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.48510123_48510134delinsGCGTCCATTATT | CA2175529894 | FBN1 | c.1624_1635delinsAATAATGGACGC (p.Asn542=) n.298_309delinsAATAATGGACGC c.636+27577_636+27588delinsAATAATGGACGC (n.636+27577_636+27588delinsAATAATGGACGC) | |
| 15 | g.48510124C>A | CA392341211 | FBN1 | c.1634G>T (p.Arg545Leu) n.308G>T c.636+27587G>T (n.636+27587G>T) | dbSNP gnomAD v4 COSMIC |
| 15 | g.48510124C= | CA2175529896 | FBN1 | c.1634G= (p.Arg545=) n.308G= c.636+27587G= (n.636+27587G=) | |
| 15 | g.48510124C>G | CA392341212 | FBN1 | c.1634G>C (p.Arg545Pro) n.308G>C c.636+27587G>C (n.636+27587G>C) | ClinVar dbSNP |
| 15 | g.48510124C>T | CA012355 | FBN1 | c.1634G>A (p.Arg545His) n.308G>A c.636+27587G>A (n.636+27587G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48510124_48510134del | CA012323 | FBN1 | c.1624_1634del (p.Asn542LeufsTer13) n.298_308del c.636+27577_636+27587del (n.636+27577_636+27587del) | ClinVar dbSNP |
| 15 | g.48510125G>A | CA012342 | FBN1 | c.1633C>T (p.Arg545Cys) n.307C>T c.636+27586C>T (n.636+27586C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48510125G>C | CA392341214 | FBN1 | c.1633C>G (p.Arg545Gly) n.307C>G c.636+27586C>G (n.636+27586C>G) | |
| 15 | g.48510125G= | CA2175529897 | FBN1 | c.1633C= (p.Arg545=) n.307C= c.636+27586C= (n.636+27586C=) | |
| 15 | g.48510125G>T | CA392341216 | FBN1 | c.1633C>A (p.Arg545Ser) n.307C>A c.636+27586C>A (n.636+27586C>A) | |
| 15 | g.48510125_48510129del | CA2695220343 | FBN1 | c.1629_1633del (p.Asn543LysfsTer14) n.303_307del c.636+27582_636+27586del (n.636+27582_636+27586del) | |
| 15 | g.48510126T>A | CA490027521 | FBN1 | c.1632A>T (p.Gly544=) n.306A>T c.636+27585A>T (n.636+27585A>T) | |
| 15 | g.48510126T>C | CA490027522 | FBN1 | c.1632A>G (p.Gly544=) n.306A>G c.636+27585A>G (n.636+27585A>G) | |
| 15 | g.48510126T>G | CA490027525 | FBN1 | c.1632A>C (p.Gly544=) n.306A>C c.636+27585A>C (n.636+27585A>C) | |
| 15 | g.48510127C>A | CA392341219 | FBN1 | c.1631G>T (p.Gly544Val) n.305G>T c.636+27584G>T (n.636+27584G>T) | |
| 15 | g.48510127C>G | CA392341221 | FBN1 | c.1631G>C (p.Gly544Ala) n.305G>C c.636+27584G>C (n.636+27584G>C) | |
| 15 | g.48510127C>T | CA392341222 | FBN1 | c.1631G>A (p.Gly544Glu) n.305G>A c.636+27584G>A (n.636+27584G>A) | |
| 15 | g.48510128C>A | CA392341225 | FBN1 | c.1630G>T (p.Gly544Ter) n.304G>T c.636+27583G>T (n.636+27583G>T) | |
| 15 | g.48510128C= | CA2175529898 | FBN1 | c.1630G= (p.Gly544=) n.304G= c.636+27583G= (n.636+27583G=) | |
| 15 | g.48510128C>G | CA392341227 | FBN1 | c.1630G>C (p.Gly544Arg) n.304G>C c.636+27583G>C (n.636+27583G>C) | ClinVar dbSNP |
| 15 | g.48510128C>T | CA392341228 | FBN1 | c.1630G>A (p.Gly544Arg) n.304G>A c.636+27583G>A (n.636+27583G>A) | ClinVar dbSNP |
| 15 | g.48510129A>C | CA392341230 | FBN1 | c.1629T>G (p.Asn543Lys) n.303T>G c.636+27582T>G (n.636+27582T>G) | |
| 15 | g.48510129A>G | CA490027533 | FBN1 | c.1629T>C (p.Asn543=) n.303T>C c.636+27582T>C (n.636+27582T>C) | |
| 15 | g.48510129A>T | CA392341232 | FBN1 | c.1629T>A (p.Asn543Lys) n.303T>A c.636+27582T>A (n.636+27582T>A) | |
| 15 | g.48510130T>A | CA16614670 | FBN1 | c.1628A>T (p.Asn543Ile) n.302A>T c.636+27581A>T (n.636+27581A>T) | ClinVar dbSNP |
| 15 | g.48510130T>C | CA392341235 | FBN1 | c.1628A>G (p.Asn543Ser) n.302A>G c.636+27581A>G (n.636+27581A>G) | |
| 15 | g.48510130T>G | CA392341237 | FBN1 | c.1628A>C (p.Asn543Thr) n.302A>C c.636+27581A>C (n.636+27581A>C) | |
| 15 | g.48510130T= | CA2175529899 | FBN1 | c.1628A= (p.Asn543=) n.302A= c.636+27581A= (n.636+27581A=) | |
| 15 | g.48510131T>A | CA392341239 | FBN1 | c.1627A>T (p.Asn543Tyr) n.301A>T c.636+27580A>T (n.636+27580A>T) | |
| 15 | g.48510131T>C | CA392341241 | FBN1 | c.1627A>G (p.Asn543Asp) n.301A>G c.636+27580A>G (n.636+27580A>G) | gnomAD v4 |
| 15 | g.48510131T>G | CA392341243 | FBN1 | c.1627A>C (p.Asn543His) n.301A>C c.636+27580A>C (n.636+27580A>C) | |
| 15 | g.48510132A>C | CA392341245 | FBN1 | c.1626T>G (p.Asn542Lys) n.300T>G c.636+27579T>G (n.636+27579T>G) | |
| 15 | g.48510132A>G | CA490027540 | FBN1 | c.1626T>C (p.Asn542=) n.300T>C c.636+27579T>C (n.636+27579T>C) | |
| 15 | g.48510132A>T | CA392341247 | FBN1 | c.1626T>A (p.Asn542Lys) n.300T>A c.636+27579T>A (n.636+27579T>A) | |
| 15 | g.48510133T>A | CA392341249 | FBN1 | c.1625A>T (p.Asn542Ile) n.299A>T c.636+27578A>T (n.636+27578A>T) | |
| 15 | g.48510133T>C | CA269554436 | FBN1 | c.1625A>G (p.Asn542Ser) n.299A>G c.636+27578A>G (n.636+27578A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48510133T>G | CA392341253 | FBN1 | c.1625A>C (p.Asn542Thr) n.299A>C c.636+27578A>C (n.636+27578A>C) | |
| 15 | g.48510133T= | CA2175529900 | FBN1 | c.1625A= (p.Asn542=) n.299A= c.636+27578A= (n.636+27578A=) | |
| 15 | g.48510134T>A | CA392341255 | FBN1 | c.1624A>T (p.Asn542Tyr) n.298A>T c.636+27577A>T (n.636+27577A>T) | |
| 15 | g.48510134T>C | CA392341257 | FBN1 | c.1624A>G (p.Asn542Asp) n.298A>G c.636+27577A>G (n.636+27577A>G) | dbSNP |
| 15 | g.48510134T>G | CA392341259 | FBN1 | c.1624A>C (p.Asn542His) n.298A>C c.636+27577A>C (n.636+27577A>C) | ClinVar dbSNP |
| 15 | g.48510134T= | CA2175529901 | FBN1 | c.1624A= (p.Asn542=) n.298A= c.636+27577A= (n.636+27577A=) | |
| 15 | g.48510135G>A | CA490027547 | FBN1 | c.1623C>T (p.Cys541=) n.297C>T c.636+27576C>T (n.636+27576C>T) | |
| 15 | g.48510135G>C | CA392341261 | FBN1 | c.1623C>G (p.Cys541Trp) n.297C>G c.636+27576C>G (n.636+27576C>G) | |
| 15 | g.48510135G>T | CA392341262 | FBN1 | c.1623C>A (p.Cys541Ter) n.297C>A c.636+27576C>A (n.636+27576C>A) | |
| 15 | g.48510136C>A | CA392341265 | FBN1 | c.1622G>T (p.Cys541Phe) n.296G>T c.636+27575G>T (n.636+27575G>T) | ClinVar dbSNP |
| 15 | g.48510136C= | CA2175529902 | FBN1 | c.1622G= (p.Cys541=) n.296G= c.636+27575G= (n.636+27575G=) | |
| 15 | g.48510136C>G | CA392341266 | FBN1 | c.1622G>C (p.Cys541Ser) n.296G>C c.636+27575G>C (n.636+27575G>C) | |
| 15 | g.48510136C>T | CA392341267 | FBN1 | c.1622G>A (p.Cys541Tyr) n.296G>A c.636+27575G>A (n.636+27575G>A) | ClinVar dbSNP |
| 15 | g.48510137A= | CA2175529903 | FBN1 | c.1621T= (p.Cys541=) n.295T= c.636+27574T= (n.636+27574T=) |