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.48468471C>A | CA392353559 | FBN1 | c.4523G>T (p.Ser1508Ile) n.3197G>T c.*286G>T (n.*286G>T) | ClinVar dbSNP |
| 15 | g.48468471C= | CA2175518438 | FBN1 | c.4523G= (p.Ser1508=) n.3197G= c.*286G= (n.*286G=) | |
| 15 | g.48468471C>G | CA392353561 | FBN1 | c.4523G>C (p.Ser1508Thr) n.3197G>C c.*286G>C (n.*286G>C) | |
| 15 | g.48468471C>T | CA392353563 | FBN1 | c.4523G>A (p.Ser1508Asn) n.3197G>A c.*286G>A (n.*286G>A) | |
| 15 | g.48468472T>A | CA392353564 | FBN1 | c.4522A>T (p.Ser1508Cys) n.3196A>T c.*285A>T (n.*285A>T) | |
| 15 | g.48468472T>C | CA392353565 | FBN1 | c.4522A>G (p.Ser1508Gly) n.3196A>G c.*285A>G (n.*285A>G) | |
| 15 | g.48468472T>G | CA392353566 | FBN1 | c.4522A>C (p.Ser1508Arg) n.3196A>C c.*285A>C (n.*285A>C) | |
| 15 | g.48468473G>A | CA490027472 | FBN1 | c.4521C>T (p.Gly1507=) n.3195C>T c.*284C>T (n.*284C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468473G>C | CA490027473 | FBN1 | c.4521C>G (p.Gly1507=) n.3195C>G c.*284C>G (n.*284C>G) | |
| 15 | g.48468473G= | CA2175518439 | FBN1 | c.4521C= (p.Gly1507=) n.3195C= c.*284C= (n.*284C=) | |
| 15 | g.48468473G>T | CA490027474 | FBN1 | c.4521C>A (p.Gly1507=) n.3195C>A c.*284C>A (n.*284C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468474C>A | CA392353568 | FBN1 | c.4520G>T (p.Gly1507Val) n.3194G>T c.*283G>T (n.*283G>T) | ClinVar dbSNP |
| 15 | g.48468474C= | CA2175518440 | FBN1 | c.4520G= (p.Gly1507=) n.3194G= c.*283G= (n.*283G=) | |
| 15 | g.48468474C>G | CA392353572 | FBN1 | c.4520G>C (p.Gly1507Ala) n.3194G>C c.*283G>C (n.*283G>C) | |
| 15 | g.48468474C>T | CA015156 | FBN1 | c.4520G>A (p.Gly1507Asp) n.3194G>A c.*283G>A (n.*283G>A) | ClinVar dbSNP |
| 15 | g.48468475C>A | CA392353574 | FBN1 | c.4519G>T (p.Gly1507Cys) n.3193G>T c.*282G>T (n.*282G>T) | |
| 15 | g.48468475C>G | CA392353578 | FBN1 | c.4519G>C (p.Gly1507Arg) n.3193G>C c.*282G>C (n.*282G>C) | |
| 15 | g.48468475C>T | CA392353576 | FBN1 | c.4519G>A (p.Gly1507Ser) n.3193G>A c.*282G>A (n.*282G>A) | |
| 15 | g.48468476T>A | CA490027476 | FBN1 | c.4518A>T (p.Pro1506=) n.3192A>T c.*281A>T (n.*281A>T) | |
| 15 | g.48468476T>C | CA490027477 | FBN1 | c.4518A>G (p.Pro1506=) n.3192A>G c.*281A>G (n.*281A>G) | gnomAD v4 |
| 15 | g.48468476T>G | CA490027478 | FBN1 | c.4518A>C (p.Pro1506=) n.3192A>C c.*281A>C (n.*281A>C) | |
| 15 | g.48468476_48468479delinsCACTGATGCAC | CA2695220603 | FBN1 | c.4515_4518delinsGTGCATCAGTG (p.Pro1506CysfsTer9) n.3189_3192delinsGTGCATCAGTG c.*278_*281delinsGTGCATCAGTG (n.*278_*281delinsGTGCATCAGTG) | |
| 15 | g.48468477G>A | CA392353579 | FBN1 | c.4517C>T (p.Pro1506Leu) n.3191C>T c.*280C>T (n.*280C>T) | gnomAD v4 |
| 15 | g.48468477G>C | CA392353581 | FBN1 | c.4517C>G (p.Pro1506Arg) n.3191C>G c.*280C>G (n.*280C>G) | gnomAD v4 |
| 15 | g.48468477G>T | CA392353582 | FBN1 | c.4517C>A (p.Pro1506Gln) n.3191C>A c.*280C>A (n.*280C>A) | |
| 15 | g.48468478del | CA2499222991 | FBN1 | c.4517del (p.Pro1506GlnfsTer14) n.3191del c.*280del (n.*280del) | ClinVar dbSNP |
| 15 | g.48468478G>A | CA015149 | FBN1 | c.4516C>T (p.Pro1506Ser) n.3190C>T c.*279C>T (n.*279C>T) | ClinVar dbSNP |
| 15 | g.48468478G>C | CA269552369 | FBN1 | c.4516C>G (p.Pro1506Ala) n.3190C>G c.*279C>G (n.*279C>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468478G= | CA2175518441 | FBN1 | c.4516C= (p.Pro1506=) n.3190C= c.*279C= (n.*279C=) | |
| 15 | g.48468478G>T | CA392353583 | FBN1 | c.4516C>A (p.Pro1506Thr) n.3190C>A c.*279C>A (n.*279C>A) | ClinVar |
| 15 | g.48468479A>C | CA490027483 | FBN1 | c.4515T>G (p.Thr1505=) n.3189T>G c.*278T>G (n.*278T>G) | |
| 15 | g.48468479A>G | CA490027484 | FBN1 | c.4515T>C (p.Thr1505=) n.3189T>C c.*278T>C (n.*278T>C) | |
| 15 | g.48468479A>T | CA490027485 | FBN1 | c.4515T>A (p.Thr1505=) n.3189T>A c.*278T>A (n.*278T>A) | ClinVar gnomAD v4 |
| 15 | g.48468480G>A | CA392353586 | FBN1 | c.4514C>T (p.Thr1505Ile) n.3188C>T c.*277C>T (n.*277C>T) | |
| 15 | g.48468480G>C | CA392353587 | FBN1 | c.4514C>G (p.Thr1505Ser) n.3188C>G c.*277C>G (n.*277C>G) | gnomAD v4 |
| 15 | g.48468480G>T | CA392353588 | FBN1 | c.4514C>A (p.Thr1505Asn) n.3188C>A c.*277C>A (n.*277C>A) | gnomAD v4 |
| 15 | g.48468481T>A | CA392353589 | FBN1 | c.4513A>T (p.Thr1505Ser) n.3187A>T c.*276A>T (n.*276A>T) | |
| 15 | g.48468481T>C | CA392353591 | FBN1 | c.4513A>G (p.Thr1505Ala) n.3187A>G c.*276A>G (n.*276A>G) | gnomAD v4 |
| 15 | g.48468481T>G | CA392353597 | FBN1 | c.4513A>C (p.Thr1505Pro) n.3187A>C c.*276A>C (n.*276A>C) | |
| 15 | g.48468482G>A | CA490027489 | FBN1 | c.4512C>T (p.Asn1504=) n.3186C>T c.*275C>T (n.*275C>T) | ClinVar gnomAD v4 |
| 15 | g.48468482G>C | CA392353606 | FBN1 | c.4512C>G (p.Asn1504Lys) n.3186C>G c.*275C>G (n.*275C>G) | |
| 15 | g.48468482G>T | CA392353600 | FBN1 | c.4512C>A (p.Asn1504Lys) n.3186C>A c.*275C>A (n.*275C>A) | |
| 15 | g.48468482_48468493delinsGTTGACACAGTT | CA2175518442 | FBN1 | c.4501_4512delinsAACTGTGTCAAC (p.Asn1501=) n.3175_3186delinsAACTGTGTCAAC c.*264_*275delinsAACTGTGTCAAC (n.*264_*275delinsAACTGTGTCAAC) | |
| 15 | g.48468483T>A | CA392353609 | FBN1 | c.4511A>T (p.Asn1504Ile) n.3185A>T c.*274A>T (n.*274A>T) | ClinVar dbSNP |
| 15 | g.48468483T>C | CA392353610 | FBN1 | c.4511A>G (p.Asn1504Ser) n.3185A>G c.*274A>G (n.*274A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468483T>G | CA392353613 | FBN1 | c.4511A>C (p.Asn1504Thr) n.3185A>C c.*274A>C (n.*274A>C) | |
| 15 | g.48468483T= | CA2175518443 | FBN1 | c.4511A= (p.Asn1504=) n.3185A= c.*274A= (n.*274A=) | |
| 15 | g.48468483_48468493del | CA658824316 | FBN1 | c.4501_4511del (p.Asn1501HisfsTer8) n.3175_3185del c.*264_*274del (n.*264_*274del) | ClinVar dbSNP |
| 15 | g.48468484T>A | CA392353614 | FBN1 | c.4510A>T (p.Asn1504Tyr) n.3184A>T c.*273A>T (n.*273A>T) | ClinVar dbSNP |
| 15 | g.48468484T>C | CA392353615 | FBN1 | c.4510A>G (p.Asn1504Asp) n.3184A>G c.*273A>G (n.*273A>G) | |
| 15 | g.48468484T>G | CA392353621 | FBN1 | c.4510A>C (p.Asn1504His) n.3184A>C c.*273A>C (n.*273A>C) | |
| 15 | g.48468484T= | CA2175518444 | FBN1 | c.4510A= (p.Asn1504=) n.3184A= c.*273A= (n.*273A=) | |
| 15 | g.48468485G>A | CA490027491 | FBN1 | c.4509C>T (p.Val1503=) n.3183C>T c.*272C>T (n.*272C>T) | |
| 15 | g.48468485G>C | CA490027492 | FBN1 | c.4509C>G (p.Val1503=) n.3183C>G c.*272C>G (n.*272C>G) | |
| 15 | g.48468485G>T | CA490027493 | FBN1 | c.4509C>A (p.Val1503=) n.3183C>A c.*272C>A (n.*272C>A) | |
| 15 | g.48468486A= | CA2175518445 | FBN1 | c.4508T= (p.Val1503=) n.3182T= c.*271T= (n.*271T=) | |
| 15 | g.48468486A>C | CA392353623 | FBN1 | c.4508T>G (p.Val1503Gly) n.3182T>G c.*271T>G (n.*271T>G) | |
| 15 | g.48468486A>G | CA392353624 | FBN1 | c.4508T>C (p.Val1503Ala) n.3182T>C c.*271T>C (n.*271T>C) | dbSNP gnomAD v4 |
| 15 | g.48468486A>T | CA392353626 | FBN1 | c.4508T>A (p.Val1503Asp) n.3182T>A c.*271T>A (n.*271T>A) | |
| 15 | g.48468489_48468490del | CA2695220604 | FBN1 | c.4507_4508del (p.Val1503GlnfsTer9) n.3181_3182del c.*270_*271del (n.*270_*271del) | |
| 15 | g.48468487C>A | CA392353628 | FBN1 | c.4507G>T (p.Val1503Phe) n.3181G>T c.*270G>T (n.*270G>T) | |
| 15 | g.48468487C= | CA2175518446 | FBN1 | c.4507G= (p.Val1503=) n.3181G= c.*270G= (n.*270G=) | |
| 15 | g.48468487C>G | CA392353629 | FBN1 | c.4507G>C (p.Val1503Leu) n.3181G>C c.*270G>C (n.*270G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468487C>T | CA392353630 | FBN1 | c.4507G>A (p.Val1503Ile) n.3181G>A c.*270G>A (n.*270G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468488A>C | CA392353633 | FBN1 | c.4506T>G (p.Cys1502Trp) n.3180T>G c.*269T>G (n.*269T>G) | |
| 15 | g.48468488A>G | CA490027498 | FBN1 | c.4506T>C (p.Cys1502=) n.3180T>C c.*269T>C (n.*269T>C) | |
| 15 | g.48468488A>T | CA392353631 | FBN1 | c.4506T>A (p.Cys1502Ter) n.3180T>A c.*269T>A (n.*269T>A) | ClinVar |
| 15 | g.48468489C>A | CA392353635 | FBN1 | c.4505G>T (p.Cys1502Phe) n.3179G>T c.*268G>T (n.*268G>T) | |
| 15 | g.48468489C= | CA2175518447 | FBN1 | c.4505G= (p.Cys1502=) n.3179G= c.*268G= (n.*268G=) | |
| 15 | g.48468489C>G | CA392353638 | FBN1 | c.4505G>C (p.Cys1502Ser) n.3179G>C c.*268G>C (n.*268G>C) | |
| 15 | g.48468489C>T | CA015141 | FBN1 | c.4505G>A (p.Cys1502Tyr) n.3179G>A c.*268G>A (n.*268G>A) | ClinVar dbSNP |
| 15 | g.48468490A>C | CA392353641 | FBN1 | c.4504T>G (p.Cys1502Gly) n.3178T>G c.*267T>G (n.*267T>G) | |
| 15 | g.48468490A>G | CA392353643 | FBN1 | c.4504T>C (p.Cys1502Arg) n.3178T>C c.*267T>C (n.*267T>C) | ClinVar dbSNP |
| 15 | g.48468490A>T | CA392353645 | FBN1 | c.4504T>A (p.Cys1502Ser) n.3178T>A c.*267T>A (n.*267T>A) | |
| 15 | g.48468491G>A | CA490027502 | FBN1 | c.4503C>T (p.Asn1501=) n.3177C>T c.*266C>T (n.*266C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468491G>C | CA392353648 | FBN1 | c.4503C>G (p.Asn1501Lys) n.3177C>G c.*266C>G (n.*266C>G) | |
| 15 | g.48468491G= | CA2175518448 | FBN1 | c.4503C= (p.Asn1501=) n.3177C= c.*266C= (n.*266C=) | |
| 15 | g.48468491G>T | CA392353650 | FBN1 | c.4503C>A (p.Asn1501Lys) n.3177C>A c.*266C>A (n.*266C>A) | |
| 15 | g.48468492T>A | CA392353652 | FBN1 | c.4502A>T (p.Asn1501Ile) n.3176A>T c.*265A>T (n.*265A>T) | |
| 15 | g.48468492T>C | CA392353654 | FBN1 | c.4502A>G (p.Asn1501Ser) n.3176A>G c.*265A>G (n.*265A>G) | dbSNP |
| 15 | g.48468492T>G | CA392353656 | FBN1 | c.4502A>C (p.Asn1501Thr) n.3176A>C c.*265A>C (n.*265A>C) | |
| 15 | g.48468492T= | CA2175518449 | FBN1 | c.4502A= (p.Asn1501=) n.3176A= c.*265A= (n.*265A=) | |
| 15 | g.48468493T>A | CA392353658 | FBN1 | c.4501A>T (p.Asn1501Tyr) n.3175A>T c.*264A>T (n.*264A>T) | |
| 15 | g.48468493T>C | CA392353659 | FBN1 | c.4501A>G (p.Asn1501Asp) n.3175A>G c.*264A>G (n.*264A>G) | |
| 15 | g.48468493T>G | CA392353662 | FBN1 | c.4501A>C (p.Asn1501His) n.3175A>C c.*264A>C (n.*264A>C) | |
| 15 | g.48468494C>A | CA490027506 | FBN1 | c.4500G>T (p.Gly1500=) n.3174G>T c.*263G>T (n.*263G>T) | |
| 15 | g.48468494C>G | CA490027507 | FBN1 | c.4500G>C (p.Gly1500=) n.3174G>C c.*263G>C (n.*263G>C) | |
| 15 | g.48468494C>T | CA490027505 | FBN1 | c.4500G>A (p.Gly1500=) n.3174G>A c.*263G>A (n.*263G>A) | |
| 15 | g.48468495C>A | CA392353666 | FBN1 | c.4499G>T (p.Gly1500Val) n.3173G>T c.*262G>T (n.*262G>T) | |
| 15 | g.48468495C>G | CA392353664 | FBN1 | c.4499G>C (p.Gly1500Ala) n.3173G>C c.*262G>C (n.*262G>C) | |
| 15 | g.48468495C>T | CA392353663 | FBN1 | c.4499G>A (p.Gly1500Glu) n.3173G>A c.*262G>A (n.*262G>A) | COSMIC |
| 15 | g.48468496C>A | CA392353669 | FBN1 | c.4498G>T (p.Gly1500Trp) n.3172G>T c.*261G>T (n.*261G>T) | |
| 15 | g.48468496C>G | CA392353670 | FBN1 | c.4498G>C (p.Gly1500Arg) n.3172G>C c.*261G>C (n.*261G>C) | |
| 15 | g.48468496C>T | CA392353672 | FBN1 | c.4498G>A (p.Gly1500Arg) n.3172G>A c.*261G>A (n.*261G>A) | |
| 15 | g.48468497A>C | CA392353674 | FBN1 | c.4497T>G (p.Ser1499Arg) n.3171T>G c.*260T>G (n.*260T>G) | |
| 15 | g.48468497A>G | CA490027511 | FBN1 | c.4497T>C (p.Ser1499=) n.3171T>C c.*260T>C (n.*260T>C) | gnomAD v4 |
| 15 | g.48468497A>T | CA392353676 | FBN1 | c.4497T>A (p.Ser1499Arg) n.3171T>A c.*260T>A (n.*260T>A) | |
| 15 | g.48468498C>A | CA392353678 | FBN1 | c.4496G>T (p.Ser1499Ile) n.3170G>T c.*259G>T (n.*259G>T) | |
| 15 | g.48468498C>G | CA392353680 | FBN1 | c.4496G>C (p.Ser1499Thr) n.3170G>C c.*259G>C (n.*259G>C) | |
| 15 | g.48468498C>T | CA392353683 | FBN1 | c.4496G>A (p.Ser1499Asn) n.3170G>A c.*259G>A (n.*259G>A) | gnomAD v4 |
| 15 | g.48468499T>A | CA392353685 | FBN1 | c.4495A>T (p.Ser1499Cys) n.3169A>T c.*258A>T (n.*258A>T) | |
| 15 | g.48468499T>C | CA392353695 | FBN1 | c.4495A>G (p.Ser1499Gly) n.3169A>G c.*258A>G (n.*258A>G) | |
| 15 | g.48468499T>G | CA392353698 | FBN1 | c.4495A>C (p.Ser1499Arg) n.3169A>C c.*258A>C (n.*258A>C) | |
| 15 | g.48468500G>A | CA490027515 | FBN1 | c.4494C>T (p.Ile1498=) n.3168C>T c.*257C>T (n.*257C>T) | gnomAD v4 |
| 15 | g.48468500G>C | CA392353701 | FBN1 | c.4494C>G (p.Ile1498Met) n.3168C>G c.*257C>G (n.*257C>G) | |
| 15 | g.48468500G>T | CA490027514 | FBN1 | c.4494C>A (p.Ile1498=) n.3168C>A c.*257C>A (n.*257C>A) | |
| 15 | g.48468501A>C | CA392353704 | FBN1 | c.4493T>G (p.Ile1498Ser) n.3167T>G c.*256T>G (n.*256T>G) | |
| 15 | g.48468501A>G | CA392353708 | FBN1 | c.4493T>C (p.Ile1498Thr) n.3167T>C c.*256T>C (n.*256T>C) | |
| 15 | g.48468501A>T | CA392353706 | FBN1 | c.4493T>A (p.Ile1498Asn) n.3167T>A c.*256T>A (n.*256T>A) | |
| 15 | g.48468502T>A | CA392353712 | FBN1 | c.4492A>T (p.Ile1498Phe) n.3166A>T c.*255A>T (n.*255A>T) | |
| 15 | g.48468502T>C | CA015134 | FBN1 | c.4492A>G (p.Ile1498Val) n.3166A>G c.*255A>G (n.*255A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468502T>G | CA392353714 | FBN1 | c.4492A>C (p.Ile1498Leu) n.3166A>C c.*255A>C (n.*255A>C) | |
| 15 | g.48468502T= | CA2175518450 | FBN1 | c.4492A= (p.Ile1498=) n.3166A= c.*255A= (n.*255A=) | |
| 15 | g.48468503G>A | CA490027517 | FBN1 | c.4491C>T (p.Cys1497=) n.3165C>T c.*254C>T (n.*254C>T) | dbSNP gnomAD v4 |
| 15 | g.48468503G>C | CA392353718 | FBN1 | c.4491C>G (p.Cys1497Trp) n.3165C>G c.*254C>G (n.*254C>G) | ClinVar dbSNP |
| 15 | g.48468503G= | CA2175518451 | FBN1 | c.4491C= (p.Cys1497=) n.3165C= c.*254C= (n.*254C=) | |
| 15 | g.48468503G>T | CA392353720 | FBN1 | c.4491C>A (p.Cys1497Ter) n.3165C>A c.*254C>A (n.*254C>A) | ClinVar dbSNP |
| 15 | g.48468504C>A | CA392353722 | FBN1 | c.4490G>T (p.Cys1497Phe) n.3164G>T c.*253G>T (n.*253G>T) | |
| 15 | g.48468504C= | CA2175518452 | FBN1 | c.4490G= (p.Cys1497=) n.3164G= c.*253G= (n.*253G=) | |
| 15 | g.48468504C>G | CA392353724 | FBN1 | c.4490G>C (p.Cys1497Ser) n.3164G>C c.*253G>C (n.*253G>C) | ClinVar dbSNP |
| 15 | g.48468504C>T | CA392353726 | FBN1 | c.4490G>A (p.Cys1497Tyr) n.3164G>A c.*253G>A (n.*253G>A) | ClinVar dbSNP |
| 15 | g.48468505A= | CA2175518453 | FBN1 | c.4489T= (p.Cys1497=) n.3163T= c.*252T= (n.*252T=) | |
| 15 | g.48468505A>C | CA392353728 | FBN1 | c.4489T>G (p.Cys1497Gly) n.3163T>G c.*252T>G (n.*252T>G) | |
| 15 | g.48468505A>G | CA392353730 | FBN1 | c.4489T>C (p.Cys1497Arg) n.3163T>C c.*252T>C (n.*252T>C) | ClinVar dbSNP |
| 15 | g.48468505A>T | CA392353732 | FBN1 | c.4489T>A (p.Cys1497Ser) n.3163T>A c.*252T>A (n.*252T>A) | ClinVar dbSNP |
| 15 | g.48468506C>A | CA490027520 | FBN1 | c.4488G>T (p.Thr1496=) n.3162G>T c.*251G>T (n.*251G>T) | |
| 15 | g.48468506C= | CA2175518454 | FBN1 | c.4488G= (p.Thr1496=) n.3162G= c.*251G= (n.*251G=) | |
| 15 | g.48468506C>G | CA269552431 | FBN1 | c.4488G>C (p.Thr1496=) n.3162G>C c.*251G>C (n.*251G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468506C>T | CA053179 | FBN1 | c.4488G>A (p.Thr1496=) n.3162G>A c.*251G>A (n.*251G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468507G>A | CA053175 | FBN1 | c.4487C>T (p.Thr1496Met) n.3161C>T c.*250C>T (n.*250C>T) | ClinVar dbSNP ExAC gnomAD v4 |
| 15 | g.48468507G>C | CA392353738 | FBN1 | c.4487C>G (p.Thr1496Arg) n.3161C>G c.*250C>G (n.*250C>G) | |
| 15 | g.48468507G= | CA2175518455 | FBN1 | c.4487C= (p.Thr1496=) n.3161C= c.*250C= (n.*250C=) | |
| 15 | g.48468507G>T | CA392353740 | FBN1 | c.4487C>A (p.Thr1496Lys) n.3161C>A c.*250C>A (n.*250C>A) | |
| 15 | g.48468508T>A | CA392353746 | FBN1 | c.4486A>T (p.Thr1496Ser) n.3160A>T c.*249A>T (n.*249A>T) | |
| 15 | g.48468508T>C | CA392353744 | FBN1 | c.4486A>G (p.Thr1496Ala) n.3160A>G c.*249A>G (n.*249A>G) | |
| 15 | g.48468508T>G | CA392353742 | FBN1 | c.4486A>C (p.Thr1496Pro) n.3160A>C c.*249A>C (n.*249A>C) | |
| 15 | g.48468509G>A | CA053167 | FBN1 | c.4485C>T (p.Thr1495=) n.3159C>T c.*248C>T (n.*248C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.48468509G>C | CA490027524 | FBN1 | c.4485C>G (p.Thr1495=) n.3159C>G c.*248C>G (n.*248C>G) | |
| 15 | g.48468509G= | CA2175518456 | FBN1 | c.4485C= (p.Thr1495=) n.3159C= c.*248C= (n.*248C=) | |
| 15 | g.48468509G>T | CA490027527 | FBN1 | c.4485C>A (p.Thr1495=) n.3159C>A c.*248C>A (n.*248C>A) | |
| 15 | g.48468510del | CA2695220605 | FBN1 | c.4485del (p.Thr1496ArgfsTer24) n.3159del c.*248del (n.*248del) | |
| 15 | g.48468510G>A | CA392353749 | FBN1 | c.4484C>T (p.Thr1495Ile) n.3158C>T c.*247C>T (n.*247C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468510G>C | CA392353750 | FBN1 | c.4484C>G (p.Thr1495Ser) n.3158C>G c.*247C>G (n.*247C>G) | |
| 15 | g.48468510G= | CA2175518457 | FBN1 | c.4484C= (p.Thr1495=) n.3158C= c.*247C= (n.*247C=) | |
| 15 | g.48468510G>T | CA392353752 | FBN1 | c.4484C>A (p.Thr1495Asn) n.3158C>A c.*247C>A (n.*247C>A) | |
| 15 | g.48468511T>A | CA392353755 | FBN1 | c.4483A>T (p.Thr1495Ser) n.3157A>T c.*246A>T (n.*246A>T) | |
| 15 | g.48468511T>C | CA392353757 | FBN1 | c.4483A>G (p.Thr1495Ala) n.3157A>G c.*246A>G (n.*246A>G) | |
| 15 | g.48468511T>G | CA392353759 | FBN1 | c.4483A>C (p.Thr1495Pro) n.3157A>C c.*246A>C (n.*246A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48468511T= | CA2175518458 | FBN1 | c.4483A= (p.Thr1495=) n.3157A= c.*246A= (n.*246A=) | |
| 15 | g.48468512T>A | CA490027529 | FBN1 | c.4482A>T (p.Pro1494=) n.3156A>T c.*245A>T (n.*245A>T) | |
| 15 | g.48468512T>C | CA490027530 | FBN1 | c.4482A>G (p.Pro1494=) n.3156A>G c.*245A>G (n.*245A>G) | |
| 15 | g.48468512T>G | CA490027531 | FBN1 | c.4482A>C (p.Pro1494=) n.3156A>C c.*245A>C (n.*245A>C) | |
| 15 | g.48468513G>A | CA392353762 | FBN1 | c.4481C>T (p.Pro1494Leu) n.3155C>T c.*244C>T (n.*244C>T) | |
| 15 | g.48468513G>C | CA392353764 | FBN1 | c.4481C>G (p.Pro1494Arg) n.3155C>G c.*244C>G (n.*244C>G) | |
| 15 | g.48468513G>T | CA392353766 | FBN1 | c.4481C>A (p.Pro1494Gln) n.3155C>A c.*244C>A (n.*244C>A) | |
| 15 | g.48468514G>A | CA392353769 | FBN1 | c.4480C>T (p.Pro1494Ser) n.3154C>T c.*243C>T (n.*243C>T) | ClinVar dbSNP COSMIC |
| 15 | g.48468514G>C | CA392353771 | FBN1 | c.4480C>G (p.Pro1494Ala) n.3154C>G c.*243C>G (n.*243C>G) | |
| 15 | g.48468514G= | CA2175518459 | FBN1 | c.4480C= (p.Pro1494=) n.3154C= c.*243C= (n.*243C=) | |
| 15 | g.48468514G>T | CA392353773 | FBN1 | c.4480C>A (p.Pro1494Thr) n.3154C>A c.*243C>A (n.*243C>A) | COSMIC |
| 15 | g.48468515A>C | CA392353776 | FBN1 | c.4479T>G (p.Asp1493Glu) n.3153T>G c.*242T>G (n.*242T>G) | |
| 15 | g.48468515A>G | CA490027534 | FBN1 | c.4479T>C (p.Asp1493=) n.3153T>C c.*242T>C (n.*242T>C) | |
| 15 | g.48468515A>T | CA392353778 | FBN1 | c.4479T>A (p.Asp1493Glu) n.3153T>A c.*242T>A (n.*242T>A) | |
| 15 | g.48468516T>A | CA392353782 | FBN1 | c.4478A>T (p.Asp1493Val) n.3152A>T c.*241A>T (n.*241A>T) | dbSNP |
| 15 | g.48468516T>C | CA392353784 | FBN1 | c.4478A>G (p.Asp1493Gly) n.3152A>G c.*241A>G (n.*241A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468516T>G | CA392353786 | FBN1 | c.4478A>C (p.Asp1493Ala) n.3152A>C c.*241A>C (n.*241A>C) | gnomAD v4 |
| 15 | g.48468516T= | CA2175518460 | FBN1 | c.4478A= (p.Asp1493=) n.3152A= c.*241A= (n.*241A=) | |
| 15 | g.48468517C>A | CA392353789 | FBN1 | c.4477G>T (p.Asp1493Tyr) n.3151G>T c.*240G>T (n.*240G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468517C= | CA2175518461 | FBN1 | c.4477G= (p.Asp1493=) n.3151G= c.*240G= (n.*240G=) | |
| 15 | g.48468517C>G | CA392353791 | FBN1 | c.4477G>C (p.Asp1493His) n.3151G>C c.*240G>C (n.*240G>C) | |
| 15 | g.48468517C>T | CA392353793 | FBN1 | c.4477G>A (p.Asp1493Asn) n.3151G>A c.*240G>A (n.*240G>A) | gnomAD v4 |
| 15 | g.48468518C>A | CA490027538 | FBN1 | c.4476G>T (p.Leu1492=) n.3150G>T c.*239G>T (n.*239G>T) | |
| 15 | g.48468518C>G | CA490027537 | FBN1 | c.4476G>C (p.Leu1492=) n.3150G>C c.*239G>C (n.*239G>C) | |
| 15 | g.48468518C>T | CA490027536 | FBN1 | c.4476G>A (p.Leu1492=) n.3150G>A c.*239G>A (n.*239G>A) | |
| 15 | g.48468519A>C | CA392353797 | FBN1 | c.4475T>G (p.Leu1492Arg) n.3149T>G c.*238T>G (n.*238T>G) | |
| 15 | g.48468519A>G | CA392353798 | FBN1 | c.4475T>C (p.Leu1492Pro) n.3149T>C c.*238T>C (n.*238T>C) | |
| 15 | g.48468519A>T | CA392353799 | FBN1 | c.4475T>A (p.Leu1492Gln) n.3149T>A c.*238T>A (n.*238T>A) | |
| 15 | g.48468519_48468520delinsAG | CA2175518462 | FBN1 | c.4474_4475delinsCT (p.Leu1492=) n.3148_3149delinsCT c.*237_*238delinsCT (n.*237_*238delinsCT) | |
| 15 | g.48468520G>A | CA490027542 | FBN1 | c.4474C>T (p.Leu1492=) n.3148C>T c.*237C>T (n.*237C>T) | |
| 15 | g.48468520G>C | CA392353802 | FBN1 | c.4474C>G (p.Leu1492Val) n.3148C>G c.*237C>G (n.*237C>G) | |
| 15 | g.48468520G>T | CA392353803 | FBN1 | c.4474C>A (p.Leu1492Met) n.3148C>A c.*237C>A (n.*237C>A) | |
| 15 | g.48468521del | CA658824317 | FBN1 | c.4474del (p.Leu1492TrpfsTer28) n.3148del c.*237del (n.*237del) | ClinVar dbSNP |
| 15 | g.48468521G>A | CA490027543 | FBN1 | c.4473C>T (p.Cys1491=) n.3147C>T c.*236C>T (n.*236C>T) | |
| 15 | g.48468521G>C | CA392353804 | FBN1 | c.4473C>G (p.Cys1491Trp) n.3147C>G c.*236C>G (n.*236C>G) | ClinVar dbSNP |
| 15 | g.48468521G= | CA2175518463 | FBN1 | c.4473C= (p.Cys1491=) n.3147C= c.*236C= (n.*236C=) | |
| 15 | g.48468521G>T | CA392353805 | FBN1 | c.4473C>A (p.Cys1491Ter) n.3147C>A c.*236C>A (n.*236C>A) | |
| 15 | g.48468522C>A | CA392353806 | FBN1 | c.4472G>T (p.Cys1491Phe) n.3146G>T c.*235G>T (n.*235G>T) | ClinVar dbSNP |
| 15 | g.48468522C>G | CA392353808 | FBN1 | c.4472G>C (p.Cys1491Ser) n.3146G>C c.*235G>C (n.*235G>C) | |
| 15 | g.48468522C>T | CA392353807 | FBN1 | c.4472G>A (p.Cys1491Tyr) n.3146G>A c.*235G>A (n.*235G>A) | ClinVar |
| 15 | g.48468523A>C | CA392353809 | FBN1 | c.4471T>G (p.Cys1491Gly) n.3145T>G c.*234T>G (n.*234T>G) | |
| 15 | g.48468523A>G | CA392353810 | FBN1 | c.4471T>C (p.Cys1491Arg) n.3145T>C c.*234T>C (n.*234T>C) | ClinVar dbSNP |
| 15 | g.48468523A>T | CA392353811 | FBN1 | c.4471T>A (p.Cys1491Ser) n.3145T>A c.*234T>A (n.*234T>A) | ClinVar |
| 15 | g.48468524T>A | CA392353812 | FBN1 | c.4470A>T (p.Glu1490Asp) n.3144A>T c.*233A>T (n.*233A>T) | gnomAD v4 |
| 15 | g.48468524T>C | CA490027548 | FBN1 | c.4470A>G (p.Glu1490=) n.3144A>G c.*233A>G (n.*233A>G) | |
| 15 | g.48468524T>G | CA392353813 | FBN1 | c.4470A>C (p.Glu1490Asp) n.3144A>C c.*233A>C (n.*233A>C) | |
| 15 | g.48468525T>A | CA392353814 | FBN1 | c.4469A>T (p.Glu1490Val) n.3143A>T c.*232A>T (n.*232A>T) | |
| 15 | g.48468525T>C | CA392353815 | FBN1 | c.4469A>G (p.Glu1490Gly) n.3143A>G c.*232A>G (n.*232A>G) | ClinVar dbSNP |
| 15 | g.48468525T>G | CA392353816 | FBN1 | c.4469A>C (p.Glu1490Ala) n.3143A>C c.*232A>C (n.*232A>C) | COSMIC |
| 15 | g.48468525T= | CA2175518464 | FBN1 | c.4469A= (p.Glu1490=) n.3143A= c.*232A= (n.*232A=) | |
| 15 | g.48468526C>A | CA16614646 | FBN1 | c.4468G>T (p.Glu1490Ter) n.3142G>T c.*231G>T (n.*231G>T) | ClinVar dbSNP COSMIC |
| 15 | g.48468526C= | CA2175518465 | FBN1 | c.4468G= (p.Glu1490=) n.3142G= c.*231G= (n.*231G=) | |
| 15 | g.48468526C>G | CA392353817 | FBN1 | c.4468G>C (p.Glu1490Gln) n.3142G>C c.*231G>C (n.*231G>C) | |
| 15 | g.48468526C>T | CA392353818 | FBN1 | c.4468G>A (p.Glu1490Lys) n.3142G>A c.*231G>A (n.*231G>A) | ClinVar dbSNP |
| 15 | g.48468527A= | CA2175518466 | FBN1 | c.4467T= (p.Asn1489=) n.3141T= c.*230T= (n.*230T=) | |
| 15 | g.48468527A>C | CA392353819 | FBN1 | c.4467T>G (p.Asn1489Lys) n.3141T>G c.*230T>G (n.*230T>G) | |
| 15 | g.48468527A>G | CA490027552 | FBN1 | c.4467T>C (p.Asn1489=) n.3141T>C c.*230T>C (n.*230T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48468527A>T | CA015124 | FBN1 | c.4467T>A (p.Asn1489Lys) n.3141T>A c.*230T>A (n.*230T>A) | ClinVar dbSNP |
| 15 | g.48468528T>A | CA392353820 | FBN1 | c.4466A>T (p.Asn1489Ile) n.3140A>T c.*229A>T (n.*229A>T) | |
| 15 | g.48468528T>C | CA16042872 | FBN1 | c.4466A>G (p.Asn1489Ser) n.3140A>G c.*229A>G (n.*229A>G) | ClinVar dbSNP |
| 15 | g.48468528T>G | CA392353821 | FBN1 | c.4466A>C (p.Asn1489Thr) n.3140A>C c.*229A>C (n.*229A>C) | |
| 15 | g.48468528T= | CA2175518467 | FBN1 | c.4466A= (p.Asn1489=) n.3140A= c.*229A= (n.*229A=) | |
| 15 | g.48468529T>A | CA392353822 | FBN1 | c.4465A>T (p.Asn1489Tyr) n.3139A>T c.*228A>T (n.*228A>T) | |
| 15 | g.48468529T>C | CA392353823 | FBN1 | c.4465A>G (p.Asn1489Asp) n.3139A>G c.*228A>G (n.*228A>G) | |
| 15 | g.48468529T>G | CA392353824 | FBN1 | c.4465A>C (p.Asn1489His) n.3139A>C c.*228A>C (n.*228A>C) | |
| 15 | g.48468530C>A | CA490027556 | FBN1 | c.4464G>T (p.Val1488=) n.3138G>T c.*227G>T (n.*227G>T) | |
| 15 | g.48468530C= | CA2175518468 | FBN1 | c.4464G= (p.Val1488=) n.3138G= c.*227G= (n.*227G=) | |
| 15 | g.48468530C>G | CA490027557 | FBN1 | c.4464G>C (p.Val1488=) n.3138G>C c.*227G>C (n.*227G>C) | |
| 15 | g.48468530C>T | CA490027558 | FBN1 | c.4464G>A (p.Val1488=) n.3138G>A c.*227G>A (n.*227G>A) | dbSNP |
| 15 | g.48468531A= | CA2175518469 | FBN1 | c.4463T= (p.Val1488=) n.3137T= c.*226T= (n.*226T=) | |
| 15 | g.48468531A>C | CA392353825 | FBN1 | c.4463T>G (p.Val1488Gly) n.3137T>G c.*226T>G (n.*226T>G) | |
| 15 | g.48468531A>G | CA392353826 | FBN1 | c.4463T>C (p.Val1488Ala) n.3137T>C c.*226T>C (n.*226T>C) | |
| 15 | g.48468531A>T | CA392353827 | FBN1 | c.4463T>A (p.Val1488Glu) n.3137T>A c.*226T>A (n.*226T>A) | dbSNP |
| 15 | g.48468532C>A | CA392353828 | FBN1 | c.4462G>T (p.Val1488Leu) n.3136G>T c.*225G>T (n.*225G>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468532C= | CA2175518470 | FBN1 | c.4462G= (p.Val1488=) n.3136G= c.*225G= (n.*225G=) | |
| 15 | g.48468532C>G | CA392353829 | FBN1 | c.4462G>C (p.Val1488Leu) n.3136G>C c.*225G>C (n.*225G>C) | |
| 15 | g.48468532C>T | CA392353830 | FBN1 | c.4462G>A (p.Val1488Met) n.3136G>A c.*225G>A (n.*225G>A) | |
| 15 | g.48468533A>C | CA392353831 | FBN1 | c.4461T>G (p.Asp1487Glu) n.3135T>G c.*224T>G (n.*224T>G) | gnomAD v4 |
| 15 | g.48468533A>G | CA490027563 | FBN1 | c.4461T>C (p.Asp1487=) n.3135T>C c.*224T>C (n.*224T>C) | |
| 15 | g.48468533A>T | CA392353832 | FBN1 | c.4461T>A (p.Asp1487Glu) n.3135T>A c.*224T>A (n.*224T>A) | gnomAD v4 |
| 15 | g.48468534T>A | CA392353835 | FBN1 | c.4460A>T (p.Asp1487Val) n.3134A>T c.*223A>T (n.*223A>T) | |
| 15 | g.48468534T>C | CA392353834 | FBN1 | c.4460A>G (p.Asp1487Gly) n.3134A>G c.*223A>G (n.*223A>G) | ClinVar dbSNP |
| 15 | g.48468534T>G | CA392353833 | FBN1 | c.4460A>C (p.Asp1487Ala) n.3134A>C c.*223A>C (n.*223A>C) | ClinVar dbSNP |
| 15 | g.48468534T= | CA2175518471 | FBN1 | c.4460A= (p.Asp1487=) n.3134A= c.*223A= (n.*223A=) | |
| 15 | g.48468535C>A | CA392353836 | FBN1 | c.4460-1G>T (n.4460-1G>T) n.3134-1G>T c.*223-1G>T (n.*223-1G>T) | ClinVar |
| 15 | g.48468535C= | CA2175518472 | FBN1 | c.4460-1G= (n.4460-1G=) n.3134-1G= c.*223-1G= (n.*223-1G=) | |
| 15 | g.48468535C>G | CA269552490 | FBN1 | c.4460-1G>C (n.4460-1G>C) n.3134-1G>C c.*223-1G>C (n.*223-1G>C) | ClinVar dbSNP |
| 15 | g.48468535C>T | CA392353837 | FBN1 | c.4460-1G>A (n.4460-1G>A) n.3134-1G>A c.*223-1G>A (n.*223-1G>A) | |
| 15 | g.48468536T>A | CA392353838 | FBN1 | c.4460-2A>T (n.4460-2A>T) n.3134-2A>T c.*223-2A>T (n.*223-2A>T) | |
| 15 | g.48468536T>C | CA392353839 | FBN1 | c.4460-2A>G (n.4460-2A>G) n.3134-2A>G c.*223-2A>G (n.*223-2A>G) | |
| 15 | g.48468536T>G | CA392353840 | FBN1 | c.4460-2A>C (n.4460-2A>C) n.3134-2A>C c.*223-2A>C (n.*223-2A>C) | |
| 15 | g.48468536_48468537insGCTAGCGGGGCTGCC | CA2628333386 | FBN1 | c.4460-3_4460-2insGGCAGCCCCGCTAGC (n.4460-3_4460-2insGGCAGCCCCGCTAGC) n.3134-3_3134-2insGGCAGCCCCGCTAGC c.*223-3_*223-2insGGCAGCCCCGCTAGC (n.*223-3_*223-2insGGCAGCCCCGCTAGC) | gnomAD v4 |
| 15 | g.48468536_48468537insGCTAGCGGGGCTGCCAGAGCCCTCCCGGCCAGGC | CA2628333390 | FBN1 | c.4460-3_4460-2insGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC (n.4460-3_4460-2insGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC) n.3134-3_3134-2insGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC c.*223-3_*223-2insGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC (n.*223-3_*223-2insGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC) | gnomAD v4 |
| 15 | g.48468536_48468537insGCTAGCGGGGCTGCCAGAGCCCTCCCGGCCAGGCAAAGGAG | CA2628333392 | FBN1 | c.4460-3_4460-2insCTCCTTTGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC (n.4460-3_4460-2insCTCCTTTGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC) n.3134-3_3134-2insCTCCTTTGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC c.*223-3_*223-2insCTCCTTTGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC (n.*223-3_*223-2insCTCCTTTGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC) | gnomAD v4 |
| 15 | g.48468536_48468537insGCTAGCGGGGCTGCCAGAGCCCTCCCGGCCAGGCAAAGGAGAAAGAAGATCC | CA2628333393 | FBN1 | c.4460-3_4460-2insGGATCTTCTTTCTCCTTTGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC (n.4460-3_4460-2insGGATCTTCTTTCTCCTTTGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC) n.3134-3_3134-2insGGATCTTCTTTCTCCTTTGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC c.*223-3_*223-2insGGATCTTCTTTCTCCTTTGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC (n.*223-3_*223-2insGGATCTTCTTTCTCCTTTGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC) | gnomAD v4 |
| 15 | g.48468537A>C | CA2628333394 | FBN1 | c.4460-3T>G (n.4460-3T>G) n.3134-3T>G c.*223-3T>G (n.*223-3T>G) | gnomAD v4 |
| 15 | g.48468537A>G | CA2628333395 | FBN1 | c.4460-3T>C (n.4460-3T>C) n.3134-3T>C c.*223-3T>C (n.*223-3T>C) | gnomAD v4 |
| 15 | g.48468538A>G | CA2628333396 | FBN1 | c.4460-4T>C (n.4460-4T>C) n.3134-4T>C c.*223-4T>C (n.*223-4T>C) | gnomAD v4 |
| 15 | g.48468540A>G | CA2628333398 | FBN1 | c.4460-6T>C (n.4460-6T>C) n.3134-6T>C c.*223-6T>C (n.*223-6T>C) | gnomAD v4 |
| 15 | g.48468541C>A | CA2804071539 | FBN1 | c.4460-7G>T (n.4460-7G>T) n.3134-7G>T c.*223-7G>T (n.*223-7G>T) | |
| 15 | g.48468542C>A | CA2581214156 | FBN1 | c.4460-8G>T (n.4460-8G>T) n.3134-8G>T c.*223-8G>T (n.*223-8G>T) | |
| 15 | g.48468542C= | CA2175518473 | FBN1 | c.4460-8G= (n.4460-8G=) n.3134-8G= c.*223-8G= (n.*223-8G=) | |
| 15 | g.48468542C>G | CA2581214155 | FBN1 | c.4460-8G>C (n.4460-8G>C) n.3134-8G>C c.*223-8G>C (n.*223-8G>C) | |
| 15 | g.48468542C>T | CA015110 | FBN1 | c.4460-8G>A (n.4460-8G>A) n.3134-8G>A c.*223-8G>A (n.*223-8G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468543G>A | CA053155 | FBN1 | c.4460-9C>T (n.4460-9C>T) n.3134-9C>T c.*223-9C>T (n.*223-9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468543G= | CA2175518474 | FBN1 | c.4460-9C= (n.4460-9C=) n.3134-9C= c.*223-9C= (n.*223-9C=) | |
| 15 | g.48468543G>T | CA015115 | FBN1 | c.4460-9C>A (n.4460-9C>A) n.3134-9C>A c.*223-9C>A (n.*223-9C>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468544A>C | CA2628333407 | FBN1 | c.4460-10T>G (n.4460-10T>G) n.3134-10T>G c.*223-10T>G (n.*223-10T>G) | gnomAD v4 |
| 15 | g.48468547_48468548insCACCCAACACA | CA2804071543 | FBN1 | c.4460-11_4460-10insGTTGGGTGTGT (n.4460-11_4460-10insGTTGGGTGTGT) n.3134-11_3134-10insGTTGGGTGTGT c.*223-11_*223-10insGTTGGGTGTGT (n.*223-11_*223-10insGTTGGGTGTGT) | |
| 15 | g.48468548G>A | CA2561443726 | FBN1 | c.4460-14C>T (n.4460-14C>T) n.3134-14C>T c.*223-14C>T (n.*223-14C>T) | gnomAD v4 |
| 15 | g.48468550G>A | CA2575717085 | FBN1 | c.4460-16C>T (n.4460-16C>T) n.3134-16C>T c.*223-16C>T (n.*223-16C>T) | |
| 15 | g.48468550G>T | CA2628333408 | FBN1 | c.4460-16C>A (n.4460-16C>A) n.3134-16C>A c.*223-16C>A (n.*223-16C>A) | gnomAD v4 |
| 15 | g.48468551A= | CA2175518475 | FBN1 | c.4460-17T= (n.4460-17T=) n.3134-17T= c.*223-17T= (n.*223-17T=) | |
| 15 | g.48468551A>G | CA2175518476 | FBN1 | c.4460-17T>C (n.4460-17T>C) n.3134-17T>C c.*223-17T>C (n.*223-17T>C) | dbSNP |
| 15 | g.48468552G>A | CA2628333411 | FBN1 | c.4460-18C>T (n.4460-18C>T) n.3134-18C>T c.*223-18C>T (n.*223-18C>T) | gnomAD v4 |
| 15 | g.48468553T>A | CA2581214158 | FBN1 | c.4460-19A>T (n.4460-19A>T) n.3134-19A>T c.*223-19A>T (n.*223-19A>T) | |
| 15 | g.48468553T>C | CA015100 | FBN1 | c.4460-19A>G (n.4460-19A>G) n.3134-19A>G c.*223-19A>G (n.*223-19A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468553T>G | CA2581214157 | FBN1 | c.4460-19A>C (n.4460-19A>C) n.3134-19A>C c.*223-19A>C (n.*223-19A>C) | |
| 15 | g.48468553T= | CA2175518477 | FBN1 | c.4460-19A= (n.4460-19A=) n.3134-19A= c.*223-19A= (n.*223-19A=) | |
| 15 | g.48468554A>G | CA2575717087 | FBN1 | c.4460-20T>C (n.4460-20T>C) n.3134-20T>C c.*223-20T>C (n.*223-20T>C) | gnomAD v4 |
| 15 | g.48468556T>A | CA053100 | FBN1 | c.4460-22A>T (n.4460-22A>T) n.3134-22A>T c.*223-22A>T (n.*223-22A>T) | dbSNP ExAC gnomAD v2 |
| 15 | g.48468556T>C | CA617840448 | FBN1 | c.4460-22A>G (n.4460-22A>G) n.3134-22A>G c.*223-22A>G (n.*223-22A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48468556T= | CA2175518478 | FBN1 | c.4460-22A= (n.4460-22A=) n.3134-22A= c.*223-22A= (n.*223-22A=) | |
| 15 | g.48468557G>A | CA713409617 | FBN1 | c.4460-23C>T (n.4460-23C>T) n.3134-23C>T c.*223-23C>T (n.*223-23C>T) | dbSNP |
| 15 | g.48468557G= | CA2175518479 | FBN1 | c.4460-23C= (n.4460-23C=) n.3134-23C= c.*223-23C= (n.*223-23C=) | |
| 15 | g.48468558G>A | CA617840449 | FBN1 | c.4460-24C>T (n.4460-24C>T) n.3134-24C>T c.*223-24C>T (n.*223-24C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468558G>C | CA2628333416 | FBN1 | c.4460-24C>G (n.4460-24C>G) n.3134-24C>G c.*223-24C>G (n.*223-24C>G) | gnomAD v4 |
| 15 | g.48468558G= | CA2175518480 | FBN1 | c.4460-24C= (n.4460-24C=) n.3134-24C= c.*223-24C= (n.*223-24C=) | |
| 15 | g.48468558_48468562del | CA2628333413 | FBN1 | c.4460-28_4460-24del (n.4460-28_4460-24del) n.3134-28_3134-24del c.*223-28_*223-24del (n.*223-28_*223-24del) | gnomAD v4 |
| 15 | g.48468559A= | CA2175518481 | FBN1 | c.4460-25T= (n.4460-25T=) n.3134-25T= c.*223-25T= (n.*223-25T=) | |
| 15 | g.48468559A>T | CA053112 | FBN1 | c.4460-25T>A (n.4460-25T>A) n.3134-25T>A c.*223-25T>A (n.*223-25T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48468561T>C | CA2628333417 | FBN1 | c.4460-27A>G (n.4460-27A>G) n.3134-27A>G c.*223-27A>G (n.*223-27A>G) | gnomAD v4 |
| 15 | g.48468562T>A | CA617840450 | FBN1 | c.4460-28A>T (n.4460-28A>T) n.3134-28A>T c.*223-28A>T (n.*223-28A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48468562T= | CA2175518482 | FBN1 | c.4460-28A= (n.4460-28A=) n.3134-28A= c.*223-28A= (n.*223-28A=) | |
| 15 | g.48468568C>T | CA2575717088 | FBN1 | c.4460-34G>A (n.4460-34G>A) n.3134-34G>A c.*223-34G>A (n.*223-34G>A) | gnomAD v4 |
| 15 | g.48468569T>C | CA2804071546 | FBN1 | c.4460-35A>G (n.4460-35A>G) n.3134-35A>G c.*223-35A>G (n.*223-35A>G) | |
| 15 | g.48468569T>G | CA053119 | FBN1 | c.4460-35A>C (n.4460-35A>C) n.3134-35A>C c.*223-35A>C (n.*223-35A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468569T= | CA2175518483 | FBN1 | c.4460-35A= (n.4460-35A=) n.3134-35A= c.*223-35A= (n.*223-35A=) | |
| 15 | g.48468570G>T | CA2628333419 | FBN1 | c.4460-36C>A (n.4460-36C>A) n.3134-36C>A c.*223-36C>A (n.*223-36C>A) | gnomAD v4 |