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 |
|---|---|---|---|---|---|
| 9 | g.99142619G>A | CA043284 | TGFBR1 | c.682G>A (p.Val228Ile) c.694G>A (p.Val232Ile) c.463G>A (p.Val155Ile) c.451G>A (p.Val151Ile) c.*685G>A (n.*685G>A) c.889G>A (p.Val297Ile) c.658G>A (p.Val220Ile) c.901G>A (p.Val301Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142619G>C | CA374230670 | TGFBR1 | c.682G>C (p.Val228Leu) c.694G>C (p.Val232Leu) c.463G>C (p.Val155Leu) c.451G>C (p.Val151Leu) c.*685G>C (n.*685G>C) c.889G>C (p.Val297Leu) c.658G>C (p.Val220Leu) c.901G>C (p.Val301Leu) | |
| 9 | g.99142619G= | CA1867260109 | TGFBR1 | c.682G= (p.Val228=) c.694G= (p.Val232=) c.463G= (p.Val155=) c.451G= (p.Val151=) c.*685G= (n.*685G=) c.889G= (p.Val297=) c.658G= (p.Val220=) c.901G= (p.Val301=) | |
| 9 | g.99142619G>T | CA374230671 | TGFBR1 | c.682G>T (p.Val228Phe) c.694G>T (p.Val232Phe) c.463G>T (p.Val155Phe) c.451G>T (p.Val151Phe) c.*685G>T (n.*685G>T) c.889G>T (p.Val297Phe) c.658G>T (p.Val220Phe) c.901G>T (p.Val301Phe) | |
| 9 | g.99142620T>A | CA374230672 | TGFBR1 | c.683T>A (p.Val228Asp) c.695T>A (p.Val232Asp) c.464T>A (p.Val155Asp) c.452T>A (p.Val151Asp) c.*686T>A (n.*686T>A) c.890T>A (p.Val297Asp) c.659T>A (p.Val220Asp) c.902T>A (p.Val301Asp) | |
| 9 | g.99142620T>C | CA374230673 | TGFBR1 | c.683T>C (p.Val228Ala) c.695T>C (p.Val232Ala) c.464T>C (p.Val155Ala) c.452T>C (p.Val151Ala) c.*686T>C (n.*686T>C) c.890T>C (p.Val297Ala) c.659T>C (p.Val220Ala) c.902T>C (p.Val301Ala) | |
| 9 | g.99142620T>G | CA374230674 | TGFBR1 | c.683T>G (p.Val228Gly) c.695T>G (p.Val232Gly) c.464T>G (p.Val155Gly) c.452T>G (p.Val151Gly) c.*686T>G (n.*686T>G) c.890T>G (p.Val297Gly) c.659T>G (p.Val220Gly) c.902T>G (p.Val301Gly) | |
| 9 | g.99142621T>A | CA466434479 | TGFBR1 | c.684T>A (p.Val228=) c.696T>A (p.Val232=) c.465T>A (p.Val155=) c.453T>A (p.Val151=) c.*687T>A (n.*687T>A) c.891T>A (p.Val297=) c.660T>A (p.Val220=) c.903T>A (p.Val301=) | |
| 9 | g.99142621T>C | CA466434480 | TGFBR1 | c.684T>C (p.Val228=) c.696T>C (p.Val232=) c.465T>C (p.Val155=) c.453T>C (p.Val151=) c.*687T>C (n.*687T>C) c.891T>C (p.Val297=) c.660T>C (p.Val220=) c.903T>C (p.Val301=) | COSMIC |
| 9 | g.99142621T>G | CA466434481 | TGFBR1 | c.684T>G (p.Val228=) c.696T>G (p.Val232=) c.465T>G (p.Val155=) c.453T>G (p.Val151=) c.*687T>G (n.*687T>G) c.891T>G (p.Val297=) c.660T>G (p.Val220=) c.903T>G (p.Val301=) | |
| 9 | g.99142622A= | CA1867260112 | TGFBR1 | c.685A= (p.Thr229=) c.697A= (p.Thr233=) c.466A= (p.Thr156=) c.454A= (p.Thr152=) c.*688A= (n.*688A=) c.892A= (p.Thr298=) c.661A= (p.Thr221=) c.904A= (p.Thr302=) | |
| 9 | g.99142622A>C | CA374230675 | TGFBR1 | c.685A>C (p.Thr229Pro) c.697A>C (p.Thr233Pro) c.466A>C (p.Thr156Pro) c.454A>C (p.Thr152Pro) c.*688A>C (n.*688A>C) c.892A>C (p.Thr298Pro) c.661A>C (p.Thr221Pro) c.904A>C (p.Thr302Pro) | |
| 9 | g.99142622A>G | CA043294 | TGFBR1 | c.685A>G (p.Thr229Ala) c.697A>G (p.Thr233Ala) c.466A>G (p.Thr156Ala) c.454A>G (p.Thr152Ala) c.*688A>G (n.*688A>G) c.892A>G (p.Thr298Ala) c.661A>G (p.Thr221Ala) c.904A>G (p.Thr302Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99142622A>T | CA374230676 | TGFBR1 | c.685A>T (p.Thr229Ser) c.697A>T (p.Thr233Ser) c.466A>T (p.Thr156Ser) c.454A>T (p.Thr152Ser) c.*688A>T (n.*688A>T) c.892A>T (p.Thr298Ser) c.661A>T (p.Thr221Ser) c.904A>T (p.Thr302Ser) | |
| 9 | g.99142623C>A | CA374230677 | TGFBR1 | c.686C>A (p.Thr229Asn) c.698C>A (p.Thr233Asn) c.467C>A (p.Thr156Asn) c.455C>A (p.Thr152Asn) c.*689C>A (n.*689C>A) c.893C>A (p.Thr298Asn) c.662C>A (p.Thr221Asn) c.905C>A (p.Thr302Asn) | |
| 9 | g.99142623C>G | CA374230678 | TGFBR1 | c.686C>G (p.Thr229Ser) c.698C>G (p.Thr233Ser) c.467C>G (p.Thr156Ser) c.455C>G (p.Thr152Ser) c.*689C>G (n.*689C>G) c.893C>G (p.Thr298Ser) c.662C>G (p.Thr221Ser) c.905C>G (p.Thr302Ser) | |
| 9 | g.99142623C>T | CA374230679 | TGFBR1 | c.686C>T (p.Thr229Ile) c.698C>T (p.Thr233Ile) c.467C>T (p.Thr156Ile) c.455C>T (p.Thr152Ile) c.*689C>T (n.*689C>T) c.893C>T (p.Thr298Ile) c.662C>T (p.Thr221Ile) c.905C>T (p.Thr302Ile) | dbSNP COSMIC |
| 9 | g.99142624T>A | CA466434484 | TGFBR1 | c.687T>A (p.Thr229=) c.699T>A (p.Thr233=) c.468T>A (p.Thr156=) c.456T>A (p.Thr152=) c.*690T>A (n.*690T>A) c.894T>A (p.Thr298=) c.663T>A (p.Thr221=) c.906T>A (p.Thr302=) | |
| 9 | g.99142624T>C | CA466434485 | TGFBR1 | c.687T>C (p.Thr229=) c.699T>C (p.Thr233=) c.468T>C (p.Thr156=) c.456T>C (p.Thr152=) c.*690T>C (n.*690T>C) c.894T>C (p.Thr298=) c.663T>C (p.Thr221=) c.906T>C (p.Thr302=) | |
| 9 | g.99142624T>G | CA466434486 | TGFBR1 | c.687T>G (p.Thr229=) c.699T>G (p.Thr233=) c.468T>G (p.Thr156=) c.456T>G (p.Thr152=) c.*690T>G (n.*690T>G) c.894T>G (p.Thr298=) c.663T>G (p.Thr221=) c.906T>G (p.Thr302=) | |
| 9 | g.99142625G>A | CA196891585 | TGFBR1 | c.688G>A (p.Val230Met) c.700G>A (p.Val234Met) c.469G>A (p.Val157Met) c.457G>A (p.Val153Met) c.*691G>A (n.*691G>A) c.895G>A (p.Val299Met) c.664G>A (p.Val222Met) c.907G>A (p.Val303Met) | ClinVar dbSNP |
| 9 | g.99142625G>C | CA374230681 | TGFBR1 | c.688G>C (p.Val230Leu) c.700G>C (p.Val234Leu) c.469G>C (p.Val157Leu) c.457G>C (p.Val153Leu) c.*691G>C (n.*691G>C) c.895G>C (p.Val299Leu) c.664G>C (p.Val222Leu) c.907G>C (p.Val303Leu) | |
| 9 | g.99142625G= | CA1867260116 | TGFBR1 | c.688G= (p.Val230=) c.700G= (p.Val234=) c.469G= (p.Val157=) c.457G= (p.Val153=) c.*691G= (n.*691G=) c.895G= (p.Val299=) c.664G= (p.Val222=) c.907G= (p.Val303=) | |
| 9 | g.99142625G>T | CA374230680 | TGFBR1 | c.688G>T (p.Val230Leu) c.700G>T (p.Val234Leu) c.469G>T (p.Val157Leu) c.457G>T (p.Val153Leu) c.*691G>T (n.*691G>T) c.895G>T (p.Val299Leu) c.664G>T (p.Val222Leu) c.907G>T (p.Val303Leu) | ClinVar dbSNP |
| 9 | g.99142626T>A | CA374230684 | TGFBR1 | c.689T>A (p.Val230Glu) c.701T>A (p.Val234Glu) c.470T>A (p.Val157Glu) c.458T>A (p.Val153Glu) c.*692T>A (n.*692T>A) c.896T>A (p.Val299Glu) c.665T>A (p.Val222Glu) c.908T>A (p.Val303Glu) | |
| 9 | g.99142626T>C | CA374230682 | TGFBR1 | c.689T>C (p.Val230Ala) c.701T>C (p.Val234Ala) c.470T>C (p.Val157Ala) c.458T>C (p.Val153Ala) c.*692T>C (n.*692T>C) c.896T>C (p.Val299Ala) c.665T>C (p.Val222Ala) c.908T>C (p.Val303Ala) | ClinVar |
| 9 | g.99142626T>G | CA374230683 | TGFBR1 | c.689T>G (p.Val230Gly) c.701T>G (p.Val234Gly) c.470T>G (p.Val157Gly) c.458T>G (p.Val153Gly) c.*692T>G (n.*692T>G) c.896T>G (p.Val299Gly) c.665T>G (p.Val222Gly) c.908T>G (p.Val303Gly) | |
| 9 | g.99142627G>A | CA043306 | TGFBR1 | c.690G>A (p.Val230=) c.702G>A (p.Val234=) c.471G>A (p.Val157=) c.459G>A (p.Val153=) c.*693G>A (n.*693G>A) c.897G>A (p.Val299=) c.666G>A (p.Val222=) c.909G>A (p.Val303=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142627G>C | CA466434488 | TGFBR1 | c.690G>C (p.Val230=) c.702G>C (p.Val234=) c.471G>C (p.Val157=) c.459G>C (p.Val153=) c.*693G>C (n.*693G>C) c.897G>C (p.Val299=) c.666G>C (p.Val222=) c.909G>C (p.Val303=) | |
| 9 | g.99142627G= | CA1867260123 | TGFBR1 | c.690G= (p.Val230=) c.702G= (p.Val234=) c.471G= (p.Val157=) c.459G= (p.Val153=) c.*693G= (n.*693G=) c.897G= (p.Val299=) c.666G= (p.Val222=) c.909G= (p.Val303=) | |
| 9 | g.99142627G>T | CA466434487 | TGFBR1 | c.690G>T (p.Val230=) c.702G>T (p.Val234=) c.471G>T (p.Val157=) c.459G>T (p.Val153=) c.*693G>T (n.*693G>T) c.897G>T (p.Val299=) c.666G>T (p.Val222=) c.909G>T (p.Val303=) | |
| 9 | g.99142628G>A | CA374230685 | TGFBR1 | c.691G>A (p.Glu231Lys) c.703G>A (p.Glu235Lys) c.472G>A (p.Glu158Lys) c.460G>A (p.Glu154Lys) c.*694G>A (n.*694G>A) c.898G>A (p.Glu300Lys) c.667G>A (p.Glu223Lys) c.910G>A (p.Glu304Lys) | |
| 9 | g.99142628G>C | CA374230686 | TGFBR1 | c.691G>C (p.Glu231Gln) c.703G>C (p.Glu235Gln) c.472G>C (p.Glu158Gln) c.460G>C (p.Glu154Gln) c.*694G>C (n.*694G>C) c.898G>C (p.Glu300Gln) c.667G>C (p.Glu223Gln) c.910G>C (p.Glu304Gln) | |
| 9 | g.99142628G= | CA1867260128 | TGFBR1 | c.691G= (p.Glu231=) c.703G= (p.Glu235=) c.472G= (p.Glu158=) c.460G= (p.Glu154=) c.*694G= (n.*694G=) c.898G= (p.Glu300=) c.667G= (p.Glu223=) c.910G= (p.Glu304=) | |
| 9 | g.99142628G>T | CA374230687 | TGFBR1 | c.691G>T (p.Glu231Ter) c.703G>T (p.Glu235Ter) c.472G>T (p.Glu158Ter) c.460G>T (p.Glu154Ter) c.*694G>T (n.*694G>T) c.898G>T (p.Glu300Ter) c.667G>T (p.Glu223Ter) c.910G>T (p.Glu304Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99142629A>C | CA374230690 | TGFBR1 | c.692A>C (p.Glu231Ala) c.704A>C (p.Glu235Ala) c.473A>C (p.Glu158Ala) c.461A>C (p.Glu154Ala) c.*695A>C (n.*695A>C) c.899A>C (p.Glu300Ala) c.668A>C (p.Glu223Ala) c.911A>C (p.Glu304Ala) | |
| 9 | g.99142629A>G | CA374230688 | TGFBR1 | c.692A>G (p.Glu231Gly) c.704A>G (p.Glu235Gly) c.473A>G (p.Glu158Gly) c.461A>G (p.Glu154Gly) c.*695A>G (n.*695A>G) c.899A>G (p.Glu300Gly) c.668A>G (p.Glu223Gly) c.911A>G (p.Glu304Gly) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99142629A>T | CA374230689 | TGFBR1 | c.692A>T (p.Glu231Val) c.704A>T (p.Glu235Val) c.473A>T (p.Glu158Val) c.461A>T (p.Glu154Val) c.*695A>T (n.*695A>T) c.899A>T (p.Glu300Val) c.668A>T (p.Glu223Val) c.911A>T (p.Glu304Val) | |
| 9 | g.99142630A>C | CA374230691 | TGFBR1 | c.693A>C (p.Glu231Asp) c.705A>C (p.Glu235Asp) c.474A>C (p.Glu158Asp) c.462A>C (p.Glu154Asp) c.*696A>C (n.*696A>C) c.900A>C (p.Glu300Asp) c.669A>C (p.Glu223Asp) c.912A>C (p.Glu304Asp) | |
| 9 | g.99142630A>G | CA466434489 | TGFBR1 | c.693A>G (p.Glu231=) c.705A>G (p.Glu235=) c.474A>G (p.Glu158=) c.462A>G (p.Glu154=) c.*696A>G (n.*696A>G) c.900A>G (p.Glu300=) c.669A>G (p.Glu223=) c.912A>G (p.Glu304=) | |
| 9 | g.99142630A>T | CA374230692 | TGFBR1 | c.693A>T (p.Glu231Asp) c.705A>T (p.Glu235Asp) c.474A>T (p.Glu158Asp) c.462A>T (p.Glu154Asp) c.*696A>T (n.*696A>T) c.900A>T (p.Glu300Asp) c.669A>T (p.Glu223Asp) c.912A>T (p.Glu304Asp) | |
| 9 | g.99142631G>A | CA374230693 | TGFBR1 | c.694G>A (p.Gly232Arg) c.706G>A (p.Gly236Arg) c.475G>A (p.Gly159Arg) c.463G>A (p.Gly155Arg) c.*697G>A (n.*697G>A) c.901G>A (p.Gly301Arg) c.670G>A (p.Gly224Arg) c.913G>A (p.Gly305Arg) | |
| 9 | g.99142631G>C | CA374230694 | TGFBR1 | c.694G>C (p.Gly232Arg) c.706G>C (p.Gly236Arg) c.475G>C (p.Gly159Arg) c.463G>C (p.Gly155Arg) c.*697G>C (n.*697G>C) c.901G>C (p.Gly301Arg) c.670G>C (p.Gly224Arg) c.913G>C (p.Gly305Arg) | dbSNP |
| 9 | g.99142631G>T | CA374230695 | TGFBR1 | c.694G>T (p.Gly232Ter) c.706G>T (p.Gly236Ter) c.475G>T (p.Gly159Ter) c.463G>T (p.Gly155Ter) c.*697G>T (n.*697G>T) c.901G>T (p.Gly301Ter) c.670G>T (p.Gly224Ter) c.913G>T (p.Gly305Ter) | |
| 9 | g.99142632G>A | CA374230698 | TGFBR1 | c.695G>A (p.Gly232Glu) c.707G>A (p.Gly236Glu) c.476G>A (p.Gly159Glu) c.464G>A (p.Gly155Glu) c.*698G>A (n.*698G>A) c.902G>A (p.Gly301Glu) c.671G>A (p.Gly224Glu) c.914G>A (p.Gly305Glu) | |
| 9 | g.99142632G>C | CA374230696 | TGFBR1 | c.695G>C (p.Gly232Ala) c.707G>C (p.Gly236Ala) c.476G>C (p.Gly159Ala) c.464G>C (p.Gly155Ala) c.*698G>C (n.*698G>C) c.902G>C (p.Gly301Ala) c.671G>C (p.Gly224Ala) c.914G>C (p.Gly305Ala) | |
| 9 | g.99142632G>T | CA374230697 | TGFBR1 | c.695G>T (p.Gly232Val) c.707G>T (p.Gly236Val) c.476G>T (p.Gly159Val) c.464G>T (p.Gly155Val) c.*698G>T (n.*698G>T) c.902G>T (p.Gly301Val) c.671G>T (p.Gly224Val) c.914G>T (p.Gly305Val) | |
| 9 | g.99142633A= | CA1867260133 | TGFBR1 | c.696A= (p.Gly232=) c.708A= (p.Gly236=) c.477A= (p.Gly159=) c.465A= (p.Gly155=) c.*699A= (n.*699A=) c.903A= (p.Gly301=) c.672A= (p.Gly224=) c.915A= (p.Gly305=) | |
| 9 | g.99142633A>C | CA466434490 | TGFBR1 | c.696A>C (p.Gly232=) c.708A>C (p.Gly236=) c.477A>C (p.Gly159=) c.465A>C (p.Gly155=) c.*699A>C (n.*699A>C) c.903A>C (p.Gly301=) c.672A>C (p.Gly224=) c.915A>C (p.Gly305=) | |
| 9 | g.99142633A>G | CA466434492 | TGFBR1 | c.696A>G (p.Gly232=) c.708A>G (p.Gly236=) c.477A>G (p.Gly159=) c.465A>G (p.Gly155=) c.*699A>G (n.*699A>G) c.903A>G (p.Gly301=) c.672A>G (p.Gly224=) c.915A>G (p.Gly305=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |