Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154367548_154367643del | CA2824282109 | FLNA | c.720+3_722del c.639+3_641del c.678+3_680del | |
X | g.154367619T>G | CA2824282117 | FLNA | c.720+22A>C (n.720+22A>C) c.639+22A>C (n.639+22A>C) c.678+22A>C (n.678+22A>C) | |
X | g.154367623C= | CA2466658950 | FLNA | c.720+18G= (n.720+18G=) c.639+18G= (n.639+18G=) c.678+18G= (n.678+18G=) | |
X | g.154367623C>G | CA2545079236 | FLNA | c.720+18G>C (n.720+18G>C) c.639+18G>C (n.639+18G>C) c.678+18G>C (n.678+18G>C) | |
X | g.154367623C>T | CA645290408 | FLNA | c.720+18G>A (n.720+18G>A) c.639+18G>A (n.639+18G>A) c.678+18G>A (n.678+18G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367625G>A | CA1139770921 | FLNA | c.720+16C>T (n.720+16C>T) c.639+16C>T (n.639+16C>T) c.678+16C>T (n.678+16C>T) | |
X | g.154367626G>T | CA2740090207 | FLNA | c.720+15C>A (n.720+15C>A) c.639+15C>A (n.639+15C>A) c.678+15C>A (n.678+15C>A) | ClinVar |
X | g.154367628C= | CA2466658951 | FLNA | c.720+13G= (n.720+13G=) c.639+13G= (n.639+13G=) c.678+13G= (n.678+13G=) | |
X | g.154367628C>T | CA10561375 | FLNA | c.720+13G>A (n.720+13G>A) c.639+13G>A (n.639+13G>A) c.678+13G>A (n.678+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367629G>A | CA10561376 | FLNA | c.720+12C>T (n.720+12C>T) c.639+12C>T (n.639+12C>T) c.678+12C>T (n.678+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367629G= | CA2466658952 | FLNA | c.720+12C= (n.720+12C=) c.639+12C= (n.639+12C=) c.678+12C= (n.678+12C=) | |
X | g.154367631dup | CA2695082969 | FLNA | c.720+12dup (n.720+12dup) c.639+12dup (n.639+12dup) c.678+12dup (n.678+12dup) | gnomAD v4 |
X | g.154367630G>A | CA2466658954 | FLNA | c.720+11C>T (n.720+11C>T) c.639+11C>T (n.639+11C>T) c.678+11C>T (n.678+11C>T) | dbSNP gnomAD v4 |
X | g.154367630G= | CA2466658953 | FLNA | c.720+11C= (n.720+11C=) c.639+11C= (n.639+11C=) c.678+11C= (n.678+11C=) | |
X | g.154367631G>A | CA337284220 | FLNA | c.720+10C>T (n.720+10C>T) c.639+10C>T (n.639+10C>T) c.678+10C>T (n.678+10C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154367631G= | CA2466658955 | FLNA | c.720+10C= (n.720+10C=) c.639+10C= (n.639+10C=) c.678+10C= (n.678+10C=) | |
X | g.154367632C>A | CA10561378 | FLNA | c.720+9G>T (n.720+9G>T) c.639+9G>T (n.639+9G>T) c.678+9G>T (n.678+9G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.154367632C= | CA2466658956 | FLNA | c.720+9G= (n.720+9G=) c.639+9G= (n.639+9G=) c.678+9G= (n.678+9G=) | |
X | g.154367632C>T | CA10561377 | FLNA | c.720+9G>A (n.720+9G>A) c.639+9G>A (n.639+9G>A) c.678+9G>A (n.678+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367633G>A | CA10561379 | FLNA | c.720+8C>T (n.720+8C>T) c.639+8C>T (n.639+8C>T) c.678+8C>T (n.678+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367633G= | CA2466658957 | FLNA | c.720+8C= (n.720+8C=) c.639+8C= (n.639+8C=) c.678+8C= (n.678+8C=) | |
X | g.154367635G>A | CA2837554379 | FLNA | c.720+6C>T (n.720+6C>T) c.639+6C>T (n.639+6C>T) c.678+6C>T (n.678+6C>T) | |
X | g.154367635G>C | CA2466658959 | FLNA | c.720+6C>G (n.720+6C>G) c.639+6C>G (n.639+6C>G) c.678+6C>G (n.678+6C>G) | dbSNP |
X | g.154367635G= | CA2466658958 | FLNA | c.720+6C= (n.720+6C=) c.639+6C= (n.639+6C=) c.678+6C= (n.678+6C=) | |
X | g.154367636T>A | CA2466658961 | FLNA | c.720+5A>T (n.720+5A>T) c.639+5A>T (n.639+5A>T) c.678+5A>T (n.678+5A>T) | ClinVar dbSNP gnomAD v4 |
X | g.154367636T>G | CA2695082972 | FLNA | c.720+5A>C (n.720+5A>C) c.639+5A>C (n.639+5A>C) c.678+5A>C (n.678+5A>C) | gnomAD v4 |
X | g.154367636T= | CA2466658960 | FLNA | c.720+5A= (n.720+5A=) c.639+5A= (n.639+5A=) c.678+5A= (n.678+5A=) | |
X | g.154367637del | CA2695082973 | FLNA | c.720+4del (n.720+4del) c.639+4del (n.639+4del) c.678+4del (n.678+4del) | gnomAD v4 |
X | g.154367637G>A | CA645290409 | FLNA | c.720+4C>T (n.720+4C>T) c.639+4C>T (n.639+4C>T) c.678+4C>T (n.678+4C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154367637G= | CA2466658962 | FLNA | c.720+4C= (n.720+4C=) c.639+4C= (n.639+4C=) c.678+4C= (n.678+4C=) | |
X | g.154367639A= | CA2466658963 | FLNA | c.720+2T= (n.720+2T=) c.639+2T= (n.639+2T=) c.678+2T= (n.678+2T=) | |
X | g.154367639A>C | CA415248722 | FLNA | c.720+2T>G (n.720+2T>G) c.639+2T>G (n.639+2T>G) c.678+2T>G (n.678+2T>G) | |
X | g.154367639A>G | CA278875 | FLNA | c.720+2T>C (n.720+2T>C) c.639+2T>C (n.639+2T>C) c.678+2T>C (n.678+2T>C) | ClinVar dbSNP |
X | g.154367639A>T | CA415248723 | FLNA | c.720+2T>A (n.720+2T>A) c.639+2T>A (n.639+2T>A) c.678+2T>A (n.678+2T>A) | |
X | g.154367640C>A | CA415248724 | FLNA | c.720+1G>T (n.720+1G>T) c.639+1G>T (n.639+1G>T) c.678+1G>T (n.678+1G>T) | |
X | g.154367640C>G | CA415248725 | FLNA | c.720+1G>C (n.720+1G>C) c.639+1G>C (n.639+1G>C) c.678+1G>C (n.678+1G>C) | |
X | g.154367640C>T | CA415248726 | FLNA | c.720+1G>A (n.720+1G>A) c.639+1G>A (n.639+1G>A) c.678+1G>A (n.678+1G>A) | |
X | g.154367641C>A | CA415248727 | FLNA | c.720G>T (p.Gln240His) c.639G>T (p.Gln213His) c.678G>T (p.Gln226His) | |
X | g.154367641C>G | CA415248728 | FLNA | c.720G>C (p.Gln240His) c.639G>C (p.Gln213His) c.678G>C (p.Gln226His) | |
X | g.154367641C>T | CA519709729 | FLNA | c.720G>A (p.Gln240=) c.639G>A (p.Gln213=) c.678G>A (p.Gln226=) | |
X | g.154367642T>A | CA415248729 | FLNA | c.719A>T (p.Gln240Leu) c.638A>T (p.Gln213Leu) c.677A>T (p.Gln226Leu) | |
X | g.154367642T>C | CA415248730 | FLNA | c.719A>G (p.Gln240Arg) c.638A>G (p.Gln213Arg) c.677A>G (p.Gln226Arg) | |
X | g.154367642T>G | CA415248731 | FLNA | c.719A>C (p.Gln240Pro) c.638A>C (p.Gln213Pro) c.677A>C (p.Gln226Pro) | |
X | g.154367643G>A | CA415248732 | FLNA | c.718C>T (p.Gln240Ter) c.637C>T (p.Gln213Ter) c.676C>T (p.Gln226Ter) | |
X | g.154367643G>C | CA415248734 | FLNA | c.718C>G (p.Gln240Glu) c.637C>G (p.Gln213Glu) c.676C>G (p.Gln226Glu) | |
X | g.154367643G>T | CA415248733 | FLNA | c.718C>A (p.Gln240Lys) c.637C>A (p.Gln213Lys) c.676C>A (p.Gln226Lys) | |
X | g.154367644G>A | CA519709747 | FLNA | c.717C>T (p.Pro239=) c.636C>T (p.Pro212=) c.675C>T (p.Pro225=) | ClinVar dbSNP gnomAD v4 |
X | g.154367644G>C | CA337284231 | FLNA | c.717C>G (p.Pro239=) c.636C>G (p.Pro212=) c.675C>G (p.Pro225=) | dbSNP |
X | g.154367644G= | CA2466658964 | FLNA | c.717C= (p.Pro239=) c.636C= (p.Pro212=) c.675C= (p.Pro225=) | |
X | g.154367644G>T | CA519709748 | FLNA | c.717C>A (p.Pro239=) c.636C>A (p.Pro212=) c.675C>A (p.Pro225=) | |
X | g.154367645G>A | CA415248735 | FLNA | c.716C>T (p.Pro239Leu) c.635C>T (p.Pro212Leu) c.674C>T (p.Pro225Leu) | |
X | g.154367645G>C | CA415248736 | FLNA | c.716C>G (p.Pro239Arg) c.635C>G (p.Pro212Arg) c.674C>G (p.Pro225Arg) | |
X | g.154367645G>T | CA415248737 | FLNA | c.716C>A (p.Pro239His) c.635C>A (p.Pro212His) c.674C>A (p.Pro225His) | gnomAD v4 |
X | g.154367646G>A | CA415248738 | FLNA | c.715C>T (p.Pro239Ser) c.634C>T (p.Pro212Ser) c.673C>T (p.Pro225Ser) | |
X | g.154367646G>C | CA415248739 | FLNA | c.715C>G (p.Pro239Ala) c.634C>G (p.Pro212Ala) c.673C>G (p.Pro225Ala) | |
X | g.154367646G>T | CA415248740 | FLNA | c.715C>A (p.Pro239Thr) c.634C>A (p.Pro212Thr) c.673C>A (p.Pro225Thr) | |
X | g.154367647G>A | CA519709767 | FLNA | c.714C>T (p.Ile238=) c.633C>T (p.Ile211=) c.672C>T (p.Ile224=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367647G>C | CA415248741 | FLNA | c.714C>G (p.Ile238Met) c.633C>G (p.Ile211Met) c.672C>G (p.Ile224Met) | ClinVar dbSNP |
X | g.154367647G= | CA2466658965 | FLNA | c.714C= (p.Ile238=) c.633C= (p.Ile211=) c.672C= (p.Ile224=) | |
X | g.154367647G>T | CA519709769 | FLNA | c.714C>A (p.Ile238=) c.633C>A (p.Ile211=) c.672C>A (p.Ile224=) | |
X | g.154367648A>C | CA415248742 | FLNA | c.713T>G (p.Ile238Ser) c.632T>G (p.Ile211Ser) c.671T>G (p.Ile224Ser) | |
X | g.154367648A>G | CA415248743 | FLNA | c.713T>C (p.Ile238Thr) c.632T>C (p.Ile211Thr) c.671T>C (p.Ile224Thr) | |
X | g.154367648A>T | CA415248744 | FLNA | c.713T>A (p.Ile238Asn) c.632T>A (p.Ile211Asn) c.671T>A (p.Ile224Asn) | |
X | g.154367649T>A | CA415248745 | FLNA | c.712A>T (p.Ile238Phe) c.631A>T (p.Ile211Phe) c.670A>T (p.Ile224Phe) | |
X | g.154367649T>C | CA415248747 | FLNA | c.712A>G (p.Ile238Val) c.631A>G (p.Ile211Val) c.670A>G (p.Ile224Val) | |
X | g.154367649T>G | CA415248746 | FLNA | c.712A>C (p.Ile238Leu) c.631A>C (p.Ile211Leu) c.670A>C (p.Ile224Leu) | |
X | g.154367650G>A | CA519709778 | FLNA | c.711C>T (p.Gly237=) c.630C>T (p.Gly210=) c.669C>T (p.Gly223=) | |
X | g.154367650G>C | CA519709780 | FLNA | c.711C>G (p.Gly237=) c.630C>G (p.Gly210=) c.669C>G (p.Gly223=) | |
X | g.154367650G>T | CA519709781 | FLNA | c.711C>A (p.Gly237=) c.630C>A (p.Gly210=) c.669C>A (p.Gly223=) | |
X | g.154367651C>A | CA415248748 | FLNA | c.710G>T (p.Gly237Val) c.629G>T (p.Gly210Val) c.668G>T (p.Gly223Val) | |
X | g.154367651C= | CA2466658966 | FLNA | c.710G= (p.Gly237=) c.629G= (p.Gly210=) c.668G= (p.Gly223=) | |
X | g.154367651C>G | CA415248750 | FLNA | c.710G>C (p.Gly237Ala) c.629G>C (p.Gly210Ala) c.668G>C (p.Gly223Ala) | |
X | g.154367651C>T | CA415248749 | FLNA | c.710G>A (p.Gly237Asp) c.629G>A (p.Gly210Asp) c.668G>A (p.Gly223Asp) | dbSNP |
X | g.154367652C>A | CA415248751 | FLNA | c.709G>T (p.Gly237Cys) c.628G>T (p.Gly210Cys) c.667G>T (p.Gly223Cys) | |
X | g.154367652C>G | CA415248753 | FLNA | c.709G>C (p.Gly237Arg) c.628G>C (p.Gly210Arg) c.667G>C (p.Gly223Arg) | |
X | g.154367652C>T | CA415248752 | FLNA | c.709G>A (p.Gly237Ser) c.628G>A (p.Gly210Ser) c.667G>A (p.Gly223Ser) | |
X | g.154367653C>A | CA519709788 | FLNA | c.708G>T (p.Leu236=) c.627G>T (p.Leu209=) c.666G>T (p.Leu222=) | |
X | g.154367653C>G | CA519709790 | FLNA | c.708G>C (p.Leu236=) c.627G>C (p.Leu209=) c.666G>C (p.Leu222=) | ClinVar |
X | g.154367653C>T | CA519709789 | FLNA | c.708G>A (p.Leu236=) c.627G>A (p.Leu209=) c.666G>A (p.Leu222=) | ClinVar dbSNP gnomAD v4 |
X | g.154367654A>C | CA415248754 | FLNA | c.707T>G (p.Leu236Arg) c.626T>G (p.Leu209Arg) c.665T>G (p.Leu222Arg) | |
X | g.154367654A>G | CA415248756 | FLNA | c.707T>C (p.Leu236Pro) c.626T>C (p.Leu209Pro) c.665T>C (p.Leu222Pro) | |
X | g.154367654A>T | CA415248755 | FLNA | c.707T>A (p.Leu236Gln) c.626T>A (p.Leu209Gln) c.665T>A (p.Leu222Gln) | |
X | g.154367655G>A | CA519709794 | FLNA | c.706C>T (p.Leu236=) c.625C>T (p.Leu209=) c.664C>T (p.Leu222=) | dbSNP |
X | g.154367655G>C | CA415248757 | FLNA | c.706C>G (p.Leu236Val) c.625C>G (p.Leu209Val) c.664C>G (p.Leu222Val) | |
X | g.154367655G= | CA2466658967 | FLNA | c.706C= (p.Leu236=) c.625C= (p.Leu209=) c.664C= (p.Leu222=) | |
X | g.154367655G>T | CA415248758 | FLNA | c.706C>A (p.Leu236Met) c.625C>A (p.Leu209Met) c.664C>A (p.Leu222Met) | |
X | g.154367656C>A | CA415248759 | FLNA | c.705G>T (p.Trp235Cys) c.624G>T (p.Trp208Cys) c.663G>T (p.Trp221Cys) | |
X | g.154367656C= | CA2466658968 | FLNA | c.705G= (p.Trp235=) c.624G= (p.Trp208=) c.663G= (p.Trp221=) | |
X | g.154367656C>G | CA415248761 | FLNA | c.705G>C (p.Trp235Cys) c.624G>C (p.Trp208Cys) c.663G>C (p.Trp221Cys) | |
X | g.154367656C>T | CA415248760 | FLNA | c.705G>A (p.Trp235Ter) c.624G>A (p.Trp208Ter) c.663G>A (p.Trp221Ter) | ClinVar dbSNP |
X | g.154367657C>A | CA415248762 | FLNA | c.704G>T (p.Trp235Leu) c.623G>T (p.Trp208Leu) c.662G>T (p.Trp221Leu) | |
X | g.154367657C>G | CA415248764 | FLNA | c.704G>C (p.Trp235Ser) c.623G>C (p.Trp208Ser) c.662G>C (p.Trp221Ser) | |
X | g.154367657C>T | CA415248763 | FLNA | c.704G>A (p.Trp235Ter) c.623G>A (p.Trp208Ter) c.662G>A (p.Trp221Ter) | |
X | g.154367658A>C | CA415248765 | FLNA | c.703T>G (p.Trp235Gly) c.622T>G (p.Trp208Gly) c.661T>G (p.Trp221Gly) | |
X | g.154367658A>G | CA415248766 | FLNA | c.703T>C (p.Trp235Arg) c.622T>C (p.Trp208Arg) c.661T>C (p.Trp221Arg) | |
X | g.154367658A>T | CA415248767 | FLNA | c.703T>A (p.Trp235Arg) c.622T>A (p.Trp208Arg) c.661T>A (p.Trp221Arg) | |
X | g.154367659G>A | CA519709806 | FLNA | c.702C>T (p.Asp234=) c.621C>T (p.Asp207=) c.660C>T (p.Asp220=) | |
X | g.154367659G>C | CA415248768 | FLNA | c.702C>G (p.Asp234Glu) c.621C>G (p.Asp207Glu) c.660C>G (p.Asp220Glu) | |
X | g.154367659G>T | CA415248769 | FLNA | c.702C>A (p.Asp234Glu) c.621C>A (p.Asp207Glu) c.660C>A (p.Asp220Glu) | |
X | g.154367660T>A | CA415248770 | FLNA | c.701A>T (p.Asp234Val) c.620A>T (p.Asp207Val) c.659A>T (p.Asp220Val) | |
X | g.154367660T>C | CA415248771 | FLNA | c.701A>G (p.Asp234Gly) c.620A>G (p.Asp207Gly) c.659A>G (p.Asp220Gly) | |
X | g.154367660T>G | CA415248772 | FLNA | c.701A>C (p.Asp234Ala) c.620A>C (p.Asp207Ala) c.659A>C (p.Asp220Ala) | |
X | g.154367661C>A | CA415248775 | FLNA | c.700G>T (p.Asp234Tyr) c.619G>T (p.Asp207Tyr) c.658G>T (p.Asp220Tyr) | |
X | g.154367661C>G | CA415248774 | FLNA | c.700G>C (p.Asp234His) c.619G>C (p.Asp207His) c.658G>C (p.Asp220His) | |
X | g.154367661C>T | CA415248773 | FLNA | c.700G>A (p.Asp234Asn) c.619G>A (p.Asp207Asn) c.658G>A (p.Asp220Asn) | |
X | g.154367662A= | CA2466658969 | FLNA | c.699T= (p.Asp233=) c.618T= (p.Asp206=) c.657T= (p.Asp219=) | |
X | g.154367662A>C | CA415248776 | FLNA | c.699T>G (p.Asp233Glu) c.618T>G (p.Asp206Glu) c.657T>G (p.Asp219Glu) | |
X | g.154367662A>G | CA519709818 | FLNA | c.699T>C (p.Asp233=) c.618T>C (p.Asp206=) c.657T>C (p.Asp219=) | dbSNP |
X | g.154367662A>T | CA415248777 | FLNA | c.699T>A (p.Asp233Glu) c.618T>A (p.Asp206Glu) c.657T>A (p.Asp219Glu) | |
X | g.154367663del | CA2695236981 | FLNA | c.698del (p.Asp233ValfsTer9) c.617del (p.Asp206ValfsTer9) c.656del (p.Asp219ValfsTer9) | |
X | g.154367663T>A | CA415248778 | FLNA | c.698A>T (p.Asp233Val) c.617A>T (p.Asp206Val) c.656A>T (p.Asp219Val) | |
X | g.154367663T>C | CA415248779 | FLNA | c.698A>G (p.Asp233Gly) c.617A>G (p.Asp206Gly) c.656A>G (p.Asp219Gly) | |
X | g.154367663T>G | CA415248780 | FLNA | c.698A>C (p.Asp233Ala) c.617A>C (p.Asp206Ala) c.656A>C (p.Asp219Ala) | |
X | g.154367664C>A | CA415248781 | FLNA | c.697G>T (p.Asp233Tyr) c.616G>T (p.Asp206Tyr) c.655G>T (p.Asp219Tyr) | |
X | g.154367664C>G | CA415248782 | FLNA | c.697G>C (p.Asp233His) c.616G>C (p.Asp206His) c.655G>C (p.Asp219His) | |
X | g.154367664C>T | CA415248783 | FLNA | c.697G>A (p.Asp233Asn) c.616G>A (p.Asp206Asn) c.655G>A (p.Asp219Asn) | gnomAD v4 |
X | g.154367665C>A | CA519709826 | FLNA | c.696G>T (p.Ala232=) c.615G>T (p.Ala205=) c.654G>T (p.Ala218=) | |
X | g.154367665C= | CA2466658970 | FLNA | c.696G= (p.Ala232=) c.615G= (p.Ala205=) c.654G= (p.Ala218=) | |
X | g.154367665C>G | CA519709827 | FLNA | c.696G>C (p.Ala232=) c.615G>C (p.Ala205=) c.654G>C (p.Ala218=) | |
X | g.154367665C>T | CA337284233 | FLNA | c.696G>A (p.Ala232=) c.615G>A (p.Ala205=) c.654G>A (p.Ala218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367666G>A | CA415248785 | FLNA | c.695C>T (p.Ala232Val) c.614C>T (p.Ala205Val) c.653C>T (p.Ala218Val) | ClinVar dbSNP |
X | g.154367666G>C | CA415248786 | FLNA | c.695C>G (p.Ala232Gly) c.614C>G (p.Ala205Gly) c.653C>G (p.Ala218Gly) | ClinVar |
X | g.154367666G= | CA2466658971 | FLNA | c.695C= (p.Ala232=) c.614C= (p.Ala205=) c.653C= (p.Ala218=) | |
X | g.154367666G>T | CA415248784 | FLNA | c.695C>A (p.Ala232Glu) c.614C>A (p.Ala205Glu) c.653C>A (p.Ala218Glu) | |
X | g.154367667C>A | CA415248787 | FLNA | c.694G>T (p.Ala232Ser) c.613G>T (p.Ala205Ser) c.652G>T (p.Ala218Ser) | |
X | g.154367667C>G | CA415248788 | FLNA | c.694G>C (p.Ala232Pro) c.613G>C (p.Ala205Pro) c.652G>C (p.Ala218Pro) | |
X | g.154367667C>T | CA415248789 | FLNA | c.694G>A (p.Ala232Thr) c.613G>A (p.Ala205Thr) c.652G>A (p.Ala218Thr) | |
X | g.154367668C>A | CA415248790 | FLNA | c.693G>T (p.Gln231His) c.612G>T (p.Gln204His) c.651G>T (p.Gln217His) | |
X | g.154367668C>G | CA415248791 | FLNA | c.693G>C (p.Gln231His) c.612G>C (p.Gln204His) c.651G>C (p.Gln217His) | |
X | g.154367668C>T | CA519709843 | FLNA | c.693G>A (p.Gln231=) c.612G>A (p.Gln204=) c.651G>A (p.Gln217=) | ClinVar dbSNP |
X | g.154367669T>A | CA415248792 | FLNA | c.692A>T (p.Gln231Leu) c.611A>T (p.Gln204Leu) c.650A>T (p.Gln217Leu) | |
X | g.154367669T>C | CA415248793 | FLNA | c.692A>G (p.Gln231Arg) c.611A>G (p.Gln204Arg) c.650A>G (p.Gln217Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154367669T>G | CA415248794 | FLNA | c.692A>C (p.Gln231Pro) c.611A>C (p.Gln204Pro) c.650A>C (p.Gln217Pro) | |
X | g.154367669T= | CA2466658972 | FLNA | c.692A= (p.Gln231=) c.611A= (p.Gln204=) c.650A= (p.Gln217=) | |
X | g.154367670G>A | CA415248795 | FLNA | c.691C>T (p.Gln231Ter) c.610C>T (p.Gln204Ter) c.649C>T (p.Gln217Ter) | ClinVar |
X | g.154367670G>C | CA415248796 | FLNA | c.691C>G (p.Gln231Glu) c.610C>G (p.Gln204Glu) c.649C>G (p.Gln217Glu) | |
X | g.154367670G>T | CA415248797 | FLNA | c.691C>A (p.Gln231Lys) c.610C>A (p.Gln204Lys) c.649C>A (p.Gln217Lys) | |
X | g.154367671C>A | CA415248799 | FLNA | c.690G>T (p.Gln230His) c.609G>T (p.Gln203His) c.648G>T (p.Gln216His) | |
X | g.154367671C= | CA2466658973 | FLNA | c.690G= (p.Gln230=) c.609G= (p.Gln203=) c.648G= (p.Gln216=) | |
X | g.154367671C>G | CA415248798 | FLNA | c.690G>C (p.Gln230His) c.609G>C (p.Gln203His) c.648G>C (p.Gln216His) | |
X | g.154367671C>T | CA519709851 | FLNA | c.690G>A (p.Gln230=) c.609G>A (p.Gln203=) c.648G>A (p.Gln216=) | ClinVar dbSNP gnomAD v4 |
X | g.154367672T>A | CA415248800 | FLNA | c.689A>T (p.Gln230Leu) c.608A>T (p.Gln203Leu) c.647A>T (p.Gln216Leu) | |
X | g.154367672T>C | CA415248801 | FLNA | c.689A>G (p.Gln230Arg) c.608A>G (p.Gln203Arg) c.647A>G (p.Gln216Arg) | |
X | g.154367672T>G | CA415248802 | FLNA | c.689A>C (p.Gln230Pro) c.608A>C (p.Gln203Pro) c.647A>C (p.Gln216Pro) | |
X | g.154367673G>A | CA415248803 | FLNA | c.688C>T (p.Gln230Ter) c.607C>T (p.Gln203Ter) c.646C>T (p.Gln216Ter) | |
X | g.154367673G>C | CA415248804 | FLNA | c.688C>G (p.Gln230Glu) c.607C>G (p.Gln203Glu) c.646C>G (p.Gln216Glu) | |
X | g.154367673G>T | CA415248805 | FLNA | c.688C>A (p.Gln230Lys) c.607C>A (p.Gln203Lys) c.646C>A (p.Gln216Lys) | |
X | g.154367674C>A | CA10604670 | FLNA | c.687G>T (p.Met229Ile) c.606G>T (p.Met202Ile) c.645G>T (p.Met215Ile) | ClinVar dbSNP |
X | g.154367674C= | CA2466658974 | FLNA | c.687G= (p.Met229=) c.606G= (p.Met202=) c.645G= (p.Met215=) | |
X | g.154367674C>G | CA415248806 | FLNA | c.687G>C (p.Met229Ile) c.606G>C (p.Met202Ile) c.645G>C (p.Met215Ile) | |
X | g.154367674C>T | CA415248807 | FLNA | c.687G>A (p.Met229Ile) c.606G>A (p.Met202Ile) c.645G>A (p.Met215Ile) | ClinVar dbSNP |
X | g.154367675A>C | CA415248808 | FLNA | c.686T>G (p.Met229Arg) c.605T>G (p.Met202Arg) c.644T>G (p.Met215Arg) | |
X | g.154367675A>G | CA415248809 | FLNA | c.686T>C (p.Met229Thr) c.605T>C (p.Met202Thr) c.644T>C (p.Met215Thr) | |
X | g.154367675A>T | CA415248810 | FLNA | c.686T>A (p.Met229Lys) c.605T>A (p.Met202Lys) c.644T>A (p.Met215Lys) | |
X | g.154367676T>A | CA415248812 | FLNA | c.685A>T (p.Met229Leu) c.604A>T (p.Met202Leu) c.643A>T (p.Met215Leu) | |
X | g.154367676T>C | CA415248813 | FLNA | c.685A>G (p.Met229Val) c.604A>G (p.Met202Val) c.643A>G (p.Met215Val) | |
X | g.154367676T>G | CA415248811 | FLNA | c.685A>C (p.Met229Leu) c.604A>C (p.Met202Leu) c.643A>C (p.Met215Leu) | |
X | g.154367677G>A | CA519709863 | FLNA | c.684C>T (p.Ala228=) c.603C>T (p.Ala201=) c.642C>T (p.Ala214=) | |
X | g.154367677G>C | CA519709868 | FLNA | c.684C>G (p.Ala228=) c.603C>G (p.Ala201=) c.642C>G (p.Ala214=) | |
X | g.154367677G>T | CA519709870 | FLNA | c.684C>A (p.Ala228=) c.603C>A (p.Ala201=) c.642C>A (p.Ala214=) | |
X | g.154367678G>A | CA415248816 | FLNA | c.683C>T (p.Ala228Val) c.602C>T (p.Ala201Val) c.641C>T (p.Ala214Val) | |
X | g.154367678G>C | CA415248814 | FLNA | c.683C>G (p.Ala228Gly) c.602C>G (p.Ala201Gly) c.641C>G (p.Ala214Gly) | |
X | g.154367678G>T | CA415248815 | FLNA | c.683C>A (p.Ala228Asp) c.602C>A (p.Ala201Asp) c.641C>A (p.Ala214Asp) | |
X | g.154367679C>A | CA415248817 | FLNA | c.682G>T (p.Ala228Ser) c.601G>T (p.Ala201Ser) c.640G>T (p.Ala214Ser) | ClinVar dbSNP |
X | g.154367679C>G | CA415248818 | FLNA | c.682G>C (p.Ala228Pro) c.601G>C (p.Ala201Pro) c.640G>C (p.Ala214Pro) | |
X | g.154367679C>T | CA415248819 | FLNA | c.682G>A (p.Ala228Thr) c.601G>A (p.Ala201Thr) c.640G>A (p.Ala214Thr) | |
X | g.154367680C>A | CA415248820 | FLNA | c.681G>T (p.Glu227Asp) c.600G>T (p.Glu200Asp) c.639G>T (p.Glu213Asp) | |
X | g.154367680C>G | CA415248821 | FLNA | c.681G>C (p.Glu227Asp) c.600G>C (p.Glu200Asp) c.639G>C (p.Glu213Asp) | |
X | g.154367680C>T | CA519709875 | FLNA | c.681G>A (p.Glu227=) c.600G>A (p.Glu200=) c.639G>A (p.Glu213=) | |
X | g.154367681T>A | CA415248822 | FLNA | c.680A>T (p.Glu227Val) c.599A>T (p.Glu200Val) c.638A>T (p.Glu213Val) | |
X | g.154367681T>C | CA415248823 | FLNA | c.680A>G (p.Glu227Gly) c.599A>G (p.Glu200Gly) c.638A>G (p.Glu213Gly) | |
X | g.154367681T>G | CA415248824 | FLNA | c.680A>C (p.Glu227Ala) c.599A>C (p.Glu200Ala) c.638A>C (p.Glu213Ala) | |
X | g.154367682C>A | CA415248827 | FLNA | c.679G>T (p.Glu227Ter) c.598G>T (p.Glu200Ter) c.637G>T (p.Glu213Ter) | |
X | g.154367682C>G | CA415248826 | FLNA | c.679G>C (p.Glu227Gln) c.598G>C (p.Glu200Gln) c.637G>C (p.Glu213Gln) | |
X | g.154367682C>T | CA415248825 | FLNA | c.679G>A (p.Glu227Lys) c.598G>A (p.Glu200Lys) c.637G>A (p.Glu213Lys) | |
X | g.154367683T>A | CA519709881 | FLNA | c.678A>T (p.Arg226=) c.597A>T (p.Arg199=) c.636A>T (p.Arg212=) | |
X | g.154367683T>C | CA519709883 | FLNA | c.678A>G (p.Arg226=) c.597A>G (p.Arg199=) c.636A>G (p.Arg212=) | |
X | g.154367683T>G | CA519709884 | FLNA | c.678A>C (p.Arg226=) c.597A>C (p.Arg199=) c.636A>C (p.Arg212=) | |
X | g.154367684C>A | CA415248828 | FLNA | c.677G>T (p.Arg226Leu) c.596G>T (p.Arg199Leu) c.635G>T (p.Arg212Leu) | |
X | g.154367684C= | CA2466658975 | FLNA | c.677G= (p.Arg226=) c.596G= (p.Arg199=) c.635G= (p.Arg212=) | |
X | g.154367684C>G | CA415248829 | FLNA | c.677G>C (p.Arg226Pro) c.596G>C (p.Arg199Pro) c.635G>C (p.Arg212Pro) | |
X | g.154367684C>T | CA415248830 | FLNA | c.677G>A (p.Arg226Gln) c.596G>A (p.Arg199Gln) c.635G>A (p.Arg212Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.154367685G>A | CA415248831 | FLNA | c.676C>T (p.Arg226Ter) c.595C>T (p.Arg199Ter) c.634C>T (p.Arg212Ter) | ClinVar dbSNP |
X | g.154367685G>C | CA415248832 | FLNA | c.676C>G (p.Arg226Gly) c.595C>G (p.Arg199Gly) c.634C>G (p.Arg212Gly) | ClinVar dbSNP |
X | g.154367685G= | CA2466658976 | FLNA | c.676C= (p.Arg226=) c.595C= (p.Arg199=) c.634C= (p.Arg212=) | |
X | g.154367685G>T | CA519709890 | FLNA | c.676C>A (p.Arg226=) c.595C>A (p.Arg199=) c.634C>A (p.Arg212=) | |
X | g.154367686C>A | CA519709891 | FLNA | c.675G>T (p.Ala225=) c.594G>T (p.Ala198=) c.633G>T (p.Ala211=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154367686C= | CA2466658977 | FLNA | c.675G= (p.Ala225=) c.594G= (p.Ala198=) c.633G= (p.Ala211=) | |
X | g.154367686C>G | CA519709892 | FLNA | c.675G>C (p.Ala225=) c.594G>C (p.Ala198=) c.633G>C (p.Ala211=) | |
X | g.154367686C>T | CA10561380 | FLNA | c.675G>A (p.Ala225=) c.594G>A (p.Ala198=) c.633G>A (p.Ala211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367687G>A | CA415248833 | FLNA | c.674C>T (p.Ala225Val) c.593C>T (p.Ala198Val) c.632C>T (p.Ala211Val) | gnomAD v4 COSMIC COSMIC |
X | g.154367687G>C | CA415248834 | FLNA | c.674C>G (p.Ala225Gly) c.593C>G (p.Ala198Gly) c.632C>G (p.Ala211Gly) | |
X | g.154367687G>T | CA415248835 | FLNA | c.674C>A (p.Ala225Glu) c.593C>A (p.Ala198Glu) c.632C>A (p.Ala211Glu) | |
X | g.154367688C>A | CA415248836 | FLNA | c.673G>T (p.Ala225Ser) c.592G>T (p.Ala198Ser) c.631G>T (p.Ala211Ser) | |
X | g.154367688C>G | CA415248837 | FLNA | c.673G>C (p.Ala225Pro) c.592G>C (p.Ala198Pro) c.631G>C (p.Ala211Pro) | |
X | g.154367688C>T | CA415248838 | FLNA | c.673G>A (p.Ala225Thr) c.592G>A (p.Ala198Thr) c.631G>A (p.Ala211Thr) | |
X | g.154367689A>C | CA415248840 | FLNA | c.672T>G (p.Asn224Lys) c.591T>G (p.Asn197Lys) c.630T>G (p.Asn210Lys) | |
X | g.154367689A>G | CA519709904 | FLNA | c.672T>C (p.Asn224=) c.591T>C (p.Asn197=) c.630T>C (p.Asn210=) | |
X | g.154367689A>T | CA415248839 | FLNA | c.672T>A (p.Asn224Lys) c.591T>A (p.Asn197Lys) c.630T>A (p.Asn210Lys) | |
X | g.154367690T>A | CA415248841 | FLNA | c.671A>T (p.Asn224Ile) c.590A>T (p.Asn197Ile) c.629A>T (p.Asn210Ile) | |
X | g.154367690T>C | CA415248842 | FLNA | c.671A>G (p.Asn224Ser) c.590A>G (p.Asn197Ser) c.629A>G (p.Asn210Ser) | ClinVar |
X | g.154367690T>G | CA415248843 | FLNA | c.671A>C (p.Asn224Thr) c.590A>C (p.Asn197Thr) c.629A>C (p.Asn210Thr) | |
X | g.154367691T>A | CA415248844 | FLNA | c.670A>T (p.Asn224Tyr) c.589A>T (p.Asn197Tyr) c.628A>T (p.Asn210Tyr) | |
X | g.154367691T>C | CA415248845 | FLNA | c.670A>G (p.Asn224Asp) c.589A>G (p.Asn197Asp) c.628A>G (p.Asn210Asp) | |
X | g.154367691T>G | CA415248846 | FLNA | c.670A>C (p.Asn224His) c.589A>C (p.Asn197His) c.628A>C (p.Asn210His) | |
X | g.154367692G>A | CA519709913 | FLNA | c.669C>T (p.Thr223=) c.588C>T (p.Thr196=) c.627C>T (p.Thr209=) | |
X | g.154367692G>C | CA519709914 | FLNA | c.669C>G (p.Thr223=) c.588C>G (p.Thr196=) c.627C>G (p.Thr209=) | |
X | g.154367692G>T | CA519709916 | FLNA | c.669C>A (p.Thr223=) c.588C>A (p.Thr196=) c.627C>A (p.Thr209=) | |
X | g.154367693G>A | CA415248847 | FLNA | c.668C>T (p.Thr223Ile) c.587C>T (p.Thr196Ile) c.626C>T (p.Thr209Ile) | gnomAD v4 |
X | g.154367693G>C | CA415248848 | FLNA | c.668C>G (p.Thr223Ser) c.587C>G (p.Thr196Ser) c.626C>G (p.Thr209Ser) | |
X | g.154367693G>T | CA415248849 | FLNA | c.668C>A (p.Thr223Asn) c.587C>A (p.Thr196Asn) c.626C>A (p.Thr209Asn) | |
X | g.154367694T>A | CA415248850 | FLNA | c.667A>T (p.Thr223Ser) c.586A>T (p.Thr196Ser) c.625A>T (p.Thr209Ser) | |
X | g.154367694T>C | CA415248851 | FLNA | c.667A>G (p.Thr223Ala) c.586A>G (p.Thr196Ala) c.625A>G (p.Thr209Ala) | |
X | g.154367694T>G | CA415248852 | FLNA | c.667A>C (p.Thr223Pro) c.586A>C (p.Thr196Pro) c.625A>C (p.Thr209Pro) | |
X | g.154367695A= | CA2466658978 | FLNA | c.666T= (p.Val222=) c.585T= (p.Val195=) c.624T= (p.Val208=) | |
X | g.154367695A>C | CA519709617 | FLNA | c.666T>G (p.Val222=) c.585T>G (p.Val195=) c.624T>G (p.Val208=) | |
X | g.154367695A>G | CA519709619 | FLNA | c.666T>C (p.Val222=) c.585T>C (p.Val195=) c.624T>C (p.Val208=) | |
X | g.154367695A>T | CA519709620 | FLNA | c.666T>A (p.Val222=) c.585T>A (p.Val195=) c.624T>A (p.Val208=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367696A>C | CA415248855 | FLNA | c.665T>G (p.Val222Gly) c.584T>G (p.Val195Gly) c.623T>G (p.Val208Gly) | |
X | g.154367696A>G | CA415248853 | FLNA | c.665T>C (p.Val222Ala) c.584T>C (p.Val195Ala) c.623T>C (p.Val208Ala) | |
X | g.154367696A>T | CA415248854 | FLNA | c.665T>A (p.Val222Asp) c.584T>A (p.Val195Asp) c.623T>A (p.Val208Asp) | |
X | g.154367697C>A | CA415248856 | FLNA | c.664G>T (p.Val222Phe) c.583G>T (p.Val195Phe) c.622G>T (p.Val208Phe) | |
X | g.154367697C= | CA2466658979 | FLNA | c.664G= (p.Val222=) c.583G= (p.Val195=) c.622G= (p.Val208=) | |
X | g.154367697C>G | CA415248857 | FLNA | c.664G>C (p.Val222Leu) c.583G>C (p.Val195Leu) c.622G>C (p.Val208Leu) | |
X | g.154367697C>T | CA337284253 | FLNA | c.664G>A (p.Val222Ile) c.583G>A (p.Val195Ile) c.622G>A (p.Val208Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.154367698G>A | CA288871 | FLNA | c.663C>T (p.Pro221=) c.582C>T (p.Pro194=) c.621C>T (p.Pro207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367698G>C | CA519709625 | FLNA | c.663C>G (p.Pro221=) c.582C>G (p.Pro194=) c.621C>G (p.Pro207=) | |
X | g.154367698G= | CA2466658980 | FLNA | c.663C= (p.Pro221=) c.582C= (p.Pro194=) c.621C= (p.Pro207=) | |
X | g.154367698G>T | CA519709626 | FLNA | c.663C>A (p.Pro221=) c.582C>A (p.Pro194=) c.621C>A (p.Pro207=) | ClinVar gnomAD v4 |
X | g.154367699G>A | CA415248858 | FLNA | c.662C>T (p.Pro221Leu) c.581C>T (p.Pro194Leu) c.620C>T (p.Pro207Leu) | |
X | g.154367699G>C | CA415248859 | FLNA | c.662C>G (p.Pro221Arg) c.581C>G (p.Pro194Arg) c.620C>G (p.Pro207Arg) | |
X | g.154367699G>T | CA415248860 | FLNA | c.662C>A (p.Pro221His) c.581C>A (p.Pro194His) c.620C>A (p.Pro207His) | |
X | g.154367700G>A | CA415248861 | FLNA | c.661C>T (p.Pro221Ser) c.580C>T (p.Pro194Ser) c.619C>T (p.Pro207Ser) | |
X | g.154367700G>C | CA415248862 | FLNA | c.661C>G (p.Pro221Ala) c.580C>G (p.Pro194Ala) c.619C>G (p.Pro207Ala) | |
X | g.154367700G>T | CA415248863 | FLNA | c.661C>A (p.Pro221Thr) c.580C>A (p.Pro194Thr) c.619C>A (p.Pro207Thr) | |
X | g.154367701C>A | CA415248864 | FLNA | c.660G>T (p.Lys220Asn) c.579G>T (p.Lys193Asn) c.618G>T (p.Lys206Asn) | |
X | g.154367701C>G | CA415248865 | FLNA | c.660G>C (p.Lys220Asn) c.579G>C (p.Lys193Asn) c.618G>C (p.Lys206Asn) | |
X | g.154367701C>T | CA519709635 | FLNA | c.660G>A (p.Lys220=) c.579G>A (p.Lys193=) c.618G>A (p.Lys206=) | gnomAD v4 |
X | g.154367702T>A | CA415248867 | FLNA | c.659A>T (p.Lys220Met) c.578A>T (p.Lys193Met) c.617A>T (p.Lys206Met) | |
X | g.154367702T>C | CA415248868 | FLNA | c.659A>G (p.Lys220Arg) c.578A>G (p.Lys193Arg) c.617A>G (p.Lys206Arg) | ClinVar |
X | g.154367702T>G | CA415248866 | FLNA | c.659A>C (p.Lys220Thr) c.578A>C (p.Lys193Thr) c.617A>C (p.Lys206Thr) | |
X | g.154367703T>A | CA415248870 | FLNA | c.658A>T (p.Lys220Ter) c.577A>T (p.Lys193Ter) c.616A>T (p.Lys206Ter) | |
X | g.154367703T>C | CA415248869 | FLNA | c.658A>G (p.Lys220Glu) c.577A>G (p.Lys193Glu) c.616A>G (p.Lys206Glu) | |
X | g.154367703T>G | CA415248871 | FLNA | c.658A>C (p.Lys220Gln) c.577A>C (p.Lys193Gln) c.616A>C (p.Lys206Gln) | |
X | g.154367704G>A | CA519709647 | FLNA | c.657C>T (p.Ser219=) c.576C>T (p.Ser192=) c.615C>T (p.Ser205=) | |
X | g.154367704G>C | CA415248872 | FLNA | c.657C>G (p.Ser219Arg) c.576C>G (p.Ser192Arg) c.615C>G (p.Ser205Arg) | |
X | g.154367704G>T | CA415248873 | FLNA | c.657C>A (p.Ser219Arg) c.576C>A (p.Ser192Arg) c.615C>A (p.Ser205Arg) | |
X | g.154367705del | CA2573159434 | FLNA | c.656del (p.Ser219ThrfsTer23) c.575del (p.Ser192ThrfsTer23) c.614del (p.Ser205ThrfsTer23) | ClinVar dbSNP |
X | g.154367705C>A | CA415248874 | FLNA | c.656G>T (p.Ser219Ile) c.575G>T (p.Ser192Ile) c.614G>T (p.Ser205Ile) | |
X | g.154367705C= | CA2466658981 | FLNA | c.656G= (p.Ser219=) c.575G= (p.Ser192=) c.614G= (p.Ser205=) | |
X | g.154367705C>G | CA415248875 | FLNA | c.656G>C (p.Ser219Thr) c.575G>C (p.Ser192Thr) c.614G>C (p.Ser205Thr) | dbSNP |
X | g.154367705C>T | CA415248876 | FLNA | c.656G>A (p.Ser219Asn) c.575G>A (p.Ser192Asn) c.614G>A (p.Ser205Asn) | gnomAD v4 |
X | g.154367706T>A | CA415248877 | FLNA | c.655A>T (p.Ser219Cys) c.574A>T (p.Ser192Cys) c.613A>T (p.Ser205Cys) | |
X | g.154367706T>C | CA415248878 | FLNA | c.655A>G (p.Ser219Gly) c.574A>G (p.Ser192Gly) c.613A>G (p.Ser205Gly) | |
X | g.154367706T>G | CA415248879 | FLNA | c.655A>C (p.Ser219Arg) c.574A>C (p.Ser192Arg) c.613A>C (p.Ser205Arg) | |
X | g.154367707G>A | CA519709653 | FLNA | c.654C>T (p.Ala218=) c.573C>T (p.Ala191=) c.612C>T (p.Ala204=) | |
X | g.154367707G>C | CA519709654 | FLNA | c.654C>G (p.Ala218=) c.573C>G (p.Ala191=) c.612C>G (p.Ala204=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154367707G= | CA2466658982 | FLNA | c.654C= (p.Ala218=) c.573C= (p.Ala191=) c.612C= (p.Ala204=) | |
X | g.154367707G>T | CA519709655 | FLNA | c.654C>A (p.Ala218=) c.573C>A (p.Ala191=) c.612C>A (p.Ala204=) | |
X | g.154367708G>A | CA415248880 | FLNA | c.653C>T (p.Ala218Val) c.572C>T (p.Ala191Val) c.611C>T (p.Ala204Val) | |
X | g.154367708G>C | CA415248881 | FLNA | c.653C>G (p.Ala218Gly) c.572C>G (p.Ala191Gly) c.611C>G (p.Ala204Gly) | |
X | g.154367708G>T | CA415248882 | FLNA | c.653C>A (p.Ala218Asp) c.572C>A (p.Ala191Asp) c.611C>A (p.Ala204Asp) | |
X | g.154367709C>A | CA415248883 | FLNA | c.652G>T (p.Ala218Ser) c.571G>T (p.Ala191Ser) c.610G>T (p.Ala204Ser) | dbSNP gnomAD v2 |
X | g.154367709C= | CA2466658983 | FLNA | c.652G= (p.Ala218=) c.571G= (p.Ala191=) c.610G= (p.Ala204=) | |
X | g.154367709C>G | CA415248884 | FLNA | c.652G>C (p.Ala218Pro) c.571G>C (p.Ala191Pro) c.610G>C (p.Ala204Pro) | gnomAD v4 |
X | g.154367709C>T | CA10561381 | FLNA | c.652G>A (p.Ala218Thr) c.571G>A (p.Ala191Thr) c.610G>A (p.Ala204Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367710G>A | CA10561382 | FLNA | c.651C>T (p.Asp217=) c.570C>T (p.Asp190=) c.609C>T (p.Asp203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367710G>C | CA415248885 | FLNA | c.651C>G (p.Asp217Glu) c.570C>G (p.Asp190Glu) c.609C>G (p.Asp203Glu) | |
X | g.154367710G= | CA2466658984 | FLNA | c.651C= (p.Asp217=) c.570C= (p.Asp190=) c.609C= (p.Asp203=) | |
X | g.154367710G>T | CA415248886 | FLNA | c.651C>A (p.Asp217Glu) c.570C>A (p.Asp190Glu) c.609C>A (p.Asp203Glu) | |
X | g.154367711T>A | CA415248887 | FLNA | c.650A>T (p.Asp217Val) c.569A>T (p.Asp190Val) c.608A>T (p.Asp203Val) | |
X | g.154367711T>C | CA415248888 | FLNA | c.650A>G (p.Asp217Gly) c.569A>G (p.Asp190Gly) c.608A>G (p.Asp203Gly) | |
X | g.154367711T>G | CA415248889 | FLNA | c.650A>C (p.Asp217Ala) c.569A>C (p.Asp190Ala) c.608A>C (p.Asp203Ala) | |
X | g.154367712C>A | CA415248890 | FLNA | c.649G>T (p.Asp217Tyr) c.568G>T (p.Asp190Tyr) c.607G>T (p.Asp203Tyr) | |
X | g.154367712C= | CA2466658985 | FLNA | c.649G= (p.Asp217=) c.568G= (p.Asp190=) c.607G= (p.Asp203=) | |
X | g.154367712C>G | CA415248891 | FLNA | c.649G>C (p.Asp217His) c.568G>C (p.Asp190His) c.607G>C (p.Asp203His) | |
X | g.154367712C>T | CA415248892 | FLNA | c.649G>A (p.Asp217Asn) c.568G>A (p.Asp190Asn) c.607G>A (p.Asp203Asn) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154367714del | CA2579738362 | FLNA | c.649del (p.Asp217ThrfsTer25) c.568del (p.Asp190ThrfsTer25) c.607del (p.Asp203ThrfsTer25) | |
X | g.154367713C>A | CA415248894 | FLNA | c.648G>T (p.Trp216Cys) c.567G>T (p.Trp189Cys) c.606G>T (p.Trp202Cys) | |
X | g.154367713C>G | CA415248895 | FLNA | c.648G>C (p.Trp216Cys) c.567G>C (p.Trp189Cys) c.606G>C (p.Trp202Cys) | |
X | g.154367713C>T | CA415248893 | FLNA | c.648G>A (p.Trp216Ter) c.567G>A (p.Trp189Ter) c.606G>A (p.Trp202Ter) | |
X | g.154367714C>A | CA415248896 | FLNA | c.647G>T (p.Trp216Leu) c.566G>T (p.Trp189Leu) c.605G>T (p.Trp202Leu) | |
X | g.154367714C>G | CA415248897 | FLNA | c.647G>C (p.Trp216Ser) c.566G>C (p.Trp189Ser) c.605G>C (p.Trp202Ser) | |
X | g.154367714C>T | CA415248898 | FLNA | c.647G>A (p.Trp216Ter) c.566G>A (p.Trp189Ter) c.605G>A (p.Trp202Ter) | |
X | g.154367715A>C | CA415248899 | FLNA | c.646T>G (p.Trp216Gly) c.565T>G (p.Trp189Gly) c.604T>G (p.Trp202Gly) | |
X | g.154367715A>G | CA415248900 | FLNA | c.646T>C (p.Trp216Arg) c.565T>C (p.Trp189Arg) c.604T>C (p.Trp202Arg) | |
X | g.154367715A>T | CA415248901 | FLNA | c.646T>A (p.Trp216Arg) c.565T>A (p.Trp189Arg) c.604T>A (p.Trp202Arg) | |
X | g.154367716A= | CA2466658986 | FLNA | c.645T= (p.Ser215=) c.564T= (p.Ser188=) c.603T= (p.Ser201=) | |
X | g.154367716A>C | CA519709685 | FLNA | c.645T>G (p.Ser215=) c.564T>G (p.Ser188=) c.603T>G (p.Ser201=) | |
X | g.154367716A>G | CA519709686 | FLNA | c.645T>C (p.Ser215=) c.564T>C (p.Ser188=) c.603T>C (p.Ser201=) | dbSNP |
X | g.154367716A>T | CA519709687 | FLNA | c.645T>A (p.Ser215=) c.564T>A (p.Ser188=) c.603T>A (p.Ser201=) | dbSNP |
X | g.154367717G>A | CA415248902 | FLNA | c.644C>T (p.Ser215Phe) c.563C>T (p.Ser188Phe) c.602C>T (p.Ser201Phe) | |
X | g.154367717G>C | CA415248903 | FLNA | c.644C>G (p.Ser215Cys) c.563C>G (p.Ser188Cys) c.602C>G (p.Ser201Cys) | |
X | g.154367717G= | CA2466658987 | FLNA | c.644C= (p.Ser215=) c.563C= (p.Ser188=) c.602C= (p.Ser201=) | |
X | g.154367717G>T | CA415248904 | FLNA | c.644C>A (p.Ser215Tyr) c.563C>A (p.Ser188Tyr) c.602C>A (p.Ser201Tyr) | dbSNP |