Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
15 | g.22903804G>A | CA488526468 | CYFIP1 | c.2484C>T (p.His828=) c.2490C>T (p.His830=) c.1197C>T (p.His399=) n.883C>T n.1637C>T c.2889C>T (p.His963=) c.2592C>T (p.His864=) c.810C>T (p.His270=) c.2400C>T (p.His800=) c.2124C>T (p.His708=) c.2388C>T (p.His796=) c.2586C>T (p.His862=) c.2991C>T (p.His997=) | |
15 | g.22903804G>C | CA391334514 | CYFIP1 | c.2484C>G (p.His828Gln) c.2490C>G (p.His830Gln) c.1197C>G (p.His399Gln) n.883C>G n.1637C>G c.2889C>G (p.His963Gln) c.2592C>G (p.His864Gln) c.810C>G (p.His270Gln) c.2400C>G (p.His800Gln) c.2124C>G (p.His708Gln) c.2388C>G (p.His796Gln) c.2586C>G (p.His862Gln) c.2991C>G (p.His997Gln) | |
15 | g.22903804G>T | CA391334516 | CYFIP1 | c.2484C>A (p.His828Gln) c.2490C>A (p.His830Gln) c.1197C>A (p.His399Gln) n.883C>A n.1637C>A c.2889C>A (p.His963Gln) c.2592C>A (p.His864Gln) c.810C>A (p.His270Gln) c.2400C>A (p.His800Gln) c.2124C>A (p.His708Gln) c.2388C>A (p.His796Gln) c.2586C>A (p.His862Gln) c.2991C>A (p.His997Gln) | gnomAD v4 |
15 | g.22903805T>A | CA391334519 | CYFIP1 | c.2483A>T (p.His828Leu) c.2489A>T (p.His830Leu) c.1196A>T (p.His399Leu) n.882A>T n.1636A>T c.2888A>T (p.His963Leu) c.2591A>T (p.His864Leu) c.809A>T (p.His270Leu) c.2399A>T (p.His800Leu) c.2123A>T (p.His708Leu) c.2387A>T (p.His796Leu) c.2585A>T (p.His862Leu) c.2990A>T (p.His997Leu) | |
15 | g.22903805T>C | CA391334520 | CYFIP1 | c.2483A>G (p.His828Arg) c.2489A>G (p.His830Arg) c.1196A>G (p.His399Arg) n.882A>G n.1636A>G c.2888A>G (p.His963Arg) c.2591A>G (p.His864Arg) c.809A>G (p.His270Arg) c.2399A>G (p.His800Arg) c.2123A>G (p.His708Arg) c.2387A>G (p.His796Arg) c.2585A>G (p.His862Arg) c.2990A>G (p.His997Arg) | |
15 | g.22903805T>G | CA391334521 | CYFIP1 | c.2483A>C (p.His828Pro) c.2489A>C (p.His830Pro) c.1196A>C (p.His399Pro) n.882A>C n.1636A>C c.2888A>C (p.His963Pro) c.2591A>C (p.His864Pro) c.809A>C (p.His270Pro) c.2399A>C (p.His800Pro) c.2123A>C (p.His708Pro) c.2387A>C (p.His796Pro) c.2585A>C (p.His862Pro) c.2990A>C (p.His997Pro) | |
15 | g.22903806G>A | CA391334522 | CYFIP1 | c.2482C>T (p.His828Tyr) c.2488C>T (p.His830Tyr) c.1195C>T (p.His399Tyr) n.881C>T n.1635C>T c.2887C>T (p.His963Tyr) c.2590C>T (p.His864Tyr) c.808C>T (p.His270Tyr) c.2398C>T (p.His800Tyr) c.2122C>T (p.His708Tyr) c.2386C>T (p.His796Tyr) c.2584C>T (p.His862Tyr) c.2989C>T (p.His997Tyr) | gnomAD v4 |
15 | g.22903806G>C | CA391334524 | CYFIP1 | c.2482C>G (p.His828Asp) c.2488C>G (p.His830Asp) c.1195C>G (p.His399Asp) n.881C>G n.1635C>G c.2887C>G (p.His963Asp) c.2590C>G (p.His864Asp) c.808C>G (p.His270Asp) c.2398C>G (p.His800Asp) c.2122C>G (p.His708Asp) c.2386C>G (p.His796Asp) c.2584C>G (p.His862Asp) c.2989C>G (p.His997Asp) | |
15 | g.22903806G>T | CA391334526 | CYFIP1 | c.2482C>A (p.His828Asn) c.2488C>A (p.His830Asn) c.1195C>A (p.His399Asn) n.881C>A n.1635C>A c.2887C>A (p.His963Asn) c.2590C>A (p.His864Asn) c.808C>A (p.His270Asn) c.2398C>A (p.His800Asn) c.2122C>A (p.His708Asn) c.2386C>A (p.His796Asn) c.2584C>A (p.His862Asn) c.2989C>A (p.His997Asn) | |
15 | g.22903807G>A | CA488526469 | CYFIP1 | c.2481C>T (p.Asn827=) c.2487C>T (p.Asn829=) c.1194C>T (p.Asn398=) n.880C>T n.1634C>T c.2886C>T (p.Asn962=) c.2589C>T (p.Asn863=) c.807C>T (p.Asn269=) c.2397C>T (p.Asn799=) c.2121C>T (p.Asn707=) c.2385C>T (p.Asn795=) c.2583C>T (p.Asn861=) c.2988C>T (p.Asn996=) | |
15 | g.22903807G>C | CA391334528 | CYFIP1 | c.2481C>G (p.Asn827Lys) c.2487C>G (p.Asn829Lys) c.1194C>G (p.Asn398Lys) n.880C>G n.1634C>G c.2886C>G (p.Asn962Lys) c.2589C>G (p.Asn863Lys) c.807C>G (p.Asn269Lys) c.2397C>G (p.Asn799Lys) c.2121C>G (p.Asn707Lys) c.2385C>G (p.Asn795Lys) c.2583C>G (p.Asn861Lys) c.2988C>G (p.Asn996Lys) | |
15 | g.22903807G>T | CA391334529 | CYFIP1 | c.2481C>A (p.Asn827Lys) c.2487C>A (p.Asn829Lys) c.1194C>A (p.Asn398Lys) n.880C>A n.1634C>A c.2886C>A (p.Asn962Lys) c.2589C>A (p.Asn863Lys) c.807C>A (p.Asn269Lys) c.2397C>A (p.Asn799Lys) c.2121C>A (p.Asn707Lys) c.2385C>A (p.Asn795Lys) c.2583C>A (p.Asn861Lys) c.2988C>A (p.Asn996Lys) | |
15 | g.22903808T>A | CA391334534 | CYFIP1 | c.2480A>T (p.Asn827Ile) c.2486A>T (p.Asn829Ile) c.1193A>T (p.Asn398Ile) n.879A>T n.1633A>T c.2885A>T (p.Asn962Ile) c.2588A>T (p.Asn863Ile) c.806A>T (p.Asn269Ile) c.2396A>T (p.Asn799Ile) c.2120A>T (p.Asn707Ile) c.2384A>T (p.Asn795Ile) c.2582A>T (p.Asn861Ile) c.2987A>T (p.Asn996Ile) | |
15 | g.22903808T>C | CA391334536 | CYFIP1 | c.2480A>G (p.Asn827Ser) c.2486A>G (p.Asn829Ser) c.1193A>G (p.Asn398Ser) n.879A>G n.1633A>G c.2885A>G (p.Asn962Ser) c.2588A>G (p.Asn863Ser) c.806A>G (p.Asn269Ser) c.2396A>G (p.Asn799Ser) c.2120A>G (p.Asn707Ser) c.2384A>G (p.Asn795Ser) c.2582A>G (p.Asn861Ser) c.2987A>G (p.Asn996Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903808T>G | CA391334532 | CYFIP1 | c.2480A>C (p.Asn827Thr) c.2486A>C (p.Asn829Thr) c.1193A>C (p.Asn398Thr) n.879A>C n.1633A>C c.2885A>C (p.Asn962Thr) c.2588A>C (p.Asn863Thr) c.806A>C (p.Asn269Thr) c.2396A>C (p.Asn799Thr) c.2120A>C (p.Asn707Thr) c.2384A>C (p.Asn795Thr) c.2582A>C (p.Asn861Thr) c.2987A>C (p.Asn996Thr) | |
15 | g.22903808T= | CA2163978031 | CYFIP1 | c.2480A= (p.Asn827=) c.2486A= (p.Asn829=) c.1193A= (p.Asn398=) n.879A= n.1633A= c.2885A= (p.Asn962=) c.2588A= (p.Asn863=) c.806A= (p.Asn269=) c.2396A= (p.Asn799=) c.2120A= (p.Asn707=) c.2384A= (p.Asn795=) c.2582A= (p.Asn861=) c.2987A= (p.Asn996=) | |
15 | g.22903809T>A | CA391334538 | CYFIP1 | c.2479A>T (p.Asn827Tyr) c.2485A>T (p.Asn829Tyr) c.1192A>T (p.Asn398Tyr) n.878A>T n.1632A>T c.2884A>T (p.Asn962Tyr) c.2587A>T (p.Asn863Tyr) c.805A>T (p.Asn269Tyr) c.2395A>T (p.Asn799Tyr) c.2119A>T (p.Asn707Tyr) c.2383A>T (p.Asn795Tyr) c.2581A>T (p.Asn861Tyr) c.2986A>T (p.Asn996Tyr) | |
15 | g.22903809T>C | CA391334541 | CYFIP1 | c.2479A>G (p.Asn827Asp) c.2485A>G (p.Asn829Asp) c.1192A>G (p.Asn398Asp) n.878A>G n.1632A>G c.2884A>G (p.Asn962Asp) c.2587A>G (p.Asn863Asp) c.805A>G (p.Asn269Asp) c.2395A>G (p.Asn799Asp) c.2119A>G (p.Asn707Asp) c.2383A>G (p.Asn795Asp) c.2581A>G (p.Asn861Asp) c.2986A>G (p.Asn996Asp) | |
15 | g.22903809T>G | CA391334542 | CYFIP1 | c.2479A>C (p.Asn827His) c.2485A>C (p.Asn829His) c.1192A>C (p.Asn398His) n.878A>C n.1632A>C c.2884A>C (p.Asn962His) c.2587A>C (p.Asn863His) c.805A>C (p.Asn269His) c.2395A>C (p.Asn799His) c.2119A>C (p.Asn707His) c.2383A>C (p.Asn795His) c.2581A>C (p.Asn861His) c.2986A>C (p.Asn996His) | |
15 | g.22903810G>A | CA488526472 | CYFIP1 | c.2478C>T (p.Ala826=) c.2484C>T (p.Ala828=) c.1191C>T (p.Ala397=) n.877C>T n.1631C>T c.2883C>T (p.Ala961=) c.2586C>T (p.Ala862=) c.804C>T (p.Ala268=) c.2394C>T (p.Ala798=) c.2118C>T (p.Ala706=) c.2382C>T (p.Ala794=) c.2580C>T (p.Ala860=) c.2985C>T (p.Ala995=) | |
15 | g.22903810G>C | CA488526471 | CYFIP1 | c.2478C>G (p.Ala826=) c.2484C>G (p.Ala828=) c.1191C>G (p.Ala397=) n.877C>G n.1631C>G c.2883C>G (p.Ala961=) c.2586C>G (p.Ala862=) c.804C>G (p.Ala268=) c.2394C>G (p.Ala798=) c.2118C>G (p.Ala706=) c.2382C>G (p.Ala794=) c.2580C>G (p.Ala860=) c.2985C>G (p.Ala995=) | |
15 | g.22903810G>T | CA488526470 | CYFIP1 | c.2478C>A (p.Ala826=) c.2484C>A (p.Ala828=) c.1191C>A (p.Ala397=) n.877C>A n.1631C>A c.2883C>A (p.Ala961=) c.2586C>A (p.Ala862=) c.804C>A (p.Ala268=) c.2394C>A (p.Ala798=) c.2118C>A (p.Ala706=) c.2382C>A (p.Ala794=) c.2580C>A (p.Ala860=) c.2985C>A (p.Ala995=) | |
15 | g.22903811G>A | CA391334544 | CYFIP1 | c.2477C>T (p.Ala826Val) c.2483C>T (p.Ala828Val) c.1190C>T (p.Ala397Val) n.876C>T n.1630C>T c.2882C>T (p.Ala961Val) c.2585C>T (p.Ala862Val) c.803C>T (p.Ala268Val) c.2393C>T (p.Ala798Val) c.2117C>T (p.Ala706Val) c.2381C>T (p.Ala794Val) c.2579C>T (p.Ala860Val) c.2984C>T (p.Ala995Val) | |
15 | g.22903811G>C | CA391334546 | CYFIP1 | c.2477C>G (p.Ala826Gly) c.2483C>G (p.Ala828Gly) c.1190C>G (p.Ala397Gly) n.876C>G n.1630C>G c.2882C>G (p.Ala961Gly) c.2585C>G (p.Ala862Gly) c.803C>G (p.Ala268Gly) c.2393C>G (p.Ala798Gly) c.2117C>G (p.Ala706Gly) c.2381C>G (p.Ala794Gly) c.2579C>G (p.Ala860Gly) c.2984C>G (p.Ala995Gly) | dbSNP gnomAD v4 |
15 | g.22903811G= | CA2163978034 | CYFIP1 | c.2477C= (p.Ala826=) c.2483C= (p.Ala828=) c.1190C= (p.Ala397=) n.876C= n.1630C= c.2882C= (p.Ala961=) c.2585C= (p.Ala862=) c.803C= (p.Ala268=) c.2393C= (p.Ala798=) c.2117C= (p.Ala706=) c.2381C= (p.Ala794=) c.2579C= (p.Ala860=) c.2984C= (p.Ala995=) | |
15 | g.22903811G>T | CA391334548 | CYFIP1 | c.2477C>A (p.Ala826Asp) c.2483C>A (p.Ala828Asp) c.1190C>A (p.Ala397Asp) n.876C>A n.1630C>A c.2882C>A (p.Ala961Asp) c.2585C>A (p.Ala862Asp) c.803C>A (p.Ala268Asp) c.2393C>A (p.Ala798Asp) c.2117C>A (p.Ala706Asp) c.2381C>A (p.Ala794Asp) c.2579C>A (p.Ala860Asp) c.2984C>A (p.Ala995Asp) | |
15 | g.22903812C>A | CA391334550 | CYFIP1 | c.2476G>T (p.Ala826Ser) c.2482G>T (p.Ala828Ser) c.1189G>T (p.Ala397Ser) n.875G>T n.1629G>T c.2881G>T (p.Ala961Ser) c.2584G>T (p.Ala862Ser) c.802G>T (p.Ala268Ser) c.2392G>T (p.Ala798Ser) c.2116G>T (p.Ala706Ser) c.2380G>T (p.Ala794Ser) c.2578G>T (p.Ala860Ser) c.2983G>T (p.Ala995Ser) | gnomAD v3 gnomAD v4 |
15 | g.22903812C= | CA2163978036 | CYFIP1 | c.2476G= (p.Ala826=) c.2482G= (p.Ala828=) c.1189G= (p.Ala397=) n.875G= n.1629G= c.2881G= (p.Ala961=) c.2584G= (p.Ala862=) c.802G= (p.Ala268=) c.2392G= (p.Ala798=) c.2116G= (p.Ala706=) c.2380G= (p.Ala794=) c.2578G= (p.Ala860=) c.2983G= (p.Ala995=) | |
15 | g.22903812C>G | CA391334551 | CYFIP1 | c.2476G>C (p.Ala826Pro) c.2482G>C (p.Ala828Pro) c.1189G>C (p.Ala397Pro) n.875G>C n.1629G>C c.2881G>C (p.Ala961Pro) c.2584G>C (p.Ala862Pro) c.802G>C (p.Ala268Pro) c.2392G>C (p.Ala798Pro) c.2116G>C (p.Ala706Pro) c.2380G>C (p.Ala794Pro) c.2578G>C (p.Ala860Pro) c.2983G>C (p.Ala995Pro) | |
15 | g.22903812C>T | CA7425114 | CYFIP1 | c.2476G>A (p.Ala826Thr) c.2482G>A (p.Ala828Thr) c.1189G>A (p.Ala397Thr) n.875G>A n.1629G>A c.2881G>A (p.Ala961Thr) c.2584G>A (p.Ala862Thr) c.802G>A (p.Ala268Thr) c.2392G>A (p.Ala798Thr) c.2116G>A (p.Ala706Thr) c.2380G>A (p.Ala794Thr) c.2578G>A (p.Ala860Thr) c.2983G>A (p.Ala995Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903813C>A | CA391334554 | CYFIP1 | c.2475G>T (p.Glu825Asp) c.2481G>T (p.Glu827Asp) c.1188G>T (p.Glu396Asp) n.874G>T n.1628G>T c.2880G>T (p.Glu960Asp) c.2583G>T (p.Glu861Asp) c.801G>T (p.Glu267Asp) c.2391G>T (p.Glu797Asp) c.2115G>T (p.Glu705Asp) c.2379G>T (p.Glu793Asp) c.2577G>T (p.Glu859Asp) c.2982G>T (p.Glu994Asp) | |
15 | g.22903813C= | CA2163978038 | CYFIP1 | c.2475G= (p.Glu825=) c.2481G= (p.Glu827=) c.1188G= (p.Glu396=) n.874G= n.1628G= c.2880G= (p.Glu960=) c.2583G= (p.Glu861=) c.801G= (p.Glu267=) c.2391G= (p.Glu797=) c.2115G= (p.Glu705=) c.2379G= (p.Glu793=) c.2577G= (p.Glu859=) c.2982G= (p.Glu994=) | |
15 | g.22903813C>G | CA391334555 | CYFIP1 | c.2475G>C (p.Glu825Asp) c.2481G>C (p.Glu827Asp) c.1188G>C (p.Glu396Asp) n.874G>C n.1628G>C c.2880G>C (p.Glu960Asp) c.2583G>C (p.Glu861Asp) c.801G>C (p.Glu267Asp) c.2391G>C (p.Glu797Asp) c.2115G>C (p.Glu705Asp) c.2379G>C (p.Glu793Asp) c.2577G>C (p.Glu859Asp) c.2982G>C (p.Glu994Asp) | |
15 | g.22903813C>T | CA488526473 | CYFIP1 | c.2475G>A (p.Glu825=) c.2481G>A (p.Glu827=) c.1188G>A (p.Glu396=) n.874G>A n.1628G>A c.2880G>A (p.Glu960=) c.2583G>A (p.Glu861=) c.801G>A (p.Glu267=) c.2391G>A (p.Glu797=) c.2115G>A (p.Glu705=) c.2379G>A (p.Glu793=) c.2577G>A (p.Glu859=) c.2982G>A (p.Glu994=) | dbSNP gnomAD v4 |
15 | g.22903814T>A | CA391334557 | CYFIP1 | c.2474A>T (p.Glu825Val) c.2480A>T (p.Glu827Val) c.1187A>T (p.Glu396Val) n.873A>T n.1627A>T c.2879A>T (p.Glu960Val) c.2582A>T (p.Glu861Val) c.800A>T (p.Glu267Val) c.2390A>T (p.Glu797Val) c.2114A>T (p.Glu705Val) c.2378A>T (p.Glu793Val) c.2576A>T (p.Glu859Val) c.2981A>T (p.Glu994Val) | |
15 | g.22903814T>C | CA391334558 | CYFIP1 | c.2474A>G (p.Glu825Gly) c.2480A>G (p.Glu827Gly) c.1187A>G (p.Glu396Gly) n.873A>G n.1627A>G c.2879A>G (p.Glu960Gly) c.2582A>G (p.Glu861Gly) c.800A>G (p.Glu267Gly) c.2390A>G (p.Glu797Gly) c.2114A>G (p.Glu705Gly) c.2378A>G (p.Glu793Gly) c.2576A>G (p.Glu859Gly) c.2981A>G (p.Glu994Gly) | dbSNP |
15 | g.22903814T>G | CA391334559 | CYFIP1 | c.2474A>C (p.Glu825Ala) c.2480A>C (p.Glu827Ala) c.1187A>C (p.Glu396Ala) n.873A>C n.1627A>C c.2879A>C (p.Glu960Ala) c.2582A>C (p.Glu861Ala) c.800A>C (p.Glu267Ala) c.2390A>C (p.Glu797Ala) c.2114A>C (p.Glu705Ala) c.2378A>C (p.Glu793Ala) c.2576A>C (p.Glu859Ala) c.2981A>C (p.Glu994Ala) | |
15 | g.22903815C>A | CA391334562 | CYFIP1 | c.2473G>T (p.Glu825Ter) c.2479G>T (p.Glu827Ter) c.1186G>T (p.Glu396Ter) n.872G>T n.1626G>T c.2878G>T (p.Glu960Ter) c.2581G>T (p.Glu861Ter) c.799G>T (p.Glu267Ter) c.2389G>T (p.Glu797Ter) c.2113G>T (p.Glu705Ter) c.2377G>T (p.Glu793Ter) c.2575G>T (p.Glu859Ter) c.2980G>T (p.Glu994Ter) | |
15 | g.22903815C>G | CA391334561 | CYFIP1 | c.2473G>C (p.Glu825Gln) c.2479G>C (p.Glu827Gln) c.1186G>C (p.Glu396Gln) n.872G>C n.1626G>C c.2878G>C (p.Glu960Gln) c.2581G>C (p.Glu861Gln) c.799G>C (p.Glu267Gln) c.2389G>C (p.Glu797Gln) c.2113G>C (p.Glu705Gln) c.2377G>C (p.Glu793Gln) c.2575G>C (p.Glu859Gln) c.2980G>C (p.Glu994Gln) | |
15 | g.22903815C>T | CA391334560 | CYFIP1 | c.2473G>A (p.Glu825Lys) c.2479G>A (p.Glu827Lys) c.1186G>A (p.Glu396Lys) n.872G>A n.1626G>A c.2878G>A (p.Glu960Lys) c.2581G>A (p.Glu861Lys) c.799G>A (p.Glu267Lys) c.2389G>A (p.Glu797Lys) c.2113G>A (p.Glu705Lys) c.2377G>A (p.Glu793Lys) c.2575G>A (p.Glu859Lys) c.2980G>A (p.Glu994Lys) | |
15 | g.22903816C>A | CA267616451 | CYFIP1 | c.2472G>T (p.Arg824=) c.2478G>T (p.Arg826=) c.1185G>T (p.Arg395=) n.871G>T n.1625G>T c.2877G>T (p.Arg959=) c.2580G>T (p.Arg860=) c.798G>T (p.Arg266=) c.2388G>T (p.Arg796=) c.2112G>T (p.Arg704=) c.2376G>T (p.Arg792=) c.2574G>T (p.Arg858=) c.2979G>T (p.Arg993=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903816C= | CA2163978040 | CYFIP1 | c.2472G= (p.Arg824=) c.2478G= (p.Arg826=) c.1185G= (p.Arg395=) n.871G= n.1625G= c.2877G= (p.Arg959=) c.2580G= (p.Arg860=) c.798G= (p.Arg266=) c.2388G= (p.Arg796=) c.2112G= (p.Arg704=) c.2376G= (p.Arg792=) c.2574G= (p.Arg858=) c.2979G= (p.Arg993=) | |
15 | g.22903816C>G | CA488526474 | CYFIP1 | c.2472G>C (p.Arg824=) c.2478G>C (p.Arg826=) c.1185G>C (p.Arg395=) n.871G>C n.1625G>C c.2877G>C (p.Arg959=) c.2580G>C (p.Arg860=) c.798G>C (p.Arg266=) c.2388G>C (p.Arg796=) c.2112G>C (p.Arg704=) c.2376G>C (p.Arg792=) c.2574G>C (p.Arg858=) c.2979G>C (p.Arg993=) | |
15 | g.22903816C>T | CA488526475 | CYFIP1 | c.2472G>A (p.Arg824=) c.2478G>A (p.Arg826=) c.1185G>A (p.Arg395=) n.871G>A n.1625G>A c.2877G>A (p.Arg959=) c.2580G>A (p.Arg860=) c.798G>A (p.Arg266=) c.2388G>A (p.Arg796=) c.2112G>A (p.Arg704=) c.2376G>A (p.Arg792=) c.2574G>A (p.Arg858=) c.2979G>A (p.Arg993=) | |
15 | g.22903817C>A | CA391334565 | CYFIP1 | c.2471G>T (p.Arg824Leu) c.2477G>T (p.Arg826Leu) c.1184G>T (p.Arg395Leu) n.870G>T n.1624G>T c.2876G>T (p.Arg959Leu) c.2579G>T (p.Arg860Leu) c.797G>T (p.Arg266Leu) c.2387G>T (p.Arg796Leu) c.2111G>T (p.Arg704Leu) c.2375G>T (p.Arg792Leu) c.2573G>T (p.Arg858Leu) c.2978G>T (p.Arg993Leu) | |
15 | g.22903817C= | CA2163978043 | CYFIP1 | c.2471G= (p.Arg824=) c.2477G= (p.Arg826=) c.1184G= (p.Arg395=) n.870G= n.1624G= c.2876G= (p.Arg959=) c.2579G= (p.Arg860=) c.797G= (p.Arg266=) c.2387G= (p.Arg796=) c.2111G= (p.Arg704=) c.2375G= (p.Arg792=) c.2573G= (p.Arg858=) c.2978G= (p.Arg993=) | |
15 | g.22903817C>G | CA391334567 | CYFIP1 | c.2471G>C (p.Arg824Pro) c.2477G>C (p.Arg826Pro) c.1184G>C (p.Arg395Pro) n.870G>C n.1624G>C c.2876G>C (p.Arg959Pro) c.2579G>C (p.Arg860Pro) c.797G>C (p.Arg266Pro) c.2387G>C (p.Arg796Pro) c.2111G>C (p.Arg704Pro) c.2375G>C (p.Arg792Pro) c.2573G>C (p.Arg858Pro) c.2978G>C (p.Arg993Pro) | |
15 | g.22903817C>T | CA7425113 | CYFIP1 | c.2471G>A (p.Arg824Gln) c.2477G>A (p.Arg826Gln) c.1184G>A (p.Arg395Gln) n.870G>A n.1624G>A c.2876G>A (p.Arg959Gln) c.2579G>A (p.Arg860Gln) c.797G>A (p.Arg266Gln) c.2387G>A (p.Arg796Gln) c.2111G>A (p.Arg704Gln) c.2375G>A (p.Arg792Gln) c.2573G>A (p.Arg858Gln) c.2978G>A (p.Arg993Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903818G>A | CA7425112 | CYFIP1 | c.2470C>T (p.Arg824Trp) c.2476C>T (p.Arg826Trp) c.1183C>T (p.Arg395Trp) n.869C>T n.1623C>T c.2875C>T (p.Arg959Trp) c.2578C>T (p.Arg860Trp) c.796C>T (p.Arg266Trp) c.2386C>T (p.Arg796Trp) c.2110C>T (p.Arg704Trp) c.2374C>T (p.Arg792Trp) c.2572C>T (p.Arg858Trp) c.2977C>T (p.Arg993Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.22903818G>C | CA391334570 | CYFIP1 | c.2470C>G (p.Arg824Gly) c.2476C>G (p.Arg826Gly) c.1183C>G (p.Arg395Gly) n.869C>G n.1623C>G c.2875C>G (p.Arg959Gly) c.2578C>G (p.Arg860Gly) c.796C>G (p.Arg266Gly) c.2386C>G (p.Arg796Gly) c.2110C>G (p.Arg704Gly) c.2374C>G (p.Arg792Gly) c.2572C>G (p.Arg858Gly) c.2977C>G (p.Arg993Gly) | |
15 | g.22903818G= | CA2163978048 | CYFIP1 | c.2470C= (p.Arg824=) c.2476C= (p.Arg826=) c.1183C= (p.Arg395=) n.869C= n.1623C= c.2875C= (p.Arg959=) c.2578C= (p.Arg860=) c.796C= (p.Arg266=) c.2386C= (p.Arg796=) c.2110C= (p.Arg704=) c.2374C= (p.Arg792=) c.2572C= (p.Arg858=) c.2977C= (p.Arg993=) | |
15 | g.22903818G>T | CA488526476 | CYFIP1 | c.2470C>A (p.Arg824=) c.2476C>A (p.Arg826=) c.1183C>A (p.Arg395=) n.869C>A n.1623C>A c.2875C>A (p.Arg959=) c.2578C>A (p.Arg860=) c.796C>A (p.Arg266=) c.2386C>A (p.Arg796=) c.2110C>A (p.Arg704=) c.2374C>A (p.Arg792=) c.2572C>A (p.Arg858=) c.2977C>A (p.Arg993=) | |
15 | g.22903819G>A | CA488526477 | CYFIP1 | c.2469C>T (p.Phe823=) c.2475C>T (p.Phe825=) c.1182C>T (p.Phe394=) n.868C>T n.1622C>T c.2874C>T (p.Phe958=) c.2577C>T (p.Phe859=) c.795C>T (p.Phe265=) c.2385C>T (p.Phe795=) c.2109C>T (p.Phe703=) c.2373C>T (p.Phe791=) c.2571C>T (p.Phe857=) c.2976C>T (p.Phe992=) | |
15 | g.22903819G>C | CA391334572 | CYFIP1 | c.2469C>G (p.Phe823Leu) c.2475C>G (p.Phe825Leu) c.1182C>G (p.Phe394Leu) n.868C>G n.1622C>G c.2874C>G (p.Phe958Leu) c.2577C>G (p.Phe859Leu) c.795C>G (p.Phe265Leu) c.2385C>G (p.Phe795Leu) c.2109C>G (p.Phe703Leu) c.2373C>G (p.Phe791Leu) c.2571C>G (p.Phe857Leu) c.2976C>G (p.Phe992Leu) | |
15 | g.22903819G= | CA2163978050 | CYFIP1 | c.2469C= (p.Phe823=) c.2475C= (p.Phe825=) c.1182C= (p.Phe394=) n.868C= n.1622C= c.2874C= (p.Phe958=) c.2577C= (p.Phe859=) c.795C= (p.Phe265=) c.2385C= (p.Phe795=) c.2109C= (p.Phe703=) c.2373C= (p.Phe791=) c.2571C= (p.Phe857=) c.2976C= (p.Phe992=) | |
15 | g.22903819G>T | CA7425111 | CYFIP1 | c.2469C>A (p.Phe823Leu) c.2475C>A (p.Phe825Leu) c.1182C>A (p.Phe394Leu) n.868C>A n.1622C>A c.2874C>A (p.Phe958Leu) c.2577C>A (p.Phe859Leu) c.795C>A (p.Phe265Leu) c.2385C>A (p.Phe795Leu) c.2109C>A (p.Phe703Leu) c.2373C>A (p.Phe791Leu) c.2571C>A (p.Phe857Leu) c.2976C>A (p.Phe992Leu) | dbSNP ExAC |
15 | g.22903820A>C | CA391334575 | CYFIP1 | c.2468T>G (p.Phe823Cys) c.2474T>G (p.Phe825Cys) c.1181T>G (p.Phe394Cys) n.867T>G n.1621T>G c.2873T>G (p.Phe958Cys) c.2576T>G (p.Phe859Cys) c.794T>G (p.Phe265Cys) c.2384T>G (p.Phe795Cys) c.2108T>G (p.Phe703Cys) c.2372T>G (p.Phe791Cys) c.2570T>G (p.Phe857Cys) c.2975T>G (p.Phe992Cys) | |
15 | g.22903820A>G | CA391334576 | CYFIP1 | c.2468T>C (p.Phe823Ser) c.2474T>C (p.Phe825Ser) c.1181T>C (p.Phe394Ser) n.867T>C n.1621T>C c.2873T>C (p.Phe958Ser) c.2576T>C (p.Phe859Ser) c.794T>C (p.Phe265Ser) c.2384T>C (p.Phe795Ser) c.2108T>C (p.Phe703Ser) c.2372T>C (p.Phe791Ser) c.2570T>C (p.Phe857Ser) c.2975T>C (p.Phe992Ser) | |
15 | g.22903820A>T | CA391334578 | CYFIP1 | c.2468T>A (p.Phe823Tyr) c.2474T>A (p.Phe825Tyr) c.1181T>A (p.Phe394Tyr) n.867T>A n.1621T>A c.2873T>A (p.Phe958Tyr) c.2576T>A (p.Phe859Tyr) c.794T>A (p.Phe265Tyr) c.2384T>A (p.Phe795Tyr) c.2108T>A (p.Phe703Tyr) c.2372T>A (p.Phe791Tyr) c.2570T>A (p.Phe857Tyr) c.2975T>A (p.Phe992Tyr) | |
15 | g.22903821A>C | CA391334581 | CYFIP1 | c.2467T>G (p.Phe823Val) c.2473T>G (p.Phe825Val) c.1180T>G (p.Phe394Val) n.866T>G n.1620T>G c.2872T>G (p.Phe958Val) c.2575T>G (p.Phe859Val) c.793T>G (p.Phe265Val) c.2383T>G (p.Phe795Val) c.2107T>G (p.Phe703Val) c.2371T>G (p.Phe791Val) c.2569T>G (p.Phe857Val) c.2974T>G (p.Phe992Val) | |
15 | g.22903821A>G | CA391334582 | CYFIP1 | c.2467T>C (p.Phe823Leu) c.2473T>C (p.Phe825Leu) c.1180T>C (p.Phe394Leu) n.866T>C n.1620T>C c.2872T>C (p.Phe958Leu) c.2575T>C (p.Phe859Leu) c.793T>C (p.Phe265Leu) c.2383T>C (p.Phe795Leu) c.2107T>C (p.Phe703Leu) c.2371T>C (p.Phe791Leu) c.2569T>C (p.Phe857Leu) c.2974T>C (p.Phe992Leu) | |
15 | g.22903821A>T | CA391334583 | CYFIP1 | c.2467T>A (p.Phe823Ile) c.2473T>A (p.Phe825Ile) c.1180T>A (p.Phe394Ile) n.866T>A n.1620T>A c.2872T>A (p.Phe958Ile) c.2575T>A (p.Phe859Ile) c.793T>A (p.Phe265Ile) c.2383T>A (p.Phe795Ile) c.2107T>A (p.Phe703Ile) c.2371T>A (p.Phe791Ile) c.2569T>A (p.Phe857Ile) c.2974T>A (p.Phe992Ile) | |
15 | g.22903822C>A | CA391334587 | CYFIP1 | c.2466G>T (p.Met822Ile) c.2472G>T (p.Met824Ile) c.1179G>T (p.Met393Ile) n.865G>T n.1619G>T c.2871G>T (p.Met957Ile) c.2574G>T (p.Met858Ile) c.792G>T (p.Met264Ile) c.2382G>T (p.Met794Ile) c.2106G>T (p.Met702Ile) c.2370G>T (p.Met790Ile) c.2568G>T (p.Met856Ile) c.2973G>T (p.Met991Ile) | |
15 | g.22903822C= | CA2163978052 | CYFIP1 | c.2466G= (p.Met822=) c.2472G= (p.Met824=) c.1179G= (p.Met393=) n.865G= n.1619G= c.2871G= (p.Met957=) c.2574G= (p.Met858=) c.792G= (p.Met264=) c.2382G= (p.Met794=) c.2106G= (p.Met702=) c.2370G= (p.Met790=) c.2568G= (p.Met856=) c.2973G= (p.Met991=) | |
15 | g.22903822C>G | CA391334588 | CYFIP1 | c.2466G>C (p.Met822Ile) c.2472G>C (p.Met824Ile) c.1179G>C (p.Met393Ile) n.865G>C n.1619G>C c.2871G>C (p.Met957Ile) c.2574G>C (p.Met858Ile) c.792G>C (p.Met264Ile) c.2382G>C (p.Met794Ile) c.2106G>C (p.Met702Ile) c.2370G>C (p.Met790Ile) c.2568G>C (p.Met856Ile) c.2973G>C (p.Met991Ile) | |
15 | g.22903822C>T | CA391334586 | CYFIP1 | c.2466G>A (p.Met822Ile) c.2472G>A (p.Met824Ile) c.1179G>A (p.Met393Ile) n.865G>A n.1619G>A c.2871G>A (p.Met957Ile) c.2574G>A (p.Met858Ile) c.792G>A (p.Met264Ile) c.2382G>A (p.Met794Ile) c.2106G>A (p.Met702Ile) c.2370G>A (p.Met790Ile) c.2568G>A (p.Met856Ile) c.2973G>A (p.Met991Ile) | dbSNP gnomAD v4 |
15 | g.22903823A= | CA2163978055 | CYFIP1 | c.2465T= (p.Met822=) c.2471T= (p.Met824=) c.1178T= (p.Met393=) n.864T= n.1618T= c.2870T= (p.Met957=) c.2573T= (p.Met858=) c.791T= (p.Met264=) c.2381T= (p.Met794=) c.2105T= (p.Met702=) c.2369T= (p.Met790=) c.2567T= (p.Met856=) c.2972T= (p.Met991=) | |
15 | g.22903823A>C | CA391334590 | CYFIP1 | c.2465T>G (p.Met822Arg) c.2471T>G (p.Met824Arg) c.1178T>G (p.Met393Arg) n.864T>G n.1618T>G c.2870T>G (p.Met957Arg) c.2573T>G (p.Met858Arg) c.791T>G (p.Met264Arg) c.2381T>G (p.Met794Arg) c.2105T>G (p.Met702Arg) c.2369T>G (p.Met790Arg) c.2567T>G (p.Met856Arg) c.2972T>G (p.Met991Arg) | |
15 | g.22903823A>G | CA391334592 | CYFIP1 | c.2465T>C (p.Met822Thr) c.2471T>C (p.Met824Thr) c.1178T>C (p.Met393Thr) n.864T>C n.1618T>C c.2870T>C (p.Met957Thr) c.2573T>C (p.Met858Thr) c.791T>C (p.Met264Thr) c.2381T>C (p.Met794Thr) c.2105T>C (p.Met702Thr) c.2369T>C (p.Met790Thr) c.2567T>C (p.Met856Thr) c.2972T>C (p.Met991Thr) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903823A>T | CA391334594 | CYFIP1 | c.2465T>A (p.Met822Lys) c.2471T>A (p.Met824Lys) c.1178T>A (p.Met393Lys) n.864T>A n.1618T>A c.2870T>A (p.Met957Lys) c.2573T>A (p.Met858Lys) c.791T>A (p.Met264Lys) c.2381T>A (p.Met794Lys) c.2105T>A (p.Met702Lys) c.2369T>A (p.Met790Lys) c.2567T>A (p.Met856Lys) c.2972T>A (p.Met991Lys) | |
15 | g.22903824T>A | CA391334596 | CYFIP1 | c.2464A>T (p.Met822Leu) c.2470A>T (p.Met824Leu) c.1177A>T (p.Met393Leu) n.863A>T n.1617A>T c.2869A>T (p.Met957Leu) c.2572A>T (p.Met858Leu) c.790A>T (p.Met264Leu) c.2380A>T (p.Met794Leu) c.2104A>T (p.Met702Leu) c.2368A>T (p.Met790Leu) c.2566A>T (p.Met856Leu) c.2971A>T (p.Met991Leu) | |
15 | g.22903824T>C | CA7425110 | CYFIP1 | c.2464A>G (p.Met822Val) c.2470A>G (p.Met824Val) c.1177A>G (p.Met393Val) n.863A>G n.1617A>G c.2869A>G (p.Met957Val) c.2572A>G (p.Met858Val) c.790A>G (p.Met264Val) c.2380A>G (p.Met794Val) c.2104A>G (p.Met702Val) c.2368A>G (p.Met790Val) c.2566A>G (p.Met856Val) c.2971A>G (p.Met991Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903824T>G | CA391334598 | CYFIP1 | c.2464A>C (p.Met822Leu) c.2470A>C (p.Met824Leu) c.1177A>C (p.Met393Leu) n.863A>C n.1617A>C c.2869A>C (p.Met957Leu) c.2572A>C (p.Met858Leu) c.790A>C (p.Met264Leu) c.2380A>C (p.Met794Leu) c.2104A>C (p.Met702Leu) c.2368A>C (p.Met790Leu) c.2566A>C (p.Met856Leu) c.2971A>C (p.Met991Leu) | gnomAD v4 |
15 | g.22903824T= | CA2163978058 | CYFIP1 | c.2464A= (p.Met822=) c.2470A= (p.Met824=) c.1177A= (p.Met393=) n.863A= n.1617A= c.2869A= (p.Met957=) c.2572A= (p.Met858=) c.790A= (p.Met264=) c.2380A= (p.Met794=) c.2104A= (p.Met702=) c.2368A= (p.Met790=) c.2566A= (p.Met856=) c.2971A= (p.Met991=) | |
15 | g.22903825G>A | CA488526478 | CYFIP1 | c.2463C>T (p.Ala821=) c.2469C>T (p.Ala823=) c.1176C>T (p.Ala392=) n.862C>T n.1616C>T c.2868C>T (p.Ala956=) c.2571C>T (p.Ala857=) c.789C>T (p.Ala263=) c.2379C>T (p.Ala793=) c.2103C>T (p.Ala701=) c.2367C>T (p.Ala789=) c.2565C>T (p.Ala855=) c.2970C>T (p.Ala990=) | |
15 | g.22903825G>C | CA488526479 | CYFIP1 | c.2463C>G (p.Ala821=) c.2469C>G (p.Ala823=) c.1176C>G (p.Ala392=) n.862C>G n.1616C>G c.2868C>G (p.Ala956=) c.2571C>G (p.Ala857=) c.789C>G (p.Ala263=) c.2379C>G (p.Ala793=) c.2103C>G (p.Ala701=) c.2367C>G (p.Ala789=) c.2565C>G (p.Ala855=) c.2970C>G (p.Ala990=) | |
15 | g.22903825G>T | CA488526480 | CYFIP1 | c.2463C>A (p.Ala821=) c.2469C>A (p.Ala823=) c.1176C>A (p.Ala392=) n.862C>A n.1616C>A c.2868C>A (p.Ala956=) c.2571C>A (p.Ala857=) c.789C>A (p.Ala263=) c.2379C>A (p.Ala793=) c.2103C>A (p.Ala701=) c.2367C>A (p.Ala789=) c.2565C>A (p.Ala855=) c.2970C>A (p.Ala990=) | |
15 | g.22903826G>A | CA391334600 | CYFIP1 | c.2462C>T (p.Ala821Val) c.2468C>T (p.Ala823Val) c.1175C>T (p.Ala392Val) n.861C>T n.1615C>T c.2867C>T (p.Ala956Val) c.2570C>T (p.Ala857Val) c.788C>T (p.Ala263Val) c.2378C>T (p.Ala793Val) c.2102C>T (p.Ala701Val) c.2366C>T (p.Ala789Val) c.2564C>T (p.Ala855Val) c.2969C>T (p.Ala990Val) | |
15 | g.22903826G>C | CA391334602 | CYFIP1 | c.2462C>G (p.Ala821Gly) c.2468C>G (p.Ala823Gly) c.1175C>G (p.Ala392Gly) n.861C>G n.1615C>G c.2867C>G (p.Ala956Gly) c.2570C>G (p.Ala857Gly) c.788C>G (p.Ala263Gly) c.2378C>G (p.Ala793Gly) c.2102C>G (p.Ala701Gly) c.2366C>G (p.Ala789Gly) c.2564C>G (p.Ala855Gly) c.2969C>G (p.Ala990Gly) | |
15 | g.22903826G>T | CA391334604 | CYFIP1 | c.2462C>A (p.Ala821Asp) c.2468C>A (p.Ala823Asp) c.1175C>A (p.Ala392Asp) n.861C>A n.1615C>A c.2867C>A (p.Ala956Asp) c.2570C>A (p.Ala857Asp) c.788C>A (p.Ala263Asp) c.2378C>A (p.Ala793Asp) c.2102C>A (p.Ala701Asp) c.2366C>A (p.Ala789Asp) c.2564C>A (p.Ala855Asp) c.2969C>A (p.Ala990Asp) | |
15 | g.22903827C>A | CA391334605 | CYFIP1 | c.2461G>T (p.Ala821Ser) c.2467G>T (p.Ala823Ser) c.1174G>T (p.Ala392Ser) n.860G>T n.1614G>T c.2866G>T (p.Ala956Ser) c.2569G>T (p.Ala857Ser) c.787G>T (p.Ala263Ser) c.2377G>T (p.Ala793Ser) c.2101G>T (p.Ala701Ser) c.2365G>T (p.Ala789Ser) c.2563G>T (p.Ala855Ser) c.2968G>T (p.Ala990Ser) | |
15 | g.22903827C= | CA2163978061 | CYFIP1 | c.2461G= (p.Ala821=) c.2467G= (p.Ala823=) c.1174G= (p.Ala392=) n.860G= n.1614G= c.2866G= (p.Ala956=) c.2569G= (p.Ala857=) c.787G= (p.Ala263=) c.2377G= (p.Ala793=) c.2101G= (p.Ala701=) c.2365G= (p.Ala789=) c.2563G= (p.Ala855=) c.2968G= (p.Ala990=) | |
15 | g.22903827C>G | CA391334606 | CYFIP1 | c.2461G>C (p.Ala821Pro) c.2467G>C (p.Ala823Pro) c.1174G>C (p.Ala392Pro) n.860G>C n.1614G>C c.2866G>C (p.Ala956Pro) c.2569G>C (p.Ala857Pro) c.787G>C (p.Ala263Pro) c.2377G>C (p.Ala793Pro) c.2101G>C (p.Ala701Pro) c.2365G>C (p.Ala789Pro) c.2563G>C (p.Ala855Pro) c.2968G>C (p.Ala990Pro) | |
15 | g.22903827C>T | CA7425109 | CYFIP1 | c.2461G>A (p.Ala821Thr) c.2467G>A (p.Ala823Thr) c.1174G>A (p.Ala392Thr) n.860G>A n.1614G>A c.2866G>A (p.Ala956Thr) c.2569G>A (p.Ala857Thr) c.787G>A (p.Ala263Thr) c.2377G>A (p.Ala793Thr) c.2101G>A (p.Ala701Thr) c.2365G>A (p.Ala789Thr) c.2563G>A (p.Ala855Thr) c.2968G>A (p.Ala990Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903828G>A | CA7425108 | CYFIP1 | c.2460C>T (p.Asp820=) c.2466C>T (p.Asp822=) c.1173C>T (p.Asp391=) n.859C>T n.1613C>T c.2865C>T (p.Asp955=) c.2568C>T (p.Asp856=) c.786C>T (p.Asp262=) c.2376C>T (p.Asp792=) c.2100C>T (p.Asp700=) c.2364C>T (p.Asp788=) c.2562C>T (p.Asp854=) c.2967C>T (p.Asp989=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903828G>C | CA391334611 | CYFIP1 | c.2460C>G (p.Asp820Glu) c.2466C>G (p.Asp822Glu) c.1173C>G (p.Asp391Glu) n.859C>G n.1613C>G c.2865C>G (p.Asp955Glu) c.2568C>G (p.Asp856Glu) c.786C>G (p.Asp262Glu) c.2376C>G (p.Asp792Glu) c.2100C>G (p.Asp700Glu) c.2364C>G (p.Asp788Glu) c.2562C>G (p.Asp854Glu) c.2967C>G (p.Asp989Glu) | |
15 | g.22903828G= | CA2163978064 | CYFIP1 | c.2460C= (p.Asp820=) c.2466C= (p.Asp822=) c.1173C= (p.Asp391=) n.859C= n.1613C= c.2865C= (p.Asp955=) c.2568C= (p.Asp856=) c.786C= (p.Asp262=) c.2376C= (p.Asp792=) c.2100C= (p.Asp700=) c.2364C= (p.Asp788=) c.2562C= (p.Asp854=) c.2967C= (p.Asp989=) | |
15 | g.22903828G>T | CA391334610 | CYFIP1 | c.2460C>A (p.Asp820Glu) c.2466C>A (p.Asp822Glu) c.1173C>A (p.Asp391Glu) n.859C>A n.1613C>A c.2865C>A (p.Asp955Glu) c.2568C>A (p.Asp856Glu) c.786C>A (p.Asp262Glu) c.2376C>A (p.Asp792Glu) c.2100C>A (p.Asp700Glu) c.2364C>A (p.Asp788Glu) c.2562C>A (p.Asp854Glu) c.2967C>A (p.Asp989Glu) | |
15 | g.22903829T>A | CA391334614 | CYFIP1 | c.2459A>T (p.Asp820Val) c.2465A>T (p.Asp822Val) c.1172A>T (p.Asp391Val) n.858A>T n.1612A>T c.2864A>T (p.Asp955Val) c.2567A>T (p.Asp856Val) c.785A>T (p.Asp262Val) c.2375A>T (p.Asp792Val) c.2099A>T (p.Asp700Val) c.2363A>T (p.Asp788Val) c.2561A>T (p.Asp854Val) c.2966A>T (p.Asp989Val) | |
15 | g.22903829T>C | CA391334616 | CYFIP1 | c.2459A>G (p.Asp820Gly) c.2465A>G (p.Asp822Gly) c.1172A>G (p.Asp391Gly) n.858A>G n.1612A>G c.2864A>G (p.Asp955Gly) c.2567A>G (p.Asp856Gly) c.785A>G (p.Asp262Gly) c.2375A>G (p.Asp792Gly) c.2099A>G (p.Asp700Gly) c.2363A>G (p.Asp788Gly) c.2561A>G (p.Asp854Gly) c.2966A>G (p.Asp989Gly) | |
15 | g.22903829T>G | CA391334617 | CYFIP1 | c.2459A>C (p.Asp820Ala) c.2465A>C (p.Asp822Ala) c.1172A>C (p.Asp391Ala) n.858A>C n.1612A>C c.2864A>C (p.Asp955Ala) c.2567A>C (p.Asp856Ala) c.785A>C (p.Asp262Ala) c.2375A>C (p.Asp792Ala) c.2099A>C (p.Asp700Ala) c.2363A>C (p.Asp788Ala) c.2561A>C (p.Asp854Ala) c.2966A>C (p.Asp989Ala) | gnomAD v4 |
15 | g.22903830C>A | CA391334619 | CYFIP1 | c.2458G>T (p.Asp820Tyr) c.2464G>T (p.Asp822Tyr) c.1171G>T (p.Asp391Tyr) n.857G>T n.1611G>T c.2863G>T (p.Asp955Tyr) c.2566G>T (p.Asp856Tyr) c.784G>T (p.Asp262Tyr) c.2374G>T (p.Asp792Tyr) c.2098G>T (p.Asp700Tyr) c.2362G>T (p.Asp788Tyr) c.2560G>T (p.Asp854Tyr) c.2965G>T (p.Asp989Tyr) | gnomAD v4 |
15 | g.22903830C= | CA2163978066 | CYFIP1 | c.2458G= (p.Asp820=) c.2464G= (p.Asp822=) c.1171G= (p.Asp391=) n.857G= n.1611G= c.2863G= (p.Asp955=) c.2566G= (p.Asp856=) c.784G= (p.Asp262=) c.2374G= (p.Asp792=) c.2098G= (p.Asp700=) c.2362G= (p.Asp788=) c.2560G= (p.Asp854=) c.2965G= (p.Asp989=) | |
15 | g.22903830C>G | CA391334621 | CYFIP1 | c.2458G>C (p.Asp820His) c.2464G>C (p.Asp822His) c.1171G>C (p.Asp391His) n.857G>C n.1611G>C c.2863G>C (p.Asp955His) c.2566G>C (p.Asp856His) c.784G>C (p.Asp262His) c.2374G>C (p.Asp792His) c.2098G>C (p.Asp700His) c.2362G>C (p.Asp788His) c.2560G>C (p.Asp854His) c.2965G>C (p.Asp989His) | |
15 | g.22903830C>T | CA7425107 | CYFIP1 | c.2458G>A (p.Asp820Asn) c.2464G>A (p.Asp822Asn) c.1171G>A (p.Asp391Asn) n.857G>A n.1611G>A c.2863G>A (p.Asp955Asn) c.2566G>A (p.Asp856Asn) c.784G>A (p.Asp262Asn) c.2374G>A (p.Asp792Asn) c.2098G>A (p.Asp700Asn) c.2362G>A (p.Asp788Asn) c.2560G>A (p.Asp854Asn) c.2965G>A (p.Asp989Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903831G>A | CA7425106 | CYFIP1 | c.2457C>T (p.Phe819=) c.2463C>T (p.Phe821=) c.1170C>T (p.Phe390=) n.856C>T n.1610C>T c.2862C>T (p.Phe954=) c.2565C>T (p.Phe855=) c.783C>T (p.Phe261=) c.2373C>T (p.Phe791=) c.2097C>T (p.Phe699=) c.2361C>T (p.Phe787=) c.2559C>T (p.Phe853=) c.2964C>T (p.Phe988=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903831G>C | CA391334625 | CYFIP1 | c.2457C>G (p.Phe819Leu) c.2463C>G (p.Phe821Leu) c.1170C>G (p.Phe390Leu) n.856C>G n.1610C>G c.2862C>G (p.Phe954Leu) c.2565C>G (p.Phe855Leu) c.783C>G (p.Phe261Leu) c.2373C>G (p.Phe791Leu) c.2097C>G (p.Phe699Leu) c.2361C>G (p.Phe787Leu) c.2559C>G (p.Phe853Leu) c.2964C>G (p.Phe988Leu) | |
15 | g.22903831G= | CA2163978069 | CYFIP1 | c.2457C= (p.Phe819=) c.2463C= (p.Phe821=) c.1170C= (p.Phe390=) n.856C= n.1610C= c.2862C= (p.Phe954=) c.2565C= (p.Phe855=) c.783C= (p.Phe261=) c.2373C= (p.Phe791=) c.2097C= (p.Phe699=) c.2361C= (p.Phe787=) c.2559C= (p.Phe853=) c.2964C= (p.Phe988=) | |
15 | g.22903831G>T | CA391334627 | CYFIP1 | c.2457C>A (p.Phe819Leu) c.2463C>A (p.Phe821Leu) c.1170C>A (p.Phe390Leu) n.856C>A n.1610C>A c.2862C>A (p.Phe954Leu) c.2565C>A (p.Phe855Leu) c.783C>A (p.Phe261Leu) c.2373C>A (p.Phe791Leu) c.2097C>A (p.Phe699Leu) c.2361C>A (p.Phe787Leu) c.2559C>A (p.Phe853Leu) c.2964C>A (p.Phe988Leu) | |
15 | g.22903832A>C | CA391334629 | CYFIP1 | c.2456T>G (p.Phe819Cys) c.2462T>G (p.Phe821Cys) c.1169T>G (p.Phe390Cys) n.855T>G n.1609T>G c.2861T>G (p.Phe954Cys) c.2564T>G (p.Phe855Cys) c.782T>G (p.Phe261Cys) c.2372T>G (p.Phe791Cys) c.2096T>G (p.Phe699Cys) c.2360T>G (p.Phe787Cys) c.2558T>G (p.Phe853Cys) c.2963T>G (p.Phe988Cys) | |
15 | g.22903832A>G | CA391334630 | CYFIP1 | c.2456T>C (p.Phe819Ser) c.2462T>C (p.Phe821Ser) c.1169T>C (p.Phe390Ser) n.855T>C n.1609T>C c.2861T>C (p.Phe954Ser) c.2564T>C (p.Phe855Ser) c.782T>C (p.Phe261Ser) c.2372T>C (p.Phe791Ser) c.2096T>C (p.Phe699Ser) c.2360T>C (p.Phe787Ser) c.2558T>C (p.Phe853Ser) c.2963T>C (p.Phe988Ser) | |
15 | g.22903832A>T | CA391334632 | CYFIP1 | c.2456T>A (p.Phe819Tyr) c.2462T>A (p.Phe821Tyr) c.1169T>A (p.Phe390Tyr) n.855T>A n.1609T>A c.2861T>A (p.Phe954Tyr) c.2564T>A (p.Phe855Tyr) c.782T>A (p.Phe261Tyr) c.2372T>A (p.Phe791Tyr) c.2096T>A (p.Phe699Tyr) c.2360T>A (p.Phe787Tyr) c.2558T>A (p.Phe853Tyr) c.2963T>A (p.Phe988Tyr) | |
15 | g.22903833A>C | CA391334633 | CYFIP1 | c.2455T>G (p.Phe819Val) c.2461T>G (p.Phe821Val) c.1168T>G (p.Phe390Val) n.854T>G n.1608T>G c.2860T>G (p.Phe954Val) c.2563T>G (p.Phe855Val) c.781T>G (p.Phe261Val) c.2371T>G (p.Phe791Val) c.2095T>G (p.Phe699Val) c.2359T>G (p.Phe787Val) c.2557T>G (p.Phe853Val) c.2962T>G (p.Phe988Val) | dbSNP |
15 | g.22903833A>G | CA391334636 | CYFIP1 | c.2455T>C (p.Phe819Leu) c.2461T>C (p.Phe821Leu) c.1168T>C (p.Phe390Leu) n.854T>C n.1608T>C c.2860T>C (p.Phe954Leu) c.2563T>C (p.Phe855Leu) c.781T>C (p.Phe261Leu) c.2371T>C (p.Phe791Leu) c.2095T>C (p.Phe699Leu) c.2359T>C (p.Phe787Leu) c.2557T>C (p.Phe853Leu) c.2962T>C (p.Phe988Leu) | |
15 | g.22903833A>T | CA391334635 | CYFIP1 | c.2455T>A (p.Phe819Ile) c.2461T>A (p.Phe821Ile) c.1168T>A (p.Phe390Ile) n.854T>A n.1608T>A c.2860T>A (p.Phe954Ile) c.2563T>A (p.Phe855Ile) c.781T>A (p.Phe261Ile) c.2371T>A (p.Phe791Ile) c.2095T>A (p.Phe699Ile) c.2359T>A (p.Phe787Ile) c.2557T>A (p.Phe853Ile) c.2962T>A (p.Phe988Ile) | dbSNP |
15 | g.22903834G>A | CA488526483 | CYFIP1 | c.2454C>T (p.Gly818=) c.2460C>T (p.Gly820=) c.1167C>T (p.Gly389=) n.853C>T n.1607C>T c.2859C>T (p.Gly953=) c.2562C>T (p.Gly854=) c.780C>T (p.Gly260=) c.2370C>T (p.Gly790=) c.2094C>T (p.Gly698=) c.2358C>T (p.Gly786=) c.2556C>T (p.Gly852=) c.2961C>T (p.Gly987=) | |
15 | g.22903834G>C | CA488526481 | CYFIP1 | c.2454C>G (p.Gly818=) c.2460C>G (p.Gly820=) c.1167C>G (p.Gly389=) n.853C>G n.1607C>G c.2859C>G (p.Gly953=) c.2562C>G (p.Gly854=) c.780C>G (p.Gly260=) c.2370C>G (p.Gly790=) c.2094C>G (p.Gly698=) c.2358C>G (p.Gly786=) c.2556C>G (p.Gly852=) c.2961C>G (p.Gly987=) | |
15 | g.22903834G>T | CA488526482 | CYFIP1 | c.2454C>A (p.Gly818=) c.2460C>A (p.Gly820=) c.1167C>A (p.Gly389=) n.853C>A n.1607C>A c.2859C>A (p.Gly953=) c.2562C>A (p.Gly854=) c.780C>A (p.Gly260=) c.2370C>A (p.Gly790=) c.2094C>A (p.Gly698=) c.2358C>A (p.Gly786=) c.2556C>A (p.Gly852=) c.2961C>A (p.Gly987=) | |
15 | g.22903835C>A | CA391334638 | CYFIP1 | c.2453G>T (p.Gly818Val) c.2459G>T (p.Gly820Val) c.1166G>T (p.Gly389Val) n.852G>T n.1606G>T c.2858G>T (p.Gly953Val) c.2561G>T (p.Gly854Val) c.779G>T (p.Gly260Val) c.2369G>T (p.Gly790Val) c.2093G>T (p.Gly698Val) c.2357G>T (p.Gly786Val) c.2555G>T (p.Gly852Val) c.2960G>T (p.Gly987Val) | |
15 | g.22903835C= | CA2163978072 | CYFIP1 | c.2453G= (p.Gly818=) c.2459G= (p.Gly820=) c.1166G= (p.Gly389=) n.852G= n.1606G= c.2858G= (p.Gly953=) c.2561G= (p.Gly854=) c.779G= (p.Gly260=) c.2369G= (p.Gly790=) c.2093G= (p.Gly698=) c.2357G= (p.Gly786=) c.2555G= (p.Gly852=) c.2960G= (p.Gly987=) | |
15 | g.22903835C>G | CA391334640 | CYFIP1 | c.2453G>C (p.Gly818Ala) c.2459G>C (p.Gly820Ala) c.1166G>C (p.Gly389Ala) n.852G>C n.1606G>C c.2858G>C (p.Gly953Ala) c.2561G>C (p.Gly854Ala) c.779G>C (p.Gly260Ala) c.2369G>C (p.Gly790Ala) c.2093G>C (p.Gly698Ala) c.2357G>C (p.Gly786Ala) c.2555G>C (p.Gly852Ala) c.2960G>C (p.Gly987Ala) | |
15 | g.22903835C>T | CA7425105 | CYFIP1 | c.2453G>A (p.Gly818Asp) c.2459G>A (p.Gly820Asp) c.1166G>A (p.Gly389Asp) n.852G>A n.1606G>A c.2858G>A (p.Gly953Asp) c.2561G>A (p.Gly854Asp) c.779G>A (p.Gly260Asp) c.2369G>A (p.Gly790Asp) c.2093G>A (p.Gly698Asp) c.2357G>A (p.Gly786Asp) c.2555G>A (p.Gly852Asp) c.2960G>A (p.Gly987Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903836C>A | CA391334642 | CYFIP1 | c.2452G>T (p.Gly818Cys) c.2458G>T (p.Gly820Cys) c.1165G>T (p.Gly389Cys) n.851G>T n.1605G>T c.2857G>T (p.Gly953Cys) c.2560G>T (p.Gly854Cys) c.778G>T (p.Gly260Cys) c.2368G>T (p.Gly790Cys) c.2092G>T (p.Gly698Cys) c.2356G>T (p.Gly786Cys) c.2554G>T (p.Gly852Cys) c.2959G>T (p.Gly987Cys) | |
15 | g.22903836C= | CA2163978076 | CYFIP1 | c.2452G= (p.Gly818=) c.2458G= (p.Gly820=) c.1165G= (p.Gly389=) n.851G= n.1605G= c.2857G= (p.Gly953=) c.2560G= (p.Gly854=) c.778G= (p.Gly260=) c.2368G= (p.Gly790=) c.2092G= (p.Gly698=) c.2356G= (p.Gly786=) c.2554G= (p.Gly852=) c.2959G= (p.Gly987=) | |
15 | g.22903836C>G | CA391334644 | CYFIP1 | c.2452G>C (p.Gly818Arg) c.2458G>C (p.Gly820Arg) c.1165G>C (p.Gly389Arg) n.851G>C n.1605G>C c.2857G>C (p.Gly953Arg) c.2560G>C (p.Gly854Arg) c.778G>C (p.Gly260Arg) c.2368G>C (p.Gly790Arg) c.2092G>C (p.Gly698Arg) c.2356G>C (p.Gly786Arg) c.2554G>C (p.Gly852Arg) c.2959G>C (p.Gly987Arg) | |
15 | g.22903836C>T | CA7425104 | CYFIP1 | c.2452G>A (p.Gly818Ser) c.2458G>A (p.Gly820Ser) c.1165G>A (p.Gly389Ser) n.851G>A n.1605G>A c.2857G>A (p.Gly953Ser) c.2560G>A (p.Gly854Ser) c.778G>A (p.Gly260Ser) c.2368G>A (p.Gly790Ser) c.2092G>A (p.Gly698Ser) c.2356G>A (p.Gly786Ser) c.2554G>A (p.Gly852Ser) c.2959G>A (p.Gly987Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903837G>A | CA488526484 | CYFIP1 | c.2451C>T (p.Asp817=) c.2457C>T (p.Asp819=) c.1164C>T (p.Asp388=) n.850C>T n.1604C>T c.2856C>T (p.Asp952=) c.2559C>T (p.Asp853=) c.777C>T (p.Asp259=) c.2367C>T (p.Asp789=) c.2091C>T (p.Asp697=) c.2355C>T (p.Asp785=) c.2553C>T (p.Asp851=) c.2958C>T (p.Asp986=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903837G>C | CA391334647 | CYFIP1 | c.2451C>G (p.Asp817Glu) c.2457C>G (p.Asp819Glu) c.1164C>G (p.Asp388Glu) n.850C>G n.1604C>G c.2856C>G (p.Asp952Glu) c.2559C>G (p.Asp853Glu) c.777C>G (p.Asp259Glu) c.2367C>G (p.Asp789Glu) c.2091C>G (p.Asp697Glu) c.2355C>G (p.Asp785Glu) c.2553C>G (p.Asp851Glu) c.2958C>G (p.Asp986Glu) | |
15 | g.22903837G= | CA2163978078 | CYFIP1 | c.2451C= (p.Asp817=) c.2457C= (p.Asp819=) c.1164C= (p.Asp388=) n.850C= n.1604C= c.2856C= (p.Asp952=) c.2559C= (p.Asp853=) c.777C= (p.Asp259=) c.2367C= (p.Asp789=) c.2091C= (p.Asp697=) c.2355C= (p.Asp785=) c.2553C= (p.Asp851=) c.2958C= (p.Asp986=) | |
15 | g.22903837G>T | CA391334648 | CYFIP1 | c.2451C>A (p.Asp817Glu) c.2457C>A (p.Asp819Glu) c.1164C>A (p.Asp388Glu) n.850C>A n.1604C>A c.2856C>A (p.Asp952Glu) c.2559C>A (p.Asp853Glu) c.777C>A (p.Asp259Glu) c.2367C>A (p.Asp789Glu) c.2091C>A (p.Asp697Glu) c.2355C>A (p.Asp785Glu) c.2553C>A (p.Asp851Glu) c.2958C>A (p.Asp986Glu) | |
15 | g.22903838T>A | CA391334651 | CYFIP1 | c.2450A>T (p.Asp817Val) c.2456A>T (p.Asp819Val) c.1163A>T (p.Asp388Val) n.849A>T n.1603A>T c.2855A>T (p.Asp952Val) c.2558A>T (p.Asp853Val) c.776A>T (p.Asp259Val) c.2366A>T (p.Asp789Val) c.2090A>T (p.Asp697Val) c.2354A>T (p.Asp785Val) c.2552A>T (p.Asp851Val) c.2957A>T (p.Asp986Val) | dbSNP |
15 | g.22903838T>C | CA391334653 | CYFIP1 | c.2450A>G (p.Asp817Gly) c.2456A>G (p.Asp819Gly) c.1163A>G (p.Asp388Gly) n.849A>G n.1603A>G c.2855A>G (p.Asp952Gly) c.2558A>G (p.Asp853Gly) c.776A>G (p.Asp259Gly) c.2366A>G (p.Asp789Gly) c.2090A>G (p.Asp697Gly) c.2354A>G (p.Asp785Gly) c.2552A>G (p.Asp851Gly) c.2957A>G (p.Asp986Gly) | |
15 | g.22903838T>G | CA391334655 | CYFIP1 | c.2450A>C (p.Asp817Ala) c.2456A>C (p.Asp819Ala) c.1163A>C (p.Asp388Ala) n.849A>C n.1603A>C c.2855A>C (p.Asp952Ala) c.2558A>C (p.Asp853Ala) c.776A>C (p.Asp259Ala) c.2366A>C (p.Asp789Ala) c.2090A>C (p.Asp697Ala) c.2354A>C (p.Asp785Ala) c.2552A>C (p.Asp851Ala) c.2957A>C (p.Asp986Ala) | dbSNP |
15 | g.22903839C>A | CA391334657 | CYFIP1 | c.2449G>T (p.Asp817Tyr) c.2455G>T (p.Asp819Tyr) c.1162G>T (p.Asp388Tyr) n.848G>T n.1602G>T c.2854G>T (p.Asp952Tyr) c.2557G>T (p.Asp853Tyr) c.775G>T (p.Asp259Tyr) c.2365G>T (p.Asp789Tyr) c.2089G>T (p.Asp697Tyr) c.2353G>T (p.Asp785Tyr) c.2551G>T (p.Asp851Tyr) c.2956G>T (p.Asp986Tyr) | |
15 | g.22903839C>G | CA391334658 | CYFIP1 | c.2449G>C (p.Asp817His) c.2455G>C (p.Asp819His) c.1162G>C (p.Asp388His) n.848G>C n.1602G>C c.2854G>C (p.Asp952His) c.2557G>C (p.Asp853His) c.775G>C (p.Asp259His) c.2365G>C (p.Asp789His) c.2089G>C (p.Asp697His) c.2353G>C (p.Asp785His) c.2551G>C (p.Asp851His) c.2956G>C (p.Asp986His) | gnomAD v4 |
15 | g.22903839C>T | CA391334660 | CYFIP1 | c.2449G>A (p.Asp817Asn) c.2455G>A (p.Asp819Asn) c.1162G>A (p.Asp388Asn) n.848G>A n.1602G>A c.2854G>A (p.Asp952Asn) c.2557G>A (p.Asp853Asn) c.775G>A (p.Asp259Asn) c.2365G>A (p.Asp789Asn) c.2089G>A (p.Asp697Asn) c.2353G>A (p.Asp785Asn) c.2551G>A (p.Asp851Asn) c.2956G>A (p.Asp986Asn) | dbSNP |
15 | g.22903840C>A | CA488526485 | CYFIP1 | c.2448G>T (p.Leu816=) c.2454G>T (p.Leu818=) c.1161G>T (p.Leu387=) n.847G>T n.1601G>T c.2853G>T (p.Leu951=) c.2556G>T (p.Leu852=) c.774G>T (p.Leu258=) c.2364G>T (p.Leu788=) c.2088G>T (p.Leu696=) c.2352G>T (p.Leu784=) c.2550G>T (p.Leu850=) c.2955G>T (p.Leu985=) | |
15 | g.22903840C= | CA2163978081 | CYFIP1 | c.2448G= (p.Leu816=) c.2454G= (p.Leu818=) c.1161G= (p.Leu387=) n.847G= n.1601G= c.2853G= (p.Leu951=) c.2556G= (p.Leu852=) c.774G= (p.Leu258=) c.2364G= (p.Leu788=) c.2088G= (p.Leu696=) c.2352G= (p.Leu784=) c.2550G= (p.Leu850=) c.2955G= (p.Leu985=) | |
15 | g.22903840C>G | CA488526486 | CYFIP1 | c.2448G>C (p.Leu816=) c.2454G>C (p.Leu818=) c.1161G>C (p.Leu387=) n.847G>C n.1601G>C c.2853G>C (p.Leu951=) c.2556G>C (p.Leu852=) c.774G>C (p.Leu258=) c.2364G>C (p.Leu788=) c.2088G>C (p.Leu696=) c.2352G>C (p.Leu784=) c.2550G>C (p.Leu850=) c.2955G>C (p.Leu985=) | |
15 | g.22903840C>T | CA488526487 | CYFIP1 | c.2448G>A (p.Leu816=) c.2454G>A (p.Leu818=) c.1161G>A (p.Leu387=) n.847G>A n.1601G>A c.2853G>A (p.Leu951=) c.2556G>A (p.Leu852=) c.774G>A (p.Leu258=) c.2364G>A (p.Leu788=) c.2088G>A (p.Leu696=) c.2352G>A (p.Leu784=) c.2550G>A (p.Leu850=) c.2955G>A (p.Leu985=) | dbSNP gnomAD v4 |
15 | g.22903844_22903861del | CA2627257802 | CYFIP1 | c.2431_2448del (p.Ser811_Leu816del) c.2437_2454del (p.Ser813_Leu818del) c.1144_1161del (p.Ser382_Leu387del) n.830_847del n.1584_1601del c.2836_2853del (p.Ser946_Leu951del) c.2539_2556del (p.Ser847_Leu852del) c.757_774del (p.Ser253_Leu258del) c.2347_2364del (p.Ser783_Leu788del) c.2071_2088del (p.Ser691_Leu696del) c.2335_2352del (p.Ser779_Leu784del) c.2533_2550del (p.Ser845_Leu850del) c.2938_2955del (p.Ser980_Leu985del) | gnomAD v4 |
15 | g.22903841A= | CA2163978083 | CYFIP1 | c.2447T= (p.Leu816=) c.2453T= (p.Leu818=) c.1160T= (p.Leu387=) n.846T= n.1600T= c.2852T= (p.Leu951=) c.2555T= (p.Leu852=) c.773T= (p.Leu258=) c.2363T= (p.Leu788=) c.2087T= (p.Leu696=) c.2351T= (p.Leu784=) c.2549T= (p.Leu850=) c.2954T= (p.Leu985=) | |
15 | g.22903841A>C | CA391334665 | CYFIP1 | c.2447T>G (p.Leu816Arg) c.2453T>G (p.Leu818Arg) c.1160T>G (p.Leu387Arg) n.846T>G n.1600T>G c.2852T>G (p.Leu951Arg) c.2555T>G (p.Leu852Arg) c.773T>G (p.Leu258Arg) c.2363T>G (p.Leu788Arg) c.2087T>G (p.Leu696Arg) c.2351T>G (p.Leu784Arg) c.2549T>G (p.Leu850Arg) c.2954T>G (p.Leu985Arg) | |
15 | g.22903841A>G | CA7425103 | CYFIP1 | c.2447T>C (p.Leu816Pro) c.2453T>C (p.Leu818Pro) c.1160T>C (p.Leu387Pro) n.846T>C n.1600T>C c.2852T>C (p.Leu951Pro) c.2555T>C (p.Leu852Pro) c.773T>C (p.Leu258Pro) c.2363T>C (p.Leu788Pro) c.2087T>C (p.Leu696Pro) c.2351T>C (p.Leu784Pro) c.2549T>C (p.Leu850Pro) c.2954T>C (p.Leu985Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.22903841A>T | CA391334663 | CYFIP1 | c.2447T>A (p.Leu816Gln) c.2453T>A (p.Leu818Gln) c.1160T>A (p.Leu387Gln) n.846T>A n.1600T>A c.2852T>A (p.Leu951Gln) c.2555T>A (p.Leu852Gln) c.773T>A (p.Leu258Gln) c.2363T>A (p.Leu788Gln) c.2087T>A (p.Leu696Gln) c.2351T>A (p.Leu784Gln) c.2549T>A (p.Leu850Gln) c.2954T>A (p.Leu985Gln) | dbSNP |
15 | g.22903842G>A | CA488526488 | CYFIP1 | c.2446C>T (p.Leu816=) c.2452C>T (p.Leu818=) c.1159C>T (p.Leu387=) n.845C>T n.1599C>T c.2851C>T (p.Leu951=) c.2554C>T (p.Leu852=) c.772C>T (p.Leu258=) c.2362C>T (p.Leu788=) c.2086C>T (p.Leu696=) c.2350C>T (p.Leu784=) c.2548C>T (p.Leu850=) c.2953C>T (p.Leu985=) | |
15 | g.22903842G>C | CA391334668 | CYFIP1 | c.2446C>G (p.Leu816Val) c.2452C>G (p.Leu818Val) c.1159C>G (p.Leu387Val) n.845C>G n.1599C>G c.2851C>G (p.Leu951Val) c.2554C>G (p.Leu852Val) c.772C>G (p.Leu258Val) c.2362C>G (p.Leu788Val) c.2086C>G (p.Leu696Val) c.2350C>G (p.Leu784Val) c.2548C>G (p.Leu850Val) c.2953C>G (p.Leu985Val) | |
15 | g.22903842G= | CA2163978085 | CYFIP1 | c.2446C= (p.Leu816=) c.2452C= (p.Leu818=) c.1159C= (p.Leu387=) n.845C= n.1599C= c.2851C= (p.Leu951=) c.2554C= (p.Leu852=) c.772C= (p.Leu258=) c.2362C= (p.Leu788=) c.2086C= (p.Leu696=) c.2350C= (p.Leu784=) c.2548C= (p.Leu850=) c.2953C= (p.Leu985=) | |
15 | g.22903842G>T | CA391334669 | CYFIP1 | c.2446C>A (p.Leu816Met) c.2452C>A (p.Leu818Met) c.1159C>A (p.Leu387Met) n.845C>A n.1599C>A c.2851C>A (p.Leu951Met) c.2554C>A (p.Leu852Met) c.772C>A (p.Leu258Met) c.2362C>A (p.Leu788Met) c.2086C>A (p.Leu696Met) c.2350C>A (p.Leu784Met) c.2548C>A (p.Leu850Met) c.2953C>A (p.Leu985Met) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903843C>A | CA488526489 | CYFIP1 | c.2445G>T (p.Thr815=) c.2451G>T (p.Thr817=) c.1158G>T (p.Thr386=) n.844G>T n.1598G>T c.2850G>T (p.Thr950=) c.2553G>T (p.Thr851=) c.771G>T (p.Thr257=) c.2361G>T (p.Thr787=) c.2085G>T (p.Thr695=) c.2349G>T (p.Thr783=) c.2547G>T (p.Thr849=) c.2952G>T (p.Thr984=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903843C= | CA2163978088 | CYFIP1 | c.2445G= (p.Thr815=) c.2451G= (p.Thr817=) c.1158G= (p.Thr386=) n.844G= n.1598G= c.2850G= (p.Thr950=) c.2553G= (p.Thr851=) c.771G= (p.Thr257=) c.2361G= (p.Thr787=) c.2085G= (p.Thr695=) c.2349G= (p.Thr783=) c.2547G= (p.Thr849=) c.2952G= (p.Thr984=) | |
15 | g.22903843C>G | CA488526490 | CYFIP1 | c.2445G>C (p.Thr815=) c.2451G>C (p.Thr817=) c.1158G>C (p.Thr386=) n.844G>C n.1598G>C c.2850G>C (p.Thr950=) c.2553G>C (p.Thr851=) c.771G>C (p.Thr257=) c.2361G>C (p.Thr787=) c.2085G>C (p.Thr695=) c.2349G>C (p.Thr783=) c.2547G>C (p.Thr849=) c.2952G>C (p.Thr984=) | |
15 | g.22903843C>T | CA7425102 | CYFIP1 | c.2445G>A (p.Thr815=) c.2451G>A (p.Thr817=) c.1158G>A (p.Thr386=) n.844G>A n.1598G>A c.2850G>A (p.Thr950=) c.2553G>A (p.Thr851=) c.771G>A (p.Thr257=) c.2361G>A (p.Thr787=) c.2085G>A (p.Thr695=) c.2349G>A (p.Thr783=) c.2547G>A (p.Thr849=) c.2952G>A (p.Thr984=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903844G>A | CA7425101 | CYFIP1 | c.2444C>T (p.Thr815Met) c.2450C>T (p.Thr817Met) c.1157C>T (p.Thr386Met) n.843C>T n.1597C>T c.2849C>T (p.Thr950Met) c.2552C>T (p.Thr851Met) c.770C>T (p.Thr257Met) c.2360C>T (p.Thr787Met) c.2084C>T (p.Thr695Met) c.2348C>T (p.Thr783Met) c.2546C>T (p.Thr849Met) c.2951C>T (p.Thr984Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903844G>C | CA391334673 | CYFIP1 | c.2444C>G (p.Thr815Arg) c.2450C>G (p.Thr817Arg) c.1157C>G (p.Thr386Arg) n.843C>G n.1597C>G c.2849C>G (p.Thr950Arg) c.2552C>G (p.Thr851Arg) c.770C>G (p.Thr257Arg) c.2360C>G (p.Thr787Arg) c.2084C>G (p.Thr695Arg) c.2348C>G (p.Thr783Arg) c.2546C>G (p.Thr849Arg) c.2951C>G (p.Thr984Arg) | |
15 | g.22903844G= | CA2163978094 | CYFIP1 | c.2444C= (p.Thr815=) c.2450C= (p.Thr817=) c.1157C= (p.Thr386=) n.843C= n.1597C= c.2849C= (p.Thr950=) c.2552C= (p.Thr851=) c.770C= (p.Thr257=) c.2360C= (p.Thr787=) c.2084C= (p.Thr695=) c.2348C= (p.Thr783=) c.2546C= (p.Thr849=) c.2951C= (p.Thr984=) | |
15 | g.22903844G>T | CA391334675 | CYFIP1 | c.2444C>A (p.Thr815Lys) c.2450C>A (p.Thr817Lys) c.1157C>A (p.Thr386Lys) n.843C>A n.1597C>A c.2849C>A (p.Thr950Lys) c.2552C>A (p.Thr851Lys) c.770C>A (p.Thr257Lys) c.2360C>A (p.Thr787Lys) c.2084C>A (p.Thr695Lys) c.2348C>A (p.Thr783Lys) c.2546C>A (p.Thr849Lys) c.2951C>A (p.Thr984Lys) | |
15 | g.22903845T>A | CA391334677 | CYFIP1 | c.2443A>T (p.Thr815Ser) c.2449A>T (p.Thr817Ser) c.1156A>T (p.Thr386Ser) n.842A>T n.1596A>T c.2848A>T (p.Thr950Ser) c.2551A>T (p.Thr851Ser) c.769A>T (p.Thr257Ser) c.2359A>T (p.Thr787Ser) c.2083A>T (p.Thr695Ser) c.2347A>T (p.Thr783Ser) c.2545A>T (p.Thr849Ser) c.2950A>T (p.Thr984Ser) | dbSNP |
15 | g.22903845T>C | CA391334679 | CYFIP1 | c.2443A>G (p.Thr815Ala) c.2449A>G (p.Thr817Ala) c.1156A>G (p.Thr386Ala) n.842A>G n.1596A>G c.2848A>G (p.Thr950Ala) c.2551A>G (p.Thr851Ala) c.769A>G (p.Thr257Ala) c.2359A>G (p.Thr787Ala) c.2083A>G (p.Thr695Ala) c.2347A>G (p.Thr783Ala) c.2545A>G (p.Thr849Ala) c.2950A>G (p.Thr984Ala) | |
15 | g.22903845T>G | CA391334680 | CYFIP1 | c.2443A>C (p.Thr815Pro) c.2449A>C (p.Thr817Pro) c.1156A>C (p.Thr386Pro) n.842A>C n.1596A>C c.2848A>C (p.Thr950Pro) c.2551A>C (p.Thr851Pro) c.769A>C (p.Thr257Pro) c.2359A>C (p.Thr787Pro) c.2083A>C (p.Thr695Pro) c.2347A>C (p.Thr783Pro) c.2545A>C (p.Thr849Pro) c.2950A>C (p.Thr984Pro) | dbSNP |
15 | g.22903846C>A | CA488526491 | CYFIP1 | c.2442G>T (p.Leu814=) c.2448G>T (p.Leu816=) c.1155G>T (p.Leu385=) n.841G>T n.1595G>T c.2847G>T (p.Leu949=) c.2550G>T (p.Leu850=) c.768G>T (p.Leu256=) c.2358G>T (p.Leu786=) c.2082G>T (p.Leu694=) c.2346G>T (p.Leu782=) c.2544G>T (p.Leu848=) c.2949G>T (p.Leu983=) | |
15 | g.22903846C= | CA2163978097 | CYFIP1 | c.2442G= (p.Leu814=) c.2448G= (p.Leu816=) c.1155G= (p.Leu385=) n.841G= n.1595G= c.2847G= (p.Leu949=) c.2550G= (p.Leu850=) c.768G= (p.Leu256=) c.2358G= (p.Leu786=) c.2082G= (p.Leu694=) c.2346G= (p.Leu782=) c.2544G= (p.Leu848=) c.2949G= (p.Leu983=) | |
15 | g.22903846C>G | CA267616566 | CYFIP1 | c.2442G>C (p.Leu814=) c.2448G>C (p.Leu816=) c.1155G>C (p.Leu385=) n.841G>C n.1595G>C c.2847G>C (p.Leu949=) c.2550G>C (p.Leu850=) c.768G>C (p.Leu256=) c.2358G>C (p.Leu786=) c.2082G>C (p.Leu694=) c.2346G>C (p.Leu782=) c.2544G>C (p.Leu848=) c.2949G>C (p.Leu983=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903846C>T | CA267616573 | CYFIP1 | c.2442G>A (p.Leu814=) c.2448G>A (p.Leu816=) c.1155G>A (p.Leu385=) n.841G>A n.1595G>A c.2847G>A (p.Leu949=) c.2550G>A (p.Leu850=) c.768G>A (p.Leu256=) c.2358G>A (p.Leu786=) c.2082G>A (p.Leu694=) c.2346G>A (p.Leu782=) c.2544G>A (p.Leu848=) c.2949G>A (p.Leu983=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903847A>C | CA391334685 | CYFIP1 | c.2441T>G (p.Leu814Arg) c.2447T>G (p.Leu816Arg) c.1154T>G (p.Leu385Arg) n.840T>G n.1594T>G c.2846T>G (p.Leu949Arg) c.2549T>G (p.Leu850Arg) c.767T>G (p.Leu256Arg) c.2357T>G (p.Leu786Arg) c.2081T>G (p.Leu694Arg) c.2345T>G (p.Leu782Arg) c.2543T>G (p.Leu848Arg) c.2948T>G (p.Leu983Arg) | |
15 | g.22903847A>G | CA391334687 | CYFIP1 | c.2441T>C (p.Leu814Pro) c.2447T>C (p.Leu816Pro) c.1154T>C (p.Leu385Pro) n.840T>C n.1594T>C c.2846T>C (p.Leu949Pro) c.2549T>C (p.Leu850Pro) c.767T>C (p.Leu256Pro) c.2357T>C (p.Leu786Pro) c.2081T>C (p.Leu694Pro) c.2345T>C (p.Leu782Pro) c.2543T>C (p.Leu848Pro) c.2948T>C (p.Leu983Pro) | |
15 | g.22903847A>T | CA391334684 | CYFIP1 | c.2441T>A (p.Leu814Gln) c.2447T>A (p.Leu816Gln) c.1154T>A (p.Leu385Gln) n.840T>A n.1594T>A c.2846T>A (p.Leu949Gln) c.2549T>A (p.Leu850Gln) c.767T>A (p.Leu256Gln) c.2357T>A (p.Leu786Gln) c.2081T>A (p.Leu694Gln) c.2345T>A (p.Leu782Gln) c.2543T>A (p.Leu848Gln) c.2948T>A (p.Leu983Gln) | |
15 | g.22903848G>A | CA267616581 | CYFIP1 | c.2440C>T (p.Leu814=) c.2446C>T (p.Leu816=) c.1153C>T (p.Leu385=) n.839C>T n.1593C>T c.2845C>T (p.Leu949=) c.2548C>T (p.Leu850=) c.766C>T (p.Leu256=) c.2356C>T (p.Leu786=) c.2080C>T (p.Leu694=) c.2344C>T (p.Leu782=) c.2542C>T (p.Leu848=) c.2947C>T (p.Leu983=) | dbSNP |
15 | g.22903848G>C | CA391334690 | CYFIP1 | c.2440C>G (p.Leu814Val) c.2446C>G (p.Leu816Val) c.1153C>G (p.Leu385Val) n.839C>G n.1593C>G c.2845C>G (p.Leu949Val) c.2548C>G (p.Leu850Val) c.766C>G (p.Leu256Val) c.2356C>G (p.Leu786Val) c.2080C>G (p.Leu694Val) c.2344C>G (p.Leu782Val) c.2542C>G (p.Leu848Val) c.2947C>G (p.Leu983Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903848G= | CA2163978099 | CYFIP1 | c.2440C= (p.Leu814=) c.2446C= (p.Leu816=) c.1153C= (p.Leu385=) n.839C= n.1593C= c.2845C= (p.Leu949=) c.2548C= (p.Leu850=) c.766C= (p.Leu256=) c.2356C= (p.Leu786=) c.2080C= (p.Leu694=) c.2344C= (p.Leu782=) c.2542C= (p.Leu848=) c.2947C= (p.Leu983=) | |
15 | g.22903848G>T | CA391334691 | CYFIP1 | c.2440C>A (p.Leu814Met) c.2446C>A (p.Leu816Met) c.1153C>A (p.Leu385Met) n.839C>A n.1593C>A c.2845C>A (p.Leu949Met) c.2548C>A (p.Leu850Met) c.766C>A (p.Leu256Met) c.2356C>A (p.Leu786Met) c.2080C>A (p.Leu694Met) c.2344C>A (p.Leu782Met) c.2542C>A (p.Leu848Met) c.2947C>A (p.Leu983Met) | |
15 | g.22903849G>A | CA267616583 | CYFIP1 | c.2439C>T (p.Tyr813=) c.2445C>T (p.Tyr815=) c.1152C>T (p.Tyr384=) n.838C>T n.1592C>T c.2844C>T (p.Tyr948=) c.2547C>T (p.Tyr849=) c.765C>T (p.Tyr255=) c.2355C>T (p.Tyr785=) c.2079C>T (p.Tyr693=) c.2343C>T (p.Tyr781=) c.2541C>T (p.Tyr847=) c.2946C>T (p.Tyr982=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903849G>C | CA391334692 | CYFIP1 | c.2439C>G (p.Tyr813Ter) c.2445C>G (p.Tyr815Ter) c.1152C>G (p.Tyr384Ter) n.838C>G n.1592C>G c.2844C>G (p.Tyr948Ter) c.2547C>G (p.Tyr849Ter) c.765C>G (p.Tyr255Ter) c.2355C>G (p.Tyr785Ter) c.2079C>G (p.Tyr693Ter) c.2343C>G (p.Tyr781Ter) c.2541C>G (p.Tyr847Ter) c.2946C>G (p.Tyr982Ter) | |
15 | g.22903849G= | CA2163978102 | CYFIP1 | c.2439C= (p.Tyr813=) c.2445C= (p.Tyr815=) c.1152C= (p.Tyr384=) n.838C= n.1592C= c.2844C= (p.Tyr948=) c.2547C= (p.Tyr849=) c.765C= (p.Tyr255=) c.2355C= (p.Tyr785=) c.2079C= (p.Tyr693=) c.2343C= (p.Tyr781=) c.2541C= (p.Tyr847=) c.2946C= (p.Tyr982=) | |
15 | g.22903849G>T | CA391334694 | CYFIP1 | c.2439C>A (p.Tyr813Ter) c.2445C>A (p.Tyr815Ter) c.1152C>A (p.Tyr384Ter) n.838C>A n.1592C>A c.2844C>A (p.Tyr948Ter) c.2547C>A (p.Tyr849Ter) c.765C>A (p.Tyr255Ter) c.2355C>A (p.Tyr785Ter) c.2079C>A (p.Tyr693Ter) c.2343C>A (p.Tyr781Ter) c.2541C>A (p.Tyr847Ter) c.2946C>A (p.Tyr982Ter) | |
15 | g.22903850T>A | CA391334697 | CYFIP1 | c.2438A>T (p.Tyr813Phe) c.2444A>T (p.Tyr815Phe) c.1151A>T (p.Tyr384Phe) n.837A>T n.1591A>T c.2843A>T (p.Tyr948Phe) c.2546A>T (p.Tyr849Phe) c.764A>T (p.Tyr255Phe) c.2354A>T (p.Tyr785Phe) c.2078A>T (p.Tyr693Phe) c.2342A>T (p.Tyr781Phe) c.2540A>T (p.Tyr847Phe) c.2945A>T (p.Tyr982Phe) | |
15 | g.22903850T>C | CA391334698 | CYFIP1 | c.2438A>G (p.Tyr813Cys) c.2444A>G (p.Tyr815Cys) c.1151A>G (p.Tyr384Cys) n.837A>G n.1591A>G c.2843A>G (p.Tyr948Cys) c.2546A>G (p.Tyr849Cys) c.764A>G (p.Tyr255Cys) c.2354A>G (p.Tyr785Cys) c.2078A>G (p.Tyr693Cys) c.2342A>G (p.Tyr781Cys) c.2540A>G (p.Tyr847Cys) c.2945A>G (p.Tyr982Cys) | |
15 | g.22903850T>G | CA391334700 | CYFIP1 | c.2438A>C (p.Tyr813Ser) c.2444A>C (p.Tyr815Ser) c.1151A>C (p.Tyr384Ser) n.837A>C n.1591A>C c.2843A>C (p.Tyr948Ser) c.2546A>C (p.Tyr849Ser) c.764A>C (p.Tyr255Ser) c.2354A>C (p.Tyr785Ser) c.2078A>C (p.Tyr693Ser) c.2342A>C (p.Tyr781Ser) c.2540A>C (p.Tyr847Ser) c.2945A>C (p.Tyr982Ser) | |
15 | g.22903851A= | CA2163978104 | CYFIP1 | c.2437T= (p.Tyr813=) c.2443T= (p.Tyr815=) c.1150T= (p.Tyr384=) n.836T= n.1590T= c.2842T= (p.Tyr948=) c.2545T= (p.Tyr849=) c.763T= (p.Tyr255=) c.2353T= (p.Tyr785=) c.2077T= (p.Tyr693=) c.2341T= (p.Tyr781=) c.2539T= (p.Tyr847=) c.2944T= (p.Tyr982=) | |
15 | g.22903851A>C | CA7425100 | CYFIP1 | c.2437T>G (p.Tyr813Asp) c.2443T>G (p.Tyr815Asp) c.1150T>G (p.Tyr384Asp) n.836T>G n.1590T>G c.2842T>G (p.Tyr948Asp) c.2545T>G (p.Tyr849Asp) c.763T>G (p.Tyr255Asp) c.2353T>G (p.Tyr785Asp) c.2077T>G (p.Tyr693Asp) c.2341T>G (p.Tyr781Asp) c.2539T>G (p.Tyr847Asp) c.2944T>G (p.Tyr982Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903851A>G | CA391334703 | CYFIP1 | c.2437T>C (p.Tyr813His) c.2443T>C (p.Tyr815His) c.1150T>C (p.Tyr384His) n.836T>C n.1590T>C c.2842T>C (p.Tyr948His) c.2545T>C (p.Tyr849His) c.763T>C (p.Tyr255His) c.2353T>C (p.Tyr785His) c.2077T>C (p.Tyr693His) c.2341T>C (p.Tyr781His) c.2539T>C (p.Tyr847His) c.2944T>C (p.Tyr982His) | gnomAD v4 |
15 | g.22903851A>T | CA391334705 | CYFIP1 | c.2437T>A (p.Tyr813Asn) c.2443T>A (p.Tyr815Asn) c.1150T>A (p.Tyr384Asn) n.836T>A n.1590T>A c.2842T>A (p.Tyr948Asn) c.2545T>A (p.Tyr849Asn) c.763T>A (p.Tyr255Asn) c.2353T>A (p.Tyr785Asn) c.2077T>A (p.Tyr693Asn) c.2341T>A (p.Tyr781Asn) c.2539T>A (p.Tyr847Asn) c.2944T>A (p.Tyr982Asn) | |
15 | g.22903852C>A | CA488526493 | CYFIP1 | c.2436G>T (p.Arg812=) c.2442G>T (p.Arg814=) c.1149G>T (p.Arg383=) n.835G>T n.1589G>T c.2841G>T (p.Arg947=) c.2544G>T (p.Arg848=) c.762G>T (p.Arg254=) c.2352G>T (p.Arg784=) c.2076G>T (p.Arg692=) c.2340G>T (p.Arg780=) c.2538G>T (p.Arg846=) c.2943G>T (p.Arg981=) | |
15 | g.22903852C= | CA2163978108 | CYFIP1 | c.2436G= (p.Arg812=) c.2442G= (p.Arg814=) c.1149G= (p.Arg383=) n.835G= n.1589G= c.2841G= (p.Arg947=) c.2544G= (p.Arg848=) c.762G= (p.Arg254=) c.2352G= (p.Arg784=) c.2076G= (p.Arg692=) c.2340G= (p.Arg780=) c.2538G= (p.Arg846=) c.2943G= (p.Arg981=) | |
15 | g.22903852C>G | CA488526494 | CYFIP1 | c.2436G>C (p.Arg812=) c.2442G>C (p.Arg814=) c.1149G>C (p.Arg383=) n.835G>C n.1589G>C c.2841G>C (p.Arg947=) c.2544G>C (p.Arg848=) c.762G>C (p.Arg254=) c.2352G>C (p.Arg784=) c.2076G>C (p.Arg692=) c.2340G>C (p.Arg780=) c.2538G>C (p.Arg846=) c.2943G>C (p.Arg981=) | |
15 | g.22903852C>T | CA488526492 | CYFIP1 | c.2436G>A (p.Arg812=) c.2442G>A (p.Arg814=) c.1149G>A (p.Arg383=) n.835G>A n.1589G>A c.2841G>A (p.Arg947=) c.2544G>A (p.Arg848=) c.762G>A (p.Arg254=) c.2352G>A (p.Arg784=) c.2076G>A (p.Arg692=) c.2340G>A (p.Arg780=) c.2538G>A (p.Arg846=) c.2943G>A (p.Arg981=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903853C>A | CA391334706 | CYFIP1 | c.2435G>T (p.Arg812Leu) c.2441G>T (p.Arg814Leu) c.1148G>T (p.Arg383Leu) n.834G>T n.1588G>T c.2840G>T (p.Arg947Leu) c.2543G>T (p.Arg848Leu) c.761G>T (p.Arg254Leu) c.2351G>T (p.Arg784Leu) c.2075G>T (p.Arg692Leu) c.2339G>T (p.Arg780Leu) c.2537G>T (p.Arg846Leu) c.2942G>T (p.Arg981Leu) | |
15 | g.22903853C= | CA2163978111 | CYFIP1 | c.2435G= (p.Arg812=) c.2441G= (p.Arg814=) c.1148G= (p.Arg383=) n.834G= n.1588G= c.2840G= (p.Arg947=) c.2543G= (p.Arg848=) c.761G= (p.Arg254=) c.2351G= (p.Arg784=) c.2075G= (p.Arg692=) c.2339G= (p.Arg780=) c.2537G= (p.Arg846=) c.2942G= (p.Arg981=) | |
15 | g.22903853C>G | CA391334708 | CYFIP1 | c.2435G>C (p.Arg812Pro) c.2441G>C (p.Arg814Pro) c.1148G>C (p.Arg383Pro) n.834G>C n.1588G>C c.2840G>C (p.Arg947Pro) c.2543G>C (p.Arg848Pro) c.761G>C (p.Arg254Pro) c.2351G>C (p.Arg784Pro) c.2075G>C (p.Arg692Pro) c.2339G>C (p.Arg780Pro) c.2537G>C (p.Arg846Pro) c.2942G>C (p.Arg981Pro) | |
15 | g.22903853C>T | CA7425099 | CYFIP1 | c.2435G>A (p.Arg812Gln) c.2441G>A (p.Arg814Gln) c.1148G>A (p.Arg383Gln) n.834G>A n.1588G>A c.2840G>A (p.Arg947Gln) c.2543G>A (p.Arg848Gln) c.761G>A (p.Arg254Gln) c.2351G>A (p.Arg784Gln) c.2075G>A (p.Arg692Gln) c.2339G>A (p.Arg780Gln) c.2537G>A (p.Arg846Gln) c.2942G>A (p.Arg981Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903854G>A | CA7425098 | CYFIP1 | c.2434C>T (p.Arg812Trp) c.2440C>T (p.Arg814Trp) c.1147C>T (p.Arg383Trp) n.833C>T n.1587C>T c.2839C>T (p.Arg947Trp) c.2542C>T (p.Arg848Trp) c.760C>T (p.Arg254Trp) c.2350C>T (p.Arg784Trp) c.2074C>T (p.Arg692Trp) c.2338C>T (p.Arg780Trp) c.2536C>T (p.Arg846Trp) c.2941C>T (p.Arg981Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.22903854G>C | CA391334712 | CYFIP1 | c.2434C>G (p.Arg812Gly) c.2440C>G (p.Arg814Gly) c.1147C>G (p.Arg383Gly) n.833C>G n.1587C>G c.2839C>G (p.Arg947Gly) c.2542C>G (p.Arg848Gly) c.760C>G (p.Arg254Gly) c.2350C>G (p.Arg784Gly) c.2074C>G (p.Arg692Gly) c.2338C>G (p.Arg780Gly) c.2536C>G (p.Arg846Gly) c.2941C>G (p.Arg981Gly) | gnomAD v4 |
15 | g.22903854G= | CA2163978115 | CYFIP1 | c.2434C= (p.Arg812=) c.2440C= (p.Arg814=) c.1147C= (p.Arg383=) n.833C= n.1587C= c.2839C= (p.Arg947=) c.2542C= (p.Arg848=) c.760C= (p.Arg254=) c.2350C= (p.Arg784=) c.2074C= (p.Arg692=) c.2338C= (p.Arg780=) c.2536C= (p.Arg846=) c.2941C= (p.Arg981=) | |
15 | g.22903854G>T | CA488526495 | CYFIP1 | c.2434C>A (p.Arg812=) c.2440C>A (p.Arg814=) c.1147C>A (p.Arg383=) n.833C>A n.1587C>A c.2839C>A (p.Arg947=) c.2542C>A (p.Arg848=) c.760C>A (p.Arg254=) c.2350C>A (p.Arg784=) c.2074C>A (p.Arg692=) c.2338C>A (p.Arg780=) c.2536C>A (p.Arg846=) c.2941C>A (p.Arg981=) | |
15 | g.22903855G>A | CA488526496 | CYFIP1 | c.2433C>T (p.Ser811=) c.2439C>T (p.Ser813=) c.1146C>T (p.Ser382=) n.832C>T n.1586C>T c.2838C>T (p.Ser946=) c.2541C>T (p.Ser847=) c.759C>T (p.Ser253=) c.2349C>T (p.Ser783=) c.2073C>T (p.Ser691=) c.2337C>T (p.Ser779=) c.2535C>T (p.Ser845=) c.2940C>T (p.Ser980=) | dbSNP |
15 | g.22903855G>C | CA391334714 | CYFIP1 | c.2433C>G (p.Ser811Arg) c.2439C>G (p.Ser813Arg) c.1146C>G (p.Ser382Arg) n.832C>G n.1586C>G c.2838C>G (p.Ser946Arg) c.2541C>G (p.Ser847Arg) c.759C>G (p.Ser253Arg) c.2349C>G (p.Ser783Arg) c.2073C>G (p.Ser691Arg) c.2337C>G (p.Ser779Arg) c.2535C>G (p.Ser845Arg) c.2940C>G (p.Ser980Arg) | |
15 | g.22903855G= | CA2163978120 | CYFIP1 | c.2433C= (p.Ser811=) c.2439C= (p.Ser813=) c.1146C= (p.Ser382=) n.832C= n.1586C= c.2838C= (p.Ser946=) c.2541C= (p.Ser847=) c.759C= (p.Ser253=) c.2349C= (p.Ser783=) c.2073C= (p.Ser691=) c.2337C= (p.Ser779=) c.2535C= (p.Ser845=) c.2940C= (p.Ser980=) | |
15 | g.22903855G>T | CA7425097 | CYFIP1 | c.2433C>A (p.Ser811Arg) c.2439C>A (p.Ser813Arg) c.1146C>A (p.Ser382Arg) n.832C>A n.1586C>A c.2838C>A (p.Ser946Arg) c.2541C>A (p.Ser847Arg) c.759C>A (p.Ser253Arg) c.2349C>A (p.Ser783Arg) c.2073C>A (p.Ser691Arg) c.2337C>A (p.Ser779Arg) c.2535C>A (p.Ser845Arg) c.2940C>A (p.Ser980Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903856C>A | CA391334716 | CYFIP1 | c.2432G>T (p.Ser811Ile) c.2438G>T (p.Ser813Ile) c.1145G>T (p.Ser382Ile) n.831G>T n.1585G>T c.2837G>T (p.Ser946Ile) c.2540G>T (p.Ser847Ile) c.758G>T (p.Ser253Ile) c.2348G>T (p.Ser783Ile) c.2072G>T (p.Ser691Ile) c.2336G>T (p.Ser779Ile) c.2534G>T (p.Ser845Ile) c.2939G>T (p.Ser980Ile) | |
15 | g.22903856C= | CA2163978124 | CYFIP1 | c.2432G= (p.Ser811=) c.2438G= (p.Ser813=) c.1145G= (p.Ser382=) n.831G= n.1585G= c.2837G= (p.Ser946=) c.2540G= (p.Ser847=) c.758G= (p.Ser253=) c.2348G= (p.Ser783=) c.2072G= (p.Ser691=) c.2336G= (p.Ser779=) c.2534G= (p.Ser845=) c.2939G= (p.Ser980=) | |
15 | g.22903856C>G | CA391334718 | CYFIP1 | c.2432G>C (p.Ser811Thr) c.2438G>C (p.Ser813Thr) c.1145G>C (p.Ser382Thr) n.831G>C n.1585G>C c.2837G>C (p.Ser946Thr) c.2540G>C (p.Ser847Thr) c.758G>C (p.Ser253Thr) c.2348G>C (p.Ser783Thr) c.2072G>C (p.Ser691Thr) c.2336G>C (p.Ser779Thr) c.2534G>C (p.Ser845Thr) c.2939G>C (p.Ser980Thr) | |
15 | g.22903856C>T | CA391334720 | CYFIP1 | c.2432G>A (p.Ser811Asn) c.2438G>A (p.Ser813Asn) c.1145G>A (p.Ser382Asn) n.831G>A n.1585G>A c.2837G>A (p.Ser946Asn) c.2540G>A (p.Ser847Asn) c.758G>A (p.Ser253Asn) c.2348G>A (p.Ser783Asn) c.2072G>A (p.Ser691Asn) c.2336G>A (p.Ser779Asn) c.2534G>A (p.Ser845Asn) c.2939G>A (p.Ser980Asn) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903857T>A | CA391334722 | CYFIP1 | c.2431A>T (p.Ser811Cys) c.2437A>T (p.Ser813Cys) c.1144A>T (p.Ser382Cys) n.830A>T n.1584A>T c.2836A>T (p.Ser946Cys) c.2539A>T (p.Ser847Cys) c.757A>T (p.Ser253Cys) c.2347A>T (p.Ser783Cys) c.2071A>T (p.Ser691Cys) c.2335A>T (p.Ser779Cys) c.2533A>T (p.Ser845Cys) c.2938A>T (p.Ser980Cys) | |
15 | g.22903857T>C | CA391334723 | CYFIP1 | c.2431A>G (p.Ser811Gly) c.2437A>G (p.Ser813Gly) c.1144A>G (p.Ser382Gly) n.830A>G n.1584A>G c.2836A>G (p.Ser946Gly) c.2539A>G (p.Ser847Gly) c.757A>G (p.Ser253Gly) c.2347A>G (p.Ser783Gly) c.2071A>G (p.Ser691Gly) c.2335A>G (p.Ser779Gly) c.2533A>G (p.Ser845Gly) c.2938A>G (p.Ser980Gly) | |
15 | g.22903857T>G | CA391334725 | CYFIP1 | c.2431A>C (p.Ser811Arg) c.2437A>C (p.Ser813Arg) c.1144A>C (p.Ser382Arg) n.830A>C n.1584A>C c.2836A>C (p.Ser946Arg) c.2539A>C (p.Ser847Arg) c.757A>C (p.Ser253Arg) c.2347A>C (p.Ser783Arg) c.2071A>C (p.Ser691Arg) c.2335A>C (p.Ser779Arg) c.2533A>C (p.Ser845Arg) c.2938A>C (p.Ser980Arg) | |
15 | g.22903858C>A | CA488526497 | CYFIP1 | c.2430G>T (p.Leu810=) c.2436G>T (p.Leu812=) c.1143G>T (p.Leu381=) n.829G>T n.1583G>T c.2835G>T (p.Leu945=) c.2538G>T (p.Leu846=) c.756G>T (p.Leu252=) c.2346G>T (p.Leu782=) c.2070G>T (p.Leu690=) c.2334G>T (p.Leu778=) c.2532G>T (p.Leu844=) c.2937G>T (p.Leu979=) | |
15 | g.22903858C= | CA2163978126 | CYFIP1 | c.2430G= (p.Leu810=) c.2436G= (p.Leu812=) c.1143G= (p.Leu381=) n.829G= n.1583G= c.2835G= (p.Leu945=) c.2538G= (p.Leu846=) c.756G= (p.Leu252=) c.2346G= (p.Leu782=) c.2070G= (p.Leu690=) c.2334G= (p.Leu778=) c.2532G= (p.Leu844=) c.2937G= (p.Leu979=) | |
15 | g.22903858C>G | CA488526498 | CYFIP1 | c.2430G>C (p.Leu810=) c.2436G>C (p.Leu812=) c.1143G>C (p.Leu381=) n.829G>C n.1583G>C c.2835G>C (p.Leu945=) c.2538G>C (p.Leu846=) c.756G>C (p.Leu252=) c.2346G>C (p.Leu782=) c.2070G>C (p.Leu690=) c.2334G>C (p.Leu778=) c.2532G>C (p.Leu844=) c.2937G>C (p.Leu979=) | |
15 | g.22903858C>T | CA488526499 | CYFIP1 | c.2430G>A (p.Leu810=) c.2436G>A (p.Leu812=) c.1143G>A (p.Leu381=) n.829G>A n.1583G>A c.2835G>A (p.Leu945=) c.2538G>A (p.Leu846=) c.756G>A (p.Leu252=) c.2346G>A (p.Leu782=) c.2070G>A (p.Leu690=) c.2334G>A (p.Leu778=) c.2532G>A (p.Leu844=) c.2937G>A (p.Leu979=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903859A>C | CA391334728 | CYFIP1 | c.2429T>G (p.Leu810Arg) c.2435T>G (p.Leu812Arg) c.1142T>G (p.Leu381Arg) n.828T>G n.1582T>G c.2834T>G (p.Leu945Arg) c.2537T>G (p.Leu846Arg) c.755T>G (p.Leu252Arg) c.2345T>G (p.Leu782Arg) c.2069T>G (p.Leu690Arg) c.2333T>G (p.Leu778Arg) c.2531T>G (p.Leu844Arg) c.2936T>G (p.Leu979Arg) | |
15 | g.22903859A>G | CA391334729 | CYFIP1 | c.2429T>C (p.Leu810Pro) c.2435T>C (p.Leu812Pro) c.1142T>C (p.Leu381Pro) n.828T>C n.1582T>C c.2834T>C (p.Leu945Pro) c.2537T>C (p.Leu846Pro) c.755T>C (p.Leu252Pro) c.2345T>C (p.Leu782Pro) c.2069T>C (p.Leu690Pro) c.2333T>C (p.Leu778Pro) c.2531T>C (p.Leu844Pro) c.2936T>C (p.Leu979Pro) | |
15 | g.22903859A>T | CA391334731 | CYFIP1 | c.2429T>A (p.Leu810Gln) c.2435T>A (p.Leu812Gln) c.1142T>A (p.Leu381Gln) n.828T>A n.1582T>A c.2834T>A (p.Leu945Gln) c.2537T>A (p.Leu846Gln) c.755T>A (p.Leu252Gln) c.2345T>A (p.Leu782Gln) c.2069T>A (p.Leu690Gln) c.2333T>A (p.Leu778Gln) c.2531T>A (p.Leu844Gln) c.2936T>A (p.Leu979Gln) | |
15 | g.22903860G>A | CA488526500 | CYFIP1 | c.2428C>T (p.Leu810=) c.2434C>T (p.Leu812=) c.1141C>T (p.Leu381=) n.827C>T n.1581C>T c.2833C>T (p.Leu945=) c.2536C>T (p.Leu846=) c.754C>T (p.Leu252=) c.2344C>T (p.Leu782=) c.2068C>T (p.Leu690=) c.2332C>T (p.Leu778=) c.2530C>T (p.Leu844=) c.2935C>T (p.Leu979=) | |
15 | g.22903860G>C | CA267616613 | CYFIP1 | c.2428C>G (p.Leu810Val) c.2434C>G (p.Leu812Val) c.1141C>G (p.Leu381Val) n.827C>G n.1581C>G c.2833C>G (p.Leu945Val) c.2536C>G (p.Leu846Val) c.754C>G (p.Leu252Val) c.2344C>G (p.Leu782Val) c.2068C>G (p.Leu690Val) c.2332C>G (p.Leu778Val) c.2530C>G (p.Leu844Val) c.2935C>G (p.Leu979Val) | dbSNP gnomAD v4 |
15 | g.22903860G= | CA2163978130 | CYFIP1 | c.2428C= (p.Leu810=) c.2434C= (p.Leu812=) c.1141C= (p.Leu381=) n.827C= n.1581C= c.2833C= (p.Leu945=) c.2536C= (p.Leu846=) c.754C= (p.Leu252=) c.2344C= (p.Leu782=) c.2068C= (p.Leu690=) c.2332C= (p.Leu778=) c.2530C= (p.Leu844=) c.2935C= (p.Leu979=) | |
15 | g.22903860G>T | CA391334734 | CYFIP1 | c.2428C>A (p.Leu810Met) c.2434C>A (p.Leu812Met) c.1141C>A (p.Leu381Met) n.827C>A n.1581C>A c.2833C>A (p.Leu945Met) c.2536C>A (p.Leu846Met) c.754C>A (p.Leu252Met) c.2344C>A (p.Leu782Met) c.2068C>A (p.Leu690Met) c.2332C>A (p.Leu778Met) c.2530C>A (p.Leu844Met) c.2935C>A (p.Leu979Met) | |
15 | g.22903861C>A | CA488526501 | CYFIP1 | c.2427G>T (p.Leu809=) c.2433G>T (p.Leu811=) c.1140G>T (p.Leu380=) n.826G>T n.1580G>T c.2832G>T (p.Leu944=) c.2535G>T (p.Leu845=) c.753G>T (p.Leu251=) c.2343G>T (p.Leu781=) c.2067G>T (p.Leu689=) c.2331G>T (p.Leu777=) c.2529G>T (p.Leu843=) c.2934G>T (p.Leu978=) | |
15 | g.22903861C>G | CA488526502 | CYFIP1 | c.2427G>C (p.Leu809=) c.2433G>C (p.Leu811=) c.1140G>C (p.Leu380=) n.826G>C n.1580G>C c.2832G>C (p.Leu944=) c.2535G>C (p.Leu845=) c.753G>C (p.Leu251=) c.2343G>C (p.Leu781=) c.2067G>C (p.Leu689=) c.2331G>C (p.Leu777=) c.2529G>C (p.Leu843=) c.2934G>C (p.Leu978=) | |
15 | g.22903861C>T | CA488526503 | CYFIP1 | c.2427G>A (p.Leu809=) c.2433G>A (p.Leu811=) c.1140G>A (p.Leu380=) n.826G>A n.1580G>A c.2832G>A (p.Leu944=) c.2535G>A (p.Leu845=) c.753G>A (p.Leu251=) c.2343G>A (p.Leu781=) c.2067G>A (p.Leu689=) c.2331G>A (p.Leu777=) c.2529G>A (p.Leu843=) c.2934G>A (p.Leu978=) | |
15 | g.22903862A>C | CA391334738 | CYFIP1 | c.2426T>G (p.Leu809Arg) c.2432T>G (p.Leu811Arg) c.1139T>G (p.Leu380Arg) n.825T>G n.1579T>G c.2831T>G (p.Leu944Arg) c.2534T>G (p.Leu845Arg) c.752T>G (p.Leu251Arg) c.2342T>G (p.Leu781Arg) c.2066T>G (p.Leu689Arg) c.2330T>G (p.Leu777Arg) c.2528T>G (p.Leu843Arg) c.2933T>G (p.Leu978Arg) | |
15 | g.22903862A>G | CA391334740 | CYFIP1 | c.2426T>C (p.Leu809Pro) c.2432T>C (p.Leu811Pro) c.1139T>C (p.Leu380Pro) n.825T>C n.1579T>C c.2831T>C (p.Leu944Pro) c.2534T>C (p.Leu845Pro) c.752T>C (p.Leu251Pro) c.2342T>C (p.Leu781Pro) c.2066T>C (p.Leu689Pro) c.2330T>C (p.Leu777Pro) c.2528T>C (p.Leu843Pro) c.2933T>C (p.Leu978Pro) | |
15 | g.22903862A>T | CA391334736 | CYFIP1 | c.2426T>A (p.Leu809Gln) c.2432T>A (p.Leu811Gln) c.1139T>A (p.Leu380Gln) n.825T>A n.1579T>A c.2831T>A (p.Leu944Gln) c.2534T>A (p.Leu845Gln) c.752T>A (p.Leu251Gln) c.2342T>A (p.Leu781Gln) c.2066T>A (p.Leu689Gln) c.2330T>A (p.Leu777Gln) c.2528T>A (p.Leu843Gln) c.2933T>A (p.Leu978Gln) | |
15 | g.22903863G>A | CA488526504 | CYFIP1 | c.2425C>T (p.Leu809=) c.2431C>T (p.Leu811=) c.1138C>T (p.Leu380=) n.824C>T n.1578C>T c.2830C>T (p.Leu944=) c.2533C>T (p.Leu845=) c.751C>T (p.Leu251=) c.2341C>T (p.Leu781=) c.2065C>T (p.Leu689=) c.2329C>T (p.Leu777=) c.2527C>T (p.Leu843=) c.2932C>T (p.Leu978=) | |
15 | g.22903863G>C | CA391334744 | CYFIP1 | c.2425C>G (p.Leu809Val) c.2431C>G (p.Leu811Val) c.1138C>G (p.Leu380Val) n.824C>G n.1578C>G c.2830C>G (p.Leu944Val) c.2533C>G (p.Leu845Val) c.751C>G (p.Leu251Val) c.2341C>G (p.Leu781Val) c.2065C>G (p.Leu689Val) c.2329C>G (p.Leu777Val) c.2527C>G (p.Leu843Val) c.2932C>G (p.Leu978Val) | |
15 | g.22903863G>T | CA391334742 | CYFIP1 | c.2425C>A (p.Leu809Met) c.2431C>A (p.Leu811Met) c.1138C>A (p.Leu380Met) n.824C>A n.1578C>A c.2830C>A (p.Leu944Met) c.2533C>A (p.Leu845Met) c.751C>A (p.Leu251Met) c.2341C>A (p.Leu781Met) c.2065C>A (p.Leu689Met) c.2329C>A (p.Leu777Met) c.2527C>A (p.Leu843Met) c.2932C>A (p.Leu978Met) | |
15 | g.22903864C>A | CA391334747 | CYFIP1 | c.2424G>T (p.Lys808Asn) c.2430G>T (p.Lys810Asn) c.1137G>T (p.Lys379Asn) n.823G>T n.1577G>T c.2829G>T (p.Lys943Asn) c.2532G>T (p.Lys844Asn) c.750G>T (p.Lys250Asn) c.2340G>T (p.Lys780Asn) c.2064G>T (p.Lys688Asn) c.2328G>T (p.Lys776Asn) c.2526G>T (p.Lys842Asn) c.2931G>T (p.Lys977Asn) | |
15 | g.22903864C>G | CA391334746 | CYFIP1 | c.2424G>C (p.Lys808Asn) c.2430G>C (p.Lys810Asn) c.1137G>C (p.Lys379Asn) n.823G>C n.1577G>C c.2829G>C (p.Lys943Asn) c.2532G>C (p.Lys844Asn) c.750G>C (p.Lys250Asn) c.2340G>C (p.Lys780Asn) c.2064G>C (p.Lys688Asn) c.2328G>C (p.Lys776Asn) c.2526G>C (p.Lys842Asn) c.2931G>C (p.Lys977Asn) | |
15 | g.22903864C>T | CA488526505 | CYFIP1 | c.2424G>A (p.Lys808=) c.2430G>A (p.Lys810=) c.1137G>A (p.Lys379=) n.823G>A n.1577G>A c.2829G>A (p.Lys943=) c.2532G>A (p.Lys844=) c.750G>A (p.Lys250=) c.2340G>A (p.Lys780=) c.2064G>A (p.Lys688=) c.2328G>A (p.Lys776=) c.2526G>A (p.Lys842=) c.2931G>A (p.Lys977=) | |
15 | g.22903865T>A | CA391334750 | CYFIP1 | c.2423A>T (p.Lys808Met) c.2429A>T (p.Lys810Met) c.1136A>T (p.Lys379Met) n.822A>T n.1576A>T c.2828A>T (p.Lys943Met) c.2531A>T (p.Lys844Met) c.749A>T (p.Lys250Met) c.2339A>T (p.Lys780Met) c.2063A>T (p.Lys688Met) c.2327A>T (p.Lys776Met) c.2525A>T (p.Lys842Met) c.2930A>T (p.Lys977Met) | gnomAD v4 |
15 | g.22903865T>C | CA391334752 | CYFIP1 | c.2423A>G (p.Lys808Arg) c.2429A>G (p.Lys810Arg) c.1136A>G (p.Lys379Arg) n.822A>G n.1576A>G c.2828A>G (p.Lys943Arg) c.2531A>G (p.Lys844Arg) c.749A>G (p.Lys250Arg) c.2339A>G (p.Lys780Arg) c.2063A>G (p.Lys688Arg) c.2327A>G (p.Lys776Arg) c.2525A>G (p.Lys842Arg) c.2930A>G (p.Lys977Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903865T>G | CA391334753 | CYFIP1 | c.2423A>C (p.Lys808Thr) c.2429A>C (p.Lys810Thr) c.1136A>C (p.Lys379Thr) n.822A>C n.1576A>C c.2828A>C (p.Lys943Thr) c.2531A>C (p.Lys844Thr) c.749A>C (p.Lys250Thr) c.2339A>C (p.Lys780Thr) c.2063A>C (p.Lys688Thr) c.2327A>C (p.Lys776Thr) c.2525A>C (p.Lys842Thr) c.2930A>C (p.Lys977Thr) | |
15 | g.22903865T= | CA2163978132 | CYFIP1 | c.2423A= (p.Lys808=) c.2429A= (p.Lys810=) c.1136A= (p.Lys379=) n.822A= n.1576A= c.2828A= (p.Lys943=) c.2531A= (p.Lys844=) c.749A= (p.Lys250=) c.2339A= (p.Lys780=) c.2063A= (p.Lys688=) c.2327A= (p.Lys776=) c.2525A= (p.Lys842=) c.2930A= (p.Lys977=) | |
15 | g.22903866T>A | CA391334755 | CYFIP1 | c.2422A>T (p.Lys808Ter) c.2428A>T (p.Lys810Ter) c.1135A>T (p.Lys379Ter) n.821A>T n.1575A>T c.2827A>T (p.Lys943Ter) c.2530A>T (p.Lys844Ter) c.748A>T (p.Lys250Ter) c.2338A>T (p.Lys780Ter) c.2062A>T (p.Lys688Ter) c.2326A>T (p.Lys776Ter) c.2524A>T (p.Lys842Ter) c.2929A>T (p.Lys977Ter) | |
15 | g.22903866T>C | CA7425096 | CYFIP1 | c.2422A>G (p.Lys808Glu) c.2428A>G (p.Lys810Glu) c.1135A>G (p.Lys379Glu) n.821A>G n.1575A>G c.2827A>G (p.Lys943Glu) c.2530A>G (p.Lys844Glu) c.748A>G (p.Lys250Glu) c.2338A>G (p.Lys780Glu) c.2062A>G (p.Lys688Glu) c.2326A>G (p.Lys776Glu) c.2524A>G (p.Lys842Glu) c.2929A>G (p.Lys977Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903866T>G | CA391334758 | CYFIP1 | c.2422A>C (p.Lys808Gln) c.2428A>C (p.Lys810Gln) c.1135A>C (p.Lys379Gln) n.821A>C n.1575A>C c.2827A>C (p.Lys943Gln) c.2530A>C (p.Lys844Gln) c.748A>C (p.Lys250Gln) c.2338A>C (p.Lys780Gln) c.2062A>C (p.Lys688Gln) c.2326A>C (p.Lys776Gln) c.2524A>C (p.Lys842Gln) c.2929A>C (p.Lys977Gln) | |
15 | g.22903866T= | CA2163978134 | CYFIP1 | c.2422A= (p.Lys808=) c.2428A= (p.Lys810=) c.1135A= (p.Lys379=) n.821A= n.1575A= c.2827A= (p.Lys943=) c.2530A= (p.Lys844=) c.748A= (p.Lys250=) c.2338A= (p.Lys780=) c.2062A= (p.Lys688=) c.2326A= (p.Lys776=) c.2524A= (p.Lys842=) c.2929A= (p.Lys977=) | |
15 | g.22903867G>A | CA488526506 | CYFIP1 | c.2421C>T (p.His807=) c.2427C>T (p.His809=) c.1134C>T (p.His378=) n.820C>T n.1574C>T c.2826C>T (p.His942=) c.2529C>T (p.His843=) c.747C>T (p.His249=) c.2337C>T (p.His779=) c.2061C>T (p.His687=) c.2325C>T (p.His775=) c.2523C>T (p.His841=) c.2928C>T (p.His976=) | |
15 | g.22903867G>C | CA391334762 | CYFIP1 | c.2421C>G (p.His807Gln) c.2427C>G (p.His809Gln) c.1134C>G (p.His378Gln) n.820C>G n.1574C>G c.2826C>G (p.His942Gln) c.2529C>G (p.His843Gln) c.747C>G (p.His249Gln) c.2337C>G (p.His779Gln) c.2061C>G (p.His687Gln) c.2325C>G (p.His775Gln) c.2523C>G (p.His841Gln) c.2928C>G (p.His976Gln) | |
15 | g.22903867G>T | CA391334760 | CYFIP1 | c.2421C>A (p.His807Gln) c.2427C>A (p.His809Gln) c.1134C>A (p.His378Gln) n.820C>A n.1574C>A c.2826C>A (p.His942Gln) c.2529C>A (p.His843Gln) c.747C>A (p.His249Gln) c.2337C>A (p.His779Gln) c.2061C>A (p.His687Gln) c.2325C>A (p.His775Gln) c.2523C>A (p.His841Gln) c.2928C>A (p.His976Gln) | gnomAD v4 |
15 | g.22903868T>A | CA391334764 | CYFIP1 | c.2420A>T (p.His807Leu) c.2426A>T (p.His809Leu) c.1133A>T (p.His378Leu) n.819A>T n.1573A>T c.2825A>T (p.His942Leu) c.2528A>T (p.His843Leu) c.746A>T (p.His249Leu) c.2336A>T (p.His779Leu) c.2060A>T (p.His687Leu) c.2324A>T (p.His775Leu) c.2522A>T (p.His841Leu) c.2927A>T (p.His976Leu) | dbSNP gnomAD v4 |
15 | g.22903868T>C | CA7425095 | CYFIP1 | c.2420A>G (p.His807Arg) c.2426A>G (p.His809Arg) c.1133A>G (p.His378Arg) n.819A>G n.1573A>G c.2825A>G (p.His942Arg) c.2528A>G (p.His843Arg) c.746A>G (p.His249Arg) c.2336A>G (p.His779Arg) c.2060A>G (p.His687Arg) c.2324A>G (p.His775Arg) c.2522A>G (p.His841Arg) c.2927A>G (p.His976Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903868T>G | CA391334767 | CYFIP1 | c.2420A>C (p.His807Pro) c.2426A>C (p.His809Pro) c.1133A>C (p.His378Pro) n.819A>C n.1573A>C c.2825A>C (p.His942Pro) c.2528A>C (p.His843Pro) c.746A>C (p.His249Pro) c.2336A>C (p.His779Pro) c.2060A>C (p.His687Pro) c.2324A>C (p.His775Pro) c.2522A>C (p.His841Pro) c.2927A>C (p.His976Pro) | dbSNP |
15 | g.22903868T= | CA2163978137 | CYFIP1 | c.2420A= (p.His807=) c.2426A= (p.His809=) c.1133A= (p.His378=) n.819A= n.1573A= c.2825A= (p.His942=) c.2528A= (p.His843=) c.746A= (p.His249=) c.2336A= (p.His779=) c.2060A= (p.His687=) c.2324A= (p.His775=) c.2522A= (p.His841=) c.2927A= (p.His976=) | |
15 | g.22903869G>A | CA391334769 | CYFIP1 | c.2419C>T (p.His807Tyr) c.2425C>T (p.His809Tyr) c.1132C>T (p.His378Tyr) n.818C>T n.1572C>T c.2824C>T (p.His942Tyr) c.2527C>T (p.His843Tyr) c.745C>T (p.His249Tyr) c.2335C>T (p.His779Tyr) c.2059C>T (p.His687Tyr) c.2323C>T (p.His775Tyr) c.2521C>T (p.His841Tyr) c.2926C>T (p.His976Tyr) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903869G>C | CA391334770 | CYFIP1 | c.2419C>G (p.His807Asp) c.2425C>G (p.His809Asp) c.1132C>G (p.His378Asp) n.818C>G n.1572C>G c.2824C>G (p.His942Asp) c.2527C>G (p.His843Asp) c.745C>G (p.His249Asp) c.2335C>G (p.His779Asp) c.2059C>G (p.His687Asp) c.2323C>G (p.His775Asp) c.2521C>G (p.His841Asp) c.2926C>G (p.His976Asp) | |
15 | g.22903869G= | CA2163978141 | CYFIP1 | c.2419C= (p.His807=) c.2425C= (p.His809=) c.1132C= (p.His378=) n.818C= n.1572C= c.2824C= (p.His942=) c.2527C= (p.His843=) c.745C= (p.His249=) c.2335C= (p.His779=) c.2059C= (p.His687=) c.2323C= (p.His775=) c.2521C= (p.His841=) c.2926C= (p.His976=) | |
15 | g.22903869G>T | CA391334772 | CYFIP1 | c.2419C>A (p.His807Asn) c.2425C>A (p.His809Asn) c.1132C>A (p.His378Asn) n.818C>A n.1572C>A c.2824C>A (p.His942Asn) c.2527C>A (p.His843Asn) c.745C>A (p.His249Asn) c.2335C>A (p.His779Asn) c.2059C>A (p.His687Asn) c.2323C>A (p.His775Asn) c.2521C>A (p.His841Asn) c.2926C>A (p.His976Asn) | |
15 | g.22903870G>A | CA488526508 | CYFIP1 | c.2418C>T (p.Thr806=) c.2424C>T (p.Thr808=) c.1131C>T (p.Thr377=) n.817C>T n.1571C>T c.2823C>T (p.Thr941=) c.2526C>T (p.Thr842=) c.744C>T (p.Thr248=) c.2334C>T (p.Thr778=) c.2058C>T (p.Thr686=) c.2322C>T (p.Thr774=) c.2520C>T (p.Thr840=) c.2925C>T (p.Thr975=) | |
15 | g.22903870G>C | CA488526507 | CYFIP1 | c.2418C>G (p.Thr806=) c.2424C>G (p.Thr808=) c.1131C>G (p.Thr377=) n.817C>G n.1571C>G c.2823C>G (p.Thr941=) c.2526C>G (p.Thr842=) c.744C>G (p.Thr248=) c.2334C>G (p.Thr778=) c.2058C>G (p.Thr686=) c.2322C>G (p.Thr774=) c.2520C>G (p.Thr840=) c.2925C>G (p.Thr975=) | |
15 | g.22903870G>T | CA488526509 | CYFIP1 | c.2418C>A (p.Thr806=) c.2424C>A (p.Thr808=) c.1131C>A (p.Thr377=) n.817C>A n.1571C>A c.2823C>A (p.Thr941=) c.2526C>A (p.Thr842=) c.744C>A (p.Thr248=) c.2334C>A (p.Thr778=) c.2058C>A (p.Thr686=) c.2322C>A (p.Thr774=) c.2520C>A (p.Thr840=) c.2925C>A (p.Thr975=) | |
15 | g.22903871G>A | CA391334773 | CYFIP1 | c.2417C>T (p.Thr806Ile) c.2423C>T (p.Thr808Ile) c.1130C>T (p.Thr377Ile) n.816C>T n.1570C>T c.2822C>T (p.Thr941Ile) c.2525C>T (p.Thr842Ile) c.743C>T (p.Thr248Ile) c.2333C>T (p.Thr778Ile) c.2057C>T (p.Thr686Ile) c.2321C>T (p.Thr774Ile) c.2519C>T (p.Thr840Ile) c.2924C>T (p.Thr975Ile) | |
15 | g.22903871G>C | CA391334776 | CYFIP1 | c.2417C>G (p.Thr806Ser) c.2423C>G (p.Thr808Ser) c.1130C>G (p.Thr377Ser) n.816C>G n.1570C>G c.2822C>G (p.Thr941Ser) c.2525C>G (p.Thr842Ser) c.743C>G (p.Thr248Ser) c.2333C>G (p.Thr778Ser) c.2057C>G (p.Thr686Ser) c.2321C>G (p.Thr774Ser) c.2519C>G (p.Thr840Ser) c.2924C>G (p.Thr975Ser) | |
15 | g.22903871G>T | CA391334775 | CYFIP1 | c.2417C>A (p.Thr806Asn) c.2423C>A (p.Thr808Asn) c.1130C>A (p.Thr377Asn) n.816C>A n.1570C>A c.2822C>A (p.Thr941Asn) c.2525C>A (p.Thr842Asn) c.743C>A (p.Thr248Asn) c.2333C>A (p.Thr778Asn) c.2057C>A (p.Thr686Asn) c.2321C>A (p.Thr774Asn) c.2519C>A (p.Thr840Asn) c.2924C>A (p.Thr975Asn) | gnomAD v4 |
15 | g.22903872T>A | CA391334777 | CYFIP1 | c.2416A>T (p.Thr806Ser) c.2422A>T (p.Thr808Ser) c.1129A>T (p.Thr377Ser) n.815A>T n.1569A>T c.2821A>T (p.Thr941Ser) c.2524A>T (p.Thr842Ser) c.742A>T (p.Thr248Ser) c.2332A>T (p.Thr778Ser) c.2056A>T (p.Thr686Ser) c.2320A>T (p.Thr774Ser) c.2518A>T (p.Thr840Ser) c.2923A>T (p.Thr975Ser) | |
15 | g.22903872T>C | CA391334778 | CYFIP1 | c.2416A>G (p.Thr806Ala) c.2422A>G (p.Thr808Ala) c.1129A>G (p.Thr377Ala) n.815A>G n.1569A>G c.2821A>G (p.Thr941Ala) c.2524A>G (p.Thr842Ala) c.742A>G (p.Thr248Ala) c.2332A>G (p.Thr778Ala) c.2056A>G (p.Thr686Ala) c.2320A>G (p.Thr774Ala) c.2518A>G (p.Thr840Ala) c.2923A>G (p.Thr975Ala) | |
15 | g.22903872T>G | CA391334780 | CYFIP1 | c.2416A>C (p.Thr806Pro) c.2422A>C (p.Thr808Pro) c.1129A>C (p.Thr377Pro) n.815A>C n.1569A>C c.2821A>C (p.Thr941Pro) c.2524A>C (p.Thr842Pro) c.742A>C (p.Thr248Pro) c.2332A>C (p.Thr778Pro) c.2056A>C (p.Thr686Pro) c.2320A>C (p.Thr774Pro) c.2518A>C (p.Thr840Pro) c.2923A>C (p.Thr975Pro) | |
15 | g.22903873C>A | CA391334782 | CYFIP1 | c.2415G>T (p.Met805Ile) c.2421G>T (p.Met807Ile) c.1128G>T (p.Met376Ile) n.814G>T n.1568G>T c.2820G>T (p.Met940Ile) c.2523G>T (p.Met841Ile) c.741G>T (p.Met247Ile) c.2331G>T (p.Met777Ile) c.2055G>T (p.Met685Ile) c.2319G>T (p.Met773Ile) c.2517G>T (p.Met839Ile) c.2922G>T (p.Met974Ile) | |
15 | g.22903873C>G | CA391334783 | CYFIP1 | c.2415G>C (p.Met805Ile) c.2421G>C (p.Met807Ile) c.1128G>C (p.Met376Ile) n.814G>C n.1568G>C c.2820G>C (p.Met940Ile) c.2523G>C (p.Met841Ile) c.741G>C (p.Met247Ile) c.2331G>C (p.Met777Ile) c.2055G>C (p.Met685Ile) c.2319G>C (p.Met773Ile) c.2517G>C (p.Met839Ile) c.2922G>C (p.Met974Ile) | |
15 | g.22903873C>T | CA391334785 | CYFIP1 | c.2415G>A (p.Met805Ile) c.2421G>A (p.Met807Ile) c.1128G>A (p.Met376Ile) n.814G>A n.1568G>A c.2820G>A (p.Met940Ile) c.2523G>A (p.Met841Ile) c.741G>A (p.Met247Ile) c.2331G>A (p.Met777Ile) c.2055G>A (p.Met685Ile) c.2319G>A (p.Met773Ile) c.2517G>A (p.Met839Ile) c.2922G>A (p.Met974Ile) | |
15 | g.22903874A>C | CA391334787 | CYFIP1 | c.2414T>G (p.Met805Arg) c.2420T>G (p.Met807Arg) c.1127T>G (p.Met376Arg) n.813T>G n.1567T>G c.2819T>G (p.Met940Arg) c.2522T>G (p.Met841Arg) c.740T>G (p.Met247Arg) c.2330T>G (p.Met777Arg) c.2054T>G (p.Met685Arg) c.2318T>G (p.Met773Arg) c.2516T>G (p.Met839Arg) c.2921T>G (p.Met974Arg) | |
15 | g.22903874A>G | CA391334789 | CYFIP1 | c.2414T>C (p.Met805Thr) c.2420T>C (p.Met807Thr) c.1127T>C (p.Met376Thr) n.813T>C n.1567T>C c.2819T>C (p.Met940Thr) c.2522T>C (p.Met841Thr) c.740T>C (p.Met247Thr) c.2330T>C (p.Met777Thr) c.2054T>C (p.Met685Thr) c.2318T>C (p.Met773Thr) c.2516T>C (p.Met839Thr) c.2921T>C (p.Met974Thr) | |
15 | g.22903874A>T | CA391334791 | CYFIP1 | c.2414T>A (p.Met805Lys) c.2420T>A (p.Met807Lys) c.1127T>A (p.Met376Lys) n.813T>A n.1567T>A c.2819T>A (p.Met940Lys) c.2522T>A (p.Met841Lys) c.740T>A (p.Met247Lys) c.2330T>A (p.Met777Lys) c.2054T>A (p.Met685Lys) c.2318T>A (p.Met773Lys) c.2516T>A (p.Met839Lys) c.2921T>A (p.Met974Lys) | |
15 | g.22903875T>A | CA391334792 | CYFIP1 | c.2413A>T (p.Met805Leu) c.2419A>T (p.Met807Leu) c.1126A>T (p.Met376Leu) n.812A>T n.1566A>T c.2818A>T (p.Met940Leu) c.2521A>T (p.Met841Leu) c.739A>T (p.Met247Leu) c.2329A>T (p.Met777Leu) c.2053A>T (p.Met685Leu) c.2317A>T (p.Met773Leu) c.2515A>T (p.Met839Leu) c.2920A>T (p.Met974Leu) | |
15 | g.22903875T>C | CA267616622 | CYFIP1 | c.2413A>G (p.Met805Val) c.2419A>G (p.Met807Val) c.1126A>G (p.Met376Val) n.812A>G n.1566A>G c.2818A>G (p.Met940Val) c.2521A>G (p.Met841Val) c.739A>G (p.Met247Val) c.2329A>G (p.Met777Val) c.2053A>G (p.Met685Val) c.2317A>G (p.Met773Val) c.2515A>G (p.Met839Val) c.2920A>G (p.Met974Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903875T>G | CA391334794 | CYFIP1 | c.2413A>C (p.Met805Leu) c.2419A>C (p.Met807Leu) c.1126A>C (p.Met376Leu) n.812A>C n.1566A>C c.2818A>C (p.Met940Leu) c.2521A>C (p.Met841Leu) c.739A>C (p.Met247Leu) c.2329A>C (p.Met777Leu) c.2053A>C (p.Met685Leu) c.2317A>C (p.Met773Leu) c.2515A>C (p.Met839Leu) c.2920A>C (p.Met974Leu) | gnomAD v4 |
15 | g.22903875T= | CA2163978146 | CYFIP1 | c.2413A= (p.Met805=) c.2419A= (p.Met807=) c.1126A= (p.Met376=) n.812A= n.1566A= c.2818A= (p.Met940=) c.2521A= (p.Met841=) c.739A= (p.Met247=) c.2329A= (p.Met777=) c.2053A= (p.Met685=) c.2317A= (p.Met773=) c.2515A= (p.Met839=) c.2920A= (p.Met974=) | |
15 | g.22903876G>A | CA488526512 | CYFIP1 | c.2412C>T (p.Arg804=) c.2418C>T (p.Arg806=) c.1125C>T (p.Arg375=) n.811C>T n.1565C>T c.2817C>T (p.Arg939=) c.2520C>T (p.Arg840=) c.738C>T (p.Arg246=) c.2328C>T (p.Arg776=) c.2052C>T (p.Arg684=) c.2316C>T (p.Arg772=) c.2514C>T (p.Arg838=) c.2919C>T (p.Arg973=) | dbSNP gnomAD v4 |
15 | g.22903876G>C | CA488526510 | CYFIP1 | c.2412C>G (p.Arg804=) c.2418C>G (p.Arg806=) c.1125C>G (p.Arg375=) n.811C>G n.1565C>G c.2817C>G (p.Arg939=) c.2520C>G (p.Arg840=) c.738C>G (p.Arg246=) c.2328C>G (p.Arg776=) c.2052C>G (p.Arg684=) c.2316C>G (p.Arg772=) c.2514C>G (p.Arg838=) c.2919C>G (p.Arg973=) | |
15 | g.22903876G>T | CA488526511 | CYFIP1 | c.2412C>A (p.Arg804=) c.2418C>A (p.Arg806=) c.1125C>A (p.Arg375=) n.811C>A n.1565C>A c.2817C>A (p.Arg939=) c.2520C>A (p.Arg840=) c.738C>A (p.Arg246=) c.2328C>A (p.Arg776=) c.2052C>A (p.Arg684=) c.2316C>A (p.Arg772=) c.2514C>A (p.Arg838=) c.2919C>A (p.Arg973=) | |
15 | g.22903877C>A | CA267616633 | CYFIP1 | c.2411G>T (p.Arg804Leu) c.2417G>T (p.Arg806Leu) c.1124G>T (p.Arg375Leu) n.810G>T n.1564G>T c.2816G>T (p.Arg939Leu) c.2519G>T (p.Arg840Leu) c.737G>T (p.Arg246Leu) c.2327G>T (p.Arg776Leu) c.2051G>T (p.Arg684Leu) c.2315G>T (p.Arg772Leu) c.2513G>T (p.Arg838Leu) c.2918G>T (p.Arg973Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903877C= | CA2163978149 | CYFIP1 | c.2411G= (p.Arg804=) c.2417G= (p.Arg806=) c.1124G= (p.Arg375=) n.810G= n.1564G= c.2816G= (p.Arg939=) c.2519G= (p.Arg840=) c.737G= (p.Arg246=) c.2327G= (p.Arg776=) c.2051G= (p.Arg684=) c.2315G= (p.Arg772=) c.2513G= (p.Arg838=) c.2918G= (p.Arg973=) | |
15 | g.22903877C>G | CA391334799 | CYFIP1 | c.2411G>C (p.Arg804Pro) c.2417G>C (p.Arg806Pro) c.1124G>C (p.Arg375Pro) n.810G>C n.1564G>C c.2816G>C (p.Arg939Pro) c.2519G>C (p.Arg840Pro) c.737G>C (p.Arg246Pro) c.2327G>C (p.Arg776Pro) c.2051G>C (p.Arg684Pro) c.2315G>C (p.Arg772Pro) c.2513G>C (p.Arg838Pro) c.2918G>C (p.Arg973Pro) | |
15 | g.22903877C>T | CA7425094 | CYFIP1 | c.2411G>A (p.Arg804His) c.2417G>A (p.Arg806His) c.1124G>A (p.Arg375His) n.810G>A n.1564G>A c.2816G>A (p.Arg939His) c.2519G>A (p.Arg840His) c.737G>A (p.Arg246His) c.2327G>A (p.Arg776His) c.2051G>A (p.Arg684His) c.2315G>A (p.Arg772His) c.2513G>A (p.Arg838His) c.2918G>A (p.Arg973His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903878G>A | CA7425093 | CYFIP1 | c.2410C>T (p.Arg804Cys) c.2416C>T (p.Arg806Cys) c.1123C>T (p.Arg375Cys) n.809C>T n.1563C>T c.2815C>T (p.Arg939Cys) c.2518C>T (p.Arg840Cys) c.736C>T (p.Arg246Cys) c.2326C>T (p.Arg776Cys) c.2050C>T (p.Arg684Cys) c.2314C>T (p.Arg772Cys) c.2512C>T (p.Arg838Cys) c.2917C>T (p.Arg973Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903878G>C | CA391334802 | CYFIP1 | c.2410C>G (p.Arg804Gly) c.2416C>G (p.Arg806Gly) c.1123C>G (p.Arg375Gly) n.809C>G n.1563C>G c.2815C>G (p.Arg939Gly) c.2518C>G (p.Arg840Gly) c.736C>G (p.Arg246Gly) c.2326C>G (p.Arg776Gly) c.2050C>G (p.Arg684Gly) c.2314C>G (p.Arg772Gly) c.2512C>G (p.Arg838Gly) c.2917C>G (p.Arg973Gly) | |
15 | g.22903878G= | CA2163978151 | CYFIP1 | c.2410C= (p.Arg804=) c.2416C= (p.Arg806=) c.1123C= (p.Arg375=) n.809C= n.1563C= c.2815C= (p.Arg939=) c.2518C= (p.Arg840=) c.736C= (p.Arg246=) c.2326C= (p.Arg776=) c.2050C= (p.Arg684=) c.2314C= (p.Arg772=) c.2512C= (p.Arg838=) c.2917C= (p.Arg973=) | |
15 | g.22903878G>T | CA391334804 | CYFIP1 | c.2410C>A (p.Arg804Ser) c.2416C>A (p.Arg806Ser) c.1123C>A (p.Arg375Ser) n.809C>A n.1563C>A c.2815C>A (p.Arg939Ser) c.2518C>A (p.Arg840Ser) c.736C>A (p.Arg246Ser) c.2326C>A (p.Arg776Ser) c.2050C>A (p.Arg684Ser) c.2314C>A (p.Arg772Ser) c.2512C>A (p.Arg838Ser) c.2917C>A (p.Arg973Ser) | |
15 | g.22903879G>A | CA7425092 | CYFIP1 | c.2409C>T (p.Asn803=) c.2415C>T (p.Asn805=) c.1122C>T (p.Asn374=) n.808C>T n.1562C>T c.2814C>T (p.Asn938=) c.2517C>T (p.Asn839=) c.735C>T (p.Asn245=) c.2325C>T (p.Asn775=) c.2049C>T (p.Asn683=) c.2313C>T (p.Asn771=) c.2511C>T (p.Asn837=) c.2916C>T (p.Asn972=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.22903879G>C | CA391334806 | CYFIP1 | c.2409C>G (p.Asn803Lys) c.2415C>G (p.Asn805Lys) c.1122C>G (p.Asn374Lys) n.808C>G n.1562C>G c.2814C>G (p.Asn938Lys) c.2517C>G (p.Asn839Lys) c.735C>G (p.Asn245Lys) c.2325C>G (p.Asn775Lys) c.2049C>G (p.Asn683Lys) c.2313C>G (p.Asn771Lys) c.2511C>G (p.Asn837Lys) c.2916C>G (p.Asn972Lys) | |
15 | g.22903879G= | CA2163978154 | CYFIP1 | c.2409C= (p.Asn803=) c.2415C= (p.Asn805=) c.1122C= (p.Asn374=) n.808C= n.1562C= c.2814C= (p.Asn938=) c.2517C= (p.Asn839=) c.735C= (p.Asn245=) c.2325C= (p.Asn775=) c.2049C= (p.Asn683=) c.2313C= (p.Asn771=) c.2511C= (p.Asn837=) c.2916C= (p.Asn972=) | |
15 | g.22903879G>T | CA391334808 | CYFIP1 | c.2409C>A (p.Asn803Lys) c.2415C>A (p.Asn805Lys) c.1122C>A (p.Asn374Lys) n.808C>A n.1562C>A c.2814C>A (p.Asn938Lys) c.2517C>A (p.Asn839Lys) c.735C>A (p.Asn245Lys) c.2325C>A (p.Asn775Lys) c.2049C>A (p.Asn683Lys) c.2313C>A (p.Asn771Lys) c.2511C>A (p.Asn837Lys) c.2916C>A (p.Asn972Lys) | |
15 | g.22903880T>A | CA391334810 | CYFIP1 | c.2408A>T (p.Asn803Ile) c.2414A>T (p.Asn805Ile) c.1121A>T (p.Asn374Ile) n.807A>T n.1561A>T c.2813A>T (p.Asn938Ile) c.2516A>T (p.Asn839Ile) c.734A>T (p.Asn245Ile) c.2324A>T (p.Asn775Ile) c.2048A>T (p.Asn683Ile) c.2312A>T (p.Asn771Ile) c.2510A>T (p.Asn837Ile) c.2915A>T (p.Asn972Ile) | |
15 | g.22903880T>C | CA7425091 | CYFIP1 | c.2408A>G (p.Asn803Ser) c.2414A>G (p.Asn805Ser) c.1121A>G (p.Asn374Ser) n.807A>G n.1561A>G c.2813A>G (p.Asn938Ser) c.2516A>G (p.Asn839Ser) c.734A>G (p.Asn245Ser) c.2324A>G (p.Asn775Ser) c.2048A>G (p.Asn683Ser) c.2312A>G (p.Asn771Ser) c.2510A>G (p.Asn837Ser) c.2915A>G (p.Asn972Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903880T>G | CA391334813 | CYFIP1 | c.2408A>C (p.Asn803Thr) c.2414A>C (p.Asn805Thr) c.1121A>C (p.Asn374Thr) n.807A>C n.1561A>C c.2813A>C (p.Asn938Thr) c.2516A>C (p.Asn839Thr) c.734A>C (p.Asn245Thr) c.2324A>C (p.Asn775Thr) c.2048A>C (p.Asn683Thr) c.2312A>C (p.Asn771Thr) c.2510A>C (p.Asn837Thr) c.2915A>C (p.Asn972Thr) | gnomAD v4 |
15 | g.22903880T= | CA2163978157 | CYFIP1 | c.2408A= (p.Asn803=) c.2414A= (p.Asn805=) c.1121A= (p.Asn374=) n.807A= n.1561A= c.2813A= (p.Asn938=) c.2516A= (p.Asn839=) c.734A= (p.Asn245=) c.2324A= (p.Asn775=) c.2048A= (p.Asn683=) c.2312A= (p.Asn771=) c.2510A= (p.Asn837=) c.2915A= (p.Asn972=) | |
15 | g.22903881T>A | CA391334815 | CYFIP1 | c.2407A>T (p.Asn803Tyr) c.2413A>T (p.Asn805Tyr) c.1120A>T (p.Asn374Tyr) n.806A>T n.1560A>T c.2812A>T (p.Asn938Tyr) c.2515A>T (p.Asn839Tyr) c.733A>T (p.Asn245Tyr) c.2323A>T (p.Asn775Tyr) c.2047A>T (p.Asn683Tyr) c.2311A>T (p.Asn771Tyr) c.2509A>T (p.Asn837Tyr) c.2914A>T (p.Asn972Tyr) | |
15 | g.22903881T>C | CA391334816 | CYFIP1 | c.2407A>G (p.Asn803Asp) c.2413A>G (p.Asn805Asp) c.1120A>G (p.Asn374Asp) n.806A>G n.1560A>G c.2812A>G (p.Asn938Asp) c.2515A>G (p.Asn839Asp) c.733A>G (p.Asn245Asp) c.2323A>G (p.Asn775Asp) c.2047A>G (p.Asn683Asp) c.2311A>G (p.Asn771Asp) c.2509A>G (p.Asn837Asp) c.2914A>G (p.Asn972Asp) | |
15 | g.22903881T>G | CA391334818 | CYFIP1 | c.2407A>C (p.Asn803His) c.2413A>C (p.Asn805His) c.1120A>C (p.Asn374His) n.806A>C n.1560A>C c.2812A>C (p.Asn938His) c.2515A>C (p.Asn839His) c.733A>C (p.Asn245His) c.2323A>C (p.Asn775His) c.2047A>C (p.Asn683His) c.2311A>C (p.Asn771His) c.2509A>C (p.Asn837His) c.2914A>C (p.Asn972His) | |
15 | g.22903882G>A | CA488526514 | CYFIP1 | c.2406C>T (p.Ile802=) c.2412C>T (p.Ile804=) c.1119C>T (p.Ile373=) n.805C>T n.1559C>T c.2811C>T (p.Ile937=) c.2514C>T (p.Ile838=) c.732C>T (p.Ile244=) c.2322C>T (p.Ile774=) c.2046C>T (p.Ile682=) c.2310C>T (p.Ile770=) c.2508C>T (p.Ile836=) c.2913C>T (p.Ile971=) | |
15 | g.22903882G>C | CA391334820 | CYFIP1 | c.2406C>G (p.Ile802Met) c.2412C>G (p.Ile804Met) c.1119C>G (p.Ile373Met) n.805C>G n.1559C>G c.2811C>G (p.Ile937Met) c.2514C>G (p.Ile838Met) c.732C>G (p.Ile244Met) c.2322C>G (p.Ile774Met) c.2046C>G (p.Ile682Met) c.2310C>G (p.Ile770Met) c.2508C>G (p.Ile836Met) c.2913C>G (p.Ile971Met) | |
15 | g.22903882G>T | CA488526513 | CYFIP1 | c.2406C>A (p.Ile802=) c.2412C>A (p.Ile804=) c.1119C>A (p.Ile373=) n.805C>A n.1559C>A c.2811C>A (p.Ile937=) c.2514C>A (p.Ile838=) c.732C>A (p.Ile244=) c.2322C>A (p.Ile774=) c.2046C>A (p.Ile682=) c.2310C>A (p.Ile770=) c.2508C>A (p.Ile836=) c.2913C>A (p.Ile971=) | |
15 | g.22903883A>C | CA391334822 | CYFIP1 | c.2405T>G (p.Ile802Ser) c.2411T>G (p.Ile804Ser) c.1118T>G (p.Ile373Ser) n.804T>G n.1558T>G c.2810T>G (p.Ile937Ser) c.2513T>G (p.Ile838Ser) c.731T>G (p.Ile244Ser) c.2321T>G (p.Ile774Ser) c.2045T>G (p.Ile682Ser) c.2309T>G (p.Ile770Ser) c.2507T>G (p.Ile836Ser) c.2912T>G (p.Ile971Ser) | |
15 | g.22903883A>G | CA391334827 | CYFIP1 | c.2405T>C (p.Ile802Thr) c.2411T>C (p.Ile804Thr) c.1118T>C (p.Ile373Thr) n.804T>C n.1558T>C c.2810T>C (p.Ile937Thr) c.2513T>C (p.Ile838Thr) c.731T>C (p.Ile244Thr) c.2321T>C (p.Ile774Thr) c.2045T>C (p.Ile682Thr) c.2309T>C (p.Ile770Thr) c.2507T>C (p.Ile836Thr) c.2912T>C (p.Ile971Thr) | |
15 | g.22903883A>T | CA391334824 | CYFIP1 | c.2405T>A (p.Ile802Asn) c.2411T>A (p.Ile804Asn) c.1118T>A (p.Ile373Asn) n.804T>A n.1558T>A c.2810T>A (p.Ile937Asn) c.2513T>A (p.Ile838Asn) c.731T>A (p.Ile244Asn) c.2321T>A (p.Ile774Asn) c.2045T>A (p.Ile682Asn) c.2309T>A (p.Ile770Asn) c.2507T>A (p.Ile836Asn) c.2912T>A (p.Ile971Asn) | |
15 | g.22903884T>A | CA391334829 | CYFIP1 | c.2404A>T (p.Ile802Phe) c.2410A>T (p.Ile804Phe) c.1117A>T (p.Ile373Phe) n.803A>T n.1557A>T c.2809A>T (p.Ile937Phe) c.2512A>T (p.Ile838Phe) c.730A>T (p.Ile244Phe) c.2320A>T (p.Ile774Phe) c.2044A>T (p.Ile682Phe) c.2308A>T (p.Ile770Phe) c.2506A>T (p.Ile836Phe) c.2911A>T (p.Ile971Phe) | |
15 | g.22903884T>C | CA391334831 | CYFIP1 | c.2404A>G (p.Ile802Val) c.2410A>G (p.Ile804Val) c.1117A>G (p.Ile373Val) n.803A>G n.1557A>G c.2809A>G (p.Ile937Val) c.2512A>G (p.Ile838Val) c.730A>G (p.Ile244Val) c.2320A>G (p.Ile774Val) c.2044A>G (p.Ile682Val) c.2308A>G (p.Ile770Val) c.2506A>G (p.Ile836Val) c.2911A>G (p.Ile971Val) | dbSNP gnomAD v4 |
15 | g.22903884T>G | CA391334832 | CYFIP1 | c.2404A>C (p.Ile802Leu) c.2410A>C (p.Ile804Leu) c.1117A>C (p.Ile373Leu) n.803A>C n.1557A>C c.2809A>C (p.Ile937Leu) c.2512A>C (p.Ile838Leu) c.730A>C (p.Ile244Leu) c.2320A>C (p.Ile774Leu) c.2044A>C (p.Ile682Leu) c.2308A>C (p.Ile770Leu) c.2506A>C (p.Ile836Leu) c.2911A>C (p.Ile971Leu) | |
15 | g.22903884T= | CA2163978159 | CYFIP1 | c.2404A= (p.Ile802=) c.2410A= (p.Ile804=) c.1117A= (p.Ile373=) n.803A= n.1557A= c.2809A= (p.Ile937=) c.2512A= (p.Ile838=) c.730A= (p.Ile244=) c.2320A= (p.Ile774=) c.2044A= (p.Ile682=) c.2308A= (p.Ile770=) c.2506A= (p.Ile836=) c.2911A= (p.Ile971=) | |
15 | g.22903885T>A | CA391334834 | CYFIP1 | c.2403A>T (p.Glu801Asp) c.2409A>T (p.Glu803Asp) c.1116A>T (p.Glu372Asp) n.802A>T n.1556A>T c.2808A>T (p.Glu936Asp) c.2511A>T (p.Glu837Asp) c.729A>T (p.Glu243Asp) c.2319A>T (p.Glu773Asp) c.2043A>T (p.Glu681Asp) c.2307A>T (p.Glu769Asp) c.2505A>T (p.Glu835Asp) c.2910A>T (p.Glu970Asp) | |
15 | g.22903885T>C | CA488526515 | CYFIP1 | c.2403A>G (p.Glu801=) c.2409A>G (p.Glu803=) c.1116A>G (p.Glu372=) n.802A>G n.1556A>G c.2808A>G (p.Glu936=) c.2511A>G (p.Glu837=) c.729A>G (p.Glu243=) c.2319A>G (p.Glu773=) c.2043A>G (p.Glu681=) c.2307A>G (p.Glu769=) c.2505A>G (p.Glu835=) c.2910A>G (p.Glu970=) | |
15 | g.22903885T>G | CA391334836 | CYFIP1 | c.2403A>C (p.Glu801Asp) c.2409A>C (p.Glu803Asp) c.1116A>C (p.Glu372Asp) n.802A>C n.1556A>C c.2808A>C (p.Glu936Asp) c.2511A>C (p.Glu837Asp) c.729A>C (p.Glu243Asp) c.2319A>C (p.Glu773Asp) c.2043A>C (p.Glu681Asp) c.2307A>C (p.Glu769Asp) c.2505A>C (p.Glu835Asp) c.2910A>C (p.Glu970Asp) | |
15 | g.22903886T>A | CA391334838 | CYFIP1 | c.2402A>T (p.Glu801Val) c.2408A>T (p.Glu803Val) c.1115A>T (p.Glu372Val) n.801A>T n.1555A>T c.2807A>T (p.Glu936Val) c.2510A>T (p.Glu837Val) c.728A>T (p.Glu243Val) c.2318A>T (p.Glu773Val) c.2042A>T (p.Glu681Val) c.2306A>T (p.Glu769Val) c.2504A>T (p.Glu835Val) c.2909A>T (p.Glu970Val) | |
15 | g.22903886T>C | CA391334840 | CYFIP1 | c.2402A>G (p.Glu801Gly) c.2408A>G (p.Glu803Gly) c.1115A>G (p.Glu372Gly) n.801A>G n.1555A>G c.2807A>G (p.Glu936Gly) c.2510A>G (p.Glu837Gly) c.728A>G (p.Glu243Gly) c.2318A>G (p.Glu773Gly) c.2042A>G (p.Glu681Gly) c.2306A>G (p.Glu769Gly) c.2504A>G (p.Glu835Gly) c.2909A>G (p.Glu970Gly) | |
15 | g.22903886T>G | CA391334842 | CYFIP1 | c.2402A>C (p.Glu801Ala) c.2408A>C (p.Glu803Ala) c.1115A>C (p.Glu372Ala) n.801A>C n.1555A>C c.2807A>C (p.Glu936Ala) c.2510A>C (p.Glu837Ala) c.728A>C (p.Glu243Ala) c.2318A>C (p.Glu773Ala) c.2042A>C (p.Glu681Ala) c.2306A>C (p.Glu769Ala) c.2504A>C (p.Glu835Ala) c.2909A>C (p.Glu970Ala) | |
15 | g.22903887C>A | CA391334844 | CYFIP1 | c.2401G>T (p.Glu801Ter) c.2407G>T (p.Glu803Ter) c.1114G>T (p.Glu372Ter) n.800G>T n.1554G>T c.2806G>T (p.Glu936Ter) c.2509G>T (p.Glu837Ter) c.727G>T (p.Glu243Ter) c.2317G>T (p.Glu773Ter) c.2041G>T (p.Glu681Ter) c.2305G>T (p.Glu769Ter) c.2503G>T (p.Glu835Ter) c.2908G>T (p.Glu970Ter) | |
15 | g.22903887C= | CA2163978163 | CYFIP1 | c.2401G= (p.Glu801=) c.2407G= (p.Glu803=) c.1114G= (p.Glu372=) n.800G= n.1554G= c.2806G= (p.Glu936=) c.2509G= (p.Glu837=) c.727G= (p.Glu243=) c.2317G= (p.Glu773=) c.2041G= (p.Glu681=) c.2305G= (p.Glu769=) c.2503G= (p.Glu835=) c.2908G= (p.Glu970=) | |
15 | g.22903887C>G | CA391334845 | CYFIP1 | c.2401G>C (p.Glu801Gln) c.2407G>C (p.Glu803Gln) c.1114G>C (p.Glu372Gln) n.800G>C n.1554G>C c.2806G>C (p.Glu936Gln) c.2509G>C (p.Glu837Gln) c.727G>C (p.Glu243Gln) c.2317G>C (p.Glu773Gln) c.2041G>C (p.Glu681Gln) c.2305G>C (p.Glu769Gln) c.2503G>C (p.Glu835Gln) c.2908G>C (p.Glu970Gln) | |
15 | g.22903887C>T | CA391334847 | CYFIP1 | c.2401G>A (p.Glu801Lys) c.2407G>A (p.Glu803Lys) c.1114G>A (p.Glu372Lys) n.800G>A n.1554G>A c.2806G>A (p.Glu936Lys) c.2509G>A (p.Glu837Lys) c.727G>A (p.Glu243Lys) c.2317G>A (p.Glu773Lys) c.2041G>A (p.Glu681Lys) c.2305G>A (p.Glu769Lys) c.2503G>A (p.Glu835Lys) c.2908G>A (p.Glu970Lys) | dbSNP gnomAD v4 |
15 | g.22903888C>A | CA391334849 | CYFIP1 | c.2400G>T (p.Leu800Phe) c.2406G>T (p.Leu802Phe) c.1113G>T (p.Leu371Phe) n.799G>T n.1553G>T c.2805G>T (p.Leu935Phe) c.2508G>T (p.Leu836Phe) c.726G>T (p.Leu242Phe) c.2316G>T (p.Leu772Phe) c.2040G>T (p.Leu680Phe) c.2304G>T (p.Leu768Phe) c.2502G>T (p.Leu834Phe) c.2907G>T (p.Leu969Phe) | |
15 | g.22903888C>G | CA391334851 | CYFIP1 | c.2400G>C (p.Leu800Phe) c.2406G>C (p.Leu802Phe) c.1113G>C (p.Leu371Phe) n.799G>C n.1553G>C c.2805G>C (p.Leu935Phe) c.2508G>C (p.Leu836Phe) c.726G>C (p.Leu242Phe) c.2316G>C (p.Leu772Phe) c.2040G>C (p.Leu680Phe) c.2304G>C (p.Leu768Phe) c.2502G>C (p.Leu834Phe) c.2907G>C (p.Leu969Phe) | |
15 | g.22903888C>T | CA488526516 | CYFIP1 | c.2400G>A (p.Leu800=) c.2406G>A (p.Leu802=) c.1113G>A (p.Leu371=) n.799G>A n.1553G>A c.2805G>A (p.Leu935=) c.2508G>A (p.Leu836=) c.726G>A (p.Leu242=) c.2316G>A (p.Leu772=) c.2040G>A (p.Leu680=) c.2304G>A (p.Leu768=) c.2502G>A (p.Leu834=) c.2907G>A (p.Leu969=) | |
15 | g.22903889A>C | CA391334853 | CYFIP1 | c.2399T>G (p.Leu800Trp) c.2405T>G (p.Leu802Trp) c.1112T>G (p.Leu371Trp) n.798T>G n.1552T>G c.2804T>G (p.Leu935Trp) c.2507T>G (p.Leu836Trp) c.725T>G (p.Leu242Trp) c.2315T>G (p.Leu772Trp) c.2039T>G (p.Leu680Trp) c.2303T>G (p.Leu768Trp) c.2501T>G (p.Leu834Trp) c.2906T>G (p.Leu969Trp) | |
15 | g.22903889A>G | CA391334857 | CYFIP1 | c.2399T>C (p.Leu800Ser) c.2405T>C (p.Leu802Ser) c.1112T>C (p.Leu371Ser) n.798T>C n.1552T>C c.2804T>C (p.Leu935Ser) c.2507T>C (p.Leu836Ser) c.725T>C (p.Leu242Ser) c.2315T>C (p.Leu772Ser) c.2039T>C (p.Leu680Ser) c.2303T>C (p.Leu768Ser) c.2501T>C (p.Leu834Ser) c.2906T>C (p.Leu969Ser) | |
15 | g.22903889A>T | CA391334855 | CYFIP1 | c.2399T>A (p.Leu800Ter) c.2405T>A (p.Leu802Ter) c.1112T>A (p.Leu371Ter) n.798T>A n.1552T>A c.2804T>A (p.Leu935Ter) c.2507T>A (p.Leu836Ter) c.725T>A (p.Leu242Ter) c.2315T>A (p.Leu772Ter) c.2039T>A (p.Leu680Ter) c.2303T>A (p.Leu768Ter) c.2501T>A (p.Leu834Ter) c.2906T>A (p.Leu969Ter) | |
15 | g.22903890A>C | CA391334858 | CYFIP1 | c.2398T>G (p.Leu800Val) c.2404T>G (p.Leu802Val) c.1111T>G (p.Leu371Val) n.797T>G n.1551T>G c.2803T>G (p.Leu935Val) c.2506T>G (p.Leu836Val) c.724T>G (p.Leu242Val) c.2314T>G (p.Leu772Val) c.2038T>G (p.Leu680Val) c.2302T>G (p.Leu768Val) c.2500T>G (p.Leu834Val) c.2905T>G (p.Leu969Val) | |
15 | g.22903890A>G | CA488526517 | CYFIP1 | c.2398T>C (p.Leu800=) c.2404T>C (p.Leu802=) c.1111T>C (p.Leu371=) n.797T>C n.1551T>C c.2803T>C (p.Leu935=) c.2506T>C (p.Leu836=) c.724T>C (p.Leu242=) c.2314T>C (p.Leu772=) c.2038T>C (p.Leu680=) c.2302T>C (p.Leu768=) c.2500T>C (p.Leu834=) c.2905T>C (p.Leu969=) | |
15 | g.22903890A>T | CA391334859 | CYFIP1 | c.2398T>A (p.Leu800Met) c.2404T>A (p.Leu802Met) c.1111T>A (p.Leu371Met) n.797T>A n.1551T>A c.2803T>A (p.Leu935Met) c.2506T>A (p.Leu836Met) c.724T>A (p.Leu242Met) c.2314T>A (p.Leu772Met) c.2038T>A (p.Leu680Met) c.2302T>A (p.Leu768Met) c.2500T>A (p.Leu834Met) c.2905T>A (p.Leu969Met) | |
15 | g.22903891C>A | CA488526518 | CYFIP1 | c.2397G>T (p.Leu799=) c.2403G>T (p.Leu801=) c.1110G>T (p.Leu370=) n.796G>T n.1550G>T c.2802G>T (p.Leu934=) c.2505G>T (p.Leu835=) c.723G>T (p.Leu241=) c.2313G>T (p.Leu771=) c.2037G>T (p.Leu679=) c.2301G>T (p.Leu767=) c.2499G>T (p.Leu833=) c.2904G>T (p.Leu968=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903891C= | CA2163978166 | CYFIP1 | c.2397G= (p.Leu799=) c.2403G= (p.Leu801=) c.1110G= (p.Leu370=) n.796G= n.1550G= c.2802G= (p.Leu934=) c.2505G= (p.Leu835=) c.723G= (p.Leu241=) c.2313G= (p.Leu771=) c.2037G= (p.Leu679=) c.2301G= (p.Leu767=) c.2499G= (p.Leu833=) c.2904G= (p.Leu968=) | |
15 | g.22903891C>G | CA488526519 | CYFIP1 | c.2397G>C (p.Leu799=) c.2403G>C (p.Leu801=) c.1110G>C (p.Leu370=) n.796G>C n.1550G>C c.2802G>C (p.Leu934=) c.2505G>C (p.Leu835=) c.723G>C (p.Leu241=) c.2313G>C (p.Leu771=) c.2037G>C (p.Leu679=) c.2301G>C (p.Leu767=) c.2499G>C (p.Leu833=) c.2904G>C (p.Leu968=) | |
15 | g.22903891C>T | CA488526520 | CYFIP1 | c.2397G>A (p.Leu799=) c.2403G>A (p.Leu801=) c.1110G>A (p.Leu370=) n.796G>A n.1550G>A c.2802G>A (p.Leu934=) c.2505G>A (p.Leu835=) c.723G>A (p.Leu241=) c.2313G>A (p.Leu771=) c.2037G>A (p.Leu679=) c.2301G>A (p.Leu767=) c.2499G>A (p.Leu833=) c.2904G>A (p.Leu968=) | |
15 | g.22903892A>C | CA391334862 | CYFIP1 | c.2396T>G (p.Leu799Arg) c.2402T>G (p.Leu801Arg) c.1109T>G (p.Leu370Arg) n.795T>G n.1549T>G c.2801T>G (p.Leu934Arg) c.2504T>G (p.Leu835Arg) c.722T>G (p.Leu241Arg) c.2312T>G (p.Leu771Arg) c.2036T>G (p.Leu679Arg) c.2300T>G (p.Leu767Arg) c.2498T>G (p.Leu833Arg) c.2903T>G (p.Leu968Arg) | |
15 | g.22903892A>G | CA391334863 | CYFIP1 | c.2396T>C (p.Leu799Pro) c.2402T>C (p.Leu801Pro) c.1109T>C (p.Leu370Pro) n.795T>C n.1549T>C c.2801T>C (p.Leu934Pro) c.2504T>C (p.Leu835Pro) c.722T>C (p.Leu241Pro) c.2312T>C (p.Leu771Pro) c.2036T>C (p.Leu679Pro) c.2300T>C (p.Leu767Pro) c.2498T>C (p.Leu833Pro) c.2903T>C (p.Leu968Pro) | |
15 | g.22903892A>T | CA391334865 | CYFIP1 | c.2396T>A (p.Leu799Gln) c.2402T>A (p.Leu801Gln) c.1109T>A (p.Leu370Gln) n.795T>A n.1549T>A c.2801T>A (p.Leu934Gln) c.2504T>A (p.Leu835Gln) c.722T>A (p.Leu241Gln) c.2312T>A (p.Leu771Gln) c.2036T>A (p.Leu679Gln) c.2300T>A (p.Leu767Gln) c.2498T>A (p.Leu833Gln) c.2903T>A (p.Leu968Gln) | |
15 | g.22903893G>A | CA488526521 | CYFIP1 | c.2395C>T (p.Leu799=) c.2401C>T (p.Leu801=) c.1108C>T (p.Leu370=) n.794C>T n.1548C>T c.2800C>T (p.Leu934=) c.2503C>T (p.Leu835=) c.721C>T (p.Leu241=) c.2311C>T (p.Leu771=) c.2035C>T (p.Leu679=) c.2299C>T (p.Leu767=) c.2497C>T (p.Leu833=) c.2902C>T (p.Leu968=) | dbSNP gnomAD v2 |
15 | g.22903893G>C | CA391334867 | CYFIP1 | c.2395C>G (p.Leu799Val) c.2401C>G (p.Leu801Val) c.1108C>G (p.Leu370Val) n.794C>G n.1548C>G c.2800C>G (p.Leu934Val) c.2503C>G (p.Leu835Val) c.721C>G (p.Leu241Val) c.2311C>G (p.Leu771Val) c.2035C>G (p.Leu679Val) c.2299C>G (p.Leu767Val) c.2497C>G (p.Leu833Val) c.2902C>G (p.Leu968Val) | |
15 | g.22903893G= | CA2163978169 | CYFIP1 | c.2395C= (p.Leu799=) c.2401C= (p.Leu801=) c.1108C= (p.Leu370=) n.794C= n.1548C= c.2800C= (p.Leu934=) c.2503C= (p.Leu835=) c.721C= (p.Leu241=) c.2311C= (p.Leu771=) c.2035C= (p.Leu679=) c.2299C= (p.Leu767=) c.2497C= (p.Leu833=) c.2902C= (p.Leu968=) | |
15 | g.22903893G>T | CA391334869 | CYFIP1 | c.2395C>A (p.Leu799Met) c.2401C>A (p.Leu801Met) c.1108C>A (p.Leu370Met) n.794C>A n.1548C>A c.2800C>A (p.Leu934Met) c.2503C>A (p.Leu835Met) c.721C>A (p.Leu241Met) c.2311C>A (p.Leu771Met) c.2035C>A (p.Leu679Met) c.2299C>A (p.Leu767Met) c.2497C>A (p.Leu833Met) c.2902C>A (p.Leu968Met) | |
15 | g.22903894G>A | CA488526524 | CYFIP1 | c.2394C>T (p.Gly798=) c.2400C>T (p.Gly800=) c.1107C>T (p.Gly369=) n.793C>T n.1547C>T c.2799C>T (p.Gly933=) c.2502C>T (p.Gly834=) c.720C>T (p.Gly240=) c.2310C>T (p.Gly770=) c.2034C>T (p.Gly678=) c.2298C>T (p.Gly766=) c.2496C>T (p.Gly832=) c.2901C>T (p.Gly967=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903894G>C | CA488526522 | CYFIP1 | c.2394C>G (p.Gly798=) c.2400C>G (p.Gly800=) c.1107C>G (p.Gly369=) n.793C>G n.1547C>G c.2799C>G (p.Gly933=) c.2502C>G (p.Gly834=) c.720C>G (p.Gly240=) c.2310C>G (p.Gly770=) c.2034C>G (p.Gly678=) c.2298C>G (p.Gly766=) c.2496C>G (p.Gly832=) c.2901C>G (p.Gly967=) | |
15 | g.22903894G= | CA2163978171 | CYFIP1 | c.2394C= (p.Gly798=) c.2400C= (p.Gly800=) c.1107C= (p.Gly369=) n.793C= n.1547C= c.2799C= (p.Gly933=) c.2502C= (p.Gly834=) c.720C= (p.Gly240=) c.2310C= (p.Gly770=) c.2034C= (p.Gly678=) c.2298C= (p.Gly766=) c.2496C= (p.Gly832=) c.2901C= (p.Gly967=) | |
15 | g.22903894G>T | CA488526523 | CYFIP1 | c.2394C>A (p.Gly798=) c.2400C>A (p.Gly800=) c.1107C>A (p.Gly369=) n.793C>A n.1547C>A c.2799C>A (p.Gly933=) c.2502C>A (p.Gly834=) c.720C>A (p.Gly240=) c.2310C>A (p.Gly770=) c.2034C>A (p.Gly678=) c.2298C>A (p.Gly766=) c.2496C>A (p.Gly832=) c.2901C>A (p.Gly967=) | |
15 | g.22903895C>A | CA391334870 | CYFIP1 | c.2393G>T (p.Gly798Val) c.2399G>T (p.Gly800Val) c.1106G>T (p.Gly369Val) n.792G>T n.1546G>T c.2798G>T (p.Gly933Val) c.2501G>T (p.Gly834Val) c.719G>T (p.Gly240Val) c.2309G>T (p.Gly770Val) c.2033G>T (p.Gly678Val) c.2297G>T (p.Gly766Val) c.2495G>T (p.Gly832Val) c.2900G>T (p.Gly967Val) | |
15 | g.22903895C>G | CA391334872 | CYFIP1 | c.2393G>C (p.Gly798Ala) c.2399G>C (p.Gly800Ala) c.1106G>C (p.Gly369Ala) n.792G>C n.1546G>C c.2798G>C (p.Gly933Ala) c.2501G>C (p.Gly834Ala) c.719G>C (p.Gly240Ala) c.2309G>C (p.Gly770Ala) c.2033G>C (p.Gly678Ala) c.2297G>C (p.Gly766Ala) c.2495G>C (p.Gly832Ala) c.2900G>C (p.Gly967Ala) | |
15 | g.22903895C>T | CA391334874 | CYFIP1 | c.2393G>A (p.Gly798Asp) c.2399G>A (p.Gly800Asp) c.1106G>A (p.Gly369Asp) n.792G>A n.1546G>A c.2798G>A (p.Gly933Asp) c.2501G>A (p.Gly834Asp) c.719G>A (p.Gly240Asp) c.2309G>A (p.Gly770Asp) c.2033G>A (p.Gly678Asp) c.2297G>A (p.Gly766Asp) c.2495G>A (p.Gly832Asp) c.2900G>A (p.Gly967Asp) | gnomAD v4 |
15 | g.22903896C>A | CA391334876 | CYFIP1 | c.2392G>T (p.Gly798Cys) c.2398G>T (p.Gly800Cys) c.1105G>T (p.Gly369Cys) n.791G>T n.1545G>T c.2797G>T (p.Gly933Cys) c.2500G>T (p.Gly834Cys) c.718G>T (p.Gly240Cys) c.2308G>T (p.Gly770Cys) c.2032G>T (p.Gly678Cys) c.2296G>T (p.Gly766Cys) c.2494G>T (p.Gly832Cys) c.2899G>T (p.Gly967Cys) | |
15 | g.22903896C= | CA2163978174 | CYFIP1 | c.2392G= (p.Gly798=) c.2398G= (p.Gly800=) c.1105G= (p.Gly369=) n.791G= n.1545G= c.2797G= (p.Gly933=) c.2500G= (p.Gly834=) c.718G= (p.Gly240=) c.2308G= (p.Gly770=) c.2032G= (p.Gly678=) c.2296G= (p.Gly766=) c.2494G= (p.Gly832=) c.2899G= (p.Gly967=) | |
15 | g.22903896C>G | CA391334879 | CYFIP1 | c.2392G>C (p.Gly798Arg) c.2398G>C (p.Gly800Arg) c.1105G>C (p.Gly369Arg) n.791G>C n.1545G>C c.2797G>C (p.Gly933Arg) c.2500G>C (p.Gly834Arg) c.718G>C (p.Gly240Arg) c.2308G>C (p.Gly770Arg) c.2032G>C (p.Gly678Arg) c.2296G>C (p.Gly766Arg) c.2494G>C (p.Gly832Arg) c.2899G>C (p.Gly967Arg) | |
15 | g.22903896C>T | CA267616651 | CYFIP1 | c.2392G>A (p.Gly798Ser) c.2398G>A (p.Gly800Ser) c.1105G>A (p.Gly369Ser) n.791G>A n.1545G>A c.2797G>A (p.Gly933Ser) c.2500G>A (p.Gly834Ser) c.718G>A (p.Gly240Ser) c.2308G>A (p.Gly770Ser) c.2032G>A (p.Gly678Ser) c.2296G>A (p.Gly766Ser) c.2494G>A (p.Gly832Ser) c.2899G>A (p.Gly967Ser) | dbSNP gnomAD v4 |