WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129342365_129342383dup | CA2739266103 | LAMA2 | c.4334_4352dup (p.Cys1451TrpfsTer2) c.4598_4616dup (p.Cys1539TrpfsTer2) c.4604_4622dup (p.Cys1541TrpfsTer2) c.2729_2747dup (p.Cys916TrpfsTer2) | ClinVar |
| 6 | g.129342379C>A | CA451925462 | LAMA2 | c.4348C>A (p.Arg1450=) c.4612C>A (p.Arg1538=) c.4618C>A (p.Arg1540=) c.2743C>A (p.Arg915=) | gnomAD v4 |
| 6 | g.129342379C= | CA1663123261 | LAMA2 | c.4348C= (p.Arg1450=) c.4612C= (p.Arg1538=) c.4618C= (p.Arg1540=) c.2743C= (p.Arg915=) | |
| 6 | g.129342379C>G | CA365615223 | LAMA2 | c.4348C>G (p.Arg1450Gly) c.4612C>G (p.Arg1538Gly) c.4618C>G (p.Arg1540Gly) c.2743C>G (p.Arg915Gly) | |
| 6 | g.129342379C>T | CA236268 | LAMA2 | c.4348C>T (p.Arg1450Ter) c.4612C>T (p.Arg1538Ter) c.4618C>T (p.Arg1540Ter) c.2743C>T (p.Arg915Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129342380G>A | CA3993526 | LAMA2 | c.4349G>A (p.Arg1450Gln) c.4613G>A (p.Arg1538Gln) c.4619G>A (p.Arg1540Gln) c.2744G>A (p.Arg915Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342380G>C | CA365615228 | LAMA2 | c.4349G>C (p.Arg1450Pro) c.4613G>C (p.Arg1538Pro) c.4619G>C (p.Arg1540Pro) c.2744G>C (p.Arg915Pro) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129342380G= | CA1663123269 | LAMA2 | c.4349G= (p.Arg1450=) c.4613G= (p.Arg1538=) c.4619G= (p.Arg1540=) c.2744G= (p.Arg915=) | |
| 6 | g.129342380G>T | CA365615229 | LAMA2 | c.4349G>T (p.Arg1450Leu) c.4613G>T (p.Arg1538Leu) c.4619G>T (p.Arg1540Leu) c.2744G>T (p.Arg915Leu) | gnomAD v4 |
| 6 | g.129342381A>C | CA451925472 | LAMA2 | c.4350A>C (p.Arg1450=) c.4614A>C (p.Arg1538=) c.4620A>C (p.Arg1540=) c.2745A>C (p.Arg915=) | |
| 6 | g.129342381A>G | CA451925474 | LAMA2 | c.4350A>G (p.Arg1450=) c.4614A>G (p.Arg1538=) c.4620A>G (p.Arg1540=) c.2745A>G (p.Arg915=) | |
| 6 | g.129342381A>T | CA451925477 | LAMA2 | c.4350A>T (p.Arg1450=) c.4614A>T (p.Arg1538=) c.4620A>T (p.Arg1540=) c.2745A>T (p.Arg915=) | |
| 6 | g.129342382T>A | CA365615232 | LAMA2 | c.4351T>A (p.Cys1451Ser) c.4615T>A (p.Cys1539Ser) c.4621T>A (p.Cys1541Ser) c.2746T>A (p.Cys916Ser) | |
| 6 | g.129342382T>C | CA365615234 | LAMA2 | c.4351T>C (p.Cys1451Arg) c.4615T>C (p.Cys1539Arg) c.4621T>C (p.Cys1541Arg) c.2746T>C (p.Cys916Arg) | dbSNP gnomAD v4 |
| 6 | g.129342382T>G | CA365615235 | LAMA2 | c.4351T>G (p.Cys1451Gly) c.4615T>G (p.Cys1539Gly) c.4621T>G (p.Cys1541Gly) c.2746T>G (p.Cys916Gly) | |
| 6 | g.129342382T= | CA1663123279 | LAMA2 | c.4351T= (p.Cys1451=) c.4615T= (p.Cys1539=) c.4621T= (p.Cys1541=) c.2746T= (p.Cys916=) | |
| 6 | g.129342383G>A | CA365615240 | LAMA2 | c.4352G>A (p.Cys1451Tyr) c.4616G>A (p.Cys1539Tyr) n.1G>A c.4622G>A (p.Cys1541Tyr) c.2747G>A (p.Cys916Tyr) | |
| 6 | g.129342383G>C | CA365615241 | LAMA2 | c.4352G>C (p.Cys1451Ser) c.4616G>C (p.Cys1539Ser) n.1G>C c.4622G>C (p.Cys1541Ser) c.2747G>C (p.Cys916Ser) | |
| 6 | g.129342383G>T | CA365615238 | LAMA2 | c.4352G>T (p.Cys1451Phe) c.4616G>T (p.Cys1539Phe) n.1G>T c.4622G>T (p.Cys1541Phe) c.2747G>T (p.Cys916Phe) | |
| 6 | g.129342384T>A | CA365615244 | LAMA2 | c.4353T>A (p.Cys1451Ter) c.4617T>A (p.Cys1539Ter) n.2T>A c.4623T>A (p.Cys1541Ter) c.2748T>A (p.Cys916Ter) | |
| 6 | g.129342384T>C | CA451925499 | LAMA2 | c.4353T>C (p.Cys1451=) c.4617T>C (p.Cys1539=) n.2T>C c.4623T>C (p.Cys1541=) c.2748T>C (p.Cys916=) | gnomAD v4 |
| 6 | g.129342384T>G | CA365615245 | LAMA2 | c.4353T>G (p.Cys1451Trp) c.4617T>G (p.Cys1539Trp) n.2T>G c.4623T>G (p.Cys1541Trp) c.2748T>G (p.Cys916Trp) | |
| 6 | g.129342385G>A | CA365615247 | LAMA2 | c.4354G>A (p.Ala1452Thr) c.4618G>A (p.Ala1540Thr) n.3G>A c.4624G>A (p.Ala1542Thr) c.2749G>A (p.Ala917Thr) | |
| 6 | g.129342385G>C | CA365615249 | LAMA2 | c.4354G>C (p.Ala1452Pro) c.4618G>C (p.Ala1540Pro) n.3G>C c.4624G>C (p.Ala1542Pro) c.2749G>C (p.Ala917Pro) | |
| 6 | g.129342385G>T | CA365615251 | LAMA2 | c.4354G>T (p.Ala1452Ser) c.4618G>T (p.Ala1540Ser) n.3G>T c.4624G>T (p.Ala1542Ser) c.2749G>T (p.Ala917Ser) | |
| 6 | g.129342386C>A | CA365615256 | LAMA2 | c.4355C>A (p.Ala1452Asp) c.4619C>A (p.Ala1540Asp) n.4C>A c.4625C>A (p.Ala1542Asp) c.2750C>A (p.Ala917Asp) | |
| 6 | g.129342386C= | CA1663123284 | LAMA2 | c.4355C= (p.Ala1452=) c.4619C= (p.Ala1540=) n.4C= c.4625C= (p.Ala1542=) c.2750C= (p.Ala917=) | |
| 6 | g.129342386C>G | CA365615254 | LAMA2 | c.4355C>G (p.Ala1452Gly) c.4619C>G (p.Ala1540Gly) n.4C>G c.4625C>G (p.Ala1542Gly) c.2750C>G (p.Ala917Gly) | |
| 6 | g.129342386C>T | CA146901632 | LAMA2 | c.4355C>T (p.Ala1452Val) c.4619C>T (p.Ala1540Val) n.4C>T c.4625C>T (p.Ala1542Val) c.2750C>T (p.Ala917Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129342387T>A | CA451925510 | LAMA2 | c.4356T>A (p.Ala1452=) c.4620T>A (p.Ala1540=) n.5T>A c.4626T>A (p.Ala1542=) c.2751T>A (p.Ala917=) | |
| 6 | g.129342387T>C | CA451925513 | LAMA2 | c.4356T>C (p.Ala1452=) c.4620T>C (p.Ala1540=) n.5T>C c.4626T>C (p.Ala1542=) c.2751T>C (p.Ala917=) | |
| 6 | g.129342387T>G | CA451925519 | LAMA2 | c.4356T>G (p.Ala1452=) c.4620T>G (p.Ala1540=) n.5T>G c.4626T>G (p.Ala1542=) c.2751T>G (p.Ala917=) | |
| 6 | g.129342388C>A | CA365615259 | LAMA2 | c.4357C>A (p.Leu1453Ile) c.4621C>A (p.Leu1541Ile) n.6C>A c.4627C>A (p.Leu1543Ile) c.2752C>A (p.Leu918Ile) | |
| 6 | g.129342388C= | CA1663123292 | LAMA2 | c.4357C= (p.Leu1453=) c.4621C= (p.Leu1541=) n.6C= c.4627C= (p.Leu1543=) c.2752C= (p.Leu918=) | |
| 6 | g.129342388C>G | CA365615260 | LAMA2 | c.4357C>G (p.Leu1453Val) c.4621C>G (p.Leu1541Val) n.6C>G c.4627C>G (p.Leu1543Val) c.2752C>G (p.Leu918Val) | |
| 6 | g.129342388C>T | CA365615262 | LAMA2 | c.4357C>T (p.Leu1453Phe) c.4621C>T (p.Leu1541Phe) n.6C>T c.4627C>T (p.Leu1543Phe) c.2752C>T (p.Leu918Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342389T>A | CA365615265 | LAMA2 | c.4358T>A (p.Leu1453His) c.4622T>A (p.Leu1541His) n.7T>A c.4628T>A (p.Leu1543His) c.2753T>A (p.Leu918His) | |
| 6 | g.129342389T>C | CA365615266 | LAMA2 | c.4358T>C (p.Leu1453Pro) c.4622T>C (p.Leu1541Pro) n.7T>C c.4628T>C (p.Leu1543Pro) c.2753T>C (p.Leu918Pro) | |
| 6 | g.129342389T>G | CA365615268 | LAMA2 | c.4358T>G (p.Leu1453Arg) c.4622T>G (p.Leu1541Arg) n.7T>G c.4628T>G (p.Leu1543Arg) c.2753T>G (p.Leu918Arg) | |
| 6 | g.129342390T>A | CA451925525 | LAMA2 | c.4359T>A (p.Leu1453=) c.4623T>A (p.Leu1541=) n.8T>A c.4629T>A (p.Leu1543=) c.2754T>A (p.Leu918=) | |
| 6 | g.129342390T>C | CA451925527 | LAMA2 | c.4359T>C (p.Leu1453=) c.4623T>C (p.Leu1541=) n.8T>C c.4629T>C (p.Leu1543=) c.2754T>C (p.Leu918=) | |
| 6 | g.129342390T>G | CA451925526 | LAMA2 | c.4359T>G (p.Leu1453=) c.4623T>G (p.Leu1541=) n.8T>G c.4629T>G (p.Leu1543=) c.2754T>G (p.Leu918=) | |
| 6 | g.129342391G>A | CA365615274 | LAMA2 | c.4360G>A (p.Gly1454Arg) c.4624G>A (p.Gly1542Arg) n.9G>A c.4630G>A (p.Gly1544Arg) c.2755G>A (p.Gly919Arg) | |
| 6 | g.129342391G>C | CA365615270 | LAMA2 | c.4360G>C (p.Gly1454Arg) c.4624G>C (p.Gly1542Arg) n.9G>C c.4630G>C (p.Gly1544Arg) c.2755G>C (p.Gly919Arg) | |
| 6 | g.129342391G>T | CA365615272 | LAMA2 | c.4360G>T (p.Gly1454Ter) c.4624G>T (p.Gly1542Ter) n.9G>T c.4630G>T (p.Gly1544Ter) c.2755G>T (p.Gly919Ter) | |
| 6 | g.129342392G>A | CA365615276 | LAMA2 | c.4361G>A (p.Gly1454Glu) c.4625G>A (p.Gly1542Glu) n.10G>A c.4631G>A (p.Gly1544Glu) c.2756G>A (p.Gly919Glu) | |
| 6 | g.129342392G>C | CA365615278 | LAMA2 | c.4361G>C (p.Gly1454Ala) c.4625G>C (p.Gly1542Ala) n.10G>C c.4631G>C (p.Gly1544Ala) c.2756G>C (p.Gly919Ala) | |
| 6 | g.129342392G>T | CA365615280 | LAMA2 | c.4361G>T (p.Gly1454Val) c.4625G>T (p.Gly1542Val) n.10G>T c.4631G>T (p.Gly1544Val) c.2756G>T (p.Gly919Val) | |
| 6 | g.129342393A= | CA1663123298 | LAMA2 | c.4362A= (p.Gly1454=) c.4626A= (p.Gly1542=) n.11A= c.4632A= (p.Gly1544=) c.2757A= (p.Gly919=) | |
| 6 | g.129342393A>C | CA451925536 | LAMA2 | c.4362A>C (p.Gly1454=) c.4626A>C (p.Gly1542=) n.11A>C c.4632A>C (p.Gly1544=) c.2757A>C (p.Gly919=) |