Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48534179_48534187delinsCGGGGATGG | CA2175536913 | FBN1 | c.755_763delinsCCATCCCCG (p.Ala252=) c.636+3524_636+3532delinsCCATCCCCG (n.636+3524_636+3532delinsCCATCCCCG) | |
15 | g.48534183dup | CA913188647 | FBN1 | c.762dup (p.Gly255ArgfsTer10) c.636+3531dup (n.636+3531dup) | |
15 | g.48534183del | CA16619977 | FBN1 | c.762del (p.Leu256SerfsTer?) c.636+3531del (n.636+3531del) | ClinVar dbSNP |
15 | g.48534180_48534187del | CA916082427 | FBN1 | c.755_762del (p.Ala252GlyfsTer10) c.636+3524_636+3531del (n.636+3524_636+3531del) | ClinVar dbSNP |
15 | g.48534183G>A | CA490028702 | FBN1 | c.759C>T (p.Ile253=) c.636+3528C>T (n.636+3528C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48534183G>C | CA392352757 | FBN1 | c.759C>G (p.Ile253Met) c.636+3528C>G (n.636+3528C>G) | |
15 | g.48534183G= | CA2175536917 | FBN1 | c.759C= (p.Ile253=) c.636+3528C= (n.636+3528C=) | |
15 | g.48534183G>T | CA490028703 | FBN1 | c.759C>A (p.Ile253=) c.636+3528C>A (n.636+3528C>A) | |
15 | g.48534184A>C | CA392352764 | FBN1 | c.758T>G (p.Ile253Ser) c.636+3527T>G (n.636+3527T>G) | |
15 | g.48534184A>G | CA392352762 | FBN1 | c.758T>C (p.Ile253Thr) c.636+3527T>C (n.636+3527T>C) | |
15 | g.48534184A>T | CA392352766 | FBN1 | c.758T>A (p.Ile253Asn) c.636+3527T>A (n.636+3527T>A) | |
15 | g.48534185T>A | CA392352767 | FBN1 | c.757A>T (p.Ile253Phe) c.636+3526A>T (n.636+3526A>T) | |
15 | g.48534185T>C | CA392352768 | FBN1 | c.757A>G (p.Ile253Val) c.636+3526A>G (n.636+3526A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48534185T>G | CA392352769 | FBN1 | c.757A>C (p.Ile253Leu) c.636+3526A>C (n.636+3526A>C) | |
15 | g.48534185T= | CA2175536918 | FBN1 | c.757A= (p.Ile253=) c.636+3526A= (n.636+3526A=) | |
15 | g.48534186G>A | CA490028706 | FBN1 | c.756C>T (p.Ala252=) c.636+3525C>T (n.636+3525C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48534186G>C | CA490028704 | FBN1 | c.756C>G (p.Ala252=) c.636+3525C>G (n.636+3525C>G) | |
15 | g.48534186G= | CA2175536919 | FBN1 | c.756C= (p.Ala252=) c.636+3525C= (n.636+3525C=) | |
15 | g.48534186G>T | CA490028705 | FBN1 | c.756C>A (p.Ala252=) c.636+3525C>A (n.636+3525C>A) | dbSNP |
15 | g.48534187G>A | CA392352771 | FBN1 | c.755C>T (p.Ala252Val) c.636+3524C>T (n.636+3524C>T) | |
15 | g.48534187G>C | CA392352773 | FBN1 | c.755C>G (p.Ala252Gly) c.636+3524C>G (n.636+3524C>G) | |
15 | g.48534187G= | CA2175536920 | FBN1 | c.755C= (p.Ala252=) c.636+3524C= (n.636+3524C=) | |
15 | g.48534187G>T | CA392352779 | FBN1 | c.755C>A (p.Ala252Asp) c.636+3524C>A (n.636+3524C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48534188C>A | CA392352785 | FBN1 | c.754G>T (p.Ala252Ser) c.636+3523G>T (n.636+3523G>T) | |
15 | g.48534188C= | CA2175536921 | FBN1 | c.754G= (p.Ala252=) c.636+3523G= (n.636+3523G=) | |
15 | g.48534188C>G | CA392352782 | FBN1 | c.754G>C (p.Ala252Pro) c.636+3523G>C (n.636+3523G>C) | |
15 | g.48534188C>T | CA392352784 | FBN1 | c.754G>A (p.Ala252Thr) c.636+3523G>A (n.636+3523G>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48534189dup | CA1139663905 | FBN1 | c.754dup (p.Ala252GlyfsTer13) c.636+3523dup (n.636+3523dup) | ClinVar dbSNP |
15 | g.48534189C>A | CA392352790 | FBN1 | c.753G>T (p.Gln251His) c.636+3522G>T (n.636+3522G>T) | |
15 | g.48534189C>G | CA392352792 | FBN1 | c.753G>C (p.Gln251His) c.636+3522G>C (n.636+3522G>C) | |
15 | g.48534189C>T | CA490028707 | FBN1 | c.753G>A (p.Gln251=) c.636+3522G>A (n.636+3522G>A) | |
15 | g.48534190T>A | CA392352794 | FBN1 | c.752A>T (p.Gln251Leu) c.636+3521A>T (n.636+3521A>T) | |
15 | g.48534190T>C | CA392352797 | FBN1 | c.752A>G (p.Gln251Arg) c.636+3521A>G (n.636+3521A>G) | |
15 | g.48534190T>G | CA392352799 | FBN1 | c.752A>C (p.Gln251Pro) c.636+3521A>C (n.636+3521A>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48534190T= | CA2175536922 | FBN1 | c.752A= (p.Gln251=) c.636+3521A= (n.636+3521A=) | |
15 | g.48534191G>A | CA392352802 | FBN1 | c.751C>T (p.Gln251Ter) c.636+3520C>T (n.636+3520C>T) | |
15 | g.48534191G>C | CA392352807 | FBN1 | c.751C>G (p.Gln251Glu) c.636+3520C>G (n.636+3520C>G) | |
15 | g.48534191G>T | CA392352805 | FBN1 | c.751C>A (p.Gln251Lys) c.636+3520C>A (n.636+3520C>A) | gnomAD v4 |
15 | g.48534192G>A | CA490028708 | FBN1 | c.750C>T (p.Cys250=) c.636+3519C>T (n.636+3519C>T) | ClinVar gnomAD v4 |
15 | g.48534192G>C | CA392352810 | FBN1 | c.750C>G (p.Cys250Trp) c.636+3519C>G (n.636+3519C>G) | |
15 | g.48534192G>T | CA392352813 | FBN1 | c.750C>A (p.Cys250Ter) c.636+3519C>A (n.636+3519C>A) | |
15 | g.48534193C>A | CA392352817 | FBN1 | c.749G>T (p.Cys250Phe) c.636+3518G>T (n.636+3518G>T) | gnomAD v4 |
15 | g.48534193C= | CA2175536923 | FBN1 | c.749G= (p.Cys250=) c.636+3518G= (n.636+3518G=) | |
15 | g.48534193C>G | CA392352819 | FBN1 | c.749G>C (p.Cys250Ser) c.636+3518G>C (n.636+3518G>C) | |
15 | g.48534193C>T | CA392352822 | FBN1 | c.749G>A (p.Cys250Tyr) c.636+3518G>A (n.636+3518G>A) | |
15 | g.48534193_48534194insGG | CA916082428 | FBN1 | c.748_749insCC (p.Cys250SerfsTer?) c.636+3517_636+3518insCC (n.636+3517_636+3518insCC) | ClinVar dbSNP |
15 | g.48534194A= | CA2175536924 | FBN1 | c.748T= (p.Cys250=) c.636+3517T= (n.636+3517T=) | |
15 | g.48534194A>C | CA392352824 | FBN1 | c.748T>G (p.Cys250Gly) c.636+3517T>G (n.636+3517T>G) | |
15 | g.48534194A>G | CA392352827 | FBN1 | c.748T>C (p.Cys250Arg) c.636+3517T>C (n.636+3517T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48534194A>T | CA392352829 | FBN1 | c.748T>A (p.Cys250Ser) c.636+3517T>A (n.636+3517T>A) |