Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.22903739A>CCA391334243CYFIP1c.2549T>G (p.Leu850Arg)
c.2555T>G (p.Leu852Arg)
c.1262T>G (p.Leu421Arg)
n.1702T>G
c.2954T>G (p.Leu985Arg)
c.2657T>G (p.Leu886Arg)
c.875T>G (p.Leu292Arg)
c.2465T>G (p.Leu822Arg)
c.2189T>G (p.Leu730Arg)
c.2453T>G (p.Leu818Arg)
c.2651T>G (p.Leu884Arg)
c.3056T>G (p.Leu1019Arg)
15g.22903739A>GCA391334245CYFIP1c.2549T>C (p.Leu850Pro)
c.2555T>C (p.Leu852Pro)
c.1262T>C (p.Leu421Pro)
n.1702T>C
c.2954T>C (p.Leu985Pro)
c.2657T>C (p.Leu886Pro)
c.875T>C (p.Leu292Pro)
c.2465T>C (p.Leu822Pro)
c.2189T>C (p.Leu730Pro)
c.2453T>C (p.Leu818Pro)
c.2651T>C (p.Leu884Pro)
c.3056T>C (p.Leu1019Pro)
15g.22903739A>TCA391334247CYFIP1c.2549T>A (p.Leu850Gln)
c.2555T>A (p.Leu852Gln)
c.1262T>A (p.Leu421Gln)
n.1702T>A
c.2954T>A (p.Leu985Gln)
c.2657T>A (p.Leu886Gln)
c.875T>A (p.Leu292Gln)
c.2465T>A (p.Leu822Gln)
c.2189T>A (p.Leu730Gln)
c.2453T>A (p.Leu818Gln)
c.2651T>A (p.Leu884Gln)
c.3056T>A (p.Leu1019Gln)
15g.22903740G>ACA488526434CYFIP1c.2548C>T (p.Leu850=)
c.2554C>T (p.Leu852=)
c.1261C>T (p.Leu421=)
n.1701C>T
c.2953C>T (p.Leu985=)
c.2656C>T (p.Leu886=)
c.874C>T (p.Leu292=)
c.2464C>T (p.Leu822=)
c.2188C>T (p.Leu730=)
c.2452C>T (p.Leu818=)
c.2650C>T (p.Leu884=)
c.3055C>T (p.Leu1019=)
 gnomAD v4
15g.22903740G>CCA391334249CYFIP1c.2548C>G (p.Leu850Val)
c.2554C>G (p.Leu852Val)
c.1261C>G (p.Leu421Val)
n.1701C>G
c.2953C>G (p.Leu985Val)
c.2656C>G (p.Leu886Val)
c.874C>G (p.Leu292Val)
c.2464C>G (p.Leu822Val)
c.2188C>G (p.Leu730Val)
c.2452C>G (p.Leu818Val)
c.2650C>G (p.Leu884Val)
c.3055C>G (p.Leu1019Val)
15g.22903740G>TCA391334250CYFIP1c.2548C>A (p.Leu850Met)
c.2554C>A (p.Leu852Met)
c.1261C>A (p.Leu421Met)
n.1701C>A
c.2953C>A (p.Leu985Met)
c.2656C>A (p.Leu886Met)
c.874C>A (p.Leu292Met)
c.2464C>A (p.Leu822Met)
c.2188C>A (p.Leu730Met)
c.2452C>A (p.Leu818Met)
c.2650C>A (p.Leu884Met)
c.3055C>A (p.Leu1019Met)
15g.22903741G>ACA488526435CYFIP1c.2547C>T (p.Phe849=)
c.2553C>T (p.Phe851=)
c.1260C>T (p.Phe420=)
n.1700C>T
c.2952C>T (p.Phe984=)
c.2655C>T (p.Phe885=)
c.873C>T (p.Phe291=)
c.2463C>T (p.Phe821=)
c.2187C>T (p.Phe729=)
c.2451C>T (p.Phe817=)
c.2649C>T (p.Phe883=)
c.3054C>T (p.Phe1018=)
 dbSNP gnomAD v4
15g.22903741G>CCA391334251CYFIP1c.2547C>G (p.Phe849Leu)
c.2553C>G (p.Phe851Leu)
c.1260C>G (p.Phe420Leu)
n.1700C>G
c.2952C>G (p.Phe984Leu)
c.2655C>G (p.Phe885Leu)
c.873C>G (p.Phe291Leu)
c.2463C>G (p.Phe821Leu)
c.2187C>G (p.Phe729Leu)
c.2451C>G (p.Phe817Leu)
c.2649C>G (p.Phe883Leu)
c.3054C>G (p.Phe1018Leu)
15g.22903741G=CA2163977952CYFIP1c.2547C= (p.Phe849=)
c.2553C= (p.Phe851=)
c.1260C= (p.Phe420=)
n.1700C=
c.2952C= (p.Phe984=)
c.2655C= (p.Phe885=)
c.873C= (p.Phe291=)
c.2463C= (p.Phe821=)
c.2187C= (p.Phe729=)
c.2451C= (p.Phe817=)
c.2649C= (p.Phe883=)
c.3054C= (p.Phe1018=)
15g.22903741G>TCA391334253CYFIP1c.2547C>A (p.Phe849Leu)
c.2553C>A (p.Phe851Leu)
c.1260C>A (p.Phe420Leu)
n.1700C>A
c.2952C>A (p.Phe984Leu)
c.2655C>A (p.Phe885Leu)
c.873C>A (p.Phe291Leu)
c.2463C>A (p.Phe821Leu)
c.2187C>A (p.Phe729Leu)
c.2451C>A (p.Phe817Leu)
c.2649C>A (p.Phe883Leu)
c.3054C>A (p.Phe1018Leu)
15g.22903742A>CCA391334255CYFIP1c.2546T>G (p.Phe849Cys)
c.2552T>G (p.Phe851Cys)
c.1259T>G (p.Phe420Cys)
n.1699T>G
c.2951T>G (p.Phe984Cys)
c.2654T>G (p.Phe885Cys)
c.872T>G (p.Phe291Cys)
c.2462T>G (p.Phe821Cys)
c.2186T>G (p.Phe729Cys)
c.2450T>G (p.Phe817Cys)
c.2648T>G (p.Phe883Cys)
c.3053T>G (p.Phe1018Cys)
15g.22903742A>GCA391334257CYFIP1c.2546T>C (p.Phe849Ser)
c.2552T>C (p.Phe851Ser)
c.1259T>C (p.Phe420Ser)
n.1699T>C
c.2951T>C (p.Phe984Ser)
c.2654T>C (p.Phe885Ser)
c.872T>C (p.Phe291Ser)
c.2462T>C (p.Phe821Ser)
c.2186T>C (p.Phe729Ser)
c.2450T>C (p.Phe817Ser)
c.2648T>C (p.Phe883Ser)
c.3053T>C (p.Phe1018Ser)
15g.22903742A>TCA391334258CYFIP1c.2546T>A (p.Phe849Tyr)
c.2552T>A (p.Phe851Tyr)
c.1259T>A (p.Phe420Tyr)
n.1699T>A
c.2951T>A (p.Phe984Tyr)
c.2654T>A (p.Phe885Tyr)
c.872T>A (p.Phe291Tyr)
c.2462T>A (p.Phe821Tyr)
c.2186T>A (p.Phe729Tyr)
c.2450T>A (p.Phe817Tyr)
c.2648T>A (p.Phe883Tyr)
c.3053T>A (p.Phe1018Tyr)
15g.22903743A>CCA391334260CYFIP1c.2545T>G (p.Phe849Val)
c.2551T>G (p.Phe851Val)
c.1258T>G (p.Phe420Val)
n.1698T>G
c.2950T>G (p.Phe984Val)
c.2653T>G (p.Phe885Val)
c.871T>G (p.Phe291Val)
c.2461T>G (p.Phe821Val)
c.2185T>G (p.Phe729Val)
c.2449T>G (p.Phe817Val)
c.2647T>G (p.Phe883Val)
c.3052T>G (p.Phe1018Val)
15g.22903743A>GCA391334264CYFIP1c.2545T>C (p.Phe849Leu)
c.2551T>C (p.Phe851Leu)
c.1258T>C (p.Phe420Leu)
n.1698T>C
c.2950T>C (p.Phe984Leu)
c.2653T>C (p.Phe885Leu)
c.871T>C (p.Phe291Leu)
c.2461T>C (p.Phe821Leu)
c.2185T>C (p.Phe729Leu)
c.2449T>C (p.Phe817Leu)
c.2647T>C (p.Phe883Leu)
c.3052T>C (p.Phe1018Leu)
15g.22903743A>TCA391334262CYFIP1c.2545T>A (p.Phe849Ile)
c.2551T>A (p.Phe851Ile)
c.1258T>A (p.Phe420Ile)
n.1698T>A
c.2950T>A (p.Phe984Ile)
c.2653T>A (p.Phe885Ile)
c.871T>A (p.Phe291Ile)
c.2461T>A (p.Phe821Ile)
c.2185T>A (p.Phe729Ile)
c.2449T>A (p.Phe817Ile)
c.2647T>A (p.Phe883Ile)
c.3052T>A (p.Phe1018Ile)
15g.22903744G>ACA488526436CYFIP1c.2544C>T (p.Asp848=)
c.2550C>T (p.Asp850=)
c.1257C>T (p.Asp419=)
n.1697C>T
c.2949C>T (p.Asp983=)
c.2652C>T (p.Asp884=)
c.870C>T (p.Asp290=)
c.2460C>T (p.Asp820=)
c.2184C>T (p.Asp728=)
c.2448C>T (p.Asp816=)
c.2646C>T (p.Asp882=)
c.3051C>T (p.Asp1017=)
15g.22903744G>CCA391334266CYFIP1c.2544C>G (p.Asp848Glu)
c.2550C>G (p.Asp850Glu)
c.1257C>G (p.Asp419Glu)
n.1697C>G
c.2949C>G (p.Asp983Glu)
c.2652C>G (p.Asp884Glu)
c.870C>G (p.Asp290Glu)
c.2460C>G (p.Asp820Glu)
c.2184C>G (p.Asp728Glu)
c.2448C>G (p.Asp816Glu)
c.2646C>G (p.Asp882Glu)
c.3051C>G (p.Asp1017Glu)
15g.22903744G>TCA391334267CYFIP1c.2544C>A (p.Asp848Glu)
c.2550C>A (p.Asp850Glu)
c.1257C>A (p.Asp419Glu)
n.1697C>A
c.2949C>A (p.Asp983Glu)
c.2652C>A (p.Asp884Glu)
c.870C>A (p.Asp290Glu)
c.2460C>A (p.Asp820Glu)
c.2184C>A (p.Asp728Glu)
c.2448C>A (p.Asp816Glu)
c.2646C>A (p.Asp882Glu)
c.3051C>A (p.Asp1017Glu)
15g.22903745T>ACA391334270CYFIP1c.2543A>T (p.Asp848Val)
c.2549A>T (p.Asp850Val)
c.1256A>T (p.Asp419Val)
n.1696A>T
c.2948A>T (p.Asp983Val)
c.2651A>T (p.Asp884Val)
c.869A>T (p.Asp290Val)
c.2459A>T (p.Asp820Val)
c.2183A>T (p.Asp728Val)
c.2447A>T (p.Asp816Val)
c.2645A>T (p.Asp882Val)
c.3050A>T (p.Asp1017Val)
15g.22903745T>CCA391334271CYFIP1c.2543A>G (p.Asp848Gly)
c.2549A>G (p.Asp850Gly)
c.1256A>G (p.Asp419Gly)
n.1696A>G
c.2948A>G (p.Asp983Gly)
c.2651A>G (p.Asp884Gly)
c.869A>G (p.Asp290Gly)
c.2459A>G (p.Asp820Gly)
c.2183A>G (p.Asp728Gly)
c.2447A>G (p.Asp816Gly)
c.2645A>G (p.Asp882Gly)
c.3050A>G (p.Asp1017Gly)
15g.22903745T>GCA391334273CYFIP1c.2543A>C (p.Asp848Ala)
c.2549A>C (p.Asp850Ala)
c.1256A>C (p.Asp419Ala)
n.1696A>C
c.2948A>C (p.Asp983Ala)
c.2651A>C (p.Asp884Ala)
c.869A>C (p.Asp290Ala)
c.2459A>C (p.Asp820Ala)
c.2183A>C (p.Asp728Ala)
c.2447A>C (p.Asp816Ala)
c.2645A>C (p.Asp882Ala)
c.3050A>C (p.Asp1017Ala)
15g.22903746C>ACA391334275CYFIP1c.2542G>T (p.Asp848Tyr)
c.2548G>T (p.Asp850Tyr)
c.1255G>T (p.Asp419Tyr)
n.1695G>T
c.2947G>T (p.Asp983Tyr)
c.2650G>T (p.Asp884Tyr)
c.868G>T (p.Asp290Tyr)
c.2458G>T (p.Asp820Tyr)
c.2182G>T (p.Asp728Tyr)
c.2446G>T (p.Asp816Tyr)
c.2644G>T (p.Asp882Tyr)
c.3049G>T (p.Asp1017Tyr)
15g.22903746C>GCA391334277CYFIP1c.2542G>C (p.Asp848His)
c.2548G>C (p.Asp850His)
c.1255G>C (p.Asp419His)
n.1695G>C
c.2947G>C (p.Asp983His)
c.2650G>C (p.Asp884His)
c.868G>C (p.Asp290His)
c.2458G>C (p.Asp820His)
c.2182G>C (p.Asp728His)
c.2446G>C (p.Asp816His)
c.2644G>C (p.Asp882His)
c.3049G>C (p.Asp1017His)
15g.22903746C>TCA391334278CYFIP1c.2542G>A (p.Asp848Asn)
c.2548G>A (p.Asp850Asn)
c.1255G>A (p.Asp419Asn)
n.1695G>A
c.2947G>A (p.Asp983Asn)
c.2650G>A (p.Asp884Asn)
c.868G>A (p.Asp290Asn)
c.2458G>A (p.Asp820Asn)
c.2182G>A (p.Asp728Asn)
c.2446G>A (p.Asp816Asn)
c.2644G>A (p.Asp882Asn)
c.3049G>A (p.Asp1017Asn)
15g.22903747A>CCA391334281CYFIP1c.2541T>G (p.Tyr847Ter)
c.2547T>G (p.Tyr849Ter)
c.1254T>G (p.Tyr418Ter)
n.1694T>G
c.2946T>G (p.Tyr982Ter)
c.2649T>G (p.Tyr883Ter)
c.867T>G (p.Tyr289Ter)
c.2457T>G (p.Tyr819Ter)
c.2181T>G (p.Tyr727Ter)
c.2445T>G (p.Tyr815Ter)
c.2643T>G (p.Tyr881Ter)
c.3048T>G (p.Tyr1016Ter)
15g.22903747A>GCA488526437CYFIP1c.2541T>C (p.Tyr847=)
c.2547T>C (p.Tyr849=)
c.1254T>C (p.Tyr418=)
n.1694T>C
c.2946T>C (p.Tyr982=)
c.2649T>C (p.Tyr883=)
c.867T>C (p.Tyr289=)
c.2457T>C (p.Tyr819=)
c.2181T>C (p.Tyr727=)
c.2445T>C (p.Tyr815=)
c.2643T>C (p.Tyr881=)
c.3048T>C (p.Tyr1016=)
15g.22903747A>TCA391334282CYFIP1c.2541T>A (p.Tyr847Ter)
c.2547T>A (p.Tyr849Ter)
c.1254T>A (p.Tyr418Ter)
n.1694T>A
c.2946T>A (p.Tyr982Ter)
c.2649T>A (p.Tyr883Ter)
c.867T>A (p.Tyr289Ter)
c.2457T>A (p.Tyr819Ter)
c.2181T>A (p.Tyr727Ter)
c.2445T>A (p.Tyr815Ter)
c.2643T>A (p.Tyr881Ter)
c.3048T>A (p.Tyr1016Ter)
15g.22903748T>ACA391334284CYFIP1c.2540A>T (p.Tyr847Phe)
c.2546A>T (p.Tyr849Phe)
c.1253A>T (p.Tyr418Phe)
n.1693A>T
c.2945A>T (p.Tyr982Phe)
c.2648A>T (p.Tyr883Phe)
c.866A>T (p.Tyr289Phe)
c.2456A>T (p.Tyr819Phe)
c.2180A>T (p.Tyr727Phe)
c.2444A>T (p.Tyr815Phe)
c.2642A>T (p.Tyr881Phe)
c.3047A>T (p.Tyr1016Phe)
15g.22903748T>CCA391334285CYFIP1c.2540A>G (p.Tyr847Cys)
c.2546A>G (p.Tyr849Cys)
c.1253A>G (p.Tyr418Cys)
n.1693A>G
c.2945A>G (p.Tyr982Cys)
c.2648A>G (p.Tyr883Cys)
c.866A>G (p.Tyr289Cys)
c.2456A>G (p.Tyr819Cys)
c.2180A>G (p.Tyr727Cys)
c.2444A>G (p.Tyr815Cys)
c.2642A>G (p.Tyr881Cys)
c.3047A>G (p.Tyr1016Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.22903748T>GCA391334288CYFIP1c.2540A>C (p.Tyr847Ser)
c.2546A>C (p.Tyr849Ser)
c.1253A>C (p.Tyr418Ser)
n.1693A>C
c.2945A>C (p.Tyr982Ser)
c.2648A>C (p.Tyr883Ser)
c.866A>C (p.Tyr289Ser)
c.2456A>C (p.Tyr819Ser)
c.2180A>C (p.Tyr727Ser)
c.2444A>C (p.Tyr815Ser)
c.2642A>C (p.Tyr881Ser)
c.3047A>C (p.Tyr1016Ser)
15g.22903748T=CA2163977954CYFIP1c.2540A= (p.Tyr847=)
c.2546A= (p.Tyr849=)
c.1253A= (p.Tyr418=)
n.1693A=
c.2945A= (p.Tyr982=)
c.2648A= (p.Tyr883=)
c.866A= (p.Tyr289=)
c.2456A= (p.Tyr819=)
c.2180A= (p.Tyr727=)
c.2444A= (p.Tyr815=)
c.2642A= (p.Tyr881=)
c.3047A= (p.Tyr1016=)
15g.22903749A>CCA391334294CYFIP1c.2539T>G (p.Tyr847Asp)
c.2545T>G (p.Tyr849Asp)
c.1252T>G (p.Tyr418Asp)
n.1692T>G
c.2944T>G (p.Tyr982Asp)
c.2647T>G (p.Tyr883Asp)
c.865T>G (p.Tyr289Asp)
c.2455T>G (p.Tyr819Asp)
c.2179T>G (p.Tyr727Asp)
c.2443T>G (p.Tyr815Asp)
c.2641T>G (p.Tyr881Asp)
c.3046T>G (p.Tyr1016Asp)
15g.22903749A>GCA391334290CYFIP1c.2539T>C (p.Tyr847His)
c.2545T>C (p.Tyr849His)
c.1252T>C (p.Tyr418His)
n.1692T>C
c.2944T>C (p.Tyr982His)
c.2647T>C (p.Tyr883His)
c.865T>C (p.Tyr289His)
c.2455T>C (p.Tyr819His)
c.2179T>C (p.Tyr727His)
c.2443T>C (p.Tyr815His)
c.2641T>C (p.Tyr881His)
c.3046T>C (p.Tyr1016His)
15g.22903749A>TCA391334291CYFIP1c.2539T>A (p.Tyr847Asn)
c.2545T>A (p.Tyr849Asn)
c.1252T>A (p.Tyr418Asn)
n.1692T>A
c.2944T>A (p.Tyr982Asn)
c.2647T>A (p.Tyr883Asn)
c.865T>A (p.Tyr289Asn)
c.2455T>A (p.Tyr819Asn)
c.2179T>A (p.Tyr727Asn)
c.2443T>A (p.Tyr815Asn)
c.2641T>A (p.Tyr881Asn)
c.3046T>A (p.Tyr1016Asn)
15g.22903750G>ACA488526438CYFIP1c.2538C>T (p.Asn846=)
c.2544C>T (p.Asn848=)
c.1251C>T (p.Asn417=)
n.1691C>T
c.2943C>T (p.Asn981=)
c.2646C>T (p.Asn882=)
c.864C>T (p.Asn288=)
c.2454C>T (p.Asn818=)
c.2178C>T (p.Asn726=)
c.2442C>T (p.Asn814=)
c.2640C>T (p.Asn880=)
c.3045C>T (p.Asn1015=)
15g.22903750G>CCA391334296CYFIP1c.2538C>G (p.Asn846Lys)
c.2544C>G (p.Asn848Lys)
c.1251C>G (p.Asn417Lys)
n.1691C>G
c.2943C>G (p.Asn981Lys)
c.2646C>G (p.Asn882Lys)
c.864C>G (p.Asn288Lys)
c.2454C>G (p.Asn818Lys)
c.2178C>G (p.Asn726Lys)
c.2442C>G (p.Asn814Lys)
c.2640C>G (p.Asn880Lys)
c.3045C>G (p.Asn1015Lys)
15g.22903750G>TCA391334297CYFIP1c.2538C>A (p.Asn846Lys)
c.2544C>A (p.Asn848Lys)
c.1251C>A (p.Asn417Lys)
n.1691C>A
c.2943C>A (p.Asn981Lys)
c.2646C>A (p.Asn882Lys)
c.864C>A (p.Asn288Lys)
c.2454C>A (p.Asn818Lys)
c.2178C>A (p.Asn726Lys)
c.2442C>A (p.Asn814Lys)
c.2640C>A (p.Asn880Lys)
c.3045C>A (p.Asn1015Lys)
15g.22903751T>ACA391334299CYFIP1c.2537A>T (p.Asn846Ile)
c.2543A>T (p.Asn848Ile)
c.1250A>T (p.Asn417Ile)
n.1690A>T
c.2942A>T (p.Asn981Ile)
c.2645A>T (p.Asn882Ile)
c.863A>T (p.Asn288Ile)
c.2453A>T (p.Asn818Ile)
c.2177A>T (p.Asn726Ile)
c.2441A>T (p.Asn814Ile)
c.2639A>T (p.Asn880Ile)
c.3044A>T (p.Asn1015Ile)
15g.22903751T>CCA391334300CYFIP1c.2537A>G (p.Asn846Ser)
c.2543A>G (p.Asn848Ser)
c.1250A>G (p.Asn417Ser)
n.1690A>G
c.2942A>G (p.Asn981Ser)
c.2645A>G (p.Asn882Ser)
c.863A>G (p.Asn288Ser)
c.2453A>G (p.Asn818Ser)
c.2177A>G (p.Asn726Ser)
c.2441A>G (p.Asn814Ser)
c.2639A>G (p.Asn880Ser)
c.3044A>G (p.Asn1015Ser)
 gnomAD v4
15g.22903751T>GCA391334301CYFIP1c.2537A>C (p.Asn846Thr)
c.2543A>C (p.Asn848Thr)
c.1250A>C (p.Asn417Thr)
n.1690A>C
c.2942A>C (p.Asn981Thr)
c.2645A>C (p.Asn882Thr)
c.863A>C (p.Asn288Thr)
c.2453A>C (p.Asn818Thr)
c.2177A>C (p.Asn726Thr)
c.2441A>C (p.Asn814Thr)
c.2639A>C (p.Asn880Thr)
c.3044A>C (p.Asn1015Thr)
15g.22903752T>ACA391334302CYFIP1c.2536A>T (p.Asn846Tyr)
c.2542A>T (p.Asn848Tyr)
c.1249A>T (p.Asn417Tyr)
n.1689A>T
c.2941A>T (p.Asn981Tyr)
c.2644A>T (p.Asn882Tyr)
c.862A>T (p.Asn288Tyr)
c.2452A>T (p.Asn818Tyr)
c.2176A>T (p.Asn726Tyr)
c.2440A>T (p.Asn814Tyr)
c.2638A>T (p.Asn880Tyr)
c.3043A>T (p.Asn1015Tyr)
15g.22903752T>CCA391334304CYFIP1c.2536A>G (p.Asn846Asp)
c.2542A>G (p.Asn848Asp)
c.1249A>G (p.Asn417Asp)
n.1689A>G
c.2941A>G (p.Asn981Asp)
c.2644A>G (p.Asn882Asp)
c.862A>G (p.Asn288Asp)
c.2452A>G (p.Asn818Asp)
c.2176A>G (p.Asn726Asp)
c.2440A>G (p.Asn814Asp)
c.2638A>G (p.Asn880Asp)
c.3043A>G (p.Asn1015Asp)
15g.22903752T>GCA391334305CYFIP1c.2536A>C (p.Asn846His)
c.2542A>C (p.Asn848His)
c.1249A>C (p.Asn417His)
n.1689A>C
c.2941A>C (p.Asn981His)
c.2644A>C (p.Asn882His)
c.862A>C (p.Asn288His)
c.2452A>C (p.Asn818His)
c.2176A>C (p.Asn726His)
c.2440A>C (p.Asn814His)
c.2638A>C (p.Asn880His)
c.3043A>C (p.Asn1015His)
15g.22903753G>ACA488526440CYFIP1c.2535C>T (p.Leu845=)
c.2541C>T (p.Leu847=)
c.1248C>T (p.Leu416=)
n.1688C>T
c.2940C>T (p.Leu980=)
c.2643C>T (p.Leu881=)
c.861C>T (p.Leu287=)
c.2451C>T (p.Leu817=)
c.2175C>T (p.Leu725=)
c.2439C>T (p.Leu813=)
c.2637C>T (p.Leu879=)
c.3042C>T (p.Leu1014=)
15g.22903753G>CCA488526441CYFIP1c.2535C>G (p.Leu845=)
c.2541C>G (p.Leu847=)
c.1248C>G (p.Leu416=)
n.1688C>G
c.2940C>G (p.Leu980=)
c.2643C>G (p.Leu881=)
c.861C>G (p.Leu287=)
c.2451C>G (p.Leu817=)
c.2175C>G (p.Leu725=)
c.2439C>G (p.Leu813=)
c.2637C>G (p.Leu879=)
c.3042C>G (p.Leu1014=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.22903753G=CA2163977958CYFIP1c.2535C= (p.Leu845=)
c.2541C= (p.Leu847=)
c.1248C= (p.Leu416=)
n.1688C=
c.2940C= (p.Leu980=)
c.2643C= (p.Leu881=)
c.861C= (p.Leu287=)
c.2451C= (p.Leu817=)
c.2175C= (p.Leu725=)
c.2439C= (p.Leu813=)
c.2637C= (p.Leu879=)
c.3042C= (p.Leu1014=)
15g.22903753G>TCA488526439CYFIP1c.2535C>A (p.Leu845=)
c.2541C>A (p.Leu847=)
c.1248C>A (p.Leu416=)
n.1688C>A
c.2940C>A (p.Leu980=)
c.2643C>A (p.Leu881=)
c.861C>A (p.Leu287=)
c.2451C>A (p.Leu817=)
c.2175C>A (p.Leu725=)
c.2439C>A (p.Leu813=)
c.2637C>A (p.Leu879=)
c.3042C>A (p.Leu1014=)
15g.22903754A>CCA391334308CYFIP1c.2534T>G (p.Leu845Arg)
c.2540T>G (p.Leu847Arg)
c.1247T>G (p.Leu416Arg)
n.1687T>G
c.2939T>G (p.Leu980Arg)
c.2642T>G (p.Leu881Arg)
c.860T>G (p.Leu287Arg)
c.2450T>G (p.Leu817Arg)
c.2174T>G (p.Leu725Arg)
c.2438T>G (p.Leu813Arg)
c.2636T>G (p.Leu879Arg)
c.3041T>G (p.Leu1014Arg)
15g.22903754A>GCA391334310CYFIP1c.2534T>C (p.Leu845Pro)
c.2540T>C (p.Leu847Pro)
c.1247T>C (p.Leu416Pro)
n.1687T>C
c.2939T>C (p.Leu980Pro)
c.2642T>C (p.Leu881Pro)
c.860T>C (p.Leu287Pro)
c.2450T>C (p.Leu817Pro)
c.2174T>C (p.Leu725Pro)
c.2438T>C (p.Leu813Pro)
c.2636T>C (p.Leu879Pro)
c.3041T>C (p.Leu1014Pro)
 gnomAD v4
15g.22903754A>TCA391334311CYFIP1c.2534T>A (p.Leu845His)
c.2540T>A (p.Leu847His)
c.1247T>A (p.Leu416His)
n.1687T>A
c.2939T>A (p.Leu980His)
c.2642T>A (p.Leu881His)
c.860T>A (p.Leu287His)
c.2450T>A (p.Leu817His)
c.2174T>A (p.Leu725His)
c.2438T>A (p.Leu813His)
c.2636T>A (p.Leu879His)
c.3041T>A (p.Leu1014His)
15g.22903755G>ACA391334315CYFIP1c.2533C>T (p.Leu845Phe)
c.2539C>T (p.Leu847Phe)
c.1246C>T (p.Leu416Phe)
n.1686C>T
c.2938C>T (p.Leu980Phe)
c.2641C>T (p.Leu881Phe)
c.859C>T (p.Leu287Phe)
c.2449C>T (p.Leu817Phe)
c.2173C>T (p.Leu725Phe)
c.2437C>T (p.Leu813Phe)
c.2635C>T (p.Leu879Phe)
c.3040C>T (p.Leu1014Phe)
 dbSNP gnomAD v3 gnomAD v4
15g.22903755G>CCA391334314CYFIP1c.2533C>G (p.Leu845Val)
c.2539C>G (p.Leu847Val)
c.1246C>G (p.Leu416Val)
n.1686C>G
c.2938C>G (p.Leu980Val)
c.2641C>G (p.Leu881Val)
c.859C>G (p.Leu287Val)
c.2449C>G (p.Leu817Val)
c.2173C>G (p.Leu725Val)
c.2437C>G (p.Leu813Val)
c.2635C>G (p.Leu879Val)
c.3040C>G (p.Leu1014Val)
15g.22903755G=CA2163977962CYFIP1c.2533C= (p.Leu845=)
c.2539C= (p.Leu847=)
c.1246C= (p.Leu416=)
n.1686C=
c.2938C= (p.Leu980=)
c.2641C= (p.Leu881=)
c.859C= (p.Leu287=)
c.2449C= (p.Leu817=)
c.2173C= (p.Leu725=)
c.2437C= (p.Leu813=)
c.2635C= (p.Leu879=)
c.3040C= (p.Leu1014=)
15g.22903755G>TCA391334313CYFIP1c.2533C>A (p.Leu845Ile)
c.2539C>A (p.Leu847Ile)
c.1246C>A (p.Leu416Ile)
n.1686C>A
c.2938C>A (p.Leu980Ile)
c.2641C>A (p.Leu881Ile)
c.859C>A (p.Leu287Ile)
c.2449C>A (p.Leu817Ile)
c.2173C>A (p.Leu725Ile)
c.2437C>A (p.Leu813Ile)
c.2635C>A (p.Leu879Ile)
c.3040C>A (p.Leu1014Ile)
15g.22903756C>ACA391334317CYFIP1c.2532G>T (p.Glu844Asp)
c.2538G>T (p.Glu846Asp)
c.1245G>T (p.Glu415Asp)
n.1685G>T
c.2937G>T (p.Glu979Asp)
c.2640G>T (p.Glu880Asp)
c.858G>T (p.Glu286Asp)
c.2448G>T (p.Glu816Asp)
c.2172G>T (p.Glu724Asp)
c.2436G>T (p.Glu812Asp)
c.2634G>T (p.Glu878Asp)
c.3039G>T (p.Glu1013Asp)
15g.22903756C>GCA391334318CYFIP1c.2532G>C (p.Glu844Asp)
c.2538G>C (p.Glu846Asp)
c.1245G>C (p.Glu415Asp)
n.1685G>C
c.2937G>C (p.Glu979Asp)
c.2640G>C (p.Glu880Asp)
c.858G>C (p.Glu286Asp)
c.2448G>C (p.Glu816Asp)
c.2172G>C (p.Glu724Asp)
c.2436G>C (p.Glu812Asp)
c.2634G>C (p.Glu878Asp)
c.3039G>C (p.Glu1013Asp)
15g.22903756C>TCA488526442CYFIP1c.2532G>A (p.Glu844=)
c.2538G>A (p.Glu846=)
c.1245G>A (p.Glu415=)
n.1685G>A
c.2937G>A (p.Glu979=)
c.2640G>A (p.Glu880=)
c.858G>A (p.Glu286=)
c.2448G>A (p.Glu816=)
c.2172G>A (p.Glu724=)
c.2436G>A (p.Glu812=)
c.2634G>A (p.Glu878=)
c.3039G>A (p.Glu1013=)
15g.22903757T>ACA391334320CYFIP1c.2531A>T (p.Glu844Val)
c.2537A>T (p.Glu846Val)
c.1244A>T (p.Glu415Val)
n.1684A>T
c.2936A>T (p.Glu979Val)
c.2639A>T (p.Glu880Val)
c.857A>T (p.Glu286Val)
c.2447A>T (p.Glu816Val)
c.2171A>T (p.Glu724Val)
c.2435A>T (p.Glu812Val)
c.2633A>T (p.Glu878Val)
c.3038A>T (p.Glu1013Val)
15g.22903757T>CCA391334324CYFIP1c.2531A>G (p.Glu844Gly)
c.2537A>G (p.Glu846Gly)
c.1244A>G (p.Glu415Gly)
n.1684A>G
c.2936A>G (p.Glu979Gly)
c.2639A>G (p.Glu880Gly)
c.857A>G (p.Glu286Gly)
c.2447A>G (p.Glu816Gly)
c.2171A>G (p.Glu724Gly)
c.2435A>G (p.Glu812Gly)
c.2633A>G (p.Glu878Gly)
c.3038A>G (p.Glu1013Gly)
15g.22903757T>GCA391334322CYFIP1c.2531A>C (p.Glu844Ala)
c.2537A>C (p.Glu846Ala)
c.1244A>C (p.Glu415Ala)
n.1684A>C
c.2936A>C (p.Glu979Ala)
c.2639A>C (p.Glu880Ala)
c.857A>C (p.Glu286Ala)
c.2447A>C (p.Glu816Ala)
c.2171A>C (p.Glu724Ala)
c.2435A>C (p.Glu812Ala)
c.2633A>C (p.Glu878Ala)
c.3038A>C (p.Glu1013Ala)
15g.22903758C>ACA391334327CYFIP1c.2530G>T (p.Glu844Ter)
c.2536G>T (p.Glu846Ter)
c.1243G>T (p.Glu415Ter)
n.929G>T
n.1683G>T
c.2935G>T (p.Glu979Ter)
c.2638G>T (p.Glu880Ter)
c.856G>T (p.Glu286Ter)
c.2446G>T (p.Glu816Ter)
c.2170G>T (p.Glu724Ter)
c.2434G>T (p.Glu812Ter)
c.2632G>T (p.Glu878Ter)
c.3037G>T (p.Glu1013Ter)
15g.22903758C>GCA391334329CYFIP1c.2530G>C (p.Glu844Gln)
c.2536G>C (p.Glu846Gln)
c.1243G>C (p.Glu415Gln)
n.929G>C
n.1683G>C
c.2935G>C (p.Glu979Gln)
c.2638G>C (p.Glu880Gln)
c.856G>C (p.Glu286Gln)
c.2446G>C (p.Glu816Gln)
c.2170G>C (p.Glu724Gln)
c.2434G>C (p.Glu812Gln)
c.2632G>C (p.Glu878Gln)
c.3037G>C (p.Glu1013Gln)
15g.22903758C>TCA391334328CYFIP1c.2530G>A (p.Glu844Lys)
c.2536G>A (p.Glu846Lys)
c.1243G>A (p.Glu415Lys)
n.929G>A
n.1683G>A
c.2935G>A (p.Glu979Lys)
c.2638G>A (p.Glu880Lys)
c.856G>A (p.Glu286Lys)
c.2446G>A (p.Glu816Lys)
c.2170G>A (p.Glu724Lys)
c.2434G>A (p.Glu812Lys)
c.2632G>A (p.Glu878Lys)
c.3037G>A (p.Glu1013Lys)
15g.22903759C>ACA391334331CYFIP1c.2529G>T (p.Trp843Cys)
c.2535G>T (p.Trp845Cys)
c.1242G>T (p.Trp414Cys)
n.928G>T
n.1682G>T
c.2934G>T (p.Trp978Cys)
c.2637G>T (p.Trp879Cys)
c.855G>T (p.Trp285Cys)
c.2445G>T (p.Trp815Cys)
c.2169G>T (p.Trp723Cys)
c.2433G>T (p.Trp811Cys)
c.2631G>T (p.Trp877Cys)
c.3036G>T (p.Trp1012Cys)
15g.22903759C>GCA391334333CYFIP1c.2529G>C (p.Trp843Cys)
c.2535G>C (p.Trp845Cys)
c.1242G>C (p.Trp414Cys)
n.928G>C
n.1682G>C
c.2934G>C (p.Trp978Cys)
c.2637G>C (p.Trp879Cys)
c.855G>C (p.Trp285Cys)
c.2445G>C (p.Trp815Cys)
c.2169G>C (p.Trp723Cys)
c.2433G>C (p.Trp811Cys)
c.2631G>C (p.Trp877Cys)
c.3036G>C (p.Trp1012Cys)
15g.22903759C>TCA391334335CYFIP1c.2529G>A (p.Trp843Ter)
c.2535G>A (p.Trp845Ter)
c.1242G>A (p.Trp414Ter)
n.928G>A
n.1682G>A
c.2934G>A (p.Trp978Ter)
c.2637G>A (p.Trp879Ter)
c.855G>A (p.Trp285Ter)
c.2445G>A (p.Trp815Ter)
c.2169G>A (p.Trp723Ter)
c.2433G>A (p.Trp811Ter)
c.2631G>A (p.Trp877Ter)
c.3036G>A (p.Trp1012Ter)
15g.22903760C>ACA391334337CYFIP1c.2528G>T (p.Trp843Leu)
c.2534G>T (p.Trp845Leu)
c.1241G>T (p.Trp414Leu)
n.927G>T
n.1681G>T
c.2933G>T (p.Trp978Leu)
c.2636G>T (p.Trp879Leu)
c.854G>T (p.Trp285Leu)
c.2444G>T (p.Trp815Leu)
c.2168G>T (p.Trp723Leu)
c.2432G>T (p.Trp811Leu)
c.2630G>T (p.Trp877Leu)
c.3035G>T (p.Trp1012Leu)
15g.22903760C>GCA391334340CYFIP1c.2528G>C (p.Trp843Ser)
c.2534G>C (p.Trp845Ser)
c.1241G>C (p.Trp414Ser)
n.927G>C
n.1681G>C
c.2933G>C (p.Trp978Ser)
c.2636G>C (p.Trp879Ser)
c.854G>C (p.Trp285Ser)
c.2444G>C (p.Trp815Ser)
c.2168G>C (p.Trp723Ser)
c.2432G>C (p.Trp811Ser)
c.2630G>C (p.Trp877Ser)
c.3035G>C (p.Trp1012Ser)
15g.22903760C>TCA391334341CYFIP1c.2528G>A (p.Trp843Ter)
c.2534G>A (p.Trp845Ter)
c.1241G>A (p.Trp414Ter)
n.927G>A
n.1681G>A
c.2933G>A (p.Trp978Ter)
c.2636G>A (p.Trp879Ter)
c.854G>A (p.Trp285Ter)
c.2444G>A (p.Trp815Ter)
c.2168G>A (p.Trp723Ter)
c.2432G>A (p.Trp811Ter)
c.2630G>A (p.Trp877Ter)
c.3035G>A (p.Trp1012Ter)
15g.22903760_22903763delinsCAGACA2163977965CYFIP1c.2525_2528delinsTCTG (p.Phe842=)
c.2531_2534delinsTCTG (p.Phe844=)
c.1238_1241delinsTCTG (p.Phe413=)
n.924_927delinsTCTG
n.1678_1681delinsTCTG
c.2930_2933delinsTCTG (p.Phe977=)
c.2633_2636delinsTCTG (p.Phe878=)
c.851_854delinsTCTG (p.Phe284=)
c.2441_2444delinsTCTG (p.Phe814=)
c.2165_2168delinsTCTG (p.Phe722=)
c.2429_2432delinsTCTG (p.Phe810=)
c.2627_2630delinsTCTG (p.Phe876=)
c.3032_3035delinsTCTG (p.Phe1011=)
15g.22903761A>CCA391334343CYFIP1c.2527T>G (p.Trp843Gly)
c.2533T>G (p.Trp845Gly)
c.1240T>G (p.Trp414Gly)
n.926T>G
n.1680T>G
c.2932T>G (p.Trp978Gly)
c.2635T>G (p.Trp879Gly)
c.853T>G (p.Trp285Gly)
c.2443T>G (p.Trp815Gly)
c.2167T>G (p.Trp723Gly)
c.2431T>G (p.Trp811Gly)
c.2629T>G (p.Trp877Gly)
c.3034T>G (p.Trp1012Gly)
15g.22903761A>GCA391334344CYFIP1c.2527T>C (p.Trp843Arg)
c.2533T>C (p.Trp845Arg)
c.1240T>C (p.Trp414Arg)
n.926T>C
n.1680T>C
c.2932T>C (p.Trp978Arg)
c.2635T>C (p.Trp879Arg)
c.853T>C (p.Trp285Arg)
c.2443T>C (p.Trp815Arg)
c.2167T>C (p.Trp723Arg)
c.2431T>C (p.Trp811Arg)
c.2629T>C (p.Trp877Arg)
c.3034T>C (p.Trp1012Arg)
15g.22903761A>TCA391334348CYFIP1c.2527T>A (p.Trp843Arg)
c.2533T>A (p.Trp845Arg)
c.1240T>A (p.Trp414Arg)
n.926T>A
n.1680T>A
c.2932T>A (p.Trp978Arg)
c.2635T>A (p.Trp879Arg)
c.853T>A (p.Trp285Arg)
c.2443T>A (p.Trp815Arg)
c.2167T>A (p.Trp723Arg)
c.2431T>A (p.Trp811Arg)
c.2629T>A (p.Trp877Arg)
c.3034T>A (p.Trp1012Arg)
15g.22903764_22903766delCA711269907CYFIP1c.2525_2527del (p.Phe842del)
c.2531_2533del (p.Phe844del)
c.1238_1240del (p.Phe413del)
n.924_926del
n.1678_1680del
c.2930_2932del (p.Phe977del)
c.2633_2635del (p.Phe878del)
c.851_853del (p.Phe284del)
c.2441_2443del (p.Phe814del)
c.2165_2167del (p.Phe722del)
c.2429_2431del (p.Phe810del)
c.2627_2629del (p.Phe876del)
c.3032_3034del (p.Phe1011del)
 dbSNP gnomAD v3 gnomAD v4
15g.22903762G>ACA488526443CYFIP1c.2526C>T (p.Phe842=)
c.2532C>T (p.Phe844=)
c.1239C>T (p.Phe413=)
n.925C>T
n.1679C>T
c.2931C>T (p.Phe977=)
c.2634C>T (p.Phe878=)
c.852C>T (p.Phe284=)
c.2442C>T (p.Phe814=)
c.2166C>T (p.Phe722=)
c.2430C>T (p.Phe810=)
c.2628C>T (p.Phe876=)
c.3033C>T (p.Phe1011=)
15g.22903762G>CCA391334350CYFIP1c.2526C>G (p.Phe842Leu)
c.2532C>G (p.Phe844Leu)
c.1239C>G (p.Phe413Leu)
n.925C>G
n.1679C>G
c.2931C>G (p.Phe977Leu)
c.2634C>G (p.Phe878Leu)
c.852C>G (p.Phe284Leu)
c.2442C>G (p.Phe814Leu)
c.2166C>G (p.Phe722Leu)
c.2430C>G (p.Phe810Leu)
c.2628C>G (p.Phe876Leu)
c.3033C>G (p.Phe1011Leu)
15g.22903762G>TCA391334352CYFIP1c.2526C>A (p.Phe842Leu)
c.2532C>A (p.Phe844Leu)
c.1239C>A (p.Phe413Leu)
n.925C>A
n.1679C>A
c.2931C>A (p.Phe977Leu)
c.2634C>A (p.Phe878Leu)
c.852C>A (p.Phe284Leu)
c.2442C>A (p.Phe814Leu)
c.2166C>A (p.Phe722Leu)
c.2430C>A (p.Phe810Leu)
c.2628C>A (p.Phe876Leu)
c.3033C>A (p.Phe1011Leu)
15g.22903763A>CCA391334357CYFIP1c.2525T>G (p.Phe842Cys)
c.2531T>G (p.Phe844Cys)
c.1238T>G (p.Phe413Cys)
n.924T>G
n.1678T>G
c.2930T>G (p.Phe977Cys)
c.2633T>G (p.Phe878Cys)
c.851T>G (p.Phe284Cys)
c.2441T>G (p.Phe814Cys)
c.2165T>G (p.Phe722Cys)
c.2429T>G (p.Phe810Cys)
c.2627T>G (p.Phe876Cys)
c.3032T>G (p.Phe1011Cys)
15g.22903763A>GCA391334355CYFIP1c.2525T>C (p.Phe842Ser)
c.2531T>C (p.Phe844Ser)
c.1238T>C (p.Phe413Ser)
n.924T>C
n.1678T>C
c.2930T>C (p.Phe977Ser)
c.2633T>C (p.Phe878Ser)
c.851T>C (p.Phe284Ser)
c.2441T>C (p.Phe814Ser)
c.2165T>C (p.Phe722Ser)
c.2429T>C (p.Phe810Ser)
c.2627T>C (p.Phe876Ser)
c.3032T>C (p.Phe1011Ser)
15g.22903763A>TCA391334353CYFIP1c.2525T>A (p.Phe842Tyr)
c.2531T>A (p.Phe844Tyr)
c.1238T>A (p.Phe413Tyr)
n.924T>A
n.1678T>A
c.2930T>A (p.Phe977Tyr)
c.2633T>A (p.Phe878Tyr)
c.851T>A (p.Phe284Tyr)
c.2441T>A (p.Phe814Tyr)
c.2165T>A (p.Phe722Tyr)
c.2429T>A (p.Phe810Tyr)
c.2627T>A (p.Phe876Tyr)
c.3032T>A (p.Phe1011Tyr)
15g.22903764A>CCA391334359CYFIP1c.2524T>G (p.Phe842Val)
c.2530T>G (p.Phe844Val)
c.1237T>G (p.Phe413Val)
n.923T>G
n.1677T>G
c.2929T>G (p.Phe977Val)
c.2632T>G (p.Phe878Val)
c.850T>G (p.Phe284Val)
c.2440T>G (p.Phe814Val)
c.2164T>G (p.Phe722Val)
c.2428T>G (p.Phe810Val)
c.2626T>G (p.Phe876Val)
c.3031T>G (p.Phe1011Val)
15g.22903764A>GCA391334361CYFIP1c.2524T>C (p.Phe842Leu)
c.2530T>C (p.Phe844Leu)
c.1237T>C (p.Phe413Leu)
n.923T>C
n.1677T>C
c.2929T>C (p.Phe977Leu)
c.2632T>C (p.Phe878Leu)
c.850T>C (p.Phe284Leu)
c.2440T>C (p.Phe814Leu)
c.2164T>C (p.Phe722Leu)
c.2428T>C (p.Phe810Leu)
c.2626T>C (p.Phe876Leu)
c.3031T>C (p.Phe1011Leu)
15g.22903764A>TCA391334362CYFIP1c.2524T>A (p.Phe842Ile)
c.2530T>A (p.Phe844Ile)
c.1237T>A (p.Phe413Ile)
n.923T>A
n.1677T>A
c.2929T>A (p.Phe977Ile)
c.2632T>A (p.Phe878Ile)
c.850T>A (p.Phe284Ile)
c.2440T>A (p.Phe814Ile)
c.2164T>A (p.Phe722Ile)
c.2428T>A (p.Phe810Ile)
c.2626T>A (p.Phe876Ile)
c.3031T>A (p.Phe1011Ile)
15g.22903765G>ACA7425124CYFIP1c.2523C>T (p.Val841=)
c.2529C>T (p.Val843=)
c.1236C>T (p.Val412=)
n.922C>T
n.1676C>T
c.2928C>T (p.Val976=)
c.2631C>T (p.Val877=)
c.849C>T (p.Val283=)
c.2439C>T (p.Val813=)
c.2163C>T (p.Val721=)
c.2427C>T (p.Val809=)
c.2625C>T (p.Val875=)
c.3030C>T (p.Val1010=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903765G>CCA488526444CYFIP1c.2523C>G (p.Val841=)
c.2529C>G (p.Val843=)
c.1236C>G (p.Val412=)
n.922C>G
n.1676C>G
c.2928C>G (p.Val976=)
c.2631C>G (p.Val877=)
c.849C>G (p.Val283=)
c.2439C>G (p.Val813=)
c.2163C>G (p.Val721=)
c.2427C>G (p.Val809=)
c.2625C>G (p.Val875=)
c.3030C>G (p.Val1010=)
15g.22903765G=CA2163977968CYFIP1c.2523C= (p.Val841=)
c.2529C= (p.Val843=)
c.1236C= (p.Val412=)
n.922C=
n.1676C=
c.2928C= (p.Val976=)
c.2631C= (p.Val877=)
c.849C= (p.Val283=)
c.2439C= (p.Val813=)
c.2163C= (p.Val721=)
c.2427C= (p.Val809=)
c.2625C= (p.Val875=)
c.3030C= (p.Val1010=)
15g.22903765G>TCA7425123CYFIP1c.2523C>A (p.Val841=)
c.2529C>A (p.Val843=)
c.1236C>A (p.Val412=)
n.922C>A
n.1676C>A
c.2928C>A (p.Val976=)
c.2631C>A (p.Val877=)
c.849C>A (p.Val283=)
c.2439C>A (p.Val813=)
c.2163C>A (p.Val721=)
c.2427C>A (p.Val809=)
c.2625C>A (p.Val875=)
c.3030C>A (p.Val1010=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.22903766A>CCA391334366CYFIP1c.2522T>G (p.Val841Gly)
c.2528T>G (p.Val843Gly)
c.1235T>G (p.Val412Gly)
n.921T>G
n.1675T>G
c.2927T>G (p.Val976Gly)
c.2630T>G (p.Val877Gly)
c.848T>G (p.Val283Gly)
c.2438T>G (p.Val813Gly)
c.2162T>G (p.Val721Gly)
c.2426T>G (p.Val809Gly)
c.2624T>G (p.Val875Gly)
c.3029T>G (p.Val1010Gly)
15g.22903766A>GCA391334367CYFIP1c.2522T>C (p.Val841Ala)
c.2528T>C (p.Val843Ala)
c.1235T>C (p.Val412Ala)
n.921T>C
n.1675T>C
c.2927T>C (p.Val976Ala)
c.2630T>C (p.Val877Ala)
c.848T>C (p.Val283Ala)
c.2438T>C (p.Val813Ala)
c.2162T>C (p.Val721Ala)
c.2426T>C (p.Val809Ala)
c.2624T>C (p.Val875Ala)
c.3029T>C (p.Val1010Ala)
15g.22903766A>TCA391334369CYFIP1c.2522T>A (p.Val841Asp)
c.2528T>A (p.Val843Asp)
c.1235T>A (p.Val412Asp)
n.921T>A
n.1675T>A
c.2927T>A (p.Val976Asp)
c.2630T>A (p.Val877Asp)
c.848T>A (p.Val283Asp)
c.2438T>A (p.Val813Asp)
c.2162T>A (p.Val721Asp)
c.2426T>A (p.Val809Asp)
c.2624T>A (p.Val875Asp)
c.3029T>A (p.Val1010Asp)
15g.22903767C>ACA391334370CYFIP1c.2521G>T (p.Val841Phe)
c.2527G>T (p.Val843Phe)
c.1234G>T (p.Val412Phe)
n.920G>T
n.1674G>T
c.2926G>T (p.Val976Phe)
c.2629G>T (p.Val877Phe)
c.847G>T (p.Val283Phe)
c.2437G>T (p.Val813Phe)
c.2161G>T (p.Val721Phe)
c.2425G>T (p.Val809Phe)
c.2623G>T (p.Val875Phe)
c.3028G>T (p.Val1010Phe)
15g.22903767C=CA2163977971CYFIP1c.2521G= (p.Val841=)
c.2527G= (p.Val843=)
c.1234G= (p.Val412=)
n.920G=
n.1674G=
c.2926G= (p.Val976=)
c.2629G= (p.Val877=)
c.847G= (p.Val283=)
c.2437G= (p.Val813=)
c.2161G= (p.Val721=)
c.2425G= (p.Val809=)
c.2623G= (p.Val875=)
c.3028G= (p.Val1010=)
15g.22903767C>GCA391334371CYFIP1c.2521G>C (p.Val841Leu)
c.2527G>C (p.Val843Leu)
c.1234G>C (p.Val412Leu)
n.920G>C
n.1674G>C
c.2926G>C (p.Val976Leu)
c.2629G>C (p.Val877Leu)
c.847G>C (p.Val283Leu)
c.2437G>C (p.Val813Leu)
c.2161G>C (p.Val721Leu)
c.2425G>C (p.Val809Leu)
c.2623G>C (p.Val875Leu)
c.3028G>C (p.Val1010Leu)
15g.22903767C>TCA7425122CYFIP1c.2521G>A (p.Val841Ile)
c.2527G>A (p.Val843Ile)
c.1234G>A (p.Val412Ile)
n.920G>A
n.1674G>A
c.2926G>A (p.Val976Ile)
c.2629G>A (p.Val877Ile)
c.847G>A (p.Val283Ile)
c.2437G>A (p.Val813Ile)
c.2161G>A (p.Val721Ile)
c.2425G>A (p.Val809Ile)
c.2623G>A (p.Val875Ile)
c.3028G>A (p.Val1010Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903768G>ACA7425121CYFIP1c.2520C>T (p.His840=)
c.2526C>T (p.His842=)
c.1233C>T (p.His411=)
n.919C>T
n.1673C>T
c.2925C>T (p.His975=)
c.2628C>T (p.His876=)
c.846C>T (p.His282=)
c.2436C>T (p.His812=)
c.2160C>T (p.His720=)
c.2424C>T (p.His808=)
c.2622C>T (p.His874=)
c.3027C>T (p.His1009=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903768G>CCA391334375CYFIP1c.2520C>G (p.His840Gln)
c.2526C>G (p.His842Gln)
c.1233C>G (p.His411Gln)
n.919C>G
n.1673C>G
c.2925C>G (p.His975Gln)
c.2628C>G (p.His876Gln)
c.846C>G (p.His282Gln)
c.2436C>G (p.His812Gln)
c.2160C>G (p.His720Gln)
c.2424C>G (p.His808Gln)
c.2622C>G (p.His874Gln)
c.3027C>G (p.His1009Gln)
15g.22903768G=CA2163977976CYFIP1c.2520C= (p.His840=)
c.2526C= (p.His842=)
c.1233C= (p.His411=)
n.919C=
n.1673C=
c.2925C= (p.His975=)
c.2628C= (p.His876=)
c.846C= (p.His282=)
c.2436C= (p.His812=)
c.2160C= (p.His720=)
c.2424C= (p.His808=)
c.2622C= (p.His874=)
c.3027C= (p.His1009=)
15g.22903768G>TCA391334373CYFIP1c.2520C>A (p.His840Gln)
c.2526C>A (p.His842Gln)
c.1233C>A (p.His411Gln)
n.919C>A
n.1673C>A
c.2925C>A (p.His975Gln)
c.2628C>A (p.His876Gln)
c.846C>A (p.His282Gln)
c.2436C>A (p.His812Gln)
c.2160C>A (p.His720Gln)
c.2424C>A (p.His808Gln)
c.2622C>A (p.His874Gln)
c.3027C>A (p.His1009Gln)
15g.22903769T>ACA391334378CYFIP1c.2519A>T (p.His840Leu)
c.2525A>T (p.His842Leu)
c.1232A>T (p.His411Leu)
n.918A>T
n.1672A>T
c.2924A>T (p.His975Leu)
c.2627A>T (p.His876Leu)
c.845A>T (p.His282Leu)
c.2435A>T (p.His812Leu)
c.2159A>T (p.His720Leu)
c.2423A>T (p.His808Leu)
c.2621A>T (p.His874Leu)
c.3026A>T (p.His1009Leu)
15g.22903769T>CCA391334380CYFIP1c.2519A>G (p.His840Arg)
c.2525A>G (p.His842Arg)
c.1232A>G (p.His411Arg)
n.918A>G
n.1672A>G
c.2924A>G (p.His975Arg)
c.2627A>G (p.His876Arg)
c.845A>G (p.His282Arg)
c.2435A>G (p.His812Arg)
c.2159A>G (p.His720Arg)
c.2423A>G (p.His808Arg)
c.2621A>G (p.His874Arg)
c.3026A>G (p.His1009Arg)
15g.22903769T>GCA391334382CYFIP1c.2519A>C (p.His840Pro)
c.2525A>C (p.His842Pro)
c.1232A>C (p.His411Pro)
n.918A>C
n.1672A>C
c.2924A>C (p.His975Pro)
c.2627A>C (p.His876Pro)
c.845A>C (p.His282Pro)
c.2435A>C (p.His812Pro)
c.2159A>C (p.His720Pro)
c.2423A>C (p.His808Pro)
c.2621A>C (p.His874Pro)
c.3026A>C (p.His1009Pro)
15g.22903770G>ACA391334383CYFIP1c.2518C>T (p.His840Tyr)
c.2524C>T (p.His842Tyr)
c.1231C>T (p.His411Tyr)
n.917C>T
n.1671C>T
c.2923C>T (p.His975Tyr)
c.2626C>T (p.His876Tyr)
c.844C>T (p.His282Tyr)
c.2434C>T (p.His812Tyr)
c.2158C>T (p.His720Tyr)
c.2422C>T (p.His808Tyr)
c.2620C>T (p.His874Tyr)
c.3025C>T (p.His1009Tyr)
 gnomAD v4
15g.22903770G>CCA391334384CYFIP1c.2518C>G (p.His840Asp)
c.2524C>G (p.His842Asp)
c.1231C>G (p.His411Asp)
n.917C>G
n.1671C>G
c.2923C>G (p.His975Asp)
c.2626C>G (p.His876Asp)
c.844C>G (p.His282Asp)
c.2434C>G (p.His812Asp)
c.2158C>G (p.His720Asp)
c.2422C>G (p.His808Asp)
c.2620C>G (p.His874Asp)
c.3025C>G (p.His1009Asp)
15g.22903770G>TCA391334387CYFIP1c.2518C>A (p.His840Asn)
c.2524C>A (p.His842Asn)
c.1231C>A (p.His411Asn)
n.917C>A
n.1671C>A
c.2923C>A (p.His975Asn)
c.2626C>A (p.His876Asn)
c.844C>A (p.His282Asn)
c.2434C>A (p.His812Asn)
c.2158C>A (p.His720Asn)
c.2422C>A (p.His808Asn)
c.2620C>A (p.His874Asn)
c.3025C>A (p.His1009Asn)
15g.22903771C>ACA488526445CYFIP1c.2517G>T (p.Leu839=)
c.2523G>T (p.Leu841=)
c.1230G>T (p.Leu410=)
n.916G>T
n.1670G>T
c.2922G>T (p.Leu974=)
c.2625G>T (p.Leu875=)
c.843G>T (p.Leu281=)
c.2433G>T (p.Leu811=)
c.2157G>T (p.Leu719=)
c.2421G>T (p.Leu807=)
c.2619G>T (p.Leu873=)
c.3024G>T (p.Leu1008=)
15g.22903771C>GCA488526447CYFIP1c.2517G>C (p.Leu839=)
c.2523G>C (p.Leu841=)
c.1230G>C (p.Leu410=)
n.916G>C
n.1670G>C
c.2922G>C (p.Leu974=)
c.2625G>C (p.Leu875=)
c.843G>C (p.Leu281=)
c.2433G>C (p.Leu811=)
c.2157G>C (p.Leu719=)
c.2421G>C (p.Leu807=)
c.2619G>C (p.Leu873=)
c.3024G>C (p.Leu1008=)
15g.22903771C>TCA488526446CYFIP1c.2517G>A (p.Leu839=)
c.2523G>A (p.Leu841=)
c.1230G>A (p.Leu410=)
n.916G>A
n.1670G>A
c.2922G>A (p.Leu974=)
c.2625G>A (p.Leu875=)
c.843G>A (p.Leu281=)
c.2433G>A (p.Leu811=)
c.2157G>A (p.Leu719=)
c.2421G>A (p.Leu807=)
c.2619G>A (p.Leu873=)
c.3024G>A (p.Leu1008=)
 gnomAD v4
15g.22903772A>CCA391334389CYFIP1c.2516T>G (p.Leu839Arg)
c.2522T>G (p.Leu841Arg)
c.1229T>G (p.Leu410Arg)
n.915T>G
n.1669T>G
c.2921T>G (p.Leu974Arg)
c.2624T>G (p.Leu875Arg)
c.842T>G (p.Leu281Arg)
c.2432T>G (p.Leu811Arg)
c.2156T>G (p.Leu719Arg)
c.2420T>G (p.Leu807Arg)
c.2618T>G (p.Leu873Arg)
c.3023T>G (p.Leu1008Arg)
15g.22903772A>GCA391334390CYFIP1c.2516T>C (p.Leu839Pro)
c.2522T>C (p.Leu841Pro)
c.1229T>C (p.Leu410Pro)
n.915T>C
n.1669T>C
c.2921T>C (p.Leu974Pro)
c.2624T>C (p.Leu875Pro)
c.842T>C (p.Leu281Pro)
c.2432T>C (p.Leu811Pro)
c.2156T>C (p.Leu719Pro)
c.2420T>C (p.Leu807Pro)
c.2618T>C (p.Leu873Pro)
c.3023T>C (p.Leu1008Pro)
15g.22903772A>TCA391334392CYFIP1c.2516T>A (p.Leu839Gln)
c.2522T>A (p.Leu841Gln)
c.1229T>A (p.Leu410Gln)
n.915T>A
n.1669T>A
c.2921T>A (p.Leu974Gln)
c.2624T>A (p.Leu875Gln)
c.842T>A (p.Leu281Gln)
c.2432T>A (p.Leu811Gln)
c.2156T>A (p.Leu719Gln)
c.2420T>A (p.Leu807Gln)
c.2618T>A (p.Leu873Gln)
c.3023T>A (p.Leu1008Gln)
15g.22903773G>ACA488526448CYFIP1c.2515C>T (p.Leu839=)
c.2521C>T (p.Leu841=)
c.1228C>T (p.Leu410=)
n.914C>T
n.1668C>T
c.2920C>T (p.Leu974=)
c.2623C>T (p.Leu875=)
c.841C>T (p.Leu281=)
c.2431C>T (p.Leu811=)
c.2155C>T (p.Leu719=)
c.2419C>T (p.Leu807=)
c.2617C>T (p.Leu873=)
c.3022C>T (p.Leu1008=)
15g.22903773G>CCA391334395CYFIP1c.2515C>G (p.Leu839Val)
c.2521C>G (p.Leu841Val)
c.1228C>G (p.Leu410Val)
n.914C>G
n.1668C>G
c.2920C>G (p.Leu974Val)
c.2623C>G (p.Leu875Val)
c.841C>G (p.Leu281Val)
c.2431C>G (p.Leu811Val)
c.2155C>G (p.Leu719Val)
c.2419C>G (p.Leu807Val)
c.2617C>G (p.Leu873Val)
c.3022C>G (p.Leu1008Val)
15g.22903773G>TCA391334396CYFIP1c.2515C>A (p.Leu839Met)
c.2521C>A (p.Leu841Met)
c.1228C>A (p.Leu410Met)
n.914C>A
n.1668C>A
c.2920C>A (p.Leu974Met)
c.2623C>A (p.Leu875Met)
c.841C>A (p.Leu281Met)
c.2431C>A (p.Leu811Met)
c.2155C>A (p.Leu719Met)
c.2419C>A (p.Leu807Met)
c.2617C>A (p.Leu873Met)
c.3022C>A (p.Leu1008Met)
15g.22903774G>ACA488526451CYFIP1c.2514C>T (p.Thr838=)
c.2520C>T (p.Thr840=)
c.1227C>T (p.Thr409=)
n.913C>T
n.1667C>T
c.2919C>T (p.Thr973=)
c.2622C>T (p.Thr874=)
c.840C>T (p.Thr280=)
c.2430C>T (p.Thr810=)
c.2154C>T (p.Thr718=)
c.2418C>T (p.Thr806=)
c.2616C>T (p.Thr872=)
c.3021C>T (p.Thr1007=)
 gnomAD v4
15g.22903774G>CCA488526449CYFIP1c.2514C>G (p.Thr838=)
c.2520C>G (p.Thr840=)
c.1227C>G (p.Thr409=)
n.913C>G
n.1667C>G
c.2919C>G (p.Thr973=)
c.2622C>G (p.Thr874=)
c.840C>G (p.Thr280=)
c.2430C>G (p.Thr810=)
c.2154C>G (p.Thr718=)
c.2418C>G (p.Thr806=)
c.2616C>G (p.Thr872=)
c.3021C>G (p.Thr1007=)
15g.22903774G>TCA488526450CYFIP1c.2514C>A (p.Thr838=)
c.2520C>A (p.Thr840=)
c.1227C>A (p.Thr409=)
n.913C>A
n.1667C>A
c.2919C>A (p.Thr973=)
c.2622C>A (p.Thr874=)
c.840C>A (p.Thr280=)
c.2430C>A (p.Thr810=)
c.2154C>A (p.Thr718=)
c.2418C>A (p.Thr806=)
c.2616C>A (p.Thr872=)
c.3021C>A (p.Thr1007=)
15g.22903775G>ACA391334403CYFIP1c.2513C>T (p.Thr838Ile)
c.2519C>T (p.Thr840Ile)
c.1226C>T (p.Thr409Ile)
n.912C>T
n.1666C>T
c.2918C>T (p.Thr973Ile)
c.2621C>T (p.Thr874Ile)
c.839C>T (p.Thr280Ile)
c.2429C>T (p.Thr810Ile)
c.2153C>T (p.Thr718Ile)
c.2417C>T (p.Thr806Ile)
c.2615C>T (p.Thr872Ile)
c.3020C>T (p.Thr1007Ile)
15g.22903775G>CCA391334401CYFIP1c.2513C>G (p.Thr838Ser)
c.2519C>G (p.Thr840Ser)
c.1226C>G (p.Thr409Ser)
n.912C>G
n.1666C>G
c.2918C>G (p.Thr973Ser)
c.2621C>G (p.Thr874Ser)
c.839C>G (p.Thr280Ser)
c.2429C>G (p.Thr810Ser)
c.2153C>G (p.Thr718Ser)
c.2417C>G (p.Thr806Ser)
c.2615C>G (p.Thr872Ser)
c.3020C>G (p.Thr1007Ser)
15g.22903775G>TCA391334399CYFIP1c.2513C>A (p.Thr838Asn)
c.2519C>A (p.Thr840Asn)
c.1226C>A (p.Thr409Asn)
n.912C>A
n.1666C>A
c.2918C>A (p.Thr973Asn)
c.2621C>A (p.Thr874Asn)
c.839C>A (p.Thr280Asn)
c.2429C>A (p.Thr810Asn)
c.2153C>A (p.Thr718Asn)
c.2417C>A (p.Thr806Asn)
c.2615C>A (p.Thr872Asn)
c.3020C>A (p.Thr1007Asn)
15g.22903776T>ACA391334405CYFIP1c.2512A>T (p.Thr838Ser)
c.2518A>T (p.Thr840Ser)
c.1225A>T (p.Thr409Ser)
n.911A>T
n.1665A>T
c.2917A>T (p.Thr973Ser)
c.2620A>T (p.Thr874Ser)
c.838A>T (p.Thr280Ser)
c.2428A>T (p.Thr810Ser)
c.2152A>T (p.Thr718Ser)
c.2416A>T (p.Thr806Ser)
c.2614A>T (p.Thr872Ser)
c.3019A>T (p.Thr1007Ser)
15g.22903776T>CCA391334407CYFIP1c.2512A>G (p.Thr838Ala)
c.2518A>G (p.Thr840Ala)
c.1225A>G (p.Thr409Ala)
n.911A>G
n.1665A>G
c.2917A>G (p.Thr973Ala)
c.2620A>G (p.Thr874Ala)
c.838A>G (p.Thr280Ala)
c.2428A>G (p.Thr810Ala)
c.2152A>G (p.Thr718Ala)
c.2416A>G (p.Thr806Ala)
c.2614A>G (p.Thr872Ala)
c.3019A>G (p.Thr1007Ala)
 gnomAD v4
15g.22903776T>GCA391334409CYFIP1c.2512A>C (p.Thr838Pro)
c.2518A>C (p.Thr840Pro)
c.1225A>C (p.Thr409Pro)
n.911A>C
n.1665A>C
c.2917A>C (p.Thr973Pro)
c.2620A>C (p.Thr874Pro)
c.838A>C (p.Thr280Pro)
c.2428A>C (p.Thr810Pro)
c.2152A>C (p.Thr718Pro)
c.2416A>C (p.Thr806Pro)
c.2614A>C (p.Thr872Pro)
c.3019A>C (p.Thr1007Pro)
15g.22903777G>ACA7425120CYFIP1c.2511C>T (p.Ile837=)
c.2517C>T (p.Ile839=)
c.1224C>T (p.Ile408=)
n.910C>T
n.1664C>T
c.2916C>T (p.Ile972=)
c.2619C>T (p.Ile873=)
c.837C>T (p.Ile279=)
c.2427C>T (p.Ile809=)
c.2151C>T (p.Ile717=)
c.2415C>T (p.Ile805=)
c.2613C>T (p.Ile871=)
c.3018C>T (p.Ile1006=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.22903777G>CCA391334410CYFIP1c.2511C>G (p.Ile837Met)
c.2517C>G (p.Ile839Met)
c.1224C>G (p.Ile408Met)
n.910C>G
n.1664C>G
c.2916C>G (p.Ile972Met)
c.2619C>G (p.Ile873Met)
c.837C>G (p.Ile279Met)
c.2427C>G (p.Ile809Met)
c.2151C>G (p.Ile717Met)
c.2415C>G (p.Ile805Met)
c.2613C>G (p.Ile871Met)
c.3018C>G (p.Ile1006Met)
15g.22903777G=CA2163977980CYFIP1c.2511C= (p.Ile837=)
c.2517C= (p.Ile839=)
c.1224C= (p.Ile408=)
n.910C=
n.1664C=
c.2916C= (p.Ile972=)
c.2619C= (p.Ile873=)
c.837C= (p.Ile279=)
c.2427C= (p.Ile809=)
c.2151C= (p.Ile717=)
c.2415C= (p.Ile805=)
c.2613C= (p.Ile871=)
c.3018C= (p.Ile1006=)
15g.22903777G>TCA488526452CYFIP1c.2511C>A (p.Ile837=)
c.2517C>A (p.Ile839=)
c.1224C>A (p.Ile408=)
n.910C>A
n.1664C>A
c.2916C>A (p.Ile972=)
c.2619C>A (p.Ile873=)
c.837C>A (p.Ile279=)
c.2427C>A (p.Ile809=)
c.2151C>A (p.Ile717=)
c.2415C>A (p.Ile805=)
c.2613C>A (p.Ile871=)
c.3018C>A (p.Ile1006=)
15g.22903778A>CCA391334411CYFIP1c.2510T>G (p.Ile837Ser)
c.2516T>G (p.Ile839Ser)
c.1223T>G (p.Ile408Ser)
n.909T>G
n.1663T>G
c.2915T>G (p.Ile972Ser)
c.2618T>G (p.Ile873Ser)
c.836T>G (p.Ile279Ser)
c.2426T>G (p.Ile809Ser)
c.2150T>G (p.Ile717Ser)
c.2414T>G (p.Ile805Ser)
c.2612T>G (p.Ile871Ser)
c.3017T>G (p.Ile1006Ser)
15g.22903778A>GCA391334412CYFIP1c.2510T>C (p.Ile837Thr)
c.2516T>C (p.Ile839Thr)
c.1223T>C (p.Ile408Thr)
n.909T>C
n.1663T>C
c.2915T>C (p.Ile972Thr)
c.2618T>C (p.Ile873Thr)
c.836T>C (p.Ile279Thr)
c.2426T>C (p.Ile809Thr)
c.2150T>C (p.Ile717Thr)
c.2414T>C (p.Ile805Thr)
c.2612T>C (p.Ile871Thr)
c.3017T>C (p.Ile1006Thr)
15g.22903778A>TCA391334413CYFIP1c.2510T>A (p.Ile837Asn)
c.2516T>A (p.Ile839Asn)
c.1223T>A (p.Ile408Asn)
n.909T>A
n.1663T>A
c.2915T>A (p.Ile972Asn)
c.2618T>A (p.Ile873Asn)
c.836T>A (p.Ile279Asn)
c.2426T>A (p.Ile809Asn)
c.2150T>A (p.Ile717Asn)
c.2414T>A (p.Ile805Asn)
c.2612T>A (p.Ile871Asn)
c.3017T>A (p.Ile1006Asn)
15g.22903779T>ACA391334415CYFIP1c.2509A>T (p.Ile837Phe)
c.2515A>T (p.Ile839Phe)
c.1222A>T (p.Ile408Phe)
n.908A>T
n.1662A>T
c.2914A>T (p.Ile972Phe)
c.2617A>T (p.Ile873Phe)
c.835A>T (p.Ile279Phe)
c.2425A>T (p.Ile809Phe)
c.2149A>T (p.Ile717Phe)
c.2413A>T (p.Ile805Phe)
c.2611A>T (p.Ile871Phe)
c.3016A>T (p.Ile1006Phe)
 gnomAD v4
15g.22903779T>CCA391334416CYFIP1c.2509A>G (p.Ile837Val)
c.2515A>G (p.Ile839Val)
c.1222A>G (p.Ile408Val)
n.908A>G
n.1662A>G
c.2914A>G (p.Ile972Val)
c.2617A>G (p.Ile873Val)
c.835A>G (p.Ile279Val)
c.2425A>G (p.Ile809Val)
c.2149A>G (p.Ile717Val)
c.2413A>G (p.Ile805Val)
c.2611A>G (p.Ile871Val)
c.3016A>G (p.Ile1006Val)
15g.22903779T>GCA391334419CYFIP1c.2509A>C (p.Ile837Leu)
c.2515A>C (p.Ile839Leu)
c.1222A>C (p.Ile408Leu)
n.908A>C
n.1662A>C
c.2914A>C (p.Ile972Leu)
c.2617A>C (p.Ile873Leu)
c.835A>C (p.Ile279Leu)
c.2425A>C (p.Ile809Leu)
c.2149A>C (p.Ile717Leu)
c.2413A>C (p.Ile805Leu)
c.2611A>C (p.Ile871Leu)
c.3016A>C (p.Ile1006Leu)
15g.22903780C>ACA391334421CYFIP1c.2508G>T (p.Arg836Ser)
c.2514G>T (p.Arg838Ser)
c.1221G>T (p.Arg407Ser)
n.907G>T
n.1661G>T
c.2913G>T (p.Arg971Ser)
c.2616G>T (p.Arg872Ser)
c.834G>T (p.Arg278Ser)
c.2424G>T (p.Arg808Ser)
c.2148G>T (p.Arg716Ser)
c.2412G>T (p.Arg804Ser)
c.2610G>T (p.Arg870Ser)
c.3015G>T (p.Arg1005Ser)
15g.22903780C>GCA391334422CYFIP1c.2508G>C (p.Arg836Ser)
c.2514G>C (p.Arg838Ser)
c.1221G>C (p.Arg407Ser)
n.907G>C
n.1661G>C
c.2913G>C (p.Arg971Ser)
c.2616G>C (p.Arg872Ser)
c.834G>C (p.Arg278Ser)
c.2424G>C (p.Arg808Ser)
c.2148G>C (p.Arg716Ser)
c.2412G>C (p.Arg804Ser)
c.2610G>C (p.Arg870Ser)
c.3015G>C (p.Arg1005Ser)
15g.22903780C>TCA488526453CYFIP1c.2508G>A (p.Arg836=)
c.2514G>A (p.Arg838=)
c.1221G>A (p.Arg407=)
n.907G>A
n.1661G>A
c.2913G>A (p.Arg971=)
c.2616G>A (p.Arg872=)
c.834G>A (p.Arg278=)
c.2424G>A (p.Arg808=)
c.2148G>A (p.Arg716=)
c.2412G>A (p.Arg804=)
c.2610G>A (p.Arg870=)
c.3015G>A (p.Arg1005=)
 gnomAD v4
15g.22903781C>ACA391334427CYFIP1c.2507G>T (p.Arg836Met)
c.2513G>T (p.Arg838Met)
c.1220G>T (p.Arg407Met)
n.906G>T
n.1660G>T
c.2912G>T (p.Arg971Met)
c.2615G>T (p.Arg872Met)
c.833G>T (p.Arg278Met)
c.2423G>T (p.Arg808Met)
c.2147G>T (p.Arg716Met)
c.2411G>T (p.Arg804Met)
c.2609G>T (p.Arg870Met)
c.3014G>T (p.Arg1005Met)
15g.22903781C=CA2163977986CYFIP1c.2507G= (p.Arg836=)
c.2513G= (p.Arg838=)
c.1220G= (p.Arg407=)
n.906G=
n.1660G=
c.2912G= (p.Arg971=)
c.2615G= (p.Arg872=)
c.833G= (p.Arg278=)
c.2423G= (p.Arg808=)
c.2147G= (p.Arg716=)
c.2411G= (p.Arg804=)
c.2609G= (p.Arg870=)
c.3014G= (p.Arg1005=)
15g.22903781C>GCA391334426CYFIP1c.2507G>C (p.Arg836Thr)
c.2513G>C (p.Arg838Thr)
c.1220G>C (p.Arg407Thr)
n.906G>C
n.1660G>C
c.2912G>C (p.Arg971Thr)
c.2615G>C (p.Arg872Thr)
c.833G>C (p.Arg278Thr)
c.2423G>C (p.Arg808Thr)
c.2147G>C (p.Arg716Thr)
c.2411G>C (p.Arg804Thr)
c.2609G>C (p.Arg870Thr)
c.3014G>C (p.Arg1005Thr)
15g.22903781C>TCA391334424CYFIP1c.2507G>A (p.Arg836Lys)
c.2513G>A (p.Arg838Lys)
c.1220G>A (p.Arg407Lys)
n.906G>A
n.1660G>A
c.2912G>A (p.Arg971Lys)
c.2615G>A (p.Arg872Lys)
c.833G>A (p.Arg278Lys)
c.2423G>A (p.Arg808Lys)
c.2147G>A (p.Arg716Lys)
c.2411G>A (p.Arg804Lys)
c.2609G>A (p.Arg870Lys)
c.3014G>A (p.Arg1005Lys)
 dbSNP gnomAD v3 gnomAD v4
15g.22903782T>ACA391334432CYFIP1c.2506A>T (p.Arg836Trp)
c.2512A>T (p.Arg838Trp)
c.1219A>T (p.Arg407Trp)
n.905A>T
n.1659A>T
c.2911A>T (p.Arg971Trp)
c.2614A>T (p.Arg872Trp)
c.832A>T (p.Arg278Trp)
c.2422A>T (p.Arg808Trp)
c.2146A>T (p.Arg716Trp)
c.2410A>T (p.Arg804Trp)
c.2608A>T (p.Arg870Trp)
c.3013A>T (p.Arg1005Trp)
 COSMIC
15g.22903782T>CCA391334430CYFIP1c.2506A>G (p.Arg836Gly)
c.2512A>G (p.Arg838Gly)
c.1219A>G (p.Arg407Gly)
n.905A>G
n.1659A>G
c.2911A>G (p.Arg971Gly)
c.2614A>G (p.Arg872Gly)
c.832A>G (p.Arg278Gly)
c.2422A>G (p.Arg808Gly)
c.2146A>G (p.Arg716Gly)
c.2410A>G (p.Arg804Gly)
c.2608A>G (p.Arg870Gly)
c.3013A>G (p.Arg1005Gly)
15g.22903782T>GCA488526454CYFIP1c.2506A>C (p.Arg836=)
c.2512A>C (p.Arg838=)
c.1219A>C (p.Arg407=)
n.905A>C
n.1659A>C
c.2911A>C (p.Arg971=)
c.2614A>C (p.Arg872=)
c.832A>C (p.Arg278=)
c.2422A>C (p.Arg808=)
c.2146A>C (p.Arg716=)
c.2410A>C (p.Arg804=)
c.2608A>C (p.Arg870=)
c.3013A>C (p.Arg1005=)
15g.22903783C>ACA488526456CYFIP1c.2505G>T (p.Gly835=)
c.2511G>T (p.Gly837=)
c.1218G>T (p.Gly406=)
n.904G>T
n.1658G>T
c.2910G>T (p.Gly970=)
c.2613G>T (p.Gly871=)
c.831G>T (p.Gly277=)
c.2421G>T (p.Gly807=)
c.2145G>T (p.Gly715=)
c.2409G>T (p.Gly803=)
c.2607G>T (p.Gly869=)
c.3012G>T (p.Gly1004=)
15g.22903783C>GCA488526457CYFIP1c.2505G>C (p.Gly835=)
c.2511G>C (p.Gly837=)
c.1218G>C (p.Gly406=)
n.904G>C
n.1658G>C
c.2910G>C (p.Gly970=)
c.2613G>C (p.Gly871=)
c.831G>C (p.Gly277=)
c.2421G>C (p.Gly807=)
c.2145G>C (p.Gly715=)
c.2409G>C (p.Gly803=)
c.2607G>C (p.Gly869=)
c.3012G>C (p.Gly1004=)
15g.22903783C>TCA488526455CYFIP1c.2505G>A (p.Gly835=)
c.2511G>A (p.Gly837=)
c.1218G>A (p.Gly406=)
n.904G>A
n.1658G>A
c.2910G>A (p.Gly970=)
c.2613G>A (p.Gly871=)
c.831G>A (p.Gly277=)
c.2421G>A (p.Gly807=)
c.2145G>A (p.Gly715=)
c.2409G>A (p.Gly803=)
c.2607G>A (p.Gly869=)
c.3012G>A (p.Gly1004=)
 gnomAD v4
15g.22903784C>ACA391334433CYFIP1c.2504G>T (p.Gly835Val)
c.2510G>T (p.Gly837Val)
c.1217G>T (p.Gly406Val)
n.903G>T
n.1657G>T
c.2909G>T (p.Gly970Val)
c.2612G>T (p.Gly871Val)
c.830G>T (p.Gly277Val)
c.2420G>T (p.Gly807Val)
c.2144G>T (p.Gly715Val)
c.2408G>T (p.Gly803Val)
c.2606G>T (p.Gly869Val)
c.3011G>T (p.Gly1004Val)
15g.22903784C>GCA391334435CYFIP1c.2504G>C (p.Gly835Ala)
c.2510G>C (p.Gly837Ala)
c.1217G>C (p.Gly406Ala)
n.903G>C
n.1657G>C
c.2909G>C (p.Gly970Ala)
c.2612G>C (p.Gly871Ala)
c.830G>C (p.Gly277Ala)
c.2420G>C (p.Gly807Ala)
c.2144G>C (p.Gly715Ala)
c.2408G>C (p.Gly803Ala)
c.2606G>C (p.Gly869Ala)
c.3011G>C (p.Gly1004Ala)
15g.22903784C>TCA391334437CYFIP1c.2504G>A (p.Gly835Glu)
c.2510G>A (p.Gly837Glu)
c.1217G>A (p.Gly406Glu)
n.903G>A
n.1657G>A
c.2909G>A (p.Gly970Glu)
c.2612G>A (p.Gly871Glu)
c.830G>A (p.Gly277Glu)
c.2420G>A (p.Gly807Glu)
c.2144G>A (p.Gly715Glu)
c.2408G>A (p.Gly803Glu)
c.2606G>A (p.Gly869Glu)
c.3011G>A (p.Gly1004Glu)
15g.22903785C>ACA391334439CYFIP1c.2503G>T (p.Gly835Trp)
c.2509G>T (p.Gly837Trp)
c.1216G>T (p.Gly406Trp)
n.902G>T
n.1656G>T
c.2908G>T (p.Gly970Trp)
c.2611G>T (p.Gly871Trp)
c.829G>T (p.Gly277Trp)
c.2419G>T (p.Gly807Trp)
c.2143G>T (p.Gly715Trp)
c.2407G>T (p.Gly803Trp)
c.2605G>T (p.Gly869Trp)
c.3010G>T (p.Gly1004Trp)
15g.22903785C=CA2163977989CYFIP1c.2503G= (p.Gly835=)
c.2509G= (p.Gly837=)
c.1216G= (p.Gly406=)
n.902G=
n.1656G=
c.2908G= (p.Gly970=)
c.2611G= (p.Gly871=)
c.829G= (p.Gly277=)
c.2419G= (p.Gly807=)
c.2143G= (p.Gly715=)
c.2407G= (p.Gly803=)
c.2605G= (p.Gly869=)
c.3010G= (p.Gly1004=)
15g.22903785C>GCA391334441CYFIP1c.2503G>C (p.Gly835Arg)
c.2509G>C (p.Gly837Arg)
c.1216G>C (p.Gly406Arg)
n.902G>C
n.1656G>C
c.2908G>C (p.Gly970Arg)
c.2611G>C (p.Gly871Arg)
c.829G>C (p.Gly277Arg)
c.2419G>C (p.Gly807Arg)
c.2143G>C (p.Gly715Arg)
c.2407G>C (p.Gly803Arg)
c.2605G>C (p.Gly869Arg)
c.3010G>C (p.Gly1004Arg)
15g.22903785C>TCA267616387CYFIP1c.2503G>A (p.Gly835Arg)
c.2509G>A (p.Gly837Arg)
c.1216G>A (p.Gly406Arg)
n.902G>A
n.1656G>A
c.2908G>A (p.Gly970Arg)
c.2611G>A (p.Gly871Arg)
c.829G>A (p.Gly277Arg)
c.2419G>A (p.Gly807Arg)
c.2143G>A (p.Gly715Arg)
c.2407G>A (p.Gly803Arg)
c.2605G>A (p.Gly869Arg)
c.3010G>A (p.Gly1004Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.22903786G>ACA7425119CYFIP1c.2502C>T (p.Tyr834=)
c.2508C>T (p.Tyr836=)
c.1215C>T (p.Tyr405=)
n.901C>T
n.1655C>T
c.2907C>T (p.Tyr969=)
c.2610C>T (p.Tyr870=)
c.828C>T (p.Tyr276=)
c.2418C>T (p.Tyr806=)
c.2142C>T (p.Tyr714=)
c.2406C>T (p.Tyr802=)
c.2604C>T (p.Tyr868=)
c.3009C>T (p.Tyr1003=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903786G>CCA391334444CYFIP1c.2502C>G (p.Tyr834Ter)
c.2508C>G (p.Tyr836Ter)
c.1215C>G (p.Tyr405Ter)
n.901C>G
n.1655C>G
c.2907C>G (p.Tyr969Ter)
c.2610C>G (p.Tyr870Ter)
c.828C>G (p.Tyr276Ter)
c.2418C>G (p.Tyr806Ter)
c.2142C>G (p.Tyr714Ter)
c.2406C>G (p.Tyr802Ter)
c.2604C>G (p.Tyr868Ter)
c.3009C>G (p.Tyr1003Ter)
15g.22903786G=CA2163977997CYFIP1c.2502C= (p.Tyr834=)
c.2508C= (p.Tyr836=)
c.1215C= (p.Tyr405=)
n.901C=
n.1655C=
c.2907C= (p.Tyr969=)
c.2610C= (p.Tyr870=)
c.828C= (p.Tyr276=)
c.2418C= (p.Tyr806=)
c.2142C= (p.Tyr714=)
c.2406C= (p.Tyr802=)
c.2604C= (p.Tyr868=)
c.3009C= (p.Tyr1003=)
15g.22903786G>TCA391334446CYFIP1c.2502C>A (p.Tyr834Ter)
c.2508C>A (p.Tyr836Ter)
c.1215C>A (p.Tyr405Ter)
n.901C>A
n.1655C>A
c.2907C>A (p.Tyr969Ter)
c.2610C>A (p.Tyr870Ter)
c.828C>A (p.Tyr276Ter)
c.2418C>A (p.Tyr806Ter)
c.2142C>A (p.Tyr714Ter)
c.2406C>A (p.Tyr802Ter)
c.2604C>A (p.Tyr868Ter)
c.3009C>A (p.Tyr1003Ter)
 gnomAD v4
15g.22903787T>ACA391334447CYFIP1c.2501A>T (p.Tyr834Phe)
c.2507A>T (p.Tyr836Phe)
c.1214A>T (p.Tyr405Phe)
n.900A>T
n.1654A>T
c.2906A>T (p.Tyr969Phe)
c.2609A>T (p.Tyr870Phe)
c.827A>T (p.Tyr276Phe)
c.2417A>T (p.Tyr806Phe)
c.2141A>T (p.Tyr714Phe)
c.2405A>T (p.Tyr802Phe)
c.2603A>T (p.Tyr868Phe)
c.3008A>T (p.Tyr1003Phe)
 dbSNP gnomAD v2 gnomAD v4
15g.22903787T>CCA391334449CYFIP1c.2501A>G (p.Tyr834Cys)
c.2507A>G (p.Tyr836Cys)
c.1214A>G (p.Tyr405Cys)
n.900A>G
n.1654A>G
c.2906A>G (p.Tyr969Cys)
c.2609A>G (p.Tyr870Cys)
c.827A>G (p.Tyr276Cys)
c.2417A>G (p.Tyr806Cys)
c.2141A>G (p.Tyr714Cys)
c.2405A>G (p.Tyr802Cys)
c.2603A>G (p.Tyr868Cys)
c.3008A>G (p.Tyr1003Cys)
15g.22903787T>GCA391334450CYFIP1c.2501A>C (p.Tyr834Ser)
c.2507A>C (p.Tyr836Ser)
c.1214A>C (p.Tyr405Ser)
n.900A>C
n.1654A>C
c.2906A>C (p.Tyr969Ser)
c.2609A>C (p.Tyr870Ser)
c.827A>C (p.Tyr276Ser)
c.2417A>C (p.Tyr806Ser)
c.2141A>C (p.Tyr714Ser)
c.2405A>C (p.Tyr802Ser)
c.2603A>C (p.Tyr868Ser)
c.3008A>C (p.Tyr1003Ser)
15g.22903787T=CA2163978002CYFIP1c.2501A= (p.Tyr834=)
c.2507A= (p.Tyr836=)
c.1214A= (p.Tyr405=)
n.900A=
n.1654A=
c.2906A= (p.Tyr969=)
c.2609A= (p.Tyr870=)
c.827A= (p.Tyr276=)
c.2417A= (p.Tyr806=)
c.2141A= (p.Tyr714=)
c.2405A= (p.Tyr802=)
c.2603A= (p.Tyr868=)
c.3008A= (p.Tyr1003=)
15g.22903788A>CCA391334456CYFIP1c.2500T>G (p.Tyr834Asp)
c.2506T>G (p.Tyr836Asp)
c.1213T>G (p.Tyr405Asp)
n.899T>G
n.1653T>G
c.2905T>G (p.Tyr969Asp)
c.2608T>G (p.Tyr870Asp)
c.826T>G (p.Tyr276Asp)
c.2416T>G (p.Tyr806Asp)
c.2140T>G (p.Tyr714Asp)
c.2404T>G (p.Tyr802Asp)
c.2602T>G (p.Tyr868Asp)
c.3007T>G (p.Tyr1003Asp)
 dbSNP
15g.22903788A>GCA391334455CYFIP1c.2500T>C (p.Tyr834His)
c.2506T>C (p.Tyr836His)
c.1213T>C (p.Tyr405His)
n.899T>C
n.1653T>C
c.2905T>C (p.Tyr969His)
c.2608T>C (p.Tyr870His)
c.826T>C (p.Tyr276His)
c.2416T>C (p.Tyr806His)
c.2140T>C (p.Tyr714His)
c.2404T>C (p.Tyr802His)
c.2602T>C (p.Tyr868His)
c.3007T>C (p.Tyr1003His)
15g.22903788A>TCA391334453CYFIP1c.2500T>A (p.Tyr834Asn)
c.2506T>A (p.Tyr836Asn)
c.1213T>A (p.Tyr405Asn)
n.899T>A
n.1653T>A
c.2905T>A (p.Tyr969Asn)
c.2608T>A (p.Tyr870Asn)
c.826T>A (p.Tyr276Asn)
c.2416T>A (p.Tyr806Asn)
c.2140T>A (p.Tyr714Asn)
c.2404T>A (p.Tyr802Asn)
c.2602T>A (p.Tyr868Asn)
c.3007T>A (p.Tyr1003Asn)
 dbSNP
15g.22903789G>ACA488526459CYFIP1c.2499C>T (p.Pro833=)
c.2505C>T (p.Pro835=)
c.1212C>T (p.Pro404=)
n.898C>T
n.1652C>T
c.2904C>T (p.Pro968=)
c.2607C>T (p.Pro869=)
c.825C>T (p.Pro275=)
c.2415C>T (p.Pro805=)
c.2139C>T (p.Pro713=)
c.2403C>T (p.Pro801=)
c.2601C>T (p.Pro867=)
c.3006C>T (p.Pro1002=)
 dbSNP
15g.22903789G>CCA488526460CYFIP1c.2499C>G (p.Pro833=)
c.2505C>G (p.Pro835=)
c.1212C>G (p.Pro404=)
n.898C>G
n.1652C>G
c.2904C>G (p.Pro968=)
c.2607C>G (p.Pro869=)
c.825C>G (p.Pro275=)
c.2415C>G (p.Pro805=)
c.2139C>G (p.Pro713=)
c.2403C>G (p.Pro801=)
c.2601C>G (p.Pro867=)
c.3006C>G (p.Pro1002=)
 gnomAD v4
15g.22903789G=CA2163978005CYFIP1c.2499C= (p.Pro833=)
c.2505C= (p.Pro835=)
c.1212C= (p.Pro404=)
n.898C=
n.1652C=
c.2904C= (p.Pro968=)
c.2607C= (p.Pro869=)
c.825C= (p.Pro275=)
c.2415C= (p.Pro805=)
c.2139C= (p.Pro713=)
c.2403C= (p.Pro801=)
c.2601C= (p.Pro867=)
c.3006C= (p.Pro1002=)
15g.22903789G>TCA488526458CYFIP1c.2499C>A (p.Pro833=)
c.2505C>A (p.Pro835=)
c.1212C>A (p.Pro404=)
n.898C>A
n.1652C>A
c.2904C>A (p.Pro968=)
c.2607C>A (p.Pro869=)
c.825C>A (p.Pro275=)
c.2415C>A (p.Pro805=)
c.2139C>A (p.Pro713=)
c.2403C>A (p.Pro801=)
c.2601C>A (p.Pro867=)
c.3006C>A (p.Pro1002=)
15g.22903790G>ACA391334458CYFIP1c.2498C>T (p.Pro833Leu)
c.2504C>T (p.Pro835Leu)
c.1211C>T (p.Pro404Leu)
n.897C>T
n.1651C>T
c.2903C>T (p.Pro968Leu)
c.2606C>T (p.Pro869Leu)
c.824C>T (p.Pro275Leu)
c.2414C>T (p.Pro805Leu)
c.2138C>T (p.Pro713Leu)
c.2402C>T (p.Pro801Leu)
c.2600C>T (p.Pro867Leu)
c.3005C>T (p.Pro1002Leu)
15g.22903790G>CCA391334460CYFIP1c.2498C>G (p.Pro833Arg)
c.2504C>G (p.Pro835Arg)
c.1211C>G (p.Pro404Arg)
n.897C>G
n.1651C>G
c.2903C>G (p.Pro968Arg)
c.2606C>G (p.Pro869Arg)
c.824C>G (p.Pro275Arg)
c.2414C>G (p.Pro805Arg)
c.2138C>G (p.Pro713Arg)
c.2402C>G (p.Pro801Arg)
c.2600C>G (p.Pro867Arg)
c.3005C>G (p.Pro1002Arg)
15g.22903790G>TCA391334462CYFIP1c.2498C>A (p.Pro833His)
c.2504C>A (p.Pro835His)
c.1211C>A (p.Pro404His)
n.897C>A
n.1651C>A
c.2903C>A (p.Pro968His)
c.2606C>A (p.Pro869His)
c.824C>A (p.Pro275His)
c.2414C>A (p.Pro805His)
c.2138C>A (p.Pro713His)
c.2402C>A (p.Pro801His)
c.2600C>A (p.Pro867His)
c.3005C>A (p.Pro1002His)
15g.22903791G>ACA391334464CYFIP1c.2497C>T (p.Pro833Ser)
c.2503C>T (p.Pro835Ser)
c.1210C>T (p.Pro404Ser)
n.896C>T
n.1650C>T
c.2902C>T (p.Pro968Ser)
c.2605C>T (p.Pro869Ser)
c.823C>T (p.Pro275Ser)
c.2413C>T (p.Pro805Ser)
c.2137C>T (p.Pro713Ser)
c.2401C>T (p.Pro801Ser)
c.2599C>T (p.Pro867Ser)
c.3004C>T (p.Pro1002Ser)
15g.22903791G>CCA391334465CYFIP1c.2497C>G (p.Pro833Ala)
c.2503C>G (p.Pro835Ala)
c.1210C>G (p.Pro404Ala)
n.896C>G
n.1650C>G
c.2902C>G (p.Pro968Ala)
c.2605C>G (p.Pro869Ala)
c.823C>G (p.Pro275Ala)
c.2413C>G (p.Pro805Ala)
c.2137C>G (p.Pro713Ala)
c.2401C>G (p.Pro801Ala)
c.2599C>G (p.Pro867Ala)
c.3004C>G (p.Pro1002Ala)
15g.22903791G>TCA391334467CYFIP1c.2497C>A (p.Pro833Thr)
c.2503C>A (p.Pro835Thr)
c.1210C>A (p.Pro404Thr)
n.896C>A
n.1650C>A
c.2902C>A (p.Pro968Thr)
c.2605C>A (p.Pro869Thr)
c.823C>A (p.Pro275Thr)
c.2413C>A (p.Pro805Thr)
c.2137C>A (p.Pro713Thr)
c.2401C>A (p.Pro801Thr)
c.2599C>A (p.Pro867Thr)
c.3004C>A (p.Pro1002Thr)
15g.22903792C>ACA488526461CYFIP1c.2496G>T (p.Ala832=)
c.2502G>T (p.Ala834=)
c.1209G>T (p.Ala403=)
n.895G>T
n.1649G>T
c.2901G>T (p.Ala967=)
c.2604G>T (p.Ala868=)
c.822G>T (p.Ala274=)
c.2412G>T (p.Ala804=)
c.2136G>T (p.Ala712=)
c.2400G>T (p.Ala800=)
c.2598G>T (p.Ala866=)
c.3003G>T (p.Ala1001=)
15g.22903792C=CA2163978009CYFIP1c.2496G= (p.Ala832=)
c.2502G= (p.Ala834=)
c.1209G= (p.Ala403=)
n.895G=
n.1649G=
c.2901G= (p.Ala967=)
c.2604G= (p.Ala868=)
c.822G= (p.Ala274=)
c.2412G= (p.Ala804=)
c.2136G= (p.Ala712=)
c.2400G= (p.Ala800=)
c.2598G= (p.Ala866=)
c.3003G= (p.Ala1001=)
15g.22903792C>GCA488526462CYFIP1c.2496G>C (p.Ala832=)
c.2502G>C (p.Ala834=)
c.1209G>C (p.Ala403=)
n.895G>C
n.1649G>C
c.2901G>C (p.Ala967=)
c.2604G>C (p.Ala868=)
c.822G>C (p.Ala274=)
c.2412G>C (p.Ala804=)
c.2136G>C (p.Ala712=)
c.2400G>C (p.Ala800=)
c.2598G>C (p.Ala866=)
c.3003G>C (p.Ala1001=)
 gnomAD v4
15g.22903792C>TCA7425118CYFIP1c.2496G>A (p.Ala832=)
c.2502G>A (p.Ala834=)
c.1209G>A (p.Ala403=)
n.895G>A
n.1649G>A
c.2901G>A (p.Ala967=)
c.2604G>A (p.Ala868=)
c.822G>A (p.Ala274=)
c.2412G>A (p.Ala804=)
c.2136G>A (p.Ala712=)
c.2400G>A (p.Ala800=)
c.2598G>A (p.Ala866=)
c.3003G>A (p.Ala1001=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903793G>ACA391334468CYFIP1c.2495C>T (p.Ala832Val)
c.2501C>T (p.Ala834Val)
c.1208C>T (p.Ala403Val)
n.894C>T
n.1648C>T
c.2900C>T (p.Ala967Val)
c.2603C>T (p.Ala868Val)
c.821C>T (p.Ala274Val)
c.2411C>T (p.Ala804Val)
c.2135C>T (p.Ala712Val)
c.2399C>T (p.Ala800Val)
c.2597C>T (p.Ala866Val)
c.3002C>T (p.Ala1001Val)
 dbSNP gnomAD v2 gnomAD v4
15g.22903793G>CCA391334469CYFIP1c.2495C>G (p.Ala832Gly)
c.2501C>G (p.Ala834Gly)
c.1208C>G (p.Ala403Gly)
n.894C>G
n.1648C>G
c.2900C>G (p.Ala967Gly)
c.2603C>G (p.Ala868Gly)
c.821C>G (p.Ala274Gly)
c.2411C>G (p.Ala804Gly)
c.2135C>G (p.Ala712Gly)
c.2399C>G (p.Ala800Gly)
c.2597C>G (p.Ala866Gly)
c.3002C>G (p.Ala1001Gly)
15g.22903793G=CA2163978013CYFIP1c.2495C= (p.Ala832=)
c.2501C= (p.Ala834=)
c.1208C= (p.Ala403=)
n.894C=
n.1648C=
c.2900C= (p.Ala967=)
c.2603C= (p.Ala868=)
c.821C= (p.Ala274=)
c.2411C= (p.Ala804=)
c.2135C= (p.Ala712=)
c.2399C= (p.Ala800=)
c.2597C= (p.Ala866=)
c.3002C= (p.Ala1001=)
15g.22903793G>TCA391334470CYFIP1c.2495C>A (p.Ala832Glu)
c.2501C>A (p.Ala834Glu)
c.1208C>A (p.Ala403Glu)
n.894C>A
n.1648C>A
c.2900C>A (p.Ala967Glu)
c.2603C>A (p.Ala868Glu)
c.821C>A (p.Ala274Glu)
c.2411C>A (p.Ala804Glu)
c.2135C>A (p.Ala712Glu)
c.2399C>A (p.Ala800Glu)
c.2597C>A (p.Ala866Glu)
c.3002C>A (p.Ala1001Glu)
15g.22903794C>ACA391334473CYFIP1c.2494G>T (p.Ala832Ser)
c.2500G>T (p.Ala834Ser)
c.1207G>T (p.Ala403Ser)
n.893G>T
n.1647G>T
c.2899G>T (p.Ala967Ser)
c.2602G>T (p.Ala868Ser)
c.820G>T (p.Ala274Ser)
c.2410G>T (p.Ala804Ser)
c.2134G>T (p.Ala712Ser)
c.2398G>T (p.Ala800Ser)
c.2596G>T (p.Ala866Ser)
c.3001G>T (p.Ala1001Ser)
 dbSNP
15g.22903794C>GCA391334474CYFIP1c.2494G>C (p.Ala832Pro)
c.2500G>C (p.Ala834Pro)
c.1207G>C (p.Ala403Pro)
n.893G>C
n.1647G>C
c.2899G>C (p.Ala967Pro)
c.2602G>C (p.Ala868Pro)
c.820G>C (p.Ala274Pro)
c.2410G>C (p.Ala804Pro)
c.2134G>C (p.Ala712Pro)
c.2398G>C (p.Ala800Pro)
c.2596G>C (p.Ala866Pro)
c.3001G>C (p.Ala1001Pro)
 dbSNP
15g.22903794C>TCA391334476CYFIP1c.2494G>A (p.Ala832Thr)
c.2500G>A (p.Ala834Thr)
c.1207G>A (p.Ala403Thr)
n.893G>A
n.1647G>A
c.2899G>A (p.Ala967Thr)
c.2602G>A (p.Ala868Thr)
c.820G>A (p.Ala274Thr)
c.2410G>A (p.Ala804Thr)
c.2134G>A (p.Ala712Thr)
c.2398G>A (p.Ala800Thr)
c.2596G>A (p.Ala866Thr)
c.3001G>A (p.Ala1001Thr)
15g.22903795T>ACA488526463CYFIP1c.2493A>T (p.Ser831=)
c.2499A>T (p.Ser833=)
c.1206A>T (p.Ser402=)
n.892A>T
n.1646A>T
c.2898A>T (p.Ser966=)
c.2601A>T (p.Ser867=)
c.819A>T (p.Ser273=)
c.2409A>T (p.Ser803=)
c.2133A>T (p.Ser711=)
c.2397A>T (p.Ser799=)
c.2595A>T (p.Ser865=)
c.3000A>T (p.Ser1000=)
15g.22903795T>CCA7425117CYFIP1c.2493A>G (p.Ser831=)
c.2499A>G (p.Ser833=)
c.1206A>G (p.Ser402=)
n.892A>G
n.1646A>G
c.2898A>G (p.Ser966=)
c.2601A>G (p.Ser867=)
c.819A>G (p.Ser273=)
c.2409A>G (p.Ser803=)
c.2133A>G (p.Ser711=)
c.2397A>G (p.Ser799=)
c.2595A>G (p.Ser865=)
c.3000A>G (p.Ser1000=)
 dbSNP ExAC gnomAD v2
15g.22903795T>GCA488526464CYFIP1c.2493A>C (p.Ser831=)
c.2499A>C (p.Ser833=)
c.1206A>C (p.Ser402=)
n.892A>C
n.1646A>C
c.2898A>C (p.Ser966=)
c.2601A>C (p.Ser867=)
c.819A>C (p.Ser273=)
c.2409A>C (p.Ser803=)
c.2133A>C (p.Ser711=)
c.2397A>C (p.Ser799=)
c.2595A>C (p.Ser865=)
c.3000A>C (p.Ser1000=)
15g.22903795T=CA2163978016CYFIP1c.2493A= (p.Ser831=)
c.2499A= (p.Ser833=)
c.1206A= (p.Ser402=)
n.892A=
n.1646A=
c.2898A= (p.Ser966=)
c.2601A= (p.Ser867=)
c.819A= (p.Ser273=)
c.2409A= (p.Ser803=)
c.2133A= (p.Ser711=)
c.2397A= (p.Ser799=)
c.2595A= (p.Ser865=)
c.3000A= (p.Ser1000=)
15g.22903796G>ACA391334480CYFIP1c.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)
15g.22903796G>CCA391334483CYFIP1c.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)
15g.22903796G>TCA391334479CYFIP1c.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)
15g.22903797A>CCA391334485CYFIP1c.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)
15g.22903797A>GCA391334486CYFIP1c.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)
15g.22903797A>TCA391334489CYFIP1c.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
15g.22903798C>ACA488526467CYFIP1c.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=)
15g.22903798C>GCA488526465CYFIP1c.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=)
15g.22903798C>TCA488526466CYFIP1c.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=)
15g.22903799A=CA2163978019CYFIP1c.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=)
15g.22903799A>CCA391334491CYFIP1c.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)
15g.22903799A>GCA7425116CYFIP1c.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
15g.22903799A>TCA391334492CYFIP1c.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)
15g.22903800C>ACA391334495CYFIP1c.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)
15g.22903800C=CA2163978023CYFIP1c.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=)
15g.22903800C>GCA391334497CYFIP1c.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
15g.22903800C>TCA7425115CYFIP1c.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
15g.22903801G>ACA267616413CYFIP1c.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
15g.22903801G>CCA391334500CYFIP1c.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)
15g.22903801G=CA2163978027CYFIP1c.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=)
15g.22903801G>TCA391334502CYFIP1c.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
15g.22903802T>ACA391334507CYFIP1c.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)
15g.22903802T>CCA391334505CYFIP1c.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
15g.22903802T>GCA391334504CYFIP1c.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)
15g.22903803T>ACA391334509CYFIP1c.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)
15g.22903803T>CCA391334511CYFIP1c.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
15g.22903803T>GCA391334512CYFIP1c.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)
15g.22903804G>ACA488526468CYFIP1c.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=)
15g.22903804G>CCA391334514CYFIP1c.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)
15g.22903804G>TCA391334516CYFIP1c.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
15g.22903805T>ACA391334519CYFIP1c.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)
15g.22903805T>CCA391334520CYFIP1c.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)
15g.22903805T>GCA391334521CYFIP1c.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)
15g.22903806G>ACA391334522CYFIP1c.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
15g.22903806G>CCA391334524CYFIP1c.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)
15g.22903806G>TCA391334526CYFIP1c.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)
15g.22903807G>ACA488526469CYFIP1c.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=)
15g.22903807G>CCA391334528CYFIP1c.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)
15g.22903807G>TCA391334529CYFIP1c.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)
15g.22903808T>ACA391334534CYFIP1c.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)
15g.22903808T>CCA391334536CYFIP1c.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
15g.22903808T>GCA391334532CYFIP1c.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)
15g.22903808T=CA2163978031CYFIP1c.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=)
15g.22903809T>ACA391334538CYFIP1c.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)
15g.22903809T>CCA391334541CYFIP1c.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)
15g.22903809T>GCA391334542CYFIP1c.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)
15g.22903810G>ACA488526472CYFIP1c.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=)
15g.22903810G>CCA488526471CYFIP1c.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=)
15g.22903810G>TCA488526470CYFIP1c.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=)
15g.22903811G>ACA391334544CYFIP1c.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)
15g.22903811G>CCA391334546CYFIP1c.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
15g.22903811G=CA2163978034CYFIP1c.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=)
15g.22903811G>TCA391334548CYFIP1c.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)
15g.22903812C>ACA391334550CYFIP1c.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
15g.22903812C=CA2163978036CYFIP1c.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=)
15g.22903812C>GCA391334551CYFIP1c.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)
15g.22903812C>TCA7425114CYFIP1c.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
15g.22903813C>ACA391334554CYFIP1c.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)
15g.22903813C=CA2163978038CYFIP1c.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=)
15g.22903813C>GCA391334555CYFIP1c.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)
15g.22903813C>TCA488526473CYFIP1c.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
15g.22903814T>ACA391334557CYFIP1c.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)
15g.22903814T>CCA391334558CYFIP1c.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
15g.22903814T>GCA391334559CYFIP1c.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)
15g.22903815C>ACA391334562CYFIP1c.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)
15g.22903815C>GCA391334561CYFIP1c.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)
15g.22903815C>TCA391334560CYFIP1c.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)
15g.22903816C>ACA267616451CYFIP1c.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
15g.22903816C=CA2163978040CYFIP1c.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=)
15g.22903816C>GCA488526474CYFIP1c.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=)
15g.22903816C>TCA488526475CYFIP1c.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=)
15g.22903817C>ACA391334565CYFIP1c.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)
15g.22903817C=CA2163978043CYFIP1c.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=)
15g.22903817C>GCA391334567CYFIP1c.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)
15g.22903817C>TCA7425113CYFIP1c.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
15g.22903818G>ACA7425112CYFIP1c.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
15g.22903818G>CCA391334570CYFIP1c.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)
15g.22903818G=CA2163978048CYFIP1c.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=)
15g.22903818G>TCA488526476CYFIP1c.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=)
15g.22903819G>ACA488526477CYFIP1c.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=)
15g.22903819G>CCA391334572CYFIP1c.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)
15g.22903819G=CA2163978050CYFIP1c.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=)
15g.22903819G>TCA7425111CYFIP1c.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
15g.22903820A>CCA391334575CYFIP1c.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)
15g.22903820A>GCA391334576CYFIP1c.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)
15g.22903820A>TCA391334578CYFIP1c.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)
15g.22903821A>CCA391334581CYFIP1c.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)
15g.22903821A>GCA391334582CYFIP1c.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)
15g.22903821A>TCA391334583CYFIP1c.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)
15g.22903822C>ACA391334587CYFIP1c.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)
15g.22903822C=CA2163978052CYFIP1c.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=)
15g.22903822C>GCA391334588CYFIP1c.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)
15g.22903822C>TCA391334586CYFIP1c.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
15g.22903823A=CA2163978055CYFIP1c.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=)
15g.22903823A>CCA391334590CYFIP1c.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)
15g.22903823A>GCA391334592CYFIP1c.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
15g.22903823A>TCA391334594CYFIP1c.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)
15g.22903824T>ACA391334596CYFIP1c.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)
15g.22903824T>CCA7425110CYFIP1c.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
15g.22903824T>GCA391334598CYFIP1c.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
15g.22903824T=CA2163978058CYFIP1c.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=)
15g.22903825G>ACA488526478CYFIP1c.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=)
15g.22903825G>CCA488526479CYFIP1c.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=)
15g.22903825G>TCA488526480CYFIP1c.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=)
15g.22903826G>ACA391334600CYFIP1c.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)
15g.22903826G>CCA391334602CYFIP1c.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)
15g.22903826G>TCA391334604CYFIP1c.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)
15g.22903827C>ACA391334605CYFIP1c.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)
15g.22903827C=CA2163978061CYFIP1c.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=)
15g.22903827C>GCA391334606CYFIP1c.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)
15g.22903827C>TCA7425109CYFIP1c.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
15g.22903828G>ACA7425108CYFIP1c.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
15g.22903828G>CCA391334611CYFIP1c.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)
15g.22903828G=CA2163978064CYFIP1c.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=)
15g.22903828G>TCA391334610CYFIP1c.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)
15g.22903829T>ACA391334614CYFIP1c.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)
15g.22903829T>CCA391334616CYFIP1c.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)
15g.22903829T>GCA391334617CYFIP1c.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
15g.22903830C>ACA391334619CYFIP1c.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
15g.22903830C=CA2163978066CYFIP1c.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=)
15g.22903830C>GCA391334621CYFIP1c.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)
15g.22903830C>TCA7425107CYFIP1c.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
15g.22903831G>ACA7425106CYFIP1c.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
15g.22903831G>CCA391334625CYFIP1c.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)
15g.22903831G=CA2163978069CYFIP1c.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=)
15g.22903831G>TCA391334627CYFIP1c.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)
15g.22903832A>CCA391334629CYFIP1c.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)
15g.22903832A>GCA391334630CYFIP1c.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)
15g.22903832A>TCA391334632CYFIP1c.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)
15g.22903833A>CCA391334633CYFIP1c.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
15g.22903833A>GCA391334636CYFIP1c.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)
15g.22903833A>TCA391334635CYFIP1c.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
15g.22903834G>ACA488526483CYFIP1c.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=)
15g.22903834G>CCA488526481CYFIP1c.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=)
15g.22903834G>TCA488526482CYFIP1c.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=)
15g.22903835C>ACA391334638CYFIP1c.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)
15g.22903835C=CA2163978072CYFIP1c.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=)
15g.22903835C>GCA391334640CYFIP1c.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)
15g.22903835C>TCA7425105CYFIP1c.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
15g.22903836C>ACA391334642CYFIP1c.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)
15g.22903836C=CA2163978076CYFIP1c.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=)
15g.22903836C>GCA391334644CYFIP1c.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)
15g.22903836C>TCA7425104CYFIP1c.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
15g.22903837G>ACA488526484CYFIP1c.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
15g.22903837G>CCA391334647CYFIP1c.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)
15g.22903837G=CA2163978078CYFIP1c.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=)
15g.22903837G>TCA391334648CYFIP1c.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)
15g.22903838T>ACA391334651CYFIP1c.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
15g.22903838T>CCA391334653CYFIP1c.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)
15g.22903838T>GCA391334655CYFIP1c.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
15g.22903839C>ACA391334657CYFIP1c.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)
15g.22903839C>GCA391334658CYFIP1c.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
15g.22903839C>TCA391334660CYFIP1c.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

Number of alleles fetched