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.48468442C>A | CA392353416 | FBN1 | c.4552G>T (p.Glu1518Ter) n.3226G>T c.*315G>T (n.*315G>T) | |
| 15 | g.48468442C>G | CA392353418 | FBN1 | c.4552G>C (p.Glu1518Gln) n.3226G>C c.*315G>C (n.*315G>C) | |
| 15 | g.48468442C>T | CA392353420 | FBN1 | c.4552G>A (p.Glu1518Lys) n.3226G>A c.*315G>A (n.*315G>A) | |
| 15 | g.48468442_48468443delinsCA | CA2175518421 | FBN1 | c.4551_4552delinsTG (p.Phe1517=) n.3225_3226delinsTG c.*314_*315delinsTG (n.*314_*315delinsTG) | |
| 15 | g.48468443A>C | CA392353423 | FBN1 | c.4551T>G (p.Phe1517Leu) n.3225T>G c.*314T>G (n.*314T>G) | |
| 15 | g.48468443A>G | CA490027416 | FBN1 | c.4551T>C (p.Phe1517=) n.3225T>C c.*314T>C (n.*314T>C) | |
| 15 | g.48468443A>T | CA392353424 | FBN1 | c.4551T>A (p.Phe1517Leu) n.3225T>A c.*314T>A (n.*314T>A) | gnomAD v4 |
| 15 | g.48468446del | CA658683897 | FBN1 | c.4551del (p.Phe1517LeufsTer3) n.3225del c.*314del (n.*314del) | ClinVar dbSNP |
| 15 | g.48468444A= | CA2175518422 | FBN1 | c.4550T= (p.Phe1517=) n.3224T= c.*313T= (n.*313T=) | |
| 15 | g.48468444A>C | CA392353426 | FBN1 | c.4550T>G (p.Phe1517Cys) n.3224T>G c.*313T>G (n.*313T>G) | |
| 15 | g.48468444A>G | CA392353429 | FBN1 | c.4550T>C (p.Phe1517Ser) n.3224T>C c.*313T>C (n.*313T>C) | ClinVar dbSNP |
| 15 | g.48468444A>T | CA392353430 | FBN1 | c.4550T>A (p.Phe1517Tyr) n.3224T>A c.*313T>A (n.*313T>A) | |
| 15 | g.48468445A>C | CA392353432 | FBN1 | c.4549T>G (p.Phe1517Val) n.3223T>G c.*312T>G (n.*312T>G) | |
| 15 | g.48468445A>G | CA392353433 | FBN1 | c.4549T>C (p.Phe1517Leu) n.3223T>C c.*312T>C (n.*312T>C) | |
| 15 | g.48468445A>T | CA392353434 | FBN1 | c.4549T>A (p.Phe1517Ile) n.3223T>A c.*312T>A (n.*312T>A) | ClinVar |
| 15 | g.48468446A= | CA2175518423 | FBN1 | c.4548T= (p.Asp1516=) n.3222T= c.*311T= (n.*311T=) | |
| 15 | g.48468446A>C | CA392353435 | FBN1 | c.4548T>G (p.Asp1516Glu) n.3222T>G c.*311T>G (n.*311T>G) | ClinVar dbSNP |
| 15 | g.48468446A>G | CA490027428 | FBN1 | c.4548T>C (p.Asp1516=) n.3222T>C c.*311T>C (n.*311T>C) | |
| 15 | g.48468446A>T | CA392353437 | FBN1 | c.4548T>A (p.Asp1516Glu) n.3222T>A c.*311T>A (n.*311T>A) | |
| 15 | g.48468447T>A | CA392353441 | FBN1 | c.4547A>T (p.Asp1516Val) n.3221A>T c.*310A>T (n.*310A>T) | |
| 15 | g.48468447T>C | CA392353442 | FBN1 | c.4547A>G (p.Asp1516Gly) n.3221A>G c.*310A>G (n.*310A>G) | |
| 15 | g.48468447T>G | CA392353439 | FBN1 | c.4547A>C (p.Asp1516Ala) n.3221A>C c.*310A>C (n.*310A>C) | |
| 15 | g.48468448C>A | CA392353451 | FBN1 | c.4546G>T (p.Asp1516Tyr) n.3220G>T c.*309G>T (n.*309G>T) | |
| 15 | g.48468448C>G | CA392353446 | FBN1 | c.4546G>C (p.Asp1516His) n.3220G>C c.*309G>C (n.*309G>C) | |
| 15 | g.48468448C>T | CA392353448 | FBN1 | c.4546G>A (p.Asp1516Asn) n.3220G>A c.*309G>A (n.*309G>A) | |
| 15 | g.48468448_48468450delinsATCT | CA2695220599 | FBN1 | c.4544_4546delinsAGAT (p.Pro1515GlnfsTer4) n.3218_3220delinsAGAT c.*307_*309delinsAGAT (n.*307_*309delinsAGAT) | ClinVar |
| 15 | g.48468449A>C | CA490027433 | FBN1 | c.4545T>G (p.Pro1515=) n.3219T>G c.*308T>G (n.*308T>G) | |
| 15 | g.48468449A>G | CA490027434 | FBN1 | c.4545T>C (p.Pro1515=) n.3219T>C c.*308T>C (n.*308T>C) | |
| 15 | g.48468449A>T | CA490027436 | FBN1 | c.4545T>A (p.Pro1515=) n.3219T>A c.*308T>A (n.*308T>A) | |
| 15 | g.48468450G>A | CA392353453 | FBN1 | c.4544C>T (p.Pro1515Leu) n.3218C>T c.*307C>T (n.*307C>T) | |
| 15 | g.48468450G>C | CA053229 | FBN1 | c.4544C>G (p.Pro1515Arg) n.3218C>G c.*307C>G (n.*307C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48468450G= | CA2175518424 | FBN1 | c.4544C= (p.Pro1515=) n.3218C= c.*307C= (n.*307C=) | |
| 15 | g.48468450G>T | CA392353457 | FBN1 | c.4544C>A (p.Pro1515His) n.3218C>A c.*307C>A (n.*307C>A) | |
| 15 | g.48468451G>A | CA392353458 | FBN1 | c.4543C>T (p.Pro1515Ser) n.3217C>T c.*306C>T (n.*306C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48468451G>C | CA392353459 | FBN1 | c.4543C>G (p.Pro1515Ala) n.3217C>G c.*306C>G (n.*306C>G) | |
| 15 | g.48468451G= | CA2175518425 | FBN1 | c.4543C= (p.Pro1515=) n.3217C= c.*306C= (n.*306C=) | |
| 15 | g.48468451G>T | CA392353461 | FBN1 | c.4543C>A (p.Pro1515Thr) n.3217C>A c.*306C>A (n.*306C>A) | |
| 15 | g.48468452T>A | CA490027444 | FBN1 | c.4542A>T (p.Pro1514=) n.3216A>T c.*305A>T (n.*305A>T) | |
| 15 | g.48468452T>C | CA490027448 | FBN1 | c.4542A>G (p.Pro1514=) n.3216A>G c.*305A>G (n.*305A>G) | |
| 15 | g.48468452T>G | CA490027445 | FBN1 | c.4542A>C (p.Pro1514=) n.3216A>C c.*305A>C (n.*305A>C) | |
| 15 | g.48468453G>A | CA053215 | FBN1 | c.4541C>T (p.Pro1514Leu) n.3215C>T c.*304C>T (n.*304C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48468453G>C | CA392353467 | FBN1 | c.4541C>G (p.Pro1514Arg) n.3215C>G c.*304C>G (n.*304C>G) | |
| 15 | g.48468453G= | CA2175518426 | FBN1 | c.4541C= (p.Pro1514=) n.3215C= c.*304C= (n.*304C=) | |
| 15 | g.48468453G>T | CA392353464 | FBN1 | c.4541C>A (p.Pro1514Gln) n.3215C>A c.*304C>A (n.*304C>A) | |
| 15 | g.48468454G>A | CA392353469 | FBN1 | c.4540C>T (p.Pro1514Ser) n.3214C>T c.*303C>T (n.*303C>T) | |
| 15 | g.48468454G>C | CA392353471 | FBN1 | c.4540C>G (p.Pro1514Ala) n.3214C>G c.*303C>G (n.*303C>G) | dbSNP |
| 15 | g.48468454G= | CA2175518427 | FBN1 | c.4540C= (p.Pro1514=) n.3214C= c.*303C= (n.*303C=) | |
| 15 | g.48468454G>T | CA392353473 | FBN1 | c.4540C>A (p.Pro1514Thr) n.3214C>A c.*303C>A (n.*303C>A) | |
| 15 | g.48468455G>A | CA490027456 | FBN1 | c.4539C>T (p.Cys1513=) n.3213C>T c.*302C>T (n.*302C>T) | gnomAD v4 |
| 15 | g.48468455G>C | CA392353476 | FBN1 | c.4539C>G (p.Cys1513Trp) n.3213C>G c.*302C>G (n.*302C>G) | ClinVar dbSNP |