Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.48483833_48483840delCA2580089557FBN1c.3823_3830del (p.Met1275LeufsTer6)
n.2497_2504del
c.637-9183_637-9176del (n.637-9183_637-9176del)
ClinVar
15g.48483831C>ACA392323599FBN1c.3825G>T (p.Met1275Ile)
n.2499G>T
c.637-9181G>T (n.637-9181G>T)
15g.48483831C>GCA392323601FBN1c.3825G>C (p.Met1275Ile)
n.2499G>C
c.637-9181G>C (n.637-9181G>C)
15g.48483831C>TCA392323604FBN1c.3825G>A (p.Met1275Ile)
n.2499G>A
c.637-9181G>A (n.637-9181G>A)
15g.48483832A>CCA392323606FBN1c.3824T>G (p.Met1275Arg)
n.2498T>G
c.637-9182T>G (n.637-9182T>G)
15g.48483832A>GCA392323608FBN1c.3824T>C (p.Met1275Thr)
n.2498T>C
c.637-9182T>C (n.637-9182T>C)
15g.48483832A>TCA392323616FBN1c.3824T>A (p.Met1275Lys)
n.2498T>A
c.637-9182T>A (n.637-9182T>A)
15g.48483833T>ACA392323618FBN1c.3823A>T (p.Met1275Leu)
n.2497A>T
c.637-9183A>T (n.637-9183A>T)
15g.48483833T>CCA392323622FBN1c.3823A>G (p.Met1275Val)
n.2497A>G
c.637-9183A>G (n.637-9183A>G)
ClinVar dbSNP
15g.48483833T>GCA051554FBN1c.3823A>C (p.Met1275Leu)
n.2497A>C
c.637-9183A>C (n.637-9183A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.48483833T=CA2175509397FBN1c.3823A= (p.Met1275=)
n.2497A=
c.637-9183A= (n.637-9183A=)
15g.48483834G>ACA490016943FBN1c.3822C>T (p.Asp1274=)
n.2496C>T
c.637-9184C>T (n.637-9184C>T)
15g.48483834G>CCA392323624FBN1c.3822C>G (p.Asp1274Glu)
n.2496C>G
c.637-9184C>G (n.637-9184C>G)
15g.48483834G>TCA392323625FBN1c.3822C>A (p.Asp1274Glu)
n.2496C>A
c.637-9184C>A (n.637-9184C>A)
gnomAD v4
15g.48483835delCA2580089559FBN1c.3821del (p.Asp1274AlafsTer2)
n.2495del
c.637-9185del (n.637-9185del)
ClinVar
15g.48483835T>ACA392323628FBN1c.3821A>T (p.Asp1274Val)
n.2495A>T
c.637-9185A>T (n.637-9185A>T)
15g.48483835T>CCA392323630FBN1c.3821A>G (p.Asp1274Gly)
n.2495A>G
c.637-9185A>G (n.637-9185A>G)
gnomAD v4
15g.48483835T>GCA392323631FBN1c.3821A>C (p.Asp1274Ala)
n.2495A>C
c.637-9185A>C (n.637-9185A>C)
15g.48483836C>ACA392323632FBN1c.3820G>T (p.Asp1274Tyr)
n.2494G>T
c.637-9186G>T (n.637-9186G>T)
15g.48483836C>GCA392323633FBN1c.3820G>C (p.Asp1274His)
n.2494G>C
c.637-9186G>C (n.637-9186G>C)
15g.48483836C>TCA392323635FBN1c.3820G>A (p.Asp1274Asn)
n.2494G>A
c.637-9186G>A (n.637-9186G>A)
15g.48483837T>ACA392323637FBN1c.3819A>T (p.Glu1273Asp)
n.2493A>T
c.637-9187A>T (n.637-9187A>T)
15g.48483837T>CCA490016953FBN1c.3819A>G (p.Glu1273=)
n.2493A>G
c.637-9187A>G (n.637-9187A>G)
15g.48483837T>GCA392323639FBN1c.3819A>C (p.Glu1273Asp)
n.2493A>C
c.637-9187A>C (n.637-9187A>C)
15g.48483838T>ACA392323644FBN1c.3818A>T (p.Glu1273Val)
n.2492A>T
c.637-9188A>T (n.637-9188A>T)
15g.48483838T>CCA392323641FBN1c.3818A>G (p.Glu1273Gly)
n.2492A>G
c.637-9188A>G (n.637-9188A>G)
15g.48483838T>GCA392323642FBN1c.3818A>C (p.Glu1273Ala)
n.2492A>C
c.637-9188A>C (n.637-9188A>C)
15g.48483839C>ACA392323647FBN1c.3817G>T (p.Glu1273Ter)
n.2491G>T
c.637-9189G>T (n.637-9189G>T)
15g.48483839C>GCA392323658FBN1c.3817G>C (p.Glu1273Gln)
n.2491G>C
c.637-9189G>C (n.637-9189G>C)
15g.48483839C>TCA392323655FBN1c.3817G>A (p.Glu1273Lys)
n.2491G>A
c.637-9189G>A (n.637-9189G>A)
15g.48483840delCA2573150789FBN1c.3816del (p.Glu1273LysfsTer3)
n.2490del
c.637-9190del (n.637-9190del)
ClinVar dbSNP
15g.48483840A>CCA490016960FBN1c.3816T>G (p.Ser1272=)
n.2490T>G
c.637-9190T>G (n.637-9190T>G)
15g.48483840A>GCA490016961FBN1c.3816T>C (p.Ser1272=)
n.2490T>C
c.637-9190T>C (n.637-9190T>C)
15g.48483840A>TCA490016962FBN1c.3816T>A (p.Ser1272=)
n.2490T>A
c.637-9190T>A (n.637-9190T>A)
15g.48483840_48483841delinsAGCA2175509406FBN1c.3815_3816delinsCT (p.Ser1272=)
n.2489_2490delinsCT
c.637-9191_637-9190delinsCT (n.637-9191_637-9190delinsCT)
15g.48483841delCA658798366FBN1c.3815del (p.Ser1272LeufsTer4)
n.2489del
c.637-9191del (n.637-9191del)
ClinVar dbSNP
15g.48483841G>ACA392323661FBN1c.3815C>T (p.Ser1272Phe)
n.2489C>T
c.637-9191C>T (n.637-9191C>T)
15g.48483841G>CCA392323663FBN1c.3815C>G (p.Ser1272Cys)
n.2489C>G
c.637-9191C>G (n.637-9191C>G)
15g.48483841G=CA2175509415FBN1c.3815C= (p.Ser1272=)
n.2489C=
c.637-9191C= (n.637-9191C=)
15g.48483841G>TCA392323665FBN1c.3815C>A (p.Ser1272Tyr)
n.2489C>A
c.637-9191C>A (n.637-9191C>A)
ClinVar dbSNP
15g.48483842A>CCA392323668FBN1c.3814T>G (p.Ser1272Ala)
n.2488T>G
c.637-9192T>G (n.637-9192T>G)
15g.48483842A>GCA392323671FBN1c.3814T>C (p.Ser1272Pro)
n.2488T>C
c.637-9192T>C (n.637-9192T>C)
15g.48483842A>TCA392323673FBN1c.3814T>A (p.Ser1272Thr)
n.2488T>A
c.637-9192T>A (n.637-9192T>A)
15g.48483843T>ACA490016970FBN1c.3813A>T (p.Ala1271=)
n.2487A>T
c.637-9193A>T (n.637-9193A>T)
gnomAD v4
15g.48483843T>CCA490016973FBN1c.3813A>G (p.Ala1271=)
n.2487A>G
c.637-9193A>G (n.637-9193A>G)
15g.48483843T>GCA490016975FBN1c.3813A>C (p.Ala1271=)
n.2487A>C
c.637-9193A>C (n.637-9193A>C)
15g.48483844G>ACA392323680FBN1c.3812C>T (p.Ala1271Val)
n.2486C>T
c.637-9194C>T (n.637-9194C>T)
15g.48483844G>CCA392323678FBN1c.3812C>G (p.Ala1271Gly)
n.2486C>G
c.637-9194C>G (n.637-9194C>G)
15g.48483844G>TCA392323676FBN1c.3812C>A (p.Ala1271Glu)
n.2486C>A
c.637-9194C>A (n.637-9194C>A)
15g.48483845C>ACA392323683FBN1c.3811G>T (p.Ala1271Ser)
n.2485G>T
c.637-9195G>T (n.637-9195G>T)
gnomAD v4

Number of alleles fetched