G>T c.6847G>T (p.Val2283Phe) c.*6686G>T (n.*6686G>T) n.7123G>T c.6643G>T (p.Val2215Phe) c.6724G>T (p.Val2242Phe) c.6808G>T (p.Val2270Phe) c.6760G>T (p.Val2254Phe) c.6940G>T (p.Val2314Phe) c.6934G>T (p.Val2312Phe) c.439G>T (p.Val147Phe) c.7048G>T (p.Val2350Phe) c.7072G>T (p.Val2358Phe) c.7012G>T (p.Val2338Phe) c.7009G>T (p.Val2337Phe) c.6994G>T (p.Val2332Phe) c.7033G>T (p.Val2345Phe) c.6952G>T (p.Val2318Phe) c.6907G>T (p.Val2303Phe) c.6937G>T (p.Val2313Phe) c.6913G>T (p.Val2305Phe) c.6796G>T (p.Val2266Phe) c.1561G>T (p.Val521Phe) c.1522G>T (p.Val508Phe) c.7036G>T (p.Val2346Phe) c.6997G>T (p.Val2333Phe) c.6982G>T (p.Val2328Phe) c.6943G>T (p.Val2315Phe) c.6895G>T (p.Val2299Phe) c.6664G>T (p.Val2222Phe) c.2701G>T (p.Val901Phe) c.1585G>T (p.Val529Phe) c.6799G>T (p.Val2267Phe) | gnomAD v4 |
| 7 | g.92077832T>A | CA368133847 | AKAP9 | c.6902T>A (p.Val2301Asp) c.6974T>A (p.Val2325Asp) c.395T>A (p.Val132Asp) c.1547T>A (p.Val516Asp) c.*6631T>A (n.*6631T>A) c.6878T>A (p.Val2293Asp) n.7100T>A c.6848T>A (p.Val2283Asp) c.*6687T>A (n.*6687T>A) n.7124T>A c.6644T>A (p.Val2215Asp) c.6725T>A (p.Val2242Asp) c.6809T>A (p.Val2270Asp) c.6761T>A (p.Val2254Asp) c.6941T>A (p.Val2314Asp) c.6935T>A (p.Val2312Asp) c.440T>A (p.Val147Asp) c.7049T>A (p.Val2350Asp) c.7073T>A (p.Val2358Asp) c.7013T>A (p.Val2338Asp) c.7010T>A (p.Val2337Asp) c.6995T>A (p.Val2332Asp) c.7034T>A (p.Val2345Asp) c.6953T>A (p.Val2318Asp) c.6908T>A (p.Val2303Asp) c.6938T>A (p.Val2313Asp) c.6914T>A (p.Val2305Asp) c.6797T>A (p.Val2266Asp) c.1562T>A (p.Val521Asp) c.1523T>A (p.Val508Asp) c.7037T>A (p.Val2346Asp) c.6998T>A (p.Val2333Asp) c.6983T>A (p.Val2328Asp) c.6944T>A (p.Val2315Asp) c.6896T>A (p.Val2299Asp) c.6665T>A (p.Val2222Asp) c.2702T>A (p.Val901Asp) c.1586T>A (p.Val529Asp) c.6800T>A (p.Val2267Asp) | |
| 7 | g.92077832T>C | CA368133848 | AKAP9 | c.6902T>C (p.Val2301Ala) c.6974T>C (p.Val2325Ala) c.395T>C (p.Val132Ala) c.1547T>C (p.Val516Ala) c.*6631T>C (n.*6631T>C) c.6878T>C (p.Val2293Ala) n.7100T>C c.6848T>C (p.Val2283Ala) c.*6687T>C (n.*6687T>C) n.7124T>C c.6644T>C (p.Val2215Ala) c.6725T>C (p.Val2242Ala) c.6809T>C (p.Val2270Ala) c.6761T>C (p.Val2254Ala) c.6941T>C (p.Val2314Ala) c.6935T>C (p.Val2312Ala) c.440T>C (p.Val147Ala) c.7049T>C (p.Val2350Ala) c.7073T>C (p.Val2358Ala) c.7013T>C (p.Val2338Ala) c.7010T>C (p.Val2337Ala) c.6995T>C (p.Val2332Ala) c.7034T>C (p.Val2345Ala) c.6953T>C (p.Val2318Ala) c.6908T>C (p.Val2303Ala) c.6938T>C (p.Val2313Ala) c.6914T>C (p.Val2305Ala) c.6797T>C (p.Val2266Ala) c.1562T>C (p.Val521Ala) c.1523T>C (p.Val508Ala) c.7037T>C (p.Val2346Ala) c.6998T>C (p.Val2333Ala) c.6983T>C (p.Val2328Ala) c.6944T>C (p.Val2315Ala) c.6896T>C (p.Val2299Ala) c.6665T>C (p.Val2222Ala) c.2702T>C (p.Val901Ala) c.1586T>C (p.Val529Ala) c.6800T>C (p.Val2267Ala) | |
| 7 | g.92077832T>G | CA368133849 | AKAP9 | c.6902T>G (p.Val2301Gly) c.6974T>G (p.Val2325Gly) c.395T>G (p.Val132Gly) c.1547T>G (p.Val516Gly) c.*6631T>G (n.*6631T>G) c.6878T>G (p.Val2293Gly) n.7100T>G c.6848T>G (p.Val2283Gly) c.*6687T>G (n.*6687T>G) n.7124T>G c.6644T>G (p.Val2215Gly) c.6725T>G (p.Val2242Gly) c.6809T>G (p.Val2270Gly) c.6761T>G (p.Val2254Gly) c.6941T>G (p.Val2314Gly) c.6935T>G (p.Val2312Gly) c.440T>G (p.Val147Gly) c.7049T>G (p.Val2350Gly) c.7073T>G (p.Val2358Gly) c.7013T>G (p.Val2338Gly) c.7010T>G (p.Val2337Gly) c.6995T>G (p.Val2332Gly) c.7034T>G (p.Val2345Gly) c.6953T>G (p.Val2318Gly) c.6908T>G (p.Val2303Gly) c.6938T>G (p.Val2313Gly) c.6914T>G (p.Val2305Gly) c.6797T>G (p.Val2266Gly) c.1562T>G (p.Val521Gly) c.1523T>G (p.Val508Gly) c.7037T>G (p.Val2346Gly) c.6998T>G (p.Val2333Gly) c.6983T>G (p.Val2328Gly) c.6944T>G (p.Val2315Gly) c.6896T>G (p.Val2299Gly) c.6665T>G (p.Val2222Gly) c.2702T>G (p.Val901Gly) c.1586T>G (p.Val529Gly) c.6800T>G (p.Val2267Gly) | |
| 7 | g.92077833T>A | CA456450486 | AKAP9 | c.6903T>A (p.Val2301=) c.6975T>A (p.Val2325=) c.396T>A (p.Val132=) c.1548T>A (p.Val516=) c.*6632T>A (n.*6632T>A) c.6879T>A (p.Val2293=) n.7101T>A c.6849T>A (p.Val2283=) c.*6688T>A (n.*6688T>A) n.7125T>A c.6645T>A (p.Val2215=) c.6726T>A (p.Val2242=) c.6810T>A (p.Val2270=) c.6762T>A (p.Val2254=) c.6942T>A (p.Val2314=) c.6936T>A (p.Val2312=) c.441T>A (p.Val147=) c.7050T>A (p.Val2350=) c.7074T>A (p.Val2358=) c.7014T>A (p.Val2338=) c.7011T>A (p.Val2337=) c.6996T>A (p.Val2332=) c.7035T>A (p.Val2345=) c.6954T>A (p.Val2318=) c.6909T>A (p.Val2303=) c.6939T>A (p.Val2313=) c.6915T>A (p.Val2305=) c.6798T>A (p.Val2266=) c.1563T>A (p.Val521=) c.1524T>A (p.Val508=) c.7038T>A (p.Val2346=) c.6999T>A (p.Val2333=) c.6984T>A (p.Val2328=) c.6945T>A (p.Val2315=) c.6897T>A (p.Val2299=) c.6666T>A (p.Val2222=) c.2703T>A (p.Val901=) c.1587T>A (p.Val529=) c.6801T>A (p.Val2267=) | |
| 7 | g.92077833T>C | CA456450488 | AKAP9 | c.6903T>C (p.Val2301=) c.6975T>C (p.Val2325=) c.396T>C (p.Val132=) c.1548T>C (p.Val516=) c.*6632T>C (n.*6632T>C) c.6879T>C (p.Val2293=) n.7101T>C c.6849T>C (p.Val2283=) c.*6688T>C (n.*6688T>C) n.7125T>C c.6645T>C (p.Val2215=) c.6726T>C (p.Val2242=) c.6810T>C (p.Val2270=) c.6762T>C (p.Val2254=) c.6942T>C (p.Val2314=) c.6936T>C (p.Val2312=) c.441T>C (p.Val147=) c.7050T>C (p.Val2350=) c.7074T>C (p.Val2358=) c.7014T>C (p.Val2338=) c.7011T>C (p.Val2337=) c.6996T>C (p.Val2332=) c.7035T>C (p.Val2345=) c.6954T>C (p.Val2318=) c.6909T>C (p.Val2303=) c.6939T>C (p.Val2313=) c.6915T>C (p.Val2305=) c.6798T>C (p.Val2266=) c.1563T>C (p.Val521=) c.1524T>C (p.Val508=) c.7038T>C (p.Val2346=) c.6999T>C (p.Val2333=) c.6984T>C (p.Val2328=) c.6945T>C (p.Val2315=) c.6897T>C (p.Val2299=) c.6666T>C (p.Val2222=) c.2703T>C (p.Val901=) c.1587T>C (p.Val529=) c.6801T>C (p.Val2267=) | |
| 7 | g.92077833T>G | CA456450487 | AKAP9 | c.6903T>G (p.Val2301=) c.6975T>G (p.Val2325=) c.396T>G (p.Val132=) c.1548T>G (p.Val516=) c.*6632T>G (n.*6632T>G) c.6879T>G (p.Val2293=) n.7101T>G c.6849T>G (p.Val2283=) c.*6688T>G (n.*6688T>G) n.7125T>G c.6645T>G (p.Val2215=) c.6726T>G (p.Val2242=) c.6810T>G (p.Val2270=) c.6762T>G (p.Val2254=) c.6942T>G (p.Val2314=) c.6936T>G (p.Val2312=) c.441T>G (p.Val147=) c.7050T>G (p.Val2350=) c.7074T>G (p.Val2358=) c.7014T>G (p.Val2338=) c.7011T>G (p.Val2337=) c.6996T>G (p.Val2332=) c.7035T>G (p.Val2345=) c.6954T>G (p.Val2318=) c.6909T>G (p.Val2303=) c.6939T>G (p.Val2313=) c.6915T>G (p.Val2305=) c.6798T>G (p.Val2266=) c.1563T>G (p.Val521=) c.1524T>G (p.Val508=) c.7038T>G (p.Val2346=) c.6999T>G (p.Val2333=) c.6984T>G (p.Val2328=) c.6945T>G (p.Val2315=) c.6897T>G (p.Val2299=) c.6666T>G (p.Val2222=) c.2703T>G (p.Val901=) c.1587T>G (p.Val529=) c.6801T>G (p.Val2267=) | |
| 7 | g.92077834A>C | CA368133850 | AKAP9 | c.6904A>C (p.Thr2302Pro) c.6976A>C (p.Thr2326Pro) c.397A>C (p.Thr133Pro) c.1549A>C (p.Thr517Pro) c.*6633A>C (n.*6633A>C) c.6880A>C (p.Thr2294Pro) n.7102A>C c.6850A>C (p.Thr2284Pro) c.*6689A>C (n.*6689A>C) n.7126A>C c.6646A>C (p.Thr2216Pro) c.6727A>C (p.Thr2243Pro) c.6811A>C (p.Thr2271Pro) c.6763A>C (p.Thr2255Pro) c.6943A>C (p.Thr2315Pro) c.6937A>C (p.Thr2313Pro) c.442A>C (p.Thr148Pro) c.7051A>C (p.Thr2351Pro) c.7075A>C (p.Thr2359Pro) c.7015A>C (p.Thr2339Pro) c.7012A>C (p.Thr2338Pro) c.6997A>C (p.Thr2333Pro) c.7036A>C (p.Thr2346Pro) c.6955A>C (p.Thr2319Pro) c.6910A>C (p.Thr2304Pro) c.6940A>C (p.Thr2314Pro) c.6916A>C (p.Thr2306Pro) c.6799A>C (p.Thr2267Pro) c.1564A>C (p.Thr522Pro) c.1525A>C (p.Thr509Pro) c.7039A>C (p.Thr2347Pro) c.7000A>C (p.Thr2334Pro) c.6985A>C (p.Thr2329Pro) c.6946A>C (p.Thr2316Pro) c.6898A>C (p.Thr2300Pro) c.6667A>C (p.Thr2223Pro) c.2704A>C (p.Thr902Pro) c.1588A>C (p.Thr530Pro) c.6802A>C (p.Thr2268Pro) | |
| 7 | g.92077834A>G | CA368133851 | AKAP9 | c.6904A>G (p.Thr2302Ala) c.6976A>G (p.Thr2326Ala) c.397A>G (p.Thr133Ala) c.1549A>G (p.Thr517Ala) c.*6633A>G (n.*6633A>G) c.6880A>G (p.Thr2294Ala) n.7102A>G c.6850A>G (p.Thr2284Ala) c.*6689A>G (n.*6689A>G) n.7126A>G c.6646A>G (p.Thr2216Ala) c.6727A>G (p.Thr2243Ala) c.6811A>G (p.Thr2271Ala) c.6763A>G (p.Thr2255Ala) c.6943A>G (p.Thr2315Ala) c.6937A>G (p.Thr2313Ala) c.442A>G (p.Thr148Ala) c.7051A>G (p.Thr2351Ala) c.7075A>G (p.Thr2359Ala) c.7015A>G (p.Thr2339Ala) c.7012A>G (p.Thr2338Ala) c.6997A>G (p.Thr2333Ala) c.7036A>G (p.Thr2346Ala) c.6955A>G (p.Thr2319Ala) c.6910A>G (p.Thr2304Ala) c.6940A>G (p.Thr2314Ala) c.6916A>G (p.Thr2306Ala) c.6799A>G (p.Thr2267Ala) c.1564A>G (p.Thr522Ala) c.1525A>G (p.Thr509Ala) c.7039A>G (p.Thr2347Ala) c.7000A>G (p.Thr2334Ala) c.6985A>G (p.Thr2329Ala) c.6946A>G (p.Thr2316Ala) c.6898A>G (p.Thr2300Ala) c.6667A>G (p.Thr2223Ala) c.2704A>G (p.Thr902Ala) c.1588A>G (p.Thr530Ala) c.6802A>G (p.Thr2268Ala) | |
| 7 | g.92077834A>T | CA368133852 | AKAP9 | c.6904A>T (p.Thr2302Ser) c.6976A>T (p.Thr2326Ser) c.397A>T (p.Thr133Ser) c.1549A>T (p.Thr517Ser) c.*6633A>T (n.*6633A>T) c.6880A>T (p.Thr2294Ser) n.7102A>T c.6850A>T (p.Thr2284Ser) c.*6689A>T (n.*6689A>T) n.7126A>T c.6646A>T (p.Thr2216Ser) c.6727A>T (p.Thr2243Ser) c.6811A>T (p.Thr2271Ser) c.6763A>T (p.Thr2255Ser) c.6943A>T (p.Thr2315Ser) c.6937A>T (p.Thr2313Ser) c.442A>T (p.Thr148Ser) c.7051A>T (p.Thr2351Ser) c.7075A>T (p.Thr2359Ser) c.7015A>T (p.Thr2339Ser) c.7012A>T (p.Thr2338Ser) c.6997A>T (p.Thr2333Ser) c.7036A>T (p.Thr2346Ser) c.6955A>T (p.Thr2319Ser) c.6910A>T (p.Thr2304Ser) c.6940A>T (p.Thr2314Ser) c.6916A>T (p.Thr2306Ser) c.6799A>T (p.Thr2267Ser) c.1564A>T (p.Thr522Ser) c.1525A>T (p.Thr509Ser) c.7039A>T (p.Thr2347Ser) c.7000A>T (p.Thr2334Ser) c.6985A>T (p.Thr2329Ser) c.6946A>T (p.Thr2316Ser) c.6898A>T (p.Thr2300Ser) c.6667A>T (p.Thr2223Ser) c.2704A>T (p.Thr902Ser) c.1588A>T (p.Thr530Ser) c.6802A>T (p.Thr2268Ser) | |
| 7 | g.92077835C>A | CA368133853 | AKAP9 | c.6905C>A (p.Thr2302Lys) c.6977C>A (p.Thr2326Lys) c.398C>A (p.Thr133Lys) c.1550C>A (p.Thr517Lys) c.*6634C>A (n.*6634C>A) c.6881C>A (p.Thr2294Lys) n.7103C>A c.6851C>A (p.Thr2284Lys) c.*6690C>A (n.*6690C>A) n.7127C>A c.6647C>A (p.Thr2216Lys) c.6728C>A (p.Thr2243Lys) c.6812C>A (p.Thr2271Lys) c.6764C>A (p.Thr2255Lys) c.6944C>A (p.Thr2315Lys) c.6938C>A (p.Thr2313Lys) c.443C>A (p.Thr148Lys) c.7052C>A (p.Thr2351Lys) c.7076C>A (p.Thr2359Lys) c.7016C>A (p.Thr2339Lys) c.7013C>A (p.Thr2338Lys) c.6998C>A (p.Thr2333Lys) c.7037C>A (p.Thr2346Lys) c.6956C>A (p.Thr2319Lys) c.6911C>A (p.Thr2304Lys) c.6941C>A (p.Thr2314Lys) c.6917C>A (p.Thr2306Lys) c.6800C>A (p.Thr2267Lys) c.1565C>A (p.Thr522Lys) c.1526C>A (p.Thr509Lys) c.7040C>A (p.Thr2347Lys) c.7001C>A (p.Thr2334Lys) c.6986C>A (p.Thr2329Lys) c.6947C>A (p.Thr2316Lys) c.6899C>A (p.Thr2300Lys) c.6668C>A (p.Thr2223Lys) c.2705C>A (p.Thr902Lys) c.1589C>A (p.Thr530Lys) c.6803C>A (p.Thr2268Lys) | |
| 7 | g.92077835C= | CA1725747792 | AKAP9 | c.6905C= (p.Thr2302=) c.6977C= (p.Thr2326=) c.398C= (p.Thr133=) c.1550C= (p.Thr517=) c.*6634C= (n.*6634C=) c.6881C= (p.Thr2294=) n.7103C= c.6851C= (p.Thr2284=) c.*6690C= (n.*6690C=) n.7127C= c.6647C= (p.Thr2216=) c.6728C= (p.Thr2243=) c.6812C= (p.Thr2271=) c.6764C= (p.Thr2255=) c.6944C= (p.Thr2315=) c.6938C= (p.Thr2313=) c.443C= (p.Thr148=) c.7052C= (p.Thr2351=) c.7076C= (p.Thr2359=) c.7016C= (p.Thr2339=) c.7013C= (p.Thr2338=) c.6998C= (p.Thr2333=) c.7037C= (p.Thr2346=) c.6956C= (p.Thr2319=) c.6911C= (p.Thr2304=) c.6941C= (p.Thr2314=) c.6917C= (p.Thr2306=) c.6800C= (p.Thr2267=) c.1565C= (p.Thr522=) c.1526C= (p.Thr509=) c.7040C= (p.Thr2347=) c.7001C= (p.Thr2334=) c.6986C= (p.Thr2329=) c.6947C= (p.Thr2316=) c.6899C= (p.Thr2300=) c.6668C= (p.Thr2223=) c.2705C= (p.Thr902=) c.1589C= (p.Thr530=) c.6803C= (p.Thr2268=) | |
| 7 | g.92077835C>G | CA4337191 | AKAP9 | c.6905C>G (p.Thr2302Arg) c.6977C>G (p.Thr2326Arg) c.398C>G (p.Thr133Arg) c.1550C>G (p.Thr517Arg) c.*6634C>G (n.*6634C>G) c.6881C>G (p.Thr2294Arg) n.7103C>G c.6851C>G (p.Thr2284Arg) c.*6690C>G (n.*6690C>G) n.7127C>G c.6647C>G (p.Thr2216Arg) c.6728C>G (p.Thr2243Arg) c.6812C>G (p.Thr2271Arg) c.6764C>G (p.Thr2255Arg) c.6944C>G (p.Thr2315Arg) c.6938C>G (p.Thr2313Arg) c.443C>G (p.Thr148Arg) c.7052C>G (p.Thr2351Arg) c.7076C>G (p.Thr2359Arg) c.7016C>G (p.Thr2339Arg) c.7013C>G (p.Thr2338Arg) c.6998C>G (p.Thr2333Arg) c.7037C>G (p.Thr2346Arg) c.6956C>G (p.Thr2319Arg) c.6911C>G (p.Thr2304Arg) c.6941C>G (p.Thr2314Arg) c.6917C>G (p.Thr2306Arg) c.6800C>G (p.Thr2267Arg) c.1565C>G (p.Thr522Arg) c.1526C>G (p.Thr509Arg) c.7040C>G (p.Thr2347Arg) c.7001C>G (p.Thr2334Arg) c.6986C>G (p.Thr2329Arg) c.6947C>G (p.Thr2316Arg) c.6899C>G (p.Thr2300Arg) c.6668C>G (p.Thr2223Arg) c.2705C>G (p.Thr902Arg) c.1589C>G (p.Thr530Arg) c.6803C>G (p.Thr2268Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.92077835C>T | CA4337190 | AKAP9 | c.6905C>T (p.Thr2302Met) c.6977C>T (p.Thr2326Met) c.398C>T (p.Thr133Met) c.1550C>T (p.Thr517Met) c.*6634C>T (n.*6634C>T) c.6881C>T (p.Thr2294Met) n.7103C>T c.6851C>T (p.Thr2284Met) c.*6690C>T (n.*6690C>T) n.7127C>T c.6647C>T (p.Thr2216Met) c.6728C>T (p.Thr2243Met) c.6812C>T (p.Thr2271Met) c.6764C>T (p.Thr2255Met) c.6944C>T (p.Thr2315Met) c.6938C>T (p.Thr2313Met) c.443C>T (p.Thr148Met) c.7052C>T (p.Thr2351Met) c.7076C>T (p.Thr2359Met) c.7016C>T (p.Thr2339Met) c.7013C>T (p.Thr2338Met) c.6998C>T (p.Thr2333Met) c.7037C>T (p.Thr2346Met) c.6956C>T (p.Thr2319Met) c.6911C>T (p.Thr2304Met) c.6941C>T (p.Thr2314Met) c.6917C>T (p.Thr2306Met) c.6800C>T (p.Thr2267Met) c.1565C>T (p.Thr522Met) c.1526C>T (p.Thr509Met) c.7040C>T (p.Thr2347Met) c.7001C>T (p.Thr2334Met) c.6986C>T (p.Thr2329Met) c.6947C>T (p.Thr2316Met) c.6899C>T (p.Thr2300Met) c.6668C>T (p.Thr2223Met) c.2705C>T (p.Thr902Met) c.1589C>T (p.Thr530Met) c.6803C>T (p.Thr2268Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.92077836G>A | CA4337192 | AKAP9 | c.6906G>A (p.Thr2302=) c.6978G>A (p.Thr2326=) c.399G>A (p.Thr133=) c.1551G>A (p.Thr517=) c.*6635G>A (n.*6635G>A) c.6882G>A (p.Thr2294=) n.7104G>A c.6852G>A (p.Thr2284=) c.*6691G>A (n.*6691G>A) n.7128G>A c.6648G>A (p.Thr2216=) c.6729G>A (p.Thr2243=) c.6813G>A (p.Thr2271=) c.6765G>A (p.Thr2255=) c.6945G>A (p.Thr2315=) c.6939G>A (p.Thr2313=) c.444G>A (p.Thr148=) c.7053G>A (p.Thr2351=) c.7077G>A (p.Thr2359=) c.7017G>A (p.Thr2339=) c.7014G>A (p.Thr2338=) c.6999G>A (p.Thr2333=) c.7038G>A (p.Thr2346=) c.6957G>A (p.Thr2319=) c.6912G>A (p.Thr2304=) c.6942G>A (p.Thr2314=) c.6918G>A (p.Thr2306=) c.6801G>A (p.Thr2267=) c.1566G>A (p.Thr522=) c.1527G>A (p.Thr509=) c.7041G>A (p.Thr2347=) c.7002G>A (p.Thr2334=) c.6987G>A (p.Thr2329=) c.6948G>A (p.Thr2316=) c.6900G>A (p.Thr2300=) c.6669G>A (p.Thr2223=) c.2706G>A (p.Thr902=) c.1590G>A (p.Thr530=) c.6804G>A (p.Thr2268=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.92077836G>C | CA456450491 | AKAP9 | c.6906G>C (p.Thr2302=) c.6978G>C (p.Thr2326=) c.399G>C (p.Thr133=) c.1551G>C (p.Thr517=) c.*6635G>C (n.*6635G>C) c.6882G>C (p.Thr2294=) n.7104G>C c.6852G>C (p.Thr2284=) c.*6691G>C (n.*6691G>C) n.7128G>C c.6648G>C (p.Thr2216=) c.6729G>C (p.Thr2243=) c.6813G>C (p.Thr2271=) c.6765G>C (p.Thr2255=) c.6945G>C (p.Thr2315=) c.6939G>C (p.Thr2313=) c.444G>C (p.Thr148=) c.7053G>C (p.Thr2351=) c.7077G>C (p.Thr2359=) c.7017G>C (p.Thr2339=) c.7014G>C (p.Thr2338=) c.6999G>C (p.Thr2333=) c.7038G>C (p.Thr2346=) c.6957G>C (p.Thr2319=) c.6912G>C (p.Thr2304=) c.6942G>C (p.Thr2314=) c.6918G>C (p.Thr2306=) c.6801G>C (p.Thr2267=) c.1566G>C (p.Thr522=) c.1527G>C (p.Thr509=) c.7041G>C (p.Thr2347=) c.7002G>C (p.Thr2334=) c.6987G>C (p.Thr2329=) c.6948G>C (p.Thr2316=) c.6900G>C (p.Thr2300=) c.6669G>C (p.Thr2223=) c.2706G>C (p.Thr902=) c.1590G>C (p.Thr530=) c.6804G>C (p.Thr2268=) | |
| 7 | g.92077836G= | CA1725747796 | AKAP9 | c.6906G= (p.Thr2302=) c.6978G= (p.Thr2326=) c.399G= (p.Thr133=) c.1551G= (p.Thr517=) c.*6635G= (n.*6635G=) c.6882G= (p.Thr2294=) n.7104G= c.6852G= (p.Thr2284=) c.*6691G= (n.*6691G=) n.7128G= c.6648G= (p.Thr2216=) c.6729G= (p.Thr2243=) c.6813G= (p.Thr2271=) c.6765G= (p.Thr2255=) c.6945G= (p.Thr2315=) c.6939G= (p.Thr2313=) c.444G= (p.Thr148=) c.7053G= (p.Thr2351=) c.7077G= (p.Thr2359=) c.7017G= (p.Thr2339=) c.7014G= (p.Thr2338=) c.6999G= (p.Thr2333=) c.7038G= (p.Thr2346=) c.6957G= (p.Thr2319=) c.6912G= (p.Thr2304=) c.6942G= (p.Thr2314=) c.6918G= (p.Thr2306=) c.6801G= (p.Thr2267=) c.1566G= (p.Thr522=) c.1527G= (p.Thr509=) c.7041G= (p.Thr2347=) c.7002G= (p.Thr2334=) c.6987G= (p.Thr2329=) c.6948G= (p.Thr2316=) c.6900G= (p.Thr2300=) c.6669G= (p.Thr2223=) c.2706G= (p.Thr902=) c.1590G= (p.Thr530=) c.6804G= (p.Thr2268=) | |
| 7 | g.92077836G>T | CA456450492 | AKAP9 | c.6906G>T (p.Thr2302=) c.6978G>T (p.Thr2326=) c.399G>T (p.Thr133=) c.1551G>T (p.Thr517=) c.*6635G>T (n.*6635G>T) c.6882G>T (p.Thr2294=) n.7104G>T c.6852G>T (p.Thr2284=) c.*6691G>T (n.*6691G>T) n.7128G>T c.6648G>T (p.Thr2216=) c.6729G>T (p.Thr2243=) c.6813G>T (p.Thr2271=) c.6765G>T (p.Thr2255=) c.6945G>T (p.Thr2315=) c.6939G>T (p.Thr2313=) c.444G>T (p.Thr148=) c.7053G>T (p.Thr2351=) c.7077G>T (p.Thr2359=) c.7017G>T (p.Thr2339=) c.7014G>T (p.Thr2338=) c.6999G>T (p.Thr2333=) c.7038G>T (p.Thr2346=) c.6957G>T (p.Thr2319=) c.6912G>T (p.Thr2304=) c.6942G>T (p.Thr2314=) c.6918G>T (p.Thr2306=) c.6801G>T (p.Thr2267=) c.1566G>T (p.Thr522=) c.1527G>T (p.Thr509=) c.7041G>T (p.Thr2347=) c.7002G>T (p.Thr2334=) c.6987G>T (p.Thr2329=) c.6948G>T (p.Thr2316=) c.6900G>T (p.Thr2300=) c.6669G>T (p.Thr2223=) c.2706G>T (p.Thr902=) c.1590G>T (p.Thr530=) c.6804G>T (p.Thr2268=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.92077837A= | CA1725747798 | AKAP9 | c.6907A= (p.Lys2303=) c.6979A= (p.Lys2327=) c.400A= (p.Lys134=) c.1552A= (p.Lys518=) c.*6636A= (n.*6636A=) c.6883A= (p.Lys2295=) n.7105A= c.6853A= (p.Lys2285=) c.*6692A= (n.*6692A=) n.7129A= c.6649A= (p.Lys2217=) c.6730A= (p.Lys2244=) c.6814A= (p.Lys2272=) c.6766A= (p.Lys2256=) c.6946A= (p.Lys2316=) c.6940A= (p.Lys2314=) c.445A= (p.Lys149=) c.7054A= (p.Lys2352=) c.7078A= (p.Lys2360=) c.7018A= (p.Lys2340=) c.7015A= (p.Lys2339=) c.7000A= (p.Lys2334=) c.7039A= (p.Lys2347=) c.6958A= (p.Lys2320=) c.6913A= (p.Lys2305=) c.6943A= (p.Lys2315=) c.6919A= (p.Lys2307=) c.6802A= (p.Lys2268=) c.1567A= (p.Lys523=) c.1528A= (p.Lys510=) c.7042A= (p.Lys2348=) c.7003A= (p.Lys2335=) c.6988A= (p.Lys2330=) c.6949A= (p.Lys2317=) c.6901A= (p.Lys2301=) c.6670A= (p.Lys2224=) c.2707A= (p.Lys903=) c.1591A= (p.Lys531=) c.6805A= (p.Lys2269=) | |
| 7 | g.92077837A>C | CA368133854 | AKAP9 | c.6907A>C (p.Lys2303Gln) c.6979A>C (p.Lys2327Gln) c.400A>C (p.Lys134Gln) c.1552A>C (p.Lys518Gln) c.*6636A>C (n.*6636A>C) c.6883A>C (p.Lys2295Gln) n.7105A>C c.6853A>C (p.Lys2285Gln) c.*6692A>C (n.*6692A>C) n.7129A>C c.6649A>C (p.Lys2217Gln) c.6730A>C (p.Lys2244Gln) c.6814A>C (p.Lys2272Gln) c.6766A>C (p.Lys2256Gln) c.6946A>C (p.Lys2316Gln) c.6940A>C (p.Lys2314Gln) c.445A>C (p.Lys149Gln) c.7054A>C (p.Lys2352Gln) c.7078A>C (p.Lys2360Gln) c.7018A>C (p.Lys2340Gln) c.7015A>C (p.Lys2339Gln) c.7000A>C (p.Lys2334Gln) c.7039A>C (p.Lys2347Gln) c.6958A>C (p.Lys2320Gln) c.6913A>C (p.Lys2305Gln) c.6943A>C (p.Lys2315Gln) c.6919A>C (p.Lys2307Gln) c.6802A>C (p.Lys2268Gln) c.1567A>C (p.Lys523Gln) c.1528A>C (p.Lys510Gln) c.7042A>C (p.Lys2348Gln) c.7003A>C (p.Lys2335Gln) c.6988A>C (p.Lys2330Gln) c.6949A>C (p.Lys2317Gln) c.6901A>C (p.Lys2301Gln) c.6670A>C (p.Lys2224Gln) c.2707A>C (p.Lys903Gln) c.1591A>C (p.Lys531Gln) c.6805A>C (p.Lys2269Gln) | |
| 7 | g.92077837A>G | CA368133855 | AKAP9 | c.6907A>G (p.Lys2303Glu) c.6979A>G (p.Lys2327Glu) c.400A>G (p.Lys134Glu) c.1552A>G (p.Lys518Glu) c.*6636A>G (n.*6636A>G) c.6883A>G (p.Lys2295Glu) n.7105A>G c.6853A>G (p.Lys2285Glu) c.*6692A>G (n.*6692A>G) n.7129A>G c.6649A>G (p.Lys2217Glu) c.6730A>G (p.Lys2244Glu) c.6814A>G (p.Lys2272Glu) c.6766A>G (p.Lys2256Glu) c.6946A>G (p.Lys2316Glu) c.6940A>G (p.Lys2314Glu) c.445A>G (p.Lys149Glu) c.7054A>G (p.Lys2352Glu) c.7078A>G (p.Lys2360Glu) c.7018A>G (p.Lys2340Glu) c.7015A>G (p.Lys2339Glu) c.7000A>G (p.Lys2334Glu) c.7039A>G (p.Lys2347Glu) c.6958A>G (p.Lys2320Glu) c.6913A>G (p.Lys2305Glu) c.6943A>G (p.Lys2315Glu) c.6919A>G (p.Lys2307Glu) c.6802A>G (p.Lys2268Glu) c.1567A>G (p.Lys523Glu) c.1528A>G (p.Lys510Glu) c.7042A>G (p.Lys2348Glu) c.7003A>G (p.Lys2335Glu) c.6988A>G (p.Lys2330Glu) c.6949A>G (p.Lys2317Glu) c.6901A>G (p.Lys2301Glu) c.6670A>G (p.Lys2224Glu) c.2707A>G (p.Lys903Glu) c.1591A>G (p.Lys531Glu) c.6805A>G (p.Lys2269Glu) | |
| 7 | g.92077837A>T | CA368133856 | AKAP9 | c.6907A>T (p.Lys2303Ter) c.6979A>T (p.Lys2327Ter) c.400A>T (p.Lys134Ter) c.1552A>T (p.Lys518Ter) c.*6636A>T (n.*6636A>T) c.6883A>T (p.Lys2295Ter) n.7105A>T c.6853A>T (p.Lys2285Ter) c.*6692A>T (n.*6692A>T) n.7129A>T c.6649A>T (p.Lys2217Ter) c.6730A>T (p.Lys2244Ter) c.6814A>T (p.Lys2272Ter) c.6766A>T (p.Lys2256Ter) c.6946A>T (p.Lys2316Ter) c.6940A>T (p.Lys2314Ter) c.445A>T (p.Lys149Ter) c.7054A>T (p.Lys2352Ter) c.7078A>T (p.Lys2360Ter) c.7018A>T (p.Lys2340Ter) c.7015A>T (p.Lys2339Ter) c.7000A>T (p.Lys2334Ter) c.7039A>T (p.Lys2347Ter) c.6958A>T (p.Lys2320Ter) c.6913A>T (p.Lys2305Ter) c.6943A>T (p.Lys2315Ter) c.6919A>T (p.Lys2307Ter) c.6802A>T (p.Lys2268Ter) c.1567A>T (p.Lys523Ter) c.1528A>T (p.Lys510Ter) c.7042A>T (p.Lys2348Ter) c.7003A>T (p.Lys2335Ter) c.6988A>T (p.Lys2330Ter) c.6949A>T (p.Lys2317Ter) c.6901A>T (p.Lys2301Ter) c.6670A>T (p.Lys2224Ter) c.2707A>T (p.Lys903Ter) c.1591A>T (p.Lys531Ter) c.6805A>T (p.Lys2269Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.92077838A>C | CA368133857 | AKAP9 | c.6908A>C (p.Lys2303Thr) c.6980A>C (p.Lys2327Thr) c.401A>C (p.Lys134Thr) c.1553A>C (p.Lys518Thr) c.*6637A>C (n.*6637A>C) c.6884A>C (p.Lys2295Thr) n.7106A>C c.6854A>C (p.Lys2285Thr) c.*6693A>C (n.*6693A>C) n.7130A>C c.6650A>C (p.Lys2217Thr) c.6731A>C (p.Lys2244Thr) c.6815A>C (p.Lys2272Thr) c.6767A>C (p.Lys2256Thr) c.6947A>C (p.Lys2316Thr) c.6941A>C (p.Lys2314Thr) c.446A>C (p.Lys149Thr) c.7055A>C (p.Lys2352Thr) c.7079A>C (p.Lys2360Thr) c.7019A>C (p.Lys2340Thr) c.7016A>C (p.Lys2339Thr) c.7001A>C (p.Lys2334Thr) c.7040A>C (p.Lys2347Thr) c.6959A>C (p.Lys2320Thr) c.6914A>C (p.Lys2305Thr) c.6944A>C (p.Lys2315Thr) c.6920A>C (p.Lys2307Thr) c.6803A>C (p.Lys2268Thr) c.1568A>C (p.Lys523Thr) c.1529A>C (p.Lys510Thr) c.7043A>C (p.Lys2348Thr) c.7004A>C (p.Lys2335Thr) c.6989A>C (p.Lys2330Thr) c.6950A>C (p.Lys2317Thr) c.6902A>C (p.Lys2301Thr) c.6671A>C (p.Lys2224Thr) c.2708A>C (p.Lys903Thr) c.1592A>C (p.Lys531Thr) c.6806A>C (p.Lys2269Thr) | |
| 7 | g.92077838A>G | CA368133858 | AKAP9 | c.6908A>G (p.Lys2303Arg) c.6980A>G (p.Lys2327Arg) c.401A>G (p.Lys134Arg) c.1553A>G (p.Lys518Arg) c.*6637A>G (n.*6637A>G) c.6884A>G (p.Lys2295Arg) n.7106A>G c.6854A>G (p.Lys2285Arg) c.*6693A>G (n.*6693A>G) n.7130A>G c.6650A>G (p.Lys2217Arg) c.6731A>G (p.Lys2244Arg) c.6815A>G (p.Lys2272Arg) c.6767A>G (p.Lys2256Arg) c.6947A>G (p.Lys2316Arg) c.6941A>G (p.Lys2314Arg) c.446A>G (p.Lys149Arg) c.7055A>G (p.Lys2352Arg) c.7079A>G (p.Lys2360Arg) c.7019A>G (p.Lys2340Arg) c.7016A>G (p.Lys2339Arg) c.7001A>G (p.Lys2334Arg) c.7040A>G (p.Lys2347Arg) c.6959A>G (p.Lys2320Arg) c.6914A>G (p.Lys2305Arg) c.6944A>G (p.Lys2315Arg) c.6920A>G (p.Lys2307Arg) c.6803A>G (p.Lys2268Arg) c.1568A>G (p.Lys523Arg) c.1529A>G (p.Lys510Arg) c.7043A>G (p.Lys2348Arg) c.7004A>G (p.Lys2335Arg) c.6989A>G (p.Lys2330Arg) c.6950A>G (p.Lys2317Arg) c.6902A>G (p.Lys2301Arg) c.6671A>G (p.Lys2224Arg) c.2708A>G (p.Lys903Arg) c.1592A>G (p.Lys531Arg) c.6806A>G (p.Lys2269Arg) | |
| 7 | g.92077838A>T | CA368133859 | AKAP9 | c.6908A>T (p.Lys2303Ile) c.6980A>T (p.Lys2327Ile) c.401A>T (p.Lys134Ile) c.1553A>T (p.Lys518Ile) c.*6637A>T (n.*6637A>T) c.6884A>T (p.Lys2295Ile) n.7106A>T c.6854A>T (p.Lys2285Ile) c.*6693A>T (n.*6693A>T) n.7130A>T c.6650A>T (p.Lys2217Ile) c.6731A>T (p.Lys2244Ile) c.6815A>T (p.Lys2272Ile) c.6767A>T (p.Lys2256Ile) c.6947A>T (p.Lys2316Ile) c.6941A>T (p.Lys2314Ile) c.446A>T (p.Lys149Ile) c.7055A>T (p.Lys2352Ile) c.7079A>T (p.Lys2360Ile) c.7019A>T (p.Lys2340Ile) c.7016A>T (p.Lys2339Ile) c.7001A>T (p.Lys2334Ile) c.7040A>T (p.Lys2347Ile) c.6959A>T (p.Lys2320Ile) c.6914A>T (p.Lys2305Ile) c.6944A>T (p.Lys2315Ile) c.6920A>T (p.Lys2307Ile) c.6803A>T (p.Lys2268Ile) c.1568A>T (p.Lys523Ile) c.1529A>T (p.Lys510Ile) c.7043A>T (p.Lys2348Ile) c.7004A>T (p.Lys2335Ile) c.6989A>T (p.Lys2330Ile) c.6950A>T (p.Lys2317Ile) c.6902A>T (p.Lys2301Ile) c.6671A>T (p.Lys2224Ile) c.2708A>T (p.Lys903Ile) c.1592A>T (p.Lys531Ile) c.6806A>T (p.Lys2269Ile) | |
| 7 | g.92077839A= | CA1725747800 | AKAP9 | c.6909A= (p.Lys2303=) c.6981A= (p.Lys2327=) c.402A= (p.Lys134=) c.1554A= (p.Lys518=) c.*6638A= (n.*6638A=) c.6885A= (p.Lys2295=) n.7107A= c.6855A= (p.Lys2285=) c.*6694A= (n.*6694A=) n.7131A= c.6651A= (p.Lys2217=) c.6732A= (p.Lys2244=) c.6816A= (p.Lys2272=) c.6768A= (p.Lys2256=) c.6948A= (p.Lys2316=) c.6942A= (p.Lys2314=) c.447A= (p.Lys149=) c.7056A= (p.Lys2352=) c.7080A= (p.Lys2360=) c.7020A= (p.Lys2340=) c.7017A= (p.Lys2339=) c.7002A= (p.Lys2334=) c.7041A= (p.Lys2347=) c.6960A= (p.Lys2320=) c.6915A= (p.Lys2305=) c.6945A= (p.Lys2315=) c.6921A= (p.Lys2307=) c.6804A= (p.Lys2268=) c.1569A= (p.Lys523=) c.1530A= (p.Lys510=) c.7044A= (p.Lys2348=) c.7005A= (p.Lys2335=) c.6990A= (p.Lys2330=) c.6951A= (p.Lys2317=) c.6903A= (p.Lys2301=) c.6672A= (p.Lys2224=) c.2709A= (p.Lys903=) c.1593A= (p.Lys531=) c.6807A= (p.Lys2269=) | |
| 7 | g.92077839A>C | CA4337193 | AKAP9 | c.6909A>C (p.Lys2303Asn) c.6981A>C (p.Lys2327Asn) c.402A>C (p.Lys134Asn) c.1554A>C (p.Lys518Asn) c.*6638A>C (n.*6638A>C) c.6885A>C (p.Lys2295Asn) n.7107A>C c.6855A>C (p.Lys2285Asn) c.*6694A>C (n.*6694A>C) n.7131A>C c.6651A>C (p.Lys2217Asn) c.6732A>C (p.Lys2244Asn) c.6816A>C (p.Lys2272Asn) c.6768A>C (p.Lys2256Asn) c.6948A>C (p.Lys2316Asn) c.6942A>C (p.Lys2314Asn) c.447A>C (p.Lys149Asn) c.7056A>C (p.Lys2352Asn) c.7080A>C (p.Lys2360Asn) c.7020A>C (p.Lys2340Asn) c.7017A>C (p.Lys2339Asn) c.7002A>C (p.Lys2334Asn) c.7041A>C (p.Lys2347Asn) c.6960A>C (p.Lys2320Asn) c.6915A>C (p.Lys2305Asn) c.6945A>C (p.Lys2315Asn) c.6921A>C (p.Lys2307Asn) c.6804A>C (p.Lys2268Asn) c.1569A>C (p.Lys523Asn) c.1530A>C (p.Lys510Asn) c.7044A>C (p.Lys2348Asn) c.7005A>C (p.Lys2335Asn) c.6990A>C (p.Lys2330Asn) c.6951A>C (p.Lys2317Asn) c.6903A>C (p.Lys2301Asn) c.6672A>C (p.Lys2224Asn) c.2709A>C (p.Lys903Asn) c.1593A>C (p.Lys531Asn) c.6807A>C (p.Lys2269Asn) | dbSNP ExAC gnomAD v3 gnomAD v4 |