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.48510041_48510042delinsTA | CA2175529856 | FBN1 | c.1714+2_1714+3delinsTA (n.1714+2_1714+3delinsTA) n.388+2_388+3delinsTA c.636+27669_636+27670delinsTA (n.636+27669_636+27670delinsTA) | |
| 15 | g.48510042del | CA10576991 | FBN1 | c.1714+2del (n.1714+2del) n.388+2del c.636+27669del (n.636+27669del) | ClinVar dbSNP |
| 15 | g.48510042A>C | CA392340881 | FBN1 | c.1714+2T>G (n.1714+2T>G) n.388+2T>G c.636+27669T>G (n.636+27669T>G) | |
| 15 | g.48510042A>G | CA392340875 | FBN1 | c.1714+2T>C (n.1714+2T>C) n.388+2T>C c.636+27669T>C (n.636+27669T>C) | ClinVar dbSNP |
| 15 | g.48510042A>T | CA392340879 | FBN1 | c.1714+2T>A (n.1714+2T>A) n.388+2T>A c.636+27669T>A (n.636+27669T>A) | |
| 15 | g.48510043C>A | CA392340884 | FBN1 | c.1714+1G>T (n.1714+1G>T) n.388+1G>T c.636+27668G>T (n.636+27668G>T) | ClinVar dbSNP |
| 15 | g.48510043C= | CA2175529857 | FBN1 | c.1714+1G= (n.1714+1G=) n.388+1G= c.636+27668G= (n.636+27668G=) | |
| 15 | g.48510043C>G | CA392340889 | FBN1 | c.1714+1G>C (n.1714+1G>C) n.388+1G>C c.636+27668G>C (n.636+27668G>C) | |
| 15 | g.48510043C>T | CA392340890 | FBN1 | c.1714+1G>A (n.1714+1G>A) n.388+1G>A c.636+27668G>A (n.636+27668G>A) | |
| 15 | g.48510044C>A | CA392340891 | FBN1 | c.1714G>T (p.Asp572Tyr) n.388G>T c.636+27667G>T (n.636+27667G>T) | |
| 15 | g.48510044C>G | CA392340893 | FBN1 | c.1714G>C (p.Asp572His) n.388G>C c.636+27667G>C (n.636+27667G>C) | |
| 15 | g.48510044C>T | CA392340896 | FBN1 | c.1714G>A (p.Asp572Asn) n.388G>A c.636+27667G>A (n.636+27667G>A) | ClinVar dbSNP |
| 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.48510045T>A | CA392340899 | FBN1 | c.1713A>T (p.Glu571Asp) n.387A>T c.636+27666A>T (n.636+27666A>T) | |
| 15 | g.48510045T>C | CA490027218 | FBN1 | c.1713A>G (p.Glu571=) n.387A>G c.636+27666A>G (n.636+27666A>G) | ClinVar dbSNP |
| 15 | g.48510045T>G | CA392340901 | FBN1 | c.1713A>C (p.Glu571Asp) n.387A>C c.636+27666A>C (n.636+27666A>C) | |
| 15 | g.48510045T= | CA2175529858 | FBN1 | c.1713A= (p.Glu571=) n.387A= c.636+27666A= (n.636+27666A=) | |
| 15 | g.48510046T>A | CA392340903 | FBN1 | c.1712A>T (p.Glu571Val) n.386A>T c.636+27665A>T (n.636+27665A>T) | |
| 15 | g.48510046T>C | CA392340905 | FBN1 | c.1712A>G (p.Glu571Gly) n.386A>G c.636+27665A>G (n.636+27665A>G) | |
| 15 | g.48510046T>G | CA392340907 | FBN1 | c.1712A>C (p.Glu571Ala) n.386A>C c.636+27665A>C (n.636+27665A>C) | |
| 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.48510047C>A | CA392340912 | FBN1 | c.1711G>T (p.Glu571Ter) n.385G>T c.636+27664G>T (n.636+27664G>T) | |
| 15 | g.48510047C>G | CA392340914 | FBN1 | c.1711G>C (p.Glu571Gln) n.385G>C c.636+27664G>C (n.636+27664G>C) | |
| 15 | g.48510047C>T | CA392340910 | FBN1 | c.1711G>A (p.Glu571Lys) n.385G>A c.636+27664G>A (n.636+27664G>A) | |
| 15 | g.48510048A= | CA2175529860 | FBN1 | c.1710T= (p.Cys570=) n.384T= c.636+27663T= (n.636+27663T=) | |
| 15 | g.48510048A>C | CA392340918 | FBN1 | c.1710T>G (p.Cys570Trp) n.384T>G c.636+27663T>G (n.636+27663T>G) | ClinVar dbSNP |
| 15 | g.48510048A>G | CA490027219 | FBN1 | c.1710T>C (p.Cys570=) n.384T>C c.636+27663T>C (n.636+27663T>C) | |
| 15 | g.48510048A>T | CA012495 | FBN1 | c.1710T>A (p.Cys570Ter) n.384T>A c.636+27663T>A (n.636+27663T>A) | ClinVar dbSNP |
| 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=) |