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.99132686G>A | CA374228313 | TGFBR1 | c.314G>A (p.Gly105Asp) c.326G>A (p.Gly109Asp) c.136+3586G>A (n.136+3586G>A) c.*317G>A (n.*317G>A) c.521G>A (p.Gly174Asp) c.343+3586G>A (n.343+3586G>A) c.533G>A (p.Gly178Asp) | |
| 9 | g.99132686G>C | CA374228314 | TGFBR1 | c.314G>C (p.Gly105Ala) c.326G>C (p.Gly109Ala) c.136+3586G>C (n.136+3586G>C) c.*317G>C (n.*317G>C) c.521G>C (p.Gly174Ala) c.343+3586G>C (n.343+3586G>C) c.533G>C (p.Gly178Ala) | |
| 9 | g.99132686G= | CA1867274729 | TGFBR1 | c.314G= (p.Gly105=) c.326G= (p.Gly109=) c.136+3586G= (n.136+3586G=) c.*317G= (n.*317G=) c.521G= (p.Gly174=) c.343+3586G= (n.343+3586G=) c.533G= (p.Gly178=) | |
| 9 | g.99132686G>T | CA008534 | TGFBR1 | c.314G>T (p.Gly105Val) c.326G>T (p.Gly109Val) c.136+3586G>T (n.136+3586G>T) c.*317G>T (n.*317G>T) c.521G>T (p.Gly174Val) c.343+3586G>T (n.343+3586G>T) c.533G>T (p.Gly178Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99132687T>A | CA466648130 | TGFBR1 | c.315T>A (p.Gly105=) c.327T>A (p.Gly109=) c.136+3587T>A (n.136+3587T>A) c.*318T>A (n.*318T>A) c.522T>A (p.Gly174=) c.343+3587T>A (n.343+3587T>A) c.534T>A (p.Gly178=) | |
| 9 | g.99132687T>C | CA466648131 | TGFBR1 | c.315T>C (p.Gly105=) c.327T>C (p.Gly109=) c.136+3587T>C (n.136+3587T>C) c.*318T>C (n.*318T>C) c.522T>C (p.Gly174=) c.343+3587T>C (n.343+3587T>C) c.534T>C (p.Gly178=) | |
| 9 | g.99132687T>G | CA466648132 | TGFBR1 | c.315T>G (p.Gly105=) c.327T>G (p.Gly109=) c.136+3587T>G (n.136+3587T>G) c.*318T>G (n.*318T>G) c.522T>G (p.Gly174=) c.343+3587T>G (n.343+3587T>G) c.534T>G (p.Gly178=) | |
| 9 | g.99132688A= | CA1867274735 | TGFBR1 | c.316A= (p.Thr106=) c.328A= (p.Thr110=) c.136+3588A= (n.136+3588A=) c.*319A= (n.*319A=) c.523A= (p.Thr175=) c.343+3588A= (n.343+3588A=) c.535A= (p.Thr179=) | |
| 9 | g.99132688A>C | CA374228316 | TGFBR1 | c.316A>C (p.Thr106Pro) c.328A>C (p.Thr110Pro) c.136+3588A>C (n.136+3588A>C) c.*319A>C (n.*319A>C) c.523A>C (p.Thr175Pro) c.343+3588A>C (n.343+3588A>C) c.535A>C (p.Thr179Pro) | |
| 9 | g.99132688A>G | CA374228315 | TGFBR1 | c.316A>G (p.Thr106Ala) c.328A>G (p.Thr110Ala) c.136+3588A>G (n.136+3588A>G) c.*319A>G (n.*319A>G) c.523A>G (p.Thr175Ala) c.343+3588A>G (n.343+3588A>G) c.535A>G (p.Thr179Ala) | gnomAD v4 |
| 9 | g.99132688A>T | CA196885718 | TGFBR1 | c.316A>T (p.Thr106Ser) c.328A>T (p.Thr110Ser) c.136+3588A>T (n.136+3588A>T) c.*319A>T (n.*319A>T) c.523A>T (p.Thr175Ser) c.343+3588A>T (n.343+3588A>T) c.535A>T (p.Thr179Ser) | dbSNP gnomAD v4 |
| 9 | g.99132689C>A | CA374228318 | TGFBR1 | c.317C>A (p.Thr106Asn) c.329C>A (p.Thr110Asn) c.136+3589C>A (n.136+3589C>A) c.*320C>A (n.*320C>A) c.524C>A (p.Thr175Asn) c.343+3589C>A (n.343+3589C>A) c.536C>A (p.Thr179Asn) | |
| 9 | g.99132689C>G | CA374228319 | TGFBR1 | c.317C>G (p.Thr106Ser) c.329C>G (p.Thr110Ser) c.136+3589C>G (n.136+3589C>G) c.*320C>G (n.*320C>G) c.524C>G (p.Thr175Ser) c.343+3589C>G (n.343+3589C>G) c.536C>G (p.Thr179Ser) | |
| 9 | g.99132689C>T | CA374228321 | TGFBR1 | c.317C>T (p.Thr106Ile) c.329C>T (p.Thr110Ile) c.136+3589C>T (n.136+3589C>T) c.*320C>T (n.*320C>T) c.524C>T (p.Thr175Ile) c.343+3589C>T (n.343+3589C>T) c.536C>T (p.Thr179Ile) | dbSNP |
| 9 | g.99132690T>A | CA466648135 | TGFBR1 | c.318T>A (p.Thr106=) c.330T>A (p.Thr110=) c.136+3590T>A (n.136+3590T>A) c.*321T>A (n.*321T>A) c.525T>A (p.Thr175=) c.343+3590T>A (n.343+3590T>A) c.537T>A (p.Thr179=) | ClinVar dbSNP |
| 9 | g.99132690T>C | CA466648136 | TGFBR1 | c.318T>C (p.Thr106=) c.330T>C (p.Thr110=) c.136+3590T>C (n.136+3590T>C) c.*321T>C (n.*321T>C) c.525T>C (p.Thr175=) c.343+3590T>C (n.343+3590T>C) c.537T>C (p.Thr179=) | |
| 9 | g.99132690T>G | CA466648137 | TGFBR1 | c.318T>G (p.Thr106=) c.330T>G (p.Thr110=) c.136+3590T>G (n.136+3590T>G) c.*321T>G (n.*321T>G) c.525T>G (p.Thr175=) c.343+3590T>G (n.343+3590T>G) c.537T>G (p.Thr179=) | |
| 9 | g.99132690T= | CA1867274741 | TGFBR1 | c.318T= (p.Thr106=) c.330T= (p.Thr110=) c.136+3590T= (n.136+3590T=) c.*321T= (n.*321T=) c.525T= (p.Thr175=) c.343+3590T= (n.343+3590T=) c.537T= (p.Thr179=) | |
| 9 | g.99132691A>C | CA374228322 | TGFBR1 | c.319A>C (p.Thr107Pro) c.331A>C (p.Thr111Pro) c.136+3591A>C (n.136+3591A>C) c.*322A>C (n.*322A>C) c.526A>C (p.Thr176Pro) c.343+3591A>C (n.343+3591A>C) c.538A>C (p.Thr180Pro) | |
| 9 | g.99132691A>G | CA374228323 | TGFBR1 | c.319A>G (p.Thr107Ala) c.331A>G (p.Thr111Ala) c.136+3591A>G (n.136+3591A>G) c.*322A>G (n.*322A>G) c.526A>G (p.Thr176Ala) c.343+3591A>G (n.343+3591A>G) c.538A>G (p.Thr180Ala) | |
| 9 | g.99132691A>T | CA374228324 | TGFBR1 | c.319A>T (p.Thr107Ser) c.331A>T (p.Thr111Ser) c.136+3591A>T (n.136+3591A>T) c.*322A>T (n.*322A>T) c.526A>T (p.Thr176Ser) c.343+3591A>T (n.343+3591A>T) c.538A>T (p.Thr180Ser) | |
| 9 | g.99132692C>A | CA374228325 | TGFBR1 | c.320C>A (p.Thr107Lys) c.332C>A (p.Thr111Lys) c.136+3592C>A (n.136+3592C>A) c.*323C>A (n.*323C>A) c.527C>A (p.Thr176Lys) c.343+3592C>A (n.343+3592C>A) c.539C>A (p.Thr180Lys) | |
| 9 | g.99132692C= | CA1867274750 | TGFBR1 | c.320C= (p.Thr107=) c.332C= (p.Thr111=) c.136+3592C= (n.136+3592C=) c.*323C= (n.*323C=) c.527C= (p.Thr176=) c.343+3592C= (n.343+3592C=) c.539C= (p.Thr180=) | |
| 9 | g.99132692C>G | CA374228326 | TGFBR1 | c.320C>G (p.Thr107Arg) c.332C>G (p.Thr111Arg) c.136+3592C>G (n.136+3592C>G) c.*323C>G (n.*323C>G) c.527C>G (p.Thr176Arg) c.343+3592C>G (n.343+3592C>G) c.539C>G (p.Thr180Arg) | gnomAD v4 |
| 9 | g.99132692C>T | CA042247 | TGFBR1 | c.320C>T (p.Thr107Met) c.332C>T (p.Thr111Met) c.136+3592C>T (n.136+3592C>T) c.*323C>T (n.*323C>T) c.527C>T (p.Thr176Met) c.343+3592C>T (n.343+3592C>T) c.539C>T (p.Thr180Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99132693G>A | CA008566 | TGFBR1 | c.321G>A (p.Thr107=) c.333G>A (p.Thr111=) c.136+3593G>A (n.136+3593G>A) c.*324G>A (n.*324G>A) c.528G>A (p.Thr176=) c.343+3593G>A (n.343+3593G>A) c.540G>A (p.Thr180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.99132693G>C | CA466648140 | TGFBR1 | c.321G>C (p.Thr107=) c.333G>C (p.Thr111=) c.136+3593G>C (n.136+3593G>C) c.*324G>C (n.*324G>C) c.528G>C (p.Thr176=) c.343+3593G>C (n.343+3593G>C) c.540G>C (p.Thr180=) | |
| 9 | g.99132693G= | CA1867274753 | TGFBR1 | c.321G= (p.Thr107=) c.333G= (p.Thr111=) c.136+3593G= (n.136+3593G=) c.*324G= (n.*324G=) c.528G= (p.Thr176=) c.343+3593G= (n.343+3593G=) c.540G= (p.Thr180=) | |
| 9 | g.99132693G>T | CA466648141 | TGFBR1 | c.321G>T (p.Thr107=) c.333G>T (p.Thr111=) c.136+3593G>T (n.136+3593G>T) c.*324G>T (n.*324G>T) c.528G>T (p.Thr176=) c.343+3593G>T (n.343+3593G>T) c.540G>T (p.Thr180=) | |
| 9 | g.99132694T>A | CA374228330 | TGFBR1 | c.322T>A (p.Leu108Met) c.334T>A (p.Leu112Met) c.136+3594T>A (n.136+3594T>A) c.*325T>A (n.*325T>A) c.529T>A (p.Leu177Met) c.343+3594T>A (n.343+3594T>A) c.541T>A (p.Leu181Met) | |
| 9 | g.99132694T>C | CA466648142 | TGFBR1 | c.322T>C (p.Leu108=) c.334T>C (p.Leu112=) c.136+3594T>C (n.136+3594T>C) c.*325T>C (n.*325T>C) c.529T>C (p.Leu177=) c.343+3594T>C (n.343+3594T>C) c.541T>C (p.Leu181=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99132694T>G | CA374228331 | TGFBR1 | c.322T>G (p.Leu108Val) c.334T>G (p.Leu112Val) c.136+3594T>G (n.136+3594T>G) c.*325T>G (n.*325T>G) c.529T>G (p.Leu177Val) c.343+3594T>G (n.343+3594T>G) c.541T>G (p.Leu181Val) | |
| 9 | g.99132694T= | CA1867274758 | TGFBR1 | c.322T= (p.Leu108=) c.334T= (p.Leu112=) c.136+3594T= (n.136+3594T=) c.*325T= (n.*325T=) c.529T= (p.Leu177=) c.343+3594T= (n.343+3594T=) c.541T= (p.Leu181=) | |
| 9 | g.99132695T>A | CA374228336 | TGFBR1 | c.323T>A (p.Leu108Ter) c.335T>A (p.Leu112Ter) c.136+3595T>A (n.136+3595T>A) c.*326T>A (n.*326T>A) c.530T>A (p.Leu177Ter) c.343+3595T>A (n.343+3595T>A) c.542T>A (p.Leu181Ter) | |
| 9 | g.99132695T>C | CA374228334 | TGFBR1 | c.323T>C (p.Leu108Ser) c.335T>C (p.Leu112Ser) c.136+3595T>C (n.136+3595T>C) c.*326T>C (n.*326T>C) c.530T>C (p.Leu177Ser) c.343+3595T>C (n.343+3595T>C) c.542T>C (p.Leu181Ser) | |
| 9 | g.99132695T>G | CA374228333 | TGFBR1 | c.323T>G (p.Leu108Trp) c.335T>G (p.Leu112Trp) c.136+3595T>G (n.136+3595T>G) c.*326T>G (n.*326T>G) c.530T>G (p.Leu177Trp) c.343+3595T>G (n.343+3595T>G) c.542T>G (p.Leu181Trp) | |
| 9 | g.99132696G>A | CA466648146 | TGFBR1 | c.324G>A (p.Leu108=) c.336G>A (p.Leu112=) c.136+3596G>A (n.136+3596G>A) c.*327G>A (n.*327G>A) c.531G>A (p.Leu177=) c.343+3596G>A (n.343+3596G>A) c.543G>A (p.Leu181=) | |
| 9 | g.99132696G>C | CA374228338 | TGFBR1 | c.324G>C (p.Leu108Phe) c.336G>C (p.Leu112Phe) c.136+3596G>C (n.136+3596G>C) c.*327G>C (n.*327G>C) c.531G>C (p.Leu177Phe) c.343+3596G>C (n.343+3596G>C) c.543G>C (p.Leu181Phe) | |
| 9 | g.99132696G>T | CA374228339 | TGFBR1 | c.324G>T (p.Leu108Phe) c.336G>T (p.Leu112Phe) c.136+3596G>T (n.136+3596G>T) c.*327G>T (n.*327G>T) c.531G>T (p.Leu177Phe) c.343+3596G>T (n.343+3596G>T) c.543G>T (p.Leu181Phe) | |
| 9 | g.99132697A= | CA1867274764 | TGFBR1 | c.325A= (p.Lys109=) c.337A= (p.Lys113=) c.136+3597A= (n.136+3597A=) c.*328A= (n.*328A=) c.532A= (p.Lys178=) c.343+3597A= (n.343+3597A=) c.544A= (p.Lys182=) | |
| 9 | g.99132697A>C | CA374228342 | TGFBR1 | c.325A>C (p.Lys109Gln) c.337A>C (p.Lys113Gln) c.136+3597A>C (n.136+3597A>C) c.*328A>C (n.*328A>C) c.532A>C (p.Lys178Gln) c.343+3597A>C (n.343+3597A>C) c.544A>C (p.Lys182Gln) | |
| 9 | g.99132697A>G | CA063622 | TGFBR1 | c.325A>G (p.Lys109Glu) c.337A>G (p.Lys113Glu) c.136+3597A>G (n.136+3597A>G) c.*328A>G (n.*328A>G) c.532A>G (p.Lys178Glu) c.343+3597A>G (n.343+3597A>G) c.544A>G (p.Lys182Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99132697A>T | CA374228345 | TGFBR1 | c.325A>T (p.Lys109Ter) c.337A>T (p.Lys113Ter) c.136+3597A>T (n.136+3597A>T) c.*328A>T (n.*328A>T) c.532A>T (p.Lys178Ter) c.343+3597A>T (n.343+3597A>T) c.544A>T (p.Lys182Ter) | |
| 9 | g.99132698A>C | CA374228348 | TGFBR1 | c.326A>C (p.Lys109Thr) c.338A>C (p.Lys113Thr) c.136+3598A>C (n.136+3598A>C) c.*329A>C (n.*329A>C) c.533A>C (p.Lys178Thr) c.343+3598A>C (n.343+3598A>C) c.545A>C (p.Lys182Thr) | |
| 9 | g.99132698A>G | CA374228350 | TGFBR1 | c.326A>G (p.Lys109Arg) c.338A>G (p.Lys113Arg) c.136+3598A>G (n.136+3598A>G) c.*329A>G (n.*329A>G) c.533A>G (p.Lys178Arg) c.343+3598A>G (n.343+3598A>G) c.545A>G (p.Lys182Arg) | |
| 9 | g.99132698A>T | CA374228352 | TGFBR1 | c.326A>T (p.Lys109Ile) c.338A>T (p.Lys113Ile) c.136+3598A>T (n.136+3598A>T) c.*329A>T (n.*329A>T) c.533A>T (p.Lys178Ile) c.343+3598A>T (n.343+3598A>T) c.545A>T (p.Lys182Ile) | |
| 9 | g.99132699A>C | CA374228353 | TGFBR1 | c.327A>C (p.Lys109Asn) c.339A>C (p.Lys113Asn) c.136+3599A>C (n.136+3599A>C) c.*330A>C (n.*330A>C) c.534A>C (p.Lys178Asn) c.343+3599A>C (n.343+3599A>C) c.546A>C (p.Lys182Asn) | gnomAD v4 |
| 9 | g.99132699A>G | CA466648152 | TGFBR1 | c.327A>G (p.Lys109=) c.339A>G (p.Lys113=) c.136+3599A>G (n.136+3599A>G) c.*330A>G (n.*330A>G) c.534A>G (p.Lys178=) c.343+3599A>G (n.343+3599A>G) c.546A>G (p.Lys182=) | |
| 9 | g.99132699A>T | CA374228354 | TGFBR1 | c.327A>T (p.Lys109Asn) c.339A>T (p.Lys113Asn) c.136+3599A>T (n.136+3599A>T) c.*330A>T (n.*330A>T) c.534A>T (p.Lys178Asn) c.343+3599A>T (n.343+3599A>T) c.546A>T (p.Lys182Asn) | |
| 9 | g.99132700G>A | CA374228357 | TGFBR1 | c.328G>A (p.Asp110Asn) c.340G>A (p.Asp114Asn) c.136+3600G>A (n.136+3600G>A) c.*331G>A (n.*331G>A) c.535G>A (p.Asp179Asn) c.343+3600G>A (n.343+3600G>A) c.547G>A (p.Asp183Asn) |