Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33443017C>A | CA363625265 | SYNGAP1,SYNGAP1-AS1 | c.2207C>A (p.Thr736Lys) c.2465C>A (p.Thr822Lys) c.2423C>A (p.Thr808Lys) c.2288C>A (p.Thr763Lys) c.2420C>A (p.Thr807Lys) n.329+3589G>T | |
6 | g.33443017C= | CA1620014474 | SYNGAP1,SYNGAP1-AS1 | c.2207C= (p.Thr736=) c.2465C= (p.Thr822=) c.2423C= (p.Thr808=) c.2288C= (p.Thr763=) c.2420C= (p.Thr807=) n.329+3589G= | |
6 | g.33443017C>G | CA363625268 | SYNGAP1,SYNGAP1-AS1 | c.2207C>G (p.Thr736Arg) c.2465C>G (p.Thr822Arg) c.2423C>G (p.Thr808Arg) c.2288C>G (p.Thr763Arg) c.2420C>G (p.Thr807Arg) n.329+3589G>C | |
6 | g.33443017C>T | CA363625269 | SYNGAP1,SYNGAP1-AS1 | c.2207C>T (p.Thr736Met) c.2465C>T (p.Thr822Met) c.2423C>T (p.Thr808Met) c.2288C>T (p.Thr763Met) c.2420C>T (p.Thr807Met) n.329+3589G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443018G>A | CA3758913 | SYNGAP1,SYNGAP1-AS1 | c.2208G>A (p.Thr736=) c.2466G>A (p.Thr822=) c.2424G>A (p.Thr808=) c.2289G>A (p.Thr763=) c.2421G>A (p.Thr807=) n.329+3588C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443018G>C | CA450103533 | SYNGAP1,SYNGAP1-AS1 | c.2208G>C (p.Thr736=) c.2466G>C (p.Thr822=) c.2424G>C (p.Thr808=) c.2289G>C (p.Thr763=) c.2421G>C (p.Thr807=) n.329+3588C>G | gnomAD v4 |
6 | g.33443018G= | CA1620014475 | SYNGAP1,SYNGAP1-AS1 | c.2208G= (p.Thr736=) c.2466G= (p.Thr822=) c.2424G= (p.Thr808=) c.2289G= (p.Thr763=) c.2421G= (p.Thr807=) n.329+3588C= | |
6 | g.33443018G>T | CA450103534 | SYNGAP1,SYNGAP1-AS1 | c.2208G>T (p.Thr736=) c.2466G>T (p.Thr822=) c.2424G>T (p.Thr808=) c.2289G>T (p.Thr763=) c.2421G>T (p.Thr807=) n.329+3588C>A | |
6 | g.33443019A>C | CA363625283 | SYNGAP1,SYNGAP1-AS1 | c.2209A>C (p.Ser737Arg) c.2467A>C (p.Ser823Arg) c.2425A>C (p.Ser809Arg) c.2290A>C (p.Ser764Arg) c.2422A>C (p.Ser808Arg) n.329+3587T>G | |
6 | g.33443019A>G | CA363625280 | SYNGAP1,SYNGAP1-AS1 | c.2209A>G (p.Ser737Gly) c.2467A>G (p.Ser823Gly) c.2425A>G (p.Ser809Gly) c.2290A>G (p.Ser764Gly) c.2422A>G (p.Ser808Gly) n.329+3587T>C | |
6 | g.33443019A>T | CA363625279 | SYNGAP1,SYNGAP1-AS1 | c.2209A>T (p.Ser737Cys) c.2467A>T (p.Ser823Cys) c.2425A>T (p.Ser809Cys) c.2290A>T (p.Ser764Cys) c.2422A>T (p.Ser808Cys) n.329+3587T>A | |
6 | g.33443020G>A | CA363625287 | SYNGAP1,SYNGAP1-AS1 | c.2210G>A (p.Ser737Asn) c.2468G>A (p.Ser823Asn) c.2426G>A (p.Ser809Asn) c.2291G>A (p.Ser764Asn) c.2423G>A (p.Ser808Asn) n.329+3586C>T | |
6 | g.33443020G>C | CA363625293 | SYNGAP1,SYNGAP1-AS1 | c.2210G>C (p.Ser737Thr) c.2468G>C (p.Ser823Thr) c.2426G>C (p.Ser809Thr) c.2291G>C (p.Ser764Thr) c.2423G>C (p.Ser808Thr) n.329+3586C>G | |
6 | g.33443020G>T | CA363625290 | SYNGAP1,SYNGAP1-AS1 | c.2210G>T (p.Ser737Ile) c.2468G>T (p.Ser823Ile) c.2426G>T (p.Ser809Ile) c.2291G>T (p.Ser764Ile) c.2423G>T (p.Ser808Ile) n.329+3586C>A | |
6 | g.33443021C>A | CA363625296 | SYNGAP1,SYNGAP1-AS1 | c.2211C>A (p.Ser737Arg) c.2469C>A (p.Ser823Arg) c.2427C>A (p.Ser809Arg) c.2292C>A (p.Ser764Arg) c.2424C>A (p.Ser808Arg) n.329+3585G>T | |
6 | g.33443021C>G | CA363625300 | SYNGAP1,SYNGAP1-AS1 | c.2211C>G (p.Ser737Arg) c.2469C>G (p.Ser823Arg) c.2427C>G (p.Ser809Arg) c.2292C>G (p.Ser764Arg) c.2424C>G (p.Ser808Arg) n.329+3585G>C | |
6 | g.33443021C>T | CA450103669 | SYNGAP1,SYNGAP1-AS1 | c.2211C>T (p.Ser737=) c.2469C>T (p.Ser823=) c.2427C>T (p.Ser809=) c.2292C>T (p.Ser764=) c.2424C>T (p.Ser808=) n.329+3585G>A | |
6 | g.33443022A>C | CA363625309 | SYNGAP1,SYNGAP1-AS1 | c.2212A>C (p.Ser738Arg) c.2470A>C (p.Ser824Arg) c.2428A>C (p.Ser810Arg) c.2293A>C (p.Ser765Arg) c.2425A>C (p.Ser809Arg) n.329+3584T>G | |
6 | g.33443022A>G | CA363625312 | SYNGAP1,SYNGAP1-AS1 | c.2212A>G (p.Ser738Gly) c.2470A>G (p.Ser824Gly) c.2428A>G (p.Ser810Gly) c.2293A>G (p.Ser765Gly) c.2425A>G (p.Ser809Gly) n.329+3584T>C | gnomAD v4 |
6 | g.33443022A>T | CA363625313 | SYNGAP1,SYNGAP1-AS1 | c.2212A>T (p.Ser738Cys) c.2470A>T (p.Ser824Cys) c.2428A>T (p.Ser810Cys) c.2293A>T (p.Ser765Cys) c.2425A>T (p.Ser809Cys) n.329+3584T>A | |
6 | g.33443023G>A | CA363625317 | SYNGAP1,SYNGAP1-AS1 | c.2213G>A (p.Ser738Asn) c.2471G>A (p.Ser824Asn) c.2429G>A (p.Ser810Asn) c.2294G>A (p.Ser765Asn) c.2426G>A (p.Ser809Asn) n.329+3583C>T | gnomAD v4 |
6 | g.33443023G>C | CA363625322 | SYNGAP1,SYNGAP1-AS1 | c.2213G>C (p.Ser738Thr) c.2471G>C (p.Ser824Thr) c.2429G>C (p.Ser810Thr) c.2294G>C (p.Ser765Thr) c.2426G>C (p.Ser809Thr) n.329+3583C>G | |
6 | g.33443023G>T | CA363625323 | SYNGAP1,SYNGAP1-AS1 | c.2213G>T (p.Ser738Ile) c.2471G>T (p.Ser824Ile) c.2429G>T (p.Ser810Ile) c.2294G>T (p.Ser765Ile) c.2426G>T (p.Ser809Ile) n.329+3583C>A | |
6 | g.33443024C>A | CA363625325 | SYNGAP1,SYNGAP1-AS1 | c.2214C>A (p.Ser738Arg) c.2472C>A (p.Ser824Arg) c.2430C>A (p.Ser810Arg) c.2295C>A (p.Ser765Arg) c.2427C>A (p.Ser809Arg) n.329+3582G>T | |
6 | g.33443024C>G | CA363625326 | SYNGAP1,SYNGAP1-AS1 | c.2214C>G (p.Ser738Arg) c.2472C>G (p.Ser824Arg) c.2430C>G (p.Ser810Arg) c.2295C>G (p.Ser765Arg) c.2427C>G (p.Ser809Arg) n.329+3582G>C | |
6 | g.33443024C>T | CA450103670 | SYNGAP1,SYNGAP1-AS1 | c.2214C>T (p.Ser738=) c.2472C>T (p.Ser824=) c.2430C>T (p.Ser810=) c.2295C>T (p.Ser765=) c.2427C>T (p.Ser809=) n.329+3582G>A | ClinVar |
6 | g.33443025T>A | CA363625329 | SYNGAP1,SYNGAP1-AS1 | c.2215T>A (p.Ser739Thr) c.2473T>A (p.Ser825Thr) c.2431T>A (p.Ser811Thr) c.2296T>A (p.Ser766Thr) c.2428T>A (p.Ser810Thr) n.329+3581A>T | |
6 | g.33443025T>C | CA363625330 | SYNGAP1,SYNGAP1-AS1 | c.2215T>C (p.Ser739Pro) c.2473T>C (p.Ser825Pro) c.2431T>C (p.Ser811Pro) c.2296T>C (p.Ser766Pro) c.2428T>C (p.Ser810Pro) n.329+3581A>G | |
6 | g.33443025T>G | CA363625331 | SYNGAP1,SYNGAP1-AS1 | c.2215T>G (p.Ser739Ala) c.2473T>G (p.Ser825Ala) c.2431T>G (p.Ser811Ala) c.2296T>G (p.Ser766Ala) c.2428T>G (p.Ser810Ala) n.329+3581A>C | |
6 | g.33443026C>A | CA363625332 | SYNGAP1,SYNGAP1-AS1 | c.2216C>A (p.Ser739Ter) c.2474C>A (p.Ser825Ter) c.2432C>A (p.Ser811Ter) c.2297C>A (p.Ser766Ter) c.2429C>A (p.Ser810Ter) n.329+3580G>T | |
6 | g.33443026C= | CA1620014476 | SYNGAP1,SYNGAP1-AS1 | c.2216C= (p.Ser739=) c.2474C= (p.Ser825=) c.2432C= (p.Ser811=) c.2297C= (p.Ser766=) c.2429C= (p.Ser810=) n.329+3580G= | |
6 | g.33443026C>G | CA363625334 | SYNGAP1,SYNGAP1-AS1 | c.2216C>G (p.Ser739Trp) c.2474C>G (p.Ser825Trp) c.2432C>G (p.Ser811Trp) c.2297C>G (p.Ser766Trp) c.2429C>G (p.Ser810Trp) n.329+3580G>C | |
6 | g.33443026C>T | CA363625333 | SYNGAP1,SYNGAP1-AS1 | c.2216C>T (p.Ser739Leu) c.2474C>T (p.Ser825Leu) c.2432C>T (p.Ser811Leu) c.2297C>T (p.Ser766Leu) c.2429C>T (p.Ser810Leu) n.329+3580G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443027_33443030dup | CA2695202917 | SYNGAP1,SYNGAP1-AS1 | c.2217_2220dup (p.Ile741GlyfsTer24) c.2475_2478dup (p.Ile827GlyfsTer24) c.2433_2436dup (p.Ile813GlyfsTer24) c.2298_2301dup (p.Ile768GlyfsTer24) c.2430_2433dup (p.Ile812GlyfsTer24) n.329+3577_329+3580dup | |
6 | g.33443027G>A | CA3758914 | SYNGAP1,SYNGAP1-AS1 | c.2217G>A (p.Ser739=) c.2475G>A (p.Ser825=) c.2433G>A (p.Ser811=) c.2298G>A (p.Ser766=) c.2430G>A (p.Ser810=) n.329+3579C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443027G>C | CA450103671 | SYNGAP1,SYNGAP1-AS1 | c.2217G>C (p.Ser739=) c.2475G>C (p.Ser825=) c.2433G>C (p.Ser811=) c.2298G>C (p.Ser766=) c.2430G>C (p.Ser810=) n.329+3579C>G | |
6 | g.33443027G= | CA1620014477 | SYNGAP1,SYNGAP1-AS1 | c.2217G= (p.Ser739=) c.2475G= (p.Ser825=) c.2433G= (p.Ser811=) c.2298G= (p.Ser766=) c.2430G= (p.Ser810=) n.329+3579C= | |
6 | g.33443027G>T | CA450103672 | SYNGAP1,SYNGAP1-AS1 | c.2217G>T (p.Ser739=) c.2475G>T (p.Ser825=) c.2433G>T (p.Ser811=) c.2298G>T (p.Ser766=) c.2430G>T (p.Ser810=) n.329+3579C>A | |
6 | g.33443028G>A | CA363625340 | SYNGAP1,SYNGAP1-AS1 | c.2218G>A (p.Asp740Asn) c.2476G>A (p.Asp826Asn) c.2434G>A (p.Asp812Asn) c.2299G>A (p.Asp767Asn) c.2431G>A (p.Asp811Asn) n.329+3578C>T | |
6 | g.33443028G>C | CA363625344 | SYNGAP1,SYNGAP1-AS1 | c.2218G>C (p.Asp740His) c.2476G>C (p.Asp826His) c.2434G>C (p.Asp812His) c.2299G>C (p.Asp767His) c.2431G>C (p.Asp811His) n.329+3578C>G | |
6 | g.33443028G>T | CA363625349 | SYNGAP1,SYNGAP1-AS1 | c.2218G>T (p.Asp740Tyr) c.2476G>T (p.Asp826Tyr) c.2434G>T (p.Asp812Tyr) c.2299G>T (p.Asp767Tyr) c.2431G>T (p.Asp811Tyr) n.329+3578C>A | |
6 | g.33443029A>C | CA363625352 | SYNGAP1,SYNGAP1-AS1 | c.2219A>C (p.Asp740Ala) c.2477A>C (p.Asp826Ala) c.2435A>C (p.Asp812Ala) c.2300A>C (p.Asp767Ala) c.2432A>C (p.Asp811Ala) n.329+3577T>G | |
6 | g.33443029A>G | CA363625355 | SYNGAP1,SYNGAP1-AS1 | c.2219A>G (p.Asp740Gly) c.2477A>G (p.Asp826Gly) c.2435A>G (p.Asp812Gly) c.2300A>G (p.Asp767Gly) c.2432A>G (p.Asp811Gly) n.329+3577T>C | |
6 | g.33443029A>T | CA363625360 | SYNGAP1,SYNGAP1-AS1 | c.2219A>T (p.Asp740Val) c.2477A>T (p.Asp826Val) c.2435A>T (p.Asp812Val) c.2300A>T (p.Asp767Val) c.2432A>T (p.Asp811Val) n.329+3577T>A | |
6 | g.33443030C>A | CA363625366 | SYNGAP1,SYNGAP1-AS1 | c.2220C>A (p.Asp740Glu) c.2478C>A (p.Asp826Glu) c.2436C>A (p.Asp812Glu) c.2301C>A (p.Asp767Glu) c.2433C>A (p.Asp811Glu) n.329+3576G>T | |
6 | g.33443030C= | CA1620014478 | SYNGAP1,SYNGAP1-AS1 | c.2220C= (p.Asp740=) c.2478C= (p.Asp826=) c.2436C= (p.Asp812=) c.2301C= (p.Asp767=) c.2433C= (p.Asp811=) n.329+3576G= | |
6 | g.33443030C>G | CA363625373 | SYNGAP1,SYNGAP1-AS1 | c.2220C>G (p.Asp740Glu) c.2478C>G (p.Asp826Glu) c.2436C>G (p.Asp812Glu) c.2301C>G (p.Asp767Glu) c.2433C>G (p.Asp811Glu) n.329+3576G>C | |
6 | g.33443030C>T | CA3758915 | SYNGAP1,SYNGAP1-AS1 | c.2220C>T (p.Asp740=) c.2478C>T (p.Asp826=) c.2436C>T (p.Asp812=) c.2301C>T (p.Asp767=) c.2433C>T (p.Asp811=) n.329+3576G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443031A>C | CA363625392 | SYNGAP1,SYNGAP1-AS1 | c.2221A>C (p.Ile741Leu) c.2479A>C (p.Ile827Leu) c.2437A>C (p.Ile813Leu) c.2302A>C (p.Ile768Leu) c.2434A>C (p.Ile812Leu) n.329+3575T>G | |
6 | g.33443031A>G | CA363625390 | SYNGAP1,SYNGAP1-AS1 | c.2221A>G (p.Ile741Val) c.2479A>G (p.Ile827Val) c.2437A>G (p.Ile813Val) c.2302A>G (p.Ile768Val) c.2434A>G (p.Ile812Val) n.329+3575T>C | |
6 | g.33443031A>T | CA363625378 | SYNGAP1,SYNGAP1-AS1 | c.2221A>T (p.Ile741Phe) c.2479A>T (p.Ile827Phe) c.2437A>T (p.Ile813Phe) c.2302A>T (p.Ile768Phe) c.2434A>T (p.Ile812Phe) n.329+3575T>A | |
6 | g.33443032T>A | CA363625395 | SYNGAP1,SYNGAP1-AS1 | c.2222T>A (p.Ile741Asn) c.2480T>A (p.Ile827Asn) c.2438T>A (p.Ile813Asn) c.2303T>A (p.Ile768Asn) c.2435T>A (p.Ile812Asn) n.329+3574A>T | |
6 | g.33443032T>C | CA363625398 | SYNGAP1,SYNGAP1-AS1 | c.2222T>C (p.Ile741Thr) c.2480T>C (p.Ile827Thr) c.2438T>C (p.Ile813Thr) c.2303T>C (p.Ile768Thr) c.2435T>C (p.Ile812Thr) n.329+3574A>G | |
6 | g.33443032T>G | CA363625401 | SYNGAP1,SYNGAP1-AS1 | c.2222T>G (p.Ile741Ser) c.2480T>G (p.Ile827Ser) c.2438T>G (p.Ile813Ser) c.2303T>G (p.Ile768Ser) c.2435T>G (p.Ile812Ser) n.329+3574A>C | |
6 | g.33443033C>A | CA450103674 | SYNGAP1,SYNGAP1-AS1 | c.2223C>A (p.Ile741=) c.2481C>A (p.Ile827=) c.2439C>A (p.Ile813=) c.2304C>A (p.Ile768=) c.2436C>A (p.Ile812=) n.329+3573G>T | |
6 | g.33443033C>G | CA363625404 | SYNGAP1,SYNGAP1-AS1 | c.2223C>G (p.Ile741Met) c.2481C>G (p.Ile827Met) c.2439C>G (p.Ile813Met) c.2304C>G (p.Ile768Met) c.2436C>G (p.Ile812Met) n.329+3573G>C | |
6 | g.33443033C>T | CA450103673 | SYNGAP1,SYNGAP1-AS1 | c.2223C>T (p.Ile741=) c.2481C>T (p.Ile827=) c.2439C>T (p.Ile813=) c.2304C>T (p.Ile768=) c.2436C>T (p.Ile812=) n.329+3573G>A | |
6 | g.33443034A>C | CA363625406 | SYNGAP1,SYNGAP1-AS1 | c.2224A>C (p.Thr742Pro) c.2482A>C (p.Thr828Pro) c.2440A>C (p.Thr814Pro) c.2305A>C (p.Thr769Pro) c.2437A>C (p.Thr813Pro) n.329+3572T>G | |
6 | g.33443034A>G | CA363625408 | SYNGAP1,SYNGAP1-AS1 | c.2224A>G (p.Thr742Ala) c.2482A>G (p.Thr828Ala) c.2440A>G (p.Thr814Ala) c.2305A>G (p.Thr769Ala) c.2437A>G (p.Thr813Ala) n.329+3572T>C | gnomAD v4 |
6 | g.33443034A>T | CA363625411 | SYNGAP1,SYNGAP1-AS1 | c.2224A>T (p.Thr742Ser) c.2482A>T (p.Thr828Ser) c.2440A>T (p.Thr814Ser) c.2305A>T (p.Thr769Ser) c.2437A>T (p.Thr813Ser) n.329+3572T>A | |
6 | g.33443035C>A | CA363625419 | SYNGAP1,SYNGAP1-AS1 | c.2225C>A (p.Thr742Lys) c.2483C>A (p.Thr828Lys) c.2441C>A (p.Thr814Lys) c.2306C>A (p.Thr769Lys) c.2438C>A (p.Thr813Lys) n.329+3571G>T | |
6 | g.33443035C>G | CA363625422 | SYNGAP1,SYNGAP1-AS1 | c.2225C>G (p.Thr742Arg) c.2483C>G (p.Thr828Arg) c.2441C>G (p.Thr814Arg) c.2306C>G (p.Thr769Arg) c.2438C>G (p.Thr813Arg) n.329+3571G>C | |
6 | g.33443035C>T | CA363625432 | SYNGAP1,SYNGAP1-AS1 | c.2225C>T (p.Thr742Ile) c.2483C>T (p.Thr828Ile) c.2441C>T (p.Thr814Ile) c.2306C>T (p.Thr769Ile) c.2438C>T (p.Thr813Ile) n.329+3571G>A | |
6 | g.33443036A= | CA1620014479 | SYNGAP1,SYNGAP1-AS1 | c.2226A= (p.Thr742=) c.2484A= (p.Thr828=) c.2442A= (p.Thr814=) c.2307A= (p.Thr769=) c.2439A= (p.Thr813=) n.329+3570T= | |
6 | g.33443036A>C | CA450103675 | SYNGAP1,SYNGAP1-AS1 | c.2226A>C (p.Thr742=) c.2484A>C (p.Thr828=) c.2442A>C (p.Thr814=) c.2307A>C (p.Thr769=) c.2439A>C (p.Thr813=) n.329+3570T>G | |
6 | g.33443036A>G | CA450103677 | SYNGAP1,SYNGAP1-AS1 | c.2226A>G (p.Thr742=) c.2484A>G (p.Thr828=) c.2442A>G (p.Thr814=) c.2307A>G (p.Thr769=) c.2439A>G (p.Thr813=) n.329+3570T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443036A>T | CA450103676 | SYNGAP1,SYNGAP1-AS1 | c.2226A>T (p.Thr742=) c.2484A>T (p.Thr828=) c.2442A>T (p.Thr814=) c.2307A>T (p.Thr769=) c.2439A>T (p.Thr813=) n.329+3570T>A | |
6 | g.33443037G>A | CA363625433 | SYNGAP1,SYNGAP1-AS1 | c.2227G>A (p.Glu743Lys) c.2485G>A (p.Glu829Lys) c.2443G>A (p.Glu815Lys) c.2308G>A (p.Glu770Lys) c.2440G>A (p.Glu814Lys) n.329+3569C>T | ClinVar |
6 | g.33443037G>C | CA363625436 | SYNGAP1,SYNGAP1-AS1 | c.2227G>C (p.Glu743Gln) c.2485G>C (p.Glu829Gln) c.2443G>C (p.Glu815Gln) c.2308G>C (p.Glu770Gln) c.2440G>C (p.Glu814Gln) n.329+3569C>G | |
6 | g.33443037G= | CA1620014480 | SYNGAP1,SYNGAP1-AS1 | c.2227G= (p.Glu743=) c.2485G= (p.Glu829=) c.2443G= (p.Glu815=) c.2308G= (p.Glu770=) c.2440G= (p.Glu814=) n.329+3569C= | |
6 | g.33443037G>T | CA363625437 | SYNGAP1,SYNGAP1-AS1 | c.2227G>T (p.Glu743Ter) c.2485G>T (p.Glu829Ter) c.2443G>T (p.Glu815Ter) c.2308G>T (p.Glu770Ter) c.2440G>T (p.Glu814Ter) n.329+3569C>A | dbSNP |
6 | g.33443038A>C | CA363625443 | SYNGAP1,SYNGAP1-AS1 | c.2228A>C (p.Glu743Ala) c.2486A>C (p.Glu829Ala) c.2444A>C (p.Glu815Ala) c.2309A>C (p.Glu770Ala) c.2441A>C (p.Glu814Ala) n.329+3568T>G | |
6 | g.33443038A>G | CA363625440 | SYNGAP1,SYNGAP1-AS1 | c.2228A>G (p.Glu743Gly) c.2486A>G (p.Glu829Gly) c.2444A>G (p.Glu815Gly) c.2309A>G (p.Glu770Gly) c.2441A>G (p.Glu814Gly) n.329+3568T>C | |
6 | g.33443038A>T | CA363625442 | SYNGAP1,SYNGAP1-AS1 | c.2228A>T (p.Glu743Val) c.2486A>T (p.Glu829Val) c.2444A>T (p.Glu815Val) c.2309A>T (p.Glu770Val) c.2441A>T (p.Glu814Val) n.329+3568T>A | |
6 | g.33443039G>A | CA450103678 | SYNGAP1,SYNGAP1-AS1 | c.2229G>A (p.Glu743=) c.2487G>A (p.Glu829=) c.2445G>A (p.Glu815=) c.2310G>A (p.Glu770=) c.2442G>A (p.Glu814=) n.329+3567C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443039G>C | CA363625445 | SYNGAP1,SYNGAP1-AS1 | c.2229G>C (p.Glu743Asp) c.2487G>C (p.Glu829Asp) c.2445G>C (p.Glu815Asp) c.2310G>C (p.Glu770Asp) c.2442G>C (p.Glu814Asp) n.329+3567C>G | |
6 | g.33443039G= | CA1620014481 | SYNGAP1,SYNGAP1-AS1 | c.2229G= (p.Glu743=) c.2487G= (p.Glu829=) c.2445G= (p.Glu815=) c.2310G= (p.Glu770=) c.2442G= (p.Glu814=) n.329+3567C= | |
6 | g.33443039G>T | CA363625448 | SYNGAP1,SYNGAP1-AS1 | c.2229G>T (p.Glu743Asp) c.2487G>T (p.Glu829Asp) c.2445G>T (p.Glu815Asp) c.2310G>T (p.Glu770Asp) c.2442G>T (p.Glu814Asp) n.329+3567C>A | |
6 | g.33443040C>A | CA363625451 | SYNGAP1,SYNGAP1-AS1 | c.2230C>A (p.Pro744Thr) c.2488C>A (p.Pro830Thr) c.2446C>A (p.Pro816Thr) c.2311C>A (p.Pro771Thr) c.2443C>A (p.Pro815Thr) n.329+3566G>T | |
6 | g.33443040C>G | CA363625453 | SYNGAP1,SYNGAP1-AS1 | c.2230C>G (p.Pro744Ala) c.2488C>G (p.Pro830Ala) c.2446C>G (p.Pro816Ala) c.2311C>G (p.Pro771Ala) c.2443C>G (p.Pro815Ala) n.329+3566G>C | |
6 | g.33443040C>T | CA363625455 | SYNGAP1,SYNGAP1-AS1 | c.2230C>T (p.Pro744Ser) c.2488C>T (p.Pro830Ser) c.2446C>T (p.Pro816Ser) c.2311C>T (p.Pro771Ser) c.2443C>T (p.Pro815Ser) n.329+3566G>A | |
6 | g.33443041C>A | CA363625457 | SYNGAP1,SYNGAP1-AS1 | c.2231C>A (p.Pro744Gln) c.2489C>A (p.Pro830Gln) c.2447C>A (p.Pro816Gln) c.2312C>A (p.Pro771Gln) c.2444C>A (p.Pro815Gln) n.329+3565G>T | |
6 | g.33443041C>G | CA363625459 | SYNGAP1,SYNGAP1-AS1 | c.2231C>G (p.Pro744Arg) c.2489C>G (p.Pro830Arg) c.2447C>G (p.Pro816Arg) c.2312C>G (p.Pro771Arg) c.2444C>G (p.Pro815Arg) n.329+3565G>C | |
6 | g.33443041C>T | CA363625460 | SYNGAP1,SYNGAP1-AS1 | c.2231C>T (p.Pro744Leu) c.2489C>T (p.Pro830Leu) c.2447C>T (p.Pro816Leu) c.2312C>T (p.Pro771Leu) c.2444C>T (p.Pro815Leu) n.329+3565G>A | |
6 | g.33443042A>C | CA450103679 | SYNGAP1,SYNGAP1-AS1 | c.2232A>C (p.Pro744=) c.2490A>C (p.Pro830=) c.2448A>C (p.Pro816=) c.2313A>C (p.Pro771=) c.2445A>C (p.Pro815=) n.329+3564T>G | |
6 | g.33443042A>G | CA450103680 | SYNGAP1,SYNGAP1-AS1 | c.2232A>G (p.Pro744=) c.2490A>G (p.Pro830=) c.2448A>G (p.Pro816=) c.2313A>G (p.Pro771=) c.2445A>G (p.Pro815=) n.329+3564T>C | |
6 | g.33443042A>T | CA450103681 | SYNGAP1,SYNGAP1-AS1 | c.2232A>T (p.Pro744=) c.2490A>T (p.Pro830=) c.2448A>T (p.Pro816=) c.2313A>T (p.Pro771=) c.2445A>T (p.Pro815=) n.329+3564T>A | |
6 | g.33443043G>A | CA363625463 | SYNGAP1,SYNGAP1-AS1 | c.2233G>A (p.Glu745Lys) c.2491G>A (p.Glu831Lys) c.2449G>A (p.Glu817Lys) c.2314G>A (p.Glu772Lys) c.2446G>A (p.Glu816Lys) n.329+3563C>T | |
6 | g.33443043G>C | CA363625465 | SYNGAP1,SYNGAP1-AS1 | c.2233G>C (p.Glu745Gln) c.2491G>C (p.Glu831Gln) c.2449G>C (p.Glu817Gln) c.2314G>C (p.Glu772Gln) c.2446G>C (p.Glu816Gln) n.329+3563C>G | |
6 | g.33443043G= | CA1620014482 | SYNGAP1,SYNGAP1-AS1 | c.2233G= (p.Glu745=) c.2491G= (p.Glu831=) c.2449G= (p.Glu817=) c.2314G= (p.Glu772=) c.2446G= (p.Glu816=) n.329+3563C= | |
6 | g.33443043G>T | CA363625467 | SYNGAP1,SYNGAP1-AS1 | c.2233G>T (p.Glu745Ter) c.2491G>T (p.Glu831Ter) c.2449G>T (p.Glu817Ter) c.2314G>T (p.Glu772Ter) c.2446G>T (p.Glu816Ter) n.329+3563C>A | dbSNP |
6 | g.33443044A>C | CA363625474 | SYNGAP1,SYNGAP1-AS1 | c.2234A>C (p.Glu745Ala) c.2492A>C (p.Glu831Ala) c.2450A>C (p.Glu817Ala) c.2315A>C (p.Glu772Ala) c.2447A>C (p.Glu816Ala) n.329+3562T>G | |
6 | g.33443044A>G | CA363625472 | SYNGAP1,SYNGAP1-AS1 | c.2234A>G (p.Glu745Gly) c.2492A>G (p.Glu831Gly) c.2450A>G (p.Glu817Gly) c.2315A>G (p.Glu772Gly) c.2447A>G (p.Glu816Gly) n.329+3562T>C | |
6 | g.33443044A>T | CA363625469 | SYNGAP1,SYNGAP1-AS1 | c.2234A>T (p.Glu745Val) c.2492A>T (p.Glu831Val) c.2450A>T (p.Glu817Val) c.2315A>T (p.Glu772Val) c.2447A>T (p.Glu816Val) n.329+3562T>A | |
6 | g.33443045G>A | CA450103682 | SYNGAP1,SYNGAP1-AS1 | c.2235G>A (p.Glu745=) c.2493G>A (p.Glu831=) c.2451G>A (p.Glu817=) c.2316G>A (p.Glu772=) c.2448G>A (p.Glu816=) n.329+3561C>T | |
6 | g.33443045G>C | CA363625478 | SYNGAP1,SYNGAP1-AS1 | c.2235G>C (p.Glu745Asp) c.2493G>C (p.Glu831Asp) c.2451G>C (p.Glu817Asp) c.2316G>C (p.Glu772Asp) c.2448G>C (p.Glu816Asp) n.329+3561C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443045G= | CA1620014483 | SYNGAP1,SYNGAP1-AS1 | c.2235G= (p.Glu745=) c.2493G= (p.Glu831=) c.2451G= (p.Glu817=) c.2316G= (p.Glu772=) c.2448G= (p.Glu816=) n.329+3561C= | |
6 | g.33443045G>T | CA363625479 | SYNGAP1,SYNGAP1-AS1 | c.2235G>T (p.Glu745Asp) c.2493G>T (p.Glu831Asp) c.2451G>T (p.Glu817Asp) c.2316G>T (p.Glu772Asp) c.2448G>T (p.Glu816Asp) n.329+3561C>A | |
6 | g.33443046C>A | CA363625481 | SYNGAP1,SYNGAP1-AS1 | c.2236C>A (p.Gln746Lys) c.2494C>A (p.Gln832Lys) c.2452C>A (p.Gln818Lys) c.2317C>A (p.Gln773Lys) c.2449C>A (p.Gln817Lys) n.329+3560G>T | |
6 | g.33443046C= | CA1620014484 | SYNGAP1,SYNGAP1-AS1 | c.2236C= (p.Gln746=) c.2494C= (p.Gln832=) c.2452C= (p.Gln818=) c.2317C= (p.Gln773=) c.2449C= (p.Gln817=) n.329+3560G= | |
6 | g.33443046C>G | CA363625484 | SYNGAP1,SYNGAP1-AS1 | c.2236C>G (p.Gln746Glu) c.2494C>G (p.Gln832Glu) c.2452C>G (p.Gln818Glu) c.2317C>G (p.Gln773Glu) c.2449C>G (p.Gln817Glu) n.329+3560G>C | |
6 | g.33443046C>T | CA363625486 | SYNGAP1,SYNGAP1-AS1 | c.2236C>T (p.Gln746Ter) c.2494C>T (p.Gln832Ter) c.2452C>T (p.Gln818Ter) c.2317C>T (p.Gln773Ter) c.2449C>T (p.Gln817Ter) n.329+3560G>A | ClinVar dbSNP |
6 | g.33443047A>C | CA363625488 | SYNGAP1,SYNGAP1-AS1 | c.2237A>C (p.Gln746Pro) c.2495A>C (p.Gln832Pro) c.2453A>C (p.Gln818Pro) c.2318A>C (p.Gln773Pro) c.2450A>C (p.Gln817Pro) n.329+3559T>G | |
6 | g.33443047A>G | CA363625491 | SYNGAP1,SYNGAP1-AS1 | c.2237A>G (p.Gln746Arg) c.2495A>G (p.Gln832Arg) c.2453A>G (p.Gln818Arg) c.2318A>G (p.Gln773Arg) c.2450A>G (p.Gln817Arg) n.329+3559T>C | |
6 | g.33443047A>T | CA363625492 | SYNGAP1,SYNGAP1-AS1 | c.2237A>T (p.Gln746Leu) c.2495A>T (p.Gln832Leu) c.2453A>T (p.Gln818Leu) c.2318A>T (p.Gln773Leu) c.2450A>T (p.Gln817Leu) n.329+3559T>A | |
6 | g.33443048G>A | CA450103683 | SYNGAP1,SYNGAP1-AS1 | c.2238G>A (p.Gln746=) c.2496G>A (p.Gln832=) c.2454G>A (p.Gln818=) c.2319G>A (p.Gln773=) c.2451G>A (p.Gln817=) n.329+3558C>T | |
6 | g.33443048G>C | CA363625495 | SYNGAP1,SYNGAP1-AS1 | c.2238G>C (p.Gln746His) c.2496G>C (p.Gln832His) c.2454G>C (p.Gln818His) c.2319G>C (p.Gln773His) c.2451G>C (p.Gln817His) n.329+3558C>G | |
6 | g.33443048G>T | CA363625498 | SYNGAP1,SYNGAP1-AS1 | c.2238G>T (p.Gln746His) c.2496G>T (p.Gln832His) c.2454G>T (p.Gln818His) c.2319G>T (p.Gln773His) c.2451G>T (p.Gln817His) n.329+3558C>A | |
6 | g.33443049A= | CA1620014485 | SYNGAP1,SYNGAP1-AS1 | c.2239A= (p.Lys747=) c.2497A= (p.Lys833=) c.2455A= (p.Lys819=) c.2320A= (p.Lys774=) c.2452A= (p.Lys818=) n.329+3557T= | |
6 | g.33443049A>C | CA363625500 | SYNGAP1,SYNGAP1-AS1 | c.2239A>C (p.Lys747Gln) c.2497A>C (p.Lys833Gln) c.2455A>C (p.Lys819Gln) c.2320A>C (p.Lys774Gln) c.2452A>C (p.Lys818Gln) n.329+3557T>G | |
6 | g.33443049A>G | CA363625501 | SYNGAP1,SYNGAP1-AS1 | c.2239A>G (p.Lys747Glu) c.2497A>G (p.Lys833Glu) c.2455A>G (p.Lys819Glu) c.2320A>G (p.Lys774Glu) c.2452A>G (p.Lys818Glu) n.329+3557T>C | |
6 | g.33443049A>T | CA363625504 | SYNGAP1,SYNGAP1-AS1 | c.2239A>T (p.Lys747Ter) c.2497A>T (p.Lys833Ter) c.2455A>T (p.Lys819Ter) c.2320A>T (p.Lys774Ter) c.2452A>T (p.Lys818Ter) n.329+3557T>A | dbSNP |
6 | g.33443050A>C | CA363625510 | SYNGAP1,SYNGAP1-AS1 | c.2240A>C (p.Lys747Thr) c.2498A>C (p.Lys833Thr) c.2456A>C (p.Lys819Thr) c.2321A>C (p.Lys774Thr) c.2453A>C (p.Lys818Thr) n.329+3556T>G | |
6 | g.33443050A>G | CA363625509 | SYNGAP1,SYNGAP1-AS1 | c.2240A>G (p.Lys747Arg) c.2498A>G (p.Lys833Arg) c.2456A>G (p.Lys819Arg) c.2321A>G (p.Lys774Arg) c.2453A>G (p.Lys818Arg) n.329+3556T>C | |
6 | g.33443050A>T | CA363625507 | SYNGAP1,SYNGAP1-AS1 | c.2240A>T (p.Lys747Met) c.2498A>T (p.Lys833Met) c.2456A>T (p.Lys819Met) c.2321A>T (p.Lys774Met) c.2453A>T (p.Lys818Met) n.329+3556T>A | |
6 | g.33443051G>A | CA450103684 | SYNGAP1,SYNGAP1-AS1 | c.2241G>A (p.Lys747=) c.2499G>A (p.Lys833=) c.2457G>A (p.Lys819=) c.2322G>A (p.Lys774=) c.2454G>A (p.Lys818=) n.329+3555C>T | |
6 | g.33443051G>C | CA363625513 | SYNGAP1,SYNGAP1-AS1 | c.2241G>C (p.Lys747Asn) c.2499G>C (p.Lys833Asn) c.2457G>C (p.Lys819Asn) c.2322G>C (p.Lys774Asn) c.2454G>C (p.Lys818Asn) n.329+3555C>G | |
6 | g.33443051G>T | CA363625515 | SYNGAP1,SYNGAP1-AS1 | c.2241G>T (p.Lys747Asn) c.2499G>T (p.Lys833Asn) c.2457G>T (p.Lys819Asn) c.2322G>T (p.Lys774Asn) c.2454G>T (p.Lys818Asn) n.329+3555C>A | |
6 | g.33443052A>C | CA363625517 | SYNGAP1,SYNGAP1-AS1 | c.2242A>C (p.Met748Leu) c.2500A>C (p.Met834Leu) c.2458A>C (p.Met820Leu) c.2323A>C (p.Met775Leu) c.2455A>C (p.Met819Leu) n.329+3554T>G | |
6 | g.33443052A>G | CA363625520 | SYNGAP1,SYNGAP1-AS1 | c.2242A>G (p.Met748Val) c.2500A>G (p.Met834Val) c.2458A>G (p.Met820Val) c.2323A>G (p.Met775Val) c.2455A>G (p.Met819Val) n.329+3554T>C | |
6 | g.33443052A>T | CA363625521 | SYNGAP1,SYNGAP1-AS1 | c.2242A>T (p.Met748Leu) c.2500A>T (p.Met834Leu) c.2458A>T (p.Met820Leu) c.2323A>T (p.Met775Leu) c.2455A>T (p.Met819Leu) n.329+3554T>A | |
6 | g.33443053T>A | CA363625524 | SYNGAP1,SYNGAP1-AS1 | c.2243T>A (p.Met748Lys) c.2501T>A (p.Met834Lys) c.2459T>A (p.Met820Lys) c.2324T>A (p.Met775Lys) c.2456T>A (p.Met819Lys) n.329+3553A>T | |
6 | g.33443053T>C | CA363625527 | SYNGAP1,SYNGAP1-AS1 | c.2243T>C (p.Met748Thr) c.2501T>C (p.Met834Thr) c.2459T>C (p.Met820Thr) c.2324T>C (p.Met775Thr) c.2456T>C (p.Met819Thr) n.329+3553A>G | |
6 | g.33443053T>G | CA363625528 | SYNGAP1,SYNGAP1-AS1 | c.2243T>G (p.Met748Arg) c.2501T>G (p.Met834Arg) c.2459T>G (p.Met820Arg) c.2324T>G (p.Met775Arg) c.2456T>G (p.Met819Arg) n.329+3553A>C | |
6 | g.33443054G>A | CA363625531 | SYNGAP1,SYNGAP1-AS1 | c.2244G>A (p.Met748Ile) c.2502G>A (p.Met834Ile) c.2460G>A (p.Met820Ile) c.2325G>A (p.Met775Ile) c.2457G>A (p.Met819Ile) n.329+3552C>T | |
6 | g.33443054G>C | CA363625532 | SYNGAP1,SYNGAP1-AS1 | c.2244G>C (p.Met748Ile) c.2502G>C (p.Met834Ile) c.2460G>C (p.Met820Ile) c.2325G>C (p.Met775Ile) c.2457G>C (p.Met819Ile) n.329+3552C>G | ClinVar |
6 | g.33443054G>T | CA363625535 | SYNGAP1,SYNGAP1-AS1 | c.2244G>T (p.Met748Ile) c.2502G>T (p.Met834Ile) c.2460G>T (p.Met820Ile) c.2325G>T (p.Met775Ile) c.2457G>T (p.Met819Ile) n.329+3552C>A | |
6 | g.33443055C>A | CA363625539 | SYNGAP1,SYNGAP1-AS1 | c.2245C>A (p.Leu749Met) c.2503C>A (p.Leu835Met) c.2461C>A (p.Leu821Met) c.2326C>A (p.Leu776Met) c.2458C>A (p.Leu820Met) n.329+3551G>T | ClinVar |
6 | g.33443055C>G | CA363625541 | SYNGAP1,SYNGAP1-AS1 | c.2245C>G (p.Leu749Val) c.2503C>G (p.Leu835Val) c.2461C>G (p.Leu821Val) c.2326C>G (p.Leu776Val) c.2458C>G (p.Leu820Val) n.329+3551G>C | gnomAD v4 |
6 | g.33443055C>T | CA450103685 | SYNGAP1,SYNGAP1-AS1 | c.2245C>T (p.Leu749=) c.2503C>T (p.Leu835=) c.2461C>T (p.Leu821=) c.2326C>T (p.Leu776=) c.2458C>T (p.Leu820=) n.329+3551G>A | |
6 | g.33443056T>A | CA363625548 | SYNGAP1,SYNGAP1-AS1 | c.2246T>A (p.Leu749Gln) c.2504T>A (p.Leu835Gln) c.2462T>A (p.Leu821Gln) c.2327T>A (p.Leu776Gln) c.2459T>A (p.Leu820Gln) n.329+3550A>T | |
6 | g.33443056T>C | CA363625545 | SYNGAP1,SYNGAP1-AS1 | c.2246T>C (p.Leu749Pro) c.2504T>C (p.Leu835Pro) c.2462T>C (p.Leu821Pro) c.2327T>C (p.Leu776Pro) c.2459T>C (p.Leu820Pro) n.329+3550A>G | |
6 | g.33443056T>G | CA363625543 | SYNGAP1,SYNGAP1-AS1 | c.2246T>G (p.Leu749Arg) c.2504T>G (p.Leu835Arg) c.2462T>G (p.Leu821Arg) c.2327T>G (p.Leu776Arg) c.2459T>G (p.Leu820Arg) n.329+3550A>C | |
6 | g.33443057G>A | CA450103686 | SYNGAP1,SYNGAP1-AS1 | c.2247G>A (p.Leu749=) c.2505G>A (p.Leu835=) c.2463G>A (p.Leu821=) c.2328G>A (p.Leu776=) c.2460G>A (p.Leu820=) n.329+3549C>T | |
6 | g.33443057G>C | CA450103687 | SYNGAP1,SYNGAP1-AS1 | c.2247G>C (p.Leu749=) c.2505G>C (p.Leu835=) c.2463G>C (p.Leu821=) c.2328G>C (p.Leu776=) c.2460G>C (p.Leu820=) n.329+3549C>G | |
6 | g.33443057G>T | CA450103688 | SYNGAP1,SYNGAP1-AS1 | c.2247G>T (p.Leu749=) c.2505G>T (p.Leu835=) c.2463G>T (p.Leu821=) c.2328G>T (p.Leu776=) c.2460G>T (p.Leu820=) n.329+3549C>A | |
6 | g.33443058A= | CA1620014486 | SYNGAP1,SYNGAP1-AS1 | c.2248A= (p.Ser750=) c.2506A= (p.Ser836=) c.2464A= (p.Ser822=) c.2329A= (p.Ser777=) c.2461A= (p.Ser821=) n.329+3548T= | |
6 | g.33443058A>C | CA363625552 | SYNGAP1,SYNGAP1-AS1 | c.2248A>C (p.Ser750Arg) c.2506A>C (p.Ser836Arg) c.2464A>C (p.Ser822Arg) c.2329A>C (p.Ser777Arg) c.2461A>C (p.Ser821Arg) n.329+3548T>G | |
6 | g.33443058A>G | CA363625550 | SYNGAP1,SYNGAP1-AS1 | c.2248A>G (p.Ser750Gly) c.2506A>G (p.Ser836Gly) c.2464A>G (p.Ser822Gly) c.2329A>G (p.Ser777Gly) c.2461A>G (p.Ser821Gly) n.329+3548T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443058A>T | CA363625551 | SYNGAP1,SYNGAP1-AS1 | c.2248A>T (p.Ser750Cys) c.2506A>T (p.Ser836Cys) c.2464A>T (p.Ser822Cys) c.2329A>T (p.Ser777Cys) c.2461A>T (p.Ser821Cys) n.329+3548T>A | |
6 | g.33443059G>A | CA363625556 | SYNGAP1,SYNGAP1-AS1 | c.2249G>A (p.Ser750Asn) c.2507G>A (p.Ser836Asn) c.2465G>A (p.Ser822Asn) c.2330G>A (p.Ser777Asn) c.2462G>A (p.Ser821Asn) n.329+3547C>T | |
6 | g.33443059G>C | CA363625558 | SYNGAP1,SYNGAP1-AS1 | c.2249G>C (p.Ser750Thr) c.2507G>C (p.Ser836Thr) c.2465G>C (p.Ser822Thr) c.2330G>C (p.Ser777Thr) c.2462G>C (p.Ser821Thr) n.329+3547C>G | |
6 | g.33443059G>T | CA363625560 | SYNGAP1,SYNGAP1-AS1 | c.2249G>T (p.Ser750Ile) c.2507G>T (p.Ser836Ile) c.2465G>T (p.Ser822Ile) c.2330G>T (p.Ser777Ile) c.2462G>T (p.Ser821Ile) n.329+3547C>A | |
6 | g.33443060T>A | CA363625561 | SYNGAP1,SYNGAP1-AS1 | c.2250T>A (p.Ser750Arg) c.2508T>A (p.Ser836Arg) c.2466T>A (p.Ser822Arg) c.2331T>A (p.Ser777Arg) c.2463T>A (p.Ser821Arg) n.329+3546A>T | |
6 | g.33443060T>C | CA450103689 | SYNGAP1,SYNGAP1-AS1 | c.2250T>C (p.Ser750=) c.2508T>C (p.Ser836=) c.2466T>C (p.Ser822=) c.2331T>C (p.Ser777=) c.2463T>C (p.Ser821=) n.329+3546A>G | |
6 | g.33443060T>G | CA363625562 | SYNGAP1,SYNGAP1-AS1 | c.2250T>G (p.Ser750Arg) c.2508T>G (p.Ser836Arg) c.2466T>G (p.Ser822Arg) c.2331T>G (p.Ser777Arg) c.2463T>G (p.Ser821Arg) n.329+3546A>C | |
6 | g.33443061G>A | CA363625564 | SYNGAP1,SYNGAP1-AS1 | c.2251G>A (p.Val751Ile) c.2509G>A (p.Val837Ile) c.2467G>A (p.Val823Ile) c.2332G>A (p.Val778Ile) c.2464G>A (p.Val822Ile) n.329+3545C>T | gnomAD v4 |
6 | g.33443061G>C | CA363625566 | SYNGAP1,SYNGAP1-AS1 | c.2251G>C (p.Val751Leu) c.2509G>C (p.Val837Leu) c.2467G>C (p.Val823Leu) c.2332G>C (p.Val778Leu) c.2464G>C (p.Val822Leu) n.329+3545C>G | |
6 | g.33443061G>T | CA363625568 | SYNGAP1,SYNGAP1-AS1 | c.2251G>T (p.Val751Phe) c.2509G>T (p.Val837Phe) c.2467G>T (p.Val823Phe) c.2332G>T (p.Val778Phe) c.2464G>T (p.Val822Phe) n.329+3545C>A | |
6 | g.33443062T>A | CA363625571 | SYNGAP1,SYNGAP1-AS1 | c.2252T>A (p.Val751Asp) c.2510T>A (p.Val837Asp) c.2468T>A (p.Val823Asp) c.2333T>A (p.Val778Asp) c.2465T>A (p.Val822Asp) n.329+3544A>T | |
6 | g.33443062T>C | CA363625574 | SYNGAP1,SYNGAP1-AS1 | c.2252T>C (p.Val751Ala) c.2510T>C (p.Val837Ala) c.2468T>C (p.Val823Ala) c.2333T>C (p.Val778Ala) c.2465T>C (p.Val822Ala) n.329+3544A>G | |
6 | g.33443062T>G | CA363625576 | SYNGAP1,SYNGAP1-AS1 | c.2252T>G (p.Val751Gly) c.2510T>G (p.Val837Gly) c.2468T>G (p.Val823Gly) c.2333T>G (p.Val778Gly) c.2465T>G (p.Val822Gly) n.329+3544A>C | COSMIC COSMIC |
6 | g.33443063C>A | CA450103692 | SYNGAP1,SYNGAP1-AS1 | c.2253C>A (p.Val751=) c.2511C>A (p.Val837=) c.2469C>A (p.Val823=) c.2334C>A (p.Val778=) c.2466C>A (p.Val822=) n.329+3543G>T | |
6 | g.33443063C= | CA1620014487 | SYNGAP1,SYNGAP1-AS1 | c.2253C= (p.Val751=) c.2511C= (p.Val837=) c.2469C= (p.Val823=) c.2334C= (p.Val778=) c.2466C= (p.Val822=) n.329+3543G= | |
6 | g.33443063C>G | CA450103691 | SYNGAP1,SYNGAP1-AS1 | c.2253C>G (p.Val751=) c.2511C>G (p.Val837=) c.2469C>G (p.Val823=) c.2334C>G (p.Val778=) c.2466C>G (p.Val822=) n.329+3543G>C | |
6 | g.33443063C>T | CA450103690 | SYNGAP1,SYNGAP1-AS1 | c.2253C>T (p.Val751=) c.2511C>T (p.Val837=) c.2469C>T (p.Val823=) c.2334C>T (p.Val778=) c.2466C>T (p.Val822=) n.329+3543G>A | dbSNP |
6 | g.33443064A>C | CA363625582 | SYNGAP1,SYNGAP1-AS1 | c.2254A>C (p.Asn752His) c.2512A>C (p.Asn838His) c.2470A>C (p.Asn824His) c.2335A>C (p.Asn779His) c.2467A>C (p.Asn823His) n.329+3542T>G | |
6 | g.33443064A>G | CA363625578 | SYNGAP1,SYNGAP1-AS1 | c.2254A>G (p.Asn752Asp) c.2512A>G (p.Asn838Asp) c.2470A>G (p.Asn824Asp) c.2335A>G (p.Asn779Asp) c.2467A>G (p.Asn823Asp) n.329+3542T>C | |
6 | g.33443064A>T | CA363625579 | SYNGAP1,SYNGAP1-AS1 | c.2254A>T (p.Asn752Tyr) c.2512A>T (p.Asn838Tyr) c.2470A>T (p.Asn824Tyr) c.2335A>T (p.Asn779Tyr) c.2467A>T (p.Asn823Tyr) n.329+3542T>A | |
6 | g.33443065A>C | CA363625592 | SYNGAP1,SYNGAP1-AS1 | c.2255A>C (p.Asn752Thr) c.2513A>C (p.Asn838Thr) c.2471A>C (p.Asn824Thr) c.2336A>C (p.Asn779Thr) c.2468A>C (p.Asn823Thr) n.329+3541T>G | |
6 | g.33443065A>G | CA363625594 | SYNGAP1,SYNGAP1-AS1 | c.2255A>G (p.Asn752Ser) c.2513A>G (p.Asn838Ser) c.2471A>G (p.Asn824Ser) c.2336A>G (p.Asn779Ser) c.2468A>G (p.Asn823Ser) n.329+3541T>C | |
6 | g.33443065A>T | CA363625596 | SYNGAP1,SYNGAP1-AS1 | c.2255A>T (p.Asn752Ile) c.2513A>T (p.Asn838Ile) c.2471A>T (p.Asn824Ile) c.2336A>T (p.Asn779Ile) c.2468A>T (p.Asn823Ile) n.329+3541T>A | |
6 | g.33443066C>A | CA363625599 | SYNGAP1,SYNGAP1-AS1 | c.2256C>A (p.Asn752Lys) c.2514C>A (p.Asn838Lys) c.2472C>A (p.Asn824Lys) c.2337C>A (p.Asn779Lys) c.2469C>A (p.Asn823Lys) n.329+3540G>T | ClinVar dbSNP gnomAD v2 |
6 | g.33443066C= | CA1620014488 | SYNGAP1,SYNGAP1-AS1 | c.2256C= (p.Asn752=) c.2514C= (p.Asn838=) c.2472C= (p.Asn824=) c.2337C= (p.Asn779=) c.2469C= (p.Asn823=) n.329+3540G= | |
6 | g.33443066C>G | CA363625601 | SYNGAP1,SYNGAP1-AS1 | c.2256C>G (p.Asn752Lys) c.2514C>G (p.Asn838Lys) c.2472C>G (p.Asn824Lys) c.2337C>G (p.Asn779Lys) c.2469C>G (p.Asn823Lys) n.329+3540G>C | |
6 | g.33443066C>T | CA450103693 | SYNGAP1,SYNGAP1-AS1 | c.2256C>T (p.Asn752=) c.2514C>T (p.Asn838=) c.2472C>T (p.Asn824=) c.2337C>T (p.Asn779=) c.2469C>T (p.Asn823=) n.329+3540G>A | gnomAD v4 |
6 | g.33443067A>C | CA363625604 | SYNGAP1,SYNGAP1-AS1 | c.2257A>C (p.Lys753Gln) c.2515A>C (p.Lys839Gln) c.2473A>C (p.Lys825Gln) c.2338A>C (p.Lys780Gln) c.2470A>C (p.Lys824Gln) n.329+3539T>G | |
6 | g.33443067A>G | CA363625605 | SYNGAP1,SYNGAP1-AS1 | c.2257A>G (p.Lys753Glu) c.2515A>G (p.Lys839Glu) c.2473A>G (p.Lys825Glu) c.2338A>G (p.Lys780Glu) c.2470A>G (p.Lys824Glu) n.329+3539T>C | |
6 | g.33443067A>T | CA363625608 | SYNGAP1,SYNGAP1-AS1 | c.2257A>T (p.Lys753Ter) c.2515A>T (p.Lys839Ter) c.2473A>T (p.Lys825Ter) c.2338A>T (p.Lys780Ter) c.2470A>T (p.Lys824Ter) n.329+3539T>A | |
6 | g.33443068dup | CA2573140290 | SYNGAP1,SYNGAP1-AS1 | c.2258dup (p.Ser754GlufsTer10) c.2516dup (p.Ser840GlufsTer10) c.2474dup (p.Ser826GlufsTer10) c.2339dup (p.Ser781GlufsTer10) c.2471dup (p.Ser825GlufsTer10) n.329+3539dup | ClinVar dbSNP |
6 | g.33443068A>C | CA363625611 | SYNGAP1,SYNGAP1-AS1 | c.2258A>C (p.Lys753Thr) c.2516A>C (p.Lys839Thr) c.2474A>C (p.Lys825Thr) c.2339A>C (p.Lys780Thr) c.2471A>C (p.Lys824Thr) n.329+3538T>G | |
6 | g.33443068A>G | CA363625614 | SYNGAP1,SYNGAP1-AS1 | c.2258A>G (p.Lys753Arg) c.2516A>G (p.Lys839Arg) c.2474A>G (p.Lys825Arg) c.2339A>G (p.Lys780Arg) c.2471A>G (p.Lys824Arg) n.329+3538T>C | gnomAD v4 |
6 | g.33443068A>T | CA363625618 | SYNGAP1,SYNGAP1-AS1 | c.2258A>T (p.Lys753Met) c.2516A>T (p.Lys839Met) c.2474A>T (p.Lys825Met) c.2339A>T (p.Lys780Met) c.2471A>T (p.Lys824Met) n.329+3538T>A | |
6 | g.33443069G>A | CA450103694 | SYNGAP1,SYNGAP1-AS1 | c.2259G>A (p.Lys753=) c.2517G>A (p.Lys839=) c.2475G>A (p.Lys825=) c.2340G>A (p.Lys780=) c.2472G>A (p.Lys824=) n.329+3537C>T | gnomAD v4 |
6 | g.33443069G>C | CA363625622 | SYNGAP1,SYNGAP1-AS1 | c.2259G>C (p.Lys753Asn) c.2517G>C (p.Lys839Asn) c.2475G>C (p.Lys825Asn) c.2340G>C (p.Lys780Asn) c.2472G>C (p.Lys824Asn) n.329+3537C>G | |
6 | g.33443069G>T | CA363625624 | SYNGAP1,SYNGAP1-AS1 | c.2259G>T (p.Lys753Asn) c.2517G>T (p.Lys839Asn) c.2475G>T (p.Lys825Asn) c.2340G>T (p.Lys780Asn) c.2472G>T (p.Lys824Asn) n.329+3537C>A | |
6 | g.33443070A>C | CA363625629 | SYNGAP1,SYNGAP1-AS1 | c.2260A>C (p.Ser754Arg) c.2518A>C (p.Ser840Arg) c.2476A>C (p.Ser826Arg) c.2341A>C (p.Ser781Arg) c.2473A>C (p.Ser825Arg) n.329+3536T>G | |
6 | g.33443070A>G | CA363625632 | SYNGAP1,SYNGAP1-AS1 | c.2260A>G (p.Ser754Gly) c.2518A>G (p.Ser840Gly) c.2476A>G (p.Ser826Gly) c.2341A>G (p.Ser781Gly) c.2473A>G (p.Ser825Gly) n.329+3536T>C | |
6 | g.33443070A>T | CA363625627 | SYNGAP1,SYNGAP1-AS1 | c.2260A>T (p.Ser754Cys) c.2518A>T (p.Ser840Cys) c.2476A>T (p.Ser826Cys) c.2341A>T (p.Ser781Cys) c.2473A>T (p.Ser825Cys) n.329+3536T>A | ClinVar |
6 | g.33443071G>A | CA363625635 | SYNGAP1,SYNGAP1-AS1 | c.2261G>A (p.Ser754Asn) c.2519G>A (p.Ser840Asn) c.2477G>A (p.Ser826Asn) c.2342G>A (p.Ser781Asn) c.2474G>A (p.Ser825Asn) n.329+3535C>T | |
6 | g.33443071G>C | CA363625637 | SYNGAP1,SYNGAP1-AS1 | c.2261G>C (p.Ser754Thr) c.2519G>C (p.Ser840Thr) c.2477G>C (p.Ser826Thr) c.2342G>C (p.Ser781Thr) c.2474G>C (p.Ser825Thr) n.329+3535C>G | |
6 | g.33443071G>T | CA363625639 | SYNGAP1,SYNGAP1-AS1 | c.2261G>T (p.Ser754Ile) c.2519G>T (p.Ser840Ile) c.2477G>T (p.Ser826Ile) c.2342G>T (p.Ser781Ile) c.2474G>T (p.Ser825Ile) n.329+3535C>A | |
6 | g.33443072T>A | CA363625642 | SYNGAP1,SYNGAP1-AS1 | c.2262T>A (p.Ser754Arg) c.2520T>A (p.Ser840Arg) c.2478T>A (p.Ser826Arg) c.2343T>A (p.Ser781Arg) c.2475T>A (p.Ser825Arg) n.329+3534A>T | |
6 | g.33443072T>C | CA3758916 | SYNGAP1,SYNGAP1-AS1 | c.2262T>C (p.Ser754=) c.2520T>C (p.Ser840=) c.2478T>C (p.Ser826=) c.2343T>C (p.Ser781=) c.2475T>C (p.Ser825=) n.329+3534A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443072T>G | CA363625644 | SYNGAP1,SYNGAP1-AS1 | c.2262T>G (p.Ser754Arg) c.2520T>G (p.Ser840Arg) c.2478T>G (p.Ser826Arg) c.2343T>G (p.Ser781Arg) c.2475T>G (p.Ser825Arg) n.329+3534A>C | |
6 | g.33443072T= | CA1620014489 | SYNGAP1,SYNGAP1-AS1 | c.2262T= (p.Ser754=) c.2520T= (p.Ser840=) c.2478T= (p.Ser826=) c.2343T= (p.Ser781=) c.2475T= (p.Ser825=) n.329+3534A= | |
6 | g.33443073G>A | CA363625652 | SYNGAP1,SYNGAP1-AS1 | c.2263G>A (p.Val755Met) c.2521G>A (p.Val841Met) c.2479G>A (p.Val827Met) c.2344G>A (p.Val782Met) c.2476G>A (p.Val826Met) n.329+3533C>T | ClinVar gnomAD v4 |
6 | g.33443073G>C | CA363625650 | SYNGAP1,SYNGAP1-AS1 | c.2263G>C (p.Val755Leu) c.2521G>C (p.Val841Leu) c.2479G>C (p.Val827Leu) c.2344G>C (p.Val782Leu) c.2476G>C (p.Val826Leu) n.329+3533C>G | |
6 | g.33443073G>T | CA363625647 | SYNGAP1,SYNGAP1-AS1 | c.2263G>T (p.Val755Leu) c.2521G>T (p.Val841Leu) c.2479G>T (p.Val827Leu) c.2344G>T (p.Val782Leu) c.2476G>T (p.Val826Leu) n.329+3533C>A | |
6 | g.33443074T>A | CA363625655 | SYNGAP1,SYNGAP1-AS1 | c.2264T>A (p.Val755Glu) c.2522T>A (p.Val841Glu) c.2480T>A (p.Val827Glu) c.2345T>A (p.Val782Glu) c.2477T>A (p.Val826Glu) n.329+3532A>T | |
6 | g.33443074T>C | CA363625656 | SYNGAP1,SYNGAP1-AS1 | c.2264T>C (p.Val755Ala) c.2522T>C (p.Val841Ala) c.2480T>C (p.Val827Ala) c.2345T>C (p.Val782Ala) c.2477T>C (p.Val826Ala) n.329+3532A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443074T>G | CA363625659 | SYNGAP1,SYNGAP1-AS1 | c.2264T>G (p.Val755Gly) c.2522T>G (p.Val841Gly) c.2480T>G (p.Val827Gly) c.2345T>G (p.Val782Gly) c.2477T>G (p.Val826Gly) n.329+3532A>C | |
6 | g.33443074T= | CA1620014490 | SYNGAP1,SYNGAP1-AS1 | c.2264T= (p.Val755=) c.2522T= (p.Val841=) c.2480T= (p.Val827=) c.2345T= (p.Val782=) c.2477T= (p.Val826=) n.329+3532A= | |
6 | g.33443075G>A | CA450103695 | SYNGAP1,SYNGAP1-AS1 | c.2265G>A (p.Val755=) c.2523G>A (p.Val841=) c.2481G>A (p.Val827=) c.2346G>A (p.Val782=) c.2478G>A (p.Val826=) n.329+3531C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443075G>C | CA450103696 | SYNGAP1,SYNGAP1-AS1 | c.2265G>C (p.Val755=) c.2523G>C (p.Val841=) c.2481G>C (p.Val827=) c.2346G>C (p.Val782=) c.2478G>C (p.Val826=) n.329+3531C>G | |
6 | g.33443075G= | CA1620014491 | SYNGAP1,SYNGAP1-AS1 | c.2265G= (p.Val755=) c.2523G= (p.Val841=) c.2481G= (p.Val827=) c.2346G= (p.Val782=) c.2478G= (p.Val826=) n.329+3531C= | |
6 | g.33443075G>T | CA450103697 | SYNGAP1,SYNGAP1-AS1 | c.2265G>T (p.Val755=) c.2523G>T (p.Val841=) c.2481G>T (p.Val827=) c.2346G>T (p.Val782=) c.2478G>T (p.Val826=) n.329+3531C>A | |
6 | g.33443076T>A | CA363625660 | SYNGAP1,SYNGAP1-AS1 | c.2266T>A (p.Ser756Thr) c.2524T>A (p.Ser842Thr) c.2482T>A (p.Ser828Thr) c.2347T>A (p.Ser783Thr) c.2479T>A (p.Ser827Thr) n.329+3530A>T | |
6 | g.33443076T>C | CA363625663 | SYNGAP1,SYNGAP1-AS1 | c.2266T>C (p.Ser756Pro) c.2524T>C (p.Ser842Pro) c.2482T>C (p.Ser828Pro) c.2347T>C (p.Ser783Pro) c.2479T>C (p.Ser827Pro) n.329+3530A>G | |
6 | g.33443076T>G | CA363625665 | SYNGAP1,SYNGAP1-AS1 | c.2266T>G (p.Ser756Ala) c.2524T>G (p.Ser842Ala) c.2482T>G (p.Ser828Ala) c.2347T>G (p.Ser783Ala) c.2479T>G (p.Ser827Ala) n.329+3530A>C | |
6 | g.33443077_33443080dup | CA1139659338 | SYNGAP1,SYNGAP1-AS1 | c.2267_2270dup (p.Met757IlefsTer8) c.2525_2528dup (p.Met843IlefsTer8) c.2483_2486dup (p.Met829IlefsTer8) c.2348_2351dup (p.Met784IlefsTer8) c.2480_2483dup (p.Met828IlefsTer8) n.329+3527_329+3530dup | ClinVar dbSNP |
6 | g.33443077C>A | CA363625668 | SYNGAP1,SYNGAP1-AS1 | c.2267C>A (p.Ser756Tyr) c.2525C>A (p.Ser842Tyr) c.2483C>A (p.Ser828Tyr) c.2348C>A (p.Ser783Tyr) c.2480C>A (p.Ser827Tyr) n.329+3529G>T | ClinVar dbSNP |
6 | g.33443077C= | CA1620014492 | SYNGAP1,SYNGAP1-AS1 | c.2267C= (p.Ser756=) c.2525C= (p.Ser842=) c.2483C= (p.Ser828=) c.2348C= (p.Ser783=) c.2480C= (p.Ser827=) n.329+3529G= | |
6 | g.33443077C>G | CA363625672 | SYNGAP1,SYNGAP1-AS1 | c.2267C>G (p.Ser756Cys) c.2525C>G (p.Ser842Cys) c.2483C>G (p.Ser828Cys) c.2348C>G (p.Ser783Cys) c.2480C>G (p.Ser827Cys) n.329+3529G>C | |
6 | g.33443077C>T | CA363625670 | SYNGAP1,SYNGAP1-AS1 | c.2267C>T (p.Ser756Phe) c.2525C>T (p.Ser842Phe) c.2483C>T (p.Ser828Phe) c.2348C>T (p.Ser783Phe) c.2480C>T (p.Ser827Phe) n.329+3529G>A | |
6 | g.33443078C>A | CA450103698 | SYNGAP1,SYNGAP1-AS1 | c.2268C>A (p.Ser756=) c.2526C>A (p.Ser842=) c.2484C>A (p.Ser828=) c.2349C>A (p.Ser783=) c.2481C>A (p.Ser827=) n.329+3528G>T | |
6 | g.33443078C>G | CA450103699 | SYNGAP1,SYNGAP1-AS1 | c.2268C>G (p.Ser756=) c.2526C>G (p.Ser842=) c.2484C>G (p.Ser828=) c.2349C>G (p.Ser783=) c.2481C>G (p.Ser827=) n.329+3528G>C | |
6 | g.33443078C>T | CA450103700 | SYNGAP1,SYNGAP1-AS1 | c.2268C>T (p.Ser756=) c.2526C>T (p.Ser842=) c.2484C>T (p.Ser828=) c.2349C>T (p.Ser783=) c.2481C>T (p.Ser827=) n.329+3528G>A | |
6 | g.33443079A>C | CA363625674 | SYNGAP1,SYNGAP1-AS1 | c.2269A>C (p.Met757Leu) c.2527A>C (p.Met843Leu) c.2485A>C (p.Met829Leu) c.2350A>C (p.Met784Leu) c.2482A>C (p.Met828Leu) n.329+3527T>G | |
6 | g.33443079A>G | CA363625675 | SYNGAP1,SYNGAP1-AS1 | c.2269A>G (p.Met757Val) c.2527A>G (p.Met843Val) c.2485A>G (p.Met829Val) c.2350A>G (p.Met784Val) c.2482A>G (p.Met828Val) n.329+3527T>C | |
6 | g.33443079A>T | CA363625678 | SYNGAP1,SYNGAP1-AS1 | c.2269A>T (p.Met757Leu) c.2527A>T (p.Met843Leu) c.2485A>T (p.Met829Leu) c.2350A>T (p.Met784Leu) c.2482A>T (p.Met828Leu) n.329+3527T>A | |
6 | g.33443080T>A | CA363625681 | SYNGAP1,SYNGAP1-AS1 | c.2270T>A (p.Met757Lys) c.2528T>A (p.Met843Lys) c.2486T>A (p.Met829Lys) c.2351T>A (p.Met784Lys) c.2483T>A (p.Met828Lys) n.329+3526A>T | |
6 | g.33443080T>C | CA363625683 | SYNGAP1,SYNGAP1-AS1 | c.2270T>C (p.Met757Thr) c.2528T>C (p.Met843Thr) c.2486T>C (p.Met829Thr) c.2351T>C (p.Met784Thr) c.2483T>C (p.Met828Thr) n.329+3526A>G | |
6 | g.33443080T>G | CA363625685 | SYNGAP1,SYNGAP1-AS1 | c.2270T>G (p.Met757Arg) c.2528T>G (p.Met843Arg) c.2486T>G (p.Met829Arg) c.2351T>G (p.Met784Arg) c.2483T>G (p.Met828Arg) n.329+3526A>C | |
6 | g.33443081G>A | CA363625687 | SYNGAP1,SYNGAP1-AS1 | c.2271G>A (p.Met757Ile) c.2529G>A (p.Met843Ile) c.2487G>A (p.Met829Ile) c.2352G>A (p.Met784Ile) c.2484G>A (p.Met828Ile) n.329+3525C>T | gnomAD v4 |
6 | g.33443081G>C | CA363625689 | SYNGAP1,SYNGAP1-AS1 | c.2271G>C (p.Met757Ile) c.2529G>C (p.Met843Ile) c.2487G>C (p.Met829Ile) c.2352G>C (p.Met784Ile) c.2484G>C (p.Met828Ile) n.329+3525C>G | |
6 | g.33443081G>T | CA363625692 | SYNGAP1,SYNGAP1-AS1 | c.2271G>T (p.Met757Ile) c.2529G>T (p.Met843Ile) c.2487G>T (p.Met829Ile) c.2352G>T (p.Met784Ile) c.2484G>T (p.Met828Ile) n.329+3525C>A | |
6 | g.33443082C>A | CA363625694 | SYNGAP1,SYNGAP1-AS1 | c.2272C>A (p.Leu758Met) c.2530C>A (p.Leu844Met) c.2488C>A (p.Leu830Met) c.2353C>A (p.Leu785Met) c.2485C>A (p.Leu829Met) n.329+3524G>T | |
6 | g.33443082C>G | CA363625697 | SYNGAP1,SYNGAP1-AS1 | c.2272C>G (p.Leu758Val) c.2530C>G (p.Leu844Val) c.2488C>G (p.Leu830Val) c.2353C>G (p.Leu785Val) c.2485C>G (p.Leu829Val) n.329+3524G>C | |
6 | g.33443082C>T | CA450103701 | SYNGAP1,SYNGAP1-AS1 | c.2272C>T (p.Leu758=) c.2530C>T (p.Leu844=) c.2488C>T (p.Leu830=) c.2353C>T (p.Leu785=) c.2485C>T (p.Leu829=) n.329+3524G>A | |
6 | g.33443083T>A | CA363625699 | SYNGAP1,SYNGAP1-AS1 | c.2273T>A (p.Leu758Gln) c.2531T>A (p.Leu844Gln) c.2489T>A (p.Leu830Gln) c.2354T>A (p.Leu785Gln) c.2486T>A (p.Leu829Gln) n.329+3523A>T | |
6 | g.33443083T>C | CA363625704 | SYNGAP1,SYNGAP1-AS1 | c.2273T>C (p.Leu758Pro) c.2531T>C (p.Leu844Pro) c.2489T>C (p.Leu830Pro) c.2354T>C (p.Leu785Pro) c.2486T>C (p.Leu829Pro) n.329+3523A>G | |
6 | g.33443083T>G | CA363625701 | SYNGAP1,SYNGAP1-AS1 | c.2273T>G (p.Leu758Arg) c.2531T>G (p.Leu844Arg) c.2489T>G (p.Leu830Arg) c.2354T>G (p.Leu785Arg) c.2486T>G (p.Leu829Arg) n.329+3523A>C | |
6 | g.33443084G>A | CA450103702 | SYNGAP1,SYNGAP1-AS1 | c.2274G>A (p.Leu758=) c.2532G>A (p.Leu844=) c.2490G>A (p.Leu830=) c.2355G>A (p.Leu785=) c.2487G>A (p.Leu829=) n.329+3522C>T | |
6 | g.33443084G>C | CA450103704 | SYNGAP1,SYNGAP1-AS1 | c.2274G>C (p.Leu758=) c.2532G>C (p.Leu844=) c.2490G>C (p.Leu830=) c.2355G>C (p.Leu785=) c.2487G>C (p.Leu829=) n.329+3522C>G | |
6 | g.33443084G>T | CA450103703 | SYNGAP1,SYNGAP1-AS1 | c.2274G>T (p.Leu758=) c.2532G>T (p.Leu844=) c.2490G>T (p.Leu830=) c.2355G>T (p.Leu785=) c.2487G>T (p.Leu829=) n.329+3522C>A | |
6 | g.33443085G>A | CA363625706 | SYNGAP1,SYNGAP1-AS1 | c.2275G>A (p.Asp759Asn) c.2533G>A (p.Asp845Asn) c.2491G>A (p.Asp831Asn) c.2356G>A (p.Asp786Asn) c.2488G>A (p.Asp830Asn) n.329+3521C>T | |
6 | g.33443085G>C | CA363625707 | SYNGAP1,SYNGAP1-AS1 | c.2275G>C (p.Asp759His) c.2533G>C (p.Asp845His) c.2491G>C (p.Asp831His) c.2356G>C (p.Asp786His) c.2488G>C (p.Asp830His) n.329+3521C>G | |
6 | g.33443085G>T | CA363625710 | SYNGAP1,SYNGAP1-AS1 | c.2275G>T (p.Asp759Tyr) c.2533G>T (p.Asp845Tyr) c.2491G>T (p.Asp831Tyr) c.2356G>T (p.Asp786Tyr) c.2488G>T (p.Asp830Tyr) n.329+3521C>A | |
6 | g.33443086A>C | CA363625713 | SYNGAP1,SYNGAP1-AS1 | c.2276A>C (p.Asp759Ala) c.2534A>C (p.Asp845Ala) c.2492A>C (p.Asp831Ala) c.2357A>C (p.Asp786Ala) c.2489A>C (p.Asp830Ala) n.329+3520T>G | |
6 | g.33443086A>G | CA363625716 | SYNGAP1,SYNGAP1-AS1 | c.2276A>G (p.Asp759Gly) c.2534A>G (p.Asp845Gly) c.2492A>G (p.Asp831Gly) c.2357A>G (p.Asp786Gly) c.2489A>G (p.Asp830Gly) n.329+3520T>C | |
6 | g.33443086A>T | CA363625718 | SYNGAP1,SYNGAP1-AS1 | c.2276A>T (p.Asp759Val) c.2534A>T (p.Asp845Val) c.2492A>T (p.Asp831Val) c.2357A>T (p.Asp786Val) c.2489A>T (p.Asp830Val) n.329+3520T>A | |
6 | g.33443087C>A | CA363625721 | SYNGAP1,SYNGAP1-AS1 | c.2277C>A (p.Asp759Glu) c.2535C>A (p.Asp845Glu) c.2493C>A (p.Asp831Glu) c.2358C>A (p.Asp786Glu) c.2490C>A (p.Asp830Glu) n.329+3519G>T | |
6 | g.33443087C>G | CA363625723 | SYNGAP1,SYNGAP1-AS1 | c.2277C>G (p.Asp759Glu) c.2535C>G (p.Asp845Glu) c.2493C>G (p.Asp831Glu) c.2358C>G (p.Asp786Glu) c.2490C>G (p.Asp830Glu) n.329+3519G>C | |
6 | g.33443087C>T | CA450103705 | SYNGAP1,SYNGAP1-AS1 | c.2277C>T (p.Asp759=) c.2535C>T (p.Asp845=) c.2493C>T (p.Asp831=) c.2358C>T (p.Asp786=) c.2490C>T (p.Asp830=) n.329+3519G>A | |
6 | g.33443088T>A | CA363625726 | SYNGAP1,SYNGAP1-AS1 | c.2278T>A (p.Leu760Ile) c.2536T>A (p.Leu846Ile) c.2494T>A (p.Leu832Ile) c.2359T>A (p.Leu787Ile) c.2491T>A (p.Leu831Ile) n.329+3518A>T | |
6 | g.33443088T>C | CA450103706 | SYNGAP1,SYNGAP1-AS1 | c.2278T>C (p.Leu760=) c.2536T>C (p.Leu846=) c.2494T>C (p.Leu832=) c.2359T>C (p.Leu787=) c.2491T>C (p.Leu831=) n.329+3518A>G | |
6 | g.33443088T>G | CA363625728 | SYNGAP1,SYNGAP1-AS1 | c.2278T>G (p.Leu760Val) c.2536T>G (p.Leu846Val) c.2494T>G (p.Leu832Val) c.2359T>G (p.Leu787Val) c.2491T>G (p.Leu831Val) n.329+3518A>C | |
6 | g.33443089T>A | CA363625730 | SYNGAP1,SYNGAP1-AS1 | c.2279T>A (p.Leu760Ter) c.2537T>A (p.Leu846Ter) c.2495T>A (p.Leu832Ter) c.2360T>A (p.Leu787Ter) c.2492T>A (p.Leu831Ter) n.329+3517A>T | |
6 | g.33443089T>C | CA363625732 | SYNGAP1,SYNGAP1-AS1 | c.2279T>C (p.Leu760Ser) c.2537T>C (p.Leu846Ser) c.2495T>C (p.Leu832Ser) c.2360T>C (p.Leu787Ser) c.2492T>C (p.Leu831Ser) n.329+3517A>G | |
6 | g.33443089T>G | CA363625734 | SYNGAP1,SYNGAP1-AS1 | c.2279T>G (p.Leu760Ter) c.2537T>G (p.Leu846Ter) c.2495T>G (p.Leu832Ter) c.2360T>G (p.Leu787Ter) c.2492T>G (p.Leu831Ter) n.329+3517A>C | |
6 | g.33443090A>C | CA363625738 | SYNGAP1,SYNGAP1-AS1 | c.2280A>C (p.Leu760Phe) c.2538A>C (p.Leu846Phe) c.2496A>C (p.Leu832Phe) c.2361A>C (p.Leu787Phe) c.2493A>C (p.Leu831Phe) n.329+3516T>G | |
6 | g.33443090A>G | CA450103707 | SYNGAP1,SYNGAP1-AS1 | c.2280A>G (p.Leu760=) c.2538A>G (p.Leu846=) c.2496A>G (p.Leu832=) c.2361A>G (p.Leu787=) c.2493A>G (p.Leu831=) n.329+3516T>C | |
6 | g.33443090A>T | CA363625740 | SYNGAP1,SYNGAP1-AS1 | c.2280A>T (p.Leu760Phe) c.2538A>T (p.Leu846Phe) c.2496A>T (p.Leu832Phe) c.2361A>T (p.Leu787Phe) c.2493A>T (p.Leu831Phe) n.329+3516T>A | |
6 | g.33443090dup | CA2573052681 | SYNGAP1,SYNGAP1-AS1 | c.2280dup (p.Gln761ThrfsTer3) c.2538dup (p.Gln847ThrfsTer3) c.2496dup (p.Gln833ThrfsTer3) c.2361dup (p.Gln788ThrfsTer3) c.2493dup (p.Gln832ThrfsTer3) n.329+3516dup | ClinVar dbSNP |
6 | g.33443091C>A | CA363625742 | SYNGAP1,SYNGAP1-AS1 | c.2281C>A (p.Gln761Lys) c.2539C>A (p.Gln847Lys) c.2497C>A (p.Gln833Lys) c.2362C>A (p.Gln788Lys) c.2494C>A (p.Gln832Lys) n.329+3515G>T | |
6 | g.33443091C= | CA1620014493 | SYNGAP1,SYNGAP1-AS1 | c.2281C= (p.Gln761=) c.2539C= (p.Gln847=) c.2497C= (p.Gln833=) c.2362C= (p.Gln788=) c.2494C= (p.Gln832=) n.329+3515G= | |
6 | g.33443091C>G | CA363625744 | SYNGAP1,SYNGAP1-AS1 | c.2281C>G (p.Gln761Glu) c.2539C>G (p.Gln847Glu) c.2497C>G (p.Gln833Glu) c.2362C>G (p.Gln788Glu) c.2494C>G (p.Gln832Glu) n.329+3515G>C | |
6 | g.33443091C>T | CA363625747 | SYNGAP1,SYNGAP1-AS1 | c.2281C>T (p.Gln761Ter) c.2539C>T (p.Gln847Ter) c.2497C>T (p.Gln833Ter) c.2362C>T (p.Gln788Ter) c.2494C>T (p.Gln832Ter) n.329+3515G>A | ClinVar dbSNP |
6 | g.33443092A>C | CA363625751 | SYNGAP1,SYNGAP1-AS1 | c.2282A>C (p.Gln761Pro) c.2540A>C (p.Gln847Pro) c.2498A>C (p.Gln833Pro) c.2363A>C (p.Gln788Pro) c.2495A>C (p.Gln832Pro) n.329+3514T>G | |
6 | g.33443092A>G | CA363625754 | SYNGAP1,SYNGAP1-AS1 | c.2282A>G (p.Gln761Arg) c.2540A>G (p.Gln847Arg) c.2498A>G (p.Gln833Arg) c.2363A>G (p.Gln788Arg) c.2495A>G (p.Gln832Arg) n.329+3514T>C | |
6 | g.33443092A>T | CA363625755 | SYNGAP1,SYNGAP1-AS1 | c.2282A>T (p.Gln761Leu) c.2540A>T (p.Gln847Leu) c.2498A>T (p.Gln833Leu) c.2363A>T (p.Gln788Leu) c.2495A>T (p.Gln832Leu) n.329+3514T>A | |
6 | g.33443093G>A | CA450103708 | SYNGAP1,SYNGAP1-AS1 | c.2283G>A (p.Gln761=) c.2541G>A (p.Gln847=) c.2499G>A (p.Gln833=) c.2364G>A (p.Gln788=) c.2496G>A (p.Gln832=) n.329+3513C>T | |
6 | g.33443093G>C | CA363625756 | SYNGAP1,SYNGAP1-AS1 | c.2283G>C (p.Gln761His) c.2541G>C (p.Gln847His) c.2499G>C (p.Gln833His) c.2364G>C (p.Gln788His) c.2496G>C (p.Gln832His) n.329+3513C>G | |
6 | g.33443093G>T | CA363625764 | SYNGAP1,SYNGAP1-AS1 | c.2283G>T (p.Gln761His) c.2541G>T (p.Gln847His) c.2499G>T (p.Gln833His) c.2364G>T (p.Gln788His) c.2496G>T (p.Gln832His) n.329+3513C>A | |
6 | g.33443094G>A | CA363625769 | SYNGAP1,SYNGAP1-AS1 | c.2284G>A (p.Gly762Ser) c.2542G>A (p.Gly848Ser) c.2500G>A (p.Gly834Ser) c.2365G>A (p.Gly789Ser) c.2497G>A (p.Gly833Ser) n.329+3512C>T | |
6 | g.33443094G>C | CA363625771 | SYNGAP1,SYNGAP1-AS1 | c.2284G>C (p.Gly762Arg) c.2542G>C (p.Gly848Arg) c.2500G>C (p.Gly834Arg) c.2365G>C (p.Gly789Arg) c.2497G>C (p.Gly833Arg) n.329+3512C>G | |
6 | g.33443094G>T | CA363625773 | SYNGAP1,SYNGAP1-AS1 | c.2284G>T (p.Gly762Cys) c.2542G>T (p.Gly848Cys) c.2500G>T (p.Gly834Cys) c.2365G>T (p.Gly789Cys) c.2497G>T (p.Gly833Cys) n.329+3512C>A | |
6 | g.33443095G>A | CA363625780 | SYNGAP1,SYNGAP1-AS1 | c.2285G>A (p.Gly762Asp) c.2543G>A (p.Gly848Asp) c.2501G>A (p.Gly834Asp) c.2366G>A (p.Gly789Asp) c.2498G>A (p.Gly833Asp) n.329+3511C>T | |
6 | g.33443095G>C | CA363625779 | SYNGAP1,SYNGAP1-AS1 | c.2285G>C (p.Gly762Ala) c.2543G>C (p.Gly848Ala) c.2501G>C (p.Gly834Ala) c.2366G>C (p.Gly789Ala) c.2498G>C (p.Gly833Ala) n.329+3511C>G | |
6 | g.33443095G>T | CA363625776 | SYNGAP1,SYNGAP1-AS1 | c.2285G>T (p.Gly762Val) c.2543G>T (p.Gly848Val) c.2501G>T (p.Gly834Val) c.2366G>T (p.Gly789Val) c.2498G>T (p.Gly833Val) n.329+3511C>A | gnomAD v4 |
6 | g.33443096T>A | CA450103709 | SYNGAP1,SYNGAP1-AS1 | c.2286T>A (p.Gly762=) c.2544T>A (p.Gly848=) c.2502T>A (p.Gly834=) c.2367T>A (p.Gly789=) c.2499T>A (p.Gly833=) n.329+3510A>T | |
6 | g.33443096T>C | CA450103711 | SYNGAP1,SYNGAP1-AS1 | c.2286T>C (p.Gly762=) c.2544T>C (p.Gly848=) c.2502T>C (p.Gly834=) c.2367T>C (p.Gly789=) c.2499T>C (p.Gly833=) n.329+3510A>G | |
6 | g.33443096T>G | CA450103710 | SYNGAP1,SYNGAP1-AS1 | c.2286T>G (p.Gly762=) c.2544T>G (p.Gly848=) c.2502T>G (p.Gly834=) c.2367T>G (p.Gly789=) c.2499T>G (p.Gly833=) n.329+3510A>C | |
6 | g.33443097G>A | CA363625784 | SYNGAP1,SYNGAP1-AS1 | c.2287G>A (p.Asp763Asn) c.2545G>A (p.Asp849Asn) c.2503G>A (p.Asp835Asn) c.2368G>A (p.Asp790Asn) c.2500G>A (p.Asp834Asn) n.329+3509C>T | |
6 | g.33443097G>C | CA363625788 | SYNGAP1,SYNGAP1-AS1 | c.2287G>C (p.Asp763His) c.2545G>C (p.Asp849His) c.2503G>C (p.Asp835His) c.2368G>C (p.Asp790His) c.2500G>C (p.Asp834His) n.329+3509C>G | |
6 | g.33443097G>T | CA363625786 | SYNGAP1,SYNGAP1-AS1 | c.2287G>T (p.Asp763Tyr) c.2545G>T (p.Asp849Tyr) c.2503G>T (p.Asp835Tyr) c.2368G>T (p.Asp790Tyr) c.2500G>T (p.Asp834Tyr) n.329+3509C>A | |
6 | g.33443098A>C | CA363625790 | SYNGAP1,SYNGAP1-AS1 | c.2288A>C (p.Asp763Ala) c.2546A>C (p.Asp849Ala) c.2504A>C (p.Asp835Ala) c.2369A>C (p.Asp790Ala) c.2501A>C (p.Asp834Ala) n.329+3508T>G | |
6 | g.33443098A>G | CA363625796 | SYNGAP1,SYNGAP1-AS1 | c.2288A>G (p.Asp763Gly) c.2546A>G (p.Asp849Gly) c.2504A>G (p.Asp835Gly) c.2369A>G (p.Asp790Gly) c.2501A>G (p.Asp834Gly) n.329+3508T>C | |
6 | g.33443098A>T | CA363625793 | SYNGAP1,SYNGAP1-AS1 | c.2288A>T (p.Asp763Val) c.2546A>T (p.Asp849Val) c.2504A>T (p.Asp835Val) c.2369A>T (p.Asp790Val) c.2501A>T (p.Asp834Val) n.329+3508T>A | |
6 | g.33443099T>A | CA363625799 | SYNGAP1,SYNGAP1-AS1 | c.2289T>A (p.Asp763Glu) c.2547T>A (p.Asp849Glu) c.2505T>A (p.Asp835Glu) c.2370T>A (p.Asp790Glu) c.2502T>A (p.Asp834Glu) n.329+3507A>T | |
6 | g.33443099T>C | CA450103712 | SYNGAP1,SYNGAP1-AS1 | c.2289T>C (p.Asp763=) c.2547T>C (p.Asp849=) c.2505T>C (p.Asp835=) c.2370T>C (p.Asp790=) c.2502T>C (p.Asp834=) n.329+3507A>G | |
6 | g.33443099T>G | CA363625800 | SYNGAP1,SYNGAP1-AS1 | c.2289T>G (p.Asp763Glu) c.2547T>G (p.Asp849Glu) c.2505T>G (p.Asp835Glu) c.2370T>G (p.Asp790Glu) c.2502T>G (p.Asp834Glu) n.329+3507A>C | |
6 | g.33443100G>A | CA363625803 | SYNGAP1,SYNGAP1-AS1 | c.2290G>A (p.Gly764Arg) c.2548G>A (p.Gly850Arg) c.2506G>A (p.Gly836Arg) c.2371G>A (p.Gly791Arg) c.2503G>A (p.Gly835Arg) n.329+3506C>T | ClinVar |
6 | g.33443100G>C | CA363625806 | SYNGAP1,SYNGAP1-AS1 | c.2290G>C (p.Gly764Arg) c.2548G>C (p.Gly850Arg) c.2506G>C (p.Gly836Arg) c.2371G>C (p.Gly791Arg) c.2503G>C (p.Gly835Arg) n.329+3506C>G | |
6 | g.33443100G>T | CA363625809 | SYNGAP1,SYNGAP1-AS1 | c.2290G>T (p.Gly764Trp) c.2548G>T (p.Gly850Trp) c.2506G>T (p.Gly836Trp) c.2371G>T (p.Gly791Trp) c.2503G>T (p.Gly835Trp) n.329+3506C>A | |
6 | g.33443102del | CA2739272901 | SYNGAP1,SYNGAP1-AS1 | c.2292del (p.Pro765LeufsTer16) c.2550del (p.Pro851LeufsTer16) c.2508del (p.Pro837LeufsTer16) c.2373del (p.Pro792LeufsTer16) c.2505del (p.Pro836LeufsTer16) n.329+3506del | ClinVar |
6 | g.33443101G>A | CA363625812 | SYNGAP1,SYNGAP1-AS1 | c.2291G>A (p.Gly764Glu) c.2549G>A (p.Gly850Glu) c.2507G>A (p.Gly836Glu) c.2372G>A (p.Gly791Glu) c.2504G>A (p.Gly835Glu) n.329+3505C>T | |
6 | g.33443101G>C | CA363625815 | SYNGAP1,SYNGAP1-AS1 | c.2291G>C (p.Gly764Ala) c.2549G>C (p.Gly850Ala) c.2507G>C (p.Gly836Ala) c.2372G>C (p.Gly791Ala) c.2504G>C (p.Gly835Ala) n.329+3505C>G | |
6 | g.33443101G>T | CA363625817 | SYNGAP1,SYNGAP1-AS1 | c.2291G>T (p.Gly764Val) c.2549G>T (p.Gly850Val) c.2507G>T (p.Gly836Val) c.2372G>T (p.Gly791Val) c.2504G>T (p.Gly835Val) n.329+3505C>A | |
6 | g.33443102G>A | CA450103713 | SYNGAP1,SYNGAP1-AS1 | c.2292G>A (p.Gly764=) c.2550G>A (p.Gly850=) c.2508G>A (p.Gly836=) c.2373G>A (p.Gly791=) c.2505G>A (p.Gly835=) n.329+3504C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443102G>C | CA450103714 | SYNGAP1,SYNGAP1-AS1 | c.2292G>C (p.Gly764=) c.2550G>C (p.Gly850=) c.2508G>C (p.Gly836=) c.2373G>C (p.Gly791=) c.2505G>C (p.Gly835=) n.329+3504C>G | |
6 | g.33443102G= | CA1620014494 | SYNGAP1,SYNGAP1-AS1 | c.2292G= (p.Gly764=) c.2550G= (p.Gly850=) c.2508G= (p.Gly836=) c.2373G= (p.Gly791=) c.2505G= (p.Gly835=) n.329+3504C= | |
6 | g.33443102G>T | CA450103715 | SYNGAP1,SYNGAP1-AS1 | c.2292G>T (p.Gly764=) c.2550G>T (p.Gly850=) c.2508G>T (p.Gly836=) c.2373G>T (p.Gly791=) c.2505G>T (p.Gly835=) n.329+3504C>A | |
6 | g.33443103C>A | CA363625820 | SYNGAP1,SYNGAP1-AS1 | c.2293C>A (p.Pro765Thr) c.2551C>A (p.Pro851Thr) c.2509C>A (p.Pro837Thr) c.2374C>A (p.Pro792Thr) c.2506C>A (p.Pro836Thr) n.329+3503G>T | |
6 | g.33443103C>G | CA363625822 | SYNGAP1,SYNGAP1-AS1 | c.2293C>G (p.Pro765Ala) c.2551C>G (p.Pro851Ala) c.2509C>G (p.Pro837Ala) c.2374C>G (p.Pro792Ala) c.2506C>G (p.Pro836Ala) n.329+3503G>C | |
6 | g.33443103C>T | CA363625823 | SYNGAP1,SYNGAP1-AS1 | c.2293C>T (p.Pro765Ser) c.2551C>T (p.Pro851Ser) c.2509C>T (p.Pro837Ser) c.2374C>T (p.Pro792Ser) c.2506C>T (p.Pro836Ser) n.329+3503G>A | |
6 | g.33443104C>A | CA363625825 | SYNGAP1,SYNGAP1-AS1 | c.2294C>A (p.Pro765His) c.2552C>A (p.Pro851His) c.2510C>A (p.Pro837His) c.2375C>A (p.Pro792His) c.2507C>A (p.Pro836His) n.329+3502G>T | |
6 | g.33443104C>G | CA363625827 | SYNGAP1,SYNGAP1-AS1 | c.2294C>G (p.Pro765Arg) c.2552C>G (p.Pro851Arg) c.2510C>G (p.Pro837Arg) c.2375C>G (p.Pro792Arg) c.2507C>G (p.Pro836Arg) n.329+3502G>C | |
6 | g.33443104C>T | CA363625830 | SYNGAP1,SYNGAP1-AS1 | c.2294C>T (p.Pro765Leu) c.2552C>T (p.Pro851Leu) c.2510C>T (p.Pro837Leu) c.2375C>T (p.Pro792Leu) c.2507C>T (p.Pro836Leu) n.329+3502G>A | |
6 | g.33443105T>A | CA450103718 | SYNGAP1,SYNGAP1-AS1 | c.2295T>A (p.Pro765=) c.2553T>A (p.Pro851=) c.2511T>A (p.Pro837=) c.2376T>A (p.Pro792=) c.2508T>A (p.Pro836=) n.329+3501A>T | |
6 | g.33443105T>C | CA450103717 | SYNGAP1,SYNGAP1-AS1 | c.2295T>C (p.Pro765=) c.2553T>C (p.Pro851=) c.2511T>C (p.Pro837=) c.2376T>C (p.Pro792=) c.2508T>C (p.Pro836=) n.329+3501A>G | |
6 | g.33443105T>G | CA450103716 | SYNGAP1,SYNGAP1-AS1 | c.2295T>G (p.Pro765=) c.2553T>G (p.Pro851=) c.2511T>G (p.Pro837=) c.2376T>G (p.Pro792=) c.2508T>G (p.Pro836=) n.329+3501A>C | |
6 | g.33443106G>A | CA363625832 | SYNGAP1,SYNGAP1-AS1 | c.2296G>A (p.Gly766Ser) c.2554G>A (p.Gly852Ser) c.2512G>A (p.Gly838Ser) c.2377G>A (p.Gly793Ser) c.2509G>A (p.Gly837Ser) n.329+3500C>T | |
6 | g.33443106G>C | CA363625836 | SYNGAP1,SYNGAP1-AS1 | c.2296G>C (p.Gly766Arg) c.2554G>C (p.Gly852Arg) c.2512G>C (p.Gly838Arg) c.2377G>C (p.Gly793Arg) c.2509G>C (p.Gly837Arg) n.329+3500C>G | |
6 | g.33443106G>T | CA363625833 | SYNGAP1,SYNGAP1-AS1 | c.2296G>T (p.Gly766Cys) c.2554G>T (p.Gly852Cys) c.2512G>T (p.Gly838Cys) c.2377G>T (p.Gly793Cys) c.2509G>T (p.Gly837Cys) n.329+3500C>A | |
6 | g.33443107G>A | CA363625840 | SYNGAP1,SYNGAP1-AS1 | c.2297G>A (p.Gly766Asp) c.2555G>A (p.Gly852Asp) c.2513G>A (p.Gly838Asp) c.2378G>A (p.Gly793Asp) c.2510G>A (p.Gly837Asp) n.329+3499C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443107G>C | CA363625842 | SYNGAP1,SYNGAP1-AS1 | c.2297G>C (p.Gly766Ala) c.2555G>C (p.Gly852Ala) c.2513G>C (p.Gly838Ala) c.2378G>C (p.Gly793Ala) c.2510G>C (p.Gly837Ala) n.329+3499C>G | |
6 | g.33443107G= | CA1620014495 | SYNGAP1,SYNGAP1-AS1 | c.2297G= (p.Gly766=) c.2555G= (p.Gly852=) c.2513G= (p.Gly838=) c.2378G= (p.Gly793=) c.2510G= (p.Gly837=) n.329+3499C= | |
6 | g.33443107G>T | CA363625845 | SYNGAP1,SYNGAP1-AS1 | c.2297G>T (p.Gly766Val) c.2555G>T (p.Gly852Val) c.2513G>T (p.Gly838Val) c.2378G>T (p.Gly793Val) c.2510G>T (p.Gly837Val) n.329+3499C>A | |
6 | g.33443108T>A | CA450103719 | SYNGAP1,SYNGAP1-AS1 | c.2298T>A (p.Gly766=) c.2556T>A (p.Gly852=) c.2514T>A (p.Gly838=) c.2379T>A (p.Gly793=) c.2511T>A (p.Gly837=) n.329+3498A>T | |
6 | g.33443108T>C | CA450103720 | SYNGAP1,SYNGAP1-AS1 | c.2298T>C (p.Gly766=) c.2556T>C (p.Gly852=) c.2514T>C (p.Gly838=) c.2379T>C (p.Gly793=) c.2511T>C (p.Gly837=) n.329+3498A>G | |
6 | g.33443108T>G | CA450103721 | SYNGAP1,SYNGAP1-AS1 | c.2298T>G (p.Gly766=) c.2556T>G (p.Gly852=) c.2514T>G (p.Gly838=) c.2379T>G (p.Gly793=) c.2511T>G (p.Gly837=) n.329+3498A>C | |
6 | g.33443109G>A | CA363625848 | SYNGAP1,SYNGAP1-AS1 | c.2299G>A (p.Gly767Ser) c.2557G>A (p.Gly853Ser) c.2515G>A (p.Gly839Ser) c.2380G>A (p.Gly794Ser) c.2512G>A (p.Gly838Ser) n.329+3497C>T | |
6 | g.33443109G>C | CA363625851 | SYNGAP1,SYNGAP1-AS1 | c.2299G>C (p.Gly767Arg) c.2557G>C (p.Gly853Arg) c.2515G>C (p.Gly839Arg) c.2380G>C (p.Gly794Arg) c.2512G>C (p.Gly838Arg) n.329+3497C>G | |
6 | g.33443109G>T | CA363625853 | SYNGAP1,SYNGAP1-AS1 | c.2299G>T (p.Gly767Cys) c.2557G>T (p.Gly853Cys) c.2515G>T (p.Gly839Cys) c.2380G>T (p.Gly794Cys) c.2512G>T (p.Gly838Cys) n.329+3497C>A | |
6 | g.33443110G>A | CA363625857 | SYNGAP1,SYNGAP1-AS1 | c.2300G>A (p.Gly767Asp) c.2558G>A (p.Gly853Asp) c.2516G>A (p.Gly839Asp) c.2381G>A (p.Gly794Asp) c.2513G>A (p.Gly838Asp) n.329+3496C>T | |
6 | g.33443110G>C | CA363625858 | SYNGAP1,SYNGAP1-AS1 | c.2300G>C (p.Gly767Ala) c.2558G>C (p.Gly853Ala) c.2516G>C (p.Gly839Ala) c.2381G>C (p.Gly794Ala) c.2513G>C (p.Gly838Ala) n.329+3496C>G | |
6 | g.33443110G>T | CA363625859 | SYNGAP1,SYNGAP1-AS1 | c.2300G>T (p.Gly767Val) c.2558G>T (p.Gly853Val) c.2516G>T (p.Gly839Val) c.2381G>T (p.Gly794Val) c.2513G>T (p.Gly838Val) n.329+3496C>A | |
6 | g.33443111C>A | CA450103722 | SYNGAP1,SYNGAP1-AS1 | c.2301C>A (p.Gly767=) c.2559C>A (p.Gly853=) c.2517C>A (p.Gly839=) c.2382C>A (p.Gly794=) c.2514C>A (p.Gly838=) n.329+3495G>T | |
6 | g.33443111C= | CA1620014496 | SYNGAP1,SYNGAP1-AS1 | c.2301C= (p.Gly767=) c.2559C= (p.Gly853=) c.2517C= (p.Gly839=) c.2382C= (p.Gly794=) c.2514C= (p.Gly838=) n.329+3495G= | |
6 | g.33443111C>G | CA450103723 | SYNGAP1,SYNGAP1-AS1 | c.2301C>G (p.Gly767=) c.2559C>G (p.Gly853=) c.2517C>G (p.Gly839=) c.2382C>G (p.Gly794=) c.2514C>G (p.Gly838=) n.329+3495G>C | |
6 | g.33443111C>T | CA450103724 | SYNGAP1,SYNGAP1-AS1 | c.2301C>T (p.Gly767=) c.2559C>T (p.Gly853=) c.2517C>T (p.Gly839=) c.2382C>T (p.Gly794=) c.2514C>T (p.Gly838=) n.329+3495G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443112C>A | CA363625865 | SYNGAP1,SYNGAP1-AS1 | c.2302C>A (p.Arg768Ser) c.2560C>A (p.Arg854Ser) c.2518C>A (p.Arg840Ser) c.2383C>A (p.Arg795Ser) c.2515C>A (p.Arg839Ser) n.329+3494G>T | |
6 | g.33443112C= | CA1620014498 | SYNGAP1,SYNGAP1-AS1 | c.2302C= (p.Arg768=) c.2560C= (p.Arg854=) c.2518C= (p.Arg840=) c.2383C= (p.Arg795=) c.2515C= (p.Arg839=) n.329+3494G= | |
6 | g.33443112C>G | CA363625867 | SYNGAP1,SYNGAP1-AS1 | c.2302C>G (p.Arg768Gly) c.2560C>G (p.Arg854Gly) c.2518C>G (p.Arg840Gly) c.2383C>G (p.Arg795Gly) c.2515C>G (p.Arg839Gly) n.329+3494G>C | |
6 | g.33443112C>T | CA363625863 | SYNGAP1,SYNGAP1-AS1 | c.2302C>T (p.Arg768Cys) c.2560C>T (p.Arg854Cys) c.2518C>T (p.Arg840Cys) c.2383C>T (p.Arg795Cys) c.2515C>T (p.Arg839Cys) n.329+3494G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.33443112_33443129del | CA913110434 | SYNGAP1,SYNGAP1-AS1 | c.2302_2319del (p.Arg768_Ser773del) c.2560_2577del (p.Arg854_Ser859del) c.2518_2535del (p.Arg840_Ser845del) c.2383_2400del (p.Arg795_Ser800del) c.2515_2532del (p.Arg839_Ser844del) n.329+3477_329+3494del | |
6 | g.33443112_33443129delinsCGCCTCAACAGCAGCAGT | CA1620014497 | SYNGAP1,SYNGAP1-AS1 | c.2302_2319delinsCGCCTCAACAGCAGCAGT (p.Arg768=) c.2560_2577delinsCGCCTCAACAGCAGCAGT (p.Arg854=) c.2518_2535delinsCGCCTCAACAGCAGCAGT (p.Arg840=) c.2383_2400delinsCGCCTCAACAGCAGCAGT (p.Arg795=) c.2515_2532delinsCGCCTCAACAGCAGCAGT (p.Arg839=) n.329+3477_329+3494delinsACTGCTGCTGTTGAGGCG | |
6 | g.33443113G>A | CA363625869 | SYNGAP1,SYNGAP1-AS1 | c.2303G>A (p.Arg768His) c.2561G>A (p.Arg854His) c.2519G>A (p.Arg840His) c.2384G>A (p.Arg795His) c.2516G>A (p.Arg839His) n.329+3493C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
6 | g.33443113G>C | CA363625872 | SYNGAP1,SYNGAP1-AS1 | c.2303G>C (p.Arg768Pro) c.2561G>C (p.Arg854Pro) c.2519G>C (p.Arg840Pro) c.2384G>C (p.Arg795Pro) c.2516G>C (p.Arg839Pro) n.329+3493C>G | |
6 | g.33443113G= | CA1620014499 | SYNGAP1,SYNGAP1-AS1 | c.2303G= (p.Arg768=) c.2561G= (p.Arg854=) c.2519G= (p.Arg840=) c.2384G= (p.Arg795=) c.2516G= (p.Arg839=) n.329+3493C= | |
6 | g.33443113G>T | CA363625875 | SYNGAP1,SYNGAP1-AS1 | c.2303G>T (p.Arg768Leu) c.2561G>T (p.Arg854Leu) c.2519G>T (p.Arg840Leu) c.2384G>T (p.Arg795Leu) c.2516G>T (p.Arg839Leu) n.329+3493C>A | |
6 | g.33443114_33443130del | CA658822623 | SYNGAP1,SYNGAP1-AS1 | c.2304_2320del (p.Leu769PhefsTer?) c.2562_2578del (p.Leu855PhefsTer?) c.2520_2536del (p.Leu841PhefsTer?) c.2385_2401del (p.Leu796PhefsTer?) c.2517_2533del (p.Leu840PhefsTer?) n.329+3477_329+3493del | ClinVar dbSNP |
6 | g.33443114C>A | CA450103725 | SYNGAP1,SYNGAP1-AS1 | c.2304C>A (p.Arg768=) c.2562C>A (p.Arg854=) c.2520C>A (p.Arg840=) c.2385C>A (p.Arg795=) c.2517C>A (p.Arg839=) n.329+3492G>T | |
6 | g.33443114C= | CA1620014500 | SYNGAP1,SYNGAP1-AS1 | c.2304C= (p.Arg768=) c.2562C= (p.Arg854=) c.2520C= (p.Arg840=) c.2385C= (p.Arg795=) c.2517C= (p.Arg839=) n.329+3492G= | |
6 | g.33443114C>G | CA450103726 | SYNGAP1,SYNGAP1-AS1 | c.2304C>G (p.Arg768=) c.2562C>G (p.Arg854=) c.2520C>G (p.Arg840=) c.2385C>G (p.Arg795=) c.2517C>G (p.Arg839=) n.329+3492G>C | |
6 | g.33443114C>T | CA137072810 | SYNGAP1,SYNGAP1-AS1 | c.2304C>T (p.Arg768=) c.2562C>T (p.Arg854=) c.2520C>T (p.Arg840=) c.2385C>T (p.Arg795=) c.2517C>T (p.Arg839=) n.329+3492G>A | ClinVar dbSNP gnomAD v4 |
6 | g.33443115C>A | CA363625877 | SYNGAP1,SYNGAP1-AS1 | c.2305C>A (p.Leu769Ile) c.2563C>A (p.Leu855Ile) c.2521C>A (p.Leu841Ile) c.2386C>A (p.Leu796Ile) c.2518C>A (p.Leu840Ile) n.329+3491G>T | |
6 | g.33443115C= | CA1620014501 | SYNGAP1,SYNGAP1-AS1 | c.2305C= (p.Leu769=) c.2563C= (p.Leu855=) c.2521C= (p.Leu841=) c.2386C= (p.Leu796=) c.2518C= (p.Leu840=) n.329+3491G= | |
6 | g.33443115C>G | CA363625879 | SYNGAP1,SYNGAP1-AS1 | c.2305C>G (p.Leu769Val) c.2563C>G (p.Leu855Val) c.2521C>G (p.Leu841Val) c.2386C>G (p.Leu796Val) c.2518C>G (p.Leu840Val) n.329+3491G>C | dbSNP |
6 | g.33443115C>T | CA363625880 | SYNGAP1,SYNGAP1-AS1 | c.2305C>T (p.Leu769Phe) c.2563C>T (p.Leu855Phe) c.2521C>T (p.Leu841Phe) c.2386C>T (p.Leu796Phe) c.2518C>T (p.Leu840Phe) n.329+3491G>A | |
6 | g.33443116T>A | CA363625883 | SYNGAP1,SYNGAP1-AS1 | c.2306T>A (p.Leu769His) c.2564T>A (p.Leu855His) c.2522T>A (p.Leu841His) c.2387T>A (p.Leu796His) c.2519T>A (p.Leu840His) n.329+3490A>T | |
6 | g.33443116T>C | CA363625887 | SYNGAP1,SYNGAP1-AS1 | c.2306T>C (p.Leu769Pro) c.2564T>C (p.Leu855Pro) c.2522T>C (p.Leu841Pro) c.2387T>C (p.Leu796Pro) c.2519T>C (p.Leu840Pro) n.329+3490A>G | |
6 | g.33443116T>G | CA363625885 | SYNGAP1,SYNGAP1-AS1 | c.2306T>G (p.Leu769Arg) c.2564T>G (p.Leu855Arg) c.2522T>G (p.Leu841Arg) c.2387T>G (p.Leu796Arg) c.2519T>G (p.Leu840Arg) n.329+3490A>C | |
6 | g.33443117C>A | CA450103727 | SYNGAP1,SYNGAP1-AS1 | c.2307C>A (p.Leu769=) c.2565C>A (p.Leu855=) c.2523C>A (p.Leu841=) c.2388C>A (p.Leu796=) c.2520C>A (p.Leu840=) n.329+3489G>T | |
6 | g.33443117C= | CA1620014502 | SYNGAP1,SYNGAP1-AS1 | c.2307C= (p.Leu769=) c.2565C= (p.Leu855=) c.2523C= (p.Leu841=) c.2388C= (p.Leu796=) c.2520C= (p.Leu840=) n.329+3489G= | |
6 | g.33443117C>G | CA450103728 | SYNGAP1,SYNGAP1-AS1 | c.2307C>G (p.Leu769=) c.2565C>G (p.Leu855=) c.2523C>G (p.Leu841=) c.2388C>G (p.Leu796=) c.2520C>G (p.Leu840=) n.329+3489G>C | |
6 | g.33443117C>T | CA3758917 | SYNGAP1,SYNGAP1-AS1 | c.2307C>T (p.Leu769=) c.2565C>T (p.Leu855=) c.2523C>T (p.Leu841=) c.2388C>T (p.Leu796=) c.2520C>T (p.Leu840=) n.329+3489G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |