Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.22903703C= | CA2163977888 | CYFIP1 | c.2582+3G= (n.2582+3G=) c.2588+3G= (n.2588+3G=) c.1295+3G= (n.1295+3G=) n.1735+3G= c.2987+3G= (n.2987+3G=) c.2690+3G= (n.2690+3G=) c.908+3G= (n.908+3G=) c.2498+3G= (n.2498+3G=) c.2222+3G= (n.2222+3G=) c.2486+3G= (n.2486+3G=) c.2684+3G= (n.2684+3G=) c.3089+3G= (n.3089+3G=) | |
15 | g.22903703C>T | CA7425134 | CYFIP1 | c.2582+3G>A (n.2582+3G>A) c.2588+3G>A (n.2588+3G>A) c.1295+3G>A (n.1295+3G>A) n.1735+3G>A c.2987+3G>A (n.2987+3G>A) c.2690+3G>A (n.2690+3G>A) c.908+3G>A (n.908+3G>A) c.2498+3G>A (n.2498+3G>A) c.2222+3G>A (n.2222+3G>A) c.2486+3G>A (n.2486+3G>A) c.2684+3G>A (n.2684+3G>A) c.3089+3G>A (n.3089+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903704A>C | CA391334110 | CYFIP1 | c.2582+2T>G (n.2582+2T>G) c.2588+2T>G (n.2588+2T>G) c.1295+2T>G (n.1295+2T>G) n.1735+2T>G c.2987+2T>G (n.2987+2T>G) c.2690+2T>G (n.2690+2T>G) c.908+2T>G (n.908+2T>G) c.2498+2T>G (n.2498+2T>G) c.2222+2T>G (n.2222+2T>G) c.2486+2T>G (n.2486+2T>G) c.2684+2T>G (n.2684+2T>G) c.3089+2T>G (n.3089+2T>G) | |
15 | g.22903704A>G | CA391334112 | CYFIP1 | c.2582+2T>C (n.2582+2T>C) c.2588+2T>C (n.2588+2T>C) c.1295+2T>C (n.1295+2T>C) n.1735+2T>C c.2987+2T>C (n.2987+2T>C) c.2690+2T>C (n.2690+2T>C) c.908+2T>C (n.908+2T>C) c.2498+2T>C (n.2498+2T>C) c.2222+2T>C (n.2222+2T>C) c.2486+2T>C (n.2486+2T>C) c.2684+2T>C (n.2684+2T>C) c.3089+2T>C (n.3089+2T>C) | |
15 | g.22903704A>T | CA391334111 | CYFIP1 | c.2582+2T>A (n.2582+2T>A) c.2588+2T>A (n.2588+2T>A) c.1295+2T>A (n.1295+2T>A) n.1735+2T>A c.2987+2T>A (n.2987+2T>A) c.2690+2T>A (n.2690+2T>A) c.908+2T>A (n.908+2T>A) c.2498+2T>A (n.2498+2T>A) c.2222+2T>A (n.2222+2T>A) c.2486+2T>A (n.2486+2T>A) c.2684+2T>A (n.2684+2T>A) c.3089+2T>A (n.3089+2T>A) | |
15 | g.22903705C>A | CA391334113 | CYFIP1 | c.2582+1G>T (n.2582+1G>T) c.2588+1G>T (n.2588+1G>T) c.1295+1G>T (n.1295+1G>T) n.1735+1G>T c.2987+1G>T (n.2987+1G>T) c.2690+1G>T (n.2690+1G>T) c.908+1G>T (n.908+1G>T) c.2498+1G>T (n.2498+1G>T) c.2222+1G>T (n.2222+1G>T) c.2486+1G>T (n.2486+1G>T) c.2684+1G>T (n.2684+1G>T) c.3089+1G>T (n.3089+1G>T) | |
15 | g.22903705C>G | CA391334117 | CYFIP1 | c.2582+1G>C (n.2582+1G>C) c.2588+1G>C (n.2588+1G>C) c.1295+1G>C (n.1295+1G>C) n.1735+1G>C c.2987+1G>C (n.2987+1G>C) c.2690+1G>C (n.2690+1G>C) c.908+1G>C (n.908+1G>C) c.2498+1G>C (n.2498+1G>C) c.2222+1G>C (n.2222+1G>C) c.2486+1G>C (n.2486+1G>C) c.2684+1G>C (n.2684+1G>C) c.3089+1G>C (n.3089+1G>C) | |
15 | g.22903705C>T | CA391334115 | CYFIP1 | c.2582+1G>A (n.2582+1G>A) c.2588+1G>A (n.2588+1G>A) c.1295+1G>A (n.1295+1G>A) n.1735+1G>A c.2987+1G>A (n.2987+1G>A) c.2690+1G>A (n.2690+1G>A) c.908+1G>A (n.908+1G>A) c.2498+1G>A (n.2498+1G>A) c.2222+1G>A (n.2222+1G>A) c.2486+1G>A (n.2486+1G>A) c.2684+1G>A (n.2684+1G>A) c.3089+1G>A (n.3089+1G>A) | |
15 | g.22903706C>A | CA391334119 | CYFIP1 | c.2582G>T (p.Arg861Leu) c.2588G>T (p.Arg863Leu) c.1295G>T (p.Arg432Leu) n.1735G>T c.2987G>T (p.Arg996Leu) c.2690G>T (p.Arg897Leu) c.908G>T (p.Arg303Leu) c.2498G>T (p.Arg833Leu) c.2222G>T (p.Arg741Leu) c.2486G>T (p.Arg829Leu) c.2684G>T (p.Arg895Leu) c.3089G>T (p.Arg1030Leu) | gnomAD v4 |
15 | g.22903706C= | CA2163977891 | CYFIP1 | c.2582G= (p.Arg861=) c.2588G= (p.Arg863=) c.1295G= (p.Arg432=) n.1735G= c.2987G= (p.Arg996=) c.2690G= (p.Arg897=) c.908G= (p.Arg303=) c.2498G= (p.Arg833=) c.2222G= (p.Arg741=) c.2486G= (p.Arg829=) c.2684G= (p.Arg895=) c.3089G= (p.Arg1030=) | |
15 | g.22903706C>G | CA391334120 | CYFIP1 | c.2582G>C (p.Arg861Pro) c.2588G>C (p.Arg863Pro) c.1295G>C (p.Arg432Pro) n.1735G>C c.2987G>C (p.Arg996Pro) c.2690G>C (p.Arg897Pro) c.908G>C (p.Arg303Pro) c.2498G>C (p.Arg833Pro) c.2222G>C (p.Arg741Pro) c.2486G>C (p.Arg829Pro) c.2684G>C (p.Arg895Pro) c.3089G>C (p.Arg1030Pro) | |
15 | g.22903706C>T | CA7425133 | CYFIP1 | c.2582G>A (p.Arg861Gln) c.2588G>A (p.Arg863Gln) c.1295G>A (p.Arg432Gln) n.1735G>A c.2987G>A (p.Arg996Gln) c.2690G>A (p.Arg897Gln) c.908G>A (p.Arg303Gln) c.2498G>A (p.Arg833Gln) c.2222G>A (p.Arg741Gln) c.2486G>A (p.Arg829Gln) c.2684G>A (p.Arg895Gln) c.3089G>A (p.Arg1030Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.22903707G>A | CA267616314 | CYFIP1 | c.2581C>T (p.Arg861Trp) c.2587C>T (p.Arg863Trp) c.1294C>T (p.Arg432Trp) n.1734C>T c.2986C>T (p.Arg996Trp) c.2689C>T (p.Arg897Trp) c.907C>T (p.Arg303Trp) c.2497C>T (p.Arg833Trp) c.2221C>T (p.Arg741Trp) c.2485C>T (p.Arg829Trp) c.2683C>T (p.Arg895Trp) c.3088C>T (p.Arg1030Trp) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903707G>C | CA391334124 | CYFIP1 | c.2581C>G (p.Arg861Gly) c.2587C>G (p.Arg863Gly) c.1294C>G (p.Arg432Gly) n.1734C>G c.2986C>G (p.Arg996Gly) c.2689C>G (p.Arg897Gly) c.907C>G (p.Arg303Gly) c.2497C>G (p.Arg833Gly) c.2221C>G (p.Arg741Gly) c.2485C>G (p.Arg829Gly) c.2683C>G (p.Arg895Gly) c.3088C>G (p.Arg1030Gly) | gnomAD v4 |
15 | g.22903707G= | CA2163977893 | CYFIP1 | c.2581C= (p.Arg861=) c.2587C= (p.Arg863=) c.1294C= (p.Arg432=) n.1734C= c.2986C= (p.Arg996=) c.2689C= (p.Arg897=) c.907C= (p.Arg303=) c.2497C= (p.Arg833=) c.2221C= (p.Arg741=) c.2485C= (p.Arg829=) c.2683C= (p.Arg895=) c.3088C= (p.Arg1030=) | |
15 | g.22903707G>T | CA488526416 | CYFIP1 | c.2581C>A (p.Arg861=) c.2587C>A (p.Arg863=) c.1294C>A (p.Arg432=) n.1734C>A c.2986C>A (p.Arg996=) c.2689C>A (p.Arg897=) c.907C>A (p.Arg303=) c.2497C>A (p.Arg833=) c.2221C>A (p.Arg741=) c.2485C>A (p.Arg829=) c.2683C>A (p.Arg895=) c.3088C>A (p.Arg1030=) | |
15 | g.22903708G>A | CA267616318 | CYFIP1 | c.2580C>T (p.Asn860=) c.2586C>T (p.Asn862=) c.1293C>T (p.Asn431=) n.1733C>T c.2985C>T (p.Asn995=) c.2688C>T (p.Asn896=) c.906C>T (p.Asn302=) c.2496C>T (p.Asn832=) c.2220C>T (p.Asn740=) c.2484C>T (p.Asn828=) c.2682C>T (p.Asn894=) c.3087C>T (p.Asn1029=) | dbSNP gnomAD v2 |
15 | g.22903708G>C | CA391334125 | CYFIP1 | c.2580C>G (p.Asn860Lys) c.2586C>G (p.Asn862Lys) c.1293C>G (p.Asn431Lys) n.1733C>G c.2985C>G (p.Asn995Lys) c.2688C>G (p.Asn896Lys) c.906C>G (p.Asn302Lys) c.2496C>G (p.Asn832Lys) c.2220C>G (p.Asn740Lys) c.2484C>G (p.Asn828Lys) c.2682C>G (p.Asn894Lys) c.3087C>G (p.Asn1029Lys) | |
15 | g.22903708G= | CA2163977895 | CYFIP1 | c.2580C= (p.Asn860=) c.2586C= (p.Asn862=) c.1293C= (p.Asn431=) n.1733C= c.2985C= (p.Asn995=) c.2688C= (p.Asn896=) c.906C= (p.Asn302=) c.2496C= (p.Asn832=) c.2220C= (p.Asn740=) c.2484C= (p.Asn828=) c.2682C= (p.Asn894=) c.3087C= (p.Asn1029=) | |
15 | g.22903708G>T | CA391334127 | CYFIP1 | c.2580C>A (p.Asn860Lys) c.2586C>A (p.Asn862Lys) c.1293C>A (p.Asn431Lys) n.1733C>A c.2985C>A (p.Asn995Lys) c.2688C>A (p.Asn896Lys) c.906C>A (p.Asn302Lys) c.2496C>A (p.Asn832Lys) c.2220C>A (p.Asn740Lys) c.2484C>A (p.Asn828Lys) c.2682C>A (p.Asn894Lys) c.3087C>A (p.Asn1029Lys) | dbSNP gnomAD v2 |
15 | g.22903709T>A | CA391334129 | CYFIP1 | c.2579A>T (p.Asn860Ile) c.2585A>T (p.Asn862Ile) c.1292A>T (p.Asn431Ile) n.1732A>T c.2984A>T (p.Asn995Ile) c.2687A>T (p.Asn896Ile) c.905A>T (p.Asn302Ile) c.2495A>T (p.Asn832Ile) c.2219A>T (p.Asn740Ile) c.2483A>T (p.Asn828Ile) c.2681A>T (p.Asn894Ile) c.3086A>T (p.Asn1029Ile) | |
15 | g.22903709T>C | CA391334130 | CYFIP1 | c.2579A>G (p.Asn860Ser) c.2585A>G (p.Asn862Ser) c.1292A>G (p.Asn431Ser) n.1732A>G c.2984A>G (p.Asn995Ser) c.2687A>G (p.Asn896Ser) c.905A>G (p.Asn302Ser) c.2495A>G (p.Asn832Ser) c.2219A>G (p.Asn740Ser) c.2483A>G (p.Asn828Ser) c.2681A>G (p.Asn894Ser) c.3086A>G (p.Asn1029Ser) | |
15 | g.22903709T>G | CA391334134 | CYFIP1 | c.2579A>C (p.Asn860Thr) c.2585A>C (p.Asn862Thr) c.1292A>C (p.Asn431Thr) n.1732A>C c.2984A>C (p.Asn995Thr) c.2687A>C (p.Asn896Thr) c.905A>C (p.Asn302Thr) c.2495A>C (p.Asn832Thr) c.2219A>C (p.Asn740Thr) c.2483A>C (p.Asn828Thr) c.2681A>C (p.Asn894Thr) c.3086A>C (p.Asn1029Thr) | gnomAD v4 |
15 | g.22903710T>A | CA391334135 | CYFIP1 | c.2578A>T (p.Asn860Tyr) c.2584A>T (p.Asn862Tyr) c.1291A>T (p.Asn431Tyr) n.1731A>T c.2983A>T (p.Asn995Tyr) c.2686A>T (p.Asn896Tyr) c.904A>T (p.Asn302Tyr) c.2494A>T (p.Asn832Tyr) c.2218A>T (p.Asn740Tyr) c.2482A>T (p.Asn828Tyr) c.2680A>T (p.Asn894Tyr) c.3085A>T (p.Asn1029Tyr) | |
15 | g.22903710T>C | CA391334136 | CYFIP1 | c.2578A>G (p.Asn860Asp) c.2584A>G (p.Asn862Asp) c.1291A>G (p.Asn431Asp) n.1731A>G c.2983A>G (p.Asn995Asp) c.2686A>G (p.Asn896Asp) c.904A>G (p.Asn302Asp) c.2494A>G (p.Asn832Asp) c.2218A>G (p.Asn740Asp) c.2482A>G (p.Asn828Asp) c.2680A>G (p.Asn894Asp) c.3085A>G (p.Asn1029Asp) | |
15 | g.22903710T>G | CA391334139 | CYFIP1 | c.2578A>C (p.Asn860His) c.2584A>C (p.Asn862His) c.1291A>C (p.Asn431His) n.1731A>C c.2983A>C (p.Asn995His) c.2686A>C (p.Asn896His) c.904A>C (p.Asn302His) c.2494A>C (p.Asn832His) c.2218A>C (p.Asn740His) c.2482A>C (p.Asn828His) c.2680A>C (p.Asn894His) c.3085A>C (p.Asn1029His) | |
15 | g.22903711G>A | CA488526418 | CYFIP1 | c.2577C>T (p.Thr859=) c.2583C>T (p.Thr861=) c.1290C>T (p.Thr430=) n.1730C>T c.2982C>T (p.Thr994=) c.2685C>T (p.Thr895=) c.903C>T (p.Thr301=) c.2493C>T (p.Thr831=) c.2217C>T (p.Thr739=) c.2481C>T (p.Thr827=) c.2679C>T (p.Thr893=) c.3084C>T (p.Thr1028=) | gnomAD v4 |
15 | g.22903711G>C | CA488526419 | CYFIP1 | c.2577C>G (p.Thr859=) c.2583C>G (p.Thr861=) c.1290C>G (p.Thr430=) n.1730C>G c.2982C>G (p.Thr994=) c.2685C>G (p.Thr895=) c.903C>G (p.Thr301=) c.2493C>G (p.Thr831=) c.2217C>G (p.Thr739=) c.2481C>G (p.Thr827=) c.2679C>G (p.Thr893=) c.3084C>G (p.Thr1028=) | |
15 | g.22903711G>T | CA488526417 | CYFIP1 | c.2577C>A (p.Thr859=) c.2583C>A (p.Thr861=) c.1290C>A (p.Thr430=) n.1730C>A c.2982C>A (p.Thr994=) c.2685C>A (p.Thr895=) c.903C>A (p.Thr301=) c.2493C>A (p.Thr831=) c.2217C>A (p.Thr739=) c.2481C>A (p.Thr827=) c.2679C>A (p.Thr893=) c.3084C>A (p.Thr1028=) | gnomAD v4 |
15 | g.22903712G>A | CA391334143 | CYFIP1 | c.2576C>T (p.Thr859Ile) c.2582C>T (p.Thr861Ile) c.1289C>T (p.Thr430Ile) n.1729C>T c.2981C>T (p.Thr994Ile) c.2684C>T (p.Thr895Ile) c.902C>T (p.Thr301Ile) c.2492C>T (p.Thr831Ile) c.2216C>T (p.Thr739Ile) c.2480C>T (p.Thr827Ile) c.2678C>T (p.Thr893Ile) c.3083C>T (p.Thr1028Ile) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903712G>C | CA7425132 | CYFIP1 | c.2576C>G (p.Thr859Ser) c.2582C>G (p.Thr861Ser) c.1289C>G (p.Thr430Ser) n.1729C>G c.2981C>G (p.Thr994Ser) c.2684C>G (p.Thr895Ser) c.902C>G (p.Thr301Ser) c.2492C>G (p.Thr831Ser) c.2216C>G (p.Thr739Ser) c.2480C>G (p.Thr827Ser) c.2678C>G (p.Thr893Ser) c.3083C>G (p.Thr1028Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.22903712G= | CA2163977899 | CYFIP1 | c.2576C= (p.Thr859=) c.2582C= (p.Thr861=) c.1289C= (p.Thr430=) n.1729C= c.2981C= (p.Thr994=) c.2684C= (p.Thr895=) c.902C= (p.Thr301=) c.2492C= (p.Thr831=) c.2216C= (p.Thr739=) c.2480C= (p.Thr827=) c.2678C= (p.Thr893=) c.3083C= (p.Thr1028=) | |
15 | g.22903712G>T | CA391334141 | CYFIP1 | c.2576C>A (p.Thr859Asn) c.2582C>A (p.Thr861Asn) c.1289C>A (p.Thr430Asn) n.1729C>A c.2981C>A (p.Thr994Asn) c.2684C>A (p.Thr895Asn) c.902C>A (p.Thr301Asn) c.2492C>A (p.Thr831Asn) c.2216C>A (p.Thr739Asn) c.2480C>A (p.Thr827Asn) c.2678C>A (p.Thr893Asn) c.3083C>A (p.Thr1028Asn) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903713T>A | CA391334146 | CYFIP1 | c.2575A>T (p.Thr859Ser) c.2581A>T (p.Thr861Ser) c.1288A>T (p.Thr430Ser) n.1728A>T c.2980A>T (p.Thr994Ser) c.2683A>T (p.Thr895Ser) c.901A>T (p.Thr301Ser) c.2491A>T (p.Thr831Ser) c.2215A>T (p.Thr739Ser) c.2479A>T (p.Thr827Ser) c.2677A>T (p.Thr893Ser) c.3082A>T (p.Thr1028Ser) | |
15 | g.22903713T>C | CA391334147 | CYFIP1 | c.2575A>G (p.Thr859Ala) c.2581A>G (p.Thr861Ala) c.1288A>G (p.Thr430Ala) n.1728A>G c.2980A>G (p.Thr994Ala) c.2683A>G (p.Thr895Ala) c.901A>G (p.Thr301Ala) c.2491A>G (p.Thr831Ala) c.2215A>G (p.Thr739Ala) c.2479A>G (p.Thr827Ala) c.2677A>G (p.Thr893Ala) c.3082A>G (p.Thr1028Ala) | dbSNP |
15 | g.22903713T>G | CA391334148 | CYFIP1 | c.2575A>C (p.Thr859Pro) c.2581A>C (p.Thr861Pro) c.1288A>C (p.Thr430Pro) n.1728A>C c.2980A>C (p.Thr994Pro) c.2683A>C (p.Thr895Pro) c.901A>C (p.Thr301Pro) c.2491A>C (p.Thr831Pro) c.2215A>C (p.Thr739Pro) c.2479A>C (p.Thr827Pro) c.2677A>C (p.Thr893Pro) c.3082A>C (p.Thr1028Pro) | |
15 | g.22903713T= | CA2163977902 | CYFIP1 | c.2575A= (p.Thr859=) c.2581A= (p.Thr861=) c.1288A= (p.Thr430=) n.1728A= c.2980A= (p.Thr994=) c.2683A= (p.Thr895=) c.901A= (p.Thr301=) c.2491A= (p.Thr831=) c.2215A= (p.Thr739=) c.2479A= (p.Thr827=) c.2677A= (p.Thr893=) c.3082A= (p.Thr1028=) | |
15 | g.22903714A>C | CA488526422 | CYFIP1 | c.2574T>G (p.Ser858=) c.2580T>G (p.Ser860=) c.1287T>G (p.Ser429=) n.1727T>G c.2979T>G (p.Ser993=) c.2682T>G (p.Ser894=) c.900T>G (p.Ser300=) c.2490T>G (p.Ser830=) c.2214T>G (p.Ser738=) c.2478T>G (p.Ser826=) c.2676T>G (p.Ser892=) c.3081T>G (p.Ser1027=) | |
15 | g.22903714A>G | CA488526420 | CYFIP1 | c.2574T>C (p.Ser858=) c.2580T>C (p.Ser860=) c.1287T>C (p.Ser429=) n.1727T>C c.2979T>C (p.Ser993=) c.2682T>C (p.Ser894=) c.900T>C (p.Ser300=) c.2490T>C (p.Ser830=) c.2214T>C (p.Ser738=) c.2478T>C (p.Ser826=) c.2676T>C (p.Ser892=) c.3081T>C (p.Ser1027=) | |
15 | g.22903714A>T | CA488526421 | CYFIP1 | c.2574T>A (p.Ser858=) c.2580T>A (p.Ser860=) c.1287T>A (p.Ser429=) n.1727T>A c.2979T>A (p.Ser993=) c.2682T>A (p.Ser894=) c.900T>A (p.Ser300=) c.2490T>A (p.Ser830=) c.2214T>A (p.Ser738=) c.2478T>A (p.Ser826=) c.2676T>A (p.Ser892=) c.3081T>A (p.Ser1027=) | |
15 | g.22903715G>A | CA391334150 | CYFIP1 | c.2573C>T (p.Ser858Phe) c.2579C>T (p.Ser860Phe) c.1286C>T (p.Ser429Phe) n.1726C>T c.2978C>T (p.Ser993Phe) c.2681C>T (p.Ser894Phe) c.899C>T (p.Ser300Phe) c.2489C>T (p.Ser830Phe) c.2213C>T (p.Ser738Phe) c.2477C>T (p.Ser826Phe) c.2675C>T (p.Ser892Phe) c.3080C>T (p.Ser1027Phe) | |
15 | g.22903715G>C | CA7425131 | CYFIP1 | c.2573C>G (p.Ser858Cys) c.2579C>G (p.Ser860Cys) c.1286C>G (p.Ser429Cys) n.1726C>G c.2978C>G (p.Ser993Cys) c.2681C>G (p.Ser894Cys) c.899C>G (p.Ser300Cys) c.2489C>G (p.Ser830Cys) c.2213C>G (p.Ser738Cys) c.2477C>G (p.Ser826Cys) c.2675C>G (p.Ser892Cys) c.3080C>G (p.Ser1027Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903715G= | CA2163977907 | CYFIP1 | c.2573C= (p.Ser858=) c.2579C= (p.Ser860=) c.1286C= (p.Ser429=) n.1726C= c.2978C= (p.Ser993=) c.2681C= (p.Ser894=) c.899C= (p.Ser300=) c.2489C= (p.Ser830=) c.2213C= (p.Ser738=) c.2477C= (p.Ser826=) c.2675C= (p.Ser892=) c.3080C= (p.Ser1027=) | |
15 | g.22903715G>T | CA391334152 | CYFIP1 | c.2573C>A (p.Ser858Tyr) c.2579C>A (p.Ser860Tyr) c.1286C>A (p.Ser429Tyr) n.1726C>A c.2978C>A (p.Ser993Tyr) c.2681C>A (p.Ser894Tyr) c.899C>A (p.Ser300Tyr) c.2489C>A (p.Ser830Tyr) c.2213C>A (p.Ser738Tyr) c.2477C>A (p.Ser826Tyr) c.2675C>A (p.Ser892Tyr) c.3080C>A (p.Ser1027Tyr) | |
15 | g.22903716A>C | CA391334154 | CYFIP1 | c.2572T>G (p.Ser858Ala) c.2578T>G (p.Ser860Ala) c.1285T>G (p.Ser429Ala) n.1725T>G c.2977T>G (p.Ser993Ala) c.2680T>G (p.Ser894Ala) c.898T>G (p.Ser300Ala) c.2488T>G (p.Ser830Ala) c.2212T>G (p.Ser738Ala) c.2476T>G (p.Ser826Ala) c.2674T>G (p.Ser892Ala) c.3079T>G (p.Ser1027Ala) | |
15 | g.22903716A>G | CA391334156 | CYFIP1 | c.2572T>C (p.Ser858Pro) c.2578T>C (p.Ser860Pro) c.1285T>C (p.Ser429Pro) n.1725T>C c.2977T>C (p.Ser993Pro) c.2680T>C (p.Ser894Pro) c.898T>C (p.Ser300Pro) c.2488T>C (p.Ser830Pro) c.2212T>C (p.Ser738Pro) c.2476T>C (p.Ser826Pro) c.2674T>C (p.Ser892Pro) c.3079T>C (p.Ser1027Pro) | |
15 | g.22903716A>T | CA391334158 | CYFIP1 | c.2572T>A (p.Ser858Thr) c.2578T>A (p.Ser860Thr) c.1285T>A (p.Ser429Thr) n.1725T>A c.2977T>A (p.Ser993Thr) c.2680T>A (p.Ser894Thr) c.898T>A (p.Ser300Thr) c.2488T>A (p.Ser830Thr) c.2212T>A (p.Ser738Thr) c.2476T>A (p.Ser826Thr) c.2674T>A (p.Ser892Thr) c.3079T>A (p.Ser1027Thr) | |
15 | g.22903717G>A | CA488526423 | CYFIP1 | c.2571C>T (p.Gly857=) c.2577C>T (p.Gly859=) c.1284C>T (p.Gly428=) n.1724C>T c.2976C>T (p.Gly992=) c.2679C>T (p.Gly893=) c.897C>T (p.Gly299=) c.2487C>T (p.Gly829=) c.2211C>T (p.Gly737=) c.2475C>T (p.Gly825=) c.2673C>T (p.Gly891=) c.3078C>T (p.Gly1026=) | |
15 | g.22903717G>C | CA488526424 | CYFIP1 | c.2571C>G (p.Gly857=) c.2577C>G (p.Gly859=) c.1284C>G (p.Gly428=) n.1724C>G c.2976C>G (p.Gly992=) c.2679C>G (p.Gly893=) c.897C>G (p.Gly299=) c.2487C>G (p.Gly829=) c.2211C>G (p.Gly737=) c.2475C>G (p.Gly825=) c.2673C>G (p.Gly891=) c.3078C>G (p.Gly1026=) | gnomAD v4 |
15 | g.22903717G>T | CA488526425 | CYFIP1 | c.2571C>A (p.Gly857=) c.2577C>A (p.Gly859=) c.1284C>A (p.Gly428=) n.1724C>A c.2976C>A (p.Gly992=) c.2679C>A (p.Gly893=) c.897C>A (p.Gly299=) c.2487C>A (p.Gly829=) c.2211C>A (p.Gly737=) c.2475C>A (p.Gly825=) c.2673C>A (p.Gly891=) c.3078C>A (p.Gly1026=) | |
15 | g.22903718C>A | CA391334160 | CYFIP1 | c.2570G>T (p.Gly857Val) c.2576G>T (p.Gly859Val) c.1283G>T (p.Gly428Val) n.1723G>T c.2975G>T (p.Gly992Val) c.2678G>T (p.Gly893Val) c.896G>T (p.Gly299Val) c.2486G>T (p.Gly829Val) c.2210G>T (p.Gly737Val) c.2474G>T (p.Gly825Val) c.2672G>T (p.Gly891Val) c.3077G>T (p.Gly1026Val) | |
15 | g.22903718C= | CA2163977915 | CYFIP1 | c.2570G= (p.Gly857=) c.2576G= (p.Gly859=) c.1283G= (p.Gly428=) n.1723G= c.2975G= (p.Gly992=) c.2678G= (p.Gly893=) c.896G= (p.Gly299=) c.2486G= (p.Gly829=) c.2210G= (p.Gly737=) c.2474G= (p.Gly825=) c.2672G= (p.Gly891=) c.3077G= (p.Gly1026=) | |
15 | g.22903718C>G | CA391334161 | CYFIP1 | c.2570G>C (p.Gly857Ala) c.2576G>C (p.Gly859Ala) c.1283G>C (p.Gly428Ala) n.1723G>C c.2975G>C (p.Gly992Ala) c.2678G>C (p.Gly893Ala) c.896G>C (p.Gly299Ala) c.2486G>C (p.Gly829Ala) c.2210G>C (p.Gly737Ala) c.2474G>C (p.Gly825Ala) c.2672G>C (p.Gly891Ala) c.3077G>C (p.Gly1026Ala) | |
15 | g.22903718C>T | CA7425130 | CYFIP1 | c.2570G>A (p.Gly857Asp) c.2576G>A (p.Gly859Asp) c.1283G>A (p.Gly428Asp) n.1723G>A c.2975G>A (p.Gly992Asp) c.2678G>A (p.Gly893Asp) c.896G>A (p.Gly299Asp) c.2486G>A (p.Gly829Asp) c.2210G>A (p.Gly737Asp) c.2474G>A (p.Gly825Asp) c.2672G>A (p.Gly891Asp) c.3077G>A (p.Gly1026Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.22903719C>A | CA391334165 | CYFIP1 | c.2569G>T (p.Gly857Cys) c.2575G>T (p.Gly859Cys) c.1282G>T (p.Gly428Cys) n.1722G>T c.2974G>T (p.Gly992Cys) c.2677G>T (p.Gly893Cys) c.895G>T (p.Gly299Cys) c.2485G>T (p.Gly829Cys) c.2209G>T (p.Gly737Cys) c.2473G>T (p.Gly825Cys) c.2671G>T (p.Gly891Cys) c.3076G>T (p.Gly1026Cys) | gnomAD v4 |
15 | g.22903719C= | CA2163977917 | CYFIP1 | c.2569G= (p.Gly857=) c.2575G= (p.Gly859=) c.1282G= (p.Gly428=) n.1722G= c.2974G= (p.Gly992=) c.2677G= (p.Gly893=) c.895G= (p.Gly299=) c.2485G= (p.Gly829=) c.2209G= (p.Gly737=) c.2473G= (p.Gly825=) c.2671G= (p.Gly891=) c.3076G= (p.Gly1026=) | |
15 | g.22903719C>G | CA391334166 | CYFIP1 | c.2569G>C (p.Gly857Arg) c.2575G>C (p.Gly859Arg) c.1282G>C (p.Gly428Arg) n.1722G>C c.2974G>C (p.Gly992Arg) c.2677G>C (p.Gly893Arg) c.895G>C (p.Gly299Arg) c.2485G>C (p.Gly829Arg) c.2209G>C (p.Gly737Arg) c.2473G>C (p.Gly825Arg) c.2671G>C (p.Gly891Arg) c.3076G>C (p.Gly1026Arg) | |
15 | g.22903719C>T | CA7425129 | CYFIP1 | c.2569G>A (p.Gly857Ser) c.2575G>A (p.Gly859Ser) c.1282G>A (p.Gly428Ser) n.1722G>A c.2974G>A (p.Gly992Ser) c.2677G>A (p.Gly893Ser) c.895G>A (p.Gly299Ser) c.2485G>A (p.Gly829Ser) c.2209G>A (p.Gly737Ser) c.2473G>A (p.Gly825Ser) c.2671G>A (p.Gly891Ser) c.3076G>A (p.Gly1026Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903720G>A | CA7425128 | CYFIP1 | c.2568C>T (p.Asn856=) c.2574C>T (p.Asn858=) c.1281C>T (p.Asn427=) n.1721C>T c.2973C>T (p.Asn991=) c.2676C>T (p.Asn892=) c.894C>T (p.Asn298=) c.2484C>T (p.Asn828=) c.2208C>T (p.Asn736=) c.2472C>T (p.Asn824=) c.2670C>T (p.Asn890=) c.3075C>T (p.Asn1025=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903720G>C | CA391334170 | CYFIP1 | c.2568C>G (p.Asn856Lys) c.2574C>G (p.Asn858Lys) c.1281C>G (p.Asn427Lys) n.1721C>G c.2973C>G (p.Asn991Lys) c.2676C>G (p.Asn892Lys) c.894C>G (p.Asn298Lys) c.2484C>G (p.Asn828Lys) c.2208C>G (p.Asn736Lys) c.2472C>G (p.Asn824Lys) c.2670C>G (p.Asn890Lys) c.3075C>G (p.Asn1025Lys) | |
15 | g.22903720G= | CA2163977921 | CYFIP1 | c.2568C= (p.Asn856=) c.2574C= (p.Asn858=) c.1281C= (p.Asn427=) n.1721C= c.2973C= (p.Asn991=) c.2676C= (p.Asn892=) c.894C= (p.Asn298=) c.2484C= (p.Asn828=) c.2208C= (p.Asn736=) c.2472C= (p.Asn824=) c.2670C= (p.Asn890=) c.3075C= (p.Asn1025=) | |
15 | g.22903720G>T | CA391334171 | CYFIP1 | c.2568C>A (p.Asn856Lys) c.2574C>A (p.Asn858Lys) c.1281C>A (p.Asn427Lys) n.1721C>A c.2973C>A (p.Asn991Lys) c.2676C>A (p.Asn892Lys) c.894C>A (p.Asn298Lys) c.2484C>A (p.Asn828Lys) c.2208C>A (p.Asn736Lys) c.2472C>A (p.Asn824Lys) c.2670C>A (p.Asn890Lys) c.3075C>A (p.Asn1025Lys) | |
15 | g.22903721T>A | CA391334173 | CYFIP1 | c.2567A>T (p.Asn856Ile) c.2573A>T (p.Asn858Ile) c.1280A>T (p.Asn427Ile) n.1720A>T c.2972A>T (p.Asn991Ile) c.2675A>T (p.Asn892Ile) c.893A>T (p.Asn298Ile) c.2483A>T (p.Asn828Ile) c.2207A>T (p.Asn736Ile) c.2471A>T (p.Asn824Ile) c.2669A>T (p.Asn890Ile) c.3074A>T (p.Asn1025Ile) | |
15 | g.22903721T>C | CA391334175 | CYFIP1 | c.2567A>G (p.Asn856Ser) c.2573A>G (p.Asn858Ser) c.1280A>G (p.Asn427Ser) n.1720A>G c.2972A>G (p.Asn991Ser) c.2675A>G (p.Asn892Ser) c.893A>G (p.Asn298Ser) c.2483A>G (p.Asn828Ser) c.2207A>G (p.Asn736Ser) c.2471A>G (p.Asn824Ser) c.2669A>G (p.Asn890Ser) c.3074A>G (p.Asn1025Ser) | |
15 | g.22903721T>G | CA391334176 | CYFIP1 | c.2567A>C (p.Asn856Thr) c.2573A>C (p.Asn858Thr) c.1280A>C (p.Asn427Thr) n.1720A>C c.2972A>C (p.Asn991Thr) c.2675A>C (p.Asn892Thr) c.893A>C (p.Asn298Thr) c.2483A>C (p.Asn828Thr) c.2207A>C (p.Asn736Thr) c.2471A>C (p.Asn824Thr) c.2669A>C (p.Asn890Thr) c.3074A>C (p.Asn1025Thr) | |
15 | g.22903722T>A | CA391334177 | CYFIP1 | c.2566A>T (p.Asn856Tyr) c.2572A>T (p.Asn858Tyr) c.1279A>T (p.Asn427Tyr) n.1719A>T c.2971A>T (p.Asn991Tyr) c.2674A>T (p.Asn892Tyr) c.892A>T (p.Asn298Tyr) c.2482A>T (p.Asn828Tyr) c.2206A>T (p.Asn736Tyr) c.2470A>T (p.Asn824Tyr) c.2668A>T (p.Asn890Tyr) c.3073A>T (p.Asn1025Tyr) | |
15 | g.22903722T>C | CA391334180 | CYFIP1 | c.2566A>G (p.Asn856Asp) c.2572A>G (p.Asn858Asp) c.1279A>G (p.Asn427Asp) n.1719A>G c.2971A>G (p.Asn991Asp) c.2674A>G (p.Asn892Asp) c.892A>G (p.Asn298Asp) c.2482A>G (p.Asn828Asp) c.2206A>G (p.Asn736Asp) c.2470A>G (p.Asn824Asp) c.2668A>G (p.Asn890Asp) c.3073A>G (p.Asn1025Asp) | |
15 | g.22903722T>G | CA391334181 | CYFIP1 | c.2566A>C (p.Asn856His) c.2572A>C (p.Asn858His) c.1279A>C (p.Asn427His) n.1719A>C c.2971A>C (p.Asn991His) c.2674A>C (p.Asn892His) c.892A>C (p.Asn298His) c.2482A>C (p.Asn828His) c.2206A>C (p.Asn736His) c.2470A>C (p.Asn824His) c.2668A>C (p.Asn890His) c.3073A>C (p.Asn1025His) | |
15 | g.22903723G>A | CA7425127 | CYFIP1 | c.2565C>T (p.Tyr855=) c.2571C>T (p.Tyr857=) c.1278C>T (p.Tyr426=) n.1718C>T c.2970C>T (p.Tyr990=) c.2673C>T (p.Tyr891=) c.891C>T (p.Tyr297=) c.2481C>T (p.Tyr827=) c.2205C>T (p.Tyr735=) c.2469C>T (p.Tyr823=) c.2667C>T (p.Tyr889=) c.3072C>T (p.Tyr1024=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903723G>C | CA391334184 | CYFIP1 | c.2565C>G (p.Tyr855Ter) c.2571C>G (p.Tyr857Ter) c.1278C>G (p.Tyr426Ter) n.1718C>G c.2970C>G (p.Tyr990Ter) c.2673C>G (p.Tyr891Ter) c.891C>G (p.Tyr297Ter) c.2481C>G (p.Tyr827Ter) c.2205C>G (p.Tyr735Ter) c.2469C>G (p.Tyr823Ter) c.2667C>G (p.Tyr889Ter) c.3072C>G (p.Tyr1024Ter) | |
15 | g.22903723G= | CA2163977925 | CYFIP1 | c.2565C= (p.Tyr855=) c.2571C= (p.Tyr857=) c.1278C= (p.Tyr426=) n.1718C= c.2970C= (p.Tyr990=) c.2673C= (p.Tyr891=) c.891C= (p.Tyr297=) c.2481C= (p.Tyr827=) c.2205C= (p.Tyr735=) c.2469C= (p.Tyr823=) c.2667C= (p.Tyr889=) c.3072C= (p.Tyr1024=) | |
15 | g.22903723G>T | CA391334185 | CYFIP1 | c.2565C>A (p.Tyr855Ter) c.2571C>A (p.Tyr857Ter) c.1278C>A (p.Tyr426Ter) n.1718C>A c.2970C>A (p.Tyr990Ter) c.2673C>A (p.Tyr891Ter) c.891C>A (p.Tyr297Ter) c.2481C>A (p.Tyr827Ter) c.2205C>A (p.Tyr735Ter) c.2469C>A (p.Tyr823Ter) c.2667C>A (p.Tyr889Ter) c.3072C>A (p.Tyr1024Ter) | |
15 | g.22903724T>A | CA391334189 | CYFIP1 | c.2564A>T (p.Tyr855Phe) c.2570A>T (p.Tyr857Phe) c.1277A>T (p.Tyr426Phe) n.1717A>T c.2969A>T (p.Tyr990Phe) c.2672A>T (p.Tyr891Phe) c.890A>T (p.Tyr297Phe) c.2480A>T (p.Tyr827Phe) c.2204A>T (p.Tyr735Phe) c.2468A>T (p.Tyr823Phe) c.2666A>T (p.Tyr889Phe) c.3071A>T (p.Tyr1024Phe) | |
15 | g.22903724T>C | CA391334187 | CYFIP1 | c.2564A>G (p.Tyr855Cys) c.2570A>G (p.Tyr857Cys) c.1277A>G (p.Tyr426Cys) n.1717A>G c.2969A>G (p.Tyr990Cys) c.2672A>G (p.Tyr891Cys) c.890A>G (p.Tyr297Cys) c.2480A>G (p.Tyr827Cys) c.2204A>G (p.Tyr735Cys) c.2468A>G (p.Tyr823Cys) c.2666A>G (p.Tyr889Cys) c.3071A>G (p.Tyr1024Cys) | |
15 | g.22903724T>G | CA391334188 | CYFIP1 | c.2564A>C (p.Tyr855Ser) c.2570A>C (p.Tyr857Ser) c.1277A>C (p.Tyr426Ser) n.1717A>C c.2969A>C (p.Tyr990Ser) c.2672A>C (p.Tyr891Ser) c.890A>C (p.Tyr297Ser) c.2480A>C (p.Tyr827Ser) c.2204A>C (p.Tyr735Ser) c.2468A>C (p.Tyr823Ser) c.2666A>C (p.Tyr889Ser) c.3071A>C (p.Tyr1024Ser) | |
15 | g.22903725A>C | CA391334190 | CYFIP1 | c.2563T>G (p.Tyr855Asp) c.2569T>G (p.Tyr857Asp) c.1276T>G (p.Tyr426Asp) n.1716T>G c.2968T>G (p.Tyr990Asp) c.2671T>G (p.Tyr891Asp) c.889T>G (p.Tyr297Asp) c.2479T>G (p.Tyr827Asp) c.2203T>G (p.Tyr735Asp) c.2467T>G (p.Tyr823Asp) c.2665T>G (p.Tyr889Asp) c.3070T>G (p.Tyr1024Asp) | |
15 | g.22903725A>G | CA391334191 | CYFIP1 | c.2563T>C (p.Tyr855His) c.2569T>C (p.Tyr857His) c.1276T>C (p.Tyr426His) n.1716T>C c.2968T>C (p.Tyr990His) c.2671T>C (p.Tyr891His) c.889T>C (p.Tyr297His) c.2479T>C (p.Tyr827His) c.2203T>C (p.Tyr735His) c.2467T>C (p.Tyr823His) c.2665T>C (p.Tyr889His) c.3070T>C (p.Tyr1024His) | gnomAD v4 |
15 | g.22903725A>T | CA391334192 | CYFIP1 | c.2563T>A (p.Tyr855Asn) c.2569T>A (p.Tyr857Asn) c.1276T>A (p.Tyr426Asn) n.1716T>A c.2968T>A (p.Tyr990Asn) c.2671T>A (p.Tyr891Asn) c.889T>A (p.Tyr297Asn) c.2479T>A (p.Tyr827Asn) c.2203T>A (p.Tyr735Asn) c.2467T>A (p.Tyr823Asn) c.2665T>A (p.Tyr889Asn) c.3070T>A (p.Tyr1024Asn) | |
15 | g.22903726G>A | CA488526426 | CYFIP1 | c.2562C>T (p.Cys854=) c.2568C>T (p.Cys856=) c.1275C>T (p.Cys425=) n.1715C>T c.2967C>T (p.Cys989=) c.2670C>T (p.Cys890=) c.888C>T (p.Cys296=) c.2478C>T (p.Cys826=) c.2202C>T (p.Cys734=) c.2466C>T (p.Cys822=) c.2664C>T (p.Cys888=) c.3069C>T (p.Cys1023=) | |
15 | g.22903726G>C | CA391334193 | CYFIP1 | c.2562C>G (p.Cys854Trp) c.2568C>G (p.Cys856Trp) c.1275C>G (p.Cys425Trp) n.1715C>G c.2967C>G (p.Cys989Trp) c.2670C>G (p.Cys890Trp) c.888C>G (p.Cys296Trp) c.2478C>G (p.Cys826Trp) c.2202C>G (p.Cys734Trp) c.2466C>G (p.Cys822Trp) c.2664C>G (p.Cys888Trp) c.3069C>G (p.Cys1023Trp) | dbSNP gnomAD v2 |
15 | g.22903726G= | CA2163977929 | CYFIP1 | c.2562C= (p.Cys854=) c.2568C= (p.Cys856=) c.1275C= (p.Cys425=) n.1715C= c.2967C= (p.Cys989=) c.2670C= (p.Cys890=) c.888C= (p.Cys296=) c.2478C= (p.Cys826=) c.2202C= (p.Cys734=) c.2466C= (p.Cys822=) c.2664C= (p.Cys888=) c.3069C= (p.Cys1023=) | |
15 | g.22903726G>T | CA391334194 | CYFIP1 | c.2562C>A (p.Cys854Ter) c.2568C>A (p.Cys856Ter) c.1275C>A (p.Cys425Ter) n.1715C>A c.2967C>A (p.Cys989Ter) c.2670C>A (p.Cys890Ter) c.888C>A (p.Cys296Ter) c.2478C>A (p.Cys826Ter) c.2202C>A (p.Cys734Ter) c.2466C>A (p.Cys822Ter) c.2664C>A (p.Cys888Ter) c.3069C>A (p.Cys1023Ter) | |
15 | g.22903727C>A | CA391334195 | CYFIP1 | c.2561G>T (p.Cys854Phe) c.2567G>T (p.Cys856Phe) c.1274G>T (p.Cys425Phe) n.1714G>T c.2966G>T (p.Cys989Phe) c.2669G>T (p.Cys890Phe) c.887G>T (p.Cys296Phe) c.2477G>T (p.Cys826Phe) c.2201G>T (p.Cys734Phe) c.2465G>T (p.Cys822Phe) c.2663G>T (p.Cys888Phe) c.3068G>T (p.Cys1023Phe) | |
15 | g.22903727C>G | CA391334196 | CYFIP1 | c.2561G>C (p.Cys854Ser) c.2567G>C (p.Cys856Ser) c.1274G>C (p.Cys425Ser) n.1714G>C c.2966G>C (p.Cys989Ser) c.2669G>C (p.Cys890Ser) c.887G>C (p.Cys296Ser) c.2477G>C (p.Cys826Ser) c.2201G>C (p.Cys734Ser) c.2465G>C (p.Cys822Ser) c.2663G>C (p.Cys888Ser) c.3068G>C (p.Cys1023Ser) | |
15 | g.22903727C>T | CA391334198 | CYFIP1 | c.2561G>A (p.Cys854Tyr) c.2567G>A (p.Cys856Tyr) c.1274G>A (p.Cys425Tyr) n.1714G>A c.2966G>A (p.Cys989Tyr) c.2669G>A (p.Cys890Tyr) c.887G>A (p.Cys296Tyr) c.2477G>A (p.Cys826Tyr) c.2201G>A (p.Cys734Tyr) c.2465G>A (p.Cys822Tyr) c.2663G>A (p.Cys888Tyr) c.3068G>A (p.Cys1023Tyr) | gnomAD v4 |
15 | g.22903727_22903730delinsCAGT | CA2163977933 | CYFIP1 | c.2558_2561delinsACTG (p.Tyr853=) c.2564_2567delinsACTG (p.Tyr855=) c.1271_1274delinsACTG (p.Tyr424=) n.1711_1714delinsACTG c.2963_2966delinsACTG (p.Tyr988=) c.2666_2669delinsACTG (p.Tyr889=) c.884_887delinsACTG (p.Tyr295=) c.2474_2477delinsACTG (p.Tyr825=) c.2198_2201delinsACTG (p.Tyr733=) c.2462_2465delinsACTG (p.Tyr821=) c.2660_2663delinsACTG (p.Tyr887=) c.3065_3068delinsACTG (p.Tyr1022=) | |
15 | g.22903728A>C | CA391334200 | CYFIP1 | c.2560T>G (p.Cys854Gly) c.2566T>G (p.Cys856Gly) c.1273T>G (p.Cys425Gly) n.1713T>G c.2965T>G (p.Cys989Gly) c.2668T>G (p.Cys890Gly) c.886T>G (p.Cys296Gly) c.2476T>G (p.Cys826Gly) c.2200T>G (p.Cys734Gly) c.2464T>G (p.Cys822Gly) c.2662T>G (p.Cys888Gly) c.3067T>G (p.Cys1023Gly) | |
15 | g.22903728A>G | CA391334202 | CYFIP1 | c.2560T>C (p.Cys854Arg) c.2566T>C (p.Cys856Arg) c.1273T>C (p.Cys425Arg) n.1713T>C c.2965T>C (p.Cys989Arg) c.2668T>C (p.Cys890Arg) c.886T>C (p.Cys296Arg) c.2476T>C (p.Cys826Arg) c.2200T>C (p.Cys734Arg) c.2464T>C (p.Cys822Arg) c.2662T>C (p.Cys888Arg) c.3067T>C (p.Cys1023Arg) | gnomAD v4 |
15 | g.22903728A>T | CA391334204 | CYFIP1 | c.2560T>A (p.Cys854Ser) c.2566T>A (p.Cys856Ser) c.1273T>A (p.Cys425Ser) n.1713T>A c.2965T>A (p.Cys989Ser) c.2668T>A (p.Cys890Ser) c.886T>A (p.Cys296Ser) c.2476T>A (p.Cys826Ser) c.2200T>A (p.Cys734Ser) c.2464T>A (p.Cys822Ser) c.2662T>A (p.Cys888Ser) c.3067T>A (p.Cys1023Ser) | |
15 | g.22903731_22903733del | CA2163977936 | CYFIP1 | c.2558_2560del (p.Tyr853del) c.2564_2566del (p.Tyr855del) c.1271_1273del (p.Tyr424del) n.1711_1713del c.2963_2965del (p.Tyr988del) c.2666_2668del (p.Tyr889del) c.884_886del (p.Tyr295del) c.2474_2476del (p.Tyr825del) c.2198_2200del (p.Tyr733del) c.2462_2464del (p.Tyr821del) c.2660_2662del (p.Tyr887del) c.3065_3067del (p.Tyr1022del) | dbSNP |
15 | g.22903729G>A | CA267616331 | CYFIP1 | c.2559C>T (p.Tyr853=) c.2565C>T (p.Tyr855=) c.1272C>T (p.Tyr424=) n.1712C>T c.2964C>T (p.Tyr988=) c.2667C>T (p.Tyr889=) c.885C>T (p.Tyr295=) c.2475C>T (p.Tyr825=) c.2199C>T (p.Tyr733=) c.2463C>T (p.Tyr821=) c.2661C>T (p.Tyr887=) c.3066C>T (p.Tyr1022=) | dbSNP |
15 | g.22903729G>C | CA391334208 | CYFIP1 | c.2559C>G (p.Tyr853Ter) c.2565C>G (p.Tyr855Ter) c.1272C>G (p.Tyr424Ter) n.1712C>G c.2964C>G (p.Tyr988Ter) c.2667C>G (p.Tyr889Ter) c.885C>G (p.Tyr295Ter) c.2475C>G (p.Tyr825Ter) c.2199C>G (p.Tyr733Ter) c.2463C>G (p.Tyr821Ter) c.2661C>G (p.Tyr887Ter) c.3066C>G (p.Tyr1022Ter) | |
15 | g.22903729G= | CA2163977938 | CYFIP1 | c.2559C= (p.Tyr853=) c.2565C= (p.Tyr855=) c.1272C= (p.Tyr424=) n.1712C= c.2964C= (p.Tyr988=) c.2667C= (p.Tyr889=) c.885C= (p.Tyr295=) c.2475C= (p.Tyr825=) c.2199C= (p.Tyr733=) c.2463C= (p.Tyr821=) c.2661C= (p.Tyr887=) c.3066C= (p.Tyr1022=) | |
15 | g.22903729G>T | CA391334206 | CYFIP1 | c.2559C>A (p.Tyr853Ter) c.2565C>A (p.Tyr855Ter) c.1272C>A (p.Tyr424Ter) n.1712C>A c.2964C>A (p.Tyr988Ter) c.2667C>A (p.Tyr889Ter) c.885C>A (p.Tyr295Ter) c.2475C>A (p.Tyr825Ter) c.2199C>A (p.Tyr733Ter) c.2463C>A (p.Tyr821Ter) c.2661C>A (p.Tyr887Ter) c.3066C>A (p.Tyr1022Ter) | |
15 | g.22903730T>A | CA391334209 | CYFIP1 | c.2558A>T (p.Tyr853Phe) c.2564A>T (p.Tyr855Phe) c.1271A>T (p.Tyr424Phe) n.1711A>T c.2963A>T (p.Tyr988Phe) c.2666A>T (p.Tyr889Phe) c.884A>T (p.Tyr295Phe) c.2474A>T (p.Tyr825Phe) c.2198A>T (p.Tyr733Phe) c.2462A>T (p.Tyr821Phe) c.2660A>T (p.Tyr887Phe) c.3065A>T (p.Tyr1022Phe) | |
15 | g.22903730T>C | CA7425126 | CYFIP1 | c.2558A>G (p.Tyr853Cys) c.2564A>G (p.Tyr855Cys) c.1271A>G (p.Tyr424Cys) n.1711A>G c.2963A>G (p.Tyr988Cys) c.2666A>G (p.Tyr889Cys) c.884A>G (p.Tyr295Cys) c.2474A>G (p.Tyr825Cys) c.2198A>G (p.Tyr733Cys) c.2462A>G (p.Tyr821Cys) c.2660A>G (p.Tyr887Cys) c.3065A>G (p.Tyr1022Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.22903730T>G | CA391334211 | CYFIP1 | c.2558A>C (p.Tyr853Ser) c.2564A>C (p.Tyr855Ser) c.1271A>C (p.Tyr424Ser) n.1711A>C c.2963A>C (p.Tyr988Ser) c.2666A>C (p.Tyr889Ser) c.884A>C (p.Tyr295Ser) c.2474A>C (p.Tyr825Ser) c.2198A>C (p.Tyr733Ser) c.2462A>C (p.Tyr821Ser) c.2660A>C (p.Tyr887Ser) c.3065A>C (p.Tyr1022Ser) | |
15 | g.22903730T= | CA2163977942 | CYFIP1 | c.2558A= (p.Tyr853=) c.2564A= (p.Tyr855=) c.1271A= (p.Tyr424=) n.1711A= c.2963A= (p.Tyr988=) c.2666A= (p.Tyr889=) c.884A= (p.Tyr295=) c.2474A= (p.Tyr825=) c.2198A= (p.Tyr733=) c.2462A= (p.Tyr821=) c.2660A= (p.Tyr887=) c.3065A= (p.Tyr1022=) | |
15 | g.22903731A>C | CA391334213 | CYFIP1 | c.2557T>G (p.Tyr853Asp) c.2563T>G (p.Tyr855Asp) c.1270T>G (p.Tyr424Asp) n.1710T>G c.2962T>G (p.Tyr988Asp) c.2665T>G (p.Tyr889Asp) c.883T>G (p.Tyr295Asp) c.2473T>G (p.Tyr825Asp) c.2197T>G (p.Tyr733Asp) c.2461T>G (p.Tyr821Asp) c.2659T>G (p.Tyr887Asp) c.3064T>G (p.Tyr1022Asp) | |
15 | g.22903731A>G | CA391334214 | CYFIP1 | c.2557T>C (p.Tyr853His) c.2563T>C (p.Tyr855His) c.1270T>C (p.Tyr424His) n.1710T>C c.2962T>C (p.Tyr988His) c.2665T>C (p.Tyr889His) c.883T>C (p.Tyr295His) c.2473T>C (p.Tyr825His) c.2197T>C (p.Tyr733His) c.2461T>C (p.Tyr821His) c.2659T>C (p.Tyr887His) c.3064T>C (p.Tyr1022His) | |
15 | g.22903731A>T | CA391334216 | CYFIP1 | c.2557T>A (p.Tyr853Asn) c.2563T>A (p.Tyr855Asn) c.1270T>A (p.Tyr424Asn) n.1710T>A c.2962T>A (p.Tyr988Asn) c.2665T>A (p.Tyr889Asn) c.883T>A (p.Tyr295Asn) c.2473T>A (p.Tyr825Asn) c.2197T>A (p.Tyr733Asn) c.2461T>A (p.Tyr821Asn) c.2659T>A (p.Tyr887Asn) c.3064T>A (p.Tyr1022Asn) | |
15 | g.22903732G>A | CA488526427 | CYFIP1 | c.2556C>T (p.Asn852=) c.2562C>T (p.Asn854=) c.1269C>T (p.Asn423=) n.1709C>T c.2961C>T (p.Asn987=) c.2664C>T (p.Asn888=) c.882C>T (p.Asn294=) c.2472C>T (p.Asn824=) c.2196C>T (p.Asn732=) c.2460C>T (p.Asn820=) c.2658C>T (p.Asn886=) c.3063C>T (p.Asn1021=) | gnomAD v4 |
15 | g.22903732G>C | CA391334220 | CYFIP1 | c.2556C>G (p.Asn852Lys) c.2562C>G (p.Asn854Lys) c.1269C>G (p.Asn423Lys) n.1709C>G c.2961C>G (p.Asn987Lys) c.2664C>G (p.Asn888Lys) c.882C>G (p.Asn294Lys) c.2472C>G (p.Asn824Lys) c.2196C>G (p.Asn732Lys) c.2460C>G (p.Asn820Lys) c.2658C>G (p.Asn886Lys) c.3063C>G (p.Asn1021Lys) | gnomAD v4 |
15 | g.22903732G>T | CA391334218 | CYFIP1 | c.2556C>A (p.Asn852Lys) c.2562C>A (p.Asn854Lys) c.1269C>A (p.Asn423Lys) n.1709C>A c.2961C>A (p.Asn987Lys) c.2664C>A (p.Asn888Lys) c.882C>A (p.Asn294Lys) c.2472C>A (p.Asn824Lys) c.2196C>A (p.Asn732Lys) c.2460C>A (p.Asn820Lys) c.2658C>A (p.Asn886Lys) c.3063C>A (p.Asn1021Lys) | |
15 | g.22903733T>A | CA391334222 | CYFIP1 | c.2555A>T (p.Asn852Ile) c.2561A>T (p.Asn854Ile) c.1268A>T (p.Asn423Ile) n.1708A>T c.2960A>T (p.Asn987Ile) c.2663A>T (p.Asn888Ile) c.881A>T (p.Asn294Ile) c.2471A>T (p.Asn824Ile) c.2195A>T (p.Asn732Ile) c.2459A>T (p.Asn820Ile) c.2657A>T (p.Asn886Ile) c.3062A>T (p.Asn1021Ile) | |
15 | g.22903733T>C | CA391334224 | CYFIP1 | c.2555A>G (p.Asn852Ser) c.2561A>G (p.Asn854Ser) c.1268A>G (p.Asn423Ser) n.1708A>G c.2960A>G (p.Asn987Ser) c.2663A>G (p.Asn888Ser) c.881A>G (p.Asn294Ser) c.2471A>G (p.Asn824Ser) c.2195A>G (p.Asn732Ser) c.2459A>G (p.Asn820Ser) c.2657A>G (p.Asn886Ser) c.3062A>G (p.Asn1021Ser) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903733T>G | CA391334225 | CYFIP1 | c.2555A>C (p.Asn852Thr) c.2561A>C (p.Asn854Thr) c.1268A>C (p.Asn423Thr) n.1708A>C c.2960A>C (p.Asn987Thr) c.2663A>C (p.Asn888Thr) c.881A>C (p.Asn294Thr) c.2471A>C (p.Asn824Thr) c.2195A>C (p.Asn732Thr) c.2459A>C (p.Asn820Thr) c.2657A>C (p.Asn886Thr) c.3062A>C (p.Asn1021Thr) | |
15 | g.22903733T= | CA2163977946 | CYFIP1 | c.2555A= (p.Asn852=) c.2561A= (p.Asn854=) c.1268A= (p.Asn423=) n.1708A= c.2960A= (p.Asn987=) c.2663A= (p.Asn888=) c.881A= (p.Asn294=) c.2471A= (p.Asn824=) c.2195A= (p.Asn732=) c.2459A= (p.Asn820=) c.2657A= (p.Asn886=) c.3062A= (p.Asn1021=) | |
15 | g.22903734T>A | CA391334228 | CYFIP1 | c.2554A>T (p.Asn852Tyr) c.2560A>T (p.Asn854Tyr) c.1267A>T (p.Asn423Tyr) n.1707A>T c.2959A>T (p.Asn987Tyr) c.2662A>T (p.Asn888Tyr) c.880A>T (p.Asn294Tyr) c.2470A>T (p.Asn824Tyr) c.2194A>T (p.Asn732Tyr) c.2458A>T (p.Asn820Tyr) c.2656A>T (p.Asn886Tyr) c.3061A>T (p.Asn1021Tyr) | |
15 | g.22903734T>C | CA391334229 | CYFIP1 | c.2554A>G (p.Asn852Asp) c.2560A>G (p.Asn854Asp) c.1267A>G (p.Asn423Asp) n.1707A>G c.2959A>G (p.Asn987Asp) c.2662A>G (p.Asn888Asp) c.880A>G (p.Asn294Asp) c.2470A>G (p.Asn824Asp) c.2194A>G (p.Asn732Asp) c.2458A>G (p.Asn820Asp) c.2656A>G (p.Asn886Asp) c.3061A>G (p.Asn1021Asp) | |
15 | g.22903734T>G | CA391334231 | CYFIP1 | c.2554A>C (p.Asn852His) c.2560A>C (p.Asn854His) c.1267A>C (p.Asn423His) n.1707A>C c.2959A>C (p.Asn987His) c.2662A>C (p.Asn888His) c.880A>C (p.Asn294His) c.2470A>C (p.Asn824His) c.2194A>C (p.Asn732His) c.2458A>C (p.Asn820His) c.2656A>C (p.Asn886His) c.3061A>C (p.Asn1021His) | |
15 | g.22903735G>A | CA488526428 | CYFIP1 | c.2553C>T (p.Pro851=) c.2559C>T (p.Pro853=) c.1266C>T (p.Pro422=) n.1706C>T c.2958C>T (p.Pro986=) c.2661C>T (p.Pro887=) c.879C>T (p.Pro293=) c.2469C>T (p.Pro823=) c.2193C>T (p.Pro731=) c.2457C>T (p.Pro819=) c.2655C>T (p.Pro885=) c.3060C>T (p.Pro1020=) | |
15 | g.22903735G>C | CA488526430 | CYFIP1 | c.2553C>G (p.Pro851=) c.2559C>G (p.Pro853=) c.1266C>G (p.Pro422=) n.1706C>G c.2958C>G (p.Pro986=) c.2661C>G (p.Pro887=) c.879C>G (p.Pro293=) c.2469C>G (p.Pro823=) c.2193C>G (p.Pro731=) c.2457C>G (p.Pro819=) c.2655C>G (p.Pro885=) c.3060C>G (p.Pro1020=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903735G= | CA2163977949 | CYFIP1 | c.2553C= (p.Pro851=) c.2559C= (p.Pro853=) c.1266C= (p.Pro422=) n.1706C= c.2958C= (p.Pro986=) c.2661C= (p.Pro887=) c.879C= (p.Pro293=) c.2469C= (p.Pro823=) c.2193C= (p.Pro731=) c.2457C= (p.Pro819=) c.2655C= (p.Pro885=) c.3060C= (p.Pro1020=) | |
15 | g.22903735G>T | CA488526429 | CYFIP1 | c.2553C>A (p.Pro851=) c.2559C>A (p.Pro853=) c.1266C>A (p.Pro422=) n.1706C>A c.2958C>A (p.Pro986=) c.2661C>A (p.Pro887=) c.879C>A (p.Pro293=) c.2469C>A (p.Pro823=) c.2193C>A (p.Pro731=) c.2457C>A (p.Pro819=) c.2655C>A (p.Pro885=) c.3060C>A (p.Pro1020=) | |
15 | g.22903736G>A | CA391334236 | CYFIP1 | c.2552C>T (p.Pro851Leu) c.2558C>T (p.Pro853Leu) c.1265C>T (p.Pro422Leu) n.1705C>T c.2957C>T (p.Pro986Leu) c.2660C>T (p.Pro887Leu) c.878C>T (p.Pro293Leu) c.2468C>T (p.Pro823Leu) c.2192C>T (p.Pro731Leu) c.2456C>T (p.Pro819Leu) c.2654C>T (p.Pro885Leu) c.3059C>T (p.Pro1020Leu) | gnomAD v4 |
15 | g.22903736G>C | CA7425125 | CYFIP1 | c.2552C>G (p.Pro851Arg) c.2558C>G (p.Pro853Arg) c.1265C>G (p.Pro422Arg) n.1705C>G c.2957C>G (p.Pro986Arg) c.2660C>G (p.Pro887Arg) c.878C>G (p.Pro293Arg) c.2468C>G (p.Pro823Arg) c.2192C>G (p.Pro731Arg) c.2456C>G (p.Pro819Arg) c.2654C>G (p.Pro885Arg) c.3059C>G (p.Pro1020Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.22903736G= | CA2163977950 | CYFIP1 | c.2552C= (p.Pro851=) c.2558C= (p.Pro853=) c.1265C= (p.Pro422=) n.1705C= c.2957C= (p.Pro986=) c.2660C= (p.Pro887=) c.878C= (p.Pro293=) c.2468C= (p.Pro823=) c.2192C= (p.Pro731=) c.2456C= (p.Pro819=) c.2654C= (p.Pro885=) c.3059C= (p.Pro1020=) | |
15 | g.22903736G>T | CA391334234 | CYFIP1 | c.2552C>A (p.Pro851His) c.2558C>A (p.Pro853His) c.1265C>A (p.Pro422His) n.1705C>A c.2957C>A (p.Pro986His) c.2660C>A (p.Pro887His) c.878C>A (p.Pro293His) c.2468C>A (p.Pro823His) c.2192C>A (p.Pro731His) c.2456C>A (p.Pro819His) c.2654C>A (p.Pro885His) c.3059C>A (p.Pro1020His) | |
15 | g.22903737G>A | CA391334238 | CYFIP1 | c.2551C>T (p.Pro851Ser) c.2557C>T (p.Pro853Ser) c.1264C>T (p.Pro422Ser) n.1704C>T c.2956C>T (p.Pro986Ser) c.2659C>T (p.Pro887Ser) c.877C>T (p.Pro293Ser) c.2467C>T (p.Pro823Ser) c.2191C>T (p.Pro731Ser) c.2455C>T (p.Pro819Ser) c.2653C>T (p.Pro885Ser) c.3058C>T (p.Pro1020Ser) | gnomAD v4 |
15 | g.22903737G>C | CA391334240 | CYFIP1 | c.2551C>G (p.Pro851Ala) c.2557C>G (p.Pro853Ala) c.1264C>G (p.Pro422Ala) n.1704C>G c.2956C>G (p.Pro986Ala) c.2659C>G (p.Pro887Ala) c.877C>G (p.Pro293Ala) c.2467C>G (p.Pro823Ala) c.2191C>G (p.Pro731Ala) c.2455C>G (p.Pro819Ala) c.2653C>G (p.Pro885Ala) c.3058C>G (p.Pro1020Ala) | |
15 | g.22903737G>T | CA391334241 | CYFIP1 | c.2551C>A (p.Pro851Thr) c.2557C>A (p.Pro853Thr) c.1264C>A (p.Pro422Thr) n.1704C>A c.2956C>A (p.Pro986Thr) c.2659C>A (p.Pro887Thr) c.877C>A (p.Pro293Thr) c.2467C>A (p.Pro823Thr) c.2191C>A (p.Pro731Thr) c.2455C>A (p.Pro819Thr) c.2653C>A (p.Pro885Thr) c.3058C>A (p.Pro1020Thr) | |
15 | g.22903738C>A | CA488526433 | CYFIP1 | c.2550G>T (p.Leu850=) c.2556G>T (p.Leu852=) c.1263G>T (p.Leu421=) n.1703G>T c.2955G>T (p.Leu985=) c.2658G>T (p.Leu886=) c.876G>T (p.Leu292=) c.2466G>T (p.Leu822=) c.2190G>T (p.Leu730=) c.2454G>T (p.Leu818=) c.2652G>T (p.Leu884=) c.3057G>T (p.Leu1019=) | |
15 | g.22903738C>G | CA488526431 | CYFIP1 | c.2550G>C (p.Leu850=) c.2556G>C (p.Leu852=) c.1263G>C (p.Leu421=) n.1703G>C c.2955G>C (p.Leu985=) c.2658G>C (p.Leu886=) c.876G>C (p.Leu292=) c.2466G>C (p.Leu822=) c.2190G>C (p.Leu730=) c.2454G>C (p.Leu818=) c.2652G>C (p.Leu884=) c.3057G>C (p.Leu1019=) | |
15 | g.22903738C>T | CA488526432 | CYFIP1 | c.2550G>A (p.Leu850=) c.2556G>A (p.Leu852=) c.1263G>A (p.Leu421=) n.1703G>A c.2955G>A (p.Leu985=) c.2658G>A (p.Leu886=) c.876G>A (p.Leu292=) c.2466G>A (p.Leu822=) c.2190G>A (p.Leu730=) c.2454G>A (p.Leu818=) c.2652G>A (p.Leu884=) c.3057G>A (p.Leu1019=) | |
15 | g.22903739A>C | CA391334243 | CYFIP1 | c.2549T>G (p.Leu850Arg) c.2555T>G (p.Leu852Arg) c.1262T>G (p.Leu421Arg) n.1702T>G c.2954T>G (p.Leu985Arg) c.2657T>G (p.Leu886Arg) c.875T>G (p.Leu292Arg) c.2465T>G (p.Leu822Arg) c.2189T>G (p.Leu730Arg) c.2453T>G (p.Leu818Arg) c.2651T>G (p.Leu884Arg) c.3056T>G (p.Leu1019Arg) | |
15 | g.22903739A>G | CA391334245 | CYFIP1 | c.2549T>C (p.Leu850Pro) c.2555T>C (p.Leu852Pro) c.1262T>C (p.Leu421Pro) n.1702T>C c.2954T>C (p.Leu985Pro) c.2657T>C (p.Leu886Pro) c.875T>C (p.Leu292Pro) c.2465T>C (p.Leu822Pro) c.2189T>C (p.Leu730Pro) c.2453T>C (p.Leu818Pro) c.2651T>C (p.Leu884Pro) c.3056T>C (p.Leu1019Pro) | |
15 | g.22903739A>T | CA391334247 | CYFIP1 | c.2549T>A (p.Leu850Gln) c.2555T>A (p.Leu852Gln) c.1262T>A (p.Leu421Gln) n.1702T>A c.2954T>A (p.Leu985Gln) c.2657T>A (p.Leu886Gln) c.875T>A (p.Leu292Gln) c.2465T>A (p.Leu822Gln) c.2189T>A (p.Leu730Gln) c.2453T>A (p.Leu818Gln) c.2651T>A (p.Leu884Gln) c.3056T>A (p.Leu1019Gln) | |
15 | g.22903740G>A | CA488526434 | CYFIP1 | c.2548C>T (p.Leu850=) c.2554C>T (p.Leu852=) c.1261C>T (p.Leu421=) n.1701C>T c.2953C>T (p.Leu985=) c.2656C>T (p.Leu886=) c.874C>T (p.Leu292=) c.2464C>T (p.Leu822=) c.2188C>T (p.Leu730=) c.2452C>T (p.Leu818=) c.2650C>T (p.Leu884=) c.3055C>T (p.Leu1019=) | gnomAD v4 |
15 | g.22903740G>C | CA391334249 | CYFIP1 | c.2548C>G (p.Leu850Val) c.2554C>G (p.Leu852Val) c.1261C>G (p.Leu421Val) n.1701C>G c.2953C>G (p.Leu985Val) c.2656C>G (p.Leu886Val) c.874C>G (p.Leu292Val) c.2464C>G (p.Leu822Val) c.2188C>G (p.Leu730Val) c.2452C>G (p.Leu818Val) c.2650C>G (p.Leu884Val) c.3055C>G (p.Leu1019Val) | |
15 | g.22903740G>T | CA391334250 | CYFIP1 | c.2548C>A (p.Leu850Met) c.2554C>A (p.Leu852Met) c.1261C>A (p.Leu421Met) n.1701C>A c.2953C>A (p.Leu985Met) c.2656C>A (p.Leu886Met) c.874C>A (p.Leu292Met) c.2464C>A (p.Leu822Met) c.2188C>A (p.Leu730Met) c.2452C>A (p.Leu818Met) c.2650C>A (p.Leu884Met) c.3055C>A (p.Leu1019Met) | |
15 | g.22903741G>A | CA488526435 | CYFIP1 | c.2547C>T (p.Phe849=) c.2553C>T (p.Phe851=) c.1260C>T (p.Phe420=) n.1700C>T c.2952C>T (p.Phe984=) c.2655C>T (p.Phe885=) c.873C>T (p.Phe291=) c.2463C>T (p.Phe821=) c.2187C>T (p.Phe729=) c.2451C>T (p.Phe817=) c.2649C>T (p.Phe883=) c.3054C>T (p.Phe1018=) | dbSNP gnomAD v4 |
15 | g.22903741G>C | CA391334251 | CYFIP1 | c.2547C>G (p.Phe849Leu) c.2553C>G (p.Phe851Leu) c.1260C>G (p.Phe420Leu) n.1700C>G c.2952C>G (p.Phe984Leu) c.2655C>G (p.Phe885Leu) c.873C>G (p.Phe291Leu) c.2463C>G (p.Phe821Leu) c.2187C>G (p.Phe729Leu) c.2451C>G (p.Phe817Leu) c.2649C>G (p.Phe883Leu) c.3054C>G (p.Phe1018Leu) | |
15 | g.22903741G= | CA2163977952 | CYFIP1 | c.2547C= (p.Phe849=) c.2553C= (p.Phe851=) c.1260C= (p.Phe420=) n.1700C= c.2952C= (p.Phe984=) c.2655C= (p.Phe885=) c.873C= (p.Phe291=) c.2463C= (p.Phe821=) c.2187C= (p.Phe729=) c.2451C= (p.Phe817=) c.2649C= (p.Phe883=) c.3054C= (p.Phe1018=) | |
15 | g.22903741G>T | CA391334253 | CYFIP1 | c.2547C>A (p.Phe849Leu) c.2553C>A (p.Phe851Leu) c.1260C>A (p.Phe420Leu) n.1700C>A c.2952C>A (p.Phe984Leu) c.2655C>A (p.Phe885Leu) c.873C>A (p.Phe291Leu) c.2463C>A (p.Phe821Leu) c.2187C>A (p.Phe729Leu) c.2451C>A (p.Phe817Leu) c.2649C>A (p.Phe883Leu) c.3054C>A (p.Phe1018Leu) | |
15 | g.22903742A>C | CA391334255 | CYFIP1 | c.2546T>G (p.Phe849Cys) c.2552T>G (p.Phe851Cys) c.1259T>G (p.Phe420Cys) n.1699T>G c.2951T>G (p.Phe984Cys) c.2654T>G (p.Phe885Cys) c.872T>G (p.Phe291Cys) c.2462T>G (p.Phe821Cys) c.2186T>G (p.Phe729Cys) c.2450T>G (p.Phe817Cys) c.2648T>G (p.Phe883Cys) c.3053T>G (p.Phe1018Cys) | |
15 | g.22903742A>G | CA391334257 | CYFIP1 | c.2546T>C (p.Phe849Ser) c.2552T>C (p.Phe851Ser) c.1259T>C (p.Phe420Ser) n.1699T>C c.2951T>C (p.Phe984Ser) c.2654T>C (p.Phe885Ser) c.872T>C (p.Phe291Ser) c.2462T>C (p.Phe821Ser) c.2186T>C (p.Phe729Ser) c.2450T>C (p.Phe817Ser) c.2648T>C (p.Phe883Ser) c.3053T>C (p.Phe1018Ser) | |
15 | g.22903742A>T | CA391334258 | CYFIP1 | c.2546T>A (p.Phe849Tyr) c.2552T>A (p.Phe851Tyr) c.1259T>A (p.Phe420Tyr) n.1699T>A c.2951T>A (p.Phe984Tyr) c.2654T>A (p.Phe885Tyr) c.872T>A (p.Phe291Tyr) c.2462T>A (p.Phe821Tyr) c.2186T>A (p.Phe729Tyr) c.2450T>A (p.Phe817Tyr) c.2648T>A (p.Phe883Tyr) c.3053T>A (p.Phe1018Tyr) | |
15 | g.22903743A>C | CA391334260 | CYFIP1 | c.2545T>G (p.Phe849Val) c.2551T>G (p.Phe851Val) c.1258T>G (p.Phe420Val) n.1698T>G c.2950T>G (p.Phe984Val) c.2653T>G (p.Phe885Val) c.871T>G (p.Phe291Val) c.2461T>G (p.Phe821Val) c.2185T>G (p.Phe729Val) c.2449T>G (p.Phe817Val) c.2647T>G (p.Phe883Val) c.3052T>G (p.Phe1018Val) | |
15 | g.22903743A>G | CA391334264 | CYFIP1 | c.2545T>C (p.Phe849Leu) c.2551T>C (p.Phe851Leu) c.1258T>C (p.Phe420Leu) n.1698T>C c.2950T>C (p.Phe984Leu) c.2653T>C (p.Phe885Leu) c.871T>C (p.Phe291Leu) c.2461T>C (p.Phe821Leu) c.2185T>C (p.Phe729Leu) c.2449T>C (p.Phe817Leu) c.2647T>C (p.Phe883Leu) c.3052T>C (p.Phe1018Leu) | |
15 | g.22903743A>T | CA391334262 | CYFIP1 | c.2545T>A (p.Phe849Ile) c.2551T>A (p.Phe851Ile) c.1258T>A (p.Phe420Ile) n.1698T>A c.2950T>A (p.Phe984Ile) c.2653T>A (p.Phe885Ile) c.871T>A (p.Phe291Ile) c.2461T>A (p.Phe821Ile) c.2185T>A (p.Phe729Ile) c.2449T>A (p.Phe817Ile) c.2647T>A (p.Phe883Ile) c.3052T>A (p.Phe1018Ile) | |
15 | g.22903744G>A | CA488526436 | CYFIP1 | c.2544C>T (p.Asp848=) c.2550C>T (p.Asp850=) c.1257C>T (p.Asp419=) n.1697C>T c.2949C>T (p.Asp983=) c.2652C>T (p.Asp884=) c.870C>T (p.Asp290=) c.2460C>T (p.Asp820=) c.2184C>T (p.Asp728=) c.2448C>T (p.Asp816=) c.2646C>T (p.Asp882=) c.3051C>T (p.Asp1017=) | |
15 | g.22903744G>C | CA391334266 | CYFIP1 | c.2544C>G (p.Asp848Glu) c.2550C>G (p.Asp850Glu) c.1257C>G (p.Asp419Glu) n.1697C>G c.2949C>G (p.Asp983Glu) c.2652C>G (p.Asp884Glu) c.870C>G (p.Asp290Glu) c.2460C>G (p.Asp820Glu) c.2184C>G (p.Asp728Glu) c.2448C>G (p.Asp816Glu) c.2646C>G (p.Asp882Glu) c.3051C>G (p.Asp1017Glu) | |
15 | g.22903744G>T | CA391334267 | CYFIP1 | c.2544C>A (p.Asp848Glu) c.2550C>A (p.Asp850Glu) c.1257C>A (p.Asp419Glu) n.1697C>A c.2949C>A (p.Asp983Glu) c.2652C>A (p.Asp884Glu) c.870C>A (p.Asp290Glu) c.2460C>A (p.Asp820Glu) c.2184C>A (p.Asp728Glu) c.2448C>A (p.Asp816Glu) c.2646C>A (p.Asp882Glu) c.3051C>A (p.Asp1017Glu) | |
15 | g.22903745T>A | CA391334270 | CYFIP1 | c.2543A>T (p.Asp848Val) c.2549A>T (p.Asp850Val) c.1256A>T (p.Asp419Val) n.1696A>T c.2948A>T (p.Asp983Val) c.2651A>T (p.Asp884Val) c.869A>T (p.Asp290Val) c.2459A>T (p.Asp820Val) c.2183A>T (p.Asp728Val) c.2447A>T (p.Asp816Val) c.2645A>T (p.Asp882Val) c.3050A>T (p.Asp1017Val) | |
15 | g.22903745T>C | CA391334271 | CYFIP1 | c.2543A>G (p.Asp848Gly) c.2549A>G (p.Asp850Gly) c.1256A>G (p.Asp419Gly) n.1696A>G c.2948A>G (p.Asp983Gly) c.2651A>G (p.Asp884Gly) c.869A>G (p.Asp290Gly) c.2459A>G (p.Asp820Gly) c.2183A>G (p.Asp728Gly) c.2447A>G (p.Asp816Gly) c.2645A>G (p.Asp882Gly) c.3050A>G (p.Asp1017Gly) | |
15 | g.22903745T>G | CA391334273 | CYFIP1 | c.2543A>C (p.Asp848Ala) c.2549A>C (p.Asp850Ala) c.1256A>C (p.Asp419Ala) n.1696A>C c.2948A>C (p.Asp983Ala) c.2651A>C (p.Asp884Ala) c.869A>C (p.Asp290Ala) c.2459A>C (p.Asp820Ala) c.2183A>C (p.Asp728Ala) c.2447A>C (p.Asp816Ala) c.2645A>C (p.Asp882Ala) c.3050A>C (p.Asp1017Ala) | |
15 | g.22903746C>A | CA391334275 | CYFIP1 | c.2542G>T (p.Asp848Tyr) c.2548G>T (p.Asp850Tyr) c.1255G>T (p.Asp419Tyr) n.1695G>T c.2947G>T (p.Asp983Tyr) c.2650G>T (p.Asp884Tyr) c.868G>T (p.Asp290Tyr) c.2458G>T (p.Asp820Tyr) c.2182G>T (p.Asp728Tyr) c.2446G>T (p.Asp816Tyr) c.2644G>T (p.Asp882Tyr) c.3049G>T (p.Asp1017Tyr) | |
15 | g.22903746C>G | CA391334277 | CYFIP1 | c.2542G>C (p.Asp848His) c.2548G>C (p.Asp850His) c.1255G>C (p.Asp419His) n.1695G>C c.2947G>C (p.Asp983His) c.2650G>C (p.Asp884His) c.868G>C (p.Asp290His) c.2458G>C (p.Asp820His) c.2182G>C (p.Asp728His) c.2446G>C (p.Asp816His) c.2644G>C (p.Asp882His) c.3049G>C (p.Asp1017His) | |
15 | g.22903746C>T | CA391334278 | CYFIP1 | c.2542G>A (p.Asp848Asn) c.2548G>A (p.Asp850Asn) c.1255G>A (p.Asp419Asn) n.1695G>A c.2947G>A (p.Asp983Asn) c.2650G>A (p.Asp884Asn) c.868G>A (p.Asp290Asn) c.2458G>A (p.Asp820Asn) c.2182G>A (p.Asp728Asn) c.2446G>A (p.Asp816Asn) c.2644G>A (p.Asp882Asn) c.3049G>A (p.Asp1017Asn) | |
15 | g.22903747A>C | CA391334281 | CYFIP1 | c.2541T>G (p.Tyr847Ter) c.2547T>G (p.Tyr849Ter) c.1254T>G (p.Tyr418Ter) n.1694T>G c.2946T>G (p.Tyr982Ter) c.2649T>G (p.Tyr883Ter) c.867T>G (p.Tyr289Ter) c.2457T>G (p.Tyr819Ter) c.2181T>G (p.Tyr727Ter) c.2445T>G (p.Tyr815Ter) c.2643T>G (p.Tyr881Ter) c.3048T>G (p.Tyr1016Ter) | |
15 | g.22903747A>G | CA488526437 | CYFIP1 | c.2541T>C (p.Tyr847=) c.2547T>C (p.Tyr849=) c.1254T>C (p.Tyr418=) n.1694T>C c.2946T>C (p.Tyr982=) c.2649T>C (p.Tyr883=) c.867T>C (p.Tyr289=) c.2457T>C (p.Tyr819=) c.2181T>C (p.Tyr727=) c.2445T>C (p.Tyr815=) c.2643T>C (p.Tyr881=) c.3048T>C (p.Tyr1016=) | |
15 | g.22903747A>T | CA391334282 | CYFIP1 | c.2541T>A (p.Tyr847Ter) c.2547T>A (p.Tyr849Ter) c.1254T>A (p.Tyr418Ter) n.1694T>A c.2946T>A (p.Tyr982Ter) c.2649T>A (p.Tyr883Ter) c.867T>A (p.Tyr289Ter) c.2457T>A (p.Tyr819Ter) c.2181T>A (p.Tyr727Ter) c.2445T>A (p.Tyr815Ter) c.2643T>A (p.Tyr881Ter) c.3048T>A (p.Tyr1016Ter) | |
15 | g.22903748T>A | CA391334284 | CYFIP1 | c.2540A>T (p.Tyr847Phe) c.2546A>T (p.Tyr849Phe) c.1253A>T (p.Tyr418Phe) n.1693A>T c.2945A>T (p.Tyr982Phe) c.2648A>T (p.Tyr883Phe) c.866A>T (p.Tyr289Phe) c.2456A>T (p.Tyr819Phe) c.2180A>T (p.Tyr727Phe) c.2444A>T (p.Tyr815Phe) c.2642A>T (p.Tyr881Phe) c.3047A>T (p.Tyr1016Phe) | |
15 | g.22903748T>C | CA391334285 | CYFIP1 | c.2540A>G (p.Tyr847Cys) c.2546A>G (p.Tyr849Cys) c.1253A>G (p.Tyr418Cys) n.1693A>G c.2945A>G (p.Tyr982Cys) c.2648A>G (p.Tyr883Cys) c.866A>G (p.Tyr289Cys) c.2456A>G (p.Tyr819Cys) c.2180A>G (p.Tyr727Cys) c.2444A>G (p.Tyr815Cys) c.2642A>G (p.Tyr881Cys) c.3047A>G (p.Tyr1016Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903748T>G | CA391334288 | CYFIP1 | c.2540A>C (p.Tyr847Ser) c.2546A>C (p.Tyr849Ser) c.1253A>C (p.Tyr418Ser) n.1693A>C c.2945A>C (p.Tyr982Ser) c.2648A>C (p.Tyr883Ser) c.866A>C (p.Tyr289Ser) c.2456A>C (p.Tyr819Ser) c.2180A>C (p.Tyr727Ser) c.2444A>C (p.Tyr815Ser) c.2642A>C (p.Tyr881Ser) c.3047A>C (p.Tyr1016Ser) | |
15 | g.22903748T= | CA2163977954 | CYFIP1 | c.2540A= (p.Tyr847=) c.2546A= (p.Tyr849=) c.1253A= (p.Tyr418=) n.1693A= c.2945A= (p.Tyr982=) c.2648A= (p.Tyr883=) c.866A= (p.Tyr289=) c.2456A= (p.Tyr819=) c.2180A= (p.Tyr727=) c.2444A= (p.Tyr815=) c.2642A= (p.Tyr881=) c.3047A= (p.Tyr1016=) | |
15 | g.22903749A>C | CA391334294 | CYFIP1 | c.2539T>G (p.Tyr847Asp) c.2545T>G (p.Tyr849Asp) c.1252T>G (p.Tyr418Asp) n.1692T>G c.2944T>G (p.Tyr982Asp) c.2647T>G (p.Tyr883Asp) c.865T>G (p.Tyr289Asp) c.2455T>G (p.Tyr819Asp) c.2179T>G (p.Tyr727Asp) c.2443T>G (p.Tyr815Asp) c.2641T>G (p.Tyr881Asp) c.3046T>G (p.Tyr1016Asp) | |
15 | g.22903749A>G | CA391334290 | CYFIP1 | c.2539T>C (p.Tyr847His) c.2545T>C (p.Tyr849His) c.1252T>C (p.Tyr418His) n.1692T>C c.2944T>C (p.Tyr982His) c.2647T>C (p.Tyr883His) c.865T>C (p.Tyr289His) c.2455T>C (p.Tyr819His) c.2179T>C (p.Tyr727His) c.2443T>C (p.Tyr815His) c.2641T>C (p.Tyr881His) c.3046T>C (p.Tyr1016His) | |
15 | g.22903749A>T | CA391334291 | CYFIP1 | c.2539T>A (p.Tyr847Asn) c.2545T>A (p.Tyr849Asn) c.1252T>A (p.Tyr418Asn) n.1692T>A c.2944T>A (p.Tyr982Asn) c.2647T>A (p.Tyr883Asn) c.865T>A (p.Tyr289Asn) c.2455T>A (p.Tyr819Asn) c.2179T>A (p.Tyr727Asn) c.2443T>A (p.Tyr815Asn) c.2641T>A (p.Tyr881Asn) c.3046T>A (p.Tyr1016Asn) | |
15 | g.22903750G>A | CA488526438 | CYFIP1 | c.2538C>T (p.Asn846=) c.2544C>T (p.Asn848=) c.1251C>T (p.Asn417=) n.1691C>T c.2943C>T (p.Asn981=) c.2646C>T (p.Asn882=) c.864C>T (p.Asn288=) c.2454C>T (p.Asn818=) c.2178C>T (p.Asn726=) c.2442C>T (p.Asn814=) c.2640C>T (p.Asn880=) c.3045C>T (p.Asn1015=) | |
15 | g.22903750G>C | CA391334296 | CYFIP1 | c.2538C>G (p.Asn846Lys) c.2544C>G (p.Asn848Lys) c.1251C>G (p.Asn417Lys) n.1691C>G c.2943C>G (p.Asn981Lys) c.2646C>G (p.Asn882Lys) c.864C>G (p.Asn288Lys) c.2454C>G (p.Asn818Lys) c.2178C>G (p.Asn726Lys) c.2442C>G (p.Asn814Lys) c.2640C>G (p.Asn880Lys) c.3045C>G (p.Asn1015Lys) | |
15 | g.22903750G>T | CA391334297 | CYFIP1 | c.2538C>A (p.Asn846Lys) c.2544C>A (p.Asn848Lys) c.1251C>A (p.Asn417Lys) n.1691C>A c.2943C>A (p.Asn981Lys) c.2646C>A (p.Asn882Lys) c.864C>A (p.Asn288Lys) c.2454C>A (p.Asn818Lys) c.2178C>A (p.Asn726Lys) c.2442C>A (p.Asn814Lys) c.2640C>A (p.Asn880Lys) c.3045C>A (p.Asn1015Lys) | |
15 | g.22903751T>A | CA391334299 | CYFIP1 | c.2537A>T (p.Asn846Ile) c.2543A>T (p.Asn848Ile) c.1250A>T (p.Asn417Ile) n.1690A>T c.2942A>T (p.Asn981Ile) c.2645A>T (p.Asn882Ile) c.863A>T (p.Asn288Ile) c.2453A>T (p.Asn818Ile) c.2177A>T (p.Asn726Ile) c.2441A>T (p.Asn814Ile) c.2639A>T (p.Asn880Ile) c.3044A>T (p.Asn1015Ile) | |
15 | g.22903751T>C | CA391334300 | CYFIP1 | c.2537A>G (p.Asn846Ser) c.2543A>G (p.Asn848Ser) c.1250A>G (p.Asn417Ser) n.1690A>G c.2942A>G (p.Asn981Ser) c.2645A>G (p.Asn882Ser) c.863A>G (p.Asn288Ser) c.2453A>G (p.Asn818Ser) c.2177A>G (p.Asn726Ser) c.2441A>G (p.Asn814Ser) c.2639A>G (p.Asn880Ser) c.3044A>G (p.Asn1015Ser) | gnomAD v4 |
15 | g.22903751T>G | CA391334301 | CYFIP1 | c.2537A>C (p.Asn846Thr) c.2543A>C (p.Asn848Thr) c.1250A>C (p.Asn417Thr) n.1690A>C c.2942A>C (p.Asn981Thr) c.2645A>C (p.Asn882Thr) c.863A>C (p.Asn288Thr) c.2453A>C (p.Asn818Thr) c.2177A>C (p.Asn726Thr) c.2441A>C (p.Asn814Thr) c.2639A>C (p.Asn880Thr) c.3044A>C (p.Asn1015Thr) | |
15 | g.22903752T>A | CA391334302 | CYFIP1 | c.2536A>T (p.Asn846Tyr) c.2542A>T (p.Asn848Tyr) c.1249A>T (p.Asn417Tyr) n.1689A>T c.2941A>T (p.Asn981Tyr) c.2644A>T (p.Asn882Tyr) c.862A>T (p.Asn288Tyr) c.2452A>T (p.Asn818Tyr) c.2176A>T (p.Asn726Tyr) c.2440A>T (p.Asn814Tyr) c.2638A>T (p.Asn880Tyr) c.3043A>T (p.Asn1015Tyr) | |
15 | g.22903752T>C | CA391334304 | CYFIP1 | c.2536A>G (p.Asn846Asp) c.2542A>G (p.Asn848Asp) c.1249A>G (p.Asn417Asp) n.1689A>G c.2941A>G (p.Asn981Asp) c.2644A>G (p.Asn882Asp) c.862A>G (p.Asn288Asp) c.2452A>G (p.Asn818Asp) c.2176A>G (p.Asn726Asp) c.2440A>G (p.Asn814Asp) c.2638A>G (p.Asn880Asp) c.3043A>G (p.Asn1015Asp) | |
15 | g.22903752T>G | CA391334305 | CYFIP1 | c.2536A>C (p.Asn846His) c.2542A>C (p.Asn848His) c.1249A>C (p.Asn417His) n.1689A>C c.2941A>C (p.Asn981His) c.2644A>C (p.Asn882His) c.862A>C (p.Asn288His) c.2452A>C (p.Asn818His) c.2176A>C (p.Asn726His) c.2440A>C (p.Asn814His) c.2638A>C (p.Asn880His) c.3043A>C (p.Asn1015His) | |
15 | g.22903753G>A | CA488526440 | CYFIP1 | c.2535C>T (p.Leu845=) c.2541C>T (p.Leu847=) c.1248C>T (p.Leu416=) n.1688C>T c.2940C>T (p.Leu980=) c.2643C>T (p.Leu881=) c.861C>T (p.Leu287=) c.2451C>T (p.Leu817=) c.2175C>T (p.Leu725=) c.2439C>T (p.Leu813=) c.2637C>T (p.Leu879=) c.3042C>T (p.Leu1014=) | |
15 | g.22903753G>C | CA488526441 | CYFIP1 | c.2535C>G (p.Leu845=) c.2541C>G (p.Leu847=) c.1248C>G (p.Leu416=) n.1688C>G c.2940C>G (p.Leu980=) c.2643C>G (p.Leu881=) c.861C>G (p.Leu287=) c.2451C>G (p.Leu817=) c.2175C>G (p.Leu725=) c.2439C>G (p.Leu813=) c.2637C>G (p.Leu879=) c.3042C>G (p.Leu1014=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903753G= | CA2163977958 | CYFIP1 | c.2535C= (p.Leu845=) c.2541C= (p.Leu847=) c.1248C= (p.Leu416=) n.1688C= c.2940C= (p.Leu980=) c.2643C= (p.Leu881=) c.861C= (p.Leu287=) c.2451C= (p.Leu817=) c.2175C= (p.Leu725=) c.2439C= (p.Leu813=) c.2637C= (p.Leu879=) c.3042C= (p.Leu1014=) | |
15 | g.22903753G>T | CA488526439 | CYFIP1 | c.2535C>A (p.Leu845=) c.2541C>A (p.Leu847=) c.1248C>A (p.Leu416=) n.1688C>A c.2940C>A (p.Leu980=) c.2643C>A (p.Leu881=) c.861C>A (p.Leu287=) c.2451C>A (p.Leu817=) c.2175C>A (p.Leu725=) c.2439C>A (p.Leu813=) c.2637C>A (p.Leu879=) c.3042C>A (p.Leu1014=) | |
15 | g.22903754A>C | CA391334308 | CYFIP1 | c.2534T>G (p.Leu845Arg) c.2540T>G (p.Leu847Arg) c.1247T>G (p.Leu416Arg) n.1687T>G c.2939T>G (p.Leu980Arg) c.2642T>G (p.Leu881Arg) c.860T>G (p.Leu287Arg) c.2450T>G (p.Leu817Arg) c.2174T>G (p.Leu725Arg) c.2438T>G (p.Leu813Arg) c.2636T>G (p.Leu879Arg) c.3041T>G (p.Leu1014Arg) | |
15 | g.22903754A>G | CA391334310 | CYFIP1 | c.2534T>C (p.Leu845Pro) c.2540T>C (p.Leu847Pro) c.1247T>C (p.Leu416Pro) n.1687T>C c.2939T>C (p.Leu980Pro) c.2642T>C (p.Leu881Pro) c.860T>C (p.Leu287Pro) c.2450T>C (p.Leu817Pro) c.2174T>C (p.Leu725Pro) c.2438T>C (p.Leu813Pro) c.2636T>C (p.Leu879Pro) c.3041T>C (p.Leu1014Pro) | gnomAD v4 |
15 | g.22903754A>T | CA391334311 | CYFIP1 | c.2534T>A (p.Leu845His) c.2540T>A (p.Leu847His) c.1247T>A (p.Leu416His) n.1687T>A c.2939T>A (p.Leu980His) c.2642T>A (p.Leu881His) c.860T>A (p.Leu287His) c.2450T>A (p.Leu817His) c.2174T>A (p.Leu725His) c.2438T>A (p.Leu813His) c.2636T>A (p.Leu879His) c.3041T>A (p.Leu1014His) | |
15 | g.22903755G>A | CA391334315 | CYFIP1 | c.2533C>T (p.Leu845Phe) c.2539C>T (p.Leu847Phe) c.1246C>T (p.Leu416Phe) n.1686C>T c.2938C>T (p.Leu980Phe) c.2641C>T (p.Leu881Phe) c.859C>T (p.Leu287Phe) c.2449C>T (p.Leu817Phe) c.2173C>T (p.Leu725Phe) c.2437C>T (p.Leu813Phe) c.2635C>T (p.Leu879Phe) c.3040C>T (p.Leu1014Phe) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903755G>C | CA391334314 | CYFIP1 | c.2533C>G (p.Leu845Val) c.2539C>G (p.Leu847Val) c.1246C>G (p.Leu416Val) n.1686C>G c.2938C>G (p.Leu980Val) c.2641C>G (p.Leu881Val) c.859C>G (p.Leu287Val) c.2449C>G (p.Leu817Val) c.2173C>G (p.Leu725Val) c.2437C>G (p.Leu813Val) c.2635C>G (p.Leu879Val) c.3040C>G (p.Leu1014Val) | |
15 | g.22903755G= | CA2163977962 | CYFIP1 | c.2533C= (p.Leu845=) c.2539C= (p.Leu847=) c.1246C= (p.Leu416=) n.1686C= c.2938C= (p.Leu980=) c.2641C= (p.Leu881=) c.859C= (p.Leu287=) c.2449C= (p.Leu817=) c.2173C= (p.Leu725=) c.2437C= (p.Leu813=) c.2635C= (p.Leu879=) c.3040C= (p.Leu1014=) | |
15 | g.22903755G>T | CA391334313 | CYFIP1 | c.2533C>A (p.Leu845Ile) c.2539C>A (p.Leu847Ile) c.1246C>A (p.Leu416Ile) n.1686C>A c.2938C>A (p.Leu980Ile) c.2641C>A (p.Leu881Ile) c.859C>A (p.Leu287Ile) c.2449C>A (p.Leu817Ile) c.2173C>A (p.Leu725Ile) c.2437C>A (p.Leu813Ile) c.2635C>A (p.Leu879Ile) c.3040C>A (p.Leu1014Ile) | |
15 | g.22903756C>A | CA391334317 | CYFIP1 | c.2532G>T (p.Glu844Asp) c.2538G>T (p.Glu846Asp) c.1245G>T (p.Glu415Asp) n.1685G>T c.2937G>T (p.Glu979Asp) c.2640G>T (p.Glu880Asp) c.858G>T (p.Glu286Asp) c.2448G>T (p.Glu816Asp) c.2172G>T (p.Glu724Asp) c.2436G>T (p.Glu812Asp) c.2634G>T (p.Glu878Asp) c.3039G>T (p.Glu1013Asp) | |
15 | g.22903756C>G | CA391334318 | CYFIP1 | c.2532G>C (p.Glu844Asp) c.2538G>C (p.Glu846Asp) c.1245G>C (p.Glu415Asp) n.1685G>C c.2937G>C (p.Glu979Asp) c.2640G>C (p.Glu880Asp) c.858G>C (p.Glu286Asp) c.2448G>C (p.Glu816Asp) c.2172G>C (p.Glu724Asp) c.2436G>C (p.Glu812Asp) c.2634G>C (p.Glu878Asp) c.3039G>C (p.Glu1013Asp) | |
15 | g.22903756C>T | CA488526442 | CYFIP1 | c.2532G>A (p.Glu844=) c.2538G>A (p.Glu846=) c.1245G>A (p.Glu415=) n.1685G>A c.2937G>A (p.Glu979=) c.2640G>A (p.Glu880=) c.858G>A (p.Glu286=) c.2448G>A (p.Glu816=) c.2172G>A (p.Glu724=) c.2436G>A (p.Glu812=) c.2634G>A (p.Glu878=) c.3039G>A (p.Glu1013=) | |
15 | g.22903757T>A | CA391334320 | CYFIP1 | c.2531A>T (p.Glu844Val) c.2537A>T (p.Glu846Val) c.1244A>T (p.Glu415Val) n.1684A>T c.2936A>T (p.Glu979Val) c.2639A>T (p.Glu880Val) c.857A>T (p.Glu286Val) c.2447A>T (p.Glu816Val) c.2171A>T (p.Glu724Val) c.2435A>T (p.Glu812Val) c.2633A>T (p.Glu878Val) c.3038A>T (p.Glu1013Val) | |
15 | g.22903757T>C | CA391334324 | CYFIP1 | c.2531A>G (p.Glu844Gly) c.2537A>G (p.Glu846Gly) c.1244A>G (p.Glu415Gly) n.1684A>G c.2936A>G (p.Glu979Gly) c.2639A>G (p.Glu880Gly) c.857A>G (p.Glu286Gly) c.2447A>G (p.Glu816Gly) c.2171A>G (p.Glu724Gly) c.2435A>G (p.Glu812Gly) c.2633A>G (p.Glu878Gly) c.3038A>G (p.Glu1013Gly) | |
15 | g.22903757T>G | CA391334322 | CYFIP1 | c.2531A>C (p.Glu844Ala) c.2537A>C (p.Glu846Ala) c.1244A>C (p.Glu415Ala) n.1684A>C c.2936A>C (p.Glu979Ala) c.2639A>C (p.Glu880Ala) c.857A>C (p.Glu286Ala) c.2447A>C (p.Glu816Ala) c.2171A>C (p.Glu724Ala) c.2435A>C (p.Glu812Ala) c.2633A>C (p.Glu878Ala) c.3038A>C (p.Glu1013Ala) | |
15 | g.22903758C>A | CA391334327 | CYFIP1 | c.2530G>T (p.Glu844Ter) c.2536G>T (p.Glu846Ter) c.1243G>T (p.Glu415Ter) n.929G>T n.1683G>T c.2935G>T (p.Glu979Ter) c.2638G>T (p.Glu880Ter) c.856G>T (p.Glu286Ter) c.2446G>T (p.Glu816Ter) c.2170G>T (p.Glu724Ter) c.2434G>T (p.Glu812Ter) c.2632G>T (p.Glu878Ter) c.3037G>T (p.Glu1013Ter) | |
15 | g.22903758C>G | CA391334329 | CYFIP1 | c.2530G>C (p.Glu844Gln) c.2536G>C (p.Glu846Gln) c.1243G>C (p.Glu415Gln) n.929G>C n.1683G>C c.2935G>C (p.Glu979Gln) c.2638G>C (p.Glu880Gln) c.856G>C (p.Glu286Gln) c.2446G>C (p.Glu816Gln) c.2170G>C (p.Glu724Gln) c.2434G>C (p.Glu812Gln) c.2632G>C (p.Glu878Gln) c.3037G>C (p.Glu1013Gln) | |
15 | g.22903758C>T | CA391334328 | CYFIP1 | c.2530G>A (p.Glu844Lys) c.2536G>A (p.Glu846Lys) c.1243G>A (p.Glu415Lys) n.929G>A n.1683G>A c.2935G>A (p.Glu979Lys) c.2638G>A (p.Glu880Lys) c.856G>A (p.Glu286Lys) c.2446G>A (p.Glu816Lys) c.2170G>A (p.Glu724Lys) c.2434G>A (p.Glu812Lys) c.2632G>A (p.Glu878Lys) c.3037G>A (p.Glu1013Lys) | |
15 | g.22903759C>A | CA391334331 | CYFIP1 | c.2529G>T (p.Trp843Cys) c.2535G>T (p.Trp845Cys) c.1242G>T (p.Trp414Cys) n.928G>T n.1682G>T c.2934G>T (p.Trp978Cys) c.2637G>T (p.Trp879Cys) c.855G>T (p.Trp285Cys) c.2445G>T (p.Trp815Cys) c.2169G>T (p.Trp723Cys) c.2433G>T (p.Trp811Cys) c.2631G>T (p.Trp877Cys) c.3036G>T (p.Trp1012Cys) | |
15 | g.22903759C>G | CA391334333 | CYFIP1 | c.2529G>C (p.Trp843Cys) c.2535G>C (p.Trp845Cys) c.1242G>C (p.Trp414Cys) n.928G>C n.1682G>C c.2934G>C (p.Trp978Cys) c.2637G>C (p.Trp879Cys) c.855G>C (p.Trp285Cys) c.2445G>C (p.Trp815Cys) c.2169G>C (p.Trp723Cys) c.2433G>C (p.Trp811Cys) c.2631G>C (p.Trp877Cys) c.3036G>C (p.Trp1012Cys) | |
15 | g.22903759C>T | CA391334335 | CYFIP1 | c.2529G>A (p.Trp843Ter) c.2535G>A (p.Trp845Ter) c.1242G>A (p.Trp414Ter) n.928G>A n.1682G>A c.2934G>A (p.Trp978Ter) c.2637G>A (p.Trp879Ter) c.855G>A (p.Trp285Ter) c.2445G>A (p.Trp815Ter) c.2169G>A (p.Trp723Ter) c.2433G>A (p.Trp811Ter) c.2631G>A (p.Trp877Ter) c.3036G>A (p.Trp1012Ter) | |
15 | g.22903760C>A | CA391334337 | CYFIP1 | c.2528G>T (p.Trp843Leu) c.2534G>T (p.Trp845Leu) c.1241G>T (p.Trp414Leu) n.927G>T n.1681G>T c.2933G>T (p.Trp978Leu) c.2636G>T (p.Trp879Leu) c.854G>T (p.Trp285Leu) c.2444G>T (p.Trp815Leu) c.2168G>T (p.Trp723Leu) c.2432G>T (p.Trp811Leu) c.2630G>T (p.Trp877Leu) c.3035G>T (p.Trp1012Leu) | |
15 | g.22903760C>G | CA391334340 | CYFIP1 | c.2528G>C (p.Trp843Ser) c.2534G>C (p.Trp845Ser) c.1241G>C (p.Trp414Ser) n.927G>C n.1681G>C c.2933G>C (p.Trp978Ser) c.2636G>C (p.Trp879Ser) c.854G>C (p.Trp285Ser) c.2444G>C (p.Trp815Ser) c.2168G>C (p.Trp723Ser) c.2432G>C (p.Trp811Ser) c.2630G>C (p.Trp877Ser) c.3035G>C (p.Trp1012Ser) | |
15 | g.22903760C>T | CA391334341 | CYFIP1 | c.2528G>A (p.Trp843Ter) c.2534G>A (p.Trp845Ter) c.1241G>A (p.Trp414Ter) n.927G>A n.1681G>A c.2933G>A (p.Trp978Ter) c.2636G>A (p.Trp879Ter) c.854G>A (p.Trp285Ter) c.2444G>A (p.Trp815Ter) c.2168G>A (p.Trp723Ter) c.2432G>A (p.Trp811Ter) c.2630G>A (p.Trp877Ter) c.3035G>A (p.Trp1012Ter) | |
15 | g.22903760_22903763delinsCAGA | CA2163977965 | CYFIP1 | c.2525_2528delinsTCTG (p.Phe842=) c.2531_2534delinsTCTG (p.Phe844=) c.1238_1241delinsTCTG (p.Phe413=) n.924_927delinsTCTG n.1678_1681delinsTCTG c.2930_2933delinsTCTG (p.Phe977=) c.2633_2636delinsTCTG (p.Phe878=) c.851_854delinsTCTG (p.Phe284=) c.2441_2444delinsTCTG (p.Phe814=) c.2165_2168delinsTCTG (p.Phe722=) c.2429_2432delinsTCTG (p.Phe810=) c.2627_2630delinsTCTG (p.Phe876=) c.3032_3035delinsTCTG (p.Phe1011=) | |
15 | g.22903761A>C | CA391334343 | CYFIP1 | c.2527T>G (p.Trp843Gly) c.2533T>G (p.Trp845Gly) c.1240T>G (p.Trp414Gly) n.926T>G n.1680T>G c.2932T>G (p.Trp978Gly) c.2635T>G (p.Trp879Gly) c.853T>G (p.Trp285Gly) c.2443T>G (p.Trp815Gly) c.2167T>G (p.Trp723Gly) c.2431T>G (p.Trp811Gly) c.2629T>G (p.Trp877Gly) c.3034T>G (p.Trp1012Gly) | |
15 | g.22903761A>G | CA391334344 | CYFIP1 | c.2527T>C (p.Trp843Arg) c.2533T>C (p.Trp845Arg) c.1240T>C (p.Trp414Arg) n.926T>C n.1680T>C c.2932T>C (p.Trp978Arg) c.2635T>C (p.Trp879Arg) c.853T>C (p.Trp285Arg) c.2443T>C (p.Trp815Arg) c.2167T>C (p.Trp723Arg) c.2431T>C (p.Trp811Arg) c.2629T>C (p.Trp877Arg) c.3034T>C (p.Trp1012Arg) | |
15 | g.22903761A>T | CA391334348 | CYFIP1 | c.2527T>A (p.Trp843Arg) c.2533T>A (p.Trp845Arg) c.1240T>A (p.Trp414Arg) n.926T>A n.1680T>A c.2932T>A (p.Trp978Arg) c.2635T>A (p.Trp879Arg) c.853T>A (p.Trp285Arg) c.2443T>A (p.Trp815Arg) c.2167T>A (p.Trp723Arg) c.2431T>A (p.Trp811Arg) c.2629T>A (p.Trp877Arg) c.3034T>A (p.Trp1012Arg) | |
15 | g.22903764_22903766del | CA711269907 | CYFIP1 | c.2525_2527del (p.Phe842del) c.2531_2533del (p.Phe844del) c.1238_1240del (p.Phe413del) n.924_926del n.1678_1680del c.2930_2932del (p.Phe977del) c.2633_2635del (p.Phe878del) c.851_853del (p.Phe284del) c.2441_2443del (p.Phe814del) c.2165_2167del (p.Phe722del) c.2429_2431del (p.Phe810del) c.2627_2629del (p.Phe876del) c.3032_3034del (p.Phe1011del) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903762G>A | CA488526443 | CYFIP1 | c.2526C>T (p.Phe842=) c.2532C>T (p.Phe844=) c.1239C>T (p.Phe413=) n.925C>T n.1679C>T c.2931C>T (p.Phe977=) c.2634C>T (p.Phe878=) c.852C>T (p.Phe284=) c.2442C>T (p.Phe814=) c.2166C>T (p.Phe722=) c.2430C>T (p.Phe810=) c.2628C>T (p.Phe876=) c.3033C>T (p.Phe1011=) | |
15 | g.22903762G>C | CA391334350 | CYFIP1 | c.2526C>G (p.Phe842Leu) c.2532C>G (p.Phe844Leu) c.1239C>G (p.Phe413Leu) n.925C>G n.1679C>G c.2931C>G (p.Phe977Leu) c.2634C>G (p.Phe878Leu) c.852C>G (p.Phe284Leu) c.2442C>G (p.Phe814Leu) c.2166C>G (p.Phe722Leu) c.2430C>G (p.Phe810Leu) c.2628C>G (p.Phe876Leu) c.3033C>G (p.Phe1011Leu) | |
15 | g.22903762G>T | CA391334352 | CYFIP1 | c.2526C>A (p.Phe842Leu) c.2532C>A (p.Phe844Leu) c.1239C>A (p.Phe413Leu) n.925C>A n.1679C>A c.2931C>A (p.Phe977Leu) c.2634C>A (p.Phe878Leu) c.852C>A (p.Phe284Leu) c.2442C>A (p.Phe814Leu) c.2166C>A (p.Phe722Leu) c.2430C>A (p.Phe810Leu) c.2628C>A (p.Phe876Leu) c.3033C>A (p.Phe1011Leu) | |
15 | g.22903763A>C | CA391334357 | CYFIP1 | c.2525T>G (p.Phe842Cys) c.2531T>G (p.Phe844Cys) c.1238T>G (p.Phe413Cys) n.924T>G n.1678T>G c.2930T>G (p.Phe977Cys) c.2633T>G (p.Phe878Cys) c.851T>G (p.Phe284Cys) c.2441T>G (p.Phe814Cys) c.2165T>G (p.Phe722Cys) c.2429T>G (p.Phe810Cys) c.2627T>G (p.Phe876Cys) c.3032T>G (p.Phe1011Cys) | |
15 | g.22903763A>G | CA391334355 | CYFIP1 | c.2525T>C (p.Phe842Ser) c.2531T>C (p.Phe844Ser) c.1238T>C (p.Phe413Ser) n.924T>C n.1678T>C c.2930T>C (p.Phe977Ser) c.2633T>C (p.Phe878Ser) c.851T>C (p.Phe284Ser) c.2441T>C (p.Phe814Ser) c.2165T>C (p.Phe722Ser) c.2429T>C (p.Phe810Ser) c.2627T>C (p.Phe876Ser) c.3032T>C (p.Phe1011Ser) | |
15 | g.22903763A>T | CA391334353 | CYFIP1 | c.2525T>A (p.Phe842Tyr) c.2531T>A (p.Phe844Tyr) c.1238T>A (p.Phe413Tyr) n.924T>A n.1678T>A c.2930T>A (p.Phe977Tyr) c.2633T>A (p.Phe878Tyr) c.851T>A (p.Phe284Tyr) c.2441T>A (p.Phe814Tyr) c.2165T>A (p.Phe722Tyr) c.2429T>A (p.Phe810Tyr) c.2627T>A (p.Phe876Tyr) c.3032T>A (p.Phe1011Tyr) | |
15 | g.22903764A>C | CA391334359 | CYFIP1 | c.2524T>G (p.Phe842Val) c.2530T>G (p.Phe844Val) c.1237T>G (p.Phe413Val) n.923T>G n.1677T>G c.2929T>G (p.Phe977Val) c.2632T>G (p.Phe878Val) c.850T>G (p.Phe284Val) c.2440T>G (p.Phe814Val) c.2164T>G (p.Phe722Val) c.2428T>G (p.Phe810Val) c.2626T>G (p.Phe876Val) c.3031T>G (p.Phe1011Val) | |
15 | g.22903764A>G | CA391334361 | CYFIP1 | c.2524T>C (p.Phe842Leu) c.2530T>C (p.Phe844Leu) c.1237T>C (p.Phe413Leu) n.923T>C n.1677T>C c.2929T>C (p.Phe977Leu) c.2632T>C (p.Phe878Leu) c.850T>C (p.Phe284Leu) c.2440T>C (p.Phe814Leu) c.2164T>C (p.Phe722Leu) c.2428T>C (p.Phe810Leu) c.2626T>C (p.Phe876Leu) c.3031T>C (p.Phe1011Leu) | |
15 | g.22903764A>T | CA391334362 | CYFIP1 | c.2524T>A (p.Phe842Ile) c.2530T>A (p.Phe844Ile) c.1237T>A (p.Phe413Ile) n.923T>A n.1677T>A c.2929T>A (p.Phe977Ile) c.2632T>A (p.Phe878Ile) c.850T>A (p.Phe284Ile) c.2440T>A (p.Phe814Ile) c.2164T>A (p.Phe722Ile) c.2428T>A (p.Phe810Ile) c.2626T>A (p.Phe876Ile) c.3031T>A (p.Phe1011Ile) | |
15 | g.22903765G>A | CA7425124 | CYFIP1 | c.2523C>T (p.Val841=) c.2529C>T (p.Val843=) c.1236C>T (p.Val412=) n.922C>T n.1676C>T c.2928C>T (p.Val976=) c.2631C>T (p.Val877=) c.849C>T (p.Val283=) c.2439C>T (p.Val813=) c.2163C>T (p.Val721=) c.2427C>T (p.Val809=) c.2625C>T (p.Val875=) c.3030C>T (p.Val1010=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903765G>C | CA488526444 | CYFIP1 | c.2523C>G (p.Val841=) c.2529C>G (p.Val843=) c.1236C>G (p.Val412=) n.922C>G n.1676C>G c.2928C>G (p.Val976=) c.2631C>G (p.Val877=) c.849C>G (p.Val283=) c.2439C>G (p.Val813=) c.2163C>G (p.Val721=) c.2427C>G (p.Val809=) c.2625C>G (p.Val875=) c.3030C>G (p.Val1010=) | |
15 | g.22903765G= | CA2163977968 | CYFIP1 | c.2523C= (p.Val841=) c.2529C= (p.Val843=) c.1236C= (p.Val412=) n.922C= n.1676C= c.2928C= (p.Val976=) c.2631C= (p.Val877=) c.849C= (p.Val283=) c.2439C= (p.Val813=) c.2163C= (p.Val721=) c.2427C= (p.Val809=) c.2625C= (p.Val875=) c.3030C= (p.Val1010=) | |
15 | g.22903765G>T | CA7425123 | CYFIP1 | c.2523C>A (p.Val841=) c.2529C>A (p.Val843=) c.1236C>A (p.Val412=) n.922C>A n.1676C>A c.2928C>A (p.Val976=) c.2631C>A (p.Val877=) c.849C>A (p.Val283=) c.2439C>A (p.Val813=) c.2163C>A (p.Val721=) c.2427C>A (p.Val809=) c.2625C>A (p.Val875=) c.3030C>A (p.Val1010=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.22903766A>C | CA391334366 | CYFIP1 | c.2522T>G (p.Val841Gly) c.2528T>G (p.Val843Gly) c.1235T>G (p.Val412Gly) n.921T>G n.1675T>G c.2927T>G (p.Val976Gly) c.2630T>G (p.Val877Gly) c.848T>G (p.Val283Gly) c.2438T>G (p.Val813Gly) c.2162T>G (p.Val721Gly) c.2426T>G (p.Val809Gly) c.2624T>G (p.Val875Gly) c.3029T>G (p.Val1010Gly) | |
15 | g.22903766A>G | CA391334367 | CYFIP1 | c.2522T>C (p.Val841Ala) c.2528T>C (p.Val843Ala) c.1235T>C (p.Val412Ala) n.921T>C n.1675T>C c.2927T>C (p.Val976Ala) c.2630T>C (p.Val877Ala) c.848T>C (p.Val283Ala) c.2438T>C (p.Val813Ala) c.2162T>C (p.Val721Ala) c.2426T>C (p.Val809Ala) c.2624T>C (p.Val875Ala) c.3029T>C (p.Val1010Ala) | |
15 | g.22903766A>T | CA391334369 | CYFIP1 | c.2522T>A (p.Val841Asp) c.2528T>A (p.Val843Asp) c.1235T>A (p.Val412Asp) n.921T>A n.1675T>A c.2927T>A (p.Val976Asp) c.2630T>A (p.Val877Asp) c.848T>A (p.Val283Asp) c.2438T>A (p.Val813Asp) c.2162T>A (p.Val721Asp) c.2426T>A (p.Val809Asp) c.2624T>A (p.Val875Asp) c.3029T>A (p.Val1010Asp) | |
15 | g.22903767C>A | CA391334370 | CYFIP1 | c.2521G>T (p.Val841Phe) c.2527G>T (p.Val843Phe) c.1234G>T (p.Val412Phe) n.920G>T n.1674G>T c.2926G>T (p.Val976Phe) c.2629G>T (p.Val877Phe) c.847G>T (p.Val283Phe) c.2437G>T (p.Val813Phe) c.2161G>T (p.Val721Phe) c.2425G>T (p.Val809Phe) c.2623G>T (p.Val875Phe) c.3028G>T (p.Val1010Phe) | |
15 | g.22903767C= | CA2163977971 | CYFIP1 | c.2521G= (p.Val841=) c.2527G= (p.Val843=) c.1234G= (p.Val412=) n.920G= n.1674G= c.2926G= (p.Val976=) c.2629G= (p.Val877=) c.847G= (p.Val283=) c.2437G= (p.Val813=) c.2161G= (p.Val721=) c.2425G= (p.Val809=) c.2623G= (p.Val875=) c.3028G= (p.Val1010=) | |
15 | g.22903767C>G | CA391334371 | CYFIP1 | c.2521G>C (p.Val841Leu) c.2527G>C (p.Val843Leu) c.1234G>C (p.Val412Leu) n.920G>C n.1674G>C c.2926G>C (p.Val976Leu) c.2629G>C (p.Val877Leu) c.847G>C (p.Val283Leu) c.2437G>C (p.Val813Leu) c.2161G>C (p.Val721Leu) c.2425G>C (p.Val809Leu) c.2623G>C (p.Val875Leu) c.3028G>C (p.Val1010Leu) | |
15 | g.22903767C>T | CA7425122 | CYFIP1 | c.2521G>A (p.Val841Ile) c.2527G>A (p.Val843Ile) c.1234G>A (p.Val412Ile) n.920G>A n.1674G>A c.2926G>A (p.Val976Ile) c.2629G>A (p.Val877Ile) c.847G>A (p.Val283Ile) c.2437G>A (p.Val813Ile) c.2161G>A (p.Val721Ile) c.2425G>A (p.Val809Ile) c.2623G>A (p.Val875Ile) c.3028G>A (p.Val1010Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903768G>A | CA7425121 | CYFIP1 | c.2520C>T (p.His840=) c.2526C>T (p.His842=) c.1233C>T (p.His411=) n.919C>T n.1673C>T c.2925C>T (p.His975=) c.2628C>T (p.His876=) c.846C>T (p.His282=) c.2436C>T (p.His812=) c.2160C>T (p.His720=) c.2424C>T (p.His808=) c.2622C>T (p.His874=) c.3027C>T (p.His1009=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903768G>C | CA391334375 | CYFIP1 | c.2520C>G (p.His840Gln) c.2526C>G (p.His842Gln) c.1233C>G (p.His411Gln) n.919C>G n.1673C>G c.2925C>G (p.His975Gln) c.2628C>G (p.His876Gln) c.846C>G (p.His282Gln) c.2436C>G (p.His812Gln) c.2160C>G (p.His720Gln) c.2424C>G (p.His808Gln) c.2622C>G (p.His874Gln) c.3027C>G (p.His1009Gln) | |
15 | g.22903768G= | CA2163977976 | CYFIP1 | c.2520C= (p.His840=) c.2526C= (p.His842=) c.1233C= (p.His411=) n.919C= n.1673C= c.2925C= (p.His975=) c.2628C= (p.His876=) c.846C= (p.His282=) c.2436C= (p.His812=) c.2160C= (p.His720=) c.2424C= (p.His808=) c.2622C= (p.His874=) c.3027C= (p.His1009=) | |
15 | g.22903768G>T | CA391334373 | CYFIP1 | c.2520C>A (p.His840Gln) c.2526C>A (p.His842Gln) c.1233C>A (p.His411Gln) n.919C>A n.1673C>A c.2925C>A (p.His975Gln) c.2628C>A (p.His876Gln) c.846C>A (p.His282Gln) c.2436C>A (p.His812Gln) c.2160C>A (p.His720Gln) c.2424C>A (p.His808Gln) c.2622C>A (p.His874Gln) c.3027C>A (p.His1009Gln) | |
15 | g.22903769T>A | CA391334378 | CYFIP1 | c.2519A>T (p.His840Leu) c.2525A>T (p.His842Leu) c.1232A>T (p.His411Leu) n.918A>T n.1672A>T c.2924A>T (p.His975Leu) c.2627A>T (p.His876Leu) c.845A>T (p.His282Leu) c.2435A>T (p.His812Leu) c.2159A>T (p.His720Leu) c.2423A>T (p.His808Leu) c.2621A>T (p.His874Leu) c.3026A>T (p.His1009Leu) | |
15 | g.22903769T>C | CA391334380 | CYFIP1 | c.2519A>G (p.His840Arg) c.2525A>G (p.His842Arg) c.1232A>G (p.His411Arg) n.918A>G n.1672A>G c.2924A>G (p.His975Arg) c.2627A>G (p.His876Arg) c.845A>G (p.His282Arg) c.2435A>G (p.His812Arg) c.2159A>G (p.His720Arg) c.2423A>G (p.His808Arg) c.2621A>G (p.His874Arg) c.3026A>G (p.His1009Arg) | |
15 | g.22903769T>G | CA391334382 | CYFIP1 | c.2519A>C (p.His840Pro) c.2525A>C (p.His842Pro) c.1232A>C (p.His411Pro) n.918A>C n.1672A>C c.2924A>C (p.His975Pro) c.2627A>C (p.His876Pro) c.845A>C (p.His282Pro) c.2435A>C (p.His812Pro) c.2159A>C (p.His720Pro) c.2423A>C (p.His808Pro) c.2621A>C (p.His874Pro) c.3026A>C (p.His1009Pro) | |
15 | g.22903770G>A | CA391334383 | CYFIP1 | c.2518C>T (p.His840Tyr) c.2524C>T (p.His842Tyr) c.1231C>T (p.His411Tyr) n.917C>T n.1671C>T c.2923C>T (p.His975Tyr) c.2626C>T (p.His876Tyr) c.844C>T (p.His282Tyr) c.2434C>T (p.His812Tyr) c.2158C>T (p.His720Tyr) c.2422C>T (p.His808Tyr) c.2620C>T (p.His874Tyr) c.3025C>T (p.His1009Tyr) | gnomAD v4 |
15 | g.22903770G>C | CA391334384 | CYFIP1 | c.2518C>G (p.His840Asp) c.2524C>G (p.His842Asp) c.1231C>G (p.His411Asp) n.917C>G n.1671C>G c.2923C>G (p.His975Asp) c.2626C>G (p.His876Asp) c.844C>G (p.His282Asp) c.2434C>G (p.His812Asp) c.2158C>G (p.His720Asp) c.2422C>G (p.His808Asp) c.2620C>G (p.His874Asp) c.3025C>G (p.His1009Asp) | |
15 | g.22903770G>T | CA391334387 | CYFIP1 | c.2518C>A (p.His840Asn) c.2524C>A (p.His842Asn) c.1231C>A (p.His411Asn) n.917C>A n.1671C>A c.2923C>A (p.His975Asn) c.2626C>A (p.His876Asn) c.844C>A (p.His282Asn) c.2434C>A (p.His812Asn) c.2158C>A (p.His720Asn) c.2422C>A (p.His808Asn) c.2620C>A (p.His874Asn) c.3025C>A (p.His1009Asn) | |
15 | g.22903771C>A | CA488526445 | CYFIP1 | c.2517G>T (p.Leu839=) c.2523G>T (p.Leu841=) c.1230G>T (p.Leu410=) n.916G>T n.1670G>T c.2922G>T (p.Leu974=) c.2625G>T (p.Leu875=) c.843G>T (p.Leu281=) c.2433G>T (p.Leu811=) c.2157G>T (p.Leu719=) c.2421G>T (p.Leu807=) c.2619G>T (p.Leu873=) c.3024G>T (p.Leu1008=) | |
15 | g.22903771C>G | CA488526447 | CYFIP1 | c.2517G>C (p.Leu839=) c.2523G>C (p.Leu841=) c.1230G>C (p.Leu410=) n.916G>C n.1670G>C c.2922G>C (p.Leu974=) c.2625G>C (p.Leu875=) c.843G>C (p.Leu281=) c.2433G>C (p.Leu811=) c.2157G>C (p.Leu719=) c.2421G>C (p.Leu807=) c.2619G>C (p.Leu873=) c.3024G>C (p.Leu1008=) | |
15 | g.22903771C>T | CA488526446 | CYFIP1 | c.2517G>A (p.Leu839=) c.2523G>A (p.Leu841=) c.1230G>A (p.Leu410=) n.916G>A n.1670G>A c.2922G>A (p.Leu974=) c.2625G>A (p.Leu875=) c.843G>A (p.Leu281=) c.2433G>A (p.Leu811=) c.2157G>A (p.Leu719=) c.2421G>A (p.Leu807=) c.2619G>A (p.Leu873=) c.3024G>A (p.Leu1008=) | gnomAD v4 |
15 | g.22903772A>C | CA391334389 | CYFIP1 | c.2516T>G (p.Leu839Arg) c.2522T>G (p.Leu841Arg) c.1229T>G (p.Leu410Arg) n.915T>G n.1669T>G c.2921T>G (p.Leu974Arg) c.2624T>G (p.Leu875Arg) c.842T>G (p.Leu281Arg) c.2432T>G (p.Leu811Arg) c.2156T>G (p.Leu719Arg) c.2420T>G (p.Leu807Arg) c.2618T>G (p.Leu873Arg) c.3023T>G (p.Leu1008Arg) | |
15 | g.22903772A>G | CA391334390 | CYFIP1 | c.2516T>C (p.Leu839Pro) c.2522T>C (p.Leu841Pro) c.1229T>C (p.Leu410Pro) n.915T>C n.1669T>C c.2921T>C (p.Leu974Pro) c.2624T>C (p.Leu875Pro) c.842T>C (p.Leu281Pro) c.2432T>C (p.Leu811Pro) c.2156T>C (p.Leu719Pro) c.2420T>C (p.Leu807Pro) c.2618T>C (p.Leu873Pro) c.3023T>C (p.Leu1008Pro) | |
15 | g.22903772A>T | CA391334392 | CYFIP1 | c.2516T>A (p.Leu839Gln) c.2522T>A (p.Leu841Gln) c.1229T>A (p.Leu410Gln) n.915T>A n.1669T>A c.2921T>A (p.Leu974Gln) c.2624T>A (p.Leu875Gln) c.842T>A (p.Leu281Gln) c.2432T>A (p.Leu811Gln) c.2156T>A (p.Leu719Gln) c.2420T>A (p.Leu807Gln) c.2618T>A (p.Leu873Gln) c.3023T>A (p.Leu1008Gln) | |
15 | g.22903773G>A | CA488526448 | CYFIP1 | c.2515C>T (p.Leu839=) c.2521C>T (p.Leu841=) c.1228C>T (p.Leu410=) n.914C>T n.1668C>T c.2920C>T (p.Leu974=) c.2623C>T (p.Leu875=) c.841C>T (p.Leu281=) c.2431C>T (p.Leu811=) c.2155C>T (p.Leu719=) c.2419C>T (p.Leu807=) c.2617C>T (p.Leu873=) c.3022C>T (p.Leu1008=) | |
15 | g.22903773G>C | CA391334395 | CYFIP1 | c.2515C>G (p.Leu839Val) c.2521C>G (p.Leu841Val) c.1228C>G (p.Leu410Val) n.914C>G n.1668C>G c.2920C>G (p.Leu974Val) c.2623C>G (p.Leu875Val) c.841C>G (p.Leu281Val) c.2431C>G (p.Leu811Val) c.2155C>G (p.Leu719Val) c.2419C>G (p.Leu807Val) c.2617C>G (p.Leu873Val) c.3022C>G (p.Leu1008Val) | |
15 | g.22903773G>T | CA391334396 | CYFIP1 | c.2515C>A (p.Leu839Met) c.2521C>A (p.Leu841Met) c.1228C>A (p.Leu410Met) n.914C>A n.1668C>A c.2920C>A (p.Leu974Met) c.2623C>A (p.Leu875Met) c.841C>A (p.Leu281Met) c.2431C>A (p.Leu811Met) c.2155C>A (p.Leu719Met) c.2419C>A (p.Leu807Met) c.2617C>A (p.Leu873Met) c.3022C>A (p.Leu1008Met) | |
15 | g.22903774G>A | CA488526451 | CYFIP1 | c.2514C>T (p.Thr838=) c.2520C>T (p.Thr840=) c.1227C>T (p.Thr409=) n.913C>T n.1667C>T c.2919C>T (p.Thr973=) c.2622C>T (p.Thr874=) c.840C>T (p.Thr280=) c.2430C>T (p.Thr810=) c.2154C>T (p.Thr718=) c.2418C>T (p.Thr806=) c.2616C>T (p.Thr872=) c.3021C>T (p.Thr1007=) | gnomAD v4 |
15 | g.22903774G>C | CA488526449 | CYFIP1 | c.2514C>G (p.Thr838=) c.2520C>G (p.Thr840=) c.1227C>G (p.Thr409=) n.913C>G n.1667C>G c.2919C>G (p.Thr973=) c.2622C>G (p.Thr874=) c.840C>G (p.Thr280=) c.2430C>G (p.Thr810=) c.2154C>G (p.Thr718=) c.2418C>G (p.Thr806=) c.2616C>G (p.Thr872=) c.3021C>G (p.Thr1007=) | |
15 | g.22903774G>T | CA488526450 | CYFIP1 | c.2514C>A (p.Thr838=) c.2520C>A (p.Thr840=) c.1227C>A (p.Thr409=) n.913C>A n.1667C>A c.2919C>A (p.Thr973=) c.2622C>A (p.Thr874=) c.840C>A (p.Thr280=) c.2430C>A (p.Thr810=) c.2154C>A (p.Thr718=) c.2418C>A (p.Thr806=) c.2616C>A (p.Thr872=) c.3021C>A (p.Thr1007=) | |
15 | g.22903775G>A | CA391334403 | CYFIP1 | c.2513C>T (p.Thr838Ile) c.2519C>T (p.Thr840Ile) c.1226C>T (p.Thr409Ile) n.912C>T n.1666C>T c.2918C>T (p.Thr973Ile) c.2621C>T (p.Thr874Ile) c.839C>T (p.Thr280Ile) c.2429C>T (p.Thr810Ile) c.2153C>T (p.Thr718Ile) c.2417C>T (p.Thr806Ile) c.2615C>T (p.Thr872Ile) c.3020C>T (p.Thr1007Ile) | |
15 | g.22903775G>C | CA391334401 | CYFIP1 | c.2513C>G (p.Thr838Ser) c.2519C>G (p.Thr840Ser) c.1226C>G (p.Thr409Ser) n.912C>G n.1666C>G c.2918C>G (p.Thr973Ser) c.2621C>G (p.Thr874Ser) c.839C>G (p.Thr280Ser) c.2429C>G (p.Thr810Ser) c.2153C>G (p.Thr718Ser) c.2417C>G (p.Thr806Ser) c.2615C>G (p.Thr872Ser) c.3020C>G (p.Thr1007Ser) | |
15 | g.22903775G>T | CA391334399 | CYFIP1 | c.2513C>A (p.Thr838Asn) c.2519C>A (p.Thr840Asn) c.1226C>A (p.Thr409Asn) n.912C>A n.1666C>A c.2918C>A (p.Thr973Asn) c.2621C>A (p.Thr874Asn) c.839C>A (p.Thr280Asn) c.2429C>A (p.Thr810Asn) c.2153C>A (p.Thr718Asn) c.2417C>A (p.Thr806Asn) c.2615C>A (p.Thr872Asn) c.3020C>A (p.Thr1007Asn) | |
15 | g.22903776T>A | CA391334405 | CYFIP1 | c.2512A>T (p.Thr838Ser) c.2518A>T (p.Thr840Ser) c.1225A>T (p.Thr409Ser) n.911A>T n.1665A>T c.2917A>T (p.Thr973Ser) c.2620A>T (p.Thr874Ser) c.838A>T (p.Thr280Ser) c.2428A>T (p.Thr810Ser) c.2152A>T (p.Thr718Ser) c.2416A>T (p.Thr806Ser) c.2614A>T (p.Thr872Ser) c.3019A>T (p.Thr1007Ser) | |
15 | g.22903776T>C | CA391334407 | CYFIP1 | c.2512A>G (p.Thr838Ala) c.2518A>G (p.Thr840Ala) c.1225A>G (p.Thr409Ala) n.911A>G n.1665A>G c.2917A>G (p.Thr973Ala) c.2620A>G (p.Thr874Ala) c.838A>G (p.Thr280Ala) c.2428A>G (p.Thr810Ala) c.2152A>G (p.Thr718Ala) c.2416A>G (p.Thr806Ala) c.2614A>G (p.Thr872Ala) c.3019A>G (p.Thr1007Ala) | gnomAD v4 |
15 | g.22903776T>G | CA391334409 | CYFIP1 | c.2512A>C (p.Thr838Pro) c.2518A>C (p.Thr840Pro) c.1225A>C (p.Thr409Pro) n.911A>C n.1665A>C c.2917A>C (p.Thr973Pro) c.2620A>C (p.Thr874Pro) c.838A>C (p.Thr280Pro) c.2428A>C (p.Thr810Pro) c.2152A>C (p.Thr718Pro) c.2416A>C (p.Thr806Pro) c.2614A>C (p.Thr872Pro) c.3019A>C (p.Thr1007Pro) | |
15 | g.22903777G>A | CA7425120 | CYFIP1 | c.2511C>T (p.Ile837=) c.2517C>T (p.Ile839=) c.1224C>T (p.Ile408=) n.910C>T n.1664C>T c.2916C>T (p.Ile972=) c.2619C>T (p.Ile873=) c.837C>T (p.Ile279=) c.2427C>T (p.Ile809=) c.2151C>T (p.Ile717=) c.2415C>T (p.Ile805=) c.2613C>T (p.Ile871=) c.3018C>T (p.Ile1006=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.22903777G>C | CA391334410 | CYFIP1 | c.2511C>G (p.Ile837Met) c.2517C>G (p.Ile839Met) c.1224C>G (p.Ile408Met) n.910C>G n.1664C>G c.2916C>G (p.Ile972Met) c.2619C>G (p.Ile873Met) c.837C>G (p.Ile279Met) c.2427C>G (p.Ile809Met) c.2151C>G (p.Ile717Met) c.2415C>G (p.Ile805Met) c.2613C>G (p.Ile871Met) c.3018C>G (p.Ile1006Met) | |
15 | g.22903777G= | CA2163977980 | CYFIP1 | c.2511C= (p.Ile837=) c.2517C= (p.Ile839=) c.1224C= (p.Ile408=) n.910C= n.1664C= c.2916C= (p.Ile972=) c.2619C= (p.Ile873=) c.837C= (p.Ile279=) c.2427C= (p.Ile809=) c.2151C= (p.Ile717=) c.2415C= (p.Ile805=) c.2613C= (p.Ile871=) c.3018C= (p.Ile1006=) | |
15 | g.22903777G>T | CA488526452 | CYFIP1 | c.2511C>A (p.Ile837=) c.2517C>A (p.Ile839=) c.1224C>A (p.Ile408=) n.910C>A n.1664C>A c.2916C>A (p.Ile972=) c.2619C>A (p.Ile873=) c.837C>A (p.Ile279=) c.2427C>A (p.Ile809=) c.2151C>A (p.Ile717=) c.2415C>A (p.Ile805=) c.2613C>A (p.Ile871=) c.3018C>A (p.Ile1006=) | |
15 | g.22903778A>C | CA391334411 | CYFIP1 | c.2510T>G (p.Ile837Ser) c.2516T>G (p.Ile839Ser) c.1223T>G (p.Ile408Ser) n.909T>G n.1663T>G c.2915T>G (p.Ile972Ser) c.2618T>G (p.Ile873Ser) c.836T>G (p.Ile279Ser) c.2426T>G (p.Ile809Ser) c.2150T>G (p.Ile717Ser) c.2414T>G (p.Ile805Ser) c.2612T>G (p.Ile871Ser) c.3017T>G (p.Ile1006Ser) | |
15 | g.22903778A>G | CA391334412 | CYFIP1 | c.2510T>C (p.Ile837Thr) c.2516T>C (p.Ile839Thr) c.1223T>C (p.Ile408Thr) n.909T>C n.1663T>C c.2915T>C (p.Ile972Thr) c.2618T>C (p.Ile873Thr) c.836T>C (p.Ile279Thr) c.2426T>C (p.Ile809Thr) c.2150T>C (p.Ile717Thr) c.2414T>C (p.Ile805Thr) c.2612T>C (p.Ile871Thr) c.3017T>C (p.Ile1006Thr) | |
15 | g.22903778A>T | CA391334413 | CYFIP1 | c.2510T>A (p.Ile837Asn) c.2516T>A (p.Ile839Asn) c.1223T>A (p.Ile408Asn) n.909T>A n.1663T>A c.2915T>A (p.Ile972Asn) c.2618T>A (p.Ile873Asn) c.836T>A (p.Ile279Asn) c.2426T>A (p.Ile809Asn) c.2150T>A (p.Ile717Asn) c.2414T>A (p.Ile805Asn) c.2612T>A (p.Ile871Asn) c.3017T>A (p.Ile1006Asn) | |
15 | g.22903779T>A | CA391334415 | CYFIP1 | c.2509A>T (p.Ile837Phe) c.2515A>T (p.Ile839Phe) c.1222A>T (p.Ile408Phe) n.908A>T n.1662A>T c.2914A>T (p.Ile972Phe) c.2617A>T (p.Ile873Phe) c.835A>T (p.Ile279Phe) c.2425A>T (p.Ile809Phe) c.2149A>T (p.Ile717Phe) c.2413A>T (p.Ile805Phe) c.2611A>T (p.Ile871Phe) c.3016A>T (p.Ile1006Phe) | gnomAD v4 |
15 | g.22903779T>C | CA391334416 | CYFIP1 | c.2509A>G (p.Ile837Val) c.2515A>G (p.Ile839Val) c.1222A>G (p.Ile408Val) n.908A>G n.1662A>G c.2914A>G (p.Ile972Val) c.2617A>G (p.Ile873Val) c.835A>G (p.Ile279Val) c.2425A>G (p.Ile809Val) c.2149A>G (p.Ile717Val) c.2413A>G (p.Ile805Val) c.2611A>G (p.Ile871Val) c.3016A>G (p.Ile1006Val) | |
15 | g.22903779T>G | CA391334419 | CYFIP1 | c.2509A>C (p.Ile837Leu) c.2515A>C (p.Ile839Leu) c.1222A>C (p.Ile408Leu) n.908A>C n.1662A>C c.2914A>C (p.Ile972Leu) c.2617A>C (p.Ile873Leu) c.835A>C (p.Ile279Leu) c.2425A>C (p.Ile809Leu) c.2149A>C (p.Ile717Leu) c.2413A>C (p.Ile805Leu) c.2611A>C (p.Ile871Leu) c.3016A>C (p.Ile1006Leu) | |
15 | g.22903780C>A | CA391334421 | CYFIP1 | c.2508G>T (p.Arg836Ser) c.2514G>T (p.Arg838Ser) c.1221G>T (p.Arg407Ser) n.907G>T n.1661G>T c.2913G>T (p.Arg971Ser) c.2616G>T (p.Arg872Ser) c.834G>T (p.Arg278Ser) c.2424G>T (p.Arg808Ser) c.2148G>T (p.Arg716Ser) c.2412G>T (p.Arg804Ser) c.2610G>T (p.Arg870Ser) c.3015G>T (p.Arg1005Ser) | |
15 | g.22903780C>G | CA391334422 | CYFIP1 | c.2508G>C (p.Arg836Ser) c.2514G>C (p.Arg838Ser) c.1221G>C (p.Arg407Ser) n.907G>C n.1661G>C c.2913G>C (p.Arg971Ser) c.2616G>C (p.Arg872Ser) c.834G>C (p.Arg278Ser) c.2424G>C (p.Arg808Ser) c.2148G>C (p.Arg716Ser) c.2412G>C (p.Arg804Ser) c.2610G>C (p.Arg870Ser) c.3015G>C (p.Arg1005Ser) | |
15 | g.22903780C>T | CA488526453 | CYFIP1 | c.2508G>A (p.Arg836=) c.2514G>A (p.Arg838=) c.1221G>A (p.Arg407=) n.907G>A n.1661G>A c.2913G>A (p.Arg971=) c.2616G>A (p.Arg872=) c.834G>A (p.Arg278=) c.2424G>A (p.Arg808=) c.2148G>A (p.Arg716=) c.2412G>A (p.Arg804=) c.2610G>A (p.Arg870=) c.3015G>A (p.Arg1005=) | gnomAD v4 |
15 | g.22903781C>A | CA391334427 | CYFIP1 | c.2507G>T (p.Arg836Met) c.2513G>T (p.Arg838Met) c.1220G>T (p.Arg407Met) n.906G>T n.1660G>T c.2912G>T (p.Arg971Met) c.2615G>T (p.Arg872Met) c.833G>T (p.Arg278Met) c.2423G>T (p.Arg808Met) c.2147G>T (p.Arg716Met) c.2411G>T (p.Arg804Met) c.2609G>T (p.Arg870Met) c.3014G>T (p.Arg1005Met) | |
15 | g.22903781C= | CA2163977986 | CYFIP1 | c.2507G= (p.Arg836=) c.2513G= (p.Arg838=) c.1220G= (p.Arg407=) n.906G= n.1660G= c.2912G= (p.Arg971=) c.2615G= (p.Arg872=) c.833G= (p.Arg278=) c.2423G= (p.Arg808=) c.2147G= (p.Arg716=) c.2411G= (p.Arg804=) c.2609G= (p.Arg870=) c.3014G= (p.Arg1005=) | |
15 | g.22903781C>G | CA391334426 | CYFIP1 | c.2507G>C (p.Arg836Thr) c.2513G>C (p.Arg838Thr) c.1220G>C (p.Arg407Thr) n.906G>C n.1660G>C c.2912G>C (p.Arg971Thr) c.2615G>C (p.Arg872Thr) c.833G>C (p.Arg278Thr) c.2423G>C (p.Arg808Thr) c.2147G>C (p.Arg716Thr) c.2411G>C (p.Arg804Thr) c.2609G>C (p.Arg870Thr) c.3014G>C (p.Arg1005Thr) | |
15 | g.22903781C>T | CA391334424 | CYFIP1 | c.2507G>A (p.Arg836Lys) c.2513G>A (p.Arg838Lys) c.1220G>A (p.Arg407Lys) n.906G>A n.1660G>A c.2912G>A (p.Arg971Lys) c.2615G>A (p.Arg872Lys) c.833G>A (p.Arg278Lys) c.2423G>A (p.Arg808Lys) c.2147G>A (p.Arg716Lys) c.2411G>A (p.Arg804Lys) c.2609G>A (p.Arg870Lys) c.3014G>A (p.Arg1005Lys) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903782T>A | CA391334432 | CYFIP1 | c.2506A>T (p.Arg836Trp) c.2512A>T (p.Arg838Trp) c.1219A>T (p.Arg407Trp) n.905A>T n.1659A>T c.2911A>T (p.Arg971Trp) c.2614A>T (p.Arg872Trp) c.832A>T (p.Arg278Trp) c.2422A>T (p.Arg808Trp) c.2146A>T (p.Arg716Trp) c.2410A>T (p.Arg804Trp) c.2608A>T (p.Arg870Trp) c.3013A>T (p.Arg1005Trp) | COSMIC |
15 | g.22903782T>C | CA391334430 | CYFIP1 | c.2506A>G (p.Arg836Gly) c.2512A>G (p.Arg838Gly) c.1219A>G (p.Arg407Gly) n.905A>G n.1659A>G c.2911A>G (p.Arg971Gly) c.2614A>G (p.Arg872Gly) c.832A>G (p.Arg278Gly) c.2422A>G (p.Arg808Gly) c.2146A>G (p.Arg716Gly) c.2410A>G (p.Arg804Gly) c.2608A>G (p.Arg870Gly) c.3013A>G (p.Arg1005Gly) | |
15 | g.22903782T>G | CA488526454 | CYFIP1 | c.2506A>C (p.Arg836=) c.2512A>C (p.Arg838=) c.1219A>C (p.Arg407=) n.905A>C n.1659A>C c.2911A>C (p.Arg971=) c.2614A>C (p.Arg872=) c.832A>C (p.Arg278=) c.2422A>C (p.Arg808=) c.2146A>C (p.Arg716=) c.2410A>C (p.Arg804=) c.2608A>C (p.Arg870=) c.3013A>C (p.Arg1005=) | |
15 | g.22903783C>A | CA488526456 | CYFIP1 | c.2505G>T (p.Gly835=) c.2511G>T (p.Gly837=) c.1218G>T (p.Gly406=) n.904G>T n.1658G>T c.2910G>T (p.Gly970=) c.2613G>T (p.Gly871=) c.831G>T (p.Gly277=) c.2421G>T (p.Gly807=) c.2145G>T (p.Gly715=) c.2409G>T (p.Gly803=) c.2607G>T (p.Gly869=) c.3012G>T (p.Gly1004=) | |
15 | g.22903783C>G | CA488526457 | CYFIP1 | c.2505G>C (p.Gly835=) c.2511G>C (p.Gly837=) c.1218G>C (p.Gly406=) n.904G>C n.1658G>C c.2910G>C (p.Gly970=) c.2613G>C (p.Gly871=) c.831G>C (p.Gly277=) c.2421G>C (p.Gly807=) c.2145G>C (p.Gly715=) c.2409G>C (p.Gly803=) c.2607G>C (p.Gly869=) c.3012G>C (p.Gly1004=) | |
15 | g.22903783C>T | CA488526455 | CYFIP1 | c.2505G>A (p.Gly835=) c.2511G>A (p.Gly837=) c.1218G>A (p.Gly406=) n.904G>A n.1658G>A c.2910G>A (p.Gly970=) c.2613G>A (p.Gly871=) c.831G>A (p.Gly277=) c.2421G>A (p.Gly807=) c.2145G>A (p.Gly715=) c.2409G>A (p.Gly803=) c.2607G>A (p.Gly869=) c.3012G>A (p.Gly1004=) | gnomAD v4 |
15 | g.22903784C>A | CA391334433 | CYFIP1 | c.2504G>T (p.Gly835Val) c.2510G>T (p.Gly837Val) c.1217G>T (p.Gly406Val) n.903G>T n.1657G>T c.2909G>T (p.Gly970Val) c.2612G>T (p.Gly871Val) c.830G>T (p.Gly277Val) c.2420G>T (p.Gly807Val) c.2144G>T (p.Gly715Val) c.2408G>T (p.Gly803Val) c.2606G>T (p.Gly869Val) c.3011G>T (p.Gly1004Val) | |
15 | g.22903784C>G | CA391334435 | CYFIP1 | c.2504G>C (p.Gly835Ala) c.2510G>C (p.Gly837Ala) c.1217G>C (p.Gly406Ala) n.903G>C n.1657G>C c.2909G>C (p.Gly970Ala) c.2612G>C (p.Gly871Ala) c.830G>C (p.Gly277Ala) c.2420G>C (p.Gly807Ala) c.2144G>C (p.Gly715Ala) c.2408G>C (p.Gly803Ala) c.2606G>C (p.Gly869Ala) c.3011G>C (p.Gly1004Ala) | |
15 | g.22903784C>T | CA391334437 | CYFIP1 | c.2504G>A (p.Gly835Glu) c.2510G>A (p.Gly837Glu) c.1217G>A (p.Gly406Glu) n.903G>A n.1657G>A c.2909G>A (p.Gly970Glu) c.2612G>A (p.Gly871Glu) c.830G>A (p.Gly277Glu) c.2420G>A (p.Gly807Glu) c.2144G>A (p.Gly715Glu) c.2408G>A (p.Gly803Glu) c.2606G>A (p.Gly869Glu) c.3011G>A (p.Gly1004Glu) | |
15 | g.22903785C>A | CA391334439 | CYFIP1 | c.2503G>T (p.Gly835Trp) c.2509G>T (p.Gly837Trp) c.1216G>T (p.Gly406Trp) n.902G>T n.1656G>T c.2908G>T (p.Gly970Trp) c.2611G>T (p.Gly871Trp) c.829G>T (p.Gly277Trp) c.2419G>T (p.Gly807Trp) c.2143G>T (p.Gly715Trp) c.2407G>T (p.Gly803Trp) c.2605G>T (p.Gly869Trp) c.3010G>T (p.Gly1004Trp) | |
15 | g.22903785C= | CA2163977989 | CYFIP1 | c.2503G= (p.Gly835=) c.2509G= (p.Gly837=) c.1216G= (p.Gly406=) n.902G= n.1656G= c.2908G= (p.Gly970=) c.2611G= (p.Gly871=) c.829G= (p.Gly277=) c.2419G= (p.Gly807=) c.2143G= (p.Gly715=) c.2407G= (p.Gly803=) c.2605G= (p.Gly869=) c.3010G= (p.Gly1004=) | |
15 | g.22903785C>G | CA391334441 | CYFIP1 | c.2503G>C (p.Gly835Arg) c.2509G>C (p.Gly837Arg) c.1216G>C (p.Gly406Arg) n.902G>C n.1656G>C c.2908G>C (p.Gly970Arg) c.2611G>C (p.Gly871Arg) c.829G>C (p.Gly277Arg) c.2419G>C (p.Gly807Arg) c.2143G>C (p.Gly715Arg) c.2407G>C (p.Gly803Arg) c.2605G>C (p.Gly869Arg) c.3010G>C (p.Gly1004Arg) | |
15 | g.22903785C>T | CA267616387 | CYFIP1 | c.2503G>A (p.Gly835Arg) c.2509G>A (p.Gly837Arg) c.1216G>A (p.Gly406Arg) n.902G>A n.1656G>A c.2908G>A (p.Gly970Arg) c.2611G>A (p.Gly871Arg) c.829G>A (p.Gly277Arg) c.2419G>A (p.Gly807Arg) c.2143G>A (p.Gly715Arg) c.2407G>A (p.Gly803Arg) c.2605G>A (p.Gly869Arg) c.3010G>A (p.Gly1004Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903786G>A | CA7425119 | CYFIP1 | c.2502C>T (p.Tyr834=) c.2508C>T (p.Tyr836=) c.1215C>T (p.Tyr405=) n.901C>T n.1655C>T c.2907C>T (p.Tyr969=) c.2610C>T (p.Tyr870=) c.828C>T (p.Tyr276=) c.2418C>T (p.Tyr806=) c.2142C>T (p.Tyr714=) c.2406C>T (p.Tyr802=) c.2604C>T (p.Tyr868=) c.3009C>T (p.Tyr1003=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903786G>C | CA391334444 | CYFIP1 | c.2502C>G (p.Tyr834Ter) c.2508C>G (p.Tyr836Ter) c.1215C>G (p.Tyr405Ter) n.901C>G n.1655C>G c.2907C>G (p.Tyr969Ter) c.2610C>G (p.Tyr870Ter) c.828C>G (p.Tyr276Ter) c.2418C>G (p.Tyr806Ter) c.2142C>G (p.Tyr714Ter) c.2406C>G (p.Tyr802Ter) c.2604C>G (p.Tyr868Ter) c.3009C>G (p.Tyr1003Ter) | |
15 | g.22903786G= | CA2163977997 | CYFIP1 | c.2502C= (p.Tyr834=) c.2508C= (p.Tyr836=) c.1215C= (p.Tyr405=) n.901C= n.1655C= c.2907C= (p.Tyr969=) c.2610C= (p.Tyr870=) c.828C= (p.Tyr276=) c.2418C= (p.Tyr806=) c.2142C= (p.Tyr714=) c.2406C= (p.Tyr802=) c.2604C= (p.Tyr868=) c.3009C= (p.Tyr1003=) | |
15 | g.22903786G>T | CA391334446 | CYFIP1 | c.2502C>A (p.Tyr834Ter) c.2508C>A (p.Tyr836Ter) c.1215C>A (p.Tyr405Ter) n.901C>A n.1655C>A c.2907C>A (p.Tyr969Ter) c.2610C>A (p.Tyr870Ter) c.828C>A (p.Tyr276Ter) c.2418C>A (p.Tyr806Ter) c.2142C>A (p.Tyr714Ter) c.2406C>A (p.Tyr802Ter) c.2604C>A (p.Tyr868Ter) c.3009C>A (p.Tyr1003Ter) | gnomAD v4 |
15 | g.22903787T>A | CA391334447 | CYFIP1 | c.2501A>T (p.Tyr834Phe) c.2507A>T (p.Tyr836Phe) c.1214A>T (p.Tyr405Phe) n.900A>T n.1654A>T c.2906A>T (p.Tyr969Phe) c.2609A>T (p.Tyr870Phe) c.827A>T (p.Tyr276Phe) c.2417A>T (p.Tyr806Phe) c.2141A>T (p.Tyr714Phe) c.2405A>T (p.Tyr802Phe) c.2603A>T (p.Tyr868Phe) c.3008A>T (p.Tyr1003Phe) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903787T>C | CA391334449 | CYFIP1 | c.2501A>G (p.Tyr834Cys) c.2507A>G (p.Tyr836Cys) c.1214A>G (p.Tyr405Cys) n.900A>G n.1654A>G c.2906A>G (p.Tyr969Cys) c.2609A>G (p.Tyr870Cys) c.827A>G (p.Tyr276Cys) c.2417A>G (p.Tyr806Cys) c.2141A>G (p.Tyr714Cys) c.2405A>G (p.Tyr802Cys) c.2603A>G (p.Tyr868Cys) c.3008A>G (p.Tyr1003Cys) | |
15 | g.22903787T>G | CA391334450 | CYFIP1 | c.2501A>C (p.Tyr834Ser) c.2507A>C (p.Tyr836Ser) c.1214A>C (p.Tyr405Ser) n.900A>C n.1654A>C c.2906A>C (p.Tyr969Ser) c.2609A>C (p.Tyr870Ser) c.827A>C (p.Tyr276Ser) c.2417A>C (p.Tyr806Ser) c.2141A>C (p.Tyr714Ser) c.2405A>C (p.Tyr802Ser) c.2603A>C (p.Tyr868Ser) c.3008A>C (p.Tyr1003Ser) | |
15 | g.22903787T= | CA2163978002 | CYFIP1 | c.2501A= (p.Tyr834=) c.2507A= (p.Tyr836=) c.1214A= (p.Tyr405=) n.900A= n.1654A= c.2906A= (p.Tyr969=) c.2609A= (p.Tyr870=) c.827A= (p.Tyr276=) c.2417A= (p.Tyr806=) c.2141A= (p.Tyr714=) c.2405A= (p.Tyr802=) c.2603A= (p.Tyr868=) c.3008A= (p.Tyr1003=) | |
15 | g.22903788A>C | CA391334456 | CYFIP1 | c.2500T>G (p.Tyr834Asp) c.2506T>G (p.Tyr836Asp) c.1213T>G (p.Tyr405Asp) n.899T>G n.1653T>G c.2905T>G (p.Tyr969Asp) c.2608T>G (p.Tyr870Asp) c.826T>G (p.Tyr276Asp) c.2416T>G (p.Tyr806Asp) c.2140T>G (p.Tyr714Asp) c.2404T>G (p.Tyr802Asp) c.2602T>G (p.Tyr868Asp) c.3007T>G (p.Tyr1003Asp) | dbSNP |
15 | g.22903788A>G | CA391334455 | CYFIP1 | c.2500T>C (p.Tyr834His) c.2506T>C (p.Tyr836His) c.1213T>C (p.Tyr405His) n.899T>C n.1653T>C c.2905T>C (p.Tyr969His) c.2608T>C (p.Tyr870His) c.826T>C (p.Tyr276His) c.2416T>C (p.Tyr806His) c.2140T>C (p.Tyr714His) c.2404T>C (p.Tyr802His) c.2602T>C (p.Tyr868His) c.3007T>C (p.Tyr1003His) | |
15 | g.22903788A>T | CA391334453 | CYFIP1 | c.2500T>A (p.Tyr834Asn) c.2506T>A (p.Tyr836Asn) c.1213T>A (p.Tyr405Asn) n.899T>A n.1653T>A c.2905T>A (p.Tyr969Asn) c.2608T>A (p.Tyr870Asn) c.826T>A (p.Tyr276Asn) c.2416T>A (p.Tyr806Asn) c.2140T>A (p.Tyr714Asn) c.2404T>A (p.Tyr802Asn) c.2602T>A (p.Tyr868Asn) c.3007T>A (p.Tyr1003Asn) | dbSNP |
15 | g.22903789G>A | CA488526459 | CYFIP1 | c.2499C>T (p.Pro833=) c.2505C>T (p.Pro835=) c.1212C>T (p.Pro404=) n.898C>T n.1652C>T c.2904C>T (p.Pro968=) c.2607C>T (p.Pro869=) c.825C>T (p.Pro275=) c.2415C>T (p.Pro805=) c.2139C>T (p.Pro713=) c.2403C>T (p.Pro801=) c.2601C>T (p.Pro867=) c.3006C>T (p.Pro1002=) | dbSNP |
15 | g.22903789G>C | CA488526460 | CYFIP1 | c.2499C>G (p.Pro833=) c.2505C>G (p.Pro835=) c.1212C>G (p.Pro404=) n.898C>G n.1652C>G c.2904C>G (p.Pro968=) c.2607C>G (p.Pro869=) c.825C>G (p.Pro275=) c.2415C>G (p.Pro805=) c.2139C>G (p.Pro713=) c.2403C>G (p.Pro801=) c.2601C>G (p.Pro867=) c.3006C>G (p.Pro1002=) | gnomAD v4 |
15 | g.22903789G= | CA2163978005 | CYFIP1 | c.2499C= (p.Pro833=) c.2505C= (p.Pro835=) c.1212C= (p.Pro404=) n.898C= n.1652C= c.2904C= (p.Pro968=) c.2607C= (p.Pro869=) c.825C= (p.Pro275=) c.2415C= (p.Pro805=) c.2139C= (p.Pro713=) c.2403C= (p.Pro801=) c.2601C= (p.Pro867=) c.3006C= (p.Pro1002=) | |
15 | g.22903789G>T | CA488526458 | CYFIP1 | c.2499C>A (p.Pro833=) c.2505C>A (p.Pro835=) c.1212C>A (p.Pro404=) n.898C>A n.1652C>A c.2904C>A (p.Pro968=) c.2607C>A (p.Pro869=) c.825C>A (p.Pro275=) c.2415C>A (p.Pro805=) c.2139C>A (p.Pro713=) c.2403C>A (p.Pro801=) c.2601C>A (p.Pro867=) c.3006C>A (p.Pro1002=) | |
15 | g.22903790G>A | CA391334458 | CYFIP1 | c.2498C>T (p.Pro833Leu) c.2504C>T (p.Pro835Leu) c.1211C>T (p.Pro404Leu) n.897C>T n.1651C>T c.2903C>T (p.Pro968Leu) c.2606C>T (p.Pro869Leu) c.824C>T (p.Pro275Leu) c.2414C>T (p.Pro805Leu) c.2138C>T (p.Pro713Leu) c.2402C>T (p.Pro801Leu) c.2600C>T (p.Pro867Leu) c.3005C>T (p.Pro1002Leu) | |
15 | g.22903790G>C | CA391334460 | CYFIP1 | c.2498C>G (p.Pro833Arg) c.2504C>G (p.Pro835Arg) c.1211C>G (p.Pro404Arg) n.897C>G n.1651C>G c.2903C>G (p.Pro968Arg) c.2606C>G (p.Pro869Arg) c.824C>G (p.Pro275Arg) c.2414C>G (p.Pro805Arg) c.2138C>G (p.Pro713Arg) c.2402C>G (p.Pro801Arg) c.2600C>G (p.Pro867Arg) c.3005C>G (p.Pro1002Arg) | |
15 | g.22903790G>T | CA391334462 | CYFIP1 | c.2498C>A (p.Pro833His) c.2504C>A (p.Pro835His) c.1211C>A (p.Pro404His) n.897C>A n.1651C>A c.2903C>A (p.Pro968His) c.2606C>A (p.Pro869His) c.824C>A (p.Pro275His) c.2414C>A (p.Pro805His) c.2138C>A (p.Pro713His) c.2402C>A (p.Pro801His) c.2600C>A (p.Pro867His) c.3005C>A (p.Pro1002His) | |
15 | g.22903791G>A | CA391334464 | CYFIP1 | c.2497C>T (p.Pro833Ser) c.2503C>T (p.Pro835Ser) c.1210C>T (p.Pro404Ser) n.896C>T n.1650C>T c.2902C>T (p.Pro968Ser) c.2605C>T (p.Pro869Ser) c.823C>T (p.Pro275Ser) c.2413C>T (p.Pro805Ser) c.2137C>T (p.Pro713Ser) c.2401C>T (p.Pro801Ser) c.2599C>T (p.Pro867Ser) c.3004C>T (p.Pro1002Ser) | |
15 | g.22903791G>C | CA391334465 | CYFIP1 | c.2497C>G (p.Pro833Ala) c.2503C>G (p.Pro835Ala) c.1210C>G (p.Pro404Ala) n.896C>G n.1650C>G c.2902C>G (p.Pro968Ala) c.2605C>G (p.Pro869Ala) c.823C>G (p.Pro275Ala) c.2413C>G (p.Pro805Ala) c.2137C>G (p.Pro713Ala) c.2401C>G (p.Pro801Ala) c.2599C>G (p.Pro867Ala) c.3004C>G (p.Pro1002Ala) | |
15 | g.22903791G>T | CA391334467 | CYFIP1 | c.2497C>A (p.Pro833Thr) c.2503C>A (p.Pro835Thr) c.1210C>A (p.Pro404Thr) n.896C>A n.1650C>A c.2902C>A (p.Pro968Thr) c.2605C>A (p.Pro869Thr) c.823C>A (p.Pro275Thr) c.2413C>A (p.Pro805Thr) c.2137C>A (p.Pro713Thr) c.2401C>A (p.Pro801Thr) c.2599C>A (p.Pro867Thr) c.3004C>A (p.Pro1002Thr) | |
15 | g.22903792C>A | CA488526461 | CYFIP1 | c.2496G>T (p.Ala832=) c.2502G>T (p.Ala834=) c.1209G>T (p.Ala403=) n.895G>T n.1649G>T c.2901G>T (p.Ala967=) c.2604G>T (p.Ala868=) c.822G>T (p.Ala274=) c.2412G>T (p.Ala804=) c.2136G>T (p.Ala712=) c.2400G>T (p.Ala800=) c.2598G>T (p.Ala866=) c.3003G>T (p.Ala1001=) | |
15 | g.22903792C= | CA2163978009 | CYFIP1 | c.2496G= (p.Ala832=) c.2502G= (p.Ala834=) c.1209G= (p.Ala403=) n.895G= n.1649G= c.2901G= (p.Ala967=) c.2604G= (p.Ala868=) c.822G= (p.Ala274=) c.2412G= (p.Ala804=) c.2136G= (p.Ala712=) c.2400G= (p.Ala800=) c.2598G= (p.Ala866=) c.3003G= (p.Ala1001=) | |
15 | g.22903792C>G | CA488526462 | CYFIP1 | c.2496G>C (p.Ala832=) c.2502G>C (p.Ala834=) c.1209G>C (p.Ala403=) n.895G>C n.1649G>C c.2901G>C (p.Ala967=) c.2604G>C (p.Ala868=) c.822G>C (p.Ala274=) c.2412G>C (p.Ala804=) c.2136G>C (p.Ala712=) c.2400G>C (p.Ala800=) c.2598G>C (p.Ala866=) c.3003G>C (p.Ala1001=) | gnomAD v4 |
15 | g.22903792C>T | CA7425118 | CYFIP1 | c.2496G>A (p.Ala832=) c.2502G>A (p.Ala834=) c.1209G>A (p.Ala403=) n.895G>A n.1649G>A c.2901G>A (p.Ala967=) c.2604G>A (p.Ala868=) c.822G>A (p.Ala274=) c.2412G>A (p.Ala804=) c.2136G>A (p.Ala712=) c.2400G>A (p.Ala800=) c.2598G>A (p.Ala866=) c.3003G>A (p.Ala1001=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903793G>A | CA391334468 | CYFIP1 | c.2495C>T (p.Ala832Val) c.2501C>T (p.Ala834Val) c.1208C>T (p.Ala403Val) n.894C>T n.1648C>T c.2900C>T (p.Ala967Val) c.2603C>T (p.Ala868Val) c.821C>T (p.Ala274Val) c.2411C>T (p.Ala804Val) c.2135C>T (p.Ala712Val) c.2399C>T (p.Ala800Val) c.2597C>T (p.Ala866Val) c.3002C>T (p.Ala1001Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903793G>C | CA391334469 | CYFIP1 | c.2495C>G (p.Ala832Gly) c.2501C>G (p.Ala834Gly) c.1208C>G (p.Ala403Gly) n.894C>G n.1648C>G c.2900C>G (p.Ala967Gly) c.2603C>G (p.Ala868Gly) c.821C>G (p.Ala274Gly) c.2411C>G (p.Ala804Gly) c.2135C>G (p.Ala712Gly) c.2399C>G (p.Ala800Gly) c.2597C>G (p.Ala866Gly) c.3002C>G (p.Ala1001Gly) | |
15 | g.22903793G= | CA2163978013 | CYFIP1 | c.2495C= (p.Ala832=) c.2501C= (p.Ala834=) c.1208C= (p.Ala403=) n.894C= n.1648C= c.2900C= (p.Ala967=) c.2603C= (p.Ala868=) c.821C= (p.Ala274=) c.2411C= (p.Ala804=) c.2135C= (p.Ala712=) c.2399C= (p.Ala800=) c.2597C= (p.Ala866=) c.3002C= (p.Ala1001=) | |
15 | g.22903793G>T | CA391334470 | CYFIP1 | c.2495C>A (p.Ala832Glu) c.2501C>A (p.Ala834Glu) c.1208C>A (p.Ala403Glu) n.894C>A n.1648C>A c.2900C>A (p.Ala967Glu) c.2603C>A (p.Ala868Glu) c.821C>A (p.Ala274Glu) c.2411C>A (p.Ala804Glu) c.2135C>A (p.Ala712Glu) c.2399C>A (p.Ala800Glu) c.2597C>A (p.Ala866Glu) c.3002C>A (p.Ala1001Glu) | |
15 | g.22903794C>A | CA391334473 | CYFIP1 | c.2494G>T (p.Ala832Ser) c.2500G>T (p.Ala834Ser) c.1207G>T (p.Ala403Ser) n.893G>T n.1647G>T c.2899G>T (p.Ala967Ser) c.2602G>T (p.Ala868Ser) c.820G>T (p.Ala274Ser) c.2410G>T (p.Ala804Ser) c.2134G>T (p.Ala712Ser) c.2398G>T (p.Ala800Ser) c.2596G>T (p.Ala866Ser) c.3001G>T (p.Ala1001Ser) | dbSNP |
15 | g.22903794C>G | CA391334474 | CYFIP1 | c.2494G>C (p.Ala832Pro) c.2500G>C (p.Ala834Pro) c.1207G>C (p.Ala403Pro) n.893G>C n.1647G>C c.2899G>C (p.Ala967Pro) c.2602G>C (p.Ala868Pro) c.820G>C (p.Ala274Pro) c.2410G>C (p.Ala804Pro) c.2134G>C (p.Ala712Pro) c.2398G>C (p.Ala800Pro) c.2596G>C (p.Ala866Pro) c.3001G>C (p.Ala1001Pro) | dbSNP |
15 | g.22903794C>T | CA391334476 | CYFIP1 | c.2494G>A (p.Ala832Thr) c.2500G>A (p.Ala834Thr) c.1207G>A (p.Ala403Thr) n.893G>A n.1647G>A c.2899G>A (p.Ala967Thr) c.2602G>A (p.Ala868Thr) c.820G>A (p.Ala274Thr) c.2410G>A (p.Ala804Thr) c.2134G>A (p.Ala712Thr) c.2398G>A (p.Ala800Thr) c.2596G>A (p.Ala866Thr) c.3001G>A (p.Ala1001Thr) | |
15 | g.22903795T>A | CA488526463 | CYFIP1 | c.2493A>T (p.Ser831=) c.2499A>T (p.Ser833=) c.1206A>T (p.Ser402=) n.892A>T n.1646A>T c.2898A>T (p.Ser966=) c.2601A>T (p.Ser867=) c.819A>T (p.Ser273=) c.2409A>T (p.Ser803=) c.2133A>T (p.Ser711=) c.2397A>T (p.Ser799=) c.2595A>T (p.Ser865=) c.3000A>T (p.Ser1000=) | |
15 | g.22903795T>C | CA7425117 | CYFIP1 | c.2493A>G (p.Ser831=) c.2499A>G (p.Ser833=) c.1206A>G (p.Ser402=) n.892A>G n.1646A>G c.2898A>G (p.Ser966=) c.2601A>G (p.Ser867=) c.819A>G (p.Ser273=) c.2409A>G (p.Ser803=) c.2133A>G (p.Ser711=) c.2397A>G (p.Ser799=) c.2595A>G (p.Ser865=) c.3000A>G (p.Ser1000=) | dbSNP ExAC gnomAD v2 |
15 | g.22903795T>G | CA488526464 | CYFIP1 | c.2493A>C (p.Ser831=) c.2499A>C (p.Ser833=) c.1206A>C (p.Ser402=) n.892A>C n.1646A>C c.2898A>C (p.Ser966=) c.2601A>C (p.Ser867=) c.819A>C (p.Ser273=) c.2409A>C (p.Ser803=) c.2133A>C (p.Ser711=) c.2397A>C (p.Ser799=) c.2595A>C (p.Ser865=) c.3000A>C (p.Ser1000=) | |
15 | g.22903795T= | CA2163978016 | CYFIP1 | c.2493A= (p.Ser831=) c.2499A= (p.Ser833=) c.1206A= (p.Ser402=) n.892A= n.1646A= c.2898A= (p.Ser966=) c.2601A= (p.Ser867=) c.819A= (p.Ser273=) c.2409A= (p.Ser803=) c.2133A= (p.Ser711=) c.2397A= (p.Ser799=) c.2595A= (p.Ser865=) c.3000A= (p.Ser1000=) | |
15 | g.22903796G>A | CA391334480 | CYFIP1 | c.2492C>T (p.Ser831Leu) c.2498C>T (p.Ser833Leu) c.1205C>T (p.Ser402Leu) n.891C>T n.1645C>T c.2897C>T (p.Ser966Leu) c.2600C>T (p.Ser867Leu) c.818C>T (p.Ser273Leu) c.2408C>T (p.Ser803Leu) c.2132C>T (p.Ser711Leu) c.2396C>T (p.Ser799Leu) c.2594C>T (p.Ser865Leu) c.2999C>T (p.Ser1000Leu) | |
15 | g.22903796G>C | CA391334483 | CYFIP1 | c.2492C>G (p.Ser831Ter) c.2498C>G (p.Ser833Ter) c.1205C>G (p.Ser402Ter) n.891C>G n.1645C>G c.2897C>G (p.Ser966Ter) c.2600C>G (p.Ser867Ter) c.818C>G (p.Ser273Ter) c.2408C>G (p.Ser803Ter) c.2132C>G (p.Ser711Ter) c.2396C>G (p.Ser799Ter) c.2594C>G (p.Ser865Ter) c.2999C>G (p.Ser1000Ter) | |
15 | g.22903796G>T | CA391334479 | CYFIP1 | c.2492C>A (p.Ser831Ter) c.2498C>A (p.Ser833Ter) c.1205C>A (p.Ser402Ter) n.891C>A n.1645C>A c.2897C>A (p.Ser966Ter) c.2600C>A (p.Ser867Ter) c.818C>A (p.Ser273Ter) c.2408C>A (p.Ser803Ter) c.2132C>A (p.Ser711Ter) c.2396C>A (p.Ser799Ter) c.2594C>A (p.Ser865Ter) c.2999C>A (p.Ser1000Ter) | |
15 | g.22903797A>C | CA391334485 | CYFIP1 | c.2491T>G (p.Ser831Ala) c.2497T>G (p.Ser833Ala) c.1204T>G (p.Ser402Ala) n.890T>G n.1644T>G c.2896T>G (p.Ser966Ala) c.2599T>G (p.Ser867Ala) c.817T>G (p.Ser273Ala) c.2407T>G (p.Ser803Ala) c.2131T>G (p.Ser711Ala) c.2395T>G (p.Ser799Ala) c.2593T>G (p.Ser865Ala) c.2998T>G (p.Ser1000Ala) | |
15 | g.22903797A>G | CA391334486 | CYFIP1 | c.2491T>C (p.Ser831Pro) c.2497T>C (p.Ser833Pro) c.1204T>C (p.Ser402Pro) n.890T>C n.1644T>C c.2896T>C (p.Ser966Pro) c.2599T>C (p.Ser867Pro) c.817T>C (p.Ser273Pro) c.2407T>C (p.Ser803Pro) c.2131T>C (p.Ser711Pro) c.2395T>C (p.Ser799Pro) c.2593T>C (p.Ser865Pro) c.2998T>C (p.Ser1000Pro) | |
15 | g.22903797A>T | CA391334489 | CYFIP1 | c.2491T>A (p.Ser831Thr) c.2497T>A (p.Ser833Thr) c.1204T>A (p.Ser402Thr) n.890T>A n.1644T>A c.2896T>A (p.Ser966Thr) c.2599T>A (p.Ser867Thr) c.817T>A (p.Ser273Thr) c.2407T>A (p.Ser803Thr) c.2131T>A (p.Ser711Thr) c.2395T>A (p.Ser799Thr) c.2593T>A (p.Ser865Thr) c.2998T>A (p.Ser1000Thr) | gnomAD v4 |
15 | g.22903798C>A | CA488526467 | CYFIP1 | c.2490G>T (p.Val830=) c.2496G>T (p.Val832=) c.1203G>T (p.Val401=) n.889G>T n.1643G>T c.2895G>T (p.Val965=) c.2598G>T (p.Val866=) c.816G>T (p.Val272=) c.2406G>T (p.Val802=) c.2130G>T (p.Val710=) c.2394G>T (p.Val798=) c.2592G>T (p.Val864=) c.2997G>T (p.Val999=) | |
15 | g.22903798C>G | CA488526465 | CYFIP1 | c.2490G>C (p.Val830=) c.2496G>C (p.Val832=) c.1203G>C (p.Val401=) n.889G>C n.1643G>C c.2895G>C (p.Val965=) c.2598G>C (p.Val866=) c.816G>C (p.Val272=) c.2406G>C (p.Val802=) c.2130G>C (p.Val710=) c.2394G>C (p.Val798=) c.2592G>C (p.Val864=) c.2997G>C (p.Val999=) | |
15 | g.22903798C>T | CA488526466 | CYFIP1 | c.2490G>A (p.Val830=) c.2496G>A (p.Val832=) c.1203G>A (p.Val401=) n.889G>A n.1643G>A c.2895G>A (p.Val965=) c.2598G>A (p.Val866=) c.816G>A (p.Val272=) c.2406G>A (p.Val802=) c.2130G>A (p.Val710=) c.2394G>A (p.Val798=) c.2592G>A (p.Val864=) c.2997G>A (p.Val999=) | |
15 | g.22903799A= | CA2163978019 | CYFIP1 | c.2489T= (p.Val830=) c.2495T= (p.Val832=) c.1202T= (p.Val401=) n.888T= n.1642T= c.2894T= (p.Val965=) c.2597T= (p.Val866=) c.815T= (p.Val272=) c.2405T= (p.Val802=) c.2129T= (p.Val710=) c.2393T= (p.Val798=) c.2591T= (p.Val864=) c.2996T= (p.Val999=) | |
15 | g.22903799A>C | CA391334491 | CYFIP1 | c.2489T>G (p.Val830Gly) c.2495T>G (p.Val832Gly) c.1202T>G (p.Val401Gly) n.888T>G n.1642T>G c.2894T>G (p.Val965Gly) c.2597T>G (p.Val866Gly) c.815T>G (p.Val272Gly) c.2405T>G (p.Val802Gly) c.2129T>G (p.Val710Gly) c.2393T>G (p.Val798Gly) c.2591T>G (p.Val864Gly) c.2996T>G (p.Val999Gly) | |
15 | g.22903799A>G | CA7425116 | CYFIP1 | c.2489T>C (p.Val830Ala) c.2495T>C (p.Val832Ala) c.1202T>C (p.Val401Ala) n.888T>C n.1642T>C c.2894T>C (p.Val965Ala) c.2597T>C (p.Val866Ala) c.815T>C (p.Val272Ala) c.2405T>C (p.Val802Ala) c.2129T>C (p.Val710Ala) c.2393T>C (p.Val798Ala) c.2591T>C (p.Val864Ala) c.2996T>C (p.Val999Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.22903799A>T | CA391334492 | CYFIP1 | c.2489T>A (p.Val830Glu) c.2495T>A (p.Val832Glu) c.1202T>A (p.Val401Glu) n.888T>A n.1642T>A c.2894T>A (p.Val965Glu) c.2597T>A (p.Val866Glu) c.815T>A (p.Val272Glu) c.2405T>A (p.Val802Glu) c.2129T>A (p.Val710Glu) c.2393T>A (p.Val798Glu) c.2591T>A (p.Val864Glu) c.2996T>A (p.Val999Glu) | |
15 | g.22903800C>A | CA391334495 | CYFIP1 | c.2488G>T (p.Val830Leu) c.2494G>T (p.Val832Leu) c.1201G>T (p.Val401Leu) n.887G>T n.1641G>T c.2893G>T (p.Val965Leu) c.2596G>T (p.Val866Leu) c.814G>T (p.Val272Leu) c.2404G>T (p.Val802Leu) c.2128G>T (p.Val710Leu) c.2392G>T (p.Val798Leu) c.2590G>T (p.Val864Leu) c.2995G>T (p.Val999Leu) | |
15 | g.22903800C= | CA2163978023 | CYFIP1 | c.2488G= (p.Val830=) c.2494G= (p.Val832=) c.1201G= (p.Val401=) n.887G= n.1641G= c.2893G= (p.Val965=) c.2596G= (p.Val866=) c.814G= (p.Val272=) c.2404G= (p.Val802=) c.2128G= (p.Val710=) c.2392G= (p.Val798=) c.2590G= (p.Val864=) c.2995G= (p.Val999=) | |
15 | g.22903800C>G | CA391334497 | CYFIP1 | c.2488G>C (p.Val830Leu) c.2494G>C (p.Val832Leu) c.1201G>C (p.Val401Leu) n.887G>C n.1641G>C c.2893G>C (p.Val965Leu) c.2596G>C (p.Val866Leu) c.814G>C (p.Val272Leu) c.2404G>C (p.Val802Leu) c.2128G>C (p.Val710Leu) c.2392G>C (p.Val798Leu) c.2590G>C (p.Val864Leu) c.2995G>C (p.Val999Leu) | dbSNP |
15 | g.22903800C>T | CA7425115 | CYFIP1 | c.2488G>A (p.Val830Met) c.2494G>A (p.Val832Met) c.1201G>A (p.Val401Met) n.887G>A n.1641G>A c.2893G>A (p.Val965Met) c.2596G>A (p.Val866Met) c.814G>A (p.Val272Met) c.2404G>A (p.Val802Met) c.2128G>A (p.Val710Met) c.2392G>A (p.Val798Met) c.2590G>A (p.Val864Met) c.2995G>A (p.Val999Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903801G>A | CA267616413 | CYFIP1 | c.2487C>T (p.Asn829=) c.2493C>T (p.Asn831=) c.1200C>T (p.Asn400=) n.886C>T n.1640C>T c.2892C>T (p.Asn964=) c.2595C>T (p.Asn865=) c.813C>T (p.Asn271=) c.2403C>T (p.Asn801=) c.2127C>T (p.Asn709=) c.2391C>T (p.Asn797=) c.2589C>T (p.Asn863=) c.2994C>T (p.Asn998=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903801G>C | CA391334500 | CYFIP1 | c.2487C>G (p.Asn829Lys) c.2493C>G (p.Asn831Lys) c.1200C>G (p.Asn400Lys) n.886C>G n.1640C>G c.2892C>G (p.Asn964Lys) c.2595C>G (p.Asn865Lys) c.813C>G (p.Asn271Lys) c.2403C>G (p.Asn801Lys) c.2127C>G (p.Asn709Lys) c.2391C>G (p.Asn797Lys) c.2589C>G (p.Asn863Lys) c.2994C>G (p.Asn998Lys) | |
15 | g.22903801G= | CA2163978027 | CYFIP1 | c.2487C= (p.Asn829=) c.2493C= (p.Asn831=) c.1200C= (p.Asn400=) n.886C= n.1640C= c.2892C= (p.Asn964=) c.2595C= (p.Asn865=) c.813C= (p.Asn271=) c.2403C= (p.Asn801=) c.2127C= (p.Asn709=) c.2391C= (p.Asn797=) c.2589C= (p.Asn863=) c.2994C= (p.Asn998=) | |
15 | g.22903801G>T | CA391334502 | CYFIP1 | c.2487C>A (p.Asn829Lys) c.2493C>A (p.Asn831Lys) c.1200C>A (p.Asn400Lys) n.886C>A n.1640C>A c.2892C>A (p.Asn964Lys) c.2595C>A (p.Asn865Lys) c.813C>A (p.Asn271Lys) c.2403C>A (p.Asn801Lys) c.2127C>A (p.Asn709Lys) c.2391C>A (p.Asn797Lys) c.2589C>A (p.Asn863Lys) c.2994C>A (p.Asn998Lys) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903802T>A | CA391334507 | CYFIP1 | c.2486A>T (p.Asn829Ile) c.2492A>T (p.Asn831Ile) c.1199A>T (p.Asn400Ile) n.885A>T n.1639A>T c.2891A>T (p.Asn964Ile) c.2594A>T (p.Asn865Ile) c.812A>T (p.Asn271Ile) c.2402A>T (p.Asn801Ile) c.2126A>T (p.Asn709Ile) c.2390A>T (p.Asn797Ile) c.2588A>T (p.Asn863Ile) c.2993A>T (p.Asn998Ile) | |
15 | g.22903802T>C | CA391334505 | CYFIP1 | c.2486A>G (p.Asn829Ser) c.2492A>G (p.Asn831Ser) c.1199A>G (p.Asn400Ser) n.885A>G n.1639A>G c.2891A>G (p.Asn964Ser) c.2594A>G (p.Asn865Ser) c.812A>G (p.Asn271Ser) c.2402A>G (p.Asn801Ser) c.2126A>G (p.Asn709Ser) c.2390A>G (p.Asn797Ser) c.2588A>G (p.Asn863Ser) c.2993A>G (p.Asn998Ser) | gnomAD v4 |
15 | g.22903802T>G | CA391334504 | CYFIP1 | c.2486A>C (p.Asn829Thr) c.2492A>C (p.Asn831Thr) c.1199A>C (p.Asn400Thr) n.885A>C n.1639A>C c.2891A>C (p.Asn964Thr) c.2594A>C (p.Asn865Thr) c.812A>C (p.Asn271Thr) c.2402A>C (p.Asn801Thr) c.2126A>C (p.Asn709Thr) c.2390A>C (p.Asn797Thr) c.2588A>C (p.Asn863Thr) c.2993A>C (p.Asn998Thr) | |
15 | g.22903803T>A | CA391334509 | CYFIP1 | c.2485A>T (p.Asn829Tyr) c.2491A>T (p.Asn831Tyr) c.1198A>T (p.Asn400Tyr) n.884A>T n.1638A>T c.2890A>T (p.Asn964Tyr) c.2593A>T (p.Asn865Tyr) c.811A>T (p.Asn271Tyr) c.2401A>T (p.Asn801Tyr) c.2125A>T (p.Asn709Tyr) c.2389A>T (p.Asn797Tyr) c.2587A>T (p.Asn863Tyr) c.2992A>T (p.Asn998Tyr) | |
15 | g.22903803T>C | CA391334511 | CYFIP1 | c.2485A>G (p.Asn829Asp) c.2491A>G (p.Asn831Asp) c.1198A>G (p.Asn400Asp) n.884A>G n.1638A>G c.2890A>G (p.Asn964Asp) c.2593A>G (p.Asn865Asp) c.811A>G (p.Asn271Asp) c.2401A>G (p.Asn801Asp) c.2125A>G (p.Asn709Asp) c.2389A>G (p.Asn797Asp) c.2587A>G (p.Asn863Asp) c.2992A>G (p.Asn998Asp) | dbSNP |
15 | g.22903803T>G | CA391334512 | CYFIP1 | c.2485A>C (p.Asn829His) c.2491A>C (p.Asn831His) c.1198A>C (p.Asn400His) n.884A>C n.1638A>C c.2890A>C (p.Asn964His) c.2593A>C (p.Asn865His) c.811A>C (p.Asn271His) c.2401A>C (p.Asn801His) c.2125A>C (p.Asn709His) c.2389A>C (p.Asn797His) c.2587A>C (p.Asn863His) c.2992A>C (p.Asn998His) |