UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.41520446A= | CA2425944503 | CASK | c.2704T= (p.Trp902=) c.2701T= (p.Trp901=) c.2755T= (p.Trp919=) c.2653T= (p.Trp885=) c.2758T= (p.Trp920=) c.1375T= (p.Trp459=) c.2686T= (p.Trp896=) c.2617T= (p.Trp873=) n.1534T= n.914T= c.554T= c.2737T= (p.Trp913=) c.2668T= (p.Trp890=) c.2740T= (p.Trp914=) n.2986T= c.2842T= (p.Trp948=) c.2077T= (p.Trp693=) c.2671T= (p.Trp891=) c.2689T= (p.Trp897=) c.1120T= (p.Trp374=) c.1531T= (p.Trp511=) c.2632T= (p.Trp878=) c.2719T= (p.Trp907=) c.2650T= (p.Trp884=) c.2182T= (p.Trp728=) | |
| X | g.41520446A>C | CA412988695 | CASK | c.2704T>G (p.Trp902Gly) c.2701T>G (p.Trp901Gly) c.2755T>G (p.Trp919Gly) c.2653T>G (p.Trp885Gly) c.2758T>G (p.Trp920Gly) c.1375T>G (p.Trp459Gly) c.2686T>G (p.Trp896Gly) c.2617T>G (p.Trp873Gly) n.1534T>G n.914T>G c.554T>G c.2737T>G (p.Trp913Gly) c.2668T>G (p.Trp890Gly) c.2740T>G (p.Trp914Gly) n.2986T>G c.2842T>G (p.Trp948Gly) c.2077T>G (p.Trp693Gly) c.2671T>G (p.Trp891Gly) c.2689T>G (p.Trp897Gly) c.1120T>G (p.Trp374Gly) c.1531T>G (p.Trp511Gly) c.2632T>G (p.Trp878Gly) c.2719T>G (p.Trp907Gly) c.2650T>G (p.Trp884Gly) c.2182T>G (p.Trp728Gly) | |
| X | g.41520446A>G | CA121537 | CASK | c.2704T>C (p.Trp902Arg) c.2701T>C (p.Trp901Arg) c.2755T>C (p.Trp919Arg) c.2653T>C (p.Trp885Arg) c.2758T>C (p.Trp920Arg) c.1375T>C (p.Trp459Arg) c.2686T>C (p.Trp896Arg) c.2617T>C (p.Trp873Arg) n.1534T>C n.914T>C c.554T>C c.2737T>C (p.Trp913Arg) c.2668T>C (p.Trp890Arg) c.2740T>C (p.Trp914Arg) n.2986T>C c.2842T>C (p.Trp948Arg) c.2077T>C (p.Trp693Arg) c.2671T>C (p.Trp891Arg) c.2689T>C (p.Trp897Arg) c.1120T>C (p.Trp374Arg) c.1531T>C (p.Trp511Arg) c.2632T>C (p.Trp878Arg) c.2719T>C (p.Trp907Arg) c.2650T>C (p.Trp884Arg) c.2182T>C (p.Trp728Arg) | ClinVar dbSNP |
| X | g.41520446A>T | CA412988696 | CASK | c.2704T>A (p.Trp902Arg) c.2701T>A (p.Trp901Arg) c.2755T>A (p.Trp919Arg) c.2653T>A (p.Trp885Arg) c.2758T>A (p.Trp920Arg) c.1375T>A (p.Trp459Arg) c.2686T>A (p.Trp896Arg) c.2617T>A (p.Trp873Arg) n.1534T>A n.914T>A c.554T>A c.2737T>A (p.Trp913Arg) c.2668T>A (p.Trp890Arg) c.2740T>A (p.Trp914Arg) n.2986T>A c.2842T>A (p.Trp948Arg) c.2077T>A (p.Trp693Arg) c.2671T>A (p.Trp891Arg) c.2689T>A (p.Trp897Arg) c.1120T>A (p.Trp374Arg) c.1531T>A (p.Trp511Arg) c.2632T>A (p.Trp878Arg) c.2719T>A (p.Trp907Arg) c.2650T>A (p.Trp884Arg) c.2182T>A (p.Trp728Arg) | |
| X | g.41520447C>A | CA412988697 | CASK | c.2703G>T (p.Gln901His) c.2700G>T (p.Gln900His) c.2754G>T (p.Gln918His) c.2652G>T (p.Gln884His) c.2757G>T (p.Gln919His) c.1374G>T (p.Gln458His) c.2685G>T (p.Gln895His) c.2616G>T (p.Gln872His) n.1533G>T n.913G>T c.553G>T c.2736G>T (p.Gln912His) c.2667G>T (p.Gln889His) c.2739G>T (p.Gln913His) n.2985G>T c.2841G>T (p.Gln947His) c.2076G>T (p.Gln692His) c.2670G>T (p.Gln890His) c.2688G>T (p.Gln896His) c.1119G>T (p.Gln373His) c.1530G>T (p.Gln510His) c.2631G>T (p.Gln877His) c.2718G>T (p.Gln906His) c.2649G>T (p.Gln883His) c.2181G>T (p.Gln727His) | |
| X | g.41520447C>G | CA412988698 | CASK | c.2703G>C (p.Gln901His) c.2700G>C (p.Gln900His) c.2754G>C (p.Gln918His) c.2652G>C (p.Gln884His) c.2757G>C (p.Gln919His) c.1374G>C (p.Gln458His) c.2685G>C (p.Gln895His) c.2616G>C (p.Gln872His) n.1533G>C n.913G>C c.553G>C c.2736G>C (p.Gln912His) c.2667G>C (p.Gln889His) c.2739G>C (p.Gln913His) n.2985G>C c.2841G>C (p.Gln947His) c.2076G>C (p.Gln692His) c.2670G>C (p.Gln890His) c.2688G>C (p.Gln896His) c.1119G>C (p.Gln373His) c.1530G>C (p.Gln510His) c.2631G>C (p.Gln877His) c.2718G>C (p.Gln906His) c.2649G>C (p.Gln883His) c.2181G>C (p.Gln727His) | |
| X | g.41520447C>T | CA516098295 | CASK | c.2703G>A (p.Gln901=) c.2700G>A (p.Gln900=) c.2754G>A (p.Gln918=) c.2652G>A (p.Gln884=) c.2757G>A (p.Gln919=) c.1374G>A (p.Gln458=) c.2685G>A (p.Gln895=) c.2616G>A (p.Gln872=) n.1533G>A n.913G>A c.553G>A c.2736G>A (p.Gln912=) c.2667G>A (p.Gln889=) c.2739G>A (p.Gln913=) n.2985G>A c.2841G>A (p.Gln947=) c.2076G>A (p.Gln692=) c.2670G>A (p.Gln890=) c.2688G>A (p.Gln896=) c.1119G>A (p.Gln373=) c.1530G>A (p.Gln510=) c.2631G>A (p.Gln877=) c.2718G>A (p.Gln906=) c.2649G>A (p.Gln883=) c.2181G>A (p.Gln727=) | ClinVar gnomAD v4 |
| X | g.41520448T>A | CA412988699 | CASK | c.2702A>T (p.Gln901Leu) c.2699A>T (p.Gln900Leu) c.2753A>T (p.Gln918Leu) c.2651A>T (p.Gln884Leu) c.2756A>T (p.Gln919Leu) c.1373A>T (p.Gln458Leu) c.2684A>T (p.Gln895Leu) c.2615A>T (p.Gln872Leu) n.1532A>T n.912A>T c.552A>T c.2735A>T (p.Gln912Leu) c.2666A>T (p.Gln889Leu) c.2738A>T (p.Gln913Leu) n.2984A>T c.2840A>T (p.Gln947Leu) c.2075A>T (p.Gln692Leu) c.2669A>T (p.Gln890Leu) c.2687A>T (p.Gln896Leu) c.1118A>T (p.Gln373Leu) c.1529A>T (p.Gln510Leu) c.2630A>T (p.Gln877Leu) c.2717A>T (p.Gln906Leu) c.2648A>T (p.Gln883Leu) c.2180A>T (p.Gln727Leu) | |
| X | g.41520448T>C | CA412988700 | CASK | c.2702A>G (p.Gln901Arg) c.2699A>G (p.Gln900Arg) c.2753A>G (p.Gln918Arg) c.2651A>G (p.Gln884Arg) c.2756A>G (p.Gln919Arg) c.1373A>G (p.Gln458Arg) c.2684A>G (p.Gln895Arg) c.2615A>G (p.Gln872Arg) n.1532A>G n.912A>G c.552A>G c.2735A>G (p.Gln912Arg) c.2666A>G (p.Gln889Arg) c.2738A>G (p.Gln913Arg) n.2984A>G c.2840A>G (p.Gln947Arg) c.2075A>G (p.Gln692Arg) c.2669A>G (p.Gln890Arg) c.2687A>G (p.Gln896Arg) c.1118A>G (p.Gln373Arg) c.1529A>G (p.Gln510Arg) c.2630A>G (p.Gln877Arg) c.2717A>G (p.Gln906Arg) c.2648A>G (p.Gln883Arg) c.2180A>G (p.Gln727Arg) | |
| X | g.41520448T>G | CA412988701 | CASK | c.2702A>C (p.Gln901Pro) c.2699A>C (p.Gln900Pro) c.2753A>C (p.Gln918Pro) c.2651A>C (p.Gln884Pro) c.2756A>C (p.Gln919Pro) c.1373A>C (p.Gln458Pro) c.2684A>C (p.Gln895Pro) c.2615A>C (p.Gln872Pro) n.1532A>C n.912A>C c.552A>C c.2735A>C (p.Gln912Pro) c.2666A>C (p.Gln889Pro) c.2738A>C (p.Gln913Pro) n.2984A>C c.2840A>C (p.Gln947Pro) c.2075A>C (p.Gln692Pro) c.2669A>C (p.Gln890Pro) c.2687A>C (p.Gln896Pro) c.1118A>C (p.Gln373Pro) c.1529A>C (p.Gln510Pro) c.2630A>C (p.Gln877Pro) c.2717A>C (p.Gln906Pro) c.2648A>C (p.Gln883Pro) c.2180A>C (p.Gln727Pro) | |
| X | g.41520449G>A | CA412988702 | CASK | c.2701C>T (p.Gln901Ter) c.2698C>T (p.Gln900Ter) c.2752C>T (p.Gln918Ter) c.2650C>T (p.Gln884Ter) c.2755C>T (p.Gln919Ter) c.1372C>T (p.Gln458Ter) c.2683C>T (p.Gln895Ter) c.2614C>T (p.Gln872Ter) n.1531C>T n.911C>T c.551C>T c.2734C>T (p.Gln912Ter) c.2665C>T (p.Gln889Ter) c.2737C>T (p.Gln913Ter) n.2983C>T c.2839C>T (p.Gln947Ter) c.2074C>T (p.Gln692Ter) c.2668C>T (p.Gln890Ter) c.2686C>T (p.Gln896Ter) c.1117C>T (p.Gln373Ter) c.1528C>T (p.Gln510Ter) c.2629C>T (p.Gln877Ter) c.2716C>T (p.Gln906Ter) c.2647C>T (p.Gln883Ter) c.2179C>T (p.Gln727Ter) | |
| X | g.41520449G>C | CA412988703 | CASK | c.2701C>G (p.Gln901Glu) c.2698C>G (p.Gln900Glu) c.2752C>G (p.Gln918Glu) c.2650C>G (p.Gln884Glu) c.2755C>G (p.Gln919Glu) c.1372C>G (p.Gln458Glu) c.2683C>G (p.Gln895Glu) c.2614C>G (p.Gln872Glu) n.1531C>G n.911C>G c.551C>G c.2734C>G (p.Gln912Glu) c.2665C>G (p.Gln889Glu) c.2737C>G (p.Gln913Glu) n.2983C>G c.2839C>G (p.Gln947Glu) c.2074C>G (p.Gln692Glu) c.2668C>G (p.Gln890Glu) c.2686C>G (p.Gln896Glu) c.1117C>G (p.Gln373Glu) c.1528C>G (p.Gln510Glu) c.2629C>G (p.Gln877Glu) c.2716C>G (p.Gln906Glu) c.2647C>G (p.Gln883Glu) c.2179C>G (p.Gln727Glu) | |
| X | g.41520449G>T | CA412988704 | CASK | c.2701C>A (p.Gln901Lys) c.2698C>A (p.Gln900Lys) c.2752C>A (p.Gln918Lys) c.2650C>A (p.Gln884Lys) c.2755C>A (p.Gln919Lys) c.1372C>A (p.Gln458Lys) c.2683C>A (p.Gln895Lys) c.2614C>A (p.Gln872Lys) n.1531C>A n.911C>A c.551C>A c.2734C>A (p.Gln912Lys) c.2665C>A (p.Gln889Lys) c.2737C>A (p.Gln913Lys) n.2983C>A c.2839C>A (p.Gln947Lys) c.2074C>A (p.Gln692Lys) c.2668C>A (p.Gln890Lys) c.2686C>A (p.Gln896Lys) c.1117C>A (p.Gln373Lys) c.1528C>A (p.Gln510Lys) c.2629C>A (p.Gln877Lys) c.2716C>A (p.Gln906Lys) c.2647C>A (p.Gln883Lys) c.2179C>A (p.Gln727Lys) | |
| X | g.41520450T>A | CA516098296 | CASK | c.2700A>T (p.Pro900=) c.2697A>T (p.Pro899=) c.2751A>T (p.Pro917=) c.2649A>T (p.Pro883=) c.2754A>T (p.Pro918=) c.1371A>T (p.Pro457=) c.2682A>T (p.Pro894=) c.2613A>T (p.Pro871=) n.1530A>T n.910A>T c.550A>T c.2733A>T (p.Pro911=) c.2664A>T (p.Pro888=) c.2736A>T (p.Pro912=) n.2982A>T c.2838A>T (p.Pro946=) c.2073A>T (p.Pro691=) c.2667A>T (p.Pro889=) c.2685A>T (p.Pro895=) c.1116A>T (p.Pro372=) c.1527A>T (p.Pro509=) c.2628A>T (p.Pro876=) c.2715A>T (p.Pro905=) c.2646A>T (p.Pro882=) c.2178A>T (p.Pro726=) | |
| X | g.41520450T>C | CA516098298 | CASK | c.2700A>G (p.Pro900=) c.2697A>G (p.Pro899=) c.2751A>G (p.Pro917=) c.2649A>G (p.Pro883=) c.2754A>G (p.Pro918=) c.1371A>G (p.Pro457=) c.2682A>G (p.Pro894=) c.2613A>G (p.Pro871=) n.1530A>G n.910A>G c.550A>G c.2733A>G (p.Pro911=) c.2664A>G (p.Pro888=) c.2736A>G (p.Pro912=) n.2982A>G c.2838A>G (p.Pro946=) c.2073A>G (p.Pro691=) c.2667A>G (p.Pro889=) c.2685A>G (p.Pro895=) c.1116A>G (p.Pro372=) c.1527A>G (p.Pro509=) c.2628A>G (p.Pro876=) c.2715A>G (p.Pro905=) c.2646A>G (p.Pro882=) c.2178A>G (p.Pro726=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.41520450T>G | CA516098297 | CASK | c.2700A>C (p.Pro900=) c.2697A>C (p.Pro899=) c.2751A>C (p.Pro917=) c.2649A>C (p.Pro883=) c.2754A>C (p.Pro918=) c.1371A>C (p.Pro457=) c.2682A>C (p.Pro894=) c.2613A>C (p.Pro871=) n.1530A>C n.910A>C c.550A>C c.2733A>C (p.Pro911=) c.2664A>C (p.Pro888=) c.2736A>C (p.Pro912=) n.2982A>C c.2838A>C (p.Pro946=) c.2073A>C (p.Pro691=) c.2667A>C (p.Pro889=) c.2685A>C (p.Pro895=) c.1116A>C (p.Pro372=) c.1527A>C (p.Pro509=) c.2628A>C (p.Pro876=) c.2715A>C (p.Pro905=) c.2646A>C (p.Pro882=) c.2178A>C (p.Pro726=) | |
| X | g.41520450T= | CA2425944504 | CASK | c.2700A= (p.Pro900=) c.2697A= (p.Pro899=) c.2751A= (p.Pro917=) c.2649A= (p.Pro883=) c.2754A= (p.Pro918=) c.1371A= (p.Pro457=) c.2682A= (p.Pro894=) c.2613A= (p.Pro871=) n.1530A= n.910A= c.550A= c.2733A= (p.Pro911=) c.2664A= (p.Pro888=) c.2736A= (p.Pro912=) n.2982A= c.2838A= (p.Pro946=) c.2073A= (p.Pro691=) c.2667A= (p.Pro889=) c.2685A= (p.Pro895=) c.1116A= (p.Pro372=) c.1527A= (p.Pro509=) c.2628A= (p.Pro876=) c.2715A= (p.Pro905=) c.2646A= (p.Pro882=) c.2178A= (p.Pro726=) | |
| X | g.41520451G>A | CA412988705 | CASK | c.2699C>T (p.Pro900Leu) c.2696C>T (p.Pro899Leu) c.2750C>T (p.Pro917Leu) c.2648C>T (p.Pro883Leu) c.2753C>T (p.Pro918Leu) c.1370C>T (p.Pro457Leu) c.2681C>T (p.Pro894Leu) c.2612C>T (p.Pro871Leu) n.1529C>T n.909C>T c.549C>T c.2732C>T (p.Pro911Leu) c.2663C>T (p.Pro888Leu) c.2735C>T (p.Pro912Leu) n.2981C>T c.2837C>T (p.Pro946Leu) c.2072C>T (p.Pro691Leu) c.2666C>T (p.Pro889Leu) c.2684C>T (p.Pro895Leu) c.1115C>T (p.Pro372Leu) c.1526C>T (p.Pro509Leu) c.2627C>T (p.Pro876Leu) c.2714C>T (p.Pro905Leu) c.2645C>T (p.Pro882Leu) c.2177C>T (p.Pro726Leu) | |
| X | g.41520451G>C | CA412988706 | CASK | c.2699C>G (p.Pro900Arg) c.2696C>G (p.Pro899Arg) c.2750C>G (p.Pro917Arg) c.2648C>G (p.Pro883Arg) c.2753C>G (p.Pro918Arg) c.1370C>G (p.Pro457Arg) c.2681C>G (p.Pro894Arg) c.2612C>G (p.Pro871Arg) n.1529C>G n.909C>G c.549C>G c.2732C>G (p.Pro911Arg) c.2663C>G (p.Pro888Arg) c.2735C>G (p.Pro912Arg) n.2981C>G c.2837C>G (p.Pro946Arg) c.2072C>G (p.Pro691Arg) c.2666C>G (p.Pro889Arg) c.2684C>G (p.Pro895Arg) c.1115C>G (p.Pro372Arg) c.1526C>G (p.Pro509Arg) c.2627C>G (p.Pro876Arg) c.2714C>G (p.Pro905Arg) c.2645C>G (p.Pro882Arg) c.2177C>G (p.Pro726Arg) | |
| X | g.41520451G= | CA2425944505 | CASK | c.2699C= (p.Pro900=) c.2696C= (p.Pro899=) c.2750C= (p.Pro917=) c.2648C= (p.Pro883=) c.2753C= (p.Pro918=) c.1370C= (p.Pro457=) c.2681C= (p.Pro894=) c.2612C= (p.Pro871=) n.1529C= n.909C= c.549C= c.2732C= (p.Pro911=) c.2663C= (p.Pro888=) c.2735C= (p.Pro912=) n.2981C= c.2837C= (p.Pro946=) c.2072C= (p.Pro691=) c.2666C= (p.Pro889=) c.2684C= (p.Pro895=) c.1115C= (p.Pro372=) c.1526C= (p.Pro509=) c.2627C= (p.Pro876=) c.2714C= (p.Pro905=) c.2645C= (p.Pro882=) c.2177C= (p.Pro726=) | |
| X | g.41520451G>T | CA10389962 | CASK | c.2699C>A (p.Pro900Gln) c.2696C>A (p.Pro899Gln) c.2750C>A (p.Pro917Gln) c.2648C>A (p.Pro883Gln) c.2753C>A (p.Pro918Gln) c.1370C>A (p.Pro457Gln) c.2681C>A (p.Pro894Gln) c.2612C>A (p.Pro871Gln) n.1529C>A n.909C>A c.549C>A c.2732C>A (p.Pro911Gln) c.2663C>A (p.Pro888Gln) c.2735C>A (p.Pro912Gln) n.2981C>A c.2837C>A (p.Pro946Gln) c.2072C>A (p.Pro691Gln) c.2666C>A (p.Pro889Gln) c.2684C>A (p.Pro895Gln) c.1115C>A (p.Pro372Gln) c.1526C>A (p.Pro509Gln) c.2627C>A (p.Pro876Gln) c.2714C>A (p.Pro905Gln) c.2645C>A (p.Pro882Gln) c.2177C>A (p.Pro726Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.41520452G>A | CA412988707 | CASK | c.2698C>T (p.Pro900Ser) c.2695C>T (p.Pro899Ser) c.2749C>T (p.Pro917Ser) c.2647C>T (p.Pro883Ser) c.2752C>T (p.Pro918Ser) c.1369C>T (p.Pro457Ser) c.2680C>T (p.Pro894Ser) c.2611C>T (p.Pro871Ser) n.1528C>T n.908C>T c.548C>T c.2731C>T (p.Pro911Ser) c.2662C>T (p.Pro888Ser) c.2734C>T (p.Pro912Ser) n.2980C>T c.2836C>T (p.Pro946Ser) c.2071C>T (p.Pro691Ser) c.2665C>T (p.Pro889Ser) c.2683C>T (p.Pro895Ser) c.1114C>T (p.Pro372Ser) c.1525C>T (p.Pro509Ser) c.2626C>T (p.Pro876Ser) c.2713C>T (p.Pro905Ser) c.2644C>T (p.Pro882Ser) c.2176C>T (p.Pro726Ser) | |
| X | g.41520452G>C | CA412988708 | CASK | c.2698C>G (p.Pro900Ala) c.2695C>G (p.Pro899Ala) c.2749C>G (p.Pro917Ala) c.2647C>G (p.Pro883Ala) c.2752C>G (p.Pro918Ala) c.1369C>G (p.Pro457Ala) c.2680C>G (p.Pro894Ala) c.2611C>G (p.Pro871Ala) n.1528C>G n.908C>G c.548C>G c.2731C>G (p.Pro911Ala) c.2662C>G (p.Pro888Ala) c.2734C>G (p.Pro912Ala) n.2980C>G c.2836C>G (p.Pro946Ala) c.2071C>G (p.Pro691Ala) c.2665C>G (p.Pro889Ala) c.2683C>G (p.Pro895Ala) c.1114C>G (p.Pro372Ala) c.1525C>G (p.Pro509Ala) c.2626C>G (p.Pro876Ala) c.2713C>G (p.Pro905Ala) c.2644C>G (p.Pro882Ala) c.2176C>G (p.Pro726Ala) | |
| X | g.41520452G>T | CA412988709 | CASK | c.2698C>A (p.Pro900Thr) c.2695C>A (p.Pro899Thr) c.2749C>A (p.Pro917Thr) c.2647C>A (p.Pro883Thr) c.2752C>A (p.Pro918Thr) c.1369C>A (p.Pro457Thr) c.2680C>A (p.Pro894Thr) c.2611C>A (p.Pro871Thr) n.1528C>A n.908C>A c.548C>A c.2731C>A (p.Pro911Thr) c.2662C>A (p.Pro888Thr) c.2734C>A (p.Pro912Thr) n.2980C>A c.2836C>A (p.Pro946Thr) c.2071C>A (p.Pro691Thr) c.2665C>A (p.Pro889Thr) c.2683C>A (p.Pro895Thr) c.1114C>A (p.Pro372Thr) c.1525C>A (p.Pro509Thr) c.2626C>A (p.Pro876Thr) c.2713C>A (p.Pro905Thr) c.2644C>A (p.Pro882Thr) c.2176C>A (p.Pro726Thr) | |
| X | g.41520453G>A | CA516098299 | CASK | c.2697C>T (p.Ala899=) c.2694C>T (p.Ala898=) c.2748C>T (p.Ala916=) c.2646C>T (p.Ala882=) c.2751C>T (p.Ala917=) c.1368C>T (p.Ala456=) c.2679C>T (p.Ala893=) c.2610C>T (p.Ala870=) n.1527C>T n.907C>T c.547C>T c.2730C>T (p.Ala910=) c.2661C>T (p.Ala887=) c.2733C>T (p.Ala911=) n.2979C>T c.2835C>T (p.Ala945=) c.2070C>T (p.Ala690=) c.2664C>T (p.Ala888=) c.2682C>T (p.Ala894=) c.1113C>T (p.Ala371=) c.1524C>T (p.Ala508=) c.2625C>T (p.Ala875=) c.2712C>T (p.Ala904=) c.2643C>T (p.Ala881=) c.2175C>T (p.Ala725=) | |
| X | g.41520453G>C | CA516098300 | CASK | c.2697C>G (p.Ala899=) c.2694C>G (p.Ala898=) c.2748C>G (p.Ala916=) c.2646C>G (p.Ala882=) c.2751C>G (p.Ala917=) c.1368C>G (p.Ala456=) c.2679C>G (p.Ala893=) c.2610C>G (p.Ala870=) n.1527C>G n.907C>G c.547C>G c.2730C>G (p.Ala910=) c.2661C>G (p.Ala887=) c.2733C>G (p.Ala911=) n.2979C>G c.2835C>G (p.Ala945=) c.2070C>G (p.Ala690=) c.2664C>G (p.Ala888=) c.2682C>G (p.Ala894=) c.1113C>G (p.Ala371=) c.1524C>G (p.Ala508=) c.2625C>G (p.Ala875=) c.2712C>G (p.Ala904=) c.2643C>G (p.Ala881=) c.2175C>G (p.Ala725=) | |
| X | g.41520453G>T | CA516098301 | CASK | c.2697C>A (p.Ala899=) c.2694C>A (p.Ala898=) c.2748C>A (p.Ala916=) c.2646C>A (p.Ala882=) c.2751C>A (p.Ala917=) c.1368C>A (p.Ala456=) c.2679C>A (p.Ala893=) c.2610C>A (p.Ala870=) n.1527C>A n.907C>A c.547C>A c.2730C>A (p.Ala910=) c.2661C>A (p.Ala887=) c.2733C>A (p.Ala911=) n.2979C>A c.2835C>A (p.Ala945=) c.2070C>A (p.Ala690=) c.2664C>A (p.Ala888=) c.2682C>A (p.Ala894=) c.1113C>A (p.Ala371=) c.1524C>A (p.Ala508=) c.2625C>A (p.Ala875=) c.2712C>A (p.Ala904=) c.2643C>A (p.Ala881=) c.2175C>A (p.Ala725=) | |
| X | g.41520454G>A | CA412988710 | CASK | c.2696C>T (p.Ala899Val) c.2693C>T (p.Ala898Val) c.2747C>T (p.Ala916Val) c.2645C>T (p.Ala882Val) c.2750C>T (p.Ala917Val) c.1367C>T (p.Ala456Val) c.2678C>T (p.Ala893Val) c.2609C>T (p.Ala870Val) n.1526C>T n.906C>T c.546C>T c.2729C>T (p.Ala910Val) c.2660C>T (p.Ala887Val) c.2732C>T (p.Ala911Val) n.2978C>T c.2834C>T (p.Ala945Val) c.2069C>T (p.Ala690Val) c.2663C>T (p.Ala888Val) c.2681C>T (p.Ala894Val) c.1112C>T (p.Ala371Val) c.1523C>T (p.Ala508Val) c.2624C>T (p.Ala875Val) c.2711C>T (p.Ala904Val) c.2642C>T (p.Ala881Val) c.2174C>T (p.Ala725Val) | |
| X | g.41520454G>C | CA412988712 | CASK | c.2696C>G (p.Ala899Gly) c.2693C>G (p.Ala898Gly) c.2747C>G (p.Ala916Gly) c.2645C>G (p.Ala882Gly) c.2750C>G (p.Ala917Gly) c.1367C>G (p.Ala456Gly) c.2678C>G (p.Ala893Gly) c.2609C>G (p.Ala870Gly) n.1526C>G n.906C>G c.546C>G c.2729C>G (p.Ala910Gly) c.2660C>G (p.Ala887Gly) c.2732C>G (p.Ala911Gly) n.2978C>G c.2834C>G (p.Ala945Gly) c.2069C>G (p.Ala690Gly) c.2663C>G (p.Ala888Gly) c.2681C>G (p.Ala894Gly) c.1112C>G (p.Ala371Gly) c.1523C>G (p.Ala508Gly) c.2624C>G (p.Ala875Gly) c.2711C>G (p.Ala904Gly) c.2642C>G (p.Ala881Gly) c.2174C>G (p.Ala725Gly) | |
| X | g.41520454G>T | CA412988711 | CASK | c.2696C>A (p.Ala899Asp) c.2693C>A (p.Ala898Asp) c.2747C>A (p.Ala916Asp) c.2645C>A (p.Ala882Asp) c.2750C>A (p.Ala917Asp) c.1367C>A (p.Ala456Asp) c.2678C>A (p.Ala893Asp) c.2609C>A (p.Ala870Asp) n.1526C>A n.906C>A c.546C>A c.2729C>A (p.Ala910Asp) c.2660C>A (p.Ala887Asp) c.2732C>A (p.Ala911Asp) n.2978C>A c.2834C>A (p.Ala945Asp) c.2069C>A (p.Ala690Asp) c.2663C>A (p.Ala888Asp) c.2681C>A (p.Ala894Asp) c.1112C>A (p.Ala371Asp) c.1523C>A (p.Ala508Asp) c.2624C>A (p.Ala875Asp) c.2711C>A (p.Ala904Asp) c.2642C>A (p.Ala881Asp) c.2174C>A (p.Ala725Asp) | |
| X | g.41520455C>A | CA412988713 | CASK | c.2695G>T (p.Ala899Ser) c.2692G>T (p.Ala898Ser) c.2746G>T (p.Ala916Ser) c.2644G>T (p.Ala882Ser) c.2749G>T (p.Ala917Ser) c.1366G>T (p.Ala456Ser) c.2677G>T (p.Ala893Ser) c.2608G>T (p.Ala870Ser) n.1525G>T n.905G>T c.545G>T c.2728G>T (p.Ala910Ser) c.2659G>T (p.Ala887Ser) c.2731G>T (p.Ala911Ser) n.2977G>T c.2833G>T (p.Ala945Ser) c.2068G>T (p.Ala690Ser) c.2662G>T (p.Ala888Ser) c.2680G>T (p.Ala894Ser) c.1111G>T (p.Ala371Ser) c.1522G>T (p.Ala508Ser) c.2623G>T (p.Ala875Ser) c.2710G>T (p.Ala904Ser) c.2641G>T (p.Ala881Ser) c.2173G>T (p.Ala725Ser) | |
| X | g.41520455C>G | CA412988714 | CASK | c.2695G>C (p.Ala899Pro) c.2692G>C (p.Ala898Pro) c.2746G>C (p.Ala916Pro) c.2644G>C (p.Ala882Pro) c.2749G>C (p.Ala917Pro) c.1366G>C (p.Ala456Pro) c.2677G>C (p.Ala893Pro) c.2608G>C (p.Ala870Pro) n.1525G>C n.905G>C c.545G>C c.2728G>C (p.Ala910Pro) c.2659G>C (p.Ala887Pro) c.2731G>C (p.Ala911Pro) n.2977G>C c.2833G>C (p.Ala945Pro) c.2068G>C (p.Ala690Pro) c.2662G>C (p.Ala888Pro) c.2680G>C (p.Ala894Pro) c.1111G>C (p.Ala371Pro) c.1522G>C (p.Ala508Pro) c.2623G>C (p.Ala875Pro) c.2710G>C (p.Ala904Pro) c.2641G>C (p.Ala881Pro) c.2173G>C (p.Ala725Pro) | |
| X | g.41520455C>T | CA412988715 | CASK | c.2695G>A (p.Ala899Thr) c.2692G>A (p.Ala898Thr) c.2746G>A (p.Ala916Thr) c.2644G>A (p.Ala882Thr) c.2749G>A (p.Ala917Thr) c.1366G>A (p.Ala456Thr) c.2677G>A (p.Ala893Thr) c.2608G>A (p.Ala870Thr) n.1525G>A n.905G>A c.545G>A c.2728G>A (p.Ala910Thr) c.2659G>A (p.Ala887Thr) c.2731G>A (p.Ala911Thr) n.2977G>A c.2833G>A (p.Ala945Thr) c.2068G>A (p.Ala690Thr) c.2662G>A (p.Ala888Thr) c.2680G>A (p.Ala894Thr) c.1111G>A (p.Ala371Thr) c.1522G>A (p.Ala508Thr) c.2623G>A (p.Ala875Thr) c.2710G>A (p.Ala904Thr) c.2641G>A (p.Ala881Thr) c.2173G>A (p.Ala725Thr) | |
| X | g.41520456T>A | CA516098302 | CASK | c.2694A>T (p.Thr898=) c.2691A>T (p.Thr897=) c.2745A>T (p.Thr915=) c.2643A>T (p.Thr881=) c.2748A>T (p.Thr916=) c.1365A>T (p.Thr455=) c.2676A>T (p.Thr892=) c.2607A>T (p.Thr869=) n.1524A>T n.904A>T c.544A>T c.2727A>T (p.Thr909=) c.2658A>T (p.Thr886=) c.2730A>T (p.Thr910=) n.2976A>T c.2832A>T (p.Thr944=) c.2067A>T (p.Thr689=) c.2661A>T (p.Thr887=) c.2679A>T (p.Thr893=) c.1110A>T (p.Thr370=) c.1521A>T (p.Thr507=) c.2622A>T (p.Thr874=) c.2709A>T (p.Thr903=) c.2640A>T (p.Thr880=) c.2172A>T (p.Thr724=) | |
| X | g.41520456T>C | CA516098303 | CASK | c.2694A>G (p.Thr898=) c.2691A>G (p.Thr897=) c.2745A>G (p.Thr915=) c.2643A>G (p.Thr881=) c.2748A>G (p.Thr916=) c.1365A>G (p.Thr455=) c.2676A>G (p.Thr892=) c.2607A>G (p.Thr869=) n.1524A>G n.904A>G c.544A>G c.2727A>G (p.Thr909=) c.2658A>G (p.Thr886=) c.2730A>G (p.Thr910=) n.2976A>G c.2832A>G (p.Thr944=) c.2067A>G (p.Thr689=) c.2661A>G (p.Thr887=) c.2679A>G (p.Thr893=) c.1110A>G (p.Thr370=) c.1521A>G (p.Thr507=) c.2622A>G (p.Thr874=) c.2709A>G (p.Thr903=) c.2640A>G (p.Thr880=) c.2172A>G (p.Thr724=) | |
| X | g.41520456T>G | CA516098304 | CASK | c.2694A>C (p.Thr898=) c.2691A>C (p.Thr897=) c.2745A>C (p.Thr915=) c.2643A>C (p.Thr881=) c.2748A>C (p.Thr916=) c.1365A>C (p.Thr455=) c.2676A>C (p.Thr892=) c.2607A>C (p.Thr869=) n.1524A>C n.904A>C c.544A>C c.2727A>C (p.Thr909=) c.2658A>C (p.Thr886=) c.2730A>C (p.Thr910=) n.2976A>C c.2832A>C (p.Thr944=) c.2067A>C (p.Thr689=) c.2661A>C (p.Thr887=) c.2679A>C (p.Thr893=) c.1110A>C (p.Thr370=) c.1521A>C (p.Thr507=) c.2622A>C (p.Thr874=) c.2709A>C (p.Thr903=) c.2640A>C (p.Thr880=) c.2172A>C (p.Thr724=) | |
| X | g.41520457G>A | CA412988716 | CASK | c.2693C>T (p.Thr898Ile) c.2690C>T (p.Thr897Ile) c.2744C>T (p.Thr915Ile) c.2642C>T (p.Thr881Ile) c.2747C>T (p.Thr916Ile) c.1364C>T (p.Thr455Ile) c.2675C>T (p.Thr892Ile) c.2606C>T (p.Thr869Ile) n.1523C>T n.903C>T c.543C>T c.2726C>T (p.Thr909Ile) c.2657C>T (p.Thr886Ile) c.2729C>T (p.Thr910Ile) n.2975C>T c.2831C>T (p.Thr944Ile) c.2066C>T (p.Thr689Ile) c.2660C>T (p.Thr887Ile) c.2678C>T (p.Thr893Ile) c.1109C>T (p.Thr370Ile) c.1520C>T (p.Thr507Ile) c.2621C>T (p.Thr874Ile) c.2708C>T (p.Thr903Ile) c.2639C>T (p.Thr880Ile) c.2171C>T (p.Thr724Ile) | |
| X | g.41520457G>C | CA412988717 | CASK | c.2693C>G (p.Thr898Arg) c.2690C>G (p.Thr897Arg) c.2744C>G (p.Thr915Arg) c.2642C>G (p.Thr881Arg) c.2747C>G (p.Thr916Arg) c.1364C>G (p.Thr455Arg) c.2675C>G (p.Thr892Arg) c.2606C>G (p.Thr869Arg) n.1523C>G n.903C>G c.543C>G c.2726C>G (p.Thr909Arg) c.2657C>G (p.Thr886Arg) c.2729C>G (p.Thr910Arg) n.2975C>G c.2831C>G (p.Thr944Arg) c.2066C>G (p.Thr689Arg) c.2660C>G (p.Thr887Arg) c.2678C>G (p.Thr893Arg) c.1109C>G (p.Thr370Arg) c.1520C>G (p.Thr507Arg) c.2621C>G (p.Thr874Arg) c.2708C>G (p.Thr903Arg) c.2639C>G (p.Thr880Arg) c.2171C>G (p.Thr724Arg) | |
| X | g.41520457G>T | CA412988718 | CASK | c.2693C>A (p.Thr898Lys) c.2690C>A (p.Thr897Lys) c.2744C>A (p.Thr915Lys) c.2642C>A (p.Thr881Lys) c.2747C>A (p.Thr916Lys) c.1364C>A (p.Thr455Lys) c.2675C>A (p.Thr892Lys) c.2606C>A (p.Thr869Lys) n.1523C>A n.903C>A c.543C>A c.2726C>A (p.Thr909Lys) c.2657C>A (p.Thr886Lys) c.2729C>A (p.Thr910Lys) n.2975C>A c.2831C>A (p.Thr944Lys) c.2066C>A (p.Thr689Lys) c.2660C>A (p.Thr887Lys) c.2678C>A (p.Thr893Lys) c.1109C>A (p.Thr370Lys) c.1520C>A (p.Thr507Lys) c.2621C>A (p.Thr874Lys) c.2708C>A (p.Thr903Lys) c.2639C>A (p.Thr880Lys) c.2171C>A (p.Thr724Lys) | |
| X | g.41520458T>A | CA412988719 | CASK | c.2692A>T (p.Thr898Ser) c.2689A>T (p.Thr897Ser) c.2743A>T (p.Thr915Ser) c.2641A>T (p.Thr881Ser) c.2746A>T (p.Thr916Ser) c.1363A>T (p.Thr455Ser) c.2674A>T (p.Thr892Ser) c.2605A>T (p.Thr869Ser) n.1522A>T n.902A>T c.542A>T c.2725A>T (p.Thr909Ser) c.2656A>T (p.Thr886Ser) c.2728A>T (p.Thr910Ser) n.2974A>T c.2830A>T (p.Thr944Ser) c.2065A>T (p.Thr689Ser) c.2659A>T (p.Thr887Ser) c.2677A>T (p.Thr893Ser) c.1108A>T (p.Thr370Ser) c.1519A>T (p.Thr507Ser) c.2620A>T (p.Thr874Ser) c.2707A>T (p.Thr903Ser) c.2638A>T (p.Thr880Ser) c.2170A>T (p.Thr724Ser) | |
| X | g.41520458T>C | CA10389963 | CASK | c.2692A>G (p.Thr898Ala) c.2689A>G (p.Thr897Ala) c.2743A>G (p.Thr915Ala) c.2641A>G (p.Thr881Ala) c.2746A>G (p.Thr916Ala) c.1363A>G (p.Thr455Ala) c.2674A>G (p.Thr892Ala) c.2605A>G (p.Thr869Ala) n.1522A>G n.902A>G c.542A>G c.2725A>G (p.Thr909Ala) c.2656A>G (p.Thr886Ala) c.2728A>G (p.Thr910Ala) n.2974A>G c.2830A>G (p.Thr944Ala) c.2065A>G (p.Thr689Ala) c.2659A>G (p.Thr887Ala) c.2677A>G (p.Thr893Ala) c.1108A>G (p.Thr370Ala) c.1519A>G (p.Thr507Ala) c.2620A>G (p.Thr874Ala) c.2707A>G (p.Thr903Ala) c.2638A>G (p.Thr880Ala) c.2170A>G (p.Thr724Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.41520458T>G | CA412988720 | CASK | c.2692A>C (p.Thr898Pro) c.2689A>C (p.Thr897Pro) c.2743A>C (p.Thr915Pro) c.2641A>C (p.Thr881Pro) c.2746A>C (p.Thr916Pro) c.1363A>C (p.Thr455Pro) c.2674A>C (p.Thr892Pro) c.2605A>C (p.Thr869Pro) n.1522A>C n.902A>C c.542A>C c.2725A>C (p.Thr909Pro) c.2656A>C (p.Thr886Pro) c.2728A>C (p.Thr910Pro) n.2974A>C c.2830A>C (p.Thr944Pro) c.2065A>C (p.Thr689Pro) c.2659A>C (p.Thr887Pro) c.2677A>C (p.Thr893Pro) c.1108A>C (p.Thr370Pro) c.1519A>C (p.Thr507Pro) c.2620A>C (p.Thr874Pro) c.2707A>C (p.Thr903Pro) c.2638A>C (p.Thr880Pro) c.2170A>C (p.Thr724Pro) | |
| X | g.41520458T= | CA2425944506 | CASK | c.2692A= (p.Thr898=) c.2689A= (p.Thr897=) c.2743A= (p.Thr915=) c.2641A= (p.Thr881=) c.2746A= (p.Thr916=) c.1363A= (p.Thr455=) c.2674A= (p.Thr892=) c.2605A= (p.Thr869=) n.1522A= n.902A= c.542A= c.2725A= (p.Thr909=) c.2656A= (p.Thr886=) c.2728A= (p.Thr910=) n.2974A= c.2830A= (p.Thr944=) c.2065A= (p.Thr689=) c.2659A= (p.Thr887=) c.2677A= (p.Thr893=) c.1108A= (p.Thr370=) c.1519A= (p.Thr507=) c.2620A= (p.Thr874=) c.2707A= (p.Thr903=) c.2638A= (p.Thr880=) c.2170A= (p.Thr724=) | |
| X | g.41520459G>A | CA516098305 | CASK | c.2691C>T (p.Cys897=) c.2688C>T (p.Cys896=) c.2742C>T (p.Cys914=) c.2640C>T (p.Cys880=) c.2745C>T (p.Cys915=) c.1362C>T (p.Cys454=) c.2673C>T (p.Cys891=) c.2604C>T (p.Cys868=) n.1521C>T n.901C>T c.541C>T c.2724C>T (p.Cys908=) c.2655C>T (p.Cys885=) c.2727C>T (p.Cys909=) n.2973C>T c.2829C>T (p.Cys943=) c.2064C>T (p.Cys688=) c.2658C>T (p.Cys886=) c.2676C>T (p.Cys892=) c.1107C>T (p.Cys369=) c.1518C>T (p.Cys506=) c.2619C>T (p.Cys873=) c.2706C>T (p.Cys902=) c.2637C>T (p.Cys879=) c.2169C>T (p.Cys723=) | gnomAD v4 |
| X | g.41520459G>C | CA412988722 | CASK | c.2691C>G (p.Cys897Trp) c.2688C>G (p.Cys896Trp) c.2742C>G (p.Cys914Trp) c.2640C>G (p.Cys880Trp) c.2745C>G (p.Cys915Trp) c.1362C>G (p.Cys454Trp) c.2673C>G (p.Cys891Trp) c.2604C>G (p.Cys868Trp) n.1521C>G n.901C>G c.541C>G c.2724C>G (p.Cys908Trp) c.2655C>G (p.Cys885Trp) c.2727C>G (p.Cys909Trp) n.2973C>G c.2829C>G (p.Cys943Trp) c.2064C>G (p.Cys688Trp) c.2658C>G (p.Cys886Trp) c.2676C>G (p.Cys892Trp) c.1107C>G (p.Cys369Trp) c.1518C>G (p.Cys506Trp) c.2619C>G (p.Cys873Trp) c.2706C>G (p.Cys902Trp) c.2637C>G (p.Cys879Trp) c.2169C>G (p.Cys723Trp) | |
| X | g.41520459G>T | CA412988721 | CASK | c.2691C>A (p.Cys897Ter) c.2688C>A (p.Cys896Ter) c.2742C>A (p.Cys914Ter) c.2640C>A (p.Cys880Ter) c.2745C>A (p.Cys915Ter) c.1362C>A (p.Cys454Ter) c.2673C>A (p.Cys891Ter) c.2604C>A (p.Cys868Ter) n.1521C>A n.901C>A c.541C>A c.2724C>A (p.Cys908Ter) c.2655C>A (p.Cys885Ter) c.2727C>A (p.Cys909Ter) n.2973C>A c.2829C>A (p.Cys943Ter) c.2064C>A (p.Cys688Ter) c.2658C>A (p.Cys886Ter) c.2676C>A (p.Cys892Ter) c.1107C>A (p.Cys369Ter) c.1518C>A (p.Cys506Ter) c.2619C>A (p.Cys873Ter) c.2706C>A (p.Cys902Ter) c.2637C>A (p.Cys879Ter) c.2169C>A (p.Cys723Ter) | |
| X | g.41520460C>A | CA412988723 | CASK | c.2690G>T (p.Cys897Phe) c.2687G>T (p.Cys896Phe) c.2741G>T (p.Cys914Phe) c.2639G>T (p.Cys880Phe) c.2744G>T (p.Cys915Phe) c.1361G>T (p.Cys454Phe) c.2672G>T (p.Cys891Phe) c.2603G>T (p.Cys868Phe) n.1520G>T n.900G>T c.540G>T c.2723G>T (p.Cys908Phe) c.2654G>T (p.Cys885Phe) c.2726G>T (p.Cys909Phe) n.2972G>T c.2828G>T (p.Cys943Phe) c.2063G>T (p.Cys688Phe) c.2657G>T (p.Cys886Phe) c.2675G>T (p.Cys892Phe) c.1106G>T (p.Cys369Phe) c.1517G>T (p.Cys506Phe) c.2618G>T (p.Cys873Phe) c.2705G>T (p.Cys902Phe) c.2636G>T (p.Cys879Phe) c.2168G>T (p.Cys723Phe) | gnomAD v4 |
| X | g.41520460C>G | CA412988724 | CASK | c.2690G>C (p.Cys897Ser) c.2687G>C (p.Cys896Ser) c.2741G>C (p.Cys914Ser) c.2639G>C (p.Cys880Ser) c.2744G>C (p.Cys915Ser) c.1361G>C (p.Cys454Ser) c.2672G>C (p.Cys891Ser) c.2603G>C (p.Cys868Ser) n.1520G>C n.900G>C c.540G>C c.2723G>C (p.Cys908Ser) c.2654G>C (p.Cys885Ser) c.2726G>C (p.Cys909Ser) n.2972G>C c.2828G>C (p.Cys943Ser) c.2063G>C (p.Cys688Ser) c.2657G>C (p.Cys886Ser) c.2675G>C (p.Cys892Ser) c.1106G>C (p.Cys369Ser) c.1517G>C (p.Cys506Ser) c.2618G>C (p.Cys873Ser) c.2705G>C (p.Cys902Ser) c.2636G>C (p.Cys879Ser) c.2168G>C (p.Cys723Ser) | |
| X | g.41520460C>T | CA412988725 | CASK | c.2690G>A (p.Cys897Tyr) c.2687G>A (p.Cys896Tyr) c.2741G>A (p.Cys914Tyr) c.2639G>A (p.Cys880Tyr) c.2744G>A (p.Cys915Tyr) c.1361G>A (p.Cys454Tyr) c.2672G>A (p.Cys891Tyr) c.2603G>A (p.Cys868Tyr) n.1520G>A n.900G>A c.540G>A c.2723G>A (p.Cys908Tyr) c.2654G>A (p.Cys885Tyr) c.2726G>A (p.Cys909Tyr) n.2972G>A c.2828G>A (p.Cys943Tyr) c.2063G>A (p.Cys688Tyr) c.2657G>A (p.Cys886Tyr) c.2675G>A (p.Cys892Tyr) c.1106G>A (p.Cys369Tyr) c.1517G>A (p.Cys506Tyr) c.2618G>A (p.Cys873Tyr) c.2705G>A (p.Cys902Tyr) c.2636G>A (p.Cys879Tyr) c.2168G>A (p.Cys723Tyr) | ClinVar |
| X | g.41520461A>C | CA412988726 | CASK | c.2689T>G (p.Cys897Gly) c.2686T>G (p.Cys896Gly) c.2740T>G (p.Cys914Gly) c.2638T>G (p.Cys880Gly) c.2743T>G (p.Cys915Gly) c.1360T>G (p.Cys454Gly) c.2671T>G (p.Cys891Gly) c.2602T>G (p.Cys868Gly) n.1519T>G n.899T>G c.539T>G c.2722T>G (p.Cys908Gly) c.2653T>G (p.Cys885Gly) c.2725T>G (p.Cys909Gly) n.2971T>G c.2827T>G (p.Cys943Gly) c.2062T>G (p.Cys688Gly) c.2656T>G (p.Cys886Gly) c.2674T>G (p.Cys892Gly) c.1105T>G (p.Cys369Gly) c.1516T>G (p.Cys506Gly) c.2617T>G (p.Cys873Gly) c.2704T>G (p.Cys902Gly) c.2635T>G (p.Cys879Gly) c.2167T>G (p.Cys723Gly) |