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 |
|---|---|---|---|---|---|
| 8 | g.60853203G>A | CA171759 | CHD7 | c.6478G>A (p.Ala2160Thr) c.1717-9026G>A (n.1717-9026G>A) c.6568G>A (p.Ala2190Thr) c.4555G>A (p.Ala1519Thr) c.4105G>A (p.Ala1369Thr) c.3313G>A (p.Ala1105Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853203G>C | CA371325382 | CHD7 | c.6478G>C (p.Ala2160Pro) c.1717-9026G>C (n.1717-9026G>C) c.6568G>C (p.Ala2190Pro) c.4555G>C (p.Ala1519Pro) c.4105G>C (p.Ala1369Pro) c.3313G>C (p.Ala1105Pro) | |
| 8 | g.60853203G= | CA1788104129 | CHD7 | c.6478G= (p.Ala2160=) c.1717-9026G= (n.1717-9026G=) c.6568G= (p.Ala2190=) c.4555G= (p.Ala1519=) c.4105G= (p.Ala1369=) c.3313G= (p.Ala1105=) | |
| 8 | g.60853203G>T | CA371325381 | CHD7 | c.6478G>T (p.Ala2160Ser) c.1717-9026G>T (n.1717-9026G>T) c.6568G>T (p.Ala2190Ser) c.4555G>T (p.Ala1519Ser) c.4105G>T (p.Ala1369Ser) c.3313G>T (p.Ala1105Ser) | |
| 8 | g.60853204C>A | CA371325385 | CHD7 | c.6479C>A (p.Ala2160Asp) c.1717-9025C>A (n.1717-9025C>A) c.6569C>A (p.Ala2190Asp) c.4556C>A (p.Ala1519Asp) c.4106C>A (p.Ala1369Asp) c.3314C>A (p.Ala1105Asp) | |
| 8 | g.60853204C>G | CA371325386 | CHD7 | c.6479C>G (p.Ala2160Gly) c.1717-9025C>G (n.1717-9025C>G) c.6569C>G (p.Ala2190Gly) c.4556C>G (p.Ala1519Gly) c.4106C>G (p.Ala1369Gly) c.3314C>G (p.Ala1105Gly) | gnomAD v4 |
| 8 | g.60853204C>T | CA371325387 | CHD7 | c.6479C>T (p.Ala2160Val) c.1717-9025C>T (n.1717-9025C>T) c.6569C>T (p.Ala2190Val) c.4556C>T (p.Ala1519Val) c.4106C>T (p.Ala1369Val) c.3314C>T (p.Ala1105Val) | |
| 8 | g.60853205T>A | CA461105062 | CHD7 | c.6480T>A (p.Ala2160=) c.1717-9024T>A (n.1717-9024T>A) c.6570T>A (p.Ala2190=) c.4557T>A (p.Ala1519=) c.4107T>A (p.Ala1369=) c.3315T>A (p.Ala1105=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853205T>C | CA461105063 | CHD7 | c.6480T>C (p.Ala2160=) c.1717-9024T>C (n.1717-9024T>C) c.6570T>C (p.Ala2190=) c.4557T>C (p.Ala1519=) c.4107T>C (p.Ala1369=) c.3315T>C (p.Ala1105=) | |
| 8 | g.60853205T>G | CA4760597 | CHD7 | c.6480T>G (p.Ala2160=) c.1717-9024T>G (n.1717-9024T>G) c.6570T>G (p.Ala2190=) c.4557T>G (p.Ala1519=) c.4107T>G (p.Ala1369=) c.3315T>G (p.Ala1105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853205T= | CA1788104135 | CHD7 | c.6480T= (p.Ala2160=) c.1717-9024T= (n.1717-9024T=) c.6570T= (p.Ala2190=) c.4557T= (p.Ala1519=) c.4107T= (p.Ala1369=) c.3315T= (p.Ala1105=) | |
| 8 | g.60853206C>A | CA371325388 | CHD7 | c.6481C>A (p.His2161Asn) c.1717-9023C>A (n.1717-9023C>A) c.6571C>A (p.His2191Asn) c.4558C>A (p.His1520Asn) c.4108C>A (p.His1370Asn) c.3316C>A (p.His1106Asn) | |
| 8 | g.60853206C>G | CA371325390 | CHD7 | c.6481C>G (p.His2161Asp) c.1717-9023C>G (n.1717-9023C>G) c.6571C>G (p.His2191Asp) c.4558C>G (p.His1520Asp) c.4108C>G (p.His1370Asp) c.3316C>G (p.His1106Asp) | |
| 8 | g.60853206C>T | CA371325389 | CHD7 | c.6481C>T (p.His2161Tyr) c.1717-9023C>T (n.1717-9023C>T) c.6571C>T (p.His2191Tyr) c.4558C>T (p.His1520Tyr) c.4108C>T (p.His1370Tyr) c.3316C>T (p.His1106Tyr) | |
| 8 | g.60853207A= | CA1788104139 | CHD7 | c.6482A= (p.His2161=) c.1717-9022A= (n.1717-9022A=) c.6572A= (p.His2191=) c.4559A= (p.His1520=) c.4109A= (p.His1370=) c.3317A= (p.His1106=) | |
| 8 | g.60853207A>C | CA371325399 | CHD7 | c.6482A>C (p.His2161Pro) c.1717-9022A>C (n.1717-9022A>C) c.6572A>C (p.His2191Pro) c.4559A>C (p.His1520Pro) c.4109A>C (p.His1370Pro) c.3317A>C (p.His1106Pro) | |
| 8 | g.60853207A>G | CA371325400 | CHD7 | c.6482A>G (p.His2161Arg) c.1717-9022A>G (n.1717-9022A>G) c.6572A>G (p.His2191Arg) c.4559A>G (p.His1520Arg) c.4109A>G (p.His1370Arg) c.3317A>G (p.His1106Arg) | dbSNP |
| 8 | g.60853207A>T | CA371325402 | CHD7 | c.6482A>T (p.His2161Leu) c.1717-9022A>T (n.1717-9022A>T) c.6572A>T (p.His2191Leu) c.4559A>T (p.His1520Leu) c.4109A>T (p.His1370Leu) c.3317A>T (p.His1106Leu) | |
| 8 | g.60853208T>A | CA4760598 | CHD7 | c.6483T>A (p.His2161Gln) c.1717-9021T>A (n.1717-9021T>A) c.6573T>A (p.His2191Gln) c.4560T>A (p.His1520Gln) c.4110T>A (p.His1370Gln) c.3318T>A (p.His1106Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853208T>C | CA461105064 | CHD7 | c.6483T>C (p.His2161=) c.1717-9021T>C (n.1717-9021T>C) c.6573T>C (p.His2191=) c.4560T>C (p.His1520=) c.4110T>C (p.His1370=) c.3318T>C (p.His1106=) | |
| 8 | g.60853208T>G | CA371325406 | CHD7 | c.6483T>G (p.His2161Gln) c.1717-9021T>G (n.1717-9021T>G) c.6573T>G (p.His2191Gln) c.4560T>G (p.His1520Gln) c.4110T>G (p.His1370Gln) c.3318T>G (p.His1106Gln) | |
| 8 | g.60853208T= | CA1788104166 | CHD7 | c.6483T= (p.His2161=) c.1717-9021T= (n.1717-9021T=) c.6573T= (p.His2191=) c.4560T= (p.His1520=) c.4110T= (p.His1370=) c.3318T= (p.His1106=) | |
| 8 | g.60853209A>C | CA371325409 | CHD7 | c.6484A>C (p.Ile2162Leu) c.1717-9020A>C (n.1717-9020A>C) c.6574A>C (p.Ile2192Leu) c.4561A>C (p.Ile1521Leu) c.4111A>C (p.Ile1371Leu) c.3319A>C (p.Ile1107Leu) | |
| 8 | g.60853209A>G | CA371325410 | CHD7 | c.6484A>G (p.Ile2162Val) c.1717-9020A>G (n.1717-9020A>G) c.6574A>G (p.Ile2192Val) c.4561A>G (p.Ile1521Val) c.4111A>G (p.Ile1371Val) c.3319A>G (p.Ile1107Val) | gnomAD v4 |
| 8 | g.60853209A>T | CA371325413 | CHD7 | c.6484A>T (p.Ile2162Phe) c.1717-9020A>T (n.1717-9020A>T) c.6574A>T (p.Ile2192Phe) c.4561A>T (p.Ile1521Phe) c.4111A>T (p.Ile1371Phe) c.3319A>T (p.Ile1107Phe) | |
| 8 | g.60853210T>A | CA371325415 | CHD7 | c.6485T>A (p.Ile2162Asn) c.1717-9019T>A (n.1717-9019T>A) c.6575T>A (p.Ile2192Asn) c.4562T>A (p.Ile1521Asn) c.4112T>A (p.Ile1371Asn) c.3320T>A (p.Ile1107Asn) | gnomAD v4 |
| 8 | g.60853210T>C | CA371325417 | CHD7 | c.6485T>C (p.Ile2162Thr) c.1717-9019T>C (n.1717-9019T>C) c.6575T>C (p.Ile2192Thr) c.4562T>C (p.Ile1521Thr) c.4112T>C (p.Ile1371Thr) c.3320T>C (p.Ile1107Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853210T>G | CA371325420 | CHD7 | c.6485T>G (p.Ile2162Ser) c.1717-9019T>G (n.1717-9019T>G) c.6575T>G (p.Ile2192Ser) c.4562T>G (p.Ile1521Ser) c.4112T>G (p.Ile1371Ser) c.3320T>G (p.Ile1107Ser) | ClinVar |
| 8 | g.60853210T= | CA1788104172 | CHD7 | c.6485T= (p.Ile2162=) c.1717-9019T= (n.1717-9019T=) c.6575T= (p.Ile2192=) c.4562T= (p.Ile1521=) c.4112T= (p.Ile1371=) c.3320T= (p.Ile1107=) | |
| 8 | g.60853211T>A | CA461105065 | CHD7 | c.6486T>A (p.Ile2162=) c.1717-9018T>A (n.1717-9018T>A) c.6576T>A (p.Ile2192=) c.4563T>A (p.Ile1521=) c.4113T>A (p.Ile1371=) c.3321T>A (p.Ile1107=) | |
| 8 | g.60853211T>C | CA461105066 | CHD7 | c.6486T>C (p.Ile2162=) c.1717-9018T>C (n.1717-9018T>C) c.6576T>C (p.Ile2192=) c.4563T>C (p.Ile1521=) c.4113T>C (p.Ile1371=) c.3321T>C (p.Ile1107=) | |
| 8 | g.60853211T>G | CA371325422 | CHD7 | c.6486T>G (p.Ile2162Met) c.1717-9018T>G (n.1717-9018T>G) c.6576T>G (p.Ile2192Met) c.4563T>G (p.Ile1521Met) c.4113T>G (p.Ile1371Met) c.3321T>G (p.Ile1107Met) | |
| 8 | g.60853212C>A | CA371325425 | CHD7 | c.6487C>A (p.Gln2163Lys) c.1717-9017C>A (n.1717-9017C>A) c.6577C>A (p.Gln2193Lys) c.4564C>A (p.Gln1522Lys) c.4114C>A (p.Gln1372Lys) c.3322C>A (p.Gln1108Lys) | |
| 8 | g.60853212C>G | CA371325423 | CHD7 | c.6487C>G (p.Gln2163Glu) c.1717-9017C>G (n.1717-9017C>G) c.6577C>G (p.Gln2193Glu) c.4564C>G (p.Gln1522Glu) c.4114C>G (p.Gln1372Glu) c.3322C>G (p.Gln1108Glu) | |
| 8 | g.60853212C>T | CA371325427 | CHD7 | c.6487C>T (p.Gln2163Ter) c.1717-9017C>T (n.1717-9017C>T) c.6577C>T (p.Gln2193Ter) c.4564C>T (p.Gln1522Ter) c.4114C>T (p.Gln1372Ter) c.3322C>T (p.Gln1108Ter) | |
| 8 | g.60853213A>C | CA371325428 | CHD7 | c.6488A>C (p.Gln2163Pro) c.1717-9016A>C (n.1717-9016A>C) c.6578A>C (p.Gln2193Pro) c.4565A>C (p.Gln1522Pro) c.4115A>C (p.Gln1372Pro) c.3323A>C (p.Gln1108Pro) | |
| 8 | g.60853213A>G | CA371325433 | CHD7 | c.6488A>G (p.Gln2163Arg) c.1717-9016A>G (n.1717-9016A>G) c.6578A>G (p.Gln2193Arg) c.4565A>G (p.Gln1522Arg) c.4115A>G (p.Gln1372Arg) c.3323A>G (p.Gln1108Arg) | |
| 8 | g.60853213A>T | CA371325430 | CHD7 | c.6488A>T (p.Gln2163Leu) c.1717-9016A>T (n.1717-9016A>T) c.6578A>T (p.Gln2193Leu) c.4565A>T (p.Gln1522Leu) c.4115A>T (p.Gln1372Leu) c.3323A>T (p.Gln1108Leu) | |
| 8 | g.60853214A>C | CA371325435 | CHD7 | c.6489A>C (p.Gln2163His) c.1717-9015A>C (n.1717-9015A>C) c.6579A>C (p.Gln2193His) c.4566A>C (p.Gln1522His) c.4116A>C (p.Gln1372His) c.3324A>C (p.Gln1108His) | |
| 8 | g.60853214A>G | CA461105067 | CHD7 | c.6489A>G (p.Gln2163=) c.1717-9015A>G (n.1717-9015A>G) c.6579A>G (p.Gln2193=) c.4566A>G (p.Gln1522=) c.4116A>G (p.Gln1372=) c.3324A>G (p.Gln1108=) | gnomAD v4 |
| 8 | g.60853214A>T | CA371325437 | CHD7 | c.6489A>T (p.Gln2163His) c.1717-9015A>T (n.1717-9015A>T) c.6579A>T (p.Gln2193His) c.4566A>T (p.Gln1522His) c.4116A>T (p.Gln1372His) c.3324A>T (p.Gln1108His) | |
| 8 | g.60853215G>A | CA371325439 | CHD7 | c.6490G>A (p.Asp2164Asn) c.1717-9014G>A (n.1717-9014G>A) c.6580G>A (p.Asp2194Asn) c.4567G>A (p.Asp1523Asn) c.4117G>A (p.Asp1373Asn) c.3325G>A (p.Asp1109Asn) | |
| 8 | g.60853215G>C | CA371325441 | CHD7 | c.6490G>C (p.Asp2164His) c.1717-9014G>C (n.1717-9014G>C) c.6580G>C (p.Asp2194His) c.4567G>C (p.Asp1523His) c.4117G>C (p.Asp1373His) c.3325G>C (p.Asp1109His) | |
| 8 | g.60853215G>T | CA371325442 | CHD7 | c.6490G>T (p.Asp2164Tyr) c.1717-9014G>T (n.1717-9014G>T) c.6580G>T (p.Asp2194Tyr) c.4567G>T (p.Asp1523Tyr) c.4117G>T (p.Asp1373Tyr) c.3325G>T (p.Asp1109Tyr) | |
| 8 | g.60853216A>C | CA371325444 | CHD7 | c.6491A>C (p.Asp2164Ala) c.1717-9013A>C (n.1717-9013A>C) c.6581A>C (p.Asp2194Ala) c.4568A>C (p.Asp1523Ala) c.4118A>C (p.Asp1373Ala) c.3326A>C (p.Asp1109Ala) | |
| 8 | g.60853216A>G | CA371325445 | CHD7 | c.6491A>G (p.Asp2164Gly) c.1717-9013A>G (n.1717-9013A>G) c.6581A>G (p.Asp2194Gly) c.4568A>G (p.Asp1523Gly) c.4118A>G (p.Asp1373Gly) c.3326A>G (p.Asp1109Gly) | |
| 8 | g.60853216A>T | CA371325447 | CHD7 | c.6491A>T (p.Asp2164Val) c.1717-9013A>T (n.1717-9013A>T) c.6581A>T (p.Asp2194Val) c.4568A>T (p.Asp1523Val) c.4118A>T (p.Asp1373Val) c.3326A>T (p.Asp1109Val) | |
| 8 | g.60853217T>A | CA371325451 | CHD7 | c.6492T>A (p.Asp2164Glu) c.1717-9012T>A (n.1717-9012T>A) c.6582T>A (p.Asp2194Glu) c.4569T>A (p.Asp1523Glu) c.4119T>A (p.Asp1373Glu) c.3327T>A (p.Asp1109Glu) | ClinVar dbSNP |
| 8 | g.60853217T>C | CA461105068 | CHD7 | c.6492T>C (p.Asp2164=) c.1717-9012T>C (n.1717-9012T>C) c.6582T>C (p.Asp2194=) c.4569T>C (p.Asp1523=) c.4119T>C (p.Asp1373=) c.3327T>C (p.Asp1109=) | dbSNP |
| 8 | g.60853217T>G | CA371325452 | CHD7 | c.6492T>G (p.Asp2164Glu) c.1717-9012T>G (n.1717-9012T>G) c.6582T>G (p.Asp2194Glu) c.4569T>G (p.Asp1523Glu) c.4119T>G (p.Asp1373Glu) c.3327T>G (p.Asp1109Glu) |