| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48503854_48503872del | CA1139532474 | FBN1 | c.2034_2052del (p.Thr679AlafsTer?) n.708_726del c.637-29216_637-29198del (n.637-29216_637-29198del) | ClinVar |
| 15 | g.48503872A>C | CA490024199 | FBN1 | c.2028T>G (p.Gly676=) n.702T>G c.637-29222T>G (n.637-29222T>G) | |
| 15 | g.48503872A>G | CA490024200 | FBN1 | c.2028T>C (p.Gly676=) n.702T>C c.637-29222T>C (n.637-29222T>C) | |
| 15 | g.48503872A>T | CA490024201 | FBN1 | c.2028T>A (p.Gly676=) n.702T>A c.637-29222T>A (n.637-29222T>A) | |
| 15 | g.48503873C>A | CA392338461 | FBN1 | c.2027G>T (p.Gly676Val) n.701G>T c.637-29223G>T (n.637-29223G>T) | |
| 15 | g.48503873C= | CA2175526617 | FBN1 | c.2027G= (p.Gly676=) n.701G= c.637-29223G= (n.637-29223G=) | |
| 15 | g.48503873C>G | CA046605 | FBN1 | c.2027G>C (p.Gly676Ala) n.701G>C c.637-29223G>C (n.637-29223G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48503873C>T | CA392338458 | FBN1 | c.2027G>A (p.Gly676Asp) n.701G>A c.637-29223G>A (n.637-29223G>A) | |
| 15 | g.48503873_48503877delinsCCAAA | CA2175526619 | FBN1 | c.2023_2027delinsTTTGG (p.Phe675=) n.697_701delinsTTTGG c.637-29227_637-29223delinsTTTGG (n.637-29227_637-29223delinsTTTGG) | |
| 15 | g.48503874C>A | CA392338463 | FBN1 | c.2026G>T (p.Gly676Cys) n.700G>T c.637-29224G>T (n.637-29224G>T) | ClinVar dbSNP |
| 15 | g.48503874C>G | CA392338465 | FBN1 | c.2026G>C (p.Gly676Arg) n.700G>C c.637-29224G>C (n.637-29224G>C) | |
| 15 | g.48503874C>T | CA392338467 | FBN1 | c.2026G>A (p.Gly676Ser) n.700G>A c.637-29224G>A (n.637-29224G>A) | |
| 15 | g.48503878_48503881del | CA10603348 | FBN1 | c.2023_2026del (p.Phe675ValfsTer?) n.697_700del c.637-29227_637-29224del (n.637-29227_637-29224del) | ClinVar dbSNP |
| 15 | g.48503875A>C | CA392338470 | FBN1 | c.2025T>G (p.Phe675Leu) n.699T>G c.637-29225T>G (n.637-29225T>G) | |
| 15 | g.48503875A>G | CA490024202 | FBN1 | c.2025T>C (p.Phe675=) n.699T>C c.637-29225T>C (n.637-29225T>C) | |
| 15 | g.48503875A>T | CA392338472 | FBN1 | c.2025T>A (p.Phe675Leu) n.699T>A c.637-29225T>A (n.637-29225T>A) | |
| 15 | g.48503876A>C | CA392338474 | FBN1 | c.2024T>G (p.Phe675Cys) n.698T>G c.637-29226T>G (n.637-29226T>G) | |
| 15 | g.48503876A>G | CA392338478 | FBN1 | c.2024T>C (p.Phe675Ser) n.698T>C c.637-29226T>C (n.637-29226T>C) | |
| 15 | g.48503876A>T | CA392338476 | FBN1 | c.2024T>A (p.Phe675Tyr) n.698T>A c.637-29226T>A (n.637-29226T>A) | |
| 15 | g.48503877A>C | CA392338479 | FBN1 | c.2023T>G (p.Phe675Val) n.697T>G c.637-29227T>G (n.637-29227T>G) | |
| 15 | g.48503877A>G | CA392338481 | FBN1 | c.2023T>C (p.Phe675Leu) n.697T>C c.637-29227T>C (n.637-29227T>C) | |
| 15 | g.48503877A>T | CA392338483 | FBN1 | c.2023T>A (p.Phe675Ile) n.697T>A c.637-29227T>A (n.637-29227T>A) | |
| 15 | g.48503878C>A | CA392338485 | FBN1 | c.2022G>T (p.Leu674Phe) n.696G>T c.637-29228G>T (n.637-29228G>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48503878C= | CA2175526627 | FBN1 | c.2022G= (p.Leu674=) n.696G= c.637-29228G= (n.637-29228G=) | |
| 15 | g.48503878C>G | CA012711 | FBN1 | c.2022G>C (p.Leu674Phe) n.696G>C c.637-29228G>C (n.637-29228G>C) | ClinVar dbSNP |
| 15 | g.48503878C>T | CA490024206 | FBN1 | c.2022G>A (p.Leu674=) n.696G>A c.637-29228G>A (n.637-29228G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48503879A= | CA2175526631 | FBN1 | c.2021T= (p.Leu674=) n.695T= c.637-29229T= (n.637-29229T=) | |
| 15 | g.48503879A>C | CA392338492 | FBN1 | c.2021T>G (p.Leu674Trp) n.695T>G c.637-29229T>G (n.637-29229T>G) | |
| 15 | g.48503879A>G | CA392338496 | FBN1 | c.2021T>C (p.Leu674Ser) n.695T>C c.637-29229T>C (n.637-29229T>C) | dbSNP |
| 15 | g.48503879A>T | CA392338505 | FBN1 | c.2021T>A (p.Leu674Ter) n.695T>A c.637-29229T>A (n.637-29229T>A) | |
| 15 | g.48503881del | CA2580089581 | FBN1 | c.2021del (p.Leu674CysfsTer?) n.695del c.637-29229del (n.637-29229del) | ClinVar |
| 15 | g.48503880A= | CA2175526637 | FBN1 | c.2020T= (p.Leu674=) n.694T= c.637-29230T= (n.637-29230T=) | |
| 15 | g.48503880A>C | CA392338511 | FBN1 | c.2020T>G (p.Leu674Val) n.694T>G c.637-29230T>G (n.637-29230T>G) | |
| 15 | g.48503880A>G | CA046592 | FBN1 | c.2020T>C (p.Leu674=) n.694T>C c.637-29230T>C (n.637-29230T>C) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.48503880A>T | CA392338515 | FBN1 | c.2020T>A (p.Leu674Met) n.694T>A c.637-29230T>A (n.637-29230T>A) | |
| 15 | g.48503881A>C | CA490024215 | FBN1 | c.2019T>G (p.Pro673=) n.693T>G c.637-29231T>G (n.637-29231T>G) | |
| 15 | g.48503881A>G | CA490024218 | FBN1 | c.2019T>C (p.Pro673=) n.693T>C c.637-29231T>C (n.637-29231T>C) | |
| 15 | g.48503881A>T | CA490024220 | FBN1 | c.2019T>A (p.Pro673=) n.693T>A c.637-29231T>A (n.637-29231T>A) | |
| 15 | g.48503882G>A | CA392338519 | FBN1 | c.2018C>T (p.Pro673Leu) n.692C>T c.637-29232C>T (n.637-29232C>T) | |
| 15 | g.48503882G>C | CA392338524 | FBN1 | c.2018C>G (p.Pro673Arg) n.692C>G c.637-29232C>G (n.637-29232C>G) | |
| 15 | g.48503882G>T | CA392338522 | FBN1 | c.2018C>A (p.Pro673His) n.692C>A c.637-29232C>A (n.637-29232C>A) | |
| 15 | g.48503882_48503891delinsAGCACCAA | CA2580089583 | FBN1 | c.2009_2018delinsTTGGTGCT (p.Cys670PhefsTer10) n.683_692delinsTTGGTGCT c.637-29241_637-29232delinsTTGGTGCT (n.637-29241_637-29232delinsTTGGTGCT) | ClinVar |
| 15 | g.48503883G>A | CA269549034 | FBN1 | c.2017C>T (p.Pro673Ser) n.691C>T c.637-29233C>T (n.637-29233C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48503883G>C | CA392338532 | FBN1 | c.2017C>G (p.Pro673Ala) n.691C>G c.637-29233C>G (n.637-29233C>G) | |
| 15 | g.48503883G= | CA2175526644 | FBN1 | c.2017C= (p.Pro673=) n.691C= c.637-29233C= (n.637-29233C=) | |
| 15 | g.48503883G>T | CA392338528 | FBN1 | c.2017C>A (p.Pro673Thr) n.691C>A c.637-29233C>A (n.637-29233C>A) | |
| 15 | g.48503884T>A | CA392338535 | FBN1 | c.2016A>T (p.Lys672Asn) n.690A>T c.637-29234A>T (n.637-29234A>T) | COSMIC |
| 15 | g.48503884T>C | CA490024235 | FBN1 | c.2016A>G (p.Lys672=) n.690A>G c.637-29234A>G (n.637-29234A>G) | |
| 15 | g.48503884T>G | CA392338538 | FBN1 | c.2016A>C (p.Lys672Asn) n.690A>C c.637-29234A>C (n.637-29234A>C) | |
| 15 | g.48503885T>A | CA392338543 | FBN1 | c.2015A>T (p.Lys672Ile) n.689A>T c.637-29235A>T (n.637-29235A>T) |