Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128261861G>ACA446305693FBN2c.8239C>T (p.Leu2747=)
c.8236C>T (p.Leu2746=)
c.8086C>T (p.Leu2696=)
5g.128261861G>CCA320216FBN2c.8239C>G (p.Leu2747Val)
c.8236C>G (p.Leu2746Val)
c.8086C>G (p.Leu2696Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261861G=CA1581234868FBN2c.8239C= (p.Leu2747=)
c.8236C= (p.Leu2746=)
c.8086C= (p.Leu2696=)
5g.128261861G>TCA360747899FBN2c.8239C>A (p.Leu2747Met)
c.8236C>A (p.Leu2746Met)
c.8086C>A (p.Leu2696Met)
5g.128261862T>ACA446305694FBN2c.8238A>T (p.Ser2746=)
c.8235A>T (p.Ser2745=)
c.8085A>T (p.Ser2695=)
5g.128261862T>CCA446305695FBN2c.8238A>G (p.Ser2746=)
c.8235A>G (p.Ser2745=)
c.8085A>G (p.Ser2695=)
 gnomAD v4
5g.128261862T>GCA446305696FBN2c.8238A>C (p.Ser2746=)
c.8235A>C (p.Ser2745=)
c.8085A>C (p.Ser2695=)
5g.128261863G>ACA360747903FBN2c.8237C>T (p.Ser2746Leu)
c.8234C>T (p.Ser2745Leu)
c.8084C>T (p.Ser2695Leu)
5g.128261863G>CCA360747904FBN2c.8237C>G (p.Ser2746Ter)
c.8234C>G (p.Ser2745Ter)
c.8084C>G (p.Ser2695Ter)
5g.128261863G>TCA360747905FBN2c.8237C>A (p.Ser2746Ter)
c.8234C>A (p.Ser2745Ter)
c.8084C>A (p.Ser2695Ter)
5g.128261864A>CCA360747908FBN2c.8236T>G (p.Ser2746Ala)
c.8233T>G (p.Ser2745Ala)
c.8083T>G (p.Ser2695Ala)
5g.128261864A>GCA360747912FBN2c.8236T>C (p.Ser2746Pro)
c.8233T>C (p.Ser2745Pro)
c.8083T>C (p.Ser2695Pro)
5g.128261864A>TCA360747914FBN2c.8236T>A (p.Ser2746Thr)
c.8233T>A (p.Ser2745Thr)
c.8083T>A (p.Ser2695Thr)
5g.128261865C>ACA446305697FBN2c.8235G>T (p.Leu2745=)
c.8232G>T (p.Leu2744=)
c.8082G>T (p.Leu2694=)
5g.128261865C=CA1581234869FBN2c.8235G= (p.Leu2745=)
c.8232G= (p.Leu2744=)
c.8082G= (p.Leu2694=)
5g.128261865C>GCA3393870FBN2c.8235G>C (p.Leu2745=)
c.8232G>C (p.Leu2744=)
c.8082G>C (p.Leu2694=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128261865C>TCA446305698FBN2c.8235G>A (p.Leu2745=)
c.8232G>A (p.Leu2744=)
c.8082G>A (p.Leu2694=)
5g.128261866A>CCA360747920FBN2c.8234T>G (p.Leu2745Arg)
c.8231T>G (p.Leu2744Arg)
c.8081T>G (p.Leu2694Arg)
5g.128261866A>GCA360747923FBN2c.8234T>C (p.Leu2745Pro)
c.8231T>C (p.Leu2744Pro)
c.8081T>C (p.Leu2694Pro)
5g.128261866A>TCA360747927FBN2c.8234T>A (p.Leu2745Gln)
c.8231T>A (p.Leu2744Gln)
c.8081T>A (p.Leu2694Gln)
5g.128261867G>ACA446305699FBN2c.8233C>T (p.Leu2745=)
c.8230C>T (p.Leu2744=)
c.8080C>T (p.Leu2694=)
5g.128261867G>CCA360747930FBN2c.8233C>G (p.Leu2745Val)
c.8230C>G (p.Leu2744Val)
c.8080C>G (p.Leu2694Val)
5g.128261867G>TCA360747933FBN2c.8233C>A (p.Leu2745Met)
c.8230C>A (p.Leu2744Met)
c.8080C>A (p.Leu2694Met)
5g.128261868G>ACA446305700FBN2c.8232C>T (p.Tyr2744=)
c.8229C>T (p.Tyr2743=)
c.8079C>T (p.Tyr2693=)
5g.128261868G>CCA360747952FBN2c.8232C>G (p.Tyr2744Ter)
c.8229C>G (p.Tyr2743Ter)
c.8079C>G (p.Tyr2693Ter)
 COSMIC COSMIC
5g.128261868G>TCA360747950FBN2c.8232C>A (p.Tyr2744Ter)
c.8229C>A (p.Tyr2743Ter)
c.8079C>A (p.Tyr2693Ter)
5g.128261869T>ACA360747955FBN2c.8231A>T (p.Tyr2744Phe)
c.8228A>T (p.Tyr2743Phe)
c.8078A>T (p.Tyr2693Phe)
5g.128261869T>CCA360747961FBN2c.8231A>G (p.Tyr2744Cys)
c.8228A>G (p.Tyr2743Cys)
c.8078A>G (p.Tyr2693Cys)
5g.128261869T>GCA360747959FBN2c.8231A>C (p.Tyr2744Ser)
c.8228A>C (p.Tyr2743Ser)
c.8078A>C (p.Tyr2693Ser)
5g.128261870A=CA1581234870FBN2c.8230T= (p.Tyr2744=)
c.8227T= (p.Tyr2743=)
c.8077T= (p.Tyr2693=)
5g.128261870A>CCA3393871FBN2c.8230T>G (p.Tyr2744Asp)
c.8227T>G (p.Tyr2743Asp)
c.8077T>G (p.Tyr2693Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261870A>GCA360747967FBN2c.8230T>C (p.Tyr2744His)
c.8227T>C (p.Tyr2743His)
c.8077T>C (p.Tyr2693His)
5g.128261870A>TCA360747970FBN2c.8230T>A (p.Tyr2744Asn)
c.8227T>A (p.Tyr2743Asn)
c.8077T>A (p.Tyr2693Asn)
5g.128261871C>ACA360747976FBN2c.8229G>T (p.Gln2743His)
c.8226G>T (p.Gln2742His)
c.8076G>T (p.Gln2692His)
5g.128261871C=CA1581234871FBN2c.8229G= (p.Gln2743=)
c.8226G= (p.Gln2742=)
c.8076G= (p.Gln2692=)
5g.128261871C>GCA360747979FBN2c.8229G>C (p.Gln2743His)
c.8226G>C (p.Gln2742His)
c.8076G>C (p.Gln2692His)
5g.128261871C>TCA3393872FBN2c.8229G>A (p.Gln2743=)
c.8226G>A (p.Gln2742=)
c.8076G>A (p.Gln2692=)
 dbSNP ExAC
5g.128261872T>ACA360747984FBN2c.8228A>T (p.Gln2743Leu)
c.8225A>T (p.Gln2742Leu)
c.8075A>T (p.Gln2692Leu)
5g.128261872T>CCA360747986FBN2c.8228A>G (p.Gln2743Arg)
c.8225A>G (p.Gln2742Arg)
c.8075A>G (p.Gln2692Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.128261872T>GCA360747991FBN2c.8228A>C (p.Gln2743Pro)
c.8225A>C (p.Gln2742Pro)
c.8075A>C (p.Gln2692Pro)
5g.128261872T=CA1581234872FBN2c.8228A= (p.Gln2743=)
c.8225A= (p.Gln2742=)
c.8075A= (p.Gln2692=)
5g.128261873delCA2675111527FBN2c.8227del (p.Gln2743SerfsTer?)
c.8224del (p.Gln2742SerfsTer?)
c.8074del (p.Gln2692SerfsTer?)
 gnomAD v4
5g.128261873G>ACA360747995FBN2c.8227C>T (p.Gln2743Ter)
c.8224C>T (p.Gln2742Ter)
c.8074C>T (p.Gln2692Ter)
5g.128261873G>CCA360747996FBN2c.8227C>G (p.Gln2743Glu)
c.8224C>G (p.Gln2742Glu)
c.8074C>G (p.Gln2692Glu)
5g.128261873G=CA1581234873FBN2c.8227C= (p.Gln2743=)
c.8224C= (p.Gln2742=)
c.8074C= (p.Gln2692=)
5g.128261873G>TCA360748000FBN2c.8227C>A (p.Gln2743Lys)
c.8224C>A (p.Gln2742Lys)
c.8074C>A (p.Gln2692Lys)
 dbSNP gnomAD v4
5g.128261874C>ACA446305701FBN2c.8226G>T (p.Gly2742=)
c.8223G>T (p.Gly2741=)
c.8073G>T (p.Gly2691=)
5g.128261874C=CA1581234874FBN2c.8226G= (p.Gly2742=)
c.8223G= (p.Gly2741=)
c.8073G= (p.Gly2691=)
5g.128261874C>GCA446305702FBN2c.8226G>C (p.Gly2742=)
c.8223G>C (p.Gly2741=)
c.8073G>C (p.Gly2691=)
5g.128261874C>TCA3393873FBN2c.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
5g.128261877_128261889delCA2675111528FBN2c.8214_8226del (p.Phe2739SerfsTer?)
c.8211_8223del (p.Phe2738SerfsTer?)
c.8061_8073del (p.Phe2688SerfsTer?)
 gnomAD v4
5g.128261875C>ACA360748019FBN2c.8225G>T (p.Gly2742Val)
c.8222G>T (p.Gly2741Val)
c.8072G>T (p.Gly2691Val)
5g.128261875C>GCA360748023FBN2c.8225G>C (p.Gly2742Ala)
c.8222G>C (p.Gly2741Ala)
c.8072G>C (p.Gly2691Ala)
 COSMIC COSMIC
5g.128261875C>TCA360748026FBN2c.8225G>A (p.Gly2742Glu)
c.8222G>A (p.Gly2741Glu)
c.8072G>A (p.Gly2691Glu)
5g.128261876C>ACA360748029FBN2c.8224G>T (p.Gly2742Trp)
c.8221G>T (p.Gly2741Trp)
c.8071G>T (p.Gly2691Trp)
5g.128261876C=CA1581234875FBN2c.8224G= (p.Gly2742=)
c.8221G= (p.Gly2741=)
c.8071G= (p.Gly2691=)
5g.128261876C>GCA360748033FBN2c.8224G>C (p.Gly2742Arg)
c.8221G>C (p.Gly2741Arg)
c.8071G>C (p.Gly2691Arg)
5g.128261876C>TCA360748036FBN2c.8224G>A (p.Gly2742Arg)
c.8221G>A (p.Gly2741Arg)
c.8071G>A (p.Gly2691Arg)
 dbSNP COSMIC COSMIC
5g.128261877C>ACA360748038FBN2c.8223G>T (p.Lys2741Asn)
c.8220G>T (p.Lys2740Asn)
c.8070G>T (p.Lys2690Asn)
5g.128261877C>GCA360748045FBN2c.8223G>C (p.Lys2741Asn)
c.8220G>C (p.Lys2740Asn)
c.8070G>C (p.Lys2690Asn)
5g.128261877C>TCA446305703FBN2c.8223G>A (p.Lys2741=)
c.8220G>A (p.Lys2740=)
c.8070G>A (p.Lys2690=)
5g.128261878T>ACA360748050FBN2c.8222A>T (p.Lys2741Met)
c.8219A>T (p.Lys2740Met)
c.8069A>T (p.Lys2690Met)
5g.128261878T>CCA360748053FBN2c.8222A>G (p.Lys2741Arg)
c.8219A>G (p.Lys2740Arg)
c.8069A>G (p.Lys2690Arg)
5g.128261878T>GCA360748056FBN2c.8222A>C (p.Lys2741Thr)
c.8219A>C (p.Lys2740Thr)
c.8069A>C (p.Lys2690Thr)
5g.128261879T>ACA360748063FBN2c.8221A>T (p.Lys2741Ter)
c.8218A>T (p.Lys2740Ter)
c.8068A>T (p.Lys2690Ter)
5g.128261879T>CCA360748066FBN2c.8221A>G (p.Lys2741Glu)
c.8218A>G (p.Lys2740Glu)
c.8068A>G (p.Lys2690Glu)
5g.128261879T>GCA360748069FBN2c.8221A>C (p.Lys2741Gln)
c.8218A>C (p.Lys2740Gln)
c.8068A>C (p.Lys2690Gln)
5g.128261880G>ACA446305704FBN2c.8220C>T (p.Asn2740=)
c.8217C>T (p.Asn2739=)
c.8067C>T (p.Asn2689=)
5g.128261880G>CCA360748073FBN2c.8220C>G (p.Asn2740Lys)
c.8217C>G (p.Asn2739Lys)
c.8067C>G (p.Asn2689Lys)
5g.128261880G>TCA360748076FBN2c.8220C>A (p.Asn2740Lys)
c.8217C>A (p.Asn2739Lys)
c.8067C>A (p.Asn2689Lys)
 gnomAD v4
5g.128261881T>ACA360748078FBN2c.8219A>T (p.Asn2740Ile)
c.8216A>T (p.Asn2739Ile)
c.8066A>T (p.Asn2689Ile)
5g.128261881T>CCA360748084FBN2c.8219A>G (p.Asn2740Ser)
c.8216A>G (p.Asn2739Ser)
c.8066A>G (p.Asn2689Ser)
5g.128261881T>GCA360748082FBN2c.8219A>C (p.Asn2740Thr)
c.8216A>C (p.Asn2739Thr)
c.8066A>C (p.Asn2689Thr)
5g.128261882T>ACA360748086FBN2c.8218A>T (p.Asn2740Tyr)
c.8215A>T (p.Asn2739Tyr)
c.8065A>T (p.Asn2689Tyr)
5g.128261882T>CCA360748091FBN2c.8218A>G (p.Asn2740Asp)
c.8215A>G (p.Asn2739Asp)
c.8065A>G (p.Asn2689Asp)
5g.128261882T>GCA360748089FBN2c.8218A>C (p.Asn2740His)
c.8215A>C (p.Asn2739His)
c.8065A>C (p.Asn2689His)
 gnomAD v4
5g.128261883A>CCA360748094FBN2c.8217T>G (p.Phe2739Leu)
c.8214T>G (p.Phe2738Leu)
c.8064T>G (p.Phe2688Leu)
5g.128261883A>GCA446305705FBN2c.8217T>C (p.Phe2739=)
c.8214T>C (p.Phe2738=)
c.8064T>C (p.Phe2688=)
5g.128261883A>TCA360748095FBN2c.8217T>A (p.Phe2739Leu)
c.8214T>A (p.Phe2738Leu)
c.8064T>A (p.Phe2688Leu)
5g.128261884A>CCA360748096FBN2c.8216T>G (p.Phe2739Cys)
c.8213T>G (p.Phe2738Cys)
c.8063T>G (p.Phe2688Cys)
 COSMIC COSMIC
5g.128261884A>GCA360748097FBN2c.8216T>C (p.Phe2739Ser)
c.8213T>C (p.Phe2738Ser)
c.8063T>C (p.Phe2688Ser)
5g.128261884A>TCA360748100FBN2c.8216T>A (p.Phe2739Tyr)
c.8213T>A (p.Phe2738Tyr)
c.8063T>A (p.Phe2688Tyr)
5g.128261885A=CA1581234876FBN2c.8215T= (p.Phe2739=)
c.8212T= (p.Phe2738=)
c.8062T= (p.Phe2688=)
5g.128261885A>CCA360748112FBN2c.8215T>G (p.Phe2739Val)
c.8212T>G (p.Phe2738Val)
c.8062T>G (p.Phe2688Val)
5g.128261885A>GCA360748115FBN2c.8215T>C (p.Phe2739Leu)
c.8212T>C (p.Phe2738Leu)
c.8062T>C (p.Phe2688Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128261885A>TCA360748118FBN2c.8215T>A (p.Phe2739Ile)
c.8212T>A (p.Phe2738Ile)
c.8062T>A (p.Phe2688Ile)
5g.128261886T>ACA446305706FBN2c.8214A>T (p.Gly2738=)
c.8211A>T (p.Gly2737=)
c.8061A>T (p.Gly2687=)
 gnomAD v4
5g.128261886T>CCA446305707FBN2c.8214A>G (p.Gly2738=)
c.8211A>G (p.Gly2737=)
c.8061A>G (p.Gly2687=)
 dbSNP gnomAD v2 gnomAD v4
5g.128261886T>GCA446305708FBN2c.8214A>C (p.Gly2738=)
c.8211A>C (p.Gly2737=)
c.8061A>C (p.Gly2687=)
5g.128261886T=CA1581234877FBN2c.8214A= (p.Gly2738=)
c.8211A= (p.Gly2737=)
c.8061A= (p.Gly2687=)
5g.128261887C>ACA360748121FBN2c.8213G>T (p.Gly2738Val)
c.8210G>T (p.Gly2737Val)
c.8060G>T (p.Gly2687Val)
5g.128261887C>GCA360748124FBN2c.8213G>C (p.Gly2738Ala)
c.8210G>C (p.Gly2737Ala)
c.8060G>C (p.Gly2687Ala)
5g.128261887C>TCA360748127FBN2c.8213G>A (p.Gly2738Glu)
c.8210G>A (p.Gly2737Glu)
c.8060G>A (p.Gly2687Glu)
5g.128261888C>ACA360748138FBN2c.8212G>T (p.Gly2738Ter)
c.8209G>T (p.Gly2737Ter)
c.8059G>T (p.Gly2687Ter)
5g.128261888C=CA1581234878FBN2c.8212G= (p.Gly2738=)
c.8209G= (p.Gly2737=)
c.8059G= (p.Gly2687=)
5g.128261888C>GCA360748134FBN2c.8212G>C (p.Gly2738Arg)
c.8209G>C (p.Gly2737Arg)
c.8059G>C (p.Gly2687Arg)
5g.128261888C>TCA360748131FBN2c.8212G>A (p.Gly2738Arg)
c.8209G>A (p.Gly2737Arg)
c.8059G>A (p.Gly2687Arg)
 ClinVar dbSNP
5g.128261889C>ACA360748143FBN2c.8211G>T (p.Met2737Ile)
c.8208G>T (p.Met2736Ile)
c.8058G>T (p.Met2686Ile)
5g.128261889C>GCA360748144FBN2c.8211G>C (p.Met2737Ile)
c.8208G>C (p.Met2736Ile)
c.8058G>C (p.Met2686Ile)
5g.128261889C>TCA360748148FBN2c.8211G>A (p.Met2737Ile)
c.8208G>A (p.Met2736Ile)
c.8058G>A (p.Met2686Ile)
 gnomAD v4
5g.128261890A>CCA360748152FBN2c.8210T>G (p.Met2737Arg)
c.8207T>G (p.Met2736Arg)
c.8057T>G (p.Met2686Arg)
5g.128261890A>GCA360748155FBN2c.8210T>C (p.Met2737Thr)
c.8207T>C (p.Met2736Thr)
c.8057T>C (p.Met2686Thr)
 gnomAD v4
5g.128261890A>TCA360748159FBN2c.8210T>A (p.Met2737Lys)
c.8207T>A (p.Met2736Lys)
c.8057T>A (p.Met2686Lys)
5g.128261891T>ACA360748162FBN2c.8209A>T (p.Met2737Leu)
c.8206A>T (p.Met2736Leu)
c.8056A>T (p.Met2686Leu)
5g.128261891T>CCA360748165FBN2c.8209A>G (p.Met2737Val)
c.8206A>G (p.Met2736Val)
c.8056A>G (p.Met2686Val)
5g.128261891T>GCA360748167FBN2c.8209A>C (p.Met2737Leu)
c.8206A>C (p.Met2736Leu)
c.8056A>C (p.Met2686Leu)
5g.128261892T>ACA446305709FBN2c.8208A>T (p.Gly2736=)
c.8205A>T (p.Gly2735=)
c.8055A>T (p.Gly2685=)
5g.128261892T>CCA446305710FBN2c.8208A>G (p.Gly2736=)
c.8205A>G (p.Gly2735=)
c.8055A>G (p.Gly2685=)
5g.128261892T>GCA446305711FBN2c.8208A>C (p.Gly2736=)
c.8205A>C (p.Gly2735=)
c.8055A>C (p.Gly2685=)
 gnomAD v4
5g.128261893C>ACA360748171FBN2c.8207G>T (p.Gly2736Val)
c.8204G>T (p.Gly2735Val)
c.8054G>T (p.Gly2685Val)
5g.128261893C=CA1581234879FBN2c.8207G= (p.Gly2736=)
c.8204G= (p.Gly2735=)
c.8054G= (p.Gly2685=)
5g.128261893C>GCA360748173FBN2c.8207G>C (p.Gly2736Ala)
c.8204G>C (p.Gly2735Ala)
c.8054G>C (p.Gly2685Ala)
5g.128261893C>TCA321883FBN2c.8207G>A (p.Gly2736Glu)
c.8204G>A (p.Gly2735Glu)
c.8054G>A (p.Gly2685Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261894C>ACA360748181FBN2c.8206G>T (p.Gly2736Ter)
c.8203G>T (p.Gly2735Ter)
c.8053G>T (p.Gly2685Ter)
5g.128261894C=CA1581234880FBN2c.8206G= (p.Gly2736=)
c.8203G= (p.Gly2735=)
c.8053G= (p.Gly2685=)
5g.128261894C>GCA360748178FBN2c.8206G>C (p.Gly2736Arg)
c.8203G>C (p.Gly2735Arg)
c.8053G>C (p.Gly2685Arg)
5g.128261894C>TCA3393874FBN2c.8206G>A (p.Gly2736Arg)
c.8203G>A (p.Gly2735Arg)
c.8053G>A (p.Gly2685Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128261895T>ACA446305712FBN2c.8205A>T (p.Ser2735=)
c.8202A>T (p.Ser2734=)
c.8052A>T (p.Ser2684=)
5g.128261895T>CCA446305713FBN2c.8205A>G (p.Ser2735=)
c.8202A>G (p.Ser2734=)
c.8052A>G (p.Ser2684=)
 dbSNP gnomAD v2 gnomAD v4
5g.128261895T>GCA446305714FBN2c.8205A>C (p.Ser2735=)
c.8202A>C (p.Ser2734=)
c.8052A>C (p.Ser2684=)
5g.128261895T=CA1581234881FBN2c.8205A= (p.Ser2735=)
c.8202A= (p.Ser2734=)
c.8052A= (p.Ser2684=)
5g.128261896G>ACA360748189FBN2c.8204C>T (p.Ser2735Leu)
c.8201C>T (p.Ser2734Leu)
c.8051C>T (p.Ser2684Leu)
5g.128261896G>CCA360748182FBN2c.8204C>G (p.Ser2735Ter)
c.8201C>G (p.Ser2734Ter)
c.8051C>G (p.Ser2684Ter)
5g.128261896G>TCA360748186FBN2c.8204C>A (p.Ser2735Ter)
c.8201C>A (p.Ser2734Ter)
c.8051C>A (p.Ser2684Ter)
5g.128261897A>CCA360748194FBN2c.8203T>G (p.Ser2735Ala)
c.8200T>G (p.Ser2734Ala)
c.8050T>G (p.Ser2684Ala)
 gnomAD v4
5g.128261897A>GCA360748196FBN2c.8203T>C (p.Ser2735Pro)
c.8200T>C (p.Ser2734Pro)
c.8050T>C (p.Ser2684Pro)
5g.128261897A>TCA360748199FBN2c.8203T>A (p.Ser2735Thr)
c.8200T>A (p.Ser2734Thr)
c.8050T>A (p.Ser2684Thr)
5g.128261898G>ACA446305715FBN2c.8202C>T (p.Val2734=)
c.8199C>T (p.Val2733=)
c.8049C>T (p.Val2683=)
5g.128261898G>CCA446305716FBN2c.8202C>G (p.Val2734=)
c.8199C>G (p.Val2733=)
c.8049C>G (p.Val2683=)
 dbSNP
5g.128261898G=CA1581234882FBN2c.8202C= (p.Val2734=)
c.8199C= (p.Val2733=)
c.8049C= (p.Val2683=)
5g.128261898G>TCA446305717FBN2c.8202C>A (p.Val2734=)
c.8199C>A (p.Val2733=)
c.8049C>A (p.Val2683=)
5g.128261899A=CA1581234883FBN2c.8201T= (p.Val2734=)
c.8198T= (p.Val2733=)
c.8048T= (p.Val2683=)
5g.128261899A>CCA360748203FBN2c.8201T>G (p.Val2734Gly)
c.8198T>G (p.Val2733Gly)
c.8048T>G (p.Val2683Gly)
5g.128261899A>GCA360748211FBN2c.8201T>C (p.Val2734Ala)
c.8198T>C (p.Val2733Ala)
c.8048T>C (p.Val2683Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.128261899A>TCA360748214FBN2c.8201T>A (p.Val2734Asp)
c.8198T>A (p.Val2733Asp)
c.8048T>A (p.Val2683Asp)
5g.128261900C>ACA360748219FBN2c.8200G>T (p.Val2734Phe)
c.8197G>T (p.Val2733Phe)
c.8047G>T (p.Val2683Phe)
5g.128261900C>GCA360748220FBN2c.8200G>C (p.Val2734Leu)
c.8197G>C (p.Val2733Leu)
c.8047G>C (p.Val2683Leu)
5g.128261900C>TCA360748222FBN2c.8200G>A (p.Val2734Ile)
c.8197G>A (p.Val2733Ile)
c.8047G>A (p.Val2683Ile)
 gnomAD v4
5g.128261901A>CCA360748225FBN2c.8199T>G (p.Cys2733Trp)
c.8196T>G (p.Cys2732Trp)
c.8046T>G (p.Cys2682Trp)
5g.128261901A>GCA446305718FBN2c.8199T>C (p.Cys2733=)
c.8196T>C (p.Cys2732=)
c.8046T>C (p.Cys2682=)
5g.128261901A>TCA360748228FBN2c.8199T>A (p.Cys2733Ter)
c.8196T>A (p.Cys2732Ter)
c.8046T>A (p.Cys2682Ter)
5g.128261902C>ACA360748238FBN2c.8198G>T (p.Cys2733Phe)
c.8195G>T (p.Cys2732Phe)
c.8045G>T (p.Cys2682Phe)
5g.128261902C>GCA360748231FBN2c.8198G>C (p.Cys2733Ser)
c.8195G>C (p.Cys2732Ser)
c.8045G>C (p.Cys2682Ser)
5g.128261902C>TCA360748234FBN2c.8198G>A (p.Cys2733Tyr)
c.8195G>A (p.Cys2732Tyr)
c.8045G>A (p.Cys2682Tyr)
5g.128261903A>CCA360748241FBN2c.8197T>G (p.Cys2733Gly)
c.8194T>G (p.Cys2732Gly)
c.8044T>G (p.Cys2682Gly)
5g.128261903A>GCA360748243FBN2c.8197T>C (p.Cys2733Arg)
c.8194T>C (p.Cys2732Arg)
c.8044T>C (p.Cys2682Arg)
5g.128261903A>TCA360748246FBN2c.8197T>A (p.Cys2733Ser)
c.8194T>A (p.Cys2732Ser)
c.8044T>A (p.Cys2682Ser)
5g.128261904G>ACA3393875FBN2c.8196C>T (p.His2732=)
c.8193C>T (p.His2731=)
c.8043C>T (p.His2681=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261904G>CCA360748251FBN2c.8196C>G (p.His2732Gln)
c.8193C>G (p.His2731Gln)
c.8043C>G (p.His2681Gln)
5g.128261904G=CA1581234884FBN2c.8196C= (p.His2732=)
c.8193C= (p.His2731=)
c.8043C= (p.His2681=)
5g.128261904G>TCA360748254FBN2c.8196C>A (p.His2732Gln)
c.8193C>A (p.His2731Gln)
c.8043C>A (p.His2681Gln)
5g.128261905T>ACA360748258FBN2c.8195A>T (p.His2732Leu)
c.8192A>T (p.His2731Leu)
c.8042A>T (p.His2681Leu)
5g.128261905T>CCA360748261FBN2c.8195A>G (p.His2732Arg)
c.8192A>G (p.His2731Arg)
c.8042A>G (p.His2681Arg)
 gnomAD v4
5g.128261905T>GCA360748263FBN2c.8195A>C (p.His2732Pro)
c.8192A>C (p.His2731Pro)
c.8042A>C (p.His2681Pro)
5g.128261906G>ACA360748267FBN2c.8194C>T (p.His2732Tyr)
c.8191C>T (p.His2731Tyr)
c.8041C>T (p.His2681Tyr)
5g.128261906G>CCA360748269FBN2c.8194C>G (p.His2732Asp)
c.8191C>G (p.His2731Asp)
c.8041C>G (p.His2681Asp)
5g.128261906G>TCA360748271FBN2c.8194C>A (p.His2732Asn)
c.8191C>A (p.His2731Asn)
c.8041C>A (p.His2681Asn)
5g.128261907G>ACA446305721FBN2c.8193C>T (p.Gly2731=)
c.8190C>T (p.Gly2730=)
c.8040C>T (p.Gly2680=)
 ClinVar gnomAD v4
5g.128261907G>CCA446305720FBN2c.8193C>G (p.Gly2731=)
c.8190C>G (p.Gly2730=)
c.8040C>G (p.Gly2680=)
5g.128261907G>TCA446305719FBN2c.8193C>A (p.Gly2731=)
c.8190C>A (p.Gly2730=)
c.8040C>A (p.Gly2680=)
5g.128261908C>ACA360748278FBN2c.8193-1G>T (n.8193-1G>T)
c.8190-1G>T (n.8190-1G>T)
c.8040-1G>T (n.8040-1G>T)
5g.128261908C>GCA360748280FBN2c.8193-1G>C (n.8193-1G>C)
c.8190-1G>C (n.8190-1G>C)
c.8040-1G>C (n.8040-1G>C)
5g.128261908C>TCA360748275FBN2c.8193-1G>A (n.8193-1G>A)
c.8190-1G>A (n.8190-1G>A)
c.8040-1G>A (n.8040-1G>A)
5g.128261909T>ACA360748284FBN2c.8193-2A>T (n.8193-2A>T)
c.8190-2A>T (n.8190-2A>T)
c.8040-2A>T (n.8040-2A>T)
5g.128261909T>CCA360748294FBN2c.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
5g.128261909T>GCA360748291FBN2c.8193-2A>C (n.8193-2A>C)
c.8190-2A>C (n.8190-2A>C)
c.8040-2A>C (n.8040-2A>C)
5g.128261910A=CA1581234885FBN2c.8193-3T= (n.8193-3T=)
c.8190-3T= (n.8190-3T=)
c.8040-3T= (n.8040-3T=)
5g.128261910A>GCA563056283FBN2c.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
5g.128261911T>ACA2578395596FBN2c.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
5g.128261911T>CCA10587594FBN2c.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
5g.128261911T=CA1581234886FBN2c.8193-4A= (n.8193-4A=)
c.8190-4A= (n.8190-4A=)
c.8040-4A= (n.8040-4A=)
5g.128261913T>CCA3393876FBN2c.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
5g.128261913T=CA1581234887FBN2c.8193-6A= (n.8193-6A=)
c.8190-6A= (n.8190-6A=)
c.8040-6A= (n.8040-6A=)
5g.128261914G>CCA325257FBN2c.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
5g.128261914G=CA1581234888FBN2c.8193-7C= (n.8193-7C=)
c.8190-7C= (n.8190-7C=)
c.8040-7C= (n.8040-7C=)
5g.128261916A=CA1581234889FBN2c.8193-9T= (n.8193-9T=)
c.8190-9T= (n.8190-9T=)
c.8040-9T= (n.8040-9T=)
5g.128261916A>CCA3393877FBN2c.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
5g.128261916A>GCA2675111529FBN2c.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
5g.128261919A>GCA2675111530FBN2c.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
5g.128261920A=CA1581234890FBN2c.8193-13T= (n.8193-13T=)
c.8190-13T= (n.8190-13T=)
c.8040-13T= (n.8040-13T=)
5g.128261920A>GCA3393878FBN2c.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
5g.128261921G>ACA563056284FBN2c.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
5g.128261921G=CA1581234891FBN2c.8193-14C= (n.8193-14C=)
c.8190-14C= (n.8190-14C=)
c.8040-14C= (n.8040-14C=)
5g.128261922C>ACA2709806827FBN2c.8193-15G>T (n.8193-15G>T)
c.8190-15G>T (n.8190-15G>T)
c.8040-15G>T (n.8040-15G>T)
 dbSNP
5g.128261922C=CA1581234893FBN2c.8193-15G= (n.8193-15G=)
c.8190-15G= (n.8190-15G=)
c.8040-15G= (n.8040-15G=)
5g.128261922C>TCA1581234892FBN2c.8193-15G>A (n.8193-15G>A)
c.8190-15G>A (n.8190-15G>A)
c.8040-15G>A (n.8040-15G>A)
 dbSNP
5g.128261923A>GCA2675111531FBN2c.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
5g.128261925A=CA1581234894FBN2c.8193-18T= (n.8193-18T=)
c.8190-18T= (n.8190-18T=)
c.8040-18T= (n.8040-18T=)
5g.128261925A>TCA16605238FBN2c.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
5g.128261926G>ACA127003866FBN2c.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
5g.128261926G>CCA3393879FBN2c.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
5g.128261926G=CA1581234895FBN2c.8193-19C= (n.8193-19C=)
c.8190-19C= (n.8190-19C=)
c.8040-19C= (n.8040-19C=)
5g.128261926G>TCA563056285FBN2c.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
5g.128261927_128261928insCTCA2675111532FBN2c.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
5g.128261928A=CA1581234896FBN2c.8193-21T= (n.8193-21T=)
c.8190-21T= (n.8190-21T=)
c.8040-21T= (n.8040-21T=)
5g.128261928A>GCA1581234897FBN2c.8193-21T>C (n.8193-21T>C)
c.8190-21T>C (n.8190-21T>C)
c.8040-21T>C (n.8040-21T>C)
 dbSNP
5g.128261928_128261931delinsATTGCA1581234898FBN2c.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)
5g.128261928_128261929insACAATACTCA2675111533FBN2c.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
5g.128261929T>CCA1581234900FBN2c.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
5g.128261929T=CA1581234899FBN2c.8193-22A= (n.8193-22A=)
c.8190-22A= (n.8190-22A=)
c.8040-22A= (n.8040-22A=)
5g.128261931_128261933delCA3393880FBN2c.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
5g.128261933delCA2578395602FBN2c.8193-25del (n.8193-25del)
c.8190-25del (n.8190-25del)
c.8040-25del (n.8040-25del)
5g.128261933T>ACA2675111534FBN2c.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
5g.128261933T>CCA2675111535FBN2c.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
5g.128261933T>GCA650270116FBN2c.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
5g.128261933T=CA1581234901FBN2c.8193-26A= (n.8193-26A=)
c.8190-26A= (n.8190-26A=)
c.8040-26A= (n.8040-26A=)
5g.128261934dupCA563056286FBN2c.8193-27dup (n.8193-27dup)
c.8190-27dup (n.8190-27dup)
c.8040-27dup (n.8040-27dup)
 dbSNP gnomAD v2 gnomAD v4
5g.128261935G>ACA2675111536FBN2c.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
5g.128261935G>CCA2768332976FBN2c.8193-28C>G (n.8193-28C>G)
c.8190-28C>G (n.8190-28C>G)
c.8040-28C>G (n.8040-28C>G)
5g.128261935G>TCA2675111537FBN2c.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
5g.128261939_128261946delCA2675111538FBN2c.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
5g.128261937C>ACA563056287FBN2c.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
5g.128261937C=CA1581234902FBN2c.8193-30G= (n.8193-30G=)
c.8190-30G= (n.8190-30G=)
c.8040-30G= (n.8040-30G=)
5g.128261938T>CCA3393881FBN2c.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
5g.128261938T>GCA2675111539FBN2c.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
5g.128261938T=CA1581234903FBN2c.8193-31A= (n.8193-31A=)
c.8190-31A= (n.8190-31A=)
c.8040-31A= (n.8040-31A=)
5g.128261940T>CCA1581234905FBN2c.8193-33A>G (n.8193-33A>G)
c.8190-33A>G (n.8190-33A>G)
c.8040-33A>G (n.8040-33A>G)
 dbSNP
5g.128261940T=CA1581234904FBN2c.8193-33A= (n.8193-33A=)
c.8190-33A= (n.8190-33A=)
c.8040-33A= (n.8040-33A=)
5g.128261941A>CCA2675111540FBN2c.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
5g.128261942T>ACA3393882FBN2c.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
5g.128261942T>CCA2578395603FBN2c.8193-35A>G (n.8193-35A>G)
c.8190-35A>G (n.8190-35A>G)
c.8040-35A>G (n.8040-35A>G)
5g.128261942T=CA1581234906FBN2c.8193-35A= (n.8193-35A=)
c.8190-35A= (n.8190-35A=)
c.8040-35A= (n.8040-35A=)
5g.128261943C=CA1581234907FBN2c.8193-36G= (n.8193-36G=)
c.8190-36G= (n.8190-36G=)
c.8040-36G= (n.8040-36G=)
5g.128261943C>TCA3393883FBN2c.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
5g.128261944A>CCA2675111541FBN2c.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
5g.128261945C>GCA2675111542FBN2c.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
5g.128261945C>TCA2675111543FBN2c.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
5g.128261946T>CCA3393884FBN2c.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
5g.128261946T>GCA563056288FBN2c.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
5g.128261946T=CA1581234908FBN2c.8193-39A= (n.8193-39A=)
c.8190-39A= (n.8190-39A=)
c.8040-39A= (n.8040-39A=)
5g.128261947G>TCA650270131FBN2c.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
5g.128261948A>GCA2675111544FBN2c.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
5g.128261949C>TCA2675111545FBN2c.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
5g.128261951T>CCA563056289FBN2c.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
5g.128261951T>GCA2578395604FBN2c.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
5g.128261951T=CA1581234909FBN2c.8193-44A= (n.8193-44A=)
c.8190-44A= (n.8190-44A=)
c.8040-44A= (n.8040-44A=)
5g.128261952G>ACA2578395605FBN2c.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
5g.128261952G>TCA2578395606FBN2c.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
5g.128261954C>GCA2768332981FBN2c.8193-47G>C (n.8193-47G>C)
c.8190-47G>C (n.8190-47G>C)
c.8040-47G>C (n.8040-47G>C)
5g.128261955delCA2578395607FBN2c.8193-47del (n.8193-47del)
c.8190-47del (n.8190-47del)
c.8040-47del (n.8040-47del)
 gnomAD v4
5g.128261957T>CCA3393885FBN2c.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
5g.128261957T=CA1581234910FBN2c.8193-50A= (n.8193-50A=)
c.8190-50A= (n.8190-50A=)
c.8040-50A= (n.8040-50A=)
5g.128261958A=CA1581234911FBN2c.8193-51T= (n.8193-51T=)
c.8190-51T= (n.8190-51T=)
c.8040-51T= (n.8040-51T=)
5g.128261958A>CCA2578395608FBN2c.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
5g.128261958A>GCA563056290FBN2c.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
5g.128261959G>TCA2675111546FBN2c.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
5g.128261960T>CCA2578395610FBN2c.8193-53A>G (n.8193-53A>G)
c.8190-53A>G (n.8190-53A>G)
c.8040-53A>G (n.8040-53A>G)
 gnomAD v4
5g.128261960T>GCA2675111547FBN2c.8193-53A>C (n.8193-53A>C)
c.8190-53A>C (n.8190-53A>C)
c.8040-53A>C (n.8040-53A>C)
 gnomAD v4

Number of alleles fetched