Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.22903703C=CA2163977888CYFIP1c.2582+3G= (n.2582+3G=)
c.2588+3G= (n.2588+3G=)
c.1295+3G= (n.1295+3G=)
n.1735+3G=
c.2987+3G= (n.2987+3G=)
c.2690+3G= (n.2690+3G=)
c.908+3G= (n.908+3G=)
c.2498+3G= (n.2498+3G=)
c.2222+3G= (n.2222+3G=)
c.2486+3G= (n.2486+3G=)
c.2684+3G= (n.2684+3G=)
c.3089+3G= (n.3089+3G=)
15g.22903703C>TCA7425134CYFIP1c.2582+3G>A (n.2582+3G>A)
c.2588+3G>A (n.2588+3G>A)
c.1295+3G>A (n.1295+3G>A)
n.1735+3G>A
c.2987+3G>A (n.2987+3G>A)
c.2690+3G>A (n.2690+3G>A)
c.908+3G>A (n.908+3G>A)
c.2498+3G>A (n.2498+3G>A)
c.2222+3G>A (n.2222+3G>A)
c.2486+3G>A (n.2486+3G>A)
c.2684+3G>A (n.2684+3G>A)
c.3089+3G>A (n.3089+3G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903704A>CCA391334110CYFIP1c.2582+2T>G (n.2582+2T>G)
c.2588+2T>G (n.2588+2T>G)
c.1295+2T>G (n.1295+2T>G)
n.1735+2T>G
c.2987+2T>G (n.2987+2T>G)
c.2690+2T>G (n.2690+2T>G)
c.908+2T>G (n.908+2T>G)
c.2498+2T>G (n.2498+2T>G)
c.2222+2T>G (n.2222+2T>G)
c.2486+2T>G (n.2486+2T>G)
c.2684+2T>G (n.2684+2T>G)
c.3089+2T>G (n.3089+2T>G)
15g.22903704A>GCA391334112CYFIP1c.2582+2T>C (n.2582+2T>C)
c.2588+2T>C (n.2588+2T>C)
c.1295+2T>C (n.1295+2T>C)
n.1735+2T>C
c.2987+2T>C (n.2987+2T>C)
c.2690+2T>C (n.2690+2T>C)
c.908+2T>C (n.908+2T>C)
c.2498+2T>C (n.2498+2T>C)
c.2222+2T>C (n.2222+2T>C)
c.2486+2T>C (n.2486+2T>C)
c.2684+2T>C (n.2684+2T>C)
c.3089+2T>C (n.3089+2T>C)
15g.22903704A>TCA391334111CYFIP1c.2582+2T>A (n.2582+2T>A)
c.2588+2T>A (n.2588+2T>A)
c.1295+2T>A (n.1295+2T>A)
n.1735+2T>A
c.2987+2T>A (n.2987+2T>A)
c.2690+2T>A (n.2690+2T>A)
c.908+2T>A (n.908+2T>A)
c.2498+2T>A (n.2498+2T>A)
c.2222+2T>A (n.2222+2T>A)
c.2486+2T>A (n.2486+2T>A)
c.2684+2T>A (n.2684+2T>A)
c.3089+2T>A (n.3089+2T>A)
15g.22903705C>ACA391334113CYFIP1c.2582+1G>T (n.2582+1G>T)
c.2588+1G>T (n.2588+1G>T)
c.1295+1G>T (n.1295+1G>T)
n.1735+1G>T
c.2987+1G>T (n.2987+1G>T)
c.2690+1G>T (n.2690+1G>T)
c.908+1G>T (n.908+1G>T)
c.2498+1G>T (n.2498+1G>T)
c.2222+1G>T (n.2222+1G>T)
c.2486+1G>T (n.2486+1G>T)
c.2684+1G>T (n.2684+1G>T)
c.3089+1G>T (n.3089+1G>T)
15g.22903705C>GCA391334117CYFIP1c.2582+1G>C (n.2582+1G>C)
c.2588+1G>C (n.2588+1G>C)
c.1295+1G>C (n.1295+1G>C)
n.1735+1G>C
c.2987+1G>C (n.2987+1G>C)
c.2690+1G>C (n.2690+1G>C)
c.908+1G>C (n.908+1G>C)
c.2498+1G>C (n.2498+1G>C)
c.2222+1G>C (n.2222+1G>C)
c.2486+1G>C (n.2486+1G>C)
c.2684+1G>C (n.2684+1G>C)
c.3089+1G>C (n.3089+1G>C)
15g.22903705C>TCA391334115CYFIP1c.2582+1G>A (n.2582+1G>A)
c.2588+1G>A (n.2588+1G>A)
c.1295+1G>A (n.1295+1G>A)
n.1735+1G>A
c.2987+1G>A (n.2987+1G>A)
c.2690+1G>A (n.2690+1G>A)
c.908+1G>A (n.908+1G>A)
c.2498+1G>A (n.2498+1G>A)
c.2222+1G>A (n.2222+1G>A)
c.2486+1G>A (n.2486+1G>A)
c.2684+1G>A (n.2684+1G>A)
c.3089+1G>A (n.3089+1G>A)
15g.22903706C>ACA391334119CYFIP1c.2582G>T (p.Arg861Leu)
c.2588G>T (p.Arg863Leu)
c.1295G>T (p.Arg432Leu)
n.1735G>T
c.2987G>T (p.Arg996Leu)
c.2690G>T (p.Arg897Leu)
c.908G>T (p.Arg303Leu)
c.2498G>T (p.Arg833Leu)
c.2222G>T (p.Arg741Leu)
c.2486G>T (p.Arg829Leu)
c.2684G>T (p.Arg895Leu)
c.3089G>T (p.Arg1030Leu)
gnomAD v4
15g.22903706C=CA2163977891CYFIP1c.2582G= (p.Arg861=)
c.2588G= (p.Arg863=)
c.1295G= (p.Arg432=)
n.1735G=
c.2987G= (p.Arg996=)
c.2690G= (p.Arg897=)
c.908G= (p.Arg303=)
c.2498G= (p.Arg833=)
c.2222G= (p.Arg741=)
c.2486G= (p.Arg829=)
c.2684G= (p.Arg895=)
c.3089G= (p.Arg1030=)
15g.22903706C>GCA391334120CYFIP1c.2582G>C (p.Arg861Pro)
c.2588G>C (p.Arg863Pro)
c.1295G>C (p.Arg432Pro)
n.1735G>C
c.2987G>C (p.Arg996Pro)
c.2690G>C (p.Arg897Pro)
c.908G>C (p.Arg303Pro)
c.2498G>C (p.Arg833Pro)
c.2222G>C (p.Arg741Pro)
c.2486G>C (p.Arg829Pro)
c.2684G>C (p.Arg895Pro)
c.3089G>C (p.Arg1030Pro)
15g.22903706C>TCA7425133CYFIP1c.2582G>A (p.Arg861Gln)
c.2588G>A (p.Arg863Gln)
c.1295G>A (p.Arg432Gln)
n.1735G>A
c.2987G>A (p.Arg996Gln)
c.2690G>A (p.Arg897Gln)
c.908G>A (p.Arg303Gln)
c.2498G>A (p.Arg833Gln)
c.2222G>A (p.Arg741Gln)
c.2486G>A (p.Arg829Gln)
c.2684G>A (p.Arg895Gln)
c.3089G>A (p.Arg1030Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.22903707G>ACA267616314CYFIP1c.2581C>T (p.Arg861Trp)
c.2587C>T (p.Arg863Trp)
c.1294C>T (p.Arg432Trp)
n.1734C>T
c.2986C>T (p.Arg996Trp)
c.2689C>T (p.Arg897Trp)
c.907C>T (p.Arg303Trp)
c.2497C>T (p.Arg833Trp)
c.2221C>T (p.Arg741Trp)
c.2485C>T (p.Arg829Trp)
c.2683C>T (p.Arg895Trp)
c.3088C>T (p.Arg1030Trp)
dbSNP gnomAD v2 gnomAD v4
15g.22903707G>CCA391334124CYFIP1c.2581C>G (p.Arg861Gly)
c.2587C>G (p.Arg863Gly)
c.1294C>G (p.Arg432Gly)
n.1734C>G
c.2986C>G (p.Arg996Gly)
c.2689C>G (p.Arg897Gly)
c.907C>G (p.Arg303Gly)
c.2497C>G (p.Arg833Gly)
c.2221C>G (p.Arg741Gly)
c.2485C>G (p.Arg829Gly)
c.2683C>G (p.Arg895Gly)
c.3088C>G (p.Arg1030Gly)
gnomAD v4
15g.22903707G=CA2163977893CYFIP1c.2581C= (p.Arg861=)
c.2587C= (p.Arg863=)
c.1294C= (p.Arg432=)
n.1734C=
c.2986C= (p.Arg996=)
c.2689C= (p.Arg897=)
c.907C= (p.Arg303=)
c.2497C= (p.Arg833=)
c.2221C= (p.Arg741=)
c.2485C= (p.Arg829=)
c.2683C= (p.Arg895=)
c.3088C= (p.Arg1030=)
15g.22903707G>TCA488526416CYFIP1c.2581C>A (p.Arg861=)
c.2587C>A (p.Arg863=)
c.1294C>A (p.Arg432=)
n.1734C>A
c.2986C>A (p.Arg996=)
c.2689C>A (p.Arg897=)
c.907C>A (p.Arg303=)
c.2497C>A (p.Arg833=)
c.2221C>A (p.Arg741=)
c.2485C>A (p.Arg829=)
c.2683C>A (p.Arg895=)
c.3088C>A (p.Arg1030=)
15g.22903708G>ACA267616318CYFIP1c.2580C>T (p.Asn860=)
c.2586C>T (p.Asn862=)
c.1293C>T (p.Asn431=)
n.1733C>T
c.2985C>T (p.Asn995=)
c.2688C>T (p.Asn896=)
c.906C>T (p.Asn302=)
c.2496C>T (p.Asn832=)
c.2220C>T (p.Asn740=)
c.2484C>T (p.Asn828=)
c.2682C>T (p.Asn894=)
c.3087C>T (p.Asn1029=)
dbSNP gnomAD v2
15g.22903708G>CCA391334125CYFIP1c.2580C>G (p.Asn860Lys)
c.2586C>G (p.Asn862Lys)
c.1293C>G (p.Asn431Lys)
n.1733C>G
c.2985C>G (p.Asn995Lys)
c.2688C>G (p.Asn896Lys)
c.906C>G (p.Asn302Lys)
c.2496C>G (p.Asn832Lys)
c.2220C>G (p.Asn740Lys)
c.2484C>G (p.Asn828Lys)
c.2682C>G (p.Asn894Lys)
c.3087C>G (p.Asn1029Lys)
15g.22903708G=CA2163977895CYFIP1c.2580C= (p.Asn860=)
c.2586C= (p.Asn862=)
c.1293C= (p.Asn431=)
n.1733C=
c.2985C= (p.Asn995=)
c.2688C= (p.Asn896=)
c.906C= (p.Asn302=)
c.2496C= (p.Asn832=)
c.2220C= (p.Asn740=)
c.2484C= (p.Asn828=)
c.2682C= (p.Asn894=)
c.3087C= (p.Asn1029=)
15g.22903708G>TCA391334127CYFIP1c.2580C>A (p.Asn860Lys)
c.2586C>A (p.Asn862Lys)
c.1293C>A (p.Asn431Lys)
n.1733C>A
c.2985C>A (p.Asn995Lys)
c.2688C>A (p.Asn896Lys)
c.906C>A (p.Asn302Lys)
c.2496C>A (p.Asn832Lys)
c.2220C>A (p.Asn740Lys)
c.2484C>A (p.Asn828Lys)
c.2682C>A (p.Asn894Lys)
c.3087C>A (p.Asn1029Lys)
dbSNP gnomAD v2
15g.22903709T>ACA391334129CYFIP1c.2579A>T (p.Asn860Ile)
c.2585A>T (p.Asn862Ile)
c.1292A>T (p.Asn431Ile)
n.1732A>T
c.2984A>T (p.Asn995Ile)
c.2687A>T (p.Asn896Ile)
c.905A>T (p.Asn302Ile)
c.2495A>T (p.Asn832Ile)
c.2219A>T (p.Asn740Ile)
c.2483A>T (p.Asn828Ile)
c.2681A>T (p.Asn894Ile)
c.3086A>T (p.Asn1029Ile)
15g.22903709T>CCA391334130CYFIP1c.2579A>G (p.Asn860Ser)
c.2585A>G (p.Asn862Ser)
c.1292A>G (p.Asn431Ser)
n.1732A>G
c.2984A>G (p.Asn995Ser)
c.2687A>G (p.Asn896Ser)
c.905A>G (p.Asn302Ser)
c.2495A>G (p.Asn832Ser)
c.2219A>G (p.Asn740Ser)
c.2483A>G (p.Asn828Ser)
c.2681A>G (p.Asn894Ser)
c.3086A>G (p.Asn1029Ser)
15g.22903709T>GCA391334134CYFIP1c.2579A>C (p.Asn860Thr)
c.2585A>C (p.Asn862Thr)
c.1292A>C (p.Asn431Thr)
n.1732A>C
c.2984A>C (p.Asn995Thr)
c.2687A>C (p.Asn896Thr)
c.905A>C (p.Asn302Thr)
c.2495A>C (p.Asn832Thr)
c.2219A>C (p.Asn740Thr)
c.2483A>C (p.Asn828Thr)
c.2681A>C (p.Asn894Thr)
c.3086A>C (p.Asn1029Thr)
gnomAD v4
15g.22903710T>ACA391334135CYFIP1c.2578A>T (p.Asn860Tyr)
c.2584A>T (p.Asn862Tyr)
c.1291A>T (p.Asn431Tyr)
n.1731A>T
c.2983A>T (p.Asn995Tyr)
c.2686A>T (p.Asn896Tyr)
c.904A>T (p.Asn302Tyr)
c.2494A>T (p.Asn832Tyr)
c.2218A>T (p.Asn740Tyr)
c.2482A>T (p.Asn828Tyr)
c.2680A>T (p.Asn894Tyr)
c.3085A>T (p.Asn1029Tyr)
15g.22903710T>CCA391334136CYFIP1c.2578A>G (p.Asn860Asp)
c.2584A>G (p.Asn862Asp)
c.1291A>G (p.Asn431Asp)
n.1731A>G
c.2983A>G (p.Asn995Asp)
c.2686A>G (p.Asn896Asp)
c.904A>G (p.Asn302Asp)
c.2494A>G (p.Asn832Asp)
c.2218A>G (p.Asn740Asp)
c.2482A>G (p.Asn828Asp)
c.2680A>G (p.Asn894Asp)
c.3085A>G (p.Asn1029Asp)
15g.22903710T>GCA391334139CYFIP1c.2578A>C (p.Asn860His)
c.2584A>C (p.Asn862His)
c.1291A>C (p.Asn431His)
n.1731A>C
c.2983A>C (p.Asn995His)
c.2686A>C (p.Asn896His)
c.904A>C (p.Asn302His)
c.2494A>C (p.Asn832His)
c.2218A>C (p.Asn740His)
c.2482A>C (p.Asn828His)
c.2680A>C (p.Asn894His)
c.3085A>C (p.Asn1029His)
15g.22903711G>ACA488526418CYFIP1c.2577C>T (p.Thr859=)
c.2583C>T (p.Thr861=)
c.1290C>T (p.Thr430=)
n.1730C>T
c.2982C>T (p.Thr994=)
c.2685C>T (p.Thr895=)
c.903C>T (p.Thr301=)
c.2493C>T (p.Thr831=)
c.2217C>T (p.Thr739=)
c.2481C>T (p.Thr827=)
c.2679C>T (p.Thr893=)
c.3084C>T (p.Thr1028=)
gnomAD v4
15g.22903711G>CCA488526419CYFIP1c.2577C>G (p.Thr859=)
c.2583C>G (p.Thr861=)
c.1290C>G (p.Thr430=)
n.1730C>G
c.2982C>G (p.Thr994=)
c.2685C>G (p.Thr895=)
c.903C>G (p.Thr301=)
c.2493C>G (p.Thr831=)
c.2217C>G (p.Thr739=)
c.2481C>G (p.Thr827=)
c.2679C>G (p.Thr893=)
c.3084C>G (p.Thr1028=)
15g.22903711G>TCA488526417CYFIP1c.2577C>A (p.Thr859=)
c.2583C>A (p.Thr861=)
c.1290C>A (p.Thr430=)
n.1730C>A
c.2982C>A (p.Thr994=)
c.2685C>A (p.Thr895=)
c.903C>A (p.Thr301=)
c.2493C>A (p.Thr831=)
c.2217C>A (p.Thr739=)
c.2481C>A (p.Thr827=)
c.2679C>A (p.Thr893=)
c.3084C>A (p.Thr1028=)
gnomAD v4
15g.22903712G>ACA391334143CYFIP1c.2576C>T (p.Thr859Ile)
c.2582C>T (p.Thr861Ile)
c.1289C>T (p.Thr430Ile)
n.1729C>T
c.2981C>T (p.Thr994Ile)
c.2684C>T (p.Thr895Ile)
c.902C>T (p.Thr301Ile)
c.2492C>T (p.Thr831Ile)
c.2216C>T (p.Thr739Ile)
c.2480C>T (p.Thr827Ile)
c.2678C>T (p.Thr893Ile)
c.3083C>T (p.Thr1028Ile)
dbSNP gnomAD v3 gnomAD v4
15g.22903712G>CCA7425132CYFIP1c.2576C>G (p.Thr859Ser)
c.2582C>G (p.Thr861Ser)
c.1289C>G (p.Thr430Ser)
n.1729C>G
c.2981C>G (p.Thr994Ser)
c.2684C>G (p.Thr895Ser)
c.902C>G (p.Thr301Ser)
c.2492C>G (p.Thr831Ser)
c.2216C>G (p.Thr739Ser)
c.2480C>G (p.Thr827Ser)
c.2678C>G (p.Thr893Ser)
c.3083C>G (p.Thr1028Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.22903712G=CA2163977899CYFIP1c.2576C= (p.Thr859=)
c.2582C= (p.Thr861=)
c.1289C= (p.Thr430=)
n.1729C=
c.2981C= (p.Thr994=)
c.2684C= (p.Thr895=)
c.902C= (p.Thr301=)
c.2492C= (p.Thr831=)
c.2216C= (p.Thr739=)
c.2480C= (p.Thr827=)
c.2678C= (p.Thr893=)
c.3083C= (p.Thr1028=)
15g.22903712G>TCA391334141CYFIP1c.2576C>A (p.Thr859Asn)
c.2582C>A (p.Thr861Asn)
c.1289C>A (p.Thr430Asn)
n.1729C>A
c.2981C>A (p.Thr994Asn)
c.2684C>A (p.Thr895Asn)
c.902C>A (p.Thr301Asn)
c.2492C>A (p.Thr831Asn)
c.2216C>A (p.Thr739Asn)
c.2480C>A (p.Thr827Asn)
c.2678C>A (p.Thr893Asn)
c.3083C>A (p.Thr1028Asn)
dbSNP gnomAD v2 gnomAD v4
15g.22903713T>ACA391334146CYFIP1c.2575A>T (p.Thr859Ser)
c.2581A>T (p.Thr861Ser)
c.1288A>T (p.Thr430Ser)
n.1728A>T
c.2980A>T (p.Thr994Ser)
c.2683A>T (p.Thr895Ser)
c.901A>T (p.Thr301Ser)
c.2491A>T (p.Thr831Ser)
c.2215A>T (p.Thr739Ser)
c.2479A>T (p.Thr827Ser)
c.2677A>T (p.Thr893Ser)
c.3082A>T (p.Thr1028Ser)
15g.22903713T>CCA391334147CYFIP1c.2575A>G (p.Thr859Ala)
c.2581A>G (p.Thr861Ala)
c.1288A>G (p.Thr430Ala)
n.1728A>G
c.2980A>G (p.Thr994Ala)
c.2683A>G (p.Thr895Ala)
c.901A>G (p.Thr301Ala)
c.2491A>G (p.Thr831Ala)
c.2215A>G (p.Thr739Ala)
c.2479A>G (p.Thr827Ala)
c.2677A>G (p.Thr893Ala)
c.3082A>G (p.Thr1028Ala)
dbSNP
15g.22903713T>GCA391334148CYFIP1c.2575A>C (p.Thr859Pro)
c.2581A>C (p.Thr861Pro)
c.1288A>C (p.Thr430Pro)
n.1728A>C
c.2980A>C (p.Thr994Pro)
c.2683A>C (p.Thr895Pro)
c.901A>C (p.Thr301Pro)
c.2491A>C (p.Thr831Pro)
c.2215A>C (p.Thr739Pro)
c.2479A>C (p.Thr827Pro)
c.2677A>C (p.Thr893Pro)
c.3082A>C (p.Thr1028Pro)
15g.22903713T=CA2163977902CYFIP1c.2575A= (p.Thr859=)
c.2581A= (p.Thr861=)
c.1288A= (p.Thr430=)
n.1728A=
c.2980A= (p.Thr994=)
c.2683A= (p.Thr895=)
c.901A= (p.Thr301=)
c.2491A= (p.Thr831=)
c.2215A= (p.Thr739=)
c.2479A= (p.Thr827=)
c.2677A= (p.Thr893=)
c.3082A= (p.Thr1028=)
15g.22903714A>CCA488526422CYFIP1c.2574T>G (p.Ser858=)
c.2580T>G (p.Ser860=)
c.1287T>G (p.Ser429=)
n.1727T>G
c.2979T>G (p.Ser993=)
c.2682T>G (p.Ser894=)
c.900T>G (p.Ser300=)
c.2490T>G (p.Ser830=)
c.2214T>G (p.Ser738=)
c.2478T>G (p.Ser826=)
c.2676T>G (p.Ser892=)
c.3081T>G (p.Ser1027=)
15g.22903714A>GCA488526420CYFIP1c.2574T>C (p.Ser858=)
c.2580T>C (p.Ser860=)
c.1287T>C (p.Ser429=)
n.1727T>C
c.2979T>C (p.Ser993=)
c.2682T>C (p.Ser894=)
c.900T>C (p.Ser300=)
c.2490T>C (p.Ser830=)
c.2214T>C (p.Ser738=)
c.2478T>C (p.Ser826=)
c.2676T>C (p.Ser892=)
c.3081T>C (p.Ser1027=)
15g.22903714A>TCA488526421CYFIP1c.2574T>A (p.Ser858=)
c.2580T>A (p.Ser860=)
c.1287T>A (p.Ser429=)
n.1727T>A
c.2979T>A (p.Ser993=)
c.2682T>A (p.Ser894=)
c.900T>A (p.Ser300=)
c.2490T>A (p.Ser830=)
c.2214T>A (p.Ser738=)
c.2478T>A (p.Ser826=)
c.2676T>A (p.Ser892=)
c.3081T>A (p.Ser1027=)
15g.22903715G>ACA391334150CYFIP1c.2573C>T (p.Ser858Phe)
c.2579C>T (p.Ser860Phe)
c.1286C>T (p.Ser429Phe)
n.1726C>T
c.2978C>T (p.Ser993Phe)
c.2681C>T (p.Ser894Phe)
c.899C>T (p.Ser300Phe)
c.2489C>T (p.Ser830Phe)
c.2213C>T (p.Ser738Phe)
c.2477C>T (p.Ser826Phe)
c.2675C>T (p.Ser892Phe)
c.3080C>T (p.Ser1027Phe)
15g.22903715G>CCA7425131CYFIP1c.2573C>G (p.Ser858Cys)
c.2579C>G (p.Ser860Cys)
c.1286C>G (p.Ser429Cys)
n.1726C>G
c.2978C>G (p.Ser993Cys)
c.2681C>G (p.Ser894Cys)
c.899C>G (p.Ser300Cys)
c.2489C>G (p.Ser830Cys)
c.2213C>G (p.Ser738Cys)
c.2477C>G (p.Ser826Cys)
c.2675C>G (p.Ser892Cys)
c.3080C>G (p.Ser1027Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903715G=CA2163977907CYFIP1c.2573C= (p.Ser858=)
c.2579C= (p.Ser860=)
c.1286C= (p.Ser429=)
n.1726C=
c.2978C= (p.Ser993=)
c.2681C= (p.Ser894=)
c.899C= (p.Ser300=)
c.2489C= (p.Ser830=)
c.2213C= (p.Ser738=)
c.2477C= (p.Ser826=)
c.2675C= (p.Ser892=)
c.3080C= (p.Ser1027=)
15g.22903715G>TCA391334152CYFIP1c.2573C>A (p.Ser858Tyr)
c.2579C>A (p.Ser860Tyr)
c.1286C>A (p.Ser429Tyr)
n.1726C>A
c.2978C>A (p.Ser993Tyr)
c.2681C>A (p.Ser894Tyr)
c.899C>A (p.Ser300Tyr)
c.2489C>A (p.Ser830Tyr)
c.2213C>A (p.Ser738Tyr)
c.2477C>A (p.Ser826Tyr)
c.2675C>A (p.Ser892Tyr)
c.3080C>A (p.Ser1027Tyr)
15g.22903716A>CCA391334154CYFIP1c.2572T>G (p.Ser858Ala)
c.2578T>G (p.Ser860Ala)
c.1285T>G (p.Ser429Ala)
n.1725T>G
c.2977T>G (p.Ser993Ala)
c.2680T>G (p.Ser894Ala)
c.898T>G (p.Ser300Ala)
c.2488T>G (p.Ser830Ala)
c.2212T>G (p.Ser738Ala)
c.2476T>G (p.Ser826Ala)
c.2674T>G (p.Ser892Ala)
c.3079T>G (p.Ser1027Ala)
15g.22903716A>GCA391334156CYFIP1c.2572T>C (p.Ser858Pro)
c.2578T>C (p.Ser860Pro)
c.1285T>C (p.Ser429Pro)
n.1725T>C
c.2977T>C (p.Ser993Pro)
c.2680T>C (p.Ser894Pro)
c.898T>C (p.Ser300Pro)
c.2488T>C (p.Ser830Pro)
c.2212T>C (p.Ser738Pro)
c.2476T>C (p.Ser826Pro)
c.2674T>C (p.Ser892Pro)
c.3079T>C (p.Ser1027Pro)
15g.22903716A>TCA391334158CYFIP1c.2572T>A (p.Ser858Thr)
c.2578T>A (p.Ser860Thr)
c.1285T>A (p.Ser429Thr)
n.1725T>A
c.2977T>A (p.Ser993Thr)
c.2680T>A (p.Ser894Thr)
c.898T>A (p.Ser300Thr)
c.2488T>A (p.Ser830Thr)
c.2212T>A (p.Ser738Thr)
c.2476T>A (p.Ser826Thr)
c.2674T>A (p.Ser892Thr)
c.3079T>A (p.Ser1027Thr)
15g.22903717G>ACA488526423CYFIP1c.2571C>T (p.Gly857=)
c.2577C>T (p.Gly859=)
c.1284C>T (p.Gly428=)
n.1724C>T
c.2976C>T (p.Gly992=)
c.2679C>T (p.Gly893=)
c.897C>T (p.Gly299=)
c.2487C>T (p.Gly829=)
c.2211C>T (p.Gly737=)
c.2475C>T (p.Gly825=)
c.2673C>T (p.Gly891=)
c.3078C>T (p.Gly1026=)
15g.22903717G>CCA488526424CYFIP1c.2571C>G (p.Gly857=)
c.2577C>G (p.Gly859=)
c.1284C>G (p.Gly428=)
n.1724C>G
c.2976C>G (p.Gly992=)
c.2679C>G (p.Gly893=)
c.897C>G (p.Gly299=)
c.2487C>G (p.Gly829=)
c.2211C>G (p.Gly737=)
c.2475C>G (p.Gly825=)
c.2673C>G (p.Gly891=)
c.3078C>G (p.Gly1026=)
gnomAD v4
15g.22903717G>TCA488526425CYFIP1c.2571C>A (p.Gly857=)
c.2577C>A (p.Gly859=)
c.1284C>A (p.Gly428=)
n.1724C>A
c.2976C>A (p.Gly992=)
c.2679C>A (p.Gly893=)
c.897C>A (p.Gly299=)
c.2487C>A (p.Gly829=)
c.2211C>A (p.Gly737=)
c.2475C>A (p.Gly825=)
c.2673C>A (p.Gly891=)
c.3078C>A (p.Gly1026=)
15g.22903718C>ACA391334160CYFIP1c.2570G>T (p.Gly857Val)
c.2576G>T (p.Gly859Val)
c.1283G>T (p.Gly428Val)
n.1723G>T
c.2975G>T (p.Gly992Val)
c.2678G>T (p.Gly893Val)
c.896G>T (p.Gly299Val)
c.2486G>T (p.Gly829Val)
c.2210G>T (p.Gly737Val)
c.2474G>T (p.Gly825Val)
c.2672G>T (p.Gly891Val)
c.3077G>T (p.Gly1026Val)
15g.22903718C=CA2163977915CYFIP1c.2570G= (p.Gly857=)
c.2576G= (p.Gly859=)
c.1283G= (p.Gly428=)
n.1723G=
c.2975G= (p.Gly992=)
c.2678G= (p.Gly893=)
c.896G= (p.Gly299=)
c.2486G= (p.Gly829=)
c.2210G= (p.Gly737=)
c.2474G= (p.Gly825=)
c.2672G= (p.Gly891=)
c.3077G= (p.Gly1026=)
15g.22903718C>GCA391334161CYFIP1c.2570G>C (p.Gly857Ala)
c.2576G>C (p.Gly859Ala)
c.1283G>C (p.Gly428Ala)
n.1723G>C
c.2975G>C (p.Gly992Ala)
c.2678G>C (p.Gly893Ala)
c.896G>C (p.Gly299Ala)
c.2486G>C (p.Gly829Ala)
c.2210G>C (p.Gly737Ala)
c.2474G>C (p.Gly825Ala)
c.2672G>C (p.Gly891Ala)
c.3077G>C (p.Gly1026Ala)
15g.22903718C>TCA7425130CYFIP1c.2570G>A (p.Gly857Asp)
c.2576G>A (p.Gly859Asp)
c.1283G>A (p.Gly428Asp)
n.1723G>A
c.2975G>A (p.Gly992Asp)
c.2678G>A (p.Gly893Asp)
c.896G>A (p.Gly299Asp)
c.2486G>A (p.Gly829Asp)
c.2210G>A (p.Gly737Asp)
c.2474G>A (p.Gly825Asp)
c.2672G>A (p.Gly891Asp)
c.3077G>A (p.Gly1026Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.22903719C>ACA391334165CYFIP1c.2569G>T (p.Gly857Cys)
c.2575G>T (p.Gly859Cys)
c.1282G>T (p.Gly428Cys)
n.1722G>T
c.2974G>T (p.Gly992Cys)
c.2677G>T (p.Gly893Cys)
c.895G>T (p.Gly299Cys)
c.2485G>T (p.Gly829Cys)
c.2209G>T (p.Gly737Cys)
c.2473G>T (p.Gly825Cys)
c.2671G>T (p.Gly891Cys)
c.3076G>T (p.Gly1026Cys)
gnomAD v4
15g.22903719C=CA2163977917CYFIP1c.2569G= (p.Gly857=)
c.2575G= (p.Gly859=)
c.1282G= (p.Gly428=)
n.1722G=
c.2974G= (p.Gly992=)
c.2677G= (p.Gly893=)
c.895G= (p.Gly299=)
c.2485G= (p.Gly829=)
c.2209G= (p.Gly737=)
c.2473G= (p.Gly825=)
c.2671G= (p.Gly891=)
c.3076G= (p.Gly1026=)
15g.22903719C>GCA391334166CYFIP1c.2569G>C (p.Gly857Arg)
c.2575G>C (p.Gly859Arg)
c.1282G>C (p.Gly428Arg)
n.1722G>C
c.2974G>C (p.Gly992Arg)
c.2677G>C (p.Gly893Arg)
c.895G>C (p.Gly299Arg)
c.2485G>C (p.Gly829Arg)
c.2209G>C (p.Gly737Arg)
c.2473G>C (p.Gly825Arg)
c.2671G>C (p.Gly891Arg)
c.3076G>C (p.Gly1026Arg)
15g.22903719C>TCA7425129CYFIP1c.2569G>A (p.Gly857Ser)
c.2575G>A (p.Gly859Ser)
c.1282G>A (p.Gly428Ser)
n.1722G>A
c.2974G>A (p.Gly992Ser)
c.2677G>A (p.Gly893Ser)
c.895G>A (p.Gly299Ser)
c.2485G>A (p.Gly829Ser)
c.2209G>A (p.Gly737Ser)
c.2473G>A (p.Gly825Ser)
c.2671G>A (p.Gly891Ser)
c.3076G>A (p.Gly1026Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903720G>ACA7425128CYFIP1c.2568C>T (p.Asn856=)
c.2574C>T (p.Asn858=)
c.1281C>T (p.Asn427=)
n.1721C>T
c.2973C>T (p.Asn991=)
c.2676C>T (p.Asn892=)
c.894C>T (p.Asn298=)
c.2484C>T (p.Asn828=)
c.2208C>T (p.Asn736=)
c.2472C>T (p.Asn824=)
c.2670C>T (p.Asn890=)
c.3075C>T (p.Asn1025=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903720G>CCA391334170CYFIP1c.2568C>G (p.Asn856Lys)
c.2574C>G (p.Asn858Lys)
c.1281C>G (p.Asn427Lys)
n.1721C>G
c.2973C>G (p.Asn991Lys)
c.2676C>G (p.Asn892Lys)
c.894C>G (p.Asn298Lys)
c.2484C>G (p.Asn828Lys)
c.2208C>G (p.Asn736Lys)
c.2472C>G (p.Asn824Lys)
c.2670C>G (p.Asn890Lys)
c.3075C>G (p.Asn1025Lys)
15g.22903720G=CA2163977921CYFIP1c.2568C= (p.Asn856=)
c.2574C= (p.Asn858=)
c.1281C= (p.Asn427=)
n.1721C=
c.2973C= (p.Asn991=)
c.2676C= (p.Asn892=)
c.894C= (p.Asn298=)
c.2484C= (p.Asn828=)
c.2208C= (p.Asn736=)
c.2472C= (p.Asn824=)
c.2670C= (p.Asn890=)
c.3075C= (p.Asn1025=)
15g.22903720G>TCA391334171CYFIP1c.2568C>A (p.Asn856Lys)
c.2574C>A (p.Asn858Lys)
c.1281C>A (p.Asn427Lys)
n.1721C>A
c.2973C>A (p.Asn991Lys)
c.2676C>A (p.Asn892Lys)
c.894C>A (p.Asn298Lys)
c.2484C>A (p.Asn828Lys)
c.2208C>A (p.Asn736Lys)
c.2472C>A (p.Asn824Lys)
c.2670C>A (p.Asn890Lys)
c.3075C>A (p.Asn1025Lys)
15g.22903721T>ACA391334173CYFIP1c.2567A>T (p.Asn856Ile)
c.2573A>T (p.Asn858Ile)
c.1280A>T (p.Asn427Ile)
n.1720A>T
c.2972A>T (p.Asn991Ile)
c.2675A>T (p.Asn892Ile)
c.893A>T (p.Asn298Ile)
c.2483A>T (p.Asn828Ile)
c.2207A>T (p.Asn736Ile)
c.2471A>T (p.Asn824Ile)
c.2669A>T (p.Asn890Ile)
c.3074A>T (p.Asn1025Ile)
15g.22903721T>CCA391334175CYFIP1c.2567A>G (p.Asn856Ser)
c.2573A>G (p.Asn858Ser)
c.1280A>G (p.Asn427Ser)
n.1720A>G
c.2972A>G (p.Asn991Ser)
c.2675A>G (p.Asn892Ser)
c.893A>G (p.Asn298Ser)
c.2483A>G (p.Asn828Ser)
c.2207A>G (p.Asn736Ser)
c.2471A>G (p.Asn824Ser)
c.2669A>G (p.Asn890Ser)
c.3074A>G (p.Asn1025Ser)
15g.22903721T>GCA391334176CYFIP1c.2567A>C (p.Asn856Thr)
c.2573A>C (p.Asn858Thr)
c.1280A>C (p.Asn427Thr)
n.1720A>C
c.2972A>C (p.Asn991Thr)
c.2675A>C (p.Asn892Thr)
c.893A>C (p.Asn298Thr)
c.2483A>C (p.Asn828Thr)
c.2207A>C (p.Asn736Thr)
c.2471A>C (p.Asn824Thr)
c.2669A>C (p.Asn890Thr)
c.3074A>C (p.Asn1025Thr)
15g.22903722T>ACA391334177CYFIP1c.2566A>T (p.Asn856Tyr)
c.2572A>T (p.Asn858Tyr)
c.1279A>T (p.Asn427Tyr)
n.1719A>T
c.2971A>T (p.Asn991Tyr)
c.2674A>T (p.Asn892Tyr)
c.892A>T (p.Asn298Tyr)
c.2482A>T (p.Asn828Tyr)
c.2206A>T (p.Asn736Tyr)
c.2470A>T (p.Asn824Tyr)
c.2668A>T (p.Asn890Tyr)
c.3073A>T (p.Asn1025Tyr)
15g.22903722T>CCA391334180CYFIP1c.2566A>G (p.Asn856Asp)
c.2572A>G (p.Asn858Asp)
c.1279A>G (p.Asn427Asp)
n.1719A>G
c.2971A>G (p.Asn991Asp)
c.2674A>G (p.Asn892Asp)
c.892A>G (p.Asn298Asp)
c.2482A>G (p.Asn828Asp)
c.2206A>G (p.Asn736Asp)
c.2470A>G (p.Asn824Asp)
c.2668A>G (p.Asn890Asp)
c.3073A>G (p.Asn1025Asp)
15g.22903722T>GCA391334181CYFIP1c.2566A>C (p.Asn856His)
c.2572A>C (p.Asn858His)
c.1279A>C (p.Asn427His)
n.1719A>C
c.2971A>C (p.Asn991His)
c.2674A>C (p.Asn892His)
c.892A>C (p.Asn298His)
c.2482A>C (p.Asn828His)
c.2206A>C (p.Asn736His)
c.2470A>C (p.Asn824His)
c.2668A>C (p.Asn890His)
c.3073A>C (p.Asn1025His)
15g.22903723G>ACA7425127CYFIP1c.2565C>T (p.Tyr855=)
c.2571C>T (p.Tyr857=)
c.1278C>T (p.Tyr426=)
n.1718C>T
c.2970C>T (p.Tyr990=)
c.2673C>T (p.Tyr891=)
c.891C>T (p.Tyr297=)
c.2481C>T (p.Tyr827=)
c.2205C>T (p.Tyr735=)
c.2469C>T (p.Tyr823=)
c.2667C>T (p.Tyr889=)
c.3072C>T (p.Tyr1024=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903723G>CCA391334184CYFIP1c.2565C>G (p.Tyr855Ter)
c.2571C>G (p.Tyr857Ter)
c.1278C>G (p.Tyr426Ter)
n.1718C>G
c.2970C>G (p.Tyr990Ter)
c.2673C>G (p.Tyr891Ter)
c.891C>G (p.Tyr297Ter)
c.2481C>G (p.Tyr827Ter)
c.2205C>G (p.Tyr735Ter)
c.2469C>G (p.Tyr823Ter)
c.2667C>G (p.Tyr889Ter)
c.3072C>G (p.Tyr1024Ter)
15g.22903723G=CA2163977925CYFIP1c.2565C= (p.Tyr855=)
c.2571C= (p.Tyr857=)
c.1278C= (p.Tyr426=)
n.1718C=
c.2970C= (p.Tyr990=)
c.2673C= (p.Tyr891=)
c.891C= (p.Tyr297=)
c.2481C= (p.Tyr827=)
c.2205C= (p.Tyr735=)
c.2469C= (p.Tyr823=)
c.2667C= (p.Tyr889=)
c.3072C= (p.Tyr1024=)
15g.22903723G>TCA391334185CYFIP1c.2565C>A (p.Tyr855Ter)
c.2571C>A (p.Tyr857Ter)
c.1278C>A (p.Tyr426Ter)
n.1718C>A
c.2970C>A (p.Tyr990Ter)
c.2673C>A (p.Tyr891Ter)
c.891C>A (p.Tyr297Ter)
c.2481C>A (p.Tyr827Ter)
c.2205C>A (p.Tyr735Ter)
c.2469C>A (p.Tyr823Ter)
c.2667C>A (p.Tyr889Ter)
c.3072C>A (p.Tyr1024Ter)
15g.22903724T>ACA391334189CYFIP1c.2564A>T (p.Tyr855Phe)
c.2570A>T (p.Tyr857Phe)
c.1277A>T (p.Tyr426Phe)
n.1717A>T
c.2969A>T (p.Tyr990Phe)
c.2672A>T (p.Tyr891Phe)
c.890A>T (p.Tyr297Phe)
c.2480A>T (p.Tyr827Phe)
c.2204A>T (p.Tyr735Phe)
c.2468A>T (p.Tyr823Phe)
c.2666A>T (p.Tyr889Phe)
c.3071A>T (p.Tyr1024Phe)
15g.22903724T>CCA391334187CYFIP1c.2564A>G (p.Tyr855Cys)
c.2570A>G (p.Tyr857Cys)
c.1277A>G (p.Tyr426Cys)
n.1717A>G
c.2969A>G (p.Tyr990Cys)
c.2672A>G (p.Tyr891Cys)
c.890A>G (p.Tyr297Cys)
c.2480A>G (p.Tyr827Cys)
c.2204A>G (p.Tyr735Cys)
c.2468A>G (p.Tyr823Cys)
c.2666A>G (p.Tyr889Cys)
c.3071A>G (p.Tyr1024Cys)
15g.22903724T>GCA391334188CYFIP1c.2564A>C (p.Tyr855Ser)
c.2570A>C (p.Tyr857Ser)
c.1277A>C (p.Tyr426Ser)
n.1717A>C
c.2969A>C (p.Tyr990Ser)
c.2672A>C (p.Tyr891Ser)
c.890A>C (p.Tyr297Ser)
c.2480A>C (p.Tyr827Ser)
c.2204A>C (p.Tyr735Ser)
c.2468A>C (p.Tyr823Ser)
c.2666A>C (p.Tyr889Ser)
c.3071A>C (p.Tyr1024Ser)
15g.22903725A>CCA391334190CYFIP1c.2563T>G (p.Tyr855Asp)
c.2569T>G (p.Tyr857Asp)
c.1276T>G (p.Tyr426Asp)
n.1716T>G
c.2968T>G (p.Tyr990Asp)
c.2671T>G (p.Tyr891Asp)
c.889T>G (p.Tyr297Asp)
c.2479T>G (p.Tyr827Asp)
c.2203T>G (p.Tyr735Asp)
c.2467T>G (p.Tyr823Asp)
c.2665T>G (p.Tyr889Asp)
c.3070T>G (p.Tyr1024Asp)
15g.22903725A>GCA391334191CYFIP1c.2563T>C (p.Tyr855His)
c.2569T>C (p.Tyr857His)
c.1276T>C (p.Tyr426His)
n.1716T>C
c.2968T>C (p.Tyr990His)
c.2671T>C (p.Tyr891His)
c.889T>C (p.Tyr297His)
c.2479T>C (p.Tyr827His)
c.2203T>C (p.Tyr735His)
c.2467T>C (p.Tyr823His)
c.2665T>C (p.Tyr889His)
c.3070T>C (p.Tyr1024His)
gnomAD v4
15g.22903725A>TCA391334192CYFIP1c.2563T>A (p.Tyr855Asn)
c.2569T>A (p.Tyr857Asn)
c.1276T>A (p.Tyr426Asn)
n.1716T>A
c.2968T>A (p.Tyr990Asn)
c.2671T>A (p.Tyr891Asn)
c.889T>A (p.Tyr297Asn)
c.2479T>A (p.Tyr827Asn)
c.2203T>A (p.Tyr735Asn)
c.2467T>A (p.Tyr823Asn)
c.2665T>A (p.Tyr889Asn)
c.3070T>A (p.Tyr1024Asn)
15g.22903726G>ACA488526426CYFIP1c.2562C>T (p.Cys854=)
c.2568C>T (p.Cys856=)
c.1275C>T (p.Cys425=)
n.1715C>T
c.2967C>T (p.Cys989=)
c.2670C>T (p.Cys890=)
c.888C>T (p.Cys296=)
c.2478C>T (p.Cys826=)
c.2202C>T (p.Cys734=)
c.2466C>T (p.Cys822=)
c.2664C>T (p.Cys888=)
c.3069C>T (p.Cys1023=)
15g.22903726G>CCA391334193CYFIP1c.2562C>G (p.Cys854Trp)
c.2568C>G (p.Cys856Trp)
c.1275C>G (p.Cys425Trp)
n.1715C>G
c.2967C>G (p.Cys989Trp)
c.2670C>G (p.Cys890Trp)
c.888C>G (p.Cys296Trp)
c.2478C>G (p.Cys826Trp)
c.2202C>G (p.Cys734Trp)
c.2466C>G (p.Cys822Trp)
c.2664C>G (p.Cys888Trp)
c.3069C>G (p.Cys1023Trp)
dbSNP gnomAD v2
15g.22903726G=CA2163977929CYFIP1c.2562C= (p.Cys854=)
c.2568C= (p.Cys856=)
c.1275C= (p.Cys425=)
n.1715C=
c.2967C= (p.Cys989=)
c.2670C= (p.Cys890=)
c.888C= (p.Cys296=)
c.2478C= (p.Cys826=)
c.2202C= (p.Cys734=)
c.2466C= (p.Cys822=)
c.2664C= (p.Cys888=)
c.3069C= (p.Cys1023=)
15g.22903726G>TCA391334194CYFIP1c.2562C>A (p.Cys854Ter)
c.2568C>A (p.Cys856Ter)
c.1275C>A (p.Cys425Ter)
n.1715C>A
c.2967C>A (p.Cys989Ter)
c.2670C>A (p.Cys890Ter)
c.888C>A (p.Cys296Ter)
c.2478C>A (p.Cys826Ter)
c.2202C>A (p.Cys734Ter)
c.2466C>A (p.Cys822Ter)
c.2664C>A (p.Cys888Ter)
c.3069C>A (p.Cys1023Ter)
15g.22903727C>ACA391334195CYFIP1c.2561G>T (p.Cys854Phe)
c.2567G>T (p.Cys856Phe)
c.1274G>T (p.Cys425Phe)
n.1714G>T
c.2966G>T (p.Cys989Phe)
c.2669G>T (p.Cys890Phe)
c.887G>T (p.Cys296Phe)
c.2477G>T (p.Cys826Phe)
c.2201G>T (p.Cys734Phe)
c.2465G>T (p.Cys822Phe)
c.2663G>T (p.Cys888Phe)
c.3068G>T (p.Cys1023Phe)
15g.22903727C>GCA391334196CYFIP1c.2561G>C (p.Cys854Ser)
c.2567G>C (p.Cys856Ser)
c.1274G>C (p.Cys425Ser)
n.1714G>C
c.2966G>C (p.Cys989Ser)
c.2669G>C (p.Cys890Ser)
c.887G>C (p.Cys296Ser)
c.2477G>C (p.Cys826Ser)
c.2201G>C (p.Cys734Ser)
c.2465G>C (p.Cys822Ser)
c.2663G>C (p.Cys888Ser)
c.3068G>C (p.Cys1023Ser)
15g.22903727C>TCA391334198CYFIP1c.2561G>A (p.Cys854Tyr)
c.2567G>A (p.Cys856Tyr)
c.1274G>A (p.Cys425Tyr)
n.1714G>A
c.2966G>A (p.Cys989Tyr)
c.2669G>A (p.Cys890Tyr)
c.887G>A (p.Cys296Tyr)
c.2477G>A (p.Cys826Tyr)
c.2201G>A (p.Cys734Tyr)
c.2465G>A (p.Cys822Tyr)
c.2663G>A (p.Cys888Tyr)
c.3068G>A (p.Cys1023Tyr)
gnomAD v4
15g.22903727_22903730delinsCAGTCA2163977933CYFIP1c.2558_2561delinsACTG (p.Tyr853=)
c.2564_2567delinsACTG (p.Tyr855=)
c.1271_1274delinsACTG (p.Tyr424=)
n.1711_1714delinsACTG
c.2963_2966delinsACTG (p.Tyr988=)
c.2666_2669delinsACTG (p.Tyr889=)
c.884_887delinsACTG (p.Tyr295=)
c.2474_2477delinsACTG (p.Tyr825=)
c.2198_2201delinsACTG (p.Tyr733=)
c.2462_2465delinsACTG (p.Tyr821=)
c.2660_2663delinsACTG (p.Tyr887=)
c.3065_3068delinsACTG (p.Tyr1022=)
15g.22903728A>CCA391334200CYFIP1c.2560T>G (p.Cys854Gly)
c.2566T>G (p.Cys856Gly)
c.1273T>G (p.Cys425Gly)
n.1713T>G
c.2965T>G (p.Cys989Gly)
c.2668T>G (p.Cys890Gly)
c.886T>G (p.Cys296Gly)
c.2476T>G (p.Cys826Gly)
c.2200T>G (p.Cys734Gly)
c.2464T>G (p.Cys822Gly)
c.2662T>G (p.Cys888Gly)
c.3067T>G (p.Cys1023Gly)
15g.22903728A>GCA391334202CYFIP1c.2560T>C (p.Cys854Arg)
c.2566T>C (p.Cys856Arg)
c.1273T>C (p.Cys425Arg)
n.1713T>C
c.2965T>C (p.Cys989Arg)
c.2668T>C (p.Cys890Arg)
c.886T>C (p.Cys296Arg)
c.2476T>C (p.Cys826Arg)
c.2200T>C (p.Cys734Arg)
c.2464T>C (p.Cys822Arg)
c.2662T>C (p.Cys888Arg)
c.3067T>C (p.Cys1023Arg)
gnomAD v4
15g.22903728A>TCA391334204CYFIP1c.2560T>A (p.Cys854Ser)
c.2566T>A (p.Cys856Ser)
c.1273T>A (p.Cys425Ser)
n.1713T>A
c.2965T>A (p.Cys989Ser)
c.2668T>A (p.Cys890Ser)
c.886T>A (p.Cys296Ser)
c.2476T>A (p.Cys826Ser)
c.2200T>A (p.Cys734Ser)
c.2464T>A (p.Cys822Ser)
c.2662T>A (p.Cys888Ser)
c.3067T>A (p.Cys1023Ser)
15g.22903731_22903733delCA2163977936CYFIP1c.2558_2560del (p.Tyr853del)
c.2564_2566del (p.Tyr855del)
c.1271_1273del (p.Tyr424del)
n.1711_1713del
c.2963_2965del (p.Tyr988del)
c.2666_2668del (p.Tyr889del)
c.884_886del (p.Tyr295del)
c.2474_2476del (p.Tyr825del)
c.2198_2200del (p.Tyr733del)
c.2462_2464del (p.Tyr821del)
c.2660_2662del (p.Tyr887del)
c.3065_3067del (p.Tyr1022del)
dbSNP
15g.22903729G>ACA267616331CYFIP1c.2559C>T (p.Tyr853=)
c.2565C>T (p.Tyr855=)
c.1272C>T (p.Tyr424=)
n.1712C>T
c.2964C>T (p.Tyr988=)
c.2667C>T (p.Tyr889=)
c.885C>T (p.Tyr295=)
c.2475C>T (p.Tyr825=)
c.2199C>T (p.Tyr733=)
c.2463C>T (p.Tyr821=)
c.2661C>T (p.Tyr887=)
c.3066C>T (p.Tyr1022=)
dbSNP
15g.22903729G>CCA391334208CYFIP1c.2559C>G (p.Tyr853Ter)
c.2565C>G (p.Tyr855Ter)
c.1272C>G (p.Tyr424Ter)
n.1712C>G
c.2964C>G (p.Tyr988Ter)
c.2667C>G (p.Tyr889Ter)
c.885C>G (p.Tyr295Ter)
c.2475C>G (p.Tyr825Ter)
c.2199C>G (p.Tyr733Ter)
c.2463C>G (p.Tyr821Ter)
c.2661C>G (p.Tyr887Ter)
c.3066C>G (p.Tyr1022Ter)
15g.22903729G=CA2163977938CYFIP1c.2559C= (p.Tyr853=)
c.2565C= (p.Tyr855=)
c.1272C= (p.Tyr424=)
n.1712C=
c.2964C= (p.Tyr988=)
c.2667C= (p.Tyr889=)
c.885C= (p.Tyr295=)
c.2475C= (p.Tyr825=)
c.2199C= (p.Tyr733=)
c.2463C= (p.Tyr821=)
c.2661C= (p.Tyr887=)
c.3066C= (p.Tyr1022=)
15g.22903729G>TCA391334206CYFIP1c.2559C>A (p.Tyr853Ter)
c.2565C>A (p.Tyr855Ter)
c.1272C>A (p.Tyr424Ter)
n.1712C>A
c.2964C>A (p.Tyr988Ter)
c.2667C>A (p.Tyr889Ter)
c.885C>A (p.Tyr295Ter)
c.2475C>A (p.Tyr825Ter)
c.2199C>A (p.Tyr733Ter)
c.2463C>A (p.Tyr821Ter)
c.2661C>A (p.Tyr887Ter)
c.3066C>A (p.Tyr1022Ter)
15g.22903730T>ACA391334209CYFIP1c.2558A>T (p.Tyr853Phe)
c.2564A>T (p.Tyr855Phe)
c.1271A>T (p.Tyr424Phe)
n.1711A>T
c.2963A>T (p.Tyr988Phe)
c.2666A>T (p.Tyr889Phe)
c.884A>T (p.Tyr295Phe)
c.2474A>T (p.Tyr825Phe)
c.2198A>T (p.Tyr733Phe)
c.2462A>T (p.Tyr821Phe)
c.2660A>T (p.Tyr887Phe)
c.3065A>T (p.Tyr1022Phe)
15g.22903730T>CCA7425126CYFIP1c.2558A>G (p.Tyr853Cys)
c.2564A>G (p.Tyr855Cys)
c.1271A>G (p.Tyr424Cys)
n.1711A>G
c.2963A>G (p.Tyr988Cys)
c.2666A>G (p.Tyr889Cys)
c.884A>G (p.Tyr295Cys)
c.2474A>G (p.Tyr825Cys)
c.2198A>G (p.Tyr733Cys)
c.2462A>G (p.Tyr821Cys)
c.2660A>G (p.Tyr887Cys)
c.3065A>G (p.Tyr1022Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.22903730T>GCA391334211CYFIP1c.2558A>C (p.Tyr853Ser)
c.2564A>C (p.Tyr855Ser)
c.1271A>C (p.Tyr424Ser)
n.1711A>C
c.2963A>C (p.Tyr988Ser)
c.2666A>C (p.Tyr889Ser)
c.884A>C (p.Tyr295Ser)
c.2474A>C (p.Tyr825Ser)
c.2198A>C (p.Tyr733Ser)
c.2462A>C (p.Tyr821Ser)
c.2660A>C (p.Tyr887Ser)
c.3065A>C (p.Tyr1022Ser)
15g.22903730T=CA2163977942CYFIP1c.2558A= (p.Tyr853=)
c.2564A= (p.Tyr855=)
c.1271A= (p.Tyr424=)
n.1711A=
c.2963A= (p.Tyr988=)
c.2666A= (p.Tyr889=)
c.884A= (p.Tyr295=)
c.2474A= (p.Tyr825=)
c.2198A= (p.Tyr733=)
c.2462A= (p.Tyr821=)
c.2660A= (p.Tyr887=)
c.3065A= (p.Tyr1022=)
15g.22903731A>CCA391334213CYFIP1c.2557T>G (p.Tyr853Asp)
c.2563T>G (p.Tyr855Asp)
c.1270T>G (p.Tyr424Asp)
n.1710T>G
c.2962T>G (p.Tyr988Asp)
c.2665T>G (p.Tyr889Asp)
c.883T>G (p.Tyr295Asp)
c.2473T>G (p.Tyr825Asp)
c.2197T>G (p.Tyr733Asp)
c.2461T>G (p.Tyr821Asp)
c.2659T>G (p.Tyr887Asp)
c.3064T>G (p.Tyr1022Asp)
15g.22903731A>GCA391334214CYFIP1c.2557T>C (p.Tyr853His)
c.2563T>C (p.Tyr855His)
c.1270T>C (p.Tyr424His)
n.1710T>C
c.2962T>C (p.Tyr988His)
c.2665T>C (p.Tyr889His)
c.883T>C (p.Tyr295His)
c.2473T>C (p.Tyr825His)
c.2197T>C (p.Tyr733His)
c.2461T>C (p.Tyr821His)
c.2659T>C (p.Tyr887His)
c.3064T>C (p.Tyr1022His)
15g.22903731A>TCA391334216CYFIP1c.2557T>A (p.Tyr853Asn)
c.2563T>A (p.Tyr855Asn)
c.1270T>A (p.Tyr424Asn)
n.1710T>A
c.2962T>A (p.Tyr988Asn)
c.2665T>A (p.Tyr889Asn)
c.883T>A (p.Tyr295Asn)
c.2473T>A (p.Tyr825Asn)
c.2197T>A (p.Tyr733Asn)
c.2461T>A (p.Tyr821Asn)
c.2659T>A (p.Tyr887Asn)
c.3064T>A (p.Tyr1022Asn)
15g.22903732G>ACA488526427CYFIP1c.2556C>T (p.Asn852=)
c.2562C>T (p.Asn854=)
c.1269C>T (p.Asn423=)
n.1709C>T
c.2961C>T (p.Asn987=)
c.2664C>T (p.Asn888=)
c.882C>T (p.Asn294=)
c.2472C>T (p.Asn824=)
c.2196C>T (p.Asn732=)
c.2460C>T (p.Asn820=)
c.2658C>T (p.Asn886=)
c.3063C>T (p.Asn1021=)
gnomAD v4
15g.22903732G>CCA391334220CYFIP1c.2556C>G (p.Asn852Lys)
c.2562C>G (p.Asn854Lys)
c.1269C>G (p.Asn423Lys)
n.1709C>G
c.2961C>G (p.Asn987Lys)
c.2664C>G (p.Asn888Lys)
c.882C>G (p.Asn294Lys)
c.2472C>G (p.Asn824Lys)
c.2196C>G (p.Asn732Lys)
c.2460C>G (p.Asn820Lys)
c.2658C>G (p.Asn886Lys)
c.3063C>G (p.Asn1021Lys)
gnomAD v4
15g.22903732G>TCA391334218CYFIP1c.2556C>A (p.Asn852Lys)
c.2562C>A (p.Asn854Lys)
c.1269C>A (p.Asn423Lys)
n.1709C>A
c.2961C>A (p.Asn987Lys)
c.2664C>A (p.Asn888Lys)
c.882C>A (p.Asn294Lys)
c.2472C>A (p.Asn824Lys)
c.2196C>A (p.Asn732Lys)
c.2460C>A (p.Asn820Lys)
c.2658C>A (p.Asn886Lys)
c.3063C>A (p.Asn1021Lys)
15g.22903733T>ACA391334222CYFIP1c.2555A>T (p.Asn852Ile)
c.2561A>T (p.Asn854Ile)
c.1268A>T (p.Asn423Ile)
n.1708A>T
c.2960A>T (p.Asn987Ile)
c.2663A>T (p.Asn888Ile)
c.881A>T (p.Asn294Ile)
c.2471A>T (p.Asn824Ile)
c.2195A>T (p.Asn732Ile)
c.2459A>T (p.Asn820Ile)
c.2657A>T (p.Asn886Ile)
c.3062A>T (p.Asn1021Ile)
15g.22903733T>CCA391334224CYFIP1c.2555A>G (p.Asn852Ser)
c.2561A>G (p.Asn854Ser)
c.1268A>G (p.Asn423Ser)
n.1708A>G
c.2960A>G (p.Asn987Ser)
c.2663A>G (p.Asn888Ser)
c.881A>G (p.Asn294Ser)
c.2471A>G (p.Asn824Ser)
c.2195A>G (p.Asn732Ser)
c.2459A>G (p.Asn820Ser)
c.2657A>G (p.Asn886Ser)
c.3062A>G (p.Asn1021Ser)
dbSNP gnomAD v3 gnomAD v4
15g.22903733T>GCA391334225CYFIP1c.2555A>C (p.Asn852Thr)
c.2561A>C (p.Asn854Thr)
c.1268A>C (p.Asn423Thr)
n.1708A>C
c.2960A>C (p.Asn987Thr)
c.2663A>C (p.Asn888Thr)
c.881A>C (p.Asn294Thr)
c.2471A>C (p.Asn824Thr)
c.2195A>C (p.Asn732Thr)
c.2459A>C (p.Asn820Thr)
c.2657A>C (p.Asn886Thr)
c.3062A>C (p.Asn1021Thr)
15g.22903733T=CA2163977946CYFIP1c.2555A= (p.Asn852=)
c.2561A= (p.Asn854=)
c.1268A= (p.Asn423=)
n.1708A=
c.2960A= (p.Asn987=)
c.2663A= (p.Asn888=)
c.881A= (p.Asn294=)
c.2471A= (p.Asn824=)
c.2195A= (p.Asn732=)
c.2459A= (p.Asn820=)
c.2657A= (p.Asn886=)
c.3062A= (p.Asn1021=)
15g.22903734T>ACA391334228CYFIP1c.2554A>T (p.Asn852Tyr)
c.2560A>T (p.Asn854Tyr)
c.1267A>T (p.Asn423Tyr)
n.1707A>T
c.2959A>T (p.Asn987Tyr)
c.2662A>T (p.Asn888Tyr)
c.880A>T (p.Asn294Tyr)
c.2470A>T (p.Asn824Tyr)
c.2194A>T (p.Asn732Tyr)
c.2458A>T (p.Asn820Tyr)
c.2656A>T (p.Asn886Tyr)
c.3061A>T (p.Asn1021Tyr)
15g.22903734T>CCA391334229CYFIP1c.2554A>G (p.Asn852Asp)
c.2560A>G (p.Asn854Asp)
c.1267A>G (p.Asn423Asp)
n.1707A>G
c.2959A>G (p.Asn987Asp)
c.2662A>G (p.Asn888Asp)
c.880A>G (p.Asn294Asp)
c.2470A>G (p.Asn824Asp)
c.2194A>G (p.Asn732Asp)
c.2458A>G (p.Asn820Asp)
c.2656A>G (p.Asn886Asp)
c.3061A>G (p.Asn1021Asp)
15g.22903734T>GCA391334231CYFIP1c.2554A>C (p.Asn852His)
c.2560A>C (p.Asn854His)
c.1267A>C (p.Asn423His)
n.1707A>C
c.2959A>C (p.Asn987His)
c.2662A>C (p.Asn888His)
c.880A>C (p.Asn294His)
c.2470A>C (p.Asn824His)
c.2194A>C (p.Asn732His)
c.2458A>C (p.Asn820His)
c.2656A>C (p.Asn886His)
c.3061A>C (p.Asn1021His)
15g.22903735G>ACA488526428CYFIP1c.2553C>T (p.Pro851=)
c.2559C>T (p.Pro853=)
c.1266C>T (p.Pro422=)
n.1706C>T
c.2958C>T (p.Pro986=)
c.2661C>T (p.Pro887=)
c.879C>T (p.Pro293=)
c.2469C>T (p.Pro823=)
c.2193C>T (p.Pro731=)
c.2457C>T (p.Pro819=)
c.2655C>T (p.Pro885=)
c.3060C>T (p.Pro1020=)
15g.22903735G>CCA488526430CYFIP1c.2553C>G (p.Pro851=)
c.2559C>G (p.Pro853=)
c.1266C>G (p.Pro422=)
n.1706C>G
c.2958C>G (p.Pro986=)
c.2661C>G (p.Pro887=)
c.879C>G (p.Pro293=)
c.2469C>G (p.Pro823=)
c.2193C>G (p.Pro731=)
c.2457C>G (p.Pro819=)
c.2655C>G (p.Pro885=)
c.3060C>G (p.Pro1020=)
dbSNP gnomAD v2 gnomAD v4
15g.22903735G=CA2163977949CYFIP1c.2553C= (p.Pro851=)
c.2559C= (p.Pro853=)
c.1266C= (p.Pro422=)
n.1706C=
c.2958C= (p.Pro986=)
c.2661C= (p.Pro887=)
c.879C= (p.Pro293=)
c.2469C= (p.Pro823=)
c.2193C= (p.Pro731=)
c.2457C= (p.Pro819=)
c.2655C= (p.Pro885=)
c.3060C= (p.Pro1020=)
15g.22903735G>TCA488526429CYFIP1c.2553C>A (p.Pro851=)
c.2559C>A (p.Pro853=)
c.1266C>A (p.Pro422=)
n.1706C>A
c.2958C>A (p.Pro986=)
c.2661C>A (p.Pro887=)
c.879C>A (p.Pro293=)
c.2469C>A (p.Pro823=)
c.2193C>A (p.Pro731=)
c.2457C>A (p.Pro819=)
c.2655C>A (p.Pro885=)
c.3060C>A (p.Pro1020=)
15g.22903736G>ACA391334236CYFIP1c.2552C>T (p.Pro851Leu)
c.2558C>T (p.Pro853Leu)
c.1265C>T (p.Pro422Leu)
n.1705C>T
c.2957C>T (p.Pro986Leu)
c.2660C>T (p.Pro887Leu)
c.878C>T (p.Pro293Leu)
c.2468C>T (p.Pro823Leu)
c.2192C>T (p.Pro731Leu)
c.2456C>T (p.Pro819Leu)
c.2654C>T (p.Pro885Leu)
c.3059C>T (p.Pro1020Leu)
gnomAD v4
15g.22903736G>CCA7425125CYFIP1c.2552C>G (p.Pro851Arg)
c.2558C>G (p.Pro853Arg)
c.1265C>G (p.Pro422Arg)
n.1705C>G
c.2957C>G (p.Pro986Arg)
c.2660C>G (p.Pro887Arg)
c.878C>G (p.Pro293Arg)
c.2468C>G (p.Pro823Arg)
c.2192C>G (p.Pro731Arg)
c.2456C>G (p.Pro819Arg)
c.2654C>G (p.Pro885Arg)
c.3059C>G (p.Pro1020Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.22903736G=CA2163977950CYFIP1c.2552C= (p.Pro851=)
c.2558C= (p.Pro853=)
c.1265C= (p.Pro422=)
n.1705C=
c.2957C= (p.Pro986=)
c.2660C= (p.Pro887=)
c.878C= (p.Pro293=)
c.2468C= (p.Pro823=)
c.2192C= (p.Pro731=)
c.2456C= (p.Pro819=)
c.2654C= (p.Pro885=)
c.3059C= (p.Pro1020=)
15g.22903736G>TCA391334234CYFIP1c.2552C>A (p.Pro851His)
c.2558C>A (p.Pro853His)
c.1265C>A (p.Pro422His)
n.1705C>A
c.2957C>A (p.Pro986His)
c.2660C>A (p.Pro887His)
c.878C>A (p.Pro293His)
c.2468C>A (p.Pro823His)
c.2192C>A (p.Pro731His)
c.2456C>A (p.Pro819His)
c.2654C>A (p.Pro885His)
c.3059C>A (p.Pro1020His)
15g.22903737G>ACA391334238CYFIP1c.2551C>T (p.Pro851Ser)
c.2557C>T (p.Pro853Ser)
c.1264C>T (p.Pro422Ser)
n.1704C>T
c.2956C>T (p.Pro986Ser)
c.2659C>T (p.Pro887Ser)
c.877C>T (p.Pro293Ser)
c.2467C>T (p.Pro823Ser)
c.2191C>T (p.Pro731Ser)
c.2455C>T (p.Pro819Ser)
c.2653C>T (p.Pro885Ser)
c.3058C>T (p.Pro1020Ser)
gnomAD v4
15g.22903737G>CCA391334240CYFIP1c.2551C>G (p.Pro851Ala)
c.2557C>G (p.Pro853Ala)
c.1264C>G (p.Pro422Ala)
n.1704C>G
c.2956C>G (p.Pro986Ala)
c.2659C>G (p.Pro887Ala)
c.877C>G (p.Pro293Ala)
c.2467C>G (p.Pro823Ala)
c.2191C>G (p.Pro731Ala)
c.2455C>G (p.Pro819Ala)
c.2653C>G (p.Pro885Ala)
c.3058C>G (p.Pro1020Ala)
15g.22903737G>TCA391334241CYFIP1c.2551C>A (p.Pro851Thr)
c.2557C>A (p.Pro853Thr)
c.1264C>A (p.Pro422Thr)
n.1704C>A
c.2956C>A (p.Pro986Thr)
c.2659C>A (p.Pro887Thr)
c.877C>A (p.Pro293Thr)
c.2467C>A (p.Pro823Thr)
c.2191C>A (p.Pro731Thr)
c.2455C>A (p.Pro819Thr)
c.2653C>A (p.Pro885Thr)
c.3058C>A (p.Pro1020Thr)
15g.22903738C>ACA488526433CYFIP1c.2550G>T (p.Leu850=)
c.2556G>T (p.Leu852=)
c.1263G>T (p.Leu421=)
n.1703G>T
c.2955G>T (p.Leu985=)
c.2658G>T (p.Leu886=)
c.876G>T (p.Leu292=)
c.2466G>T (p.Leu822=)
c.2190G>T (p.Leu730=)
c.2454G>T (p.Leu818=)
c.2652G>T (p.Leu884=)
c.3057G>T (p.Leu1019=)
15g.22903738C>GCA488526431CYFIP1c.2550G>C (p.Leu850=)
c.2556G>C (p.Leu852=)
c.1263G>C (p.Leu421=)
n.1703G>C
c.2955G>C (p.Leu985=)
c.2658G>C (p.Leu886=)
c.876G>C (p.Leu292=)
c.2466G>C (p.Leu822=)
c.2190G>C (p.Leu730=)
c.2454G>C (p.Leu818=)
c.2652G>C (p.Leu884=)
c.3057G>C (p.Leu1019=)
15g.22903738C>TCA488526432CYFIP1c.2550G>A (p.Leu850=)
c.2556G>A (p.Leu852=)
c.1263G>A (p.Leu421=)
n.1703G>A
c.2955G>A (p.Leu985=)
c.2658G>A (p.Leu886=)
c.876G>A (p.Leu292=)
c.2466G>A (p.Leu822=)
c.2190G>A (p.Leu730=)
c.2454G>A (p.Leu818=)
c.2652G>A (p.Leu884=)
c.3057G>A (p.Leu1019=)
15g.22903739A>CCA391334243CYFIP1c.2549T>G (p.Leu850Arg)
c.2555T>G (p.Leu852Arg)
c.1262T>G (p.Leu421Arg)
n.1702T>G
c.2954T>G (p.Leu985Arg)
c.2657T>G (p.Leu886Arg)
c.875T>G (p.Leu292Arg)
c.2465T>G (p.Leu822Arg)
c.2189T>G (p.Leu730Arg)
c.2453T>G (p.Leu818Arg)
c.2651T>G (p.Leu884Arg)
c.3056T>G (p.Leu1019Arg)
15g.22903739A>GCA391334245CYFIP1c.2549T>C (p.Leu850Pro)
c.2555T>C (p.Leu852Pro)
c.1262T>C (p.Leu421Pro)
n.1702T>C
c.2954T>C (p.Leu985Pro)
c.2657T>C (p.Leu886Pro)
c.875T>C (p.Leu292Pro)
c.2465T>C (p.Leu822Pro)
c.2189T>C (p.Leu730Pro)
c.2453T>C (p.Leu818Pro)
c.2651T>C (p.Leu884Pro)
c.3056T>C (p.Leu1019Pro)
15g.22903739A>TCA391334247CYFIP1c.2549T>A (p.Leu850Gln)
c.2555T>A (p.Leu852Gln)
c.1262T>A (p.Leu421Gln)
n.1702T>A
c.2954T>A (p.Leu985Gln)
c.2657T>A (p.Leu886Gln)
c.875T>A (p.Leu292Gln)
c.2465T>A (p.Leu822Gln)
c.2189T>A (p.Leu730Gln)
c.2453T>A (p.Leu818Gln)
c.2651T>A (p.Leu884Gln)
c.3056T>A (p.Leu1019Gln)
15g.22903740G>ACA488526434CYFIP1c.2548C>T (p.Leu850=)
c.2554C>T (p.Leu852=)
c.1261C>T (p.Leu421=)
n.1701C>T
c.2953C>T (p.Leu985=)
c.2656C>T (p.Leu886=)
c.874C>T (p.Leu292=)
c.2464C>T (p.Leu822=)
c.2188C>T (p.Leu730=)
c.2452C>T (p.Leu818=)
c.2650C>T (p.Leu884=)
c.3055C>T (p.Leu1019=)
gnomAD v4
15g.22903740G>CCA391334249CYFIP1c.2548C>G (p.Leu850Val)
c.2554C>G (p.Leu852Val)
c.1261C>G (p.Leu421Val)
n.1701C>G
c.2953C>G (p.Leu985Val)
c.2656C>G (p.Leu886Val)
c.874C>G (p.Leu292Val)
c.2464C>G (p.Leu822Val)
c.2188C>G (p.Leu730Val)
c.2452C>G (p.Leu818Val)
c.2650C>G (p.Leu884Val)
c.3055C>G (p.Leu1019Val)
15g.22903740G>TCA391334250CYFIP1c.2548C>A (p.Leu850Met)
c.2554C>A (p.Leu852Met)
c.1261C>A (p.Leu421Met)
n.1701C>A
c.2953C>A (p.Leu985Met)
c.2656C>A (p.Leu886Met)
c.874C>A (p.Leu292Met)
c.2464C>A (p.Leu822Met)
c.2188C>A (p.Leu730Met)
c.2452C>A (p.Leu818Met)
c.2650C>A (p.Leu884Met)
c.3055C>A (p.Leu1019Met)
15g.22903741G>ACA488526435CYFIP1c.2547C>T (p.Phe849=)
c.2553C>T (p.Phe851=)
c.1260C>T (p.Phe420=)
n.1700C>T
c.2952C>T (p.Phe984=)
c.2655C>T (p.Phe885=)
c.873C>T (p.Phe291=)
c.2463C>T (p.Phe821=)
c.2187C>T (p.Phe729=)
c.2451C>T (p.Phe817=)
c.2649C>T (p.Phe883=)
c.3054C>T (p.Phe1018=)
dbSNP gnomAD v4
15g.22903741G>CCA391334251CYFIP1c.2547C>G (p.Phe849Leu)
c.2553C>G (p.Phe851Leu)
c.1260C>G (p.Phe420Leu)
n.1700C>G
c.2952C>G (p.Phe984Leu)
c.2655C>G (p.Phe885Leu)
c.873C>G (p.Phe291Leu)
c.2463C>G (p.Phe821Leu)
c.2187C>G (p.Phe729Leu)
c.2451C>G (p.Phe817Leu)
c.2649C>G (p.Phe883Leu)
c.3054C>G (p.Phe1018Leu)
15g.22903741G=CA2163977952CYFIP1c.2547C= (p.Phe849=)
c.2553C= (p.Phe851=)
c.1260C= (p.Phe420=)
n.1700C=
c.2952C= (p.Phe984=)
c.2655C= (p.Phe885=)
c.873C= (p.Phe291=)
c.2463C= (p.Phe821=)
c.2187C= (p.Phe729=)
c.2451C= (p.Phe817=)
c.2649C= (p.Phe883=)
c.3054C= (p.Phe1018=)
15g.22903741G>TCA391334253CYFIP1c.2547C>A (p.Phe849Leu)
c.2553C>A (p.Phe851Leu)
c.1260C>A (p.Phe420Leu)
n.1700C>A
c.2952C>A (p.Phe984Leu)
c.2655C>A (p.Phe885Leu)
c.873C>A (p.Phe291Leu)
c.2463C>A (p.Phe821Leu)
c.2187C>A (p.Phe729Leu)
c.2451C>A (p.Phe817Leu)
c.2649C>A (p.Phe883Leu)
c.3054C>A (p.Phe1018Leu)
15g.22903742A>CCA391334255CYFIP1c.2546T>G (p.Phe849Cys)
c.2552T>G (p.Phe851Cys)
c.1259T>G (p.Phe420Cys)
n.1699T>G
c.2951T>G (p.Phe984Cys)
c.2654T>G (p.Phe885Cys)
c.872T>G (p.Phe291Cys)
c.2462T>G (p.Phe821Cys)
c.2186T>G (p.Phe729Cys)
c.2450T>G (p.Phe817Cys)
c.2648T>G (p.Phe883Cys)
c.3053T>G (p.Phe1018Cys)
15g.22903742A>GCA391334257CYFIP1c.2546T>C (p.Phe849Ser)
c.2552T>C (p.Phe851Ser)
c.1259T>C (p.Phe420Ser)
n.1699T>C
c.2951T>C (p.Phe984Ser)
c.2654T>C (p.Phe885Ser)
c.872T>C (p.Phe291Ser)
c.2462T>C (p.Phe821Ser)
c.2186T>C (p.Phe729Ser)
c.2450T>C (p.Phe817Ser)
c.2648T>C (p.Phe883Ser)
c.3053T>C (p.Phe1018Ser)
15g.22903742A>TCA391334258CYFIP1c.2546T>A (p.Phe849Tyr)
c.2552T>A (p.Phe851Tyr)
c.1259T>A (p.Phe420Tyr)
n.1699T>A
c.2951T>A (p.Phe984Tyr)
c.2654T>A (p.Phe885Tyr)
c.872T>A (p.Phe291Tyr)
c.2462T>A (p.Phe821Tyr)
c.2186T>A (p.Phe729Tyr)
c.2450T>A (p.Phe817Tyr)
c.2648T>A (p.Phe883Tyr)
c.3053T>A (p.Phe1018Tyr)
15g.22903743A>CCA391334260CYFIP1c.2545T>G (p.Phe849Val)
c.2551T>G (p.Phe851Val)
c.1258T>G (p.Phe420Val)
n.1698T>G
c.2950T>G (p.Phe984Val)
c.2653T>G (p.Phe885Val)
c.871T>G (p.Phe291Val)
c.2461T>G (p.Phe821Val)
c.2185T>G (p.Phe729Val)
c.2449T>G (p.Phe817Val)
c.2647T>G (p.Phe883Val)
c.3052T>G (p.Phe1018Val)
15g.22903743A>GCA391334264CYFIP1c.2545T>C (p.Phe849Leu)
c.2551T>C (p.Phe851Leu)
c.1258T>C (p.Phe420Leu)
n.1698T>C
c.2950T>C (p.Phe984Leu)
c.2653T>C (p.Phe885Leu)
c.871T>C (p.Phe291Leu)
c.2461T>C (p.Phe821Leu)
c.2185T>C (p.Phe729Leu)
c.2449T>C (p.Phe817Leu)
c.2647T>C (p.Phe883Leu)
c.3052T>C (p.Phe1018Leu)
15g.22903743A>TCA391334262CYFIP1c.2545T>A (p.Phe849Ile)
c.2551T>A (p.Phe851Ile)
c.1258T>A (p.Phe420Ile)
n.1698T>A
c.2950T>A (p.Phe984Ile)
c.2653T>A (p.Phe885Ile)
c.871T>A (p.Phe291Ile)
c.2461T>A (p.Phe821Ile)
c.2185T>A (p.Phe729Ile)
c.2449T>A (p.Phe817Ile)
c.2647T>A (p.Phe883Ile)
c.3052T>A (p.Phe1018Ile)
15g.22903744G>ACA488526436CYFIP1c.2544C>T (p.Asp848=)
c.2550C>T (p.Asp850=)
c.1257C>T (p.Asp419=)
n.1697C>T
c.2949C>T (p.Asp983=)
c.2652C>T (p.Asp884=)
c.870C>T (p.Asp290=)
c.2460C>T (p.Asp820=)
c.2184C>T (p.Asp728=)
c.2448C>T (p.Asp816=)
c.2646C>T (p.Asp882=)
c.3051C>T (p.Asp1017=)
15g.22903744G>CCA391334266CYFIP1c.2544C>G (p.Asp848Glu)
c.2550C>G (p.Asp850Glu)
c.1257C>G (p.Asp419Glu)
n.1697C>G
c.2949C>G (p.Asp983Glu)
c.2652C>G (p.Asp884Glu)
c.870C>G (p.Asp290Glu)
c.2460C>G (p.Asp820Glu)
c.2184C>G (p.Asp728Glu)
c.2448C>G (p.Asp816Glu)
c.2646C>G (p.Asp882Glu)
c.3051C>G (p.Asp1017Glu)
15g.22903744G>TCA391334267CYFIP1c.2544C>A (p.Asp848Glu)
c.2550C>A (p.Asp850Glu)
c.1257C>A (p.Asp419Glu)
n.1697C>A
c.2949C>A (p.Asp983Glu)
c.2652C>A (p.Asp884Glu)
c.870C>A (p.Asp290Glu)
c.2460C>A (p.Asp820Glu)
c.2184C>A (p.Asp728Glu)
c.2448C>A (p.Asp816Glu)
c.2646C>A (p.Asp882Glu)
c.3051C>A (p.Asp1017Glu)
15g.22903745T>ACA391334270CYFIP1c.2543A>T (p.Asp848Val)
c.2549A>T (p.Asp850Val)
c.1256A>T (p.Asp419Val)
n.1696A>T
c.2948A>T (p.Asp983Val)
c.2651A>T (p.Asp884Val)
c.869A>T (p.Asp290Val)
c.2459A>T (p.Asp820Val)
c.2183A>T (p.Asp728Val)
c.2447A>T (p.Asp816Val)
c.2645A>T (p.Asp882Val)
c.3050A>T (p.Asp1017Val)
15g.22903745T>CCA391334271CYFIP1c.2543A>G (p.Asp848Gly)
c.2549A>G (p.Asp850Gly)
c.1256A>G (p.Asp419Gly)
n.1696A>G
c.2948A>G (p.Asp983Gly)
c.2651A>G (p.Asp884Gly)
c.869A>G (p.Asp290Gly)
c.2459A>G (p.Asp820Gly)
c.2183A>G (p.Asp728Gly)
c.2447A>G (p.Asp816Gly)
c.2645A>G (p.Asp882Gly)
c.3050A>G (p.Asp1017Gly)
15g.22903745T>GCA391334273CYFIP1c.2543A>C (p.Asp848Ala)
c.2549A>C (p.Asp850Ala)
c.1256A>C (p.Asp419Ala)
n.1696A>C
c.2948A>C (p.Asp983Ala)
c.2651A>C (p.Asp884Ala)
c.869A>C (p.Asp290Ala)
c.2459A>C (p.Asp820Ala)
c.2183A>C (p.Asp728Ala)
c.2447A>C (p.Asp816Ala)
c.2645A>C (p.Asp882Ala)
c.3050A>C (p.Asp1017Ala)
15g.22903746C>ACA391334275CYFIP1c.2542G>T (p.Asp848Tyr)
c.2548G>T (p.Asp850Tyr)
c.1255G>T (p.Asp419Tyr)
n.1695G>T
c.2947G>T (p.Asp983Tyr)
c.2650G>T (p.Asp884Tyr)
c.868G>T (p.Asp290Tyr)
c.2458G>T (p.Asp820Tyr)
c.2182G>T (p.Asp728Tyr)
c.2446G>T (p.Asp816Tyr)
c.2644G>T (p.Asp882Tyr)
c.3049G>T (p.Asp1017Tyr)
15g.22903746C>GCA391334277CYFIP1c.2542G>C (p.Asp848His)
c.2548G>C (p.Asp850His)
c.1255G>C (p.Asp419His)
n.1695G>C
c.2947G>C (p.Asp983His)
c.2650G>C (p.Asp884His)
c.868G>C (p.Asp290His)
c.2458G>C (p.Asp820His)
c.2182G>C (p.Asp728His)
c.2446G>C (p.Asp816His)
c.2644G>C (p.Asp882His)
c.3049G>C (p.Asp1017His)
15g.22903746C>TCA391334278CYFIP1c.2542G>A (p.Asp848Asn)
c.2548G>A (p.Asp850Asn)
c.1255G>A (p.Asp419Asn)
n.1695G>A
c.2947G>A (p.Asp983Asn)
c.2650G>A (p.Asp884Asn)
c.868G>A (p.Asp290Asn)
c.2458G>A (p.Asp820Asn)
c.2182G>A (p.Asp728Asn)
c.2446G>A (p.Asp816Asn)
c.2644G>A (p.Asp882Asn)
c.3049G>A (p.Asp1017Asn)
15g.22903747A>CCA391334281CYFIP1c.2541T>G (p.Tyr847Ter)
c.2547T>G (p.Tyr849Ter)
c.1254T>G (p.Tyr418Ter)
n.1694T>G
c.2946T>G (p.Tyr982Ter)
c.2649T>G (p.Tyr883Ter)
c.867T>G (p.Tyr289Ter)
c.2457T>G (p.Tyr819Ter)
c.2181T>G (p.Tyr727Ter)
c.2445T>G (p.Tyr815Ter)
c.2643T>G (p.Tyr881Ter)
c.3048T>G (p.Tyr1016Ter)
15g.22903747A>GCA488526437CYFIP1c.2541T>C (p.Tyr847=)
c.2547T>C (p.Tyr849=)
c.1254T>C (p.Tyr418=)
n.1694T>C
c.2946T>C (p.Tyr982=)
c.2649T>C (p.Tyr883=)
c.867T>C (p.Tyr289=)
c.2457T>C (p.Tyr819=)
c.2181T>C (p.Tyr727=)
c.2445T>C (p.Tyr815=)
c.2643T>C (p.Tyr881=)
c.3048T>C (p.Tyr1016=)
15g.22903747A>TCA391334282CYFIP1c.2541T>A (p.Tyr847Ter)
c.2547T>A (p.Tyr849Ter)
c.1254T>A (p.Tyr418Ter)
n.1694T>A
c.2946T>A (p.Tyr982Ter)
c.2649T>A (p.Tyr883Ter)
c.867T>A (p.Tyr289Ter)
c.2457T>A (p.Tyr819Ter)
c.2181T>A (p.Tyr727Ter)
c.2445T>A (p.Tyr815Ter)
c.2643T>A (p.Tyr881Ter)
c.3048T>A (p.Tyr1016Ter)
15g.22903748T>ACA391334284CYFIP1c.2540A>T (p.Tyr847Phe)
c.2546A>T (p.Tyr849Phe)
c.1253A>T (p.Tyr418Phe)
n.1693A>T
c.2945A>T (p.Tyr982Phe)
c.2648A>T (p.Tyr883Phe)
c.866A>T (p.Tyr289Phe)
c.2456A>T (p.Tyr819Phe)
c.2180A>T (p.Tyr727Phe)
c.2444A>T (p.Tyr815Phe)
c.2642A>T (p.Tyr881Phe)
c.3047A>T (p.Tyr1016Phe)
15g.22903748T>CCA391334285CYFIP1c.2540A>G (p.Tyr847Cys)
c.2546A>G (p.Tyr849Cys)
c.1253A>G (p.Tyr418Cys)
n.1693A>G
c.2945A>G (p.Tyr982Cys)
c.2648A>G (p.Tyr883Cys)
c.866A>G (p.Tyr289Cys)
c.2456A>G (p.Tyr819Cys)
c.2180A>G (p.Tyr727Cys)
c.2444A>G (p.Tyr815Cys)
c.2642A>G (p.Tyr881Cys)
c.3047A>G (p.Tyr1016Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.22903748T>GCA391334288CYFIP1c.2540A>C (p.Tyr847Ser)
c.2546A>C (p.Tyr849Ser)
c.1253A>C (p.Tyr418Ser)
n.1693A>C
c.2945A>C (p.Tyr982Ser)
c.2648A>C (p.Tyr883Ser)
c.866A>C (p.Tyr289Ser)
c.2456A>C (p.Tyr819Ser)
c.2180A>C (p.Tyr727Ser)
c.2444A>C (p.Tyr815Ser)
c.2642A>C (p.Tyr881Ser)
c.3047A>C (p.Tyr1016Ser)
15g.22903748T=CA2163977954CYFIP1c.2540A= (p.Tyr847=)
c.2546A= (p.Tyr849=)
c.1253A= (p.Tyr418=)
n.1693A=
c.2945A= (p.Tyr982=)
c.2648A= (p.Tyr883=)
c.866A= (p.Tyr289=)
c.2456A= (p.Tyr819=)
c.2180A= (p.Tyr727=)
c.2444A= (p.Tyr815=)
c.2642A= (p.Tyr881=)
c.3047A= (p.Tyr1016=)
15g.22903749A>CCA391334294CYFIP1c.2539T>G (p.Tyr847Asp)
c.2545T>G (p.Tyr849Asp)
c.1252T>G (p.Tyr418Asp)
n.1692T>G
c.2944T>G (p.Tyr982Asp)
c.2647T>G (p.Tyr883Asp)
c.865T>G (p.Tyr289Asp)
c.2455T>G (p.Tyr819Asp)
c.2179T>G (p.Tyr727Asp)
c.2443T>G (p.Tyr815Asp)
c.2641T>G (p.Tyr881Asp)
c.3046T>G (p.Tyr1016Asp)
15g.22903749A>GCA391334290CYFIP1c.2539T>C (p.Tyr847His)
c.2545T>C (p.Tyr849His)
c.1252T>C (p.Tyr418His)
n.1692T>C
c.2944T>C (p.Tyr982His)
c.2647T>C (p.Tyr883His)
c.865T>C (p.Tyr289His)
c.2455T>C (p.Tyr819His)
c.2179T>C (p.Tyr727His)
c.2443T>C (p.Tyr815His)
c.2641T>C (p.Tyr881His)
c.3046T>C (p.Tyr1016His)
15g.22903749A>TCA391334291CYFIP1c.2539T>A (p.Tyr847Asn)
c.2545T>A (p.Tyr849Asn)
c.1252T>A (p.Tyr418Asn)
n.1692T>A
c.2944T>A (p.Tyr982Asn)
c.2647T>A (p.Tyr883Asn)
c.865T>A (p.Tyr289Asn)
c.2455T>A (p.Tyr819Asn)
c.2179T>A (p.Tyr727Asn)
c.2443T>A (p.Tyr815Asn)
c.2641T>A (p.Tyr881Asn)
c.3046T>A (p.Tyr1016Asn)
15g.22903750G>ACA488526438CYFIP1c.2538C>T (p.Asn846=)
c.2544C>T (p.Asn848=)
c.1251C>T (p.Asn417=)
n.1691C>T
c.2943C>T (p.Asn981=)
c.2646C>T (p.Asn882=)
c.864C>T (p.Asn288=)
c.2454C>T (p.Asn818=)
c.2178C>T (p.Asn726=)
c.2442C>T (p.Asn814=)
c.2640C>T (p.Asn880=)
c.3045C>T (p.Asn1015=)
15g.22903750G>CCA391334296CYFIP1c.2538C>G (p.Asn846Lys)
c.2544C>G (p.Asn848Lys)
c.1251C>G (p.Asn417Lys)
n.1691C>G
c.2943C>G (p.Asn981Lys)
c.2646C>G (p.Asn882Lys)
c.864C>G (p.Asn288Lys)
c.2454C>G (p.Asn818Lys)
c.2178C>G (p.Asn726Lys)
c.2442C>G (p.Asn814Lys)
c.2640C>G (p.Asn880Lys)
c.3045C>G (p.Asn1015Lys)
15g.22903750G>TCA391334297CYFIP1c.2538C>A (p.Asn846Lys)
c.2544C>A (p.Asn848Lys)
c.1251C>A (p.Asn417Lys)
n.1691C>A
c.2943C>A (p.Asn981Lys)
c.2646C>A (p.Asn882Lys)
c.864C>A (p.Asn288Lys)
c.2454C>A (p.Asn818Lys)
c.2178C>A (p.Asn726Lys)
c.2442C>A (p.Asn814Lys)
c.2640C>A (p.Asn880Lys)
c.3045C>A (p.Asn1015Lys)
15g.22903751T>ACA391334299CYFIP1c.2537A>T (p.Asn846Ile)
c.2543A>T (p.Asn848Ile)
c.1250A>T (p.Asn417Ile)
n.1690A>T
c.2942A>T (p.Asn981Ile)
c.2645A>T (p.Asn882Ile)
c.863A>T (p.Asn288Ile)
c.2453A>T (p.Asn818Ile)
c.2177A>T (p.Asn726Ile)
c.2441A>T (p.Asn814Ile)
c.2639A>T (p.Asn880Ile)
c.3044A>T (p.Asn1015Ile)
15g.22903751T>CCA391334300CYFIP1c.2537A>G (p.Asn846Ser)
c.2543A>G (p.Asn848Ser)
c.1250A>G (p.Asn417Ser)
n.1690A>G
c.2942A>G (p.Asn981Ser)
c.2645A>G (p.Asn882Ser)
c.863A>G (p.Asn288Ser)
c.2453A>G (p.Asn818Ser)
c.2177A>G (p.Asn726Ser)
c.2441A>G (p.Asn814Ser)
c.2639A>G (p.Asn880Ser)
c.3044A>G (p.Asn1015Ser)
gnomAD v4
15g.22903751T>GCA391334301CYFIP1c.2537A>C (p.Asn846Thr)
c.2543A>C (p.Asn848Thr)
c.1250A>C (p.Asn417Thr)
n.1690A>C
c.2942A>C (p.Asn981Thr)
c.2645A>C (p.Asn882Thr)
c.863A>C (p.Asn288Thr)
c.2453A>C (p.Asn818Thr)
c.2177A>C (p.Asn726Thr)
c.2441A>C (p.Asn814Thr)
c.2639A>C (p.Asn880Thr)
c.3044A>C (p.Asn1015Thr)
15g.22903752T>ACA391334302CYFIP1c.2536A>T (p.Asn846Tyr)
c.2542A>T (p.Asn848Tyr)
c.1249A>T (p.Asn417Tyr)
n.1689A>T
c.2941A>T (p.Asn981Tyr)
c.2644A>T (p.Asn882Tyr)
c.862A>T (p.Asn288Tyr)
c.2452A>T (p.Asn818Tyr)
c.2176A>T (p.Asn726Tyr)
c.2440A>T (p.Asn814Tyr)
c.2638A>T (p.Asn880Tyr)
c.3043A>T (p.Asn1015Tyr)
15g.22903752T>CCA391334304CYFIP1c.2536A>G (p.Asn846Asp)
c.2542A>G (p.Asn848Asp)
c.1249A>G (p.Asn417Asp)
n.1689A>G
c.2941A>G (p.Asn981Asp)
c.2644A>G (p.Asn882Asp)
c.862A>G (p.Asn288Asp)
c.2452A>G (p.Asn818Asp)
c.2176A>G (p.Asn726Asp)
c.2440A>G (p.Asn814Asp)
c.2638A>G (p.Asn880Asp)
c.3043A>G (p.Asn1015Asp)
15g.22903752T>GCA391334305CYFIP1c.2536A>C (p.Asn846His)
c.2542A>C (p.Asn848His)
c.1249A>C (p.Asn417His)
n.1689A>C
c.2941A>C (p.Asn981His)
c.2644A>C (p.Asn882His)
c.862A>C (p.Asn288His)
c.2452A>C (p.Asn818His)
c.2176A>C (p.Asn726His)
c.2440A>C (p.Asn814His)
c.2638A>C (p.Asn880His)
c.3043A>C (p.Asn1015His)
15g.22903753G>ACA488526440CYFIP1c.2535C>T (p.Leu845=)
c.2541C>T (p.Leu847=)
c.1248C>T (p.Leu416=)
n.1688C>T
c.2940C>T (p.Leu980=)
c.2643C>T (p.Leu881=)
c.861C>T (p.Leu287=)
c.2451C>T (p.Leu817=)
c.2175C>T (p.Leu725=)
c.2439C>T (p.Leu813=)
c.2637C>T (p.Leu879=)
c.3042C>T (p.Leu1014=)
15g.22903753G>CCA488526441CYFIP1c.2535C>G (p.Leu845=)
c.2541C>G (p.Leu847=)
c.1248C>G (p.Leu416=)
n.1688C>G
c.2940C>G (p.Leu980=)
c.2643C>G (p.Leu881=)
c.861C>G (p.Leu287=)
c.2451C>G (p.Leu817=)
c.2175C>G (p.Leu725=)
c.2439C>G (p.Leu813=)
c.2637C>G (p.Leu879=)
c.3042C>G (p.Leu1014=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.22903753G=CA2163977958CYFIP1c.2535C= (p.Leu845=)
c.2541C= (p.Leu847=)
c.1248C= (p.Leu416=)
n.1688C=
c.2940C= (p.Leu980=)
c.2643C= (p.Leu881=)
c.861C= (p.Leu287=)
c.2451C= (p.Leu817=)
c.2175C= (p.Leu725=)
c.2439C= (p.Leu813=)
c.2637C= (p.Leu879=)
c.3042C= (p.Leu1014=)
15g.22903753G>TCA488526439CYFIP1c.2535C>A (p.Leu845=)
c.2541C>A (p.Leu847=)
c.1248C>A (p.Leu416=)
n.1688C>A
c.2940C>A (p.Leu980=)
c.2643C>A (p.Leu881=)
c.861C>A (p.Leu287=)
c.2451C>A (p.Leu817=)
c.2175C>A (p.Leu725=)
c.2439C>A (p.Leu813=)
c.2637C>A (p.Leu879=)
c.3042C>A (p.Leu1014=)
15g.22903754A>CCA391334308CYFIP1c.2534T>G (p.Leu845Arg)
c.2540T>G (p.Leu847Arg)
c.1247T>G (p.Leu416Arg)
n.1687T>G
c.2939T>G (p.Leu980Arg)
c.2642T>G (p.Leu881Arg)
c.860T>G (p.Leu287Arg)
c.2450T>G (p.Leu817Arg)
c.2174T>G (p.Leu725Arg)
c.2438T>G (p.Leu813Arg)
c.2636T>G (p.Leu879Arg)
c.3041T>G (p.Leu1014Arg)
15g.22903754A>GCA391334310CYFIP1c.2534T>C (p.Leu845Pro)
c.2540T>C (p.Leu847Pro)
c.1247T>C (p.Leu416Pro)
n.1687T>C
c.2939T>C (p.Leu980Pro)
c.2642T>C (p.Leu881Pro)
c.860T>C (p.Leu287Pro)
c.2450T>C (p.Leu817Pro)
c.2174T>C (p.Leu725Pro)
c.2438T>C (p.Leu813Pro)
c.2636T>C (p.Leu879Pro)
c.3041T>C (p.Leu1014Pro)
gnomAD v4
15g.22903754A>TCA391334311CYFIP1c.2534T>A (p.Leu845His)
c.2540T>A (p.Leu847His)
c.1247T>A (p.Leu416His)
n.1687T>A
c.2939T>A (p.Leu980His)
c.2642T>A (p.Leu881His)
c.860T>A (p.Leu287His)
c.2450T>A (p.Leu817His)
c.2174T>A (p.Leu725His)
c.2438T>A (p.Leu813His)
c.2636T>A (p.Leu879His)
c.3041T>A (p.Leu1014His)
15g.22903755G>ACA391334315CYFIP1c.2533C>T (p.Leu845Phe)
c.2539C>T (p.Leu847Phe)
c.1246C>T (p.Leu416Phe)
n.1686C>T
c.2938C>T (p.Leu980Phe)
c.2641C>T (p.Leu881Phe)
c.859C>T (p.Leu287Phe)
c.2449C>T (p.Leu817Phe)
c.2173C>T (p.Leu725Phe)
c.2437C>T (p.Leu813Phe)
c.2635C>T (p.Leu879Phe)
c.3040C>T (p.Leu1014Phe)
dbSNP gnomAD v3 gnomAD v4
15g.22903755G>CCA391334314CYFIP1c.2533C>G (p.Leu845Val)
c.2539C>G (p.Leu847Val)
c.1246C>G (p.Leu416Val)
n.1686C>G
c.2938C>G (p.Leu980Val)
c.2641C>G (p.Leu881Val)
c.859C>G (p.Leu287Val)
c.2449C>G (p.Leu817Val)
c.2173C>G (p.Leu725Val)
c.2437C>G (p.Leu813Val)
c.2635C>G (p.Leu879Val)
c.3040C>G (p.Leu1014Val)
15g.22903755G=CA2163977962CYFIP1c.2533C= (p.Leu845=)
c.2539C= (p.Leu847=)
c.1246C= (p.Leu416=)
n.1686C=
c.2938C= (p.Leu980=)
c.2641C= (p.Leu881=)
c.859C= (p.Leu287=)
c.2449C= (p.Leu817=)
c.2173C= (p.Leu725=)
c.2437C= (p.Leu813=)
c.2635C= (p.Leu879=)
c.3040C= (p.Leu1014=)
15g.22903755G>TCA391334313CYFIP1c.2533C>A (p.Leu845Ile)
c.2539C>A (p.Leu847Ile)
c.1246C>A (p.Leu416Ile)
n.1686C>A
c.2938C>A (p.Leu980Ile)
c.2641C>A (p.Leu881Ile)
c.859C>A (p.Leu287Ile)
c.2449C>A (p.Leu817Ile)
c.2173C>A (p.Leu725Ile)
c.2437C>A (p.Leu813Ile)
c.2635C>A (p.Leu879Ile)
c.3040C>A (p.Leu1014Ile)
15g.22903756C>ACA391334317CYFIP1c.2532G>T (p.Glu844Asp)
c.2538G>T (p.Glu846Asp)
c.1245G>T (p.Glu415Asp)
n.1685G>T
c.2937G>T (p.Glu979Asp)
c.2640G>T (p.Glu880Asp)
c.858G>T (p.Glu286Asp)
c.2448G>T (p.Glu816Asp)
c.2172G>T (p.Glu724Asp)
c.2436G>T (p.Glu812Asp)
c.2634G>T (p.Glu878Asp)
c.3039G>T (p.Glu1013Asp)
15g.22903756C>GCA391334318CYFIP1c.2532G>C (p.Glu844Asp)
c.2538G>C (p.Glu846Asp)
c.1245G>C (p.Glu415Asp)
n.1685G>C
c.2937G>C (p.Glu979Asp)
c.2640G>C (p.Glu880Asp)
c.858G>C (p.Glu286Asp)
c.2448G>C (p.Glu816Asp)
c.2172G>C (p.Glu724Asp)
c.2436G>C (p.Glu812Asp)
c.2634G>C (p.Glu878Asp)
c.3039G>C (p.Glu1013Asp)
15g.22903756C>TCA488526442CYFIP1c.2532G>A (p.Glu844=)
c.2538G>A (p.Glu846=)
c.1245G>A (p.Glu415=)
n.1685G>A
c.2937G>A (p.Glu979=)
c.2640G>A (p.Glu880=)
c.858G>A (p.Glu286=)
c.2448G>A (p.Glu816=)
c.2172G>A (p.Glu724=)
c.2436G>A (p.Glu812=)
c.2634G>A (p.Glu878=)
c.3039G>A (p.Glu1013=)
15g.22903757T>ACA391334320CYFIP1c.2531A>T (p.Glu844Val)
c.2537A>T (p.Glu846Val)
c.1244A>T (p.Glu415Val)
n.1684A>T
c.2936A>T (p.Glu979Val)
c.2639A>T (p.Glu880Val)
c.857A>T (p.Glu286Val)
c.2447A>T (p.Glu816Val)
c.2171A>T (p.Glu724Val)
c.2435A>T (p.Glu812Val)
c.2633A>T (p.Glu878Val)
c.3038A>T (p.Glu1013Val)
15g.22903757T>CCA391334324CYFIP1c.2531A>G (p.Glu844Gly)
c.2537A>G (p.Glu846Gly)
c.1244A>G (p.Glu415Gly)
n.1684A>G
c.2936A>G (p.Glu979Gly)
c.2639A>G (p.Glu880Gly)
c.857A>G (p.Glu286Gly)
c.2447A>G (p.Glu816Gly)
c.2171A>G (p.Glu724Gly)
c.2435A>G (p.Glu812Gly)
c.2633A>G (p.Glu878Gly)
c.3038A>G (p.Glu1013Gly)
15g.22903757T>GCA391334322CYFIP1c.2531A>C (p.Glu844Ala)
c.2537A>C (p.Glu846Ala)
c.1244A>C (p.Glu415Ala)
n.1684A>C
c.2936A>C (p.Glu979Ala)
c.2639A>C (p.Glu880Ala)
c.857A>C (p.Glu286Ala)
c.2447A>C (p.Glu816Ala)
c.2171A>C (p.Glu724Ala)
c.2435A>C (p.Glu812Ala)
c.2633A>C (p.Glu878Ala)
c.3038A>C (p.Glu1013Ala)
15g.22903758C>ACA391334327CYFIP1c.2530G>T (p.Glu844Ter)
c.2536G>T (p.Glu846Ter)
c.1243G>T (p.Glu415Ter)
n.929G>T
n.1683G>T
c.2935G>T (p.Glu979Ter)
c.2638G>T (p.Glu880Ter)
c.856G>T (p.Glu286Ter)
c.2446G>T (p.Glu816Ter)
c.2170G>T (p.Glu724Ter)
c.2434G>T (p.Glu812Ter)
c.2632G>T (p.Glu878Ter)
c.3037G>T (p.Glu1013Ter)
15g.22903758C>GCA391334329CYFIP1c.2530G>C (p.Glu844Gln)
c.2536G>C (p.Glu846Gln)
c.1243G>C (p.Glu415Gln)
n.929G>C
n.1683G>C
c.2935G>C (p.Glu979Gln)
c.2638G>C (p.Glu880Gln)
c.856G>C (p.Glu286Gln)
c.2446G>C (p.Glu816Gln)
c.2170G>C (p.Glu724Gln)
c.2434G>C (p.Glu812Gln)
c.2632G>C (p.Glu878Gln)
c.3037G>C (p.Glu1013Gln)
15g.22903758C>TCA391334328CYFIP1c.2530G>A (p.Glu844Lys)
c.2536G>A (p.Glu846Lys)
c.1243G>A (p.Glu415Lys)
n.929G>A
n.1683G>A
c.2935G>A (p.Glu979Lys)
c.2638G>A (p.Glu880Lys)
c.856G>A (p.Glu286Lys)
c.2446G>A (p.Glu816Lys)
c.2170G>A (p.Glu724Lys)
c.2434G>A (p.Glu812Lys)
c.2632G>A (p.Glu878Lys)
c.3037G>A (p.Glu1013Lys)
15g.22903759C>ACA391334331CYFIP1c.2529G>T (p.Trp843Cys)
c.2535G>T (p.Trp845Cys)
c.1242G>T (p.Trp414Cys)
n.928G>T
n.1682G>T
c.2934G>T (p.Trp978Cys)
c.2637G>T (p.Trp879Cys)
c.855G>T (p.Trp285Cys)
c.2445G>T (p.Trp815Cys)
c.2169G>T (p.Trp723Cys)
c.2433G>T (p.Trp811Cys)
c.2631G>T (p.Trp877Cys)
c.3036G>T (p.Trp1012Cys)
15g.22903759C>GCA391334333CYFIP1c.2529G>C (p.Trp843Cys)
c.2535G>C (p.Trp845Cys)
c.1242G>C (p.Trp414Cys)
n.928G>C
n.1682G>C
c.2934G>C (p.Trp978Cys)
c.2637G>C (p.Trp879Cys)
c.855G>C (p.Trp285Cys)
c.2445G>C (p.Trp815Cys)
c.2169G>C (p.Trp723Cys)
c.2433G>C (p.Trp811Cys)
c.2631G>C (p.Trp877Cys)
c.3036G>C (p.Trp1012Cys)
15g.22903759C>TCA391334335CYFIP1c.2529G>A (p.Trp843Ter)
c.2535G>A (p.Trp845Ter)
c.1242G>A (p.Trp414Ter)
n.928G>A
n.1682G>A
c.2934G>A (p.Trp978Ter)
c.2637G>A (p.Trp879Ter)
c.855G>A (p.Trp285Ter)
c.2445G>A (p.Trp815Ter)
c.2169G>A (p.Trp723Ter)
c.2433G>A (p.Trp811Ter)
c.2631G>A (p.Trp877Ter)
c.3036G>A (p.Trp1012Ter)
15g.22903760C>ACA391334337CYFIP1c.2528G>T (p.Trp843Leu)
c.2534G>T (p.Trp845Leu)
c.1241G>T (p.Trp414Leu)
n.927G>T
n.1681G>T
c.2933G>T (p.Trp978Leu)
c.2636G>T (p.Trp879Leu)
c.854G>T (p.Trp285Leu)
c.2444G>T (p.Trp815Leu)
c.2168G>T (p.Trp723Leu)
c.2432G>T (p.Trp811Leu)
c.2630G>T (p.Trp877Leu)
c.3035G>T (p.Trp1012Leu)
15g.22903760C>GCA391334340CYFIP1c.2528G>C (p.Trp843Ser)
c.2534G>C (p.Trp845Ser)
c.1241G>C (p.Trp414Ser)
n.927G>C
n.1681G>C
c.2933G>C (p.Trp978Ser)
c.2636G>C (p.Trp879Ser)
c.854G>C (p.Trp285Ser)
c.2444G>C (p.Trp815Ser)
c.2168G>C (p.Trp723Ser)
c.2432G>C (p.Trp811Ser)
c.2630G>C (p.Trp877Ser)
c.3035G>C (p.Trp1012Ser)
15g.22903760C>TCA391334341CYFIP1c.2528G>A (p.Trp843Ter)
c.2534G>A (p.Trp845Ter)
c.1241G>A (p.Trp414Ter)
n.927G>A
n.1681G>A
c.2933G>A (p.Trp978Ter)
c.2636G>A (p.Trp879Ter)
c.854G>A (p.Trp285Ter)
c.2444G>A (p.Trp815Ter)
c.2168G>A (p.Trp723Ter)
c.2432G>A (p.Trp811Ter)
c.2630G>A (p.Trp877Ter)
c.3035G>A (p.Trp1012Ter)
15g.22903760_22903763delinsCAGACA2163977965CYFIP1c.2525_2528delinsTCTG (p.Phe842=)
c.2531_2534delinsTCTG (p.Phe844=)
c.1238_1241delinsTCTG (p.Phe413=)
n.924_927delinsTCTG
n.1678_1681delinsTCTG
c.2930_2933delinsTCTG (p.Phe977=)
c.2633_2636delinsTCTG (p.Phe878=)
c.851_854delinsTCTG (p.Phe284=)
c.2441_2444delinsTCTG (p.Phe814=)
c.2165_2168delinsTCTG (p.Phe722=)
c.2429_2432delinsTCTG (p.Phe810=)
c.2627_2630delinsTCTG (p.Phe876=)
c.3032_3035delinsTCTG (p.Phe1011=)
15g.22903761A>CCA391334343CYFIP1c.2527T>G (p.Trp843Gly)
c.2533T>G (p.Trp845Gly)
c.1240T>G (p.Trp414Gly)
n.926T>G
n.1680T>G
c.2932T>G (p.Trp978Gly)
c.2635T>G (p.Trp879Gly)
c.853T>G (p.Trp285Gly)
c.2443T>G (p.Trp815Gly)
c.2167T>G (p.Trp723Gly)
c.2431T>G (p.Trp811Gly)
c.2629T>G (p.Trp877Gly)
c.3034T>G (p.Trp1012Gly)
15g.22903761A>GCA391334344CYFIP1c.2527T>C (p.Trp843Arg)
c.2533T>C (p.Trp845Arg)
c.1240T>C (p.Trp414Arg)
n.926T>C
n.1680T>C
c.2932T>C (p.Trp978Arg)
c.2635T>C (p.Trp879Arg)
c.853T>C (p.Trp285Arg)
c.2443T>C (p.Trp815Arg)
c.2167T>C (p.Trp723Arg)
c.2431T>C (p.Trp811Arg)
c.2629T>C (p.Trp877Arg)
c.3034T>C (p.Trp1012Arg)
15g.22903761A>TCA391334348CYFIP1c.2527T>A (p.Trp843Arg)
c.2533T>A (p.Trp845Arg)
c.1240T>A (p.Trp414Arg)
n.926T>A
n.1680T>A
c.2932T>A (p.Trp978Arg)
c.2635T>A (p.Trp879Arg)
c.853T>A (p.Trp285Arg)
c.2443T>A (p.Trp815Arg)
c.2167T>A (p.Trp723Arg)
c.2431T>A (p.Trp811Arg)
c.2629T>A (p.Trp877Arg)
c.3034T>A (p.Trp1012Arg)
15g.22903764_22903766delCA711269907CYFIP1c.2525_2527del (p.Phe842del)
c.2531_2533del (p.Phe844del)
c.1238_1240del (p.Phe413del)
n.924_926del
n.1678_1680del
c.2930_2932del (p.Phe977del)
c.2633_2635del (p.Phe878del)
c.851_853del (p.Phe284del)
c.2441_2443del (p.Phe814del)
c.2165_2167del (p.Phe722del)
c.2429_2431del (p.Phe810del)
c.2627_2629del (p.Phe876del)
c.3032_3034del (p.Phe1011del)
dbSNP gnomAD v3 gnomAD v4
15g.22903762G>ACA488526443CYFIP1c.2526C>T (p.Phe842=)
c.2532C>T (p.Phe844=)
c.1239C>T (p.Phe413=)
n.925C>T
n.1679C>T
c.2931C>T (p.Phe977=)
c.2634C>T (p.Phe878=)
c.852C>T (p.Phe284=)
c.2442C>T (p.Phe814=)
c.2166C>T (p.Phe722=)
c.2430C>T (p.Phe810=)
c.2628C>T (p.Phe876=)
c.3033C>T (p.Phe1011=)
15g.22903762G>CCA391334350CYFIP1c.2526C>G (p.Phe842Leu)
c.2532C>G (p.Phe844Leu)
c.1239C>G (p.Phe413Leu)
n.925C>G
n.1679C>G
c.2931C>G (p.Phe977Leu)
c.2634C>G (p.Phe878Leu)
c.852C>G (p.Phe284Leu)
c.2442C>G (p.Phe814Leu)
c.2166C>G (p.Phe722Leu)
c.2430C>G (p.Phe810Leu)
c.2628C>G (p.Phe876Leu)
c.3033C>G (p.Phe1011Leu)
15g.22903762G>TCA391334352CYFIP1c.2526C>A (p.Phe842Leu)
c.2532C>A (p.Phe844Leu)
c.1239C>A (p.Phe413Leu)
n.925C>A
n.1679C>A
c.2931C>A (p.Phe977Leu)
c.2634C>A (p.Phe878Leu)
c.852C>A (p.Phe284Leu)
c.2442C>A (p.Phe814Leu)
c.2166C>A (p.Phe722Leu)
c.2430C>A (p.Phe810Leu)
c.2628C>A (p.Phe876Leu)
c.3033C>A (p.Phe1011Leu)
15g.22903763A>CCA391334357CYFIP1c.2525T>G (p.Phe842Cys)
c.2531T>G (p.Phe844Cys)
c.1238T>G (p.Phe413Cys)
n.924T>G
n.1678T>G
c.2930T>G (p.Phe977Cys)
c.2633T>G (p.Phe878Cys)
c.851T>G (p.Phe284Cys)
c.2441T>G (p.Phe814Cys)
c.2165T>G (p.Phe722Cys)
c.2429T>G (p.Phe810Cys)
c.2627T>G (p.Phe876Cys)
c.3032T>G (p.Phe1011Cys)
15g.22903763A>GCA391334355CYFIP1c.2525T>C (p.Phe842Ser)
c.2531T>C (p.Phe844Ser)
c.1238T>C (p.Phe413Ser)
n.924T>C
n.1678T>C
c.2930T>C (p.Phe977Ser)
c.2633T>C (p.Phe878Ser)
c.851T>C (p.Phe284Ser)
c.2441T>C (p.Phe814Ser)
c.2165T>C (p.Phe722Ser)
c.2429T>C (p.Phe810Ser)
c.2627T>C (p.Phe876Ser)
c.3032T>C (p.Phe1011Ser)
15g.22903763A>TCA391334353CYFIP1c.2525T>A (p.Phe842Tyr)
c.2531T>A (p.Phe844Tyr)
c.1238T>A (p.Phe413Tyr)
n.924T>A
n.1678T>A
c.2930T>A (p.Phe977Tyr)
c.2633T>A (p.Phe878Tyr)
c.851T>A (p.Phe284Tyr)
c.2441T>A (p.Phe814Tyr)
c.2165T>A (p.Phe722Tyr)
c.2429T>A (p.Phe810Tyr)
c.2627T>A (p.Phe876Tyr)
c.3032T>A (p.Phe1011Tyr)
15g.22903764A>CCA391334359CYFIP1c.2524T>G (p.Phe842Val)
c.2530T>G (p.Phe844Val)
c.1237T>G (p.Phe413Val)
n.923T>G
n.1677T>G
c.2929T>G (p.Phe977Val)
c.2632T>G (p.Phe878Val)
c.850T>G (p.Phe284Val)
c.2440T>G (p.Phe814Val)
c.2164T>G (p.Phe722Val)
c.2428T>G (p.Phe810Val)
c.2626T>G (p.Phe876Val)
c.3031T>G (p.Phe1011Val)
15g.22903764A>GCA391334361CYFIP1c.2524T>C (p.Phe842Leu)
c.2530T>C (p.Phe844Leu)
c.1237T>C (p.Phe413Leu)
n.923T>C
n.1677T>C
c.2929T>C (p.Phe977Leu)
c.2632T>C (p.Phe878Leu)
c.850T>C (p.Phe284Leu)
c.2440T>C (p.Phe814Leu)
c.2164T>C (p.Phe722Leu)
c.2428T>C (p.Phe810Leu)
c.2626T>C (p.Phe876Leu)
c.3031T>C (p.Phe1011Leu)
15g.22903764A>TCA391334362CYFIP1c.2524T>A (p.Phe842Ile)
c.2530T>A (p.Phe844Ile)
c.1237T>A (p.Phe413Ile)
n.923T>A
n.1677T>A
c.2929T>A (p.Phe977Ile)
c.2632T>A (p.Phe878Ile)
c.850T>A (p.Phe284Ile)
c.2440T>A (p.Phe814Ile)
c.2164T>A (p.Phe722Ile)
c.2428T>A (p.Phe810Ile)
c.2626T>A (p.Phe876Ile)
c.3031T>A (p.Phe1011Ile)
15g.22903765G>ACA7425124CYFIP1c.2523C>T (p.Val841=)
c.2529C>T (p.Val843=)
c.1236C>T (p.Val412=)
n.922C>T
n.1676C>T
c.2928C>T (p.Val976=)
c.2631C>T (p.Val877=)
c.849C>T (p.Val283=)
c.2439C>T (p.Val813=)
c.2163C>T (p.Val721=)
c.2427C>T (p.Val809=)
c.2625C>T (p.Val875=)
c.3030C>T (p.Val1010=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903765G>CCA488526444CYFIP1c.2523C>G (p.Val841=)
c.2529C>G (p.Val843=)
c.1236C>G (p.Val412=)
n.922C>G
n.1676C>G
c.2928C>G (p.Val976=)
c.2631C>G (p.Val877=)
c.849C>G (p.Val283=)
c.2439C>G (p.Val813=)
c.2163C>G (p.Val721=)
c.2427C>G (p.Val809=)
c.2625C>G (p.Val875=)
c.3030C>G (p.Val1010=)
15g.22903765G=CA2163977968CYFIP1c.2523C= (p.Val841=)
c.2529C= (p.Val843=)
c.1236C= (p.Val412=)
n.922C=
n.1676C=
c.2928C= (p.Val976=)
c.2631C= (p.Val877=)
c.849C= (p.Val283=)
c.2439C= (p.Val813=)
c.2163C= (p.Val721=)
c.2427C= (p.Val809=)
c.2625C= (p.Val875=)
c.3030C= (p.Val1010=)
15g.22903765G>TCA7425123CYFIP1c.2523C>A (p.Val841=)
c.2529C>A (p.Val843=)
c.1236C>A (p.Val412=)
n.922C>A
n.1676C>A
c.2928C>A (p.Val976=)
c.2631C>A (p.Val877=)
c.849C>A (p.Val283=)
c.2439C>A (p.Val813=)
c.2163C>A (p.Val721=)
c.2427C>A (p.Val809=)
c.2625C>A (p.Val875=)
c.3030C>A (p.Val1010=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.22903766A>CCA391334366CYFIP1c.2522T>G (p.Val841Gly)
c.2528T>G (p.Val843Gly)
c.1235T>G (p.Val412Gly)
n.921T>G
n.1675T>G
c.2927T>G (p.Val976Gly)
c.2630T>G (p.Val877Gly)
c.848T>G (p.Val283Gly)
c.2438T>G (p.Val813Gly)
c.2162T>G (p.Val721Gly)
c.2426T>G (p.Val809Gly)
c.2624T>G (p.Val875Gly)
c.3029T>G (p.Val1010Gly)
15g.22903766A>GCA391334367CYFIP1c.2522T>C (p.Val841Ala)
c.2528T>C (p.Val843Ala)
c.1235T>C (p.Val412Ala)
n.921T>C
n.1675T>C
c.2927T>C (p.Val976Ala)
c.2630T>C (p.Val877Ala)
c.848T>C (p.Val283Ala)
c.2438T>C (p.Val813Ala)
c.2162T>C (p.Val721Ala)
c.2426T>C (p.Val809Ala)
c.2624T>C (p.Val875Ala)
c.3029T>C (p.Val1010Ala)
15g.22903766A>TCA391334369CYFIP1c.2522T>A (p.Val841Asp)
c.2528T>A (p.Val843Asp)
c.1235T>A (p.Val412Asp)
n.921T>A
n.1675T>A
c.2927T>A (p.Val976Asp)
c.2630T>A (p.Val877Asp)
c.848T>A (p.Val283Asp)
c.2438T>A (p.Val813Asp)
c.2162T>A (p.Val721Asp)
c.2426T>A (p.Val809Asp)
c.2624T>A (p.Val875Asp)
c.3029T>A (p.Val1010Asp)
15g.22903767C>ACA391334370CYFIP1c.2521G>T (p.Val841Phe)
c.2527G>T (p.Val843Phe)
c.1234G>T (p.Val412Phe)
n.920G>T
n.1674G>T
c.2926G>T (p.Val976Phe)
c.2629G>T (p.Val877Phe)
c.847G>T (p.Val283Phe)
c.2437G>T (p.Val813Phe)
c.2161G>T (p.Val721Phe)
c.2425G>T (p.Val809Phe)
c.2623G>T (p.Val875Phe)
c.3028G>T (p.Val1010Phe)
15g.22903767C=CA2163977971CYFIP1c.2521G= (p.Val841=)
c.2527G= (p.Val843=)
c.1234G= (p.Val412=)
n.920G=
n.1674G=
c.2926G= (p.Val976=)
c.2629G= (p.Val877=)
c.847G= (p.Val283=)
c.2437G= (p.Val813=)
c.2161G= (p.Val721=)
c.2425G= (p.Val809=)
c.2623G= (p.Val875=)
c.3028G= (p.Val1010=)
15g.22903767C>GCA391334371CYFIP1c.2521G>C (p.Val841Leu)
c.2527G>C (p.Val843Leu)
c.1234G>C (p.Val412Leu)
n.920G>C
n.1674G>C
c.2926G>C (p.Val976Leu)
c.2629G>C (p.Val877Leu)
c.847G>C (p.Val283Leu)
c.2437G>C (p.Val813Leu)
c.2161G>C (p.Val721Leu)
c.2425G>C (p.Val809Leu)
c.2623G>C (p.Val875Leu)
c.3028G>C (p.Val1010Leu)
15g.22903767C>TCA7425122CYFIP1c.2521G>A (p.Val841Ile)
c.2527G>A (p.Val843Ile)
c.1234G>A (p.Val412Ile)
n.920G>A
n.1674G>A
c.2926G>A (p.Val976Ile)
c.2629G>A (p.Val877Ile)
c.847G>A (p.Val283Ile)
c.2437G>A (p.Val813Ile)
c.2161G>A (p.Val721Ile)
c.2425G>A (p.Val809Ile)
c.2623G>A (p.Val875Ile)
c.3028G>A (p.Val1010Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903768G>ACA7425121CYFIP1c.2520C>T (p.His840=)
c.2526C>T (p.His842=)
c.1233C>T (p.His411=)
n.919C>T
n.1673C>T
c.2925C>T (p.His975=)
c.2628C>T (p.His876=)
c.846C>T (p.His282=)
c.2436C>T (p.His812=)
c.2160C>T (p.His720=)
c.2424C>T (p.His808=)
c.2622C>T (p.His874=)
c.3027C>T (p.His1009=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903768G>CCA391334375CYFIP1c.2520C>G (p.His840Gln)
c.2526C>G (p.His842Gln)
c.1233C>G (p.His411Gln)
n.919C>G
n.1673C>G
c.2925C>G (p.His975Gln)
c.2628C>G (p.His876Gln)
c.846C>G (p.His282Gln)
c.2436C>G (p.His812Gln)
c.2160C>G (p.His720Gln)
c.2424C>G (p.His808Gln)
c.2622C>G (p.His874Gln)
c.3027C>G (p.His1009Gln)
15g.22903768G=CA2163977976CYFIP1c.2520C= (p.His840=)
c.2526C= (p.His842=)
c.1233C= (p.His411=)
n.919C=
n.1673C=
c.2925C= (p.His975=)
c.2628C= (p.His876=)
c.846C= (p.His282=)
c.2436C= (p.His812=)
c.2160C= (p.His720=)
c.2424C= (p.His808=)
c.2622C= (p.His874=)
c.3027C= (p.His1009=)
15g.22903768G>TCA391334373CYFIP1c.2520C>A (p.His840Gln)
c.2526C>A (p.His842Gln)
c.1233C>A (p.His411Gln)
n.919C>A
n.1673C>A
c.2925C>A (p.His975Gln)
c.2628C>A (p.His876Gln)
c.846C>A (p.His282Gln)
c.2436C>A (p.His812Gln)
c.2160C>A (p.His720Gln)
c.2424C>A (p.His808Gln)
c.2622C>A (p.His874Gln)
c.3027C>A (p.His1009Gln)
15g.22903769T>ACA391334378CYFIP1c.2519A>T (p.His840Leu)
c.2525A>T (p.His842Leu)
c.1232A>T (p.His411Leu)
n.918A>T
n.1672A>T
c.2924A>T (p.His975Leu)
c.2627A>T (p.His876Leu)
c.845A>T (p.His282Leu)
c.2435A>T (p.His812Leu)
c.2159A>T (p.His720Leu)
c.2423A>T (p.His808Leu)
c.2621A>T (p.His874Leu)
c.3026A>T (p.His1009Leu)
15g.22903769T>CCA391334380CYFIP1c.2519A>G (p.His840Arg)
c.2525A>G (p.His842Arg)
c.1232A>G (p.His411Arg)
n.918A>G
n.1672A>G
c.2924A>G (p.His975Arg)
c.2627A>G (p.His876Arg)
c.845A>G (p.His282Arg)
c.2435A>G (p.His812Arg)
c.2159A>G (p.His720Arg)
c.2423A>G (p.His808Arg)
c.2621A>G (p.His874Arg)
c.3026A>G (p.His1009Arg)
15g.22903769T>GCA391334382CYFIP1c.2519A>C (p.His840Pro)
c.2525A>C (p.His842Pro)
c.1232A>C (p.His411Pro)
n.918A>C
n.1672A>C
c.2924A>C (p.His975Pro)
c.2627A>C (p.His876Pro)
c.845A>C (p.His282Pro)
c.2435A>C (p.His812Pro)
c.2159A>C (p.His720Pro)
c.2423A>C (p.His808Pro)
c.2621A>C (p.His874Pro)
c.3026A>C (p.His1009Pro)
15g.22903770G>ACA391334383CYFIP1c.2518C>T (p.His840Tyr)
c.2524C>T (p.His842Tyr)
c.1231C>T (p.His411Tyr)
n.917C>T
n.1671C>T
c.2923C>T (p.His975Tyr)
c.2626C>T (p.His876Tyr)
c.844C>T (p.His282Tyr)
c.2434C>T (p.His812Tyr)
c.2158C>T (p.His720Tyr)
c.2422C>T (p.His808Tyr)
c.2620C>T (p.His874Tyr)
c.3025C>T (p.His1009Tyr)
gnomAD v4
15g.22903770G>CCA391334384CYFIP1c.2518C>G (p.His840Asp)
c.2524C>G (p.His842Asp)
c.1231C>G (p.His411Asp)
n.917C>G
n.1671C>G
c.2923C>G (p.His975Asp)
c.2626C>G (p.His876Asp)
c.844C>G (p.His282Asp)
c.2434C>G (p.His812Asp)
c.2158C>G (p.His720Asp)
c.2422C>G (p.His808Asp)
c.2620C>G (p.His874Asp)
c.3025C>G (p.His1009Asp)
15g.22903770G>TCA391334387CYFIP1c.2518C>A (p.His840Asn)
c.2524C>A (p.His842Asn)
c.1231C>A (p.His411Asn)
n.917C>A
n.1671C>A
c.2923C>A (p.His975Asn)
c.2626C>A (p.His876Asn)
c.844C>A (p.His282Asn)
c.2434C>A (p.His812Asn)
c.2158C>A (p.His720Asn)
c.2422C>A (p.His808Asn)
c.2620C>A (p.His874Asn)
c.3025C>A (p.His1009Asn)
15g.22903771C>ACA488526445CYFIP1c.2517G>T (p.Leu839=)
c.2523G>T (p.Leu841=)
c.1230G>T (p.Leu410=)
n.916G>T
n.1670G>T
c.2922G>T (p.Leu974=)
c.2625G>T (p.Leu875=)
c.843G>T (p.Leu281=)
c.2433G>T (p.Leu811=)
c.2157G>T (p.Leu719=)
c.2421G>T (p.Leu807=)
c.2619G>T (p.Leu873=)
c.3024G>T (p.Leu1008=)
15g.22903771C>GCA488526447CYFIP1c.2517G>C (p.Leu839=)
c.2523G>C (p.Leu841=)
c.1230G>C (p.Leu410=)
n.916G>C
n.1670G>C
c.2922G>C (p.Leu974=)
c.2625G>C (p.Leu875=)
c.843G>C (p.Leu281=)
c.2433G>C (p.Leu811=)
c.2157G>C (p.Leu719=)
c.2421G>C (p.Leu807=)
c.2619G>C (p.Leu873=)
c.3024G>C (p.Leu1008=)
15g.22903771C>TCA488526446CYFIP1c.2517G>A (p.Leu839=)
c.2523G>A (p.Leu841=)
c.1230G>A (p.Leu410=)
n.916G>A
n.1670G>A
c.2922G>A (p.Leu974=)
c.2625G>A (p.Leu875=)
c.843G>A (p.Leu281=)
c.2433G>A (p.Leu811=)
c.2157G>A (p.Leu719=)
c.2421G>A (p.Leu807=)
c.2619G>A (p.Leu873=)
c.3024G>A (p.Leu1008=)
gnomAD v4
15g.22903772A>CCA391334389CYFIP1c.2516T>G (p.Leu839Arg)
c.2522T>G (p.Leu841Arg)
c.1229T>G (p.Leu410Arg)
n.915T>G
n.1669T>G
c.2921T>G (p.Leu974Arg)
c.2624T>G (p.Leu875Arg)
c.842T>G (p.Leu281Arg)
c.2432T>G (p.Leu811Arg)
c.2156T>G (p.Leu719Arg)
c.2420T>G (p.Leu807Arg)
c.2618T>G (p.Leu873Arg)
c.3023T>G (p.Leu1008Arg)
15g.22903772A>GCA391334390CYFIP1c.2516T>C (p.Leu839Pro)
c.2522T>C (p.Leu841Pro)
c.1229T>C (p.Leu410Pro)
n.915T>C
n.1669T>C
c.2921T>C (p.Leu974Pro)
c.2624T>C (p.Leu875Pro)
c.842T>C (p.Leu281Pro)
c.2432T>C (p.Leu811Pro)
c.2156T>C (p.Leu719Pro)
c.2420T>C (p.Leu807Pro)
c.2618T>C (p.Leu873Pro)
c.3023T>C (p.Leu1008Pro)
15g.22903772A>TCA391334392CYFIP1c.2516T>A (p.Leu839Gln)
c.2522T>A (p.Leu841Gln)
c.1229T>A (p.Leu410Gln)
n.915T>A
n.1669T>A
c.2921T>A (p.Leu974Gln)
c.2624T>A (p.Leu875Gln)
c.842T>A (p.Leu281Gln)
c.2432T>A (p.Leu811Gln)
c.2156T>A (p.Leu719Gln)
c.2420T>A (p.Leu807Gln)
c.2618T>A (p.Leu873Gln)
c.3023T>A (p.Leu1008Gln)
15g.22903773G>ACA488526448CYFIP1c.2515C>T (p.Leu839=)
c.2521C>T (p.Leu841=)
c.1228C>T (p.Leu410=)
n.914C>T
n.1668C>T
c.2920C>T (p.Leu974=)
c.2623C>T (p.Leu875=)
c.841C>T (p.Leu281=)
c.2431C>T (p.Leu811=)
c.2155C>T (p.Leu719=)
c.2419C>T (p.Leu807=)
c.2617C>T (p.Leu873=)
c.3022C>T (p.Leu1008=)
15g.22903773G>CCA391334395CYFIP1c.2515C>G (p.Leu839Val)
c.2521C>G (p.Leu841Val)
c.1228C>G (p.Leu410Val)
n.914C>G
n.1668C>G
c.2920C>G (p.Leu974Val)
c.2623C>G (p.Leu875Val)
c.841C>G (p.Leu281Val)
c.2431C>G (p.Leu811Val)
c.2155C>G (p.Leu719Val)
c.2419C>G (p.Leu807Val)
c.2617C>G (p.Leu873Val)
c.3022C>G (p.Leu1008Val)
15g.22903773G>TCA391334396CYFIP1c.2515C>A (p.Leu839Met)
c.2521C>A (p.Leu841Met)
c.1228C>A (p.Leu410Met)
n.914C>A
n.1668C>A
c.2920C>A (p.Leu974Met)
c.2623C>A (p.Leu875Met)
c.841C>A (p.Leu281Met)
c.2431C>A (p.Leu811Met)
c.2155C>A (p.Leu719Met)
c.2419C>A (p.Leu807Met)
c.2617C>A (p.Leu873Met)
c.3022C>A (p.Leu1008Met)
15g.22903774G>ACA488526451CYFIP1c.2514C>T (p.Thr838=)
c.2520C>T (p.Thr840=)
c.1227C>T (p.Thr409=)
n.913C>T
n.1667C>T
c.2919C>T (p.Thr973=)
c.2622C>T (p.Thr874=)
c.840C>T (p.Thr280=)
c.2430C>T (p.Thr810=)
c.2154C>T (p.Thr718=)
c.2418C>T (p.Thr806=)
c.2616C>T (p.Thr872=)
c.3021C>T (p.Thr1007=)
gnomAD v4
15g.22903774G>CCA488526449CYFIP1c.2514C>G (p.Thr838=)
c.2520C>G (p.Thr840=)
c.1227C>G (p.Thr409=)
n.913C>G
n.1667C>G
c.2919C>G (p.Thr973=)
c.2622C>G (p.Thr874=)
c.840C>G (p.Thr280=)
c.2430C>G (p.Thr810=)
c.2154C>G (p.Thr718=)
c.2418C>G (p.Thr806=)
c.2616C>G (p.Thr872=)
c.3021C>G (p.Thr1007=)
15g.22903774G>TCA488526450CYFIP1c.2514C>A (p.Thr838=)
c.2520C>A (p.Thr840=)
c.1227C>A (p.Thr409=)
n.913C>A
n.1667C>A
c.2919C>A (p.Thr973=)
c.2622C>A (p.Thr874=)
c.840C>A (p.Thr280=)
c.2430C>A (p.Thr810=)
c.2154C>A (p.Thr718=)
c.2418C>A (p.Thr806=)
c.2616C>A (p.Thr872=)
c.3021C>A (p.Thr1007=)
15g.22903775G>ACA391334403CYFIP1c.2513C>T (p.Thr838Ile)
c.2519C>T (p.Thr840Ile)
c.1226C>T (p.Thr409Ile)
n.912C>T
n.1666C>T
c.2918C>T (p.Thr973Ile)
c.2621C>T (p.Thr874Ile)
c.839C>T (p.Thr280Ile)
c.2429C>T (p.Thr810Ile)
c.2153C>T (p.Thr718Ile)
c.2417C>T (p.Thr806Ile)
c.2615C>T (p.Thr872Ile)
c.3020C>T (p.Thr1007Ile)
15g.22903775G>CCA391334401CYFIP1c.2513C>G (p.Thr838Ser)
c.2519C>G (p.Thr840Ser)
c.1226C>G (p.Thr409Ser)
n.912C>G
n.1666C>G
c.2918C>G (p.Thr973Ser)
c.2621C>G (p.Thr874Ser)
c.839C>G (p.Thr280Ser)
c.2429C>G (p.Thr810Ser)
c.2153C>G (p.Thr718Ser)
c.2417C>G (p.Thr806Ser)
c.2615C>G (p.Thr872Ser)
c.3020C>G (p.Thr1007Ser)
15g.22903775G>TCA391334399CYFIP1c.2513C>A (p.Thr838Asn)
c.2519C>A (p.Thr840Asn)
c.1226C>A (p.Thr409Asn)
n.912C>A
n.1666C>A
c.2918C>A (p.Thr973Asn)
c.2621C>A (p.Thr874Asn)
c.839C>A (p.Thr280Asn)
c.2429C>A (p.Thr810Asn)
c.2153C>A (p.Thr718Asn)
c.2417C>A (p.Thr806Asn)
c.2615C>A (p.Thr872Asn)
c.3020C>A (p.Thr1007Asn)
15g.22903776T>ACA391334405CYFIP1c.2512A>T (p.Thr838Ser)
c.2518A>T (p.Thr840Ser)
c.1225A>T (p.Thr409Ser)
n.911A>T
n.1665A>T
c.2917A>T (p.Thr973Ser)
c.2620A>T (p.Thr874Ser)
c.838A>T (p.Thr280Ser)
c.2428A>T (p.Thr810Ser)
c.2152A>T (p.Thr718Ser)
c.2416A>T (p.Thr806Ser)
c.2614A>T (p.Thr872Ser)
c.3019A>T (p.Thr1007Ser)
15g.22903776T>CCA391334407CYFIP1c.2512A>G (p.Thr838Ala)
c.2518A>G (p.Thr840Ala)
c.1225A>G (p.Thr409Ala)
n.911A>G
n.1665A>G
c.2917A>G (p.Thr973Ala)
c.2620A>G (p.Thr874Ala)
c.838A>G (p.Thr280Ala)
c.2428A>G (p.Thr810Ala)
c.2152A>G (p.Thr718Ala)
c.2416A>G (p.Thr806Ala)
c.2614A>G (p.Thr872Ala)
c.3019A>G (p.Thr1007Ala)
gnomAD v4
15g.22903776T>GCA391334409CYFIP1c.2512A>C (p.Thr838Pro)
c.2518A>C (p.Thr840Pro)
c.1225A>C (p.Thr409Pro)
n.911A>C
n.1665A>C
c.2917A>C (p.Thr973Pro)
c.2620A>C (p.Thr874Pro)
c.838A>C (p.Thr280Pro)
c.2428A>C (p.Thr810Pro)
c.2152A>C (p.Thr718Pro)
c.2416A>C (p.Thr806Pro)
c.2614A>C (p.Thr872Pro)
c.3019A>C (p.Thr1007Pro)
15g.22903777G>ACA7425120CYFIP1c.2511C>T (p.Ile837=)
c.2517C>T (p.Ile839=)
c.1224C>T (p.Ile408=)
n.910C>T
n.1664C>T
c.2916C>T (p.Ile972=)
c.2619C>T (p.Ile873=)
c.837C>T (p.Ile279=)
c.2427C>T (p.Ile809=)
c.2151C>T (p.Ile717=)
c.2415C>T (p.Ile805=)
c.2613C>T (p.Ile871=)
c.3018C>T (p.Ile1006=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.22903777G>CCA391334410CYFIP1c.2511C>G (p.Ile837Met)
c.2517C>G (p.Ile839Met)
c.1224C>G (p.Ile408Met)
n.910C>G
n.1664C>G
c.2916C>G (p.Ile972Met)
c.2619C>G (p.Ile873Met)
c.837C>G (p.Ile279Met)
c.2427C>G (p.Ile809Met)
c.2151C>G (p.Ile717Met)
c.2415C>G (p.Ile805Met)
c.2613C>G (p.Ile871Met)
c.3018C>G (p.Ile1006Met)
15g.22903777G=CA2163977980CYFIP1c.2511C= (p.Ile837=)
c.2517C= (p.Ile839=)
c.1224C= (p.Ile408=)
n.910C=
n.1664C=
c.2916C= (p.Ile972=)
c.2619C= (p.Ile873=)
c.837C= (p.Ile279=)
c.2427C= (p.Ile809=)
c.2151C= (p.Ile717=)
c.2415C= (p.Ile805=)
c.2613C= (p.Ile871=)
c.3018C= (p.Ile1006=)
15g.22903777G>TCA488526452CYFIP1c.2511C>A (p.Ile837=)
c.2517C>A (p.Ile839=)
c.1224C>A (p.Ile408=)
n.910C>A
n.1664C>A
c.2916C>A (p.Ile972=)
c.2619C>A (p.Ile873=)
c.837C>A (p.Ile279=)
c.2427C>A (p.Ile809=)
c.2151C>A (p.Ile717=)
c.2415C>A (p.Ile805=)
c.2613C>A (p.Ile871=)
c.3018C>A (p.Ile1006=)
15g.22903778A>CCA391334411CYFIP1c.2510T>G (p.Ile837Ser)
c.2516T>G (p.Ile839Ser)
c.1223T>G (p.Ile408Ser)
n.909T>G
n.1663T>G
c.2915T>G (p.Ile972Ser)
c.2618T>G (p.Ile873Ser)
c.836T>G (p.Ile279Ser)
c.2426T>G (p.Ile809Ser)
c.2150T>G (p.Ile717Ser)
c.2414T>G (p.Ile805Ser)
c.2612T>G (p.Ile871Ser)
c.3017T>G (p.Ile1006Ser)
15g.22903778A>GCA391334412CYFIP1c.2510T>C (p.Ile837Thr)
c.2516T>C (p.Ile839Thr)
c.1223T>C (p.Ile408Thr)
n.909T>C
n.1663T>C
c.2915T>C (p.Ile972Thr)
c.2618T>C (p.Ile873Thr)
c.836T>C (p.Ile279Thr)
c.2426T>C (p.Ile809Thr)
c.2150T>C (p.Ile717Thr)
c.2414T>C (p.Ile805Thr)
c.2612T>C (p.Ile871Thr)
c.3017T>C (p.Ile1006Thr)
15g.22903778A>TCA391334413CYFIP1c.2510T>A (p.Ile837Asn)
c.2516T>A (p.Ile839Asn)
c.1223T>A (p.Ile408Asn)
n.909T>A
n.1663T>A
c.2915T>A (p.Ile972Asn)
c.2618T>A (p.Ile873Asn)
c.836T>A (p.Ile279Asn)
c.2426T>A (p.Ile809Asn)
c.2150T>A (p.Ile717Asn)
c.2414T>A (p.Ile805Asn)
c.2612T>A (p.Ile871Asn)
c.3017T>A (p.Ile1006Asn)
15g.22903779T>ACA391334415CYFIP1c.2509A>T (p.Ile837Phe)
c.2515A>T (p.Ile839Phe)
c.1222A>T (p.Ile408Phe)
n.908A>T
n.1662A>T
c.2914A>T (p.Ile972Phe)
c.2617A>T (p.Ile873Phe)
c.835A>T (p.Ile279Phe)
c.2425A>T (p.Ile809Phe)
c.2149A>T (p.Ile717Phe)
c.2413A>T (p.Ile805Phe)
c.2611A>T (p.Ile871Phe)
c.3016A>T (p.Ile1006Phe)
gnomAD v4
15g.22903779T>CCA391334416CYFIP1c.2509A>G (p.Ile837Val)
c.2515A>G (p.Ile839Val)
c.1222A>G (p.Ile408Val)
n.908A>G
n.1662A>G
c.2914A>G (p.Ile972Val)
c.2617A>G (p.Ile873Val)
c.835A>G (p.Ile279Val)
c.2425A>G (p.Ile809Val)
c.2149A>G (p.Ile717Val)
c.2413A>G (p.Ile805Val)
c.2611A>G (p.Ile871Val)
c.3016A>G (p.Ile1006Val)
15g.22903779T>GCA391334419CYFIP1c.2509A>C (p.Ile837Leu)
c.2515A>C (p.Ile839Leu)
c.1222A>C (p.Ile408Leu)
n.908A>C
n.1662A>C
c.2914A>C (p.Ile972Leu)
c.2617A>C (p.Ile873Leu)
c.835A>C (p.Ile279Leu)
c.2425A>C (p.Ile809Leu)
c.2149A>C (p.Ile717Leu)
c.2413A>C (p.Ile805Leu)
c.2611A>C (p.Ile871Leu)
c.3016A>C (p.Ile1006Leu)
15g.22903780C>ACA391334421CYFIP1c.2508G>T (p.Arg836Ser)
c.2514G>T (p.Arg838Ser)
c.1221G>T (p.Arg407Ser)
n.907G>T
n.1661G>T
c.2913G>T (p.Arg971Ser)
c.2616G>T (p.Arg872Ser)
c.834G>T (p.Arg278Ser)
c.2424G>T (p.Arg808Ser)
c.2148G>T (p.Arg716Ser)
c.2412G>T (p.Arg804Ser)
c.2610G>T (p.Arg870Ser)
c.3015G>T (p.Arg1005Ser)
15g.22903780C>GCA391334422CYFIP1c.2508G>C (p.Arg836Ser)
c.2514G>C (p.Arg838Ser)
c.1221G>C (p.Arg407Ser)
n.907G>C
n.1661G>C
c.2913G>C (p.Arg971Ser)
c.2616G>C (p.Arg872Ser)
c.834G>C (p.Arg278Ser)
c.2424G>C (p.Arg808Ser)
c.2148G>C (p.Arg716Ser)
c.2412G>C (p.Arg804Ser)
c.2610G>C (p.Arg870Ser)
c.3015G>C (p.Arg1005Ser)
15g.22903780C>TCA488526453CYFIP1c.2508G>A (p.Arg836=)
c.2514G>A (p.Arg838=)
c.1221G>A (p.Arg407=)
n.907G>A
n.1661G>A
c.2913G>A (p.Arg971=)
c.2616G>A (p.Arg872=)
c.834G>A (p.Arg278=)
c.2424G>A (p.Arg808=)
c.2148G>A (p.Arg716=)
c.2412G>A (p.Arg804=)
c.2610G>A (p.Arg870=)
c.3015G>A (p.Arg1005=)
gnomAD v4
15g.22903781C>ACA391334427CYFIP1c.2507G>T (p.Arg836Met)
c.2513G>T (p.Arg838Met)
c.1220G>T (p.Arg407Met)
n.906G>T
n.1660G>T
c.2912G>T (p.Arg971Met)
c.2615G>T (p.Arg872Met)
c.833G>T (p.Arg278Met)
c.2423G>T (p.Arg808Met)
c.2147G>T (p.Arg716Met)
c.2411G>T (p.Arg804Met)
c.2609G>T (p.Arg870Met)
c.3014G>T (p.Arg1005Met)
15g.22903781C=CA2163977986CYFIP1c.2507G= (p.Arg836=)
c.2513G= (p.Arg838=)
c.1220G= (p.Arg407=)
n.906G=
n.1660G=
c.2912G= (p.Arg971=)
c.2615G= (p.Arg872=)
c.833G= (p.Arg278=)
c.2423G= (p.Arg808=)
c.2147G= (p.Arg716=)
c.2411G= (p.Arg804=)
c.2609G= (p.Arg870=)
c.3014G= (p.Arg1005=)
15g.22903781C>GCA391334426CYFIP1c.2507G>C (p.Arg836Thr)
c.2513G>C (p.Arg838Thr)
c.1220G>C (p.Arg407Thr)
n.906G>C
n.1660G>C
c.2912G>C (p.Arg971Thr)
c.2615G>C (p.Arg872Thr)
c.833G>C (p.Arg278Thr)
c.2423G>C (p.Arg808Thr)
c.2147G>C (p.Arg716Thr)
c.2411G>C (p.Arg804Thr)
c.2609G>C (p.Arg870Thr)
c.3014G>C (p.Arg1005Thr)
15g.22903781C>TCA391334424CYFIP1c.2507G>A (p.Arg836Lys)
c.2513G>A (p.Arg838Lys)
c.1220G>A (p.Arg407Lys)
n.906G>A
n.1660G>A
c.2912G>A (p.Arg971Lys)
c.2615G>A (p.Arg872Lys)
c.833G>A (p.Arg278Lys)
c.2423G>A (p.Arg808Lys)
c.2147G>A (p.Arg716Lys)
c.2411G>A (p.Arg804Lys)
c.2609G>A (p.Arg870Lys)
c.3014G>A (p.Arg1005Lys)
dbSNP gnomAD v3 gnomAD v4
15g.22903782T>ACA391334432CYFIP1c.2506A>T (p.Arg836Trp)
c.2512A>T (p.Arg838Trp)
c.1219A>T (p.Arg407Trp)
n.905A>T
n.1659A>T
c.2911A>T (p.Arg971Trp)
c.2614A>T (p.Arg872Trp)
c.832A>T (p.Arg278Trp)
c.2422A>T (p.Arg808Trp)
c.2146A>T (p.Arg716Trp)
c.2410A>T (p.Arg804Trp)
c.2608A>T (p.Arg870Trp)
c.3013A>T (p.Arg1005Trp)
COSMIC
15g.22903782T>CCA391334430CYFIP1c.2506A>G (p.Arg836Gly)
c.2512A>G (p.Arg838Gly)
c.1219A>G (p.Arg407Gly)
n.905A>G
n.1659A>G
c.2911A>G (p.Arg971Gly)
c.2614A>G (p.Arg872Gly)
c.832A>G (p.Arg278Gly)
c.2422A>G (p.Arg808Gly)
c.2146A>G (p.Arg716Gly)
c.2410A>G (p.Arg804Gly)
c.2608A>G (p.Arg870Gly)
c.3013A>G (p.Arg1005Gly)
15g.22903782T>GCA488526454CYFIP1c.2506A>C (p.Arg836=)
c.2512A>C (p.Arg838=)
c.1219A>C (p.Arg407=)
n.905A>C
n.1659A>C
c.2911A>C (p.Arg971=)
c.2614A>C (p.Arg872=)
c.832A>C (p.Arg278=)
c.2422A>C (p.Arg808=)
c.2146A>C (p.Arg716=)
c.2410A>C (p.Arg804=)
c.2608A>C (p.Arg870=)
c.3013A>C (p.Arg1005=)
15g.22903783C>ACA488526456CYFIP1c.2505G>T (p.Gly835=)
c.2511G>T (p.Gly837=)
c.1218G>T (p.Gly406=)
n.904G>T
n.1658G>T
c.2910G>T (p.Gly970=)
c.2613G>T (p.Gly871=)
c.831G>T (p.Gly277=)
c.2421G>T (p.Gly807=)
c.2145G>T (p.Gly715=)
c.2409G>T (p.Gly803=)
c.2607G>T (p.Gly869=)
c.3012G>T (p.Gly1004=)
15g.22903783C>GCA488526457CYFIP1c.2505G>C (p.Gly835=)
c.2511G>C (p.Gly837=)
c.1218G>C (p.Gly406=)
n.904G>C
n.1658G>C
c.2910G>C (p.Gly970=)
c.2613G>C (p.Gly871=)
c.831G>C (p.Gly277=)
c.2421G>C (p.Gly807=)
c.2145G>C (p.Gly715=)
c.2409G>C (p.Gly803=)
c.2607G>C (p.Gly869=)
c.3012G>C (p.Gly1004=)
15g.22903783C>TCA488526455CYFIP1c.2505G>A (p.Gly835=)
c.2511G>A (p.Gly837=)
c.1218G>A (p.Gly406=)
n.904G>A
n.1658G>A
c.2910G>A (p.Gly970=)
c.2613G>A (p.Gly871=)
c.831G>A (p.Gly277=)
c.2421G>A (p.Gly807=)
c.2145G>A (p.Gly715=)
c.2409G>A (p.Gly803=)
c.2607G>A (p.Gly869=)
c.3012G>A (p.Gly1004=)
gnomAD v4
15g.22903784C>ACA391334433CYFIP1c.2504G>T (p.Gly835Val)
c.2510G>T (p.Gly837Val)
c.1217G>T (p.Gly406Val)
n.903G>T
n.1657G>T
c.2909G>T (p.Gly970Val)
c.2612G>T (p.Gly871Val)
c.830G>T (p.Gly277Val)
c.2420G>T (p.Gly807Val)
c.2144G>T (p.Gly715Val)
c.2408G>T (p.Gly803Val)
c.2606G>T (p.Gly869Val)
c.3011G>T (p.Gly1004Val)
15g.22903784C>GCA391334435CYFIP1c.2504G>C (p.Gly835Ala)
c.2510G>C (p.Gly837Ala)
c.1217G>C (p.Gly406Ala)
n.903G>C
n.1657G>C
c.2909G>C (p.Gly970Ala)
c.2612G>C (p.Gly871Ala)
c.830G>C (p.Gly277Ala)
c.2420G>C (p.Gly807Ala)
c.2144G>C (p.Gly715Ala)
c.2408G>C (p.Gly803Ala)
c.2606G>C (p.Gly869Ala)
c.3011G>C (p.Gly1004Ala)
15g.22903784C>TCA391334437CYFIP1c.2504G>A (p.Gly835Glu)
c.2510G>A (p.Gly837Glu)
c.1217G>A (p.Gly406Glu)
n.903G>A
n.1657G>A
c.2909G>A (p.Gly970Glu)
c.2612G>A (p.Gly871Glu)
c.830G>A (p.Gly277Glu)
c.2420G>A (p.Gly807Glu)
c.2144G>A (p.Gly715Glu)
c.2408G>A (p.Gly803Glu)
c.2606G>A (p.Gly869Glu)
c.3011G>A (p.Gly1004Glu)
15g.22903785C>ACA391334439CYFIP1c.2503G>T (p.Gly835Trp)
c.2509G>T (p.Gly837Trp)
c.1216G>T (p.Gly406Trp)
n.902G>T
n.1656G>T
c.2908G>T (p.Gly970Trp)
c.2611G>T (p.Gly871Trp)
c.829G>T (p.Gly277Trp)
c.2419G>T (p.Gly807Trp)
c.2143G>T (p.Gly715Trp)
c.2407G>T (p.Gly803Trp)
c.2605G>T (p.Gly869Trp)
c.3010G>T (p.Gly1004Trp)
15g.22903785C=CA2163977989CYFIP1c.2503G= (p.Gly835=)
c.2509G= (p.Gly837=)
c.1216G= (p.Gly406=)
n.902G=
n.1656G=
c.2908G= (p.Gly970=)
c.2611G= (p.Gly871=)
c.829G= (p.Gly277=)
c.2419G= (p.Gly807=)
c.2143G= (p.Gly715=)
c.2407G= (p.Gly803=)
c.2605G= (p.Gly869=)
c.3010G= (p.Gly1004=)
15g.22903785C>GCA391334441CYFIP1c.2503G>C (p.Gly835Arg)
c.2509G>C (p.Gly837Arg)
c.1216G>C (p.Gly406Arg)
n.902G>C
n.1656G>C
c.2908G>C (p.Gly970Arg)
c.2611G>C (p.Gly871Arg)
c.829G>C (p.Gly277Arg)
c.2419G>C (p.Gly807Arg)
c.2143G>C (p.Gly715Arg)
c.2407G>C (p.Gly803Arg)
c.2605G>C (p.Gly869Arg)
c.3010G>C (p.Gly1004Arg)
15g.22903785C>TCA267616387CYFIP1c.2503G>A (p.Gly835Arg)
c.2509G>A (p.Gly837Arg)
c.1216G>A (p.Gly406Arg)
n.902G>A
n.1656G>A
c.2908G>A (p.Gly970Arg)
c.2611G>A (p.Gly871Arg)
c.829G>A (p.Gly277Arg)
c.2419G>A (p.Gly807Arg)
c.2143G>A (p.Gly715Arg)
c.2407G>A (p.Gly803Arg)
c.2605G>A (p.Gly869Arg)
c.3010G>A (p.Gly1004Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.22903786G>ACA7425119CYFIP1c.2502C>T (p.Tyr834=)
c.2508C>T (p.Tyr836=)
c.1215C>T (p.Tyr405=)
n.901C>T
n.1655C>T
c.2907C>T (p.Tyr969=)
c.2610C>T (p.Tyr870=)
c.828C>T (p.Tyr276=)
c.2418C>T (p.Tyr806=)
c.2142C>T (p.Tyr714=)
c.2406C>T (p.Tyr802=)
c.2604C>T (p.Tyr868=)
c.3009C>T (p.Tyr1003=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903786G>CCA391334444CYFIP1c.2502C>G (p.Tyr834Ter)
c.2508C>G (p.Tyr836Ter)
c.1215C>G (p.Tyr405Ter)
n.901C>G
n.1655C>G
c.2907C>G (p.Tyr969Ter)
c.2610C>G (p.Tyr870Ter)
c.828C>G (p.Tyr276Ter)
c.2418C>G (p.Tyr806Ter)
c.2142C>G (p.Tyr714Ter)
c.2406C>G (p.Tyr802Ter)
c.2604C>G (p.Tyr868Ter)
c.3009C>G (p.Tyr1003Ter)
15g.22903786G=CA2163977997CYFIP1c.2502C= (p.Tyr834=)
c.2508C= (p.Tyr836=)
c.1215C= (p.Tyr405=)
n.901C=
n.1655C=
c.2907C= (p.Tyr969=)
c.2610C= (p.Tyr870=)
c.828C= (p.Tyr276=)
c.2418C= (p.Tyr806=)
c.2142C= (p.Tyr714=)
c.2406C= (p.Tyr802=)
c.2604C= (p.Tyr868=)
c.3009C= (p.Tyr1003=)
15g.22903786G>TCA391334446CYFIP1c.2502C>A (p.Tyr834Ter)
c.2508C>A (p.Tyr836Ter)
c.1215C>A (p.Tyr405Ter)
n.901C>A
n.1655C>A
c.2907C>A (p.Tyr969Ter)
c.2610C>A (p.Tyr870Ter)
c.828C>A (p.Tyr276Ter)
c.2418C>A (p.Tyr806Ter)
c.2142C>A (p.Tyr714Ter)
c.2406C>A (p.Tyr802Ter)
c.2604C>A (p.Tyr868Ter)
c.3009C>A (p.Tyr1003Ter)
gnomAD v4
15g.22903787T>ACA391334447CYFIP1c.2501A>T (p.Tyr834Phe)
c.2507A>T (p.Tyr836Phe)
c.1214A>T (p.Tyr405Phe)
n.900A>T
n.1654A>T
c.2906A>T (p.Tyr969Phe)
c.2609A>T (p.Tyr870Phe)
c.827A>T (p.Tyr276Phe)
c.2417A>T (p.Tyr806Phe)
c.2141A>T (p.Tyr714Phe)
c.2405A>T (p.Tyr802Phe)
c.2603A>T (p.Tyr868Phe)
c.3008A>T (p.Tyr1003Phe)
dbSNP gnomAD v2 gnomAD v4
15g.22903787T>CCA391334449CYFIP1c.2501A>G (p.Tyr834Cys)
c.2507A>G (p.Tyr836Cys)
c.1214A>G (p.Tyr405Cys)
n.900A>G
n.1654A>G
c.2906A>G (p.Tyr969Cys)
c.2609A>G (p.Tyr870Cys)
c.827A>G (p.Tyr276Cys)
c.2417A>G (p.Tyr806Cys)
c.2141A>G (p.Tyr714Cys)
c.2405A>G (p.Tyr802Cys)
c.2603A>G (p.Tyr868Cys)
c.3008A>G (p.Tyr1003Cys)
15g.22903787T>GCA391334450CYFIP1c.2501A>C (p.Tyr834Ser)
c.2507A>C (p.Tyr836Ser)
c.1214A>C (p.Tyr405Ser)
n.900A>C
n.1654A>C
c.2906A>C (p.Tyr969Ser)
c.2609A>C (p.Tyr870Ser)
c.827A>C (p.Tyr276Ser)
c.2417A>C (p.Tyr806Ser)
c.2141A>C (p.Tyr714Ser)
c.2405A>C (p.Tyr802Ser)
c.2603A>C (p.Tyr868Ser)
c.3008A>C (p.Tyr1003Ser)
15g.22903787T=CA2163978002CYFIP1c.2501A= (p.Tyr834=)
c.2507A= (p.Tyr836=)
c.1214A= (p.Tyr405=)
n.900A=
n.1654A=
c.2906A= (p.Tyr969=)
c.2609A= (p.Tyr870=)
c.827A= (p.Tyr276=)
c.2417A= (p.Tyr806=)
c.2141A= (p.Tyr714=)
c.2405A= (p.Tyr802=)
c.2603A= (p.Tyr868=)
c.3008A= (p.Tyr1003=)
15g.22903788A>CCA391334456CYFIP1c.2500T>G (p.Tyr834Asp)
c.2506T>G (p.Tyr836Asp)
c.1213T>G (p.Tyr405Asp)
n.899T>G
n.1653T>G
c.2905T>G (p.Tyr969Asp)
c.2608T>G (p.Tyr870Asp)
c.826T>G (p.Tyr276Asp)
c.2416T>G (p.Tyr806Asp)
c.2140T>G (p.Tyr714Asp)
c.2404T>G (p.Tyr802Asp)
c.2602T>G (p.Tyr868Asp)
c.3007T>G (p.Tyr1003Asp)
dbSNP
15g.22903788A>GCA391334455CYFIP1c.2500T>C (p.Tyr834His)
c.2506T>C (p.Tyr836His)
c.1213T>C (p.Tyr405His)
n.899T>C
n.1653T>C
c.2905T>C (p.Tyr969His)
c.2608T>C (p.Tyr870His)
c.826T>C (p.Tyr276His)
c.2416T>C (p.Tyr806His)
c.2140T>C (p.Tyr714His)
c.2404T>C (p.Tyr802His)
c.2602T>C (p.Tyr868His)
c.3007T>C (p.Tyr1003His)
15g.22903788A>TCA391334453CYFIP1c.2500T>A (p.Tyr834Asn)
c.2506T>A (p.Tyr836Asn)
c.1213T>A (p.Tyr405Asn)
n.899T>A
n.1653T>A
c.2905T>A (p.Tyr969Asn)
c.2608T>A (p.Tyr870Asn)
c.826T>A (p.Tyr276Asn)
c.2416T>A (p.Tyr806Asn)
c.2140T>A (p.Tyr714Asn)
c.2404T>A (p.Tyr802Asn)
c.2602T>A (p.Tyr868Asn)
c.3007T>A (p.Tyr1003Asn)
dbSNP
15g.22903789G>ACA488526459CYFIP1c.2499C>T (p.Pro833=)
c.2505C>T (p.Pro835=)
c.1212C>T (p.Pro404=)
n.898C>T
n.1652C>T
c.2904C>T (p.Pro968=)
c.2607C>T (p.Pro869=)
c.825C>T (p.Pro275=)
c.2415C>T (p.Pro805=)
c.2139C>T (p.Pro713=)
c.2403C>T (p.Pro801=)
c.2601C>T (p.Pro867=)
c.3006C>T (p.Pro1002=)
dbSNP
15g.22903789G>CCA488526460CYFIP1c.2499C>G (p.Pro833=)
c.2505C>G (p.Pro835=)
c.1212C>G (p.Pro404=)
n.898C>G
n.1652C>G
c.2904C>G (p.Pro968=)
c.2607C>G (p.Pro869=)
c.825C>G (p.Pro275=)
c.2415C>G (p.Pro805=)
c.2139C>G (p.Pro713=)
c.2403C>G (p.Pro801=)
c.2601C>G (p.Pro867=)
c.3006C>G (p.Pro1002=)
gnomAD v4
15g.22903789G=CA2163978005CYFIP1c.2499C= (p.Pro833=)
c.2505C= (p.Pro835=)
c.1212C= (p.Pro404=)
n.898C=
n.1652C=
c.2904C= (p.Pro968=)
c.2607C= (p.Pro869=)
c.825C= (p.Pro275=)
c.2415C= (p.Pro805=)
c.2139C= (p.Pro713=)
c.2403C= (p.Pro801=)
c.2601C= (p.Pro867=)
c.3006C= (p.Pro1002=)
15g.22903789G>TCA488526458CYFIP1c.2499C>A (p.Pro833=)
c.2505C>A (p.Pro835=)
c.1212C>A (p.Pro404=)
n.898C>A
n.1652C>A
c.2904C>A (p.Pro968=)
c.2607C>A (p.Pro869=)
c.825C>A (p.Pro275=)
c.2415C>A (p.Pro805=)
c.2139C>A (p.Pro713=)
c.2403C>A (p.Pro801=)
c.2601C>A (p.Pro867=)
c.3006C>A (p.Pro1002=)
15g.22903790G>ACA391334458CYFIP1c.2498C>T (p.Pro833Leu)
c.2504C>T (p.Pro835Leu)
c.1211C>T (p.Pro404Leu)
n.897C>T
n.1651C>T
c.2903C>T (p.Pro968Leu)
c.2606C>T (p.Pro869Leu)
c.824C>T (p.Pro275Leu)
c.2414C>T (p.Pro805Leu)
c.2138C>T (p.Pro713Leu)
c.2402C>T (p.Pro801Leu)
c.2600C>T (p.Pro867Leu)
c.3005C>T (p.Pro1002Leu)
15g.22903790G>CCA391334460CYFIP1c.2498C>G (p.Pro833Arg)
c.2504C>G (p.Pro835Arg)
c.1211C>G (p.Pro404Arg)
n.897C>G
n.1651C>G
c.2903C>G (p.Pro968Arg)
c.2606C>G (p.Pro869Arg)
c.824C>G (p.Pro275Arg)
c.2414C>G (p.Pro805Arg)
c.2138C>G (p.Pro713Arg)
c.2402C>G (p.Pro801Arg)
c.2600C>G (p.Pro867Arg)
c.3005C>G (p.Pro1002Arg)
15g.22903790G>TCA391334462CYFIP1c.2498C>A (p.Pro833His)
c.2504C>A (p.Pro835His)
c.1211C>A (p.Pro404His)
n.897C>A
n.1651C>A
c.2903C>A (p.Pro968His)
c.2606C>A (p.Pro869His)
c.824C>A (p.Pro275His)
c.2414C>A (p.Pro805His)
c.2138C>A (p.Pro713His)
c.2402C>A (p.Pro801His)
c.2600C>A (p.Pro867His)
c.3005C>A (p.Pro1002His)
15g.22903791G>ACA391334464CYFIP1c.2497C>T (p.Pro833Ser)
c.2503C>T (p.Pro835Ser)
c.1210C>T (p.Pro404Ser)
n.896C>T
n.1650C>T
c.2902C>T (p.Pro968Ser)
c.2605C>T (p.Pro869Ser)
c.823C>T (p.Pro275Ser)
c.2413C>T (p.Pro805Ser)
c.2137C>T (p.Pro713Ser)
c.2401C>T (p.Pro801Ser)
c.2599C>T (p.Pro867Ser)
c.3004C>T (p.Pro1002Ser)
15g.22903791G>CCA391334465CYFIP1c.2497C>G (p.Pro833Ala)
c.2503C>G (p.Pro835Ala)
c.1210C>G (p.Pro404Ala)
n.896C>G
n.1650C>G
c.2902C>G (p.Pro968Ala)
c.2605C>G (p.Pro869Ala)
c.823C>G (p.Pro275Ala)
c.2413C>G (p.Pro805Ala)
c.2137C>G (p.Pro713Ala)
c.2401C>G (p.Pro801Ala)
c.2599C>G (p.Pro867Ala)
c.3004C>G (p.Pro1002Ala)
15g.22903791G>TCA391334467CYFIP1c.2497C>A (p.Pro833Thr)
c.2503C>A (p.Pro835Thr)
c.1210C>A (p.Pro404Thr)
n.896C>A
n.1650C>A
c.2902C>A (p.Pro968Thr)
c.2605C>A (p.Pro869Thr)
c.823C>A (p.Pro275Thr)
c.2413C>A (p.Pro805Thr)
c.2137C>A (p.Pro713Thr)
c.2401C>A (p.Pro801Thr)
c.2599C>A (p.Pro867Thr)
c.3004C>A (p.Pro1002Thr)
15g.22903792C>ACA488526461CYFIP1c.2496G>T (p.Ala832=)
c.2502G>T (p.Ala834=)
c.1209G>T (p.Ala403=)
n.895G>T
n.1649G>T
c.2901G>T (p.Ala967=)
c.2604G>T (p.Ala868=)
c.822G>T (p.Ala274=)
c.2412G>T (p.Ala804=)
c.2136G>T (p.Ala712=)
c.2400G>T (p.Ala800=)
c.2598G>T (p.Ala866=)
c.3003G>T (p.Ala1001=)
15g.22903792C=CA2163978009CYFIP1c.2496G= (p.Ala832=)
c.2502G= (p.Ala834=)
c.1209G= (p.Ala403=)
n.895G=
n.1649G=
c.2901G= (p.Ala967=)
c.2604G= (p.Ala868=)
c.822G= (p.Ala274=)
c.2412G= (p.Ala804=)
c.2136G= (p.Ala712=)
c.2400G= (p.Ala800=)
c.2598G= (p.Ala866=)
c.3003G= (p.Ala1001=)
15g.22903792C>GCA488526462CYFIP1c.2496G>C (p.Ala832=)
c.2502G>C (p.Ala834=)
c.1209G>C (p.Ala403=)
n.895G>C
n.1649G>C
c.2901G>C (p.Ala967=)
c.2604G>C (p.Ala868=)
c.822G>C (p.Ala274=)
c.2412G>C (p.Ala804=)
c.2136G>C (p.Ala712=)
c.2400G>C (p.Ala800=)
c.2598G>C (p.Ala866=)
c.3003G>C (p.Ala1001=)
gnomAD v4
15g.22903792C>TCA7425118CYFIP1c.2496G>A (p.Ala832=)
c.2502G>A (p.Ala834=)
c.1209G>A (p.Ala403=)
n.895G>A
n.1649G>A
c.2901G>A (p.Ala967=)
c.2604G>A (p.Ala868=)
c.822G>A (p.Ala274=)
c.2412G>A (p.Ala804=)
c.2136G>A (p.Ala712=)
c.2400G>A (p.Ala800=)
c.2598G>A (p.Ala866=)
c.3003G>A (p.Ala1001=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903793G>ACA391334468CYFIP1c.2495C>T (p.Ala832Val)
c.2501C>T (p.Ala834Val)
c.1208C>T (p.Ala403Val)
n.894C>T
n.1648C>T
c.2900C>T (p.Ala967Val)
c.2603C>T (p.Ala868Val)
c.821C>T (p.Ala274Val)
c.2411C>T (p.Ala804Val)
c.2135C>T (p.Ala712Val)
c.2399C>T (p.Ala800Val)
c.2597C>T (p.Ala866Val)
c.3002C>T (p.Ala1001Val)
dbSNP gnomAD v2 gnomAD v4
15g.22903793G>CCA391334469CYFIP1c.2495C>G (p.Ala832Gly)
c.2501C>G (p.Ala834Gly)
c.1208C>G (p.Ala403Gly)
n.894C>G
n.1648C>G
c.2900C>G (p.Ala967Gly)
c.2603C>G (p.Ala868Gly)
c.821C>G (p.Ala274Gly)
c.2411C>G (p.Ala804Gly)
c.2135C>G (p.Ala712Gly)
c.2399C>G (p.Ala800Gly)
c.2597C>G (p.Ala866Gly)
c.3002C>G (p.Ala1001Gly)
15g.22903793G=CA2163978013CYFIP1c.2495C= (p.Ala832=)
c.2501C= (p.Ala834=)
c.1208C= (p.Ala403=)
n.894C=
n.1648C=
c.2900C= (p.Ala967=)
c.2603C= (p.Ala868=)
c.821C= (p.Ala274=)
c.2411C= (p.Ala804=)
c.2135C= (p.Ala712=)
c.2399C= (p.Ala800=)
c.2597C= (p.Ala866=)
c.3002C= (p.Ala1001=)
15g.22903793G>TCA391334470CYFIP1c.2495C>A (p.Ala832Glu)
c.2501C>A (p.Ala834Glu)
c.1208C>A (p.Ala403Glu)
n.894C>A
n.1648C>A
c.2900C>A (p.Ala967Glu)
c.2603C>A (p.Ala868Glu)
c.821C>A (p.Ala274Glu)
c.2411C>A (p.Ala804Glu)
c.2135C>A (p.Ala712Glu)
c.2399C>A (p.Ala800Glu)
c.2597C>A (p.Ala866Glu)
c.3002C>A (p.Ala1001Glu)
15g.22903794C>ACA391334473CYFIP1c.2494G>T (p.Ala832Ser)
c.2500G>T (p.Ala834Ser)
c.1207G>T (p.Ala403Ser)
n.893G>T
n.1647G>T
c.2899G>T (p.Ala967Ser)
c.2602G>T (p.Ala868Ser)
c.820G>T (p.Ala274Ser)
c.2410G>T (p.Ala804Ser)
c.2134G>T (p.Ala712Ser)
c.2398G>T (p.Ala800Ser)
c.2596G>T (p.Ala866Ser)
c.3001G>T (p.Ala1001Ser)
dbSNP
15g.22903794C>GCA391334474CYFIP1c.2494G>C (p.Ala832Pro)
c.2500G>C (p.Ala834Pro)
c.1207G>C (p.Ala403Pro)
n.893G>C
n.1647G>C
c.2899G>C (p.Ala967Pro)
c.2602G>C (p.Ala868Pro)
c.820G>C (p.Ala274Pro)
c.2410G>C (p.Ala804Pro)
c.2134G>C (p.Ala712Pro)
c.2398G>C (p.Ala800Pro)
c.2596G>C (p.Ala866Pro)
c.3001G>C (p.Ala1001Pro)
dbSNP
15g.22903794C>TCA391334476CYFIP1c.2494G>A (p.Ala832Thr)
c.2500G>A (p.Ala834Thr)
c.1207G>A (p.Ala403Thr)
n.893G>A
n.1647G>A
c.2899G>A (p.Ala967Thr)
c.2602G>A (p.Ala868Thr)
c.820G>A (p.Ala274Thr)
c.2410G>A (p.Ala804Thr)
c.2134G>A (p.Ala712Thr)
c.2398G>A (p.Ala800Thr)
c.2596G>A (p.Ala866Thr)
c.3001G>A (p.Ala1001Thr)
15g.22903795T>ACA488526463CYFIP1c.2493A>T (p.Ser831=)
c.2499A>T (p.Ser833=)
c.1206A>T (p.Ser402=)
n.892A>T
n.1646A>T
c.2898A>T (p.Ser966=)
c.2601A>T (p.Ser867=)
c.819A>T (p.Ser273=)
c.2409A>T (p.Ser803=)
c.2133A>T (p.Ser711=)
c.2397A>T (p.Ser799=)
c.2595A>T (p.Ser865=)
c.3000A>T (p.Ser1000=)
15g.22903795T>CCA7425117CYFIP1c.2493A>G (p.Ser831=)
c.2499A>G (p.Ser833=)
c.1206A>G (p.Ser402=)
n.892A>G
n.1646A>G
c.2898A>G (p.Ser966=)
c.2601A>G (p.Ser867=)
c.819A>G (p.Ser273=)
c.2409A>G (p.Ser803=)
c.2133A>G (p.Ser711=)
c.2397A>G (p.Ser799=)
c.2595A>G (p.Ser865=)
c.3000A>G (p.Ser1000=)
dbSNP ExAC gnomAD v2
15g.22903795T>GCA488526464CYFIP1c.2493A>C (p.Ser831=)
c.2499A>C (p.Ser833=)
c.1206A>C (p.Ser402=)
n.892A>C
n.1646A>C
c.2898A>C (p.Ser966=)
c.2601A>C (p.Ser867=)
c.819A>C (p.Ser273=)
c.2409A>C (p.Ser803=)
c.2133A>C (p.Ser711=)
c.2397A>C (p.Ser799=)
c.2595A>C (p.Ser865=)
c.3000A>C (p.Ser1000=)
15g.22903795T=CA2163978016CYFIP1c.2493A= (p.Ser831=)
c.2499A= (p.Ser833=)
c.1206A= (p.Ser402=)
n.892A=
n.1646A=
c.2898A= (p.Ser966=)
c.2601A= (p.Ser867=)
c.819A= (p.Ser273=)
c.2409A= (p.Ser803=)
c.2133A= (p.Ser711=)
c.2397A= (p.Ser799=)
c.2595A= (p.Ser865=)
c.3000A= (p.Ser1000=)
15g.22903796G>ACA391334480CYFIP1c.2492C>T (p.Ser831Leu)
c.2498C>T (p.Ser833Leu)
c.1205C>T (p.Ser402Leu)
n.891C>T
n.1645C>T
c.2897C>T (p.Ser966Leu)
c.2600C>T (p.Ser867Leu)
c.818C>T (p.Ser273Leu)
c.2408C>T (p.Ser803Leu)
c.2132C>T (p.Ser711Leu)
c.2396C>T (p.Ser799Leu)
c.2594C>T (p.Ser865Leu)
c.2999C>T (p.Ser1000Leu)
15g.22903796G>CCA391334483CYFIP1c.2492C>G (p.Ser831Ter)
c.2498C>G (p.Ser833Ter)
c.1205C>G (p.Ser402Ter)
n.891C>G
n.1645C>G
c.2897C>G (p.Ser966Ter)
c.2600C>G (p.Ser867Ter)
c.818C>G (p.Ser273Ter)
c.2408C>G (p.Ser803Ter)
c.2132C>G (p.Ser711Ter)
c.2396C>G (p.Ser799Ter)
c.2594C>G (p.Ser865Ter)
c.2999C>G (p.Ser1000Ter)
15g.22903796G>TCA391334479CYFIP1c.2492C>A (p.Ser831Ter)
c.2498C>A (p.Ser833Ter)
c.1205C>A (p.Ser402Ter)
n.891C>A
n.1645C>A
c.2897C>A (p.Ser966Ter)
c.2600C>A (p.Ser867Ter)
c.818C>A (p.Ser273Ter)
c.2408C>A (p.Ser803Ter)
c.2132C>A (p.Ser711Ter)
c.2396C>A (p.Ser799Ter)
c.2594C>A (p.Ser865Ter)
c.2999C>A (p.Ser1000Ter)
15g.22903797A>CCA391334485CYFIP1c.2491T>G (p.Ser831Ala)
c.2497T>G (p.Ser833Ala)
c.1204T>G (p.Ser402Ala)
n.890T>G
n.1644T>G
c.2896T>G (p.Ser966Ala)
c.2599T>G (p.Ser867Ala)
c.817T>G (p.Ser273Ala)
c.2407T>G (p.Ser803Ala)
c.2131T>G (p.Ser711Ala)
c.2395T>G (p.Ser799Ala)
c.2593T>G (p.Ser865Ala)
c.2998T>G (p.Ser1000Ala)
15g.22903797A>GCA391334486CYFIP1c.2491T>C (p.Ser831Pro)
c.2497T>C (p.Ser833Pro)
c.1204T>C (p.Ser402Pro)
n.890T>C
n.1644T>C
c.2896T>C (p.Ser966Pro)
c.2599T>C (p.Ser867Pro)
c.817T>C (p.Ser273Pro)
c.2407T>C (p.Ser803Pro)
c.2131T>C (p.Ser711Pro)
c.2395T>C (p.Ser799Pro)
c.2593T>C (p.Ser865Pro)
c.2998T>C (p.Ser1000Pro)
15g.22903797A>TCA391334489CYFIP1c.2491T>A (p.Ser831Thr)
c.2497T>A (p.Ser833Thr)
c.1204T>A (p.Ser402Thr)
n.890T>A
n.1644T>A
c.2896T>A (p.Ser966Thr)
c.2599T>A (p.Ser867Thr)
c.817T>A (p.Ser273Thr)
c.2407T>A (p.Ser803Thr)
c.2131T>A (p.Ser711Thr)
c.2395T>A (p.Ser799Thr)
c.2593T>A (p.Ser865Thr)
c.2998T>A (p.Ser1000Thr)
gnomAD v4
15g.22903798C>ACA488526467CYFIP1c.2490G>T (p.Val830=)
c.2496G>T (p.Val832=)
c.1203G>T (p.Val401=)
n.889G>T
n.1643G>T
c.2895G>T (p.Val965=)
c.2598G>T (p.Val866=)
c.816G>T (p.Val272=)
c.2406G>T (p.Val802=)
c.2130G>T (p.Val710=)
c.2394G>T (p.Val798=)
c.2592G>T (p.Val864=)
c.2997G>T (p.Val999=)
15g.22903798C>GCA488526465CYFIP1c.2490G>C (p.Val830=)
c.2496G>C (p.Val832=)
c.1203G>C (p.Val401=)
n.889G>C
n.1643G>C
c.2895G>C (p.Val965=)
c.2598G>C (p.Val866=)
c.816G>C (p.Val272=)
c.2406G>C (p.Val802=)
c.2130G>C (p.Val710=)
c.2394G>C (p.Val798=)
c.2592G>C (p.Val864=)
c.2997G>C (p.Val999=)
15g.22903798C>TCA488526466CYFIP1c.2490G>A (p.Val830=)
c.2496G>A (p.Val832=)
c.1203G>A (p.Val401=)
n.889G>A
n.1643G>A
c.2895G>A (p.Val965=)
c.2598G>A (p.Val866=)
c.816G>A (p.Val272=)
c.2406G>A (p.Val802=)
c.2130G>A (p.Val710=)
c.2394G>A (p.Val798=)
c.2592G>A (p.Val864=)
c.2997G>A (p.Val999=)
15g.22903799A=CA2163978019CYFIP1c.2489T= (p.Val830=)
c.2495T= (p.Val832=)
c.1202T= (p.Val401=)
n.888T=
n.1642T=
c.2894T= (p.Val965=)
c.2597T= (p.Val866=)
c.815T= (p.Val272=)
c.2405T= (p.Val802=)
c.2129T= (p.Val710=)
c.2393T= (p.Val798=)
c.2591T= (p.Val864=)
c.2996T= (p.Val999=)
15g.22903799A>CCA391334491CYFIP1c.2489T>G (p.Val830Gly)
c.2495T>G (p.Val832Gly)
c.1202T>G (p.Val401Gly)
n.888T>G
n.1642T>G
c.2894T>G (p.Val965Gly)
c.2597T>G (p.Val866Gly)
c.815T>G (p.Val272Gly)
c.2405T>G (p.Val802Gly)
c.2129T>G (p.Val710Gly)
c.2393T>G (p.Val798Gly)
c.2591T>G (p.Val864Gly)
c.2996T>G (p.Val999Gly)
15g.22903799A>GCA7425116CYFIP1c.2489T>C (p.Val830Ala)
c.2495T>C (p.Val832Ala)
c.1202T>C (p.Val401Ala)
n.888T>C
n.1642T>C
c.2894T>C (p.Val965Ala)
c.2597T>C (p.Val866Ala)
c.815T>C (p.Val272Ala)
c.2405T>C (p.Val802Ala)
c.2129T>C (p.Val710Ala)
c.2393T>C (p.Val798Ala)
c.2591T>C (p.Val864Ala)
c.2996T>C (p.Val999Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.22903799A>TCA391334492CYFIP1c.2489T>A (p.Val830Glu)
c.2495T>A (p.Val832Glu)
c.1202T>A (p.Val401Glu)
n.888T>A
n.1642T>A
c.2894T>A (p.Val965Glu)
c.2597T>A (p.Val866Glu)
c.815T>A (p.Val272Glu)
c.2405T>A (p.Val802Glu)
c.2129T>A (p.Val710Glu)
c.2393T>A (p.Val798Glu)
c.2591T>A (p.Val864Glu)
c.2996T>A (p.Val999Glu)
15g.22903800C>ACA391334495CYFIP1c.2488G>T (p.Val830Leu)
c.2494G>T (p.Val832Leu)
c.1201G>T (p.Val401Leu)
n.887G>T
n.1641G>T
c.2893G>T (p.Val965Leu)
c.2596G>T (p.Val866Leu)
c.814G>T (p.Val272Leu)
c.2404G>T (p.Val802Leu)
c.2128G>T (p.Val710Leu)
c.2392G>T (p.Val798Leu)
c.2590G>T (p.Val864Leu)
c.2995G>T (p.Val999Leu)
15g.22903800C=CA2163978023CYFIP1c.2488G= (p.Val830=)
c.2494G= (p.Val832=)
c.1201G= (p.Val401=)
n.887G=
n.1641G=
c.2893G= (p.Val965=)
c.2596G= (p.Val866=)
c.814G= (p.Val272=)
c.2404G= (p.Val802=)
c.2128G= (p.Val710=)
c.2392G= (p.Val798=)
c.2590G= (p.Val864=)
c.2995G= (p.Val999=)
15g.22903800C>GCA391334497CYFIP1c.2488G>C (p.Val830Leu)
c.2494G>C (p.Val832Leu)
c.1201G>C (p.Val401Leu)
n.887G>C
n.1641G>C
c.2893G>C (p.Val965Leu)
c.2596G>C (p.Val866Leu)
c.814G>C (p.Val272Leu)
c.2404G>C (p.Val802Leu)
c.2128G>C (p.Val710Leu)
c.2392G>C (p.Val798Leu)
c.2590G>C (p.Val864Leu)
c.2995G>C (p.Val999Leu)
dbSNP
15g.22903800C>TCA7425115CYFIP1c.2488G>A (p.Val830Met)
c.2494G>A (p.Val832Met)
c.1201G>A (p.Val401Met)
n.887G>A
n.1641G>A
c.2893G>A (p.Val965Met)
c.2596G>A (p.Val866Met)
c.814G>A (p.Val272Met)
c.2404G>A (p.Val802Met)
c.2128G>A (p.Val710Met)
c.2392G>A (p.Val798Met)
c.2590G>A (p.Val864Met)
c.2995G>A (p.Val999Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.22903801G>ACA267616413CYFIP1c.2487C>T (p.Asn829=)
c.2493C>T (p.Asn831=)
c.1200C>T (p.Asn400=)
n.886C>T
n.1640C>T
c.2892C>T (p.Asn964=)
c.2595C>T (p.Asn865=)
c.813C>T (p.Asn271=)
c.2403C>T (p.Asn801=)
c.2127C>T (p.Asn709=)
c.2391C>T (p.Asn797=)
c.2589C>T (p.Asn863=)
c.2994C>T (p.Asn998=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.22903801G>CCA391334500CYFIP1c.2487C>G (p.Asn829Lys)
c.2493C>G (p.Asn831Lys)
c.1200C>G (p.Asn400Lys)
n.886C>G
n.1640C>G
c.2892C>G (p.Asn964Lys)
c.2595C>G (p.Asn865Lys)
c.813C>G (p.Asn271Lys)
c.2403C>G (p.Asn801Lys)
c.2127C>G (p.Asn709Lys)
c.2391C>G (p.Asn797Lys)
c.2589C>G (p.Asn863Lys)
c.2994C>G (p.Asn998Lys)
15g.22903801G=CA2163978027CYFIP1c.2487C= (p.Asn829=)
c.2493C= (p.Asn831=)
c.1200C= (p.Asn400=)
n.886C=
n.1640C=
c.2892C= (p.Asn964=)
c.2595C= (p.Asn865=)
c.813C= (p.Asn271=)
c.2403C= (p.Asn801=)
c.2127C= (p.Asn709=)
c.2391C= (p.Asn797=)
c.2589C= (p.Asn863=)
c.2994C= (p.Asn998=)
15g.22903801G>TCA391334502CYFIP1c.2487C>A (p.Asn829Lys)
c.2493C>A (p.Asn831Lys)
c.1200C>A (p.Asn400Lys)
n.886C>A
n.1640C>A
c.2892C>A (p.Asn964Lys)
c.2595C>A (p.Asn865Lys)
c.813C>A (p.Asn271Lys)
c.2403C>A (p.Asn801Lys)
c.2127C>A (p.Asn709Lys)
c.2391C>A (p.Asn797Lys)
c.2589C>A (p.Asn863Lys)
c.2994C>A (p.Asn998Lys)
dbSNP gnomAD v3 gnomAD v4
15g.22903802T>ACA391334507CYFIP1c.2486A>T (p.Asn829Ile)
c.2492A>T (p.Asn831Ile)
c.1199A>T (p.Asn400Ile)
n.885A>T
n.1639A>T
c.2891A>T (p.Asn964Ile)
c.2594A>T (p.Asn865Ile)
c.812A>T (p.Asn271Ile)
c.2402A>T (p.Asn801Ile)
c.2126A>T (p.Asn709Ile)
c.2390A>T (p.Asn797Ile)
c.2588A>T (p.Asn863Ile)
c.2993A>T (p.Asn998Ile)
15g.22903802T>CCA391334505CYFIP1c.2486A>G (p.Asn829Ser)
c.2492A>G (p.Asn831Ser)
c.1199A>G (p.Asn400Ser)
n.885A>G
n.1639A>G
c.2891A>G (p.Asn964Ser)
c.2594A>G (p.Asn865Ser)
c.812A>G (p.Asn271Ser)
c.2402A>G (p.Asn801Ser)
c.2126A>G (p.Asn709Ser)
c.2390A>G (p.Asn797Ser)
c.2588A>G (p.Asn863Ser)
c.2993A>G (p.Asn998Ser)
gnomAD v4
15g.22903802T>GCA391334504CYFIP1c.2486A>C (p.Asn829Thr)
c.2492A>C (p.Asn831Thr)
c.1199A>C (p.Asn400Thr)
n.885A>C
n.1639A>C
c.2891A>C (p.Asn964Thr)
c.2594A>C (p.Asn865Thr)
c.812A>C (p.Asn271Thr)
c.2402A>C (p.Asn801Thr)
c.2126A>C (p.Asn709Thr)
c.2390A>C (p.Asn797Thr)
c.2588A>C (p.Asn863Thr)
c.2993A>C (p.Asn998Thr)
15g.22903803T>ACA391334509CYFIP1c.2485A>T (p.Asn829Tyr)
c.2491A>T (p.Asn831Tyr)
c.1198A>T (p.Asn400Tyr)
n.884A>T
n.1638A>T
c.2890A>T (p.Asn964Tyr)
c.2593A>T (p.Asn865Tyr)
c.811A>T (p.Asn271Tyr)
c.2401A>T (p.Asn801Tyr)
c.2125A>T (p.Asn709Tyr)
c.2389A>T (p.Asn797Tyr)
c.2587A>T (p.Asn863Tyr)
c.2992A>T (p.Asn998Tyr)
15g.22903803T>CCA391334511CYFIP1c.2485A>G (p.Asn829Asp)
c.2491A>G (p.Asn831Asp)
c.1198A>G (p.Asn400Asp)
n.884A>G
n.1638A>G
c.2890A>G (p.Asn964Asp)
c.2593A>G (p.Asn865Asp)
c.811A>G (p.Asn271Asp)
c.2401A>G (p.Asn801Asp)
c.2125A>G (p.Asn709Asp)
c.2389A>G (p.Asn797Asp)
c.2587A>G (p.Asn863Asp)
c.2992A>G (p.Asn998Asp)
dbSNP
15g.22903803T>GCA391334512CYFIP1c.2485A>C (p.Asn829His)
c.2491A>C (p.Asn831His)
c.1198A>C (p.Asn400His)
n.884A>C
n.1638A>C
c.2890A>C (p.Asn964His)
c.2593A>C (p.Asn865His)
c.811A>C (p.Asn271His)
c.2401A>C (p.Asn801His)
c.2125A>C (p.Asn709His)
c.2389A>C (p.Asn797His)
c.2587A>C (p.Asn863His)
c.2992A>C (p.Asn998His)

Number of alleles fetched