Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48537690_48537700del | CA2695220425 | FBN1 | c.649_659del (p.Trp217LeufsTer2) c.636+13_636+23del (n.636+13_636+23del) | |
15 | g.48537690_48537691delinsGT | CA2175539388 | FBN1 | c.656_657delinsAC (p.His219=) c.636+20_636+21delinsAC (n.636+20_636+21delinsAC) | |
15 | g.48537691del | CA270013508 | FBN1 | c.656del (p.His219ProfsTer?) c.636+20del (n.636+20del) | dbSNP |
15 | g.48537691T>A | CA392445949 | FBN1 | c.656A>T (p.His219Leu) c.636+20A>T (n.636+20A>T) | |
15 | g.48537691T>C | CA392445950 | FBN1 | c.656A>G (p.His219Arg) c.636+20A>G (n.636+20A>G) | |
15 | g.48537691T>G | CA392445951 | FBN1 | c.656A>C (p.His219Pro) c.636+20A>C (n.636+20A>C) | |
15 | g.48537692G>A | CA392445953 | FBN1 | c.655C>T (p.His219Tyr) c.636+19C>T (n.636+19C>T) | dbSNP |
15 | g.48537692G>C | CA392445954 | FBN1 | c.655C>G (p.His219Asp) c.636+19C>G (n.636+19C>G) | |
15 | g.48537692G= | CA2175539390 | FBN1 | c.655C= (p.His219=) c.636+19C= (n.636+19C=) | |
15 | g.48537692G>T | CA392445952 | FBN1 | c.655C>A (p.His219Asn) c.636+19C>A (n.636+19C>A) | |
15 | g.48537693G>A | CA490090088 | FBN1 | c.654C>T (p.Gly218=) c.636+18C>T (n.636+18C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48537693G>C | CA056986 | FBN1 | c.654C>G (p.Gly218=) c.636+18C>G (n.636+18C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537693G= | CA2175539391 | FBN1 | c.654C= (p.Gly218=) c.636+18C= (n.636+18C=) | |
15 | g.48537693G>T | CA490090090 | FBN1 | c.654C>A (p.Gly218=) c.636+18C>A (n.636+18C>A) | |
15 | g.48537694C>A | CA392445955 | FBN1 | c.653G>T (p.Gly218Val) c.636+17G>T (n.636+17G>T) | |
15 | g.48537694C= | CA2175539392 | FBN1 | c.653G= (p.Gly218=) c.636+17G= (n.636+17G=) | |
15 | g.48537694C>G | CA392445956 | FBN1 | c.653G>C (p.Gly218Ala) c.636+17G>C (n.636+17G>C) | |
15 | g.48537694C>T | CA056975 | FBN1 | c.653G>A (p.Gly218Asp) c.636+17G>A (n.636+17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537697dup | CA2695220426 | FBN1 | c.653dup (p.His219ProfsTer4) c.636+17dup (n.636+17dup) | ClinVar |
15 | g.48537697del | CA2580089603 | FBN1 | c.653del (p.Gly218AlafsTer?) c.636+17del (n.636+17del) | ClinVar |
15 | g.48537695C>A | CA392445957 | FBN1 | c.652G>T (p.Gly218Cys) c.636+16G>T (n.636+16G>T) | |
15 | g.48537695C>G | CA392445958 | FBN1 | c.652G>C (p.Gly218Arg) c.636+16G>C (n.636+16G>C) | |
15 | g.48537695C>T | CA392445959 | FBN1 | c.652G>A (p.Gly218Ser) c.636+16G>A (n.636+16G>A) | |
15 | g.48537696C>A | CA392445962 | FBN1 | c.651G>T (p.Trp217Cys) c.636+15G>T (n.636+15G>T) | |
15 | g.48537696C>G | CA392445961 | FBN1 | c.651G>C (p.Trp217Cys) c.636+15G>C (n.636+15G>C) | |
15 | g.48537696C>T | CA392445960 | FBN1 | c.651G>A (p.Trp217Ter) c.636+15G>A (n.636+15G>A) | ClinVar |
15 | g.48537697C>A | CA392445963 | FBN1 | c.650G>T (p.Trp217Leu) c.636+14G>T (n.636+14G>T) | |
15 | g.48537697C= | CA2175539393 | FBN1 | c.650G= (p.Trp217=) c.636+14G= (n.636+14G=) | |
15 | g.48537697C>G | CA392445964 | FBN1 | c.650G>C (p.Trp217Ser) c.636+14G>C (n.636+14G>C) | |
15 | g.48537697C>T | CA392445965 | FBN1 | c.650G>A (p.Trp217Ter) c.636+14G>A (n.636+14G>A) | ClinVar dbSNP |
15 | g.48537698A= | CA2175539394 | FBN1 | c.649T= (p.Trp217=) c.636+13T= (n.636+13T=) | |
15 | g.48537698A>C | CA016532 | FBN1 | c.649T>G (p.Trp217Gly) c.636+13T>G (n.636+13T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48537698A>G | CA392445966 | FBN1 | c.649T>C (p.Trp217Arg) c.636+13T>C (n.636+13T>C) | |
15 | g.48537698A>T | CA392445967 | FBN1 | c.649T>A (p.Trp217Arg) c.636+13T>A (n.636+13T>A) | |
15 | g.48537699G>A | CA490090097 | FBN1 | c.648C>T (p.Ala216=) c.636+12C>T (n.636+12C>T) | |
15 | g.48537699G>C | CA490090099 | FBN1 | c.648C>G (p.Ala216=) c.636+12C>G (n.636+12C>G) | |
15 | g.48537699G>T | CA490090101 | FBN1 | c.648C>A (p.Ala216=) c.636+12C>A (n.636+12C>A) | |
15 | g.48537700del | CA2695220427 | FBN1 | c.648del (p.Trp217GlyfsTer?) c.636+12del (n.636+12del) | |
15 | g.48537700G>A | CA392445968 | FBN1 | c.647C>T (p.Ala216Val) c.636+11C>T (n.636+11C>T) | |
15 | g.48537700G>C | CA392445970 | FBN1 | c.647C>G (p.Ala216Gly) c.636+11C>G (n.636+11C>G) | |
15 | g.48537700G>T | CA392445969 | FBN1 | c.647C>A (p.Ala216Asp) c.636+11C>A (n.636+11C>A) | |
15 | g.48537701C>A | CA392445971 | FBN1 | c.646G>T (p.Ala216Ser) c.636+10G>T (n.636+10G>T) | |
15 | g.48537701C>G | CA392445972 | FBN1 | c.646G>C (p.Ala216Pro) c.636+10G>C (n.636+10G>C) | |
15 | g.48537701C>T | CA392445973 | FBN1 | c.646G>A (p.Ala216Thr) c.636+10G>A (n.636+10G>A) | |
15 | g.48537702del | CA2695220428 | FBN1 | c.645del (p.Ala216ProfsTer?) c.636+9del (n.636+9del) | |
15 | g.48537702T>A | CA490090104 | FBN1 | c.645A>T (p.Arg215=) c.636+9A>T (n.636+9A>T) | ClinVar dbSNP |
15 | g.48537702T>C | CA490090103 | FBN1 | c.645A>G (p.Arg215=) c.636+9A>G (n.636+9A>G) | |
15 | g.48537702T>G | CA056822 | FBN1 | c.645A>C (p.Arg215=) c.636+9A>C (n.636+9A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537702T= | CA2175539395 | FBN1 | c.645A= (p.Arg215=) c.636+9A= (n.636+9A=) | |
15 | g.48537703C>A | CA392445974 | FBN1 | c.644G>T (p.Arg215Leu) c.636+8G>T (n.636+8G>T) |