Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.48467925G>ACA053567FBN1c.4747+13C>T (n.4747+13C>T)
n.3421+13C>T
c.*510+13C>T (n.*510+13C>T)
c.54+13C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48467925G=CA2175518186FBN1c.4747+13C= (n.4747+13C=)
n.3421+13C=
c.*510+13C= (n.*510+13C=)
c.54+13C=
15g.48467925G>TCA2628334069FBN1c.4747+13C>A (n.4747+13C>A)
n.3421+13C>A
c.*510+13C>A (n.*510+13C>A)
c.54+13C>A
 gnomAD v4
15g.48467926A=CA2175518187FBN1c.4747+12T= (n.4747+12T=)
n.3421+12T=
c.*510+12T= (n.*510+12T=)
c.54+12T=
15g.48467926A>GCA053563FBN1c.4747+12T>C (n.4747+12T>C)
n.3421+12T>C
c.*510+12T>C (n.*510+12T>C)
c.54+12T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48467927T>CCA269551600FBN1c.4747+11A>G (n.4747+11A>G)
n.3421+11A>G
c.*510+11A>G (n.*510+11A>G)
c.54+11A>G
 dbSNP gnomAD v4
15g.48467927T=CA2175518188FBN1c.4747+11A= (n.4747+11A=)
n.3421+11A=
c.*510+11A= (n.*510+11A=)
c.54+11A=
15g.48467928G>TCA2575717024FBN1c.4747+10C>A (n.4747+10C>A)
n.3421+10C>A
c.*510+10C>A (n.*510+10C>A)
c.54+10C>A
 gnomAD v4
15g.48467930C=CA2175518189FBN1c.4747+8G= (n.4747+8G=)
n.3421+8G=
c.*510+8G= (n.*510+8G=)
c.54+8G=
15g.48467930C>GCA618009248FBN1c.4747+8G>C (n.4747+8G>C)
n.3421+8G>C
c.*510+8G>C (n.*510+8G>C)
c.54+8G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.48467930C>TCA053593FBN1c.4747+8G>A (n.4747+8G>A)
n.3421+8G>A
c.*510+8G>A (n.*510+8G>A)
c.54+8G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.48467931C=CA2175518190FBN1c.4747+7G= (n.4747+7G=)
n.3421+7G=
c.*510+7G= (n.*510+7G=)
c.54+7G=
15g.48467931C>TCA269551601FBN1c.4747+7G>A (n.4747+7G>A)
n.3421+7G>A
c.*510+7G>A (n.*510+7G>A)
c.54+7G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.48467934_48467947delCA2740096586FBN1c.4741_4747+7del
n.3415_3421+7del
c.*504_*510+7del
c.48_54+7del
 ClinVar
15g.48467931_48467932insTACA2575717031FBN1c.4747+6_4747+7insTA (n.4747+6_4747+7insTA)
n.3421+6_3421+7insTA
c.*510+6_*510+7insTA (n.*510+6_*510+7insTA)
c.54+6_54+7insTA
 gnomAD v4
15g.48467932A>GCA2628334118FBN1c.4747+6T>C (n.4747+6T>C)
n.3421+6T>C
c.*510+6T>C (n.*510+6T>C)
c.54+6T>C
 gnomAD v4
15g.48467933C>ACA658656473FBN1c.4747+5G>T (n.4747+5G>T)
n.3421+5G>T
c.*510+5G>T (n.*510+5G>T)
c.54+5G>T
 ClinVar dbSNP
15g.48467933C=CA2175518191FBN1c.4747+5G= (n.4747+5G=)
n.3421+5G=
c.*510+5G= (n.*510+5G=)
c.54+5G=
15g.48467933C>GCA015404FBN1c.4747+5G>C (n.4747+5G>C)
n.3421+5G>C
c.*510+5G>C (n.*510+5G>C)
c.54+5G>C
 ClinVar dbSNP
15g.48467933C>TCA2573150797FBN1c.4747+5G>A (n.4747+5G>A)
n.3421+5G>A
c.*510+5G>A (n.*510+5G>A)
c.54+5G>A
 ClinVar dbSNP
15g.48467934T>CCA618009249FBN1c.4747+4A>G (n.4747+4A>G)
n.3421+4A>G
c.*510+4A>G (n.*510+4A>G)
c.54+4A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.48467934T=CA2175518192FBN1c.4747+4A= (n.4747+4A=)
n.3421+4A=
c.*510+4A= (n.*510+4A=)
c.54+4A=
15g.48467935T>ACA1139663945FBN1c.4747+3A>T (n.4747+3A>T)
n.3421+3A>T
c.*510+3A>T (n.*510+3A>T)
c.54+3A>T
 ClinVar dbSNP
15g.48467935T>GCA658656474FBN1c.4747+3A>C (n.4747+3A>C)
n.3421+3A>C
c.*510+3A>C (n.*510+3A>C)
c.54+3A>C
 ClinVar dbSNP
15g.48467935T=CA2175518193FBN1c.4747+3A= (n.4747+3A=)
n.3421+3A=
c.*510+3A= (n.*510+3A=)
c.54+3A=
15g.48467936A>CCA392352629FBN1c.4747+2T>G (n.4747+2T>G)
n.3421+2T>G
c.*510+2T>G (n.*510+2T>G)
c.54+2T>G
15g.48467936A>GCA392352631FBN1c.4747+2T>C (n.4747+2T>C)
n.3421+2T>C
c.*510+2T>C (n.*510+2T>C)
c.54+2T>C
15g.48467936A>TCA392352641FBN1c.4747+2T>A (n.4747+2T>A)
n.3421+2T>A
c.*510+2T>A (n.*510+2T>A)
c.54+2T>A
15g.48467936dupCA913188651FBN1c.4747+2dup (n.4747+2dup)
n.3421+2dup
c.*510+2dup (n.*510+2dup)
c.54+2dup
15g.48467937C>ACA392352649FBN1c.4747+1G>T (n.4747+1G>T)
n.3421+1G>T
c.*510+1G>T (n.*510+1G>T)
c.54+1G>T
15g.48467937C>GCA392352651FBN1c.4747+1G>C (n.4747+1G>C)
n.3421+1G>C
c.*510+1G>C (n.*510+1G>C)
c.54+1G>C
15g.48467937C>TCA392352645FBN1c.4747+1G>A (n.4747+1G>A)
n.3421+1G>A
c.*510+1G>A (n.*510+1G>A)
c.54+1G>A
 ClinVar dbSNP
15g.48467938A=CA2175518194FBN1c.4747T= (p.Ser1583=)
n.3421T=
c.*510T= (n.*510T=)
c.54T=
15g.48467938A>CCA269551608FBN1c.4747T>G (p.Ser1583Ala)
n.3421T>G
c.*510T>G (n.*510T>G)
c.54T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.48467938A>GCA392352656FBN1c.4747T>C (p.Ser1583Pro)
n.3421T>C
c.*510T>C (n.*510T>C)
c.54T>C
15g.48467938A>TCA392352661FBN1c.4747T>A (p.Ser1583Thr)
n.3421T>A
c.*510T>A (n.*510T>A)
c.54T>A
15g.48467939T>ACA490027113FBN1c.4746A>T (p.Thr1582=)
n.3420A>T
c.*509A>T (n.*509A>T)
c.53A>T
15g.48467939T>CCA015400FBN1c.4746A>G (p.Thr1582=)
n.3420A>G
c.*509A>G (n.*509A>G)
c.53A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48467939T>GCA490027112FBN1c.4746A>C (p.Thr1582=)
n.3420A>C
c.*509A>C (n.*509A>C)
c.53A>C
15g.48467939T=CA2175518195FBN1c.4746A= (p.Thr1582=)
n.3420A=
c.*509A= (n.*509A=)
c.53A=
15g.48467939_48467940delinsTGCA2175518196FBN1c.4745_4746delinsCA (p.Thr1582=)
n.3419_3420delinsCA
c.*508_*509delinsCA (n.*508_*509delinsCA)
c.52_53delinsCA
15g.48467940delCA1139663946FBN1c.4745del (p.Thr1582AsnfsTer?)
n.3419del
c.*508del (n.*508del)
c.52del
 ClinVar dbSNP
15g.48467940G>ACA392352673FBN1c.4745C>T (p.Thr1582Ile)
n.3419C>T
c.*508C>T (n.*508C>T)
c.52C>T
 ClinVar dbSNP
15g.48467940G>CCA392352672FBN1c.4745C>G (p.Thr1582Arg)
n.3419C>G
c.*508C>G (n.*508C>G)
c.52C>G
15g.48467940G=CA2175518197FBN1c.4745C= (p.Thr1582=)
n.3419C=
c.*508C= (n.*508C=)
c.52C=
15g.48467940G>TCA392352674FBN1c.4745C>A (p.Thr1582Lys)
n.3419C>A
c.*508C>A (n.*508C>A)
c.52C>A
15g.48467941T>ACA269551615FBN1c.4744A>T (p.Thr1582Ser)
n.3418A>T
c.*507A>T (n.*507A>T)
c.51A>T
 ClinVar dbSNP
15g.48467941T>CCA392352679FBN1c.4744A>G (p.Thr1582Ala)
n.3418A>G
c.*507A>G (n.*507A>G)
c.51A>G
 ClinVar
15g.48467941T>GCA392352676FBN1c.4744A>C (p.Thr1582Pro)
n.3418A>C
c.*507A>C (n.*507A>C)
c.51A>C
15g.48467941T=CA2175518198FBN1c.4744A= (p.Thr1582=)
n.3418A=
c.*507A= (n.*507A=)
c.51A=
15g.48467942G>ACA490027114FBN1c.4743C>T (p.Asn1581=)
n.3417C>T
c.*506C>T (n.*506C>T)
c.50C>T
15g.48467942G>CCA392352682FBN1c.4743C>G (p.Asn1581Lys)
n.3417C>G
c.*506C>G (n.*506C>G)
c.50C>G
15g.48467942G>TCA392352685FBN1c.4743C>A (p.Asn1581Lys)
n.3417C>A
c.*506C>A (n.*506C>A)
c.50C>A
15g.48467943T>ACA392352689FBN1c.4742A>T (p.Asn1581Ile)
n.3416A>T
c.*505A>T (n.*505A>T)
c.49A>T
15g.48467943T>CCA392352692FBN1c.4742A>G (p.Asn1581Ser)
n.3416A>G
c.*505A>G (n.*505A>G)
c.49A>G
 ClinVar gnomAD v4
15g.48467943T>GCA392352694FBN1c.4742A>C (p.Asn1581Thr)
n.3416A>C
c.*505A>C (n.*505A>C)
c.49A>C
15g.48467944T>ACA392352708FBN1c.4741A>T (p.Asn1581Tyr)
n.3415A>T
c.*504A>T (n.*504A>T)
c.48A>T
15g.48467944T>CCA392352705FBN1c.4741A>G (p.Asn1581Asp)
n.3415A>G
c.*504A>G (n.*504A>G)
c.48A>G
15g.48467944T>GCA392352698FBN1c.4741A>C (p.Asn1581His)
n.3415A>C
c.*504A>C (n.*504A>C)
c.48A>C
15g.48467945C>ACA490027115FBN1c.4740G>T (p.Val1580=)
n.3414G>T
c.*503G>T (n.*503G>T)
c.47G>T
15g.48467945C>GCA490027117FBN1c.4740G>C (p.Val1580=)
n.3414G>C
c.*503G>C (n.*503G>C)
c.47G>C
15g.48467945C>TCA490027116FBN1c.4740G>A (p.Val1580=)
n.3414G>A
c.*503G>A (n.*503G>A)
c.47G>A
15g.48467946A>CCA392352712FBN1c.4739T>G (p.Val1580Gly)
n.3413T>G
c.*502T>G (n.*502T>G)
c.46T>G
15g.48467946A>GCA392352718FBN1c.4739T>C (p.Val1580Ala)
n.3413T>C
c.*502T>C (n.*502T>C)
c.46T>C
15g.48467946A>TCA392352720FBN1c.4739T>A (p.Val1580Glu)
n.3413T>A
c.*502T>A (n.*502T>A)
c.46T>A
15g.48467947C>ACA392352722FBN1c.4738G>T (p.Val1580Leu)
n.3412G>T
c.*501G>T (n.*501G>T)
c.45G>T
15g.48467947C=CA2175518199FBN1c.4738G= (p.Val1580=)
n.3412G=
c.*501G= (n.*501G=)
c.45G=
15g.48467947C>GCA392352726FBN1c.4738G>C (p.Val1580Leu)
n.3412G>C
c.*501G>C (n.*501G>C)
c.45G>C
15g.48467947C>TCA015392FBN1c.4738G>A (p.Val1580Met)
n.3412G>A
c.*501G>A (n.*501G>A)
c.45G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48467948A>CCA490027118FBN1c.4737T>G (p.Ala1579=)
n.3411T>G
c.*500T>G (n.*500T>G)
c.44T>G
15g.48467948A>GCA490027119FBN1c.4737T>C (p.Ala1579=)
n.3411T>C
c.*500T>C (n.*500T>C)
c.44T>C
15g.48467948A>TCA490027120FBN1c.4737T>A (p.Ala1579=)
n.3411T>A
c.*500T>A (n.*500T>A)
c.44T>A
15g.48467949G>ACA053556FBN1c.4736C>T (p.Ala1579Val)
n.3410C>T
c.*499C>T (n.*499C>T)
c.43C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.48467949G>CCA392352736FBN1c.4736C>G (p.Ala1579Gly)
n.3410C>G
c.*499C>G (n.*499C>G)
c.43C>G
15g.48467949G=CA2175518200FBN1c.4736C= (p.Ala1579=)
n.3410C=
c.*499C= (n.*499C=)
c.43C=
15g.48467949G>TCA392352734FBN1c.4736C>A (p.Ala1579Asp)
n.3410C>A
c.*499C>A (n.*499C>A)
c.43C>A
15g.48467950C>ACA392352740FBN1c.4735G>T (p.Ala1579Ser)
n.3409G>T
c.*498G>T (n.*498G>T)
c.42G>T
15g.48467950C>GCA392352743FBN1c.4735G>C (p.Ala1579Pro)
n.3409G>C
c.*498G>C (n.*498G>C)
c.42G>C
15g.48467950C>TCA392352745FBN1c.4735G>A (p.Ala1579Thr)
n.3409G>A
c.*498G>A (n.*498G>A)
c.42G>A
15g.48467951A=CA2175518201FBN1c.4734T= (p.Pro1578=)
n.3408T=
c.*497T= (n.*497T=)
c.41T=
15g.48467951A>CCA490027121FBN1c.4734T>G (p.Pro1578=)
n.3408T>G
c.*497T>G (n.*497T>G)
c.41T>G
15g.48467951A>GCA490027123FBN1c.4734T>C (p.Pro1578=)
n.3408T>C
c.*497T>C (n.*497T>C)
c.41T>C
15g.48467951A>TCA490027122FBN1c.4734T>A (p.Pro1578=)
n.3408T>A
c.*497T>A (n.*497T>A)
c.41T>A
 dbSNP gnomAD v2 gnomAD v4
15g.48467952G>ACA392352748FBN1c.4733C>T (p.Pro1578Leu)
n.3407C>T
c.*496C>T (n.*496C>T)
c.40C>T
 gnomAD v4 COSMIC
15g.48467952G>CCA392352750FBN1c.4733C>G (p.Pro1578Arg)
n.3407C>G
c.*496C>G (n.*496C>G)
c.40C>G
15g.48467952G>TCA392352753FBN1c.4733C>A (p.Pro1578His)
n.3407C>A
c.*496C>A (n.*496C>A)
c.40C>A
15g.48467953delCA2580089654FBN1c.4733del (p.Pro1578LeufsTer3)
n.3407del
c.*496del (n.*496del)
c.40del
 ClinVar
15g.48467953G>ACA392352756FBN1c.4732C>T (p.Pro1578Ser)
n.3406C>T
c.*495C>T (n.*495C>T)
c.39C>T
15g.48467953G>CCA392352759FBN1c.4732C>G (p.Pro1578Ala)
n.3406C>G
c.*495C>G (n.*495C>G)
c.39C>G
 ClinVar dbSNP
15g.48467953G>TCA392352761FBN1c.4732C>A (p.Pro1578Thr)
n.3406C>A
c.*495C>A (n.*495C>A)
c.39C>A
15g.48467954A>CCA392352763FBN1c.4731T>G (p.Cys1577Trp)
n.3405T>G
c.*494T>G (n.*494T>G)
c.38T>G
15g.48467954A>GCA490027124FBN1c.4731T>C (p.Cys1577=)
n.3405T>C
c.*494T>C (n.*494T>C)
c.38T>C
 ClinVar dbSNP
15g.48467954A>TCA392352765FBN1c.4731T>A (p.Cys1577Ter)
n.3405T>A
c.*494T>A (n.*494T>A)
c.38T>A
 ClinVar dbSNP
15g.48467955_48467958delCA2695220585FBN1c.4728_4731del (p.Met1576IlefsTer4)
n.3402_3405del
c.*491_*494del (n.*491_*494del)
c.35_38del
15g.48467955C>ACA392352770FBN1c.4730G>T (p.Cys1577Phe)
n.3404G>T
c.*493G>T (n.*493G>T)
c.37G>T
15g.48467955C=CA2175518202FBN1c.4730G= (p.Cys1577=)
n.3404G=
c.*493G= (n.*493G=)
c.37G=
15g.48467955C>GCA392352777FBN1c.4730G>C (p.Cys1577Ser)
n.3404G>C
c.*493G>C (n.*493G>C)
c.37G>C
15g.48467955C>TCA392352772FBN1c.4730G>A (p.Cys1577Tyr)
n.3404G>A
c.*493G>A (n.*493G>A)
c.37G>A
 dbSNP gnomAD v2 gnomAD v4
15g.48467956A=CA2175518203FBN1c.4729T= (p.Cys1577=)
n.3403T=
c.*492T= (n.*492T=)
c.36T=
15g.48467956A>CCA015386FBN1c.4729T>G (p.Cys1577Gly)
n.3403T>G
c.*492T>G (n.*492T>G)
c.36T>G
 ClinVar dbSNP
15g.48467956A>GCA392352781FBN1c.4729T>C (p.Cys1577Arg)
n.3403T>C
c.*492T>C (n.*492T>C)
c.36T>C
 ClinVar
15g.48467956A>TCA392352783FBN1c.4729T>A (p.Cys1577Ser)
n.3403T>A
c.*492T>A (n.*492T>A)
c.36T>A
15g.48467957C>ACA392352788FBN1c.4728G>T (p.Met1576Ile)
n.3402G>T
c.*491G>T (n.*491G>T)
c.35G>T
15g.48467957C>GCA392352791FBN1c.4728G>C (p.Met1576Ile)
n.3402G>C
c.*491G>C (n.*491G>C)
c.35G>C
15g.48467957C>TCA392352793FBN1c.4728G>A (p.Met1576Ile)
n.3402G>A
c.*491G>A (n.*491G>A)
c.35G>A
 ClinVar dbSNP
15g.48467957_48467959delinsAGGAGTACCA2695220586FBN1c.4726_4728delinsGTACTCCT (p.Met1576ValfsTer7)
n.3400_3402delinsGTACTCCT
c.*489_*491delinsGTACTCCT (n.*489_*491delinsGTACTCCT)
c.33_35delinsGTACTCCT
15g.48467958A=CA2175518204FBN1c.4727T= (p.Met1576=)
n.3401T=
c.*490T= (n.*490T=)
c.34T=
15g.48467958A>CCA392352795FBN1c.4727T>G (p.Met1576Arg)
n.3401T>G
c.*490T>G (n.*490T>G)
c.34T>G
15g.48467958A>GCA015377FBN1c.4727T>C (p.Met1576Thr)
n.3401T>C
c.*490T>C (n.*490T>C)
c.34T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48467958A>TCA392352800FBN1c.4727T>A (p.Met1576Lys)
n.3401T>A
c.*490T>A (n.*490T>A)
c.34T>A
15g.48467959T>ACA392352804FBN1c.4726A>T (p.Met1576Leu)
n.3400A>T
c.*489A>T (n.*489A>T)
c.33A>T
 gnomAD v4
15g.48467959T>CCA392352808FBN1c.4726A>G (p.Met1576Val)
n.3400A>G
c.*489A>G (n.*489A>G)
c.33A>G
 gnomAD v4
15g.48467959T>GCA392352811FBN1c.4726A>C (p.Met1576Leu)
n.3400A>C
c.*489A>C (n.*489A>C)
c.33A>C
15g.48467960C>ACA392352815FBN1c.4725G>T (p.Glu1575Asp)
n.3399G>T
c.*488G>T (n.*488G>T)
c.32G>T
15g.48467960C>GCA392352818FBN1c.4725G>C (p.Glu1575Asp)
n.3399G>C
c.*488G>C (n.*488G>C)
c.32G>C
15g.48467960C>TCA490027125FBN1c.4725G>A (p.Glu1575=)
n.3399G>A
c.*488G>A (n.*488G>A)
c.32G>A
15g.48467969_48467970insTGTGTACTCACAAGGACA2580089656FBN1c.4725_4726insTACACATCCTTGTGAG (p.Met1576TyrfsTer5)
n.3399_3400insTACACATCCTTGTGAG
c.*488_*489insTACACATCCTTGTGAG (n.*488_*489insTACACATCCTTGTGAG)
c.32_33insTACACATCCTTGTGAG
 ClinVar dbSNP
15g.48467961T>ACA392352821FBN1c.4724A>T (p.Glu1575Val)
n.3398A>T
c.*487A>T (n.*487A>T)
c.31A>T
15g.48467961T>CCA392352825FBN1c.4724A>G (p.Glu1575Gly)
n.3398A>G
c.*487A>G (n.*487A>G)
c.31A>G
15g.48467961T>GCA392352828FBN1c.4724A>C (p.Glu1575Ala)
n.3398A>C
c.*487A>C (n.*487A>C)
c.31A>C
15g.48467962C>ACA392352831FBN1c.4723G>T (p.Glu1575Ter)
n.3397G>T
c.*486G>T (n.*486G>T)
c.30G>T
 ClinVar dbSNP
15g.48467962C>GCA392352837FBN1c.4723G>C (p.Glu1575Gln)
n.3397G>C
c.*486G>C (n.*486G>C)
c.30G>C
15g.48467962C>TCA392352839FBN1c.4723G>A (p.Glu1575Lys)
n.3397G>A
c.*486G>A (n.*486G>A)
c.30G>A
 gnomAD v4
15g.48467963A>CCA392352841FBN1c.4722T>G (p.Cys1574Trp)
n.3396T>G
c.*485T>G (n.*485T>G)
c.29T>G
15g.48467963A>GCA490027126FBN1c.4722T>C (p.Cys1574=)
n.3396T>C
c.*485T>C (n.*485T>C)
c.29T>C
15g.48467963A>TCA392352842FBN1c.4722T>A (p.Cys1574Ter)
n.3396T>A
c.*485T>A (n.*485T>A)
c.29T>A
15g.48467963_48467964delinsACCA2175518205FBN1c.4721_4722delinsGT (p.Cys1574=)
n.3395_3396delinsGT
c.*484_*485delinsGT (n.*484_*485delinsGT)
c.28_29delinsGT
15g.48467963_48467977delinsTGCA2573054034FBN1c.4708_4722delinsCA (p.Trp1570GlnfsTer7)
n.3382_3396delinsCA
c.*471_*485delinsCA (n.*471_*485delinsCA)
c.15_29delinsCA
 ClinVar dbSNP
15g.48467964delCA658798340FBN1c.4721del (p.Cys1574LeufsTer7)
n.3395del
c.*484del (n.*484del)
c.28del
 ClinVar dbSNP
15g.48467964C>ACA392352843FBN1c.4721G>T (p.Cys1574Phe)
n.3395G>T
c.*484G>T (n.*484G>T)
c.28G>T
15g.48467964C>GCA392352845FBN1c.4721G>C (p.Cys1574Ser)
n.3395G>C
c.*484G>C (n.*484G>C)
c.28G>C
15g.48467964C>TCA392352847FBN1c.4721G>A (p.Cys1574Tyr)
n.3395G>A
c.*484G>A (n.*484G>A)
c.28G>A
15g.48467964_48467965insTTCTGTGTCA2504554227FBN1c.4720_4721insACACAGAA (p.Cys1574TyrfsTer10)
n.3394_3395insACACAGAA
c.*483_*484insACACAGAA (n.*483_*484insACACAGAA)
c.27_28insACACAGAA
15g.48467965A>CCA392352852FBN1c.4720T>G (p.Cys1574Gly)
n.3394T>G
c.*483T>G (n.*483T>G)
c.27T>G
15g.48467965A>GCA392352855FBN1c.4720T>C (p.Cys1574Arg)
n.3394T>C
c.*483T>C (n.*483T>C)
c.27T>C
15g.48467965A>TCA392352850FBN1c.4720T>A (p.Cys1574Ser)
n.3394T>A
c.*483T>A (n.*483T>A)
c.27T>A
15g.48467966A=CA2175518207FBN1c.4719T= (p.Pro1573=)
n.3393T=
c.*482T= (n.*482T=)
c.26T=
15g.48467966A>CCA490027128FBN1c.4719T>G (p.Pro1573=)
n.3393T>G
c.*482T>G (n.*482T>G)
c.26T>G
15g.48467966A>GCA053546FBN1c.4719T>C (p.Pro1573=)
n.3393T>C
c.*482T>C (n.*482T>C)
c.26T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48467966A>TCA490027127FBN1c.4719T>A (p.Pro1573=)
n.3393T>A
c.*482T>A (n.*482T>A)
c.26T>A
 dbSNP
15g.48467966_48468010delinsAGGAGTACCCCAGGCTTTACCCAGAGAACAGCAGCAGGAAGCTTTCA2175518206FBN1c.4675_4719delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT (p.Lys1559=)
n.3349_3393delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT
c.*438_*482delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT (n.*438_*482delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT)
15g.48467967G>ACA392352860FBN1c.4718C>T (p.Pro1573Leu)
n.3392C>T
c.*481C>T (n.*481C>T)
c.25C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48467967G>CCA392352864FBN1c.4718C>G (p.Pro1573Arg)
n.3392C>G
c.*481C>G (n.*481C>G)
c.25C>G
15g.48467967G=CA2175518208FBN1c.4718C= (p.Pro1573=)
n.3392C=
c.*481C= (n.*481C=)
c.25C=
15g.48467967G>TCA392352867FBN1c.4718C>A (p.Pro1573His)
n.3392C>A
c.*481C>A (n.*481C>A)
c.25C>A
15g.48467970_48468013delCA015290FBN1c.4675_4718del (p.Lys1559LeufsTer2)
n.3349_3392del
c.*438_*481del (n.*438_*481del)
 ClinVar dbSNP
15g.48467968G>ACA392352871FBN1c.4717C>T (p.Pro1573Ser)
n.3391C>T
c.*480C>T (n.*480C>T)
c.24C>T
 gnomAD v4
15g.48467968G>CCA392352872FBN1c.4717C>G (p.Pro1573Ala)
n.3391C>G
c.*480C>G (n.*480C>G)
c.24C>G
 gnomAD v4
15g.48467968G>TCA392352873FBN1c.4717C>A (p.Pro1573Thr)
n.3391C>A
c.*480C>A (n.*480C>A)
c.24C>A
15g.48467969A>CCA490027129FBN1c.4716T>G (p.Thr1572=)
n.3390T>G
c.*479T>G (n.*479T>G)
c.23T>G
15g.48467969A>GCA490027130FBN1c.4716T>C (p.Thr1572=)
n.3390T>C
c.*479T>C (n.*479T>C)
c.23T>C
15g.48467969A>TCA490027131FBN1c.4716T>A (p.Thr1572=)
n.3390T>A
c.*479T>A (n.*479T>A)
c.23T>A
15g.48467970G>ACA392352874FBN1c.4715C>T (p.Thr1572Ile)
n.3389C>T
c.*478C>T (n.*478C>T)
c.22C>T
 gnomAD v4
15g.48467970G>CCA392352875FBN1c.4715C>G (p.Thr1572Ser)
n.3389C>G
c.*478C>G (n.*478C>G)
c.22C>G
15g.48467970G>TCA392352879FBN1c.4715C>A (p.Thr1572Asn)
n.3389C>A
c.*478C>A (n.*478C>A)
c.22C>A
 ClinVar
15g.48467971T>ACA392352883FBN1c.4714A>T (p.Thr1572Ser)
n.3388A>T
c.*477A>T (n.*477A>T)
c.21A>T
 COSMIC
15g.48467971T>CCA392352884FBN1c.4714A>G (p.Thr1572Ala)
n.3388A>G
c.*477A>G (n.*477A>G)
c.21A>G
 ClinVar dbSNP gnomAD v4
15g.48467971T>GCA392352886FBN1c.4714A>C (p.Thr1572Pro)
n.3388A>C
c.*477A>C (n.*477A>C)
c.21A>C
15g.48467971T=CA2175518209FBN1c.4714A= (p.Thr1572=)
n.3388A=
c.*477A= (n.*477A=)
c.21A=
15g.48467972A=CA2175518210FBN1c.4713T= (p.Gly1571=)
n.3387T=
c.*476T= (n.*476T=)
c.20T=
15g.48467972A>CCA490027132FBN1c.4713T>G (p.Gly1571=)
n.3387T>G
c.*476T>G (n.*476T>G)
c.20T>G
15g.48467972A>GCA490027133FBN1c.4713T>C (p.Gly1571=)
n.3387T>C
c.*476T>C (n.*476T>C)
c.20T>C
15g.48467972A>TCA490027134FBN1c.4713T>A (p.Gly1571=)
n.3387T>A
c.*476T>A (n.*476T>A)
c.20T>A
 ClinVar dbSNP gnomAD v2
15g.48467973C>ACA392352893FBN1c.4712G>T (p.Gly1571Val)
n.3386G>T
c.*475G>T (n.*475G>T)
c.19G>T
15g.48467973C>GCA392352891FBN1c.4712G>C (p.Gly1571Ala)
n.3386G>C
c.*475G>C (n.*475G>C)
c.19G>C
15g.48467973C>TCA392352892FBN1c.4712G>A (p.Gly1571Asp)
n.3386G>A
c.*475G>A (n.*475G>A)
c.19G>A
 ClinVar dbSNP
15g.48467974C>ACA392352896FBN1c.4711G>T (p.Gly1571Cys)
n.3385G>T
c.*474G>T (n.*474G>T)
c.18G>T
15g.48467974C>GCA392352897FBN1c.4711G>C (p.Gly1571Arg)
n.3385G>C
c.*474G>C (n.*474G>C)
c.18G>C
15g.48467974C>TCA392352898FBN1c.4711G>A (p.Gly1571Ser)
n.3385G>A
c.*474G>A (n.*474G>A)
c.18G>A
15g.48467975C>ACA015367FBN1c.4710G>T (p.Trp1570Cys)
n.3384G>T
c.*473G>T (n.*473G>T)
c.17G>T
 ClinVar dbSNP
15g.48467975C=CA2175518211FBN1c.4710G= (p.Trp1570=)
n.3384G=
c.*473G= (n.*473G=)
c.17G=
15g.48467975C>GCA015361FBN1c.4710G>C (p.Trp1570Cys)
n.3384G>C
c.*473G>C (n.*473G>C)
c.17G>C
 ClinVar dbSNP
15g.48467975C>TCA392352902FBN1c.4710G>A (p.Trp1570Ter)
n.3384G>A
c.*473G>A (n.*473G>A)
c.17G>A
 ClinVar dbSNP COSMIC
15g.48467975_48467977delCA2580089659FBN1c.4708_4710del (p.Trp1570del)
n.3382_3384del
c.*471_*473del (n.*471_*473del)
c.15_17del
 ClinVar
15g.48467976C>ACA392352907FBN1c.4709G>T (p.Trp1570Leu)
n.3383G>T
c.*472G>T (n.*472G>T)
c.16G>T
15g.48467976C>GCA392352909FBN1c.4709G>C (p.Trp1570Ser)
n.3383G>C
c.*472G>C (n.*472G>C)
c.16G>C
15g.48467976C>TCA392352912FBN1c.4709G>A (p.Trp1570Ter)
n.3383G>A
c.*472G>A (n.*472G>A)
c.16G>A
 COSMIC
15g.48467977A=CA2175518212FBN1c.4708T= (p.Trp1570=)
n.3382T=
c.*471T= (n.*471T=)
c.15T=
15g.48467977A>CCA392352916FBN1c.4708T>G (p.Trp1570Gly)
n.3382T>G
c.*471T>G (n.*471T>G)
c.15T>G
15g.48467977A>GCA392352917FBN1c.4708T>C (p.Trp1570Arg)
n.3382T>C
c.*471T>C (n.*471T>C)
c.15T>C
 ClinVar dbSNP
15g.48467977A>TCA392352919FBN1c.4708T>A (p.Trp1570Arg)
n.3382T>A
c.*471T>A (n.*471T>A)
c.15T>A
15g.48467978G>ACA490027136FBN1c.4707C>T (p.Ala1569=)
n.3381C>T
c.*470C>T (n.*470C>T)
c.14C>T
15g.48467978G>CCA015350FBN1c.4707C>G (p.Ala1569=)
n.3381C>G
c.*470C>G (n.*470C>G)
c.14C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48467978G=CA2175518213FBN1c.4707C= (p.Ala1569=)
n.3381C=
c.*470C= (n.*470C=)
c.14C=
15g.48467978G>TCA490027135FBN1c.4707C>A (p.Ala1569=)
n.3381C>A
c.*470C>A (n.*470C>A)
c.14C>A
15g.48467979delCA2695220587FBN1c.4707del (p.Trp1570GlyfsTer11)
n.3381del
c.*470del (n.*470del)
c.14del
15g.48467978_48467981dupCA2740096587FBN1c.4704_4707dup (p.Trp1570SerfsTer7)
n.3378_3381dup
c.*467_*470dup (n.*467_*470dup)
c.11_14dup
 ClinVar
15g.48467979G>ACA392352929FBN1c.4706C>T (p.Ala1569Val)
n.3380C>T
c.*469C>T (n.*469C>T)
c.13C>T
15g.48467979G>CCA392352926FBN1c.4706C>G (p.Ala1569Gly)
n.3380C>G
c.*469C>G (n.*469C>G)
c.13C>G
15g.48467979G>TCA392352928FBN1c.4706C>A (p.Ala1569Asp)
n.3380C>A
c.*469C>A (n.*469C>A)
c.13C>A
15g.48467980C>ACA392352930FBN1c.4705G>T (p.Ala1569Ser)
n.3379G>T
c.*468G>T (n.*468G>T)
c.12G>T
15g.48467980C=CA2175518214FBN1c.4705G= (p.Ala1569=)
n.3379G=
c.*468G= (n.*468G=)
c.12G=
15g.48467980C>GCA392352931FBN1c.4705G>C (p.Ala1569Pro)
n.3379G>C
c.*468G>C (n.*468G>C)
c.12G>C
15g.48467980C>TCA392352932FBN1c.4705G>A (p.Ala1569Thr)
n.3379G>A
c.*468G>A (n.*468G>A)
c.12G>A
 gnomAD v4
15g.48467981T>ACA392352934FBN1c.4704A>T (p.Lys1568Asn)
n.3378A>T
c.*467A>T (n.*467A>T)
c.11A>T
 ClinVar dbSNP
15g.48467981T>CCA015341FBN1c.4704A>G (p.Lys1568=)
n.3378A>G
c.*467A>G (n.*467A>G)
c.11A>G
 ClinVar dbSNP
15g.48467981T>GCA392352933FBN1c.4704A>C (p.Lys1568Asn)
n.3378A>C
c.*467A>C (n.*467A>C)
c.11A>C
15g.48467981T=CA2175518215FBN1c.4704A= (p.Lys1568=)
n.3378A=
c.*467A= (n.*467A=)
c.11A=
15g.48467983dupCA658798341FBN1c.4704dup (p.Ala1569SerfsTer7)
n.3378dup
c.*467dup (n.*467dup)
c.11dup
 ClinVar dbSNP
15g.48467982_48467983dupCA2695220589FBN1c.4703_4704dup (p.Ala1569LysfsTer13)
n.3377_3378dup
c.*466_*467dup (n.*466_*467dup)
c.10_11dup
15g.48467983delCA2695220588FBN1c.4704del (p.Ala1569ProfsTer12)
n.3378del
c.*467del (n.*467del)
c.11del
15g.48467982T>ACA392352935FBN1c.4703A>T (p.Lys1568Ile)
n.3377A>T
c.*466A>T (n.*466A>T)
c.10A>T
15g.48467982T>CCA392352936FBN1c.4703A>G (p.Lys1568Arg)
n.3377A>G
c.*466A>G (n.*466A>G)
c.10A>G
15g.48467982T>GCA392352937FBN1c.4703A>C (p.Lys1568Thr)
n.3377A>C
c.*466A>C (n.*466A>C)
c.10A>C
 COSMIC
15g.48467983T>ACA392352938FBN1c.4702A>T (p.Lys1568Ter)
n.3376A>T
c.*465A>T (n.*465A>T)
c.9A>T
15g.48467983T>CCA392352939FBN1c.4702A>G (p.Lys1568Glu)
n.3376A>G
c.*465A>G (n.*465A>G)
c.9A>G
15g.48467983T>GCA392352940FBN1c.4702A>C (p.Lys1568Gln)
n.3376A>C
c.*465A>C (n.*465A>C)
c.9A>C
15g.48467984A>CCA490027137FBN1c.4701T>G (p.Gly1567=)
n.3375T>G
c.*464T>G (n.*464T>G)
c.8T>G
15g.48467984A>GCA490027138FBN1c.4701T>C (p.Gly1567=)
n.3375T>C
c.*464T>C (n.*464T>C)
c.8T>C
15g.48467984A>TCA490027139FBN1c.4701T>A (p.Gly1567=)
n.3375T>A
c.*464T>A (n.*464T>A)
c.8T>A
15g.48467984_48467985delinsACCA2175518216FBN1c.4700_4701delinsGT (p.Gly1567=)
n.3374_3375delinsGT
c.*463_*464delinsGT (n.*463_*464delinsGT)
c.7_8delinsGT
15g.48467985C>ACA392352941FBN1c.4700G>T (p.Gly1567Val)
n.3374G>T
c.*463G>T (n.*463G>T)
c.7G>T
15g.48467985C>GCA392352943FBN1c.4700G>C (p.Gly1567Ala)
n.3374G>C
c.*463G>C (n.*463G>C)
c.7G>C
15g.48467985C>TCA392352942FBN1c.4700G>A (p.Gly1567Asp)
n.3374G>A
c.*463G>A (n.*463G>A)
c.7G>A
15g.48467987delCA913190362FBN1c.4700del (p.Gly1567ValfsTer14)
n.3374del
c.*463del (n.*463del)
c.7del
 ClinVar dbSNP
15g.48467986_48467987delCA2695220590FBN1c.4699_4700del (p.Gly1567Ter)
n.3373_3374del
c.*462_*463del (n.*462_*463del)
c.6_7del
15g.48467986C>ACA392352944FBN1c.4699G>T (p.Gly1567Cys)
n.3373G>T
c.*462G>T (n.*462G>T)
c.6G>T
15g.48467986C=CA2175518217FBN1c.4699G= (p.Gly1567=)
n.3373G=
c.*462G= (n.*462G=)
c.6G=
15g.48467986C>GCA392352945FBN1c.4699G>C (p.Gly1567Arg)
n.3373G>C
c.*462G>C (n.*462G>C)
c.6G>C
15g.48467986C>TCA392352946FBN1c.4699G>A (p.Gly1567Ser)
n.3373G>A
c.*462G>A (n.*462G>A)
c.6G>A
 dbSNP
15g.48467987C>ACA490027140FBN1c.4698G>T (p.Leu1566=)
n.3372G>T
c.*461G>T (n.*461G>T)
c.5G>T
 dbSNP gnomAD v2 gnomAD v4
15g.48467987C=CA2175518218FBN1c.4698G= (p.Leu1566=)
n.3372G=
c.*461G= (n.*461G=)
c.5G=
15g.48467987C>GCA490027141FBN1c.4698G>C (p.Leu1566=)
n.3372G>C
c.*461G>C (n.*461G>C)
c.5G>C
15g.48467987C>TCA269551678FBN1c.4698G>A (p.Leu1566=)
n.3372G>A
c.*461G>A (n.*461G>A)
c.5G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.48467988A>CCA392352947FBN1c.4697T>G (p.Leu1566Arg)
n.3371T>G
c.*460T>G (n.*460T>G)
c.4T>G
15g.48467988A>GCA392352948FBN1c.4697T>C (p.Leu1566Pro)
n.3371T>C
c.*460T>C (n.*460T>C)
c.4T>C
15g.48467988A>TCA392352949FBN1c.4697T>A (p.Leu1566Gln)
n.3371T>A
c.*460T>A (n.*460T>A)
c.4T>A
15g.48467988_48468001delCA2695220591FBN1c.4684_4697del (p.Cys1562GlyfsTer2)
n.3358_3371del
c.*447_*460del (n.*447_*460del)
15g.48467989G>ACA490027142FBN1c.4696C>T (p.Leu1566=)
n.3370C>T
c.*459C>T (n.*459C>T)
c.3C>T
 COSMIC
15g.48467989G>CCA392352950FBN1c.4696C>G (p.Leu1566Val)
n.3370C>G
c.*459C>G (n.*459C>G)
c.3C>G
15g.48467989G>TCA392352951FBN1c.4696C>A (p.Leu1566Met)
n.3370C>A
c.*459C>A (n.*459C>A)
c.3C>A
15g.48467990A=CA2175518219FBN1c.4695T= (p.Ser1565=)
n.3369T=
c.*458T= (n.*458T=)
c.2T=
15g.48467990A>CCA490027143FBN1c.4695T>G (p.Ser1565=)
n.3369T>G
c.*458T>G (n.*458T>G)
c.2T>G
15g.48467990A>GCA490027144FBN1c.4695T>C (p.Ser1565=)
n.3369T>C
c.*458T>C (n.*458T>C)
c.2T>C
15g.48467990A>TCA490027145FBN1c.4695T>A (p.Ser1565=)
n.3369T>A
c.*458T>A (n.*458T>A)
c.2T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.48467991G>ACA392352952FBN1c.4694C>T (p.Ser1565Phe)
n.3368C>T
c.*457C>T (n.*457C>T)
c.1C>T
 ClinVar dbSNP
15g.48467991G>CCA392352953FBN1c.4694C>G (p.Ser1565Cys)
n.3368C>G
c.*457C>G (n.*457C>G)
c.1C>G
15g.48467991G=CA2175518220FBN1c.4694C= (p.Ser1565=)
n.3368C=
c.*457C= (n.*457C=)
c.1C=
15g.48467991G>TCA392352954FBN1c.4694C>A (p.Ser1565Tyr)
n.3368C>A
c.*457C>A (n.*457C>A)
c.1C>A
15g.48467992A>CCA392352957FBN1c.4693T>G (p.Ser1565Ala)
n.3367T>G
c.*456T>G (n.*456T>G)
15g.48467992A>GCA392352956FBN1c.4693T>C (p.Ser1565Pro)
n.3367T>C
c.*456T>C (n.*456T>C)
15g.48467992A>TCA392352955FBN1c.4693T>A (p.Ser1565Thr)
n.3367T>A
c.*456T>A (n.*456T>A)
15g.48467992_48467995dupCA2695220592FBN1c.4690_4693dup (p.Ser1565LeufsTer5)
n.3364_3367dup
c.*453_*456dup (n.*453_*456dup)
15g.48467993A>CCA392352959FBN1c.4692T>G (p.Cys1564Trp)
n.3366T>G
c.*455T>G (n.*455T>G)
15g.48467993A>GCA490027146FBN1c.4692T>C (p.Cys1564=)
n.3366T>C
c.*455T>C (n.*455T>C)
 gnomAD v4
15g.48467993A>TCA392352958FBN1c.4692T>A (p.Cys1564Ter)
n.3366T>A
c.*455T>A (n.*455T>A)
15g.48467994C>ACA392352960FBN1c.4691G>T (p.Cys1564Phe)
n.3365G>T
c.*454G>T (n.*454G>T)
15g.48467994C=CA2175518221FBN1c.4691G= (p.Cys1564=)
n.3365G=
c.*454G= (n.*454G=)
15g.48467994C>GCA015326FBN1c.4691G>C (p.Cys1564Ser)
n.3365G>C
c.*454G>C (n.*454G>C)
 ClinVar dbSNP
15g.48467994C>TCA16609286FBN1c.4691G>A (p.Cys1564Tyr)
n.3365G>A
c.*454G>A (n.*454G>A)
 ClinVar dbSNP gnomAD v4
15g.48467995A>CCA392352961FBN1c.4690T>G (p.Cys1564Gly)
n.3364T>G
c.*453T>G (n.*453T>G)
15g.48467995A>GCA392352962FBN1c.4690T>C (p.Cys1564Arg)
n.3364T>C
c.*453T>C (n.*453T>C)
15g.48467995A>TCA392352963FBN1c.4690T>A (p.Cys1564Ser)
n.3364T>A
c.*453T>A (n.*453T>A)
15g.48467995_48467996insACAACA2499222979FBN1c.4690_4691insTGTT (p.Cys1564LeufsTer6)
n.3364_3365insTGTT
c.*453_*454insTGTT (n.*453_*454insTGTT)
 ClinVar dbSNP
15g.48467996G>ACA490027147FBN1c.4689C>T (p.Cys1563=)
n.3363C>T
c.*452C>T (n.*452C>T)
15g.48467996G>CCA392352964FBN1c.4689C>G (p.Cys1563Trp)
n.3363C>G
c.*452C>G (n.*452C>G)
 ClinVar dbSNP
15g.48467996G=CA2175518222FBN1c.4689C= (p.Cys1563=)
n.3363C=
c.*452C= (n.*452C=)
15g.48467996G>TCA392352965FBN1c.4689C>A (p.Cys1563Ter)
n.3363C>A
c.*452C>A (n.*452C>A)
15g.48467997C>ACA392352966FBN1c.4688G>T (p.Cys1563Phe)
n.3362G>T
c.*451G>T (n.*451G>T)
15g.48467997C=CA2175518223FBN1c.4688G= (p.Cys1563=)
n.3362G=
c.*451G= (n.*451G=)
15g.48467997C>GCA392352967FBN1c.4688G>C (p.Cys1563Ser)
n.3362G>C
c.*451G>C (n.*451G>C)
 ClinVar dbSNP
15g.48467997C>TCA392352968FBN1c.4688G>A (p.Cys1563Tyr)
n.3362G>A
c.*451G>A (n.*451G>A)
 ClinVar dbSNP
15g.48467998A=CA2175518224FBN1c.4687T= (p.Cys1563=)
n.3361T=
c.*450T= (n.*450T=)
15g.48467998A>CCA392352969FBN1c.4687T>G (p.Cys1563Gly)
n.3361T>G
c.*450T>G (n.*450T>G)
15g.48467998A>GCA392352970FBN1c.4687T>C (p.Cys1563Arg)
n.3361T>C
c.*450T>C (n.*450T>C)
15g.48467998A>TCA392352971FBN1c.4687T>A (p.Cys1563Ser)
n.3361T>A
c.*450T>A (n.*450T>A)
 ClinVar dbSNP
15g.48467999G>ACA490027148FBN1c.4686C>T (p.Cys1562=)
n.3360C>T
c.*449C>T (n.*449C>T)
15g.48467999G>CCA392352972FBN1c.4686C>G (p.Cys1562Trp)
n.3360C>G
c.*449C>G (n.*449C>G)
15g.48467999G>TCA392352973FBN1c.4686C>A (p.Cys1562Ter)
n.3360C>A
c.*449C>A (n.*449C>A)
15g.48468000C>ACA392352974FBN1c.4685G>T (p.Cys1562Phe)
n.3359G>T
c.*448G>T (n.*448G>T)
 ClinVar dbSNP
15g.48468000C>GCA392352976FBN1c.4685G>C (p.Cys1562Ser)
n.3359G>C
c.*448G>C (n.*448G>C)
15g.48468000C>TCA392352975FBN1c.4685G>A (p.Cys1562Tyr)
n.3359G>A
c.*448G>A (n.*448G>A)
 ClinVar
15g.48468001A=CA2175518225FBN1c.4684T= (p.Cys1562=)
n.3358T=
c.*447T= (n.*447T=)
15g.48468001A>CCA392352977FBN1c.4684T>G (p.Cys1562Gly)
n.3358T>G
c.*447T>G (n.*447T>G)
15g.48468001A>GCA392352978FBN1c.4684T>C (p.Cys1562Arg)
n.3358T>C
c.*447T>C (n.*447T>C)
 ClinVar dbSNP
15g.48468001A>TCA015315FBN1c.4684T>A (p.Cys1562Ser)
n.3358T>A
c.*447T>A (n.*447T>A)
 ClinVar dbSNP
15g.48468002G>ACA015306FBN1c.4683C>T (p.Ser1561=)
n.3357C>T
c.*446C>T (n.*446C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48468002G>CCA490027149FBN1c.4683C>G (p.Ser1561=)
n.3357C>G
c.*446C>G (n.*446C>G)
15g.48468002G=CA2175518226FBN1c.4683C= (p.Ser1561=)
n.3357C=
c.*446C= (n.*446C=)
15g.48468002G>TCA490027150FBN1c.4683C>A (p.Ser1561=)
n.3357C>A
c.*446C>A (n.*446C>A)
15g.48468003G>ACA392352979FBN1c.4682C>T (p.Ser1561Phe)
n.3356C>T
c.*445C>T (n.*445C>T)
 COSMIC
15g.48468003G>CCA392352980FBN1c.4682C>G (p.Ser1561Cys)
n.3356C>G
c.*445C>G (n.*445C>G)
15g.48468003G>TCA392352981FBN1c.4682C>A (p.Ser1561Tyr)
n.3356C>A
c.*445C>A (n.*445C>A)
15g.48468004A>CCA392352982FBN1c.4681T>G (p.Ser1561Ala)
n.3355T>G
c.*444T>G (n.*444T>G)
15g.48468004A>GCA392352983FBN1c.4681T>C (p.Ser1561Pro)
n.3355T>C
c.*444T>C (n.*444T>C)
15g.48468004A>TCA392352984FBN1c.4681T>A (p.Ser1561Thr)
n.3355T>A
c.*444T>A (n.*444T>A)
15g.48468005A=CA2175518227FBN1c.4680T= (p.Ala1560=)
n.3354T=
c.*443T= (n.*443T=)
15g.48468005A>CCA490027151FBN1c.4680T>G (p.Ala1560=)
n.3354T>G
c.*443T>G (n.*443T>G)
15g.48468005A>GCA490027152FBN1c.4680T>C (p.Ala1560=)
n.3354T>C
c.*443T>C (n.*443T>C)
 ClinVar dbSNP
15g.48468005A>TCA490027153FBN1c.4680T>A (p.Ala1560=)
n.3354T>A
c.*443T>A (n.*443T>A)
15g.48468006G>ACA392352986FBN1c.4679C>T (p.Ala1560Val)
n.3353C>T
c.*442C>T (n.*442C>T)
 ClinVar gnomAD v4
15g.48468006G>CCA392352987FBN1c.4679C>G (p.Ala1560Gly)
n.3353C>G
c.*442C>G (n.*442C>G)
 gnomAD v4
15g.48468006G>TCA392352985FBN1c.4679C>A (p.Ala1560Asp)
n.3353C>A
c.*442C>A (n.*442C>A)
15g.48468007C>ACA392352988FBN1c.4678G>T (p.Ala1560Ser)
n.3352G>T
c.*441G>T (n.*441G>T)
15g.48468007C=CA2175518228FBN1c.4678G= (p.Ala1560=)
n.3352G=
c.*441G= (n.*441G=)
15g.48468007C>GCA053517FBN1c.4678G>C (p.Ala1560Pro)
n.3352G>C
c.*441G>C (n.*441G>C)
 ClinVar dbSNP ExAC
15g.48468007C>TCA392352989FBN1c.4678G>A (p.Ala1560Thr)
n.3352G>A
c.*441G>A (n.*441G>A)
 ClinVar dbSNP gnomAD v4
15g.48468008T>ACA392352990FBN1c.4677A>T (p.Lys1559Asn)
n.3351A>T
c.*440A>T (n.*440A>T)
15g.48468008T>CCA490027154FBN1c.4677A>G (p.Lys1559=)
n.3351A>G
c.*440A>G (n.*440A>G)
15g.48468008T>GCA392352991FBN1c.4677A>C (p.Lys1559Asn)
n.3351A>C
c.*440A>C (n.*440A>C)
15g.48468009T>ACA392352994FBN1c.4676A>T (p.Lys1559Ile)
n.3350A>T
c.*439A>T (n.*439A>T)
15g.48468009T>CCA392352993FBN1c.4676A>G (p.Lys1559Arg)
n.3350A>G
c.*439A>G (n.*439A>G)
 gnomAD v4
15g.48468009T>GCA392352992FBN1c.4676A>C (p.Lys1559Thr)
n.3350A>C
c.*439A>C (n.*439A>C)
15g.48468010T>ACA392352995FBN1c.4675A>T (p.Lys1559Ter)
n.3349A>T
c.*438A>T (n.*438A>T)
15g.48468010T>CCA392352996FBN1c.4675A>G (p.Lys1559Glu)
n.3349A>G
c.*438A>G (n.*438A>G)
15g.48468010T>GCA392352997FBN1c.4675A>C (p.Lys1559Gln)
n.3349A>C
c.*438A>C (n.*438A>C)
15g.48468011G>ACA490027157FBN1c.4674C>T (p.Ser1558=)
n.3348C>T
c.*437C>T (n.*437C>T)
 dbSNP gnomAD v3 gnomAD v4
15g.48468011G>CCA490027156FBN1c.4674C>G (p.Ser1558=)
n.3348C>G
c.*437C>G (n.*437C>G)
15g.48468011G=CA2175518229FBN1c.4674C= (p.Ser1558=)
n.3348C=
c.*437C= (n.*437C=)
15g.48468011G>TCA490027155FBN1c.4674C>A (p.Ser1558=)
n.3348C>A
c.*437C>A (n.*437C>A)
15g.48468012G>ACA392352998FBN1c.4673C>T (p.Ser1558Phe)
n.3347C>T
c.*436C>T (n.*436C>T)
15g.48468012G>CCA392352999FBN1c.4673C>G (p.Ser1558Cys)
n.3347C>G
c.*436C>G (n.*436C>G)
15g.48468012G>TCA392353000FBN1c.4673C>A (p.Ser1558Tyr)
n.3347C>A
c.*436C>A (n.*436C>A)
15g.48468013A>CCA392353001FBN1c.4672T>G (p.Ser1558Ala)
n.3346T>G
c.*435T>G (n.*435T>G)
15g.48468013A>GCA392353003FBN1c.4672T>C (p.Ser1558Pro)
n.3346T>C
c.*435T>C (n.*435T>C)
 gnomAD v4
15g.48468013A>TCA392353002FBN1c.4672T>A (p.Ser1558Thr)
n.3346T>A
c.*435T>A (n.*435T>A)
15g.48468014A=CA2175518230FBN1c.4671T= (p.Val1557=)
n.3345T=
c.*434T= (n.*434T=)
15g.48468014A>CCA490027158FBN1c.4671T>G (p.Val1557=)
n.3345T>G
c.*434T>G (n.*434T>G)
15g.48468014A>GCA269551692FBN1c.4671T>C (p.Val1557=)
n.3345T>C
c.*434T>C (n.*434T>C)
 ClinVar dbSNP gnomAD v4
15g.48468014A>TCA490027159FBN1c.4671T>A (p.Val1557=)
n.3345T>A
c.*434T>A (n.*434T>A)
15g.48468015A>CCA392353004FBN1c.4670T>G (p.Val1557Gly)
n.3344T>G
c.*433T>G (n.*433T>G)
15g.48468015A>GCA392353005FBN1c.4670T>C (p.Val1557Ala)
n.3344T>C
c.*433T>C (n.*433T>C)
15g.48468015A>TCA392353006FBN1c.4670T>A (p.Val1557Asp)
n.3344T>A
c.*433T>A (n.*433T>A)
15g.48468016C>ACA392353007FBN1c.4669G>T (p.Val1557Phe)
n.3343G>T
c.*432G>T (n.*432G>T)
15g.48468016C=CA2175518231FBN1c.4669G= (p.Val1557=)
n.3343G=
c.*432G= (n.*432G=)
15g.48468016C>GCA269551693FBN1c.4669G>C (p.Val1557Leu)
n.3343G>C
c.*432G>C (n.*432G>C)
 dbSNP
15g.48468016C>TCA392353008FBN1c.4669G>A (p.Val1557Ile)
n.3343G>A
c.*432G>A (n.*432G>A)
15g.48468016_48468020delinsCACCACA2175518232FBN1c.4665_4669delinsTGGTG (p.Val1555=)
n.3339_3343delinsTGGTG
c.*428_*432delinsTGGTG (n.*428_*432delinsTGGTG)
15g.48468017A>CCA490027160FBN1c.4668T>G (p.Gly1556=)
n.3342T>G
c.*431T>G (n.*431T>G)
15g.48468017A>GCA490027161FBN1c.4668T>C (p.Gly1556=)
n.3342T>C
c.*431T>C (n.*431T>C)
15g.48468017A>TCA490027162FBN1c.4668T>A (p.Gly1556=)
n.3342T>A
c.*431T>A (n.*431T>A)
15g.48468019_48468022delCA658824314FBN1c.4665_4668del (p.Gly1556PhefsTer24)
n.3339_3342del
c.*428_*431del (n.*428_*431del)
 ClinVar dbSNP
15g.48468018C>ACA392353009FBN1c.4667G>T (p.Gly1556Val)
n.3341G>T
c.*430G>T (n.*430G>T)
15g.48468018C>GCA392353010FBN1c.4667G>C (p.Gly1556Ala)
n.3341G>C
c.*430G>C (n.*430G>C)
15g.48468018C>TCA392353011FBN1c.4667G>A (p.Gly1556Asp)
n.3341G>A
c.*430G>A (n.*430G>A)
 gnomAD v4
15g.48468019C>ACA392353012FBN1c.4666G>T (p.Gly1556Cys)
n.3340G>T
c.*429G>T (n.*429G>T)
15g.48468019C=CA2175518233FBN1c.4666G= (p.Gly1556=)
n.3340G=
c.*429G= (n.*429G=)
15g.48468019C>GCA392353013FBN1c.4666G>C (p.Gly1556Arg)
n.3340G>C
c.*429G>C (n.*429G>C)
15g.48468019C>TCA053505FBN1c.4666G>A (p.Gly1556Ser)
n.3340G>A
c.*429G>A (n.*429G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48468019_48468020dupCA2695220593FBN1c.4665_4666dup (p.Gly1556ValfsTer26)
n.3339_3340dup
c.*428_*429dup (n.*428_*429dup)
15g.48468020A=CA2175518234FBN1c.4665T= (p.Val1555=)
n.3339T=
c.*428T= (n.*428T=)
15g.48468020A>CCA490027163FBN1c.4665T>G (p.Val1555=)
n.3339T>G
c.*428T>G (n.*428T>G)
15g.48468020A>GCA053498FBN1c.4665T>C (p.Val1555=)
n.3339T>C
c.*428T>C (n.*428T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48468020A>TCA490027164FBN1c.4665T>A (p.Val1555=)
n.3339T>A
c.*428T>A (n.*428T>A)
15g.48468021A>CCA392353015FBN1c.4664T>G (p.Val1555Gly)
n.3338T>G
c.*427T>G (n.*427T>G)
 gnomAD v4
15g.48468021A>GCA392353014FBN1c.4664T>C (p.Val1555Ala)
n.3338T>C
c.*427T>C (n.*427T>C)
 ClinVar gnomAD v4
15g.48468021A>TCA392353016FBN1c.4664T>A (p.Val1555Asp)
n.3338T>A
c.*427T>A (n.*427T>A)
15g.48468022C>ACA392353017FBN1c.4663G>T (p.Val1555Phe)
n.3337G>T
c.*426G>T (n.*426G>T)
 COSMIC
15g.48468022C=CA2175518235FBN1c.4663G= (p.Val1555=)
n.3337G=
c.*426G= (n.*426G=)
15g.48468022C>GCA392353018FBN1c.4663G>C (p.Val1555Leu)
n.3337G>C
c.*426G>C (n.*426G>C)
 ClinVar dbSNP
15g.48468022C>TCA053486FBN1c.4663G>A (p.Val1555Ile)
n.3337G>A
c.*426G>A (n.*426G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48468023T>ACA490027165FBN1c.4662A>T (p.Gly1554=)
n.3336A>T
c.*425A>T (n.*425A>T)
15g.48468023T>CCA490027166FBN1c.4662A>G (p.Gly1554=)
n.3336A>G
c.*425A>G (n.*425A>G)
15g.48468023T>GCA490027167FBN1c.4662A>C (p.Gly1554=)
n.3336A>C
c.*425A>C (n.*425A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48468023T=CA2175518236FBN1c.4662A= (p.Gly1554=)
n.3336A=
c.*425A= (n.*425A=)
15g.48468024C>ACA392353019FBN1c.4661G>T (p.Gly1554Val)
n.3335G>T
c.*424G>T (n.*424G>T)
 dbSNP gnomAD v3 gnomAD v4
15g.48468024C=CA2175518237FBN1c.4661G= (p.Gly1554=)
n.3335G=
c.*424G= (n.*424G=)
15g.48468024C>GCA392353020FBN1c.4661G>C (p.Gly1554Ala)
n.3335G>C
c.*424G>C (n.*424G>C)
15g.48468024C>TCA392353021FBN1c.4661G>A (p.Gly1554Glu)
n.3335G>A
c.*424G>A (n.*424G>A)
 ClinVar
15g.48468025dupCA2695220594FBN1c.4661dup (p.Val1555SerfsTer14)
n.3335dup
c.*424dup (n.*424dup)
15g.48468025C>ACA392353022FBN1c.4660G>T (p.Gly1554Ter)
n.3334G>T
c.*423G>T (n.*423G>T)
 ClinVar dbSNP
15g.48468025C=CA2175518238FBN1c.4660G= (p.Gly1554=)
n.3334G=
c.*423G= (n.*423G=)
15g.48468025C>GCA392353023FBN1c.4660G>C (p.Gly1554Arg)
n.3334G>C
c.*423G>C (n.*423G>C)
15g.48468025C>TCA392353024FBN1c.4660G>A (p.Gly1554Arg)
n.3334G>A
c.*423G>A (n.*423G>A)
 gnomAD v4

Number of alleles fetched