Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.239082174G>A | CA2199321 | HDAC4 | n.594C>T c.2580C>T (p.Pro860=) c.2565C>T (p.Pro855=) n.472C>T c.2229C>T (p.Pro743=) c.2637C>T (p.Pro879=) c.2499C>T (p.Pro833=) c.2652C>T (p.Pro884=) c.2622C>T (p.Pro874=) c.2583C>T (p.Pro861=) c.2550C>T (p.Pro850=) c.2508C>T (p.Pro836=) c.2436C>T (p.Pro812=) c.1332C>T (p.Pro444=) c.2520C>T (p.Pro840=) c.2064C>T (p.Pro688=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.239082174G>C | CA431978536 | HDAC4 | n.594C>G c.2580C>G (p.Pro860=) c.2565C>G (p.Pro855=) n.472C>G c.2229C>G (p.Pro743=) c.2637C>G (p.Pro879=) c.2499C>G (p.Pro833=) c.2652C>G (p.Pro884=) c.2622C>G (p.Pro874=) c.2583C>G (p.Pro861=) c.2550C>G (p.Pro850=) c.2508C>G (p.Pro836=) c.2436C>G (p.Pro812=) c.1332C>G (p.Pro444=) c.2520C>G (p.Pro840=) c.2064C>G (p.Pro688=) | |
2 | g.239082174G= | CA1338435896 | HDAC4 | n.594C= c.2580C= (p.Pro860=) c.2565C= (p.Pro855=) n.472C= c.2229C= (p.Pro743=) c.2637C= (p.Pro879=) c.2499C= (p.Pro833=) c.2652C= (p.Pro884=) c.2622C= (p.Pro874=) c.2583C= (p.Pro861=) c.2550C= (p.Pro850=) c.2508C= (p.Pro836=) c.2436C= (p.Pro812=) c.1332C= (p.Pro444=) c.2520C= (p.Pro840=) c.2064C= (p.Pro688=) | |
2 | g.239082174G>T | CA431978538 | HDAC4 | n.594C>A c.2580C>A (p.Pro860=) c.2565C>A (p.Pro855=) n.472C>A c.2229C>A (p.Pro743=) c.2637C>A (p.Pro879=) c.2499C>A (p.Pro833=) c.2652C>A (p.Pro884=) c.2622C>A (p.Pro874=) c.2583C>A (p.Pro861=) c.2550C>A (p.Pro850=) c.2508C>A (p.Pro836=) c.2436C>A (p.Pro812=) c.1332C>A (p.Pro444=) c.2520C>A (p.Pro840=) c.2064C>A (p.Pro688=) | dbSNP gnomAD v4 |
2 | g.239082177del | CA2739278766 | HDAC4 | n.594del c.2580del (p.Ser861AlafsTer?) c.2565del (p.Ser856AlafsTer?) n.472del c.2229del (p.Ser744AlafsTer?) c.2637del (p.Ser880AlafsTer?) c.2499del (p.Ser834AlafsTer?) c.2652del (p.Ser885AlafsTer?) c.2622del (p.Ser875AlafsTer?) c.2583del (p.Ser862AlafsTer?) c.2550del (p.Ser851AlafsTer?) c.2508del (p.Ser837AlafsTer?) c.2436del (p.Ser813AlafsTer?) c.1332del (p.Ser445AlafsTer?) c.2520del (p.Ser841AlafsTer?) c.2064del (p.Ser689AlafsTer?) | ClinVar |
2 | g.239082175G>A | CA2199322 | HDAC4 | n.593C>T c.2579C>T (p.Pro860Leu) c.2564C>T (p.Pro855Leu) n.471C>T c.2228C>T (p.Pro743Leu) c.2636C>T (p.Pro879Leu) c.2498C>T (p.Pro833Leu) c.2651C>T (p.Pro884Leu) c.2621C>T (p.Pro874Leu) c.2582C>T (p.Pro861Leu) c.2549C>T (p.Pro850Leu) c.2507C>T (p.Pro836Leu) c.2435C>T (p.Pro812Leu) c.1331C>T (p.Pro444Leu) c.2519C>T (p.Pro840Leu) c.2063C>T (p.Pro688Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.239082175G>C | CA351261053 | HDAC4 | n.593C>G c.2579C>G (p.Pro860Arg) c.2564C>G (p.Pro855Arg) n.471C>G c.2228C>G (p.Pro743Arg) c.2636C>G (p.Pro879Arg) c.2498C>G (p.Pro833Arg) c.2651C>G (p.Pro884Arg) c.2621C>G (p.Pro874Arg) c.2582C>G (p.Pro861Arg) c.2549C>G (p.Pro850Arg) c.2507C>G (p.Pro836Arg) c.2435C>G (p.Pro812Arg) c.1331C>G (p.Pro444Arg) c.2519C>G (p.Pro840Arg) c.2063C>G (p.Pro688Arg) | |
2 | g.239082175G= | CA1338435897 | HDAC4 | n.593C= c.2579C= (p.Pro860=) c.2564C= (p.Pro855=) n.471C= c.2228C= (p.Pro743=) c.2636C= (p.Pro879=) c.2498C= (p.Pro833=) c.2651C= (p.Pro884=) c.2621C= (p.Pro874=) c.2582C= (p.Pro861=) c.2549C= (p.Pro850=) c.2507C= (p.Pro836=) c.2435C= (p.Pro812=) c.1331C= (p.Pro444=) c.2519C= (p.Pro840=) c.2063C= (p.Pro688=) | |
2 | g.239082175G>T | CA351261050 | HDAC4 | n.593C>A c.2579C>A (p.Pro860His) c.2564C>A (p.Pro855His) n.471C>A c.2228C>A (p.Pro743His) c.2636C>A (p.Pro879His) c.2498C>A (p.Pro833His) c.2651C>A (p.Pro884His) c.2621C>A (p.Pro874His) c.2582C>A (p.Pro861His) c.2549C>A (p.Pro850His) c.2507C>A (p.Pro836His) c.2435C>A (p.Pro812His) c.1331C>A (p.Pro444His) c.2519C>A (p.Pro840His) c.2063C>A (p.Pro688His) | |
2 | g.239082176G>A | CA2199323 | HDAC4 | n.592C>T c.2578C>T (p.Pro860Ser) c.2563C>T (p.Pro855Ser) n.470C>T c.2227C>T (p.Pro743Ser) c.2635C>T (p.Pro879Ser) c.2497C>T (p.Pro833Ser) c.2650C>T (p.Pro884Ser) c.2620C>T (p.Pro874Ser) c.2581C>T (p.Pro861Ser) c.2548C>T (p.Pro850Ser) c.2506C>T (p.Pro836Ser) c.2434C>T (p.Pro812Ser) c.1330C>T (p.Pro444Ser) c.2518C>T (p.Pro840Ser) c.2062C>T (p.Pro688Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.239082176G>C | CA351261055 | HDAC4 | n.592C>G c.2578C>G (p.Pro860Ala) c.2563C>G (p.Pro855Ala) n.470C>G c.2227C>G (p.Pro743Ala) c.2635C>G (p.Pro879Ala) c.2497C>G (p.Pro833Ala) c.2650C>G (p.Pro884Ala) c.2620C>G (p.Pro874Ala) c.2581C>G (p.Pro861Ala) c.2548C>G (p.Pro850Ala) c.2506C>G (p.Pro836Ala) c.2434C>G (p.Pro812Ala) c.1330C>G (p.Pro444Ala) c.2518C>G (p.Pro840Ala) c.2062C>G (p.Pro688Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.239082176G= | CA1338435898 | HDAC4 | n.592C= c.2578C= (p.Pro860=) c.2563C= (p.Pro855=) n.470C= c.2227C= (p.Pro743=) c.2635C= (p.Pro879=) c.2497C= (p.Pro833=) c.2650C= (p.Pro884=) c.2620C= (p.Pro874=) c.2581C= (p.Pro861=) c.2548C= (p.Pro850=) c.2506C= (p.Pro836=) c.2434C= (p.Pro812=) c.1330C= (p.Pro444=) c.2518C= (p.Pro840=) c.2062C= (p.Pro688=) | |
2 | g.239082176G>T | CA351261058 | HDAC4 | n.592C>A c.2578C>A (p.Pro860Thr) c.2563C>A (p.Pro855Thr) n.470C>A c.2227C>A (p.Pro743Thr) c.2635C>A (p.Pro879Thr) c.2497C>A (p.Pro833Thr) c.2650C>A (p.Pro884Thr) c.2620C>A (p.Pro874Thr) c.2581C>A (p.Pro861Thr) c.2548C>A (p.Pro850Thr) c.2506C>A (p.Pro836Thr) c.2434C>A (p.Pro812Thr) c.1330C>A (p.Pro444Thr) c.2518C>A (p.Pro840Thr) c.2062C>A (p.Pro688Thr) | |
2 | g.239082177G>A | CA2199324 | HDAC4 | n.591C>T c.2577C>T (p.Asp859=) c.2562C>T (p.Asp854=) n.469C>T c.2226C>T (p.Asp742=) c.2634C>T (p.Asp878=) c.2496C>T (p.Asp832=) c.2649C>T (p.Asp883=) c.2619C>T (p.Asp873=) c.2580C>T (p.Asp860=) c.2547C>T (p.Asp849=) c.2505C>T (p.Asp835=) c.2433C>T (p.Asp811=) c.1329C>T (p.Asp443=) c.2517C>T (p.Asp839=) c.2061C>T (p.Asp687=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.239082177G>C | CA351261060 | HDAC4 | n.591C>G c.2577C>G (p.Asp859Glu) c.2562C>G (p.Asp854Glu) n.469C>G c.2226C>G (p.Asp742Glu) c.2634C>G (p.Asp878Glu) c.2496C>G (p.Asp832Glu) c.2649C>G (p.Asp883Glu) c.2619C>G (p.Asp873Glu) c.2580C>G (p.Asp860Glu) c.2547C>G (p.Asp849Glu) c.2505C>G (p.Asp835Glu) c.2433C>G (p.Asp811Glu) c.1329C>G (p.Asp443Glu) c.2517C>G (p.Asp839Glu) c.2061C>G (p.Asp687Glu) | |
2 | g.239082177G= | CA1338435899 | HDAC4 | n.591C= c.2577C= (p.Asp859=) c.2562C= (p.Asp854=) n.469C= c.2226C= (p.Asp742=) c.2634C= (p.Asp878=) c.2496C= (p.Asp832=) c.2649C= (p.Asp883=) c.2619C= (p.Asp873=) c.2580C= (p.Asp860=) c.2547C= (p.Asp849=) c.2505C= (p.Asp835=) c.2433C= (p.Asp811=) c.1329C= (p.Asp443=) c.2517C= (p.Asp839=) c.2061C= (p.Asp687=) | |
2 | g.239082177G>T | CA351261061 | HDAC4 | n.591C>A c.2577C>A (p.Asp859Glu) c.2562C>A (p.Asp854Glu) n.469C>A c.2226C>A (p.Asp742Glu) c.2634C>A (p.Asp878Glu) c.2496C>A (p.Asp832Glu) c.2649C>A (p.Asp883Glu) c.2619C>A (p.Asp873Glu) c.2580C>A (p.Asp860Glu) c.2547C>A (p.Asp849Glu) c.2505C>A (p.Asp835Glu) c.2433C>A (p.Asp811Glu) c.1329C>A (p.Asp443Glu) c.2517C>A (p.Asp839Glu) c.2061C>A (p.Asp687Glu) | |
2 | g.239082178T>A | CA351261062 | HDAC4 | n.590A>T c.2576A>T (p.Asp859Val) c.2561A>T (p.Asp854Val) n.468A>T c.2225A>T (p.Asp742Val) c.2633A>T (p.Asp878Val) c.2495A>T (p.Asp832Val) c.2648A>T (p.Asp883Val) c.2618A>T (p.Asp873Val) c.2579A>T (p.Asp860Val) c.2546A>T (p.Asp849Val) c.2504A>T (p.Asp835Val) c.2432A>T (p.Asp811Val) c.1328A>T (p.Asp443Val) c.2516A>T (p.Asp839Val) c.2060A>T (p.Asp687Val) | |
2 | g.239082178T>C | CA351261063 | HDAC4 | n.590A>G c.2576A>G (p.Asp859Gly) c.2561A>G (p.Asp854Gly) n.468A>G c.2225A>G (p.Asp742Gly) c.2633A>G (p.Asp878Gly) c.2495A>G (p.Asp832Gly) c.2648A>G (p.Asp883Gly) c.2618A>G (p.Asp873Gly) c.2579A>G (p.Asp860Gly) c.2546A>G (p.Asp849Gly) c.2504A>G (p.Asp835Gly) c.2432A>G (p.Asp811Gly) c.1328A>G (p.Asp443Gly) c.2516A>G (p.Asp839Gly) c.2060A>G (p.Asp687Gly) | |
2 | g.239082178T>G | CA351261064 | HDAC4 | n.590A>C c.2576A>C (p.Asp859Ala) c.2561A>C (p.Asp854Ala) n.468A>C c.2225A>C (p.Asp742Ala) c.2633A>C (p.Asp878Ala) c.2495A>C (p.Asp832Ala) c.2648A>C (p.Asp883Ala) c.2618A>C (p.Asp873Ala) c.2579A>C (p.Asp860Ala) c.2546A>C (p.Asp849Ala) c.2504A>C (p.Asp835Ala) c.2432A>C (p.Asp811Ala) c.1328A>C (p.Asp443Ala) c.2516A>C (p.Asp839Ala) c.2060A>C (p.Asp687Ala) | dbSNP |
2 | g.239082178T= | CA1338435900 | HDAC4 | n.590A= c.2576A= (p.Asp859=) c.2561A= (p.Asp854=) n.468A= c.2225A= (p.Asp742=) c.2633A= (p.Asp878=) c.2495A= (p.Asp832=) c.2648A= (p.Asp883=) c.2618A= (p.Asp873=) c.2579A= (p.Asp860=) c.2546A= (p.Asp849=) c.2504A= (p.Asp835=) c.2432A= (p.Asp811=) c.1328A= (p.Asp443=) c.2516A= (p.Asp839=) c.2060A= (p.Asp687=) | |
2 | g.239082179C>A | CA351261065 | HDAC4 | n.589G>T c.2575G>T (p.Asp859Tyr) c.2560G>T (p.Asp854Tyr) n.467G>T c.2224G>T (p.Asp742Tyr) c.2632G>T (p.Asp878Tyr) c.2494G>T (p.Asp832Tyr) c.2647G>T (p.Asp883Tyr) c.2617G>T (p.Asp873Tyr) c.2578G>T (p.Asp860Tyr) c.2545G>T (p.Asp849Tyr) c.2503G>T (p.Asp835Tyr) c.2431G>T (p.Asp811Tyr) c.1327G>T (p.Asp443Tyr) c.2515G>T (p.Asp839Tyr) c.2059G>T (p.Asp687Tyr) | |
2 | g.239082179C= | CA1338435901 | HDAC4 | n.589G= c.2575G= (p.Asp859=) c.2560G= (p.Asp854=) n.467G= c.2224G= (p.Asp742=) c.2632G= (p.Asp878=) c.2494G= (p.Asp832=) c.2647G= (p.Asp883=) c.2617G= (p.Asp873=) c.2578G= (p.Asp860=) c.2545G= (p.Asp849=) c.2503G= (p.Asp835=) c.2431G= (p.Asp811=) c.1327G= (p.Asp443=) c.2515G= (p.Asp839=) c.2059G= (p.Asp687=) | |
2 | g.239082179C>G | CA351261066 | HDAC4 | n.589G>C c.2575G>C (p.Asp859His) c.2560G>C (p.Asp854His) n.467G>C c.2224G>C (p.Asp742His) c.2632G>C (p.Asp878His) c.2494G>C (p.Asp832His) c.2647G>C (p.Asp883His) c.2617G>C (p.Asp873His) c.2578G>C (p.Asp860His) c.2545G>C (p.Asp849His) c.2503G>C (p.Asp835His) c.2431G>C (p.Asp811His) c.1327G>C (p.Asp443His) c.2515G>C (p.Asp839His) c.2059G>C (p.Asp687His) | gnomAD v4 |
2 | g.239082179C>T | CA2199325 | HDAC4 | n.589G>A c.2575G>A (p.Asp859Asn) c.2560G>A (p.Asp854Asn) n.467G>A c.2224G>A (p.Asp742Asn) c.2632G>A (p.Asp878Asn) c.2494G>A (p.Asp832Asn) c.2647G>A (p.Asp883Asn) c.2617G>A (p.Asp873Asn) c.2578G>A (p.Asp860Asn) c.2545G>A (p.Asp849Asn) c.2503G>A (p.Asp835Asn) c.2431G>A (p.Asp811Asn) c.1327G>A (p.Asp443Asn) c.2515G>A (p.Asp839Asn) c.2059G>A (p.Asp687Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.239082180G>A | CA2199326 | HDAC4 | n.588C>T c.2574C>T (p.Ser858=) c.2559C>T (p.Ser853=) n.466C>T c.2223C>T (p.Ser741=) c.2631C>T (p.Ser877=) c.2493C>T (p.Ser831=) c.2646C>T (p.Ser882=) c.2616C>T (p.Ser872=) c.2577C>T (p.Ser859=) c.2544C>T (p.Ser848=) c.2502C>T (p.Ser834=) c.2430C>T (p.Ser810=) c.1326C>T (p.Ser442=) c.2514C>T (p.Ser838=) c.2058C>T (p.Ser686=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.239082180G>C | CA351261067 | HDAC4 | n.588C>G c.2574C>G (p.Ser858Arg) c.2559C>G (p.Ser853Arg) n.466C>G c.2223C>G (p.Ser741Arg) c.2631C>G (p.Ser877Arg) c.2493C>G (p.Ser831Arg) c.2646C>G (p.Ser882Arg) c.2616C>G (p.Ser872Arg) c.2577C>G (p.Ser859Arg) c.2544C>G (p.Ser848Arg) c.2502C>G (p.Ser834Arg) c.2430C>G (p.Ser810Arg) c.1326C>G (p.Ser442Arg) c.2514C>G (p.Ser838Arg) c.2058C>G (p.Ser686Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.239082180G= | CA1338435902 | HDAC4 | n.588C= c.2574C= (p.Ser858=) c.2559C= (p.Ser853=) n.466C= c.2223C= (p.Ser741=) c.2631C= (p.Ser877=) c.2493C= (p.Ser831=) c.2646C= (p.Ser882=) c.2616C= (p.Ser872=) c.2577C= (p.Ser859=) c.2544C= (p.Ser848=) c.2502C= (p.Ser834=) c.2430C= (p.Ser810=) c.1326C= (p.Ser442=) c.2514C= (p.Ser838=) c.2058C= (p.Ser686=) | |
2 | g.239082180G>T | CA351261068 | HDAC4 | n.588C>A c.2574C>A (p.Ser858Arg) c.2559C>A (p.Ser853Arg) n.466C>A c.2223C>A (p.Ser741Arg) c.2631C>A (p.Ser877Arg) c.2493C>A (p.Ser831Arg) c.2646C>A (p.Ser882Arg) c.2616C>A (p.Ser872Arg) c.2577C>A (p.Ser859Arg) c.2544C>A (p.Ser848Arg) c.2502C>A (p.Ser834Arg) c.2430C>A (p.Ser810Arg) c.1326C>A (p.Ser442Arg) c.2514C>A (p.Ser838Arg) c.2058C>A (p.Ser686Arg) | gnomAD v4 |
2 | g.239082181C>A | CA351261070 | HDAC4 | n.587G>T c.2573G>T (p.Ser858Ile) c.2558G>T (p.Ser853Ile) n.465G>T c.2222G>T (p.Ser741Ile) c.2630G>T (p.Ser877Ile) c.2492G>T (p.Ser831Ile) c.2645G>T (p.Ser882Ile) c.2615G>T (p.Ser872Ile) c.2576G>T (p.Ser859Ile) c.2543G>T (p.Ser848Ile) c.2501G>T (p.Ser834Ile) c.2429G>T (p.Ser810Ile) c.1325G>T (p.Ser442Ile) c.2513G>T (p.Ser838Ile) c.2057G>T (p.Ser686Ile) | |
2 | g.239082181C= | CA1338435903 | HDAC4 | n.587G= c.2573G= (p.Ser858=) c.2558G= (p.Ser853=) n.465G= c.2222G= (p.Ser741=) c.2630G= (p.Ser877=) c.2492G= (p.Ser831=) c.2645G= (p.Ser882=) c.2615G= (p.Ser872=) c.2576G= (p.Ser859=) c.2543G= (p.Ser848=) c.2501G= (p.Ser834=) c.2429G= (p.Ser810=) c.1325G= (p.Ser442=) c.2513G= (p.Ser838=) c.2057G= (p.Ser686=) | |
2 | g.239082181C>G | CA351261069 | HDAC4 | n.587G>C c.2573G>C (p.Ser858Thr) c.2558G>C (p.Ser853Thr) n.465G>C c.2222G>C (p.Ser741Thr) c.2630G>C (p.Ser877Thr) c.2492G>C (p.Ser831Thr) c.2645G>C (p.Ser882Thr) c.2615G>C (p.Ser872Thr) c.2576G>C (p.Ser859Thr) c.2543G>C (p.Ser848Thr) c.2501G>C (p.Ser834Thr) c.2429G>C (p.Ser810Thr) c.1325G>C (p.Ser442Thr) c.2513G>C (p.Ser838Thr) c.2057G>C (p.Ser686Thr) | |
2 | g.239082181C>T | CA2199327 | HDAC4 | n.587G>A c.2573G>A (p.Ser858Asn) c.2558G>A (p.Ser853Asn) n.465G>A c.2222G>A (p.Ser741Asn) c.2630G>A (p.Ser877Asn) c.2492G>A (p.Ser831Asn) c.2645G>A (p.Ser882Asn) c.2615G>A (p.Ser872Asn) c.2576G>A (p.Ser859Asn) c.2543G>A (p.Ser848Asn) c.2501G>A (p.Ser834Asn) c.2429G>A (p.Ser810Asn) c.1325G>A (p.Ser442Asn) c.2513G>A (p.Ser838Asn) c.2057G>A (p.Ser686Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.239082182T>A | CA351261071 | HDAC4 | n.586A>T c.2572A>T (p.Ser858Cys) c.2557A>T (p.Ser853Cys) n.464A>T c.2221A>T (p.Ser741Cys) c.2629A>T (p.Ser877Cys) c.2491A>T (p.Ser831Cys) c.2644A>T (p.Ser882Cys) c.2614A>T (p.Ser872Cys) c.2575A>T (p.Ser859Cys) c.2542A>T (p.Ser848Cys) c.2500A>T (p.Ser834Cys) c.2428A>T (p.Ser810Cys) c.1324A>T (p.Ser442Cys) c.2512A>T (p.Ser838Cys) c.2056A>T (p.Ser686Cys) | |
2 | g.239082182T>C | CA2199328 | HDAC4 | n.586A>G c.2572A>G (p.Ser858Gly) c.2557A>G (p.Ser853Gly) n.464A>G c.2221A>G (p.Ser741Gly) c.2629A>G (p.Ser877Gly) c.2491A>G (p.Ser831Gly) c.2644A>G (p.Ser882Gly) c.2614A>G (p.Ser872Gly) c.2575A>G (p.Ser859Gly) c.2542A>G (p.Ser848Gly) c.2500A>G (p.Ser834Gly) c.2428A>G (p.Ser810Gly) c.1324A>G (p.Ser442Gly) c.2512A>G (p.Ser838Gly) c.2056A>G (p.Ser686Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.239082182T>G | CA351261072 | HDAC4 | n.586A>C c.2572A>C (p.Ser858Arg) c.2557A>C (p.Ser853Arg) n.464A>C c.2221A>C (p.Ser741Arg) c.2629A>C (p.Ser877Arg) c.2491A>C (p.Ser831Arg) c.2644A>C (p.Ser882Arg) c.2614A>C (p.Ser872Arg) c.2575A>C (p.Ser859Arg) c.2542A>C (p.Ser848Arg) c.2500A>C (p.Ser834Arg) c.2428A>C (p.Ser810Arg) c.1324A>C (p.Ser442Arg) c.2512A>C (p.Ser838Arg) c.2056A>C (p.Ser686Arg) | |
2 | g.239082182T= | CA1338435904 | HDAC4 | n.586A= c.2572A= (p.Ser858=) c.2557A= (p.Ser853=) n.464A= c.2221A= (p.Ser741=) c.2629A= (p.Ser877=) c.2491A= (p.Ser831=) c.2644A= (p.Ser882=) c.2614A= (p.Ser872=) c.2575A= (p.Ser859=) c.2542A= (p.Ser848=) c.2500A= (p.Ser834=) c.2428A= (p.Ser810=) c.1324A= (p.Ser442=) c.2512A= (p.Ser838=) c.2056A= (p.Ser686=) | |
2 | g.239082183G>A | CA431978565 | HDAC4 | n.585C>T c.2571C>T (p.Tyr857=) c.2556C>T (p.Tyr852=) n.463C>T c.2220C>T (p.Tyr740=) c.2628C>T (p.Tyr876=) c.2490C>T (p.Tyr830=) c.2643C>T (p.Tyr881=) c.2613C>T (p.Tyr871=) c.2574C>T (p.Tyr858=) c.2541C>T (p.Tyr847=) c.2499C>T (p.Tyr833=) c.2427C>T (p.Tyr809=) c.1323C>T (p.Tyr441=) c.2511C>T (p.Tyr837=) c.2055C>T (p.Tyr685=) | gnomAD v4 |
2 | g.239082183G>C | CA351261073 | HDAC4 | n.585C>G c.2571C>G (p.Tyr857Ter) c.2556C>G (p.Tyr852Ter) n.463C>G c.2220C>G (p.Tyr740Ter) c.2628C>G (p.Tyr876Ter) c.2490C>G (p.Tyr830Ter) c.2643C>G (p.Tyr881Ter) c.2613C>G (p.Tyr871Ter) c.2574C>G (p.Tyr858Ter) c.2541C>G (p.Tyr847Ter) c.2499C>G (p.Tyr833Ter) c.2427C>G (p.Tyr809Ter) c.1323C>G (p.Tyr441Ter) c.2511C>G (p.Tyr837Ter) c.2055C>G (p.Tyr685Ter) | |
2 | g.239082183G>T | CA351261074 | HDAC4 | n.585C>A c.2571C>A (p.Tyr857Ter) c.2556C>A (p.Tyr852Ter) n.463C>A c.2220C>A (p.Tyr740Ter) c.2628C>A (p.Tyr876Ter) c.2490C>A (p.Tyr830Ter) c.2643C>A (p.Tyr881Ter) c.2613C>A (p.Tyr871Ter) c.2574C>A (p.Tyr858Ter) c.2541C>A (p.Tyr847Ter) c.2499C>A (p.Tyr833Ter) c.2427C>A (p.Tyr809Ter) c.1323C>A (p.Tyr441Ter) c.2511C>A (p.Tyr837Ter) c.2055C>A (p.Tyr685Ter) | |
2 | g.239082184T>A | CA351261075 | HDAC4 | n.584A>T c.2570A>T (p.Tyr857Phe) c.2555A>T (p.Tyr852Phe) n.462A>T c.2219A>T (p.Tyr740Phe) c.2627A>T (p.Tyr876Phe) c.2489A>T (p.Tyr830Phe) c.2642A>T (p.Tyr881Phe) c.2612A>T (p.Tyr871Phe) c.2573A>T (p.Tyr858Phe) c.2540A>T (p.Tyr847Phe) c.2498A>T (p.Tyr833Phe) c.2426A>T (p.Tyr809Phe) c.1322A>T (p.Tyr441Phe) c.2510A>T (p.Tyr837Phe) c.2054A>T (p.Tyr685Phe) | |
2 | g.239082184T>C | CA2199329 | HDAC4 | n.584A>G c.2570A>G (p.Tyr857Cys) c.2555A>G (p.Tyr852Cys) n.462A>G c.2219A>G (p.Tyr740Cys) c.2627A>G (p.Tyr876Cys) c.2489A>G (p.Tyr830Cys) c.2642A>G (p.Tyr881Cys) c.2612A>G (p.Tyr871Cys) c.2573A>G (p.Tyr858Cys) c.2540A>G (p.Tyr847Cys) c.2498A>G (p.Tyr833Cys) c.2426A>G (p.Tyr809Cys) c.1322A>G (p.Tyr441Cys) c.2510A>G (p.Tyr837Cys) c.2054A>G (p.Tyr685Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.239082184T>G | CA351261076 | HDAC4 | n.584A>C c.2570A>C (p.Tyr857Ser) c.2555A>C (p.Tyr852Ser) n.462A>C c.2219A>C (p.Tyr740Ser) c.2627A>C (p.Tyr876Ser) c.2489A>C (p.Tyr830Ser) c.2642A>C (p.Tyr881Ser) c.2612A>C (p.Tyr871Ser) c.2573A>C (p.Tyr858Ser) c.2540A>C (p.Tyr847Ser) c.2498A>C (p.Tyr833Ser) c.2426A>C (p.Tyr809Ser) c.1322A>C (p.Tyr441Ser) c.2510A>C (p.Tyr837Ser) c.2054A>C (p.Tyr685Ser) | dbSNP |
2 | g.239082184T= | CA1338435905 | HDAC4 | n.584A= c.2570A= (p.Tyr857=) c.2555A= (p.Tyr852=) n.462A= c.2219A= (p.Tyr740=) c.2627A= (p.Tyr876=) c.2489A= (p.Tyr830=) c.2642A= (p.Tyr881=) c.2612A= (p.Tyr871=) c.2573A= (p.Tyr858=) c.2540A= (p.Tyr847=) c.2498A= (p.Tyr833=) c.2426A= (p.Tyr809=) c.1322A= (p.Tyr441=) c.2510A= (p.Tyr837=) c.2054A= (p.Tyr685=) | |
2 | g.239082185A>C | CA351261077 | HDAC4 | n.583T>G c.2569T>G (p.Tyr857Asp) c.2554T>G (p.Tyr852Asp) n.461T>G c.2218T>G (p.Tyr740Asp) c.2626T>G (p.Tyr876Asp) c.2488T>G (p.Tyr830Asp) c.2641T>G (p.Tyr881Asp) c.2611T>G (p.Tyr871Asp) c.2572T>G (p.Tyr858Asp) c.2539T>G (p.Tyr847Asp) c.2497T>G (p.Tyr833Asp) c.2425T>G (p.Tyr809Asp) c.1321T>G (p.Tyr441Asp) c.2509T>G (p.Tyr837Asp) c.2053T>G (p.Tyr685Asp) | |
2 | g.239082185A>G | CA351261078 | HDAC4 | n.583T>C c.2569T>C (p.Tyr857His) c.2554T>C (p.Tyr852His) n.461T>C c.2218T>C (p.Tyr740His) c.2626T>C (p.Tyr876His) c.2488T>C (p.Tyr830His) c.2641T>C (p.Tyr881His) c.2611T>C (p.Tyr871His) c.2572T>C (p.Tyr858His) c.2539T>C (p.Tyr847His) c.2497T>C (p.Tyr833His) c.2425T>C (p.Tyr809His) c.1321T>C (p.Tyr441His) c.2509T>C (p.Tyr837His) c.2053T>C (p.Tyr685His) | |
2 | g.239082185A>T | CA351261079 | HDAC4 | n.583T>A c.2569T>A (p.Tyr857Asn) c.2554T>A (p.Tyr852Asn) n.461T>A c.2218T>A (p.Tyr740Asn) c.2626T>A (p.Tyr876Asn) c.2488T>A (p.Tyr830Asn) c.2641T>A (p.Tyr881Asn) c.2611T>A (p.Tyr871Asn) c.2572T>A (p.Tyr858Asn) c.2539T>A (p.Tyr847Asn) c.2497T>A (p.Tyr833Asn) c.2425T>A (p.Tyr809Asn) c.1321T>A (p.Tyr441Asn) c.2509T>A (p.Tyr837Asn) c.2053T>A (p.Tyr685Asn) | |
2 | g.239082186G>A | CA431978578 | HDAC4 | n.582C>T c.2568C>T (p.Phe856=) c.2553C>T (p.Phe851=) n.460C>T c.2217C>T (p.Phe739=) c.2625C>T (p.Phe875=) c.2487C>T (p.Phe829=) c.2640C>T (p.Phe880=) c.2610C>T (p.Phe870=) c.2571C>T (p.Phe857=) c.2538C>T (p.Phe846=) c.2496C>T (p.Phe832=) c.2424C>T (p.Phe808=) c.1320C>T (p.Phe440=) c.2508C>T (p.Phe836=) c.2052C>T (p.Phe684=) | gnomAD v4 |
2 | g.239082186G>C | CA351261081 | HDAC4 | n.582C>G c.2568C>G (p.Phe856Leu) c.2553C>G (p.Phe851Leu) n.460C>G c.2217C>G (p.Phe739Leu) c.2625C>G (p.Phe875Leu) c.2487C>G (p.Phe829Leu) c.2640C>G (p.Phe880Leu) c.2610C>G (p.Phe870Leu) c.2571C>G (p.Phe857Leu) c.2538C>G (p.Phe846Leu) c.2496C>G (p.Phe832Leu) c.2424C>G (p.Phe808Leu) c.1320C>G (p.Phe440Leu) c.2508C>G (p.Phe836Leu) c.2052C>G (p.Phe684Leu) | |
2 | g.239082186G>T | CA351261080 | HDAC4 | n.582C>A c.2568C>A (p.Phe856Leu) c.2553C>A (p.Phe851Leu) n.460C>A c.2217C>A (p.Phe739Leu) c.2625C>A (p.Phe875Leu) c.2487C>A (p.Phe829Leu) c.2640C>A (p.Phe880Leu) c.2610C>A (p.Phe870Leu) c.2571C>A (p.Phe857Leu) c.2538C>A (p.Phe846Leu) c.2496C>A (p.Phe832Leu) c.2424C>A (p.Phe808Leu) c.1320C>A (p.Phe440Leu) c.2508C>A (p.Phe836Leu) c.2052C>A (p.Phe684Leu) |