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 |
|---|---|---|---|---|---|
| 19 | g.41332245G>A | CA507554565 | TGFB1 | c.897C>T (p.Tyr299=) c.749C>T (p.Thr250Ile) c.671C>T (p.Thr224Ile) c.185C>T n.209C>T c.900C>T (p.Tyr300=) | gnomAD v4 |
| 19 | g.41332245G>C | CA16607838 | TGFB1 | c.897C>G (p.Tyr299Ter) c.749C>G (p.Thr250Arg) c.671C>G (p.Thr224Arg) c.185C>G n.209C>G c.900C>G (p.Tyr300Ter) | ClinVar dbSNP |
| 19 | g.41332245G= | CA2336416468 | TGFB1 | c.897C= (p.Tyr299=) c.749C= (p.Thr250=) c.671C= (p.Thr224=) c.185C= n.209C= c.900C= (p.Tyr300=) | |
| 19 | g.41332245G>T | CA405998622 | TGFB1 | c.897C>A (p.Tyr299Ter) c.749C>A (p.Thr250Lys) c.671C>A (p.Thr224Lys) c.185C>A n.209C>A c.900C>A (p.Tyr300Ter) | |
| 19 | g.41332246T>A | CA405998627 | TGFB1 | c.896A>T (p.Tyr299Phe) c.748A>T (p.Thr250Ser) c.670A>T (p.Thr224Ser) c.184A>T n.208A>T c.899A>T (p.Tyr300Phe) | |
| 19 | g.41332246T>C | CA405998626 | TGFB1 | c.896A>G (p.Tyr299Cys) c.748A>G (p.Thr250Ala) c.670A>G (p.Thr224Ala) c.184A>G n.208A>G c.899A>G (p.Tyr300Cys) | |
| 19 | g.41332246T>G | CA405998624 | TGFB1 | c.896A>C (p.Tyr299Ser) c.748A>C (p.Thr250Pro) c.670A>C (p.Thr224Pro) c.184A>C n.208A>C c.899A>C (p.Tyr300Ser) | |
| 19 | g.41332247A>C | CA405998629 | TGFB1 | c.895T>G (p.Tyr299Asp) c.747T>G (p.Cys249Trp) c.669T>G (p.Cys223Trp) c.183T>G n.207T>G c.898T>G (p.Tyr300Asp) | |
| 19 | g.41332247A>G | CA405998630 | TGFB1 | c.895T>C (p.Tyr299His) c.747T>C (p.Cys249=) c.669T>C (p.Cys223=) c.183T>C n.207T>C c.898T>C (p.Tyr300His) | |
| 19 | g.41332247A>T | CA405998632 | TGFB1 | c.895T>A (p.Tyr299Asn) c.747T>A (p.Cys249Ter) c.669T>A (p.Cys223Ter) c.183T>A n.207T>A c.898T>A (p.Tyr300Asn) | |
| 19 | g.41332248C>A | CA507554566 | TGFB1 | c.894G>T (p.Leu298=) c.746G>T (p.Cys249Phe) c.668G>T (p.Cys223Phe) c.182G>T n.206G>T c.897G>T (p.Leu299=) | |
| 19 | g.41332248C= | CA2336416469 | TGFB1 | c.894G= (p.Leu298=) c.746G= (p.Cys249=) c.668G= (p.Cys223=) c.182G= n.206G= c.897G= (p.Leu299=) | |
| 19 | g.41332248C>G | CA507554567 | TGFB1 | c.894G>C (p.Leu298=) c.746G>C (p.Cys249Ser) c.668G>C (p.Cys223Ser) c.182G>C n.206G>C c.897G>C (p.Leu299=) | |
| 19 | g.41332248C>T | CA9459954 | TGFB1 | c.894G>A (p.Leu298=) c.746G>A (p.Cys249Tyr) c.668G>A (p.Cys223Tyr) c.182G>A n.206G>A c.897G>A (p.Leu299=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41332249A>C | CA405998635 | TGFB1 | c.893T>G (p.Leu298Arg) c.745T>G (p.Cys249Gly) c.667T>G (p.Cys223Gly) c.181T>G n.205T>G c.896T>G (p.Leu299Arg) | |
| 19 | g.41332249A>G | CA405998636 | TGFB1 | c.893T>C (p.Leu298Pro) c.745T>C (p.Cys249Arg) c.667T>C (p.Cys223Arg) c.181T>C n.205T>C c.896T>C (p.Leu299Pro) | ClinVar dbSNP |
| 19 | g.41332249A>T | CA405998638 | TGFB1 | c.893T>A (p.Leu298Gln) c.745T>A (p.Cys249Ser) c.667T>A (p.Cys223Ser) c.181T>A n.205T>A c.896T>A (p.Leu299Gln) | gnomAD v4 |
| 19 | g.41332250G>A | CA9459955 | TGFB1 | c.892C>T (p.Leu298=) c.744C>T (p.Ser248=) c.666C>T (p.Ser222=) c.180C>T n.204C>T c.895C>T (p.Leu299=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41332250G>C | CA405998640 | TGFB1 | c.892C>G (p.Leu298Val) c.744C>G (p.Ser248Arg) c.666C>G (p.Ser222Arg) c.180C>G n.204C>G c.895C>G (p.Leu299Val) | |
| 19 | g.41332250G= | CA2336416470 | TGFB1 | c.892C= (p.Leu298=) c.744C= (p.Ser248=) c.666C= (p.Ser222=) c.180C= n.204C= c.895C= (p.Leu299=) | |
| 19 | g.41332250G>T | CA405998642 | TGFB1 | c.892C>A (p.Leu298Met) c.744C>A (p.Ser248Arg) c.666C>A (p.Ser222Arg) c.180C>A n.204C>A c.895C>A (p.Leu299Met) | gnomAD v4 |
| 19 | g.41332251C>A | CA405998644 | TGFB1 | c.891G>T (p.Gln297His) c.743G>T (p.Ser248Ile) c.665G>T (p.Ser222Ile) c.179G>T n.203G>T c.894G>T (p.Gln298His) | |
| 19 | g.41332251C>G | CA405998646 | TGFB1 | c.891G>C (p.Gln297His) c.743G>C (p.Ser248Thr) c.665G>C (p.Ser222Thr) c.179G>C n.203G>C c.894G>C (p.Gln298His) | |
| 19 | g.41332251C>T | CA507554568 | TGFB1 | c.891G>A (p.Gln297=) c.743G>A (p.Ser248Asn) c.665G>A (p.Ser222Asn) c.179G>A n.203G>A c.894G>A (p.Gln298=) | |
| 19 | g.41332252T>A | CA405998651 | TGFB1 | c.890A>T (p.Gln297Leu) c.742A>T (p.Ser248Cys) c.664A>T (p.Ser222Cys) c.178A>T n.202A>T c.893A>T (p.Gln298Leu) | |
| 19 | g.41332252T>C | CA405998647 | TGFB1 | c.890A>G (p.Gln297Arg) c.742A>G (p.Ser248Gly) c.664A>G (p.Ser222Gly) c.178A>G n.202A>G c.893A>G (p.Gln298Arg) | gnomAD v4 |
| 19 | g.41332252T>G | CA405998649 | TGFB1 | c.890A>C (p.Gln297Pro) c.742A>C (p.Ser248Arg) c.664A>C (p.Ser222Arg) c.178A>C n.202A>C c.893A>C (p.Gln298Pro) | |
| 19 | g.41332253G>A | CA405998653 | TGFB1 | c.889C>T (p.Gln297Ter) c.741C>T (p.Gly247=) c.663C>T (p.Gly221=) c.177C>T n.201C>T c.892C>T (p.Gln298Ter) | COSMIC |
| 19 | g.41332253G>C | CA405998655 | TGFB1 | c.889C>G (p.Gln297Glu) c.741C>G (p.Gly247=) c.663C>G (p.Gly221=) c.177C>G n.201C>G c.892C>G (p.Gln298Glu) | |
| 19 | g.41332253G>T | CA405998656 | TGFB1 | c.889C>A (p.Gln297Lys) c.741C>A (p.Gly247=) c.663C>A (p.Gly221=) c.177C>A n.201C>A c.892C>A (p.Gln298Lys) | |
| 19 | g.41332254C>A | CA507554569 | TGFB1 | c.888G>T (p.Arg296=) c.740G>T (p.Gly247Val) c.662G>T (p.Gly221Val) c.176G>T n.200G>T c.891G>T (p.Arg297=) | |
| 19 | g.41332254C>G | CA507554570 | TGFB1 | c.888G>C (p.Arg296=) c.740G>C (p.Gly247Ala) c.662G>C (p.Gly221Ala) c.176G>C n.200G>C c.891G>C (p.Arg297=) | |
| 19 | g.41332254C>T | CA507554571 | TGFB1 | c.888G>A (p.Arg296=) c.740G>A (p.Gly247Asp) c.662G>A (p.Gly221Asp) c.176G>A n.200G>A c.891G>A (p.Arg297=) | gnomAD v4 |
| 19 | g.41332255C>A | CA405998658 | TGFB1 | c.887G>T (p.Arg296Leu) c.739G>T (p.Gly247Cys) c.661G>T (p.Gly221Cys) c.175G>T n.199G>T c.890G>T (p.Arg297Leu) | |
| 19 | g.41332255C= | CA2336416471 | TGFB1 | c.887G= (p.Arg296=) c.739G= (p.Gly247=) c.661G= (p.Gly221=) c.175G= n.199G= c.890G= (p.Arg297=) | |
| 19 | g.41332255C>G | CA405998660 | TGFB1 | c.887G>C (p.Arg296Pro) c.739G>C (p.Gly247Arg) c.661G>C (p.Gly221Arg) c.175G>C n.199G>C c.890G>C (p.Arg297Pro) | COSMIC |
| 19 | g.41332255C>T | CA9459956 | TGFB1 | c.887G>A (p.Arg296Gln) c.739G>A (p.Gly247Ser) c.661G>A (p.Gly221Ser) c.175G>A n.199G>A c.890G>A (p.Arg297Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41332256G>A | CA405998661 | TGFB1 | c.886C>T (p.Arg296Trp) c.738C>T (p.Cys246=) c.660C>T (p.Cys220=) c.174C>T n.198C>T c.889C>T (p.Arg297Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41332256G>C | CA405998663 | TGFB1 | c.886C>G (p.Arg296Gly) c.738C>G (p.Cys246Trp) c.660C>G (p.Cys220Trp) c.174C>G n.198C>G c.889C>G (p.Arg297Gly) | ClinVar dbSNP |
| 19 | g.41332256G= | CA2336416472 | TGFB1 | c.886C= (p.Arg296=) c.738C= (p.Cys246=) c.660C= (p.Cys220=) c.174C= n.198C= c.889C= (p.Arg297=) | |
| 19 | g.41332256G>T | CA507554572 | TGFB1 | c.886C>A (p.Arg296=) c.738C>A (p.Cys246Ter) c.660C>A (p.Cys220Ter) c.174C>A n.198C>A c.889C>A (p.Arg297=) | dbSNP gnomAD v4 |
| 19 | g.41332257C>A | CA507554573 | TGFB1 | c.885G>T (p.Val295=) c.737G>T (p.Cys246Phe) c.659G>T (p.Cys220Phe) c.173G>T n.197G>T c.888G>T (p.Val296=) | dbSNP |
| 19 | g.41332257C= | CA2336416473 | TGFB1 | c.885G= (p.Val295=) c.737G= (p.Cys246=) c.659G= (p.Cys220=) c.173G= n.197G= c.888G= (p.Val296=) | |
| 19 | g.41332257C>G | CA507554574 | TGFB1 | c.885G>C (p.Val295=) c.737G>C (p.Cys246Ser) c.659G>C (p.Cys220Ser) c.173G>C n.197G>C c.888G>C (p.Val296=) | |
| 19 | g.41332257C>T | CA507554575 | TGFB1 | c.885G>A (p.Val295=) c.737G>A (p.Cys246Tyr) c.659G>A (p.Cys220Tyr) c.173G>A n.197G>A c.888G>A (p.Val296=) | gnomAD v4 |
| 19 | g.41332258A>C | CA405998665 | TGFB1 | c.884T>G (p.Val295Gly) c.736T>G (p.Cys246Gly) c.658T>G (p.Cys220Gly) c.172T>G n.196T>G c.887T>G (p.Val296Gly) | |
| 19 | g.41332258A>G | CA405998667 | TGFB1 | c.884T>C (p.Val295Ala) c.736T>C (p.Cys246Arg) c.658T>C (p.Cys220Arg) c.172T>C n.196T>C c.887T>C (p.Val296Ala) | |
| 19 | g.41332258A>T | CA405998668 | TGFB1 | c.884T>A (p.Val295Glu) c.736T>A (p.Cys246Ser) c.658T>A (p.Cys220Ser) c.172T>A n.196T>A c.887T>A (p.Val296Glu) | |
| 19 | g.41332259C>A | CA405998673 | TGFB1 | c.883G>T (p.Val295Leu) c.735G>T (p.Ala245=) c.657G>T (p.Ala219=) c.171G>T n.195G>T c.886G>T (p.Val296Leu) | |
| 19 | g.41332259C>G | CA405998671 | TGFB1 | c.883G>C (p.Val295Leu) c.735G>C (p.Ala245=) c.657G>C (p.Ala219=) c.171G>C n.195G>C c.886G>C (p.Val296Leu) |