Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.48463982C>ACA015529FBN1c.4982G>T (p.Gly1661Val)
n.3656G>T
c.*745G>T (n.*745G>T)
c.289G>T
 dbSNP
15g.48463982C=CA2175516203FBN1c.4982G= (p.Gly1661=)
n.3656G=
c.*745G= (n.*745G=)
c.289G=
15g.48463982C>GCA392350250FBN1c.4982G>C (p.Gly1661Ala)
n.3656G>C
c.*745G>C (n.*745G>C)
c.289G>C
15g.48463982C>TCA392350255FBN1c.4982G>A (p.Gly1661Glu)
n.3656G>A
c.*745G>A (n.*745G>A)
c.289G>A
15g.48463983C>ACA392350263FBN1c.4981G>T (p.Gly1661Trp)
n.3655G>T
c.*744G>T (n.*744G>T)
c.288G>T
15g.48463983C=CA2175516204FBN1c.4981G= (p.Gly1661=)
n.3655G=
c.*744G= (n.*744G=)
c.288G=
15g.48463983C>GCA392350266FBN1c.4981G>C (p.Gly1661Arg)
n.3655G>C
c.*744G>C (n.*744G>C)
c.288G>C
 ClinVar dbSNP
15g.48463983C>TCA392350271FBN1c.4981G>A (p.Gly1661Arg)
n.3655G>A
c.*744G>A (n.*744G>A)
c.288G>A
 ClinVar dbSNP
15g.48463984T>ACA490026112FBN1c.4980A>T (p.Pro1660=)
n.3654A>T
c.*743A>T (n.*743A>T)
c.287A>T
15g.48463984T>CCA054105FBN1c.4980A>G (p.Pro1660=)
n.3654A>G
c.*743A>G (n.*743A>G)
c.287A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48463984T>GCA490026110FBN1c.4980A>C (p.Pro1660=)
n.3654A>C
c.*743A>C (n.*743A>C)
c.287A>C
15g.48463984T=CA2175516206FBN1c.4980A= (p.Pro1660=)
n.3654A=
c.*743A= (n.*743A=)
c.287A=
15g.48463985G>ACA392350276FBN1c.4979C>T (p.Pro1660Leu)
n.3653C>T
c.*742C>T (n.*742C>T)
c.286C>T
 gnomAD v4
15g.48463985G>CCA392350275FBN1c.4979C>G (p.Pro1660Arg)
n.3653C>G
c.*742C>G (n.*742C>G)
c.286C>G
15g.48463985G>TCA392350274FBN1c.4979C>A (p.Pro1660Gln)
n.3653C>A
c.*742C>A (n.*742C>A)
c.286C>A
15g.48463986G>ACA392350279FBN1c.4978C>T (p.Pro1660Ser)
n.3652C>T
c.*741C>T (n.*741C>T)
c.285C>T
15g.48463986G>CCA392350281FBN1c.4978C>G (p.Pro1660Ala)
n.3652C>G
c.*741C>G (n.*741C>G)
c.285C>G
 gnomAD v4
15g.48463986G>TCA392350280FBN1c.4978C>A (p.Pro1660Thr)
n.3652C>A
c.*741C>A (n.*741C>A)
c.285C>A
15g.48463987delCA2695220540FBN1c.4977del (p.Pro1660GlnfsTer22)
n.3651del
c.*740del (n.*740del)
c.284del
15g.48463987A>CCA490026119FBN1c.4977T>G (p.Gly1659=)
n.3651T>G
c.*740T>G (n.*740T>G)
c.284T>G
15g.48463987A>GCA490026121FBN1c.4977T>C (p.Gly1659=)
n.3651T>C
c.*740T>C (n.*740T>C)
c.284T>C
15g.48463987A>TCA490026122FBN1c.4977T>A (p.Gly1659=)
n.3651T>A
c.*740T>A (n.*740T>A)
c.284T>A
15g.48463988C>ACA392350286FBN1c.4976G>T (p.Gly1659Val)
n.3650G>T
c.*739G>T (n.*739G>T)
c.283G>T
15g.48463988C>GCA392350291FBN1c.4976G>C (p.Gly1659Ala)
n.3650G>C
c.*739G>C (n.*739G>C)
c.283G>C
15g.48463988C>TCA392350294FBN1c.4976G>A (p.Gly1659Asp)
n.3650G>A
c.*739G>A (n.*739G>A)
c.283G>A
15g.48463989delCA2695220541FBN1c.4976del (p.Gly1659ValfsTer23)
n.3650del
c.*739del (n.*739del)
c.283del
15g.48463988_48463990delinsCCACA2175516208FBN1c.4974_4976delinsTGG (p.Cys1658=)
n.3648_3650delinsTGG
c.*737_*739delinsTGG (n.*737_*739delinsTGG)
c.281_283delinsTGG
15g.48463989C>ACA392350301FBN1c.4975G>T (p.Gly1659Cys)
n.3649G>T
c.*738G>T (n.*738G>T)
c.282G>T
15g.48463989C>GCA392350306FBN1c.4975G>C (p.Gly1659Arg)
n.3649G>C
c.*738G>C (n.*738G>C)
c.282G>C
15g.48463989C>TCA392350312FBN1c.4975G>A (p.Gly1659Ser)
n.3649G>A
c.*738G>A (n.*738G>A)
c.282G>A
15g.48463991_48463992delCA658824310FBN1c.4974_4975del (p.Cys1658TrpfsTer28)
n.3648_3649del
c.*737_*738del (n.*737_*738del)
c.281_282del
 ClinVar dbSNP
15g.48463990A>CCA392350317FBN1c.4974T>G (p.Cys1658Trp)
n.3648T>G
c.*737T>G (n.*737T>G)
c.281T>G
15g.48463990A>GCA490026133FBN1c.4974T>C (p.Cys1658=)
n.3648T>C
c.*737T>C (n.*737T>C)
c.281T>C
15g.48463990A>TCA392350324FBN1c.4974T>A (p.Cys1658Ter)
n.3648T>A
c.*737T>A (n.*737T>A)
c.281T>A
15g.48463991delCA2695220542FBN1c.4973del (p.Cys1658LeufsTer24)
n.3647del
c.*736del (n.*736del)
c.280del
15g.48463991C>ACA392350328FBN1c.4973G>T (p.Cys1658Phe)
n.3647G>T
c.*736G>T (n.*736G>T)
c.280G>T
15g.48463991C=CA2175516211FBN1c.4973G= (p.Cys1658=)
n.3647G=
c.*736G= (n.*736G=)
c.280G=
15g.48463991C>GCA392350331FBN1c.4973G>C (p.Cys1658Ser)
n.3647G>C
c.*736G>C (n.*736G>C)
c.280G>C
15g.48463991C>TCA392350335FBN1c.4973G>A (p.Cys1658Tyr)
n.3647G>A
c.*736G>A (n.*736G>A)
c.280G>A
 ClinVar dbSNP
15g.48463992A>CCA392350345FBN1c.4972T>G (p.Cys1658Gly)
n.3646T>G
c.*735T>G (n.*735T>G)
c.279T>G
15g.48463992A>GCA392350340FBN1c.4972T>C (p.Cys1658Arg)
n.3646T>C
c.*735T>C (n.*735T>C)
c.279T>C
15g.48463992A>TCA392350343FBN1c.4972T>A (p.Cys1658Ser)
n.3646T>A
c.*735T>A (n.*735T>A)
c.279T>A
15g.48463993_48463994delCA2573150768FBN1c.4971_4972del (p.Ile1657MetfsTer29)
n.3645_3646del
c.*734_*735del (n.*734_*735del)
c.278_279del
 ClinVar dbSNP
15g.48463993G>ACA490026142FBN1c.4971C>T (p.Ile1657=)
n.3645C>T
c.*734C>T (n.*734C>T)
c.278C>T
15g.48463993G>CCA392350348FBN1c.4971C>G (p.Ile1657Met)
n.3645C>G
c.*734C>G (n.*734C>G)
c.278C>G
15g.48463993G=CA2175516213FBN1c.4971C= (p.Ile1657=)
n.3645C=
c.*734C= (n.*734C=)
c.278C=
15g.48463993G>TCA490026145FBN1c.4971C>A (p.Ile1657=)
n.3645C>A
c.*734C>A (n.*734C>A)
c.278C>A
15g.48463993_48463994insTCA339659FBN1c.4970_4971insA (p.Cys1658LeufsTer29)
n.3644_3645insA
c.*733_*734insA (n.*733_*734insA)
c.277_278insA
 ClinVar dbSNP
15g.48463994A>CCA392350357FBN1c.4970T>G (p.Ile1657Ser)
n.3644T>G
c.*733T>G (n.*733T>G)
c.277T>G
15g.48463994A>GCA392350360FBN1c.4970T>C (p.Ile1657Thr)
n.3644T>C
c.*733T>C (n.*733T>C)
c.277T>C
15g.48463994A>TCA392350368FBN1c.4970T>A (p.Ile1657Asn)
n.3644T>A
c.*733T>A (n.*733T>A)
c.277T>A
15g.48463995T>ACA392350372FBN1c.4969A>T (p.Ile1657Phe)
n.3643A>T
c.*732A>T (n.*732A>T)
c.276A>T
15g.48463995T>CCA392350376FBN1c.4969A>G (p.Ile1657Val)
n.3643A>G
c.*732A>G (n.*732A>G)
c.276A>G
15g.48463995T>GCA392350380FBN1c.4969A>C (p.Ile1657Leu)
n.3643A>C
c.*732A>C (n.*732A>C)
c.276A>C
15g.48463996dupCA2695220543FBN1c.4969dup (p.Ile1657AsnfsTer30)
n.3643dup
c.*732dup (n.*732dup)
c.276dup
15g.48463996T>ACA490026157FBN1c.4968A>T (p.Gly1656=)
n.3642A>T
c.*731A>T (n.*731A>T)
c.275A>T
15g.48463996T>CCA490026159FBN1c.4968A>G (p.Gly1656=)
n.3642A>G
c.*731A>G (n.*731A>G)
c.275A>G
15g.48463996T>GCA490026161FBN1c.4968A>C (p.Gly1656=)
n.3642A>C
c.*731A>C (n.*731A>C)
c.275A>C
15g.48463997C>ACA392350382FBN1c.4967G>T (p.Gly1656Val)
n.3641G>T
c.*730G>T (n.*730G>T)
c.274G>T
 ClinVar dbSNP
15g.48463997C=CA2175516214FBN1c.4967G= (p.Gly1656=)
n.3641G=
c.*730G= (n.*730G=)
c.274G=
15g.48463997C>GCA392350386FBN1c.4967G>C (p.Gly1656Ala)
n.3641G>C
c.*730G>C (n.*730G>C)
c.274G>C
15g.48463997C>TCA392350389FBN1c.4967G>A (p.Gly1656Glu)
n.3641G>A
c.*730G>A (n.*730G>A)
c.274G>A
15g.48463998C>ACA392350400FBN1c.4966G>T (p.Gly1656Ter)
n.3640G>T
c.*729G>T (n.*729G>T)
c.273G>T
15g.48463998C>GCA392350403FBN1c.4966G>C (p.Gly1656Arg)
n.3640G>C
c.*729G>C (n.*729G>C)
c.273G>C
15g.48463998C>TCA392350396FBN1c.4966G>A (p.Gly1656Arg)
n.3640G>A
c.*729G>A (n.*729G>A)
c.273G>A
 gnomAD v4
15g.48463998_48463999delinsCACA2175516215FBN1c.4965_4966delinsTG (p.Pro1655=)
n.3639_3640delinsTG
c.*728_*729delinsTG (n.*728_*729delinsTG)
c.272_273delinsTG
15g.48463999delCA658798329FBN1c.4965del (p.Gly1656GlufsTer26)
n.3639del
c.*728del (n.*728del)
c.272del
 ClinVar dbSNP
15g.48463999A=CA2175516217FBN1c.4965T= (p.Pro1655=)
n.3639T=
c.*728T= (n.*728T=)
c.272T=
15g.48463999A>CCA490026162FBN1c.4965T>G (p.Pro1655=)
n.3639T>G
c.*728T>G (n.*728T>G)
c.272T>G
15g.48463999A>GCA054097FBN1c.4965T>C (p.Pro1655=)
n.3639T>C
c.*728T>C (n.*728T>C)
c.272T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48463999A>TCA490026163FBN1c.4965T>A (p.Pro1655=)
n.3639T>A
c.*728T>A (n.*728T>A)
c.272T>A
15g.48464000G>ACA392350414FBN1c.4964C>T (p.Pro1655Leu)
n.3638C>T
c.*727C>T (n.*727C>T)
c.271C>T
 gnomAD v4
15g.48464000G>CCA392350417FBN1c.4964C>G (p.Pro1655Arg)
n.3638C>G
c.*727C>G (n.*727C>G)
c.271C>G
15g.48464000G>TCA392350418FBN1c.4964C>A (p.Pro1655His)
n.3638C>A
c.*727C>A (n.*727C>A)
c.271C>A
15g.48464001G>ACA054090FBN1c.4963C>T (p.Pro1655Ser)
n.3637C>T
c.*726C>T (n.*726C>T)
c.270C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
15g.48464001G>CCA392350422FBN1c.4963C>G (p.Pro1655Ala)
n.3637C>G
c.*726C>G (n.*726C>G)
c.270C>G
15g.48464001G=CA2175516219FBN1c.4963C= (p.Pro1655=)
n.3637C=
c.*726C= (n.*726C=)
c.270C=
15g.48464001G>TCA392350425FBN1c.4963C>A (p.Pro1655Thr)
n.3637C>A
c.*726C>A (n.*726C>A)
c.270C>A
 gnomAD v4
15g.48464002delCA2695220544FBN1c.4962del (p.Pro1655LeufsTer27)
n.3636del
c.*725del (n.*725del)
c.269del
 ClinVar
15g.48464002A=CA2175516220FBN1c.4962T= (p.Thr1654=)
n.3636T=
c.*725T= (n.*725T=)
c.269T=
15g.48464002A>CCA490026164FBN1c.4962T>G (p.Thr1654=)
n.3636T>G
c.*725T>G (n.*725T>G)
c.269T>G
15g.48464002A>GCA054084FBN1c.4962T>C (p.Thr1654=)
n.3636T>C
c.*725T>C (n.*725T>C)
c.269T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48464002A>TCA490026165FBN1c.4962T>A (p.Thr1654=)
n.3636T>A
c.*725T>A (n.*725T>A)
c.269T>A
15g.48464003G>ACA392350429FBN1c.4961C>T (p.Thr1654Ile)
n.3635C>T
c.*724C>T (n.*724C>T)
c.268C>T
15g.48464003G>CCA392350432FBN1c.4961C>G (p.Thr1654Ser)
n.3635C>G
c.*724C>G (n.*724C>G)
c.268C>G
15g.48464003G>TCA392350435FBN1c.4961C>A (p.Thr1654Asn)
n.3635C>A
c.*724C>A (n.*724C>A)
c.268C>A
15g.48464004T>ACA392350437FBN1c.4960A>T (p.Thr1654Ser)
n.3634A>T
c.*723A>T (n.*723A>T)
c.267A>T
15g.48464004T>CCA392350440FBN1c.4960A>G (p.Thr1654Ala)
n.3634A>G
c.*723A>G (n.*723A>G)
c.267A>G
15g.48464004T>GCA392350442FBN1c.4960A>C (p.Thr1654Pro)
n.3634A>C
c.*723A>C (n.*723A>C)
c.267A>C
15g.48464005C>ACA392350449FBN1c.4959G>T (p.Glu1653Asp)
n.3633G>T
c.*722G>T (n.*722G>T)
c.266G>T
15g.48464005C=CA2175516222FBN1c.4959G= (p.Glu1653=)
n.3633G=
c.*722G= (n.*722G=)
c.266G=
15g.48464005C>GCA392350451FBN1c.4959G>C (p.Glu1653Asp)
n.3633G>C
c.*722G>C (n.*722G>C)
c.266G>C
15g.48464005C>TCA490026167FBN1c.4959G>A (p.Glu1653=)
n.3633G>A
c.*722G>A (n.*722G>A)
c.266G>A
 dbSNP
15g.48464006T>ACA392350454FBN1c.4958A>T (p.Glu1653Val)
n.3632A>T
c.*721A>T (n.*721A>T)
c.265A>T
15g.48464006T>CCA392350456FBN1c.4958A>G (p.Glu1653Gly)
n.3632A>G
c.*721A>G (n.*721A>G)
c.265A>G
15g.48464006T>GCA054074FBN1c.4958A>C (p.Glu1653Ala)
n.3632A>C
c.*721A>C (n.*721A>C)
c.265A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48464006T=CA2175516223FBN1c.4958A= (p.Glu1653=)
n.3632A=
c.*721A= (n.*721A=)
c.265A=
15g.48464007C>ACA392350461FBN1c.4957G>T (p.Glu1653Ter)
n.3631G>T
c.*720G>T (n.*720G>T)
c.264G>T
15g.48464007C>GCA392350462FBN1c.4957G>C (p.Glu1653Gln)
n.3631G>C
c.*720G>C (n.*720G>C)
c.264G>C
 COSMIC
15g.48464007C>TCA392350464FBN1c.4957G>A (p.Glu1653Lys)
n.3631G>A
c.*720G>A (n.*720G>A)
c.264G>A
15g.48464007_48464008delinsCACA2175516224FBN1c.4956_4957delinsTG (p.Cys1652=)
n.3630_3631delinsTG
c.*719_*720delinsTG (n.*719_*720delinsTG)
c.263_264delinsTG
15g.48464008delCA10587819FBN1c.4956del (p.Cys1652TrpfsTer30)
n.3630del
c.*719del (n.*719del)
c.263del
 ClinVar dbSNP
15g.48464008A>CCA392350468FBN1c.4956T>G (p.Cys1652Trp)
n.3630T>G
c.*719T>G (n.*719T>G)
c.263T>G
 gnomAD v4
15g.48464008A>GCA490026168FBN1c.4956T>C (p.Cys1652=)
n.3630T>C
c.*719T>C (n.*719T>C)
c.263T>C
 dbSNP
15g.48464008A>TCA392350470FBN1c.4956T>A (p.Cys1652Ter)
n.3630T>A
c.*719T>A (n.*719T>A)
c.263T>A
15g.48464009C>ACA392350475FBN1c.4955G>T (p.Cys1652Phe)
n.3629G>T
c.*718G>T (n.*718G>T)
c.262G>T
15g.48464009C=CA2175516227FBN1c.4955G= (p.Cys1652=)
n.3629G=
c.*718G= (n.*718G=)
c.262G=
15g.48464009C>GCA392350478FBN1c.4955G>C (p.Cys1652Ser)
n.3629G>C
c.*718G>C (n.*718G>C)
c.262G>C
 ClinVar
15g.48464009C>TCA015509FBN1c.4955G>A (p.Cys1652Tyr)
n.3629G>A
c.*718G>A (n.*718G>A)
c.262G>A
 ClinVar dbSNP
15g.48464015_48464018delCA2695220545FBN1c.4952_4955del (p.Glu1651ValfsTer30)
n.3626_3629del
c.*715_*718del (n.*715_*718del)
c.259_262del
15g.48464010A=CA2175516229FBN1c.4954T= (p.Cys1652=)
n.3628T=
c.*717T= (n.*717T=)
c.261T=
15g.48464010A>CCA392350484FBN1c.4954T>G (p.Cys1652Gly)
n.3628T>G
c.*717T>G (n.*717T>G)
c.261T>G
15g.48464010A>GCA392350492FBN1c.4954T>C (p.Cys1652Arg)
n.3628T>C
c.*717T>C (n.*717T>C)
c.261T>C
 ClinVar dbSNP
15g.48464010A>TCA392350490FBN1c.4954T>A (p.Cys1652Ser)
n.3628T>A
c.*717T>A (n.*717T>A)
c.261T>A
15g.48464011T>ACA392350496FBN1c.4953A>T (p.Glu1651Asp)
n.3627A>T
c.*716A>T (n.*716A>T)
c.260A>T
15g.48464011T>CCA490026169FBN1c.4953A>G (p.Glu1651=)
n.3627A>G
c.*716A>G (n.*716A>G)
c.260A>G
15g.48464011T>GCA392350498FBN1c.4953A>C (p.Glu1651Asp)
n.3627A>C
c.*716A>C (n.*716A>C)
c.260A>C
15g.48464012T>ACA392350504FBN1c.4952A>T (p.Glu1651Val)
n.3626A>T
c.*715A>T (n.*715A>T)
c.259A>T
15g.48464012T>CCA392350513FBN1c.4952A>G (p.Glu1651Gly)
n.3626A>G
c.*715A>G (n.*715A>G)
c.259A>G
15g.48464012T>GCA392350509FBN1c.4952A>C (p.Glu1651Ala)
n.3626A>C
c.*715A>C (n.*715A>C)
c.259A>C
15g.48464013C>ACA392350521FBN1c.4951G>T (p.Glu1651Ter)
n.3625G>T
c.*714G>T (n.*714G>T)
c.258G>T
15g.48464013C=CA2175516230FBN1c.4951G= (p.Glu1651=)
n.3625G=
c.*714G= (n.*714G=)
c.258G=
15g.48464013C>GCA392350529FBN1c.4951G>C (p.Glu1651Gln)
n.3625G>C
c.*714G>C (n.*714G>C)
c.258G>C
15g.48464013C>TCA10587828FBN1c.4951G>A (p.Glu1651Lys)
n.3625G>A
c.*714G>A (n.*714G>A)
c.258G>A
 ClinVar dbSNP
15g.48464014A>CCA392350531FBN1c.4950T>G (p.Asn1650Lys)
n.3624T>G
c.*713T>G (n.*713T>G)
c.257T>G
15g.48464014A>GCA490026170FBN1c.4950T>C (p.Asn1650=)
n.3624T>C
c.*713T>C (n.*713T>C)
c.257T>C
 gnomAD v4
15g.48464014A>TCA392350532FBN1c.4950T>A (p.Asn1650Lys)
n.3624T>A
c.*713T>A (n.*713T>A)
c.257T>A
15g.48464015T>ACA392350535FBN1c.4949A>T (p.Asn1650Ile)
n.3623A>T
c.*712A>T (n.*712A>T)
c.256A>T
 COSMIC
15g.48464015T>CCA392350537FBN1c.4949A>G (p.Asn1650Ser)
n.3623A>G
c.*712A>G (n.*712A>G)
c.256A>G
 dbSNP gnomAD v2 gnomAD v4
15g.48464015T>GCA392350540FBN1c.4949A>C (p.Asn1650Thr)
n.3623A>C
c.*712A>C (n.*712A>C)
c.256A>C
15g.48464015T=CA2175516232FBN1c.4949A= (p.Asn1650=)
n.3623A=
c.*712A= (n.*712A=)
c.256A=
15g.48464016T>ACA392350543FBN1c.4948A>T (p.Asn1650Tyr)
n.3622A>T
c.*711A>T (n.*711A>T)
c.255A>T
15g.48464016T>CCA392350546FBN1c.4948A>G (p.Asn1650Asp)
n.3622A>G
c.*711A>G (n.*711A>G)
c.255A>G
15g.48464016T>GCA392350547FBN1c.4948A>C (p.Asn1650His)
n.3622A>C
c.*711A>C (n.*711A>C)
c.255A>C
15g.48464017C>ACA490026171FBN1c.4947G>T (p.Val1649=)
n.3621G>T
c.*710G>T (n.*710G>T)
c.254G>T
15g.48464017C>GCA490026175FBN1c.4947G>C (p.Val1649=)
n.3621G>C
c.*710G>C (n.*710G>C)
c.254G>C
15g.48464017C>TCA490026173FBN1c.4947G>A (p.Val1649=)
n.3621G>A
c.*710G>A (n.*710G>A)
c.254G>A
15g.48464018A>CCA392350551FBN1c.4946T>G (p.Val1649Gly)
n.3620T>G
c.*709T>G (n.*709T>G)
c.253T>G
15g.48464018A>GCA392350552FBN1c.4946T>C (p.Val1649Ala)
n.3620T>C
c.*709T>C (n.*709T>C)
c.253T>C
15g.48464018A>TCA392350554FBN1c.4946T>A (p.Val1649Glu)
n.3620T>A
c.*709T>A (n.*709T>A)
c.253T>A
15g.48464019C>ACA392350563FBN1c.4945G>T (p.Val1649Leu)
n.3619G>T
c.*708G>T (n.*708G>T)
c.252G>T
15g.48464019C>GCA392350561FBN1c.4945G>C (p.Val1649Leu)
n.3619G>C
c.*708G>C (n.*708G>C)
c.252G>C
15g.48464019C>TCA392350559FBN1c.4945G>A (p.Val1649Met)
n.3619G>A
c.*708G>A (n.*708G>A)
c.252G>A
15g.48464020A>CCA392350567FBN1c.4944T>G (p.Asp1648Glu)
n.3618T>G
c.*707T>G (n.*707T>G)
c.251T>G
15g.48464020A>GCA490026177FBN1c.4944T>C (p.Asp1648=)
n.3618T>C
c.*707T>C (n.*707T>C)
c.251T>C
15g.48464020A>TCA392350571FBN1c.4944T>A (p.Asp1648Glu)
n.3618T>A
c.*707T>A (n.*707T>A)
c.251T>A
15g.48464021T>ACA392350582FBN1c.4943A>T (p.Asp1648Val)
n.3617A>T
c.*706A>T (n.*706A>T)
c.250A>T
15g.48464021T>CCA392350585FBN1c.4943A>G (p.Asp1648Gly)
n.3617A>G
c.*706A>G (n.*706A>G)
c.250A>G
 ClinVar
15g.48464021T>GCA392350587FBN1c.4943A>C (p.Asp1648Ala)
n.3617A>C
c.*706A>C (n.*706A>C)
c.250A>C
15g.48464022C>ACA392350589FBN1c.4943-1G>T (n.4943-1G>T)
n.3617-1G>T
c.*706-1G>T (n.*706-1G>T)
c.250-1G>T
15g.48464022C=CA2175516233FBN1c.4943-1G= (n.4943-1G=)
n.3617-1G=
c.*706-1G= (n.*706-1G=)
c.250-1G=
15g.48464022C>GCA392350592FBN1c.4943-1G>C (n.4943-1G>C)
n.3617-1G>C
c.*706-1G>C (n.*706-1G>C)
c.250-1G>C
 ClinVar dbSNP
15g.48464022C>TCA392350601FBN1c.4943-1G>A (n.4943-1G>A)
n.3617-1G>A
c.*706-1G>A (n.*706-1G>A)
c.250-1G>A
 ClinVar dbSNP
15g.48464022_48464023insATCACACACTCGTGCA2628332895FBN1c.4943-2_4943-1insCACGAGTGTGTGAT (n.4943-2_4943-1insCACGAGTGTGTGAT)
n.3617-2_3617-1insCACGAGTGTGTGAT
c.*706-2_*706-1insCACGAGTGTGTGAT (n.*706-2_*706-1insCACGAGTGTGTGAT)
c.250-2_250-1insCACGAGTGTGTGAT
 gnomAD v4
15g.48464022_48464023insATCACACACTCGTGTATCTTCATTCAGGTAGTAGCCGGCA2628332893FBN1c.4943-2_4943-1insCCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT (n.4943-2_4943-1insCCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT)
n.3617-2_3617-1insCCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT
c.*706-2_*706-1insCCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT (n.*706-2_*706-1insCCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT)
c.250-2_250-1insCCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT
 gnomAD v4
15g.48464022_48464023insATCACACACTCGTGTATCTTCATTCAGGTAGTAGCCGGTCA2628332894FBN1c.4943-2_4943-1insACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT (n.4943-2_4943-1insACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT)
n.3617-2_3617-1insACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT
c.*706-2_*706-1insACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT (n.*706-2_*706-1insACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT)
c.250-2_250-1insACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT
 gnomAD v4
15g.48464022_48464023insATCACACACTCGTGTATCTTCATTCAGGTAGTAGCCGGTTGGACAGCGGCACTGGAAACTCCCAAAGGTGTTGACA2628332892FBN1c.4943-2_4943-1insTCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT (n.4943-2_4943-1insTCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT)
n.3617-2_3617-1insTCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT
c.*706-2_*706-1insTCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT (n.*706-2_*706-1insTCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT)
c.250-2_250-1insTCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT
 gnomAD v4
15g.48464022_48464023insATCACACACTCGTGTATCTTCATTCAGGTAGTAGCCGGTTGGACAGCGGCACTGGAAACTCCCAAAGGTGTTGATACATTTTCCTCCTCA2628332891FBN1c.4943-2_4943-1insAGGAGGAAAATGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT (n.4943-2_4943-1insAGGAGGAAAATGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT)
n.3617-2_3617-1insAGGAGGAAAATGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT
c.*706-2_*706-1insAGGAGGAAAATGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT (n.*706-2_*706-1insAGGAGGAAAATGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT)
c.250-2_250-1insAGGAGGAAAATGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGAT
 gnomAD v4
15g.48464023T>ACA392350604FBN1c.4943-2A>T (n.4943-2A>T)
n.3617-2A>T
c.*706-2A>T (n.*706-2A>T)
c.250-2A>T
15g.48464023T>CCA392350606FBN1c.4943-2A>G (n.4943-2A>G)
n.3617-2A>G
c.*706-2A>G (n.*706-2A>G)
c.250-2A>G
 ClinVar dbSNP gnomAD v4
15g.48464023T>GCA392350609FBN1c.4943-2A>C (n.4943-2A>C)
n.3617-2A>C
c.*706-2A>C (n.*706-2A>C)
c.250-2A>C
15g.48464024A=CA2175516234FBN1c.4943-3T= (n.4943-3T=)
n.3617-3T=
c.*706-3T= (n.*706-3T=)
c.250-3T=
15g.48464024A>GCA054065FBN1c.4943-3T>C (n.4943-3T>C)
n.3617-3T>C
c.*706-3T>C (n.*706-3T>C)
c.250-3T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48464025T>CCA658656470FBN1c.4943-4A>G (n.4943-4A>G)
n.3617-4A>G
c.*706-4A>G (n.*706-4A>G)
c.250-4A>G
 ClinVar dbSNP gnomAD v4
15g.48464025T>GCA2563923518FBN1c.4943-4A>C (n.4943-4A>C)
n.3617-4A>C
c.*706-4A>C (n.*706-4A>C)
c.250-4A>C
15g.48464025T=CA2175516236FBN1c.4943-4A= (n.4943-4A=)
n.3617-4A=
c.*706-4A= (n.*706-4A=)
c.250-4A=
15g.48464025_48464026insCTTCATTCAGGTAGTAGCCGGTTGGACAGCGGCACTGGAAACTCCCAAAGGTGTTGATACCA2628332912FBN1c.4943-5_4943-4insGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAG (n.4943-5_4943-4insGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAG)
n.3617-5_3617-4insGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAG
c.*706-5_*706-4insGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAG (n.*706-5_*706-4insGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAG)
c.250-5_250-4insGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAG
 gnomAD v4
15g.48464028T>CCA2504344728FBN1c.4943-7A>G (n.4943-7A>G)
n.3617-7A>G
c.*706-7A>G (n.*706-7A>G)
c.250-7A>G
15g.48464029C>ACA2628332914FBN1c.4943-8G>T (n.4943-8G>T)
n.3617-8G>T
c.*706-8G>T (n.*706-8G>T)
c.250-8G>T
 gnomAD v4
15g.48464031A>GCA2549674002FBN1c.4943-10T>C (n.4943-10T>C)
n.3617-10T>C
c.*706-10T>C (n.*706-10T>C)
c.250-10T>C
15g.48464033A=CA2175516238FBN1c.4943-12T= (n.4943-12T=)
n.3617-12T=
c.*706-12T= (n.*706-12T=)
c.250-12T=
15g.48464033A>GCA269548366FBN1c.4943-12T>C (n.4943-12T>C)
n.3617-12T>C
c.*706-12T>C (n.*706-12T>C)
c.250-12T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48464034G>ACA2740096583FBN1c.4943-13C>T (n.4943-13C>T)
n.3617-13C>T
c.*706-13C>T (n.*706-13C>T)
c.250-13C>T
 ClinVar
15g.48464034G>CCA2628332917FBN1c.4943-13C>G (n.4943-13C>G)
n.3617-13C>G
c.*706-13C>G (n.*706-13C>G)
c.250-13C>G
 gnomAD v4
15g.48464034G>TCA2628332918FBN1c.4943-13C>A (n.4943-13C>A)
n.3617-13C>A
c.*706-13C>A (n.*706-13C>A)
c.250-13C>A
 gnomAD v4
15g.48464035A=CA2175516239FBN1c.4943-14T= (n.4943-14T=)
n.3617-14T=
c.*706-14T= (n.*706-14T=)
c.250-14T=
15g.48464035A>GCA054018FBN1c.4943-14T>C (n.4943-14T>C)
n.3617-14T>C
c.*706-14T>C (n.*706-14T>C)
c.250-14T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48464036G>ACA2628332924FBN1c.4943-15C>T (n.4943-15C>T)
n.3617-15C>T
c.*706-15C>T (n.*706-15C>T)
c.250-15C>T
 gnomAD v4
15g.48464036G>TCA2740096584FBN1c.4943-15C>A (n.4943-15C>A)
n.3617-15C>A
c.*706-15C>A (n.*706-15C>A)
c.250-15C>A
 ClinVar
15g.48464039A=CA2175516241FBN1c.4943-18T= (n.4943-18T=)
n.3617-18T=
c.*706-18T= (n.*706-18T=)
c.250-18T=
15g.48464039A>GCA7547916FBN1c.4943-18T>C (n.4943-18T>C)
n.3617-18T>C
c.*706-18T>C (n.*706-18T>C)
c.250-18T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48464039_48464046delinsAGTGGTATCA2175516240FBN1c.4943-25_4943-18delinsATACCACT (n.4943-25_4943-18delinsATACCACT)
n.3617-25_3617-18delinsATACCACT
c.*706-25_*706-18delinsATACCACT (n.*706-25_*706-18delinsATACCACT)
c.250-25_250-18delinsATACCACT
15g.48464043_48464049delCA7547917FBN1c.4943-25_4943-19del (n.4943-25_4943-19del)
n.3617-25_3617-19del
c.*706-25_*706-19del (n.*706-25_*706-19del)
c.250-25_250-19del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48464042G>ACA054024FBN1c.4943-21C>T (n.4943-21C>T)
n.3617-21C>T
c.*706-21C>T (n.*706-21C>T)
c.250-21C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48464042G=CA2175516243FBN1c.4943-21C= (n.4943-21C=)
n.3617-21C=
c.*706-21C= (n.*706-21C=)
c.250-21C=
15g.48464043G>ACA2628332928FBN1c.4943-22C>T (n.4943-22C>T)
n.3617-22C>T
c.*706-22C>T (n.*706-22C>T)
c.250-22C>T
 gnomAD v4
15g.48464043G>CCA2175516245FBN1c.4943-22C>G (n.4943-22C>G)
n.3617-22C>G
c.*706-22C>G (n.*706-22C>G)
c.250-22C>G
 dbSNP gnomAD v4
15g.48464043G=CA2175516244FBN1c.4943-22C= (n.4943-22C=)
n.3617-22C=
c.*706-22C= (n.*706-22C=)
c.250-22C=
15g.48464046T>CCA054056FBN1c.4943-25A>G (n.4943-25A>G)
n.3617-25A>G
c.*706-25A>G (n.*706-25A>G)
c.250-25A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48464046T>GCA054051FBN1c.4943-25A>C (n.4943-25A>C)
n.3617-25A>C
c.*706-25A>C (n.*706-25A>C)
c.250-25A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48464046T=CA2175516247FBN1c.4943-25A= (n.4943-25A=)
n.3617-25A=
c.*706-25A= (n.*706-25A=)
c.250-25A=
15g.48464047G>CCA2628332929FBN1c.4943-26C>G (n.4943-26C>G)
n.3617-26C>G
c.*706-26C>G (n.*706-26C>G)
c.250-26C>G
 gnomAD v4
15g.48464048T>GCA617839938FBN1c.4943-27A>C (n.4943-27A>C)
n.3617-27A>C
c.*706-27A>C (n.*706-27A>C)
c.250-27A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48464048T=CA2175516248FBN1c.4943-27A= (n.4943-27A=)
n.3617-27A=
c.*706-27A= (n.*706-27A=)
c.250-27A=
15g.48464049G>ACA269548392FBN1c.4943-28C>T (n.4943-28C>T)
n.3617-28C>T
c.*706-28C>T (n.*706-28C>T)
c.250-28C>T
 dbSNP
15g.48464049G=CA2175516249FBN1c.4943-28C= (n.4943-28C=)
n.3617-28C=
c.*706-28C= (n.*706-28C=)
c.250-28C=
15g.48464050A=CA2175516250FBN1c.4943-29T= (n.4943-29T=)
n.3617-29T=
c.*706-29T= (n.*706-29T=)
c.250-29T=
15g.48464050A>CCA617839940FBN1c.4943-29T>G (n.4943-29T>G)
n.3617-29T>G
c.*706-29T>G (n.*706-29T>G)
c.250-29T>G
 dbSNP gnomAD v2 gnomAD v4
15g.48464050A>TCA2628332930FBN1c.4943-29T>A (n.4943-29T>A)
n.3617-29T>A
c.*706-29T>A (n.*706-29T>A)
c.250-29T>A
 gnomAD v4
15g.48464051A=CA2175516251FBN1c.4943-30T= (n.4943-30T=)
n.3617-30T=
c.*706-30T= (n.*706-30T=)
c.250-30T=
15g.48464051A>GCA617839941FBN1c.4943-30T>C (n.4943-30T>C)
n.3617-30T>C
c.*706-30T>C (n.*706-30T>C)
c.250-30T>C
 dbSNP gnomAD v2 gnomAD v4
15g.48464052T>CCA969557712FBN1c.4943-31A>G (n.4943-31A>G)
n.3617-31A>G
c.*706-31A>G (n.*706-31A>G)
c.250-31A>G
 dbSNP gnomAD v3 gnomAD v4
15g.48464052T=CA2175516253FBN1c.4943-31A= (n.4943-31A=)
n.3617-31A=
c.*706-31A= (n.*706-31A=)
c.250-31A=
15g.48464054T>CCA969557735FBN1c.4943-33A>G (n.4943-33A>G)
n.3617-33A>G
c.*706-33A>G (n.*706-33A>G)
c.250-33A>G
 dbSNP gnomAD v3 gnomAD v4
15g.48464054T=CA2175516254FBN1c.4943-33A= (n.4943-33A=)
n.3617-33A=
c.*706-33A= (n.*706-33A=)
c.250-33A=
15g.48464057A=CA2175516255FBN1c.4943-36T= (n.4943-36T=)
n.3617-36T=
c.*706-36T= (n.*706-36T=)
c.250-36T=
15g.48464057A>CCA269548397FBN1c.4943-36T>G (n.4943-36T>G)
n.3617-36T>G
c.*706-36T>G (n.*706-36T>G)
c.250-36T>G
 dbSNP gnomAD v3 gnomAD v4
15g.48464057A>GCA054059FBN1c.4943-36T>C (n.4943-36T>C)
n.3617-36T>C
c.*706-36T>C (n.*706-36T>C)
c.250-36T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48464059A>GCA2628332935FBN1c.4943-38T>C (n.4943-38T>C)
n.3617-38T>C
c.*706-38T>C (n.*706-38T>C)
c.250-38T>C
 gnomAD v4
15g.48464061_48464065delCA2628332934FBN1c.4943-42_4943-38del (n.4943-42_4943-38del)
n.3617-42_3617-38del
c.*706-42_*706-38del (n.*706-42_*706-38del)
c.250-42_250-38del
 gnomAD v4
15g.48464061T>ACA2175516258FBN1c.4943-40A>T (n.4943-40A>T)
n.3617-40A>T
c.*706-40A>T (n.*706-40A>T)
c.250-40A>T
 dbSNP
15g.48464061T=CA2175516257FBN1c.4943-40A= (n.4943-40A=)
n.3617-40A=
c.*706-40A= (n.*706-40A=)
c.250-40A=
15g.48464063delCA2628332936FBN1c.4943-42del (n.4943-42del)
n.3617-42del
c.*706-42del (n.*706-42del)
c.250-42del
 gnomAD v4
15g.48464065delCA2628332937FBN1c.4943-44del (n.4943-44del)
n.3617-44del
c.*706-44del (n.*706-44del)
c.250-44del
 gnomAD v4
15g.48464066A=CA2175516259FBN1c.4943-45T= (n.4943-45T=)
n.3617-45T=
c.*706-45T= (n.*706-45T=)
c.250-45T=
15g.48464066A>GCA2575716885FBN1c.4943-45T>C (n.4943-45T>C)
n.3617-45T>C
c.*706-45T>C (n.*706-45T>C)
c.250-45T>C
 gnomAD v4
15g.48464066A>TCA617839943FBN1c.4943-45T>A (n.4943-45T>A)
n.3617-45T>A
c.*706-45T>A (n.*706-45T>A)
c.250-45T>A
 dbSNP gnomAD v2 gnomAD v4
15g.48464069T>CCA2175516261FBN1c.4943-48A>G (n.4943-48A>G)
n.3617-48A>G
c.*706-48A>G (n.*706-48A>G)
c.250-48A>G
 dbSNP
15g.48464069T>GCA054069FBN1c.4943-48A>C (n.4943-48A>C)
n.3617-48A>C
c.*706-48A>C (n.*706-48A>C)
c.250-48A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48464069T=CA2175516260FBN1c.4943-48A= (n.4943-48A=)
n.3617-48A=
c.*706-48A= (n.*706-48A=)
c.250-48A=
15g.48464071G>CCA2804071339FBN1c.4943-50C>G (n.4943-50C>G)
n.3617-50C>G
c.*706-50C>G (n.*706-50C>G)
c.250-50C>G
15g.48464072G>ACA713405979FBN1c.4943-51C>T (n.4943-51C>T)
n.3617-51C>T
c.*706-51C>T (n.*706-51C>T)
c.250-51C>T
 dbSNP gnomAD v3 gnomAD v4
15g.48464072G=CA2175516262FBN1c.4943-51C= (n.4943-51C=)
n.3617-51C=
c.*706-51C= (n.*706-51C=)
c.250-51C=
15g.48464074A>GCA2628332940FBN1c.4943-53T>C (n.4943-53T>C)
n.3617-53T>C
c.*706-53T>C (n.*706-53T>C)
c.250-53T>C
 gnomAD v4
15g.48464075T>ACA656135856FBN1c.4943-54A>T (n.4943-54A>T)
n.3617-54A>T
c.*706-54A>T (n.*706-54A>T)
c.250-54A>T
 COSMIC
15g.48464075T>CCA2175516264FBN1c.4943-54A>G (n.4943-54A>G)
n.3617-54A>G
c.*706-54A>G (n.*706-54A>G)
c.250-54A>G
 dbSNP
15g.48464075T=CA2175516263FBN1c.4943-54A= (n.4943-54A=)
n.3617-54A=
c.*706-54A= (n.*706-54A=)
c.250-54A=
15g.48464076G=CA2175516265FBN1c.4943-55C= (n.4943-55C=)
n.3617-55C=
c.*706-55C= (n.*706-55C=)
c.250-55C=
15g.48464076G>TCA713405981FBN1c.4943-55C>A (n.4943-55C>A)
n.3617-55C>A
c.*706-55C>A (n.*706-55C>A)
c.250-55C>A
 dbSNP gnomAD v3 gnomAD v4
15g.48464077G>TCA2628332942FBN1c.4943-56C>A (n.4943-56C>A)
n.3617-56C>A
c.*706-56C>A (n.*706-56C>A)
c.250-56C>A
 gnomAD v4
15g.48464078C=CA2175516266FBN1c.4943-57G= (n.4943-57G=)
n.3617-57G=
c.*706-57G= (n.*706-57G=)
c.250-57G=
15g.48464078C>GCA2175516267FBN1c.4943-57G>C (n.4943-57G>C)
n.3617-57G>C
c.*706-57G>C (n.*706-57G>C)
c.250-57G>C
 dbSNP gnomAD v4
15g.48464078C>TCA269548415FBN1c.4943-57G>A (n.4943-57G>A)
n.3617-57G>A
c.*706-57G>A (n.*706-57G>A)
c.250-57G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48464079C>ACA2628332945FBN1c.4943-58G>T (n.4943-58G>T)
n.3617-58G>T
c.*706-58G>T (n.*706-58G>T)
c.250-58G>T
 gnomAD v4
15g.48464080T>ACA2628332946FBN1c.4943-59A>T (n.4943-59A>T)
n.3617-59A>T
c.*706-59A>T (n.*706-59A>T)
c.250-59A>T
 gnomAD v4
15g.48464080T>CCA2628332947FBN1c.4943-59A>G (n.4943-59A>G)
n.3617-59A>G
c.*706-59A>G (n.*706-59A>G)
c.250-59A>G
 gnomAD v4
15g.48464081G>ACA2628332948FBN1c.4943-60C>T (n.4943-60C>T)
n.3617-60C>T
c.*706-60C>T (n.*706-60C>T)
c.250-60C>T
 gnomAD v4
15g.48464081G>TCA2628332949FBN1c.4943-60C>A (n.4943-60C>A)
n.3617-60C>A
c.*706-60C>A (n.*706-60C>A)
c.250-60C>A
 gnomAD v4
15g.48464082A=CA2175516269FBN1c.4943-61T= (n.4943-61T=)
n.3617-61T=
c.*706-61T= (n.*706-61T=)
c.250-61T=
15g.48464082A>TCA269548419FBN1c.4943-61T>A (n.4943-61T>A)
n.3617-61T>A
c.*706-61T>A (n.*706-61T>A)
c.250-61T>A
 dbSNP gnomAD v3 gnomAD v4
15g.48464082_48464086delinsATACTCA2175516270FBN1c.4943-65_4943-61delinsAGTAT (n.4943-65_4943-61delinsAGTAT)
n.3617-65_3617-61delinsAGTAT
c.*706-65_*706-61delinsAGTAT (n.*706-65_*706-61delinsAGTAT)
c.250-65_250-61delinsAGTAT

Number of alleles fetched