Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.22903822C>A | CA391334587 | CYFIP1 | c.2466G>T (p.Met822Ile) c.2472G>T (p.Met824Ile) c.1179G>T (p.Met393Ile) n.865G>T n.1619G>T c.2871G>T (p.Met957Ile) c.2574G>T (p.Met858Ile) c.792G>T (p.Met264Ile) c.2382G>T (p.Met794Ile) c.2106G>T (p.Met702Ile) c.2370G>T (p.Met790Ile) c.2568G>T (p.Met856Ile) c.2973G>T (p.Met991Ile) | |
15 | g.22903822C= | CA2163978052 | CYFIP1 | c.2466G= (p.Met822=) c.2472G= (p.Met824=) c.1179G= (p.Met393=) n.865G= n.1619G= c.2871G= (p.Met957=) c.2574G= (p.Met858=) c.792G= (p.Met264=) c.2382G= (p.Met794=) c.2106G= (p.Met702=) c.2370G= (p.Met790=) c.2568G= (p.Met856=) c.2973G= (p.Met991=) | |
15 | g.22903822C>G | CA391334588 | CYFIP1 | c.2466G>C (p.Met822Ile) c.2472G>C (p.Met824Ile) c.1179G>C (p.Met393Ile) n.865G>C n.1619G>C c.2871G>C (p.Met957Ile) c.2574G>C (p.Met858Ile) c.792G>C (p.Met264Ile) c.2382G>C (p.Met794Ile) c.2106G>C (p.Met702Ile) c.2370G>C (p.Met790Ile) c.2568G>C (p.Met856Ile) c.2973G>C (p.Met991Ile) | |
15 | g.22903822C>T | CA391334586 | CYFIP1 | c.2466G>A (p.Met822Ile) c.2472G>A (p.Met824Ile) c.1179G>A (p.Met393Ile) n.865G>A n.1619G>A c.2871G>A (p.Met957Ile) c.2574G>A (p.Met858Ile) c.792G>A (p.Met264Ile) c.2382G>A (p.Met794Ile) c.2106G>A (p.Met702Ile) c.2370G>A (p.Met790Ile) c.2568G>A (p.Met856Ile) c.2973G>A (p.Met991Ile) | dbSNP gnomAD v4 |
15 | g.22903823A= | CA2163978055 | CYFIP1 | c.2465T= (p.Met822=) c.2471T= (p.Met824=) c.1178T= (p.Met393=) n.864T= n.1618T= c.2870T= (p.Met957=) c.2573T= (p.Met858=) c.791T= (p.Met264=) c.2381T= (p.Met794=) c.2105T= (p.Met702=) c.2369T= (p.Met790=) c.2567T= (p.Met856=) c.2972T= (p.Met991=) | |
15 | g.22903823A>C | CA391334590 | CYFIP1 | c.2465T>G (p.Met822Arg) c.2471T>G (p.Met824Arg) c.1178T>G (p.Met393Arg) n.864T>G n.1618T>G c.2870T>G (p.Met957Arg) c.2573T>G (p.Met858Arg) c.791T>G (p.Met264Arg) c.2381T>G (p.Met794Arg) c.2105T>G (p.Met702Arg) c.2369T>G (p.Met790Arg) c.2567T>G (p.Met856Arg) c.2972T>G (p.Met991Arg) | |
15 | g.22903823A>G | CA391334592 | CYFIP1 | c.2465T>C (p.Met822Thr) c.2471T>C (p.Met824Thr) c.1178T>C (p.Met393Thr) n.864T>C n.1618T>C c.2870T>C (p.Met957Thr) c.2573T>C (p.Met858Thr) c.791T>C (p.Met264Thr) c.2381T>C (p.Met794Thr) c.2105T>C (p.Met702Thr) c.2369T>C (p.Met790Thr) c.2567T>C (p.Met856Thr) c.2972T>C (p.Met991Thr) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903823A>T | CA391334594 | CYFIP1 | c.2465T>A (p.Met822Lys) c.2471T>A (p.Met824Lys) c.1178T>A (p.Met393Lys) n.864T>A n.1618T>A c.2870T>A (p.Met957Lys) c.2573T>A (p.Met858Lys) c.791T>A (p.Met264Lys) c.2381T>A (p.Met794Lys) c.2105T>A (p.Met702Lys) c.2369T>A (p.Met790Lys) c.2567T>A (p.Met856Lys) c.2972T>A (p.Met991Lys) | |
15 | g.22903824T>A | CA391334596 | CYFIP1 | c.2464A>T (p.Met822Leu) c.2470A>T (p.Met824Leu) c.1177A>T (p.Met393Leu) n.863A>T n.1617A>T c.2869A>T (p.Met957Leu) c.2572A>T (p.Met858Leu) c.790A>T (p.Met264Leu) c.2380A>T (p.Met794Leu) c.2104A>T (p.Met702Leu) c.2368A>T (p.Met790Leu) c.2566A>T (p.Met856Leu) c.2971A>T (p.Met991Leu) | |
15 | g.22903824T>C | CA7425110 | CYFIP1 | c.2464A>G (p.Met822Val) c.2470A>G (p.Met824Val) c.1177A>G (p.Met393Val) n.863A>G n.1617A>G c.2869A>G (p.Met957Val) c.2572A>G (p.Met858Val) c.790A>G (p.Met264Val) c.2380A>G (p.Met794Val) c.2104A>G (p.Met702Val) c.2368A>G (p.Met790Val) c.2566A>G (p.Met856Val) c.2971A>G (p.Met991Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903824T>G | CA391334598 | CYFIP1 | c.2464A>C (p.Met822Leu) c.2470A>C (p.Met824Leu) c.1177A>C (p.Met393Leu) n.863A>C n.1617A>C c.2869A>C (p.Met957Leu) c.2572A>C (p.Met858Leu) c.790A>C (p.Met264Leu) c.2380A>C (p.Met794Leu) c.2104A>C (p.Met702Leu) c.2368A>C (p.Met790Leu) c.2566A>C (p.Met856Leu) c.2971A>C (p.Met991Leu) | gnomAD v4 |
15 | g.22903824T= | CA2163978058 | CYFIP1 | c.2464A= (p.Met822=) c.2470A= (p.Met824=) c.1177A= (p.Met393=) n.863A= n.1617A= c.2869A= (p.Met957=) c.2572A= (p.Met858=) c.790A= (p.Met264=) c.2380A= (p.Met794=) c.2104A= (p.Met702=) c.2368A= (p.Met790=) c.2566A= (p.Met856=) c.2971A= (p.Met991=) | |
15 | g.22903825G>A | CA488526478 | CYFIP1 | c.2463C>T (p.Ala821=) c.2469C>T (p.Ala823=) c.1176C>T (p.Ala392=) n.862C>T n.1616C>T c.2868C>T (p.Ala956=) c.2571C>T (p.Ala857=) c.789C>T (p.Ala263=) c.2379C>T (p.Ala793=) c.2103C>T (p.Ala701=) c.2367C>T (p.Ala789=) c.2565C>T (p.Ala855=) c.2970C>T (p.Ala990=) | |
15 | g.22903825G>C | CA488526479 | CYFIP1 | c.2463C>G (p.Ala821=) c.2469C>G (p.Ala823=) c.1176C>G (p.Ala392=) n.862C>G n.1616C>G c.2868C>G (p.Ala956=) c.2571C>G (p.Ala857=) c.789C>G (p.Ala263=) c.2379C>G (p.Ala793=) c.2103C>G (p.Ala701=) c.2367C>G (p.Ala789=) c.2565C>G (p.Ala855=) c.2970C>G (p.Ala990=) | |
15 | g.22903825G>T | CA488526480 | CYFIP1 | c.2463C>A (p.Ala821=) c.2469C>A (p.Ala823=) c.1176C>A (p.Ala392=) n.862C>A n.1616C>A c.2868C>A (p.Ala956=) c.2571C>A (p.Ala857=) c.789C>A (p.Ala263=) c.2379C>A (p.Ala793=) c.2103C>A (p.Ala701=) c.2367C>A (p.Ala789=) c.2565C>A (p.Ala855=) c.2970C>A (p.Ala990=) | |
15 | g.22903826G>A | CA391334600 | CYFIP1 | c.2462C>T (p.Ala821Val) c.2468C>T (p.Ala823Val) c.1175C>T (p.Ala392Val) n.861C>T n.1615C>T c.2867C>T (p.Ala956Val) c.2570C>T (p.Ala857Val) c.788C>T (p.Ala263Val) c.2378C>T (p.Ala793Val) c.2102C>T (p.Ala701Val) c.2366C>T (p.Ala789Val) c.2564C>T (p.Ala855Val) c.2969C>T (p.Ala990Val) | |
15 | g.22903826G>C | CA391334602 | CYFIP1 | c.2462C>G (p.Ala821Gly) c.2468C>G (p.Ala823Gly) c.1175C>G (p.Ala392Gly) n.861C>G n.1615C>G c.2867C>G (p.Ala956Gly) c.2570C>G (p.Ala857Gly) c.788C>G (p.Ala263Gly) c.2378C>G (p.Ala793Gly) c.2102C>G (p.Ala701Gly) c.2366C>G (p.Ala789Gly) c.2564C>G (p.Ala855Gly) c.2969C>G (p.Ala990Gly) | |
15 | g.22903826G>T | CA391334604 | CYFIP1 | c.2462C>A (p.Ala821Asp) c.2468C>A (p.Ala823Asp) c.1175C>A (p.Ala392Asp) n.861C>A n.1615C>A c.2867C>A (p.Ala956Asp) c.2570C>A (p.Ala857Asp) c.788C>A (p.Ala263Asp) c.2378C>A (p.Ala793Asp) c.2102C>A (p.Ala701Asp) c.2366C>A (p.Ala789Asp) c.2564C>A (p.Ala855Asp) c.2969C>A (p.Ala990Asp) | |
15 | g.22903827C>A | CA391334605 | CYFIP1 | c.2461G>T (p.Ala821Ser) c.2467G>T (p.Ala823Ser) c.1174G>T (p.Ala392Ser) n.860G>T n.1614G>T c.2866G>T (p.Ala956Ser) c.2569G>T (p.Ala857Ser) c.787G>T (p.Ala263Ser) c.2377G>T (p.Ala793Ser) c.2101G>T (p.Ala701Ser) c.2365G>T (p.Ala789Ser) c.2563G>T (p.Ala855Ser) c.2968G>T (p.Ala990Ser) | |
15 | g.22903827C= | CA2163978061 | CYFIP1 | c.2461G= (p.Ala821=) c.2467G= (p.Ala823=) c.1174G= (p.Ala392=) n.860G= n.1614G= c.2866G= (p.Ala956=) c.2569G= (p.Ala857=) c.787G= (p.Ala263=) c.2377G= (p.Ala793=) c.2101G= (p.Ala701=) c.2365G= (p.Ala789=) c.2563G= (p.Ala855=) c.2968G= (p.Ala990=) | |
15 | g.22903827C>G | CA391334606 | CYFIP1 | c.2461G>C (p.Ala821Pro) c.2467G>C (p.Ala823Pro) c.1174G>C (p.Ala392Pro) n.860G>C n.1614G>C c.2866G>C (p.Ala956Pro) c.2569G>C (p.Ala857Pro) c.787G>C (p.Ala263Pro) c.2377G>C (p.Ala793Pro) c.2101G>C (p.Ala701Pro) c.2365G>C (p.Ala789Pro) c.2563G>C (p.Ala855Pro) c.2968G>C (p.Ala990Pro) | |
15 | g.22903827C>T | CA7425109 | CYFIP1 | c.2461G>A (p.Ala821Thr) c.2467G>A (p.Ala823Thr) c.1174G>A (p.Ala392Thr) n.860G>A n.1614G>A c.2866G>A (p.Ala956Thr) c.2569G>A (p.Ala857Thr) c.787G>A (p.Ala263Thr) c.2377G>A (p.Ala793Thr) c.2101G>A (p.Ala701Thr) c.2365G>A (p.Ala789Thr) c.2563G>A (p.Ala855Thr) c.2968G>A (p.Ala990Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903828G>A | CA7425108 | CYFIP1 | c.2460C>T (p.Asp820=) c.2466C>T (p.Asp822=) c.1173C>T (p.Asp391=) n.859C>T n.1613C>T c.2865C>T (p.Asp955=) c.2568C>T (p.Asp856=) c.786C>T (p.Asp262=) c.2376C>T (p.Asp792=) c.2100C>T (p.Asp700=) c.2364C>T (p.Asp788=) c.2562C>T (p.Asp854=) c.2967C>T (p.Asp989=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903828G>C | CA391334611 | CYFIP1 | c.2460C>G (p.Asp820Glu) c.2466C>G (p.Asp822Glu) c.1173C>G (p.Asp391Glu) n.859C>G n.1613C>G c.2865C>G (p.Asp955Glu) c.2568C>G (p.Asp856Glu) c.786C>G (p.Asp262Glu) c.2376C>G (p.Asp792Glu) c.2100C>G (p.Asp700Glu) c.2364C>G (p.Asp788Glu) c.2562C>G (p.Asp854Glu) c.2967C>G (p.Asp989Glu) | |
15 | g.22903828G= | CA2163978064 | CYFIP1 | c.2460C= (p.Asp820=) c.2466C= (p.Asp822=) c.1173C= (p.Asp391=) n.859C= n.1613C= c.2865C= (p.Asp955=) c.2568C= (p.Asp856=) c.786C= (p.Asp262=) c.2376C= (p.Asp792=) c.2100C= (p.Asp700=) c.2364C= (p.Asp788=) c.2562C= (p.Asp854=) c.2967C= (p.Asp989=) | |
15 | g.22903828G>T | CA391334610 | CYFIP1 | c.2460C>A (p.Asp820Glu) c.2466C>A (p.Asp822Glu) c.1173C>A (p.Asp391Glu) n.859C>A n.1613C>A c.2865C>A (p.Asp955Glu) c.2568C>A (p.Asp856Glu) c.786C>A (p.Asp262Glu) c.2376C>A (p.Asp792Glu) c.2100C>A (p.Asp700Glu) c.2364C>A (p.Asp788Glu) c.2562C>A (p.Asp854Glu) c.2967C>A (p.Asp989Glu) | |
15 | g.22903829T>A | CA391334614 | CYFIP1 | c.2459A>T (p.Asp820Val) c.2465A>T (p.Asp822Val) c.1172A>T (p.Asp391Val) n.858A>T n.1612A>T c.2864A>T (p.Asp955Val) c.2567A>T (p.Asp856Val) c.785A>T (p.Asp262Val) c.2375A>T (p.Asp792Val) c.2099A>T (p.Asp700Val) c.2363A>T (p.Asp788Val) c.2561A>T (p.Asp854Val) c.2966A>T (p.Asp989Val) | |
15 | g.22903829T>C | CA391334616 | CYFIP1 | c.2459A>G (p.Asp820Gly) c.2465A>G (p.Asp822Gly) c.1172A>G (p.Asp391Gly) n.858A>G n.1612A>G c.2864A>G (p.Asp955Gly) c.2567A>G (p.Asp856Gly) c.785A>G (p.Asp262Gly) c.2375A>G (p.Asp792Gly) c.2099A>G (p.Asp700Gly) c.2363A>G (p.Asp788Gly) c.2561A>G (p.Asp854Gly) c.2966A>G (p.Asp989Gly) | |
15 | g.22903829T>G | CA391334617 | CYFIP1 | c.2459A>C (p.Asp820Ala) c.2465A>C (p.Asp822Ala) c.1172A>C (p.Asp391Ala) n.858A>C n.1612A>C c.2864A>C (p.Asp955Ala) c.2567A>C (p.Asp856Ala) c.785A>C (p.Asp262Ala) c.2375A>C (p.Asp792Ala) c.2099A>C (p.Asp700Ala) c.2363A>C (p.Asp788Ala) c.2561A>C (p.Asp854Ala) c.2966A>C (p.Asp989Ala) | gnomAD v4 |
15 | g.22903830C>A | CA391334619 | CYFIP1 | c.2458G>T (p.Asp820Tyr) c.2464G>T (p.Asp822Tyr) c.1171G>T (p.Asp391Tyr) n.857G>T n.1611G>T c.2863G>T (p.Asp955Tyr) c.2566G>T (p.Asp856Tyr) c.784G>T (p.Asp262Tyr) c.2374G>T (p.Asp792Tyr) c.2098G>T (p.Asp700Tyr) c.2362G>T (p.Asp788Tyr) c.2560G>T (p.Asp854Tyr) c.2965G>T (p.Asp989Tyr) | gnomAD v4 |
15 | g.22903830C= | CA2163978066 | CYFIP1 | c.2458G= (p.Asp820=) c.2464G= (p.Asp822=) c.1171G= (p.Asp391=) n.857G= n.1611G= c.2863G= (p.Asp955=) c.2566G= (p.Asp856=) c.784G= (p.Asp262=) c.2374G= (p.Asp792=) c.2098G= (p.Asp700=) c.2362G= (p.Asp788=) c.2560G= (p.Asp854=) c.2965G= (p.Asp989=) | |
15 | g.22903830C>G | CA391334621 | CYFIP1 | c.2458G>C (p.Asp820His) c.2464G>C (p.Asp822His) c.1171G>C (p.Asp391His) n.857G>C n.1611G>C c.2863G>C (p.Asp955His) c.2566G>C (p.Asp856His) c.784G>C (p.Asp262His) c.2374G>C (p.Asp792His) c.2098G>C (p.Asp700His) c.2362G>C (p.Asp788His) c.2560G>C (p.Asp854His) c.2965G>C (p.Asp989His) | |
15 | g.22903830C>T | CA7425107 | CYFIP1 | c.2458G>A (p.Asp820Asn) c.2464G>A (p.Asp822Asn) c.1171G>A (p.Asp391Asn) n.857G>A n.1611G>A c.2863G>A (p.Asp955Asn) c.2566G>A (p.Asp856Asn) c.784G>A (p.Asp262Asn) c.2374G>A (p.Asp792Asn) c.2098G>A (p.Asp700Asn) c.2362G>A (p.Asp788Asn) c.2560G>A (p.Asp854Asn) c.2965G>A (p.Asp989Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903831G>A | CA7425106 | CYFIP1 | c.2457C>T (p.Phe819=) c.2463C>T (p.Phe821=) c.1170C>T (p.Phe390=) n.856C>T n.1610C>T c.2862C>T (p.Phe954=) c.2565C>T (p.Phe855=) c.783C>T (p.Phe261=) c.2373C>T (p.Phe791=) c.2097C>T (p.Phe699=) c.2361C>T (p.Phe787=) c.2559C>T (p.Phe853=) c.2964C>T (p.Phe988=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903831G>C | CA391334625 | CYFIP1 | c.2457C>G (p.Phe819Leu) c.2463C>G (p.Phe821Leu) c.1170C>G (p.Phe390Leu) n.856C>G n.1610C>G c.2862C>G (p.Phe954Leu) c.2565C>G (p.Phe855Leu) c.783C>G (p.Phe261Leu) c.2373C>G (p.Phe791Leu) c.2097C>G (p.Phe699Leu) c.2361C>G (p.Phe787Leu) c.2559C>G (p.Phe853Leu) c.2964C>G (p.Phe988Leu) | |
15 | g.22903831G= | CA2163978069 | CYFIP1 | c.2457C= (p.Phe819=) c.2463C= (p.Phe821=) c.1170C= (p.Phe390=) n.856C= n.1610C= c.2862C= (p.Phe954=) c.2565C= (p.Phe855=) c.783C= (p.Phe261=) c.2373C= (p.Phe791=) c.2097C= (p.Phe699=) c.2361C= (p.Phe787=) c.2559C= (p.Phe853=) c.2964C= (p.Phe988=) | |
15 | g.22903831G>T | CA391334627 | CYFIP1 | c.2457C>A (p.Phe819Leu) c.2463C>A (p.Phe821Leu) c.1170C>A (p.Phe390Leu) n.856C>A n.1610C>A c.2862C>A (p.Phe954Leu) c.2565C>A (p.Phe855Leu) c.783C>A (p.Phe261Leu) c.2373C>A (p.Phe791Leu) c.2097C>A (p.Phe699Leu) c.2361C>A (p.Phe787Leu) c.2559C>A (p.Phe853Leu) c.2964C>A (p.Phe988Leu) | |
15 | g.22903832A>C | CA391334629 | CYFIP1 | c.2456T>G (p.Phe819Cys) c.2462T>G (p.Phe821Cys) c.1169T>G (p.Phe390Cys) n.855T>G n.1609T>G c.2861T>G (p.Phe954Cys) c.2564T>G (p.Phe855Cys) c.782T>G (p.Phe261Cys) c.2372T>G (p.Phe791Cys) c.2096T>G (p.Phe699Cys) c.2360T>G (p.Phe787Cys) c.2558T>G (p.Phe853Cys) c.2963T>G (p.Phe988Cys) | |
15 | g.22903832A>G | CA391334630 | CYFIP1 | c.2456T>C (p.Phe819Ser) c.2462T>C (p.Phe821Ser) c.1169T>C (p.Phe390Ser) n.855T>C n.1609T>C c.2861T>C (p.Phe954Ser) c.2564T>C (p.Phe855Ser) c.782T>C (p.Phe261Ser) c.2372T>C (p.Phe791Ser) c.2096T>C (p.Phe699Ser) c.2360T>C (p.Phe787Ser) c.2558T>C (p.Phe853Ser) c.2963T>C (p.Phe988Ser) | |
15 | g.22903832A>T | CA391334632 | CYFIP1 | c.2456T>A (p.Phe819Tyr) c.2462T>A (p.Phe821Tyr) c.1169T>A (p.Phe390Tyr) n.855T>A n.1609T>A c.2861T>A (p.Phe954Tyr) c.2564T>A (p.Phe855Tyr) c.782T>A (p.Phe261Tyr) c.2372T>A (p.Phe791Tyr) c.2096T>A (p.Phe699Tyr) c.2360T>A (p.Phe787Tyr) c.2558T>A (p.Phe853Tyr) c.2963T>A (p.Phe988Tyr) | |
15 | g.22903833A>C | CA391334633 | CYFIP1 | c.2455T>G (p.Phe819Val) c.2461T>G (p.Phe821Val) c.1168T>G (p.Phe390Val) n.854T>G n.1608T>G c.2860T>G (p.Phe954Val) c.2563T>G (p.Phe855Val) c.781T>G (p.Phe261Val) c.2371T>G (p.Phe791Val) c.2095T>G (p.Phe699Val) c.2359T>G (p.Phe787Val) c.2557T>G (p.Phe853Val) c.2962T>G (p.Phe988Val) | dbSNP |
15 | g.22903833A>G | CA391334636 | CYFIP1 | c.2455T>C (p.Phe819Leu) c.2461T>C (p.Phe821Leu) c.1168T>C (p.Phe390Leu) n.854T>C n.1608T>C c.2860T>C (p.Phe954Leu) c.2563T>C (p.Phe855Leu) c.781T>C (p.Phe261Leu) c.2371T>C (p.Phe791Leu) c.2095T>C (p.Phe699Leu) c.2359T>C (p.Phe787Leu) c.2557T>C (p.Phe853Leu) c.2962T>C (p.Phe988Leu) | |
15 | g.22903833A>T | CA391334635 | CYFIP1 | c.2455T>A (p.Phe819Ile) c.2461T>A (p.Phe821Ile) c.1168T>A (p.Phe390Ile) n.854T>A n.1608T>A c.2860T>A (p.Phe954Ile) c.2563T>A (p.Phe855Ile) c.781T>A (p.Phe261Ile) c.2371T>A (p.Phe791Ile) c.2095T>A (p.Phe699Ile) c.2359T>A (p.Phe787Ile) c.2557T>A (p.Phe853Ile) c.2962T>A (p.Phe988Ile) | dbSNP |
15 | g.22903834G>A | CA488526483 | CYFIP1 | c.2454C>T (p.Gly818=) c.2460C>T (p.Gly820=) c.1167C>T (p.Gly389=) n.853C>T n.1607C>T c.2859C>T (p.Gly953=) c.2562C>T (p.Gly854=) c.780C>T (p.Gly260=) c.2370C>T (p.Gly790=) c.2094C>T (p.Gly698=) c.2358C>T (p.Gly786=) c.2556C>T (p.Gly852=) c.2961C>T (p.Gly987=) | |
15 | g.22903834G>C | CA488526481 | CYFIP1 | c.2454C>G (p.Gly818=) c.2460C>G (p.Gly820=) c.1167C>G (p.Gly389=) n.853C>G n.1607C>G c.2859C>G (p.Gly953=) c.2562C>G (p.Gly854=) c.780C>G (p.Gly260=) c.2370C>G (p.Gly790=) c.2094C>G (p.Gly698=) c.2358C>G (p.Gly786=) c.2556C>G (p.Gly852=) c.2961C>G (p.Gly987=) | |
15 | g.22903834G>T | CA488526482 | CYFIP1 | c.2454C>A (p.Gly818=) c.2460C>A (p.Gly820=) c.1167C>A (p.Gly389=) n.853C>A n.1607C>A c.2859C>A (p.Gly953=) c.2562C>A (p.Gly854=) c.780C>A (p.Gly260=) c.2370C>A (p.Gly790=) c.2094C>A (p.Gly698=) c.2358C>A (p.Gly786=) c.2556C>A (p.Gly852=) c.2961C>A (p.Gly987=) | |
15 | g.22903835C>A | CA391334638 | CYFIP1 | c.2453G>T (p.Gly818Val) c.2459G>T (p.Gly820Val) c.1166G>T (p.Gly389Val) n.852G>T n.1606G>T c.2858G>T (p.Gly953Val) c.2561G>T (p.Gly854Val) c.779G>T (p.Gly260Val) c.2369G>T (p.Gly790Val) c.2093G>T (p.Gly698Val) c.2357G>T (p.Gly786Val) c.2555G>T (p.Gly852Val) c.2960G>T (p.Gly987Val) | |
15 | g.22903835C= | CA2163978072 | CYFIP1 | c.2453G= (p.Gly818=) c.2459G= (p.Gly820=) c.1166G= (p.Gly389=) n.852G= n.1606G= c.2858G= (p.Gly953=) c.2561G= (p.Gly854=) c.779G= (p.Gly260=) c.2369G= (p.Gly790=) c.2093G= (p.Gly698=) c.2357G= (p.Gly786=) c.2555G= (p.Gly852=) c.2960G= (p.Gly987=) | |
15 | g.22903835C>G | CA391334640 | CYFIP1 | c.2453G>C (p.Gly818Ala) c.2459G>C (p.Gly820Ala) c.1166G>C (p.Gly389Ala) n.852G>C n.1606G>C c.2858G>C (p.Gly953Ala) c.2561G>C (p.Gly854Ala) c.779G>C (p.Gly260Ala) c.2369G>C (p.Gly790Ala) c.2093G>C (p.Gly698Ala) c.2357G>C (p.Gly786Ala) c.2555G>C (p.Gly852Ala) c.2960G>C (p.Gly987Ala) | |
15 | g.22903835C>T | CA7425105 | CYFIP1 | c.2453G>A (p.Gly818Asp) c.2459G>A (p.Gly820Asp) c.1166G>A (p.Gly389Asp) n.852G>A n.1606G>A c.2858G>A (p.Gly953Asp) c.2561G>A (p.Gly854Asp) c.779G>A (p.Gly260Asp) c.2369G>A (p.Gly790Asp) c.2093G>A (p.Gly698Asp) c.2357G>A (p.Gly786Asp) c.2555G>A (p.Gly852Asp) c.2960G>A (p.Gly987Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903836C>A | CA391334642 | CYFIP1 | c.2452G>T (p.Gly818Cys) c.2458G>T (p.Gly820Cys) c.1165G>T (p.Gly389Cys) n.851G>T n.1605G>T c.2857G>T (p.Gly953Cys) c.2560G>T (p.Gly854Cys) c.778G>T (p.Gly260Cys) c.2368G>T (p.Gly790Cys) c.2092G>T (p.Gly698Cys) c.2356G>T (p.Gly786Cys) c.2554G>T (p.Gly852Cys) c.2959G>T (p.Gly987Cys) | |
15 | g.22903836C= | CA2163978076 | CYFIP1 | c.2452G= (p.Gly818=) c.2458G= (p.Gly820=) c.1165G= (p.Gly389=) n.851G= n.1605G= c.2857G= (p.Gly953=) c.2560G= (p.Gly854=) c.778G= (p.Gly260=) c.2368G= (p.Gly790=) c.2092G= (p.Gly698=) c.2356G= (p.Gly786=) c.2554G= (p.Gly852=) c.2959G= (p.Gly987=) | |
15 | g.22903836C>G | CA391334644 | CYFIP1 | c.2452G>C (p.Gly818Arg) c.2458G>C (p.Gly820Arg) c.1165G>C (p.Gly389Arg) n.851G>C n.1605G>C c.2857G>C (p.Gly953Arg) c.2560G>C (p.Gly854Arg) c.778G>C (p.Gly260Arg) c.2368G>C (p.Gly790Arg) c.2092G>C (p.Gly698Arg) c.2356G>C (p.Gly786Arg) c.2554G>C (p.Gly852Arg) c.2959G>C (p.Gly987Arg) | |
15 | g.22903836C>T | CA7425104 | CYFIP1 | c.2452G>A (p.Gly818Ser) c.2458G>A (p.Gly820Ser) c.1165G>A (p.Gly389Ser) n.851G>A n.1605G>A c.2857G>A (p.Gly953Ser) c.2560G>A (p.Gly854Ser) c.778G>A (p.Gly260Ser) c.2368G>A (p.Gly790Ser) c.2092G>A (p.Gly698Ser) c.2356G>A (p.Gly786Ser) c.2554G>A (p.Gly852Ser) c.2959G>A (p.Gly987Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903837G>A | CA488526484 | CYFIP1 | c.2451C>T (p.Asp817=) c.2457C>T (p.Asp819=) c.1164C>T (p.Asp388=) n.850C>T n.1604C>T c.2856C>T (p.Asp952=) c.2559C>T (p.Asp853=) c.777C>T (p.Asp259=) c.2367C>T (p.Asp789=) c.2091C>T (p.Asp697=) c.2355C>T (p.Asp785=) c.2553C>T (p.Asp851=) c.2958C>T (p.Asp986=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903837G>C | CA391334647 | CYFIP1 | c.2451C>G (p.Asp817Glu) c.2457C>G (p.Asp819Glu) c.1164C>G (p.Asp388Glu) n.850C>G n.1604C>G c.2856C>G (p.Asp952Glu) c.2559C>G (p.Asp853Glu) c.777C>G (p.Asp259Glu) c.2367C>G (p.Asp789Glu) c.2091C>G (p.Asp697Glu) c.2355C>G (p.Asp785Glu) c.2553C>G (p.Asp851Glu) c.2958C>G (p.Asp986Glu) | |
15 | g.22903837G= | CA2163978078 | CYFIP1 | c.2451C= (p.Asp817=) c.2457C= (p.Asp819=) c.1164C= (p.Asp388=) n.850C= n.1604C= c.2856C= (p.Asp952=) c.2559C= (p.Asp853=) c.777C= (p.Asp259=) c.2367C= (p.Asp789=) c.2091C= (p.Asp697=) c.2355C= (p.Asp785=) c.2553C= (p.Asp851=) c.2958C= (p.Asp986=) | |
15 | g.22903837G>T | CA391334648 | CYFIP1 | c.2451C>A (p.Asp817Glu) c.2457C>A (p.Asp819Glu) c.1164C>A (p.Asp388Glu) n.850C>A n.1604C>A c.2856C>A (p.Asp952Glu) c.2559C>A (p.Asp853Glu) c.777C>A (p.Asp259Glu) c.2367C>A (p.Asp789Glu) c.2091C>A (p.Asp697Glu) c.2355C>A (p.Asp785Glu) c.2553C>A (p.Asp851Glu) c.2958C>A (p.Asp986Glu) | |
15 | g.22903838T>A | CA391334651 | CYFIP1 | c.2450A>T (p.Asp817Val) c.2456A>T (p.Asp819Val) c.1163A>T (p.Asp388Val) n.849A>T n.1603A>T c.2855A>T (p.Asp952Val) c.2558A>T (p.Asp853Val) c.776A>T (p.Asp259Val) c.2366A>T (p.Asp789Val) c.2090A>T (p.Asp697Val) c.2354A>T (p.Asp785Val) c.2552A>T (p.Asp851Val) c.2957A>T (p.Asp986Val) | dbSNP |
15 | g.22903838T>C | CA391334653 | CYFIP1 | c.2450A>G (p.Asp817Gly) c.2456A>G (p.Asp819Gly) c.1163A>G (p.Asp388Gly) n.849A>G n.1603A>G c.2855A>G (p.Asp952Gly) c.2558A>G (p.Asp853Gly) c.776A>G (p.Asp259Gly) c.2366A>G (p.Asp789Gly) c.2090A>G (p.Asp697Gly) c.2354A>G (p.Asp785Gly) c.2552A>G (p.Asp851Gly) c.2957A>G (p.Asp986Gly) | |
15 | g.22903838T>G | CA391334655 | CYFIP1 | c.2450A>C (p.Asp817Ala) c.2456A>C (p.Asp819Ala) c.1163A>C (p.Asp388Ala) n.849A>C n.1603A>C c.2855A>C (p.Asp952Ala) c.2558A>C (p.Asp853Ala) c.776A>C (p.Asp259Ala) c.2366A>C (p.Asp789Ala) c.2090A>C (p.Asp697Ala) c.2354A>C (p.Asp785Ala) c.2552A>C (p.Asp851Ala) c.2957A>C (p.Asp986Ala) | dbSNP |
15 | g.22903839C>A | CA391334657 | CYFIP1 | c.2449G>T (p.Asp817Tyr) c.2455G>T (p.Asp819Tyr) c.1162G>T (p.Asp388Tyr) n.848G>T n.1602G>T c.2854G>T (p.Asp952Tyr) c.2557G>T (p.Asp853Tyr) c.775G>T (p.Asp259Tyr) c.2365G>T (p.Asp789Tyr) c.2089G>T (p.Asp697Tyr) c.2353G>T (p.Asp785Tyr) c.2551G>T (p.Asp851Tyr) c.2956G>T (p.Asp986Tyr) | |
15 | g.22903839C>G | CA391334658 | CYFIP1 | c.2449G>C (p.Asp817His) c.2455G>C (p.Asp819His) c.1162G>C (p.Asp388His) n.848G>C n.1602G>C c.2854G>C (p.Asp952His) c.2557G>C (p.Asp853His) c.775G>C (p.Asp259His) c.2365G>C (p.Asp789His) c.2089G>C (p.Asp697His) c.2353G>C (p.Asp785His) c.2551G>C (p.Asp851His) c.2956G>C (p.Asp986His) | gnomAD v4 |
15 | g.22903839C>T | CA391334660 | CYFIP1 | c.2449G>A (p.Asp817Asn) c.2455G>A (p.Asp819Asn) c.1162G>A (p.Asp388Asn) n.848G>A n.1602G>A c.2854G>A (p.Asp952Asn) c.2557G>A (p.Asp853Asn) c.775G>A (p.Asp259Asn) c.2365G>A (p.Asp789Asn) c.2089G>A (p.Asp697Asn) c.2353G>A (p.Asp785Asn) c.2551G>A (p.Asp851Asn) c.2956G>A (p.Asp986Asn) | dbSNP |
15 | g.22903840C>A | CA488526485 | CYFIP1 | c.2448G>T (p.Leu816=) c.2454G>T (p.Leu818=) c.1161G>T (p.Leu387=) n.847G>T n.1601G>T c.2853G>T (p.Leu951=) c.2556G>T (p.Leu852=) c.774G>T (p.Leu258=) c.2364G>T (p.Leu788=) c.2088G>T (p.Leu696=) c.2352G>T (p.Leu784=) c.2550G>T (p.Leu850=) c.2955G>T (p.Leu985=) | |
15 | g.22903840C= | CA2163978081 | CYFIP1 | c.2448G= (p.Leu816=) c.2454G= (p.Leu818=) c.1161G= (p.Leu387=) n.847G= n.1601G= c.2853G= (p.Leu951=) c.2556G= (p.Leu852=) c.774G= (p.Leu258=) c.2364G= (p.Leu788=) c.2088G= (p.Leu696=) c.2352G= (p.Leu784=) c.2550G= (p.Leu850=) c.2955G= (p.Leu985=) | |
15 | g.22903840C>G | CA488526486 | CYFIP1 | c.2448G>C (p.Leu816=) c.2454G>C (p.Leu818=) c.1161G>C (p.Leu387=) n.847G>C n.1601G>C c.2853G>C (p.Leu951=) c.2556G>C (p.Leu852=) c.774G>C (p.Leu258=) c.2364G>C (p.Leu788=) c.2088G>C (p.Leu696=) c.2352G>C (p.Leu784=) c.2550G>C (p.Leu850=) c.2955G>C (p.Leu985=) | |
15 | g.22903840C>T | CA488526487 | CYFIP1 | c.2448G>A (p.Leu816=) c.2454G>A (p.Leu818=) c.1161G>A (p.Leu387=) n.847G>A n.1601G>A c.2853G>A (p.Leu951=) c.2556G>A (p.Leu852=) c.774G>A (p.Leu258=) c.2364G>A (p.Leu788=) c.2088G>A (p.Leu696=) c.2352G>A (p.Leu784=) c.2550G>A (p.Leu850=) c.2955G>A (p.Leu985=) | dbSNP gnomAD v4 |
15 | g.22903844_22903861del | CA2627257802 | CYFIP1 | c.2431_2448del (p.Ser811_Leu816del) c.2437_2454del (p.Ser813_Leu818del) c.1144_1161del (p.Ser382_Leu387del) n.830_847del n.1584_1601del c.2836_2853del (p.Ser946_Leu951del) c.2539_2556del (p.Ser847_Leu852del) c.757_774del (p.Ser253_Leu258del) c.2347_2364del (p.Ser783_Leu788del) c.2071_2088del (p.Ser691_Leu696del) c.2335_2352del (p.Ser779_Leu784del) c.2533_2550del (p.Ser845_Leu850del) c.2938_2955del (p.Ser980_Leu985del) | gnomAD v4 |
15 | g.22903841A= | CA2163978083 | CYFIP1 | c.2447T= (p.Leu816=) c.2453T= (p.Leu818=) c.1160T= (p.Leu387=) n.846T= n.1600T= c.2852T= (p.Leu951=) c.2555T= (p.Leu852=) c.773T= (p.Leu258=) c.2363T= (p.Leu788=) c.2087T= (p.Leu696=) c.2351T= (p.Leu784=) c.2549T= (p.Leu850=) c.2954T= (p.Leu985=) | |
15 | g.22903841A>C | CA391334665 | CYFIP1 | c.2447T>G (p.Leu816Arg) c.2453T>G (p.Leu818Arg) c.1160T>G (p.Leu387Arg) n.846T>G n.1600T>G c.2852T>G (p.Leu951Arg) c.2555T>G (p.Leu852Arg) c.773T>G (p.Leu258Arg) c.2363T>G (p.Leu788Arg) c.2087T>G (p.Leu696Arg) c.2351T>G (p.Leu784Arg) c.2549T>G (p.Leu850Arg) c.2954T>G (p.Leu985Arg) | |
15 | g.22903841A>G | CA7425103 | CYFIP1 | c.2447T>C (p.Leu816Pro) c.2453T>C (p.Leu818Pro) c.1160T>C (p.Leu387Pro) n.846T>C n.1600T>C c.2852T>C (p.Leu951Pro) c.2555T>C (p.Leu852Pro) c.773T>C (p.Leu258Pro) c.2363T>C (p.Leu788Pro) c.2087T>C (p.Leu696Pro) c.2351T>C (p.Leu784Pro) c.2549T>C (p.Leu850Pro) c.2954T>C (p.Leu985Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.22903841A>T | CA391334663 | CYFIP1 | c.2447T>A (p.Leu816Gln) c.2453T>A (p.Leu818Gln) c.1160T>A (p.Leu387Gln) n.846T>A n.1600T>A c.2852T>A (p.Leu951Gln) c.2555T>A (p.Leu852Gln) c.773T>A (p.Leu258Gln) c.2363T>A (p.Leu788Gln) c.2087T>A (p.Leu696Gln) c.2351T>A (p.Leu784Gln) c.2549T>A (p.Leu850Gln) c.2954T>A (p.Leu985Gln) | dbSNP |
15 | g.22903842G>A | CA488526488 | CYFIP1 | c.2446C>T (p.Leu816=) c.2452C>T (p.Leu818=) c.1159C>T (p.Leu387=) n.845C>T n.1599C>T c.2851C>T (p.Leu951=) c.2554C>T (p.Leu852=) c.772C>T (p.Leu258=) c.2362C>T (p.Leu788=) c.2086C>T (p.Leu696=) c.2350C>T (p.Leu784=) c.2548C>T (p.Leu850=) c.2953C>T (p.Leu985=) | |
15 | g.22903842G>C | CA391334668 | CYFIP1 | c.2446C>G (p.Leu816Val) c.2452C>G (p.Leu818Val) c.1159C>G (p.Leu387Val) n.845C>G n.1599C>G c.2851C>G (p.Leu951Val) c.2554C>G (p.Leu852Val) c.772C>G (p.Leu258Val) c.2362C>G (p.Leu788Val) c.2086C>G (p.Leu696Val) c.2350C>G (p.Leu784Val) c.2548C>G (p.Leu850Val) c.2953C>G (p.Leu985Val) | |
15 | g.22903842G= | CA2163978085 | CYFIP1 | c.2446C= (p.Leu816=) c.2452C= (p.Leu818=) c.1159C= (p.Leu387=) n.845C= n.1599C= c.2851C= (p.Leu951=) c.2554C= (p.Leu852=) c.772C= (p.Leu258=) c.2362C= (p.Leu788=) c.2086C= (p.Leu696=) c.2350C= (p.Leu784=) c.2548C= (p.Leu850=) c.2953C= (p.Leu985=) | |
15 | g.22903842G>T | CA391334669 | CYFIP1 | c.2446C>A (p.Leu816Met) c.2452C>A (p.Leu818Met) c.1159C>A (p.Leu387Met) n.845C>A n.1599C>A c.2851C>A (p.Leu951Met) c.2554C>A (p.Leu852Met) c.772C>A (p.Leu258Met) c.2362C>A (p.Leu788Met) c.2086C>A (p.Leu696Met) c.2350C>A (p.Leu784Met) c.2548C>A (p.Leu850Met) c.2953C>A (p.Leu985Met) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903843C>A | CA488526489 | CYFIP1 | c.2445G>T (p.Thr815=) c.2451G>T (p.Thr817=) c.1158G>T (p.Thr386=) n.844G>T n.1598G>T c.2850G>T (p.Thr950=) c.2553G>T (p.Thr851=) c.771G>T (p.Thr257=) c.2361G>T (p.Thr787=) c.2085G>T (p.Thr695=) c.2349G>T (p.Thr783=) c.2547G>T (p.Thr849=) c.2952G>T (p.Thr984=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903843C= | CA2163978088 | CYFIP1 | c.2445G= (p.Thr815=) c.2451G= (p.Thr817=) c.1158G= (p.Thr386=) n.844G= n.1598G= c.2850G= (p.Thr950=) c.2553G= (p.Thr851=) c.771G= (p.Thr257=) c.2361G= (p.Thr787=) c.2085G= (p.Thr695=) c.2349G= (p.Thr783=) c.2547G= (p.Thr849=) c.2952G= (p.Thr984=) | |
15 | g.22903843C>G | CA488526490 | CYFIP1 | c.2445G>C (p.Thr815=) c.2451G>C (p.Thr817=) c.1158G>C (p.Thr386=) n.844G>C n.1598G>C c.2850G>C (p.Thr950=) c.2553G>C (p.Thr851=) c.771G>C (p.Thr257=) c.2361G>C (p.Thr787=) c.2085G>C (p.Thr695=) c.2349G>C (p.Thr783=) c.2547G>C (p.Thr849=) c.2952G>C (p.Thr984=) | |
15 | g.22903843C>T | CA7425102 | CYFIP1 | c.2445G>A (p.Thr815=) c.2451G>A (p.Thr817=) c.1158G>A (p.Thr386=) n.844G>A n.1598G>A c.2850G>A (p.Thr950=) c.2553G>A (p.Thr851=) c.771G>A (p.Thr257=) c.2361G>A (p.Thr787=) c.2085G>A (p.Thr695=) c.2349G>A (p.Thr783=) c.2547G>A (p.Thr849=) c.2952G>A (p.Thr984=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903844G>A | CA7425101 | CYFIP1 | c.2444C>T (p.Thr815Met) c.2450C>T (p.Thr817Met) c.1157C>T (p.Thr386Met) n.843C>T n.1597C>T c.2849C>T (p.Thr950Met) c.2552C>T (p.Thr851Met) c.770C>T (p.Thr257Met) c.2360C>T (p.Thr787Met) c.2084C>T (p.Thr695Met) c.2348C>T (p.Thr783Met) c.2546C>T (p.Thr849Met) c.2951C>T (p.Thr984Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903844G>C | CA391334673 | CYFIP1 | c.2444C>G (p.Thr815Arg) c.2450C>G (p.Thr817Arg) c.1157C>G (p.Thr386Arg) n.843C>G n.1597C>G c.2849C>G (p.Thr950Arg) c.2552C>G (p.Thr851Arg) c.770C>G (p.Thr257Arg) c.2360C>G (p.Thr787Arg) c.2084C>G (p.Thr695Arg) c.2348C>G (p.Thr783Arg) c.2546C>G (p.Thr849Arg) c.2951C>G (p.Thr984Arg) | |
15 | g.22903844G= | CA2163978094 | CYFIP1 | c.2444C= (p.Thr815=) c.2450C= (p.Thr817=) c.1157C= (p.Thr386=) n.843C= n.1597C= c.2849C= (p.Thr950=) c.2552C= (p.Thr851=) c.770C= (p.Thr257=) c.2360C= (p.Thr787=) c.2084C= (p.Thr695=) c.2348C= (p.Thr783=) c.2546C= (p.Thr849=) c.2951C= (p.Thr984=) | |
15 | g.22903844G>T | CA391334675 | CYFIP1 | c.2444C>A (p.Thr815Lys) c.2450C>A (p.Thr817Lys) c.1157C>A (p.Thr386Lys) n.843C>A n.1597C>A c.2849C>A (p.Thr950Lys) c.2552C>A (p.Thr851Lys) c.770C>A (p.Thr257Lys) c.2360C>A (p.Thr787Lys) c.2084C>A (p.Thr695Lys) c.2348C>A (p.Thr783Lys) c.2546C>A (p.Thr849Lys) c.2951C>A (p.Thr984Lys) | |
15 | g.22903845T>A | CA391334677 | CYFIP1 | c.2443A>T (p.Thr815Ser) c.2449A>T (p.Thr817Ser) c.1156A>T (p.Thr386Ser) n.842A>T n.1596A>T c.2848A>T (p.Thr950Ser) c.2551A>T (p.Thr851Ser) c.769A>T (p.Thr257Ser) c.2359A>T (p.Thr787Ser) c.2083A>T (p.Thr695Ser) c.2347A>T (p.Thr783Ser) c.2545A>T (p.Thr849Ser) c.2950A>T (p.Thr984Ser) | dbSNP |
15 | g.22903845T>C | CA391334679 | CYFIP1 | c.2443A>G (p.Thr815Ala) c.2449A>G (p.Thr817Ala) c.1156A>G (p.Thr386Ala) n.842A>G n.1596A>G c.2848A>G (p.Thr950Ala) c.2551A>G (p.Thr851Ala) c.769A>G (p.Thr257Ala) c.2359A>G (p.Thr787Ala) c.2083A>G (p.Thr695Ala) c.2347A>G (p.Thr783Ala) c.2545A>G (p.Thr849Ala) c.2950A>G (p.Thr984Ala) | |
15 | g.22903845T>G | CA391334680 | CYFIP1 | c.2443A>C (p.Thr815Pro) c.2449A>C (p.Thr817Pro) c.1156A>C (p.Thr386Pro) n.842A>C n.1596A>C c.2848A>C (p.Thr950Pro) c.2551A>C (p.Thr851Pro) c.769A>C (p.Thr257Pro) c.2359A>C (p.Thr787Pro) c.2083A>C (p.Thr695Pro) c.2347A>C (p.Thr783Pro) c.2545A>C (p.Thr849Pro) c.2950A>C (p.Thr984Pro) | dbSNP |
15 | g.22903846C>A | CA488526491 | CYFIP1 | c.2442G>T (p.Leu814=) c.2448G>T (p.Leu816=) c.1155G>T (p.Leu385=) n.841G>T n.1595G>T c.2847G>T (p.Leu949=) c.2550G>T (p.Leu850=) c.768G>T (p.Leu256=) c.2358G>T (p.Leu786=) c.2082G>T (p.Leu694=) c.2346G>T (p.Leu782=) c.2544G>T (p.Leu848=) c.2949G>T (p.Leu983=) | |
15 | g.22903846C= | CA2163978097 | CYFIP1 | c.2442G= (p.Leu814=) c.2448G= (p.Leu816=) c.1155G= (p.Leu385=) n.841G= n.1595G= c.2847G= (p.Leu949=) c.2550G= (p.Leu850=) c.768G= (p.Leu256=) c.2358G= (p.Leu786=) c.2082G= (p.Leu694=) c.2346G= (p.Leu782=) c.2544G= (p.Leu848=) c.2949G= (p.Leu983=) | |
15 | g.22903846C>G | CA267616566 | CYFIP1 | c.2442G>C (p.Leu814=) c.2448G>C (p.Leu816=) c.1155G>C (p.Leu385=) n.841G>C n.1595G>C c.2847G>C (p.Leu949=) c.2550G>C (p.Leu850=) c.768G>C (p.Leu256=) c.2358G>C (p.Leu786=) c.2082G>C (p.Leu694=) c.2346G>C (p.Leu782=) c.2544G>C (p.Leu848=) c.2949G>C (p.Leu983=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903846C>T | CA267616573 | CYFIP1 | c.2442G>A (p.Leu814=) c.2448G>A (p.Leu816=) c.1155G>A (p.Leu385=) n.841G>A n.1595G>A c.2847G>A (p.Leu949=) c.2550G>A (p.Leu850=) c.768G>A (p.Leu256=) c.2358G>A (p.Leu786=) c.2082G>A (p.Leu694=) c.2346G>A (p.Leu782=) c.2544G>A (p.Leu848=) c.2949G>A (p.Leu983=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903847A>C | CA391334685 | CYFIP1 | c.2441T>G (p.Leu814Arg) c.2447T>G (p.Leu816Arg) c.1154T>G (p.Leu385Arg) n.840T>G n.1594T>G c.2846T>G (p.Leu949Arg) c.2549T>G (p.Leu850Arg) c.767T>G (p.Leu256Arg) c.2357T>G (p.Leu786Arg) c.2081T>G (p.Leu694Arg) c.2345T>G (p.Leu782Arg) c.2543T>G (p.Leu848Arg) c.2948T>G (p.Leu983Arg) | |
15 | g.22903847A>G | CA391334687 | CYFIP1 | c.2441T>C (p.Leu814Pro) c.2447T>C (p.Leu816Pro) c.1154T>C (p.Leu385Pro) n.840T>C n.1594T>C c.2846T>C (p.Leu949Pro) c.2549T>C (p.Leu850Pro) c.767T>C (p.Leu256Pro) c.2357T>C (p.Leu786Pro) c.2081T>C (p.Leu694Pro) c.2345T>C (p.Leu782Pro) c.2543T>C (p.Leu848Pro) c.2948T>C (p.Leu983Pro) | |
15 | g.22903847A>T | CA391334684 | CYFIP1 | c.2441T>A (p.Leu814Gln) c.2447T>A (p.Leu816Gln) c.1154T>A (p.Leu385Gln) n.840T>A n.1594T>A c.2846T>A (p.Leu949Gln) c.2549T>A (p.Leu850Gln) c.767T>A (p.Leu256Gln) c.2357T>A (p.Leu786Gln) c.2081T>A (p.Leu694Gln) c.2345T>A (p.Leu782Gln) c.2543T>A (p.Leu848Gln) c.2948T>A (p.Leu983Gln) | |
15 | g.22903848G>A | CA267616581 | CYFIP1 | c.2440C>T (p.Leu814=) c.2446C>T (p.Leu816=) c.1153C>T (p.Leu385=) n.839C>T n.1593C>T c.2845C>T (p.Leu949=) c.2548C>T (p.Leu850=) c.766C>T (p.Leu256=) c.2356C>T (p.Leu786=) c.2080C>T (p.Leu694=) c.2344C>T (p.Leu782=) c.2542C>T (p.Leu848=) c.2947C>T (p.Leu983=) | dbSNP |
15 | g.22903848G>C | CA391334690 | CYFIP1 | c.2440C>G (p.Leu814Val) c.2446C>G (p.Leu816Val) c.1153C>G (p.Leu385Val) n.839C>G n.1593C>G c.2845C>G (p.Leu949Val) c.2548C>G (p.Leu850Val) c.766C>G (p.Leu256Val) c.2356C>G (p.Leu786Val) c.2080C>G (p.Leu694Val) c.2344C>G (p.Leu782Val) c.2542C>G (p.Leu848Val) c.2947C>G (p.Leu983Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903848G= | CA2163978099 | CYFIP1 | c.2440C= (p.Leu814=) c.2446C= (p.Leu816=) c.1153C= (p.Leu385=) n.839C= n.1593C= c.2845C= (p.Leu949=) c.2548C= (p.Leu850=) c.766C= (p.Leu256=) c.2356C= (p.Leu786=) c.2080C= (p.Leu694=) c.2344C= (p.Leu782=) c.2542C= (p.Leu848=) c.2947C= (p.Leu983=) | |
15 | g.22903848G>T | CA391334691 | CYFIP1 | c.2440C>A (p.Leu814Met) c.2446C>A (p.Leu816Met) c.1153C>A (p.Leu385Met) n.839C>A n.1593C>A c.2845C>A (p.Leu949Met) c.2548C>A (p.Leu850Met) c.766C>A (p.Leu256Met) c.2356C>A (p.Leu786Met) c.2080C>A (p.Leu694Met) c.2344C>A (p.Leu782Met) c.2542C>A (p.Leu848Met) c.2947C>A (p.Leu983Met) | |
15 | g.22903849G>A | CA267616583 | CYFIP1 | c.2439C>T (p.Tyr813=) c.2445C>T (p.Tyr815=) c.1152C>T (p.Tyr384=) n.838C>T n.1592C>T c.2844C>T (p.Tyr948=) c.2547C>T (p.Tyr849=) c.765C>T (p.Tyr255=) c.2355C>T (p.Tyr785=) c.2079C>T (p.Tyr693=) c.2343C>T (p.Tyr781=) c.2541C>T (p.Tyr847=) c.2946C>T (p.Tyr982=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903849G>C | CA391334692 | CYFIP1 | c.2439C>G (p.Tyr813Ter) c.2445C>G (p.Tyr815Ter) c.1152C>G (p.Tyr384Ter) n.838C>G n.1592C>G c.2844C>G (p.Tyr948Ter) c.2547C>G (p.Tyr849Ter) c.765C>G (p.Tyr255Ter) c.2355C>G (p.Tyr785Ter) c.2079C>G (p.Tyr693Ter) c.2343C>G (p.Tyr781Ter) c.2541C>G (p.Tyr847Ter) c.2946C>G (p.Tyr982Ter) | |
15 | g.22903849G= | CA2163978102 | CYFIP1 | c.2439C= (p.Tyr813=) c.2445C= (p.Tyr815=) c.1152C= (p.Tyr384=) n.838C= n.1592C= c.2844C= (p.Tyr948=) c.2547C= (p.Tyr849=) c.765C= (p.Tyr255=) c.2355C= (p.Tyr785=) c.2079C= (p.Tyr693=) c.2343C= (p.Tyr781=) c.2541C= (p.Tyr847=) c.2946C= (p.Tyr982=) | |
15 | g.22903849G>T | CA391334694 | CYFIP1 | c.2439C>A (p.Tyr813Ter) c.2445C>A (p.Tyr815Ter) c.1152C>A (p.Tyr384Ter) n.838C>A n.1592C>A c.2844C>A (p.Tyr948Ter) c.2547C>A (p.Tyr849Ter) c.765C>A (p.Tyr255Ter) c.2355C>A (p.Tyr785Ter) c.2079C>A (p.Tyr693Ter) c.2343C>A (p.Tyr781Ter) c.2541C>A (p.Tyr847Ter) c.2946C>A (p.Tyr982Ter) | |
15 | g.22903850T>A | CA391334697 | CYFIP1 | c.2438A>T (p.Tyr813Phe) c.2444A>T (p.Tyr815Phe) c.1151A>T (p.Tyr384Phe) n.837A>T n.1591A>T c.2843A>T (p.Tyr948Phe) c.2546A>T (p.Tyr849Phe) c.764A>T (p.Tyr255Phe) c.2354A>T (p.Tyr785Phe) c.2078A>T (p.Tyr693Phe) c.2342A>T (p.Tyr781Phe) c.2540A>T (p.Tyr847Phe) c.2945A>T (p.Tyr982Phe) | |
15 | g.22903850T>C | CA391334698 | CYFIP1 | c.2438A>G (p.Tyr813Cys) c.2444A>G (p.Tyr815Cys) c.1151A>G (p.Tyr384Cys) n.837A>G n.1591A>G c.2843A>G (p.Tyr948Cys) c.2546A>G (p.Tyr849Cys) c.764A>G (p.Tyr255Cys) c.2354A>G (p.Tyr785Cys) c.2078A>G (p.Tyr693Cys) c.2342A>G (p.Tyr781Cys) c.2540A>G (p.Tyr847Cys) c.2945A>G (p.Tyr982Cys) | |
15 | g.22903850T>G | CA391334700 | CYFIP1 | c.2438A>C (p.Tyr813Ser) c.2444A>C (p.Tyr815Ser) c.1151A>C (p.Tyr384Ser) n.837A>C n.1591A>C c.2843A>C (p.Tyr948Ser) c.2546A>C (p.Tyr849Ser) c.764A>C (p.Tyr255Ser) c.2354A>C (p.Tyr785Ser) c.2078A>C (p.Tyr693Ser) c.2342A>C (p.Tyr781Ser) c.2540A>C (p.Tyr847Ser) c.2945A>C (p.Tyr982Ser) | |
15 | g.22903851A= | CA2163978104 | CYFIP1 | c.2437T= (p.Tyr813=) c.2443T= (p.Tyr815=) c.1150T= (p.Tyr384=) n.836T= n.1590T= c.2842T= (p.Tyr948=) c.2545T= (p.Tyr849=) c.763T= (p.Tyr255=) c.2353T= (p.Tyr785=) c.2077T= (p.Tyr693=) c.2341T= (p.Tyr781=) c.2539T= (p.Tyr847=) c.2944T= (p.Tyr982=) | |
15 | g.22903851A>C | CA7425100 | CYFIP1 | c.2437T>G (p.Tyr813Asp) c.2443T>G (p.Tyr815Asp) c.1150T>G (p.Tyr384Asp) n.836T>G n.1590T>G c.2842T>G (p.Tyr948Asp) c.2545T>G (p.Tyr849Asp) c.763T>G (p.Tyr255Asp) c.2353T>G (p.Tyr785Asp) c.2077T>G (p.Tyr693Asp) c.2341T>G (p.Tyr781Asp) c.2539T>G (p.Tyr847Asp) c.2944T>G (p.Tyr982Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903851A>G | CA391334703 | CYFIP1 | c.2437T>C (p.Tyr813His) c.2443T>C (p.Tyr815His) c.1150T>C (p.Tyr384His) n.836T>C n.1590T>C c.2842T>C (p.Tyr948His) c.2545T>C (p.Tyr849His) c.763T>C (p.Tyr255His) c.2353T>C (p.Tyr785His) c.2077T>C (p.Tyr693His) c.2341T>C (p.Tyr781His) c.2539T>C (p.Tyr847His) c.2944T>C (p.Tyr982His) | gnomAD v4 |
15 | g.22903851A>T | CA391334705 | CYFIP1 | c.2437T>A (p.Tyr813Asn) c.2443T>A (p.Tyr815Asn) c.1150T>A (p.Tyr384Asn) n.836T>A n.1590T>A c.2842T>A (p.Tyr948Asn) c.2545T>A (p.Tyr849Asn) c.763T>A (p.Tyr255Asn) c.2353T>A (p.Tyr785Asn) c.2077T>A (p.Tyr693Asn) c.2341T>A (p.Tyr781Asn) c.2539T>A (p.Tyr847Asn) c.2944T>A (p.Tyr982Asn) | |
15 | g.22903852C>A | CA488526493 | CYFIP1 | c.2436G>T (p.Arg812=) c.2442G>T (p.Arg814=) c.1149G>T (p.Arg383=) n.835G>T n.1589G>T c.2841G>T (p.Arg947=) c.2544G>T (p.Arg848=) c.762G>T (p.Arg254=) c.2352G>T (p.Arg784=) c.2076G>T (p.Arg692=) c.2340G>T (p.Arg780=) c.2538G>T (p.Arg846=) c.2943G>T (p.Arg981=) | |
15 | g.22903852C= | CA2163978108 | CYFIP1 | c.2436G= (p.Arg812=) c.2442G= (p.Arg814=) c.1149G= (p.Arg383=) n.835G= n.1589G= c.2841G= (p.Arg947=) c.2544G= (p.Arg848=) c.762G= (p.Arg254=) c.2352G= (p.Arg784=) c.2076G= (p.Arg692=) c.2340G= (p.Arg780=) c.2538G= (p.Arg846=) c.2943G= (p.Arg981=) | |
15 | g.22903852C>G | CA488526494 | CYFIP1 | c.2436G>C (p.Arg812=) c.2442G>C (p.Arg814=) c.1149G>C (p.Arg383=) n.835G>C n.1589G>C c.2841G>C (p.Arg947=) c.2544G>C (p.Arg848=) c.762G>C (p.Arg254=) c.2352G>C (p.Arg784=) c.2076G>C (p.Arg692=) c.2340G>C (p.Arg780=) c.2538G>C (p.Arg846=) c.2943G>C (p.Arg981=) | |
15 | g.22903852C>T | CA488526492 | CYFIP1 | c.2436G>A (p.Arg812=) c.2442G>A (p.Arg814=) c.1149G>A (p.Arg383=) n.835G>A n.1589G>A c.2841G>A (p.Arg947=) c.2544G>A (p.Arg848=) c.762G>A (p.Arg254=) c.2352G>A (p.Arg784=) c.2076G>A (p.Arg692=) c.2340G>A (p.Arg780=) c.2538G>A (p.Arg846=) c.2943G>A (p.Arg981=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903853C>A | CA391334706 | CYFIP1 | c.2435G>T (p.Arg812Leu) c.2441G>T (p.Arg814Leu) c.1148G>T (p.Arg383Leu) n.834G>T n.1588G>T c.2840G>T (p.Arg947Leu) c.2543G>T (p.Arg848Leu) c.761G>T (p.Arg254Leu) c.2351G>T (p.Arg784Leu) c.2075G>T (p.Arg692Leu) c.2339G>T (p.Arg780Leu) c.2537G>T (p.Arg846Leu) c.2942G>T (p.Arg981Leu) | |
15 | g.22903853C= | CA2163978111 | CYFIP1 | c.2435G= (p.Arg812=) c.2441G= (p.Arg814=) c.1148G= (p.Arg383=) n.834G= n.1588G= c.2840G= (p.Arg947=) c.2543G= (p.Arg848=) c.761G= (p.Arg254=) c.2351G= (p.Arg784=) c.2075G= (p.Arg692=) c.2339G= (p.Arg780=) c.2537G= (p.Arg846=) c.2942G= (p.Arg981=) | |
15 | g.22903853C>G | CA391334708 | CYFIP1 | c.2435G>C (p.Arg812Pro) c.2441G>C (p.Arg814Pro) c.1148G>C (p.Arg383Pro) n.834G>C n.1588G>C c.2840G>C (p.Arg947Pro) c.2543G>C (p.Arg848Pro) c.761G>C (p.Arg254Pro) c.2351G>C (p.Arg784Pro) c.2075G>C (p.Arg692Pro) c.2339G>C (p.Arg780Pro) c.2537G>C (p.Arg846Pro) c.2942G>C (p.Arg981Pro) | |
15 | g.22903853C>T | CA7425099 | CYFIP1 | c.2435G>A (p.Arg812Gln) c.2441G>A (p.Arg814Gln) c.1148G>A (p.Arg383Gln) n.834G>A n.1588G>A c.2840G>A (p.Arg947Gln) c.2543G>A (p.Arg848Gln) c.761G>A (p.Arg254Gln) c.2351G>A (p.Arg784Gln) c.2075G>A (p.Arg692Gln) c.2339G>A (p.Arg780Gln) c.2537G>A (p.Arg846Gln) c.2942G>A (p.Arg981Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903854G>A | CA7425098 | CYFIP1 | c.2434C>T (p.Arg812Trp) c.2440C>T (p.Arg814Trp) c.1147C>T (p.Arg383Trp) n.833C>T n.1587C>T c.2839C>T (p.Arg947Trp) c.2542C>T (p.Arg848Trp) c.760C>T (p.Arg254Trp) c.2350C>T (p.Arg784Trp) c.2074C>T (p.Arg692Trp) c.2338C>T (p.Arg780Trp) c.2536C>T (p.Arg846Trp) c.2941C>T (p.Arg981Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.22903854G>C | CA391334712 | CYFIP1 | c.2434C>G (p.Arg812Gly) c.2440C>G (p.Arg814Gly) c.1147C>G (p.Arg383Gly) n.833C>G n.1587C>G c.2839C>G (p.Arg947Gly) c.2542C>G (p.Arg848Gly) c.760C>G (p.Arg254Gly) c.2350C>G (p.Arg784Gly) c.2074C>G (p.Arg692Gly) c.2338C>G (p.Arg780Gly) c.2536C>G (p.Arg846Gly) c.2941C>G (p.Arg981Gly) | gnomAD v4 |
15 | g.22903854G= | CA2163978115 | CYFIP1 | c.2434C= (p.Arg812=) c.2440C= (p.Arg814=) c.1147C= (p.Arg383=) n.833C= n.1587C= c.2839C= (p.Arg947=) c.2542C= (p.Arg848=) c.760C= (p.Arg254=) c.2350C= (p.Arg784=) c.2074C= (p.Arg692=) c.2338C= (p.Arg780=) c.2536C= (p.Arg846=) c.2941C= (p.Arg981=) | |
15 | g.22903854G>T | CA488526495 | CYFIP1 | c.2434C>A (p.Arg812=) c.2440C>A (p.Arg814=) c.1147C>A (p.Arg383=) n.833C>A n.1587C>A c.2839C>A (p.Arg947=) c.2542C>A (p.Arg848=) c.760C>A (p.Arg254=) c.2350C>A (p.Arg784=) c.2074C>A (p.Arg692=) c.2338C>A (p.Arg780=) c.2536C>A (p.Arg846=) c.2941C>A (p.Arg981=) | |
15 | g.22903855G>A | CA488526496 | CYFIP1 | c.2433C>T (p.Ser811=) c.2439C>T (p.Ser813=) c.1146C>T (p.Ser382=) n.832C>T n.1586C>T c.2838C>T (p.Ser946=) c.2541C>T (p.Ser847=) c.759C>T (p.Ser253=) c.2349C>T (p.Ser783=) c.2073C>T (p.Ser691=) c.2337C>T (p.Ser779=) c.2535C>T (p.Ser845=) c.2940C>T (p.Ser980=) | dbSNP |
15 | g.22903855G>C | CA391334714 | CYFIP1 | c.2433C>G (p.Ser811Arg) c.2439C>G (p.Ser813Arg) c.1146C>G (p.Ser382Arg) n.832C>G n.1586C>G c.2838C>G (p.Ser946Arg) c.2541C>G (p.Ser847Arg) c.759C>G (p.Ser253Arg) c.2349C>G (p.Ser783Arg) c.2073C>G (p.Ser691Arg) c.2337C>G (p.Ser779Arg) c.2535C>G (p.Ser845Arg) c.2940C>G (p.Ser980Arg) | |
15 | g.22903855G= | CA2163978120 | CYFIP1 | c.2433C= (p.Ser811=) c.2439C= (p.Ser813=) c.1146C= (p.Ser382=) n.832C= n.1586C= c.2838C= (p.Ser946=) c.2541C= (p.Ser847=) c.759C= (p.Ser253=) c.2349C= (p.Ser783=) c.2073C= (p.Ser691=) c.2337C= (p.Ser779=) c.2535C= (p.Ser845=) c.2940C= (p.Ser980=) | |
15 | g.22903855G>T | CA7425097 | CYFIP1 | c.2433C>A (p.Ser811Arg) c.2439C>A (p.Ser813Arg) c.1146C>A (p.Ser382Arg) n.832C>A n.1586C>A c.2838C>A (p.Ser946Arg) c.2541C>A (p.Ser847Arg) c.759C>A (p.Ser253Arg) c.2349C>A (p.Ser783Arg) c.2073C>A (p.Ser691Arg) c.2337C>A (p.Ser779Arg) c.2535C>A (p.Ser845Arg) c.2940C>A (p.Ser980Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903856C>A | CA391334716 | CYFIP1 | c.2432G>T (p.Ser811Ile) c.2438G>T (p.Ser813Ile) c.1145G>T (p.Ser382Ile) n.831G>T n.1585G>T c.2837G>T (p.Ser946Ile) c.2540G>T (p.Ser847Ile) c.758G>T (p.Ser253Ile) c.2348G>T (p.Ser783Ile) c.2072G>T (p.Ser691Ile) c.2336G>T (p.Ser779Ile) c.2534G>T (p.Ser845Ile) c.2939G>T (p.Ser980Ile) | |
15 | g.22903856C= | CA2163978124 | CYFIP1 | c.2432G= (p.Ser811=) c.2438G= (p.Ser813=) c.1145G= (p.Ser382=) n.831G= n.1585G= c.2837G= (p.Ser946=) c.2540G= (p.Ser847=) c.758G= (p.Ser253=) c.2348G= (p.Ser783=) c.2072G= (p.Ser691=) c.2336G= (p.Ser779=) c.2534G= (p.Ser845=) c.2939G= (p.Ser980=) | |
15 | g.22903856C>G | CA391334718 | CYFIP1 | c.2432G>C (p.Ser811Thr) c.2438G>C (p.Ser813Thr) c.1145G>C (p.Ser382Thr) n.831G>C n.1585G>C c.2837G>C (p.Ser946Thr) c.2540G>C (p.Ser847Thr) c.758G>C (p.Ser253Thr) c.2348G>C (p.Ser783Thr) c.2072G>C (p.Ser691Thr) c.2336G>C (p.Ser779Thr) c.2534G>C (p.Ser845Thr) c.2939G>C (p.Ser980Thr) | |
15 | g.22903856C>T | CA391334720 | CYFIP1 | c.2432G>A (p.Ser811Asn) c.2438G>A (p.Ser813Asn) c.1145G>A (p.Ser382Asn) n.831G>A n.1585G>A c.2837G>A (p.Ser946Asn) c.2540G>A (p.Ser847Asn) c.758G>A (p.Ser253Asn) c.2348G>A (p.Ser783Asn) c.2072G>A (p.Ser691Asn) c.2336G>A (p.Ser779Asn) c.2534G>A (p.Ser845Asn) c.2939G>A (p.Ser980Asn) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903857T>A | CA391334722 | CYFIP1 | c.2431A>T (p.Ser811Cys) c.2437A>T (p.Ser813Cys) c.1144A>T (p.Ser382Cys) n.830A>T n.1584A>T c.2836A>T (p.Ser946Cys) c.2539A>T (p.Ser847Cys) c.757A>T (p.Ser253Cys) c.2347A>T (p.Ser783Cys) c.2071A>T (p.Ser691Cys) c.2335A>T (p.Ser779Cys) c.2533A>T (p.Ser845Cys) c.2938A>T (p.Ser980Cys) | |
15 | g.22903857T>C | CA391334723 | CYFIP1 | c.2431A>G (p.Ser811Gly) c.2437A>G (p.Ser813Gly) c.1144A>G (p.Ser382Gly) n.830A>G n.1584A>G c.2836A>G (p.Ser946Gly) c.2539A>G (p.Ser847Gly) c.757A>G (p.Ser253Gly) c.2347A>G (p.Ser783Gly) c.2071A>G (p.Ser691Gly) c.2335A>G (p.Ser779Gly) c.2533A>G (p.Ser845Gly) c.2938A>G (p.Ser980Gly) | |
15 | g.22903857T>G | CA391334725 | CYFIP1 | c.2431A>C (p.Ser811Arg) c.2437A>C (p.Ser813Arg) c.1144A>C (p.Ser382Arg) n.830A>C n.1584A>C c.2836A>C (p.Ser946Arg) c.2539A>C (p.Ser847Arg) c.757A>C (p.Ser253Arg) c.2347A>C (p.Ser783Arg) c.2071A>C (p.Ser691Arg) c.2335A>C (p.Ser779Arg) c.2533A>C (p.Ser845Arg) c.2938A>C (p.Ser980Arg) | |
15 | g.22903858C>A | CA488526497 | CYFIP1 | c.2430G>T (p.Leu810=) c.2436G>T (p.Leu812=) c.1143G>T (p.Leu381=) n.829G>T n.1583G>T c.2835G>T (p.Leu945=) c.2538G>T (p.Leu846=) c.756G>T (p.Leu252=) c.2346G>T (p.Leu782=) c.2070G>T (p.Leu690=) c.2334G>T (p.Leu778=) c.2532G>T (p.Leu844=) c.2937G>T (p.Leu979=) | |
15 | g.22903858C= | CA2163978126 | CYFIP1 | c.2430G= (p.Leu810=) c.2436G= (p.Leu812=) c.1143G= (p.Leu381=) n.829G= n.1583G= c.2835G= (p.Leu945=) c.2538G= (p.Leu846=) c.756G= (p.Leu252=) c.2346G= (p.Leu782=) c.2070G= (p.Leu690=) c.2334G= (p.Leu778=) c.2532G= (p.Leu844=) c.2937G= (p.Leu979=) | |
15 | g.22903858C>G | CA488526498 | CYFIP1 | c.2430G>C (p.Leu810=) c.2436G>C (p.Leu812=) c.1143G>C (p.Leu381=) n.829G>C n.1583G>C c.2835G>C (p.Leu945=) c.2538G>C (p.Leu846=) c.756G>C (p.Leu252=) c.2346G>C (p.Leu782=) c.2070G>C (p.Leu690=) c.2334G>C (p.Leu778=) c.2532G>C (p.Leu844=) c.2937G>C (p.Leu979=) | |
15 | g.22903858C>T | CA488526499 | CYFIP1 | c.2430G>A (p.Leu810=) c.2436G>A (p.Leu812=) c.1143G>A (p.Leu381=) n.829G>A n.1583G>A c.2835G>A (p.Leu945=) c.2538G>A (p.Leu846=) c.756G>A (p.Leu252=) c.2346G>A (p.Leu782=) c.2070G>A (p.Leu690=) c.2334G>A (p.Leu778=) c.2532G>A (p.Leu844=) c.2937G>A (p.Leu979=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903859A>C | CA391334728 | CYFIP1 | c.2429T>G (p.Leu810Arg) c.2435T>G (p.Leu812Arg) c.1142T>G (p.Leu381Arg) n.828T>G n.1582T>G c.2834T>G (p.Leu945Arg) c.2537T>G (p.Leu846Arg) c.755T>G (p.Leu252Arg) c.2345T>G (p.Leu782Arg) c.2069T>G (p.Leu690Arg) c.2333T>G (p.Leu778Arg) c.2531T>G (p.Leu844Arg) c.2936T>G (p.Leu979Arg) | |
15 | g.22903859A>G | CA391334729 | CYFIP1 | c.2429T>C (p.Leu810Pro) c.2435T>C (p.Leu812Pro) c.1142T>C (p.Leu381Pro) n.828T>C n.1582T>C c.2834T>C (p.Leu945Pro) c.2537T>C (p.Leu846Pro) c.755T>C (p.Leu252Pro) c.2345T>C (p.Leu782Pro) c.2069T>C (p.Leu690Pro) c.2333T>C (p.Leu778Pro) c.2531T>C (p.Leu844Pro) c.2936T>C (p.Leu979Pro) | |
15 | g.22903859A>T | CA391334731 | CYFIP1 | c.2429T>A (p.Leu810Gln) c.2435T>A (p.Leu812Gln) c.1142T>A (p.Leu381Gln) n.828T>A n.1582T>A c.2834T>A (p.Leu945Gln) c.2537T>A (p.Leu846Gln) c.755T>A (p.Leu252Gln) c.2345T>A (p.Leu782Gln) c.2069T>A (p.Leu690Gln) c.2333T>A (p.Leu778Gln) c.2531T>A (p.Leu844Gln) c.2936T>A (p.Leu979Gln) | |
15 | g.22903860G>A | CA488526500 | CYFIP1 | c.2428C>T (p.Leu810=) c.2434C>T (p.Leu812=) c.1141C>T (p.Leu381=) n.827C>T n.1581C>T c.2833C>T (p.Leu945=) c.2536C>T (p.Leu846=) c.754C>T (p.Leu252=) c.2344C>T (p.Leu782=) c.2068C>T (p.Leu690=) c.2332C>T (p.Leu778=) c.2530C>T (p.Leu844=) c.2935C>T (p.Leu979=) | |
15 | g.22903860G>C | CA267616613 | CYFIP1 | c.2428C>G (p.Leu810Val) c.2434C>G (p.Leu812Val) c.1141C>G (p.Leu381Val) n.827C>G n.1581C>G c.2833C>G (p.Leu945Val) c.2536C>G (p.Leu846Val) c.754C>G (p.Leu252Val) c.2344C>G (p.Leu782Val) c.2068C>G (p.Leu690Val) c.2332C>G (p.Leu778Val) c.2530C>G (p.Leu844Val) c.2935C>G (p.Leu979Val) | dbSNP gnomAD v4 |
15 | g.22903860G= | CA2163978130 | CYFIP1 | c.2428C= (p.Leu810=) c.2434C= (p.Leu812=) c.1141C= (p.Leu381=) n.827C= n.1581C= c.2833C= (p.Leu945=) c.2536C= (p.Leu846=) c.754C= (p.Leu252=) c.2344C= (p.Leu782=) c.2068C= (p.Leu690=) c.2332C= (p.Leu778=) c.2530C= (p.Leu844=) c.2935C= (p.Leu979=) | |
15 | g.22903860G>T | CA391334734 | CYFIP1 | c.2428C>A (p.Leu810Met) c.2434C>A (p.Leu812Met) c.1141C>A (p.Leu381Met) n.827C>A n.1581C>A c.2833C>A (p.Leu945Met) c.2536C>A (p.Leu846Met) c.754C>A (p.Leu252Met) c.2344C>A (p.Leu782Met) c.2068C>A (p.Leu690Met) c.2332C>A (p.Leu778Met) c.2530C>A (p.Leu844Met) c.2935C>A (p.Leu979Met) | |
15 | g.22903861C>A | CA488526501 | CYFIP1 | c.2427G>T (p.Leu809=) c.2433G>T (p.Leu811=) c.1140G>T (p.Leu380=) n.826G>T n.1580G>T c.2832G>T (p.Leu944=) c.2535G>T (p.Leu845=) c.753G>T (p.Leu251=) c.2343G>T (p.Leu781=) c.2067G>T (p.Leu689=) c.2331G>T (p.Leu777=) c.2529G>T (p.Leu843=) c.2934G>T (p.Leu978=) | |
15 | g.22903861C>G | CA488526502 | CYFIP1 | c.2427G>C (p.Leu809=) c.2433G>C (p.Leu811=) c.1140G>C (p.Leu380=) n.826G>C n.1580G>C c.2832G>C (p.Leu944=) c.2535G>C (p.Leu845=) c.753G>C (p.Leu251=) c.2343G>C (p.Leu781=) c.2067G>C (p.Leu689=) c.2331G>C (p.Leu777=) c.2529G>C (p.Leu843=) c.2934G>C (p.Leu978=) | |
15 | g.22903861C>T | CA488526503 | CYFIP1 | c.2427G>A (p.Leu809=) c.2433G>A (p.Leu811=) c.1140G>A (p.Leu380=) n.826G>A n.1580G>A c.2832G>A (p.Leu944=) c.2535G>A (p.Leu845=) c.753G>A (p.Leu251=) c.2343G>A (p.Leu781=) c.2067G>A (p.Leu689=) c.2331G>A (p.Leu777=) c.2529G>A (p.Leu843=) c.2934G>A (p.Leu978=) | |
15 | g.22903862A>C | CA391334738 | CYFIP1 | c.2426T>G (p.Leu809Arg) c.2432T>G (p.Leu811Arg) c.1139T>G (p.Leu380Arg) n.825T>G n.1579T>G c.2831T>G (p.Leu944Arg) c.2534T>G (p.Leu845Arg) c.752T>G (p.Leu251Arg) c.2342T>G (p.Leu781Arg) c.2066T>G (p.Leu689Arg) c.2330T>G (p.Leu777Arg) c.2528T>G (p.Leu843Arg) c.2933T>G (p.Leu978Arg) | |
15 | g.22903862A>G | CA391334740 | CYFIP1 | c.2426T>C (p.Leu809Pro) c.2432T>C (p.Leu811Pro) c.1139T>C (p.Leu380Pro) n.825T>C n.1579T>C c.2831T>C (p.Leu944Pro) c.2534T>C (p.Leu845Pro) c.752T>C (p.Leu251Pro) c.2342T>C (p.Leu781Pro) c.2066T>C (p.Leu689Pro) c.2330T>C (p.Leu777Pro) c.2528T>C (p.Leu843Pro) c.2933T>C (p.Leu978Pro) | |
15 | g.22903862A>T | CA391334736 | CYFIP1 | c.2426T>A (p.Leu809Gln) c.2432T>A (p.Leu811Gln) c.1139T>A (p.Leu380Gln) n.825T>A n.1579T>A c.2831T>A (p.Leu944Gln) c.2534T>A (p.Leu845Gln) c.752T>A (p.Leu251Gln) c.2342T>A (p.Leu781Gln) c.2066T>A (p.Leu689Gln) c.2330T>A (p.Leu777Gln) c.2528T>A (p.Leu843Gln) c.2933T>A (p.Leu978Gln) | |
15 | g.22903863G>A | CA488526504 | CYFIP1 | c.2425C>T (p.Leu809=) c.2431C>T (p.Leu811=) c.1138C>T (p.Leu380=) n.824C>T n.1578C>T c.2830C>T (p.Leu944=) c.2533C>T (p.Leu845=) c.751C>T (p.Leu251=) c.2341C>T (p.Leu781=) c.2065C>T (p.Leu689=) c.2329C>T (p.Leu777=) c.2527C>T (p.Leu843=) c.2932C>T (p.Leu978=) | |
15 | g.22903863G>C | CA391334744 | CYFIP1 | c.2425C>G (p.Leu809Val) c.2431C>G (p.Leu811Val) c.1138C>G (p.Leu380Val) n.824C>G n.1578C>G c.2830C>G (p.Leu944Val) c.2533C>G (p.Leu845Val) c.751C>G (p.Leu251Val) c.2341C>G (p.Leu781Val) c.2065C>G (p.Leu689Val) c.2329C>G (p.Leu777Val) c.2527C>G (p.Leu843Val) c.2932C>G (p.Leu978Val) | |
15 | g.22903863G>T | CA391334742 | CYFIP1 | c.2425C>A (p.Leu809Met) c.2431C>A (p.Leu811Met) c.1138C>A (p.Leu380Met) n.824C>A n.1578C>A c.2830C>A (p.Leu944Met) c.2533C>A (p.Leu845Met) c.751C>A (p.Leu251Met) c.2341C>A (p.Leu781Met) c.2065C>A (p.Leu689Met) c.2329C>A (p.Leu777Met) c.2527C>A (p.Leu843Met) c.2932C>A (p.Leu978Met) | |
15 | g.22903864C>A | CA391334747 | CYFIP1 | c.2424G>T (p.Lys808Asn) c.2430G>T (p.Lys810Asn) c.1137G>T (p.Lys379Asn) n.823G>T n.1577G>T c.2829G>T (p.Lys943Asn) c.2532G>T (p.Lys844Asn) c.750G>T (p.Lys250Asn) c.2340G>T (p.Lys780Asn) c.2064G>T (p.Lys688Asn) c.2328G>T (p.Lys776Asn) c.2526G>T (p.Lys842Asn) c.2931G>T (p.Lys977Asn) | |
15 | g.22903864C>G | CA391334746 | CYFIP1 | c.2424G>C (p.Lys808Asn) c.2430G>C (p.Lys810Asn) c.1137G>C (p.Lys379Asn) n.823G>C n.1577G>C c.2829G>C (p.Lys943Asn) c.2532G>C (p.Lys844Asn) c.750G>C (p.Lys250Asn) c.2340G>C (p.Lys780Asn) c.2064G>C (p.Lys688Asn) c.2328G>C (p.Lys776Asn) c.2526G>C (p.Lys842Asn) c.2931G>C (p.Lys977Asn) | |
15 | g.22903864C>T | CA488526505 | CYFIP1 | c.2424G>A (p.Lys808=) c.2430G>A (p.Lys810=) c.1137G>A (p.Lys379=) n.823G>A n.1577G>A c.2829G>A (p.Lys943=) c.2532G>A (p.Lys844=) c.750G>A (p.Lys250=) c.2340G>A (p.Lys780=) c.2064G>A (p.Lys688=) c.2328G>A (p.Lys776=) c.2526G>A (p.Lys842=) c.2931G>A (p.Lys977=) | |
15 | g.22903865T>A | CA391334750 | CYFIP1 | c.2423A>T (p.Lys808Met) c.2429A>T (p.Lys810Met) c.1136A>T (p.Lys379Met) n.822A>T n.1576A>T c.2828A>T (p.Lys943Met) c.2531A>T (p.Lys844Met) c.749A>T (p.Lys250Met) c.2339A>T (p.Lys780Met) c.2063A>T (p.Lys688Met) c.2327A>T (p.Lys776Met) c.2525A>T (p.Lys842Met) c.2930A>T (p.Lys977Met) | gnomAD v4 |
15 | g.22903865T>C | CA391334752 | CYFIP1 | c.2423A>G (p.Lys808Arg) c.2429A>G (p.Lys810Arg) c.1136A>G (p.Lys379Arg) n.822A>G n.1576A>G c.2828A>G (p.Lys943Arg) c.2531A>G (p.Lys844Arg) c.749A>G (p.Lys250Arg) c.2339A>G (p.Lys780Arg) c.2063A>G (p.Lys688Arg) c.2327A>G (p.Lys776Arg) c.2525A>G (p.Lys842Arg) c.2930A>G (p.Lys977Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903865T>G | CA391334753 | CYFIP1 | c.2423A>C (p.Lys808Thr) c.2429A>C (p.Lys810Thr) c.1136A>C (p.Lys379Thr) n.822A>C n.1576A>C c.2828A>C (p.Lys943Thr) c.2531A>C (p.Lys844Thr) c.749A>C (p.Lys250Thr) c.2339A>C (p.Lys780Thr) c.2063A>C (p.Lys688Thr) c.2327A>C (p.Lys776Thr) c.2525A>C (p.Lys842Thr) c.2930A>C (p.Lys977Thr) | |
15 | g.22903865T= | CA2163978132 | CYFIP1 | c.2423A= (p.Lys808=) c.2429A= (p.Lys810=) c.1136A= (p.Lys379=) n.822A= n.1576A= c.2828A= (p.Lys943=) c.2531A= (p.Lys844=) c.749A= (p.Lys250=) c.2339A= (p.Lys780=) c.2063A= (p.Lys688=) c.2327A= (p.Lys776=) c.2525A= (p.Lys842=) c.2930A= (p.Lys977=) | |
15 | g.22903866T>A | CA391334755 | CYFIP1 | c.2422A>T (p.Lys808Ter) c.2428A>T (p.Lys810Ter) c.1135A>T (p.Lys379Ter) n.821A>T n.1575A>T c.2827A>T (p.Lys943Ter) c.2530A>T (p.Lys844Ter) c.748A>T (p.Lys250Ter) c.2338A>T (p.Lys780Ter) c.2062A>T (p.Lys688Ter) c.2326A>T (p.Lys776Ter) c.2524A>T (p.Lys842Ter) c.2929A>T (p.Lys977Ter) | |
15 | g.22903866T>C | CA7425096 | CYFIP1 | c.2422A>G (p.Lys808Glu) c.2428A>G (p.Lys810Glu) c.1135A>G (p.Lys379Glu) n.821A>G n.1575A>G c.2827A>G (p.Lys943Glu) c.2530A>G (p.Lys844Glu) c.748A>G (p.Lys250Glu) c.2338A>G (p.Lys780Glu) c.2062A>G (p.Lys688Glu) c.2326A>G (p.Lys776Glu) c.2524A>G (p.Lys842Glu) c.2929A>G (p.Lys977Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903866T>G | CA391334758 | CYFIP1 | c.2422A>C (p.Lys808Gln) c.2428A>C (p.Lys810Gln) c.1135A>C (p.Lys379Gln) n.821A>C n.1575A>C c.2827A>C (p.Lys943Gln) c.2530A>C (p.Lys844Gln) c.748A>C (p.Lys250Gln) c.2338A>C (p.Lys780Gln) c.2062A>C (p.Lys688Gln) c.2326A>C (p.Lys776Gln) c.2524A>C (p.Lys842Gln) c.2929A>C (p.Lys977Gln) | |
15 | g.22903866T= | CA2163978134 | CYFIP1 | c.2422A= (p.Lys808=) c.2428A= (p.Lys810=) c.1135A= (p.Lys379=) n.821A= n.1575A= c.2827A= (p.Lys943=) c.2530A= (p.Lys844=) c.748A= (p.Lys250=) c.2338A= (p.Lys780=) c.2062A= (p.Lys688=) c.2326A= (p.Lys776=) c.2524A= (p.Lys842=) c.2929A= (p.Lys977=) | |
15 | g.22903867G>A | CA488526506 | CYFIP1 | c.2421C>T (p.His807=) c.2427C>T (p.His809=) c.1134C>T (p.His378=) n.820C>T n.1574C>T c.2826C>T (p.His942=) c.2529C>T (p.His843=) c.747C>T (p.His249=) c.2337C>T (p.His779=) c.2061C>T (p.His687=) c.2325C>T (p.His775=) c.2523C>T (p.His841=) c.2928C>T (p.His976=) | |
15 | g.22903867G>C | CA391334762 | CYFIP1 | c.2421C>G (p.His807Gln) c.2427C>G (p.His809Gln) c.1134C>G (p.His378Gln) n.820C>G n.1574C>G c.2826C>G (p.His942Gln) c.2529C>G (p.His843Gln) c.747C>G (p.His249Gln) c.2337C>G (p.His779Gln) c.2061C>G (p.His687Gln) c.2325C>G (p.His775Gln) c.2523C>G (p.His841Gln) c.2928C>G (p.His976Gln) | |
15 | g.22903867G>T | CA391334760 | CYFIP1 | c.2421C>A (p.His807Gln) c.2427C>A (p.His809Gln) c.1134C>A (p.His378Gln) n.820C>A n.1574C>A c.2826C>A (p.His942Gln) c.2529C>A (p.His843Gln) c.747C>A (p.His249Gln) c.2337C>A (p.His779Gln) c.2061C>A (p.His687Gln) c.2325C>A (p.His775Gln) c.2523C>A (p.His841Gln) c.2928C>A (p.His976Gln) | gnomAD v4 |
15 | g.22903868T>A | CA391334764 | CYFIP1 | c.2420A>T (p.His807Leu) c.2426A>T (p.His809Leu) c.1133A>T (p.His378Leu) n.819A>T n.1573A>T c.2825A>T (p.His942Leu) c.2528A>T (p.His843Leu) c.746A>T (p.His249Leu) c.2336A>T (p.His779Leu) c.2060A>T (p.His687Leu) c.2324A>T (p.His775Leu) c.2522A>T (p.His841Leu) c.2927A>T (p.His976Leu) | dbSNP gnomAD v4 |
15 | g.22903868T>C | CA7425095 | CYFIP1 | c.2420A>G (p.His807Arg) c.2426A>G (p.His809Arg) c.1133A>G (p.His378Arg) n.819A>G n.1573A>G c.2825A>G (p.His942Arg) c.2528A>G (p.His843Arg) c.746A>G (p.His249Arg) c.2336A>G (p.His779Arg) c.2060A>G (p.His687Arg) c.2324A>G (p.His775Arg) c.2522A>G (p.His841Arg) c.2927A>G (p.His976Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903868T>G | CA391334767 | CYFIP1 | c.2420A>C (p.His807Pro) c.2426A>C (p.His809Pro) c.1133A>C (p.His378Pro) n.819A>C n.1573A>C c.2825A>C (p.His942Pro) c.2528A>C (p.His843Pro) c.746A>C (p.His249Pro) c.2336A>C (p.His779Pro) c.2060A>C (p.His687Pro) c.2324A>C (p.His775Pro) c.2522A>C (p.His841Pro) c.2927A>C (p.His976Pro) | dbSNP |
15 | g.22903868T= | CA2163978137 | CYFIP1 | c.2420A= (p.His807=) c.2426A= (p.His809=) c.1133A= (p.His378=) n.819A= n.1573A= c.2825A= (p.His942=) c.2528A= (p.His843=) c.746A= (p.His249=) c.2336A= (p.His779=) c.2060A= (p.His687=) c.2324A= (p.His775=) c.2522A= (p.His841=) c.2927A= (p.His976=) | |
15 | g.22903869G>A | CA391334769 | CYFIP1 | c.2419C>T (p.His807Tyr) c.2425C>T (p.His809Tyr) c.1132C>T (p.His378Tyr) n.818C>T n.1572C>T c.2824C>T (p.His942Tyr) c.2527C>T (p.His843Tyr) c.745C>T (p.His249Tyr) c.2335C>T (p.His779Tyr) c.2059C>T (p.His687Tyr) c.2323C>T (p.His775Tyr) c.2521C>T (p.His841Tyr) c.2926C>T (p.His976Tyr) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903869G>C | CA391334770 | CYFIP1 | c.2419C>G (p.His807Asp) c.2425C>G (p.His809Asp) c.1132C>G (p.His378Asp) n.818C>G n.1572C>G c.2824C>G (p.His942Asp) c.2527C>G (p.His843Asp) c.745C>G (p.His249Asp) c.2335C>G (p.His779Asp) c.2059C>G (p.His687Asp) c.2323C>G (p.His775Asp) c.2521C>G (p.His841Asp) c.2926C>G (p.His976Asp) | |
15 | g.22903869G= | CA2163978141 | CYFIP1 | c.2419C= (p.His807=) c.2425C= (p.His809=) c.1132C= (p.His378=) n.818C= n.1572C= c.2824C= (p.His942=) c.2527C= (p.His843=) c.745C= (p.His249=) c.2335C= (p.His779=) c.2059C= (p.His687=) c.2323C= (p.His775=) c.2521C= (p.His841=) c.2926C= (p.His976=) | |
15 | g.22903869G>T | CA391334772 | CYFIP1 | c.2419C>A (p.His807Asn) c.2425C>A (p.His809Asn) c.1132C>A (p.His378Asn) n.818C>A n.1572C>A c.2824C>A (p.His942Asn) c.2527C>A (p.His843Asn) c.745C>A (p.His249Asn) c.2335C>A (p.His779Asn) c.2059C>A (p.His687Asn) c.2323C>A (p.His775Asn) c.2521C>A (p.His841Asn) c.2926C>A (p.His976Asn) | |
15 | g.22903870G>A | CA488526508 | CYFIP1 | c.2418C>T (p.Thr806=) c.2424C>T (p.Thr808=) c.1131C>T (p.Thr377=) n.817C>T n.1571C>T c.2823C>T (p.Thr941=) c.2526C>T (p.Thr842=) c.744C>T (p.Thr248=) c.2334C>T (p.Thr778=) c.2058C>T (p.Thr686=) c.2322C>T (p.Thr774=) c.2520C>T (p.Thr840=) c.2925C>T (p.Thr975=) | |
15 | g.22903870G>C | CA488526507 | CYFIP1 | c.2418C>G (p.Thr806=) c.2424C>G (p.Thr808=) c.1131C>G (p.Thr377=) n.817C>G n.1571C>G c.2823C>G (p.Thr941=) c.2526C>G (p.Thr842=) c.744C>G (p.Thr248=) c.2334C>G (p.Thr778=) c.2058C>G (p.Thr686=) c.2322C>G (p.Thr774=) c.2520C>G (p.Thr840=) c.2925C>G (p.Thr975=) | |
15 | g.22903870G>T | CA488526509 | CYFIP1 | c.2418C>A (p.Thr806=) c.2424C>A (p.Thr808=) c.1131C>A (p.Thr377=) n.817C>A n.1571C>A c.2823C>A (p.Thr941=) c.2526C>A (p.Thr842=) c.744C>A (p.Thr248=) c.2334C>A (p.Thr778=) c.2058C>A (p.Thr686=) c.2322C>A (p.Thr774=) c.2520C>A (p.Thr840=) c.2925C>A (p.Thr975=) | |
15 | g.22903871G>A | CA391334773 | CYFIP1 | c.2417C>T (p.Thr806Ile) c.2423C>T (p.Thr808Ile) c.1130C>T (p.Thr377Ile) n.816C>T n.1570C>T c.2822C>T (p.Thr941Ile) c.2525C>T (p.Thr842Ile) c.743C>T (p.Thr248Ile) c.2333C>T (p.Thr778Ile) c.2057C>T (p.Thr686Ile) c.2321C>T (p.Thr774Ile) c.2519C>T (p.Thr840Ile) c.2924C>T (p.Thr975Ile) | |
15 | g.22903871G>C | CA391334776 | CYFIP1 | c.2417C>G (p.Thr806Ser) c.2423C>G (p.Thr808Ser) c.1130C>G (p.Thr377Ser) n.816C>G n.1570C>G c.2822C>G (p.Thr941Ser) c.2525C>G (p.Thr842Ser) c.743C>G (p.Thr248Ser) c.2333C>G (p.Thr778Ser) c.2057C>G (p.Thr686Ser) c.2321C>G (p.Thr774Ser) c.2519C>G (p.Thr840Ser) c.2924C>G (p.Thr975Ser) | |
15 | g.22903871G>T | CA391334775 | CYFIP1 | c.2417C>A (p.Thr806Asn) c.2423C>A (p.Thr808Asn) c.1130C>A (p.Thr377Asn) n.816C>A n.1570C>A c.2822C>A (p.Thr941Asn) c.2525C>A (p.Thr842Asn) c.743C>A (p.Thr248Asn) c.2333C>A (p.Thr778Asn) c.2057C>A (p.Thr686Asn) c.2321C>A (p.Thr774Asn) c.2519C>A (p.Thr840Asn) c.2924C>A (p.Thr975Asn) | gnomAD v4 |
15 | g.22903872T>A | CA391334777 | CYFIP1 | c.2416A>T (p.Thr806Ser) c.2422A>T (p.Thr808Ser) c.1129A>T (p.Thr377Ser) n.815A>T n.1569A>T c.2821A>T (p.Thr941Ser) c.2524A>T (p.Thr842Ser) c.742A>T (p.Thr248Ser) c.2332A>T (p.Thr778Ser) c.2056A>T (p.Thr686Ser) c.2320A>T (p.Thr774Ser) c.2518A>T (p.Thr840Ser) c.2923A>T (p.Thr975Ser) | |
15 | g.22903872T>C | CA391334778 | CYFIP1 | c.2416A>G (p.Thr806Ala) c.2422A>G (p.Thr808Ala) c.1129A>G (p.Thr377Ala) n.815A>G n.1569A>G c.2821A>G (p.Thr941Ala) c.2524A>G (p.Thr842Ala) c.742A>G (p.Thr248Ala) c.2332A>G (p.Thr778Ala) c.2056A>G (p.Thr686Ala) c.2320A>G (p.Thr774Ala) c.2518A>G (p.Thr840Ala) c.2923A>G (p.Thr975Ala) | |
15 | g.22903872T>G | CA391334780 | CYFIP1 | c.2416A>C (p.Thr806Pro) c.2422A>C (p.Thr808Pro) c.1129A>C (p.Thr377Pro) n.815A>C n.1569A>C c.2821A>C (p.Thr941Pro) c.2524A>C (p.Thr842Pro) c.742A>C (p.Thr248Pro) c.2332A>C (p.Thr778Pro) c.2056A>C (p.Thr686Pro) c.2320A>C (p.Thr774Pro) c.2518A>C (p.Thr840Pro) c.2923A>C (p.Thr975Pro) | |
15 | g.22903873C>A | CA391334782 | CYFIP1 | c.2415G>T (p.Met805Ile) c.2421G>T (p.Met807Ile) c.1128G>T (p.Met376Ile) n.814G>T n.1568G>T c.2820G>T (p.Met940Ile) c.2523G>T (p.Met841Ile) c.741G>T (p.Met247Ile) c.2331G>T (p.Met777Ile) c.2055G>T (p.Met685Ile) c.2319G>T (p.Met773Ile) c.2517G>T (p.Met839Ile) c.2922G>T (p.Met974Ile) | |
15 | g.22903873C>G | CA391334783 | CYFIP1 | c.2415G>C (p.Met805Ile) c.2421G>C (p.Met807Ile) c.1128G>C (p.Met376Ile) n.814G>C n.1568G>C c.2820G>C (p.Met940Ile) c.2523G>C (p.Met841Ile) c.741G>C (p.Met247Ile) c.2331G>C (p.Met777Ile) c.2055G>C (p.Met685Ile) c.2319G>C (p.Met773Ile) c.2517G>C (p.Met839Ile) c.2922G>C (p.Met974Ile) | |
15 | g.22903873C>T | CA391334785 | CYFIP1 | c.2415G>A (p.Met805Ile) c.2421G>A (p.Met807Ile) c.1128G>A (p.Met376Ile) n.814G>A n.1568G>A c.2820G>A (p.Met940Ile) c.2523G>A (p.Met841Ile) c.741G>A (p.Met247Ile) c.2331G>A (p.Met777Ile) c.2055G>A (p.Met685Ile) c.2319G>A (p.Met773Ile) c.2517G>A (p.Met839Ile) c.2922G>A (p.Met974Ile) | |
15 | g.22903874A>C | CA391334787 | CYFIP1 | c.2414T>G (p.Met805Arg) c.2420T>G (p.Met807Arg) c.1127T>G (p.Met376Arg) n.813T>G n.1567T>G c.2819T>G (p.Met940Arg) c.2522T>G (p.Met841Arg) c.740T>G (p.Met247Arg) c.2330T>G (p.Met777Arg) c.2054T>G (p.Met685Arg) c.2318T>G (p.Met773Arg) c.2516T>G (p.Met839Arg) c.2921T>G (p.Met974Arg) | |
15 | g.22903874A>G | CA391334789 | CYFIP1 | c.2414T>C (p.Met805Thr) c.2420T>C (p.Met807Thr) c.1127T>C (p.Met376Thr) n.813T>C n.1567T>C c.2819T>C (p.Met940Thr) c.2522T>C (p.Met841Thr) c.740T>C (p.Met247Thr) c.2330T>C (p.Met777Thr) c.2054T>C (p.Met685Thr) c.2318T>C (p.Met773Thr) c.2516T>C (p.Met839Thr) c.2921T>C (p.Met974Thr) | |
15 | g.22903874A>T | CA391334791 | CYFIP1 | c.2414T>A (p.Met805Lys) c.2420T>A (p.Met807Lys) c.1127T>A (p.Met376Lys) n.813T>A n.1567T>A c.2819T>A (p.Met940Lys) c.2522T>A (p.Met841Lys) c.740T>A (p.Met247Lys) c.2330T>A (p.Met777Lys) c.2054T>A (p.Met685Lys) c.2318T>A (p.Met773Lys) c.2516T>A (p.Met839Lys) c.2921T>A (p.Met974Lys) | |
15 | g.22903875T>A | CA391334792 | CYFIP1 | c.2413A>T (p.Met805Leu) c.2419A>T (p.Met807Leu) c.1126A>T (p.Met376Leu) n.812A>T n.1566A>T c.2818A>T (p.Met940Leu) c.2521A>T (p.Met841Leu) c.739A>T (p.Met247Leu) c.2329A>T (p.Met777Leu) c.2053A>T (p.Met685Leu) c.2317A>T (p.Met773Leu) c.2515A>T (p.Met839Leu) c.2920A>T (p.Met974Leu) | |
15 | g.22903875T>C | CA267616622 | CYFIP1 | c.2413A>G (p.Met805Val) c.2419A>G (p.Met807Val) c.1126A>G (p.Met376Val) n.812A>G n.1566A>G c.2818A>G (p.Met940Val) c.2521A>G (p.Met841Val) c.739A>G (p.Met247Val) c.2329A>G (p.Met777Val) c.2053A>G (p.Met685Val) c.2317A>G (p.Met773Val) c.2515A>G (p.Met839Val) c.2920A>G (p.Met974Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903875T>G | CA391334794 | CYFIP1 | c.2413A>C (p.Met805Leu) c.2419A>C (p.Met807Leu) c.1126A>C (p.Met376Leu) n.812A>C n.1566A>C c.2818A>C (p.Met940Leu) c.2521A>C (p.Met841Leu) c.739A>C (p.Met247Leu) c.2329A>C (p.Met777Leu) c.2053A>C (p.Met685Leu) c.2317A>C (p.Met773Leu) c.2515A>C (p.Met839Leu) c.2920A>C (p.Met974Leu) | gnomAD v4 |
15 | g.22903875T= | CA2163978146 | CYFIP1 | c.2413A= (p.Met805=) c.2419A= (p.Met807=) c.1126A= (p.Met376=) n.812A= n.1566A= c.2818A= (p.Met940=) c.2521A= (p.Met841=) c.739A= (p.Met247=) c.2329A= (p.Met777=) c.2053A= (p.Met685=) c.2317A= (p.Met773=) c.2515A= (p.Met839=) c.2920A= (p.Met974=) | |
15 | g.22903876G>A | CA488526512 | CYFIP1 | c.2412C>T (p.Arg804=) c.2418C>T (p.Arg806=) c.1125C>T (p.Arg375=) n.811C>T n.1565C>T c.2817C>T (p.Arg939=) c.2520C>T (p.Arg840=) c.738C>T (p.Arg246=) c.2328C>T (p.Arg776=) c.2052C>T (p.Arg684=) c.2316C>T (p.Arg772=) c.2514C>T (p.Arg838=) c.2919C>T (p.Arg973=) | dbSNP gnomAD v4 |
15 | g.22903876G>C | CA488526510 | CYFIP1 | c.2412C>G (p.Arg804=) c.2418C>G (p.Arg806=) c.1125C>G (p.Arg375=) n.811C>G n.1565C>G c.2817C>G (p.Arg939=) c.2520C>G (p.Arg840=) c.738C>G (p.Arg246=) c.2328C>G (p.Arg776=) c.2052C>G (p.Arg684=) c.2316C>G (p.Arg772=) c.2514C>G (p.Arg838=) c.2919C>G (p.Arg973=) | |
15 | g.22903876G>T | CA488526511 | CYFIP1 | c.2412C>A (p.Arg804=) c.2418C>A (p.Arg806=) c.1125C>A (p.Arg375=) n.811C>A n.1565C>A c.2817C>A (p.Arg939=) c.2520C>A (p.Arg840=) c.738C>A (p.Arg246=) c.2328C>A (p.Arg776=) c.2052C>A (p.Arg684=) c.2316C>A (p.Arg772=) c.2514C>A (p.Arg838=) c.2919C>A (p.Arg973=) | |
15 | g.22903877C>A | CA267616633 | CYFIP1 | c.2411G>T (p.Arg804Leu) c.2417G>T (p.Arg806Leu) c.1124G>T (p.Arg375Leu) n.810G>T n.1564G>T c.2816G>T (p.Arg939Leu) c.2519G>T (p.Arg840Leu) c.737G>T (p.Arg246Leu) c.2327G>T (p.Arg776Leu) c.2051G>T (p.Arg684Leu) c.2315G>T (p.Arg772Leu) c.2513G>T (p.Arg838Leu) c.2918G>T (p.Arg973Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903877C= | CA2163978149 | CYFIP1 | c.2411G= (p.Arg804=) c.2417G= (p.Arg806=) c.1124G= (p.Arg375=) n.810G= n.1564G= c.2816G= (p.Arg939=) c.2519G= (p.Arg840=) c.737G= (p.Arg246=) c.2327G= (p.Arg776=) c.2051G= (p.Arg684=) c.2315G= (p.Arg772=) c.2513G= (p.Arg838=) c.2918G= (p.Arg973=) | |
15 | g.22903877C>G | CA391334799 | CYFIP1 | c.2411G>C (p.Arg804Pro) c.2417G>C (p.Arg806Pro) c.1124G>C (p.Arg375Pro) n.810G>C n.1564G>C c.2816G>C (p.Arg939Pro) c.2519G>C (p.Arg840Pro) c.737G>C (p.Arg246Pro) c.2327G>C (p.Arg776Pro) c.2051G>C (p.Arg684Pro) c.2315G>C (p.Arg772Pro) c.2513G>C (p.Arg838Pro) c.2918G>C (p.Arg973Pro) | |
15 | g.22903877C>T | CA7425094 | CYFIP1 | c.2411G>A (p.Arg804His) c.2417G>A (p.Arg806His) c.1124G>A (p.Arg375His) n.810G>A n.1564G>A c.2816G>A (p.Arg939His) c.2519G>A (p.Arg840His) c.737G>A (p.Arg246His) c.2327G>A (p.Arg776His) c.2051G>A (p.Arg684His) c.2315G>A (p.Arg772His) c.2513G>A (p.Arg838His) c.2918G>A (p.Arg973His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903878G>A | CA7425093 | CYFIP1 | c.2410C>T (p.Arg804Cys) c.2416C>T (p.Arg806Cys) c.1123C>T (p.Arg375Cys) n.809C>T n.1563C>T c.2815C>T (p.Arg939Cys) c.2518C>T (p.Arg840Cys) c.736C>T (p.Arg246Cys) c.2326C>T (p.Arg776Cys) c.2050C>T (p.Arg684Cys) c.2314C>T (p.Arg772Cys) c.2512C>T (p.Arg838Cys) c.2917C>T (p.Arg973Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903878G>C | CA391334802 | CYFIP1 | c.2410C>G (p.Arg804Gly) c.2416C>G (p.Arg806Gly) c.1123C>G (p.Arg375Gly) n.809C>G n.1563C>G c.2815C>G (p.Arg939Gly) c.2518C>G (p.Arg840Gly) c.736C>G (p.Arg246Gly) c.2326C>G (p.Arg776Gly) c.2050C>G (p.Arg684Gly) c.2314C>G (p.Arg772Gly) c.2512C>G (p.Arg838Gly) c.2917C>G (p.Arg973Gly) | |
15 | g.22903878G= | CA2163978151 | CYFIP1 | c.2410C= (p.Arg804=) c.2416C= (p.Arg806=) c.1123C= (p.Arg375=) n.809C= n.1563C= c.2815C= (p.Arg939=) c.2518C= (p.Arg840=) c.736C= (p.Arg246=) c.2326C= (p.Arg776=) c.2050C= (p.Arg684=) c.2314C= (p.Arg772=) c.2512C= (p.Arg838=) c.2917C= (p.Arg973=) | |
15 | g.22903878G>T | CA391334804 | CYFIP1 | c.2410C>A (p.Arg804Ser) c.2416C>A (p.Arg806Ser) c.1123C>A (p.Arg375Ser) n.809C>A n.1563C>A c.2815C>A (p.Arg939Ser) c.2518C>A (p.Arg840Ser) c.736C>A (p.Arg246Ser) c.2326C>A (p.Arg776Ser) c.2050C>A (p.Arg684Ser) c.2314C>A (p.Arg772Ser) c.2512C>A (p.Arg838Ser) c.2917C>A (p.Arg973Ser) | |
15 | g.22903879G>A | CA7425092 | CYFIP1 | c.2409C>T (p.Asn803=) c.2415C>T (p.Asn805=) c.1122C>T (p.Asn374=) n.808C>T n.1562C>T c.2814C>T (p.Asn938=) c.2517C>T (p.Asn839=) c.735C>T (p.Asn245=) c.2325C>T (p.Asn775=) c.2049C>T (p.Asn683=) c.2313C>T (p.Asn771=) c.2511C>T (p.Asn837=) c.2916C>T (p.Asn972=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.22903879G>C | CA391334806 | CYFIP1 | c.2409C>G (p.Asn803Lys) c.2415C>G (p.Asn805Lys) c.1122C>G (p.Asn374Lys) n.808C>G n.1562C>G c.2814C>G (p.Asn938Lys) c.2517C>G (p.Asn839Lys) c.735C>G (p.Asn245Lys) c.2325C>G (p.Asn775Lys) c.2049C>G (p.Asn683Lys) c.2313C>G (p.Asn771Lys) c.2511C>G (p.Asn837Lys) c.2916C>G (p.Asn972Lys) | |
15 | g.22903879G= | CA2163978154 | CYFIP1 | c.2409C= (p.Asn803=) c.2415C= (p.Asn805=) c.1122C= (p.Asn374=) n.808C= n.1562C= c.2814C= (p.Asn938=) c.2517C= (p.Asn839=) c.735C= (p.Asn245=) c.2325C= (p.Asn775=) c.2049C= (p.Asn683=) c.2313C= (p.Asn771=) c.2511C= (p.Asn837=) c.2916C= (p.Asn972=) | |
15 | g.22903879G>T | CA391334808 | CYFIP1 | c.2409C>A (p.Asn803Lys) c.2415C>A (p.Asn805Lys) c.1122C>A (p.Asn374Lys) n.808C>A n.1562C>A c.2814C>A (p.Asn938Lys) c.2517C>A (p.Asn839Lys) c.735C>A (p.Asn245Lys) c.2325C>A (p.Asn775Lys) c.2049C>A (p.Asn683Lys) c.2313C>A (p.Asn771Lys) c.2511C>A (p.Asn837Lys) c.2916C>A (p.Asn972Lys) | |
15 | g.22903880T>A | CA391334810 | CYFIP1 | c.2408A>T (p.Asn803Ile) c.2414A>T (p.Asn805Ile) c.1121A>T (p.Asn374Ile) n.807A>T n.1561A>T c.2813A>T (p.Asn938Ile) c.2516A>T (p.Asn839Ile) c.734A>T (p.Asn245Ile) c.2324A>T (p.Asn775Ile) c.2048A>T (p.Asn683Ile) c.2312A>T (p.Asn771Ile) c.2510A>T (p.Asn837Ile) c.2915A>T (p.Asn972Ile) | |
15 | g.22903880T>C | CA7425091 | CYFIP1 | c.2408A>G (p.Asn803Ser) c.2414A>G (p.Asn805Ser) c.1121A>G (p.Asn374Ser) n.807A>G n.1561A>G c.2813A>G (p.Asn938Ser) c.2516A>G (p.Asn839Ser) c.734A>G (p.Asn245Ser) c.2324A>G (p.Asn775Ser) c.2048A>G (p.Asn683Ser) c.2312A>G (p.Asn771Ser) c.2510A>G (p.Asn837Ser) c.2915A>G (p.Asn972Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22903880T>G | CA391334813 | CYFIP1 | c.2408A>C (p.Asn803Thr) c.2414A>C (p.Asn805Thr) c.1121A>C (p.Asn374Thr) n.807A>C n.1561A>C c.2813A>C (p.Asn938Thr) c.2516A>C (p.Asn839Thr) c.734A>C (p.Asn245Thr) c.2324A>C (p.Asn775Thr) c.2048A>C (p.Asn683Thr) c.2312A>C (p.Asn771Thr) c.2510A>C (p.Asn837Thr) c.2915A>C (p.Asn972Thr) | gnomAD v4 |
15 | g.22903880T= | CA2163978157 | CYFIP1 | c.2408A= (p.Asn803=) c.2414A= (p.Asn805=) c.1121A= (p.Asn374=) n.807A= n.1561A= c.2813A= (p.Asn938=) c.2516A= (p.Asn839=) c.734A= (p.Asn245=) c.2324A= (p.Asn775=) c.2048A= (p.Asn683=) c.2312A= (p.Asn771=) c.2510A= (p.Asn837=) c.2915A= (p.Asn972=) | |
15 | g.22903881T>A | CA391334815 | CYFIP1 | c.2407A>T (p.Asn803Tyr) c.2413A>T (p.Asn805Tyr) c.1120A>T (p.Asn374Tyr) n.806A>T n.1560A>T c.2812A>T (p.Asn938Tyr) c.2515A>T (p.Asn839Tyr) c.733A>T (p.Asn245Tyr) c.2323A>T (p.Asn775Tyr) c.2047A>T (p.Asn683Tyr) c.2311A>T (p.Asn771Tyr) c.2509A>T (p.Asn837Tyr) c.2914A>T (p.Asn972Tyr) | |
15 | g.22903881T>C | CA391334816 | CYFIP1 | c.2407A>G (p.Asn803Asp) c.2413A>G (p.Asn805Asp) c.1120A>G (p.Asn374Asp) n.806A>G n.1560A>G c.2812A>G (p.Asn938Asp) c.2515A>G (p.Asn839Asp) c.733A>G (p.Asn245Asp) c.2323A>G (p.Asn775Asp) c.2047A>G (p.Asn683Asp) c.2311A>G (p.Asn771Asp) c.2509A>G (p.Asn837Asp) c.2914A>G (p.Asn972Asp) | |
15 | g.22903881T>G | CA391334818 | CYFIP1 | c.2407A>C (p.Asn803His) c.2413A>C (p.Asn805His) c.1120A>C (p.Asn374His) n.806A>C n.1560A>C c.2812A>C (p.Asn938His) c.2515A>C (p.Asn839His) c.733A>C (p.Asn245His) c.2323A>C (p.Asn775His) c.2047A>C (p.Asn683His) c.2311A>C (p.Asn771His) c.2509A>C (p.Asn837His) c.2914A>C (p.Asn972His) | |
15 | g.22903882G>A | CA488526514 | CYFIP1 | c.2406C>T (p.Ile802=) c.2412C>T (p.Ile804=) c.1119C>T (p.Ile373=) n.805C>T n.1559C>T c.2811C>T (p.Ile937=) c.2514C>T (p.Ile838=) c.732C>T (p.Ile244=) c.2322C>T (p.Ile774=) c.2046C>T (p.Ile682=) c.2310C>T (p.Ile770=) c.2508C>T (p.Ile836=) c.2913C>T (p.Ile971=) | |
15 | g.22903882G>C | CA391334820 | CYFIP1 | c.2406C>G (p.Ile802Met) c.2412C>G (p.Ile804Met) c.1119C>G (p.Ile373Met) n.805C>G n.1559C>G c.2811C>G (p.Ile937Met) c.2514C>G (p.Ile838Met) c.732C>G (p.Ile244Met) c.2322C>G (p.Ile774Met) c.2046C>G (p.Ile682Met) c.2310C>G (p.Ile770Met) c.2508C>G (p.Ile836Met) c.2913C>G (p.Ile971Met) | |
15 | g.22903882G>T | CA488526513 | CYFIP1 | c.2406C>A (p.Ile802=) c.2412C>A (p.Ile804=) c.1119C>A (p.Ile373=) n.805C>A n.1559C>A c.2811C>A (p.Ile937=) c.2514C>A (p.Ile838=) c.732C>A (p.Ile244=) c.2322C>A (p.Ile774=) c.2046C>A (p.Ile682=) c.2310C>A (p.Ile770=) c.2508C>A (p.Ile836=) c.2913C>A (p.Ile971=) | |
15 | g.22903883A>C | CA391334822 | CYFIP1 | c.2405T>G (p.Ile802Ser) c.2411T>G (p.Ile804Ser) c.1118T>G (p.Ile373Ser) n.804T>G n.1558T>G c.2810T>G (p.Ile937Ser) c.2513T>G (p.Ile838Ser) c.731T>G (p.Ile244Ser) c.2321T>G (p.Ile774Ser) c.2045T>G (p.Ile682Ser) c.2309T>G (p.Ile770Ser) c.2507T>G (p.Ile836Ser) c.2912T>G (p.Ile971Ser) | |
15 | g.22903883A>G | CA391334827 | CYFIP1 | c.2405T>C (p.Ile802Thr) c.2411T>C (p.Ile804Thr) c.1118T>C (p.Ile373Thr) n.804T>C n.1558T>C c.2810T>C (p.Ile937Thr) c.2513T>C (p.Ile838Thr) c.731T>C (p.Ile244Thr) c.2321T>C (p.Ile774Thr) c.2045T>C (p.Ile682Thr) c.2309T>C (p.Ile770Thr) c.2507T>C (p.Ile836Thr) c.2912T>C (p.Ile971Thr) | |
15 | g.22903883A>T | CA391334824 | CYFIP1 | c.2405T>A (p.Ile802Asn) c.2411T>A (p.Ile804Asn) c.1118T>A (p.Ile373Asn) n.804T>A n.1558T>A c.2810T>A (p.Ile937Asn) c.2513T>A (p.Ile838Asn) c.731T>A (p.Ile244Asn) c.2321T>A (p.Ile774Asn) c.2045T>A (p.Ile682Asn) c.2309T>A (p.Ile770Asn) c.2507T>A (p.Ile836Asn) c.2912T>A (p.Ile971Asn) | |
15 | g.22903884T>A | CA391334829 | CYFIP1 | c.2404A>T (p.Ile802Phe) c.2410A>T (p.Ile804Phe) c.1117A>T (p.Ile373Phe) n.803A>T n.1557A>T c.2809A>T (p.Ile937Phe) c.2512A>T (p.Ile838Phe) c.730A>T (p.Ile244Phe) c.2320A>T (p.Ile774Phe) c.2044A>T (p.Ile682Phe) c.2308A>T (p.Ile770Phe) c.2506A>T (p.Ile836Phe) c.2911A>T (p.Ile971Phe) | |
15 | g.22903884T>C | CA391334831 | CYFIP1 | c.2404A>G (p.Ile802Val) c.2410A>G (p.Ile804Val) c.1117A>G (p.Ile373Val) n.803A>G n.1557A>G c.2809A>G (p.Ile937Val) c.2512A>G (p.Ile838Val) c.730A>G (p.Ile244Val) c.2320A>G (p.Ile774Val) c.2044A>G (p.Ile682Val) c.2308A>G (p.Ile770Val) c.2506A>G (p.Ile836Val) c.2911A>G (p.Ile971Val) | dbSNP gnomAD v4 |
15 | g.22903884T>G | CA391334832 | CYFIP1 | c.2404A>C (p.Ile802Leu) c.2410A>C (p.Ile804Leu) c.1117A>C (p.Ile373Leu) n.803A>C n.1557A>C c.2809A>C (p.Ile937Leu) c.2512A>C (p.Ile838Leu) c.730A>C (p.Ile244Leu) c.2320A>C (p.Ile774Leu) c.2044A>C (p.Ile682Leu) c.2308A>C (p.Ile770Leu) c.2506A>C (p.Ile836Leu) c.2911A>C (p.Ile971Leu) | |
15 | g.22903884T= | CA2163978159 | CYFIP1 | c.2404A= (p.Ile802=) c.2410A= (p.Ile804=) c.1117A= (p.Ile373=) n.803A= n.1557A= c.2809A= (p.Ile937=) c.2512A= (p.Ile838=) c.730A= (p.Ile244=) c.2320A= (p.Ile774=) c.2044A= (p.Ile682=) c.2308A= (p.Ile770=) c.2506A= (p.Ile836=) c.2911A= (p.Ile971=) | |
15 | g.22903885T>A | CA391334834 | CYFIP1 | c.2403A>T (p.Glu801Asp) c.2409A>T (p.Glu803Asp) c.1116A>T (p.Glu372Asp) n.802A>T n.1556A>T c.2808A>T (p.Glu936Asp) c.2511A>T (p.Glu837Asp) c.729A>T (p.Glu243Asp) c.2319A>T (p.Glu773Asp) c.2043A>T (p.Glu681Asp) c.2307A>T (p.Glu769Asp) c.2505A>T (p.Glu835Asp) c.2910A>T (p.Glu970Asp) | |
15 | g.22903885T>C | CA488526515 | CYFIP1 | c.2403A>G (p.Glu801=) c.2409A>G (p.Glu803=) c.1116A>G (p.Glu372=) n.802A>G n.1556A>G c.2808A>G (p.Glu936=) c.2511A>G (p.Glu837=) c.729A>G (p.Glu243=) c.2319A>G (p.Glu773=) c.2043A>G (p.Glu681=) c.2307A>G (p.Glu769=) c.2505A>G (p.Glu835=) c.2910A>G (p.Glu970=) | |
15 | g.22903885T>G | CA391334836 | CYFIP1 | c.2403A>C (p.Glu801Asp) c.2409A>C (p.Glu803Asp) c.1116A>C (p.Glu372Asp) n.802A>C n.1556A>C c.2808A>C (p.Glu936Asp) c.2511A>C (p.Glu837Asp) c.729A>C (p.Glu243Asp) c.2319A>C (p.Glu773Asp) c.2043A>C (p.Glu681Asp) c.2307A>C (p.Glu769Asp) c.2505A>C (p.Glu835Asp) c.2910A>C (p.Glu970Asp) | |
15 | g.22903886T>A | CA391334838 | CYFIP1 | c.2402A>T (p.Glu801Val) c.2408A>T (p.Glu803Val) c.1115A>T (p.Glu372Val) n.801A>T n.1555A>T c.2807A>T (p.Glu936Val) c.2510A>T (p.Glu837Val) c.728A>T (p.Glu243Val) c.2318A>T (p.Glu773Val) c.2042A>T (p.Glu681Val) c.2306A>T (p.Glu769Val) c.2504A>T (p.Glu835Val) c.2909A>T (p.Glu970Val) | |
15 | g.22903886T>C | CA391334840 | CYFIP1 | c.2402A>G (p.Glu801Gly) c.2408A>G (p.Glu803Gly) c.1115A>G (p.Glu372Gly) n.801A>G n.1555A>G c.2807A>G (p.Glu936Gly) c.2510A>G (p.Glu837Gly) c.728A>G (p.Glu243Gly) c.2318A>G (p.Glu773Gly) c.2042A>G (p.Glu681Gly) c.2306A>G (p.Glu769Gly) c.2504A>G (p.Glu835Gly) c.2909A>G (p.Glu970Gly) | |
15 | g.22903886T>G | CA391334842 | CYFIP1 | c.2402A>C (p.Glu801Ala) c.2408A>C (p.Glu803Ala) c.1115A>C (p.Glu372Ala) n.801A>C n.1555A>C c.2807A>C (p.Glu936Ala) c.2510A>C (p.Glu837Ala) c.728A>C (p.Glu243Ala) c.2318A>C (p.Glu773Ala) c.2042A>C (p.Glu681Ala) c.2306A>C (p.Glu769Ala) c.2504A>C (p.Glu835Ala) c.2909A>C (p.Glu970Ala) | |
15 | g.22903887C>A | CA391334844 | CYFIP1 | c.2401G>T (p.Glu801Ter) c.2407G>T (p.Glu803Ter) c.1114G>T (p.Glu372Ter) n.800G>T n.1554G>T c.2806G>T (p.Glu936Ter) c.2509G>T (p.Glu837Ter) c.727G>T (p.Glu243Ter) c.2317G>T (p.Glu773Ter) c.2041G>T (p.Glu681Ter) c.2305G>T (p.Glu769Ter) c.2503G>T (p.Glu835Ter) c.2908G>T (p.Glu970Ter) | |
15 | g.22903887C= | CA2163978163 | CYFIP1 | c.2401G= (p.Glu801=) c.2407G= (p.Glu803=) c.1114G= (p.Glu372=) n.800G= n.1554G= c.2806G= (p.Glu936=) c.2509G= (p.Glu837=) c.727G= (p.Glu243=) c.2317G= (p.Glu773=) c.2041G= (p.Glu681=) c.2305G= (p.Glu769=) c.2503G= (p.Glu835=) c.2908G= (p.Glu970=) | |
15 | g.22903887C>G | CA391334845 | CYFIP1 | c.2401G>C (p.Glu801Gln) c.2407G>C (p.Glu803Gln) c.1114G>C (p.Glu372Gln) n.800G>C n.1554G>C c.2806G>C (p.Glu936Gln) c.2509G>C (p.Glu837Gln) c.727G>C (p.Glu243Gln) c.2317G>C (p.Glu773Gln) c.2041G>C (p.Glu681Gln) c.2305G>C (p.Glu769Gln) c.2503G>C (p.Glu835Gln) c.2908G>C (p.Glu970Gln) | |
15 | g.22903887C>T | CA391334847 | CYFIP1 | c.2401G>A (p.Glu801Lys) c.2407G>A (p.Glu803Lys) c.1114G>A (p.Glu372Lys) n.800G>A n.1554G>A c.2806G>A (p.Glu936Lys) c.2509G>A (p.Glu837Lys) c.727G>A (p.Glu243Lys) c.2317G>A (p.Glu773Lys) c.2041G>A (p.Glu681Lys) c.2305G>A (p.Glu769Lys) c.2503G>A (p.Glu835Lys) c.2908G>A (p.Glu970Lys) | dbSNP gnomAD v4 |
15 | g.22903888C>A | CA391334849 | CYFIP1 | c.2400G>T (p.Leu800Phe) c.2406G>T (p.Leu802Phe) c.1113G>T (p.Leu371Phe) n.799G>T n.1553G>T c.2805G>T (p.Leu935Phe) c.2508G>T (p.Leu836Phe) c.726G>T (p.Leu242Phe) c.2316G>T (p.Leu772Phe) c.2040G>T (p.Leu680Phe) c.2304G>T (p.Leu768Phe) c.2502G>T (p.Leu834Phe) c.2907G>T (p.Leu969Phe) | |
15 | g.22903888C>G | CA391334851 | CYFIP1 | c.2400G>C (p.Leu800Phe) c.2406G>C (p.Leu802Phe) c.1113G>C (p.Leu371Phe) n.799G>C n.1553G>C c.2805G>C (p.Leu935Phe) c.2508G>C (p.Leu836Phe) c.726G>C (p.Leu242Phe) c.2316G>C (p.Leu772Phe) c.2040G>C (p.Leu680Phe) c.2304G>C (p.Leu768Phe) c.2502G>C (p.Leu834Phe) c.2907G>C (p.Leu969Phe) | |
15 | g.22903888C>T | CA488526516 | CYFIP1 | c.2400G>A (p.Leu800=) c.2406G>A (p.Leu802=) c.1113G>A (p.Leu371=) n.799G>A n.1553G>A c.2805G>A (p.Leu935=) c.2508G>A (p.Leu836=) c.726G>A (p.Leu242=) c.2316G>A (p.Leu772=) c.2040G>A (p.Leu680=) c.2304G>A (p.Leu768=) c.2502G>A (p.Leu834=) c.2907G>A (p.Leu969=) | |
15 | g.22903889A>C | CA391334853 | CYFIP1 | c.2399T>G (p.Leu800Trp) c.2405T>G (p.Leu802Trp) c.1112T>G (p.Leu371Trp) n.798T>G n.1552T>G c.2804T>G (p.Leu935Trp) c.2507T>G (p.Leu836Trp) c.725T>G (p.Leu242Trp) c.2315T>G (p.Leu772Trp) c.2039T>G (p.Leu680Trp) c.2303T>G (p.Leu768Trp) c.2501T>G (p.Leu834Trp) c.2906T>G (p.Leu969Trp) | |
15 | g.22903889A>G | CA391334857 | CYFIP1 | c.2399T>C (p.Leu800Ser) c.2405T>C (p.Leu802Ser) c.1112T>C (p.Leu371Ser) n.798T>C n.1552T>C c.2804T>C (p.Leu935Ser) c.2507T>C (p.Leu836Ser) c.725T>C (p.Leu242Ser) c.2315T>C (p.Leu772Ser) c.2039T>C (p.Leu680Ser) c.2303T>C (p.Leu768Ser) c.2501T>C (p.Leu834Ser) c.2906T>C (p.Leu969Ser) | |
15 | g.22903889A>T | CA391334855 | CYFIP1 | c.2399T>A (p.Leu800Ter) c.2405T>A (p.Leu802Ter) c.1112T>A (p.Leu371Ter) n.798T>A n.1552T>A c.2804T>A (p.Leu935Ter) c.2507T>A (p.Leu836Ter) c.725T>A (p.Leu242Ter) c.2315T>A (p.Leu772Ter) c.2039T>A (p.Leu680Ter) c.2303T>A (p.Leu768Ter) c.2501T>A (p.Leu834Ter) c.2906T>A (p.Leu969Ter) | |
15 | g.22903890A>C | CA391334858 | CYFIP1 | c.2398T>G (p.Leu800Val) c.2404T>G (p.Leu802Val) c.1111T>G (p.Leu371Val) n.797T>G n.1551T>G c.2803T>G (p.Leu935Val) c.2506T>G (p.Leu836Val) c.724T>G (p.Leu242Val) c.2314T>G (p.Leu772Val) c.2038T>G (p.Leu680Val) c.2302T>G (p.Leu768Val) c.2500T>G (p.Leu834Val) c.2905T>G (p.Leu969Val) | |
15 | g.22903890A>G | CA488526517 | CYFIP1 | c.2398T>C (p.Leu800=) c.2404T>C (p.Leu802=) c.1111T>C (p.Leu371=) n.797T>C n.1551T>C c.2803T>C (p.Leu935=) c.2506T>C (p.Leu836=) c.724T>C (p.Leu242=) c.2314T>C (p.Leu772=) c.2038T>C (p.Leu680=) c.2302T>C (p.Leu768=) c.2500T>C (p.Leu834=) c.2905T>C (p.Leu969=) | |
15 | g.22903890A>T | CA391334859 | CYFIP1 | c.2398T>A (p.Leu800Met) c.2404T>A (p.Leu802Met) c.1111T>A (p.Leu371Met) n.797T>A n.1551T>A c.2803T>A (p.Leu935Met) c.2506T>A (p.Leu836Met) c.724T>A (p.Leu242Met) c.2314T>A (p.Leu772Met) c.2038T>A (p.Leu680Met) c.2302T>A (p.Leu768Met) c.2500T>A (p.Leu834Met) c.2905T>A (p.Leu969Met) | |
15 | g.22903891C>A | CA488526518 | CYFIP1 | c.2397G>T (p.Leu799=) c.2403G>T (p.Leu801=) c.1110G>T (p.Leu370=) n.796G>T n.1550G>T c.2802G>T (p.Leu934=) c.2505G>T (p.Leu835=) c.723G>T (p.Leu241=) c.2313G>T (p.Leu771=) c.2037G>T (p.Leu679=) c.2301G>T (p.Leu767=) c.2499G>T (p.Leu833=) c.2904G>T (p.Leu968=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22903891C= | CA2163978166 | CYFIP1 | c.2397G= (p.Leu799=) c.2403G= (p.Leu801=) c.1110G= (p.Leu370=) n.796G= n.1550G= c.2802G= (p.Leu934=) c.2505G= (p.Leu835=) c.723G= (p.Leu241=) c.2313G= (p.Leu771=) c.2037G= (p.Leu679=) c.2301G= (p.Leu767=) c.2499G= (p.Leu833=) c.2904G= (p.Leu968=) | |
15 | g.22903891C>G | CA488526519 | CYFIP1 | c.2397G>C (p.Leu799=) c.2403G>C (p.Leu801=) c.1110G>C (p.Leu370=) n.796G>C n.1550G>C c.2802G>C (p.Leu934=) c.2505G>C (p.Leu835=) c.723G>C (p.Leu241=) c.2313G>C (p.Leu771=) c.2037G>C (p.Leu679=) c.2301G>C (p.Leu767=) c.2499G>C (p.Leu833=) c.2904G>C (p.Leu968=) | |
15 | g.22903891C>T | CA488526520 | CYFIP1 | c.2397G>A (p.Leu799=) c.2403G>A (p.Leu801=) c.1110G>A (p.Leu370=) n.796G>A n.1550G>A c.2802G>A (p.Leu934=) c.2505G>A (p.Leu835=) c.723G>A (p.Leu241=) c.2313G>A (p.Leu771=) c.2037G>A (p.Leu679=) c.2301G>A (p.Leu767=) c.2499G>A (p.Leu833=) c.2904G>A (p.Leu968=) | |
15 | g.22903892A>C | CA391334862 | CYFIP1 | c.2396T>G (p.Leu799Arg) c.2402T>G (p.Leu801Arg) c.1109T>G (p.Leu370Arg) n.795T>G n.1549T>G c.2801T>G (p.Leu934Arg) c.2504T>G (p.Leu835Arg) c.722T>G (p.Leu241Arg) c.2312T>G (p.Leu771Arg) c.2036T>G (p.Leu679Arg) c.2300T>G (p.Leu767Arg) c.2498T>G (p.Leu833Arg) c.2903T>G (p.Leu968Arg) | |
15 | g.22903892A>G | CA391334863 | CYFIP1 | c.2396T>C (p.Leu799Pro) c.2402T>C (p.Leu801Pro) c.1109T>C (p.Leu370Pro) n.795T>C n.1549T>C c.2801T>C (p.Leu934Pro) c.2504T>C (p.Leu835Pro) c.722T>C (p.Leu241Pro) c.2312T>C (p.Leu771Pro) c.2036T>C (p.Leu679Pro) c.2300T>C (p.Leu767Pro) c.2498T>C (p.Leu833Pro) c.2903T>C (p.Leu968Pro) | |
15 | g.22903892A>T | CA391334865 | CYFIP1 | c.2396T>A (p.Leu799Gln) c.2402T>A (p.Leu801Gln) c.1109T>A (p.Leu370Gln) n.795T>A n.1549T>A c.2801T>A (p.Leu934Gln) c.2504T>A (p.Leu835Gln) c.722T>A (p.Leu241Gln) c.2312T>A (p.Leu771Gln) c.2036T>A (p.Leu679Gln) c.2300T>A (p.Leu767Gln) c.2498T>A (p.Leu833Gln) c.2903T>A (p.Leu968Gln) | |
15 | g.22903893G>A | CA488526521 | CYFIP1 | c.2395C>T (p.Leu799=) c.2401C>T (p.Leu801=) c.1108C>T (p.Leu370=) n.794C>T n.1548C>T c.2800C>T (p.Leu934=) c.2503C>T (p.Leu835=) c.721C>T (p.Leu241=) c.2311C>T (p.Leu771=) c.2035C>T (p.Leu679=) c.2299C>T (p.Leu767=) c.2497C>T (p.Leu833=) c.2902C>T (p.Leu968=) | dbSNP gnomAD v2 |
15 | g.22903893G>C | CA391334867 | CYFIP1 | c.2395C>G (p.Leu799Val) c.2401C>G (p.Leu801Val) c.1108C>G (p.Leu370Val) n.794C>G n.1548C>G c.2800C>G (p.Leu934Val) c.2503C>G (p.Leu835Val) c.721C>G (p.Leu241Val) c.2311C>G (p.Leu771Val) c.2035C>G (p.Leu679Val) c.2299C>G (p.Leu767Val) c.2497C>G (p.Leu833Val) c.2902C>G (p.Leu968Val) | |
15 | g.22903893G= | CA2163978169 | CYFIP1 | c.2395C= (p.Leu799=) c.2401C= (p.Leu801=) c.1108C= (p.Leu370=) n.794C= n.1548C= c.2800C= (p.Leu934=) c.2503C= (p.Leu835=) c.721C= (p.Leu241=) c.2311C= (p.Leu771=) c.2035C= (p.Leu679=) c.2299C= (p.Leu767=) c.2497C= (p.Leu833=) c.2902C= (p.Leu968=) | |
15 | g.22903893G>T | CA391334869 | CYFIP1 | c.2395C>A (p.Leu799Met) c.2401C>A (p.Leu801Met) c.1108C>A (p.Leu370Met) n.794C>A n.1548C>A c.2800C>A (p.Leu934Met) c.2503C>A (p.Leu835Met) c.721C>A (p.Leu241Met) c.2311C>A (p.Leu771Met) c.2035C>A (p.Leu679Met) c.2299C>A (p.Leu767Met) c.2497C>A (p.Leu833Met) c.2902C>A (p.Leu968Met) | |
15 | g.22903894G>A | CA488526524 | CYFIP1 | c.2394C>T (p.Gly798=) c.2400C>T (p.Gly800=) c.1107C>T (p.Gly369=) n.793C>T n.1547C>T c.2799C>T (p.Gly933=) c.2502C>T (p.Gly834=) c.720C>T (p.Gly240=) c.2310C>T (p.Gly770=) c.2034C>T (p.Gly678=) c.2298C>T (p.Gly766=) c.2496C>T (p.Gly832=) c.2901C>T (p.Gly967=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22903894G>C | CA488526522 | CYFIP1 | c.2394C>G (p.Gly798=) c.2400C>G (p.Gly800=) c.1107C>G (p.Gly369=) n.793C>G n.1547C>G c.2799C>G (p.Gly933=) c.2502C>G (p.Gly834=) c.720C>G (p.Gly240=) c.2310C>G (p.Gly770=) c.2034C>G (p.Gly678=) c.2298C>G (p.Gly766=) c.2496C>G (p.Gly832=) c.2901C>G (p.Gly967=) | |
15 | g.22903894G= | CA2163978171 | CYFIP1 | c.2394C= (p.Gly798=) c.2400C= (p.Gly800=) c.1107C= (p.Gly369=) n.793C= n.1547C= c.2799C= (p.Gly933=) c.2502C= (p.Gly834=) c.720C= (p.Gly240=) c.2310C= (p.Gly770=) c.2034C= (p.Gly678=) c.2298C= (p.Gly766=) c.2496C= (p.Gly832=) c.2901C= (p.Gly967=) | |
15 | g.22903894G>T | CA488526523 | CYFIP1 | c.2394C>A (p.Gly798=) c.2400C>A (p.Gly800=) c.1107C>A (p.Gly369=) n.793C>A n.1547C>A c.2799C>A (p.Gly933=) c.2502C>A (p.Gly834=) c.720C>A (p.Gly240=) c.2310C>A (p.Gly770=) c.2034C>A (p.Gly678=) c.2298C>A (p.Gly766=) c.2496C>A (p.Gly832=) c.2901C>A (p.Gly967=) | |
15 | g.22903895C>A | CA391334870 | CYFIP1 | c.2393G>T (p.Gly798Val) c.2399G>T (p.Gly800Val) c.1106G>T (p.Gly369Val) n.792G>T n.1546G>T c.2798G>T (p.Gly933Val) c.2501G>T (p.Gly834Val) c.719G>T (p.Gly240Val) c.2309G>T (p.Gly770Val) c.2033G>T (p.Gly678Val) c.2297G>T (p.Gly766Val) c.2495G>T (p.Gly832Val) c.2900G>T (p.Gly967Val) | |
15 | g.22903895C>G | CA391334872 | CYFIP1 | c.2393G>C (p.Gly798Ala) c.2399G>C (p.Gly800Ala) c.1106G>C (p.Gly369Ala) n.792G>C n.1546G>C c.2798G>C (p.Gly933Ala) c.2501G>C (p.Gly834Ala) c.719G>C (p.Gly240Ala) c.2309G>C (p.Gly770Ala) c.2033G>C (p.Gly678Ala) c.2297G>C (p.Gly766Ala) c.2495G>C (p.Gly832Ala) c.2900G>C (p.Gly967Ala) | |
15 | g.22903895C>T | CA391334874 | CYFIP1 | c.2393G>A (p.Gly798Asp) c.2399G>A (p.Gly800Asp) c.1106G>A (p.Gly369Asp) n.792G>A n.1546G>A c.2798G>A (p.Gly933Asp) c.2501G>A (p.Gly834Asp) c.719G>A (p.Gly240Asp) c.2309G>A (p.Gly770Asp) c.2033G>A (p.Gly678Asp) c.2297G>A (p.Gly766Asp) c.2495G>A (p.Gly832Asp) c.2900G>A (p.Gly967Asp) | gnomAD v4 |
15 | g.22903896C>A | CA391334876 | CYFIP1 | c.2392G>T (p.Gly798Cys) c.2398G>T (p.Gly800Cys) c.1105G>T (p.Gly369Cys) n.791G>T n.1545G>T c.2797G>T (p.Gly933Cys) c.2500G>T (p.Gly834Cys) c.718G>T (p.Gly240Cys) c.2308G>T (p.Gly770Cys) c.2032G>T (p.Gly678Cys) c.2296G>T (p.Gly766Cys) c.2494G>T (p.Gly832Cys) c.2899G>T (p.Gly967Cys) | |
15 | g.22903896C= | CA2163978174 | CYFIP1 | c.2392G= (p.Gly798=) c.2398G= (p.Gly800=) c.1105G= (p.Gly369=) n.791G= n.1545G= c.2797G= (p.Gly933=) c.2500G= (p.Gly834=) c.718G= (p.Gly240=) c.2308G= (p.Gly770=) c.2032G= (p.Gly678=) c.2296G= (p.Gly766=) c.2494G= (p.Gly832=) c.2899G= (p.Gly967=) | |
15 | g.22903896C>G | CA391334879 | CYFIP1 | c.2392G>C (p.Gly798Arg) c.2398G>C (p.Gly800Arg) c.1105G>C (p.Gly369Arg) n.791G>C n.1545G>C c.2797G>C (p.Gly933Arg) c.2500G>C (p.Gly834Arg) c.718G>C (p.Gly240Arg) c.2308G>C (p.Gly770Arg) c.2032G>C (p.Gly678Arg) c.2296G>C (p.Gly766Arg) c.2494G>C (p.Gly832Arg) c.2899G>C (p.Gly967Arg) | |
15 | g.22903896C>T | CA267616651 | CYFIP1 | c.2392G>A (p.Gly798Ser) c.2398G>A (p.Gly800Ser) c.1105G>A (p.Gly369Ser) n.791G>A n.1545G>A c.2797G>A (p.Gly933Ser) c.2500G>A (p.Gly834Ser) c.718G>A (p.Gly240Ser) c.2308G>A (p.Gly770Ser) c.2032G>A (p.Gly678Ser) c.2296G>A (p.Gly766Ser) c.2494G>A (p.Gly832Ser) c.2899G>A (p.Gly967Ser) | dbSNP gnomAD v4 |
15 | g.22903897A= | CA2163978177 | CYFIP1 | c.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=) | |
15 | g.22903897A>C | CA391334880 | CYFIP1 | c.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) | |
15 | g.22903897A>G | CA488526525 | CYFIP1 | c.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 |
15 | g.22903897A>T | CA391334882 | CYFIP1 | c.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) | |
15 | g.22903898T>A | CA391334883 | CYFIP1 | c.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) | |
15 | g.22903898T>C | CA391334886 | CYFIP1 | c.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) | |
15 | g.22903898T>G | CA391334887 | CYFIP1 | c.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) | |
15 | g.22903899C>A | CA391334889 | CYFIP1 | c.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) | |
15 | g.22903899C= | CA2163978180 | CYFIP1 | c.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=) | |
15 | g.22903899C>G | CA391334890 | CYFIP1 | c.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 |
15 | g.22903899C>T | CA391334892 | CYFIP1 | c.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 |
15 | g.22903900C>A | CA488526526 | CYFIP1 | c.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=) | |
15 | g.22903900C= | CA2163978182 | CYFIP1 | c.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=) | |
15 | g.22903900C>G | CA488526527 | CYFIP1 | c.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=) | |
15 | g.22903900C>T | CA488526528 | CYFIP1 | c.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 |
15 | g.22903901A>C | CA391334894 | CYFIP1 | c.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) | |
15 | g.22903901A>G | CA391334896 | CYFIP1 | c.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) | |
15 | g.22903901A>T | CA391334897 | CYFIP1 | c.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) | |
15 | g.22903902G>A | CA488526529 | CYFIP1 | c.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 |
15 | g.22903902G>C | CA391334898 | CYFIP1 | c.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) | |
15 | g.22903902G= | CA2163978184 | CYFIP1 | c.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=) | |
15 | g.22903902G>T | CA391334900 | CYFIP1 | c.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) | |
15 | g.22903903C>A | CA391334903 | CYFIP1 | c.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) | |
15 | g.22903903C= | CA2163978187 | CYFIP1 | c.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=) | |
15 | g.22903903C>G | CA391334901 | CYFIP1 | c.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) | |
15 | g.22903903C>T | CA267616653 | CYFIP1 | c.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 |
15 | g.22903904T>A | CA391334904 | CYFIP1 | c.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 |
15 | g.22903904T>C | CA391334908 | CYFIP1 | c.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) | |
15 | g.22903904T>G | CA391334906 | CYFIP1 | c.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) | |
15 | g.22903905C>A | CA391334909 | CYFIP1 | c.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) | |
15 | g.22903905C>G | CA391334910 | CYFIP1 | c.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) | |
15 | g.22903905C>T | CA391334912 | CYFIP1 | c.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 |
15 | g.22903906C>A | CA391334915 | CYFIP1 | c.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) | |
15 | g.22903906C= | CA2163978189 | CYFIP1 | c.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=) | |
15 | g.22903906C>G | CA391334916 | CYFIP1 | c.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) | |
15 | g.22903906C>T | CA391334918 | CYFIP1 | c.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 |
15 | g.22903907T>A | CA391334921 | CYFIP1 | c.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) | |
15 | g.22903907T>C | CA391334922 | CYFIP1 | c.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 |
15 | g.22903907T>G | CA391334923 | CYFIP1 | c.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) | |
15 | g.22903907T= | CA2163978193 | CYFIP1 | c.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=) | |
15 | g.22903908G>A | CA7425089 | CYFIP1 | c.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 |
15 | g.22903908G>C | CA7425090 | CYFIP1 | c.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 |
15 | g.22903908G= | CA2163978196 | CYFIP1 | c.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=) | |
15 | g.22903909T>C | CA2627257803 | CYFIP1 | c.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 |
15 | g.22903909T>G | CA967617339 | CYFIP1 | c.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 |
15 | g.22903909T= | CA2163978199 | CYFIP1 | c.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=) | |
15 | g.22903910G>A | CA2575648568 | CYFIP1 | c.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 |
15 | g.22903911G>A | CA2163978203 | CYFIP1 | c.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 |
15 | g.22903911G= | CA2163978201 | CYFIP1 | c.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=) | |
15 | g.22903912C>T | CA2575648569 | CYFIP1 | c.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 |
15 | g.22903914_22903916dup | CA7425085 | CYFIP1 | c.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 |
15 | g.22903913A>C | CA2627257804 | CYFIP1 | c.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 |
15 | g.22903914C>A | CA7425088 | CYFIP1 | c.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 |
15 | g.22903914C= | CA2163978206 | CYFIP1 | c.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=) | |
15 | g.22903914C>G | CA7425086 | CYFIP1 | c.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 |
15 | g.22903914C>T | CA7425087 | CYFIP1 | c.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 |
15 | g.22903915C>T | CA2575648570 | CYFIP1 | c.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) | |
15 | g.22903916A= | CA2163978207 | CYFIP1 | c.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=) | |
15 | g.22903916A>C | CA2730305521 | CYFIP1 | c.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 |
15 | g.22903916A>G | CA2163978208 | CYFIP1 | c.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 |
15 | g.22903918A= | CA2163978209 | CYFIP1 | c.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=) | |
15 | g.22903918A>G | CA2163978210 | CYFIP1 | c.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 |
15 | g.22903918A>T | CA617083416 | CYFIP1 | c.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 |
15 | g.22903919G>A | CA711270235 | CYFIP1 | c.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 |
15 | g.22903919G>C | CA2803371902 | CYFIP1 | c.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) | |
15 | g.22903919G= | CA2163978211 | CYFIP1 | c.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=) | |
15 | g.22903921_22903922delinsCA | CA2163978213 | CYFIP1 | c.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) | |
15 | g.22903921_22903923delinsCAG | CA2163978212 | CYFIP1 | c.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) | |
15 | g.22903922del | CA711270239 | CYFIP1 | c.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 |
15 | g.22903922A= | CA2163978214 | CYFIP1 | c.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=) | |
15 | g.22903922A>G | CA7425084 | CYFIP1 | c.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 |
15 | g.22903922_22903923del | CA7425083 | CYFIP1 | c.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 |
15 | g.22903922_22903923delinsAG | CA2163978215 | CYFIP1 | c.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) |