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.48510048_48510057del | CA2695220319 | FBN1 | c.1705_1714del (p.Asn569IlefsTer7) n.379_388del c.636+27658_636+27667del (n.636+27658_636+27667del) | |
| 15 | g.48510048_48510062del | CA2695220320 | FBN1 | c.1698_1712del (p.Asp566_Cys570del) n.372_386del c.636+27651_636+27665del (n.636+27651_636+27665del) | |
| 15 | g.48510048_48510049delinsAC | CA2175529859 | FBN1 | c.1709_1710delinsGT (p.Cys570=) n.383_384delinsGT c.636+27662_636+27663delinsGT (n.636+27662_636+27663delinsGT) | |
| 15 | g.48510049del | CA012482 | FBN1 | c.1709del (p.Cys570LeufsTer9) n.383del c.636+27662del (n.636+27662del) | ClinVar dbSNP |
| 15 | g.48510049C>A | CA392340921 | FBN1 | c.1709G>T (p.Cys570Phe) n.383G>T c.636+27662G>T (n.636+27662G>T) | |
| 15 | g.48510049C= | CA2175529861 | FBN1 | c.1709G= (p.Cys570=) n.383G= c.636+27662G= (n.636+27662G=) | |
| 15 | g.48510049C>G | CA392340924 | FBN1 | c.1709G>C (p.Cys570Ser) n.383G>C c.636+27662G>C (n.636+27662G>C) | ClinVar dbSNP |
| 15 | g.48510049C>T | CA392340926 | FBN1 | c.1709G>A (p.Cys570Tyr) n.383G>A c.636+27662G>A (n.636+27662G>A) | ClinVar dbSNP |
| 15 | g.48510050A= | CA2175529862 | FBN1 | c.1708T= (p.Cys570=) n.382T= c.636+27661T= (n.636+27661T=) | |
| 15 | g.48510050A>C | CA392340930 | FBN1 | c.1708T>G (p.Cys570Gly) n.382T>G c.636+27661T>G (n.636+27661T>G) | |
| 15 | g.48510050A>G | CA269554328 | FBN1 | c.1708T>C (p.Cys570Arg) n.382T>C c.636+27661T>C (n.636+27661T>C) | ClinVar dbSNP |
| 15 | g.48510050A>T | CA392340933 | FBN1 | c.1708T>A (p.Cys570Ser) n.382T>A c.636+27661T>A (n.636+27661T>A) | ClinVar |
| 15 | g.48510051G>A | CA490027220 | FBN1 | c.1707C>T (p.Asn569=) n.381C>T c.636+27660C>T (n.636+27660C>T) | |
| 15 | g.48510051G>C | CA392340934 | FBN1 | c.1707C>G (p.Asn569Lys) n.381C>G c.636+27660C>G (n.636+27660C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48510051G= | CA2175529863 | FBN1 | c.1707C= (p.Asn569=) n.381C= c.636+27660C= (n.636+27660C=) | |
| 15 | g.48510051G>T | CA392340935 | FBN1 | c.1707C>A (p.Asn569Lys) n.381C>A c.636+27660C>A (n.636+27660C>A) | |
| 15 | g.48510052T>A | CA392340936 | FBN1 | c.1706A>T (p.Asn569Ile) n.380A>T c.636+27659A>T (n.636+27659A>T) | |
| 15 | g.48510052T>C | CA392340937 | FBN1 | c.1706A>G (p.Asn569Ser) n.380A>G c.636+27659A>G (n.636+27659A>G) | |
| 15 | g.48510052T>G | CA392340938 | FBN1 | c.1706A>C (p.Asn569Thr) n.380A>C c.636+27659A>C (n.636+27659A>C) | |
| 15 | g.48510053T>A | CA392340939 | FBN1 | c.1705A>T (p.Asn569Tyr) n.379A>T c.636+27658A>T (n.636+27658A>T) | |
| 15 | g.48510053T>C | CA392340941 | FBN1 | c.1705A>G (p.Asn569Asp) n.379A>G c.636+27658A>G (n.636+27658A>G) | |
| 15 | g.48510053T>G | CA392340940 | FBN1 | c.1705A>C (p.Asn569His) n.379A>C c.636+27658A>C (n.636+27658A>C) | |
| 15 | g.48510054C>A | CA392340942 | FBN1 | c.1704G>T (p.Lys568Asn) n.378G>T c.636+27657G>T (n.636+27657G>T) | dbSNP |
| 15 | g.48510054C= | CA2175529864 | FBN1 | c.1704G= (p.Lys568=) n.378G= c.636+27657G= (n.636+27657G=) | |
| 15 | g.48510054C>G | CA392340943 | FBN1 | c.1704G>C (p.Lys568Asn) n.378G>C c.636+27657G>C (n.636+27657G>C) | gnomAD v4 |
| 15 | g.48510054C>T | CA490027221 | FBN1 | c.1704G>A (p.Lys568=) n.378G>A c.636+27657G>A (n.636+27657G>A) | |
| 15 | g.48510055T>A | CA392340944 | FBN1 | c.1703A>T (p.Lys568Met) n.377A>T c.636+27656A>T (n.636+27656A>T) | |
| 15 | g.48510055T>C | CA392340945 | FBN1 | c.1703A>G (p.Lys568Arg) n.377A>G c.636+27656A>G (n.636+27656A>G) | |
| 15 | g.48510055T>G | CA392340946 | FBN1 | c.1703A>C (p.Lys568Thr) n.377A>C c.636+27656A>C (n.636+27656A>C) | |
| 15 | g.48510056T>A | CA392340947 | FBN1 | c.1702A>T (p.Lys568Ter) n.376A>T c.636+27655A>T (n.636+27655A>T) | |
| 15 | g.48510056T>C | CA392340948 | FBN1 | c.1702A>G (p.Lys568Glu) n.376A>G c.636+27655A>G (n.636+27655A>G) | |
| 15 | g.48510056T>G | CA392340949 | FBN1 | c.1702A>C (p.Lys568Gln) n.376A>C c.636+27655A>C (n.636+27655A>C) | |
| 15 | g.48510057C>A | CA490027222 | FBN1 | c.1701G>T (p.Gly567=) n.375G>T c.636+27654G>T (n.636+27654G>T) | |
| 15 | g.48510057C>G | CA490027224 | FBN1 | c.1701G>C (p.Gly567=) n.375G>C c.636+27654G>C (n.636+27654G>C) | |
| 15 | g.48510057C>T | CA490027223 | FBN1 | c.1701G>A (p.Gly567=) n.375G>A c.636+27654G>A (n.636+27654G>A) | |
| 15 | g.48510058C>A | CA392340950 | FBN1 | c.1700G>T (p.Gly567Val) n.374G>T c.636+27653G>T (n.636+27653G>T) | |
| 15 | g.48510058C= | CA2175529865 | FBN1 | c.1700G= (p.Gly567=) n.374G= c.636+27653G= (n.636+27653G=) | |
| 15 | g.48510058C>G | CA392340951 | FBN1 | c.1700G>C (p.Gly567Ala) n.374G>C c.636+27653G>C (n.636+27653G>C) | |
| 15 | g.48510058C>T | CA269554333 | FBN1 | c.1700G>A (p.Gly567Glu) n.374G>A c.636+27653G>A (n.636+27653G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48510059C>A | CA392340953 | FBN1 | c.1699G>T (p.Gly567Trp) n.373G>T c.636+27652G>T (n.636+27652G>T) | COSMIC |
| 15 | g.48510059C>G | CA392340954 | FBN1 | c.1699G>C (p.Gly567Arg) n.373G>C c.636+27652G>C (n.636+27652G>C) | |
| 15 | g.48510059C>T | CA392340952 | FBN1 | c.1699G>A (p.Gly567Arg) n.373G>A c.636+27652G>A (n.636+27652G>A) | |
| 15 | g.48510060A>C | CA392340955 | FBN1 | c.1698T>G (p.Asp566Glu) n.372T>G c.636+27651T>G (n.636+27651T>G) | |
| 15 | g.48510060A>G | CA490027230 | FBN1 | c.1698T>C (p.Asp566=) n.372T>C c.636+27651T>C (n.636+27651T>C) | |
| 15 | g.48510060A>T | CA392340956 | FBN1 | c.1698T>A (p.Asp566Glu) n.372T>A c.636+27651T>A (n.636+27651T>A) | |
| 15 | g.48510061T>A | CA392340957 | FBN1 | c.1697A>T (p.Asp566Val) n.371A>T c.636+27650A>T (n.636+27650A>T) | |
| 15 | g.48510061T>C | CA392340958 | FBN1 | c.1697A>G (p.Asp566Gly) n.371A>G c.636+27650A>G (n.636+27650A>G) | ClinVar dbSNP gnomAD v2 |
| 15 | g.48510061T>G | CA392340959 | FBN1 | c.1697A>C (p.Asp566Ala) n.371A>C c.636+27650A>C (n.636+27650A>C) | |
| 15 | g.48510061T= | CA2175529866 | FBN1 | c.1697A= (p.Asp566=) n.371A= c.636+27650A= (n.636+27650A=) | |
| 15 | g.48510062C>A | CA392340960 | FBN1 | c.1696G>T (p.Asp566Tyr) n.370G>T c.636+27649G>T (n.636+27649G>T) |