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 |
|---|---|---|---|---|---|
| 2 | g.237381217_237381941delinsGTTGC | CA2580066112 | COL6A3 | c.695-442_977delinsGCAAC c.1313-442_1595delinsGCAAC c.92-442_374delinsGCAAC c.92-4597_92-3873delinsGCAAC (n.92-4597_92-3873delinsGCAAC) | ClinVar |
| 2 | g.237381229G>A | CA2189588 | COL6A3 | c.965C>T (p.Ala322Val) c.1583C>T (p.Ala528Val) c.362C>T (p.Ala121Val) c.92-3885C>T (n.92-3885C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237381229G>C | CA351217555 | COL6A3 | c.965C>G (p.Ala322Gly) c.1583C>G (p.Ala528Gly) c.362C>G (p.Ala121Gly) c.92-3885C>G (n.92-3885C>G) | ClinVar |
| 2 | g.237381229G= | CA1337627306 | COL6A3 | c.965C= (p.Ala322=) c.1583C= (p.Ala528=) c.362C= (p.Ala121=) c.92-3885C= (n.92-3885C=) | |
| 2 | g.237381229G>T | CA351217557 | COL6A3 | c.965C>A (p.Ala322Asp) c.1583C>A (p.Ala528Asp) c.362C>A (p.Ala121Asp) c.92-3885C>A (n.92-3885C>A) | |
| 2 | g.237381230C>A | CA351217559 | COL6A3 | c.964G>T (p.Ala322Ser) c.1582G>T (p.Ala528Ser) c.361G>T (p.Ala121Ser) c.92-3886G>T (n.92-3886G>T) | |
| 2 | g.237381230C= | CA1337627307 | COL6A3 | c.964G= (p.Ala322=) c.1582G= (p.Ala528=) c.361G= (p.Ala121=) c.92-3886G= (n.92-3886G=) | |
| 2 | g.237381230C>G | CA351217560 | COL6A3 | c.964G>C (p.Ala322Pro) c.1582G>C (p.Ala528Pro) c.361G>C (p.Ala121Pro) c.92-3886G>C (n.92-3886G>C) | |
| 2 | g.237381230C>T | CA67830599 | COL6A3 | c.964G>A (p.Ala322Thr) c.1582G>A (p.Ala528Thr) c.361G>A (p.Ala121Thr) c.92-3886G>A (n.92-3886G>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.237381231A>C | CA431712736 | COL6A3 | c.963T>G (p.Ser321=) c.1581T>G (p.Ser527=) c.360T>G (p.Ser120=) c.92-3887T>G (n.92-3887T>G) | |
| 2 | g.237381231A>G | CA431712738 | COL6A3 | c.963T>C (p.Ser321=) c.1581T>C (p.Ser527=) c.360T>C (p.Ser120=) c.92-3887T>C (n.92-3887T>C) | |
| 2 | g.237381231A>T | CA431712737 | COL6A3 | c.963T>A (p.Ser321=) c.1581T>A (p.Ser527=) c.360T>A (p.Ser120=) c.92-3887T>A (n.92-3887T>A) | |
| 2 | g.237381232G>A | CA351217565 | COL6A3 | c.962C>T (p.Ser321Phe) c.1580C>T (p.Ser527Phe) c.359C>T (p.Ser120Phe) c.92-3888C>T (n.92-3888C>T) | |
| 2 | g.237381232G>C | CA351217564 | COL6A3 | c.962C>G (p.Ser321Cys) c.1580C>G (p.Ser527Cys) c.359C>G (p.Ser120Cys) c.92-3888C>G (n.92-3888C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237381232G= | CA1337627308 | COL6A3 | c.962C= (p.Ser321=) c.1580C= (p.Ser527=) c.359C= (p.Ser120=) c.92-3888C= (n.92-3888C=) | |
| 2 | g.237381232G>T | CA351217562 | COL6A3 | c.962C>A (p.Ser321Tyr) c.1580C>A (p.Ser527Tyr) c.359C>A (p.Ser120Tyr) c.92-3888C>A (n.92-3888C>A) | |
| 2 | g.237381233A>C | CA351217567 | COL6A3 | c.961T>G (p.Ser321Ala) c.1579T>G (p.Ser527Ala) c.358T>G (p.Ser120Ala) c.92-3889T>G (n.92-3889T>G) | |
| 2 | g.237381233A>G | CA351217569 | COL6A3 | c.961T>C (p.Ser321Pro) c.1579T>C (p.Ser527Pro) c.358T>C (p.Ser120Pro) c.92-3889T>C (n.92-3889T>C) | |
| 2 | g.237381233A>T | CA351217571 | COL6A3 | c.961T>A (p.Ser321Thr) c.1579T>A (p.Ser527Thr) c.358T>A (p.Ser120Thr) c.92-3889T>A (n.92-3889T>A) | |
| 2 | g.237381234G>A | CA431712739 | COL6A3 | c.960C>T (p.Gly320=) c.1578C>T (p.Gly526=) c.357C>T (p.Gly119=) c.92-3890C>T (n.92-3890C>T) | |
| 2 | g.237381234G>C | CA431712740 | COL6A3 | c.960C>G (p.Gly320=) c.1578C>G (p.Gly526=) c.357C>G (p.Gly119=) c.92-3890C>G (n.92-3890C>G) | |
| 2 | g.237381234G>T | CA431712742 | COL6A3 | c.960C>A (p.Gly320=) c.1578C>A (p.Gly526=) c.357C>A (p.Gly119=) c.92-3890C>A (n.92-3890C>A) | |
| 2 | g.237381235C>A | CA351217577 | COL6A3 | c.959G>T (p.Gly320Val) c.1577G>T (p.Gly526Val) c.356G>T (p.Gly119Val) c.92-3891G>T (n.92-3891G>T) | |
| 2 | g.237381235C>G | CA351217579 | COL6A3 | c.959G>C (p.Gly320Ala) c.1577G>C (p.Gly526Ala) c.356G>C (p.Gly119Ala) c.92-3891G>C (n.92-3891G>C) | gnomAD v4 |
| 2 | g.237381235C>T | CA351217580 | COL6A3 | c.959G>A (p.Gly320Asp) c.1577G>A (p.Gly526Asp) c.356G>A (p.Gly119Asp) c.92-3891G>A (n.92-3891G>A) | |
| 2 | g.237381236C>A | CA351217581 | COL6A3 | c.958G>T (p.Gly320Cys) c.1576G>T (p.Gly526Cys) c.355G>T (p.Gly119Cys) c.92-3892G>T (n.92-3892G>T) | |
| 2 | g.237381236C= | CA1337627309 | COL6A3 | c.958G= (p.Gly320=) c.1576G= (p.Gly526=) c.355G= (p.Gly119=) c.92-3892G= (n.92-3892G=) | |
| 2 | g.237381236C>G | CA351217583 | COL6A3 | c.958G>C (p.Gly320Arg) c.1576G>C (p.Gly526Arg) c.355G>C (p.Gly119Arg) c.92-3892G>C (n.92-3892G>C) | |
| 2 | g.237381236C>T | CA2189589 | COL6A3 | c.958G>A (p.Gly320Ser) c.1576G>A (p.Gly526Ser) c.355G>A (p.Gly119Ser) c.92-3892G>A (n.92-3892G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237381237C>A | CA431712743 | COL6A3 | c.957G>T (p.Thr319=) c.1575G>T (p.Thr525=) c.354G>T (p.Thr118=) c.92-3893G>T (n.92-3893G>T) | |
| 2 | g.237381237C= | CA1337627310 | COL6A3 | c.957G= (p.Thr319=) c.1575G= (p.Thr525=) c.354G= (p.Thr118=) c.92-3893G= (n.92-3893G=) | |
| 2 | g.237381237C>G | CA431712745 | COL6A3 | c.957G>C (p.Thr319=) c.1575G>C (p.Thr525=) c.354G>C (p.Thr118=) c.92-3893G>C (n.92-3893G>C) | gnomAD v4 |
| 2 | g.237381237C>T | CA2189590 | COL6A3 | c.957G>A (p.Thr319=) c.1575G>A (p.Thr525=) c.354G>A (p.Thr118=) c.92-3893G>A (n.92-3893G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237381238G>A | CA2189591 | COL6A3 | c.956C>T (p.Thr319Met) c.1574C>T (p.Thr525Met) c.353C>T (p.Thr118Met) c.92-3894C>T (n.92-3894C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.237381238G>C | CA351217584 | COL6A3 | c.956C>G (p.Thr319Arg) c.1574C>G (p.Thr525Arg) c.353C>G (p.Thr118Arg) c.92-3894C>G (n.92-3894C>G) | |
| 2 | g.237381238G= | CA1337627311 | COL6A3 | c.956C= (p.Thr319=) c.1574C= (p.Thr525=) c.353C= (p.Thr118=) c.92-3894C= (n.92-3894C=) | |
| 2 | g.237381238G>T | CA351217587 | COL6A3 | c.956C>A (p.Thr319Lys) c.1574C>A (p.Thr525Lys) c.353C>A (p.Thr118Lys) c.92-3894C>A (n.92-3894C>A) | |
| 2 | g.237381239T>A | CA351217591 | COL6A3 | c.955A>T (p.Thr319Ser) c.1573A>T (p.Thr525Ser) c.352A>T (p.Thr118Ser) c.92-3895A>T (n.92-3895A>T) | |
| 2 | g.237381239T>C | CA351217594 | COL6A3 | c.955A>G (p.Thr319Ala) c.1573A>G (p.Thr525Ala) c.352A>G (p.Thr118Ala) c.92-3895A>G (n.92-3895A>G) | gnomAD v4 |
| 2 | g.237381239T>G | CA351217589 | COL6A3 | c.955A>C (p.Thr319Pro) c.1573A>C (p.Thr525Pro) c.352A>C (p.Thr118Pro) c.92-3895A>C (n.92-3895A>C) | |
| 2 | g.237381240G>A | CA2189592 | COL6A3 | c.954C>T (p.Tyr318=) c.1572C>T (p.Tyr524=) c.351C>T (p.Tyr117=) c.92-3896C>T (n.92-3896C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237381240G>C | CA351217596 | COL6A3 | c.954C>G (p.Tyr318Ter) c.1572C>G (p.Tyr524Ter) c.351C>G (p.Tyr117Ter) c.92-3896C>G (n.92-3896C>G) | |
| 2 | g.237381240G= | CA1337627312 | COL6A3 | c.954C= (p.Tyr318=) c.1572C= (p.Tyr524=) c.351C= (p.Tyr117=) c.92-3896C= (n.92-3896C=) | |
| 2 | g.237381240G>T | CA351217595 | COL6A3 | c.954C>A (p.Tyr318Ter) c.1572C>A (p.Tyr524Ter) c.351C>A (p.Tyr117Ter) c.92-3896C>A (n.92-3896C>A) | |
| 2 | g.237381241T>A | CA351217597 | COL6A3 | c.953A>T (p.Tyr318Phe) c.1571A>T (p.Tyr524Phe) c.350A>T (p.Tyr117Phe) c.92-3897A>T (n.92-3897A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237381241T>C | CA2189593 | COL6A3 | c.953A>G (p.Tyr318Cys) c.1571A>G (p.Tyr524Cys) c.350A>G (p.Tyr117Cys) c.92-3897A>G (n.92-3897A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237381241T>G | CA351217598 | COL6A3 | c.953A>C (p.Tyr318Ser) c.1571A>C (p.Tyr524Ser) c.350A>C (p.Tyr117Ser) c.92-3897A>C (n.92-3897A>C) | |
| 2 | g.237381241T= | CA1337627313 | COL6A3 | c.953A= (p.Tyr318=) c.1571A= (p.Tyr524=) c.350A= (p.Tyr117=) c.92-3897A= (n.92-3897A=) | |
| 2 | g.237381242A= | CA1337627314 | COL6A3 | c.952T= (p.Tyr318=) c.1570T= (p.Tyr524=) c.349T= (p.Tyr117=) c.92-3898T= (n.92-3898T=) | |
| 2 | g.237381242A>C | CA351217599 | COL6A3 | c.952T>G (p.Tyr318Asp) c.1570T>G (p.Tyr524Asp) c.349T>G (p.Tyr117Asp) c.92-3898T>G (n.92-3898T>G) |