Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.128261859C>A | CA446305691 | FBN2 | c.8241G>T (p.Leu2747=) c.8238G>T (p.Leu2746=) c.8088G>T (p.Leu2696=) | gnomAD v4 |
5 | g.128261859C= | CA1581234867 | FBN2 | c.8241G= (p.Leu2747=) c.8238G= (p.Leu2746=) c.8088G= (p.Leu2696=) | |
5 | g.128261859C>G | CA446305692 | FBN2 | c.8241G>C (p.Leu2747=) c.8238G>C (p.Leu2746=) c.8088G>C (p.Leu2696=) | |
5 | g.128261859C>T | CA3393869 | FBN2 | c.8241G>A (p.Leu2747=) c.8238G>A (p.Leu2746=) c.8088G>A (p.Leu2696=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128261860A>C | CA360747886 | FBN2 | c.8240T>G (p.Leu2747Arg) c.8237T>G (p.Leu2746Arg) c.8087T>G (p.Leu2696Arg) | |
5 | g.128261860A>G | CA360747888 | FBN2 | c.8240T>C (p.Leu2747Pro) c.8237T>C (p.Leu2746Pro) c.8087T>C (p.Leu2696Pro) | |
5 | g.128261860A>T | CA360747892 | FBN2 | c.8240T>A (p.Leu2747Gln) c.8237T>A (p.Leu2746Gln) c.8087T>A (p.Leu2696Gln) | |
5 | g.128261861G>A | CA446305693 | FBN2 | c.8239C>T (p.Leu2747=) c.8236C>T (p.Leu2746=) c.8086C>T (p.Leu2696=) | |
5 | g.128261861G>C | CA320216 | FBN2 | c.8239C>G (p.Leu2747Val) c.8236C>G (p.Leu2746Val) c.8086C>G (p.Leu2696Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261861G= | CA1581234868 | FBN2 | c.8239C= (p.Leu2747=) c.8236C= (p.Leu2746=) c.8086C= (p.Leu2696=) | |
5 | g.128261861G>T | CA360747899 | FBN2 | c.8239C>A (p.Leu2747Met) c.8236C>A (p.Leu2746Met) c.8086C>A (p.Leu2696Met) | |
5 | g.128261862T>A | CA446305694 | FBN2 | c.8238A>T (p.Ser2746=) c.8235A>T (p.Ser2745=) c.8085A>T (p.Ser2695=) | |
5 | g.128261862T>C | CA446305695 | FBN2 | c.8238A>G (p.Ser2746=) c.8235A>G (p.Ser2745=) c.8085A>G (p.Ser2695=) | gnomAD v4 |
5 | g.128261862T>G | CA446305696 | FBN2 | c.8238A>C (p.Ser2746=) c.8235A>C (p.Ser2745=) c.8085A>C (p.Ser2695=) | |
5 | g.128261863G>A | CA360747903 | FBN2 | c.8237C>T (p.Ser2746Leu) c.8234C>T (p.Ser2745Leu) c.8084C>T (p.Ser2695Leu) | |
5 | g.128261863G>C | CA360747904 | FBN2 | c.8237C>G (p.Ser2746Ter) c.8234C>G (p.Ser2745Ter) c.8084C>G (p.Ser2695Ter) | |
5 | g.128261863G>T | CA360747905 | FBN2 | c.8237C>A (p.Ser2746Ter) c.8234C>A (p.Ser2745Ter) c.8084C>A (p.Ser2695Ter) | |
5 | g.128261864A>C | CA360747908 | FBN2 | c.8236T>G (p.Ser2746Ala) c.8233T>G (p.Ser2745Ala) c.8083T>G (p.Ser2695Ala) | |
5 | g.128261864A>G | CA360747912 | FBN2 | c.8236T>C (p.Ser2746Pro) c.8233T>C (p.Ser2745Pro) c.8083T>C (p.Ser2695Pro) | |
5 | g.128261864A>T | CA360747914 | FBN2 | c.8236T>A (p.Ser2746Thr) c.8233T>A (p.Ser2745Thr) c.8083T>A (p.Ser2695Thr) | |
5 | g.128261865C>A | CA446305697 | FBN2 | c.8235G>T (p.Leu2745=) c.8232G>T (p.Leu2744=) c.8082G>T (p.Leu2694=) | |
5 | g.128261865C= | CA1581234869 | FBN2 | c.8235G= (p.Leu2745=) c.8232G= (p.Leu2744=) c.8082G= (p.Leu2694=) | |
5 | g.128261865C>G | CA3393870 | FBN2 | c.8235G>C (p.Leu2745=) c.8232G>C (p.Leu2744=) c.8082G>C (p.Leu2694=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128261865C>T | CA446305698 | FBN2 | c.8235G>A (p.Leu2745=) c.8232G>A (p.Leu2744=) c.8082G>A (p.Leu2694=) | |
5 | g.128261866A>C | CA360747920 | FBN2 | c.8234T>G (p.Leu2745Arg) c.8231T>G (p.Leu2744Arg) c.8081T>G (p.Leu2694Arg) | |
5 | g.128261866A>G | CA360747923 | FBN2 | c.8234T>C (p.Leu2745Pro) c.8231T>C (p.Leu2744Pro) c.8081T>C (p.Leu2694Pro) | |
5 | g.128261866A>T | CA360747927 | FBN2 | c.8234T>A (p.Leu2745Gln) c.8231T>A (p.Leu2744Gln) c.8081T>A (p.Leu2694Gln) | |
5 | g.128261867G>A | CA446305699 | FBN2 | c.8233C>T (p.Leu2745=) c.8230C>T (p.Leu2744=) c.8080C>T (p.Leu2694=) | |
5 | g.128261867G>C | CA360747930 | FBN2 | c.8233C>G (p.Leu2745Val) c.8230C>G (p.Leu2744Val) c.8080C>G (p.Leu2694Val) | |
5 | g.128261867G>T | CA360747933 | FBN2 | c.8233C>A (p.Leu2745Met) c.8230C>A (p.Leu2744Met) c.8080C>A (p.Leu2694Met) | |
5 | g.128261868G>A | CA446305700 | FBN2 | c.8232C>T (p.Tyr2744=) c.8229C>T (p.Tyr2743=) c.8079C>T (p.Tyr2693=) | |
5 | g.128261868G>C | CA360747952 | FBN2 | c.8232C>G (p.Tyr2744Ter) c.8229C>G (p.Tyr2743Ter) c.8079C>G (p.Tyr2693Ter) | COSMIC COSMIC |
5 | g.128261868G>T | CA360747950 | FBN2 | c.8232C>A (p.Tyr2744Ter) c.8229C>A (p.Tyr2743Ter) c.8079C>A (p.Tyr2693Ter) | |
5 | g.128261869T>A | CA360747955 | FBN2 | c.8231A>T (p.Tyr2744Phe) c.8228A>T (p.Tyr2743Phe) c.8078A>T (p.Tyr2693Phe) | |
5 | g.128261869T>C | CA360747961 | FBN2 | c.8231A>G (p.Tyr2744Cys) c.8228A>G (p.Tyr2743Cys) c.8078A>G (p.Tyr2693Cys) | |
5 | g.128261869T>G | CA360747959 | FBN2 | c.8231A>C (p.Tyr2744Ser) c.8228A>C (p.Tyr2743Ser) c.8078A>C (p.Tyr2693Ser) | |
5 | g.128261870A= | CA1581234870 | FBN2 | c.8230T= (p.Tyr2744=) c.8227T= (p.Tyr2743=) c.8077T= (p.Tyr2693=) | |
5 | g.128261870A>C | CA3393871 | FBN2 | c.8230T>G (p.Tyr2744Asp) c.8227T>G (p.Tyr2743Asp) c.8077T>G (p.Tyr2693Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261870A>G | CA360747967 | FBN2 | c.8230T>C (p.Tyr2744His) c.8227T>C (p.Tyr2743His) c.8077T>C (p.Tyr2693His) | |
5 | g.128261870A>T | CA360747970 | FBN2 | c.8230T>A (p.Tyr2744Asn) c.8227T>A (p.Tyr2743Asn) c.8077T>A (p.Tyr2693Asn) | |
5 | g.128261871C>A | CA360747976 | FBN2 | c.8229G>T (p.Gln2743His) c.8226G>T (p.Gln2742His) c.8076G>T (p.Gln2692His) | |
5 | g.128261871C= | CA1581234871 | FBN2 | c.8229G= (p.Gln2743=) c.8226G= (p.Gln2742=) c.8076G= (p.Gln2692=) | |
5 | g.128261871C>G | CA360747979 | FBN2 | c.8229G>C (p.Gln2743His) c.8226G>C (p.Gln2742His) c.8076G>C (p.Gln2692His) | |
5 | g.128261871C>T | CA3393872 | FBN2 | c.8229G>A (p.Gln2743=) c.8226G>A (p.Gln2742=) c.8076G>A (p.Gln2692=) | dbSNP ExAC |
5 | g.128261872T>A | CA360747984 | FBN2 | c.8228A>T (p.Gln2743Leu) c.8225A>T (p.Gln2742Leu) c.8075A>T (p.Gln2692Leu) | |
5 | g.128261872T>C | CA360747986 | FBN2 | c.8228A>G (p.Gln2743Arg) c.8225A>G (p.Gln2742Arg) c.8075A>G (p.Gln2692Arg) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128261872T>G | CA360747991 | FBN2 | c.8228A>C (p.Gln2743Pro) c.8225A>C (p.Gln2742Pro) c.8075A>C (p.Gln2692Pro) | |
5 | g.128261872T= | CA1581234872 | FBN2 | c.8228A= (p.Gln2743=) c.8225A= (p.Gln2742=) c.8075A= (p.Gln2692=) | |
5 | g.128261873del | CA2675111527 | FBN2 | c.8227del (p.Gln2743SerfsTer?) c.8224del (p.Gln2742SerfsTer?) c.8074del (p.Gln2692SerfsTer?) | gnomAD v4 |
5 | g.128261873G>A | CA360747995 | FBN2 | c.8227C>T (p.Gln2743Ter) c.8224C>T (p.Gln2742Ter) c.8074C>T (p.Gln2692Ter) | |
5 | g.128261873G>C | CA360747996 | FBN2 | c.8227C>G (p.Gln2743Glu) c.8224C>G (p.Gln2742Glu) c.8074C>G (p.Gln2692Glu) | |
5 | g.128261873G= | CA1581234873 | FBN2 | c.8227C= (p.Gln2743=) c.8224C= (p.Gln2742=) c.8074C= (p.Gln2692=) | |
5 | g.128261873G>T | CA360748000 | FBN2 | c.8227C>A (p.Gln2743Lys) c.8224C>A (p.Gln2742Lys) c.8074C>A (p.Gln2692Lys) | dbSNP gnomAD v4 |
5 | g.128261874C>A | CA446305701 | FBN2 | c.8226G>T (p.Gly2742=) c.8223G>T (p.Gly2741=) c.8073G>T (p.Gly2691=) | |
5 | g.128261874C= | CA1581234874 | FBN2 | c.8226G= (p.Gly2742=) c.8223G= (p.Gly2741=) c.8073G= (p.Gly2691=) | |
5 | g.128261874C>G | CA446305702 | FBN2 | c.8226G>C (p.Gly2742=) c.8223G>C (p.Gly2741=) c.8073G>C (p.Gly2691=) | |
5 | g.128261874C>T | CA3393873 | FBN2 | c.8226G>A (p.Gly2742=) c.8223G>A (p.Gly2741=) c.8073G>A (p.Gly2691=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128261877_128261889del | CA2675111528 | FBN2 | c.8214_8226del (p.Phe2739SerfsTer?) c.8211_8223del (p.Phe2738SerfsTer?) c.8061_8073del (p.Phe2688SerfsTer?) | gnomAD v4 |
5 | g.128261875C>A | CA360748019 | FBN2 | c.8225G>T (p.Gly2742Val) c.8222G>T (p.Gly2741Val) c.8072G>T (p.Gly2691Val) | |
5 | g.128261875C>G | CA360748023 | FBN2 | c.8225G>C (p.Gly2742Ala) c.8222G>C (p.Gly2741Ala) c.8072G>C (p.Gly2691Ala) | COSMIC COSMIC |
5 | g.128261875C>T | CA360748026 | FBN2 | c.8225G>A (p.Gly2742Glu) c.8222G>A (p.Gly2741Glu) c.8072G>A (p.Gly2691Glu) | |
5 | g.128261876C>A | CA360748029 | FBN2 | c.8224G>T (p.Gly2742Trp) c.8221G>T (p.Gly2741Trp) c.8071G>T (p.Gly2691Trp) | |
5 | g.128261876C= | CA1581234875 | FBN2 | c.8224G= (p.Gly2742=) c.8221G= (p.Gly2741=) c.8071G= (p.Gly2691=) | |
5 | g.128261876C>G | CA360748033 | FBN2 | c.8224G>C (p.Gly2742Arg) c.8221G>C (p.Gly2741Arg) c.8071G>C (p.Gly2691Arg) | |
5 | g.128261876C>T | CA360748036 | FBN2 | c.8224G>A (p.Gly2742Arg) c.8221G>A (p.Gly2741Arg) c.8071G>A (p.Gly2691Arg) | dbSNP COSMIC COSMIC |
5 | g.128261877C>A | CA360748038 | FBN2 | c.8223G>T (p.Lys2741Asn) c.8220G>T (p.Lys2740Asn) c.8070G>T (p.Lys2690Asn) | |
5 | g.128261877C>G | CA360748045 | FBN2 | c.8223G>C (p.Lys2741Asn) c.8220G>C (p.Lys2740Asn) c.8070G>C (p.Lys2690Asn) | |
5 | g.128261877C>T | CA446305703 | FBN2 | c.8223G>A (p.Lys2741=) c.8220G>A (p.Lys2740=) c.8070G>A (p.Lys2690=) | |
5 | g.128261878T>A | CA360748050 | FBN2 | c.8222A>T (p.Lys2741Met) c.8219A>T (p.Lys2740Met) c.8069A>T (p.Lys2690Met) | |
5 | g.128261878T>C | CA360748053 | FBN2 | c.8222A>G (p.Lys2741Arg) c.8219A>G (p.Lys2740Arg) c.8069A>G (p.Lys2690Arg) | |
5 | g.128261878T>G | CA360748056 | FBN2 | c.8222A>C (p.Lys2741Thr) c.8219A>C (p.Lys2740Thr) c.8069A>C (p.Lys2690Thr) | |
5 | g.128261879T>A | CA360748063 | FBN2 | c.8221A>T (p.Lys2741Ter) c.8218A>T (p.Lys2740Ter) c.8068A>T (p.Lys2690Ter) | |
5 | g.128261879T>C | CA360748066 | FBN2 | c.8221A>G (p.Lys2741Glu) c.8218A>G (p.Lys2740Glu) c.8068A>G (p.Lys2690Glu) | |
5 | g.128261879T>G | CA360748069 | FBN2 | c.8221A>C (p.Lys2741Gln) c.8218A>C (p.Lys2740Gln) c.8068A>C (p.Lys2690Gln) | |
5 | g.128261880G>A | CA446305704 | FBN2 | c.8220C>T (p.Asn2740=) c.8217C>T (p.Asn2739=) c.8067C>T (p.Asn2689=) | |
5 | g.128261880G>C | CA360748073 | FBN2 | c.8220C>G (p.Asn2740Lys) c.8217C>G (p.Asn2739Lys) c.8067C>G (p.Asn2689Lys) | |
5 | g.128261880G>T | CA360748076 | FBN2 | c.8220C>A (p.Asn2740Lys) c.8217C>A (p.Asn2739Lys) c.8067C>A (p.Asn2689Lys) | gnomAD v4 |
5 | g.128261881T>A | CA360748078 | FBN2 | c.8219A>T (p.Asn2740Ile) c.8216A>T (p.Asn2739Ile) c.8066A>T (p.Asn2689Ile) | |
5 | g.128261881T>C | CA360748084 | FBN2 | c.8219A>G (p.Asn2740Ser) c.8216A>G (p.Asn2739Ser) c.8066A>G (p.Asn2689Ser) | |
5 | g.128261881T>G | CA360748082 | FBN2 | c.8219A>C (p.Asn2740Thr) c.8216A>C (p.Asn2739Thr) c.8066A>C (p.Asn2689Thr) | |
5 | g.128261882T>A | CA360748086 | FBN2 | c.8218A>T (p.Asn2740Tyr) c.8215A>T (p.Asn2739Tyr) c.8065A>T (p.Asn2689Tyr) | |
5 | g.128261882T>C | CA360748091 | FBN2 | c.8218A>G (p.Asn2740Asp) c.8215A>G (p.Asn2739Asp) c.8065A>G (p.Asn2689Asp) | |
5 | g.128261882T>G | CA360748089 | FBN2 | c.8218A>C (p.Asn2740His) c.8215A>C (p.Asn2739His) c.8065A>C (p.Asn2689His) | gnomAD v4 |
5 | g.128261883A>C | CA360748094 | FBN2 | c.8217T>G (p.Phe2739Leu) c.8214T>G (p.Phe2738Leu) c.8064T>G (p.Phe2688Leu) | |
5 | g.128261883A>G | CA446305705 | FBN2 | c.8217T>C (p.Phe2739=) c.8214T>C (p.Phe2738=) c.8064T>C (p.Phe2688=) | |
5 | g.128261883A>T | CA360748095 | FBN2 | c.8217T>A (p.Phe2739Leu) c.8214T>A (p.Phe2738Leu) c.8064T>A (p.Phe2688Leu) | |
5 | g.128261884A>C | CA360748096 | FBN2 | c.8216T>G (p.Phe2739Cys) c.8213T>G (p.Phe2738Cys) c.8063T>G (p.Phe2688Cys) | COSMIC COSMIC |
5 | g.128261884A>G | CA360748097 | FBN2 | c.8216T>C (p.Phe2739Ser) c.8213T>C (p.Phe2738Ser) c.8063T>C (p.Phe2688Ser) | |
5 | g.128261884A>T | CA360748100 | FBN2 | c.8216T>A (p.Phe2739Tyr) c.8213T>A (p.Phe2738Tyr) c.8063T>A (p.Phe2688Tyr) | |
5 | g.128261885A= | CA1581234876 | FBN2 | c.8215T= (p.Phe2739=) c.8212T= (p.Phe2738=) c.8062T= (p.Phe2688=) | |
5 | g.128261885A>C | CA360748112 | FBN2 | c.8215T>G (p.Phe2739Val) c.8212T>G (p.Phe2738Val) c.8062T>G (p.Phe2688Val) | |
5 | g.128261885A>G | CA360748115 | FBN2 | c.8215T>C (p.Phe2739Leu) c.8212T>C (p.Phe2738Leu) c.8062T>C (p.Phe2688Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261885A>T | CA360748118 | FBN2 | c.8215T>A (p.Phe2739Ile) c.8212T>A (p.Phe2738Ile) c.8062T>A (p.Phe2688Ile) | |
5 | g.128261886T>A | CA446305706 | FBN2 | c.8214A>T (p.Gly2738=) c.8211A>T (p.Gly2737=) c.8061A>T (p.Gly2687=) | gnomAD v4 |
5 | g.128261886T>C | CA446305707 | FBN2 | c.8214A>G (p.Gly2738=) c.8211A>G (p.Gly2737=) c.8061A>G (p.Gly2687=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128261886T>G | CA446305708 | FBN2 | c.8214A>C (p.Gly2738=) c.8211A>C (p.Gly2737=) c.8061A>C (p.Gly2687=) | |
5 | g.128261886T= | CA1581234877 | FBN2 | c.8214A= (p.Gly2738=) c.8211A= (p.Gly2737=) c.8061A= (p.Gly2687=) | |
5 | g.128261887C>A | CA360748121 | FBN2 | c.8213G>T (p.Gly2738Val) c.8210G>T (p.Gly2737Val) c.8060G>T (p.Gly2687Val) | |
5 | g.128261887C>G | CA360748124 | FBN2 | c.8213G>C (p.Gly2738Ala) c.8210G>C (p.Gly2737Ala) c.8060G>C (p.Gly2687Ala) | |
5 | g.128261887C>T | CA360748127 | FBN2 | c.8213G>A (p.Gly2738Glu) c.8210G>A (p.Gly2737Glu) c.8060G>A (p.Gly2687Glu) | |
5 | g.128261888C>A | CA360748138 | FBN2 | c.8212G>T (p.Gly2738Ter) c.8209G>T (p.Gly2737Ter) c.8059G>T (p.Gly2687Ter) | |
5 | g.128261888C= | CA1581234878 | FBN2 | c.8212G= (p.Gly2738=) c.8209G= (p.Gly2737=) c.8059G= (p.Gly2687=) | |
5 | g.128261888C>G | CA360748134 | FBN2 | c.8212G>C (p.Gly2738Arg) c.8209G>C (p.Gly2737Arg) c.8059G>C (p.Gly2687Arg) | |
5 | g.128261888C>T | CA360748131 | FBN2 | c.8212G>A (p.Gly2738Arg) c.8209G>A (p.Gly2737Arg) c.8059G>A (p.Gly2687Arg) | ClinVar dbSNP |
5 | g.128261889C>A | CA360748143 | FBN2 | c.8211G>T (p.Met2737Ile) c.8208G>T (p.Met2736Ile) c.8058G>T (p.Met2686Ile) | |
5 | g.128261889C>G | CA360748144 | FBN2 | c.8211G>C (p.Met2737Ile) c.8208G>C (p.Met2736Ile) c.8058G>C (p.Met2686Ile) | |
5 | g.128261889C>T | CA360748148 | FBN2 | c.8211G>A (p.Met2737Ile) c.8208G>A (p.Met2736Ile) c.8058G>A (p.Met2686Ile) | gnomAD v4 |
5 | g.128261890A>C | CA360748152 | FBN2 | c.8210T>G (p.Met2737Arg) c.8207T>G (p.Met2736Arg) c.8057T>G (p.Met2686Arg) | |
5 | g.128261890A>G | CA360748155 | FBN2 | c.8210T>C (p.Met2737Thr) c.8207T>C (p.Met2736Thr) c.8057T>C (p.Met2686Thr) | gnomAD v4 |
5 | g.128261890A>T | CA360748159 | FBN2 | c.8210T>A (p.Met2737Lys) c.8207T>A (p.Met2736Lys) c.8057T>A (p.Met2686Lys) | |
5 | g.128261891T>A | CA360748162 | FBN2 | c.8209A>T (p.Met2737Leu) c.8206A>T (p.Met2736Leu) c.8056A>T (p.Met2686Leu) | |
5 | g.128261891T>C | CA360748165 | FBN2 | c.8209A>G (p.Met2737Val) c.8206A>G (p.Met2736Val) c.8056A>G (p.Met2686Val) | |
5 | g.128261891T>G | CA360748167 | FBN2 | c.8209A>C (p.Met2737Leu) c.8206A>C (p.Met2736Leu) c.8056A>C (p.Met2686Leu) | |
5 | g.128261892T>A | CA446305709 | FBN2 | c.8208A>T (p.Gly2736=) c.8205A>T (p.Gly2735=) c.8055A>T (p.Gly2685=) | |
5 | g.128261892T>C | CA446305710 | FBN2 | c.8208A>G (p.Gly2736=) c.8205A>G (p.Gly2735=) c.8055A>G (p.Gly2685=) | |
5 | g.128261892T>G | CA446305711 | FBN2 | c.8208A>C (p.Gly2736=) c.8205A>C (p.Gly2735=) c.8055A>C (p.Gly2685=) | gnomAD v4 |
5 | g.128261893C>A | CA360748171 | FBN2 | c.8207G>T (p.Gly2736Val) c.8204G>T (p.Gly2735Val) c.8054G>T (p.Gly2685Val) | |
5 | g.128261893C= | CA1581234879 | FBN2 | c.8207G= (p.Gly2736=) c.8204G= (p.Gly2735=) c.8054G= (p.Gly2685=) | |
5 | g.128261893C>G | CA360748173 | FBN2 | c.8207G>C (p.Gly2736Ala) c.8204G>C (p.Gly2735Ala) c.8054G>C (p.Gly2685Ala) | |
5 | g.128261893C>T | CA321883 | FBN2 | c.8207G>A (p.Gly2736Glu) c.8204G>A (p.Gly2735Glu) c.8054G>A (p.Gly2685Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261894C>A | CA360748181 | FBN2 | c.8206G>T (p.Gly2736Ter) c.8203G>T (p.Gly2735Ter) c.8053G>T (p.Gly2685Ter) | |
5 | g.128261894C= | CA1581234880 | FBN2 | c.8206G= (p.Gly2736=) c.8203G= (p.Gly2735=) c.8053G= (p.Gly2685=) | |
5 | g.128261894C>G | CA360748178 | FBN2 | c.8206G>C (p.Gly2736Arg) c.8203G>C (p.Gly2735Arg) c.8053G>C (p.Gly2685Arg) | |
5 | g.128261894C>T | CA3393874 | FBN2 | c.8206G>A (p.Gly2736Arg) c.8203G>A (p.Gly2735Arg) c.8053G>A (p.Gly2685Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128261895T>A | CA446305712 | FBN2 | c.8205A>T (p.Ser2735=) c.8202A>T (p.Ser2734=) c.8052A>T (p.Ser2684=) | |
5 | g.128261895T>C | CA446305713 | FBN2 | c.8205A>G (p.Ser2735=) c.8202A>G (p.Ser2734=) c.8052A>G (p.Ser2684=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128261895T>G | CA446305714 | FBN2 | c.8205A>C (p.Ser2735=) c.8202A>C (p.Ser2734=) c.8052A>C (p.Ser2684=) | |
5 | g.128261895T= | CA1581234881 | FBN2 | c.8205A= (p.Ser2735=) c.8202A= (p.Ser2734=) c.8052A= (p.Ser2684=) | |
5 | g.128261896G>A | CA360748189 | FBN2 | c.8204C>T (p.Ser2735Leu) c.8201C>T (p.Ser2734Leu) c.8051C>T (p.Ser2684Leu) | |
5 | g.128261896G>C | CA360748182 | FBN2 | c.8204C>G (p.Ser2735Ter) c.8201C>G (p.Ser2734Ter) c.8051C>G (p.Ser2684Ter) | |
5 | g.128261896G>T | CA360748186 | FBN2 | c.8204C>A (p.Ser2735Ter) c.8201C>A (p.Ser2734Ter) c.8051C>A (p.Ser2684Ter) | |
5 | g.128261897A>C | CA360748194 | FBN2 | c.8203T>G (p.Ser2735Ala) c.8200T>G (p.Ser2734Ala) c.8050T>G (p.Ser2684Ala) | gnomAD v4 |
5 | g.128261897A>G | CA360748196 | FBN2 | c.8203T>C (p.Ser2735Pro) c.8200T>C (p.Ser2734Pro) c.8050T>C (p.Ser2684Pro) | |
5 | g.128261897A>T | CA360748199 | FBN2 | c.8203T>A (p.Ser2735Thr) c.8200T>A (p.Ser2734Thr) c.8050T>A (p.Ser2684Thr) | |
5 | g.128261898G>A | CA446305715 | FBN2 | c.8202C>T (p.Val2734=) c.8199C>T (p.Val2733=) c.8049C>T (p.Val2683=) | |
5 | g.128261898G>C | CA446305716 | FBN2 | c.8202C>G (p.Val2734=) c.8199C>G (p.Val2733=) c.8049C>G (p.Val2683=) | dbSNP |
5 | g.128261898G= | CA1581234882 | FBN2 | c.8202C= (p.Val2734=) c.8199C= (p.Val2733=) c.8049C= (p.Val2683=) | |
5 | g.128261898G>T | CA446305717 | FBN2 | c.8202C>A (p.Val2734=) c.8199C>A (p.Val2733=) c.8049C>A (p.Val2683=) | |
5 | g.128261899A= | CA1581234883 | FBN2 | c.8201T= (p.Val2734=) c.8198T= (p.Val2733=) c.8048T= (p.Val2683=) | |
5 | g.128261899A>C | CA360748203 | FBN2 | c.8201T>G (p.Val2734Gly) c.8198T>G (p.Val2733Gly) c.8048T>G (p.Val2683Gly) | |
5 | g.128261899A>G | CA360748211 | FBN2 | c.8201T>C (p.Val2734Ala) c.8198T>C (p.Val2733Ala) c.8048T>C (p.Val2683Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128261899A>T | CA360748214 | FBN2 | c.8201T>A (p.Val2734Asp) c.8198T>A (p.Val2733Asp) c.8048T>A (p.Val2683Asp) | |
5 | g.128261900C>A | CA360748219 | FBN2 | c.8200G>T (p.Val2734Phe) c.8197G>T (p.Val2733Phe) c.8047G>T (p.Val2683Phe) | |
5 | g.128261900C>G | CA360748220 | FBN2 | c.8200G>C (p.Val2734Leu) c.8197G>C (p.Val2733Leu) c.8047G>C (p.Val2683Leu) | |
5 | g.128261900C>T | CA360748222 | FBN2 | c.8200G>A (p.Val2734Ile) c.8197G>A (p.Val2733Ile) c.8047G>A (p.Val2683Ile) | gnomAD v4 |
5 | g.128261901A>C | CA360748225 | FBN2 | c.8199T>G (p.Cys2733Trp) c.8196T>G (p.Cys2732Trp) c.8046T>G (p.Cys2682Trp) | |
5 | g.128261901A>G | CA446305718 | FBN2 | c.8199T>C (p.Cys2733=) c.8196T>C (p.Cys2732=) c.8046T>C (p.Cys2682=) | |
5 | g.128261901A>T | CA360748228 | FBN2 | c.8199T>A (p.Cys2733Ter) c.8196T>A (p.Cys2732Ter) c.8046T>A (p.Cys2682Ter) | |
5 | g.128261902C>A | CA360748238 | FBN2 | c.8198G>T (p.Cys2733Phe) c.8195G>T (p.Cys2732Phe) c.8045G>T (p.Cys2682Phe) | |
5 | g.128261902C>G | CA360748231 | FBN2 | c.8198G>C (p.Cys2733Ser) c.8195G>C (p.Cys2732Ser) c.8045G>C (p.Cys2682Ser) | |
5 | g.128261902C>T | CA360748234 | FBN2 | c.8198G>A (p.Cys2733Tyr) c.8195G>A (p.Cys2732Tyr) c.8045G>A (p.Cys2682Tyr) | |
5 | g.128261903A>C | CA360748241 | FBN2 | c.8197T>G (p.Cys2733Gly) c.8194T>G (p.Cys2732Gly) c.8044T>G (p.Cys2682Gly) | |
5 | g.128261903A>G | CA360748243 | FBN2 | c.8197T>C (p.Cys2733Arg) c.8194T>C (p.Cys2732Arg) c.8044T>C (p.Cys2682Arg) | |
5 | g.128261903A>T | CA360748246 | FBN2 | c.8197T>A (p.Cys2733Ser) c.8194T>A (p.Cys2732Ser) c.8044T>A (p.Cys2682Ser) | |
5 | g.128261904G>A | CA3393875 | FBN2 | c.8196C>T (p.His2732=) c.8193C>T (p.His2731=) c.8043C>T (p.His2681=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261904G>C | CA360748251 | FBN2 | c.8196C>G (p.His2732Gln) c.8193C>G (p.His2731Gln) c.8043C>G (p.His2681Gln) | |
5 | g.128261904G= | CA1581234884 | FBN2 | c.8196C= (p.His2732=) c.8193C= (p.His2731=) c.8043C= (p.His2681=) | |
5 | g.128261904G>T | CA360748254 | FBN2 | c.8196C>A (p.His2732Gln) c.8193C>A (p.His2731Gln) c.8043C>A (p.His2681Gln) | |
5 | g.128261905T>A | CA360748258 | FBN2 | c.8195A>T (p.His2732Leu) c.8192A>T (p.His2731Leu) c.8042A>T (p.His2681Leu) | |
5 | g.128261905T>C | CA360748261 | FBN2 | c.8195A>G (p.His2732Arg) c.8192A>G (p.His2731Arg) c.8042A>G (p.His2681Arg) | gnomAD v4 |
5 | g.128261905T>G | CA360748263 | FBN2 | c.8195A>C (p.His2732Pro) c.8192A>C (p.His2731Pro) c.8042A>C (p.His2681Pro) | |
5 | g.128261906G>A | CA360748267 | FBN2 | c.8194C>T (p.His2732Tyr) c.8191C>T (p.His2731Tyr) c.8041C>T (p.His2681Tyr) | |
5 | g.128261906G>C | CA360748269 | FBN2 | c.8194C>G (p.His2732Asp) c.8191C>G (p.His2731Asp) c.8041C>G (p.His2681Asp) | |
5 | g.128261906G>T | CA360748271 | FBN2 | c.8194C>A (p.His2732Asn) c.8191C>A (p.His2731Asn) c.8041C>A (p.His2681Asn) | |
5 | g.128261907G>A | CA446305721 | FBN2 | c.8193C>T (p.Gly2731=) c.8190C>T (p.Gly2730=) c.8040C>T (p.Gly2680=) | ClinVar gnomAD v4 |
5 | g.128261907G>C | CA446305720 | FBN2 | c.8193C>G (p.Gly2731=) c.8190C>G (p.Gly2730=) c.8040C>G (p.Gly2680=) | |
5 | g.128261907G>T | CA446305719 | FBN2 | c.8193C>A (p.Gly2731=) c.8190C>A (p.Gly2730=) c.8040C>A (p.Gly2680=) | |
5 | g.128261908C>A | CA360748278 | FBN2 | c.8193-1G>T (n.8193-1G>T) c.8190-1G>T (n.8190-1G>T) c.8040-1G>T (n.8040-1G>T) | |
5 | g.128261908C>G | CA360748280 | FBN2 | c.8193-1G>C (n.8193-1G>C) c.8190-1G>C (n.8190-1G>C) c.8040-1G>C (n.8040-1G>C) | |
5 | g.128261908C>T | CA360748275 | FBN2 | c.8193-1G>A (n.8193-1G>A) c.8190-1G>A (n.8190-1G>A) c.8040-1G>A (n.8040-1G>A) | |
5 | g.128261909T>A | CA360748284 | FBN2 | c.8193-2A>T (n.8193-2A>T) c.8190-2A>T (n.8190-2A>T) c.8040-2A>T (n.8040-2A>T) | |
5 | g.128261909T>C | CA360748294 | FBN2 | c.8193-2A>G (n.8193-2A>G) c.8190-2A>G (n.8190-2A>G) c.8040-2A>G (n.8040-2A>G) | gnomAD v4 |
5 | g.128261909T>G | CA360748291 | FBN2 | c.8193-2A>C (n.8193-2A>C) c.8190-2A>C (n.8190-2A>C) c.8040-2A>C (n.8040-2A>C) | |
5 | g.128261910A= | CA1581234885 | FBN2 | c.8193-3T= (n.8193-3T=) c.8190-3T= (n.8190-3T=) c.8040-3T= (n.8040-3T=) | |
5 | g.128261910A>G | CA563056283 | FBN2 | c.8193-3T>C (n.8193-3T>C) c.8190-3T>C (n.8190-3T>C) c.8040-3T>C (n.8040-3T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261911T>A | CA2578395596 | FBN2 | c.8193-4A>T (n.8193-4A>T) c.8190-4A>T (n.8190-4A>T) c.8040-4A>T (n.8040-4A>T) | gnomAD v4 |
5 | g.128261911T>C | CA10587594 | FBN2 | c.8193-4A>G (n.8193-4A>G) c.8190-4A>G (n.8190-4A>G) c.8040-4A>G (n.8040-4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128261911T= | CA1581234886 | FBN2 | c.8193-4A= (n.8193-4A=) c.8190-4A= (n.8190-4A=) c.8040-4A= (n.8040-4A=) | |
5 | g.128261913T>C | CA3393876 | FBN2 | c.8193-6A>G (n.8193-6A>G) c.8190-6A>G (n.8190-6A>G) c.8040-6A>G (n.8040-6A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261913T= | CA1581234887 | FBN2 | c.8193-6A= (n.8193-6A=) c.8190-6A= (n.8190-6A=) c.8040-6A= (n.8040-6A=) | |
5 | g.128261914G>C | CA325257 | FBN2 | c.8193-7C>G (n.8193-7C>G) c.8190-7C>G (n.8190-7C>G) c.8040-7C>G (n.8040-7C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261914G= | CA1581234888 | FBN2 | c.8193-7C= (n.8193-7C=) c.8190-7C= (n.8190-7C=) c.8040-7C= (n.8040-7C=) | |
5 | g.128261916A= | CA1581234889 | FBN2 | c.8193-9T= (n.8193-9T=) c.8190-9T= (n.8190-9T=) c.8040-9T= (n.8040-9T=) | |
5 | g.128261916A>C | CA3393877 | FBN2 | c.8193-9T>G (n.8193-9T>G) c.8190-9T>G (n.8190-9T>G) c.8040-9T>G (n.8040-9T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128261916A>G | CA2675111529 | FBN2 | c.8193-9T>C (n.8193-9T>C) c.8190-9T>C (n.8190-9T>C) c.8040-9T>C (n.8040-9T>C) | gnomAD v4 |
5 | g.128261919A>G | CA2675111530 | FBN2 | c.8193-12T>C (n.8193-12T>C) c.8190-12T>C (n.8190-12T>C) c.8040-12T>C (n.8040-12T>C) | gnomAD v4 |
5 | g.128261920A= | CA1581234890 | FBN2 | c.8193-13T= (n.8193-13T=) c.8190-13T= (n.8190-13T=) c.8040-13T= (n.8040-13T=) | |
5 | g.128261920A>G | CA3393878 | FBN2 | c.8193-13T>C (n.8193-13T>C) c.8190-13T>C (n.8190-13T>C) c.8040-13T>C (n.8040-13T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261921G>A | CA563056284 | FBN2 | c.8193-14C>T (n.8193-14C>T) c.8190-14C>T (n.8190-14C>T) c.8040-14C>T (n.8040-14C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261921G= | CA1581234891 | FBN2 | c.8193-14C= (n.8193-14C=) c.8190-14C= (n.8190-14C=) c.8040-14C= (n.8040-14C=) | |
5 | g.128261922C>A | CA2709806827 | FBN2 | c.8193-15G>T (n.8193-15G>T) c.8190-15G>T (n.8190-15G>T) c.8040-15G>T (n.8040-15G>T) | dbSNP |
5 | g.128261922C= | CA1581234893 | FBN2 | c.8193-15G= (n.8193-15G=) c.8190-15G= (n.8190-15G=) c.8040-15G= (n.8040-15G=) | |
5 | g.128261922C>T | CA1581234892 | FBN2 | c.8193-15G>A (n.8193-15G>A) c.8190-15G>A (n.8190-15G>A) c.8040-15G>A (n.8040-15G>A) | dbSNP |
5 | g.128261923A>G | CA2675111531 | FBN2 | c.8193-16T>C (n.8193-16T>C) c.8190-16T>C (n.8190-16T>C) c.8040-16T>C (n.8040-16T>C) | gnomAD v4 |
5 | g.128261925A= | CA1581234894 | FBN2 | c.8193-18T= (n.8193-18T=) c.8190-18T= (n.8190-18T=) c.8040-18T= (n.8040-18T=) | |
5 | g.128261925A>T | CA16605238 | FBN2 | c.8193-18T>A (n.8193-18T>A) c.8190-18T>A (n.8190-18T>A) c.8040-18T>A (n.8040-18T>A) | ClinVar dbSNP |
5 | g.128261926G>A | CA127003866 | FBN2 | c.8193-19C>T (n.8193-19C>T) c.8190-19C>T (n.8190-19C>T) c.8040-19C>T (n.8040-19C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261926G>C | CA3393879 | FBN2 | c.8193-19C>G (n.8193-19C>G) c.8190-19C>G (n.8190-19C>G) c.8040-19C>G (n.8040-19C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128261926G= | CA1581234895 | FBN2 | c.8193-19C= (n.8193-19C=) c.8190-19C= (n.8190-19C=) c.8040-19C= (n.8040-19C=) | |
5 | g.128261926G>T | CA563056285 | FBN2 | c.8193-19C>A (n.8193-19C>A) c.8190-19C>A (n.8190-19C>A) c.8040-19C>A (n.8040-19C>A) | dbSNP gnomAD v2 |
5 | g.128261927_128261928insCT | CA2675111532 | FBN2 | c.8193-20_8193-19insGA (n.8193-20_8193-19insGA) c.8190-20_8190-19insGA (n.8190-20_8190-19insGA) c.8040-20_8040-19insGA (n.8040-20_8040-19insGA) | gnomAD v4 |
5 | g.128261928A= | CA1581234896 | FBN2 | c.8193-21T= (n.8193-21T=) c.8190-21T= (n.8190-21T=) c.8040-21T= (n.8040-21T=) | |
5 | g.128261928A>G | CA1581234897 | FBN2 | c.8193-21T>C (n.8193-21T>C) c.8190-21T>C (n.8190-21T>C) c.8040-21T>C (n.8040-21T>C) | dbSNP |
5 | g.128261928_128261931delinsATTG | CA1581234898 | FBN2 | c.8193-24_8193-21delinsCAAT (n.8193-24_8193-21delinsCAAT) c.8190-24_8190-21delinsCAAT (n.8190-24_8190-21delinsCAAT) c.8040-24_8040-21delinsCAAT (n.8040-24_8040-21delinsCAAT) | |
5 | g.128261928_128261929insACAATACT | CA2675111533 | FBN2 | c.8193-22_8193-21insAGTATTGT (n.8193-22_8193-21insAGTATTGT) c.8190-22_8190-21insAGTATTGT (n.8190-22_8190-21insAGTATTGT) c.8040-22_8040-21insAGTATTGT (n.8040-22_8040-21insAGTATTGT) | gnomAD v4 |
5 | g.128261929T>C | CA1581234900 | FBN2 | c.8193-22A>G (n.8193-22A>G) c.8190-22A>G (n.8190-22A>G) c.8040-22A>G (n.8040-22A>G) | dbSNP gnomAD v4 |
5 | g.128261929T= | CA1581234899 | FBN2 | c.8193-22A= (n.8193-22A=) c.8190-22A= (n.8190-22A=) c.8040-22A= (n.8040-22A=) | |
5 | g.128261931_128261933del | CA3393880 | FBN2 | c.8193-24_8193-22del (n.8193-24_8193-22del) c.8190-24_8190-22del (n.8190-24_8190-22del) c.8040-24_8040-22del (n.8040-24_8040-22del) | dbSNP ExAC gnomAD v2 |
5 | g.128261933del | CA2578395602 | FBN2 | c.8193-25del (n.8193-25del) c.8190-25del (n.8190-25del) c.8040-25del (n.8040-25del) | |
5 | g.128261933T>A | CA2675111534 | FBN2 | c.8193-26A>T (n.8193-26A>T) c.8190-26A>T (n.8190-26A>T) c.8040-26A>T (n.8040-26A>T) | gnomAD v4 |
5 | g.128261933T>C | CA2675111535 | FBN2 | c.8193-26A>G (n.8193-26A>G) c.8190-26A>G (n.8190-26A>G) c.8040-26A>G (n.8040-26A>G) | gnomAD v4 |
5 | g.128261933T>G | CA650270116 | FBN2 | c.8193-26A>C (n.8193-26A>C) c.8190-26A>C (n.8190-26A>C) c.8040-26A>C (n.8040-26A>C) | COSMIC COSMIC |
5 | g.128261933T= | CA1581234901 | FBN2 | c.8193-26A= (n.8193-26A=) c.8190-26A= (n.8190-26A=) c.8040-26A= (n.8040-26A=) | |
5 | g.128261934dup | CA563056286 | FBN2 | c.8193-27dup (n.8193-27dup) c.8190-27dup (n.8190-27dup) c.8040-27dup (n.8040-27dup) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128261935G>A | CA2675111536 | FBN2 | c.8193-28C>T (n.8193-28C>T) c.8190-28C>T (n.8190-28C>T) c.8040-28C>T (n.8040-28C>T) | gnomAD v4 |
5 | g.128261935G>C | CA2768332976 | FBN2 | c.8193-28C>G (n.8193-28C>G) c.8190-28C>G (n.8190-28C>G) c.8040-28C>G (n.8040-28C>G) | |
5 | g.128261935G>T | CA2675111537 | FBN2 | c.8193-28C>A (n.8193-28C>A) c.8190-28C>A (n.8190-28C>A) c.8040-28C>A (n.8040-28C>A) | gnomAD v4 |
5 | g.128261939_128261946del | CA2675111538 | FBN2 | c.8193-36_8193-29del (n.8193-36_8193-29del) c.8190-36_8190-29del (n.8190-36_8190-29del) c.8040-36_8040-29del (n.8040-36_8040-29del) | gnomAD v4 |
5 | g.128261937C>A | CA563056287 | FBN2 | c.8193-30G>T (n.8193-30G>T) c.8190-30G>T (n.8190-30G>T) c.8040-30G>T (n.8040-30G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261937C= | CA1581234902 | FBN2 | c.8193-30G= (n.8193-30G=) c.8190-30G= (n.8190-30G=) c.8040-30G= (n.8040-30G=) | |
5 | g.128261938T>C | CA3393881 | FBN2 | c.8193-31A>G (n.8193-31A>G) c.8190-31A>G (n.8190-31A>G) c.8040-31A>G (n.8040-31A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261938T>G | CA2675111539 | FBN2 | c.8193-31A>C (n.8193-31A>C) c.8190-31A>C (n.8190-31A>C) c.8040-31A>C (n.8040-31A>C) | gnomAD v4 |
5 | g.128261938T= | CA1581234903 | FBN2 | c.8193-31A= (n.8193-31A=) c.8190-31A= (n.8190-31A=) c.8040-31A= (n.8040-31A=) | |
5 | g.128261940T>C | CA1581234905 | FBN2 | c.8193-33A>G (n.8193-33A>G) c.8190-33A>G (n.8190-33A>G) c.8040-33A>G (n.8040-33A>G) | dbSNP |
5 | g.128261940T= | CA1581234904 | FBN2 | c.8193-33A= (n.8193-33A=) c.8190-33A= (n.8190-33A=) c.8040-33A= (n.8040-33A=) | |
5 | g.128261941A>C | CA2675111540 | FBN2 | c.8193-34T>G (n.8193-34T>G) c.8190-34T>G (n.8190-34T>G) c.8040-34T>G (n.8040-34T>G) | gnomAD v4 |
5 | g.128261942T>A | CA3393882 | FBN2 | c.8193-35A>T (n.8193-35A>T) c.8190-35A>T (n.8190-35A>T) c.8040-35A>T (n.8040-35A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261942T>C | CA2578395603 | FBN2 | c.8193-35A>G (n.8193-35A>G) c.8190-35A>G (n.8190-35A>G) c.8040-35A>G (n.8040-35A>G) | |
5 | g.128261942T= | CA1581234906 | FBN2 | c.8193-35A= (n.8193-35A=) c.8190-35A= (n.8190-35A=) c.8040-35A= (n.8040-35A=) | |
5 | g.128261943C= | CA1581234907 | FBN2 | c.8193-36G= (n.8193-36G=) c.8190-36G= (n.8190-36G=) c.8040-36G= (n.8040-36G=) | |
5 | g.128261943C>T | CA3393883 | FBN2 | c.8193-36G>A (n.8193-36G>A) c.8190-36G>A (n.8190-36G>A) c.8040-36G>A (n.8040-36G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128261944A>C | CA2675111541 | FBN2 | c.8193-37T>G (n.8193-37T>G) c.8190-37T>G (n.8190-37T>G) c.8040-37T>G (n.8040-37T>G) | gnomAD v4 |
5 | g.128261945C>G | CA2675111542 | FBN2 | c.8193-38G>C (n.8193-38G>C) c.8190-38G>C (n.8190-38G>C) c.8040-38G>C (n.8040-38G>C) | gnomAD v4 |
5 | g.128261945C>T | CA2675111543 | FBN2 | c.8193-38G>A (n.8193-38G>A) c.8190-38G>A (n.8190-38G>A) c.8040-38G>A (n.8040-38G>A) | gnomAD v4 |
5 | g.128261946T>C | CA3393884 | FBN2 | c.8193-39A>G (n.8193-39A>G) c.8190-39A>G (n.8190-39A>G) c.8040-39A>G (n.8040-39A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261946T>G | CA563056288 | FBN2 | c.8193-39A>C (n.8193-39A>C) c.8190-39A>C (n.8190-39A>C) c.8040-39A>C (n.8040-39A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261946T= | CA1581234908 | FBN2 | c.8193-39A= (n.8193-39A=) c.8190-39A= (n.8190-39A=) c.8040-39A= (n.8040-39A=) | |
5 | g.128261947G>T | CA650270131 | FBN2 | c.8193-40C>A (n.8193-40C>A) c.8190-40C>A (n.8190-40C>A) c.8040-40C>A (n.8040-40C>A) | gnomAD v4 COSMIC |
5 | g.128261948A>G | CA2675111544 | FBN2 | c.8193-41T>C (n.8193-41T>C) c.8190-41T>C (n.8190-41T>C) c.8040-41T>C (n.8040-41T>C) | gnomAD v4 |
5 | g.128261949C>T | CA2675111545 | FBN2 | c.8193-42G>A (n.8193-42G>A) c.8190-42G>A (n.8190-42G>A) c.8040-42G>A (n.8040-42G>A) | gnomAD v4 |
5 | g.128261951T>C | CA563056289 | FBN2 | c.8193-44A>G (n.8193-44A>G) c.8190-44A>G (n.8190-44A>G) c.8040-44A>G (n.8040-44A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.128261951T>G | CA2578395604 | FBN2 | c.8193-44A>C (n.8193-44A>C) c.8190-44A>C (n.8190-44A>C) c.8040-44A>C (n.8040-44A>C) | gnomAD v4 |
5 | g.128261951T= | CA1581234909 | FBN2 | c.8193-44A= (n.8193-44A=) c.8190-44A= (n.8190-44A=) c.8040-44A= (n.8040-44A=) | |
5 | g.128261952G>A | CA2578395605 | FBN2 | c.8193-45C>T (n.8193-45C>T) c.8190-45C>T (n.8190-45C>T) c.8040-45C>T (n.8040-45C>T) | gnomAD v4 |
5 | g.128261952G>T | CA2578395606 | FBN2 | c.8193-45C>A (n.8193-45C>A) c.8190-45C>A (n.8190-45C>A) c.8040-45C>A (n.8040-45C>A) | gnomAD v4 |
5 | g.128261954C>G | CA2768332981 | FBN2 | c.8193-47G>C (n.8193-47G>C) c.8190-47G>C (n.8190-47G>C) c.8040-47G>C (n.8040-47G>C) | |
5 | g.128261955del | CA2578395607 | FBN2 | c.8193-47del (n.8193-47del) c.8190-47del (n.8190-47del) c.8040-47del (n.8040-47del) | gnomAD v4 |
5 | g.128261957T>C | CA3393885 | FBN2 | c.8193-50A>G (n.8193-50A>G) c.8190-50A>G (n.8190-50A>G) c.8040-50A>G (n.8040-50A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128261957T= | CA1581234910 | FBN2 | c.8193-50A= (n.8193-50A=) c.8190-50A= (n.8190-50A=) c.8040-50A= (n.8040-50A=) | |
5 | g.128261958A= | CA1581234911 | FBN2 | c.8193-51T= (n.8193-51T=) c.8190-51T= (n.8190-51T=) c.8040-51T= (n.8040-51T=) | |
5 | g.128261958A>C | CA2578395608 | FBN2 | c.8193-51T>G (n.8193-51T>G) c.8190-51T>G (n.8190-51T>G) c.8040-51T>G (n.8040-51T>G) | gnomAD v4 |
5 | g.128261958A>G | CA563056290 | FBN2 | c.8193-51T>C (n.8193-51T>C) c.8190-51T>C (n.8190-51T>C) c.8040-51T>C (n.8040-51T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128261959G>T | CA2675111546 | FBN2 | c.8193-52C>A (n.8193-52C>A) c.8190-52C>A (n.8190-52C>A) c.8040-52C>A (n.8040-52C>A) | gnomAD v4 |