UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48526065T>A | CA2575717658 | FBN1 | c.988+65A>T (n.988+65A>T) c.636+11646A>T (n.636+11646A>T) | gnomAD v4 |
| 15 | g.48526065T>C | CA2804074360 | FBN1 | c.988+65A>G (n.988+65A>G) c.636+11646A>G (n.636+11646A>G) | |
| 15 | g.48526065T= | CA2175542842 | FBN1 | c.988+65A= (n.988+65A=) c.636+11646A= (n.636+11646A=) | |
| 15 | g.48526066dup | CA269566804 | FBN1 | c.988+64dup (n.988+64dup) c.636+11645dup (n.636+11645dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526067G>C | CA713425339 | FBN1 | c.988+63C>G (n.988+63C>G) c.636+11644C>G (n.636+11644C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48526067G= | CA2175542846 | FBN1 | c.988+63C= (n.988+63C=) c.636+11644C= (n.636+11644C=) | |
| 15 | g.48526067G>T | CA2521473055 | FBN1 | c.988+63C>A (n.988+63C>A) c.636+11644C>A (n.636+11644C>A) | |
| 15 | g.48526068A>G | CA2628336804 | FBN1 | c.988+62T>C (n.988+62T>C) c.636+11643T>C (n.636+11643T>C) | gnomAD v4 |
| 15 | g.48526071G>A | CA2175542852 | FBN1 | c.988+59C>T (n.988+59C>T) c.636+11640C>T (n.636+11640C>T) | dbSNP |
| 15 | g.48526071G= | CA2175542851 | FBN1 | c.988+59C= (n.988+59C=) c.636+11640C= (n.636+11640C=) | |
| 15 | g.48526071G>T | CA2628336805 | FBN1 | c.988+59C>A (n.988+59C>A) c.636+11640C>A (n.636+11640C>A) | gnomAD v4 |
| 15 | g.48526071_48526075delinsGTTGT | CA2175542850 | FBN1 | c.988+55_988+59delinsACAAC (n.988+55_988+59delinsACAAC) c.636+11636_636+11640delinsACAAC (n.636+11636_636+11640delinsACAAC) | |
| 15 | g.48526072T>C | CA2628336806 | FBN1 | c.988+58A>G (n.988+58A>G) c.636+11639A>G (n.636+11639A>G) | gnomAD v4 |
| 15 | g.48526077_48526080del | CA269566806 | FBN1 | c.988+55_988+58del (n.988+55_988+58del) c.636+11636_636+11639del (n.636+11636_636+11639del) | dbSNP gnomAD v4 |
| 15 | g.48526073T>C | CA2628336807 | FBN1 | c.988+57A>G (n.988+57A>G) c.636+11638A>G (n.636+11638A>G) | gnomAD v4 |
| 15 | g.48526073T>G | CA269566809 | FBN1 | c.988+57A>C (n.988+57A>C) c.636+11638A>C (n.636+11638A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526073T= | CA2175542855 | FBN1 | c.988+57A= (n.988+57A=) c.636+11638A= (n.636+11638A=) | |
| 15 | g.48526074G>A | CA656136042 | FBN1 | c.988+56C>T (n.988+56C>T) c.636+11637C>T (n.636+11637C>T) | dbSNP gnomAD v4 COSMIC |
| 15 | g.48526074G= | CA2175542856 | FBN1 | c.988+56C= (n.988+56C=) c.636+11637C= (n.636+11637C=) | |
| 15 | g.48526075_48526077del | CA2628336808 | FBN1 | c.988+53_988+55del (n.988+53_988+55del) c.636+11634_636+11636del (n.636+11634_636+11636del) | gnomAD v4 |
| 15 | g.48526077T>A | CA2804074361 | FBN1 | c.988+53A>T (n.988+53A>T) c.636+11634A>T (n.636+11634A>T) | |
| 15 | g.48526078G>A | CA2175542859 | FBN1 | c.988+52C>T (n.988+52C>T) c.636+11633C>T (n.636+11633C>T) | dbSNP |
| 15 | g.48526078G>C | CA269566822 | FBN1 | c.988+52C>G (n.988+52C>G) c.636+11633C>G (n.636+11633C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48526078G= | CA2175542857 | FBN1 | c.988+52C= (n.988+52C=) c.636+11633C= (n.636+11633C=) | |
| 15 | g.48526078G>T | CA617841417 | FBN1 | c.988+52C>A (n.988+52C>A) c.636+11633C>A (n.636+11633C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526079T>C | CA2628336809 | FBN1 | c.988+51A>G (n.988+51A>G) c.636+11632A>G (n.636+11632A>G) | gnomAD v4 |
| 15 | g.48526081A= | CA2175542862 | FBN1 | c.988+49T= (n.988+49T=) c.636+11630T= (n.636+11630T=) | |
| 15 | g.48526081A>T | CA060521 | FBN1 | c.988+49T>A (n.988+49T>A) c.636+11630T>A (n.636+11630T>A) | dbSNP ExAC gnomAD v2 |
| 15 | g.48526082T>C | CA914003132 | FBN1 | c.988+48A>G (n.988+48A>G) c.636+11629A>G (n.636+11629A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526082T= | CA2175542865 | FBN1 | c.988+48A= (n.988+48A=) c.636+11629A= (n.636+11629A=) | |
| 15 | g.48526083G>C | CA2527268945 | FBN1 | c.988+47C>G (n.988+47C>G) c.636+11628C>G (n.636+11628C>G) | |
| 15 | g.48526084G>A | CA617841419 | FBN1 | c.988+46C>T (n.988+46C>T) c.636+11627C>T (n.636+11627C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48526084G= | CA2175542867 | FBN1 | c.988+46C= (n.988+46C=) c.636+11627C= (n.636+11627C=) | |
| 15 | g.48526084G>T | CA2628336810 | FBN1 | c.988+46C>A (n.988+46C>A) c.636+11627C>A (n.636+11627C>A) | gnomAD v4 |
| 15 | g.48526089_48526092del | CA2628336811 | FBN1 | c.988+41_988+44del (n.988+41_988+44del) c.636+11622_636+11625del (n.636+11622_636+11625del) | gnomAD v4 |
| 15 | g.48526088T>A | CA060519 | FBN1 | c.988+42A>T (n.988+42A>T) c.636+11623A>T (n.636+11623A>T) | dbSNP ExAC gnomAD v2 |
| 15 | g.48526088T>C | CA2628336812 | FBN1 | c.988+42A>G (n.988+42A>G) c.636+11623A>G (n.636+11623A>G) | gnomAD v4 |
| 15 | g.48526088T= | CA2175542869 | FBN1 | c.988+42A= (n.988+42A=) c.636+11623A= (n.636+11623A=) | |
| 15 | g.48526089G>A | CA2628336813 | FBN1 | c.988+41C>T (n.988+41C>T) c.636+11622C>T (n.636+11622C>T) | gnomAD v4 |
| 15 | g.48526089G>C | CA060514 | FBN1 | c.988+41C>G (n.988+41C>G) c.636+11622C>G (n.636+11622C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526089G= | CA2175542871 | FBN1 | c.988+41C= (n.988+41C=) c.636+11622C= (n.636+11622C=) | |
| 15 | g.48526091C>G | CA2804074365 | FBN1 | c.988+39G>C (n.988+39G>C) c.636+11620G>C (n.636+11620G>C) | |
| 15 | g.48526094A>C | CA2628336814 | FBN1 | c.988+36T>G (n.988+36T>G) c.636+11617T>G (n.636+11617T>G) | gnomAD v4 |
| 15 | g.48526095del | CA2628336815 | FBN1 | c.988+35del (n.988+35del) c.636+11616del (n.636+11616del) | gnomAD v4 |
| 15 | g.48526095C= | CA2175542872 | FBN1 | c.988+35G= (n.988+35G=) c.636+11616G= (n.636+11616G=) | |
| 15 | g.48526095C>T | CA617841425 | FBN1 | c.988+35G>A (n.988+35G>A) c.636+11616G>A (n.636+11616G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48526096A= | CA2175542874 | FBN1 | c.988+34T= (n.988+34T=) c.636+11615T= (n.636+11615T=) | |
| 15 | g.48526096A>G | CA269566840 | FBN1 | c.988+34T>C (n.988+34T>C) c.636+11615T>C (n.636+11615T>C) | dbSNP |
| 15 | g.48526097C>A | CA269566844 | FBN1 | c.988+33G>T (n.988+33G>T) c.636+11614G>T (n.636+11614G>T) | dbSNP gnomAD v4 |
| 15 | g.48526097C= | CA2175542876 | FBN1 | c.988+33G= (n.988+33G=) c.636+11614G= (n.636+11614G=) | |
| 15 | g.48526097C>G | CA617841426 | FBN1 | c.988+33G>C (n.988+33G>C) c.636+11614G>C (n.636+11614G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526097C>T | CA060511 | FBN1 | c.988+33G>A (n.988+33G>A) c.636+11614G>A (n.636+11614G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526098A= | CA2175542878 | FBN1 | c.988+32T= (n.988+32T=) c.636+11613T= (n.636+11613T=) | |
| 15 | g.48526098A>G | CA060507 | FBN1 | c.988+32T>C (n.988+32T>C) c.636+11613T>C (n.636+11613T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526101C>A | CA617841427 | FBN1 | c.988+29G>T (n.988+29G>T) c.636+11610G>T (n.636+11610G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48526101C= | CA2175542880 | FBN1 | c.988+29G= (n.988+29G=) c.636+11610G= (n.636+11610G=) | |
| 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) | |
| 15 | g.48526131T>C | CA392349457 | FBN1 | c.987A>G (p.Ile329Met) c.636+11580A>G (n.636+11580A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526131T>G | CA490028561 | FBN1 | c.987A>C (p.Ile329=) c.636+11580A>C (n.636+11580A>C) | |
| 15 | g.48526131T= | CA2175542919 | FBN1 | c.987A= (p.Ile329=) c.636+11580A= (n.636+11580A=) | |
| 15 | g.48526132A= | CA2175542923 | FBN1 | c.986T= (p.Ile329=) c.636+11579T= (n.636+11579T=) | |
| 15 | g.48526132A>C | CA392349460 | FBN1 | c.986T>G (p.Ile329Arg) c.636+11579T>G (n.636+11579T>G) | |
| 15 | g.48526132A>G | CA017862 | FBN1 | c.986T>C (p.Ile329Thr) c.636+11579T>C (n.636+11579T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526132A>T | CA392349462 | FBN1 | c.986T>A (p.Ile329Lys) c.636+11579T>A (n.636+11579T>A) | |
| 15 | g.48526132dup | CA2695220345 | FBN1 | c.986dup (p.Asp330ArgfsTer18) c.636+11579dup (n.636+11579dup) | |
| 15 | g.48526133T>A | CA392349466 | FBN1 | c.985A>T (p.Ile329Leu) c.636+11578A>T (n.636+11578A>T) | |
| 15 | g.48526133T>C | CA269566885 | FBN1 | c.985A>G (p.Ile329Val) c.636+11578A>G (n.636+11578A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526133T>G | CA392349472 | FBN1 | c.985A>C (p.Ile329Leu) c.636+11578A>C (n.636+11578A>C) | |
| 15 | g.48526133T= | CA2175542928 | FBN1 | c.985A= (p.Ile329=) c.636+11578A= (n.636+11578A=) | |
| 15 | g.48526134G>A | CA490028562 | FBN1 | c.984C>T (p.Cys328=) c.636+11577C>T (n.636+11577C>T) | |
| 15 | g.48526134G>C | CA392349473 | FBN1 | c.984C>G (p.Cys328Trp) c.636+11577C>G (n.636+11577C>G) | |
| 15 | g.48526134G>T | CA392349474 | FBN1 | c.984C>A (p.Cys328Ter) c.636+11577C>A (n.636+11577C>A) | ClinVar dbSNP |
| 15 | g.48526134_48526144delinsGCATCTGGTAC | CA2175542932 | FBN1 | c.974_984delinsGTACCAGATGC (p.Gly325=) c.636+11567_636+11577delinsGTACCAGATGC (n.636+11567_636+11577delinsGTACCAGATGC) | |
| 15 | g.48526135C>A | CA392349475 | FBN1 | c.983G>T (p.Cys328Phe) c.636+11576G>T (n.636+11576G>T) | |
| 15 | g.48526135C>G | CA392349476 | FBN1 | c.983G>C (p.Cys328Ser) c.636+11576G>C (n.636+11576G>C) | |
| 15 | g.48526135C>T | CA392349478 | FBN1 | c.983G>A (p.Cys328Tyr) c.636+11576G>A (n.636+11576G>A) | |
| 15 | g.48526137_48526138insACAT | CA2695220348 | FBN1 | c.983_984insTATG (p.Ile329MetfsTer20) c.636+11576_636+11577insTATG (n.636+11576_636+11577insTATG) | |
| 15 | g.48526142_48526151del | CA913191217 | FBN1 | c.974_983del (p.Gly325AlafsTer2) c.636+11567_636+11576del (n.636+11567_636+11576del) | ClinVar dbSNP |
| 15 | g.48526136A>C | CA392349482 | FBN1 | c.982T>G (p.Cys328Gly) c.636+11575T>G (n.636+11575T>G) | |
| 15 | g.48526136A>G | CA392349499 | FBN1 | c.982T>C (p.Cys328Arg) c.636+11575T>C (n.636+11575T>C) | |
| 15 | g.48526136A>T | CA392349501 | FBN1 | c.982T>A (p.Cys328Ser) c.636+11575T>A (n.636+11575T>A) | |
| 15 | g.48526137T>A | CA060469 | FBN1 | c.981A>T (p.Arg327Ser) c.636+11574A>T (n.636+11574A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526137T>C | CA490028563 | FBN1 | c.981A>G (p.Arg327=) c.636+11574A>G (n.636+11574A>G) | |
| 15 | g.48526137T>G | CA392349504 | FBN1 | c.981A>C (p.Arg327Ser) c.636+11574A>C (n.636+11574A>C) | |
| 15 | g.48526137T= | CA2175542936 | FBN1 | c.981A= (p.Arg327=) c.636+11574A= (n.636+11574A=) | |
| 15 | g.48526138C>A | CA392349514 | FBN1 | c.980G>T (p.Arg327Ile) c.636+11573G>T (n.636+11573G>T) | |
| 15 | g.48526138C= | CA2175542940 | FBN1 | c.980G= (p.Arg327=) c.636+11573G= (n.636+11573G=) | |
| 15 | g.48526138C>G | CA060463 | FBN1 | c.980G>C (p.Arg327Thr) c.636+11573G>C (n.636+11573G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526138C>T | CA392349517 | FBN1 | c.980G>A (p.Arg327Lys) c.636+11573G>A (n.636+11573G>A) | dbSNP gnomAD v2 |
| 15 | g.48526139T>A | CA392349530 | FBN1 | c.979A>T (p.Arg327Ter) c.636+11572A>T (n.636+11572A>T) | |
| 15 | g.48526139T>C | CA392349534 | FBN1 | c.979A>G (p.Arg327Gly) c.636+11572A>G (n.636+11572A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48526139T>G | CA490028564 | FBN1 | c.979A>C (p.Arg327=) c.636+11572A>C (n.636+11572A>C) | |
| 15 | g.48526139T= | CA2175542944 | FBN1 | c.979A= (p.Arg327=) c.636+11572A= (n.636+11572A=) | |
| 15 | g.48526139_48526140delinsTG | CA2175542942 | FBN1 | c.978_979delinsCA (p.Thr326=) c.636+11571_636+11572delinsCA (n.636+11571_636+11572delinsCA) | |
| 15 | g.48526140G>A | CA490028565 | FBN1 | c.978C>T (p.Thr326=) c.636+11571C>T (n.636+11571C>T) | ClinVar dbSNP |
| 15 | g.48526140G>C | CA490028566 | FBN1 | c.978C>G (p.Thr326=) c.636+11571C>G (n.636+11571C>G) | |
| 15 | g.48526140G= | CA2175542951 | FBN1 | c.978C= (p.Thr326=) c.636+11571C= (n.636+11571C=) | |
| 15 | g.48526140G>T | CA490028567 | FBN1 | c.978C>A (p.Thr326=) c.636+11571C>A (n.636+11571C>A) | gnomAD v4 |
| 15 | g.48526141del | CA16614454 | FBN1 | c.978del (p.Arg327AspfsTer3) c.636+11571del (n.636+11571del) | ClinVar dbSNP |
| 15 | g.48526141G>A | CA392349539 | FBN1 | c.977C>T (p.Thr326Ile) c.636+11570C>T (n.636+11570C>T) | |
| 15 | g.48526141G>C | CA392349543 | FBN1 | c.977C>G (p.Thr326Ser) c.636+11570C>G (n.636+11570C>G) | |
| 15 | g.48526141G>T | CA392349547 | FBN1 | c.977C>A (p.Thr326Asn) c.636+11570C>A (n.636+11570C>A) | |
| 15 | g.48526142del | CA2695220349 | FBN1 | c.976del (p.Thr326ProfsTer4) c.636+11569del (n.636+11569del) | |
| 15 | g.48526142T>A | CA392349555 | FBN1 | c.976A>T (p.Thr326Ser) c.636+11569A>T (n.636+11569A>T) | gnomAD v4 |
| 15 | g.48526142T>C | CA060458 | FBN1 | c.976A>G (p.Thr326Ala) c.636+11569A>G (n.636+11569A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526142T>G | CA392349561 | FBN1 | c.976A>C (p.Thr326Pro) c.636+11569A>C (n.636+11569A>C) | |
| 15 | g.48526142T= | CA2175542960 | FBN1 | c.976A= (p.Thr326=) c.636+11569A= (n.636+11569A=) | |
| 15 | g.48526143A= | CA2175542964 | FBN1 | c.975T= (p.Gly325=) c.636+11568T= (n.636+11568T=) | |
| 15 | g.48526143A>C | CA490028568 | FBN1 | c.975T>G (p.Gly325=) c.636+11568T>G (n.636+11568T>G) | |
| 15 | g.48526143A>G | CA490028569 | FBN1 | c.975T>C (p.Gly325=) c.636+11568T>C (n.636+11568T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48526143A>T | CA490028570 | FBN1 | c.975T>A (p.Gly325=) c.636+11568T>A (n.636+11568T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48526144C>A | CA392349581 | FBN1 | c.974G>T (p.Gly325Val) c.636+11567G>T (n.636+11567G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48526144C= | CA2175542967 | FBN1 | c.974G= (p.Gly325=) c.636+11567G= (n.636+11567G=) | |
| 15 | g.48526144C>G | CA060453 | FBN1 | c.974G>C (p.Gly325Ala) c.636+11567G>C (n.636+11567G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526144C>T | CA392349589 | FBN1 | c.974G>A (p.Gly325Asp) c.636+11567G>A (n.636+11567G>A) | |
| 15 | g.48526145C>A | CA392349600 | FBN1 | c.973G>T (p.Gly325Cys) c.636+11566G>T (n.636+11566G>T) | |
| 15 | g.48526145C>G | CA392349601 | FBN1 | c.973G>C (p.Gly325Arg) c.636+11566G>C (n.636+11566G>C) | |
| 15 | g.48526145C>T | CA392349615 | FBN1 | c.973G>A (p.Gly325Ser) c.636+11566G>A (n.636+11566G>A) | |
| 15 | g.48526146A= | CA2175542970 | FBN1 | c.972T= (p.Asp324=) c.636+11565T= (n.636+11565T=) | |
| 15 | g.48526146A>C | CA392349623 | FBN1 | c.972T>G (p.Asp324Glu) c.636+11565T>G (n.636+11565T>G) | |
| 15 | g.48526146A>G | CA060445 | FBN1 | c.972T>C (p.Asp324=) c.636+11565T>C (n.636+11565T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526146A>T | CA392349627 | FBN1 | c.972T>A (p.Asp324Glu) c.636+11565T>A (n.636+11565T>A) | |
| 15 | g.48526147T>A | CA060436 | FBN1 | c.971A>T (p.Asp324Val) c.636+11564A>T (n.636+11564A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526147T>C | CA060434 | FBN1 | c.971A>G (p.Asp324Gly) c.636+11564A>G (n.636+11564A>G) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.48526147T>G | CA392349638 | FBN1 | c.971A>C (p.Asp324Ala) c.636+11564A>C (n.636+11564A>C) | |
| 15 | g.48526147T= | CA2175542973 | FBN1 | c.971A= (p.Asp324=) c.636+11564A= (n.636+11564A=) | |
| 15 | g.48526148C>A | CA392349641 | FBN1 | c.970G>T (p.Asp324Tyr) c.636+11563G>T (n.636+11563G>T) | |
| 15 | g.48526148C= | CA2175542975 | FBN1 | c.970G= (p.Asp324=) c.636+11563G= (n.636+11563G=) | |
| 15 | g.48526148C>G | CA392349646 | FBN1 | c.970G>C (p.Asp324His) c.636+11563G>C (n.636+11563G>C) | gnomAD v4 |
| 15 | g.48526148C>T | CA060428 | FBN1 | c.970G>A (p.Asp324Asn) c.636+11563G>A (n.636+11563G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526149T>A | CA490028571 | FBN1 | c.969A>T (p.Pro323=) c.636+11562A>T (n.636+11562A>T) | |
| 15 | g.48526149T>C | CA060425 | FBN1 | c.969A>G (p.Pro323=) c.636+11562A>G (n.636+11562A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526149T>G | CA490028572 | FBN1 | c.969A>C (p.Pro323=) c.636+11562A>C (n.636+11562A>C) | |
| 15 | g.48526149T= | CA2175542979 | FBN1 | c.969A= (p.Pro323=) c.636+11562A= (n.636+11562A=) | |
| 15 | g.48526149delinsGG | CA2580089609 | FBN1 | c.969delinsCC (p.Asp324ArgfsTer24) c.636+11562delinsCC (n.636+11562delinsCC) | ClinVar |
| 15 | g.48526150G>A | CA392349653 | FBN1 | c.968C>T (p.Pro323Leu) c.636+11561C>T (n.636+11561C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526150G>C | CA392349656 | FBN1 | c.968C>G (p.Pro323Arg) c.636+11561C>G (n.636+11561C>G) | |
| 15 | g.48526150G= | CA2175542986 | FBN1 | c.968C= (p.Pro323=) c.636+11561C= (n.636+11561C=) | |
| 15 | g.48526150G>T | CA392349659 | FBN1 | c.968C>A (p.Pro323Gln) c.636+11561C>A (n.636+11561C>A) | |
| 15 | g.48526151G>A | CA392349662 | FBN1 | c.967C>T (p.Pro323Ser) c.636+11560C>T (n.636+11560C>T) | |
| 15 | g.48526151G>C | CA392349665 | FBN1 | c.967C>G (p.Pro323Ala) c.636+11560C>G (n.636+11560C>G) | |
| 15 | g.48526151G>T | CA392349661 | FBN1 | c.967C>A (p.Pro323Thr) c.636+11560C>A (n.636+11560C>A) | |
| 15 | g.48526152A>C | CA490028575 | FBN1 | c.966T>G (p.Ser322=) c.636+11559T>G (n.636+11559T>G) | |
| 15 | g.48526152A>G | CA490028573 | FBN1 | c.966T>C (p.Ser322=) c.636+11559T>C (n.636+11559T>C) | |
| 15 | g.48526152A>T | CA490028574 | FBN1 | c.966T>A (p.Ser322=) c.636+11559T>A (n.636+11559T>A) | |
| 15 | g.48526153G>A | CA7547942 | FBN1 | c.965C>T (p.Ser322Phe) c.636+11558C>T (n.636+11558C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526153G>C | CA392349676 | FBN1 | c.965C>G (p.Ser322Cys) c.636+11558C>G (n.636+11558C>G) | |
| 15 | g.48526153G= | CA2175542989 | FBN1 | c.965C= (p.Ser322=) c.636+11558C= (n.636+11558C=) | |
| 15 | g.48526153G>T | CA392349698 | FBN1 | c.965C>A (p.Ser322Tyr) c.636+11558C>A (n.636+11558C>A) | COSMIC |
| 15 | g.48526153_48526154delinsGA | CA2175542990 | FBN1 | c.964_965delinsTC (p.Ser322=) c.636+11557_636+11558delinsTC (n.636+11557_636+11558delinsTC) | |
| 15 | g.48526154del | CA7547943 | FBN1 | c.964del (p.Ser322LeufsTer8) c.636+11557del (n.636+11557del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526154A>C | CA392349708 | FBN1 | c.964T>G (p.Ser322Ala) c.636+11557T>G (n.636+11557T>G) | |
| 15 | g.48526154A>G | CA392349712 | FBN1 | c.964T>C (p.Ser322Pro) c.636+11557T>C (n.636+11557T>C) | |
| 15 | g.48526154A>T | CA392349714 | FBN1 | c.964T>A (p.Ser322Thr) c.636+11557T>A (n.636+11557T>A) | |
| 15 | g.48526155G>A | CA060406 | FBN1 | c.963C>T (p.Thr321=) c.636+11556C>T (n.636+11556C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526155G>C | CA490028576 | FBN1 | c.963C>G (p.Thr321=) c.636+11556C>G (n.636+11556C>G) | ClinVar dbSNP |
| 15 | g.48526155G= | CA2175542995 | FBN1 | c.963C= (p.Thr321=) c.636+11556C= (n.636+11556C=) | |
| 15 | g.48526155G>T | CA490028577 | FBN1 | c.963C>A (p.Thr321=) c.636+11556C>A (n.636+11556C>A) | |
| 15 | g.48526156del | CA2580089611 | FBN1 | c.963del (p.Ser322LeufsTer8) c.636+11556del (n.636+11556del) | ClinVar |
| 15 | g.48526155_48526157delinsGGT | CA2175542999 | FBN1 | c.961_963delinsACC (p.Thr321=) c.636+11554_636+11556delinsACC (n.636+11554_636+11556delinsACC) | |
| 15 | g.48526156G>A | CA392349729 | FBN1 | c.962C>T (p.Thr321Ile) c.636+11555C>T (n.636+11555C>T) | ClinVar dbSNP |
| 15 | g.48526156G>C | CA392349731 | FBN1 | c.962C>G (p.Thr321Ser) c.636+11555C>G (n.636+11555C>G) | |
| 15 | g.48526156G= | CA2175543004 | FBN1 | c.962C= (p.Thr321=) c.636+11555C= (n.636+11555C=) | |
| 15 | g.48526156G>T | CA392349736 | FBN1 | c.962C>A (p.Thr321Asn) c.636+11555C>A (n.636+11555C>A) | |
| 15 | g.48526158_48526159del | CA658824881 | FBN1 | c.961_962del (p.Thr321LeufsTer26) c.636+11554_636+11555del (n.636+11554_636+11555del) | ClinVar dbSNP |
| 15 | g.48526157T>A | CA392349742 | FBN1 | c.961A>T (p.Thr321Ser) c.636+11554A>T (n.636+11554A>T) | |
| 15 | g.48526157T>C | CA392349746 | FBN1 | c.961A>G (p.Thr321Ala) c.636+11554A>G (n.636+11554A>G) | |
| 15 | g.48526157T>G | CA392349739 | FBN1 | c.961A>C (p.Thr321Pro) c.636+11554A>C (n.636+11554A>C) | |
| 15 | g.48526157dup | CA2695220351 | FBN1 | c.961dup (p.Thr321AsnfsTer27) c.636+11554dup (n.636+11554dup) | |
| 15 | g.48526158G>A | CA490028578 | FBN1 | c.960C>T (p.Tyr320=) c.636+11553C>T (n.636+11553C>T) | gnomAD v4 |
| 15 | g.48526158G>C | CA392349749 | FBN1 | c.960C>G (p.Tyr320Ter) c.636+11553C>G (n.636+11553C>G) | |
| 15 | g.48526158G= | CA2175543008 | FBN1 | c.960C= (p.Tyr320=) c.636+11553C= (n.636+11553C=) | |
| 15 | g.48526158G>T | CA392349750 | FBN1 | c.960C>A (p.Tyr320Ter) c.636+11553C>A (n.636+11553C>A) | ClinVar dbSNP |
| 15 | g.48526159T>A | CA392349753 | FBN1 | c.959A>T (p.Tyr320Phe) c.636+11552A>T (n.636+11552A>T) | |
| 15 | g.48526159T>C | CA392349759 | FBN1 | c.959A>G (p.Tyr320Cys) c.636+11552A>G (n.636+11552A>G) | |
| 15 | g.48526159T>G | CA392349765 | FBN1 | c.959A>C (p.Tyr320Ser) c.636+11552A>C (n.636+11552A>C) | |
| 15 | g.48526159T= | CA2175543017 | FBN1 | c.959A= (p.Tyr320=) c.636+11552A= (n.636+11552A=) | |
| 15 | g.48526159dup | CA658824882 | FBN1 | c.959dup (p.Tyr320Ter) c.636+11552dup (n.636+11552dup) | ClinVar dbSNP |
| 15 | g.48526160A>C | CA392349767 | FBN1 | c.958T>G (p.Tyr320Asp) c.636+11551T>G (n.636+11551T>G) | |
| 15 | g.48526160A>G | CA392349771 | FBN1 | c.958T>C (p.Tyr320His) c.636+11551T>C (n.636+11551T>C) | |
| 15 | g.48526160A>T | CA392349769 | FBN1 | c.958T>A (p.Tyr320Asn) c.636+11551T>A (n.636+11551T>A) | |
| 15 | g.48526164dup | CA017854 | FBN1 | c.958dup (p.Tyr320LeufsTer28) c.636+11551dup (n.636+11551dup) | ClinVar dbSNP |
| 15 | g.48526161A>C | CA392349779 | FBN1 | c.957T>G (p.Phe319Leu) c.636+11550T>G (n.636+11550T>G) | |
| 15 | g.48526161A>G | CA490028579 | FBN1 | c.957T>C (p.Phe319=) c.636+11550T>C (n.636+11550T>C) | |
| 15 | g.48526161A>T | CA392349786 | FBN1 | c.957T>A (p.Phe319Leu) c.636+11550T>A (n.636+11550T>A) | |
| 15 | g.48526162A>C | CA392349790 | FBN1 | c.956T>G (p.Phe319Cys) c.636+11549T>G (n.636+11549T>G) | |
| 15 | g.48526162A>G | CA392349794 | FBN1 | c.956T>C (p.Phe319Ser) c.636+11549T>C (n.636+11549T>C) | |
| 15 | g.48526162A>T | CA392349797 | FBN1 | c.956T>A (p.Phe319Tyr) c.636+11549T>A (n.636+11549T>A) | |
| 15 | g.48526163A>C | CA392349802 | FBN1 | c.955T>G (p.Phe319Val) c.636+11548T>G (n.636+11548T>G) | |
| 15 | g.48526163A>G | CA392349799 | FBN1 | c.955T>C (p.Phe319Leu) c.636+11548T>C (n.636+11548T>C) | |
| 15 | g.48526163A>T | CA392349798 | FBN1 | c.955T>A (p.Phe319Ile) c.636+11548T>A (n.636+11548T>A) | |
| 15 | g.48526164A= | CA2175543023 | FBN1 | c.954T= (p.Gly318=) c.636+11547T= (n.636+11547T=) | |
| 15 | g.48526164A>C | CA490028580 | FBN1 | c.954T>G (p.Gly318=) c.636+11547T>G (n.636+11547T>G) | |
| 15 | g.48526164A>G | CA490028581 | FBN1 | c.954T>C (p.Gly318=) c.636+11547T>C (n.636+11547T>C) | |
| 15 | g.48526164A>T | CA060402 | FBN1 | c.954T>A (p.Gly318=) c.636+11547T>A (n.636+11547T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526165C>A | CA060398 | FBN1 | c.953G>T (p.Gly318Val) c.636+11546G>T (n.636+11546G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526165C= | CA2175543026 | FBN1 | c.953G= (p.Gly318=) c.636+11546G= (n.636+11546G=) | |
| 15 | g.48526165C>G | CA392349819 | FBN1 | c.953G>C (p.Gly318Ala) c.636+11546G>C (n.636+11546G>C) | |
| 15 | g.48526165C>T | CA392349816 | FBN1 | c.953G>A (p.Gly318Asp) c.636+11546G>A (n.636+11546G>A) | gnomAD v4 |
| 15 | g.48526166del | CA2580089616 | FBN1 | c.953del (p.Gly318ValfsTer12) c.636+11546del (n.636+11546del) | ClinVar |