| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48520821_48520822dup | CA2175537827 | FBN1 | c.989-4_989-3dup (n.989-4_989-3dup) c.636+16890_636+16891dup (n.636+16890_636+16891dup) | dbSNP |
| 15 | g.48520822G>A | CA2628336661 | FBN1 | c.989-5C>T (n.989-5C>T) c.636+16889C>T (n.636+16889C>T) | gnomAD v4 |
| 15 | g.48520822G= | CA2175537828 | FBN1 | c.989-5C= (n.989-5C=) c.636+16889C= (n.636+16889C=) | |
| 15 | g.48520822G>T | CA913187724 | FBN1 | c.989-5C>A (n.989-5C>A) c.636+16889C>A (n.636+16889C>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48520823G>C | CA2628336662 | FBN1 | c.989-6C>G (n.989-6C>G) c.636+16888C>G (n.636+16888C>G) | gnomAD v4 |
| 15 | g.48520823G= | CA2175537832 | FBN1 | c.989-6C= (n.989-6C=) c.636+16888C= (n.636+16888C=) | |
| 15 | g.48520823G>T | CA269562583 | FBN1 | c.989-6C>A (n.989-6C>A) c.636+16888C>A (n.636+16888C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520825C= | CA2175537838 | FBN1 | c.989-8G= (n.989-8G=) c.636+16886G= (n.636+16886G=) | |
| 15 | g.48520825C>T | CA060570 | FBN1 | c.989-8G>A (n.989-8G>A) c.636+16886G>A (n.636+16886G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520825_48520827delinsCAA | CA2175537839 | FBN1 | c.989-10_989-8delinsTTG (n.989-10_989-8delinsTTG) c.636+16884_636+16886delinsTTG (n.636+16884_636+16886delinsTTG) | |
| 15 | g.48520825_48520827delinsTAT | CA913187727 | FBN1 | c.989-10_989-8delinsATA (n.989-10_989-8delinsATA) c.636+16884_636+16886delinsATA (n.636+16884_636+16886delinsATA) | ClinVar dbSNP |
| 15 | g.48520827A= | CA2175537844 | FBN1 | c.989-10T= (n.989-10T=) c.636+16884T= (n.636+16884T=) | |
| 15 | g.48520827A>C | CA2628336663 | FBN1 | c.989-10T>G (n.989-10T>G) c.636+16884T>G (n.636+16884T>G) | gnomAD v4 |
| 15 | g.48520827A>G | CA269562592 | FBN1 | c.989-10T>C (n.989-10T>C) c.636+16884T>C (n.636+16884T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520827A>T | CA060523 | FBN1 | c.989-10T>A (n.989-10T>A) c.636+16884T>A (n.636+16884T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520831_48520833delinsAAC | CA2175537854 | FBN1 | c.989-16_989-14delinsGTT (n.989-16_989-14delinsGTT) c.636+16878_636+16880delinsGTT (n.636+16878_636+16880delinsGTT) | |
| 15 | g.48520836_48520837insCACACA | CA2741427209 | FBN1 | c.989-15_989-14insGTGTGT (n.989-15_989-14insGTGTGT) c.636+16879_636+16880insGTGTGT (n.636+16879_636+16880insGTGTGT) | |
| 15 | g.48520835_48520836del | CA618009378 | FBN1 | c.989-16_989-15del (n.989-16_989-15del) c.636+16878_636+16879del (n.636+16878_636+16879del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520833C= | CA2175537859 | FBN1 | c.989-16G= (n.989-16G=) c.636+16878G= (n.636+16878G=) | |
| 15 | g.48520833C>T | CA618009379 | FBN1 | c.989-16G>A (n.989-16G>A) c.636+16878G>A (n.636+16878G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520835C= | CA2175537863 | FBN1 | c.989-18G= (n.989-18G=) c.636+16876G= (n.636+16876G=) | |
| 15 | g.48520835C>T | CA060526 | FBN1 | c.989-18G>A (n.989-18G>A) c.636+16876G>A (n.636+16876G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520837T>A | CA2628336664 | FBN1 | c.989-20A>T (n.989-20A>T) c.636+16874A>T (n.636+16874A>T) | gnomAD v4 |
| 15 | g.48520837T>C | CA7547940 | FBN1 | c.989-20A>G (n.989-20A>G) c.636+16874A>G (n.636+16874A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48520837T= | CA2175537869 | FBN1 | c.989-20A= (n.989-20A=) c.636+16874A= (n.636+16874A=) | |
| 15 | g.48520837_48520839delinsTAC | CA2175537867 | FBN1 | c.989-22_989-20delinsGTA (n.989-22_989-20delinsGTA) c.636+16872_636+16874delinsGTA (n.636+16872_636+16874delinsGTA) | |
| 15 | g.48520849_48520850dup | CA7547941 | FBN1 | c.989-22_989-21dup (n.989-22_989-21dup) c.636+16872_636+16873dup (n.636+16872_636+16873dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520847_48520850dup | CA2628336665 | FBN1 | c.989-24_989-21dup (n.989-24_989-21dup) c.636+16870_636+16873dup (n.636+16870_636+16873dup) | gnomAD v4 |
| 15 | g.48520845_48520850dup | CA618009380 | FBN1 | c.989-26_989-21dup (n.989-26_989-21dup) c.636+16868_636+16873dup (n.636+16868_636+16873dup) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520849_48520850del | CA7547939 | FBN1 | c.989-22_989-21del (n.989-22_989-21del) c.636+16872_636+16873del (n.636+16872_636+16873del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48520847_48520850del | CA2628336666 | FBN1 | c.989-24_989-21del (n.989-24_989-21del) c.636+16870_636+16873del (n.636+16870_636+16873del) | gnomAD v4 |
| 15 | g.48520839C>A | CA2628336667 | FBN1 | c.989-22G>T (n.989-22G>T) c.636+16872G>T (n.636+16872G>T) | gnomAD v4 |
| 15 | g.48520839C= | CA2175537879 | FBN1 | c.989-22G= (n.989-22G=) c.636+16872G= (n.636+16872G=) | |
| 15 | g.48520839C>G | CA618009381 | FBN1 | c.989-22G>C (n.989-22G>C) c.636+16872G>C (n.636+16872G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520839C>T | CA2575717645 | FBN1 | c.989-22G>A (n.989-22G>A) c.636+16872G>A (n.636+16872G>A) | gnomAD v4 |
| 15 | g.48520841C= | CA2175537881 | FBN1 | c.989-24G= (n.989-24G=) c.636+16870G= (n.636+16870G=) | |
| 15 | g.48520841C>T | CA2175537882 | FBN1 | c.989-24G>A (n.989-24G>A) c.636+16870G>A (n.636+16870G>A) | dbSNP gnomAD v4 |
| 15 | g.48520842A= | CA2175537884 | FBN1 | c.989-25T= (n.989-25T=) c.636+16869T= (n.636+16869T=) | |
| 15 | g.48520842A>G | CA618009382 | FBN1 | c.989-25T>C (n.989-25T>C) c.636+16869T>C (n.636+16869T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520843C>A | CA618009383 | FBN1 | c.989-26G>T (n.989-26G>T) c.636+16868G>T (n.636+16868G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520843C= | CA2175537887 | FBN1 | c.989-26G= (n.989-26G=) c.636+16868G= (n.636+16868G=) | |
| 15 | g.48520843C>G | CA2804074053 | FBN1 | c.989-26G>C (n.989-26G>C) c.636+16868G>C (n.636+16868G>C) | |
| 15 | g.48520843C>T | CA713423447 | FBN1 | c.989-26G>A (n.989-26G>A) c.636+16868G>A (n.636+16868G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520845C>A | CA2628336668 | FBN1 | c.989-28G>T (n.989-28G>T) c.636+16866G>T (n.636+16866G>T) | gnomAD v4 |
| 15 | g.48520846del | CA2628336669 | FBN1 | c.989-29del (n.989-29del) c.636+16865del (n.636+16865del) | gnomAD v4 |
| 15 | g.48520846A>G | CA2804074054 | FBN1 | c.989-29T>C (n.989-29T>C) c.636+16865T>C (n.636+16865T>C) | |
| 15 | g.48520847C= | CA2175537892 | FBN1 | c.989-30G= (n.989-30G=) c.636+16864G= (n.636+16864G=) | |
| 15 | g.48520847C>T | CA060541 | FBN1 | c.989-30G>A (n.989-30G>A) c.636+16864G>A (n.636+16864G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520850A= | CA2175537898 | FBN1 | c.989-33T= (n.989-33T=) c.636+16861T= (n.636+16861T=) | |
| 15 | g.48520850A>G | CA060545 | FBN1 | c.989-33T>C (n.989-33T>C) c.636+16861T>C (n.636+16861T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520852C>A | CA2175537904 | FBN1 | c.989-35G>T (n.989-35G>T) c.636+16859G>T (n.636+16859G>T) | dbSNP |
| 15 | g.48520852C= | CA2175537901 | FBN1 | c.989-35G= (n.989-35G=) c.636+16859G= (n.636+16859G=) | |
| 15 | g.48520852C>G | CA2628336670 | FBN1 | c.989-35G>C (n.989-35G>C) c.636+16859G>C (n.636+16859G>C) | gnomAD v4 |
| 15 | g.48520852C>T | CA269562625 | FBN1 | c.989-35G>A (n.989-35G>A) c.636+16859G>A (n.636+16859G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520853G>A | CA060549 | FBN1 | c.989-36C>T (n.989-36C>T) c.636+16858C>T (n.636+16858C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520853G= | CA2175537906 | FBN1 | c.989-36C= (n.989-36C=) c.636+16858C= (n.636+16858C=) | |
| 15 | g.48520855T>G | CA2575717646 | FBN1 | c.989-38A>C (n.989-38A>C) c.636+16856A>C (n.636+16856A>C) | gnomAD v4 |
| 15 | g.48520857A>C | CA2628336671 | FBN1 | c.989-40T>G (n.989-40T>G) c.636+16854T>G (n.636+16854T>G) | gnomAD v4 |
| 15 | g.48520857A>T | CA2628336672 | FBN1 | c.989-40T>A (n.989-40T>A) c.636+16854T>A (n.636+16854T>A) | gnomAD v4 |
| 15 | g.48520857_48520858insCTAACAAATGAGGAGAGAGGCCTTCTGCACTCATAGATTTATTATGCTTGG | CA2741427210 | FBN1 | c.989-41_989-40insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG (n.989-41_989-40insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG) c.636+16853_636+16854insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG (n.636+16853_636+16854insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG) | |
| 15 | g.48520858G>A | CA060553 | FBN1 | c.989-41C>T (n.989-41C>T) c.636+16853C>T (n.636+16853C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520858G= | CA2175537908 | FBN1 | c.989-41C= (n.989-41C=) c.636+16853C= (n.636+16853C=) | |
| 15 | g.48520859A>G | CA2575717647 | FBN1 | c.989-42T>C (n.989-42T>C) c.636+16852T>C (n.636+16852T>C) | |
| 15 | g.48520862_48520864del | CA2628336673 | FBN1 | c.989-44_989-42del (n.989-44_989-42del) c.636+16850_636+16852del (n.636+16850_636+16852del) | gnomAD v4 |
| 15 | g.48520862A= | CA2175537912 | FBN1 | c.989-45T= (n.989-45T=) c.636+16849T= (n.636+16849T=) | |
| 15 | g.48520862A>C | CA618009384 | FBN1 | c.989-45T>G (n.989-45T>G) c.636+16849T>G (n.636+16849T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520862A>G | CA2628336674 | FBN1 | c.989-45T>C (n.989-45T>C) c.636+16849T>C (n.636+16849T>C) | gnomAD v4 |
| 15 | g.48520863T>C | CA2175537915 | FBN1 | c.989-46A>G (n.989-46A>G) c.636+16848A>G (n.636+16848A>G) | dbSNP |
| 15 | g.48520863T= | CA2175537914 | FBN1 | c.989-46A= (n.989-46A=) c.636+16848A= (n.636+16848A=) | |
| 15 | g.48520865C= | CA2175537918 | FBN1 | c.989-48G= (n.989-48G=) c.636+16846G= (n.636+16846G=) | |
| 15 | g.48520865C>T | CA060558 | FBN1 | c.989-48G>A (n.989-48G>A) c.636+16846G>A (n.636+16846G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520867T>G | CA060562 | FBN1 | c.989-50A>C (n.989-50A>C) c.636+16844A>C (n.636+16844A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520867T= | CA2175537920 | FBN1 | c.989-50A= (n.989-50A=) c.636+16844A= (n.636+16844A=) | |
| 15 | g.48520868G>A | CA2628336675 | FBN1 | c.989-51C>T (n.989-51C>T) c.636+16843C>T (n.636+16843C>T) | gnomAD v4 |
| 15 | g.48520869T>C | CA060567 | FBN1 | c.989-52A>G (n.989-52A>G) c.636+16842A>G (n.636+16842A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520869T= | CA2175537922 | FBN1 | c.989-52A= (n.989-52A=) c.636+16842A= (n.636+16842A=) | |
| 15 | g.48520870A>T | CA2628336676 | FBN1 | c.989-53T>A (n.989-53T>A) c.636+16841T>A (n.636+16841T>A) | gnomAD v4 |
| 15 | g.48520873_48520874insCCACACCCAA | CA2804074055 | FBN1 | c.989-56_989-55insTGGGTGTGGT (n.989-56_989-55insTGGGTGTGGT) c.636+16838_636+16839insTGGGTGTGGT (n.636+16838_636+16839insTGGGTGTGGT) | |
| 15 | g.48520875C>A | CA2628336677 | FBN1 | c.989-58G>T (n.989-58G>T) c.636+16836G>T (n.636+16836G>T) | gnomAD v4 |
| 15 | g.48520875_48520876delinsCA | CA2175537924 | FBN1 | c.989-59_989-58delinsTG (n.989-59_989-58delinsTG) c.636+16835_636+16836delinsTG (n.636+16835_636+16836delinsTG) | |
| 15 | g.48520876del | CA969568230 | FBN1 | c.989-59del (n.989-59del) c.636+16835del (n.636+16835del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520877C>A | CA969568266 | FBN1 | c.989-60G>T (n.989-60G>T) c.636+16834G>T (n.636+16834G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520877C= | CA2175537927 | FBN1 | c.989-60G= (n.989-60G=) c.636+16834G= (n.636+16834G=) | |
| 15 | g.48520877C>T | CA2628336678 | FBN1 | c.989-60G>A (n.989-60G>A) c.636+16834G>A (n.636+16834G>A) | gnomAD v4 |
| 15 | g.48520878T>A | CA2804074056 | FBN1 | c.989-61A>T (n.989-61A>T) c.636+16833A>T (n.636+16833A>T) | |
| 15 | g.48520878T>C | CA2628336679 | FBN1 | c.989-61A>G (n.989-61A>G) c.636+16833A>G (n.636+16833A>G) | gnomAD v4 |
| 15 | g.48520878T>G | CA2628336680 | FBN1 | c.989-61A>C (n.989-61A>C) c.636+16833A>C (n.636+16833A>C) | gnomAD v4 |
| 15 | g.48520879C= | CA2175537931 | FBN1 | c.989-62G= (n.989-62G=) c.636+16832G= (n.636+16832G=) | |
| 15 | g.48520879C>G | CA269562653 | FBN1 | c.989-62G>C (n.989-62G>C) c.636+16832G>C (n.636+16832G>C) | dbSNP |
| 15 | g.48520880C= | CA2175537934 | FBN1 | c.989-63G= (n.989-63G=) c.636+16831G= (n.636+16831G=) | |
| 15 | g.48520880C>T | CA269562660 | FBN1 | c.989-63G>A (n.989-63G>A) c.636+16831G>A (n.636+16831G>A) | dbSNP gnomAD v4 |
| 15 | g.48520881C>A | CA2513755776 | FBN1 | c.989-64G>T (n.989-64G>T) c.636+16830G>T (n.636+16830G>T) | |
| 15 | g.48520881C= | CA2175537936 | FBN1 | c.989-64G= (n.989-64G=) c.636+16830G= (n.636+16830G=) | |
| 15 | g.48520881C>T | CA269562674 | FBN1 | c.989-64G>A (n.989-64G>A) c.636+16830G>A (n.636+16830G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520881_48520882insAACA | CA2804074058 | FBN1 | c.989-65_989-64insTGTT (n.989-65_989-64insTGTT) c.636+16829_636+16830insTGTT (n.636+16829_636+16830insTGTT) | |
| 15 | g.48520882C>A | CA2628336681 | FBN1 | c.989-65G>T (n.989-65G>T) c.636+16829G>T (n.636+16829G>T) | gnomAD v4 |
| 15 | g.48520882C>G | CA2628336682 | FBN1 | c.989-65G>C (n.989-65G>C) c.636+16829G>C (n.636+16829G>C) | gnomAD v4 |
| 15 | g.48520884G>A | CA269562718 | FBN1 | c.989-67C>T (n.989-67C>T) c.636+16827C>T (n.636+16827C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520884G>C | CA969568272 | FBN1 | c.989-67C>G (n.989-67C>G) c.636+16827C>G (n.636+16827C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520884G= | CA2175537938 | FBN1 | c.989-67C= (n.989-67C=) c.636+16827C= (n.636+16827C=) | |
| 15 | g.48520884G>T | CA2575717648 | FBN1 | c.989-67C>A (n.989-67C>A) c.636+16827C>A (n.636+16827C>A) | gnomAD v4 |
| 15 | g.48520885C>A | CA269562726 | FBN1 | c.989-68G>T (n.989-68G>T) c.636+16826G>T (n.636+16826G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520885C= | CA2175537941 | FBN1 | c.989-68G= (n.989-68G=) c.636+16826G= (n.636+16826G=) | |
| 15 | g.48520885C>T | CA2628336683 | FBN1 | c.989-68G>A (n.989-68G>A) c.636+16826G>A (n.636+16826G>A) | gnomAD v4 |
| 15 | g.48520886C>A | CA2526255976 | FBN1 | c.989-69G>T (n.989-69G>T) c.636+16825G>T (n.636+16825G>T) | |
| 15 | g.48520887_48520894dup | CA713423460 | FBN1 | c.989-76_989-69dup (n.989-76_989-69dup) c.636+16818_636+16825dup (n.636+16818_636+16825dup) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520887C>A | CA2628336684 | FBN1 | c.989-70G>T (n.989-70G>T) c.636+16824G>T (n.636+16824G>T) | gnomAD v4 |
| 15 | g.48520887C= | CA2175537947 | FBN1 | c.989-70G= (n.989-70G=) c.636+16824G= (n.636+16824G=) | |
| 15 | g.48520887C>G | CA269562730 | FBN1 | c.989-70G>C (n.989-70G>C) c.636+16824G>C (n.636+16824G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520887C>T | CA2175537945 | FBN1 | c.989-70G>A (n.989-70G>A) c.636+16824G>A (n.636+16824G>A) | dbSNP gnomAD v4 |
| 15 | g.48520888G>A | CA269562732 | FBN1 | c.989-71C>T (n.989-71C>T) c.636+16823C>T (n.636+16823C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520888G= | CA2175537948 | FBN1 | c.989-71C= (n.989-71C=) c.636+16823C= (n.636+16823C=) | |
| 15 | g.48520888G>T | CA2628336685 | FBN1 | c.989-71C>A (n.989-71C>A) c.636+16823C>A (n.636+16823C>A) | gnomAD v4 |
| 15 | g.48520890G>A | CA2628336686 | FBN1 | c.989-73C>T (n.989-73C>T) c.636+16821C>T (n.636+16821C>T) | gnomAD v4 |
| 15 | g.48520890G>T | CA2575717649 | FBN1 | c.989-73C>A (n.989-73C>A) c.636+16821C>A (n.636+16821C>A) | gnomAD v4 |
| 15 | g.48520891C>A | CA2628336688 | FBN1 | c.989-74G>T (n.989-74G>T) c.636+16820G>T (n.636+16820G>T) | gnomAD v4 |
| 15 | g.48520891C>T | CA2628336687 | FBN1 | c.989-74G>A (n.989-74G>A) c.636+16820G>A (n.636+16820G>A) | gnomAD v4 |
| 15 | g.48520892A= | CA2175537949 | FBN1 | c.989-75T= (n.989-75T=) c.636+16819T= (n.636+16819T=) | |
| 15 | g.48520892A>C | CA713423467 | FBN1 | c.989-75T>G (n.989-75T>G) c.636+16819T>G (n.636+16819T>G) | dbSNP gnomAD v4 |
| 15 | g.48520893G>T | CA2628336689 | FBN1 | c.989-76C>A (n.989-76C>A) c.636+16818C>A (n.636+16818C>A) | gnomAD v4 |
| 15 | g.48520894C= | CA2175537951 | FBN1 | c.989-77G= (n.989-77G=) c.636+16817G= (n.636+16817G=) | |
| 15 | g.48520894C>G | CA713423468 | FBN1 | c.989-77G>C (n.989-77G>C) c.636+16817G>C (n.636+16817G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520894C>T | CA2628336690 | FBN1 | c.989-77G>A (n.989-77G>A) c.636+16817G>A (n.636+16817G>A) | gnomAD v4 |
| 15 | g.48520895T>C | CA2628336691 | FBN1 | c.989-78A>G (n.989-78A>G) c.636+16816A>G (n.636+16816A>G) | gnomAD v4 |
| 15 | g.48520896C= | CA2175537953 | FBN1 | c.989-79G= (n.989-79G=) c.636+16815G= (n.636+16815G=) | |
| 15 | g.48520896C>T | CA713423470 | FBN1 | c.989-79G>A (n.989-79G>A) c.636+16815G>A (n.636+16815G>A) | dbSNP |
| 15 | g.48520897C>A | CA2628336692 | FBN1 | c.989-80G>T (n.989-80G>T) c.636+16814G>T (n.636+16814G>T) | gnomAD v4 |
| 15 | g.48520898A>C | CA2628336693 | FBN1 | c.989-81T>G (n.989-81T>G) c.636+16813T>G (n.636+16813T>G) | gnomAD v4 |
| 15 | g.48520899T>C | CA618009385 | FBN1 | c.989-82A>G (n.989-82A>G) c.636+16812A>G (n.636+16812A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520899T= | CA2175537956 | FBN1 | c.989-82A= (n.989-82A=) c.636+16812A= (n.636+16812A=) | |
| 15 | g.48520900A>G | CA2730868703 | FBN1 | c.989-83T>C (n.989-83T>C) c.636+16811T>C (n.636+16811T>C) | dbSNP |
| 15 | g.48520901C>A | CA713423472 | FBN1 | c.989-84G>T (n.989-84G>T) c.636+16810G>T (n.636+16810G>T) | dbSNP |
| 15 | g.48520901C= | CA2175537958 | FBN1 | c.989-84G= (n.989-84G=) c.636+16810G= (n.636+16810G=) | |
| 15 | g.48520901C>T | CA2628336694 | FBN1 | c.989-84G>A (n.989-84G>A) c.636+16810G>A (n.636+16810G>A) | gnomAD v4 |
| 15 | g.48520902T>G | CA2175537960 | FBN1 | c.989-85A>C (n.989-85A>C) c.636+16809A>C (n.636+16809A>C) | dbSNP gnomAD v4 |
| 15 | g.48520902T= | CA2175537959 | FBN1 | c.989-85A= (n.989-85A=) c.636+16809A= (n.636+16809A=) | |
| 15 | g.48520904C>A | CA2575717650 | FBN1 | c.989-87G>T (n.989-87G>T) c.636+16807G>T (n.636+16807G>T) | gnomAD v4 |
| 15 | g.48520904C>T | CA2628336695 | FBN1 | c.989-87G>A (n.989-87G>A) c.636+16807G>A (n.636+16807G>A) | gnomAD v4 |
| 15 | g.48520905A= | CA2175537962 | FBN1 | c.989-88T= (n.989-88T=) c.636+16806T= (n.636+16806T=) | |
| 15 | g.48520905A>T | CA713423473 | FBN1 | c.989-88T>A (n.989-88T>A) c.636+16806T>A (n.636+16806T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520907A= | CA2175537964 | FBN1 | c.989-90T= (n.989-90T=) c.636+16804T= (n.636+16804T=) | |
| 15 | g.48520907A>G | CA713423474 | FBN1 | c.989-90T>C (n.989-90T>C) c.636+16804T>C (n.636+16804T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520908C>A | CA2628336696 | FBN1 | c.989-91G>T (n.989-91G>T) c.636+16803G>T (n.636+16803G>T) | gnomAD v4 |
| 15 | g.48520908C>T | CA2628336697 | FBN1 | c.989-91G>A (n.989-91G>A) c.636+16803G>A (n.636+16803G>A) | gnomAD v4 |
| 15 | g.48520909T>A | CA2628336698 | FBN1 | c.989-92A>T (n.989-92A>T) c.636+16802A>T (n.636+16802A>T) | gnomAD v4 |
| 15 | g.48520909T>C | CA269562737 | FBN1 | c.989-92A>G (n.989-92A>G) c.636+16802A>G (n.636+16802A>G) | dbSNP gnomAD v4 |
| 15 | g.48520909T= | CA2175537966 | FBN1 | c.989-92A= (n.989-92A=) c.636+16802A= (n.636+16802A=) | |
| 15 | g.48520910G>A | CA2175537972 | FBN1 | c.989-93C>T (n.989-93C>T) c.636+16801C>T (n.636+16801C>T) | dbSNP gnomAD v4 |
| 15 | g.48520910G>C | CA2175537973 | FBN1 | c.989-93C>G (n.989-93C>G) c.636+16801C>G (n.636+16801C>G) | dbSNP |
| 15 | g.48520910G= | CA2175537970 | FBN1 | c.989-93C= (n.989-93C=) c.636+16801C= (n.636+16801C=) | |
| 15 | g.48520910G>T | CA14170186 | FBN1 | c.989-93C>A (n.989-93C>A) c.636+16801C>A (n.636+16801C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520913del | CA2628336699 | FBN1 | c.989-93del (n.989-93del) c.636+16801del (n.636+16801del) | gnomAD v4 |
| 15 | g.48520911G>A | CA2628336700 | FBN1 | c.989-94C>T (n.989-94C>T) c.636+16800C>T (n.636+16800C>T) | gnomAD v4 |
| 15 | g.48520911G>C | CA2628336701 | FBN1 | c.989-94C>G (n.989-94C>G) c.636+16800C>G (n.636+16800C>G) | gnomAD v4 |
| 15 | g.48520911G>T | CA2804074061 | FBN1 | c.989-94C>A (n.989-94C>A) c.636+16800C>A (n.636+16800C>A) | |
| 15 | g.48520912G>A | CA2628336702 | FBN1 | c.989-95C>T (n.989-95C>T) c.636+16799C>T (n.636+16799C>T) | gnomAD v4 |
| 15 | g.48520912G>C | CA2628336703 | FBN1 | c.989-95C>G (n.989-95C>G) c.636+16799C>G (n.636+16799C>G) | gnomAD v4 |
| 15 | g.48520912G>T | CA2628336704 | FBN1 | c.989-95C>A (n.989-95C>A) c.636+16799C>A (n.636+16799C>A) | gnomAD v4 |
| 15 | g.48520913G>C | CA2628336705 | FBN1 | c.989-96C>G (n.989-96C>G) c.636+16798C>G (n.636+16798C>G) | gnomAD v4 |
| 15 | g.48520913G>T | CA2628336706 | FBN1 | c.989-96C>A (n.989-96C>A) c.636+16798C>A (n.636+16798C>A) | gnomAD v4 |
| 15 | g.48520914C>A | CA2628336707 | FBN1 | c.989-97G>T (n.989-97G>T) c.636+16797G>T (n.636+16797G>T) | gnomAD v4 |
| 15 | g.48520915T>C | CA2575717651 | FBN1 | c.989-98A>G (n.989-98A>G) c.636+16796A>G (n.636+16796A>G) | gnomAD v4 |
| 15 | g.48520917C= | CA2175537977 | FBN1 | c.989-100G= (n.989-100G=) c.636+16794G= (n.636+16794G=) | |
| 15 | g.48520917C>G | CA2175537975 | FBN1 | c.989-100G>C (n.989-100G>C) c.636+16794G>C (n.636+16794G>C) | dbSNP |
| 15 | g.48520917C>T | CA269562754 | FBN1 | c.989-100G>A (n.989-100G>A) c.636+16794G>A (n.636+16794G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520918G>A | CA713423476 | FBN1 | c.989-101C>T (n.989-101C>T) c.636+16793C>T (n.636+16793C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520918G= | CA2175537980 | FBN1 | c.989-101C= (n.989-101C=) c.636+16793C= (n.636+16793C=) | |
| 15 | g.48520918G>T | CA2628336708 | FBN1 | c.989-101C>A (n.989-101C>A) c.636+16793C>A (n.636+16793C>A) | gnomAD v4 |
| 15 | g.48520919G>A | CA2628336709 | FBN1 | c.989-102C>T (n.989-102C>T) c.636+16792C>T (n.636+16792C>T) | gnomAD v4 |
| 15 | g.48520919G>T | CA2628336710 | FBN1 | c.989-102C>A (n.989-102C>A) c.636+16792C>A (n.636+16792C>A) | gnomAD v4 |
| 15 | g.48520920C>T | CA2628336711 | FBN1 | c.989-103G>A (n.989-103G>A) c.636+16791G>A (n.636+16791G>A) | gnomAD v4 |
| 15 | g.48520922G>A | CA2628336712 | FBN1 | c.989-105C>T (n.989-105C>T) c.636+16789C>T (n.636+16789C>T) | gnomAD v4 |