Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.128337965G>A | CA2675117518 | FBN2 | n.382+32C>T n.463+32C>T c.3598+32C>T (n.3598+32C>T) c.148+32C>T (n.148+32C>T) c.3499+32C>T (n.3499+32C>T) c.3595+32C>T (n.3595+32C>T) c.3445+32C>T (n.3445+32C>T) | gnomAD v4 |
5 | g.128337967C>A | CA2675117519 | FBN2 | n.382+30G>T n.463+30G>T c.3598+30G>T (n.3598+30G>T) c.148+30G>T (n.148+30G>T) c.3499+30G>T (n.3499+30G>T) c.3595+30G>T (n.3595+30G>T) c.3445+30G>T (n.3445+30G>T) | gnomAD v4 |
5 | g.128337967C>T | CA2675117520 | FBN2 | n.382+30G>A n.463+30G>A c.3598+30G>A (n.3598+30G>A) c.148+30G>A (n.148+30G>A) c.3499+30G>A (n.3499+30G>A) c.3595+30G>A (n.3595+30G>A) c.3445+30G>A (n.3445+30G>A) | gnomAD v4 |
5 | g.128337972_128337973dup | CA2675117521 | FBN2 | n.382+25_382+26dup n.463+25_463+26dup c.3598+25_3598+26dup (n.3598+25_3598+26dup) c.148+25_148+26dup (n.148+25_148+26dup) c.3499+25_3499+26dup (n.3499+25_3499+26dup) c.3595+25_3595+26dup (n.3595+25_3595+26dup) c.3445+25_3445+26dup (n.3445+25_3445+26dup) | gnomAD v4 |
5 | g.128337972T>A | CA1581270706 | FBN2 | n.382+25A>T n.463+25A>T c.3598+25A>T (n.3598+25A>T) c.148+25A>T (n.148+25A>T) c.3499+25A>T (n.3499+25A>T) c.3595+25A>T (n.3595+25A>T) c.3445+25A>T (n.3445+25A>T) | dbSNP gnomAD v4 |
5 | g.128337972T= | CA1581270705 | FBN2 | n.382+25A= n.463+25A= c.3598+25A= (n.3598+25A=) c.148+25A= (n.148+25A=) c.3499+25A= (n.3499+25A=) c.3595+25A= (n.3595+25A=) c.3445+25A= (n.3445+25A=) | |
5 | g.128337974A= | CA1581270707 | FBN2 | n.382+23T= n.463+23T= c.3598+23T= (n.3598+23T=) c.148+23T= (n.148+23T=) c.3499+23T= (n.3499+23T=) c.3595+23T= (n.3595+23T=) c.3445+23T= (n.3445+23T=) | |
5 | g.128337974A>C | CA3395189 | FBN2 | n.382+23T>G n.463+23T>G c.3598+23T>G (n.3598+23T>G) c.148+23T>G (n.148+23T>G) c.3499+23T>G (n.3499+23T>G) c.3595+23T>G (n.3595+23T>G) c.3445+23T>G (n.3445+23T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128337974A>T | CA650271641 | FBN2 | n.382+23T>A n.463+23T>A c.3598+23T>A (n.3598+23T>A) c.148+23T>A (n.148+23T>A) c.3499+23T>A (n.3499+23T>A) c.3595+23T>A (n.3595+23T>A) c.3445+23T>A (n.3445+23T>A) | COSMIC |
5 | g.128337975T>C | CA3395190 | FBN2 | n.382+22A>G n.463+22A>G c.3598+22A>G (n.3598+22A>G) c.148+22A>G (n.148+22A>G) c.3499+22A>G (n.3499+22A>G) c.3595+22A>G (n.3595+22A>G) c.3445+22A>G (n.3445+22A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128337975T= | CA1581270708 | FBN2 | n.382+22A= n.463+22A= c.3598+22A= (n.3598+22A=) c.148+22A= (n.148+22A=) c.3499+22A= (n.3499+22A=) c.3595+22A= (n.3595+22A=) c.3445+22A= (n.3445+22A=) | |
5 | g.128337976G>A | CA803638565 | FBN2 | n.382+21C>T n.463+21C>T c.3598+21C>T (n.3598+21C>T) c.148+21C>T (n.148+21C>T) c.3499+21C>T (n.3499+21C>T) c.3595+21C>T (n.3595+21C>T) c.3445+21C>T (n.3445+21C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128337976G= | CA1581270709 | FBN2 | n.382+21C= n.463+21C= c.3598+21C= (n.3598+21C=) c.148+21C= (n.148+21C=) c.3499+21C= (n.3499+21C=) c.3595+21C= (n.3595+21C=) c.3445+21C= (n.3445+21C=) | |
5 | g.128337978G>A | CA2604174345 | FBN2 | n.382+19C>T n.463+19C>T c.3598+19C>T (n.3598+19C>T) c.148+19C>T (n.148+19C>T) c.3499+19C>T (n.3499+19C>T) c.3595+19C>T (n.3595+19C>T) c.3445+19C>T (n.3445+19C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128337978G>T | CA2709958045 | FBN2 | n.382+19C>A n.463+19C>A c.3598+19C>A (n.3598+19C>A) c.148+19C>A (n.148+19C>A) c.3499+19C>A (n.3499+19C>A) c.3595+19C>A (n.3595+19C>A) c.3445+19C>A (n.3445+19C>A) | dbSNP |
5 | g.128337980T>C | CA2675117522 | FBN2 | n.382+17A>G n.463+17A>G c.3598+17A>G (n.3598+17A>G) c.148+17A>G (n.148+17A>G) c.3499+17A>G (n.3499+17A>G) c.3595+17A>G (n.3595+17A>G) c.3445+17A>G (n.3445+17A>G) | gnomAD v4 |
5 | g.128337981G>A | CA2578444149 | FBN2 | n.382+16C>T n.463+16C>T c.3598+16C>T (n.3598+16C>T) c.148+16C>T (n.148+16C>T) c.3499+16C>T (n.3499+16C>T) c.3595+16C>T (n.3595+16C>T) c.3445+16C>T (n.3445+16C>T) | |
5 | g.128337981G>T | CA2675117523 | FBN2 | n.382+16C>A n.463+16C>A c.3598+16C>A (n.3598+16C>A) c.148+16C>A (n.148+16C>A) c.3499+16C>A (n.3499+16C>A) c.3595+16C>A (n.3595+16C>A) c.3445+16C>A (n.3445+16C>A) | gnomAD v4 |
5 | g.128337983G>T | CA2568632814 | FBN2 | n.382+14C>A n.463+14C>A c.3598+14C>A (n.3598+14C>A) c.148+14C>A (n.148+14C>A) c.3499+14C>A (n.3499+14C>A) c.3595+14C>A (n.3595+14C>A) c.3445+14C>A (n.3445+14C>A) | |
5 | g.128337985A= | CA1581270710 | FBN2 | n.382+12T= n.463+12T= c.3598+12T= (n.3598+12T=) c.148+12T= (n.148+12T=) c.3499+12T= (n.3499+12T=) c.3595+12T= (n.3595+12T=) c.3445+12T= (n.3445+12T=) | |
5 | g.128337985A>C | CA2675117524 | FBN2 | n.382+12T>G n.463+12T>G c.3598+12T>G (n.3598+12T>G) c.148+12T>G (n.148+12T>G) c.3499+12T>G (n.3499+12T>G) c.3595+12T>G (n.3595+12T>G) c.3445+12T>G (n.3445+12T>G) | gnomAD v4 |
5 | g.128337985A>G | CA803638567 | FBN2 | n.382+12T>C n.463+12T>C c.3598+12T>C (n.3598+12T>C) c.148+12T>C (n.148+12T>C) c.3499+12T>C (n.3499+12T>C) c.3595+12T>C (n.3595+12T>C) c.3445+12T>C (n.3445+12T>C) | dbSNP |
5 | g.128337986G>C | CA1081360224 | FBN2 | n.382+11C>G n.463+11C>G c.3598+11C>G (n.3598+11C>G) c.148+11C>G (n.148+11C>G) c.3499+11C>G (n.3499+11C>G) c.3595+11C>G (n.3595+11C>G) c.3445+11C>G (n.3445+11C>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128337986G= | CA1581270711 | FBN2 | n.382+11C= n.463+11C= c.3598+11C= (n.3598+11C=) c.148+11C= (n.148+11C=) c.3499+11C= (n.3499+11C=) c.3595+11C= (n.3595+11C=) c.3445+11C= (n.3445+11C=) | |
5 | g.128337988T>A | CA3395191 | FBN2 | n.382+9A>T n.463+9A>T c.3598+9A>T (n.3598+9A>T) c.148+9A>T (n.148+9A>T) c.3499+9A>T (n.3499+9A>T) c.3595+9A>T (n.3595+9A>T) c.3445+9A>T (n.3445+9A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128337988T= | CA1581270712 | FBN2 | n.382+9A= n.463+9A= c.3598+9A= (n.3598+9A=) c.148+9A= (n.148+9A=) c.3499+9A= (n.3499+9A=) c.3595+9A= (n.3595+9A=) c.3445+9A= (n.3445+9A=) | |
5 | g.128337991A>C | CA2739275020 | FBN2 | n.382+6T>G n.463+6T>G c.3598+6T>G (n.3598+6T>G) c.148+6T>G (n.148+6T>G) c.3499+6T>G (n.3499+6T>G) c.3595+6T>G (n.3595+6T>G) c.3445+6T>G (n.3445+6T>G) | ClinVar |
5 | g.128337995A>C | CA360759046 | FBN2 | n.382+2T>G n.463+2T>G c.3598+2T>G (n.3598+2T>G) c.148+2T>G (n.148+2T>G) c.3499+2T>G (n.3499+2T>G) c.3595+2T>G (n.3595+2T>G) c.3445+2T>G (n.3445+2T>G) | |
5 | g.128337995A>G | CA360759048 | FBN2 | n.382+2T>C n.463+2T>C c.3598+2T>C (n.3598+2T>C) c.148+2T>C (n.148+2T>C) c.3499+2T>C (n.3499+2T>C) c.3595+2T>C (n.3595+2T>C) c.3445+2T>C (n.3445+2T>C) | |
5 | g.128337995A>T | CA360759050 | FBN2 | n.382+2T>A n.463+2T>A c.3598+2T>A (n.3598+2T>A) c.148+2T>A (n.148+2T>A) c.3499+2T>A (n.3499+2T>A) c.3595+2T>A (n.3595+2T>A) c.3445+2T>A (n.3445+2T>A) | |
5 | g.128337996C>A | CA360759053 | FBN2 | n.382+1G>T n.463+1G>T c.3598+1G>T (n.3598+1G>T) c.148+1G>T (n.148+1G>T) c.3499+1G>T (n.3499+1G>T) c.3595+1G>T (n.3595+1G>T) c.3445+1G>T (n.3445+1G>T) | |
5 | g.128337996C>G | CA360759056 | FBN2 | n.382+1G>C n.463+1G>C c.3598+1G>C (n.3598+1G>C) c.148+1G>C (n.148+1G>C) c.3499+1G>C (n.3499+1G>C) c.3595+1G>C (n.3595+1G>C) c.3445+1G>C (n.3445+1G>C) | |
5 | g.128337996C>T | CA360759058 | FBN2 | n.382+1G>A n.463+1G>A c.3598+1G>A (n.3598+1G>A) c.148+1G>A (n.148+1G>A) c.3499+1G>A (n.3499+1G>A) c.3595+1G>A (n.3595+1G>A) c.3445+1G>A (n.3445+1G>A) | |
5 | g.128337997C>A | CA360759062 | FBN2 | n.382G>T n.463G>T c.3598G>T (p.Asp1200Tyr) c.148G>T (p.Asp50Tyr) c.3499G>T (p.Asp1167Tyr) c.3595G>T (p.Asp1199Tyr) c.3445G>T (p.Asp1149Tyr) | |
5 | g.128337997C>G | CA360759064 | FBN2 | n.382G>C n.463G>C c.3598G>C (p.Asp1200His) c.148G>C (p.Asp50His) c.3499G>C (p.Asp1167His) c.3595G>C (p.Asp1199His) c.3445G>C (p.Asp1149His) | |
5 | g.128337997C>T | CA360759067 | FBN2 | n.382G>A n.463G>A c.3598G>A (p.Asp1200Asn) c.148G>A (p.Asp50Asn) c.3499G>A (p.Asp1167Asn) c.3595G>A (p.Asp1199Asn) c.3445G>A (p.Asp1149Asn) | |
5 | g.128337998C>A | CA446310535 | FBN2 | n.381G>T n.462G>T c.3597G>T (p.Val1199=) c.147G>T (p.Val49=) c.3498G>T (p.Val1166=) c.3594G>T (p.Val1198=) c.3444G>T (p.Val1148=) | dbSNP gnomAD v4 |
5 | g.128337998C= | CA1581270713 | FBN2 | n.381G= n.462G= c.3597G= (p.Val1199=) c.147G= (p.Val49=) c.3498G= (p.Val1166=) c.3594G= (p.Val1198=) c.3444G= (p.Val1148=) | |
5 | g.128337998C>G | CA446310537 | FBN2 | n.381G>C n.462G>C c.3597G>C (p.Val1199=) c.147G>C (p.Val49=) c.3498G>C (p.Val1166=) c.3594G>C (p.Val1198=) c.3444G>C (p.Val1148=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128337998C>T | CA446310536 | FBN2 | n.381G>A n.462G>A c.3597G>A (p.Val1199=) c.147G>A (p.Val49=) c.3498G>A (p.Val1166=) c.3594G>A (p.Val1198=) c.3444G>A (p.Val1148=) | dbSNP gnomAD v4 |
5 | g.128337999A= | CA1581270714 | FBN2 | n.380T= n.461T= c.3596T= (p.Val1199=) c.146T= (p.Val49=) c.3497T= (p.Val1166=) c.3593T= (p.Val1198=) c.3443T= (p.Val1148=) | |
5 | g.128337999A>C | CA360759071 | FBN2 | n.380T>G n.461T>G c.3596T>G (p.Val1199Gly) c.146T>G (p.Val49Gly) c.3497T>G (p.Val1166Gly) c.3593T>G (p.Val1198Gly) c.3443T>G (p.Val1148Gly) | |
5 | g.128337999A>G | CA3395192 | FBN2 | n.380T>C n.461T>C c.3596T>C (p.Val1199Ala) c.146T>C (p.Val49Ala) c.3497T>C (p.Val1166Ala) c.3593T>C (p.Val1198Ala) c.3443T>C (p.Val1148Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128337999A>T | CA360759069 | FBN2 | n.380T>A n.461T>A c.3596T>A (p.Val1199Glu) c.146T>A (p.Val49Glu) c.3497T>A (p.Val1166Glu) c.3593T>A (p.Val1198Glu) c.3443T>A (p.Val1148Glu) | |
5 | g.128338000C>A | CA360759077 | FBN2 | n.379G>T n.460G>T c.3595G>T (p.Val1199Leu) c.145G>T (p.Val49Leu) c.3496G>T (p.Val1166Leu) c.3592G>T (p.Val1198Leu) c.3442G>T (p.Val1148Leu) | |
5 | g.128338000C= | CA1581270715 | FBN2 | n.379G= n.460G= c.3595G= (p.Val1199=) c.145G= (p.Val49=) c.3496G= (p.Val1166=) c.3592G= (p.Val1198=) c.3442G= (p.Val1148=) | |
5 | g.128338000C>G | CA360759080 | FBN2 | n.379G>C n.460G>C c.3595G>C (p.Val1199Leu) c.145G>C (p.Val49Leu) c.3496G>C (p.Val1166Leu) c.3592G>C (p.Val1198Leu) c.3442G>C (p.Val1148Leu) | |
5 | g.128338000C>T | CA3395193 | FBN2 | n.379G>A n.460G>A c.3595G>A (p.Val1199Met) c.145G>A (p.Val49Met) c.3496G>A (p.Val1166Met) c.3592G>A (p.Val1198Met) c.3442G>A (p.Val1148Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338001A>C | CA360759082 | FBN2 | n.378T>G n.459T>G c.3594T>G (p.Cys1198Trp) c.144T>G (p.Cys48Trp) c.3495T>G (p.Cys1165Trp) c.3591T>G (p.Cys1197Trp) c.3441T>G (p.Cys1147Trp) | ClinVar |
5 | g.128338001A>G | CA446310539 | FBN2 | n.378T>C n.459T>C c.3594T>C (p.Cys1198=) c.144T>C (p.Cys48=) c.3495T>C (p.Cys1165=) c.3591T>C (p.Cys1197=) c.3441T>C (p.Cys1147=) | gnomAD v4 |
5 | g.128338001A>T | CA360759086 | FBN2 | n.378T>A n.459T>A c.3594T>A (p.Cys1198Ter) c.144T>A (p.Cys48Ter) c.3495T>A (p.Cys1165Ter) c.3591T>A (p.Cys1197Ter) c.3441T>A (p.Cys1147Ter) | |
5 | g.128338002C>A | CA360759092 | FBN2 | n.377G>T n.458G>T c.3593G>T (p.Cys1198Phe) c.143G>T (p.Cys48Phe) c.3494G>T (p.Cys1165Phe) c.3590G>T (p.Cys1197Phe) c.3440G>T (p.Cys1147Phe) | |
5 | g.128338002C= | CA1581270716 | FBN2 | n.377G= n.458G= c.3593G= (p.Cys1198=) c.143G= (p.Cys48=) c.3494G= (p.Cys1165=) c.3590G= (p.Cys1197=) c.3440G= (p.Cys1147=) | |
5 | g.128338002C>G | CA360759088 | FBN2 | n.377G>C n.458G>C c.3593G>C (p.Cys1198Ser) c.143G>C (p.Cys48Ser) c.3494G>C (p.Cys1165Ser) c.3590G>C (p.Cys1197Ser) c.3440G>C (p.Cys1147Ser) | |
5 | g.128338002C>T | CA321818 | FBN2 | n.377G>A n.458G>A c.3593G>A (p.Cys1198Tyr) c.143G>A (p.Cys48Tyr) c.3494G>A (p.Cys1165Tyr) c.3590G>A (p.Cys1197Tyr) c.3440G>A (p.Cys1147Tyr) | ClinVar dbSNP gnomAD v4 |
5 | g.128338003A= | CA1581270717 | FBN2 | n.376T= n.457T= c.3592T= (p.Cys1198=) c.142T= (p.Cys48=) c.3493T= (p.Cys1165=) c.3589T= (p.Cys1197=) c.3439T= (p.Cys1147=) | |
5 | g.128338003A>C | CA360759096 | FBN2 | n.376T>G n.457T>G c.3592T>G (p.Cys1198Gly) c.142T>G (p.Cys48Gly) c.3493T>G (p.Cys1165Gly) c.3589T>G (p.Cys1197Gly) c.3439T>G (p.Cys1147Gly) | |
5 | g.128338003A>G | CA360759098 | FBN2 | n.376T>C n.457T>C c.3592T>C (p.Cys1198Arg) c.142T>C (p.Cys48Arg) c.3493T>C (p.Cys1165Arg) c.3589T>C (p.Cys1197Arg) c.3439T>C (p.Cys1147Arg) | ClinVar dbSNP |
5 | g.128338003A>T | CA360759101 | FBN2 | n.376T>A n.457T>A c.3592T>A (p.Cys1198Ser) c.142T>A (p.Cys48Ser) c.3493T>A (p.Cys1165Ser) c.3589T>A (p.Cys1197Ser) c.3439T>A (p.Cys1147Ser) | |
5 | g.128338004G>A | CA446310541 | FBN2 | n.375C>T n.456C>T c.3591C>T (p.Asp1197=) c.141C>T (p.Asp47=) c.3492C>T (p.Asp1164=) c.3588C>T (p.Asp1196=) c.3438C>T (p.Asp1146=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128338004G>C | CA360759105 | FBN2 | n.375C>G n.456C>G c.3591C>G (p.Asp1197Glu) c.141C>G (p.Asp47Glu) c.3492C>G (p.Asp1164Glu) c.3588C>G (p.Asp1196Glu) c.3438C>G (p.Asp1146Glu) | |
5 | g.128338004G= | CA1581270718 | FBN2 | n.375C= n.456C= c.3591C= (p.Asp1197=) c.141C= (p.Asp47=) c.3492C= (p.Asp1164=) c.3588C= (p.Asp1196=) c.3438C= (p.Asp1146=) | |
5 | g.128338004G>T | CA360759108 | FBN2 | n.375C>A n.456C>A c.3591C>A (p.Asp1197Glu) c.141C>A (p.Asp47Glu) c.3492C>A (p.Asp1164Glu) c.3588C>A (p.Asp1196Glu) c.3438C>A (p.Asp1146Glu) | |
5 | g.128338005T>A | CA3395195 | FBN2 | n.374A>T n.455A>T c.3590A>T (p.Asp1197Val) c.140A>T (p.Asp47Val) c.3491A>T (p.Asp1164Val) c.3587A>T (p.Asp1196Val) c.3437A>T (p.Asp1146Val) | dbSNP ExAC gnomAD v4 |
5 | g.128338005T>C | CA3395194 | FBN2 | n.374A>G n.455A>G c.3590A>G (p.Asp1197Gly) c.140A>G (p.Asp47Gly) c.3491A>G (p.Asp1164Gly) c.3587A>G (p.Asp1196Gly) c.3437A>G (p.Asp1146Gly) | dbSNP ExAC |
5 | g.128338005T>G | CA360759115 | FBN2 | n.374A>C n.455A>C c.3590A>C (p.Asp1197Ala) c.140A>C (p.Asp47Ala) c.3491A>C (p.Asp1164Ala) c.3587A>C (p.Asp1196Ala) c.3437A>C (p.Asp1146Ala) | |
5 | g.128338005T= | CA1581270719 | FBN2 | n.374A= n.455A= c.3590A= (p.Asp1197=) c.140A= (p.Asp47=) c.3491A= (p.Asp1164=) c.3587A= (p.Asp1196=) c.3437A= (p.Asp1146=) | |
5 | g.128338006C>A | CA360759119 | FBN2 | n.373G>T n.454G>T c.3589G>T (p.Asp1197Tyr) c.139G>T (p.Asp47Tyr) c.3490G>T (p.Asp1164Tyr) c.3586G>T (p.Asp1196Tyr) c.3436G>T (p.Asp1146Tyr) | |
5 | g.128338006C>G | CA360759122 | FBN2 | n.373G>C n.454G>C c.3589G>C (p.Asp1197His) c.139G>C (p.Asp47His) c.3490G>C (p.Asp1164His) c.3586G>C (p.Asp1196His) c.3436G>C (p.Asp1146His) | |
5 | g.128338006C>T | CA360759125 | FBN2 | n.373G>A n.454G>A c.3589G>A (p.Asp1197Asn) c.139G>A (p.Asp47Asn) c.3490G>A (p.Asp1164Asn) c.3586G>A (p.Asp1196Asn) c.3436G>A (p.Asp1146Asn) | |
5 | g.128338007C>A | CA360759128 | FBN2 | n.372G>T n.453G>T c.3588G>T (p.Glu1196Asp) c.138G>T (p.Glu46Asp) c.3489G>T (p.Glu1163Asp) c.3585G>T (p.Glu1195Asp) c.3435G>T (p.Glu1145Asp) | |
5 | g.128338007C= | CA1581270720 | FBN2 | n.372G= n.453G= c.3588G= (p.Glu1196=) c.138G= (p.Glu46=) c.3489G= (p.Glu1163=) c.3585G= (p.Glu1195=) c.3435G= (p.Glu1145=) | |
5 | g.128338007C>G | CA360759131 | FBN2 | n.372G>C n.453G>C c.3588G>C (p.Glu1196Asp) c.138G>C (p.Glu46Asp) c.3489G>C (p.Glu1163Asp) c.3585G>C (p.Glu1195Asp) c.3435G>C (p.Glu1145Asp) | |
5 | g.128338007C>T | CA3395196 | FBN2 | n.372G>A n.453G>A c.3588G>A (p.Glu1196=) c.138G>A (p.Glu46=) c.3489G>A (p.Glu1163=) c.3585G>A (p.Glu1195=) c.3435G>A (p.Glu1145=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128338008T>A | CA360759136 | FBN2 | n.371A>T n.452A>T c.3587A>T (p.Glu1196Val) c.137A>T (p.Glu46Val) c.3488A>T (p.Glu1163Val) c.3584A>T (p.Glu1195Val) c.3434A>T (p.Glu1145Val) | |
5 | g.128338008T>C | CA360759139 | FBN2 | n.371A>G n.452A>G c.3587A>G (p.Glu1196Gly) c.137A>G (p.Glu46Gly) c.3488A>G (p.Glu1163Gly) c.3584A>G (p.Glu1195Gly) c.3434A>G (p.Glu1145Gly) | |
5 | g.128338008T>G | CA360759144 | FBN2 | n.371A>C n.452A>C c.3587A>C (p.Glu1196Ala) c.137A>C (p.Glu46Ala) c.3488A>C (p.Glu1163Ala) c.3584A>C (p.Glu1195Ala) c.3434A>C (p.Glu1145Ala) | |
5 | g.128338009C>A | CA360759147 | FBN2 | n.370G>T n.451G>T c.3586G>T (p.Glu1196Ter) c.136G>T (p.Glu46Ter) c.3487G>T (p.Glu1163Ter) c.3583G>T (p.Glu1195Ter) c.3433G>T (p.Glu1145Ter) | |
5 | g.128338009C>G | CA360759149 | FBN2 | n.370G>C n.451G>C c.3586G>C (p.Glu1196Gln) c.136G>C (p.Glu46Gln) c.3487G>C (p.Glu1163Gln) c.3583G>C (p.Glu1195Gln) c.3433G>C (p.Glu1145Gln) | |
5 | g.128338009C>T | CA360759150 | FBN2 | n.370G>A n.451G>A c.3586G>A (p.Glu1196Lys) c.136G>A (p.Glu46Lys) c.3487G>A (p.Glu1163Lys) c.3583G>A (p.Glu1195Lys) c.3433G>A (p.Glu1145Lys) | |
5 | g.128338010A>C | CA446310544 | FBN2 | n.369T>G n.450T>G c.3585T>G (p.Arg1195=) c.135T>G (p.Arg45=) c.3486T>G (p.Arg1162=) c.3582T>G (p.Arg1194=) c.3432T>G (p.Arg1144=) | |
5 | g.128338010A>G | CA446310545 | FBN2 | n.369T>C n.450T>C c.3585T>C (p.Arg1195=) c.135T>C (p.Arg45=) c.3486T>C (p.Arg1162=) c.3582T>C (p.Arg1194=) c.3432T>C (p.Arg1144=) | gnomAD v4 |
5 | g.128338010A>T | CA446310546 | FBN2 | n.369T>A n.450T>A c.3585T>A (p.Arg1195=) c.135T>A (p.Arg45=) c.3486T>A (p.Arg1162=) c.3582T>A (p.Arg1194=) c.3432T>A (p.Arg1144=) | |
5 | g.128338011C>A | CA360759158 | FBN2 | n.368G>T n.449G>T c.3584G>T (p.Arg1195Leu) c.134G>T (p.Arg45Leu) c.3485G>T (p.Arg1162Leu) c.3581G>T (p.Arg1194Leu) c.3431G>T (p.Arg1144Leu) | gnomAD v4 COSMIC COSMIC |
5 | g.128338011C= | CA1581270721 | FBN2 | n.368G= n.449G= c.3584G= (p.Arg1195=) c.134G= (p.Arg45=) c.3485G= (p.Arg1162=) c.3581G= (p.Arg1194=) c.3431G= (p.Arg1144=) | |
5 | g.128338011C>G | CA360759161 | FBN2 | n.368G>C n.449G>C c.3584G>C (p.Arg1195Pro) c.134G>C (p.Arg45Pro) c.3485G>C (p.Arg1162Pro) c.3581G>C (p.Arg1194Pro) c.3431G>C (p.Arg1144Pro) | ClinVar gnomAD v4 |
5 | g.128338011C>T | CA3395197 | FBN2 | n.368G>A n.449G>A c.3584G>A (p.Arg1195His) c.134G>A (p.Arg45His) c.3485G>A (p.Arg1162His) c.3581G>A (p.Arg1194His) c.3431G>A (p.Arg1144His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338012G>A | CA325002 | FBN2 | n.367C>T n.448C>T c.3583C>T (p.Arg1195Cys) c.133C>T (p.Arg45Cys) c.3484C>T (p.Arg1162Cys) c.3580C>T (p.Arg1194Cys) c.3430C>T (p.Arg1144Cys) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.128338012G>C | CA360759162 | FBN2 | n.367C>G n.448C>G c.3583C>G (p.Arg1195Gly) c.133C>G (p.Arg45Gly) c.3484C>G (p.Arg1162Gly) c.3580C>G (p.Arg1194Gly) c.3430C>G (p.Arg1144Gly) | |
5 | g.128338012G= | CA1581270722 | FBN2 | n.367C= n.448C= c.3583C= (p.Arg1195=) c.133C= (p.Arg45=) c.3484C= (p.Arg1162=) c.3580C= (p.Arg1194=) c.3430C= (p.Arg1144=) | |
5 | g.128338012G>T | CA360759164 | FBN2 | n.367C>A n.448C>A c.3583C>A (p.Arg1195Ser) c.133C>A (p.Arg45Ser) c.3484C>A (p.Arg1162Ser) c.3580C>A (p.Arg1194Ser) c.3430C>A (p.Arg1144Ser) | |
5 | g.128338013G>A | CA3395198 | FBN2 | n.366C>T n.447C>T c.3582C>T (p.Ser1194=) c.132C>T (p.Ser44=) c.3483C>T (p.Ser1161=) c.3579C>T (p.Ser1193=) c.3429C>T (p.Ser1143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128338013G>C | CA446310550 | FBN2 | n.366C>G n.447C>G c.3582C>G (p.Ser1194=) c.132C>G (p.Ser44=) c.3483C>G (p.Ser1161=) c.3579C>G (p.Ser1193=) c.3429C>G (p.Ser1143=) | |
5 | g.128338013G= | CA1581270723 | FBN2 | n.366C= n.447C= c.3582C= (p.Ser1194=) c.132C= (p.Ser44=) c.3483C= (p.Ser1161=) c.3579C= (p.Ser1193=) c.3429C= (p.Ser1143=) | |
5 | g.128338013G>T | CA446310551 | FBN2 | n.366C>A n.447C>A c.3582C>A (p.Ser1194=) c.132C>A (p.Ser44=) c.3483C>A (p.Ser1161=) c.3579C>A (p.Ser1193=) c.3429C>A (p.Ser1143=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128338014G>A | CA127014877 | FBN2 | n.365C>T n.446C>T c.3581C>T (p.Ser1194Phe) c.131C>T (p.Ser44Phe) c.3482C>T (p.Ser1161Phe) c.3578C>T (p.Ser1193Phe) c.3428C>T (p.Ser1143Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338014G>C | CA360759172 | FBN2 | n.365C>G n.446C>G c.3581C>G (p.Ser1194Cys) c.131C>G (p.Ser44Cys) c.3482C>G (p.Ser1161Cys) c.3578C>G (p.Ser1193Cys) c.3428C>G (p.Ser1143Cys) | |
5 | g.128338014G= | CA1581270724 | FBN2 | n.365C= n.446C= c.3581C= (p.Ser1194=) c.131C= (p.Ser44=) c.3482C= (p.Ser1161=) c.3578C= (p.Ser1193=) c.3428C= (p.Ser1143=) | |
5 | g.128338014G>T | CA360759174 | FBN2 | n.365C>A n.446C>A c.3581C>A (p.Ser1194Tyr) c.131C>A (p.Ser44Tyr) c.3482C>A (p.Ser1161Tyr) c.3578C>A (p.Ser1193Tyr) c.3428C>A (p.Ser1143Tyr) | COSMIC COSMIC |
5 | g.128338015A>C | CA360759175 | FBN2 | n.364T>G n.445T>G c.3580T>G (p.Ser1194Ala) c.130T>G (p.Ser44Ala) c.3481T>G (p.Ser1161Ala) c.3577T>G (p.Ser1193Ala) c.3427T>G (p.Ser1143Ala) | |
5 | g.128338015A>G | CA360759176 | FBN2 | n.364T>C n.445T>C c.3580T>C (p.Ser1194Pro) c.130T>C (p.Ser44Pro) c.3481T>C (p.Ser1161Pro) c.3577T>C (p.Ser1193Pro) c.3427T>C (p.Ser1143Pro) | |
5 | g.128338015A>T | CA360759177 | FBN2 | n.364T>A n.445T>A c.3580T>A (p.Ser1194Thr) c.130T>A (p.Ser44Thr) c.3481T>A (p.Ser1161Thr) c.3577T>A (p.Ser1193Thr) c.3427T>A (p.Ser1143Thr) | gnomAD v4 |
5 | g.128338016T>A | CA446310553 | FBN2 | n.363A>T n.444A>T c.3579A>T (p.Pro1193=) c.129A>T (p.Pro43=) c.3480A>T (p.Pro1160=) c.3576A>T (p.Pro1192=) c.3426A>T (p.Pro1142=) | |
5 | g.128338016T>C | CA446310554 | FBN2 | n.363A>G n.444A>G c.3579A>G (p.Pro1193=) c.129A>G (p.Pro43=) c.3480A>G (p.Pro1160=) c.3576A>G (p.Pro1192=) c.3426A>G (p.Pro1142=) | |
5 | g.128338016T>G | CA446310555 | FBN2 | n.363A>C n.444A>C c.3579A>C (p.Pro1193=) c.129A>C (p.Pro43=) c.3480A>C (p.Pro1160=) c.3576A>C (p.Pro1192=) c.3426A>C (p.Pro1142=) | |
5 | g.128338017G>A | CA360759179 | FBN2 | n.362C>T n.443C>T c.3578C>T (p.Pro1193Leu) c.128C>T (p.Pro43Leu) c.3479C>T (p.Pro1160Leu) c.3575C>T (p.Pro1192Leu) c.3425C>T (p.Pro1142Leu) | |
5 | g.128338017G>C | CA360759180 | FBN2 | n.362C>G n.443C>G c.3578C>G (p.Pro1193Arg) c.128C>G (p.Pro43Arg) c.3479C>G (p.Pro1160Arg) c.3575C>G (p.Pro1192Arg) c.3425C>G (p.Pro1142Arg) | |
5 | g.128338017G>T | CA360759183 | FBN2 | n.362C>A n.443C>A c.3578C>A (p.Pro1193Gln) c.128C>A (p.Pro43Gln) c.3479C>A (p.Pro1160Gln) c.3575C>A (p.Pro1192Gln) c.3425C>A (p.Pro1142Gln) | |
5 | g.128338018G>A | CA3395199 | FBN2 | n.361C>T n.442C>T c.3577C>T (p.Pro1193Ser) c.127C>T (p.Pro43Ser) c.3478C>T (p.Pro1160Ser) c.3574C>T (p.Pro1192Ser) c.3424C>T (p.Pro1142Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338018G>C | CA360759190 | FBN2 | n.361C>G n.442C>G c.3577C>G (p.Pro1193Ala) c.127C>G (p.Pro43Ala) c.3478C>G (p.Pro1160Ala) c.3574C>G (p.Pro1192Ala) c.3424C>G (p.Pro1142Ala) | |
5 | g.128338018G= | CA1581270725 | FBN2 | n.361C= n.442C= c.3577C= (p.Pro1193=) c.127C= (p.Pro43=) c.3478C= (p.Pro1160=) c.3574C= (p.Pro1192=) c.3424C= (p.Pro1142=) | |
5 | g.128338018G>T | CA360759186 | FBN2 | n.361C>A n.442C>A c.3577C>A (p.Pro1193Thr) c.127C>A (p.Pro43Thr) c.3478C>A (p.Pro1160Thr) c.3574C>A (p.Pro1192Thr) c.3424C>A (p.Pro1142Thr) | |
5 | g.128338019T>A | CA446310561 | FBN2 | n.360A>T n.441A>T c.3576A>T (p.Ser1192=) c.126A>T (p.Ser42=) c.3477A>T (p.Ser1159=) c.3573A>T (p.Ser1191=) c.3423A>T (p.Ser1141=) | |
5 | g.128338019T>C | CA446310560 | FBN2 | n.360A>G n.441A>G c.3576A>G (p.Ser1192=) c.126A>G (p.Ser42=) c.3477A>G (p.Ser1159=) c.3573A>G (p.Ser1191=) c.3423A>G (p.Ser1141=) | gnomAD v4 |
5 | g.128338019T>G | CA446310559 | FBN2 | n.360A>C n.441A>C c.3576A>C (p.Ser1192=) c.126A>C (p.Ser42=) c.3477A>C (p.Ser1159=) c.3573A>C (p.Ser1191=) c.3423A>C (p.Ser1141=) | |
5 | g.128338020G>A | CA360759192 | FBN2 | n.359C>T n.440C>T c.3575C>T (p.Ser1192Leu) c.125C>T (p.Ser42Leu) c.3476C>T (p.Ser1159Leu) c.3572C>T (p.Ser1191Leu) c.3422C>T (p.Ser1141Leu) | dbSNP gnomAD v4 |
5 | g.128338020G>C | CA360759196 | FBN2 | n.359C>G n.440C>G c.3575C>G (p.Ser1192Ter) c.125C>G (p.Ser42Ter) c.3476C>G (p.Ser1159Ter) c.3572C>G (p.Ser1191Ter) c.3422C>G (p.Ser1141Ter) | |
5 | g.128338020G= | CA1581270726 | FBN2 | n.359C= n.440C= c.3575C= (p.Ser1192=) c.125C= (p.Ser42=) c.3476C= (p.Ser1159=) c.3572C= (p.Ser1191=) c.3422C= (p.Ser1141=) | |
5 | g.128338020G>T | CA360759197 | FBN2 | n.359C>A n.440C>A c.3575C>A (p.Ser1192Ter) c.125C>A (p.Ser42Ter) c.3476C>A (p.Ser1159Ter) c.3572C>A (p.Ser1191Ter) c.3422C>A (p.Ser1141Ter) | |
5 | g.128338021A>C | CA360759200 | FBN2 | n.358T>G n.439T>G c.3574T>G (p.Ser1192Ala) c.124T>G (p.Ser42Ala) c.3475T>G (p.Ser1159Ala) c.3571T>G (p.Ser1191Ala) c.3421T>G (p.Ser1141Ala) | |
5 | g.128338021A>G | CA360759201 | FBN2 | n.358T>C n.439T>C c.3574T>C (p.Ser1192Pro) c.124T>C (p.Ser42Pro) c.3475T>C (p.Ser1159Pro) c.3571T>C (p.Ser1191Pro) c.3421T>C (p.Ser1141Pro) | |
5 | g.128338021A>T | CA360759203 | FBN2 | n.358T>A n.439T>A c.3574T>A (p.Ser1192Thr) c.124T>A (p.Ser42Thr) c.3475T>A (p.Ser1159Thr) c.3571T>A (p.Ser1191Thr) c.3421T>A (p.Ser1141Thr) | |
5 | g.128338022C>A | CA446310565 | FBN2 | n.357G>T n.438G>T c.3573G>T (p.Leu1191=) c.123G>T (p.Leu41=) c.3474G>T (p.Leu1158=) c.3570G>T (p.Leu1190=) c.3420G>T (p.Leu1140=) | |
5 | g.128338022C>G | CA446310564 | FBN2 | n.357G>C n.438G>C c.3573G>C (p.Leu1191=) c.123G>C (p.Leu41=) c.3474G>C (p.Leu1158=) c.3570G>C (p.Leu1190=) c.3420G>C (p.Leu1140=) | |
5 | g.128338022C>T | CA446310563 | FBN2 | n.357G>A n.438G>A c.3573G>A (p.Leu1191=) c.123G>A (p.Leu41=) c.3474G>A (p.Leu1158=) c.3570G>A (p.Leu1190=) c.3420G>A (p.Leu1140=) | gnomAD v4 |
5 | g.128338023A>C | CA360759207 | FBN2 | n.356T>G n.437T>G c.3572T>G (p.Leu1191Arg) c.122T>G (p.Leu41Arg) c.3473T>G (p.Leu1158Arg) c.3569T>G (p.Leu1190Arg) c.3419T>G (p.Leu1140Arg) | |
5 | g.128338023A>G | CA360759215 | FBN2 | n.356T>C n.437T>C c.3572T>C (p.Leu1191Pro) c.122T>C (p.Leu41Pro) c.3473T>C (p.Leu1158Pro) c.3569T>C (p.Leu1190Pro) c.3419T>C (p.Leu1140Pro) | |
5 | g.128338023A>T | CA360759213 | FBN2 | n.356T>A n.437T>A c.3572T>A (p.Leu1191Gln) c.122T>A (p.Leu41Gln) c.3473T>A (p.Leu1158Gln) c.3569T>A (p.Leu1190Gln) c.3419T>A (p.Leu1140Gln) | |
5 | g.128338024G>A | CA446310566 | FBN2 | n.355C>T n.436C>T c.3571C>T (p.Leu1191=) c.121C>T (p.Leu41=) c.3472C>T (p.Leu1158=) c.3568C>T (p.Leu1190=) c.3418C>T (p.Leu1140=) | |
5 | g.128338024G>C | CA360759218 | FBN2 | n.355C>G n.436C>G c.3571C>G (p.Leu1191Val) c.121C>G (p.Leu41Val) c.3472C>G (p.Leu1158Val) c.3568C>G (p.Leu1190Val) c.3418C>G (p.Leu1140Val) | |
5 | g.128338024G>T | CA360759221 | FBN2 | n.355C>A n.436C>A c.3571C>A (p.Leu1191Met) c.121C>A (p.Leu41Met) c.3472C>A (p.Leu1158Met) c.3568C>A (p.Leu1190Met) c.3418C>A (p.Leu1140Met) | |
5 | g.128338025C>A | CA360759223 | FBN2 | n.354G>T n.435G>T c.3570G>T (p.Glu1190Asp) c.120G>T (p.Glu40Asp) c.3471G>T (p.Glu1157Asp) c.3567G>T (p.Glu1189Asp) c.3417G>T (p.Glu1139Asp) | |
5 | g.128338025C>G | CA360759228 | FBN2 | n.354G>C n.435G>C c.3570G>C (p.Glu1190Asp) c.120G>C (p.Glu40Asp) c.3471G>C (p.Glu1157Asp) c.3567G>C (p.Glu1189Asp) c.3417G>C (p.Glu1139Asp) | |
5 | g.128338025C>T | CA446310570 | FBN2 | n.354G>A n.435G>A c.3570G>A (p.Glu1190=) c.120G>A (p.Glu40=) c.3471G>A (p.Glu1157=) c.3567G>A (p.Glu1189=) c.3417G>A (p.Glu1139=) | ClinVar dbSNP |
5 | g.128338026T>A | CA360759236 | FBN2 | n.353A>T n.434A>T c.3569A>T (p.Glu1190Val) c.119A>T (p.Glu40Val) c.3470A>T (p.Glu1157Val) c.3566A>T (p.Glu1189Val) c.3416A>T (p.Glu1139Val) | |
5 | g.128338026T>C | CA360759234 | FBN2 | n.353A>G n.434A>G c.3569A>G (p.Glu1190Gly) c.119A>G (p.Glu40Gly) c.3470A>G (p.Glu1157Gly) c.3566A>G (p.Glu1189Gly) c.3416A>G (p.Glu1139Gly) | |
5 | g.128338026T>G | CA360759231 | FBN2 | n.353A>C n.434A>C c.3569A>C (p.Glu1190Ala) c.119A>C (p.Glu40Ala) c.3470A>C (p.Glu1157Ala) c.3566A>C (p.Glu1189Ala) c.3416A>C (p.Glu1139Ala) | |
5 | g.128338027C>A | CA360759240 | FBN2 | n.352G>T n.433G>T c.3568G>T (p.Glu1190Ter) c.118G>T (p.Glu40Ter) c.3469G>T (p.Glu1157Ter) c.3565G>T (p.Glu1189Ter) c.3415G>T (p.Glu1139Ter) | |
5 | g.128338027C= | CA1581270727 | FBN2 | n.352G= n.433G= c.3568G= (p.Glu1190=) c.118G= (p.Glu40=) c.3469G= (p.Glu1157=) c.3565G= (p.Glu1189=) c.3415G= (p.Glu1139=) | |
5 | g.128338027C>G | CA360759243 | FBN2 | n.352G>C n.433G>C c.3568G>C (p.Glu1190Gln) c.118G>C (p.Glu40Gln) c.3469G>C (p.Glu1157Gln) c.3565G>C (p.Glu1189Gln) c.3415G>C (p.Glu1139Gln) | |
5 | g.128338027C>T | CA3395200 | FBN2 | n.352G>A n.433G>A c.3568G>A (p.Glu1190Lys) c.118G>A (p.Glu40Lys) c.3469G>A (p.Glu1157Lys) c.3565G>A (p.Glu1189Lys) c.3415G>A (p.Glu1139Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338028G>A | CA127014880 | FBN2 | n.351C>T n.432C>T c.3567C>T (p.His1189=) c.117C>T (p.His39=) c.3468C>T (p.His1156=) c.3564C>T (p.His1188=) c.3414C>T (p.His1138=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128338028G>C | CA360759246 | FBN2 | n.351C>G n.432C>G c.3567C>G (p.His1189Gln) c.117C>G (p.His39Gln) c.3468C>G (p.His1156Gln) c.3564C>G (p.His1188Gln) c.3414C>G (p.His1138Gln) | gnomAD v4 |
5 | g.128338028G= | CA1581270728 | FBN2 | n.351C= n.432C= c.3567C= (p.His1189=) c.117C= (p.His39=) c.3468C= (p.His1156=) c.3564C= (p.His1188=) c.3414C= (p.His1138=) | |
5 | g.128338028G>T | CA360759248 | FBN2 | n.351C>A n.432C>A c.3567C>A (p.His1189Gln) c.117C>A (p.His39Gln) c.3468C>A (p.His1156Gln) c.3564C>A (p.His1188Gln) c.3414C>A (p.His1138Gln) | |
5 | g.128338029T>A | CA360759267 | FBN2 | n.350A>T n.431A>T c.3566A>T (p.His1189Leu) c.116A>T (p.His39Leu) c.3467A>T (p.His1156Leu) c.3563A>T (p.His1188Leu) c.3413A>T (p.His1138Leu) | |
5 | g.128338029T>C | CA360759264 | FBN2 | n.350A>G n.431A>G c.3566A>G (p.His1189Arg) c.116A>G (p.His39Arg) c.3467A>G (p.His1156Arg) c.3563A>G (p.His1188Arg) c.3413A>G (p.His1138Arg) | |
5 | g.128338029T>G | CA323415 | FBN2 | n.350A>C n.431A>C c.3566A>C (p.His1189Pro) c.116A>C (p.His39Pro) c.3467A>C (p.His1156Pro) c.3563A>C (p.His1188Pro) c.3413A>C (p.His1138Pro) | ClinVar dbSNP gnomAD v4 |
5 | g.128338029T= | CA1581270729 | FBN2 | n.350A= n.431A= c.3566A= (p.His1189=) c.116A= (p.His39=) c.3467A= (p.His1156=) c.3563A= (p.His1188=) c.3413A= (p.His1138=) | |
5 | g.128338030G>A | CA324034 | FBN2 | n.349C>T n.430C>T c.3565C>T (p.His1189Tyr) c.115C>T (p.His39Tyr) c.3466C>T (p.His1156Tyr) c.3562C>T (p.His1188Tyr) c.3412C>T (p.His1138Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338030G>C | CA360759270 | FBN2 | n.349C>G n.430C>G c.3565C>G (p.His1189Asp) c.115C>G (p.His39Asp) c.3466C>G (p.His1156Asp) c.3562C>G (p.His1188Asp) c.3412C>G (p.His1138Asp) | |
5 | g.128338030G= | CA1581270730 | FBN2 | n.349C= n.430C= c.3565C= (p.His1189=) c.115C= (p.His39=) c.3466C= (p.His1156=) c.3562C= (p.His1188=) c.3412C= (p.His1138=) | |
5 | g.128338030G>T | CA360759272 | FBN2 | n.349C>A n.430C>A c.3565C>A (p.His1189Asn) c.115C>A (p.His39Asn) c.3466C>A (p.His1156Asn) c.3562C>A (p.His1188Asn) c.3412C>A (p.His1138Asn) | |
5 | g.128338031T>A | CA446310576 | FBN2 | n.348A>T n.429A>T c.3564A>T (p.Gly1188=) c.114A>T (p.Gly38=) c.3465A>T (p.Gly1155=) c.3561A>T (p.Gly1187=) c.3411A>T (p.Gly1137=) | |
5 | g.128338031T>C | CA446310577 | FBN2 | n.348A>G n.429A>G c.3564A>G (p.Gly1188=) c.114A>G (p.Gly38=) c.3465A>G (p.Gly1155=) c.3561A>G (p.Gly1187=) c.3411A>G (p.Gly1137=) | |
5 | g.128338031T>G | CA446310578 | FBN2 | n.348A>C n.429A>C c.3564A>C (p.Gly1188=) c.114A>C (p.Gly38=) c.3465A>C (p.Gly1155=) c.3561A>C (p.Gly1187=) c.3411A>C (p.Gly1137=) | |
5 | g.128338032C>A | CA360759274 | FBN2 | n.347G>T n.428G>T c.3563G>T (p.Gly1188Val) c.113G>T (p.Gly38Val) c.3464G>T (p.Gly1155Val) c.3560G>T (p.Gly1187Val) c.3410G>T (p.Gly1137Val) | COSMIC COSMIC |
5 | g.128338032C= | CA1581270731 | FBN2 | n.347G= n.428G= c.3563G= (p.Gly1188=) c.113G= (p.Gly38=) c.3464G= (p.Gly1155=) c.3560G= (p.Gly1187=) c.3410G= (p.Gly1137=) | |
5 | g.128338032C>G | CA360759276 | FBN2 | n.347G>C n.428G>C c.3563G>C (p.Gly1188Ala) c.113G>C (p.Gly38Ala) c.3464G>C (p.Gly1155Ala) c.3560G>C (p.Gly1187Ala) c.3410G>C (p.Gly1137Ala) | |
5 | g.128338032C>T | CA321793 | FBN2 | n.347G>A n.428G>A c.3563G>A (p.Gly1188Glu) c.113G>A (p.Gly38Glu) c.3464G>A (p.Gly1155Glu) c.3560G>A (p.Gly1187Glu) c.3410G>A (p.Gly1137Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338033C>A | CA360759279 | FBN2 | n.346G>T n.427G>T c.3562G>T (p.Gly1188Ter) c.112G>T (p.Gly38Ter) c.3463G>T (p.Gly1155Ter) c.3559G>T (p.Gly1187Ter) c.3409G>T (p.Gly1137Ter) | |
5 | g.128338033C= | CA1581270732 | FBN2 | n.346G= n.427G= c.3562G= (p.Gly1188=) c.112G= (p.Gly38=) c.3463G= (p.Gly1155=) c.3559G= (p.Gly1187=) c.3409G= (p.Gly1137=) | |
5 | g.128338033C>G | CA360759283 | FBN2 | n.346G>C n.427G>C c.3562G>C (p.Gly1188Arg) c.112G>C (p.Gly38Arg) c.3463G>C (p.Gly1155Arg) c.3559G>C (p.Gly1187Arg) c.3409G>C (p.Gly1137Arg) | |
5 | g.128338033C>T | CA360759280 | FBN2 | n.346G>A n.427G>A c.3562G>A (p.Gly1188Arg) c.112G>A (p.Gly38Arg) c.3463G>A (p.Gly1155Arg) c.3559G>A (p.Gly1187Arg) c.3409G>A (p.Gly1137Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128338034C>A | CA446310579 | FBN2 | n.345G>T n.426G>T c.3561G>T (p.Leu1187=) c.111G>T (p.Leu37=) c.3462G>T (p.Leu1154=) c.3558G>T (p.Leu1186=) c.3408G>T (p.Leu1136=) | |
5 | g.128338034C>G | CA446310581 | FBN2 | n.345G>C n.426G>C c.3561G>C (p.Leu1187=) c.111G>C (p.Leu37=) c.3462G>C (p.Leu1154=) c.3558G>C (p.Leu1186=) c.3408G>C (p.Leu1136=) | |
5 | g.128338034C>T | CA446310582 | FBN2 | n.345G>A n.426G>A c.3561G>A (p.Leu1187=) c.111G>A (p.Leu37=) c.3462G>A (p.Leu1154=) c.3558G>A (p.Leu1186=) c.3408G>A (p.Leu1136=) | |
5 | g.128338035A>C | CA360759285 | FBN2 | n.344T>G n.425T>G c.3560T>G (p.Leu1187Arg) c.110T>G (p.Leu37Arg) c.3461T>G (p.Leu1154Arg) c.3557T>G (p.Leu1186Arg) c.3407T>G (p.Leu1136Arg) | |
5 | g.128338035A>G | CA360759286 | FBN2 | n.344T>C n.425T>C c.3560T>C (p.Leu1187Pro) c.110T>C (p.Leu37Pro) c.3461T>C (p.Leu1154Pro) c.3557T>C (p.Leu1186Pro) c.3407T>C (p.Leu1136Pro) | |
5 | g.128338035A>T | CA360759288 | FBN2 | n.344T>A n.425T>A c.3560T>A (p.Leu1187Gln) c.110T>A (p.Leu37Gln) c.3461T>A (p.Leu1154Gln) c.3557T>A (p.Leu1186Gln) c.3407T>A (p.Leu1136Gln) | |
5 | g.128338036G>A | CA3395201 | FBN2 | n.343C>T n.424C>T c.3559C>T (p.Leu1187=) c.109C>T (p.Leu37=) c.3460C>T (p.Leu1154=) c.3556C>T (p.Leu1186=) c.3406C>T (p.Leu1136=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338036G>C | CA360759291 | FBN2 | n.343C>G n.424C>G c.3559C>G (p.Leu1187Val) c.109C>G (p.Leu37Val) c.3460C>G (p.Leu1154Val) c.3556C>G (p.Leu1186Val) c.3406C>G (p.Leu1136Val) | |
5 | g.128338036G= | CA1581270733 | FBN2 | n.343C= n.424C= c.3559C= (p.Leu1187=) c.109C= (p.Leu37=) c.3460C= (p.Leu1154=) c.3556C= (p.Leu1186=) c.3406C= (p.Leu1136=) | |
5 | g.128338036G>T | CA360759292 | FBN2 | n.343C>A n.424C>A c.3559C>A (p.Leu1187Met) c.109C>A (p.Leu37Met) c.3460C>A (p.Leu1154Met) c.3556C>A (p.Leu1186Met) c.3406C>A (p.Leu1136Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128338037T>A | CA446310587 | FBN2 | n.342A>T n.423A>T c.3558A>T (p.Pro1186=) c.108A>T (p.Pro36=) c.3459A>T (p.Pro1153=) c.3555A>T (p.Pro1185=) c.3405A>T (p.Pro1135=) | |
5 | g.128338037T>C | CA446310588 | FBN2 | n.342A>G n.423A>G c.3558A>G (p.Pro1186=) c.108A>G (p.Pro36=) c.3459A>G (p.Pro1153=) c.3555A>G (p.Pro1185=) c.3405A>G (p.Pro1135=) | |
5 | g.128338037T>G | CA446310589 | FBN2 | n.342A>C n.423A>C c.3558A>C (p.Pro1186=) c.108A>C (p.Pro36=) c.3459A>C (p.Pro1153=) c.3555A>C (p.Pro1185=) c.3405A>C (p.Pro1135=) | |
5 | g.128338038G>A | CA360759293 | FBN2 | n.341C>T n.422C>T c.3557C>T (p.Pro1186Leu) c.107C>T (p.Pro36Leu) c.3458C>T (p.Pro1153Leu) c.3554C>T (p.Pro1185Leu) c.3404C>T (p.Pro1135Leu) | gnomAD v4 |
5 | g.128338038G>C | CA360759295 | FBN2 | n.341C>G n.422C>G c.3557C>G (p.Pro1186Arg) c.107C>G (p.Pro36Arg) c.3458C>G (p.Pro1153Arg) c.3554C>G (p.Pro1185Arg) c.3404C>G (p.Pro1135Arg) | |
5 | g.128338038G>T | CA360759297 | FBN2 | n.341C>A n.422C>A c.3557C>A (p.Pro1186Gln) c.107C>A (p.Pro36Gln) c.3458C>A (p.Pro1153Gln) c.3554C>A (p.Pro1185Gln) c.3404C>A (p.Pro1135Gln) | |
5 | g.128338040del | CA2675117525 | FBN2 | n.341del n.422del c.3557del (p.Pro1186HisfsTer21) c.107del (p.Pro36HisfsTer21) c.3458del (p.Pro1153HisfsTer21) c.3554del (p.Pro1185HisfsTer21) c.3404del (p.Pro1135HisfsTer21) | gnomAD v4 |
5 | g.128338038_128338039insTGACTGCCCACT | CA2675117526 | FBN2 | n.340_341insAGTGGGCAGTCA n.421_422insAGTGGGCAGTCA c.3556_3557insAGTGGGCAGTCA (p.Pro1186delinsGlnTrpAlaValThr) c.106_107insAGTGGGCAGTCA (p.Pro36delinsGlnTrpAlaValThr) c.3457_3458insAGTGGGCAGTCA (p.Pro1153delinsGlnTrpAlaValThr) c.3553_3554insAGTGGGCAGTCA (p.Pro1185delinsGlnTrpAlaValThr) c.3403_3404insAGTGGGCAGTCA (p.Pro1135delinsGlnTrpAlaValThr) | gnomAD v4 |
5 | g.128338039G>A | CA360759299 | FBN2 | n.340C>T n.421C>T c.3556C>T (p.Pro1186Ser) c.106C>T (p.Pro36Ser) c.3457C>T (p.Pro1153Ser) c.3553C>T (p.Pro1185Ser) c.3403C>T (p.Pro1135Ser) | |
5 | g.128338039G>C | CA360759300 | FBN2 | n.340C>G n.421C>G c.3556C>G (p.Pro1186Ala) c.106C>G (p.Pro36Ala) c.3457C>G (p.Pro1153Ala) c.3553C>G (p.Pro1185Ala) c.3403C>G (p.Pro1135Ala) | |
5 | g.128338039G>T | CA360759301 | FBN2 | n.340C>A n.421C>A c.3556C>A (p.Pro1186Thr) c.106C>A (p.Pro36Thr) c.3457C>A (p.Pro1153Thr) c.3553C>A (p.Pro1185Thr) c.3403C>A (p.Pro1135Thr) | |
5 | g.128338040G>A | CA446310591 | FBN2 | n.339C>T n.420C>T c.3555C>T (p.Cys1185=) c.105C>T (p.Cys35=) c.3456C>T (p.Cys1152=) c.3552C>T (p.Cys1184=) c.3402C>T (p.Cys1134=) | |
5 | g.128338040G>C | CA360759305 | FBN2 | n.339C>G n.420C>G c.3555C>G (p.Cys1185Trp) c.105C>G (p.Cys35Trp) c.3456C>G (p.Cys1152Trp) c.3552C>G (p.Cys1184Trp) c.3402C>G (p.Cys1134Trp) | |
5 | g.128338040G>T | CA360759303 | FBN2 | n.339C>A n.420C>A c.3555C>A (p.Cys1185Ter) c.105C>A (p.Cys35Ter) c.3456C>A (p.Cys1152Ter) c.3552C>A (p.Cys1184Ter) c.3402C>A (p.Cys1134Ter) | |
5 | g.128338041C>A | CA360759307 | FBN2 | n.338G>T n.419G>T c.3554G>T (p.Cys1185Phe) c.104G>T (p.Cys35Phe) c.3455G>T (p.Cys1152Phe) c.3551G>T (p.Cys1184Phe) c.3401G>T (p.Cys1134Phe) | |
5 | g.128338041C>G | CA360759311 | FBN2 | n.338G>C n.419G>C c.3554G>C (p.Cys1185Ser) c.104G>C (p.Cys35Ser) c.3455G>C (p.Cys1152Ser) c.3551G>C (p.Cys1184Ser) c.3401G>C (p.Cys1134Ser) | gnomAD v4 |
5 | g.128338041C>T | CA360759309 | FBN2 | n.338G>A n.419G>A c.3554G>A (p.Cys1185Tyr) c.104G>A (p.Cys35Tyr) c.3455G>A (p.Cys1152Tyr) c.3551G>A (p.Cys1184Tyr) c.3401G>A (p.Cys1134Tyr) | |
5 | g.128338042A>C | CA360759315 | FBN2 | n.337T>G n.418T>G c.3553T>G (p.Cys1185Gly) c.103T>G (p.Cys35Gly) c.3454T>G (p.Cys1152Gly) c.3550T>G (p.Cys1184Gly) c.3400T>G (p.Cys1134Gly) | |
5 | g.128338042A>G | CA360759318 | FBN2 | n.337T>C n.418T>C c.3553T>C (p.Cys1185Arg) c.103T>C (p.Cys35Arg) c.3454T>C (p.Cys1152Arg) c.3550T>C (p.Cys1184Arg) c.3400T>C (p.Cys1134Arg) | |
5 | g.128338042A>T | CA360759316 | FBN2 | n.337T>A n.418T>A c.3553T>A (p.Cys1185Ser) c.103T>A (p.Cys35Ser) c.3454T>A (p.Cys1152Ser) c.3550T>A (p.Cys1184Ser) c.3400T>A (p.Cys1134Ser) | |
5 | g.128338043G>A | CA446310598 | FBN2 | n.336C>T n.417C>T c.3552C>T (p.Asp1184=) c.102C>T (p.Asp34=) c.3453C>T (p.Asp1151=) c.3549C>T (p.Asp1183=) c.3399C>T (p.Asp1133=) | |
5 | g.128338043G>C | CA360759320 | FBN2 | n.336C>G n.417C>G c.3552C>G (p.Asp1184Glu) c.102C>G (p.Asp34Glu) c.3453C>G (p.Asp1151Glu) c.3549C>G (p.Asp1183Glu) c.3399C>G (p.Asp1133Glu) | |
5 | g.128338043G>T | CA360759321 | FBN2 | n.336C>A n.417C>A c.3552C>A (p.Asp1184Glu) c.102C>A (p.Asp34Glu) c.3453C>A (p.Asp1151Glu) c.3549C>A (p.Asp1183Glu) c.3399C>A (p.Asp1133Glu) | |
5 | g.128338044T>A | CA360759324 | FBN2 | n.335A>T n.416A>T c.3551A>T (p.Asp1184Val) c.101A>T (p.Asp34Val) c.3452A>T (p.Asp1151Val) c.3548A>T (p.Asp1183Val) c.3398A>T (p.Asp1133Val) | |
5 | g.128338044T>C | CA360759325 | FBN2 | n.335A>G n.416A>G c.3551A>G (p.Asp1184Gly) c.101A>G (p.Asp34Gly) c.3452A>G (p.Asp1151Gly) c.3548A>G (p.Asp1183Gly) c.3398A>G (p.Asp1133Gly) | |
5 | g.128338044T>G | CA360759326 | FBN2 | n.335A>C n.416A>C c.3551A>C (p.Asp1184Ala) c.101A>C (p.Asp34Ala) c.3452A>C (p.Asp1151Ala) c.3548A>C (p.Asp1183Ala) c.3398A>C (p.Asp1133Ala) | |
5 | g.128338045C>A | CA360759327 | FBN2 | n.334G>T n.415G>T c.3550G>T (p.Asp1184Tyr) c.100G>T (p.Asp34Tyr) c.3451G>T (p.Asp1151Tyr) c.3547G>T (p.Asp1183Tyr) c.3397G>T (p.Asp1133Tyr) | |
5 | g.128338045C>G | CA360759328 | FBN2 | n.334G>C n.415G>C c.3550G>C (p.Asp1184His) c.100G>C (p.Asp34His) c.3451G>C (p.Asp1151His) c.3547G>C (p.Asp1183His) c.3397G>C (p.Asp1133His) | |
5 | g.128338045C>T | CA360759329 | FBN2 | n.334G>A n.415G>A c.3550G>A (p.Asp1184Asn) c.100G>A (p.Asp34Asn) c.3451G>A (p.Asp1151Asn) c.3547G>A (p.Asp1183Asn) c.3397G>A (p.Asp1133Asn) | |
5 | g.128338046A>C | CA360759330 | FBN2 | n.333T>G n.414T>G c.3549T>G (p.Cys1183Trp) c.99T>G (p.Cys33Trp) c.3450T>G (p.Cys1150Trp) c.3546T>G (p.Cys1182Trp) c.3396T>G (p.Cys1132Trp) | |
5 | g.128338046A>G | CA446310604 | FBN2 | n.333T>C n.414T>C c.3549T>C (p.Cys1183=) c.99T>C (p.Cys33=) c.3450T>C (p.Cys1150=) c.3546T>C (p.Cys1182=) c.3396T>C (p.Cys1132=) | |
5 | g.128338046A>T | CA360759331 | FBN2 | n.333T>A n.414T>A c.3549T>A (p.Cys1183Ter) c.99T>A (p.Cys33Ter) c.3450T>A (p.Cys1150Ter) c.3546T>A (p.Cys1182Ter) c.3396T>A (p.Cys1132Ter) | |
5 | g.128338047C>A | CA360759334 | FBN2 | n.332G>T n.413G>T c.3548G>T (p.Cys1183Phe) c.98G>T (p.Cys33Phe) c.3449G>T (p.Cys1150Phe) c.3545G>T (p.Cys1182Phe) c.3395G>T (p.Cys1132Phe) | |
5 | g.128338047C>G | CA360759333 | FBN2 | n.332G>C n.413G>C c.3548G>C (p.Cys1183Ser) c.98G>C (p.Cys33Ser) c.3449G>C (p.Cys1150Ser) c.3545G>C (p.Cys1182Ser) c.3395G>C (p.Cys1132Ser) | |
5 | g.128338047C>T | CA360759332 | FBN2 | n.332G>A n.413G>A c.3548G>A (p.Cys1183Tyr) c.98G>A (p.Cys33Tyr) c.3449G>A (p.Cys1150Tyr) c.3545G>A (p.Cys1182Tyr) c.3395G>A (p.Cys1132Tyr) | COSMIC COSMIC |
5 | g.128338048A>C | CA360759335 | FBN2 | n.331T>G n.412T>G c.3547T>G (p.Cys1183Gly) c.97T>G (p.Cys33Gly) c.3448T>G (p.Cys1150Gly) c.3544T>G (p.Cys1182Gly) c.3394T>G (p.Cys1132Gly) | |
5 | g.128338048A>G | CA360759336 | FBN2 | n.331T>C n.412T>C c.3547T>C (p.Cys1183Arg) c.97T>C (p.Cys33Arg) c.3448T>C (p.Cys1150Arg) c.3544T>C (p.Cys1182Arg) c.3394T>C (p.Cys1132Arg) | ClinVar |
5 | g.128338048A>T | CA360759337 | FBN2 | n.331T>A n.412T>A c.3547T>A (p.Cys1183Ser) c.97T>A (p.Cys33Ser) c.3448T>A (p.Cys1150Ser) c.3544T>A (p.Cys1182Ser) c.3394T>A (p.Cys1132Ser) | |
5 | g.128338049C>A | CA3395202 | FBN2 | n.330G>T n.411G>T c.3546G>T (p.Gln1182His) c.96G>T (p.Gln32His) c.3447G>T (p.Gln1149His) c.3543G>T (p.Gln1181His) c.3393G>T (p.Gln1131His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128338049C= | CA1581270734 | FBN2 | n.330G= n.411G= c.3546G= (p.Gln1182=) c.96G= (p.Gln32=) c.3447G= (p.Gln1149=) c.3543G= (p.Gln1181=) c.3393G= (p.Gln1131=) | |
5 | g.128338049C>G | CA360759338 | FBN2 | n.330G>C n.411G>C c.3546G>C (p.Gln1182His) c.96G>C (p.Gln32His) c.3447G>C (p.Gln1149His) c.3543G>C (p.Gln1181His) c.3393G>C (p.Gln1131His) | |
5 | g.128338049C>T | CA446310609 | FBN2 | n.330G>A n.411G>A c.3546G>A (p.Gln1182=) c.96G>A (p.Gln32=) c.3447G>A (p.Gln1149=) c.3543G>A (p.Gln1181=) c.3393G>A (p.Gln1131=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128338050T>A | CA360759339 | FBN2 | n.329A>T n.410A>T c.3545A>T (p.Gln1182Leu) c.95A>T (p.Gln32Leu) c.3446A>T (p.Gln1149Leu) c.3542A>T (p.Gln1181Leu) c.3392A>T (p.Gln1131Leu) | |
5 | g.128338050T>C | CA360759340 | FBN2 | n.329A>G n.410A>G c.3545A>G (p.Gln1182Arg) c.95A>G (p.Gln32Arg) c.3446A>G (p.Gln1149Arg) c.3542A>G (p.Gln1181Arg) c.3392A>G (p.Gln1131Arg) | gnomAD v4 |
5 | g.128338050T>G | CA360759341 | FBN2 | n.329A>C n.410A>C c.3545A>C (p.Gln1182Pro) c.95A>C (p.Gln32Pro) c.3446A>C (p.Gln1149Pro) c.3542A>C (p.Gln1181Pro) c.3392A>C (p.Gln1131Pro) | |
5 | g.128338051G>A | CA360759342 | FBN2 | n.328C>T n.409C>T c.3544C>T (p.Gln1182Ter) c.94C>T (p.Gln32Ter) c.3445C>T (p.Gln1149Ter) c.3541C>T (p.Gln1181Ter) c.3391C>T (p.Gln1131Ter) | COSMIC COSMIC |
5 | g.128338051G>C | CA360759343 | FBN2 | n.328C>G n.409C>G c.3544C>G (p.Gln1182Glu) c.94C>G (p.Gln32Glu) c.3445C>G (p.Gln1149Glu) c.3541C>G (p.Gln1181Glu) c.3391C>G (p.Gln1131Glu) | |
5 | g.128338051G>T | CA360759344 | FBN2 | n.328C>A n.409C>A c.3544C>A (p.Gln1182Lys) c.94C>A (p.Gln32Lys) c.3445C>A (p.Gln1149Lys) c.3541C>A (p.Gln1181Lys) c.3391C>A (p.Gln1131Lys) | |
5 | g.128338052A>C | CA360759346 | FBN2 | n.327T>G n.408T>G c.3543T>G (p.Phe1181Leu) c.93T>G (p.Phe31Leu) c.3444T>G (p.Phe1148Leu) c.3540T>G (p.Phe1180Leu) c.3390T>G (p.Phe1130Leu) | |
5 | g.128338052A>G | CA446310619 | FBN2 | n.327T>C n.408T>C c.3543T>C (p.Phe1181=) c.93T>C (p.Phe31=) c.3444T>C (p.Phe1148=) c.3540T>C (p.Phe1180=) c.3390T>C (p.Phe1130=) | |
5 | g.128338052A>T | CA360759345 | FBN2 | n.327T>A n.408T>A c.3543T>A (p.Phe1181Leu) c.93T>A (p.Phe31Leu) c.3444T>A (p.Phe1148Leu) c.3540T>A (p.Phe1180Leu) c.3390T>A (p.Phe1130Leu) | |
5 | g.128338053A>C | CA360759347 | FBN2 | n.326T>G n.407T>G c.3542T>G (p.Phe1181Cys) c.92T>G (p.Phe31Cys) c.3443T>G (p.Phe1148Cys) c.3539T>G (p.Phe1180Cys) c.3389T>G (p.Phe1130Cys) | |
5 | g.128338053A>G | CA360759348 | FBN2 | n.326T>C n.407T>C c.3542T>C (p.Phe1181Ser) c.92T>C (p.Phe31Ser) c.3443T>C (p.Phe1148Ser) c.3539T>C (p.Phe1180Ser) c.3389T>C (p.Phe1130Ser) | |
5 | g.128338053A>T | CA360759349 | FBN2 | n.326T>A n.407T>A c.3542T>A (p.Phe1181Tyr) c.92T>A (p.Phe31Tyr) c.3443T>A (p.Phe1148Tyr) c.3539T>A (p.Phe1180Tyr) c.3389T>A (p.Phe1130Tyr) | |
5 | g.128338054A>C | CA360759350 | FBN2 | n.325T>G n.406T>G c.3541T>G (p.Phe1181Val) c.91T>G (p.Phe31Val) c.3442T>G (p.Phe1148Val) c.3538T>G (p.Phe1180Val) c.3388T>G (p.Phe1130Val) | |
5 | g.128338054A>G | CA360759351 | FBN2 | n.325T>C n.406T>C c.3541T>C (p.Phe1181Leu) c.91T>C (p.Phe31Leu) c.3442T>C (p.Phe1148Leu) c.3538T>C (p.Phe1180Leu) c.3388T>C (p.Phe1130Leu) | |
5 | g.128338054A>T | CA360759352 | FBN2 | n.325T>A n.406T>A c.3541T>A (p.Phe1181Ile) c.91T>A (p.Phe31Ile) c.3442T>A (p.Phe1148Ile) c.3538T>A (p.Phe1180Ile) c.3388T>A (p.Phe1130Ile) | |
5 | g.128338055G>A | CA446310621 | FBN2 | n.324C>T n.405C>T c.3540C>T (p.Ser1180=) c.90C>T (p.Ser30=) c.3441C>T (p.Ser1147=) c.3537C>T (p.Ser1179=) c.3387C>T (p.Ser1129=) | |
5 | g.128338055G>C | CA360759354 | FBN2 | n.324C>G n.405C>G c.3540C>G (p.Ser1180Arg) c.90C>G (p.Ser30Arg) c.3441C>G (p.Ser1147Arg) c.3537C>G (p.Ser1179Arg) c.3387C>G (p.Ser1129Arg) | |
5 | g.128338055G>T | CA360759353 | FBN2 | n.324C>A n.405C>A c.3540C>A (p.Ser1180Arg) c.90C>A (p.Ser30Arg) c.3441C>A (p.Ser1147Arg) c.3537C>A (p.Ser1179Arg) c.3387C>A (p.Ser1129Arg) | |
5 | g.128338056C>A | CA360759355 | FBN2 | n.323G>T n.404G>T c.3539G>T (p.Ser1180Ile) c.89G>T (p.Ser30Ile) c.3440G>T (p.Ser1147Ile) c.3536G>T (p.Ser1179Ile) c.3386G>T (p.Ser1129Ile) | |
5 | g.128338056C= | CA1581270735 | FBN2 | n.323G= n.404G= c.3539G= (p.Ser1180=) c.89G= (p.Ser30=) c.3440G= (p.Ser1147=) c.3536G= (p.Ser1179=) c.3386G= (p.Ser1129=) | |
5 | g.128338056C>G | CA3395203 | FBN2 | n.323G>C n.404G>C c.3539G>C (p.Ser1180Thr) c.89G>C (p.Ser30Thr) c.3440G>C (p.Ser1147Thr) c.3536G>C (p.Ser1179Thr) c.3386G>C (p.Ser1129Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128338056C>T | CA360759356 | FBN2 | n.323G>A n.404G>A c.3539G>A (p.Ser1180Asn) c.89G>A (p.Ser30Asn) c.3440G>A (p.Ser1147Asn) c.3536G>A (p.Ser1179Asn) c.3386G>A (p.Ser1129Asn) | |
5 | g.128338057T>A | CA360759357 | FBN2 | n.322A>T n.403A>T c.3538A>T (p.Ser1180Cys) c.88A>T (p.Ser30Cys) c.3439A>T (p.Ser1147Cys) c.3535A>T (p.Ser1179Cys) c.3385A>T (p.Ser1129Cys) | |
5 | g.128338057T>C | CA360759358 | FBN2 | n.322A>G n.403A>G c.3538A>G (p.Ser1180Gly) c.88A>G (p.Ser30Gly) c.3439A>G (p.Ser1147Gly) c.3535A>G (p.Ser1179Gly) c.3385A>G (p.Ser1129Gly) | |
5 | g.128338057T>G | CA360759359 | FBN2 | n.322A>C n.403A>C c.3538A>C (p.Ser1180Arg) c.88A>C (p.Ser30Arg) c.3439A>C (p.Ser1147Arg) c.3535A>C (p.Ser1179Arg) c.3385A>C (p.Ser1129Arg) | |
5 | g.128338058G>A | CA446310625 | FBN2 | n.321C>T n.402C>T c.3537C>T (p.Gly1179=) c.87C>T (p.Gly29=) c.3438C>T (p.Gly1146=) c.3534C>T (p.Gly1178=) c.3384C>T (p.Gly1128=) | |
5 | g.128338058G>C | CA446310627 | FBN2 | n.321C>G n.402C>G c.3537C>G (p.Gly1179=) c.87C>G (p.Gly29=) c.3438C>G (p.Gly1146=) c.3534C>G (p.Gly1178=) c.3384C>G (p.Gly1128=) | |
5 | g.128338058G>T | CA446310626 | FBN2 | n.321C>A n.402C>A c.3537C>A (p.Gly1179=) c.87C>A (p.Gly29=) c.3438C>A (p.Gly1146=) c.3534C>A (p.Gly1178=) c.3384C>A (p.Gly1128=) | |
5 | g.128338059C>A | CA360759360 | FBN2 | n.320G>T n.401G>T c.3536G>T (p.Gly1179Val) c.86G>T (p.Gly29Val) c.3437G>T (p.Gly1146Val) c.3533G>T (p.Gly1178Val) c.3383G>T (p.Gly1128Val) | |
5 | g.128338059C>G | CA360759362 | FBN2 | n.320G>C n.401G>C c.3536G>C (p.Gly1179Ala) c.86G>C (p.Gly29Ala) c.3437G>C (p.Gly1146Ala) c.3533G>C (p.Gly1178Ala) c.3383G>C (p.Gly1128Ala) | |
5 | g.128338059C>T | CA360759361 | FBN2 | n.320G>A n.401G>A c.3536G>A (p.Gly1179Asp) c.86G>A (p.Gly29Asp) c.3437G>A (p.Gly1146Asp) c.3533G>A (p.Gly1178Asp) c.3383G>A (p.Gly1128Asp) | |
5 | g.128338060C>A | CA360759363 | FBN2 | n.319G>T n.400G>T c.3535G>T (p.Gly1179Cys) c.85G>T (p.Gly29Cys) c.3436G>T (p.Gly1146Cys) c.3532G>T (p.Gly1178Cys) c.3382G>T (p.Gly1128Cys) | ClinVar |
5 | g.128338060C>G | CA360759364 | FBN2 | n.319G>C n.400G>C c.3535G>C (p.Gly1179Arg) c.85G>C (p.Gly29Arg) c.3436G>C (p.Gly1146Arg) c.3532G>C (p.Gly1178Arg) c.3382G>C (p.Gly1128Arg) | |
5 | g.128338060C>T | CA360759365 | FBN2 | n.319G>A n.400G>A c.3535G>A (p.Gly1179Ser) c.85G>A (p.Gly29Ser) c.3436G>A (p.Gly1146Ser) c.3532G>A (p.Gly1178Ser) c.3382G>A (p.Gly1128Ser) | |
5 | g.128338061C>A | CA360759366 | FBN2 | n.318G>T n.399G>T c.3534G>T (p.Glu1178Asp) c.84G>T (p.Glu28Asp) c.3435G>T (p.Glu1145Asp) c.3531G>T (p.Glu1177Asp) c.3381G>T (p.Glu1127Asp) | |
5 | g.128338061C= | CA1581270736 | FBN2 | n.318G= n.399G= c.3534G= (p.Glu1178=) c.84G= (p.Glu28=) c.3435G= (p.Glu1145=) c.3531G= (p.Glu1177=) c.3381G= (p.Glu1127=) | |
5 | g.128338061C>G | CA3395204 | FBN2 | n.318G>C n.399G>C c.3534G>C (p.Glu1178Asp) c.84G>C (p.Glu28Asp) c.3435G>C (p.Glu1145Asp) c.3531G>C (p.Glu1177Asp) c.3381G>C (p.Glu1127Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128338061C>T | CA446310631 | FBN2 | n.318G>A n.399G>A c.3534G>A (p.Glu1178=) c.84G>A (p.Glu28=) c.3435G>A (p.Glu1145=) c.3531G>A (p.Glu1177=) c.3381G>A (p.Glu1127=) | gnomAD v4 |
5 | g.128338062T>A | CA360759367 | FBN2 | n.317A>T n.398A>T c.3533A>T (p.Glu1178Val) c.83A>T (p.Glu28Val) c.3434A>T (p.Glu1145Val) c.3530A>T (p.Glu1177Val) c.3380A>T (p.Glu1127Val) | |
5 | g.128338062T>C | CA360759368 | FBN2 | n.317A>G n.398A>G c.3533A>G (p.Glu1178Gly) c.83A>G (p.Glu28Gly) c.3434A>G (p.Glu1145Gly) c.3530A>G (p.Glu1177Gly) c.3380A>G (p.Glu1127Gly) | |
5 | g.128338062T>G | CA360759369 | FBN2 | n.317A>C n.398A>C c.3533A>C (p.Glu1178Ala) c.83A>C (p.Glu28Ala) c.3434A>C (p.Glu1145Ala) c.3530A>C (p.Glu1177Ala) c.3380A>C (p.Glu1127Ala) | |
5 | g.128338063C>A | CA360759370 | FBN2 | n.316G>T n.397G>T c.3532G>T (p.Glu1178Ter) c.82G>T (p.Glu28Ter) c.3433G>T (p.Glu1145Ter) c.3529G>T (p.Glu1177Ter) c.3379G>T (p.Glu1127Ter) | |
5 | g.128338063C= | CA1581270737 | FBN2 | n.316G= n.397G= c.3532G= (p.Glu1178=) c.82G= (p.Glu28=) c.3433G= (p.Glu1145=) c.3529G= (p.Glu1177=) c.3379G= (p.Glu1127=) | |
5 | g.128338063C>G | CA360759371 | FBN2 | n.316G>C n.397G>C c.3532G>C (p.Glu1178Gln) c.82G>C (p.Glu28Gln) c.3433G>C (p.Glu1145Gln) c.3529G>C (p.Glu1177Gln) c.3379G>C (p.Glu1127Gln) | COSMIC COSMIC |
5 | g.128338063C>T | CA360759372 | FBN2 | n.316G>A n.397G>A c.3532G>A (p.Glu1178Lys) c.82G>A (p.Glu28Lys) c.3433G>A (p.Glu1145Lys) c.3529G>A (p.Glu1177Lys) c.3379G>A (p.Glu1127Lys) | dbSNP gnomAD v4 COSMIC COSMIC |
5 | g.128338064A>C | CA446310634 | FBN2 | n.315T>G n.396T>G c.3531T>G (p.Thr1177=) c.81T>G (p.Thr27=) c.3432T>G (p.Thr1144=) c.3528T>G (p.Thr1176=) c.3378T>G (p.Thr1126=) | |
5 | g.128338064A>G | CA446310635 | FBN2 | n.315T>C n.396T>C c.3531T>C (p.Thr1177=) c.81T>C (p.Thr27=) c.3432T>C (p.Thr1144=) c.3528T>C (p.Thr1176=) c.3378T>C (p.Thr1126=) | |
5 | g.128338064A>T | CA446310636 | FBN2 | n.315T>A n.396T>A c.3531T>A (p.Thr1177=) c.81T>A (p.Thr27=) c.3432T>A (p.Thr1144=) c.3528T>A (p.Thr1176=) c.3378T>A (p.Thr1126=) | |
5 | g.128338065G>A | CA360759374 | FBN2 | n.314C>T n.395C>T c.3530C>T (p.Thr1177Ile) c.80C>T (p.Thr27Ile) c.3431C>T (p.Thr1144Ile) c.3527C>T (p.Thr1176Ile) c.3377C>T (p.Thr1126Ile) | |
5 | g.128338065G>C | CA360759376 | FBN2 | n.314C>G n.395C>G c.3530C>G (p.Thr1177Ser) c.80C>G (p.Thr27Ser) c.3431C>G (p.Thr1144Ser) c.3527C>G (p.Thr1176Ser) c.3377C>G (p.Thr1126Ser) | |
5 | g.128338065G= | CA1581270738 | FBN2 | n.314C= n.395C= c.3530C= (p.Thr1177=) c.80C= (p.Thr27=) c.3431C= (p.Thr1144=) c.3527C= (p.Thr1176=) c.3377C= (p.Thr1126=) | |
5 | g.128338065G>T | CA360759373 | FBN2 | n.314C>A n.395C>A c.3530C>A (p.Thr1177Asn) c.80C>A (p.Thr27Asn) c.3431C>A (p.Thr1144Asn) c.3527C>A (p.Thr1176Asn) c.3377C>A (p.Thr1126Asn) | dbSNP gnomAD v2 |