Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.48465813_48465822delCA2695220576FBN1c.4787_4796del (p.Arg1596LeufsTer?)
n.3461_3470del
c.*550_*559del (n.*550_*559del)
c.94_103del
15g.48465820G>ACA015431FBN1c.4786C>T (p.Arg1596Ter)
n.3460C>T
c.*549C>T (n.*549C>T)
c.93C>T
 ClinVar dbSNP
15g.48465820G>CCA392351677FBN1c.4786C>G (p.Arg1596Gly)
n.3460C>G
c.*549C>G (n.*549C>G)
c.93C>G
15g.48465820G=CA2175517289FBN1c.4786C= (p.Arg1596=)
n.3460C=
c.*549C= (n.*549C=)
c.93C=
15g.48465820G>TCA490026917FBN1c.4786C>A (p.Arg1596=)
n.3460C>A
c.*549C>A (n.*549C>A)
c.93C>A
15g.48465821G>ACA490026919FBN1c.4785C>T (p.Phe1595=)
n.3459C>T
c.*548C>T (n.*548C>T)
c.92C>T
15g.48465821G>CCA392351679FBN1c.4785C>G (p.Phe1595Leu)
n.3459C>G
c.*548C>G (n.*548C>G)
c.92C>G
15g.48465821G>TCA392351681FBN1c.4785C>A (p.Phe1595Leu)
n.3459C>A
c.*548C>A (n.*548C>A)
c.92C>A
15g.48465822A>CCA392351689FBN1c.4784T>G (p.Phe1595Cys)
n.3458T>G
c.*547T>G (n.*547T>G)
c.91T>G
15g.48465822A>GCA392351684FBN1c.4784T>C (p.Phe1595Ser)
n.3458T>C
c.*547T>C (n.*547T>C)
c.91T>C
15g.48465822A>TCA392351687FBN1c.4784T>A (p.Phe1595Tyr)
n.3458T>A
c.*547T>A (n.*547T>A)
c.91T>A
15g.48465824delCA2695220577FBN1c.4784del (p.Phe1595SerfsTer?)
n.3458del
c.*547del (n.*547del)
c.91del
15g.48465823A>CCA392351693FBN1c.4783T>G (p.Phe1595Val)
n.3457T>G
c.*546T>G (n.*546T>G)
c.90T>G
15g.48465823A>GCA392351695FBN1c.4783T>C (p.Phe1595Leu)
n.3457T>C
c.*546T>C (n.*546T>C)
c.90T>C
15g.48465823A>TCA392351697FBN1c.4783T>A (p.Phe1595Ile)
n.3457T>A
c.*546T>A (n.*546T>A)
c.90T>A
15g.48465824A>CCA490026933FBN1c.4782T>G (p.Gly1594=)
n.3456T>G
c.*545T>G (n.*545T>G)
c.89T>G
15g.48465824A>GCA490026931FBN1c.4782T>C (p.Gly1594=)
n.3456T>C
c.*545T>C (n.*545T>C)
c.89T>C
15g.48465824A>TCA490026929FBN1c.4782T>A (p.Gly1594=)
n.3456T>A
c.*545T>A (n.*545T>A)
c.89T>A
15g.48465824_48465825delinsACCA2175517290FBN1c.4781_4782delinsGT (p.Gly1594=)
n.3455_3456delinsGT
c.*544_*545delinsGT (n.*544_*545delinsGT)
c.88_89delinsGT
15g.48465825C>ACA392351700FBN1c.4781G>T (p.Gly1594Val)
n.3455G>T
c.*544G>T (n.*544G>T)
c.88G>T
15g.48465825C=CA2175517291FBN1c.4781G= (p.Gly1594=)
n.3455G=
c.*544G= (n.*544G=)
c.88G=
15g.48465825C>GCA392351703FBN1c.4781G>C (p.Gly1594Ala)
n.3455G>C
c.*544G>C (n.*544G>C)
c.88G>C
15g.48465825C>TCA015420FBN1c.4781G>A (p.Gly1594Asp)
n.3455G>A
c.*544G>A (n.*544G>A)
c.88G>A
 ClinVar dbSNP
15g.48465826delCA913190361FBN1c.4781del (p.Gly1594ValfsTer?)
n.3455del
c.*544del (n.*544del)
c.88del
 ClinVar dbSNP
15g.48465826C>ACA392351707FBN1c.4780G>T (p.Gly1594Cys)
n.3454G>T
c.*543G>T (n.*543G>T)
c.87G>T
 ClinVar dbSNP
15g.48465826C=CA2175517292FBN1c.4780G= (p.Gly1594=)
n.3454G=
c.*543G= (n.*543G=)
c.87G=
15g.48465826C>GCA392351710FBN1c.4780G>C (p.Gly1594Arg)
n.3454G>C
c.*543G>C (n.*543G>C)
c.87G>C
15g.48465826C>TCA392351712FBN1c.4780G>A (p.Gly1594Ser)
n.3454G>A
c.*543G>A (n.*543G>A)
c.87G>A
15g.48465827T>ACA392351715FBN1c.4779A>T (p.Glu1593Asp)
n.3453A>T
c.*542A>T (n.*542A>T)
c.86A>T
15g.48465827T>CCA490026942FBN1c.4779A>G (p.Glu1593=)
n.3453A>G
c.*542A>G (n.*542A>G)
c.86A>G
 dbSNP gnomAD v3 gnomAD v4
15g.48465827T>GCA392351717FBN1c.4779A>C (p.Glu1593Asp)
n.3453A>C
c.*542A>C (n.*542A>C)
c.86A>C
15g.48465827T=CA2175517293FBN1c.4779A= (p.Glu1593=)
n.3453A=
c.*542A= (n.*542A=)
c.86A=
15g.48465828T>ACA392351720FBN1c.4778A>T (p.Glu1593Val)
n.3452A>T
c.*541A>T (n.*541A>T)
c.85A>T
15g.48465828T>CCA392351724FBN1c.4778A>G (p.Glu1593Gly)
n.3452A>G
c.*541A>G (n.*541A>G)
c.85A>G
 ClinVar
15g.48465828T>GCA392351722FBN1c.4778A>C (p.Glu1593Ala)
n.3452A>C
c.*541A>C (n.*541A>C)
c.85A>C
15g.48465829C>ACA392351727FBN1c.4777G>T (p.Glu1593Ter)
n.3451G>T
c.*540G>T (n.*540G>T)
c.84G>T
15g.48465829C>GCA392351729FBN1c.4777G>C (p.Glu1593Gln)
n.3451G>C
c.*540G>C (n.*540G>C)
c.84G>C
15g.48465829C>TCA392351730FBN1c.4777G>A (p.Glu1593Lys)
n.3451G>A
c.*540G>A (n.*540G>A)
c.84G>A
 COSMIC
15g.48465832delCA2499222987FBN1c.4777del (p.Glu1593LysfsTer?)
n.3451del
c.*540del (n.*540del)
c.84del
 ClinVar dbSNP
15g.48465830C>ACA490026952FBN1c.4776G>T (p.Gly1592=)
n.3450G>T
c.*539G>T (n.*539G>T)
c.83G>T
15g.48465830C=CA2175517294FBN1c.4776G= (p.Gly1592=)
n.3450G=
c.*539G= (n.*539G=)
c.83G=
15g.48465830C>GCA490026954FBN1c.4776G>C (p.Gly1592=)
n.3450G>C
c.*539G>C (n.*539G>C)
c.83G>C
15g.48465830C>TCA490026956FBN1c.4776G>A (p.Gly1592=)
n.3450G>A
c.*539G>A (n.*539G>A)
c.83G>A
 ClinVar dbSNP gnomAD v4
15g.48465831C>ACA392351733FBN1c.4775G>T (p.Gly1592Val)
n.3449G>T
c.*538G>T (n.*538G>T)
c.82G>T
15g.48465831C=CA2175517296FBN1c.4775G= (p.Gly1592=)
n.3449G=
c.*538G= (n.*538G=)
c.82G=
15g.48465831C>GCA392351736FBN1c.4775G>C (p.Gly1592Ala)
n.3449G>C
c.*538G>C (n.*538G>C)
c.82G>C
15g.48465831C>TCA392351738FBN1c.4775G>A (p.Gly1592Glu)
n.3449G>A
c.*538G>A (n.*538G>A)
c.82G>A
 ClinVar dbSNP
15g.48465831_48465832delinsCCCA2175517295FBN1c.4774_4775delinsGG (p.Gly1592=)
n.3448_3449delinsGG
c.*537_*538delinsGG (n.*537_*538delinsGG)
c.81_82delinsGG
15g.48465831_48465832delinsTTCA269549799FBN1c.4774_4775delinsAA (p.Gly1592Lys)
n.3448_3449delinsAA
c.*537_*538delinsAA (n.*537_*538delinsAA)
c.81_82delinsAA
 dbSNP
15g.48465832C>ACA392351745FBN1c.4774G>T (p.Gly1592Trp)
n.3448G>T
c.*537G>T (n.*537G>T)
c.81G>T
15g.48465832C>GCA392351743FBN1c.4774G>C (p.Gly1592Arg)
n.3448G>C
c.*537G>C (n.*537G>C)
c.81G>C
15g.48465832C>TCA392351741FBN1c.4774G>A (p.Gly1592Arg)
n.3448G>A
c.*537G>A (n.*537G>A)
c.81G>A
15g.48465833T>ACA490026969FBN1c.4773A>T (p.Gly1591=)
n.3447A>T
c.*536A>T (n.*536A>T)
c.80A>T
15g.48465833T>CCA490026970FBN1c.4773A>G (p.Gly1591=)
n.3447A>G
c.*536A>G (n.*536A>G)
c.80A>G
15g.48465833T>GCA490026972FBN1c.4773A>C (p.Gly1591=)
n.3447A>C
c.*536A>C (n.*536A>C)
c.80A>C
 ClinVar
15g.48465834C>ACA392351747FBN1c.4772G>T (p.Gly1591Val)
n.3446G>T
c.*535G>T (n.*535G>T)
c.79G>T
15g.48465834C=CA2175517297FBN1c.4772G= (p.Gly1591=)
n.3446G=
c.*535G= (n.*535G=)
c.79G=
15g.48465834C>GCA392351749FBN1c.4772G>C (p.Gly1591Ala)
n.3446G>C
c.*535G>C (n.*535G>C)
c.79G>C
15g.48465834C>TCA053701FBN1c.4772G>A (p.Gly1591Glu)
n.3446G>A
c.*535G>A (n.*535G>A)
c.79G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48465834_48465836delinsCCACA2175517298FBN1c.4770_4772delinsTGG (p.Pro1590=)
n.3444_3446delinsTGG
c.*533_*535delinsTGG (n.*533_*535delinsTGG)
c.77_79delinsTGG
15g.48465835C>ACA392351753FBN1c.4771G>T (p.Gly1591Ter)
n.3445G>T
c.*534G>T (n.*534G>T)
c.78G>T
15g.48465835C=CA2175517299FBN1c.4771G= (p.Gly1591=)
n.3445G=
c.*534G= (n.*534G=)
c.78G=
15g.48465835C>GCA392351755FBN1c.4771G>C (p.Gly1591Arg)
n.3445G>C
c.*534G>C (n.*534G>C)
c.78G>C
15g.48465835C>TCA392351757FBN1c.4771G>A (p.Gly1591Arg)
n.3445G>A
c.*534G>A (n.*534G>A)
c.78G>A
 dbSNP gnomAD v2
15g.48465835_48465836delCA658824312FBN1c.4770_4771del (p.Gly1591ArgfsTer17)
n.3444_3445del
c.*533_*534del (n.*533_*534del)
c.77_78del
 ClinVar dbSNP
15g.48465836A>CCA490026981FBN1c.4770T>G (p.Pro1590=)
n.3444T>G
c.*533T>G (n.*533T>G)
c.77T>G
15g.48465836A>GCA490026982FBN1c.4770T>C (p.Pro1590=)
n.3444T>C
c.*533T>C (n.*533T>C)
c.77T>C
15g.48465836A>TCA490026984FBN1c.4770T>A (p.Pro1590=)
n.3444T>A
c.*533T>A (n.*533T>A)
c.77T>A
15g.48465837G>ACA392351759FBN1c.4769C>T (p.Pro1590Leu)
n.3443C>T
c.*532C>T (n.*532C>T)
c.76C>T
15g.48465837G>CCA392351763FBN1c.4769C>G (p.Pro1590Arg)
n.3443C>G
c.*532C>G (n.*532C>G)
c.76C>G
15g.48465837G>TCA392351761FBN1c.4769C>A (p.Pro1590His)
n.3443C>A
c.*532C>A (n.*532C>A)
c.76C>A
15g.48465838G>ACA392351766FBN1c.4768C>T (p.Pro1590Ser)
n.3442C>T
c.*531C>T (n.*531C>T)
c.75C>T
15g.48465838G>CCA392351768FBN1c.4768C>G (p.Pro1590Ala)
n.3442C>G
c.*531C>G (n.*531C>G)
c.75C>G
15g.48465838G>TCA392351770FBN1c.4768C>A (p.Pro1590Thr)
n.3442C>A
c.*531C>A (n.*531C>A)
c.75C>A
15g.48465839A>CCA392351773FBN1c.4767T>G (p.Cys1589Trp)
n.3441T>G
c.*530T>G (n.*530T>G)
c.74T>G
15g.48465839A>GCA490026993FBN1c.4767T>C (p.Cys1589=)
n.3441T>C
c.*530T>C (n.*530T>C)
c.74T>C
15g.48465839A>TCA392351774FBN1c.4767T>A (p.Cys1589Ter)
n.3441T>A
c.*530T>A (n.*530T>A)
c.74T>A
15g.48465839dupCA2580089649FBN1c.4767dup (p.Pro1590SerfsTer19)
n.3441dup
c.*530dup (n.*530dup)
c.74dup
 ClinVar
15g.48465840C>ACA392351777FBN1c.4766G>T (p.Cys1589Phe)
n.3440G>T
c.*529G>T (n.*529G>T)
c.73G>T
 ClinVar dbSNP
15g.48465840C=CA2175517300FBN1c.4766G= (p.Cys1589=)
n.3440G=
c.*529G= (n.*529G=)
c.73G=
15g.48465840C>GCA392351779FBN1c.4766G>C (p.Cys1589Ser)
n.3440G>C
c.*529G>C (n.*529G>C)
c.73G>C
15g.48465840C>TCA392351782FBN1c.4766G>A (p.Cys1589Tyr)
n.3440G>A
c.*529G>A (n.*529G>A)
c.73G>A
15g.48465841A>CCA392351786FBN1c.4765T>G (p.Cys1589Gly)
n.3439T>G
c.*528T>G (n.*528T>G)
c.72T>G
15g.48465841A>GCA392351788FBN1c.4765T>C (p.Cys1589Arg)
n.3439T>C
c.*528T>C (n.*528T>C)
c.72T>C
15g.48465841A>TCA392351790FBN1c.4765T>A (p.Cys1589Ser)
n.3439T>A
c.*528T>A (n.*528T>A)
c.72T>A
15g.48465842A=CA2175517301FBN1c.4764T= (p.Leu1588=)
n.3438T=
c.*527T= (n.*527T=)
c.71T=
15g.48465842A>CCA490027006FBN1c.4764T>G (p.Leu1588=)
n.3438T>G
c.*527T>G (n.*527T>G)
c.71T>G
15g.48465842A>GCA490027008FBN1c.4764T>C (p.Leu1588=)
n.3438T>C
c.*527T>C (n.*527T>C)
c.71T>C
 ClinVar dbSNP
15g.48465842A>TCA490027004FBN1c.4764T>A (p.Leu1588=)
n.3438T>A
c.*527T>A (n.*527T>A)
c.71T>A
15g.48465843A>CCA392351793FBN1c.4763T>G (p.Leu1588Arg)
n.3437T>G
c.*526T>G (n.*526T>G)
c.70T>G
15g.48465843A>GCA392351797FBN1c.4763T>C (p.Leu1588Pro)
n.3437T>C
c.*526T>C (n.*526T>C)
c.70T>C
 gnomAD v4
15g.48465843A>TCA392351796FBN1c.4763T>A (p.Leu1588His)
n.3437T>A
c.*526T>A (n.*526T>A)
c.70T>A
15g.48465844G>ACA392351800FBN1c.4762C>T (p.Leu1588Phe)
n.3436C>T
c.*525C>T (n.*525C>T)
c.69C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
15g.48465844G>CCA392351802FBN1c.4762C>G (p.Leu1588Val)
n.3436C>G
c.*525C>G (n.*525C>G)
c.69C>G
15g.48465844G=CA2175517302FBN1c.4762C= (p.Leu1588=)
n.3436C=
c.*525C= (n.*525C=)
c.69C=
15g.48465844G>TCA392351803FBN1c.4762C>A (p.Leu1588Ile)
n.3436C>A
c.*525C>A (n.*525C>A)
c.69C>A
15g.48465845A>CCA392351805FBN1c.4761T>G (p.Ile1587Met)
n.3435T>G
c.*524T>G (n.*524T>G)
c.68T>G
15g.48465845A>GCA490027017FBN1c.4761T>C (p.Ile1587=)
n.3435T>C
c.*524T>C (n.*524T>C)
c.68T>C
 gnomAD v4
15g.48465845A>TCA490027019FBN1c.4761T>A (p.Ile1587=)
n.3435T>A
c.*524T>A (n.*524T>A)
c.68T>A
15g.48465846_48465853delCA2695220582FBN1c.4754_4761del (p.Tyr1585SerfsTer21)
n.3428_3435del
c.*517_*524del (n.*517_*524del)
c.61_68del
15g.48465846A>CCA392351807FBN1c.4760T>G (p.Ile1587Ser)
n.3434T>G
c.*523T>G (n.*523T>G)
c.67T>G
15g.48465846A>GCA392351815FBN1c.4760T>C (p.Ile1587Thr)
n.3434T>C
c.*523T>C (n.*523T>C)
c.67T>C
15g.48465846A>TCA392351817FBN1c.4760T>A (p.Ile1587Asn)
n.3434T>A
c.*523T>A (n.*523T>A)
c.67T>A
15g.48465846_48465847delinsATCA2175517303FBN1c.4759_4760delinsAT (p.Ile1587=)
n.3433_3434delinsAT
c.*522_*523delinsAT (n.*522_*523delinsAT)
c.66_67delinsAT
15g.48465847T>ACA392351820FBN1c.4759A>T (p.Ile1587Phe)
n.3433A>T
c.*522A>T (n.*522A>T)
c.66A>T
15g.48465847T>CCA392351822FBN1c.4759A>G (p.Ile1587Val)
n.3433A>G
c.*522A>G (n.*522A>G)
c.66A>G
 gnomAD v4
15g.48465847T>GCA392351824FBN1c.4759A>C (p.Ile1587Leu)
n.3433A>C
c.*522A>C (n.*522A>C)
c.66A>C
15g.48465850delCA16042871FBN1c.4759del (p.Ile1587PhefsTer?)
n.3433del
c.*522del (n.*522del)
c.66del
 ClinVar dbSNP
15g.48465848T>ACA392351833FBN1c.4758A>T (p.Lys1586Asn)
n.3432A>T
c.*521A>T (n.*521A>T)
c.65A>T
15g.48465848T>CCA490027030FBN1c.4758A>G (p.Lys1586=)
n.3432A>G
c.*521A>G (n.*521A>G)
c.65A>G
15g.48465848T>GCA392351835FBN1c.4758A>C (p.Lys1586Asn)
n.3432A>C
c.*521A>C (n.*521A>C)
c.65A>C
15g.48465849T>ACA392351838FBN1c.4757A>T (p.Lys1586Ile)
n.3431A>T
c.*520A>T (n.*520A>T)
c.64A>T
15g.48465849T>CCA392351842FBN1c.4757A>G (p.Lys1586Arg)
n.3431A>G
c.*520A>G (n.*520A>G)
c.64A>G
 ClinVar dbSNP gnomAD v4
15g.48465849T>GCA392351840FBN1c.4757A>C (p.Lys1586Thr)
n.3431A>C
c.*520A>C (n.*520A>C)
c.64A>C
15g.48465849T=CA2175517304FBN1c.4757A= (p.Lys1586=)
n.3431A=
c.*520A= (n.*520A=)
c.64A=
15g.48465850T>ACA392351845FBN1c.4756A>T (p.Lys1586Ter)
n.3430A>T
c.*519A>T (n.*519A>T)
c.63A>T
15g.48465850T>CCA392351847FBN1c.4756A>G (p.Lys1586Glu)
n.3430A>G
c.*519A>G (n.*519A>G)
c.63A>G
15g.48465850T>GCA392351849FBN1c.4756A>C (p.Lys1586Gln)
n.3430A>C
c.*519A>C (n.*519A>C)
c.63A>C
15g.48465851delCA2695220583FBN1c.4755del (p.Tyr1585Ter)
n.3429del
c.*518del (n.*518del)
c.62del
15g.48465851G>ACA490027043FBN1c.4755C>T (p.Tyr1585=)
n.3429C>T
c.*518C>T (n.*518C>T)
c.62C>T
15g.48465851G>CCA392351852FBN1c.4755C>G (p.Tyr1585Ter)
n.3429C>G
c.*518C>G (n.*518C>G)
c.62C>G
15g.48465851G>TCA392351854FBN1c.4755C>A (p.Tyr1585Ter)
n.3429C>A
c.*518C>A (n.*518C>A)
c.62C>A
15g.48465852T>ACA392351856FBN1c.4754A>T (p.Tyr1585Phe)
n.3428A>T
c.*517A>T (n.*517A>T)
c.61A>T
 gnomAD v4
15g.48465852T>CCA392351858FBN1c.4754A>G (p.Tyr1585Cys)
n.3428A>G
c.*517A>G (n.*517A>G)
c.61A>G
15g.48465852T>GCA392351860FBN1c.4754A>C (p.Tyr1585Ser)
n.3428A>C
c.*517A>C (n.*517A>C)
c.61A>C
15g.48465853A>CCA392351863FBN1c.4753T>G (p.Tyr1585Asp)
n.3427T>G
c.*516T>G (n.*516T>G)
c.60T>G
15g.48465853A>GCA392351865FBN1c.4753T>C (p.Tyr1585His)
n.3427T>C
c.*516T>C (n.*516T>C)
c.60T>C
15g.48465853A>TCA392351866FBN1c.4753T>A (p.Tyr1585Asn)
n.3427T>A
c.*516T>A (n.*516T>A)
c.60T>A
15g.48465854C>ACA392351870FBN1c.4752G>T (p.Glu1584Asp)
n.3426G>T
c.*515G>T (n.*515G>T)
c.59G>T
15g.48465854C=CA2175517305FBN1c.4752G= (p.Glu1584=)
n.3426G=
c.*515G= (n.*515G=)
c.59G=
15g.48465854C>GCA392351872FBN1c.4752G>C (p.Glu1584Asp)
n.3426G>C
c.*515G>C (n.*515G>C)
c.59G>C
 gnomAD v4
15g.48465854C>TCA269549802FBN1c.4752G>A (p.Glu1584=)
n.3426G>A
c.*515G>A (n.*515G>A)
c.59G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48465855T>ACA392351877FBN1c.4751A>T (p.Glu1584Val)
n.3425A>T
c.*514A>T (n.*514A>T)
c.58A>T
 dbSNP gnomAD v3 gnomAD v4
15g.48465855T>CCA392351875FBN1c.4751A>G (p.Glu1584Gly)
n.3425A>G
c.*514A>G (n.*514A>G)
c.58A>G
15g.48465855T>GCA392351878FBN1c.4751A>C (p.Glu1584Ala)
n.3425A>C
c.*514A>C (n.*514A>C)
c.58A>C
15g.48465855T=CA2175517306FBN1c.4751A= (p.Glu1584=)
n.3425A=
c.*514A= (n.*514A=)
c.58A=
15g.48465856C>ACA392351881FBN1c.4750G>T (p.Glu1584Ter)
n.3424G>T
c.*513G>T (n.*513G>T)
c.57G>T
15g.48465856C=CA2175517307FBN1c.4750G= (p.Glu1584=)
n.3424G=
c.*513G= (n.*513G=)
c.57G=
15g.48465856C>GCA392351883FBN1c.4750G>C (p.Glu1584Gln)
n.3424G>C
c.*513G>C (n.*513G>C)
c.57G>C
15g.48465856C>TCA015412FBN1c.4750G>A (p.Glu1584Lys)
n.3424G>A
c.*513G>A (n.*513G>A)
c.57G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48465857G>ACA490027064FBN1c.4749C>T (p.Ser1583=)
n.3423C>T
c.*512C>T (n.*512C>T)
c.56C>T
 ClinVar dbSNP gnomAD v4
15g.48465857G>CCA490027066FBN1c.4749C>G (p.Ser1583=)
n.3423C>G
c.*512C>G (n.*512C>G)
c.56C>G
15g.48465857G=CA2175517308FBN1c.4749C= (p.Ser1583=)
n.3423C=
c.*512C= (n.*512C=)
c.56C=
15g.48465857G>TCA490027068FBN1c.4749C>A (p.Ser1583=)
n.3423C>A
c.*512C>A (n.*512C>A)
c.56C>A
 gnomAD v4
15g.48465858_48465859insATGTGTTCACAGCAGGACACATCTCACAAGGAGTACCCCAGGCA2628333573FBN1c.4749_4750insTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACATCC (p.Ser1583_Glu1584insTrpGlyThrProCysGluMetCysProAlaValAsnThrSer)
n.3423_3424insTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACATCC
c.*512_*513insTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACATCC (n.*512_*513insTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACATCC)
c.56_57insTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACATCC
 gnomAD v4
15g.48465858G>ACA392351886FBN1c.4748C>T (p.Ser1583Phe)
n.3422C>T
c.*511C>T (n.*511C>T)
c.55C>T
15g.48465858G>CCA392351888FBN1c.4748C>G (p.Ser1583Cys)
n.3422C>G
c.*511C>G (n.*511C>G)
c.55C>G
15g.48465858G=CA2175517309FBN1c.4748C= (p.Ser1583=)
n.3422C=
c.*511C= (n.*511C=)
c.55C=
15g.48465858G>TCA392351889FBN1c.4748C>A (p.Ser1583Tyr)
n.3422C>A
c.*511C>A (n.*511C>A)
c.55C>A
 ClinVar gnomAD v4
15g.48465858_48465859insATGTGTTCACAGCAGGACACATCTCACAAGGAGTACCCCAGGCTTTACCCAGAGAACAGCAGCAGGAAGCA969558229FBN1c.4748_4749insTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACATC (p.Ser1583_Glu1584insSerCysCysCysSerLeuGlyLysAlaTrpGlyThrProCysGluMetCysProAlaValAsnThrSer)
n.3422_3423insTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACATC
c.*511_*512insTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACATC (n.*511_*512insTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACATC)
c.55_56insTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACATC
 gnomAD v3 gnomAD v4
15g.48465858_48465859insATGTGTTCA617840258FBN1c.4748-1_4748insAACACAT (n.4748-1_4748insAACACAT)
n.3422-1_3422insAACACAT
c.*511-1_*511insAACACAT (n.*511-1_*511insAACACAT)
c.55-1_55insAACACAT
 dbSNP gnomAD v2
15g.48465858_48465859insATGTGTTCACAGCAGGACACATCA2628333620FBN1c.4748-1_4748insATGTGTCCTGCTGTGAACACAT (n.4748-1_4748insATGTGTCCTGCTGTGAACACAT)
n.3422-1_3422insATGTGTCCTGCTGTGAACACAT
c.*511-1_*511insATGTGTCCTGCTGTGAACACAT (n.*511-1_*511insATGTGTCCTGCTGTGAACACAT)
c.55-1_55insATGTGTCCTGCTGTGAACACAT
 gnomAD v4
15g.48465858_48465859insATGTGTTCACAGCAGGACACATCTCACAAGGAGTACA2628333623FBN1c.4748-1_4748insTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT (n.4748-1_4748insTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT)
n.3422-1_3422insTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT
c.*511-1_*511insTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT (n.*511-1_*511insTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT)
c.55-1_55insTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT
 gnomAD v4
15g.48465858_48465859insATGTGTTCACAGCAGGACACATCTCACAAGGAGTACCA2628333608FBN1c.4748-1_4748insGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT (n.4748-1_4748insGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT)
n.3422-1_3422insGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT
c.*511-1_*511insGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT (n.*511-1_*511insGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT)
c.55-1_55insGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT
 gnomAD v4
15g.48465858_48465859insATGTGTTCACAGCAGGACACATCTCACAAGGAGTACCCA2628333614FBN1c.4748-1_4748insGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT (n.4748-1_4748insGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT)
n.3422-1_3422insGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT
c.*511-1_*511insGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT (n.*511-1_*511insGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT)
c.55-1_55insGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT
 gnomAD v4
15g.48465858_48465859insATGTGTTCACAGCAGGACACATCTCACAAGGAGTACCCCA2628333618FBN1c.4748-1_4748insGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT (n.4748-1_4748insGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT)
n.3422-1_3422insGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT
c.*511-1_*511insGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT (n.*511-1_*511insGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT)
c.55-1_55insGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT
 gnomAD v4
15g.48465858_48465859insATGTGTTCACAGCAGGACACATCTCACAAGGAGTACCCCAGGCTTTACA2628333611FBN1c.4748-1_4748insTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT (n.4748-1_4748insTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT)
n.3422-1_3422insTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT
c.*511-1_*511insTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT (n.*511-1_*511insTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT)
c.55-1_55insTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT
 gnomAD v4
15g.48465858_48465859insATGTGTTCACAGCAGGACACATCTCACAAGGAGTACCCCAGGCTTTACCA969558233FBN1c.4748-1_4748insGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT (n.4748-1_4748insGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT)
n.3422-1_3422insGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT
c.*511-1_*511insGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT (n.*511-1_*511insGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT)
c.55-1_55insGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT
 gnomAD v3 gnomAD v4
15g.48465858_48465859insATGTGTTCACAGCAGGACACATCTCACAAGGAGTACCCCAGGCTTTACCCAGAGAACA2628333606FBN1c.4748-1_4748insTTCTCTGGGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT (n.4748-1_4748insTTCTCTGGGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT)
n.3422-1_3422insTTCTCTGGGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT
c.*511-1_*511insTTCTCTGGGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT (n.*511-1_*511insTTCTCTGGGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT)
c.55-1_55insTTCTCTGGGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT
 gnomAD v4
15g.48465859C>ACA392351892FBN1c.4748-1G>T (n.4748-1G>T)
n.3422-1G>T
c.*511-1G>T (n.*511-1G>T)
c.55-1G>T
15g.48465859C=CA2175517310FBN1c.4748-1G= (n.4748-1G=)
n.3422-1G=
c.*511-1G= (n.*511-1G=)
c.55-1G=
15g.48465859C>GCA392351894FBN1c.4748-1G>C (n.4748-1G>C)
n.3422-1G>C
c.*511-1G>C (n.*511-1G>C)
c.55-1G>C
15g.48465859C>TCA392351896FBN1c.4748-1G>A (n.4748-1G>A)
n.3422-1G>A
c.*511-1G>A (n.*511-1G>A)
c.55-1G>A
 ClinVar dbSNP
15g.48465859_48465860insACAGCAGGACACATCTCACAAGGAGTACCCCAGGCTTCA617840259FBN1c.4748-2_4748-1insAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGT (n.4748-2_4748-1insAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGT)
n.3422-2_3422-1insAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGT
c.*511-2_*511-1insAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGT (n.*511-2_*511-1insAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGT)
c.55-2_55-1insAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGT
 dbSNP gnomAD v2
15g.48465860T>ACA392351898FBN1c.4748-2A>T (n.4748-2A>T)
n.3422-2A>T
c.*511-2A>T (n.*511-2A>T)
c.55-2A>T
15g.48465860T>CCA392351900FBN1c.4748-2A>G (n.4748-2A>G)
n.3422-2A>G
c.*511-2A>G (n.*511-2A>G)
c.55-2A>G
 ClinVar dbSNP
15g.48465860T>GCA392351902FBN1c.4748-2A>C (n.4748-2A>C)
n.3422-2A>C
c.*511-2A>C (n.*511-2A>C)
c.55-2A>C
15g.48465860dupCA1139663944FBN1c.4748-2dup (n.4748-2dup)
n.3422-2dup
c.*511-2dup (n.*511-2dup)
c.55-2dup
 ClinVar dbSNP
15g.48465860_48465861insCACAAGGCA2628333628FBN1c.4748-3_4748-2insCCTTGTG (n.4748-3_4748-2insCCTTGTG)
n.3422-3_3422-2insCCTTGTG
c.*511-3_*511-2insCCTTGTG (n.*511-3_*511-2insCCTTGTG)
c.55-3_55-2insCCTTGTG
 gnomAD v4
15g.48465860_48465861insCACAAGGAGTACCCCAGGCTTTACCCCA2628333630FBN1c.4748-3_4748-2insGGGTAAAGCCTGGGGTACTCCTTGTG (n.4748-3_4748-2insGGGTAAAGCCTGGGGTACTCCTTGTG)
n.3422-3_3422-2insGGGTAAAGCCTGGGGTACTCCTTGTG
c.*511-3_*511-2insGGGTAAAGCCTGGGGTACTCCTTGTG (n.*511-3_*511-2insGGGTAAAGCCTGGGGTACTCCTTGTG)
c.55-3_55-2insGGGTAAAGCCTGGGGTACTCCTTGTG
 gnomAD v4
15g.48465861A=CA2175517311FBN1c.4748-3T= (n.4748-3T=)
n.3422-3T=
c.*511-3T= (n.*511-3T=)
c.55-3T=
15g.48465861A>CCA658824313FBN1c.4748-3T>G (n.4748-3T>G)
n.3422-3T>G
c.*511-3T>G (n.*511-3T>G)
c.55-3T>G
 ClinVar dbSNP
15g.48465861A>GCA053649FBN1c.4748-3T>C (n.4748-3T>C)
n.3422-3T>C
c.*511-3T>C (n.*511-3T>C)
c.55-3T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48465861A>TCA2628333632FBN1c.4748-3T>A (n.4748-3T>A)
n.3422-3T>A
c.*511-3T>A (n.*511-3T>A)
c.55-3T>A
 gnomAD v4
15g.48465862T>CCA2628333638FBN1c.4748-4A>G (n.4748-4A>G)
n.3422-4A>G
c.*511-4A>G (n.*511-4A>G)
c.55-4A>G
 ClinVar gnomAD v4
15g.48465863delCA2628333637FBN1c.4748-4del (n.4748-4del)
n.3422-4del
c.*511-4del (n.*511-4del)
c.55-4del
 gnomAD v4
15g.48465863T>GCA2628333639FBN1c.4748-5A>C (n.4748-5A>C)
n.3422-5A>C
c.*511-5A>C (n.*511-5A>C)
c.55-5A>C
 gnomAD v4
15g.48465864G>ACA053680FBN1c.4748-6C>T (n.4748-6C>T)
n.3422-6C>T
c.*511-6C>T (n.*511-6C>T)
c.55-6C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48465864G=CA2175517312FBN1c.4748-6C= (n.4748-6C=)
n.3422-6C=
c.*511-6C= (n.*511-6C=)
c.55-6C=
15g.48465865A=CA2175517313FBN1c.4748-7T= (n.4748-7T=)
n.3422-7T=
c.*511-7T= (n.*511-7T=)
c.55-7T=
15g.48465865A>GCA658798338FBN1c.4748-7T>C (n.4748-7T>C)
n.3422-7T>C
c.*511-7T>C (n.*511-7T>C)
c.55-7T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.48465866_48465867insTTTCCTCCTTGGCACAGCCCTGGTAGCTCCTGGCACTCATCCA2804071386FBN1c.4748-9_4748-8insGATGAGTGCCAGGAGCTACCAGGGCTGTGCCAAGGAGGAAA (n.4748-9_4748-8insGATGAGTGCCAGGAGCTACCAGGGCTGTGCCAAGGAGGAAA)
n.3422-9_3422-8insGATGAGTGCCAGGAGCTACCAGGGCTGTGCCAAGGAGGAAA
c.*511-9_*511-8insGATGAGTGCCAGGAGCTACCAGGGCTGTGCCAAGGAGGAAA (n.*511-9_*511-8insGATGAGTGCCAGGAGCTACCAGGGCTGTGCCAAGGAGGAAA)
c.55-9_55-8insGATGAGTGCCAGGAGCTACCAGGGCTGTGCCAAGGAGGAAA
15g.48465867A=CA2175517314FBN1c.4748-9T= (n.4748-9T=)
n.3422-9T=
c.*511-9T= (n.*511-9T=)
c.55-9T=
15g.48465867A>GCA053686FBN1c.4748-9T>C (n.4748-9T>C)
n.3422-9T>C
c.*511-9T>C (n.*511-9T>C)
c.55-9T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48465867A>TCA617840260FBN1c.4748-9T>A (n.4748-9T>A)
n.3422-9T>A
c.*511-9T>A (n.*511-9T>A)
c.55-9T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48465868delCA2628333648FBN1c.4748-10del (n.4748-10del)
n.3422-10del
c.*511-10del (n.*511-10del)
c.55-10del
 gnomAD v4
15g.48465868C=CA2175517315FBN1c.4748-10G= (n.4748-10G=)
n.3422-10G=
c.*511-10G= (n.*511-10G=)
c.55-10G=
15g.48465868C>GCA2175517316FBN1c.4748-10G>C (n.4748-10G>C)
n.3422-10G>C
c.*511-10G>C (n.*511-10G>C)
c.55-10G>C
 ClinVar dbSNP
15g.48465868C>TCA2175517317FBN1c.4748-10G>A (n.4748-10G>A)
n.3422-10G>A
c.*511-10G>A (n.*511-10G>A)
c.55-10G>A
 ClinVar dbSNP
15g.48465869A=CA2175517318FBN1c.4748-11T= (n.4748-11T=)
n.3422-11T=
c.*511-11T= (n.*511-11T=)
c.55-11T=
15g.48465869A>GCA053607FBN1c.4748-11T>C (n.4748-11T>C)
n.3422-11T>C
c.*511-11T>C (n.*511-11T>C)
c.55-11T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48465870A=CA2175517319FBN1c.4748-12T= (n.4748-12T=)
n.3422-12T=
c.*511-12T= (n.*511-12T=)
c.55-12T=
15g.48465870A>CCA2628333654FBN1c.4748-12T>G (n.4748-12T>G)
n.3422-12T>G
c.*511-12T>G (n.*511-12T>G)
c.55-12T>G
 gnomAD v4
15g.48465870A>TCA053611FBN1c.4748-12T>A (n.4748-12T>A)
n.3422-12T>A
c.*511-12T>A (n.*511-12T>A)
c.55-12T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48465872A>GCA2628333657FBN1c.4748-14T>C (n.4748-14T>C)
n.3422-14T>C
c.*511-14T>C (n.*511-14T>C)
c.55-14T>C
 gnomAD v4
15g.48465872_48465873insCCCCAAACACACCCAACACCA2804071387FBN1c.4748-15_4748-14insGTGTTGGGTGTGTTTGGGG (n.4748-15_4748-14insGTGTTGGGTGTGTTTGGGG)
n.3422-15_3422-14insGTGTTGGGTGTGTTTGGGG
c.*511-15_*511-14insGTGTTGGGTGTGTTTGGGG (n.*511-15_*511-14insGTGTTGGGTGTGTTTGGGG)
c.55-15_55-14insGTGTTGGGTGTGTTTGGGG
15g.48465873A>GCA2628333659FBN1c.4748-15T>C (n.4748-15T>C)
n.3422-15T>C
c.*511-15T>C (n.*511-15T>C)
c.55-15T>C
 gnomAD v4
15g.48465874T>CCA617840263FBN1c.4748-16A>G (n.4748-16A>G)
n.3422-16A>G
c.*511-16A>G (n.*511-16A>G)
c.55-16A>G
 dbSNP gnomAD v2 gnomAD v4
15g.48465874T=CA2175517320FBN1c.4748-16A= (n.4748-16A=)
n.3422-16A=
c.*511-16A= (n.*511-16A=)
c.55-16A=
15g.48465875T>CCA2628333661FBN1c.4748-17A>G (n.4748-17A>G)
n.3422-17A>G
c.*511-17A>G (n.*511-17A>G)
c.55-17A>G
 gnomAD v4
15g.48465876C>ACA2521792856FBN1c.4748-18G>T (n.4748-18G>T)
n.3422-18G>T
c.*511-18G>T (n.*511-18G>T)
c.55-18G>T
 gnomAD v4
15g.48465876C>TCA656135893FBN1c.4748-18G>A (n.4748-18G>A)
n.3422-18G>A
c.*511-18G>A (n.*511-18G>A)
c.55-18G>A
 COSMIC
15g.48465877A=CA2175517321FBN1c.4748-19T= (n.4748-19T=)
n.3422-19T=
c.*511-19T= (n.*511-19T=)
c.55-19T=
15g.48465877A>TCA617840264FBN1c.4748-19T>A (n.4748-19T>A)
n.3422-19T>A
c.*511-19T>A (n.*511-19T>A)
c.55-19T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48465878A=CA2175517322FBN1c.4748-20T= (n.4748-20T=)
n.3422-20T=
c.*511-20T= (n.*511-20T=)
c.55-20T=
15g.48465878A>GCA969558252FBN1c.4748-20T>C (n.4748-20T>C)
n.3422-20T>C
c.*511-20T>C (n.*511-20T>C)
c.55-20T>C
 dbSNP gnomAD v3 gnomAD v4
15g.48465878A>TCA2628333665FBN1c.4748-20T>A (n.4748-20T>A)
n.3422-20T>A
c.*511-20T>A (n.*511-20T>A)
c.55-20T>A
 gnomAD v4
15g.48465879A=CA2175517323FBN1c.4748-21T= (n.4748-21T=)
n.3422-21T=
c.*511-21T= (n.*511-21T=)
c.55-21T=
15g.48465879A>GCA2628333667FBN1c.4748-21T>C (n.4748-21T>C)
n.3422-21T>C
c.*511-21T>C (n.*511-21T>C)
c.55-21T>C
 gnomAD v4
15g.48465879A>TCA969558253FBN1c.4748-21T>A (n.4748-21T>A)
n.3422-21T>A
c.*511-21T>A (n.*511-21T>A)
c.55-21T>A
 dbSNP gnomAD v3 gnomAD v4
15g.48465880T>CCA053613FBN1c.4748-22A>G (n.4748-22A>G)
n.3422-22A>G
c.*511-22A>G (n.*511-22A>G)
c.55-22A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48465880T=CA2175517324FBN1c.4748-22A= (n.4748-22A=)
n.3422-22A=
c.*511-22A= (n.*511-22A=)
c.55-22A=
15g.48465881T>CCA2628333671FBN1c.4748-23A>G (n.4748-23A>G)
n.3422-23A>G
c.*511-23A>G (n.*511-23A>G)
c.55-23A>G
 gnomAD v4
15g.48465882G>ACA053621FBN1c.4748-24C>T (n.4748-24C>T)
n.3422-24C>T
c.*511-24C>T (n.*511-24C>T)
c.55-24C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48465882G>CCA713407429FBN1c.4748-24C>G (n.4748-24C>G)
n.3422-24C>G
c.*511-24C>G (n.*511-24C>G)
c.55-24C>G
 dbSNP gnomAD v3 gnomAD v4
15g.48465882G=CA2175517325FBN1c.4748-24C= (n.4748-24C=)
n.3422-24C=
c.*511-24C= (n.*511-24C=)
c.55-24C=
15g.48465882G>TCA617840265FBN1c.4748-24C>A (n.4748-24C>A)
n.3422-24C>A
c.*511-24C>A (n.*511-24C>A)
c.55-24C>A
 dbSNP gnomAD v2 gnomAD v4
15g.48465883A>GCA2628333702FBN1c.4748-25T>C (n.4748-25T>C)
n.3422-25T>C
c.*511-25T>C (n.*511-25T>C)
c.55-25T>C
 gnomAD v4
15g.48465884G>ACA2628333703FBN1c.4748-26C>T (n.4748-26C>T)
n.3422-26C>T
c.*511-26C>T (n.*511-26C>T)
c.55-26C>T
 gnomAD v4
15g.48465884G>TCA2575716972FBN1c.4748-26C>A (n.4748-26C>A)
n.3422-26C>A
c.*511-26C>A (n.*511-26C>A)
c.55-26C>A
 gnomAD v4
15g.48465885T>ACA2628333704FBN1c.4748-27A>T (n.4748-27A>T)
n.3422-27A>T
c.*511-27A>T (n.*511-27A>T)
c.55-27A>T
 gnomAD v4
15g.48465885T>CCA2628333705FBN1c.4748-27A>G (n.4748-27A>G)
n.3422-27A>G
c.*511-27A>G (n.*511-27A>G)
c.55-27A>G
 gnomAD v4
15g.48465886T>ACA2628333706FBN1c.4748-28A>T (n.4748-28A>T)
n.3422-28A>T
c.*511-28A>T (n.*511-28A>T)
c.55-28A>T
 gnomAD v4
15g.48465886_48465900delinsTGTTTTGAATCTAAACA2175517326FBN1c.4748-42_4748-28delinsTTTAGATTCAAAACA (n.4748-42_4748-28delinsTTTAGATTCAAAACA)
n.3422-42_3422-28delinsTTTAGATTCAAAACA
c.*511-42_*511-28delinsTTTAGATTCAAAACA (n.*511-42_*511-28delinsTTTAGATTCAAAACA)
c.55-42_55-28delinsTTTAGATTCAAAACA
15g.48465887G=CA2175517327FBN1c.4748-29C= (n.4748-29C=)
n.3422-29C=
c.*511-29C= (n.*511-29C=)
c.55-29C=
15g.48465887G>TCA617840266FBN1c.4748-29C>A (n.4748-29C>A)
n.3422-29C>A
c.*511-29C>A (n.*511-29C>A)
c.55-29C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48465892_48465905delCA617840268FBN1c.4748-42_4748-29del (n.4748-42_4748-29del)
n.3422-42_3422-29del
c.*511-42_*511-29del (n.*511-42_*511-29del)
c.55-42_55-29del
 dbSNP gnomAD v2 gnomAD v4
15g.48465888T>CCA053630FBN1c.4748-30A>G (n.4748-30A>G)
n.3422-30A>G
c.*511-30A>G (n.*511-30A>G)
c.55-30A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48465888T=CA2175517328FBN1c.4748-30A= (n.4748-30A=)
n.3422-30A=
c.*511-30A= (n.*511-30A=)
c.55-30A=
15g.48465889T>CCA2628333708FBN1c.4748-31A>G (n.4748-31A>G)
n.3422-31A>G
c.*511-31A>G (n.*511-31A>G)
c.55-31A>G
 gnomAD v4
15g.48465890T>CCA2628333710FBN1c.4748-32A>G (n.4748-32A>G)
n.3422-32A>G
c.*511-32A>G (n.*511-32A>G)
c.55-32A>G
 gnomAD v4
15g.48465891T>CCA2628333712FBN1c.4748-33A>G (n.4748-33A>G)
n.3422-33A>G
c.*511-33A>G (n.*511-33A>G)
c.55-33A>G
 gnomAD v4
15g.48465892G>ACA2628333715FBN1c.4748-34C>T (n.4748-34C>T)
n.3422-34C>T
c.*511-34C>T (n.*511-34C>T)
c.55-34C>T
 gnomAD v4
15g.48465892G>CCA053637FBN1c.4748-34C>G (n.4748-34C>G)
n.3422-34C>G
c.*511-34C>G (n.*511-34C>G)
c.55-34C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48465892G=CA2175517329FBN1c.4748-34C= (n.4748-34C=)
n.3422-34C=
c.*511-34C= (n.*511-34C=)
c.55-34C=
15g.48465892G>TCA2628333717FBN1c.4748-34C>A (n.4748-34C>A)
n.3422-34C>A
c.*511-34C>A (n.*511-34C>A)
c.55-34C>A
 gnomAD v4
15g.48465893A=CA2175517330FBN1c.4748-35T= (n.4748-35T=)
n.3422-35T=
c.*511-35T= (n.*511-35T=)
c.55-35T=
15g.48465893A>GCA969558258FBN1c.4748-35T>C (n.4748-35T>C)
n.3422-35T>C
c.*511-35T>C (n.*511-35T>C)
c.55-35T>C
 dbSNP gnomAD v3 gnomAD v4
15g.48465893_48465901delinsAATCTAAAGCA2175517331FBN1c.4748-43_4748-35delinsCTTTAGATT (n.4748-43_4748-35delinsCTTTAGATT)
n.3422-43_3422-35delinsCTTTAGATT
c.*511-43_*511-35delinsCTTTAGATT (n.*511-43_*511-35delinsCTTTAGATT)
c.55-43_55-35delinsCTTTAGATT
15g.48465894A=CA2175517332FBN1c.4748-36T= (n.4748-36T=)
n.3422-36T=
c.*511-36T= (n.*511-36T=)
c.55-36T=
15g.48465894A>GCA2175517333FBN1c.4748-36T>C (n.4748-36T>C)
n.3422-36T>C
c.*511-36T>C (n.*511-36T>C)
c.55-36T>C
 dbSNP
15g.48465894_48465901delCA2175517334FBN1c.4748-43_4748-36del (n.4748-43_4748-36del)
n.3422-43_3422-36del
c.*511-43_*511-36del (n.*511-43_*511-36del)
c.55-43_55-36del
 dbSNP
15g.48465895T>CCA2628333718FBN1c.4748-37A>G (n.4748-37A>G)
n.3422-37A>G
c.*511-37A>G (n.*511-37A>G)
c.55-37A>G
 gnomAD v4
15g.48465895T>GCA2175517336FBN1c.4748-37A>C (n.4748-37A>C)
n.3422-37A>C
c.*511-37A>C (n.*511-37A>C)
c.55-37A>C
 dbSNP
15g.48465895T=CA2175517335FBN1c.4748-37A= (n.4748-37A=)
n.3422-37A=
c.*511-37A= (n.*511-37A=)
c.55-37A=
15g.48465896C=CA2175517337FBN1c.4748-38G= (n.4748-38G=)
n.3422-38G=
c.*511-38G= (n.*511-38G=)
c.55-38G=
15g.48465896C>GCA053642FBN1c.4748-38G>C (n.4748-38G>C)
n.3422-38G>C
c.*511-38G>C (n.*511-38G>C)
c.55-38G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48465896C>TCA2175517338FBN1c.4748-38G>A (n.4748-38G>A)
n.3422-38G>A
c.*511-38G>A (n.*511-38G>A)
c.55-38G>A
 dbSNP
15g.48465896_48465910delinsCTAAAGTTTTTAGAACA2175517339FBN1c.4748-52_4748-38delinsTTCTAAAAACTTTAG (n.4748-52_4748-38delinsTTCTAAAAACTTTAG)
n.3422-52_3422-38delinsTTCTAAAAACTTTAG
c.*511-52_*511-38delinsTTCTAAAAACTTTAG (n.*511-52_*511-38delinsTTCTAAAAACTTTAG)
c.55-52_55-38delinsTTCTAAAAACTTTAG
15g.48465897T>ACA2628333722FBN1c.4748-39A>T (n.4748-39A>T)
n.3422-39A>T
c.*511-39A>T (n.*511-39A>T)
c.55-39A>T
 gnomAD v4
15g.48465897_48465910delCA617840273FBN1c.4748-52_4748-39del (n.4748-52_4748-39del)
n.3422-52_3422-39del
c.*511-52_*511-39del (n.*511-52_*511-39del)
c.55-52_55-39del
 dbSNP gnomAD v2 gnomAD v4
15g.48465898A=CA2175517340FBN1c.4748-40T= (n.4748-40T=)
n.3422-40T=
c.*511-40T= (n.*511-40T=)
c.55-40T=
15g.48465898A>CCA2575716974FBN1c.4748-40T>G (n.4748-40T>G)
n.3422-40T>G
c.*511-40T>G (n.*511-40T>G)
c.55-40T>G
15g.48465898A>GCA969558259FBN1c.4748-40T>C (n.4748-40T>C)
n.3422-40T>C
c.*511-40T>C (n.*511-40T>C)
c.55-40T>C
 dbSNP gnomAD v3 gnomAD v4
15g.48465900A>GCA2804071388FBN1c.4748-42T>C (n.4748-42T>C)
n.3422-42T>C
c.*511-42T>C (n.*511-42T>C)
c.55-42T>C
15g.48465901G>ACA2628333725FBN1c.4748-43C>T (n.4748-43C>T)
n.3422-43C>T
c.*511-43C>T (n.*511-43C>T)
c.55-43C>T
 gnomAD v4
15g.48465902T>ACA269549855FBN1c.4748-44A>T (n.4748-44A>T)
n.3422-44A>T
c.*511-44A>T (n.*511-44A>T)
c.55-44A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48465902T>CCA2628333729FBN1c.4748-44A>G (n.4748-44A>G)
n.3422-44A>G
c.*511-44A>G (n.*511-44A>G)
c.55-44A>G
 gnomAD v4
15g.48465902T>GCA053660FBN1c.4748-44A>C (n.4748-44A>C)
n.3422-44A>C
c.*511-44A>C (n.*511-44A>C)
c.55-44A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48465902T=CA2175517341FBN1c.4748-44A= (n.4748-44A=)
n.3422-44A=
c.*511-44A= (n.*511-44A=)
c.55-44A=
15g.48465906delCA2628333726FBN1c.4748-44del (n.4748-44del)
n.3422-44del
c.*511-44del (n.*511-44del)
c.55-44del
 gnomAD v4
15g.48465905_48465906delCA2628333727FBN1c.4748-45_4748-44del (n.4748-45_4748-44del)
n.3422-45_3422-44del
c.*511-45_*511-44del (n.*511-45_*511-44del)
c.55-45_55-44del
 gnomAD v4
15g.48465903T>CCA2628333732FBN1c.4748-45A>G (n.4748-45A>G)
n.3422-45A>G
c.*511-45A>G (n.*511-45A>G)
c.55-45A>G
 gnomAD v4
15g.48465903T>GCA053666FBN1c.4748-45A>C (n.4748-45A>C)
n.3422-45A>C
c.*511-45A>C (n.*511-45A>C)
c.55-45A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48465903T=CA2175517342FBN1c.4748-45A= (n.4748-45A=)
n.3422-45A=
c.*511-45A= (n.*511-45A=)
c.55-45A=
15g.48465904T>CCA2628333735FBN1c.4748-46A>G (n.4748-46A>G)
n.3422-46A>G
c.*511-46A>G (n.*511-46A>G)
c.55-46A>G
 gnomAD v4
15g.48465905T>CCA2628333737FBN1c.4748-47A>G (n.4748-47A>G)
n.3422-47A>G
c.*511-47A>G (n.*511-47A>G)
c.55-47A>G
 gnomAD v4
15g.48465905T=CA2175517343FBN1c.4748-47A= (n.4748-47A=)
n.3422-47A=
c.*511-47A= (n.*511-47A=)
c.55-47A=
15g.48465905_48465906insGACA2175517344FBN1c.4748-48_4748-47insTC (n.4748-48_4748-47insTC)
n.3422-48_3422-47insTC
c.*511-48_*511-47insTC (n.*511-48_*511-47insTC)
c.55-48_55-47insTC
 dbSNP
15g.48465906T>ACA2804071389FBN1c.4748-48A>T (n.4748-48A>T)
n.3422-48A>T
c.*511-48A>T (n.*511-48A>T)
c.55-48A>T
15g.48465906T>GCA2628333739FBN1c.4748-48A>C (n.4748-48A>C)
n.3422-48A>C
c.*511-48A>C (n.*511-48A>C)
c.55-48A>C
 gnomAD v4
15g.48465908G>ACA617840277FBN1c.4748-50C>T (n.4748-50C>T)
n.3422-50C>T
c.*511-50C>T (n.*511-50C>T)
c.55-50C>T
 dbSNP gnomAD v2 gnomAD v4
15g.48465908G=CA2175517345FBN1c.4748-50C= (n.4748-50C=)
n.3422-50C=
c.*511-50C= (n.*511-50C=)
c.55-50C=
15g.48465908G>TCA2628333742FBN1c.4748-50C>A (n.4748-50C>A)
n.3422-50C>A
c.*511-50C>A (n.*511-50C>A)
c.55-50C>A
 gnomAD v4
15g.48465908_48465910delinsGAACA2175517346FBN1c.4748-52_4748-50delinsTTC (n.4748-52_4748-50delinsTTC)
n.3422-52_3422-50delinsTTC
c.*511-52_*511-50delinsTTC (n.*511-52_*511-50delinsTTC)
c.55-52_55-50delinsTTC
15g.48465910_48465911delCA2175517347FBN1c.4748-52_4748-51del (n.4748-52_4748-51del)
n.3422-52_3422-51del
c.*511-52_*511-51del (n.*511-52_*511-51del)
c.55-52_55-51del
 dbSNP
15g.48465910A=CA2175517348FBN1c.4748-52T= (n.4748-52T=)
n.3422-52T=
c.*511-52T= (n.*511-52T=)
c.55-52T=
15g.48465910A>GCA053675FBN1c.4748-52T>C (n.4748-52T>C)
n.3422-52T>C
c.*511-52T>C (n.*511-52T>C)
c.55-52T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48465911A=CA2175517349FBN1c.4748-53T= (n.4748-53T=)
n.3422-53T=
c.*511-53T= (n.*511-53T=)
c.55-53T=
15g.48465911A>GCA713407450FBN1c.4748-53T>C (n.4748-53T>C)
n.3422-53T>C
c.*511-53T>C (n.*511-53T>C)
c.55-53T>C
 dbSNP
15g.48465913A=CA2175517350FBN1c.4748-55T= (n.4748-55T=)
n.3422-55T=
c.*511-55T= (n.*511-55T=)
c.55-55T=
15g.48465913A>GCA2175517351FBN1c.4748-55T>C (n.4748-55T>C)
n.3422-55T>C
c.*511-55T>C (n.*511-55T>C)
c.55-55T>C
 dbSNP
15g.48465914G>CCA2628333749FBN1c.4748-56C>G (n.4748-56C>G)
n.3422-56C>G
c.*511-56C>G (n.*511-56C>G)
c.55-56C>G
 gnomAD v4
15g.48465914G>TCA2628333750FBN1c.4748-56C>A (n.4748-56C>A)
n.3422-56C>A
c.*511-56C>A (n.*511-56C>A)
c.55-56C>A
 gnomAD v4
15g.48465915T>ACA2628333751FBN1c.4748-57A>T (n.4748-57A>T)
n.3422-57A>T
c.*511-57A>T (n.*511-57A>T)
c.55-57A>T
 gnomAD v4
15g.48465915T>CCA2175517353FBN1c.4748-57A>G (n.4748-57A>G)
n.3422-57A>G
c.*511-57A>G (n.*511-57A>G)
c.55-57A>G
 dbSNP gnomAD v4
15g.48465915T=CA2175517352FBN1c.4748-57A= (n.4748-57A=)
n.3422-57A=
c.*511-57A= (n.*511-57A=)
c.55-57A=
15g.48465916A>GCA2628333753FBN1c.4748-58T>C (n.4748-58T>C)
n.3422-58T>C
c.*511-58T>C (n.*511-58T>C)
c.55-58T>C
 gnomAD v4
15g.48465917T>CCA713407451FBN1c.4748-59A>G (n.4748-59A>G)
n.3422-59A>G
c.*511-59A>G (n.*511-59A>G)
c.55-59A>G
 dbSNP gnomAD v3 gnomAD v4
15g.48465917T=CA2175517354FBN1c.4748-59A= (n.4748-59A=)
n.3422-59A=
c.*511-59A= (n.*511-59A=)
c.55-59A=
15g.48465918C>ACA2628333757FBN1c.4748-60G>T (n.4748-60G>T)
n.3422-60G>T
c.*511-60G>T (n.*511-60G>T)
c.55-60G>T
 gnomAD v4
15g.48465918C>GCA2628333760FBN1c.4748-60G>C (n.4748-60G>C)
n.3422-60G>C
c.*511-60G>C (n.*511-60G>C)
c.55-60G>C
 gnomAD v4
15g.48465918C>TCA2628333759FBN1c.4748-60G>A (n.4748-60G>A)
n.3422-60G>A
c.*511-60G>A (n.*511-60G>A)
c.55-60G>A
 gnomAD v4
15g.48465919C>ACA2628333762FBN1c.4748-61G>T (n.4748-61G>T)
n.3422-61G>T
c.*511-61G>T (n.*511-61G>T)
c.55-61G>T
 gnomAD v4
15g.48465920T>CCA969558262FBN1c.4748-62A>G (n.4748-62A>G)
n.3422-62A>G
c.*511-62A>G (n.*511-62A>G)
c.55-62A>G
 dbSNP gnomAD v3 gnomAD v4
15g.48465920T=CA2175517355FBN1c.4748-62A= (n.4748-62A=)
n.3422-62A=
c.*511-62A= (n.*511-62A=)
c.55-62A=

Number of alleles fetched