Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
15g.22903840C>ACA488526485CYFIP1c.2448G>T (p.Leu816=)
c.2454G>T (p.Leu818=)
c.1161G>T (p.Leu387=)
n.847G>T
n.1601G>T
c.2853G>T (p.Leu951=)
c.2556G>T (p.Leu852=)
c.774G>T (p.Leu258=)
c.2364G>T (p.Leu788=)
c.2088G>T (p.Leu696=)
c.2352G>T (p.Leu784=)
c.2550G>T (p.Leu850=)
c.2955G>T (p.Leu985=)
15g.22903840C=CA2163978081CYFIP1c.2448G= (p.Leu816=)
c.2454G= (p.Leu818=)
c.1161G= (p.Leu387=)
n.847G=
n.1601G=
c.2853G= (p.Leu951=)
c.2556G= (p.Leu852=)
c.774G= (p.Leu258=)
c.2364G= (p.Leu788=)
c.2088G= (p.Leu696=)
c.2352G= (p.Leu784=)
c.2550G= (p.Leu850=)
c.2955G= (p.Leu985=)
15g.22903840C>GCA488526486CYFIP1c.2448G>C (p.Leu816=)
c.2454G>C (p.Leu818=)
c.1161G>C (p.Leu387=)
n.847G>C
n.1601G>C
c.2853G>C (p.Leu951=)
c.2556G>C (p.Leu852=)
c.774G>C (p.Leu258=)
c.2364G>C (p.Leu788=)
c.2088G>C (p.Leu696=)
c.2352G>C (p.Leu784=)
c.2550G>C (p.Leu850=)
c.2955G>C (p.Leu985=)
15g.22903840C>TCA488526487CYFIP1c.2448G>A (p.Leu816=)
c.2454G>A (p.Leu818=)
c.1161G>A (p.Leu387=)
n.847G>A
n.1601G>A
c.2853G>A (p.Leu951=)
c.2556G>A (p.Leu852=)
c.774G>A (p.Leu258=)
c.2364G>A (p.Leu788=)
c.2088G>A (p.Leu696=)
c.2352G>A (p.Leu784=)
c.2550G>A (p.Leu850=)
c.2955G>A (p.Leu985=)
dbSNP gnomAD v4
15g.22903844_22903861delCA2627257802CYFIP1c.2431_2448del (p.Ser811_Leu816del)
c.2437_2454del (p.Ser813_Leu818del)
c.1144_1161del (p.Ser382_Leu387del)
n.830_847del
n.1584_1601del
c.2836_2853del (p.Ser946_Leu951del)
c.2539_2556del (p.Ser847_Leu852del)
c.757_774del (p.Ser253_Leu258del)
c.2347_2364del (p.Ser783_Leu788del)
c.2071_2088del (p.Ser691_Leu696del)
c.2335_2352del (p.Ser779_Leu784del)
c.2533_2550del (p.Ser845_Leu850del)
c.2938_2955del (p.Ser980_Leu985del)
gnomAD v4
15g.22903841A=CA2163978083CYFIP1c.2447T= (p.Leu816=)
c.2453T= (p.Leu818=)
c.1160T= (p.Leu387=)
n.846T=
n.1600T=
c.2852T= (p.Leu951=)
c.2555T= (p.Leu852=)
c.773T= (p.Leu258=)
c.2363T= (p.Leu788=)
c.2087T= (p.Leu696=)
c.2351T= (p.Leu784=)
c.2549T= (p.Leu850=)
c.2954T= (p.Leu985=)
15g.22903841A>CCA391334665CYFIP1c.2447T>G (p.Leu816Arg)
c.2453T>G (p.Leu818Arg)
c.1160T>G (p.Leu387Arg)
n.846T>G
n.1600T>G
c.2852T>G (p.Leu951Arg)
c.2555T>G (p.Leu852Arg)
c.773T>G (p.Leu258Arg)
c.2363T>G (p.Leu788Arg)
c.2087T>G (p.Leu696Arg)
c.2351T>G (p.Leu784Arg)
c.2549T>G (p.Leu850Arg)
c.2954T>G (p.Leu985Arg)
15g.22903841A>GCA7425103CYFIP1c.2447T>C (p.Leu816Pro)
c.2453T>C (p.Leu818Pro)
c.1160T>C (p.Leu387Pro)
n.846T>C
n.1600T>C
c.2852T>C (p.Leu951Pro)
c.2555T>C (p.Leu852Pro)
c.773T>C (p.Leu258Pro)
c.2363T>C (p.Leu788Pro)
c.2087T>C (p.Leu696Pro)
c.2351T>C (p.Leu784Pro)
c.2549T>C (p.Leu850Pro)
c.2954T>C (p.Leu985Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.22903841A>TCA391334663CYFIP1c.2447T>A (p.Leu816Gln)
c.2453T>A (p.Leu818Gln)
c.1160T>A (p.Leu387Gln)
n.846T>A
n.1600T>A
c.2852T>A (p.Leu951Gln)
c.2555T>A (p.Leu852Gln)
c.773T>A (p.Leu258Gln)
c.2363T>A (p.Leu788Gln)
c.2087T>A (p.Leu696Gln)
c.2351T>A (p.Leu784Gln)
c.2549T>A (p.Leu850Gln)
c.2954T>A (p.Leu985Gln)
dbSNP
15g.22903842G>ACA488526488CYFIP1c.2446C>T (p.Leu816=)
c.2452C>T (p.Leu818=)
c.1159C>T (p.Leu387=)
n.845C>T
n.1599C>T
c.2851C>T (p.Leu951=)
c.2554C>T (p.Leu852=)
c.772C>T (p.Leu258=)
c.2362C>T (p.Leu788=)
c.2086C>T (p.Leu696=)
c.2350C>T (p.Leu784=)
c.2548C>T (p.Leu850=)
c.2953C>T (p.Leu985=)
15g.22903842G>CCA391334668CYFIP1c.2446C>G (p.Leu816Val)
c.2452C>G (p.Leu818Val)
c.1159C>G (p.Leu387Val)
n.845C>G
n.1599C>G
c.2851C>G (p.Leu951Val)
c.2554C>G (p.Leu852Val)
c.772C>G (p.Leu258Val)
c.2362C>G (p.Leu788Val)
c.2086C>G (p.Leu696Val)
c.2350C>G (p.Leu784Val)
c.2548C>G (p.Leu850Val)
c.2953C>G (p.Leu985Val)
15g.22903842G=CA2163978085CYFIP1c.2446C= (p.Leu816=)
c.2452C= (p.Leu818=)
c.1159C= (p.Leu387=)
n.845C=
n.1599C=
c.2851C= (p.Leu951=)
c.2554C= (p.Leu852=)
c.772C= (p.Leu258=)
c.2362C= (p.Leu788=)
c.2086C= (p.Leu696=)
c.2350C= (p.Leu784=)
c.2548C= (p.Leu850=)
c.2953C= (p.Leu985=)
15g.22903842G>TCA391334669CYFIP1c.2446C>A (p.Leu816Met)
c.2452C>A (p.Leu818Met)
c.1159C>A (p.Leu387Met)
n.845C>A
n.1599C>A
c.2851C>A (p.Leu951Met)
c.2554C>A (p.Leu852Met)
c.772C>A (p.Leu258Met)
c.2362C>A (p.Leu788Met)
c.2086C>A (p.Leu696Met)
c.2350C>A (p.Leu784Met)
c.2548C>A (p.Leu850Met)
c.2953C>A (p.Leu985Met)
dbSNP gnomAD v2 gnomAD v4
15g.22903843C>ACA488526489CYFIP1c.2445G>T (p.Thr815=)
c.2451G>T (p.Thr817=)
c.1158G>T (p.Thr386=)
n.844G>T
n.1598G>T
c.2850G>T (p.Thr950=)
c.2553G>T (p.Thr851=)
c.771G>T (p.Thr257=)
c.2361G>T (p.Thr787=)
c.2085G>T (p.Thr695=)
c.2349G>T (p.Thr783=)
c.2547G>T (p.Thr849=)
c.2952G>T (p.Thr984=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.22903843C=CA2163978088CYFIP1c.2445G= (p.Thr815=)
c.2451G= (p.Thr817=)
c.1158G= (p.Thr386=)
n.844G=
n.1598G=
c.2850G= (p.Thr950=)
c.2553G= (p.Thr851=)
c.771G= (p.Thr257=)
c.2361G= (p.Thr787=)
c.2085G= (p.Thr695=)
c.2349G= (p.Thr783=)
c.2547G= (p.Thr849=)
c.2952G= (p.Thr984=)
15g.22903843C>GCA488526490CYFIP1c.2445G>C (p.Thr815=)
c.2451G>C (p.Thr817=)
c.1158G>C (p.Thr386=)
n.844G>C
n.1598G>C
c.2850G>C (p.Thr950=)
c.2553G>C (p.Thr851=)
c.771G>C (p.Thr257=)
c.2361G>C (p.Thr787=)
c.2085G>C (p.Thr695=)
c.2349G>C (p.Thr783=)
c.2547G>C (p.Thr849=)
c.2952G>C (p.Thr984=)
15g.22903843C>TCA7425102CYFIP1c.2445G>A (p.Thr815=)
c.2451G>A (p.Thr817=)
c.1158G>A (p.Thr386=)
n.844G>A
n.1598G>A
c.2850G>A (p.Thr950=)
c.2553G>A (p.Thr851=)
c.771G>A (p.Thr257=)
c.2361G>A (p.Thr787=)
c.2085G>A (p.Thr695=)
c.2349G>A (p.Thr783=)
c.2547G>A (p.Thr849=)
c.2952G>A (p.Thr984=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903844G>ACA7425101CYFIP1c.2444C>T (p.Thr815Met)
c.2450C>T (p.Thr817Met)
c.1157C>T (p.Thr386Met)
n.843C>T
n.1597C>T
c.2849C>T (p.Thr950Met)
c.2552C>T (p.Thr851Met)
c.770C>T (p.Thr257Met)
c.2360C>T (p.Thr787Met)
c.2084C>T (p.Thr695Met)
c.2348C>T (p.Thr783Met)
c.2546C>T (p.Thr849Met)
c.2951C>T (p.Thr984Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903844G>CCA391334673CYFIP1c.2444C>G (p.Thr815Arg)
c.2450C>G (p.Thr817Arg)
c.1157C>G (p.Thr386Arg)
n.843C>G
n.1597C>G
c.2849C>G (p.Thr950Arg)
c.2552C>G (p.Thr851Arg)
c.770C>G (p.Thr257Arg)
c.2360C>G (p.Thr787Arg)
c.2084C>G (p.Thr695Arg)
c.2348C>G (p.Thr783Arg)
c.2546C>G (p.Thr849Arg)
c.2951C>G (p.Thr984Arg)
15g.22903844G=CA2163978094CYFIP1c.2444C= (p.Thr815=)
c.2450C= (p.Thr817=)
c.1157C= (p.Thr386=)
n.843C=
n.1597C=
c.2849C= (p.Thr950=)
c.2552C= (p.Thr851=)
c.770C= (p.Thr257=)
c.2360C= (p.Thr787=)
c.2084C= (p.Thr695=)
c.2348C= (p.Thr783=)
c.2546C= (p.Thr849=)
c.2951C= (p.Thr984=)
15g.22903844G>TCA391334675CYFIP1c.2444C>A (p.Thr815Lys)
c.2450C>A (p.Thr817Lys)
c.1157C>A (p.Thr386Lys)
n.843C>A
n.1597C>A
c.2849C>A (p.Thr950Lys)
c.2552C>A (p.Thr851Lys)
c.770C>A (p.Thr257Lys)
c.2360C>A (p.Thr787Lys)
c.2084C>A (p.Thr695Lys)
c.2348C>A (p.Thr783Lys)
c.2546C>A (p.Thr849Lys)
c.2951C>A (p.Thr984Lys)
15g.22903845T>ACA391334677CYFIP1c.2443A>T (p.Thr815Ser)
c.2449A>T (p.Thr817Ser)
c.1156A>T (p.Thr386Ser)
n.842A>T
n.1596A>T
c.2848A>T (p.Thr950Ser)
c.2551A>T (p.Thr851Ser)
c.769A>T (p.Thr257Ser)
c.2359A>T (p.Thr787Ser)
c.2083A>T (p.Thr695Ser)
c.2347A>T (p.Thr783Ser)
c.2545A>T (p.Thr849Ser)
c.2950A>T (p.Thr984Ser)
dbSNP
15g.22903845T>CCA391334679CYFIP1c.2443A>G (p.Thr815Ala)
c.2449A>G (p.Thr817Ala)
c.1156A>G (p.Thr386Ala)
n.842A>G
n.1596A>G
c.2848A>G (p.Thr950Ala)
c.2551A>G (p.Thr851Ala)
c.769A>G (p.Thr257Ala)
c.2359A>G (p.Thr787Ala)
c.2083A>G (p.Thr695Ala)
c.2347A>G (p.Thr783Ala)
c.2545A>G (p.Thr849Ala)
c.2950A>G (p.Thr984Ala)
15g.22903845T>GCA391334680CYFIP1c.2443A>C (p.Thr815Pro)
c.2449A>C (p.Thr817Pro)
c.1156A>C (p.Thr386Pro)
n.842A>C
n.1596A>C
c.2848A>C (p.Thr950Pro)
c.2551A>C (p.Thr851Pro)
c.769A>C (p.Thr257Pro)
c.2359A>C (p.Thr787Pro)
c.2083A>C (p.Thr695Pro)
c.2347A>C (p.Thr783Pro)
c.2545A>C (p.Thr849Pro)
c.2950A>C (p.Thr984Pro)
dbSNP
15g.22903846C>ACA488526491CYFIP1c.2442G>T (p.Leu814=)
c.2448G>T (p.Leu816=)
c.1155G>T (p.Leu385=)
n.841G>T
n.1595G>T
c.2847G>T (p.Leu949=)
c.2550G>T (p.Leu850=)
c.768G>T (p.Leu256=)
c.2358G>T (p.Leu786=)
c.2082G>T (p.Leu694=)
c.2346G>T (p.Leu782=)
c.2544G>T (p.Leu848=)
c.2949G>T (p.Leu983=)
15g.22903846C=CA2163978097CYFIP1c.2442G= (p.Leu814=)
c.2448G= (p.Leu816=)
c.1155G= (p.Leu385=)
n.841G=
n.1595G=
c.2847G= (p.Leu949=)
c.2550G= (p.Leu850=)
c.768G= (p.Leu256=)
c.2358G= (p.Leu786=)
c.2082G= (p.Leu694=)
c.2346G= (p.Leu782=)
c.2544G= (p.Leu848=)
c.2949G= (p.Leu983=)
15g.22903846C>GCA267616566CYFIP1c.2442G>C (p.Leu814=)
c.2448G>C (p.Leu816=)
c.1155G>C (p.Leu385=)
n.841G>C
n.1595G>C
c.2847G>C (p.Leu949=)
c.2550G>C (p.Leu850=)
c.768G>C (p.Leu256=)
c.2358G>C (p.Leu786=)
c.2082G>C (p.Leu694=)
c.2346G>C (p.Leu782=)
c.2544G>C (p.Leu848=)
c.2949G>C (p.Leu983=)
dbSNP gnomAD v2 gnomAD v4
15g.22903846C>TCA267616573CYFIP1c.2442G>A (p.Leu814=)
c.2448G>A (p.Leu816=)
c.1155G>A (p.Leu385=)
n.841G>A
n.1595G>A
c.2847G>A (p.Leu949=)
c.2550G>A (p.Leu850=)
c.768G>A (p.Leu256=)
c.2358G>A (p.Leu786=)
c.2082G>A (p.Leu694=)
c.2346G>A (p.Leu782=)
c.2544G>A (p.Leu848=)
c.2949G>A (p.Leu983=)
dbSNP gnomAD v3 gnomAD v4
15g.22903847A>CCA391334685CYFIP1c.2441T>G (p.Leu814Arg)
c.2447T>G (p.Leu816Arg)
c.1154T>G (p.Leu385Arg)
n.840T>G
n.1594T>G
c.2846T>G (p.Leu949Arg)
c.2549T>G (p.Leu850Arg)
c.767T>G (p.Leu256Arg)
c.2357T>G (p.Leu786Arg)
c.2081T>G (p.Leu694Arg)
c.2345T>G (p.Leu782Arg)
c.2543T>G (p.Leu848Arg)
c.2948T>G (p.Leu983Arg)
15g.22903847A>GCA391334687CYFIP1c.2441T>C (p.Leu814Pro)
c.2447T>C (p.Leu816Pro)
c.1154T>C (p.Leu385Pro)
n.840T>C
n.1594T>C
c.2846T>C (p.Leu949Pro)
c.2549T>C (p.Leu850Pro)
c.767T>C (p.Leu256Pro)
c.2357T>C (p.Leu786Pro)
c.2081T>C (p.Leu694Pro)
c.2345T>C (p.Leu782Pro)
c.2543T>C (p.Leu848Pro)
c.2948T>C (p.Leu983Pro)
15g.22903847A>TCA391334684CYFIP1c.2441T>A (p.Leu814Gln)
c.2447T>A (p.Leu816Gln)
c.1154T>A (p.Leu385Gln)
n.840T>A
n.1594T>A
c.2846T>A (p.Leu949Gln)
c.2549T>A (p.Leu850Gln)
c.767T>A (p.Leu256Gln)
c.2357T>A (p.Leu786Gln)
c.2081T>A (p.Leu694Gln)
c.2345T>A (p.Leu782Gln)
c.2543T>A (p.Leu848Gln)
c.2948T>A (p.Leu983Gln)
15g.22903848G>ACA267616581CYFIP1c.2440C>T (p.Leu814=)
c.2446C>T (p.Leu816=)
c.1153C>T (p.Leu385=)
n.839C>T
n.1593C>T
c.2845C>T (p.Leu949=)
c.2548C>T (p.Leu850=)
c.766C>T (p.Leu256=)
c.2356C>T (p.Leu786=)
c.2080C>T (p.Leu694=)
c.2344C>T (p.Leu782=)
c.2542C>T (p.Leu848=)
c.2947C>T (p.Leu983=)
dbSNP
15g.22903848G>CCA391334690CYFIP1c.2440C>G (p.Leu814Val)
c.2446C>G (p.Leu816Val)
c.1153C>G (p.Leu385Val)
n.839C>G
n.1593C>G
c.2845C>G (p.Leu949Val)
c.2548C>G (p.Leu850Val)
c.766C>G (p.Leu256Val)
c.2356C>G (p.Leu786Val)
c.2080C>G (p.Leu694Val)
c.2344C>G (p.Leu782Val)
c.2542C>G (p.Leu848Val)
c.2947C>G (p.Leu983Val)
dbSNP gnomAD v2 gnomAD v4
15g.22903848G=CA2163978099CYFIP1c.2440C= (p.Leu814=)
c.2446C= (p.Leu816=)
c.1153C= (p.Leu385=)
n.839C=
n.1593C=
c.2845C= (p.Leu949=)
c.2548C= (p.Leu850=)
c.766C= (p.Leu256=)
c.2356C= (p.Leu786=)
c.2080C= (p.Leu694=)
c.2344C= (p.Leu782=)
c.2542C= (p.Leu848=)
c.2947C= (p.Leu983=)
15g.22903848G>TCA391334691CYFIP1c.2440C>A (p.Leu814Met)
c.2446C>A (p.Leu816Met)
c.1153C>A (p.Leu385Met)
n.839C>A
n.1593C>A
c.2845C>A (p.Leu949Met)
c.2548C>A (p.Leu850Met)
c.766C>A (p.Leu256Met)
c.2356C>A (p.Leu786Met)
c.2080C>A (p.Leu694Met)
c.2344C>A (p.Leu782Met)
c.2542C>A (p.Leu848Met)
c.2947C>A (p.Leu983Met)
15g.22903849G>ACA267616583CYFIP1c.2439C>T (p.Tyr813=)
c.2445C>T (p.Tyr815=)
c.1152C>T (p.Tyr384=)
n.838C>T
n.1592C>T
c.2844C>T (p.Tyr948=)
c.2547C>T (p.Tyr849=)
c.765C>T (p.Tyr255=)
c.2355C>T (p.Tyr785=)
c.2079C>T (p.Tyr693=)
c.2343C>T (p.Tyr781=)
c.2541C>T (p.Tyr847=)
c.2946C>T (p.Tyr982=)
dbSNP gnomAD v3 gnomAD v4
15g.22903849G>CCA391334692CYFIP1c.2439C>G (p.Tyr813Ter)
c.2445C>G (p.Tyr815Ter)
c.1152C>G (p.Tyr384Ter)
n.838C>G
n.1592C>G
c.2844C>G (p.Tyr948Ter)
c.2547C>G (p.Tyr849Ter)
c.765C>G (p.Tyr255Ter)
c.2355C>G (p.Tyr785Ter)
c.2079C>G (p.Tyr693Ter)
c.2343C>G (p.Tyr781Ter)
c.2541C>G (p.Tyr847Ter)
c.2946C>G (p.Tyr982Ter)
15g.22903849G=CA2163978102CYFIP1c.2439C= (p.Tyr813=)
c.2445C= (p.Tyr815=)
c.1152C= (p.Tyr384=)
n.838C=
n.1592C=
c.2844C= (p.Tyr948=)
c.2547C= (p.Tyr849=)
c.765C= (p.Tyr255=)
c.2355C= (p.Tyr785=)
c.2079C= (p.Tyr693=)
c.2343C= (p.Tyr781=)
c.2541C= (p.Tyr847=)
c.2946C= (p.Tyr982=)
15g.22903849G>TCA391334694CYFIP1c.2439C>A (p.Tyr813Ter)
c.2445C>A (p.Tyr815Ter)
c.1152C>A (p.Tyr384Ter)
n.838C>A
n.1592C>A
c.2844C>A (p.Tyr948Ter)
c.2547C>A (p.Tyr849Ter)
c.765C>A (p.Tyr255Ter)
c.2355C>A (p.Tyr785Ter)
c.2079C>A (p.Tyr693Ter)
c.2343C>A (p.Tyr781Ter)
c.2541C>A (p.Tyr847Ter)
c.2946C>A (p.Tyr982Ter)
15g.22903850T>ACA391334697CYFIP1c.2438A>T (p.Tyr813Phe)
c.2444A>T (p.Tyr815Phe)
c.1151A>T (p.Tyr384Phe)
n.837A>T
n.1591A>T
c.2843A>T (p.Tyr948Phe)
c.2546A>T (p.Tyr849Phe)
c.764A>T (p.Tyr255Phe)
c.2354A>T (p.Tyr785Phe)
c.2078A>T (p.Tyr693Phe)
c.2342A>T (p.Tyr781Phe)
c.2540A>T (p.Tyr847Phe)
c.2945A>T (p.Tyr982Phe)
15g.22903850T>CCA391334698CYFIP1c.2438A>G (p.Tyr813Cys)
c.2444A>G (p.Tyr815Cys)
c.1151A>G (p.Tyr384Cys)
n.837A>G
n.1591A>G
c.2843A>G (p.Tyr948Cys)
c.2546A>G (p.Tyr849Cys)
c.764A>G (p.Tyr255Cys)
c.2354A>G (p.Tyr785Cys)
c.2078A>G (p.Tyr693Cys)
c.2342A>G (p.Tyr781Cys)
c.2540A>G (p.Tyr847Cys)
c.2945A>G (p.Tyr982Cys)
15g.22903850T>GCA391334700CYFIP1c.2438A>C (p.Tyr813Ser)
c.2444A>C (p.Tyr815Ser)
c.1151A>C (p.Tyr384Ser)
n.837A>C
n.1591A>C
c.2843A>C (p.Tyr948Ser)
c.2546A>C (p.Tyr849Ser)
c.764A>C (p.Tyr255Ser)
c.2354A>C (p.Tyr785Ser)
c.2078A>C (p.Tyr693Ser)
c.2342A>C (p.Tyr781Ser)
c.2540A>C (p.Tyr847Ser)
c.2945A>C (p.Tyr982Ser)
15g.22903851A=CA2163978104CYFIP1c.2437T= (p.Tyr813=)
c.2443T= (p.Tyr815=)
c.1150T= (p.Tyr384=)
n.836T=
n.1590T=
c.2842T= (p.Tyr948=)
c.2545T= (p.Tyr849=)
c.763T= (p.Tyr255=)
c.2353T= (p.Tyr785=)
c.2077T= (p.Tyr693=)
c.2341T= (p.Tyr781=)
c.2539T= (p.Tyr847=)
c.2944T= (p.Tyr982=)
15g.22903851A>CCA7425100CYFIP1c.2437T>G (p.Tyr813Asp)
c.2443T>G (p.Tyr815Asp)
c.1150T>G (p.Tyr384Asp)
n.836T>G
n.1590T>G
c.2842T>G (p.Tyr948Asp)
c.2545T>G (p.Tyr849Asp)
c.763T>G (p.Tyr255Asp)
c.2353T>G (p.Tyr785Asp)
c.2077T>G (p.Tyr693Asp)
c.2341T>G (p.Tyr781Asp)
c.2539T>G (p.Tyr847Asp)
c.2944T>G (p.Tyr982Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903851A>GCA391334703CYFIP1c.2437T>C (p.Tyr813His)
c.2443T>C (p.Tyr815His)
c.1150T>C (p.Tyr384His)
n.836T>C
n.1590T>C
c.2842T>C (p.Tyr948His)
c.2545T>C (p.Tyr849His)
c.763T>C (p.Tyr255His)
c.2353T>C (p.Tyr785His)
c.2077T>C (p.Tyr693His)
c.2341T>C (p.Tyr781His)
c.2539T>C (p.Tyr847His)
c.2944T>C (p.Tyr982His)
gnomAD v4
15g.22903851A>TCA391334705CYFIP1c.2437T>A (p.Tyr813Asn)
c.2443T>A (p.Tyr815Asn)
c.1150T>A (p.Tyr384Asn)
n.836T>A
n.1590T>A
c.2842T>A (p.Tyr948Asn)
c.2545T>A (p.Tyr849Asn)
c.763T>A (p.Tyr255Asn)
c.2353T>A (p.Tyr785Asn)
c.2077T>A (p.Tyr693Asn)
c.2341T>A (p.Tyr781Asn)
c.2539T>A (p.Tyr847Asn)
c.2944T>A (p.Tyr982Asn)
15g.22903852C>ACA488526493CYFIP1c.2436G>T (p.Arg812=)
c.2442G>T (p.Arg814=)
c.1149G>T (p.Arg383=)
n.835G>T
n.1589G>T
c.2841G>T (p.Arg947=)
c.2544G>T (p.Arg848=)
c.762G>T (p.Arg254=)
c.2352G>T (p.Arg784=)
c.2076G>T (p.Arg692=)
c.2340G>T (p.Arg780=)
c.2538G>T (p.Arg846=)
c.2943G>T (p.Arg981=)
15g.22903852C=CA2163978108CYFIP1c.2436G= (p.Arg812=)
c.2442G= (p.Arg814=)
c.1149G= (p.Arg383=)
n.835G=
n.1589G=
c.2841G= (p.Arg947=)
c.2544G= (p.Arg848=)
c.762G= (p.Arg254=)
c.2352G= (p.Arg784=)
c.2076G= (p.Arg692=)
c.2340G= (p.Arg780=)
c.2538G= (p.Arg846=)
c.2943G= (p.Arg981=)
15g.22903852C>GCA488526494CYFIP1c.2436G>C (p.Arg812=)
c.2442G>C (p.Arg814=)
c.1149G>C (p.Arg383=)
n.835G>C
n.1589G>C
c.2841G>C (p.Arg947=)
c.2544G>C (p.Arg848=)
c.762G>C (p.Arg254=)
c.2352G>C (p.Arg784=)
c.2076G>C (p.Arg692=)
c.2340G>C (p.Arg780=)
c.2538G>C (p.Arg846=)
c.2943G>C (p.Arg981=)
15g.22903852C>TCA488526492CYFIP1c.2436G>A (p.Arg812=)
c.2442G>A (p.Arg814=)
c.1149G>A (p.Arg383=)
n.835G>A
n.1589G>A
c.2841G>A (p.Arg947=)
c.2544G>A (p.Arg848=)
c.762G>A (p.Arg254=)
c.2352G>A (p.Arg784=)
c.2076G>A (p.Arg692=)
c.2340G>A (p.Arg780=)
c.2538G>A (p.Arg846=)
c.2943G>A (p.Arg981=)
dbSNP gnomAD v3 gnomAD v4
15g.22903853C>ACA391334706CYFIP1c.2435G>T (p.Arg812Leu)
c.2441G>T (p.Arg814Leu)
c.1148G>T (p.Arg383Leu)
n.834G>T
n.1588G>T
c.2840G>T (p.Arg947Leu)
c.2543G>T (p.Arg848Leu)
c.761G>T (p.Arg254Leu)
c.2351G>T (p.Arg784Leu)
c.2075G>T (p.Arg692Leu)
c.2339G>T (p.Arg780Leu)
c.2537G>T (p.Arg846Leu)
c.2942G>T (p.Arg981Leu)
15g.22903853C=CA2163978111CYFIP1c.2435G= (p.Arg812=)
c.2441G= (p.Arg814=)
c.1148G= (p.Arg383=)
n.834G=
n.1588G=
c.2840G= (p.Arg947=)
c.2543G= (p.Arg848=)
c.761G= (p.Arg254=)
c.2351G= (p.Arg784=)
c.2075G= (p.Arg692=)
c.2339G= (p.Arg780=)
c.2537G= (p.Arg846=)
c.2942G= (p.Arg981=)
15g.22903853C>GCA391334708CYFIP1c.2435G>C (p.Arg812Pro)
c.2441G>C (p.Arg814Pro)
c.1148G>C (p.Arg383Pro)
n.834G>C
n.1588G>C
c.2840G>C (p.Arg947Pro)
c.2543G>C (p.Arg848Pro)
c.761G>C (p.Arg254Pro)
c.2351G>C (p.Arg784Pro)
c.2075G>C (p.Arg692Pro)
c.2339G>C (p.Arg780Pro)
c.2537G>C (p.Arg846Pro)
c.2942G>C (p.Arg981Pro)
15g.22903853C>TCA7425099CYFIP1c.2435G>A (p.Arg812Gln)
c.2441G>A (p.Arg814Gln)
c.1148G>A (p.Arg383Gln)
n.834G>A
n.1588G>A
c.2840G>A (p.Arg947Gln)
c.2543G>A (p.Arg848Gln)
c.761G>A (p.Arg254Gln)
c.2351G>A (p.Arg784Gln)
c.2075G>A (p.Arg692Gln)
c.2339G>A (p.Arg780Gln)
c.2537G>A (p.Arg846Gln)
c.2942G>A (p.Arg981Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903854G>ACA7425098CYFIP1c.2434C>T (p.Arg812Trp)
c.2440C>T (p.Arg814Trp)
c.1147C>T (p.Arg383Trp)
n.833C>T
n.1587C>T
c.2839C>T (p.Arg947Trp)
c.2542C>T (p.Arg848Trp)
c.760C>T (p.Arg254Trp)
c.2350C>T (p.Arg784Trp)
c.2074C>T (p.Arg692Trp)
c.2338C>T (p.Arg780Trp)
c.2536C>T (p.Arg846Trp)
c.2941C>T (p.Arg981Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.22903854G>CCA391334712CYFIP1c.2434C>G (p.Arg812Gly)
c.2440C>G (p.Arg814Gly)
c.1147C>G (p.Arg383Gly)
n.833C>G
n.1587C>G
c.2839C>G (p.Arg947Gly)
c.2542C>G (p.Arg848Gly)
c.760C>G (p.Arg254Gly)
c.2350C>G (p.Arg784Gly)
c.2074C>G (p.Arg692Gly)
c.2338C>G (p.Arg780Gly)
c.2536C>G (p.Arg846Gly)
c.2941C>G (p.Arg981Gly)
gnomAD v4
15g.22903854G=CA2163978115CYFIP1c.2434C= (p.Arg812=)
c.2440C= (p.Arg814=)
c.1147C= (p.Arg383=)
n.833C=
n.1587C=
c.2839C= (p.Arg947=)
c.2542C= (p.Arg848=)
c.760C= (p.Arg254=)
c.2350C= (p.Arg784=)
c.2074C= (p.Arg692=)
c.2338C= (p.Arg780=)
c.2536C= (p.Arg846=)
c.2941C= (p.Arg981=)
15g.22903854G>TCA488526495CYFIP1c.2434C>A (p.Arg812=)
c.2440C>A (p.Arg814=)
c.1147C>A (p.Arg383=)
n.833C>A
n.1587C>A
c.2839C>A (p.Arg947=)
c.2542C>A (p.Arg848=)
c.760C>A (p.Arg254=)
c.2350C>A (p.Arg784=)
c.2074C>A (p.Arg692=)
c.2338C>A (p.Arg780=)
c.2536C>A (p.Arg846=)
c.2941C>A (p.Arg981=)
15g.22903855G>ACA488526496CYFIP1c.2433C>T (p.Ser811=)
c.2439C>T (p.Ser813=)
c.1146C>T (p.Ser382=)
n.832C>T
n.1586C>T
c.2838C>T (p.Ser946=)
c.2541C>T (p.Ser847=)
c.759C>T (p.Ser253=)
c.2349C>T (p.Ser783=)
c.2073C>T (p.Ser691=)
c.2337C>T (p.Ser779=)
c.2535C>T (p.Ser845=)
c.2940C>T (p.Ser980=)
dbSNP
15g.22903855G>CCA391334714CYFIP1c.2433C>G (p.Ser811Arg)
c.2439C>G (p.Ser813Arg)
c.1146C>G (p.Ser382Arg)
n.832C>G
n.1586C>G
c.2838C>G (p.Ser946Arg)
c.2541C>G (p.Ser847Arg)
c.759C>G (p.Ser253Arg)
c.2349C>G (p.Ser783Arg)
c.2073C>G (p.Ser691Arg)
c.2337C>G (p.Ser779Arg)
c.2535C>G (p.Ser845Arg)
c.2940C>G (p.Ser980Arg)
15g.22903855G=CA2163978120CYFIP1c.2433C= (p.Ser811=)
c.2439C= (p.Ser813=)
c.1146C= (p.Ser382=)
n.832C=
n.1586C=
c.2838C= (p.Ser946=)
c.2541C= (p.Ser847=)
c.759C= (p.Ser253=)
c.2349C= (p.Ser783=)
c.2073C= (p.Ser691=)
c.2337C= (p.Ser779=)
c.2535C= (p.Ser845=)
c.2940C= (p.Ser980=)
15g.22903855G>TCA7425097CYFIP1c.2433C>A (p.Ser811Arg)
c.2439C>A (p.Ser813Arg)
c.1146C>A (p.Ser382Arg)
n.832C>A
n.1586C>A
c.2838C>A (p.Ser946Arg)
c.2541C>A (p.Ser847Arg)
c.759C>A (p.Ser253Arg)
c.2349C>A (p.Ser783Arg)
c.2073C>A (p.Ser691Arg)
c.2337C>A (p.Ser779Arg)
c.2535C>A (p.Ser845Arg)
c.2940C>A (p.Ser980Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903856C>ACA391334716CYFIP1c.2432G>T (p.Ser811Ile)
c.2438G>T (p.Ser813Ile)
c.1145G>T (p.Ser382Ile)
n.831G>T
n.1585G>T
c.2837G>T (p.Ser946Ile)
c.2540G>T (p.Ser847Ile)
c.758G>T (p.Ser253Ile)
c.2348G>T (p.Ser783Ile)
c.2072G>T (p.Ser691Ile)
c.2336G>T (p.Ser779Ile)
c.2534G>T (p.Ser845Ile)
c.2939G>T (p.Ser980Ile)
15g.22903856C=CA2163978124CYFIP1c.2432G= (p.Ser811=)
c.2438G= (p.Ser813=)
c.1145G= (p.Ser382=)
n.831G=
n.1585G=
c.2837G= (p.Ser946=)
c.2540G= (p.Ser847=)
c.758G= (p.Ser253=)
c.2348G= (p.Ser783=)
c.2072G= (p.Ser691=)
c.2336G= (p.Ser779=)
c.2534G= (p.Ser845=)
c.2939G= (p.Ser980=)
15g.22903856C>GCA391334718CYFIP1c.2432G>C (p.Ser811Thr)
c.2438G>C (p.Ser813Thr)
c.1145G>C (p.Ser382Thr)
n.831G>C
n.1585G>C
c.2837G>C (p.Ser946Thr)
c.2540G>C (p.Ser847Thr)
c.758G>C (p.Ser253Thr)
c.2348G>C (p.Ser783Thr)
c.2072G>C (p.Ser691Thr)
c.2336G>C (p.Ser779Thr)
c.2534G>C (p.Ser845Thr)
c.2939G>C (p.Ser980Thr)
15g.22903856C>TCA391334720CYFIP1c.2432G>A (p.Ser811Asn)
c.2438G>A (p.Ser813Asn)
c.1145G>A (p.Ser382Asn)
n.831G>A
n.1585G>A
c.2837G>A (p.Ser946Asn)
c.2540G>A (p.Ser847Asn)
c.758G>A (p.Ser253Asn)
c.2348G>A (p.Ser783Asn)
c.2072G>A (p.Ser691Asn)
c.2336G>A (p.Ser779Asn)
c.2534G>A (p.Ser845Asn)
c.2939G>A (p.Ser980Asn)
dbSNP gnomAD v3 gnomAD v4
15g.22903857T>ACA391334722CYFIP1c.2431A>T (p.Ser811Cys)
c.2437A>T (p.Ser813Cys)
c.1144A>T (p.Ser382Cys)
n.830A>T
n.1584A>T
c.2836A>T (p.Ser946Cys)
c.2539A>T (p.Ser847Cys)
c.757A>T (p.Ser253Cys)
c.2347A>T (p.Ser783Cys)
c.2071A>T (p.Ser691Cys)
c.2335A>T (p.Ser779Cys)
c.2533A>T (p.Ser845Cys)
c.2938A>T (p.Ser980Cys)
15g.22903857T>CCA391334723CYFIP1c.2431A>G (p.Ser811Gly)
c.2437A>G (p.Ser813Gly)
c.1144A>G (p.Ser382Gly)
n.830A>G
n.1584A>G
c.2836A>G (p.Ser946Gly)
c.2539A>G (p.Ser847Gly)
c.757A>G (p.Ser253Gly)
c.2347A>G (p.Ser783Gly)
c.2071A>G (p.Ser691Gly)
c.2335A>G (p.Ser779Gly)
c.2533A>G (p.Ser845Gly)
c.2938A>G (p.Ser980Gly)
15g.22903857T>GCA391334725CYFIP1c.2431A>C (p.Ser811Arg)
c.2437A>C (p.Ser813Arg)
c.1144A>C (p.Ser382Arg)
n.830A>C
n.1584A>C
c.2836A>C (p.Ser946Arg)
c.2539A>C (p.Ser847Arg)
c.757A>C (p.Ser253Arg)
c.2347A>C (p.Ser783Arg)
c.2071A>C (p.Ser691Arg)
c.2335A>C (p.Ser779Arg)
c.2533A>C (p.Ser845Arg)
c.2938A>C (p.Ser980Arg)
15g.22903858C>ACA488526497CYFIP1c.2430G>T (p.Leu810=)
c.2436G>T (p.Leu812=)
c.1143G>T (p.Leu381=)
n.829G>T
n.1583G>T
c.2835G>T (p.Leu945=)
c.2538G>T (p.Leu846=)
c.756G>T (p.Leu252=)
c.2346G>T (p.Leu782=)
c.2070G>T (p.Leu690=)
c.2334G>T (p.Leu778=)
c.2532G>T (p.Leu844=)
c.2937G>T (p.Leu979=)
15g.22903858C=CA2163978126CYFIP1c.2430G= (p.Leu810=)
c.2436G= (p.Leu812=)
c.1143G= (p.Leu381=)
n.829G=
n.1583G=
c.2835G= (p.Leu945=)
c.2538G= (p.Leu846=)
c.756G= (p.Leu252=)
c.2346G= (p.Leu782=)
c.2070G= (p.Leu690=)
c.2334G= (p.Leu778=)
c.2532G= (p.Leu844=)
c.2937G= (p.Leu979=)
15g.22903858C>GCA488526498CYFIP1c.2430G>C (p.Leu810=)
c.2436G>C (p.Leu812=)
c.1143G>C (p.Leu381=)
n.829G>C
n.1583G>C
c.2835G>C (p.Leu945=)
c.2538G>C (p.Leu846=)
c.756G>C (p.Leu252=)
c.2346G>C (p.Leu782=)
c.2070G>C (p.Leu690=)
c.2334G>C (p.Leu778=)
c.2532G>C (p.Leu844=)
c.2937G>C (p.Leu979=)
15g.22903858C>TCA488526499CYFIP1c.2430G>A (p.Leu810=)
c.2436G>A (p.Leu812=)
c.1143G>A (p.Leu381=)
n.829G>A
n.1583G>A
c.2835G>A (p.Leu945=)
c.2538G>A (p.Leu846=)
c.756G>A (p.Leu252=)
c.2346G>A (p.Leu782=)
c.2070G>A (p.Leu690=)
c.2334G>A (p.Leu778=)
c.2532G>A (p.Leu844=)
c.2937G>A (p.Leu979=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.22903859A>CCA391334728CYFIP1c.2429T>G (p.Leu810Arg)
c.2435T>G (p.Leu812Arg)
c.1142T>G (p.Leu381Arg)
n.828T>G
n.1582T>G
c.2834T>G (p.Leu945Arg)
c.2537T>G (p.Leu846Arg)
c.755T>G (p.Leu252Arg)
c.2345T>G (p.Leu782Arg)
c.2069T>G (p.Leu690Arg)
c.2333T>G (p.Leu778Arg)
c.2531T>G (p.Leu844Arg)
c.2936T>G (p.Leu979Arg)
15g.22903859A>GCA391334729CYFIP1c.2429T>C (p.Leu810Pro)
c.2435T>C (p.Leu812Pro)
c.1142T>C (p.Leu381Pro)
n.828T>C
n.1582T>C
c.2834T>C (p.Leu945Pro)
c.2537T>C (p.Leu846Pro)
c.755T>C (p.Leu252Pro)
c.2345T>C (p.Leu782Pro)
c.2069T>C (p.Leu690Pro)
c.2333T>C (p.Leu778Pro)
c.2531T>C (p.Leu844Pro)
c.2936T>C (p.Leu979Pro)
15g.22903859A>TCA391334731CYFIP1c.2429T>A (p.Leu810Gln)
c.2435T>A (p.Leu812Gln)
c.1142T>A (p.Leu381Gln)
n.828T>A
n.1582T>A
c.2834T>A (p.Leu945Gln)
c.2537T>A (p.Leu846Gln)
c.755T>A (p.Leu252Gln)
c.2345T>A (p.Leu782Gln)
c.2069T>A (p.Leu690Gln)
c.2333T>A (p.Leu778Gln)
c.2531T>A (p.Leu844Gln)
c.2936T>A (p.Leu979Gln)
15g.22903860G>ACA488526500CYFIP1c.2428C>T (p.Leu810=)
c.2434C>T (p.Leu812=)
c.1141C>T (p.Leu381=)
n.827C>T
n.1581C>T
c.2833C>T (p.Leu945=)
c.2536C>T (p.Leu846=)
c.754C>T (p.Leu252=)
c.2344C>T (p.Leu782=)
c.2068C>T (p.Leu690=)
c.2332C>T (p.Leu778=)
c.2530C>T (p.Leu844=)
c.2935C>T (p.Leu979=)
15g.22903860G>CCA267616613CYFIP1c.2428C>G (p.Leu810Val)
c.2434C>G (p.Leu812Val)
c.1141C>G (p.Leu381Val)
n.827C>G
n.1581C>G
c.2833C>G (p.Leu945Val)
c.2536C>G (p.Leu846Val)
c.754C>G (p.Leu252Val)
c.2344C>G (p.Leu782Val)
c.2068C>G (p.Leu690Val)
c.2332C>G (p.Leu778Val)
c.2530C>G (p.Leu844Val)
c.2935C>G (p.Leu979Val)
dbSNP gnomAD v4
15g.22903860G=CA2163978130CYFIP1c.2428C= (p.Leu810=)
c.2434C= (p.Leu812=)
c.1141C= (p.Leu381=)
n.827C=
n.1581C=
c.2833C= (p.Leu945=)
c.2536C= (p.Leu846=)
c.754C= (p.Leu252=)
c.2344C= (p.Leu782=)
c.2068C= (p.Leu690=)
c.2332C= (p.Leu778=)
c.2530C= (p.Leu844=)
c.2935C= (p.Leu979=)
15g.22903860G>TCA391334734CYFIP1c.2428C>A (p.Leu810Met)
c.2434C>A (p.Leu812Met)
c.1141C>A (p.Leu381Met)
n.827C>A
n.1581C>A
c.2833C>A (p.Leu945Met)
c.2536C>A (p.Leu846Met)
c.754C>A (p.Leu252Met)
c.2344C>A (p.Leu782Met)
c.2068C>A (p.Leu690Met)
c.2332C>A (p.Leu778Met)
c.2530C>A (p.Leu844Met)
c.2935C>A (p.Leu979Met)
15g.22903861C>ACA488526501CYFIP1c.2427G>T (p.Leu809=)
c.2433G>T (p.Leu811=)
c.1140G>T (p.Leu380=)
n.826G>T
n.1580G>T
c.2832G>T (p.Leu944=)
c.2535G>T (p.Leu845=)
c.753G>T (p.Leu251=)
c.2343G>T (p.Leu781=)
c.2067G>T (p.Leu689=)
c.2331G>T (p.Leu777=)
c.2529G>T (p.Leu843=)
c.2934G>T (p.Leu978=)
15g.22903861C>GCA488526502CYFIP1c.2427G>C (p.Leu809=)
c.2433G>C (p.Leu811=)
c.1140G>C (p.Leu380=)
n.826G>C
n.1580G>C
c.2832G>C (p.Leu944=)
c.2535G>C (p.Leu845=)
c.753G>C (p.Leu251=)
c.2343G>C (p.Leu781=)
c.2067G>C (p.Leu689=)
c.2331G>C (p.Leu777=)
c.2529G>C (p.Leu843=)
c.2934G>C (p.Leu978=)
15g.22903861C>TCA488526503CYFIP1c.2427G>A (p.Leu809=)
c.2433G>A (p.Leu811=)
c.1140G>A (p.Leu380=)
n.826G>A
n.1580G>A
c.2832G>A (p.Leu944=)
c.2535G>A (p.Leu845=)
c.753G>A (p.Leu251=)
c.2343G>A (p.Leu781=)
c.2067G>A (p.Leu689=)
c.2331G>A (p.Leu777=)
c.2529G>A (p.Leu843=)
c.2934G>A (p.Leu978=)
15g.22903862A>CCA391334738CYFIP1c.2426T>G (p.Leu809Arg)
c.2432T>G (p.Leu811Arg)
c.1139T>G (p.Leu380Arg)
n.825T>G
n.1579T>G
c.2831T>G (p.Leu944Arg)
c.2534T>G (p.Leu845Arg)
c.752T>G (p.Leu251Arg)
c.2342T>G (p.Leu781Arg)
c.2066T>G (p.Leu689Arg)
c.2330T>G (p.Leu777Arg)
c.2528T>G (p.Leu843Arg)
c.2933T>G (p.Leu978Arg)
15g.22903862A>GCA391334740CYFIP1c.2426T>C (p.Leu809Pro)
c.2432T>C (p.Leu811Pro)
c.1139T>C (p.Leu380Pro)
n.825T>C
n.1579T>C
c.2831T>C (p.Leu944Pro)
c.2534T>C (p.Leu845Pro)
c.752T>C (p.Leu251Pro)
c.2342T>C (p.Leu781Pro)
c.2066T>C (p.Leu689Pro)
c.2330T>C (p.Leu777Pro)
c.2528T>C (p.Leu843Pro)
c.2933T>C (p.Leu978Pro)
15g.22903862A>TCA391334736CYFIP1c.2426T>A (p.Leu809Gln)
c.2432T>A (p.Leu811Gln)
c.1139T>A (p.Leu380Gln)
n.825T>A
n.1579T>A
c.2831T>A (p.Leu944Gln)
c.2534T>A (p.Leu845Gln)
c.752T>A (p.Leu251Gln)
c.2342T>A (p.Leu781Gln)
c.2066T>A (p.Leu689Gln)
c.2330T>A (p.Leu777Gln)
c.2528T>A (p.Leu843Gln)
c.2933T>A (p.Leu978Gln)
15g.22903863G>ACA488526504CYFIP1c.2425C>T (p.Leu809=)
c.2431C>T (p.Leu811=)
c.1138C>T (p.Leu380=)
n.824C>T
n.1578C>T
c.2830C>T (p.Leu944=)
c.2533C>T (p.Leu845=)
c.751C>T (p.Leu251=)
c.2341C>T (p.Leu781=)
c.2065C>T (p.Leu689=)
c.2329C>T (p.Leu777=)
c.2527C>T (p.Leu843=)
c.2932C>T (p.Leu978=)
15g.22903863G>CCA391334744CYFIP1c.2425C>G (p.Leu809Val)
c.2431C>G (p.Leu811Val)
c.1138C>G (p.Leu380Val)
n.824C>G
n.1578C>G
c.2830C>G (p.Leu944Val)
c.2533C>G (p.Leu845Val)
c.751C>G (p.Leu251Val)
c.2341C>G (p.Leu781Val)
c.2065C>G (p.Leu689Val)
c.2329C>G (p.Leu777Val)
c.2527C>G (p.Leu843Val)
c.2932C>G (p.Leu978Val)
15g.22903863G>TCA391334742CYFIP1c.2425C>A (p.Leu809Met)
c.2431C>A (p.Leu811Met)
c.1138C>A (p.Leu380Met)
n.824C>A
n.1578C>A
c.2830C>A (p.Leu944Met)
c.2533C>A (p.Leu845Met)
c.751C>A (p.Leu251Met)
c.2341C>A (p.Leu781Met)
c.2065C>A (p.Leu689Met)
c.2329C>A (p.Leu777Met)
c.2527C>A (p.Leu843Met)
c.2932C>A (p.Leu978Met)
15g.22903864C>ACA391334747CYFIP1c.2424G>T (p.Lys808Asn)
c.2430G>T (p.Lys810Asn)
c.1137G>T (p.Lys379Asn)
n.823G>T
n.1577G>T
c.2829G>T (p.Lys943Asn)
c.2532G>T (p.Lys844Asn)
c.750G>T (p.Lys250Asn)
c.2340G>T (p.Lys780Asn)
c.2064G>T (p.Lys688Asn)
c.2328G>T (p.Lys776Asn)
c.2526G>T (p.Lys842Asn)
c.2931G>T (p.Lys977Asn)
15g.22903864C>GCA391334746CYFIP1c.2424G>C (p.Lys808Asn)
c.2430G>C (p.Lys810Asn)
c.1137G>C (p.Lys379Asn)
n.823G>C
n.1577G>C
c.2829G>C (p.Lys943Asn)
c.2532G>C (p.Lys844Asn)
c.750G>C (p.Lys250Asn)
c.2340G>C (p.Lys780Asn)
c.2064G>C (p.Lys688Asn)
c.2328G>C (p.Lys776Asn)
c.2526G>C (p.Lys842Asn)
c.2931G>C (p.Lys977Asn)
15g.22903864C>TCA488526505CYFIP1c.2424G>A (p.Lys808=)
c.2430G>A (p.Lys810=)
c.1137G>A (p.Lys379=)
n.823G>A
n.1577G>A
c.2829G>A (p.Lys943=)
c.2532G>A (p.Lys844=)
c.750G>A (p.Lys250=)
c.2340G>A (p.Lys780=)
c.2064G>A (p.Lys688=)
c.2328G>A (p.Lys776=)
c.2526G>A (p.Lys842=)
c.2931G>A (p.Lys977=)
15g.22903865T>ACA391334750CYFIP1c.2423A>T (p.Lys808Met)
c.2429A>T (p.Lys810Met)
c.1136A>T (p.Lys379Met)
n.822A>T
n.1576A>T
c.2828A>T (p.Lys943Met)
c.2531A>T (p.Lys844Met)
c.749A>T (p.Lys250Met)
c.2339A>T (p.Lys780Met)
c.2063A>T (p.Lys688Met)
c.2327A>T (p.Lys776Met)
c.2525A>T (p.Lys842Met)
c.2930A>T (p.Lys977Met)
gnomAD v4
15g.22903865T>CCA391334752CYFIP1c.2423A>G (p.Lys808Arg)
c.2429A>G (p.Lys810Arg)
c.1136A>G (p.Lys379Arg)
n.822A>G
n.1576A>G
c.2828A>G (p.Lys943Arg)
c.2531A>G (p.Lys844Arg)
c.749A>G (p.Lys250Arg)
c.2339A>G (p.Lys780Arg)
c.2063A>G (p.Lys688Arg)
c.2327A>G (p.Lys776Arg)
c.2525A>G (p.Lys842Arg)
c.2930A>G (p.Lys977Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.22903865T>GCA391334753CYFIP1c.2423A>C (p.Lys808Thr)
c.2429A>C (p.Lys810Thr)
c.1136A>C (p.Lys379Thr)
n.822A>C
n.1576A>C
c.2828A>C (p.Lys943Thr)
c.2531A>C (p.Lys844Thr)
c.749A>C (p.Lys250Thr)
c.2339A>C (p.Lys780Thr)
c.2063A>C (p.Lys688Thr)
c.2327A>C (p.Lys776Thr)
c.2525A>C (p.Lys842Thr)
c.2930A>C (p.Lys977Thr)
15g.22903865T=CA2163978132CYFIP1c.2423A= (p.Lys808=)
c.2429A= (p.Lys810=)
c.1136A= (p.Lys379=)
n.822A=
n.1576A=
c.2828A= (p.Lys943=)
c.2531A= (p.Lys844=)
c.749A= (p.Lys250=)
c.2339A= (p.Lys780=)
c.2063A= (p.Lys688=)
c.2327A= (p.Lys776=)
c.2525A= (p.Lys842=)
c.2930A= (p.Lys977=)
15g.22903866T>ACA391334755CYFIP1c.2422A>T (p.Lys808Ter)
c.2428A>T (p.Lys810Ter)
c.1135A>T (p.Lys379Ter)
n.821A>T
n.1575A>T
c.2827A>T (p.Lys943Ter)
c.2530A>T (p.Lys844Ter)
c.748A>T (p.Lys250Ter)
c.2338A>T (p.Lys780Ter)
c.2062A>T (p.Lys688Ter)
c.2326A>T (p.Lys776Ter)
c.2524A>T (p.Lys842Ter)
c.2929A>T (p.Lys977Ter)
15g.22903866T>CCA7425096CYFIP1c.2422A>G (p.Lys808Glu)
c.2428A>G (p.Lys810Glu)
c.1135A>G (p.Lys379Glu)
n.821A>G
n.1575A>G
c.2827A>G (p.Lys943Glu)
c.2530A>G (p.Lys844Glu)
c.748A>G (p.Lys250Glu)
c.2338A>G (p.Lys780Glu)
c.2062A>G (p.Lys688Glu)
c.2326A>G (p.Lys776Glu)
c.2524A>G (p.Lys842Glu)
c.2929A>G (p.Lys977Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903866T>GCA391334758CYFIP1c.2422A>C (p.Lys808Gln)
c.2428A>C (p.Lys810Gln)
c.1135A>C (p.Lys379Gln)
n.821A>C
n.1575A>C
c.2827A>C (p.Lys943Gln)
c.2530A>C (p.Lys844Gln)
c.748A>C (p.Lys250Gln)
c.2338A>C (p.Lys780Gln)
c.2062A>C (p.Lys688Gln)
c.2326A>C (p.Lys776Gln)
c.2524A>C (p.Lys842Gln)
c.2929A>C (p.Lys977Gln)
15g.22903866T=CA2163978134CYFIP1c.2422A= (p.Lys808=)
c.2428A= (p.Lys810=)
c.1135A= (p.Lys379=)
n.821A=
n.1575A=
c.2827A= (p.Lys943=)
c.2530A= (p.Lys844=)
c.748A= (p.Lys250=)
c.2338A= (p.Lys780=)
c.2062A= (p.Lys688=)
c.2326A= (p.Lys776=)
c.2524A= (p.Lys842=)
c.2929A= (p.Lys977=)
15g.22903867G>ACA488526506CYFIP1c.2421C>T (p.His807=)
c.2427C>T (p.His809=)
c.1134C>T (p.His378=)
n.820C>T
n.1574C>T
c.2826C>T (p.His942=)
c.2529C>T (p.His843=)
c.747C>T (p.His249=)
c.2337C>T (p.His779=)
c.2061C>T (p.His687=)
c.2325C>T (p.His775=)
c.2523C>T (p.His841=)
c.2928C>T (p.His976=)
15g.22903867G>CCA391334762CYFIP1c.2421C>G (p.His807Gln)
c.2427C>G (p.His809Gln)
c.1134C>G (p.His378Gln)
n.820C>G
n.1574C>G
c.2826C>G (p.His942Gln)
c.2529C>G (p.His843Gln)
c.747C>G (p.His249Gln)
c.2337C>G (p.His779Gln)
c.2061C>G (p.His687Gln)
c.2325C>G (p.His775Gln)
c.2523C>G (p.His841Gln)
c.2928C>G (p.His976Gln)
15g.22903867G>TCA391334760CYFIP1c.2421C>A (p.His807Gln)
c.2427C>A (p.His809Gln)
c.1134C>A (p.His378Gln)
n.820C>A
n.1574C>A
c.2826C>A (p.His942Gln)
c.2529C>A (p.His843Gln)
c.747C>A (p.His249Gln)
c.2337C>A (p.His779Gln)
c.2061C>A (p.His687Gln)
c.2325C>A (p.His775Gln)
c.2523C>A (p.His841Gln)
c.2928C>A (p.His976Gln)
gnomAD v4
15g.22903868T>ACA391334764CYFIP1c.2420A>T (p.His807Leu)
c.2426A>T (p.His809Leu)
c.1133A>T (p.His378Leu)
n.819A>T
n.1573A>T
c.2825A>T (p.His942Leu)
c.2528A>T (p.His843Leu)
c.746A>T (p.His249Leu)
c.2336A>T (p.His779Leu)
c.2060A>T (p.His687Leu)
c.2324A>T (p.His775Leu)
c.2522A>T (p.His841Leu)
c.2927A>T (p.His976Leu)
dbSNP gnomAD v4
15g.22903868T>CCA7425095CYFIP1c.2420A>G (p.His807Arg)
c.2426A>G (p.His809Arg)
c.1133A>G (p.His378Arg)
n.819A>G
n.1573A>G
c.2825A>G (p.His942Arg)
c.2528A>G (p.His843Arg)
c.746A>G (p.His249Arg)
c.2336A>G (p.His779Arg)
c.2060A>G (p.His687Arg)
c.2324A>G (p.His775Arg)
c.2522A>G (p.His841Arg)
c.2927A>G (p.His976Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903868T>GCA391334767CYFIP1c.2420A>C (p.His807Pro)
c.2426A>C (p.His809Pro)
c.1133A>C (p.His378Pro)
n.819A>C
n.1573A>C
c.2825A>C (p.His942Pro)
c.2528A>C (p.His843Pro)
c.746A>C (p.His249Pro)
c.2336A>C (p.His779Pro)
c.2060A>C (p.His687Pro)
c.2324A>C (p.His775Pro)
c.2522A>C (p.His841Pro)
c.2927A>C (p.His976Pro)
dbSNP
15g.22903868T=CA2163978137CYFIP1c.2420A= (p.His807=)
c.2426A= (p.His809=)
c.1133A= (p.His378=)
n.819A=
n.1573A=
c.2825A= (p.His942=)
c.2528A= (p.His843=)
c.746A= (p.His249=)
c.2336A= (p.His779=)
c.2060A= (p.His687=)
c.2324A= (p.His775=)
c.2522A= (p.His841=)
c.2927A= (p.His976=)
15g.22903869G>ACA391334769CYFIP1c.2419C>T (p.His807Tyr)
c.2425C>T (p.His809Tyr)
c.1132C>T (p.His378Tyr)
n.818C>T
n.1572C>T
c.2824C>T (p.His942Tyr)
c.2527C>T (p.His843Tyr)
c.745C>T (p.His249Tyr)
c.2335C>T (p.His779Tyr)
c.2059C>T (p.His687Tyr)
c.2323C>T (p.His775Tyr)
c.2521C>T (p.His841Tyr)
c.2926C>T (p.His976Tyr)
dbSNP gnomAD v2 gnomAD v4
15g.22903869G>CCA391334770CYFIP1c.2419C>G (p.His807Asp)
c.2425C>G (p.His809Asp)
c.1132C>G (p.His378Asp)
n.818C>G
n.1572C>G
c.2824C>G (p.His942Asp)
c.2527C>G (p.His843Asp)
c.745C>G (p.His249Asp)
c.2335C>G (p.His779Asp)
c.2059C>G (p.His687Asp)
c.2323C>G (p.His775Asp)
c.2521C>G (p.His841Asp)
c.2926C>G (p.His976Asp)
15g.22903869G=CA2163978141CYFIP1c.2419C= (p.His807=)
c.2425C= (p.His809=)
c.1132C= (p.His378=)
n.818C=
n.1572C=
c.2824C= (p.His942=)
c.2527C= (p.His843=)
c.745C= (p.His249=)
c.2335C= (p.His779=)
c.2059C= (p.His687=)
c.2323C= (p.His775=)
c.2521C= (p.His841=)
c.2926C= (p.His976=)
15g.22903869G>TCA391334772CYFIP1c.2419C>A (p.His807Asn)
c.2425C>A (p.His809Asn)
c.1132C>A (p.His378Asn)
n.818C>A
n.1572C>A
c.2824C>A (p.His942Asn)
c.2527C>A (p.His843Asn)
c.745C>A (p.His249Asn)
c.2335C>A (p.His779Asn)
c.2059C>A (p.His687Asn)
c.2323C>A (p.His775Asn)
c.2521C>A (p.His841Asn)
c.2926C>A (p.His976Asn)
15g.22903870G>ACA488526508CYFIP1c.2418C>T (p.Thr806=)
c.2424C>T (p.Thr808=)
c.1131C>T (p.Thr377=)
n.817C>T
n.1571C>T
c.2823C>T (p.Thr941=)
c.2526C>T (p.Thr842=)
c.744C>T (p.Thr248=)
c.2334C>T (p.Thr778=)
c.2058C>T (p.Thr686=)
c.2322C>T (p.Thr774=)
c.2520C>T (p.Thr840=)
c.2925C>T (p.Thr975=)
15g.22903870G>CCA488526507CYFIP1c.2418C>G (p.Thr806=)
c.2424C>G (p.Thr808=)
c.1131C>G (p.Thr377=)
n.817C>G
n.1571C>G
c.2823C>G (p.Thr941=)
c.2526C>G (p.Thr842=)
c.744C>G (p.Thr248=)
c.2334C>G (p.Thr778=)
c.2058C>G (p.Thr686=)
c.2322C>G (p.Thr774=)
c.2520C>G (p.Thr840=)
c.2925C>G (p.Thr975=)
15g.22903870G>TCA488526509CYFIP1c.2418C>A (p.Thr806=)
c.2424C>A (p.Thr808=)
c.1131C>A (p.Thr377=)
n.817C>A
n.1571C>A
c.2823C>A (p.Thr941=)
c.2526C>A (p.Thr842=)
c.744C>A (p.Thr248=)
c.2334C>A (p.Thr778=)
c.2058C>A (p.Thr686=)
c.2322C>A (p.Thr774=)
c.2520C>A (p.Thr840=)
c.2925C>A (p.Thr975=)
15g.22903871G>ACA391334773CYFIP1c.2417C>T (p.Thr806Ile)
c.2423C>T (p.Thr808Ile)
c.1130C>T (p.Thr377Ile)
n.816C>T
n.1570C>T
c.2822C>T (p.Thr941Ile)
c.2525C>T (p.Thr842Ile)
c.743C>T (p.Thr248Ile)
c.2333C>T (p.Thr778Ile)
c.2057C>T (p.Thr686Ile)
c.2321C>T (p.Thr774Ile)
c.2519C>T (p.Thr840Ile)
c.2924C>T (p.Thr975Ile)
15g.22903871G>CCA391334776CYFIP1c.2417C>G (p.Thr806Ser)
c.2423C>G (p.Thr808Ser)
c.1130C>G (p.Thr377Ser)
n.816C>G
n.1570C>G
c.2822C>G (p.Thr941Ser)
c.2525C>G (p.Thr842Ser)
c.743C>G (p.Thr248Ser)
c.2333C>G (p.Thr778Ser)
c.2057C>G (p.Thr686Ser)
c.2321C>G (p.Thr774Ser)
c.2519C>G (p.Thr840Ser)
c.2924C>G (p.Thr975Ser)
15g.22903871G>TCA391334775CYFIP1c.2417C>A (p.Thr806Asn)
c.2423C>A (p.Thr808Asn)
c.1130C>A (p.Thr377Asn)
n.816C>A
n.1570C>A
c.2822C>A (p.Thr941Asn)
c.2525C>A (p.Thr842Asn)
c.743C>A (p.Thr248Asn)
c.2333C>A (p.Thr778Asn)
c.2057C>A (p.Thr686Asn)
c.2321C>A (p.Thr774Asn)
c.2519C>A (p.Thr840Asn)
c.2924C>A (p.Thr975Asn)
gnomAD v4
15g.22903872T>ACA391334777CYFIP1c.2416A>T (p.Thr806Ser)
c.2422A>T (p.Thr808Ser)
c.1129A>T (p.Thr377Ser)
n.815A>T
n.1569A>T
c.2821A>T (p.Thr941Ser)
c.2524A>T (p.Thr842Ser)
c.742A>T (p.Thr248Ser)
c.2332A>T (p.Thr778Ser)
c.2056A>T (p.Thr686Ser)
c.2320A>T (p.Thr774Ser)
c.2518A>T (p.Thr840Ser)
c.2923A>T (p.Thr975Ser)
15g.22903872T>CCA391334778CYFIP1c.2416A>G (p.Thr806Ala)
c.2422A>G (p.Thr808Ala)
c.1129A>G (p.Thr377Ala)
n.815A>G
n.1569A>G
c.2821A>G (p.Thr941Ala)
c.2524A>G (p.Thr842Ala)
c.742A>G (p.Thr248Ala)
c.2332A>G (p.Thr778Ala)
c.2056A>G (p.Thr686Ala)
c.2320A>G (p.Thr774Ala)
c.2518A>G (p.Thr840Ala)
c.2923A>G (p.Thr975Ala)
15g.22903872T>GCA391334780CYFIP1c.2416A>C (p.Thr806Pro)
c.2422A>C (p.Thr808Pro)
c.1129A>C (p.Thr377Pro)
n.815A>C
n.1569A>C
c.2821A>C (p.Thr941Pro)
c.2524A>C (p.Thr842Pro)
c.742A>C (p.Thr248Pro)
c.2332A>C (p.Thr778Pro)
c.2056A>C (p.Thr686Pro)
c.2320A>C (p.Thr774Pro)
c.2518A>C (p.Thr840Pro)
c.2923A>C (p.Thr975Pro)
15g.22903873C>ACA391334782CYFIP1c.2415G>T (p.Met805Ile)
c.2421G>T (p.Met807Ile)
c.1128G>T (p.Met376Ile)
n.814G>T
n.1568G>T
c.2820G>T (p.Met940Ile)
c.2523G>T (p.Met841Ile)
c.741G>T (p.Met247Ile)
c.2331G>T (p.Met777Ile)
c.2055G>T (p.Met685Ile)
c.2319G>T (p.Met773Ile)
c.2517G>T (p.Met839Ile)
c.2922G>T (p.Met974Ile)
15g.22903873C>GCA391334783CYFIP1c.2415G>C (p.Met805Ile)
c.2421G>C (p.Met807Ile)
c.1128G>C (p.Met376Ile)
n.814G>C
n.1568G>C
c.2820G>C (p.Met940Ile)
c.2523G>C (p.Met841Ile)
c.741G>C (p.Met247Ile)
c.2331G>C (p.Met777Ile)
c.2055G>C (p.Met685Ile)
c.2319G>C (p.Met773Ile)
c.2517G>C (p.Met839Ile)
c.2922G>C (p.Met974Ile)
15g.22903873C>TCA391334785CYFIP1c.2415G>A (p.Met805Ile)
c.2421G>A (p.Met807Ile)
c.1128G>A (p.Met376Ile)
n.814G>A
n.1568G>A
c.2820G>A (p.Met940Ile)
c.2523G>A (p.Met841Ile)
c.741G>A (p.Met247Ile)
c.2331G>A (p.Met777Ile)
c.2055G>A (p.Met685Ile)
c.2319G>A (p.Met773Ile)
c.2517G>A (p.Met839Ile)
c.2922G>A (p.Met974Ile)
15g.22903874A>CCA391334787CYFIP1c.2414T>G (p.Met805Arg)
c.2420T>G (p.Met807Arg)
c.1127T>G (p.Met376Arg)
n.813T>G
n.1567T>G
c.2819T>G (p.Met940Arg)
c.2522T>G (p.Met841Arg)
c.740T>G (p.Met247Arg)
c.2330T>G (p.Met777Arg)
c.2054T>G (p.Met685Arg)
c.2318T>G (p.Met773Arg)
c.2516T>G (p.Met839Arg)
c.2921T>G (p.Met974Arg)
15g.22903874A>GCA391334789CYFIP1c.2414T>C (p.Met805Thr)
c.2420T>C (p.Met807Thr)
c.1127T>C (p.Met376Thr)
n.813T>C
n.1567T>C
c.2819T>C (p.Met940Thr)
c.2522T>C (p.Met841Thr)
c.740T>C (p.Met247Thr)
c.2330T>C (p.Met777Thr)
c.2054T>C (p.Met685Thr)
c.2318T>C (p.Met773Thr)
c.2516T>C (p.Met839Thr)
c.2921T>C (p.Met974Thr)
15g.22903874A>TCA391334791CYFIP1c.2414T>A (p.Met805Lys)
c.2420T>A (p.Met807Lys)
c.1127T>A (p.Met376Lys)
n.813T>A
n.1567T>A
c.2819T>A (p.Met940Lys)
c.2522T>A (p.Met841Lys)
c.740T>A (p.Met247Lys)
c.2330T>A (p.Met777Lys)
c.2054T>A (p.Met685Lys)
c.2318T>A (p.Met773Lys)
c.2516T>A (p.Met839Lys)
c.2921T>A (p.Met974Lys)
15g.22903875T>ACA391334792CYFIP1c.2413A>T (p.Met805Leu)
c.2419A>T (p.Met807Leu)
c.1126A>T (p.Met376Leu)
n.812A>T
n.1566A>T
c.2818A>T (p.Met940Leu)
c.2521A>T (p.Met841Leu)
c.739A>T (p.Met247Leu)
c.2329A>T (p.Met777Leu)
c.2053A>T (p.Met685Leu)
c.2317A>T (p.Met773Leu)
c.2515A>T (p.Met839Leu)
c.2920A>T (p.Met974Leu)
15g.22903875T>CCA267616622CYFIP1c.2413A>G (p.Met805Val)
c.2419A>G (p.Met807Val)
c.1126A>G (p.Met376Val)
n.812A>G
n.1566A>G
c.2818A>G (p.Met940Val)
c.2521A>G (p.Met841Val)
c.739A>G (p.Met247Val)
c.2329A>G (p.Met777Val)
c.2053A>G (p.Met685Val)
c.2317A>G (p.Met773Val)
c.2515A>G (p.Met839Val)
c.2920A>G (p.Met974Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.22903875T>GCA391334794CYFIP1c.2413A>C (p.Met805Leu)
c.2419A>C (p.Met807Leu)
c.1126A>C (p.Met376Leu)
n.812A>C
n.1566A>C
c.2818A>C (p.Met940Leu)
c.2521A>C (p.Met841Leu)
c.739A>C (p.Met247Leu)
c.2329A>C (p.Met777Leu)
c.2053A>C (p.Met685Leu)
c.2317A>C (p.Met773Leu)
c.2515A>C (p.Met839Leu)
c.2920A>C (p.Met974Leu)
gnomAD v4
15g.22903875T=CA2163978146CYFIP1c.2413A= (p.Met805=)
c.2419A= (p.Met807=)
c.1126A= (p.Met376=)
n.812A=
n.1566A=
c.2818A= (p.Met940=)
c.2521A= (p.Met841=)
c.739A= (p.Met247=)
c.2329A= (p.Met777=)
c.2053A= (p.Met685=)
c.2317A= (p.Met773=)
c.2515A= (p.Met839=)
c.2920A= (p.Met974=)
15g.22903876G>ACA488526512CYFIP1c.2412C>T (p.Arg804=)
c.2418C>T (p.Arg806=)
c.1125C>T (p.Arg375=)
n.811C>T
n.1565C>T
c.2817C>T (p.Arg939=)
c.2520C>T (p.Arg840=)
c.738C>T (p.Arg246=)
c.2328C>T (p.Arg776=)
c.2052C>T (p.Arg684=)
c.2316C>T (p.Arg772=)
c.2514C>T (p.Arg838=)
c.2919C>T (p.Arg973=)
dbSNP gnomAD v4
15g.22903876G>CCA488526510CYFIP1c.2412C>G (p.Arg804=)
c.2418C>G (p.Arg806=)
c.1125C>G (p.Arg375=)
n.811C>G
n.1565C>G
c.2817C>G (p.Arg939=)
c.2520C>G (p.Arg840=)
c.738C>G (p.Arg246=)
c.2328C>G (p.Arg776=)
c.2052C>G (p.Arg684=)
c.2316C>G (p.Arg772=)
c.2514C>G (p.Arg838=)
c.2919C>G (p.Arg973=)
15g.22903876G>TCA488526511CYFIP1c.2412C>A (p.Arg804=)
c.2418C>A (p.Arg806=)
c.1125C>A (p.Arg375=)
n.811C>A
n.1565C>A
c.2817C>A (p.Arg939=)
c.2520C>A (p.Arg840=)
c.738C>A (p.Arg246=)
c.2328C>A (p.Arg776=)
c.2052C>A (p.Arg684=)
c.2316C>A (p.Arg772=)
c.2514C>A (p.Arg838=)
c.2919C>A (p.Arg973=)
15g.22903877C>ACA267616633CYFIP1c.2411G>T (p.Arg804Leu)
c.2417G>T (p.Arg806Leu)
c.1124G>T (p.Arg375Leu)
n.810G>T
n.1564G>T
c.2816G>T (p.Arg939Leu)
c.2519G>T (p.Arg840Leu)
c.737G>T (p.Arg246Leu)
c.2327G>T (p.Arg776Leu)
c.2051G>T (p.Arg684Leu)
c.2315G>T (p.Arg772Leu)
c.2513G>T (p.Arg838Leu)
c.2918G>T (p.Arg973Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.22903877C=CA2163978149CYFIP1c.2411G= (p.Arg804=)
c.2417G= (p.Arg806=)
c.1124G= (p.Arg375=)
n.810G=
n.1564G=
c.2816G= (p.Arg939=)
c.2519G= (p.Arg840=)
c.737G= (p.Arg246=)
c.2327G= (p.Arg776=)
c.2051G= (p.Arg684=)
c.2315G= (p.Arg772=)
c.2513G= (p.Arg838=)
c.2918G= (p.Arg973=)
15g.22903877C>GCA391334799CYFIP1c.2411G>C (p.Arg804Pro)
c.2417G>C (p.Arg806Pro)
c.1124G>C (p.Arg375Pro)
n.810G>C
n.1564G>C
c.2816G>C (p.Arg939Pro)
c.2519G>C (p.Arg840Pro)
c.737G>C (p.Arg246Pro)
c.2327G>C (p.Arg776Pro)
c.2051G>C (p.Arg684Pro)
c.2315G>C (p.Arg772Pro)
c.2513G>C (p.Arg838Pro)
c.2918G>C (p.Arg973Pro)
15g.22903877C>TCA7425094CYFIP1c.2411G>A (p.Arg804His)
c.2417G>A (p.Arg806His)
c.1124G>A (p.Arg375His)
n.810G>A
n.1564G>A
c.2816G>A (p.Arg939His)
c.2519G>A (p.Arg840His)
c.737G>A (p.Arg246His)
c.2327G>A (p.Arg776His)
c.2051G>A (p.Arg684His)
c.2315G>A (p.Arg772His)
c.2513G>A (p.Arg838His)
c.2918G>A (p.Arg973His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903878G>ACA7425093CYFIP1c.2410C>T (p.Arg804Cys)
c.2416C>T (p.Arg806Cys)
c.1123C>T (p.Arg375Cys)
n.809C>T
n.1563C>T
c.2815C>T (p.Arg939Cys)
c.2518C>T (p.Arg840Cys)
c.736C>T (p.Arg246Cys)
c.2326C>T (p.Arg776Cys)
c.2050C>T (p.Arg684Cys)
c.2314C>T (p.Arg772Cys)
c.2512C>T (p.Arg838Cys)
c.2917C>T (p.Arg973Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903878G>CCA391334802CYFIP1c.2410C>G (p.Arg804Gly)
c.2416C>G (p.Arg806Gly)
c.1123C>G (p.Arg375Gly)
n.809C>G
n.1563C>G
c.2815C>G (p.Arg939Gly)
c.2518C>G (p.Arg840Gly)
c.736C>G (p.Arg246Gly)
c.2326C>G (p.Arg776Gly)
c.2050C>G (p.Arg684Gly)
c.2314C>G (p.Arg772Gly)
c.2512C>G (p.Arg838Gly)
c.2917C>G (p.Arg973Gly)
15g.22903878G=CA2163978151CYFIP1c.2410C= (p.Arg804=)
c.2416C= (p.Arg806=)
c.1123C= (p.Arg375=)
n.809C=
n.1563C=
c.2815C= (p.Arg939=)
c.2518C= (p.Arg840=)
c.736C= (p.Arg246=)
c.2326C= (p.Arg776=)
c.2050C= (p.Arg684=)
c.2314C= (p.Arg772=)
c.2512C= (p.Arg838=)
c.2917C= (p.Arg973=)
15g.22903878G>TCA391334804CYFIP1c.2410C>A (p.Arg804Ser)
c.2416C>A (p.Arg806Ser)
c.1123C>A (p.Arg375Ser)
n.809C>A
n.1563C>A
c.2815C>A (p.Arg939Ser)
c.2518C>A (p.Arg840Ser)
c.736C>A (p.Arg246Ser)
c.2326C>A (p.Arg776Ser)
c.2050C>A (p.Arg684Ser)
c.2314C>A (p.Arg772Ser)
c.2512C>A (p.Arg838Ser)
c.2917C>A (p.Arg973Ser)
15g.22903879G>ACA7425092CYFIP1c.2409C>T (p.Asn803=)
c.2415C>T (p.Asn805=)
c.1122C>T (p.Asn374=)
n.808C>T
n.1562C>T
c.2814C>T (p.Asn938=)
c.2517C>T (p.Asn839=)
c.735C>T (p.Asn245=)
c.2325C>T (p.Asn775=)
c.2049C>T (p.Asn683=)
c.2313C>T (p.Asn771=)
c.2511C>T (p.Asn837=)
c.2916C>T (p.Asn972=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.22903879G>CCA391334806CYFIP1c.2409C>G (p.Asn803Lys)
c.2415C>G (p.Asn805Lys)
c.1122C>G (p.Asn374Lys)
n.808C>G
n.1562C>G
c.2814C>G (p.Asn938Lys)
c.2517C>G (p.Asn839Lys)
c.735C>G (p.Asn245Lys)
c.2325C>G (p.Asn775Lys)
c.2049C>G (p.Asn683Lys)
c.2313C>G (p.Asn771Lys)
c.2511C>G (p.Asn837Lys)
c.2916C>G (p.Asn972Lys)
15g.22903879G=CA2163978154CYFIP1c.2409C= (p.Asn803=)
c.2415C= (p.Asn805=)
c.1122C= (p.Asn374=)
n.808C=
n.1562C=
c.2814C= (p.Asn938=)
c.2517C= (p.Asn839=)
c.735C= (p.Asn245=)
c.2325C= (p.Asn775=)
c.2049C= (p.Asn683=)
c.2313C= (p.Asn771=)
c.2511C= (p.Asn837=)
c.2916C= (p.Asn972=)
15g.22903879G>TCA391334808CYFIP1c.2409C>A (p.Asn803Lys)
c.2415C>A (p.Asn805Lys)
c.1122C>A (p.Asn374Lys)
n.808C>A
n.1562C>A
c.2814C>A (p.Asn938Lys)
c.2517C>A (p.Asn839Lys)
c.735C>A (p.Asn245Lys)
c.2325C>A (p.Asn775Lys)
c.2049C>A (p.Asn683Lys)
c.2313C>A (p.Asn771Lys)
c.2511C>A (p.Asn837Lys)
c.2916C>A (p.Asn972Lys)
15g.22903880T>ACA391334810CYFIP1c.2408A>T (p.Asn803Ile)
c.2414A>T (p.Asn805Ile)
c.1121A>T (p.Asn374Ile)
n.807A>T
n.1561A>T
c.2813A>T (p.Asn938Ile)
c.2516A>T (p.Asn839Ile)
c.734A>T (p.Asn245Ile)
c.2324A>T (p.Asn775Ile)
c.2048A>T (p.Asn683Ile)
c.2312A>T (p.Asn771Ile)
c.2510A>T (p.Asn837Ile)
c.2915A>T (p.Asn972Ile)
15g.22903880T>CCA7425091CYFIP1c.2408A>G (p.Asn803Ser)
c.2414A>G (p.Asn805Ser)
c.1121A>G (p.Asn374Ser)
n.807A>G
n.1561A>G
c.2813A>G (p.Asn938Ser)
c.2516A>G (p.Asn839Ser)
c.734A>G (p.Asn245Ser)
c.2324A>G (p.Asn775Ser)
c.2048A>G (p.Asn683Ser)
c.2312A>G (p.Asn771Ser)
c.2510A>G (p.Asn837Ser)
c.2915A>G (p.Asn972Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903880T>GCA391334813CYFIP1c.2408A>C (p.Asn803Thr)
c.2414A>C (p.Asn805Thr)
c.1121A>C (p.Asn374Thr)
n.807A>C
n.1561A>C
c.2813A>C (p.Asn938Thr)
c.2516A>C (p.Asn839Thr)
c.734A>C (p.Asn245Thr)
c.2324A>C (p.Asn775Thr)
c.2048A>C (p.Asn683Thr)
c.2312A>C (p.Asn771Thr)
c.2510A>C (p.Asn837Thr)
c.2915A>C (p.Asn972Thr)
gnomAD v4
15g.22903880T=CA2163978157CYFIP1c.2408A= (p.Asn803=)
c.2414A= (p.Asn805=)
c.1121A= (p.Asn374=)
n.807A=
n.1561A=
c.2813A= (p.Asn938=)
c.2516A= (p.Asn839=)
c.734A= (p.Asn245=)
c.2324A= (p.Asn775=)
c.2048A= (p.Asn683=)
c.2312A= (p.Asn771=)
c.2510A= (p.Asn837=)
c.2915A= (p.Asn972=)
15g.22903881T>ACA391334815CYFIP1c.2407A>T (p.Asn803Tyr)
c.2413A>T (p.Asn805Tyr)
c.1120A>T (p.Asn374Tyr)
n.806A>T
n.1560A>T
c.2812A>T (p.Asn938Tyr)
c.2515A>T (p.Asn839Tyr)
c.733A>T (p.Asn245Tyr)
c.2323A>T (p.Asn775Tyr)
c.2047A>T (p.Asn683Tyr)
c.2311A>T (p.Asn771Tyr)
c.2509A>T (p.Asn837Tyr)
c.2914A>T (p.Asn972Tyr)
15g.22903881T>CCA391334816CYFIP1c.2407A>G (p.Asn803Asp)
c.2413A>G (p.Asn805Asp)
c.1120A>G (p.Asn374Asp)
n.806A>G
n.1560A>G
c.2812A>G (p.Asn938Asp)
c.2515A>G (p.Asn839Asp)
c.733A>G (p.Asn245Asp)
c.2323A>G (p.Asn775Asp)
c.2047A>G (p.Asn683Asp)
c.2311A>G (p.Asn771Asp)
c.2509A>G (p.Asn837Asp)
c.2914A>G (p.Asn972Asp)
15g.22903881T>GCA391334818CYFIP1c.2407A>C (p.Asn803His)
c.2413A>C (p.Asn805His)
c.1120A>C (p.Asn374His)
n.806A>C
n.1560A>C
c.2812A>C (p.Asn938His)
c.2515A>C (p.Asn839His)
c.733A>C (p.Asn245His)
c.2323A>C (p.Asn775His)
c.2047A>C (p.Asn683His)
c.2311A>C (p.Asn771His)
c.2509A>C (p.Asn837His)
c.2914A>C (p.Asn972His)
15g.22903882G>ACA488526514CYFIP1c.2406C>T (p.Ile802=)
c.2412C>T (p.Ile804=)
c.1119C>T (p.Ile373=)
n.805C>T
n.1559C>T
c.2811C>T (p.Ile937=)
c.2514C>T (p.Ile838=)
c.732C>T (p.Ile244=)
c.2322C>T (p.Ile774=)
c.2046C>T (p.Ile682=)
c.2310C>T (p.Ile770=)
c.2508C>T (p.Ile836=)
c.2913C>T (p.Ile971=)
15g.22903882G>CCA391334820CYFIP1c.2406C>G (p.Ile802Met)
c.2412C>G (p.Ile804Met)
c.1119C>G (p.Ile373Met)
n.805C>G
n.1559C>G
c.2811C>G (p.Ile937Met)
c.2514C>G (p.Ile838Met)
c.732C>G (p.Ile244Met)
c.2322C>G (p.Ile774Met)
c.2046C>G (p.Ile682Met)
c.2310C>G (p.Ile770Met)
c.2508C>G (p.Ile836Met)
c.2913C>G (p.Ile971Met)
15g.22903882G>TCA488526513CYFIP1c.2406C>A (p.Ile802=)
c.2412C>A (p.Ile804=)
c.1119C>A (p.Ile373=)
n.805C>A
n.1559C>A
c.2811C>A (p.Ile937=)
c.2514C>A (p.Ile838=)
c.732C>A (p.Ile244=)
c.2322C>A (p.Ile774=)
c.2046C>A (p.Ile682=)
c.2310C>A (p.Ile770=)
c.2508C>A (p.Ile836=)
c.2913C>A (p.Ile971=)
15g.22903883A>CCA391334822CYFIP1c.2405T>G (p.Ile802Ser)
c.2411T>G (p.Ile804Ser)
c.1118T>G (p.Ile373Ser)
n.804T>G
n.1558T>G
c.2810T>G (p.Ile937Ser)
c.2513T>G (p.Ile838Ser)
c.731T>G (p.Ile244Ser)
c.2321T>G (p.Ile774Ser)
c.2045T>G (p.Ile682Ser)
c.2309T>G (p.Ile770Ser)
c.2507T>G (p.Ile836Ser)
c.2912T>G (p.Ile971Ser)
15g.22903883A>GCA391334827CYFIP1c.2405T>C (p.Ile802Thr)
c.2411T>C (p.Ile804Thr)
c.1118T>C (p.Ile373Thr)
n.804T>C
n.1558T>C
c.2810T>C (p.Ile937Thr)
c.2513T>C (p.Ile838Thr)
c.731T>C (p.Ile244Thr)
c.2321T>C (p.Ile774Thr)
c.2045T>C (p.Ile682Thr)
c.2309T>C (p.Ile770Thr)
c.2507T>C (p.Ile836Thr)
c.2912T>C (p.Ile971Thr)
15g.22903883A>TCA391334824CYFIP1c.2405T>A (p.Ile802Asn)
c.2411T>A (p.Ile804Asn)
c.1118T>A (p.Ile373Asn)
n.804T>A
n.1558T>A
c.2810T>A (p.Ile937Asn)
c.2513T>A (p.Ile838Asn)
c.731T>A (p.Ile244Asn)
c.2321T>A (p.Ile774Asn)
c.2045T>A (p.Ile682Asn)
c.2309T>A (p.Ile770Asn)
c.2507T>A (p.Ile836Asn)
c.2912T>A (p.Ile971Asn)
15g.22903884T>ACA391334829CYFIP1c.2404A>T (p.Ile802Phe)
c.2410A>T (p.Ile804Phe)
c.1117A>T (p.Ile373Phe)
n.803A>T
n.1557A>T
c.2809A>T (p.Ile937Phe)
c.2512A>T (p.Ile838Phe)
c.730A>T (p.Ile244Phe)
c.2320A>T (p.Ile774Phe)
c.2044A>T (p.Ile682Phe)
c.2308A>T (p.Ile770Phe)
c.2506A>T (p.Ile836Phe)
c.2911A>T (p.Ile971Phe)
15g.22903884T>CCA391334831CYFIP1c.2404A>G (p.Ile802Val)
c.2410A>G (p.Ile804Val)
c.1117A>G (p.Ile373Val)
n.803A>G
n.1557A>G
c.2809A>G (p.Ile937Val)
c.2512A>G (p.Ile838Val)
c.730A>G (p.Ile244Val)
c.2320A>G (p.Ile774Val)
c.2044A>G (p.Ile682Val)
c.2308A>G (p.Ile770Val)
c.2506A>G (p.Ile836Val)
c.2911A>G (p.Ile971Val)
dbSNP gnomAD v4
15g.22903884T>GCA391334832CYFIP1c.2404A>C (p.Ile802Leu)
c.2410A>C (p.Ile804Leu)
c.1117A>C (p.Ile373Leu)
n.803A>C
n.1557A>C
c.2809A>C (p.Ile937Leu)
c.2512A>C (p.Ile838Leu)
c.730A>C (p.Ile244Leu)
c.2320A>C (p.Ile774Leu)
c.2044A>C (p.Ile682Leu)
c.2308A>C (p.Ile770Leu)
c.2506A>C (p.Ile836Leu)
c.2911A>C (p.Ile971Leu)
15g.22903884T=CA2163978159CYFIP1c.2404A= (p.Ile802=)
c.2410A= (p.Ile804=)
c.1117A= (p.Ile373=)
n.803A=
n.1557A=
c.2809A= (p.Ile937=)
c.2512A= (p.Ile838=)
c.730A= (p.Ile244=)
c.2320A= (p.Ile774=)
c.2044A= (p.Ile682=)
c.2308A= (p.Ile770=)
c.2506A= (p.Ile836=)
c.2911A= (p.Ile971=)
15g.22903885T>ACA391334834CYFIP1c.2403A>T (p.Glu801Asp)
c.2409A>T (p.Glu803Asp)
c.1116A>T (p.Glu372Asp)
n.802A>T
n.1556A>T
c.2808A>T (p.Glu936Asp)
c.2511A>T (p.Glu837Asp)
c.729A>T (p.Glu243Asp)
c.2319A>T (p.Glu773Asp)
c.2043A>T (p.Glu681Asp)
c.2307A>T (p.Glu769Asp)
c.2505A>T (p.Glu835Asp)
c.2910A>T (p.Glu970Asp)
15g.22903885T>CCA488526515CYFIP1c.2403A>G (p.Glu801=)
c.2409A>G (p.Glu803=)
c.1116A>G (p.Glu372=)
n.802A>G
n.1556A>G
c.2808A>G (p.Glu936=)
c.2511A>G (p.Glu837=)
c.729A>G (p.Glu243=)
c.2319A>G (p.Glu773=)
c.2043A>G (p.Glu681=)
c.2307A>G (p.Glu769=)
c.2505A>G (p.Glu835=)
c.2910A>G (p.Glu970=)
15g.22903885T>GCA391334836CYFIP1c.2403A>C (p.Glu801Asp)
c.2409A>C (p.Glu803Asp)
c.1116A>C (p.Glu372Asp)
n.802A>C
n.1556A>C
c.2808A>C (p.Glu936Asp)
c.2511A>C (p.Glu837Asp)
c.729A>C (p.Glu243Asp)
c.2319A>C (p.Glu773Asp)
c.2043A>C (p.Glu681Asp)
c.2307A>C (p.Glu769Asp)
c.2505A>C (p.Glu835Asp)
c.2910A>C (p.Glu970Asp)
15g.22903886T>ACA391334838CYFIP1c.2402A>T (p.Glu801Val)
c.2408A>T (p.Glu803Val)
c.1115A>T (p.Glu372Val)
n.801A>T
n.1555A>T
c.2807A>T (p.Glu936Val)
c.2510A>T (p.Glu837Val)
c.728A>T (p.Glu243Val)
c.2318A>T (p.Glu773Val)
c.2042A>T (p.Glu681Val)
c.2306A>T (p.Glu769Val)
c.2504A>T (p.Glu835Val)
c.2909A>T (p.Glu970Val)
15g.22903886T>CCA391334840CYFIP1c.2402A>G (p.Glu801Gly)
c.2408A>G (p.Glu803Gly)
c.1115A>G (p.Glu372Gly)
n.801A>G
n.1555A>G
c.2807A>G (p.Glu936Gly)
c.2510A>G (p.Glu837Gly)
c.728A>G (p.Glu243Gly)
c.2318A>G (p.Glu773Gly)
c.2042A>G (p.Glu681Gly)
c.2306A>G (p.Glu769Gly)
c.2504A>G (p.Glu835Gly)
c.2909A>G (p.Glu970Gly)
15g.22903886T>GCA391334842CYFIP1c.2402A>C (p.Glu801Ala)
c.2408A>C (p.Glu803Ala)
c.1115A>C (p.Glu372Ala)
n.801A>C
n.1555A>C
c.2807A>C (p.Glu936Ala)
c.2510A>C (p.Glu837Ala)
c.728A>C (p.Glu243Ala)
c.2318A>C (p.Glu773Ala)
c.2042A>C (p.Glu681Ala)
c.2306A>C (p.Glu769Ala)
c.2504A>C (p.Glu835Ala)
c.2909A>C (p.Glu970Ala)
15g.22903887C>ACA391334844CYFIP1c.2401G>T (p.Glu801Ter)
c.2407G>T (p.Glu803Ter)
c.1114G>T (p.Glu372Ter)
n.800G>T
n.1554G>T
c.2806G>T (p.Glu936Ter)
c.2509G>T (p.Glu837Ter)
c.727G>T (p.Glu243Ter)
c.2317G>T (p.Glu773Ter)
c.2041G>T (p.Glu681Ter)
c.2305G>T (p.Glu769Ter)
c.2503G>T (p.Glu835Ter)
c.2908G>T (p.Glu970Ter)
15g.22903887C=CA2163978163CYFIP1c.2401G= (p.Glu801=)
c.2407G= (p.Glu803=)
c.1114G= (p.Glu372=)
n.800G=
n.1554G=
c.2806G= (p.Glu936=)
c.2509G= (p.Glu837=)
c.727G= (p.Glu243=)
c.2317G= (p.Glu773=)
c.2041G= (p.Glu681=)
c.2305G= (p.Glu769=)
c.2503G= (p.Glu835=)
c.2908G= (p.Glu970=)
15g.22903887C>GCA391334845CYFIP1c.2401G>C (p.Glu801Gln)
c.2407G>C (p.Glu803Gln)
c.1114G>C (p.Glu372Gln)
n.800G>C
n.1554G>C
c.2806G>C (p.Glu936Gln)
c.2509G>C (p.Glu837Gln)
c.727G>C (p.Glu243Gln)
c.2317G>C (p.Glu773Gln)
c.2041G>C (p.Glu681Gln)
c.2305G>C (p.Glu769Gln)
c.2503G>C (p.Glu835Gln)
c.2908G>C (p.Glu970Gln)
15g.22903887C>TCA391334847CYFIP1c.2401G>A (p.Glu801Lys)
c.2407G>A (p.Glu803Lys)
c.1114G>A (p.Glu372Lys)
n.800G>A
n.1554G>A
c.2806G>A (p.Glu936Lys)
c.2509G>A (p.Glu837Lys)
c.727G>A (p.Glu243Lys)
c.2317G>A (p.Glu773Lys)
c.2041G>A (p.Glu681Lys)
c.2305G>A (p.Glu769Lys)
c.2503G>A (p.Glu835Lys)
c.2908G>A (p.Glu970Lys)
dbSNP gnomAD v4
15g.22903888C>ACA391334849CYFIP1c.2400G>T (p.Leu800Phe)
c.2406G>T (p.Leu802Phe)
c.1113G>T (p.Leu371Phe)
n.799G>T
n.1553G>T
c.2805G>T (p.Leu935Phe)
c.2508G>T (p.Leu836Phe)
c.726G>T (p.Leu242Phe)
c.2316G>T (p.Leu772Phe)
c.2040G>T (p.Leu680Phe)
c.2304G>T (p.Leu768Phe)
c.2502G>T (p.Leu834Phe)
c.2907G>T (p.Leu969Phe)
15g.22903888C>GCA391334851CYFIP1c.2400G>C (p.Leu800Phe)
c.2406G>C (p.Leu802Phe)
c.1113G>C (p.Leu371Phe)
n.799G>C
n.1553G>C
c.2805G>C (p.Leu935Phe)
c.2508G>C (p.Leu836Phe)
c.726G>C (p.Leu242Phe)
c.2316G>C (p.Leu772Phe)
c.2040G>C (p.Leu680Phe)
c.2304G>C (p.Leu768Phe)
c.2502G>C (p.Leu834Phe)
c.2907G>C (p.Leu969Phe)
15g.22903888C>TCA488526516CYFIP1c.2400G>A (p.Leu800=)
c.2406G>A (p.Leu802=)
c.1113G>A (p.Leu371=)
n.799G>A
n.1553G>A
c.2805G>A (p.Leu935=)
c.2508G>A (p.Leu836=)
c.726G>A (p.Leu242=)
c.2316G>A (p.Leu772=)
c.2040G>A (p.Leu680=)
c.2304G>A (p.Leu768=)
c.2502G>A (p.Leu834=)
c.2907G>A (p.Leu969=)
15g.22903889A>CCA391334853CYFIP1c.2399T>G (p.Leu800Trp)
c.2405T>G (p.Leu802Trp)
c.1112T>G (p.Leu371Trp)
n.798T>G
n.1552T>G
c.2804T>G (p.Leu935Trp)
c.2507T>G (p.Leu836Trp)
c.725T>G (p.Leu242Trp)
c.2315T>G (p.Leu772Trp)
c.2039T>G (p.Leu680Trp)
c.2303T>G (p.Leu768Trp)
c.2501T>G (p.Leu834Trp)
c.2906T>G (p.Leu969Trp)
15g.22903889A>GCA391334857CYFIP1c.2399T>C (p.Leu800Ser)
c.2405T>C (p.Leu802Ser)
c.1112T>C (p.Leu371Ser)
n.798T>C
n.1552T>C
c.2804T>C (p.Leu935Ser)
c.2507T>C (p.Leu836Ser)
c.725T>C (p.Leu242Ser)
c.2315T>C (p.Leu772Ser)
c.2039T>C (p.Leu680Ser)
c.2303T>C (p.Leu768Ser)
c.2501T>C (p.Leu834Ser)
c.2906T>C (p.Leu969Ser)
15g.22903889A>TCA391334855CYFIP1c.2399T>A (p.Leu800Ter)
c.2405T>A (p.Leu802Ter)
c.1112T>A (p.Leu371Ter)
n.798T>A
n.1552T>A
c.2804T>A (p.Leu935Ter)
c.2507T>A (p.Leu836Ter)
c.725T>A (p.Leu242Ter)
c.2315T>A (p.Leu772Ter)
c.2039T>A (p.Leu680Ter)
c.2303T>A (p.Leu768Ter)
c.2501T>A (p.Leu834Ter)
c.2906T>A (p.Leu969Ter)
15g.22903890A>CCA391334858CYFIP1c.2398T>G (p.Leu800Val)
c.2404T>G (p.Leu802Val)
c.1111T>G (p.Leu371Val)
n.797T>G
n.1551T>G
c.2803T>G (p.Leu935Val)
c.2506T>G (p.Leu836Val)
c.724T>G (p.Leu242Val)
c.2314T>G (p.Leu772Val)
c.2038T>G (p.Leu680Val)
c.2302T>G (p.Leu768Val)
c.2500T>G (p.Leu834Val)
c.2905T>G (p.Leu969Val)
15g.22903890A>GCA488526517CYFIP1c.2398T>C (p.Leu800=)
c.2404T>C (p.Leu802=)
c.1111T>C (p.Leu371=)
n.797T>C
n.1551T>C
c.2803T>C (p.Leu935=)
c.2506T>C (p.Leu836=)
c.724T>C (p.Leu242=)
c.2314T>C (p.Leu772=)
c.2038T>C (p.Leu680=)
c.2302T>C (p.Leu768=)
c.2500T>C (p.Leu834=)
c.2905T>C (p.Leu969=)
15g.22903890A>TCA391334859CYFIP1c.2398T>A (p.Leu800Met)
c.2404T>A (p.Leu802Met)
c.1111T>A (p.Leu371Met)
n.797T>A
n.1551T>A
c.2803T>A (p.Leu935Met)
c.2506T>A (p.Leu836Met)
c.724T>A (p.Leu242Met)
c.2314T>A (p.Leu772Met)
c.2038T>A (p.Leu680Met)
c.2302T>A (p.Leu768Met)
c.2500T>A (p.Leu834Met)
c.2905T>A (p.Leu969Met)
15g.22903891C>ACA488526518CYFIP1c.2397G>T (p.Leu799=)
c.2403G>T (p.Leu801=)
c.1110G>T (p.Leu370=)
n.796G>T
n.1550G>T
c.2802G>T (p.Leu934=)
c.2505G>T (p.Leu835=)
c.723G>T (p.Leu241=)
c.2313G>T (p.Leu771=)
c.2037G>T (p.Leu679=)
c.2301G>T (p.Leu767=)
c.2499G>T (p.Leu833=)
c.2904G>T (p.Leu968=)
dbSNP gnomAD v2 gnomAD v4
15g.22903891C=CA2163978166CYFIP1c.2397G= (p.Leu799=)
c.2403G= (p.Leu801=)
c.1110G= (p.Leu370=)
n.796G=
n.1550G=
c.2802G= (p.Leu934=)
c.2505G= (p.Leu835=)
c.723G= (p.Leu241=)
c.2313G= (p.Leu771=)
c.2037G= (p.Leu679=)
c.2301G= (p.Leu767=)
c.2499G= (p.Leu833=)
c.2904G= (p.Leu968=)
15g.22903891C>GCA488526519CYFIP1c.2397G>C (p.Leu799=)
c.2403G>C (p.Leu801=)
c.1110G>C (p.Leu370=)
n.796G>C
n.1550G>C
c.2802G>C (p.Leu934=)
c.2505G>C (p.Leu835=)
c.723G>C (p.Leu241=)
c.2313G>C (p.Leu771=)
c.2037G>C (p.Leu679=)
c.2301G>C (p.Leu767=)
c.2499G>C (p.Leu833=)
c.2904G>C (p.Leu968=)
15g.22903891C>TCA488526520CYFIP1c.2397G>A (p.Leu799=)
c.2403G>A (p.Leu801=)
c.1110G>A (p.Leu370=)
n.796G>A
n.1550G>A
c.2802G>A (p.Leu934=)
c.2505G>A (p.Leu835=)
c.723G>A (p.Leu241=)
c.2313G>A (p.Leu771=)
c.2037G>A (p.Leu679=)
c.2301G>A (p.Leu767=)
c.2499G>A (p.Leu833=)
c.2904G>A (p.Leu968=)
15g.22903892A>CCA391334862CYFIP1c.2396T>G (p.Leu799Arg)
c.2402T>G (p.Leu801Arg)
c.1109T>G (p.Leu370Arg)
n.795T>G
n.1549T>G
c.2801T>G (p.Leu934Arg)
c.2504T>G (p.Leu835Arg)
c.722T>G (p.Leu241Arg)
c.2312T>G (p.Leu771Arg)
c.2036T>G (p.Leu679Arg)
c.2300T>G (p.Leu767Arg)
c.2498T>G (p.Leu833Arg)
c.2903T>G (p.Leu968Arg)
15g.22903892A>GCA391334863CYFIP1c.2396T>C (p.Leu799Pro)
c.2402T>C (p.Leu801Pro)
c.1109T>C (p.Leu370Pro)
n.795T>C
n.1549T>C
c.2801T>C (p.Leu934Pro)
c.2504T>C (p.Leu835Pro)
c.722T>C (p.Leu241Pro)
c.2312T>C (p.Leu771Pro)
c.2036T>C (p.Leu679Pro)
c.2300T>C (p.Leu767Pro)
c.2498T>C (p.Leu833Pro)
c.2903T>C (p.Leu968Pro)
15g.22903892A>TCA391334865CYFIP1c.2396T>A (p.Leu799Gln)
c.2402T>A (p.Leu801Gln)
c.1109T>A (p.Leu370Gln)
n.795T>A
n.1549T>A
c.2801T>A (p.Leu934Gln)
c.2504T>A (p.Leu835Gln)
c.722T>A (p.Leu241Gln)
c.2312T>A (p.Leu771Gln)
c.2036T>A (p.Leu679Gln)
c.2300T>A (p.Leu767Gln)
c.2498T>A (p.Leu833Gln)
c.2903T>A (p.Leu968Gln)
15g.22903893G>ACA488526521CYFIP1c.2395C>T (p.Leu799=)
c.2401C>T (p.Leu801=)
c.1108C>T (p.Leu370=)
n.794C>T
n.1548C>T
c.2800C>T (p.Leu934=)
c.2503C>T (p.Leu835=)
c.721C>T (p.Leu241=)
c.2311C>T (p.Leu771=)
c.2035C>T (p.Leu679=)
c.2299C>T (p.Leu767=)
c.2497C>T (p.Leu833=)
c.2902C>T (p.Leu968=)
dbSNP gnomAD v2
15g.22903893G>CCA391334867CYFIP1c.2395C>G (p.Leu799Val)
c.2401C>G (p.Leu801Val)
c.1108C>G (p.Leu370Val)
n.794C>G
n.1548C>G
c.2800C>G (p.Leu934Val)
c.2503C>G (p.Leu835Val)
c.721C>G (p.Leu241Val)
c.2311C>G (p.Leu771Val)
c.2035C>G (p.Leu679Val)
c.2299C>G (p.Leu767Val)
c.2497C>G (p.Leu833Val)
c.2902C>G (p.Leu968Val)
15g.22903893G=CA2163978169CYFIP1c.2395C= (p.Leu799=)
c.2401C= (p.Leu801=)
c.1108C= (p.Leu370=)
n.794C=
n.1548C=
c.2800C= (p.Leu934=)
c.2503C= (p.Leu835=)
c.721C= (p.Leu241=)
c.2311C= (p.Leu771=)
c.2035C= (p.Leu679=)
c.2299C= (p.Leu767=)
c.2497C= (p.Leu833=)
c.2902C= (p.Leu968=)
15g.22903893G>TCA391334869CYFIP1c.2395C>A (p.Leu799Met)
c.2401C>A (p.Leu801Met)
c.1108C>A (p.Leu370Met)
n.794C>A
n.1548C>A
c.2800C>A (p.Leu934Met)
c.2503C>A (p.Leu835Met)
c.721C>A (p.Leu241Met)
c.2311C>A (p.Leu771Met)
c.2035C>A (p.Leu679Met)
c.2299C>A (p.Leu767Met)
c.2497C>A (p.Leu833Met)
c.2902C>A (p.Leu968Met)
15g.22903894G>ACA488526524CYFIP1c.2394C>T (p.Gly798=)
c.2400C>T (p.Gly800=)
c.1107C>T (p.Gly369=)
n.793C>T
n.1547C>T
c.2799C>T (p.Gly933=)
c.2502C>T (p.Gly834=)
c.720C>T (p.Gly240=)
c.2310C>T (p.Gly770=)
c.2034C>T (p.Gly678=)
c.2298C>T (p.Gly766=)
c.2496C>T (p.Gly832=)
c.2901C>T (p.Gly967=)
dbSNP gnomAD v3 gnomAD v4
15g.22903894G>CCA488526522CYFIP1c.2394C>G (p.Gly798=)
c.2400C>G (p.Gly800=)
c.1107C>G (p.Gly369=)
n.793C>G
n.1547C>G
c.2799C>G (p.Gly933=)
c.2502C>G (p.Gly834=)
c.720C>G (p.Gly240=)
c.2310C>G (p.Gly770=)
c.2034C>G (p.Gly678=)
c.2298C>G (p.Gly766=)
c.2496C>G (p.Gly832=)
c.2901C>G (p.Gly967=)
15g.22903894G=CA2163978171CYFIP1c.2394C= (p.Gly798=)
c.2400C= (p.Gly800=)
c.1107C= (p.Gly369=)
n.793C=
n.1547C=
c.2799C= (p.Gly933=)
c.2502C= (p.Gly834=)
c.720C= (p.Gly240=)
c.2310C= (p.Gly770=)
c.2034C= (p.Gly678=)
c.2298C= (p.Gly766=)
c.2496C= (p.Gly832=)
c.2901C= (p.Gly967=)
15g.22903894G>TCA488526523CYFIP1c.2394C>A (p.Gly798=)
c.2400C>A (p.Gly800=)
c.1107C>A (p.Gly369=)
n.793C>A
n.1547C>A
c.2799C>A (p.Gly933=)
c.2502C>A (p.Gly834=)
c.720C>A (p.Gly240=)
c.2310C>A (p.Gly770=)
c.2034C>A (p.Gly678=)
c.2298C>A (p.Gly766=)
c.2496C>A (p.Gly832=)
c.2901C>A (p.Gly967=)
15g.22903895C>ACA391334870CYFIP1c.2393G>T (p.Gly798Val)
c.2399G>T (p.Gly800Val)
c.1106G>T (p.Gly369Val)
n.792G>T
n.1546G>T
c.2798G>T (p.Gly933Val)
c.2501G>T (p.Gly834Val)
c.719G>T (p.Gly240Val)
c.2309G>T (p.Gly770Val)
c.2033G>T (p.Gly678Val)
c.2297G>T (p.Gly766Val)
c.2495G>T (p.Gly832Val)
c.2900G>T (p.Gly967Val)
15g.22903895C>GCA391334872CYFIP1c.2393G>C (p.Gly798Ala)
c.2399G>C (p.Gly800Ala)
c.1106G>C (p.Gly369Ala)
n.792G>C
n.1546G>C
c.2798G>C (p.Gly933Ala)
c.2501G>C (p.Gly834Ala)
c.719G>C (p.Gly240Ala)
c.2309G>C (p.Gly770Ala)
c.2033G>C (p.Gly678Ala)
c.2297G>C (p.Gly766Ala)
c.2495G>C (p.Gly832Ala)
c.2900G>C (p.Gly967Ala)
15g.22903895C>TCA391334874CYFIP1c.2393G>A (p.Gly798Asp)
c.2399G>A (p.Gly800Asp)
c.1106G>A (p.Gly369Asp)
n.792G>A
n.1546G>A
c.2798G>A (p.Gly933Asp)
c.2501G>A (p.Gly834Asp)
c.719G>A (p.Gly240Asp)
c.2309G>A (p.Gly770Asp)
c.2033G>A (p.Gly678Asp)
c.2297G>A (p.Gly766Asp)
c.2495G>A (p.Gly832Asp)
c.2900G>A (p.Gly967Asp)
gnomAD v4
15g.22903896C>ACA391334876CYFIP1c.2392G>T (p.Gly798Cys)
c.2398G>T (p.Gly800Cys)
c.1105G>T (p.Gly369Cys)
n.791G>T
n.1545G>T
c.2797G>T (p.Gly933Cys)
c.2500G>T (p.Gly834Cys)
c.718G>T (p.Gly240Cys)
c.2308G>T (p.Gly770Cys)
c.2032G>T (p.Gly678Cys)
c.2296G>T (p.Gly766Cys)
c.2494G>T (p.Gly832Cys)
c.2899G>T (p.Gly967Cys)
15g.22903896C=CA2163978174CYFIP1c.2392G= (p.Gly798=)
c.2398G= (p.Gly800=)
c.1105G= (p.Gly369=)
n.791G=
n.1545G=
c.2797G= (p.Gly933=)
c.2500G= (p.Gly834=)
c.718G= (p.Gly240=)
c.2308G= (p.Gly770=)
c.2032G= (p.Gly678=)
c.2296G= (p.Gly766=)
c.2494G= (p.Gly832=)
c.2899G= (p.Gly967=)
15g.22903896C>GCA391334879CYFIP1c.2392G>C (p.Gly798Arg)
c.2398G>C (p.Gly800Arg)
c.1105G>C (p.Gly369Arg)
n.791G>C
n.1545G>C
c.2797G>C (p.Gly933Arg)
c.2500G>C (p.Gly834Arg)
c.718G>C (p.Gly240Arg)
c.2308G>C (p.Gly770Arg)
c.2032G>C (p.Gly678Arg)
c.2296G>C (p.Gly766Arg)
c.2494G>C (p.Gly832Arg)
c.2899G>C (p.Gly967Arg)
15g.22903896C>TCA267616651CYFIP1c.2392G>A (p.Gly798Ser)
c.2398G>A (p.Gly800Ser)
c.1105G>A (p.Gly369Ser)
n.791G>A
n.1545G>A
c.2797G>A (p.Gly933Ser)
c.2500G>A (p.Gly834Ser)
c.718G>A (p.Gly240Ser)
c.2308G>A (p.Gly770Ser)
c.2032G>A (p.Gly678Ser)
c.2296G>A (p.Gly766Ser)
c.2494G>A (p.Gly832Ser)
c.2899G>A (p.Gly967Ser)
dbSNP gnomAD v4
15g.22903897A=CA2163978177CYFIP1c.2391T= (p.Asp797=)
c.2397T= (p.Asp799=)
c.1104T= (p.Asp368=)
n.790T=
n.1544T=
c.2796T= (p.Asp932=)
c.2499T= (p.Asp833=)
c.717T= (p.Asp239=)
c.2307T= (p.Asp769=)
c.2031T= (p.Asp677=)
c.2295T= (p.Asp765=)
c.2493T= (p.Asp831=)
c.2898T= (p.Asp966=)
15g.22903897A>CCA391334880CYFIP1c.2391T>G (p.Asp797Glu)
c.2397T>G (p.Asp799Glu)
c.1104T>G (p.Asp368Glu)
n.790T>G
n.1544T>G
c.2796T>G (p.Asp932Glu)
c.2499T>G (p.Asp833Glu)
c.717T>G (p.Asp239Glu)
c.2307T>G (p.Asp769Glu)
c.2031T>G (p.Asp677Glu)
c.2295T>G (p.Asp765Glu)
c.2493T>G (p.Asp831Glu)
c.2898T>G (p.Asp966Glu)
15g.22903897A>GCA488526525CYFIP1c.2391T>C (p.Asp797=)
c.2397T>C (p.Asp799=)
c.1104T>C (p.Asp368=)
n.790T>C
n.1544T>C
c.2796T>C (p.Asp932=)
c.2499T>C (p.Asp833=)
c.717T>C (p.Asp239=)
c.2307T>C (p.Asp769=)
c.2031T>C (p.Asp677=)
c.2295T>C (p.Asp765=)
c.2493T>C (p.Asp831=)
c.2898T>C (p.Asp966=)
dbSNP gnomAD v3 gnomAD v4
15g.22903897A>TCA391334882CYFIP1c.2391T>A (p.Asp797Glu)
c.2397T>A (p.Asp799Glu)
c.1104T>A (p.Asp368Glu)
n.790T>A
n.1544T>A
c.2796T>A (p.Asp932Glu)
c.2499T>A (p.Asp833Glu)
c.717T>A (p.Asp239Glu)
c.2307T>A (p.Asp769Glu)
c.2031T>A (p.Asp677Glu)
c.2295T>A (p.Asp765Glu)
c.2493T>A (p.Asp831Glu)
c.2898T>A (p.Asp966Glu)
15g.22903898T>ACA391334883CYFIP1c.2390A>T (p.Asp797Val)
c.2396A>T (p.Asp799Val)
c.1103A>T (p.Asp368Val)
n.789A>T
n.1543A>T
c.2795A>T (p.Asp932Val)
c.2498A>T (p.Asp833Val)
c.716A>T (p.Asp239Val)
c.2306A>T (p.Asp769Val)
c.2030A>T (p.Asp677Val)
c.2294A>T (p.Asp765Val)
c.2492A>T (p.Asp831Val)
c.2897A>T (p.Asp966Val)
15g.22903898T>CCA391334886CYFIP1c.2390A>G (p.Asp797Gly)
c.2396A>G (p.Asp799Gly)
c.1103A>G (p.Asp368Gly)
n.789A>G
n.1543A>G
c.2795A>G (p.Asp932Gly)
c.2498A>G (p.Asp833Gly)
c.716A>G (p.Asp239Gly)
c.2306A>G (p.Asp769Gly)
c.2030A>G (p.Asp677Gly)
c.2294A>G (p.Asp765Gly)
c.2492A>G (p.Asp831Gly)
c.2897A>G (p.Asp966Gly)
15g.22903898T>GCA391334887CYFIP1c.2390A>C (p.Asp797Ala)
c.2396A>C (p.Asp799Ala)
c.1103A>C (p.Asp368Ala)
n.789A>C
n.1543A>C
c.2795A>C (p.Asp932Ala)
c.2498A>C (p.Asp833Ala)
c.716A>C (p.Asp239Ala)
c.2306A>C (p.Asp769Ala)
c.2030A>C (p.Asp677Ala)
c.2294A>C (p.Asp765Ala)
c.2492A>C (p.Asp831Ala)
c.2897A>C (p.Asp966Ala)
15g.22903899C>ACA391334889CYFIP1c.2389G>T (p.Asp797Tyr)
c.2395G>T (p.Asp799Tyr)
c.1102G>T (p.Asp368Tyr)
n.788G>T
n.1542G>T
c.2794G>T (p.Asp932Tyr)
c.2497G>T (p.Asp833Tyr)
c.715G>T (p.Asp239Tyr)
c.2305G>T (p.Asp769Tyr)
c.2029G>T (p.Asp677Tyr)
c.2293G>T (p.Asp765Tyr)
c.2491G>T (p.Asp831Tyr)
c.2896G>T (p.Asp966Tyr)
15g.22903899C=CA2163978180CYFIP1c.2389G= (p.Asp797=)
c.2395G= (p.Asp799=)
c.1102G= (p.Asp368=)
n.788G=
n.1542G=
c.2794G= (p.Asp932=)
c.2497G= (p.Asp833=)
c.715G= (p.Asp239=)
c.2305G= (p.Asp769=)
c.2029G= (p.Asp677=)
c.2293G= (p.Asp765=)
c.2491G= (p.Asp831=)
c.2896G= (p.Asp966=)
15g.22903899C>GCA391334890CYFIP1c.2389G>C (p.Asp797His)
c.2395G>C (p.Asp799His)
c.1102G>C (p.Asp368His)
n.788G>C
n.1542G>C
c.2794G>C (p.Asp932His)
c.2497G>C (p.Asp833His)
c.715G>C (p.Asp239His)
c.2305G>C (p.Asp769His)
c.2029G>C (p.Asp677His)
c.2293G>C (p.Asp765His)
c.2491G>C (p.Asp831His)
c.2896G>C (p.Asp966His)
dbSNP gnomAD v3 gnomAD v4
15g.22903899C>TCA391334892CYFIP1c.2389G>A (p.Asp797Asn)
c.2395G>A (p.Asp799Asn)
c.1102G>A (p.Asp368Asn)
n.788G>A
n.1542G>A
c.2794G>A (p.Asp932Asn)
c.2497G>A (p.Asp833Asn)
c.715G>A (p.Asp239Asn)
c.2305G>A (p.Asp769Asn)
c.2029G>A (p.Asp677Asn)
c.2293G>A (p.Asp765Asn)
c.2491G>A (p.Asp831Asn)
c.2896G>A (p.Asp966Asn)
gnomAD v4
15g.22903900C>ACA488526526CYFIP1c.2388G>T (p.Leu796=)
c.2394G>T (p.Leu798=)
c.1101G>T (p.Leu367=)
n.787G>T
n.1541G>T
c.2793G>T (p.Leu931=)
c.2496G>T (p.Leu832=)
c.714G>T (p.Leu238=)
c.2304G>T (p.Leu768=)
c.2028G>T (p.Leu676=)
c.2292G>T (p.Leu764=)
c.2490G>T (p.Leu830=)
c.2895G>T (p.Leu965=)
15g.22903900C=CA2163978182CYFIP1c.2388G= (p.Leu796=)
c.2394G= (p.Leu798=)
c.1101G= (p.Leu367=)
n.787G=
n.1541G=
c.2793G= (p.Leu931=)
c.2496G= (p.Leu832=)
c.714G= (p.Leu238=)
c.2304G= (p.Leu768=)
c.2028G= (p.Leu676=)
c.2292G= (p.Leu764=)
c.2490G= (p.Leu830=)
c.2895G= (p.Leu965=)
15g.22903900C>GCA488526527CYFIP1c.2388G>C (p.Leu796=)
c.2394G>C (p.Leu798=)
c.1101G>C (p.Leu367=)
n.787G>C
n.1541G>C
c.2793G>C (p.Leu931=)
c.2496G>C (p.Leu832=)
c.714G>C (p.Leu238=)
c.2304G>C (p.Leu768=)
c.2028G>C (p.Leu676=)
c.2292G>C (p.Leu764=)
c.2490G>C (p.Leu830=)
c.2895G>C (p.Leu965=)
15g.22903900C>TCA488526528CYFIP1c.2388G>A (p.Leu796=)
c.2394G>A (p.Leu798=)
c.1101G>A (p.Leu367=)
n.787G>A
n.1541G>A
c.2793G>A (p.Leu931=)
c.2496G>A (p.Leu832=)
c.714G>A (p.Leu238=)
c.2304G>A (p.Leu768=)
c.2028G>A (p.Leu676=)
c.2292G>A (p.Leu764=)
c.2490G>A (p.Leu830=)
c.2895G>A (p.Leu965=)
dbSNP
15g.22903901A>CCA391334894CYFIP1c.2387T>G (p.Leu796Arg)
c.2393T>G (p.Leu798Arg)
c.1100T>G (p.Leu367Arg)
n.786T>G
n.1540T>G
c.2792T>G (p.Leu931Arg)
c.2495T>G (p.Leu832Arg)
c.713T>G (p.Leu238Arg)
c.2303T>G (p.Leu768Arg)
c.2027T>G (p.Leu676Arg)
c.2291T>G (p.Leu764Arg)
c.2489T>G (p.Leu830Arg)
c.2894T>G (p.Leu965Arg)
15g.22903901A>GCA391334896CYFIP1c.2387T>C (p.Leu796Pro)
c.2393T>C (p.Leu798Pro)
c.1100T>C (p.Leu367Pro)
n.786T>C
n.1540T>C
c.2792T>C (p.Leu931Pro)
c.2495T>C (p.Leu832Pro)
c.713T>C (p.Leu238Pro)
c.2303T>C (p.Leu768Pro)
c.2027T>C (p.Leu676Pro)
c.2291T>C (p.Leu764Pro)
c.2489T>C (p.Leu830Pro)
c.2894T>C (p.Leu965Pro)
15g.22903901A>TCA391334897CYFIP1c.2387T>A (p.Leu796Gln)
c.2393T>A (p.Leu798Gln)
c.1100T>A (p.Leu367Gln)
n.786T>A
n.1540T>A
c.2792T>A (p.Leu931Gln)
c.2495T>A (p.Leu832Gln)
c.713T>A (p.Leu238Gln)
c.2303T>A (p.Leu768Gln)
c.2027T>A (p.Leu676Gln)
c.2291T>A (p.Leu764Gln)
c.2489T>A (p.Leu830Gln)
c.2894T>A (p.Leu965Gln)
15g.22903902G>ACA488526529CYFIP1c.2386C>T (p.Leu796=)
c.2392C>T (p.Leu798=)
c.1099C>T (p.Leu367=)
n.785C>T
n.1539C>T
c.2791C>T (p.Leu931=)
c.2494C>T (p.Leu832=)
c.712C>T (p.Leu238=)
c.2302C>T (p.Leu768=)
c.2026C>T (p.Leu676=)
c.2290C>T (p.Leu764=)
c.2488C>T (p.Leu830=)
c.2893C>T (p.Leu965=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.22903902G>CCA391334898CYFIP1c.2386C>G (p.Leu796Val)
c.2392C>G (p.Leu798Val)
c.1099C>G (p.Leu367Val)
n.785C>G
n.1539C>G
c.2791C>G (p.Leu931Val)
c.2494C>G (p.Leu832Val)
c.712C>G (p.Leu238Val)
c.2302C>G (p.Leu768Val)
c.2026C>G (p.Leu676Val)
c.2290C>G (p.Leu764Val)
c.2488C>G (p.Leu830Val)
c.2893C>G (p.Leu965Val)
15g.22903902G=CA2163978184CYFIP1c.2386C= (p.Leu796=)
c.2392C= (p.Leu798=)
c.1099C= (p.Leu367=)
n.785C=
n.1539C=
c.2791C= (p.Leu931=)
c.2494C= (p.Leu832=)
c.712C= (p.Leu238=)
c.2302C= (p.Leu768=)
c.2026C= (p.Leu676=)
c.2290C= (p.Leu764=)
c.2488C= (p.Leu830=)
c.2893C= (p.Leu965=)
15g.22903902G>TCA391334900CYFIP1c.2386C>A (p.Leu796Met)
c.2392C>A (p.Leu798Met)
c.1099C>A (p.Leu367Met)
n.785C>A
n.1539C>A
c.2791C>A (p.Leu931Met)
c.2494C>A (p.Leu832Met)
c.712C>A (p.Leu238Met)
c.2302C>A (p.Leu768Met)
c.2026C>A (p.Leu676Met)
c.2290C>A (p.Leu764Met)
c.2488C>A (p.Leu830Met)
c.2893C>A (p.Leu965Met)
15g.22903903C>ACA391334903CYFIP1c.2385G>T (p.Glu795Asp)
c.2391G>T (p.Glu797Asp)
c.1098G>T (p.Glu366Asp)
n.784G>T
n.1538G>T
c.2790G>T (p.Glu930Asp)
c.2493G>T (p.Glu831Asp)
c.711G>T (p.Glu237Asp)
c.2301G>T (p.Glu767Asp)
c.2025G>T (p.Glu675Asp)
c.2289G>T (p.Glu763Asp)
c.2487G>T (p.Glu829Asp)
c.2892G>T (p.Glu964Asp)
15g.22903903C=CA2163978187CYFIP1c.2385G= (p.Glu795=)
c.2391G= (p.Glu797=)
c.1098G= (p.Glu366=)
n.784G=
n.1538G=
c.2790G= (p.Glu930=)
c.2493G= (p.Glu831=)
c.711G= (p.Glu237=)
c.2301G= (p.Glu767=)
c.2025G= (p.Glu675=)
c.2289G= (p.Glu763=)
c.2487G= (p.Glu829=)
c.2892G= (p.Glu964=)
15g.22903903C>GCA391334901CYFIP1c.2385G>C (p.Glu795Asp)
c.2391G>C (p.Glu797Asp)
c.1098G>C (p.Glu366Asp)
n.784G>C
n.1538G>C
c.2790G>C (p.Glu930Asp)
c.2493G>C (p.Glu831Asp)
c.711G>C (p.Glu237Asp)
c.2301G>C (p.Glu767Asp)
c.2025G>C (p.Glu675Asp)
c.2289G>C (p.Glu763Asp)
c.2487G>C (p.Glu829Asp)
c.2892G>C (p.Glu964Asp)
15g.22903903C>TCA267616653CYFIP1c.2385G>A (p.Glu795=)
c.2391G>A (p.Glu797=)
c.1098G>A (p.Glu366=)
n.784G>A
n.1538G>A
c.2790G>A (p.Glu930=)
c.2493G>A (p.Glu831=)
c.711G>A (p.Glu237=)
c.2301G>A (p.Glu767=)
c.2025G>A (p.Glu675=)
c.2289G>A (p.Glu763=)
c.2487G>A (p.Glu829=)
c.2892G>A (p.Glu964=)
dbSNP
15g.22903904T>ACA391334904CYFIP1c.2384A>T (p.Glu795Val)
c.2390A>T (p.Glu797Val)
c.1097A>T (p.Glu366Val)
n.783A>T
n.1537A>T
c.2789A>T (p.Glu930Val)
c.2492A>T (p.Glu831Val)
c.710A>T (p.Glu237Val)
c.2300A>T (p.Glu767Val)
c.2024A>T (p.Glu675Val)
c.2288A>T (p.Glu763Val)
c.2486A>T (p.Glu829Val)
c.2891A>T (p.Glu964Val)
gnomAD v4
15g.22903904T>CCA391334908CYFIP1c.2384A>G (p.Glu795Gly)
c.2390A>G (p.Glu797Gly)
c.1097A>G (p.Glu366Gly)
n.783A>G
n.1537A>G
c.2789A>G (p.Glu930Gly)
c.2492A>G (p.Glu831Gly)
c.710A>G (p.Glu237Gly)
c.2300A>G (p.Glu767Gly)
c.2024A>G (p.Glu675Gly)
c.2288A>G (p.Glu763Gly)
c.2486A>G (p.Glu829Gly)
c.2891A>G (p.Glu964Gly)
15g.22903904T>GCA391334906CYFIP1c.2384A>C (p.Glu795Ala)
c.2390A>C (p.Glu797Ala)
c.1097A>C (p.Glu366Ala)
n.783A>C
n.1537A>C
c.2789A>C (p.Glu930Ala)
c.2492A>C (p.Glu831Ala)
c.710A>C (p.Glu237Ala)
c.2300A>C (p.Glu767Ala)
c.2024A>C (p.Glu675Ala)
c.2288A>C (p.Glu763Ala)
c.2486A>C (p.Glu829Ala)
c.2891A>C (p.Glu964Ala)
15g.22903905C>ACA391334909CYFIP1c.2383G>T (p.Glu795Ter)
c.2389G>T (p.Glu797Ter)
c.1096G>T (p.Glu366Ter)
n.782G>T
n.1536G>T
c.2788G>T (p.Glu930Ter)
c.2491G>T (p.Glu831Ter)
c.709G>T (p.Glu237Ter)
c.2299G>T (p.Glu767Ter)
c.2023G>T (p.Glu675Ter)
c.2287G>T (p.Glu763Ter)
c.2485G>T (p.Glu829Ter)
c.2890G>T (p.Glu964Ter)
15g.22903905C>GCA391334910CYFIP1c.2383G>C (p.Glu795Gln)
c.2389G>C (p.Glu797Gln)
c.1096G>C (p.Glu366Gln)
n.782G>C
n.1536G>C
c.2788G>C (p.Glu930Gln)
c.2491G>C (p.Glu831Gln)
c.709G>C (p.Glu237Gln)
c.2299G>C (p.Glu767Gln)
c.2023G>C (p.Glu675Gln)
c.2287G>C (p.Glu763Gln)
c.2485G>C (p.Glu829Gln)
c.2890G>C (p.Glu964Gln)
15g.22903905C>TCA391334912CYFIP1c.2383G>A (p.Glu795Lys)
c.2389G>A (p.Glu797Lys)
c.1096G>A (p.Glu366Lys)
n.782G>A
n.1536G>A
c.2788G>A (p.Glu930Lys)
c.2491G>A (p.Glu831Lys)
c.709G>A (p.Glu237Lys)
c.2299G>A (p.Glu767Lys)
c.2023G>A (p.Glu675Lys)
c.2287G>A (p.Glu763Lys)
c.2485G>A (p.Glu829Lys)
c.2890G>A (p.Glu964Lys)
gnomAD v4
15g.22903906C>ACA391334915CYFIP1c.2383-1G>T (n.2383-1G>T)
c.2389-1G>T (n.2389-1G>T)
c.1096-1G>T (n.1096-1G>T)
n.782-1G>T
n.1535G>T
c.2788-1G>T (n.2788-1G>T)
c.2491-1G>T (n.2491-1G>T)
c.709-1G>T (n.709-1G>T)
c.2299-1G>T (n.2299-1G>T)
c.2023-1G>T (n.2023-1G>T)
c.2287-1G>T (n.2287-1G>T)
c.2485-1G>T (n.2485-1G>T)
c.2890-1G>T (n.2890-1G>T)
15g.22903906C=CA2163978189CYFIP1c.2383-1G= (n.2383-1G=)
c.2389-1G= (n.2389-1G=)
c.1096-1G= (n.1096-1G=)
n.782-1G=
n.1535G=
c.2788-1G= (n.2788-1G=)
c.2491-1G= (n.2491-1G=)
c.709-1G= (n.709-1G=)
c.2299-1G= (n.2299-1G=)
c.2023-1G= (n.2023-1G=)
c.2287-1G= (n.2287-1G=)
c.2485-1G= (n.2485-1G=)
c.2890-1G= (n.2890-1G=)
15g.22903906C>GCA391334916CYFIP1c.2383-1G>C (n.2383-1G>C)
c.2389-1G>C (n.2389-1G>C)
c.1096-1G>C (n.1096-1G>C)
n.782-1G>C
n.1535G>C
c.2788-1G>C (n.2788-1G>C)
c.2491-1G>C (n.2491-1G>C)
c.709-1G>C (n.709-1G>C)
c.2299-1G>C (n.2299-1G>C)
c.2023-1G>C (n.2023-1G>C)
c.2287-1G>C (n.2287-1G>C)
c.2485-1G>C (n.2485-1G>C)
c.2890-1G>C (n.2890-1G>C)
15g.22903906C>TCA391334918CYFIP1c.2383-1G>A (n.2383-1G>A)
c.2389-1G>A (n.2389-1G>A)
c.1096-1G>A (n.1096-1G>A)
n.782-1G>A
n.1535G>A
c.2788-1G>A (n.2788-1G>A)
c.2491-1G>A (n.2491-1G>A)
c.709-1G>A (n.709-1G>A)
c.2299-1G>A (n.2299-1G>A)
c.2023-1G>A (n.2023-1G>A)
c.2287-1G>A (n.2287-1G>A)
c.2485-1G>A (n.2485-1G>A)
c.2890-1G>A (n.2890-1G>A)
dbSNP
15g.22903907T>ACA391334921CYFIP1c.2383-2A>T (n.2383-2A>T)
c.2389-2A>T (n.2389-2A>T)
c.1096-2A>T (n.1096-2A>T)
n.782-2A>T
n.1534A>T
c.2788-2A>T (n.2788-2A>T)
c.2491-2A>T (n.2491-2A>T)
c.709-2A>T (n.709-2A>T)
c.2299-2A>T (n.2299-2A>T)
c.2023-2A>T (n.2023-2A>T)
c.2287-2A>T (n.2287-2A>T)
c.2485-2A>T (n.2485-2A>T)
c.2890-2A>T (n.2890-2A>T)
15g.22903907T>CCA391334922CYFIP1c.2383-2A>G (n.2383-2A>G)
c.2389-2A>G (n.2389-2A>G)
c.1096-2A>G (n.1096-2A>G)
n.782-2A>G
n.1534A>G
c.2788-2A>G (n.2788-2A>G)
c.2491-2A>G (n.2491-2A>G)
c.709-2A>G (n.709-2A>G)
c.2299-2A>G (n.2299-2A>G)
c.2023-2A>G (n.2023-2A>G)
c.2287-2A>G (n.2287-2A>G)
c.2485-2A>G (n.2485-2A>G)
c.2890-2A>G (n.2890-2A>G)
dbSNP gnomAD v3 gnomAD v4
15g.22903907T>GCA391334923CYFIP1c.2383-2A>C (n.2383-2A>C)
c.2389-2A>C (n.2389-2A>C)
c.1096-2A>C (n.1096-2A>C)
n.782-2A>C
n.1534A>C
c.2788-2A>C (n.2788-2A>C)
c.2491-2A>C (n.2491-2A>C)
c.709-2A>C (n.709-2A>C)
c.2299-2A>C (n.2299-2A>C)
c.2023-2A>C (n.2023-2A>C)
c.2287-2A>C (n.2287-2A>C)
c.2485-2A>C (n.2485-2A>C)
c.2890-2A>C (n.2890-2A>C)
15g.22903907T=CA2163978193CYFIP1c.2383-2A= (n.2383-2A=)
c.2389-2A= (n.2389-2A=)
c.1096-2A= (n.1096-2A=)
n.782-2A=
n.1534A=
c.2788-2A= (n.2788-2A=)
c.2491-2A= (n.2491-2A=)
c.709-2A= (n.709-2A=)
c.2299-2A= (n.2299-2A=)
c.2023-2A= (n.2023-2A=)
c.2287-2A= (n.2287-2A=)
c.2485-2A= (n.2485-2A=)
c.2890-2A= (n.2890-2A=)
15g.22903908G>ACA7425089CYFIP1c.2383-3C>T (n.2383-3C>T)
c.2389-3C>T (n.2389-3C>T)
c.1096-3C>T (n.1096-3C>T)
n.782-3C>T
n.1533C>T
c.2788-3C>T (n.2788-3C>T)
c.2491-3C>T (n.2491-3C>T)
c.709-3C>T (n.709-3C>T)
c.2299-3C>T (n.2299-3C>T)
c.2023-3C>T (n.2023-3C>T)
c.2287-3C>T (n.2287-3C>T)
c.2485-3C>T (n.2485-3C>T)
c.2890-3C>T (n.2890-3C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903908G>CCA7425090CYFIP1c.2383-3C>G (n.2383-3C>G)
c.2389-3C>G (n.2389-3C>G)
c.1096-3C>G (n.1096-3C>G)
n.782-3C>G
n.1533C>G
c.2788-3C>G (n.2788-3C>G)
c.2491-3C>G (n.2491-3C>G)
c.709-3C>G (n.709-3C>G)
c.2299-3C>G (n.2299-3C>G)
c.2023-3C>G (n.2023-3C>G)
c.2287-3C>G (n.2287-3C>G)
c.2485-3C>G (n.2485-3C>G)
c.2890-3C>G (n.2890-3C>G)
dbSNP ExAC gnomAD v3 gnomAD v4
15g.22903908G=CA2163978196CYFIP1c.2383-3C= (n.2383-3C=)
c.2389-3C= (n.2389-3C=)
c.1096-3C= (n.1096-3C=)
n.782-3C=
n.1533C=
c.2788-3C= (n.2788-3C=)
c.2491-3C= (n.2491-3C=)
c.709-3C= (n.709-3C=)
c.2299-3C= (n.2299-3C=)
c.2023-3C= (n.2023-3C=)
c.2287-3C= (n.2287-3C=)
c.2485-3C= (n.2485-3C=)
c.2890-3C= (n.2890-3C=)
15g.22903909T>CCA2627257803CYFIP1c.2383-4A>G (n.2383-4A>G)
c.2389-4A>G (n.2389-4A>G)
c.1096-4A>G (n.1096-4A>G)
n.782-4A>G
n.1532A>G
c.2788-4A>G (n.2788-4A>G)
c.2491-4A>G (n.2491-4A>G)
c.709-4A>G (n.709-4A>G)
c.2299-4A>G (n.2299-4A>G)
c.2023-4A>G (n.2023-4A>G)
c.2287-4A>G (n.2287-4A>G)
c.2485-4A>G (n.2485-4A>G)
c.2890-4A>G (n.2890-4A>G)
gnomAD v4
15g.22903909T>GCA967617339CYFIP1c.2383-4A>C (n.2383-4A>C)
c.2389-4A>C (n.2389-4A>C)
c.1096-4A>C (n.1096-4A>C)
n.782-4A>C
n.1532A>C
c.2788-4A>C (n.2788-4A>C)
c.2491-4A>C (n.2491-4A>C)
c.709-4A>C (n.709-4A>C)
c.2299-4A>C (n.2299-4A>C)
c.2023-4A>C (n.2023-4A>C)
c.2287-4A>C (n.2287-4A>C)
c.2485-4A>C (n.2485-4A>C)
c.2890-4A>C (n.2890-4A>C)
dbSNP gnomAD v3 gnomAD v4
15g.22903909T=CA2163978199CYFIP1c.2383-4A= (n.2383-4A=)
c.2389-4A= (n.2389-4A=)
c.1096-4A= (n.1096-4A=)
n.782-4A=
n.1532A=
c.2788-4A= (n.2788-4A=)
c.2491-4A= (n.2491-4A=)
c.709-4A= (n.709-4A=)
c.2299-4A= (n.2299-4A=)
c.2023-4A= (n.2023-4A=)
c.2287-4A= (n.2287-4A=)
c.2485-4A= (n.2485-4A=)
c.2890-4A= (n.2890-4A=)
15g.22903910G>ACA2575648568CYFIP1c.2383-5C>T (n.2383-5C>T)
c.2389-5C>T (n.2389-5C>T)
c.1096-5C>T (n.1096-5C>T)
n.782-5C>T
n.1531C>T
c.2788-5C>T (n.2788-5C>T)
c.2491-5C>T (n.2491-5C>T)
c.709-5C>T (n.709-5C>T)
c.2299-5C>T (n.2299-5C>T)
c.2023-5C>T (n.2023-5C>T)
c.2287-5C>T (n.2287-5C>T)
c.2485-5C>T (n.2485-5C>T)
c.2890-5C>T (n.2890-5C>T)
gnomAD v4
15g.22903911G>ACA2163978203CYFIP1c.2383-6C>T (n.2383-6C>T)
c.2389-6C>T (n.2389-6C>T)
c.1096-6C>T (n.1096-6C>T)
n.782-6C>T
n.1530C>T
c.2788-6C>T (n.2788-6C>T)
c.2491-6C>T (n.2491-6C>T)
c.709-6C>T (n.709-6C>T)
c.2299-6C>T (n.2299-6C>T)
c.2023-6C>T (n.2023-6C>T)
c.2287-6C>T (n.2287-6C>T)
c.2485-6C>T (n.2485-6C>T)
c.2890-6C>T (n.2890-6C>T)
dbSNP gnomAD v4
15g.22903911G=CA2163978201CYFIP1c.2383-6C= (n.2383-6C=)
c.2389-6C= (n.2389-6C=)
c.1096-6C= (n.1096-6C=)
n.782-6C=
n.1530C=
c.2788-6C= (n.2788-6C=)
c.2491-6C= (n.2491-6C=)
c.709-6C= (n.709-6C=)
c.2299-6C= (n.2299-6C=)
c.2023-6C= (n.2023-6C=)
c.2287-6C= (n.2287-6C=)
c.2485-6C= (n.2485-6C=)
c.2890-6C= (n.2890-6C=)
15g.22903912C>TCA2575648569CYFIP1c.2383-7G>A (n.2383-7G>A)
c.2389-7G>A (n.2389-7G>A)
c.1096-7G>A (n.1096-7G>A)
n.782-7G>A
n.1529G>A
c.2788-7G>A (n.2788-7G>A)
c.2491-7G>A (n.2491-7G>A)
c.709-7G>A (n.709-7G>A)
c.2299-7G>A (n.2299-7G>A)
c.2023-7G>A (n.2023-7G>A)
c.2287-7G>A (n.2287-7G>A)
c.2485-7G>A (n.2485-7G>A)
c.2890-7G>A (n.2890-7G>A)
gnomAD v4
15g.22903914_22903916dupCA7425085CYFIP1c.2383-9_2383-7dup (n.2383-9_2383-7dup)
c.2389-9_2389-7dup (n.2389-9_2389-7dup)
c.1096-9_1096-7dup (n.1096-9_1096-7dup)
n.782-9_782-7dup
n.1527_1529dup
c.2788-9_2788-7dup (n.2788-9_2788-7dup)
c.2491-9_2491-7dup (n.2491-9_2491-7dup)
c.709-9_709-7dup (n.709-9_709-7dup)
c.2299-9_2299-7dup (n.2299-9_2299-7dup)
c.2023-9_2023-7dup (n.2023-9_2023-7dup)
c.2287-9_2287-7dup (n.2287-9_2287-7dup)
c.2485-9_2485-7dup (n.2485-9_2485-7dup)
c.2890-9_2890-7dup (n.2890-9_2890-7dup)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.22903913A>CCA2627257804CYFIP1c.2383-8T>G (n.2383-8T>G)
c.2389-8T>G (n.2389-8T>G)
c.1096-8T>G (n.1096-8T>G)
n.782-8T>G
n.1528T>G
c.2788-8T>G (n.2788-8T>G)
c.2491-8T>G (n.2491-8T>G)
c.709-8T>G (n.709-8T>G)
c.2299-8T>G (n.2299-8T>G)
c.2023-8T>G (n.2023-8T>G)
c.2287-8T>G (n.2287-8T>G)
c.2485-8T>G (n.2485-8T>G)
c.2890-8T>G (n.2890-8T>G)
gnomAD v4
15g.22903914C>ACA7425088CYFIP1c.2383-9G>T (n.2383-9G>T)
c.2389-9G>T (n.2389-9G>T)
c.1096-9G>T (n.1096-9G>T)
n.782-9G>T
n.1527G>T
c.2788-9G>T (n.2788-9G>T)
c.2491-9G>T (n.2491-9G>T)
c.709-9G>T (n.709-9G>T)
c.2299-9G>T (n.2299-9G>T)
c.2023-9G>T (n.2023-9G>T)
c.2287-9G>T (n.2287-9G>T)
c.2485-9G>T (n.2485-9G>T)
c.2890-9G>T (n.2890-9G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.22903914C=CA2163978206CYFIP1c.2383-9G= (n.2383-9G=)
c.2389-9G= (n.2389-9G=)
c.1096-9G= (n.1096-9G=)
n.782-9G=
n.1527G=
c.2788-9G= (n.2788-9G=)
c.2491-9G= (n.2491-9G=)
c.709-9G= (n.709-9G=)
c.2299-9G= (n.2299-9G=)
c.2023-9G= (n.2023-9G=)
c.2287-9G= (n.2287-9G=)
c.2485-9G= (n.2485-9G=)
c.2890-9G= (n.2890-9G=)
15g.22903914C>GCA7425086CYFIP1c.2383-9G>C (n.2383-9G>C)
c.2389-9G>C (n.2389-9G>C)
c.1096-9G>C (n.1096-9G>C)
n.782-9G>C
n.1527G>C
c.2788-9G>C (n.2788-9G>C)
c.2491-9G>C (n.2491-9G>C)
c.709-9G>C (n.709-9G>C)
c.2299-9G>C (n.2299-9G>C)
c.2023-9G>C (n.2023-9G>C)
c.2287-9G>C (n.2287-9G>C)
c.2485-9G>C (n.2485-9G>C)
c.2890-9G>C (n.2890-9G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903914C>TCA7425087CYFIP1c.2383-9G>A (n.2383-9G>A)
c.2389-9G>A (n.2389-9G>A)
c.1096-9G>A (n.1096-9G>A)
n.782-9G>A
n.1527G>A
c.2788-9G>A (n.2788-9G>A)
c.2491-9G>A (n.2491-9G>A)
c.709-9G>A (n.709-9G>A)
c.2299-9G>A (n.2299-9G>A)
c.2023-9G>A (n.2023-9G>A)
c.2287-9G>A (n.2287-9G>A)
c.2485-9G>A (n.2485-9G>A)
c.2890-9G>A (n.2890-9G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903915C>TCA2575648570CYFIP1c.2383-10G>A (n.2383-10G>A)
c.2389-10G>A (n.2389-10G>A)
c.1096-10G>A (n.1096-10G>A)
n.782-10G>A
n.1526G>A
c.2788-10G>A (n.2788-10G>A)
c.2491-10G>A (n.2491-10G>A)
c.709-10G>A (n.709-10G>A)
c.2299-10G>A (n.2299-10G>A)
c.2023-10G>A (n.2023-10G>A)
c.2287-10G>A (n.2287-10G>A)
c.2485-10G>A (n.2485-10G>A)
c.2890-10G>A (n.2890-10G>A)
15g.22903916A=CA2163978207CYFIP1c.2383-11T= (n.2383-11T=)
c.2389-11T= (n.2389-11T=)
c.1096-11T= (n.1096-11T=)
n.782-11T=
n.1525T=
c.2788-11T= (n.2788-11T=)
c.2491-11T= (n.2491-11T=)
c.709-11T= (n.709-11T=)
c.2299-11T= (n.2299-11T=)
c.2023-11T= (n.2023-11T=)
c.2287-11T= (n.2287-11T=)
c.2485-11T= (n.2485-11T=)
c.2890-11T= (n.2890-11T=)
15g.22903916A>CCA2730305521CYFIP1c.2383-11T>G (n.2383-11T>G)
c.2389-11T>G (n.2389-11T>G)
c.1096-11T>G (n.1096-11T>G)
n.782-11T>G
n.1525T>G
c.2788-11T>G (n.2788-11T>G)
c.2491-11T>G (n.2491-11T>G)
c.709-11T>G (n.709-11T>G)
c.2299-11T>G (n.2299-11T>G)
c.2023-11T>G (n.2023-11T>G)
c.2287-11T>G (n.2287-11T>G)
c.2485-11T>G (n.2485-11T>G)
c.2890-11T>G (n.2890-11T>G)
dbSNP
15g.22903916A>GCA2163978208CYFIP1c.2383-11T>C (n.2383-11T>C)
c.2389-11T>C (n.2389-11T>C)
c.1096-11T>C (n.1096-11T>C)
n.782-11T>C
n.1525T>C
c.2788-11T>C (n.2788-11T>C)
c.2491-11T>C (n.2491-11T>C)
c.709-11T>C (n.709-11T>C)
c.2299-11T>C (n.2299-11T>C)
c.2023-11T>C (n.2023-11T>C)
c.2287-11T>C (n.2287-11T>C)
c.2485-11T>C (n.2485-11T>C)
c.2890-11T>C (n.2890-11T>C)
dbSNP gnomAD v4
15g.22903918A=CA2163978209CYFIP1c.2383-13T= (n.2383-13T=)
c.2389-13T= (n.2389-13T=)
c.1096-13T= (n.1096-13T=)
n.782-13T=
n.1523T=
c.2788-13T= (n.2788-13T=)
c.2491-13T= (n.2491-13T=)
c.709-13T= (n.709-13T=)
c.2299-13T= (n.2299-13T=)
c.2023-13T= (n.2023-13T=)
c.2287-13T= (n.2287-13T=)
c.2485-13T= (n.2485-13T=)
c.2890-13T= (n.2890-13T=)
15g.22903918A>GCA2163978210CYFIP1c.2383-13T>C (n.2383-13T>C)
c.2389-13T>C (n.2389-13T>C)
c.1096-13T>C (n.1096-13T>C)
n.782-13T>C
n.1523T>C
c.2788-13T>C (n.2788-13T>C)
c.2491-13T>C (n.2491-13T>C)
c.709-13T>C (n.709-13T>C)
c.2299-13T>C (n.2299-13T>C)
c.2023-13T>C (n.2023-13T>C)
c.2287-13T>C (n.2287-13T>C)
c.2485-13T>C (n.2485-13T>C)
c.2890-13T>C (n.2890-13T>C)
dbSNP gnomAD v4
15g.22903918A>TCA617083416CYFIP1c.2383-13T>A (n.2383-13T>A)
c.2389-13T>A (n.2389-13T>A)
c.1096-13T>A (n.1096-13T>A)
n.782-13T>A
n.1523T>A
c.2788-13T>A (n.2788-13T>A)
c.2491-13T>A (n.2491-13T>A)
c.709-13T>A (n.709-13T>A)
c.2299-13T>A (n.2299-13T>A)
c.2023-13T>A (n.2023-13T>A)
c.2287-13T>A (n.2287-13T>A)
c.2485-13T>A (n.2485-13T>A)
c.2890-13T>A (n.2890-13T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.22903919G>ACA711270235CYFIP1c.2383-14C>T (n.2383-14C>T)
c.2389-14C>T (n.2389-14C>T)
c.1096-14C>T (n.1096-14C>T)
n.782-14C>T
n.1522C>T
c.2788-14C>T (n.2788-14C>T)
c.2491-14C>T (n.2491-14C>T)
c.709-14C>T (n.709-14C>T)
c.2299-14C>T (n.2299-14C>T)
c.2023-14C>T (n.2023-14C>T)
c.2287-14C>T (n.2287-14C>T)
c.2485-14C>T (n.2485-14C>T)
c.2890-14C>T (n.2890-14C>T)
dbSNP gnomAD v3 gnomAD v4
15g.22903919G>CCA2803371902CYFIP1c.2383-14C>G (n.2383-14C>G)
c.2389-14C>G (n.2389-14C>G)
c.1096-14C>G (n.1096-14C>G)
n.782-14C>G
n.1522C>G
c.2788-14C>G (n.2788-14C>G)
c.2491-14C>G (n.2491-14C>G)
c.709-14C>G (n.709-14C>G)
c.2299-14C>G (n.2299-14C>G)
c.2023-14C>G (n.2023-14C>G)
c.2287-14C>G (n.2287-14C>G)
c.2485-14C>G (n.2485-14C>G)
c.2890-14C>G (n.2890-14C>G)
15g.22903919G=CA2163978211CYFIP1c.2383-14C= (n.2383-14C=)
c.2389-14C= (n.2389-14C=)
c.1096-14C= (n.1096-14C=)
n.782-14C=
n.1522C=
c.2788-14C= (n.2788-14C=)
c.2491-14C= (n.2491-14C=)
c.709-14C= (n.709-14C=)
c.2299-14C= (n.2299-14C=)
c.2023-14C= (n.2023-14C=)
c.2287-14C= (n.2287-14C=)
c.2485-14C= (n.2485-14C=)
c.2890-14C= (n.2890-14C=)
15g.22903921_22903922delinsCACA2163978213CYFIP1c.2383-17_2383-16delinsTG (n.2383-17_2383-16delinsTG)
c.2389-17_2389-16delinsTG (n.2389-17_2389-16delinsTG)
c.1096-17_1096-16delinsTG (n.1096-17_1096-16delinsTG)
n.782-17_782-16delinsTG
n.1519_1520delinsTG
c.2788-17_2788-16delinsTG (n.2788-17_2788-16delinsTG)
c.2491-17_2491-16delinsTG (n.2491-17_2491-16delinsTG)
c.709-17_709-16delinsTG (n.709-17_709-16delinsTG)
c.2299-17_2299-16delinsTG (n.2299-17_2299-16delinsTG)
c.2023-17_2023-16delinsTG (n.2023-17_2023-16delinsTG)
c.2287-17_2287-16delinsTG (n.2287-17_2287-16delinsTG)
c.2485-17_2485-16delinsTG (n.2485-17_2485-16delinsTG)
c.2890-17_2890-16delinsTG (n.2890-17_2890-16delinsTG)
15g.22903921_22903923delinsCAGCA2163978212CYFIP1c.2383-18_2383-16delinsCTG (n.2383-18_2383-16delinsCTG)
c.2389-18_2389-16delinsCTG (n.2389-18_2389-16delinsCTG)
c.1096-18_1096-16delinsCTG (n.1096-18_1096-16delinsCTG)
n.782-18_782-16delinsCTG
n.1518_1520delinsCTG
c.2788-18_2788-16delinsCTG (n.2788-18_2788-16delinsCTG)
c.2491-18_2491-16delinsCTG (n.2491-18_2491-16delinsCTG)
c.709-18_709-16delinsCTG (n.709-18_709-16delinsCTG)
c.2299-18_2299-16delinsCTG (n.2299-18_2299-16delinsCTG)
c.2023-18_2023-16delinsCTG (n.2023-18_2023-16delinsCTG)
c.2287-18_2287-16delinsCTG (n.2287-18_2287-16delinsCTG)
c.2485-18_2485-16delinsCTG (n.2485-18_2485-16delinsCTG)
c.2890-18_2890-16delinsCTG (n.2890-18_2890-16delinsCTG)
15g.22903922delCA711270239CYFIP1c.2383-17del (n.2383-17del)
c.2389-17del (n.2389-17del)
c.1096-17del (n.1096-17del)
n.782-17del
n.1519del
c.2788-17del (n.2788-17del)
c.2491-17del (n.2491-17del)
c.709-17del (n.709-17del)
c.2299-17del (n.2299-17del)
c.2023-17del (n.2023-17del)
c.2287-17del (n.2287-17del)
c.2485-17del (n.2485-17del)
c.2890-17del (n.2890-17del)
dbSNP gnomAD v3 gnomAD v4
15g.22903922A=CA2163978214CYFIP1c.2383-17T= (n.2383-17T=)
c.2389-17T= (n.2389-17T=)
c.1096-17T= (n.1096-17T=)
n.782-17T=
n.1519T=
c.2788-17T= (n.2788-17T=)
c.2491-17T= (n.2491-17T=)
c.709-17T= (n.709-17T=)
c.2299-17T= (n.2299-17T=)
c.2023-17T= (n.2023-17T=)
c.2287-17T= (n.2287-17T=)
c.2485-17T= (n.2485-17T=)
c.2890-17T= (n.2890-17T=)
15g.22903922A>GCA7425084CYFIP1c.2383-17T>C (n.2383-17T>C)
c.2389-17T>C (n.2389-17T>C)
c.1096-17T>C (n.1096-17T>C)
n.782-17T>C
n.1519T>C
c.2788-17T>C (n.2788-17T>C)
c.2491-17T>C (n.2491-17T>C)
c.709-17T>C (n.709-17T>C)
c.2299-17T>C (n.2299-17T>C)
c.2023-17T>C (n.2023-17T>C)
c.2287-17T>C (n.2287-17T>C)
c.2485-17T>C (n.2485-17T>C)
c.2890-17T>C (n.2890-17T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.22903922_22903923delCA7425083CYFIP1c.2383-18_2383-17del (n.2383-18_2383-17del)
c.2389-18_2389-17del (n.2389-18_2389-17del)
c.1096-18_1096-17del (n.1096-18_1096-17del)
n.782-18_782-17del
n.1518_1519del
c.2788-18_2788-17del (n.2788-18_2788-17del)
c.2491-18_2491-17del (n.2491-18_2491-17del)
c.709-18_709-17del (n.709-18_709-17del)
c.2299-18_2299-17del (n.2299-18_2299-17del)
c.2023-18_2023-17del (n.2023-18_2023-17del)
c.2287-18_2287-17del (n.2287-18_2287-17del)
c.2485-18_2485-17del (n.2485-18_2485-17del)
c.2890-18_2890-17del (n.2890-18_2890-17del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903922_22903923delinsAGCA2163978215CYFIP1c.2383-18_2383-17delinsCT (n.2383-18_2383-17delinsCT)
c.2389-18_2389-17delinsCT (n.2389-18_2389-17delinsCT)
c.1096-18_1096-17delinsCT (n.1096-18_1096-17delinsCT)
n.782-18_782-17delinsCT
n.1518_1519delinsCT
c.2788-18_2788-17delinsCT (n.2788-18_2788-17delinsCT)
c.2491-18_2491-17delinsCT (n.2491-18_2491-17delinsCT)
c.709-18_709-17delinsCT (n.709-18_709-17delinsCT)
c.2299-18_2299-17delinsCT (n.2299-18_2299-17delinsCT)
c.2023-18_2023-17delinsCT (n.2023-18_2023-17delinsCT)
c.2287-18_2287-17delinsCT (n.2287-18_2287-17delinsCT)
c.2485-18_2485-17delinsCT (n.2485-18_2485-17delinsCT)
c.2890-18_2890-17delinsCT (n.2890-18_2890-17delinsCT)
15g.22903923G>ACA2163978216CYFIP1c.2383-18C>T (n.2383-18C>T)
c.2389-18C>T (n.2389-18C>T)
c.1096-18C>T (n.1096-18C>T)
n.782-18C>T
n.1518C>T
c.2788-18C>T (n.2788-18C>T)
c.2491-18C>T (n.2491-18C>T)
c.709-18C>T (n.709-18C>T)
c.2299-18C>T (n.2299-18C>T)
c.2023-18C>T (n.2023-18C>T)
c.2287-18C>T (n.2287-18C>T)
c.2485-18C>T (n.2485-18C>T)
c.2890-18C>T (n.2890-18C>T)
dbSNP gnomAD v4
15g.22903923G=CA2163978217CYFIP1c.2383-18C= (n.2383-18C=)
c.2389-18C= (n.2389-18C=)
c.1096-18C= (n.1096-18C=)
n.782-18C=
n.1518C=
c.2788-18C= (n.2788-18C=)
c.2491-18C= (n.2491-18C=)
c.709-18C= (n.709-18C=)
c.2299-18C= (n.2299-18C=)
c.2023-18C= (n.2023-18C=)
c.2287-18C= (n.2287-18C=)
c.2485-18C= (n.2485-18C=)
c.2890-18C= (n.2890-18C=)
15g.22903923G>TCA617083418CYFIP1c.2383-18C>A (n.2383-18C>A)
c.2389-18C>A (n.2389-18C>A)
c.1096-18C>A (n.1096-18C>A)
n.782-18C>A
n.1518C>A
c.2788-18C>A (n.2788-18C>A)
c.2491-18C>A (n.2491-18C>A)
c.709-18C>A (n.709-18C>A)
c.2299-18C>A (n.2299-18C>A)
c.2023-18C>A (n.2023-18C>A)
c.2287-18C>A (n.2287-18C>A)
c.2485-18C>A (n.2485-18C>A)
c.2890-18C>A (n.2890-18C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.22903926delCA617083417CYFIP1c.2383-18del (n.2383-18del)
c.2389-18del (n.2389-18del)
c.1096-18del (n.1096-18del)
n.782-18del
n.1518del
c.2788-18del (n.2788-18del)
c.2491-18del (n.2491-18del)
c.709-18del (n.709-18del)
c.2299-18del (n.2299-18del)
c.2023-18del (n.2023-18del)
c.2287-18del (n.2287-18del)
c.2485-18del (n.2485-18del)
c.2890-18del (n.2890-18del)
dbSNP gnomAD v2

Number of alleles fetched