WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.92077726A>C | CA368133598 | AKAP9 | c.6796A>C (p.Lys2266Gln) c.6868A>C (p.Lys2290Gln) c.289A>C (p.Lys97Gln) c.1441A>C (p.Lys481Gln) c.*6525A>C (n.*6525A>C) c.6772A>C (p.Lys2258Gln) n.6994A>C c.6742A>C (p.Lys2248Gln) c.*6581A>C (n.*6581A>C) n.7018A>C c.6538A>C (p.Lys2180Gln) c.6619A>C (p.Lys2207Gln) c.6703A>C (p.Lys2235Gln) c.6655A>C (p.Lys2219Gln) c.6835A>C (p.Lys2279Gln) c.6829A>C (p.Lys2277Gln) c.334A>C (p.Lys112Gln) c.6943A>C (p.Lys2315Gln) c.6967A>C (p.Lys2323Gln) c.6907A>C (p.Lys2303Gln) c.6904A>C (p.Lys2302Gln) c.6889A>C (p.Lys2297Gln) c.6928A>C (p.Lys2310Gln) c.6847A>C (p.Lys2283Gln) c.6802A>C (p.Lys2268Gln) c.6832A>C (p.Lys2278Gln) c.6808A>C (p.Lys2270Gln) c.6691A>C (p.Lys2231Gln) c.1456A>C (p.Lys486Gln) c.1417A>C (p.Lys473Gln) c.6931A>C (p.Lys2311Gln) c.6892A>C (p.Lys2298Gln) c.6877A>C (p.Lys2293Gln) c.6838A>C (p.Lys2280Gln) c.6790A>C (p.Lys2264Gln) c.6559A>C (p.Lys2187Gln) c.2596A>C (p.Lys866Gln) c.1480A>C (p.Lys494Gln) c.6694A>C (p.Lys2232Gln) | |
| 7 | g.92077726A>G | CA368133599 | AKAP9 | c.6796A>G (p.Lys2266Glu) c.6868A>G (p.Lys2290Glu) c.289A>G (p.Lys97Glu) c.1441A>G (p.Lys481Glu) c.*6525A>G (n.*6525A>G) c.6772A>G (p.Lys2258Glu) n.6994A>G c.6742A>G (p.Lys2248Glu) c.*6581A>G (n.*6581A>G) n.7018A>G c.6538A>G (p.Lys2180Glu) c.6619A>G (p.Lys2207Glu) c.6703A>G (p.Lys2235Glu) c.6655A>G (p.Lys2219Glu) c.6835A>G (p.Lys2279Glu) c.6829A>G (p.Lys2277Glu) c.334A>G (p.Lys112Glu) c.6943A>G (p.Lys2315Glu) c.6967A>G (p.Lys2323Glu) c.6907A>G (p.Lys2303Glu) c.6904A>G (p.Lys2302Glu) c.6889A>G (p.Lys2297Glu) c.6928A>G (p.Lys2310Glu) c.6847A>G (p.Lys2283Glu) c.6802A>G (p.Lys2268Glu) c.6832A>G (p.Lys2278Glu) c.6808A>G (p.Lys2270Glu) c.6691A>G (p.Lys2231Glu) c.1456A>G (p.Lys486Glu) c.1417A>G (p.Lys473Glu) c.6931A>G (p.Lys2311Glu) c.6892A>G (p.Lys2298Glu) c.6877A>G (p.Lys2293Glu) c.6838A>G (p.Lys2280Glu) c.6790A>G (p.Lys2264Glu) c.6559A>G (p.Lys2187Glu) c.2596A>G (p.Lys866Glu) c.1480A>G (p.Lys494Glu) c.6694A>G (p.Lys2232Glu) | |
| 7 | g.92077726A>T | CA368133600 | AKAP9 | c.6796A>T (p.Lys2266Ter) c.6868A>T (p.Lys2290Ter) c.289A>T (p.Lys97Ter) c.1441A>T (p.Lys481Ter) c.*6525A>T (n.*6525A>T) c.6772A>T (p.Lys2258Ter) n.6994A>T c.6742A>T (p.Lys2248Ter) c.*6581A>T (n.*6581A>T) n.7018A>T c.6538A>T (p.Lys2180Ter) c.6619A>T (p.Lys2207Ter) c.6703A>T (p.Lys2235Ter) c.6655A>T (p.Lys2219Ter) c.6835A>T (p.Lys2279Ter) c.6829A>T (p.Lys2277Ter) c.334A>T (p.Lys112Ter) c.6943A>T (p.Lys2315Ter) c.6967A>T (p.Lys2323Ter) c.6907A>T (p.Lys2303Ter) c.6904A>T (p.Lys2302Ter) c.6889A>T (p.Lys2297Ter) c.6928A>T (p.Lys2310Ter) c.6847A>T (p.Lys2283Ter) c.6802A>T (p.Lys2268Ter) c.6832A>T (p.Lys2278Ter) c.6808A>T (p.Lys2270Ter) c.6691A>T (p.Lys2231Ter) c.1456A>T (p.Lys486Ter) c.1417A>T (p.Lys473Ter) c.6931A>T (p.Lys2311Ter) c.6892A>T (p.Lys2298Ter) c.6877A>T (p.Lys2293Ter) c.6838A>T (p.Lys2280Ter) c.6790A>T (p.Lys2264Ter) c.6559A>T (p.Lys2187Ter) c.2596A>T (p.Lys866Ter) c.1480A>T (p.Lys494Ter) c.6694A>T (p.Lys2232Ter) | |
| 7 | g.92077727A>C | CA368133603 | AKAP9 | c.6797A>C (p.Lys2266Thr) c.6869A>C (p.Lys2290Thr) c.290A>C (p.Lys97Thr) c.1442A>C (p.Lys481Thr) c.*6526A>C (n.*6526A>C) c.6773A>C (p.Lys2258Thr) n.6995A>C c.6743A>C (p.Lys2248Thr) c.*6582A>C (n.*6582A>C) n.7019A>C c.6539A>C (p.Lys2180Thr) c.6620A>C (p.Lys2207Thr) c.6704A>C (p.Lys2235Thr) c.6656A>C (p.Lys2219Thr) c.6836A>C (p.Lys2279Thr) c.6830A>C (p.Lys2277Thr) c.335A>C (p.Lys112Thr) c.6944A>C (p.Lys2315Thr) c.6968A>C (p.Lys2323Thr) c.6908A>C (p.Lys2303Thr) c.6905A>C (p.Lys2302Thr) c.6890A>C (p.Lys2297Thr) c.6929A>C (p.Lys2310Thr) c.6848A>C (p.Lys2283Thr) c.6803A>C (p.Lys2268Thr) c.6833A>C (p.Lys2278Thr) c.6809A>C (p.Lys2270Thr) c.6692A>C (p.Lys2231Thr) c.1457A>C (p.Lys486Thr) c.1418A>C (p.Lys473Thr) c.6932A>C (p.Lys2311Thr) c.6893A>C (p.Lys2298Thr) c.6878A>C (p.Lys2293Thr) c.6839A>C (p.Lys2280Thr) c.6791A>C (p.Lys2264Thr) c.6560A>C (p.Lys2187Thr) c.2597A>C (p.Lys866Thr) c.1481A>C (p.Lys494Thr) c.6695A>C (p.Lys2232Thr) | |
| 7 | g.92077727A>G | CA368133602 | AKAP9 | c.6797A>G (p.Lys2266Arg) c.6869A>G (p.Lys2290Arg) c.290A>G (p.Lys97Arg) c.1442A>G (p.Lys481Arg) c.*6526A>G (n.*6526A>G) c.6773A>G (p.Lys2258Arg) n.6995A>G c.6743A>G (p.Lys2248Arg) c.*6582A>G (n.*6582A>G) n.7019A>G c.6539A>G (p.Lys2180Arg) c.6620A>G (p.Lys2207Arg) c.6704A>G (p.Lys2235Arg) c.6656A>G (p.Lys2219Arg) c.6836A>G (p.Lys2279Arg) c.6830A>G (p.Lys2277Arg) c.335A>G (p.Lys112Arg) c.6944A>G (p.Lys2315Arg) c.6968A>G (p.Lys2323Arg) c.6908A>G (p.Lys2303Arg) c.6905A>G (p.Lys2302Arg) c.6890A>G (p.Lys2297Arg) c.6929A>G (p.Lys2310Arg) c.6848A>G (p.Lys2283Arg) c.6803A>G (p.Lys2268Arg) c.6833A>G (p.Lys2278Arg) c.6809A>G (p.Lys2270Arg) c.6692A>G (p.Lys2231Arg) c.1457A>G (p.Lys486Arg) c.1418A>G (p.Lys473Arg) c.6932A>G (p.Lys2311Arg) c.6893A>G (p.Lys2298Arg) c.6878A>G (p.Lys2293Arg) c.6839A>G (p.Lys2280Arg) c.6791A>G (p.Lys2264Arg) c.6560A>G (p.Lys2187Arg) c.2597A>G (p.Lys866Arg) c.1481A>G (p.Lys494Arg) c.6695A>G (p.Lys2232Arg) | ClinVar gnomAD v4 |
| 7 | g.92077727A>T | CA368133601 | AKAP9 | c.6797A>T (p.Lys2266Met) c.6869A>T (p.Lys2290Met) c.290A>T (p.Lys97Met) c.1442A>T (p.Lys481Met) c.*6526A>T (n.*6526A>T) c.6773A>T (p.Lys2258Met) n.6995A>T c.6743A>T (p.Lys2248Met) c.*6582A>T (n.*6582A>T) n.7019A>T c.6539A>T (p.Lys2180Met) c.6620A>T (p.Lys2207Met) c.6704A>T (p.Lys2235Met) c.6656A>T (p.Lys2219Met) c.6836A>T (p.Lys2279Met) c.6830A>T (p.Lys2277Met) c.335A>T (p.Lys112Met) c.6944A>T (p.Lys2315Met) c.6968A>T (p.Lys2323Met) c.6908A>T (p.Lys2303Met) c.6905A>T (p.Lys2302Met) c.6890A>T (p.Lys2297Met) c.6929A>T (p.Lys2310Met) c.6848A>T (p.Lys2283Met) c.6803A>T (p.Lys2268Met) c.6833A>T (p.Lys2278Met) c.6809A>T (p.Lys2270Met) c.6692A>T (p.Lys2231Met) c.1457A>T (p.Lys486Met) c.1418A>T (p.Lys473Met) c.6932A>T (p.Lys2311Met) c.6893A>T (p.Lys2298Met) c.6878A>T (p.Lys2293Met) c.6839A>T (p.Lys2280Met) c.6791A>T (p.Lys2264Met) c.6560A>T (p.Lys2187Met) c.2597A>T (p.Lys866Met) c.1481A>T (p.Lys494Met) c.6695A>T (p.Lys2232Met) | |
| 7 | g.92077728G>A | CA456450383 | AKAP9 | c.6798G>A (p.Lys2266=) c.6870G>A (p.Lys2290=) c.291G>A (p.Lys97=) c.1443G>A (p.Lys481=) c.*6527G>A (n.*6527G>A) c.6774G>A (p.Lys2258=) n.6996G>A c.6744G>A (p.Lys2248=) c.*6583G>A (n.*6583G>A) n.7020G>A c.6540G>A (p.Lys2180=) c.6621G>A (p.Lys2207=) c.6705G>A (p.Lys2235=) c.6657G>A (p.Lys2219=) c.6837G>A (p.Lys2279=) c.6831G>A (p.Lys2277=) c.336G>A (p.Lys112=) c.6945G>A (p.Lys2315=) c.6969G>A (p.Lys2323=) c.6909G>A (p.Lys2303=) c.6906G>A (p.Lys2302=) c.6891G>A (p.Lys2297=) c.6930G>A (p.Lys2310=) c.6849G>A (p.Lys2283=) c.6804G>A (p.Lys2268=) c.6834G>A (p.Lys2278=) c.6810G>A (p.Lys2270=) c.6693G>A (p.Lys2231=) c.1458G>A (p.Lys486=) c.1419G>A (p.Lys473=) c.6933G>A (p.Lys2311=) c.6894G>A (p.Lys2298=) c.6879G>A (p.Lys2293=) c.6840G>A (p.Lys2280=) c.6792G>A (p.Lys2264=) c.6561G>A (p.Lys2187=) c.2598G>A (p.Lys866=) c.1482G>A (p.Lys494=) c.6696G>A (p.Lys2232=) | |
| 7 | g.92077728G>C | CA368133604 | AKAP9 | c.6798G>C (p.Lys2266Asn) c.6870G>C (p.Lys2290Asn) c.291G>C (p.Lys97Asn) c.1443G>C (p.Lys481Asn) c.*6527G>C (n.*6527G>C) c.6774G>C (p.Lys2258Asn) n.6996G>C c.6744G>C (p.Lys2248Asn) c.*6583G>C (n.*6583G>C) n.7020G>C c.6540G>C (p.Lys2180Asn) c.6621G>C (p.Lys2207Asn) c.6705G>C (p.Lys2235Asn) c.6657G>C (p.Lys2219Asn) c.6837G>C (p.Lys2279Asn) c.6831G>C (p.Lys2277Asn) c.336G>C (p.Lys112Asn) c.6945G>C (p.Lys2315Asn) c.6969G>C (p.Lys2323Asn) c.6909G>C (p.Lys2303Asn) c.6906G>C (p.Lys2302Asn) c.6891G>C (p.Lys2297Asn) c.6930G>C (p.Lys2310Asn) c.6849G>C (p.Lys2283Asn) c.6804G>C (p.Lys2268Asn) c.6834G>C (p.Lys2278Asn) c.6810G>C (p.Lys2270Asn) c.6693G>C (p.Lys2231Asn) c.1458G>C (p.Lys486Asn) c.1419G>C (p.Lys473Asn) c.6933G>C (p.Lys2311Asn) c.6894G>C (p.Lys2298Asn) c.6879G>C (p.Lys2293Asn) c.6840G>C (p.Lys2280Asn) c.6792G>C (p.Lys2264Asn) c.6561G>C (p.Lys2187Asn) c.2598G>C (p.Lys866Asn) c.1482G>C (p.Lys494Asn) c.6696G>C (p.Lys2232Asn) | gnomAD v4 |
| 7 | g.92077728G>T | CA368133605 | AKAP9 | c.6798G>T (p.Lys2266Asn) c.6870G>T (p.Lys2290Asn) c.291G>T (p.Lys97Asn) c.1443G>T (p.Lys481Asn) c.*6527G>T (n.*6527G>T) c.6774G>T (p.Lys2258Asn) n.6996G>T c.6744G>T (p.Lys2248Asn) c.*6583G>T (n.*6583G>T) n.7020G>T c.6540G>T (p.Lys2180Asn) c.6621G>T (p.Lys2207Asn) c.6705G>T (p.Lys2235Asn) c.6657G>T (p.Lys2219Asn) c.6837G>T (p.Lys2279Asn) c.6831G>T (p.Lys2277Asn) c.336G>T (p.Lys112Asn) c.6945G>T (p.Lys2315Asn) c.6969G>T (p.Lys2323Asn) c.6909G>T (p.Lys2303Asn) c.6906G>T (p.Lys2302Asn) c.6891G>T (p.Lys2297Asn) c.6930G>T (p.Lys2310Asn) c.6849G>T (p.Lys2283Asn) c.6804G>T (p.Lys2268Asn) c.6834G>T (p.Lys2278Asn) c.6810G>T (p.Lys2270Asn) c.6693G>T (p.Lys2231Asn) c.1458G>T (p.Lys486Asn) c.1419G>T (p.Lys473Asn) c.6933G>T (p.Lys2311Asn) c.6894G>T (p.Lys2298Asn) c.6879G>T (p.Lys2293Asn) c.6840G>T (p.Lys2280Asn) c.6792G>T (p.Lys2264Asn) c.6561G>T (p.Lys2187Asn) c.2598G>T (p.Lys866Asn) c.1482G>T (p.Lys494Asn) c.6696G>T (p.Lys2232Asn) | |
| 7 | g.92077729G>A | CA368133606 | AKAP9 | c.6799G>A (p.Glu2267Lys) c.6871G>A (p.Glu2291Lys) c.292G>A (p.Glu98Lys) c.1444G>A (p.Glu482Lys) c.*6528G>A (n.*6528G>A) c.6775G>A (p.Glu2259Lys) n.6997G>A c.6745G>A (p.Glu2249Lys) c.*6584G>A (n.*6584G>A) n.7021G>A c.6541G>A (p.Glu2181Lys) c.6622G>A (p.Glu2208Lys) c.6706G>A (p.Glu2236Lys) c.6658G>A (p.Glu2220Lys) c.6838G>A (p.Glu2280Lys) c.6832G>A (p.Glu2278Lys) c.337G>A (p.Glu113Lys) c.6946G>A (p.Glu2316Lys) c.6970G>A (p.Glu2324Lys) c.6910G>A (p.Glu2304Lys) c.6907G>A (p.Glu2303Lys) c.6892G>A (p.Glu2298Lys) c.6931G>A (p.Glu2311Lys) c.6850G>A (p.Glu2284Lys) c.6805G>A (p.Glu2269Lys) c.6835G>A (p.Glu2279Lys) c.6811G>A (p.Glu2271Lys) c.6694G>A (p.Glu2232Lys) c.1459G>A (p.Glu487Lys) c.1420G>A (p.Glu474Lys) c.6934G>A (p.Glu2312Lys) c.6895G>A (p.Glu2299Lys) c.6880G>A (p.Glu2294Lys) c.6841G>A (p.Glu2281Lys) c.6793G>A (p.Glu2265Lys) c.6562G>A (p.Glu2188Lys) c.2599G>A (p.Glu867Lys) c.1483G>A (p.Glu495Lys) c.6697G>A (p.Glu2233Lys) | |
| 7 | g.92077729G>C | CA368133607 | AKAP9 | c.6799G>C (p.Glu2267Gln) c.6871G>C (p.Glu2291Gln) c.292G>C (p.Glu98Gln) c.1444G>C (p.Glu482Gln) c.*6528G>C (n.*6528G>C) c.6775G>C (p.Glu2259Gln) n.6997G>C c.6745G>C (p.Glu2249Gln) c.*6584G>C (n.*6584G>C) n.7021G>C c.6541G>C (p.Glu2181Gln) c.6622G>C (p.Glu2208Gln) c.6706G>C (p.Glu2236Gln) c.6658G>C (p.Glu2220Gln) c.6838G>C (p.Glu2280Gln) c.6832G>C (p.Glu2278Gln) c.337G>C (p.Glu113Gln) c.6946G>C (p.Glu2316Gln) c.6970G>C (p.Glu2324Gln) c.6910G>C (p.Glu2304Gln) c.6907G>C (p.Glu2303Gln) c.6892G>C (p.Glu2298Gln) c.6931G>C (p.Glu2311Gln) c.6850G>C (p.Glu2284Gln) c.6805G>C (p.Glu2269Gln) c.6835G>C (p.Glu2279Gln) c.6811G>C (p.Glu2271Gln) c.6694G>C (p.Glu2232Gln) c.1459G>C (p.Glu487Gln) c.1420G>C (p.Glu474Gln) c.6934G>C (p.Glu2312Gln) c.6895G>C (p.Glu2299Gln) c.6880G>C (p.Glu2294Gln) c.6841G>C (p.Glu2281Gln) c.6793G>C (p.Glu2265Gln) c.6562G>C (p.Glu2188Gln) c.2599G>C (p.Glu867Gln) c.1483G>C (p.Glu495Gln) c.6697G>C (p.Glu2233Gln) | |
| 7 | g.92077729G>T | CA368133608 | AKAP9 | c.6799G>T (p.Glu2267Ter) c.6871G>T (p.Glu2291Ter) c.292G>T (p.Glu98Ter) c.1444G>T (p.Glu482Ter) c.*6528G>T (n.*6528G>T) c.6775G>T (p.Glu2259Ter) n.6997G>T c.6745G>T (p.Glu2249Ter) c.*6584G>T (n.*6584G>T) n.7021G>T c.6541G>T (p.Glu2181Ter) c.6622G>T (p.Glu2208Ter) c.6706G>T (p.Glu2236Ter) c.6658G>T (p.Glu2220Ter) c.6838G>T (p.Glu2280Ter) c.6832G>T (p.Glu2278Ter) c.337G>T (p.Glu113Ter) c.6946G>T (p.Glu2316Ter) c.6970G>T (p.Glu2324Ter) c.6910G>T (p.Glu2304Ter) c.6907G>T (p.Glu2303Ter) c.6892G>T (p.Glu2298Ter) c.6931G>T (p.Glu2311Ter) c.6850G>T (p.Glu2284Ter) c.6805G>T (p.Glu2269Ter) c.6835G>T (p.Glu2279Ter) c.6811G>T (p.Glu2271Ter) c.6694G>T (p.Glu2232Ter) c.1459G>T (p.Glu487Ter) c.1420G>T (p.Glu474Ter) c.6934G>T (p.Glu2312Ter) c.6895G>T (p.Glu2299Ter) c.6880G>T (p.Glu2294Ter) c.6841G>T (p.Glu2281Ter) c.6793G>T (p.Glu2265Ter) c.6562G>T (p.Glu2188Ter) c.2599G>T (p.Glu867Ter) c.1483G>T (p.Glu495Ter) c.6697G>T (p.Glu2233Ter) | |
| 7 | g.92077730A>C | CA368133609 | AKAP9 | c.6800A>C (p.Glu2267Ala) c.6872A>C (p.Glu2291Ala) c.293A>C (p.Glu98Ala) c.1445A>C (p.Glu482Ala) c.*6529A>C (n.*6529A>C) c.6776A>C (p.Glu2259Ala) n.6998A>C c.6746A>C (p.Glu2249Ala) c.*6585A>C (n.*6585A>C) n.7022A>C c.6542A>C (p.Glu2181Ala) c.6623A>C (p.Glu2208Ala) c.6707A>C (p.Glu2236Ala) c.6659A>C (p.Glu2220Ala) c.6839A>C (p.Glu2280Ala) c.6833A>C (p.Glu2278Ala) c.338A>C (p.Glu113Ala) c.6947A>C (p.Glu2316Ala) c.6971A>C (p.Glu2324Ala) c.6911A>C (p.Glu2304Ala) c.6908A>C (p.Glu2303Ala) c.6893A>C (p.Glu2298Ala) c.6932A>C (p.Glu2311Ala) c.6851A>C (p.Glu2284Ala) c.6806A>C (p.Glu2269Ala) c.6836A>C (p.Glu2279Ala) c.6812A>C (p.Glu2271Ala) c.6695A>C (p.Glu2232Ala) c.1460A>C (p.Glu487Ala) c.1421A>C (p.Glu474Ala) c.6935A>C (p.Glu2312Ala) c.6896A>C (p.Glu2299Ala) c.6881A>C (p.Glu2294Ala) c.6842A>C (p.Glu2281Ala) c.6794A>C (p.Glu2265Ala) c.6563A>C (p.Glu2188Ala) c.2600A>C (p.Glu867Ala) c.1484A>C (p.Glu495Ala) c.6698A>C (p.Glu2233Ala) | |
| 7 | g.92077730A>G | CA368133610 | AKAP9 | c.6800A>G (p.Glu2267Gly) c.6872A>G (p.Glu2291Gly) c.293A>G (p.Glu98Gly) c.1445A>G (p.Glu482Gly) c.*6529A>G (n.*6529A>G) c.6776A>G (p.Glu2259Gly) n.6998A>G c.6746A>G (p.Glu2249Gly) c.*6585A>G (n.*6585A>G) n.7022A>G c.6542A>G (p.Glu2181Gly) c.6623A>G (p.Glu2208Gly) c.6707A>G (p.Glu2236Gly) c.6659A>G (p.Glu2220Gly) c.6839A>G (p.Glu2280Gly) c.6833A>G (p.Glu2278Gly) c.338A>G (p.Glu113Gly) c.6947A>G (p.Glu2316Gly) c.6971A>G (p.Glu2324Gly) c.6911A>G (p.Glu2304Gly) c.6908A>G (p.Glu2303Gly) c.6893A>G (p.Glu2298Gly) c.6932A>G (p.Glu2311Gly) c.6851A>G (p.Glu2284Gly) c.6806A>G (p.Glu2269Gly) c.6836A>G (p.Glu2279Gly) c.6812A>G (p.Glu2271Gly) c.6695A>G (p.Glu2232Gly) c.1460A>G (p.Glu487Gly) c.1421A>G (p.Glu474Gly) c.6935A>G (p.Glu2312Gly) c.6896A>G (p.Glu2299Gly) c.6881A>G (p.Glu2294Gly) c.6842A>G (p.Glu2281Gly) c.6794A>G (p.Glu2265Gly) c.6563A>G (p.Glu2188Gly) c.2600A>G (p.Glu867Gly) c.1484A>G (p.Glu495Gly) c.6698A>G (p.Glu2233Gly) | |
| 7 | g.92077730A>T | CA368133611 | AKAP9 | c.6800A>T (p.Glu2267Val) c.6872A>T (p.Glu2291Val) c.293A>T (p.Glu98Val) c.1445A>T (p.Glu482Val) c.*6529A>T (n.*6529A>T) c.6776A>T (p.Glu2259Val) n.6998A>T c.6746A>T (p.Glu2249Val) c.*6585A>T (n.*6585A>T) n.7022A>T c.6542A>T (p.Glu2181Val) c.6623A>T (p.Glu2208Val) c.6707A>T (p.Glu2236Val) c.6659A>T (p.Glu2220Val) c.6839A>T (p.Glu2280Val) c.6833A>T (p.Glu2278Val) c.338A>T (p.Glu113Val) c.6947A>T (p.Glu2316Val) c.6971A>T (p.Glu2324Val) c.6911A>T (p.Glu2304Val) c.6908A>T (p.Glu2303Val) c.6893A>T (p.Glu2298Val) c.6932A>T (p.Glu2311Val) c.6851A>T (p.Glu2284Val) c.6806A>T (p.Glu2269Val) c.6836A>T (p.Glu2279Val) c.6812A>T (p.Glu2271Val) c.6695A>T (p.Glu2232Val) c.1460A>T (p.Glu487Val) c.1421A>T (p.Glu474Val) c.6935A>T (p.Glu2312Val) c.6896A>T (p.Glu2299Val) c.6881A>T (p.Glu2294Val) c.6842A>T (p.Glu2281Val) c.6794A>T (p.Glu2265Val) c.6563A>T (p.Glu2188Val) c.2600A>T (p.Glu867Val) c.1484A>T (p.Glu495Val) c.6698A>T (p.Glu2233Val) | gnomAD v4 |
| 7 | g.92077731A= | CA1725747722 | AKAP9 | c.6801A= (p.Glu2267=) c.6873A= (p.Glu2291=) c.294A= (p.Glu98=) c.1446A= (p.Glu482=) c.*6530A= (n.*6530A=) c.6777A= (p.Glu2259=) n.6999A= c.6747A= (p.Glu2249=) c.*6586A= (n.*6586A=) n.7023A= c.6543A= (p.Glu2181=) c.6624A= (p.Glu2208=) c.6708A= (p.Glu2236=) c.6660A= (p.Glu2220=) c.6840A= (p.Glu2280=) c.6834A= (p.Glu2278=) c.339A= (p.Glu113=) c.6948A= (p.Glu2316=) c.6972A= (p.Glu2324=) c.6912A= (p.Glu2304=) c.6909A= (p.Glu2303=) c.6894A= (p.Glu2298=) c.6933A= (p.Glu2311=) c.6852A= (p.Glu2284=) c.6807A= (p.Glu2269=) c.6837A= (p.Glu2279=) c.6813A= (p.Glu2271=) c.6696A= (p.Glu2232=) c.1461A= (p.Glu487=) c.1422A= (p.Glu474=) c.6936A= (p.Glu2312=) c.6897A= (p.Glu2299=) c.6882A= (p.Glu2294=) c.6843A= (p.Glu2281=) c.6795A= (p.Glu2265=) c.6564A= (p.Glu2188=) c.2601A= (p.Glu867=) c.1485A= (p.Glu495=) c.6699A= (p.Glu2233=) | |
| 7 | g.92077731A>C | CA368133612 | AKAP9 | c.6801A>C (p.Glu2267Asp) c.6873A>C (p.Glu2291Asp) c.294A>C (p.Glu98Asp) c.1446A>C (p.Glu482Asp) c.*6530A>C (n.*6530A>C) c.6777A>C (p.Glu2259Asp) n.6999A>C c.6747A>C (p.Glu2249Asp) c.*6586A>C (n.*6586A>C) n.7023A>C c.6543A>C (p.Glu2181Asp) c.6624A>C (p.Glu2208Asp) c.6708A>C (p.Glu2236Asp) c.6660A>C (p.Glu2220Asp) c.6840A>C (p.Glu2280Asp) c.6834A>C (p.Glu2278Asp) c.339A>C (p.Glu113Asp) c.6948A>C (p.Glu2316Asp) c.6972A>C (p.Glu2324Asp) c.6912A>C (p.Glu2304Asp) c.6909A>C (p.Glu2303Asp) c.6894A>C (p.Glu2298Asp) c.6933A>C (p.Glu2311Asp) c.6852A>C (p.Glu2284Asp) c.6807A>C (p.Glu2269Asp) c.6837A>C (p.Glu2279Asp) c.6813A>C (p.Glu2271Asp) c.6696A>C (p.Glu2232Asp) c.1461A>C (p.Glu487Asp) c.1422A>C (p.Glu474Asp) c.6936A>C (p.Glu2312Asp) c.6897A>C (p.Glu2299Asp) c.6882A>C (p.Glu2294Asp) c.6843A>C (p.Glu2281Asp) c.6795A>C (p.Glu2265Asp) c.6564A>C (p.Glu2188Asp) c.2601A>C (p.Glu867Asp) c.1485A>C (p.Glu495Asp) c.6699A>C (p.Glu2233Asp) | |
| 7 | g.92077731A>G | CA4337177 | AKAP9 | c.6801A>G (p.Glu2267=) c.6873A>G (p.Glu2291=) c.294A>G (p.Glu98=) c.1446A>G (p.Glu482=) c.*6530A>G (n.*6530A>G) c.6777A>G (p.Glu2259=) n.6999A>G c.6747A>G (p.Glu2249=) c.*6586A>G (n.*6586A>G) n.7023A>G c.6543A>G (p.Glu2181=) c.6624A>G (p.Glu2208=) c.6708A>G (p.Glu2236=) c.6660A>G (p.Glu2220=) c.6840A>G (p.Glu2280=) c.6834A>G (p.Glu2278=) c.339A>G (p.Glu113=) c.6948A>G (p.Glu2316=) c.6972A>G (p.Glu2324=) c.6912A>G (p.Glu2304=) c.6909A>G (p.Glu2303=) c.6894A>G (p.Glu2298=) c.6933A>G (p.Glu2311=) c.6852A>G (p.Glu2284=) c.6807A>G (p.Glu2269=) c.6837A>G (p.Glu2279=) c.6813A>G (p.Glu2271=) c.6696A>G (p.Glu2232=) c.1461A>G (p.Glu487=) c.1422A>G (p.Glu474=) c.6936A>G (p.Glu2312=) c.6897A>G (p.Glu2299=) c.6882A>G (p.Glu2294=) c.6843A>G (p.Glu2281=) c.6795A>G (p.Glu2265=) c.6564A>G (p.Glu2188=) c.2601A>G (p.Glu867=) c.1485A>G (p.Glu495=) c.6699A>G (p.Glu2233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.92077731A>T | CA368133613 | AKAP9 | c.6801A>T (p.Glu2267Asp) c.6873A>T (p.Glu2291Asp) c.294A>T (p.Glu98Asp) c.1446A>T (p.Glu482Asp) c.*6530A>T (n.*6530A>T) c.6777A>T (p.Glu2259Asp) n.6999A>T c.6747A>T (p.Glu2249Asp) c.*6586A>T (n.*6586A>T) n.7023A>T c.6543A>T (p.Glu2181Asp) c.6624A>T (p.Glu2208Asp) c.6708A>T (p.Glu2236Asp) c.6660A>T (p.Glu2220Asp) c.6840A>T (p.Glu2280Asp) c.6834A>T (p.Glu2278Asp) c.339A>T (p.Glu113Asp) c.6948A>T (p.Glu2316Asp) c.6972A>T (p.Glu2324Asp) c.6912A>T (p.Glu2304Asp) c.6909A>T (p.Glu2303Asp) c.6894A>T (p.Glu2298Asp) c.6933A>T (p.Glu2311Asp) c.6852A>T (p.Glu2284Asp) c.6807A>T (p.Glu2269Asp) c.6837A>T (p.Glu2279Asp) c.6813A>T (p.Glu2271Asp) c.6696A>T (p.Glu2232Asp) c.1461A>T (p.Glu487Asp) c.1422A>T (p.Glu474Asp) c.6936A>T (p.Glu2312Asp) c.6897A>T (p.Glu2299Asp) c.6882A>T (p.Glu2294Asp) c.6843A>T (p.Glu2281Asp) c.6795A>T (p.Glu2265Asp) c.6564A>T (p.Glu2188Asp) c.2601A>T (p.Glu867Asp) c.1485A>T (p.Glu495Asp) c.6699A>T (p.Glu2233Asp) | |
| 7 | g.92077732T>A | CA368133614 | AKAP9 | c.6802T>A (p.Ser2268Thr) c.6874T>A (p.Ser2292Thr) c.295T>A (p.Ser99Thr) c.1447T>A (p.Ser483Thr) c.*6531T>A (n.*6531T>A) c.6778T>A (p.Ser2260Thr) n.7000T>A c.6748T>A (p.Ser2250Thr) c.*6587T>A (n.*6587T>A) n.7024T>A c.6544T>A (p.Ser2182Thr) c.6625T>A (p.Ser2209Thr) c.6709T>A (p.Ser2237Thr) c.6661T>A (p.Ser2221Thr) c.6841T>A (p.Ser2281Thr) c.6835T>A (p.Ser2279Thr) c.340T>A (p.Ser114Thr) c.6949T>A (p.Ser2317Thr) c.6973T>A (p.Ser2325Thr) c.6913T>A (p.Ser2305Thr) c.6910T>A (p.Ser2304Thr) c.6895T>A (p.Ser2299Thr) c.6934T>A (p.Ser2312Thr) c.6853T>A (p.Ser2285Thr) c.6808T>A (p.Ser2270Thr) c.6838T>A (p.Ser2280Thr) c.6814T>A (p.Ser2272Thr) c.6697T>A (p.Ser2233Thr) c.1462T>A (p.Ser488Thr) c.1423T>A (p.Ser475Thr) c.6937T>A (p.Ser2313Thr) c.6898T>A (p.Ser2300Thr) c.6883T>A (p.Ser2295Thr) c.6844T>A (p.Ser2282Thr) c.6796T>A (p.Ser2266Thr) c.6565T>A (p.Ser2189Thr) c.2602T>A (p.Ser868Thr) c.1486T>A (p.Ser496Thr) c.6700T>A (p.Ser2234Thr) | |
| 7 | g.92077732T>C | CA368133615 | AKAP9 | c.6802T>C (p.Ser2268Pro) c.6874T>C (p.Ser2292Pro) c.295T>C (p.Ser99Pro) c.1447T>C (p.Ser483Pro) c.*6531T>C (n.*6531T>C) c.6778T>C (p.Ser2260Pro) n.7000T>C c.6748T>C (p.Ser2250Pro) c.*6587T>C (n.*6587T>C) n.7024T>C c.6544T>C (p.Ser2182Pro) c.6625T>C (p.Ser2209Pro) c.6709T>C (p.Ser2237Pro) c.6661T>C (p.Ser2221Pro) c.6841T>C (p.Ser2281Pro) c.6835T>C (p.Ser2279Pro) c.340T>C (p.Ser114Pro) c.6949T>C (p.Ser2317Pro) c.6973T>C (p.Ser2325Pro) c.6913T>C (p.Ser2305Pro) c.6910T>C (p.Ser2304Pro) c.6895T>C (p.Ser2299Pro) c.6934T>C (p.Ser2312Pro) c.6853T>C (p.Ser2285Pro) c.6808T>C (p.Ser2270Pro) c.6838T>C (p.Ser2280Pro) c.6814T>C (p.Ser2272Pro) c.6697T>C (p.Ser2233Pro) c.1462T>C (p.Ser488Pro) c.1423T>C (p.Ser475Pro) c.6937T>C (p.Ser2313Pro) c.6898T>C (p.Ser2300Pro) c.6883T>C (p.Ser2295Pro) c.6844T>C (p.Ser2282Pro) c.6796T>C (p.Ser2266Pro) c.6565T>C (p.Ser2189Pro) c.2602T>C (p.Ser868Pro) c.1486T>C (p.Ser496Pro) c.6700T>C (p.Ser2234Pro) | |
| 7 | g.92077732T>G | CA368133616 | AKAP9 | c.6802T>G (p.Ser2268Ala) c.6874T>G (p.Ser2292Ala) c.295T>G (p.Ser99Ala) c.1447T>G (p.Ser483Ala) c.*6531T>G (n.*6531T>G) c.6778T>G (p.Ser2260Ala) n.7000T>G c.6748T>G (p.Ser2250Ala) c.*6587T>G (n.*6587T>G) n.7024T>G c.6544T>G (p.Ser2182Ala) c.6625T>G (p.Ser2209Ala) c.6709T>G (p.Ser2237Ala) c.6661T>G (p.Ser2221Ala) c.6841T>G (p.Ser2281Ala) c.6835T>G (p.Ser2279Ala) c.340T>G (p.Ser114Ala) c.6949T>G (p.Ser2317Ala) c.6973T>G (p.Ser2325Ala) c.6913T>G (p.Ser2305Ala) c.6910T>G (p.Ser2304Ala) c.6895T>G (p.Ser2299Ala) c.6934T>G (p.Ser2312Ala) c.6853T>G (p.Ser2285Ala) c.6808T>G (p.Ser2270Ala) c.6838T>G (p.Ser2280Ala) c.6814T>G (p.Ser2272Ala) c.6697T>G (p.Ser2233Ala) c.1462T>G (p.Ser488Ala) c.1423T>G (p.Ser475Ala) c.6937T>G (p.Ser2313Ala) c.6898T>G (p.Ser2300Ala) c.6883T>G (p.Ser2295Ala) c.6844T>G (p.Ser2282Ala) c.6796T>G (p.Ser2266Ala) c.6565T>G (p.Ser2189Ala) c.2602T>G (p.Ser868Ala) c.1486T>G (p.Ser496Ala) c.6700T>G (p.Ser2234Ala) | |
| 7 | g.92077733C>A | CA368133618 | AKAP9 | c.6803C>A (p.Ser2268Tyr) c.6875C>A (p.Ser2292Tyr) c.296C>A (p.Ser99Tyr) c.1448C>A (p.Ser483Tyr) c.*6532C>A (n.*6532C>A) c.6779C>A (p.Ser2260Tyr) n.7001C>A c.6749C>A (p.Ser2250Tyr) c.*6588C>A (n.*6588C>A) n.7025C>A c.6545C>A (p.Ser2182Tyr) c.6626C>A (p.Ser2209Tyr) c.6710C>A (p.Ser2237Tyr) c.6662C>A (p.Ser2221Tyr) c.6842C>A (p.Ser2281Tyr) c.6836C>A (p.Ser2279Tyr) c.341C>A (p.Ser114Tyr) c.6950C>A (p.Ser2317Tyr) c.6974C>A (p.Ser2325Tyr) c.6914C>A (p.Ser2305Tyr) c.6911C>A (p.Ser2304Tyr) c.6896C>A (p.Ser2299Tyr) c.6935C>A (p.Ser2312Tyr) c.6854C>A (p.Ser2285Tyr) c.6809C>A (p.Ser2270Tyr) c.6839C>A (p.Ser2280Tyr) c.6815C>A (p.Ser2272Tyr) c.6698C>A (p.Ser2233Tyr) c.1463C>A (p.Ser488Tyr) c.1424C>A (p.Ser475Tyr) c.6938C>A (p.Ser2313Tyr) c.6899C>A (p.Ser2300Tyr) c.6884C>A (p.Ser2295Tyr) c.6845C>A (p.Ser2282Tyr) c.6797C>A (p.Ser2266Tyr) c.6566C>A (p.Ser2189Tyr) c.2603C>A (p.Ser868Tyr) c.1487C>A (p.Ser496Tyr) c.6701C>A (p.Ser2234Tyr) | |
| 7 | g.92077733C>G | CA368133619 | AKAP9 | c.6803C>G (p.Ser2268Cys) c.6875C>G (p.Ser2292Cys) c.296C>G (p.Ser99Cys) c.1448C>G (p.Ser483Cys) c.*6532C>G (n.*6532C>G) c.6779C>G (p.Ser2260Cys) n.7001C>G c.6749C>G (p.Ser2250Cys) c.*6588C>G (n.*6588C>G) n.7025C>G c.6545C>G (p.Ser2182Cys) c.6626C>G (p.Ser2209Cys) c.6710C>G (p.Ser2237Cys) c.6662C>G (p.Ser2221Cys) c.6842C>G (p.Ser2281Cys) c.6836C>G (p.Ser2279Cys) c.341C>G (p.Ser114Cys) c.6950C>G (p.Ser2317Cys) c.6974C>G (p.Ser2325Cys) c.6914C>G (p.Ser2305Cys) c.6911C>G (p.Ser2304Cys) c.6896C>G (p.Ser2299Cys) c.6935C>G (p.Ser2312Cys) c.6854C>G (p.Ser2285Cys) c.6809C>G (p.Ser2270Cys) c.6839C>G (p.Ser2280Cys) c.6815C>G (p.Ser2272Cys) c.6698C>G (p.Ser2233Cys) c.1463C>G (p.Ser488Cys) c.1424C>G (p.Ser475Cys) c.6938C>G (p.Ser2313Cys) c.6899C>G (p.Ser2300Cys) c.6884C>G (p.Ser2295Cys) c.6845C>G (p.Ser2282Cys) c.6797C>G (p.Ser2266Cys) c.6566C>G (p.Ser2189Cys) c.2603C>G (p.Ser868Cys) c.1487C>G (p.Ser496Cys) c.6701C>G (p.Ser2234Cys) | |
| 7 | g.92077733C>T | CA368133617 | AKAP9 | c.6803C>T (p.Ser2268Phe) c.6875C>T (p.Ser2292Phe) c.296C>T (p.Ser99Phe) c.1448C>T (p.Ser483Phe) c.*6532C>T (n.*6532C>T) c.6779C>T (p.Ser2260Phe) n.7001C>T c.6749C>T (p.Ser2250Phe) c.*6588C>T (n.*6588C>T) n.7025C>T c.6545C>T (p.Ser2182Phe) c.6626C>T (p.Ser2209Phe) c.6710C>T (p.Ser2237Phe) c.6662C>T (p.Ser2221Phe) c.6842C>T (p.Ser2281Phe) c.6836C>T (p.Ser2279Phe) c.341C>T (p.Ser114Phe) c.6950C>T (p.Ser2317Phe) c.6974C>T (p.Ser2325Phe) c.6914C>T (p.Ser2305Phe) c.6911C>T (p.Ser2304Phe) c.6896C>T (p.Ser2299Phe) c.6935C>T (p.Ser2312Phe) c.6854C>T (p.Ser2285Phe) c.6809C>T (p.Ser2270Phe) c.6839C>T (p.Ser2280Phe) c.6815C>T (p.Ser2272Phe) c.6698C>T (p.Ser2233Phe) c.1463C>T (p.Ser488Phe) c.1424C>T (p.Ser475Phe) c.6938C>T (p.Ser2313Phe) c.6899C>T (p.Ser2300Phe) c.6884C>T (p.Ser2295Phe) c.6845C>T (p.Ser2282Phe) c.6797C>T (p.Ser2266Phe) c.6566C>T (p.Ser2189Phe) c.2603C>T (p.Ser868Phe) c.1487C>T (p.Ser496Phe) c.6701C>T (p.Ser2234Phe) | |
| 7 | g.92077734T>A | CA456450386 | AKAP9 | c.6804T>A (p.Ser2268=) c.6876T>A (p.Ser2292=) c.297T>A (p.Ser99=) c.1449T>A (p.Ser483=) c.*6533T>A (n.*6533T>A) c.6780T>A (p.Ser2260=) n.7002T>A c.6750T>A (p.Ser2250=) c.*6589T>A (n.*6589T>A) n.7026T>A c.6546T>A (p.Ser2182=) c.6627T>A (p.Ser2209=) c.6711T>A (p.Ser2237=) c.6663T>A (p.Ser2221=) c.6843T>A (p.Ser2281=) c.6837T>A (p.Ser2279=) c.342T>A (p.Ser114=) c.6951T>A (p.Ser2317=) c.6975T>A (p.Ser2325=) c.6915T>A (p.Ser2305=) c.6912T>A (p.Ser2304=) c.6897T>A (p.Ser2299=) c.6936T>A (p.Ser2312=) c.6855T>A (p.Ser2285=) c.6810T>A (p.Ser2270=) c.6840T>A (p.Ser2280=) c.6816T>A (p.Ser2272=) c.6699T>A (p.Ser2233=) c.1464T>A (p.Ser488=) c.1425T>A (p.Ser475=) c.6939T>A (p.Ser2313=) c.6900T>A (p.Ser2300=) c.6885T>A (p.Ser2295=) c.6846T>A (p.Ser2282=) c.6798T>A (p.Ser2266=) c.6567T>A (p.Ser2189=) c.2604T>A (p.Ser868=) c.1488T>A (p.Ser496=) c.6702T>A (p.Ser2234=) | |
| 7 | g.92077734T>C | CA456450385 | AKAP9 | c.6804T>C (p.Ser2268=) c.6876T>C (p.Ser2292=) c.297T>C (p.Ser99=) c.1449T>C (p.Ser483=) c.*6533T>C (n.*6533T>C) c.6780T>C (p.Ser2260=) n.7002T>C c.6750T>C (p.Ser2250=) c.*6589T>C (n.*6589T>C) n.7026T>C c.6546T>C (p.Ser2182=) c.6627T>C (p.Ser2209=) c.6711T>C (p.Ser2237=) c.6663T>C (p.Ser2221=) c.6843T>C (p.Ser2281=) c.6837T>C (p.Ser2279=) c.342T>C (p.Ser114=) c.6951T>C (p.Ser2317=) c.6975T>C (p.Ser2325=) c.6915T>C (p.Ser2305=) c.6912T>C (p.Ser2304=) c.6897T>C (p.Ser2299=) c.6936T>C (p.Ser2312=) c.6855T>C (p.Ser2285=) c.6810T>C (p.Ser2270=) c.6840T>C (p.Ser2280=) c.6816T>C (p.Ser2272=) c.6699T>C (p.Ser2233=) c.1464T>C (p.Ser488=) c.1425T>C (p.Ser475=) c.6939T>C (p.Ser2313=) c.6900T>C (p.Ser2300=) c.6885T>C (p.Ser2295=) c.6846T>C (p.Ser2282=) c.6798T>C (p.Ser2266=) c.6567T>C (p.Ser2189=) c.2604T>C (p.Ser868=) c.1488T>C (p.Ser496=) c.6702T>C (p.Ser2234=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.92077734T>G | CA456450384 | AKAP9 | c.6804T>G (p.Ser2268=) c.6876T>G (p.Ser2292=) c.297T>G (p.Ser99=) c.1449T>G (p.Ser483=) c.*6533T>G (n.*6533T>G) c.6780T>G (p.Ser2260=) n.7002T>G c.6750T>G (p.Ser2250=) c.*6589T>G (n.*6589T>G) n.7026T>G c.6546T>G (p.Ser2182=) c.6627T>G (p.Ser2209=) c.6711T>G (p.Ser2237=) c.6663T>G (p.Ser2221=) c.6843T>G (p.Ser2281=) c.6837T>G (p.Ser2279=) c.342T>G (p.Ser114=) c.6951T>G (p.Ser2317=) c.6975T>G (p.Ser2325=) c.6915T>G (p.Ser2305=) c.6912T>G (p.Ser2304=) c.6897T>G (p.Ser2299=) c.6936T>G (p.Ser2312=) c.6855T>G (p.Ser2285=) c.6810T>G (p.Ser2270=) c.6840T>G (p.Ser2280=) c.6816T>G (p.Ser2272=) c.6699T>G (p.Ser2233=) c.1464T>G (p.Ser488=) c.1425T>G (p.Ser475=) c.6939T>G (p.Ser2313=) c.6900T>G (p.Ser2300=) c.6885T>G (p.Ser2295=) c.6846T>G (p.Ser2282=) c.6798T>G (p.Ser2266=) c.6567T>G (p.Ser2189=) c.2604T>G (p.Ser868=) c.1488T>G (p.Ser496=) c.6702T>G (p.Ser2234=) | |
| 7 | g.92077734T= | CA1725747723 | AKAP9 | c.6804T= (p.Ser2268=) c.6876T= (p.Ser2292=) c.297T= (p.Ser99=) c.1449T= (p.Ser483=) c.*6533T= (n.*6533T=) c.6780T= (p.Ser2260=) n.7002T= c.6750T= (p.Ser2250=) c.*6589T= (n.*6589T=) n.7026T= c.6546T= (p.Ser2182=) c.6627T= (p.Ser2209=) c.6711T= (p.Ser2237=) c.6663T= (p.Ser2221=) c.6843T= (p.Ser2281=) c.6837T= (p.Ser2279=) c.342T= (p.Ser114=) c.6951T= (p.Ser2317=) c.6975T= (p.Ser2325=) c.6915T= (p.Ser2305=) c.6912T= (p.Ser2304=) c.6897T= (p.Ser2299=) c.6936T= (p.Ser2312=) c.6855T= (p.Ser2285=) c.6810T= (p.Ser2270=) c.6840T= (p.Ser2280=) c.6816T= (p.Ser2272=) c.6699T= (p.Ser2233=) c.1464T= (p.Ser488=) c.1425T= (p.Ser475=) c.6939T= (p.Ser2313=) c.6900T= (p.Ser2300=) c.6885T= (p.Ser2295=) c.6846T= (p.Ser2282=) c.6798T= (p.Ser2266=) c.6567T= (p.Ser2189=) c.2604T= (p.Ser868=) c.1488T= (p.Ser496=) c.6702T= (p.Ser2234=) | |
| 7 | g.92077735G>A | CA368133620 | AKAP9 | c.6805G>A (p.Asp2269Asn) c.6877G>A (p.Asp2293Asn) c.298G>A (p.Asp100Asn) c.1450G>A (p.Asp484Asn) c.*6534G>A (n.*6534G>A) c.6781G>A (p.Asp2261Asn) n.7003G>A c.6751G>A (p.Asp2251Asn) c.*6590G>A (n.*6590G>A) n.7027G>A c.6547G>A (p.Asp2183Asn) c.6628G>A (p.Asp2210Asn) c.6712G>A (p.Asp2238Asn) c.6664G>A (p.Asp2222Asn) c.6844G>A (p.Asp2282Asn) c.6838G>A (p.Asp2280Asn) c.343G>A (p.Asp115Asn) c.6952G>A (p.Asp2318Asn) c.6976G>A (p.Asp2326Asn) c.6916G>A (p.Asp2306Asn) c.6913G>A (p.Asp2305Asn) c.6898G>A (p.Asp2300Asn) c.6937G>A (p.Asp2313Asn) c.6856G>A (p.Asp2286Asn) c.6811G>A (p.Asp2271Asn) c.6841G>A (p.Asp2281Asn) c.6817G>A (p.Asp2273Asn) c.6700G>A (p.Asp2234Asn) c.1465G>A (p.Asp489Asn) c.1426G>A (p.Asp476Asn) c.6940G>A (p.Asp2314Asn) c.6901G>A (p.Asp2301Asn) c.6886G>A (p.Asp2296Asn) c.6847G>A (p.Asp2283Asn) c.6799G>A (p.Asp2267Asn) c.6568G>A (p.Asp2190Asn) c.2605G>A (p.Asp869Asn) c.1489G>A (p.Asp497Asn) c.6703G>A (p.Asp2235Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.92077735G>C | CA368133621 | AKAP9 | c.6805G>C (p.Asp2269His) c.6877G>C (p.Asp2293His) c.298G>C (p.Asp100His) c.1450G>C (p.Asp484His) c.*6534G>C (n.*6534G>C) c.6781G>C (p.Asp2261His) n.7003G>C c.6751G>C (p.Asp2251His) c.*6590G>C (n.*6590G>C) n.7027G>C c.6547G>C (p.Asp2183His) c.6628G>C (p.Asp2210His) c.6712G>C (p.Asp2238His) c.6664G>C (p.Asp2222His) c.6844G>C (p.Asp2282His) c.6838G>C (p.Asp2280His) c.343G>C (p.Asp115His) c.6952G>C (p.Asp2318His) c.6976G>C (p.Asp2326His) c.6916G>C (p.Asp2306His) c.6913G>C (p.Asp2305His) c.6898G>C (p.Asp2300His) c.6937G>C (p.Asp2313His) c.6856G>C (p.Asp2286His) c.6811G>C (p.Asp2271His) c.6841G>C (p.Asp2281His) c.6817G>C (p.Asp2273His) c.6700G>C (p.Asp2234His) c.1465G>C (p.Asp489His) c.1426G>C (p.Asp476His) c.6940G>C (p.Asp2314His) c.6901G>C (p.Asp2301His) c.6886G>C (p.Asp2296His) c.6847G>C (p.Asp2283His) c.6799G>C (p.Asp2267His) c.6568G>C (p.Asp2190His) c.2605G>C (p.Asp869His) c.1489G>C (p.Asp497His) c.6703G>C (p.Asp2235His) | |
| 7 | g.92077735G= | CA1725747725 | AKAP9 | c.6805G= (p.Asp2269=) c.6877G= (p.Asp2293=) c.298G= (p.Asp100=) c.1450G= (p.Asp484=) c.*6534G= (n.*6534G=) c.6781G= (p.Asp2261=) n.7003G= c.6751G= (p.Asp2251=) c.*6590G= (n.*6590G=) n.7027G= c.6547G= (p.Asp2183=) c.6628G= (p.Asp2210=) c.6712G= (p.Asp2238=) c.6664G= (p.Asp2222=) c.6844G= (p.Asp2282=) c.6838G= (p.Asp2280=) c.343G= (p.Asp115=) c.6952G= (p.Asp2318=) c.6976G= (p.Asp2326=) c.6916G= (p.Asp2306=) c.6913G= (p.Asp2305=) c.6898G= (p.Asp2300=) c.6937G= (p.Asp2313=) c.6856G= (p.Asp2286=) c.6811G= (p.Asp2271=) c.6841G= (p.Asp2281=) c.6817G= (p.Asp2273=) c.6700G= (p.Asp2234=) c.1465G= (p.Asp489=) c.1426G= (p.Asp476=) c.6940G= (p.Asp2314=) c.6901G= (p.Asp2301=) c.6886G= (p.Asp2296=) c.6847G= (p.Asp2283=) c.6799G= (p.Asp2267=) c.6568G= (p.Asp2190=) c.2605G= (p.Asp869=) c.1489G= (p.Asp497=) c.6703G= (p.Asp2235=) | |
| 7 | g.92077735G>T | CA368133622 | AKAP9 | c.6805G>T (p.Asp2269Tyr) c.6877G>T (p.Asp2293Tyr) c.298G>T (p.Asp100Tyr) c.1450G>T (p.Asp484Tyr) c.*6534G>T (n.*6534G>T) c.6781G>T (p.Asp2261Tyr) n.7003G>T c.6751G>T (p.Asp2251Tyr) c.*6590G>T (n.*6590G>T) n.7027G>T c.6547G>T (p.Asp2183Tyr) c.6628G>T (p.Asp2210Tyr) c.6712G>T (p.Asp2238Tyr) c.6664G>T (p.Asp2222Tyr) c.6844G>T (p.Asp2282Tyr) c.6838G>T (p.Asp2280Tyr) c.343G>T (p.Asp115Tyr) c.6952G>T (p.Asp2318Tyr) c.6976G>T (p.Asp2326Tyr) c.6916G>T (p.Asp2306Tyr) c.6913G>T (p.Asp2305Tyr) c.6898G>T (p.Asp2300Tyr) c.6937G>T (p.Asp2313Tyr) c.6856G>T (p.Asp2286Tyr) c.6811G>T (p.Asp2271Tyr) c.6841G>T (p.Asp2281Tyr) c.6817G>T (p.Asp2273Tyr) c.6700G>T (p.Asp2234Tyr) c.1465G>T (p.Asp489Tyr) c.1426G>T (p.Asp476Tyr) c.6940G>T (p.Asp2314Tyr) c.6901G>T (p.Asp2301Tyr) c.6886G>T (p.Asp2296Tyr) c.6847G>T (p.Asp2283Tyr) c.6799G>T (p.Asp2267Tyr) c.6568G>T (p.Asp2190Tyr) c.2605G>T (p.Asp869Tyr) c.1489G>T (p.Asp497Tyr) c.6703G>T (p.Asp2235Tyr) | dbSNP |
| 7 | g.92077736A= | CA1725747729 | AKAP9 | c.6806A= (p.Asp2269=) c.6878A= (p.Asp2293=) c.299A= (p.Asp100=) c.1451A= (p.Asp484=) c.*6535A= (n.*6535A=) c.6782A= (p.Asp2261=) n.7004A= c.6752A= (p.Asp2251=) c.*6591A= (n.*6591A=) n.7028A= c.6548A= (p.Asp2183=) c.6629A= (p.Asp2210=) c.6713A= (p.Asp2238=) c.6665A= (p.Asp2222=) c.6845A= (p.Asp2282=) c.6839A= (p.Asp2280=) c.344A= (p.Asp115=) c.6953A= (p.Asp2318=) c.6977A= (p.Asp2326=) c.6917A= (p.Asp2306=) c.6914A= (p.Asp2305=) c.6899A= (p.Asp2300=) c.6938A= (p.Asp2313=) c.6857A= (p.Asp2286=) c.6812A= (p.Asp2271=) c.6842A= (p.Asp2281=) c.6818A= (p.Asp2273=) c.6701A= (p.Asp2234=) c.1466A= (p.Asp489=) c.1427A= (p.Asp476=) c.6941A= (p.Asp2314=) c.6902A= (p.Asp2301=) c.6887A= (p.Asp2296=) c.6848A= (p.Asp2283=) c.6800A= (p.Asp2267=) c.6569A= (p.Asp2190=) c.2606A= (p.Asp869=) c.1490A= (p.Asp497=) c.6704A= (p.Asp2235=) | |
| 7 | g.92077736A>C | CA368133623 | AKAP9 | c.6806A>C (p.Asp2269Ala) c.6878A>C (p.Asp2293Ala) c.299A>C (p.Asp100Ala) c.1451A>C (p.Asp484Ala) c.*6535A>C (n.*6535A>C) c.6782A>C (p.Asp2261Ala) n.7004A>C c.6752A>C (p.Asp2251Ala) c.*6591A>C (n.*6591A>C) n.7028A>C c.6548A>C (p.Asp2183Ala) c.6629A>C (p.Asp2210Ala) c.6713A>C (p.Asp2238Ala) c.6665A>C (p.Asp2222Ala) c.6845A>C (p.Asp2282Ala) c.6839A>C (p.Asp2280Ala) c.344A>C (p.Asp115Ala) c.6953A>C (p.Asp2318Ala) c.6977A>C (p.Asp2326Ala) c.6917A>C (p.Asp2306Ala) c.6914A>C (p.Asp2305Ala) c.6899A>C (p.Asp2300Ala) c.6938A>C (p.Asp2313Ala) c.6857A>C (p.Asp2286Ala) c.6812A>C (p.Asp2271Ala) c.6842A>C (p.Asp2281Ala) c.6818A>C (p.Asp2273Ala) c.6701A>C (p.Asp2234Ala) c.1466A>C (p.Asp489Ala) c.1427A>C (p.Asp476Ala) c.6941A>C (p.Asp2314Ala) c.6902A>C (p.Asp2301Ala) c.6887A>C (p.Asp2296Ala) c.6848A>C (p.Asp2283Ala) c.6800A>C (p.Asp2267Ala) c.6569A>C (p.Asp2190Ala) c.2606A>C (p.Asp869Ala) c.1490A>C (p.Asp497Ala) c.6704A>C (p.Asp2235Ala) | |
| 7 | g.92077736A>G | CA368133624 | AKAP9 | c.6806A>G (p.Asp2269Gly) c.6878A>G (p.Asp2293Gly) c.299A>G (p.Asp100Gly) c.1451A>G (p.Asp484Gly) c.*6535A>G (n.*6535A>G) c.6782A>G (p.Asp2261Gly) n.7004A>G c.6752A>G (p.Asp2251Gly) c.*6591A>G (n.*6591A>G) n.7028A>G c.6548A>G (p.Asp2183Gly) c.6629A>G (p.Asp2210Gly) c.6713A>G (p.Asp2238Gly) c.6665A>G (p.Asp2222Gly) c.6845A>G (p.Asp2282Gly) c.6839A>G (p.Asp2280Gly) c.344A>G (p.Asp115Gly) c.6953A>G (p.Asp2318Gly) c.6977A>G (p.Asp2326Gly) c.6917A>G (p.Asp2306Gly) c.6914A>G (p.Asp2305Gly) c.6899A>G (p.Asp2300Gly) c.6938A>G (p.Asp2313Gly) c.6857A>G (p.Asp2286Gly) c.6812A>G (p.Asp2271Gly) c.6842A>G (p.Asp2281Gly) c.6818A>G (p.Asp2273Gly) c.6701A>G (p.Asp2234Gly) c.1466A>G (p.Asp489Gly) c.1427A>G (p.Asp476Gly) c.6941A>G (p.Asp2314Gly) c.6902A>G (p.Asp2301Gly) c.6887A>G (p.Asp2296Gly) c.6848A>G (p.Asp2283Gly) c.6800A>G (p.Asp2267Gly) c.6569A>G (p.Asp2190Gly) c.2606A>G (p.Asp869Gly) c.1490A>G (p.Asp497Gly) c.6704A>G (p.Asp2235Gly) | ClinVar dbSNP gnomAD v4 |
| 7 | g.92077736A>T | CA4337178 | AKAP9 | c.6806A>T (p.Asp2269Val) c.6878A>T (p.Asp2293Val) c.299A>T (p.Asp100Val) c.1451A>T (p.Asp484Val) c.*6535A>T (n.*6535A>T) c.6782A>T (p.Asp2261Val) n.7004A>T c.6752A>T (p.Asp2251Val) c.*6591A>T (n.*6591A>T) n.7028A>T c.6548A>T (p.Asp2183Val) c.6629A>T (p.Asp2210Val) c.6713A>T (p.Asp2238Val) c.6665A>T (p.Asp2222Val) c.6845A>T (p.Asp2282Val) c.6839A>T (p.Asp2280Val) c.344A>T (p.Asp115Val) c.6953A>T (p.Asp2318Val) c.6977A>T (p.Asp2326Val) c.6917A>T (p.Asp2306Val) c.6914A>T (p.Asp2305Val) c.6899A>T (p.Asp2300Val) c.6938A>T (p.Asp2313Val) c.6857A>T (p.Asp2286Val) c.6812A>T (p.Asp2271Val) c.6842A>T (p.Asp2281Val) c.6818A>T (p.Asp2273Val) c.6701A>T (p.Asp2234Val) c.1466A>T (p.Asp489Val) c.1427A>T (p.Asp476Val) c.6941A>T (p.Asp2314Val) c.6902A>T (p.Asp2301Val) c.6887A>T (p.Asp2296Val) c.6848A>T (p.Asp2283Val) c.6800A>T (p.Asp2267Val) c.6569A>T (p.Asp2190Val) c.2606A>T (p.Asp869Val) c.1490A>T (p.Asp497Val) c.6704A>T (p.Asp2235Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.92077737T>A | CA368133625 | AKAP9 | c.6807T>A (p.Asp2269Glu) c.6879T>A (p.Asp2293Glu) c.300T>A (p.Asp100Glu) c.1452T>A (p.Asp484Glu) c.*6536T>A (n.*6536T>A) c.6783T>A (p.Asp2261Glu) n.7005T>A c.6753T>A (p.Asp2251Glu) c.*6592T>A (n.*6592T>A) n.7029T>A c.6549T>A (p.Asp2183Glu) c.6630T>A (p.Asp2210Glu) c.6714T>A (p.Asp2238Glu) c.6666T>A (p.Asp2222Glu) c.6846T>A (p.Asp2282Glu) c.6840T>A (p.Asp2280Glu) c.345T>A (p.Asp115Glu) c.6954T>A (p.Asp2318Glu) c.6978T>A (p.Asp2326Glu) c.6918T>A (p.Asp2306Glu) c.6915T>A (p.Asp2305Glu) c.6900T>A (p.Asp2300Glu) c.6939T>A (p.Asp2313Glu) c.6858T>A (p.Asp2286Glu) c.6813T>A (p.Asp2271Glu) c.6843T>A (p.Asp2281Glu) c.6819T>A (p.Asp2273Glu) c.6702T>A (p.Asp2234Glu) c.1467T>A (p.Asp489Glu) c.1428T>A (p.Asp476Glu) c.6942T>A (p.Asp2314Glu) c.6903T>A (p.Asp2301Glu) c.6888T>A (p.Asp2296Glu) c.6849T>A (p.Asp2283Glu) c.6801T>A (p.Asp2267Glu) c.6570T>A (p.Asp2190Glu) c.2607T>A (p.Asp869Glu) c.1491T>A (p.Asp497Glu) c.6705T>A (p.Asp2235Glu) | |
| 7 | g.92077737T>C | CA456450388 | AKAP9 | c.6807T>C (p.Asp2269=) c.6879T>C (p.Asp2293=) c.300T>C (p.Asp100=) c.1452T>C (p.Asp484=) c.*6536T>C (n.*6536T>C) c.6783T>C (p.Asp2261=) n.7005T>C c.6753T>C (p.Asp2251=) c.*6592T>C (n.*6592T>C) n.7029T>C c.6549T>C (p.Asp2183=) c.6630T>C (p.Asp2210=) c.6714T>C (p.Asp2238=) c.6666T>C (p.Asp2222=) c.6846T>C (p.Asp2282=) c.6840T>C (p.Asp2280=) c.345T>C (p.Asp115=) c.6954T>C (p.Asp2318=) c.6978T>C (p.Asp2326=) c.6918T>C (p.Asp2306=) c.6915T>C (p.Asp2305=) c.6900T>C (p.Asp2300=) c.6939T>C (p.Asp2313=) c.6858T>C (p.Asp2286=) c.6813T>C (p.Asp2271=) c.6843T>C (p.Asp2281=) c.6819T>C (p.Asp2273=) c.6702T>C (p.Asp2234=) c.1467T>C (p.Asp489=) c.1428T>C (p.Asp476=) c.6942T>C (p.Asp2314=) c.6903T>C (p.Asp2301=) c.6888T>C (p.Asp2296=) c.6849T>C (p.Asp2283=) c.6801T>C (p.Asp2267=) c.6570T>C (p.Asp2190=) c.2607T>C (p.Asp869=) c.1491T>C (p.Asp497=) c.6705T>C (p.Asp2235=) | dbSNP |
| 7 | g.92077737T>G | CA368133626 | AKAP9 | c.6807T>G (p.Asp2269Glu) c.6879T>G (p.Asp2293Glu) c.300T>G (p.Asp100Glu) c.1452T>G (p.Asp484Glu) c.*6536T>G (n.*6536T>G) c.6783T>G (p.Asp2261Glu) n.7005T>G c.6753T>G (p.Asp2251Glu) c.*6592T>G (n.*6592T>G) n.7029T>G c.6549T>G (p.Asp2183Glu) c.6630T>G (p.Asp2210Glu) c.6714T>G (p.Asp2238Glu) c.6666T>G (p.Asp2222Glu) c.6846T>G (p.Asp2282Glu) c.6840T>G (p.Asp2280Glu) c.345T>G (p.Asp115Glu) c.6954T>G (p.Asp2318Glu) c.6978T>G (p.Asp2326Glu) c.6918T>G (p.Asp2306Glu) c.6915T>G (p.Asp2305Glu) c.6900T>G (p.Asp2300Glu) c.6939T>G (p.Asp2313Glu) c.6858T>G (p.Asp2286Glu) c.6813T>G (p.Asp2271Glu) c.6843T>G (p.Asp2281Glu) c.6819T>G (p.Asp2273Glu) c.6702T>G (p.Asp2234Glu) c.1467T>G (p.Asp489Glu) c.1428T>G (p.Asp476Glu) c.6942T>G (p.Asp2314Glu) c.6903T>G (p.Asp2301Glu) c.6888T>G (p.Asp2296Glu) c.6849T>G (p.Asp2283Glu) c.6801T>G (p.Asp2267Glu) c.6570T>G (p.Asp2190Glu) c.2607T>G (p.Asp869Glu) c.1491T>G (p.Asp497Glu) c.6705T>G (p.Asp2235Glu) | |
| 7 | g.92077737T= | CA1725747731 | AKAP9 | c.6807T= (p.Asp2269=) c.6879T= (p.Asp2293=) c.300T= (p.Asp100=) c.1452T= (p.Asp484=) c.*6536T= (n.*6536T=) c.6783T= (p.Asp2261=) n.7005T= c.6753T= (p.Asp2251=) c.*6592T= (n.*6592T=) n.7029T= c.6549T= (p.Asp2183=) c.6630T= (p.Asp2210=) c.6714T= (p.Asp2238=) c.6666T= (p.Asp2222=) c.6846T= (p.Asp2282=) c.6840T= (p.Asp2280=) c.345T= (p.Asp115=) c.6954T= (p.Asp2318=) c.6978T= (p.Asp2326=) c.6918T= (p.Asp2306=) c.6915T= (p.Asp2305=) c.6900T= (p.Asp2300=) c.6939T= (p.Asp2313=) c.6858T= (p.Asp2286=) c.6813T= (p.Asp2271=) c.6843T= (p.Asp2281=) c.6819T= (p.Asp2273=) c.6702T= (p.Asp2234=) c.1467T= (p.Asp489=) c.1428T= (p.Asp476=) c.6942T= (p.Asp2314=) c.6903T= (p.Asp2301=) c.6888T= (p.Asp2296=) c.6849T= (p.Asp2283=) c.6801T= (p.Asp2267=) c.6570T= (p.Asp2190=) c.2607T= (p.Asp869=) c.1491T= (p.Asp497=) c.6705T= (p.Asp2235=) | |
| 7 | g.92077738G>A | CA161884554 | AKAP9 | c.6808G>A (p.Ala2270Thr) c.6880G>A (p.Ala2294Thr) c.301G>A (p.Ala101Thr) c.1453G>A (p.Ala485Thr) c.*6537G>A (n.*6537G>A) c.6784G>A (p.Ala2262Thr) n.7006G>A c.6754G>A (p.Ala2252Thr) c.*6593G>A (n.*6593G>A) n.7030G>A c.6550G>A (p.Ala2184Thr) c.6631G>A (p.Ala2211Thr) c.6715G>A (p.Ala2239Thr) c.6667G>A (p.Ala2223Thr) c.6847G>A (p.Ala2283Thr) c.6841G>A (p.Ala2281Thr) c.346G>A (p.Ala116Thr) c.6955G>A (p.Ala2319Thr) c.6979G>A (p.Ala2327Thr) c.6919G>A (p.Ala2307Thr) c.6916G>A (p.Ala2306Thr) c.6901G>A (p.Ala2301Thr) c.6940G>A (p.Ala2314Thr) c.6859G>A (p.Ala2287Thr) c.6814G>A (p.Ala2272Thr) c.6844G>A (p.Ala2282Thr) c.6820G>A (p.Ala2274Thr) c.6703G>A (p.Ala2235Thr) c.1468G>A (p.Ala490Thr) c.1429G>A (p.Ala477Thr) c.6943G>A (p.Ala2315Thr) c.6904G>A (p.Ala2302Thr) c.6889G>A (p.Ala2297Thr) c.6850G>A (p.Ala2284Thr) c.6802G>A (p.Ala2268Thr) c.6571G>A (p.Ala2191Thr) c.2608G>A (p.Ala870Thr) c.1492G>A (p.Ala498Thr) c.6706G>A (p.Ala2236Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.92077738G>C | CA368133627 | AKAP9 | c.6808G>C (p.Ala2270Pro) c.6880G>C (p.Ala2294Pro) c.301G>C (p.Ala101Pro) c.1453G>C (p.Ala485Pro) c.*6537G>C (n.*6537G>C) c.6784G>C (p.Ala2262Pro) n.7006G>C c.6754G>C (p.Ala2252Pro) c.*6593G>C (n.*6593G>C) n.7030G>C c.6550G>C (p.Ala2184Pro) c.6631G>C (p.Ala2211Pro) c.6715G>C (p.Ala2239Pro) c.6667G>C (p.Ala2223Pro) c.6847G>C (p.Ala2283Pro) c.6841G>C (p.Ala2281Pro) c.346G>C (p.Ala116Pro) c.6955G>C (p.Ala2319Pro) c.6979G>C (p.Ala2327Pro) c.6919G>C (p.Ala2307Pro) c.6916G>C (p.Ala2306Pro) c.6901G>C (p.Ala2301Pro) c.6940G>C (p.Ala2314Pro) c.6859G>C (p.Ala2287Pro) c.6814G>C (p.Ala2272Pro) c.6844G>C (p.Ala2282Pro) c.6820G>C (p.Ala2274Pro) c.6703G>C (p.Ala2235Pro) c.1468G>C (p.Ala490Pro) c.1429G>C (p.Ala477Pro) c.6943G>C (p.Ala2315Pro) c.6904G>C (p.Ala2302Pro) c.6889G>C (p.Ala2297Pro) c.6850G>C (p.Ala2284Pro) c.6802G>C (p.Ala2268Pro) c.6571G>C (p.Ala2191Pro) c.2608G>C (p.Ala870Pro) c.1492G>C (p.Ala498Pro) c.6706G>C (p.Ala2236Pro) | |
| 7 | g.92077738G= | CA1725747734 | AKAP9 | c.6808G= (p.Ala2270=) c.6880G= (p.Ala2294=) c.301G= (p.Ala101=) c.1453G= (p.Ala485=) c.*6537G= (n.*6537G=) c.6784G= (p.Ala2262=) n.7006G= c.6754G= (p.Ala2252=) c.*6593G= (n.*6593G=) n.7030G= c.6550G= (p.Ala2184=) c.6631G= (p.Ala2211=) c.6715G= (p.Ala2239=) c.6667G= (p.Ala2223=) c.6847G= (p.Ala2283=) c.6841G= (p.Ala2281=) c.346G= (p.Ala116=) c.6955G= (p.Ala2319=) c.6979G= (p.Ala2327=) c.6919G= (p.Ala2307=) c.6916G= (p.Ala2306=) c.6901G= (p.Ala2301=) c.6940G= (p.Ala2314=) c.6859G= (p.Ala2287=) c.6814G= (p.Ala2272=) c.6844G= (p.Ala2282=) c.6820G= (p.Ala2274=) c.6703G= (p.Ala2235=) c.1468G= (p.Ala490=) c.1429G= (p.Ala477=) c.6943G= (p.Ala2315=) c.6904G= (p.Ala2302=) c.6889G= (p.Ala2297=) c.6850G= (p.Ala2284=) c.6802G= (p.Ala2268=) c.6571G= (p.Ala2191=) c.2608G= (p.Ala870=) c.1492G= (p.Ala498=) c.6706G= (p.Ala2236=) | |
| 7 | g.92077738G>T | CA368133628 | AKAP9 | c.6808G>T (p.Ala2270Ser) c.6880G>T (p.Ala2294Ser) c.301G>T (p.Ala101Ser) c.1453G>T (p.Ala485Ser) c.*6537G>T (n.*6537G>T) c.6784G>T (p.Ala2262Ser) n.7006G>T c.6754G>T (p.Ala2252Ser) c.*6593G>T (n.*6593G>T) n.7030G>T c.6550G>T (p.Ala2184Ser) c.6631G>T (p.Ala2211Ser) c.6715G>T (p.Ala2239Ser) c.6667G>T (p.Ala2223Ser) c.6847G>T (p.Ala2283Ser) c.6841G>T (p.Ala2281Ser) c.346G>T (p.Ala116Ser) c.6955G>T (p.Ala2319Ser) c.6979G>T (p.Ala2327Ser) c.6919G>T (p.Ala2307Ser) c.6916G>T (p.Ala2306Ser) c.6901G>T (p.Ala2301Ser) c.6940G>T (p.Ala2314Ser) c.6859G>T (p.Ala2287Ser) c.6814G>T (p.Ala2272Ser) c.6844G>T (p.Ala2282Ser) c.6820G>T (p.Ala2274Ser) c.6703G>T (p.Ala2235Ser) c.1468G>T (p.Ala490Ser) c.1429G>T (p.Ala477Ser) c.6943G>T (p.Ala2315Ser) c.6904G>T (p.Ala2302Ser) c.6889G>T (p.Ala2297Ser) c.6850G>T (p.Ala2284Ser) c.6802G>T (p.Ala2268Ser) c.6571G>T (p.Ala2191Ser) c.2608G>T (p.Ala870Ser) c.1492G>T (p.Ala498Ser) c.6706G>T (p.Ala2236Ser) | |
| 7 | g.92077739C>A | CA368133631 | AKAP9 | c.6809C>A (p.Ala2270Asp) c.6881C>A (p.Ala2294Asp) c.302C>A (p.Ala101Asp) c.1454C>A (p.Ala485Asp) c.*6538C>A (n.*6538C>A) c.6785C>A (p.Ala2262Asp) n.7007C>A c.6755C>A (p.Ala2252Asp) c.*6594C>A (n.*6594C>A) n.7031C>A c.6551C>A (p.Ala2184Asp) c.6632C>A (p.Ala2211Asp) c.6716C>A (p.Ala2239Asp) c.6668C>A (p.Ala2223Asp) c.6848C>A (p.Ala2283Asp) c.6842C>A (p.Ala2281Asp) c.347C>A (p.Ala116Asp) c.6956C>A (p.Ala2319Asp) c.6980C>A (p.Ala2327Asp) c.6920C>A (p.Ala2307Asp) c.6917C>A (p.Ala2306Asp) c.6902C>A (p.Ala2301Asp) c.6941C>A (p.Ala2314Asp) c.6860C>A (p.Ala2287Asp) c.6815C>A (p.Ala2272Asp) c.6845C>A (p.Ala2282Asp) c.6821C>A (p.Ala2274Asp) c.6704C>A (p.Ala2235Asp) c.1469C>A (p.Ala490Asp) c.1430C>A (p.Ala477Asp) c.6944C>A (p.Ala2315Asp) c.6905C>A (p.Ala2302Asp) c.6890C>A (p.Ala2297Asp) c.6851C>A (p.Ala2284Asp) c.6803C>A (p.Ala2268Asp) c.6572C>A (p.Ala2191Asp) c.2609C>A (p.Ala870Asp) c.1493C>A (p.Ala498Asp) c.6707C>A (p.Ala2236Asp) | |
| 7 | g.92077739C>G | CA368133630 | AKAP9 | c.6809C>G (p.Ala2270Gly) c.6881C>G (p.Ala2294Gly) c.302C>G (p.Ala101Gly) c.1454C>G (p.Ala485Gly) c.*6538C>G (n.*6538C>G) c.6785C>G (p.Ala2262Gly) n.7007C>G c.6755C>G (p.Ala2252Gly) c.*6594C>G (n.*6594C>G) n.7031C>G c.6551C>G (p.Ala2184Gly) c.6632C>G (p.Ala2211Gly) c.6716C>G (p.Ala2239Gly) c.6668C>G (p.Ala2223Gly) c.6848C>G (p.Ala2283Gly) c.6842C>G (p.Ala2281Gly) c.347C>G (p.Ala116Gly) c.6956C>G (p.Ala2319Gly) c.6980C>G (p.Ala2327Gly) c.6920C>G (p.Ala2307Gly) c.6917C>G (p.Ala2306Gly) c.6902C>G (p.Ala2301Gly) c.6941C>G (p.Ala2314Gly) c.6860C>G (p.Ala2287Gly) c.6815C>G (p.Ala2272Gly) c.6845C>G (p.Ala2282Gly) c.6821C>G (p.Ala2274Gly) c.6704C>G (p.Ala2235Gly) c.1469C>G (p.Ala490Gly) c.1430C>G (p.Ala477Gly) c.6944C>G (p.Ala2315Gly) c.6905C>G (p.Ala2302Gly) c.6890C>G (p.Ala2297Gly) c.6851C>G (p.Ala2284Gly) c.6803C>G (p.Ala2268Gly) c.6572C>G (p.Ala2191Gly) c.2609C>G (p.Ala870Gly) c.1493C>G (p.Ala498Gly) c.6707C>G (p.Ala2236Gly) | |
| 7 | g.92077739C>T | CA368133629 | AKAP9 | c.6809C>T (p.Ala2270Val) c.6881C>T (p.Ala2294Val) c.302C>T (p.Ala101Val) c.1454C>T (p.Ala485Val) c.*6538C>T (n.*6538C>T) c.6785C>T (p.Ala2262Val) n.7007C>T c.6755C>T (p.Ala2252Val) c.*6594C>T (n.*6594C>T) n.7031C>T c.6551C>T (p.Ala2184Val) c.6632C>T (p.Ala2211Val) c.6716C>T (p.Ala2239Val) c.6668C>T (p.Ala2223Val) c.6848C>T (p.Ala2283Val) c.6842C>T (p.Ala2281Val) c.347C>T (p.Ala116Val) c.6956C>T (p.Ala2319Val) c.6980C>T (p.Ala2327Val) c.6920C>T (p.Ala2307Val) c.6917C>T (p.Ala2306Val) c.6902C>T (p.Ala2301Val) c.6941C>T (p.Ala2314Val) c.6860C>T (p.Ala2287Val) c.6815C>T (p.Ala2272Val) c.6845C>T (p.Ala2282Val) c.6821C>T (p.Ala2274Val) c.6704C>T (p.Ala2235Val) c.1469C>T (p.Ala490Val) c.1430C>T (p.Ala477Val) c.6944C>T (p.Ala2315Val) c.6905C>T (p.Ala2302Val) c.6890C>T (p.Ala2297Val) c.6851C>T (p.Ala2284Val) c.6803C>T (p.Ala2268Val) c.6572C>T (p.Ala2191Val) c.2609C>T (p.Ala870Val) c.1493C>T (p.Ala498Val) c.6707C>T (p.Ala2236Val) | gnomAD v4 COSMIC COSMIC |
| 7 | g.92077740C>A | CA456450389 | AKAP9 | c.6810C>A (p.Ala2270=) c.6882C>A (p.Ala2294=) c.303C>A (p.Ala101=) c.1455C>A (p.Ala485=) c.*6539C>A (n.*6539C>A) c.6786C>A (p.Ala2262=) n.7008C>A c.6756C>A (p.Ala2252=) c.*6595C>A (n.*6595C>A) n.7032C>A c.6552C>A (p.Ala2184=) c.6633C>A (p.Ala2211=) c.6717C>A (p.Ala2239=) c.6669C>A (p.Ala2223=) c.6849C>A (p.Ala2283=) c.6843C>A (p.Ala2281=) c.348C>A (p.Ala116=) c.6957C>A (p.Ala2319=) c.6981C>A (p.Ala2327=) c.6921C>A (p.Ala2307=) c.6918C>A (p.Ala2306=) c.6903C>A (p.Ala2301=) c.6942C>A (p.Ala2314=) c.6861C>A (p.Ala2287=) c.6816C>A (p.Ala2272=) c.6846C>A (p.Ala2282=) c.6822C>A (p.Ala2274=) c.6705C>A (p.Ala2235=) c.1470C>A (p.Ala490=) c.1431C>A (p.Ala477=) c.6945C>A (p.Ala2315=) c.6906C>A (p.Ala2302=) c.6891C>A (p.Ala2297=) c.6852C>A (p.Ala2284=) c.6804C>A (p.Ala2268=) c.6573C>A (p.Ala2191=) c.2610C>A (p.Ala870=) c.1494C>A (p.Ala498=) c.6708C>A (p.Ala2236=) | |
| 7 | g.92077740C>G | CA456450391 | AKAP9 | c.6810C>G (p.Ala2270=) c.6882C>G (p.Ala2294=) c.303C>G (p.Ala101=) c.1455C>G (p.Ala485=) c.*6539C>G (n.*6539C>G) c.6786C>G (p.Ala2262=) n.7008C>G c.6756C>G (p.Ala2252=) c.*6595C>G (n.*6595C>G) n.7032C>G c.6552C>G (p.Ala2184=) c.6633C>G (p.Ala2211=) c.6717C>G (p.Ala2239=) c.6669C>G (p.Ala2223=) c.6849C>G (p.Ala2283=) c.6843C>G (p.Ala2281=) c.348C>G (p.Ala116=) c.6957C>G (p.Ala2319=) c.6981C>G (p.Ala2327=) c.6921C>G (p.Ala2307=) c.6918C>G (p.Ala2306=) c.6903C>G (p.Ala2301=) c.6942C>G (p.Ala2314=) c.6861C>G (p.Ala2287=) c.6816C>G (p.Ala2272=) c.6846C>G (p.Ala2282=) c.6822C>G (p.Ala2274=) c.6705C>G (p.Ala2235=) c.1470C>G (p.Ala490=) c.1431C>G (p.Ala477=) c.6945C>G (p.Ala2315=) c.6906C>G (p.Ala2302=) c.6891C>G (p.Ala2297=) c.6852C>G (p.Ala2284=) c.6804C>G (p.Ala2268=) c.6573C>G (p.Ala2191=) c.2610C>G (p.Ala870=) c.1494C>G (p.Ala498=) c.6708C>G (p.Ala2236=) |