Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48526103_48526114delinsATGCATGCTGTT | CA2175542881 | FBN1 | c.988+16_988+27delinsAACAGCATGCAT (n.988+16_988+27delinsAACAGCATGCAT) c.636+11597_636+11608delinsAACAGCATGCAT (n.636+11597_636+11608delinsAACAGCATGCAT) | |
15 | g.48526104T>C | CA2628336816 | FBN1 | c.988+26A>G (n.988+26A>G) c.636+11607A>G (n.636+11607A>G) | gnomAD v4 |
15 | g.48526104T= | CA2175542884 | FBN1 | c.988+26A= (n.988+26A=) c.636+11607A= (n.636+11607A=) | |
15 | g.48526106_48526116del | CA713425363 | FBN1 | c.988+16_988+26del (n.988+16_988+26del) c.636+11597_636+11607del (n.636+11597_636+11607del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48526105G>A | CA2628336817 | FBN1 | c.988+25C>T (n.988+25C>T) c.636+11606C>T (n.636+11606C>T) | gnomAD v4 |
15 | g.48526105dup | CA2175542885 | FBN1 | c.988+25dup (n.988+25dup) c.636+11606dup (n.636+11606dup) | dbSNP |
15 | g.48526106C>A | CA060502 | FBN1 | c.988+24G>T (n.988+24G>T) c.636+11605G>T (n.636+11605G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48526106C= | CA2175542887 | FBN1 | c.988+24G= (n.988+24G=) c.636+11605G= (n.636+11605G=) | |
15 | g.48526107A>G | CA2628336818 | FBN1 | c.988+23T>C (n.988+23T>C) c.636+11604T>C (n.636+11604T>C) | gnomAD v4 |
15 | g.48526108T>C | CA269566852 | FBN1 | c.988+22A>G (n.988+22A>G) c.636+11603A>G (n.636+11603A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48526108T>G | CA269566857 | FBN1 | c.988+22A>C (n.988+22A>C) c.636+11603A>C (n.636+11603A>C) | dbSNP |
15 | g.48526108T= | CA2175542890 | FBN1 | c.988+22A= (n.988+22A=) c.636+11603A= (n.636+11603A=) | |
15 | g.48526109_48526110delinsGC | CA2175542892 | FBN1 | c.988+20_988+21delinsGC (n.988+20_988+21delinsGC) c.636+11601_636+11602delinsGC (n.636+11601_636+11602delinsGC) | |
15 | g.48526110del | CA060487 | FBN1 | c.988+20del (n.988+20del) c.636+11601del (n.636+11601del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48526110C>A | CA060498 | FBN1 | c.988+20G>T (n.988+20G>T) c.636+11601G>T (n.636+11601G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48526110C= | CA2175542896 | FBN1 | c.988+20G= (n.988+20G=) c.636+11601G= (n.636+11601G=) | |
15 | g.48526110C>T | CA060491 | FBN1 | c.988+20G>A (n.988+20G>A) c.636+11601G>A (n.636+11601G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48526112del | CA2628336819 | FBN1 | c.988+18del (n.988+18del) c.636+11599del (n.636+11599del) | gnomAD v4 |
15 | g.48526112G>A | CA2628336820 | FBN1 | c.988+18C>T (n.988+18C>T) c.636+11599C>T (n.636+11599C>T) | gnomAD v4 |
15 | g.48526112G>C | CA2628336821 | FBN1 | c.988+18C>G (n.988+18C>G) c.636+11599C>G (n.636+11599C>G) | gnomAD v4 |
15 | g.48526113T>C | CA060482 | FBN1 | c.988+17A>G (n.988+17A>G) c.636+11598A>G (n.636+11598A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48526113T= | CA2175542901 | FBN1 | c.988+17A= (n.988+17A=) c.636+11598A= (n.636+11598A=) | |
15 | g.48526114T>A | CA269566874 | FBN1 | c.988+16A>T (n.988+16A>T) c.636+11597A>T (n.636+11597A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48526114T>C | CA617841428 | FBN1 | c.988+16A>G (n.988+16A>G) c.636+11597A>G (n.636+11597A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48526114T= | CA2175542905 | FBN1 | c.988+16A= (n.988+16A=) c.636+11597A= (n.636+11597A=) | |
15 | g.48526115T>C | CA269566879 | FBN1 | c.988+15A>G (n.988+15A>G) c.636+11596A>G (n.636+11596A>G) | dbSNP gnomAD v4 |
15 | g.48526115T= | CA2175542907 | FBN1 | c.988+15A= (n.988+15A=) c.636+11596A= (n.636+11596A=) | |
15 | g.48526116G= | CA2175542908 | FBN1 | c.988+14C= (n.988+14C=) c.636+11595C= (n.636+11595C=) | |
15 | g.48526116G>T | CA269566881 | FBN1 | c.988+14C>A (n.988+14C>A) c.636+11595C>A (n.636+11595C>A) | ClinVar dbSNP gnomAD v4 |
15 | g.48526117T>C | CA269566882 | FBN1 | c.988+13A>G (n.988+13A>G) c.636+11594A>G (n.636+11594A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48526117T= | CA2175542910 | FBN1 | c.988+13A= (n.988+13A=) c.636+11594A= (n.636+11594A=) | |
15 | g.48526117_48526118insGTG | CA2628336822 | FBN1 | c.988+12_988+13insCAC (n.988+12_988+13insCAC) c.636+11593_636+11594insCAC (n.636+11593_636+11594insCAC) | gnomAD v4 |
15 | g.48526119A= | CA2175542912 | FBN1 | c.988+11T= (n.988+11T=) c.636+11592T= (n.636+11592T=) | |
15 | g.48526119A>C | CA2175542913 | FBN1 | c.988+11T>G (n.988+11T>G) c.636+11592T>G (n.636+11592T>G) | ClinVar dbSNP |
15 | g.48526119A>G | CA2175542914 | FBN1 | c.988+11T>C (n.988+11T>C) c.636+11592T>C (n.636+11592T>C) | dbSNP |
15 | g.48526121T>C | CA2575717659 | FBN1 | c.988+9A>G (n.988+9A>G) c.636+11590A>G (n.636+11590A>G) | |
15 | g.48526121T>G | CA913191216 | FBN1 | c.988+9A>C (n.988+9A>C) c.636+11590A>C (n.636+11590A>C) | ClinVar dbSNP |
15 | g.48526121T= | CA2175542917 | FBN1 | c.988+9A= (n.988+9A=) c.636+11590A= (n.636+11590A=) | |
15 | g.48526126C>G | CA2518650656 | FBN1 | c.988+4G>C (n.988+4G>C) c.636+11585G>C (n.636+11585G>C) | |
15 | g.48526127T>C | CA2575717660 | FBN1 | c.988+3A>G (n.988+3A>G) c.636+11584A>G (n.636+11584A>G) | ClinVar gnomAD v4 |
15 | g.48526128A>C | CA392349437 | FBN1 | c.988+2T>G (n.988+2T>G) c.636+11583T>G (n.636+11583T>G) | |
15 | g.48526128A>G | CA392349439 | FBN1 | c.988+2T>C (n.988+2T>C) c.636+11583T>C (n.636+11583T>C) | |
15 | g.48526128A>T | CA392349441 | FBN1 | c.988+2T>A (n.988+2T>A) c.636+11583T>A (n.636+11583T>A) | |
15 | g.48526129C>A | CA392349444 | FBN1 | c.988+1G>T (n.988+1G>T) c.636+11582G>T (n.636+11582G>T) | |
15 | g.48526129C>G | CA392349448 | FBN1 | c.988+1G>C (n.988+1G>C) c.636+11582G>C (n.636+11582G>C) | |
15 | g.48526129C>T | CA392349446 | FBN1 | c.988+1G>A (n.988+1G>A) c.636+11582G>A (n.636+11582G>A) | |
15 | g.48526130C>A | CA392349451 | FBN1 | c.988G>T (p.Asp330Tyr) c.636+11581G>T (n.636+11581G>T) | |
15 | g.48526130C>G | CA392349452 | FBN1 | c.988G>C (p.Asp330His) c.636+11581G>C (n.636+11581G>C) | |
15 | g.48526130C>T | CA392349455 | FBN1 | c.988G>A (p.Asp330Asn) c.636+11581G>A (n.636+11581G>A) | |
15 | g.48526131T>A | CA490028560 | FBN1 | c.987A>T (p.Ile329=) c.636+11580A>T (n.636+11580A>T) |