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.48483833_48483840del | CA2580089557 | FBN1 | c.3823_3830del (p.Met1275LeufsTer6) n.2497_2504del c.637-9183_637-9176del (n.637-9183_637-9176del) | ClinVar |
| 15 | g.48483827T>A | CA392323574 | FBN1 | c.3829A>T (p.Thr1277Ser) n.2503A>T c.637-9177A>T (n.637-9177A>T) | |
| 15 | g.48483827T>C | CA392323576 | FBN1 | c.3829A>G (p.Thr1277Ala) n.2503A>G c.637-9177A>G (n.637-9177A>G) | |
| 15 | g.48483827T>G | CA392323572 | FBN1 | c.3829A>C (p.Thr1277Pro) n.2503A>C c.637-9177A>C (n.637-9177A>C) | |
| 15 | g.48483828C>A | CA392323579 | FBN1 | c.3828G>T (p.Lys1276Asn) n.2502G>T c.637-9178G>T (n.637-9178G>T) | |
| 15 | g.48483828C>G | CA392323581 | FBN1 | c.3828G>C (p.Lys1276Asn) n.2502G>C c.637-9178G>C (n.637-9178G>C) | |
| 15 | g.48483828C>T | CA490016935 | FBN1 | c.3828G>A (p.Lys1276=) n.2502G>A c.637-9178G>A (n.637-9178G>A) | |
| 15 | g.48483829T>A | CA392323583 | FBN1 | c.3827A>T (p.Lys1276Met) n.2501A>T c.637-9179A>T (n.637-9179A>T) | |
| 15 | g.48483829T>C | CA392323586 | FBN1 | c.3827A>G (p.Lys1276Arg) n.2501A>G c.637-9179A>G (n.637-9179A>G) | |
| 15 | g.48483829T>G | CA392323588 | FBN1 | c.3827A>C (p.Lys1276Thr) n.2501A>C c.637-9179A>C (n.637-9179A>C) | |
| 15 | g.48483830T>A | CA392323595 | FBN1 | c.3826A>T (p.Lys1276Ter) n.2500A>T c.637-9180A>T (n.637-9180A>T) | |
| 15 | g.48483830T>C | CA392323593 | FBN1 | c.3826A>G (p.Lys1276Glu) n.2500A>G c.637-9180A>G (n.637-9180A>G) | |
| 15 | g.48483830T>G | CA392323591 | FBN1 | c.3826A>C (p.Lys1276Gln) n.2500A>C c.637-9180A>C (n.637-9180A>C) | |
| 15 | g.48483831C>A | CA392323599 | FBN1 | c.3825G>T (p.Met1275Ile) n.2499G>T c.637-9181G>T (n.637-9181G>T) | |
| 15 | g.48483831C>G | CA392323601 | FBN1 | c.3825G>C (p.Met1275Ile) n.2499G>C c.637-9181G>C (n.637-9181G>C) | |
| 15 | g.48483831C>T | CA392323604 | FBN1 | c.3825G>A (p.Met1275Ile) n.2499G>A c.637-9181G>A (n.637-9181G>A) | |
| 15 | g.48483832A>C | CA392323606 | FBN1 | c.3824T>G (p.Met1275Arg) n.2498T>G c.637-9182T>G (n.637-9182T>G) | |
| 15 | g.48483832A>G | CA392323608 | FBN1 | c.3824T>C (p.Met1275Thr) n.2498T>C c.637-9182T>C (n.637-9182T>C) | |
| 15 | g.48483832A>T | CA392323616 | FBN1 | c.3824T>A (p.Met1275Lys) n.2498T>A c.637-9182T>A (n.637-9182T>A) | |
| 15 | g.48483833T>A | CA392323618 | FBN1 | c.3823A>T (p.Met1275Leu) n.2497A>T c.637-9183A>T (n.637-9183A>T) | |
| 15 | g.48483833T>C | CA392323622 | FBN1 | c.3823A>G (p.Met1275Val) n.2497A>G c.637-9183A>G (n.637-9183A>G) | ClinVar dbSNP |
| 15 | g.48483833T>G | CA051554 | FBN1 | c.3823A>C (p.Met1275Leu) n.2497A>C c.637-9183A>C (n.637-9183A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48483833T= | CA2175509397 | FBN1 | c.3823A= (p.Met1275=) n.2497A= c.637-9183A= (n.637-9183A=) | |
| 15 | g.48483834G>A | CA490016943 | FBN1 | c.3822C>T (p.Asp1274=) n.2496C>T c.637-9184C>T (n.637-9184C>T) | |
| 15 | g.48483834G>C | CA392323624 | FBN1 | c.3822C>G (p.Asp1274Glu) n.2496C>G c.637-9184C>G (n.637-9184C>G) | |
| 15 | g.48483834G>T | CA392323625 | FBN1 | c.3822C>A (p.Asp1274Glu) n.2496C>A c.637-9184C>A (n.637-9184C>A) | gnomAD v4 |
| 15 | g.48483835del | CA2580089559 | FBN1 | c.3821del (p.Asp1274AlafsTer2) n.2495del c.637-9185del (n.637-9185del) | ClinVar |
| 15 | g.48483835T>A | CA392323628 | FBN1 | c.3821A>T (p.Asp1274Val) n.2495A>T c.637-9185A>T (n.637-9185A>T) | |
| 15 | g.48483835T>C | CA392323630 | FBN1 | c.3821A>G (p.Asp1274Gly) n.2495A>G c.637-9185A>G (n.637-9185A>G) | gnomAD v4 |
| 15 | g.48483835T>G | CA392323631 | FBN1 | c.3821A>C (p.Asp1274Ala) n.2495A>C c.637-9185A>C (n.637-9185A>C) | |
| 15 | g.48483836C>A | CA392323632 | FBN1 | c.3820G>T (p.Asp1274Tyr) n.2494G>T c.637-9186G>T (n.637-9186G>T) | |
| 15 | g.48483836C>G | CA392323633 | FBN1 | c.3820G>C (p.Asp1274His) n.2494G>C c.637-9186G>C (n.637-9186G>C) | |
| 15 | g.48483836C>T | CA392323635 | FBN1 | c.3820G>A (p.Asp1274Asn) n.2494G>A c.637-9186G>A (n.637-9186G>A) | |
| 15 | g.48483837T>A | CA392323637 | FBN1 | c.3819A>T (p.Glu1273Asp) n.2493A>T c.637-9187A>T (n.637-9187A>T) | |
| 15 | g.48483837T>C | CA490016953 | FBN1 | c.3819A>G (p.Glu1273=) n.2493A>G c.637-9187A>G (n.637-9187A>G) | |
| 15 | g.48483837T>G | CA392323639 | FBN1 | c.3819A>C (p.Glu1273Asp) n.2493A>C c.637-9187A>C (n.637-9187A>C) | |
| 15 | g.48483838T>A | CA392323644 | FBN1 | c.3818A>T (p.Glu1273Val) n.2492A>T c.637-9188A>T (n.637-9188A>T) | |
| 15 | g.48483838T>C | CA392323641 | FBN1 | c.3818A>G (p.Glu1273Gly) n.2492A>G c.637-9188A>G (n.637-9188A>G) | |
| 15 | g.48483838T>G | CA392323642 | FBN1 | c.3818A>C (p.Glu1273Ala) n.2492A>C c.637-9188A>C (n.637-9188A>C) | |
| 15 | g.48483839C>A | CA392323647 | FBN1 | c.3817G>T (p.Glu1273Ter) n.2491G>T c.637-9189G>T (n.637-9189G>T) | |
| 15 | g.48483839C>G | CA392323658 | FBN1 | c.3817G>C (p.Glu1273Gln) n.2491G>C c.637-9189G>C (n.637-9189G>C) | |
| 15 | g.48483839C>T | CA392323655 | FBN1 | c.3817G>A (p.Glu1273Lys) n.2491G>A c.637-9189G>A (n.637-9189G>A) | |
| 15 | g.48483840del | CA2573150789 | FBN1 | c.3816del (p.Glu1273LysfsTer3) n.2490del c.637-9190del (n.637-9190del) | ClinVar dbSNP |
| 15 | g.48483840A>C | CA490016960 | FBN1 | c.3816T>G (p.Ser1272=) n.2490T>G c.637-9190T>G (n.637-9190T>G) | |
| 15 | g.48483840A>G | CA490016961 | FBN1 | c.3816T>C (p.Ser1272=) n.2490T>C c.637-9190T>C (n.637-9190T>C) | |
| 15 | g.48483840A>T | CA490016962 | FBN1 | c.3816T>A (p.Ser1272=) n.2490T>A c.637-9190T>A (n.637-9190T>A) | |
| 15 | g.48483840_48483841delinsAG | CA2175509406 | FBN1 | c.3815_3816delinsCT (p.Ser1272=) n.2489_2490delinsCT c.637-9191_637-9190delinsCT (n.637-9191_637-9190delinsCT) | |
| 15 | g.48483841del | CA658798366 | FBN1 | c.3815del (p.Ser1272LeufsTer4) n.2489del c.637-9191del (n.637-9191del) | ClinVar dbSNP |
| 15 | g.48483841G>A | CA392323661 | FBN1 | c.3815C>T (p.Ser1272Phe) n.2489C>T c.637-9191C>T (n.637-9191C>T) | |
| 15 | g.48483841G>C | CA392323663 | FBN1 | c.3815C>G (p.Ser1272Cys) n.2489C>G c.637-9191C>G (n.637-9191C>G) |