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.48448774_48448777dup | CA2695220280 | FBN1 | c.5662_5665dup (p.Cys1889TyrfsTer7) n.4336_4339dup c.661_664dup (p.Cys222TyrfsTer7) c.*1425_*1428dup (n.*1425_*1428dup) c.969_972dup | |
| 15 | g.48448774_48448782delinsGC | CA2580089535 | FBN1 | c.5657_5665delinsGC (p.Gln1886ArgfsTer5) n.4331_4339delinsGC c.656_664delinsGC (p.Gln219ArgfsTer5) c.*1420_*1428delinsGC (n.*1420_*1428delinsGC) c.964_972delinsGC | ClinVar |
| 15 | g.48448775C>A | CA392341672 | FBN1 | c.5664G>T (p.Met1888Ile) n.4338G>T c.663G>T (p.Met221Ile) c.*1427G>T (n.*1427G>T) c.971G>T | |
| 15 | g.48448775C= | CA2175498160 | FBN1 | c.5664G= (p.Met1888=) n.4338G= c.663G= (p.Met221=) c.*1427G= (n.*1427G=) c.971G= | |
| 15 | g.48448775C>G | CA392341674 | FBN1 | c.5664G>C (p.Met1888Ile) n.4338G>C c.663G>C (p.Met221Ile) c.*1427G>C (n.*1427G>C) c.971G>C | |
| 15 | g.48448775C>T | CA16614639 | FBN1 | c.5664G>A (p.Met1888Ile) n.4338G>A c.663G>A (p.Met221Ile) c.*1427G>A (n.*1427G>A) c.971G>A | ClinVar dbSNP |
| 15 | g.48448775_48448776delinsCA | CA2175498170 | FBN1 | c.5663_5664delinsTG (p.Met1888=) n.4337_4338delinsTG c.662_663delinsTG (p.Met221=) c.*1426_*1427delinsTG (n.*1426_*1427delinsTG) c.970_971delinsTG | |
| 15 | g.48448776del | CA658683893 | FBN1 | c.5663del (p.Met1888SerfsTer5) n.4337del c.662del (p.Met221SerfsTer5) c.*1426del (n.*1426del) c.970del | ClinVar dbSNP |
| 15 | g.48448776A>C | CA392341677 | FBN1 | c.5663T>G (p.Met1888Arg) n.4337T>G c.662T>G (p.Met221Arg) c.*1426T>G (n.*1426T>G) c.970T>G | |
| 15 | g.48448776A>G | CA392341680 | FBN1 | c.5663T>C (p.Met1888Thr) n.4337T>C c.662T>C (p.Met221Thr) c.*1426T>C (n.*1426T>C) c.970T>C | |
| 15 | g.48448776A>T | CA392341682 | FBN1 | c.5663T>A (p.Met1888Lys) n.4337T>A c.662T>A (p.Met221Lys) c.*1426T>A (n.*1426T>A) c.970T>A | |
| 15 | g.48448777T>A | CA055331 | FBN1 | c.5662A>T (p.Met1888Leu) n.4336A>T c.661A>T (p.Met221Leu) c.*1425A>T (n.*1425A>T) c.969A>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48448777T>C | CA392341685 | FBN1 | c.5662A>G (p.Met1888Val) n.4336A>G c.661A>G (p.Met221Val) c.*1425A>G (n.*1425A>G) c.969A>G | gnomAD v4 |
| 15 | g.48448777T>G | CA392341687 | FBN1 | c.5662A>C (p.Met1888Leu) n.4336A>C c.661A>C (p.Met221Leu) c.*1425A>C (n.*1425A>C) c.969A>C | |
| 15 | g.48448777T= | CA2175498180 | FBN1 | c.5662A= (p.Met1888=) n.4336A= c.661A= (p.Met221=) c.*1425A= (n.*1425A=) c.969A= | |
| 15 | g.48448778G>A | CA490023108 | FBN1 | c.5661C>T (p.Thr1887=) n.4335C>T c.660C>T (p.Thr220=) c.*1424C>T (n.*1424C>T) c.968C>T | |
| 15 | g.48448778G>C | CA490023110 | FBN1 | c.5661C>G (p.Thr1887=) n.4335C>G c.660C>G (p.Thr220=) c.*1424C>G (n.*1424C>G) c.968C>G | |
| 15 | g.48448778G>T | CA490023109 | FBN1 | c.5661C>A (p.Thr1887=) n.4335C>A c.660C>A (p.Thr220=) c.*1424C>A (n.*1424C>A) c.968C>A | gnomAD v4 |
| 15 | g.48448779G>A | CA392341691 | FBN1 | c.5660C>T (p.Thr1887Ile) n.4334C>T c.659C>T (p.Thr220Ile) c.*1423C>T (n.*1423C>T) c.967C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448779G>C | CA392341694 | FBN1 | c.5660C>G (p.Thr1887Ser) n.4334C>G c.659C>G (p.Thr220Ser) c.*1423C>G (n.*1423C>G) c.967C>G | |
| 15 | g.48448779G= | CA2175498186 | FBN1 | c.5660C= (p.Thr1887=) n.4334C= c.659C= (p.Thr220=) c.*1423C= (n.*1423C=) c.967C= | |
| 15 | g.48448779G>T | CA392341697 | FBN1 | c.5660C>A (p.Thr1887Asn) n.4334C>A c.659C>A (p.Thr220Asn) c.*1423C>A (n.*1423C>A) c.967C>A | |
| 15 | g.48448780T>A | CA392341700 | FBN1 | c.5659A>T (p.Thr1887Ser) n.4333A>T c.658A>T (p.Thr220Ser) c.*1422A>T (n.*1422A>T) c.966A>T | |
| 15 | g.48448780T>C | CA392341702 | FBN1 | c.5659A>G (p.Thr1887Ala) n.4333A>G c.658A>G (p.Thr220Ala) c.*1422A>G (n.*1422A>G) c.966A>G | |
| 15 | g.48448780T>G | CA392341704 | FBN1 | c.5659A>C (p.Thr1887Pro) n.4333A>C c.658A>C (p.Thr220Pro) c.*1422A>C (n.*1422A>C) c.966A>C | |
| 15 | g.48448781T>A | CA392341707 | FBN1 | c.5658A>T (p.Gln1886His) n.4332A>T c.657A>T (p.Gln219His) c.*1421A>T (n.*1421A>T) c.965A>T | |
| 15 | g.48448781T>C | CA490023113 | FBN1 | c.5658A>G (p.Gln1886=) n.4332A>G c.657A>G (p.Gln219=) c.*1421A>G (n.*1421A>G) c.965A>G | gnomAD v4 |
| 15 | g.48448781T>G | CA392341708 | FBN1 | c.5658A>C (p.Gln1886His) n.4332A>C c.657A>C (p.Gln219His) c.*1421A>C (n.*1421A>C) c.965A>C | |
| 15 | g.48448782T>A | CA392341710 | FBN1 | c.5657A>T (p.Gln1886Leu) n.4331A>T c.656A>T (p.Gln219Leu) c.*1420A>T (n.*1420A>T) c.964A>T | |
| 15 | g.48448782T>C | CA392341712 | FBN1 | c.5657A>G (p.Gln1886Arg) n.4331A>G c.656A>G (p.Gln219Arg) c.*1420A>G (n.*1420A>G) c.964A>G | |
| 15 | g.48448782T>G | CA392341714 | FBN1 | c.5657A>C (p.Gln1886Pro) n.4331A>C c.656A>C (p.Gln219Pro) c.*1420A>C (n.*1420A>C) c.964A>C | |
| 15 | g.48448783G>A | CA392341721 | FBN1 | c.5656C>T (p.Gln1886Ter) n.4330C>T c.655C>T (p.Gln219Ter) c.*1419C>T (n.*1419C>T) c.963C>T | ClinVar |
| 15 | g.48448783G>C | CA269534994 | FBN1 | c.5656C>G (p.Gln1886Glu) n.4330C>G c.655C>G (p.Gln219Glu) c.*1419C>G (n.*1419C>G) c.963C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448783G= | CA2175498207 | FBN1 | c.5656C= (p.Gln1886=) n.4330C= c.655C= (p.Gln219=) c.*1419C= (n.*1419C=) c.963C= | |
| 15 | g.48448783G>T | CA392341718 | FBN1 | c.5656C>A (p.Gln1886Lys) n.4330C>A c.655C>A (p.Gln219Lys) c.*1419C>A (n.*1419C>A) c.963C>A | gnomAD v4 |
| 15 | g.48448784G>A | CA490023114 | FBN1 | c.5655C>T (p.Asp1885=) n.4329C>T c.654C>T (p.Asp218=) c.*1418C>T (n.*1418C>T) c.962C>T | |
| 15 | g.48448784G>C | CA392341724 | FBN1 | c.5655C>G (p.Asp1885Glu) n.4329C>G c.654C>G (p.Asp218Glu) c.*1418C>G (n.*1418C>G) c.962C>G | ClinVar |
| 15 | g.48448784G>T | CA392341726 | FBN1 | c.5655C>A (p.Asp1885Glu) n.4329C>A c.654C>A (p.Asp218Glu) c.*1418C>A (n.*1418C>A) c.962C>A | |
| 15 | g.48448785T>A | CA392341727 | FBN1 | c.5654A>T (p.Asp1885Val) n.4328A>T c.653A>T (p.Asp218Val) c.*1417A>T (n.*1417A>T) c.961A>T | |
| 15 | g.48448785T>C | CA392341728 | FBN1 | c.5654A>G (p.Asp1885Gly) n.4328A>G c.653A>G (p.Asp218Gly) c.*1417A>G (n.*1417A>G) c.961A>G | |
| 15 | g.48448785T>G | CA392341729 | FBN1 | c.5654A>C (p.Asp1885Ala) n.4328A>C c.653A>C (p.Asp218Ala) c.*1417A>C (n.*1417A>C) c.961A>C | |
| 15 | g.48448786C>A | CA392341731 | FBN1 | c.5653G>T (p.Asp1885Tyr) n.4327G>T c.652G>T (p.Asp218Tyr) c.*1416G>T (n.*1416G>T) c.960G>T | gnomAD v4 |
| 15 | g.48448786C>G | CA392341733 | FBN1 | c.5653G>C (p.Asp1885His) n.4327G>C c.652G>C (p.Asp218His) c.*1416G>C (n.*1416G>C) c.960G>C | |
| 15 | g.48448786C>T | CA392341734 | FBN1 | c.5653G>A (p.Asp1885Asn) n.4327G>A c.652G>A (p.Asp218Asn) c.*1416G>A (n.*1416G>A) c.960G>A | |
| 15 | g.48448787A>C | CA392341735 | FBN1 | c.5652T>G (p.Asp1884Glu) n.4326T>G c.651T>G (p.Asp217Glu) c.*1415T>G (n.*1415T>G) c.959T>G | |
| 15 | g.48448787A>G | CA490023116 | FBN1 | c.5652T>C (p.Asp1884=) n.4326T>C c.651T>C (p.Asp217=) c.*1415T>C (n.*1415T>C) c.959T>C | |
| 15 | g.48448787A>T | CA392341737 | FBN1 | c.5652T>A (p.Asp1884Glu) n.4326T>A c.651T>A (p.Asp217Glu) c.*1415T>A (n.*1415T>A) c.959T>A | |
| 15 | g.48448788T>A | CA392341739 | FBN1 | c.5651A>T (p.Asp1884Val) n.4325A>T c.650A>T (p.Asp217Val) c.*1414A>T (n.*1414A>T) c.958A>T | ClinVar gnomAD v4 |
| 15 | g.48448788T>C | CA392341740 | FBN1 | c.5651A>G (p.Asp1884Gly) n.4325A>G c.650A>G (p.Asp217Gly) c.*1414A>G (n.*1414A>G) c.958A>G | |
| 15 | g.48448788T>G | CA392341741 | FBN1 | c.5651A>C (p.Asp1884Ala) n.4325A>C c.650A>C (p.Asp217Ala) c.*1414A>C (n.*1414A>C) c.958A>C |