UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99132632_99132634del | CA2600670034 | TGFBR1 | c.260_262del (p.His87del) c.272_274del (p.His91del) c.136+3532_136+3534del (n.136+3532_136+3534del) c.*263_*265del (n.*263_*265del) c.467_469del (p.His156del) c.343+3532_343+3534del (n.343+3532_343+3534del) c.479_481del (p.His160del) | gnomAD v3 gnomAD v4 |
| 9 | g.99132634C>A | CA466648170 | TGFBR1 | c.262C>A (p.Arg88=) c.274C>A (p.Arg92=) c.136+3534C>A (n.136+3534C>A) c.*265C>A (n.*265C>A) c.469C>A (p.Arg157=) c.343+3534C>A (n.343+3534C>A) c.481C>A (p.Arg161=) | |
| 9 | g.99132634C= | CA1867274582 | TGFBR1 | c.262C= (p.Arg88=) c.274C= (p.Arg92=) c.136+3534C= (n.136+3534C=) c.*265C= (n.*265C=) c.469C= (p.Arg157=) c.343+3534C= (n.343+3534C=) c.481C= (p.Arg161=) | |
| 9 | g.99132634C>G | CA374228145 | TGFBR1 | c.262C>G (p.Arg88Gly) c.274C>G (p.Arg92Gly) c.136+3534C>G (n.136+3534C>G) c.*265C>G (n.*265C>G) c.469C>G (p.Arg157Gly) c.343+3534C>G (n.343+3534C>G) c.481C>G (p.Arg161Gly) | |
| 9 | g.99132634C>T | CA16612807 | TGFBR1 | c.262C>T (p.Arg88Ter) c.274C>T (p.Arg92Ter) c.136+3534C>T (n.136+3534C>T) c.*265C>T (n.*265C>T) c.469C>T (p.Arg157Ter) c.343+3534C>T (n.343+3534C>T) c.481C>T (p.Arg161Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 9 | g.99132635G>A | CA374228146 | TGFBR1 | c.263G>A (p.Arg88Gln) c.275G>A (p.Arg92Gln) c.136+3535G>A (n.136+3535G>A) c.*266G>A (n.*266G>A) c.470G>A (p.Arg157Gln) c.343+3535G>A (n.343+3535G>A) c.482G>A (p.Arg161Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99132635G>C | CA042129 | TGFBR1 | c.263G>C (p.Arg88Pro) c.275G>C (p.Arg92Pro) c.136+3535G>C (n.136+3535G>C) c.*266G>C (n.*266G>C) c.470G>C (p.Arg157Pro) c.343+3535G>C (n.343+3535G>C) c.482G>C (p.Arg161Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99132635G= | CA1867274597 | TGFBR1 | c.263G= (p.Arg88=) c.275G= (p.Arg92=) c.136+3535G= (n.136+3535G=) c.*266G= (n.*266G=) c.470G= (p.Arg157=) c.343+3535G= (n.343+3535G=) c.482G= (p.Arg161=) | |
| 9 | g.99132635G>T | CA374228148 | TGFBR1 | c.263G>T (p.Arg88Leu) c.275G>T (p.Arg92Leu) c.136+3535G>T (n.136+3535G>T) c.*266G>T (n.*266G>T) c.470G>T (p.Arg157Leu) c.343+3535G>T (n.343+3535G>T) c.482G>T (p.Arg161Leu) | |
| 9 | g.99132636A= | CA1867274604 | TGFBR1 | c.264A= (p.Arg88=) c.276A= (p.Arg92=) c.136+3536A= (n.136+3536A=) c.*267A= (n.*267A=) c.471A= (p.Arg157=) c.343+3536A= (n.343+3536A=) c.483A= (p.Arg161=) | |
| 9 | g.99132636A>C | CA466648172 | TGFBR1 | c.264A>C (p.Arg88=) c.276A>C (p.Arg92=) c.136+3536A>C (n.136+3536A>C) c.*267A>C (n.*267A>C) c.471A>C (p.Arg157=) c.343+3536A>C (n.343+3536A>C) c.483A>C (p.Arg161=) | |
| 9 | g.99132636A>G | CA466648173 | TGFBR1 | c.264A>G (p.Arg88=) c.276A>G (p.Arg92=) c.136+3536A>G (n.136+3536A>G) c.*267A>G (n.*267A>G) c.471A>G (p.Arg157=) c.343+3536A>G (n.343+3536A>G) c.483A>G (p.Arg161=) | |
| 9 | g.99132636A>T | CA466648174 | TGFBR1 | c.264A>T (p.Arg88=) c.276A>T (p.Arg92=) c.136+3536A>T (n.136+3536A>T) c.*267A>T (n.*267A>T) c.471A>T (p.Arg157=) c.343+3536A>T (n.343+3536A>T) c.483A>T (p.Arg161=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99132636_99132638del | CA2695203280 | TGFBR1 | c.264_266del (p.Val89del) c.276_278del (p.Val93del) c.136+3536_136+3538del (n.136+3536_136+3538del) c.*267_*269del (n.*267_*269del) c.471_473del (p.Val158del) c.343+3536_343+3538del (n.343+3536_343+3538del) c.483_485del (p.Val162del) | |
| 9 | g.99132637G>A | CA374228150 | TGFBR1 | c.265G>A (p.Val89Met) c.277G>A (p.Val93Met) c.136+3537G>A (n.136+3537G>A) c.*268G>A (n.*268G>A) c.472G>A (p.Val158Met) c.343+3537G>A (n.343+3537G>A) c.484G>A (p.Val162Met) | |
| 9 | g.99132637G>C | CA374228152 | TGFBR1 | c.265G>C (p.Val89Leu) c.277G>C (p.Val93Leu) c.136+3537G>C (n.136+3537G>C) c.*268G>C (n.*268G>C) c.472G>C (p.Val158Leu) c.343+3537G>C (n.343+3537G>C) c.484G>C (p.Val162Leu) | |
| 9 | g.99132637G>T | CA374228154 | TGFBR1 | c.265G>T (p.Val89Leu) c.277G>T (p.Val93Leu) c.136+3537G>T (n.136+3537G>T) c.*268G>T (n.*268G>T) c.472G>T (p.Val158Leu) c.343+3537G>T (n.343+3537G>T) c.484G>T (p.Val162Leu) | |
| 9 | g.99132638T>A | CA374228155 | TGFBR1 | c.266T>A (p.Val89Glu) c.278T>A (p.Val93Glu) c.136+3538T>A (n.136+3538T>A) c.*269T>A (n.*269T>A) c.473T>A (p.Val158Glu) c.343+3538T>A (n.343+3538T>A) c.485T>A (p.Val162Glu) | |
| 9 | g.99132638T>C | CA374228156 | TGFBR1 | c.266T>C (p.Val89Ala) c.278T>C (p.Val93Ala) c.136+3538T>C (n.136+3538T>C) c.*269T>C (n.*269T>C) c.473T>C (p.Val158Ala) c.343+3538T>C (n.343+3538T>C) c.485T>C (p.Val162Ala) | |
| 9 | g.99132638T>G | CA374228158 | TGFBR1 | c.266T>G (p.Val89Gly) c.278T>G (p.Val93Gly) c.136+3538T>G (n.136+3538T>G) c.*269T>G (n.*269T>G) c.473T>G (p.Val158Gly) c.343+3538T>G (n.343+3538T>G) c.485T>G (p.Val162Gly) | |
| 9 | g.99132639G>A | CA466648178 | TGFBR1 | c.267G>A (p.Val89=) c.279G>A (p.Val93=) c.136+3539G>A (n.136+3539G>A) c.*270G>A (n.*270G>A) c.474G>A (p.Val158=) c.343+3539G>A (n.343+3539G>A) c.486G>A (p.Val162=) | dbSNP |
| 9 | g.99132639G>C | CA466648179 | TGFBR1 | c.267G>C (p.Val89=) c.279G>C (p.Val93=) c.136+3539G>C (n.136+3539G>C) c.*270G>C (n.*270G>C) c.474G>C (p.Val158=) c.343+3539G>C (n.343+3539G>C) c.486G>C (p.Val162=) | |
| 9 | g.99132639G>T | CA466648177 | TGFBR1 | c.267G>T (p.Val89=) c.279G>T (p.Val93=) c.136+3539G>T (n.136+3539G>T) c.*270G>T (n.*270G>T) c.474G>T (p.Val158=) c.343+3539G>T (n.343+3539G>T) c.486G>T (p.Val162=) | |
| 9 | g.99132640C>A | CA374228161 | TGFBR1 | c.268C>A (p.Pro90Thr) c.280C>A (p.Pro94Thr) c.136+3540C>A (n.136+3540C>A) c.*271C>A (n.*271C>A) c.475C>A (p.Pro159Thr) c.343+3540C>A (n.343+3540C>A) c.487C>A (p.Pro163Thr) | |
| 9 | g.99132640C>G | CA374228160 | TGFBR1 | c.268C>G (p.Pro90Ala) c.280C>G (p.Pro94Ala) c.136+3540C>G (n.136+3540C>G) c.*271C>G (n.*271C>G) c.475C>G (p.Pro159Ala) c.343+3540C>G (n.343+3540C>G) c.487C>G (p.Pro163Ala) | |
| 9 | g.99132640C>T | CA374228159 | TGFBR1 | c.268C>T (p.Pro90Ser) c.280C>T (p.Pro94Ser) c.136+3540C>T (n.136+3540C>T) c.*271C>T (n.*271C>T) c.475C>T (p.Pro159Ser) c.343+3540C>T (n.343+3540C>T) c.487C>T (p.Pro163Ser) | dbSNP |
| 9 | g.99132641C>A | CA374228163 | TGFBR1 | c.269C>A (p.Pro90Gln) c.281C>A (p.Pro94Gln) c.136+3541C>A (n.136+3541C>A) c.*272C>A (n.*272C>A) c.476C>A (p.Pro159Gln) c.343+3541C>A (n.343+3541C>A) c.488C>A (p.Pro163Gln) | |
| 9 | g.99132641C>G | CA374228164 | TGFBR1 | c.269C>G (p.Pro90Arg) c.281C>G (p.Pro94Arg) c.136+3541C>G (n.136+3541C>G) c.*272C>G (n.*272C>G) c.476C>G (p.Pro159Arg) c.343+3541C>G (n.343+3541C>G) c.488C>G (p.Pro163Arg) | |
| 9 | g.99132641C>T | CA374228166 | TGFBR1 | c.269C>T (p.Pro90Leu) c.281C>T (p.Pro94Leu) c.136+3541C>T (n.136+3541C>T) c.*272C>T (n.*272C>T) c.476C>T (p.Pro159Leu) c.343+3541C>T (n.343+3541C>T) c.488C>T (p.Pro163Leu) | |
| 9 | g.99132642A>C | CA466648180 | TGFBR1 | c.270A>C (p.Pro90=) c.282A>C (p.Pro94=) c.136+3542A>C (n.136+3542A>C) c.*273A>C (n.*273A>C) c.477A>C (p.Pro159=) c.343+3542A>C (n.343+3542A>C) c.489A>C (p.Pro163=) | |
| 9 | g.99132642A>G | CA466648181 | TGFBR1 | c.270A>G (p.Pro90=) c.282A>G (p.Pro94=) c.136+3542A>G (n.136+3542A>G) c.*273A>G (n.*273A>G) c.477A>G (p.Pro159=) c.343+3542A>G (n.343+3542A>G) c.489A>G (p.Pro163=) | gnomAD v4 |
| 9 | g.99132642A>T | CA466648182 | TGFBR1 | c.270A>T (p.Pro90=) c.282A>T (p.Pro94=) c.136+3542A>T (n.136+3542A>T) c.*273A>T (n.*273A>T) c.477A>T (p.Pro159=) c.343+3542A>T (n.343+3542A>T) c.489A>T (p.Pro163=) | |
| 9 | g.99132643A= | CA1867274606 | TGFBR1 | c.271A= (p.Asn91=) c.283A= (p.Asn95=) c.136+3543A= (n.136+3543A=) c.*274A= (n.*274A=) c.478A= (p.Asn160=) c.343+3543A= (n.343+3543A=) c.490A= (p.Asn164=) | |
| 9 | g.99132643A>C | CA196885649 | TGFBR1 | c.271A>C (p.Asn91His) c.283A>C (p.Asn95His) c.136+3543A>C (n.136+3543A>C) c.*274A>C (n.*274A>C) c.478A>C (p.Asn160His) c.343+3543A>C (n.343+3543A>C) c.490A>C (p.Asn164His) | dbSNP |
| 9 | g.99132643A>G | CA374228168 | TGFBR1 | c.271A>G (p.Asn91Asp) c.283A>G (p.Asn95Asp) c.136+3543A>G (n.136+3543A>G) c.*274A>G (n.*274A>G) c.478A>G (p.Asn160Asp) c.343+3543A>G (n.343+3543A>G) c.490A>G (p.Asn164Asp) | |
| 9 | g.99132643A>T | CA374228170 | TGFBR1 | c.271A>T (p.Asn91Tyr) c.283A>T (p.Asn95Tyr) c.136+3543A>T (n.136+3543A>T) c.*274A>T (n.*274A>T) c.478A>T (p.Asn160Tyr) c.343+3543A>T (n.343+3543A>T) c.490A>T (p.Asn164Tyr) | |
| 9 | g.99132644A= | CA1867274613 | TGFBR1 | c.272A= (p.Asn91=) c.284A= (p.Asn95=) c.136+3544A= (n.136+3544A=) c.*275A= (n.*275A=) c.479A= (p.Asn160=) c.343+3544A= (n.343+3544A=) c.491A= (p.Asn164=) | |
| 9 | g.99132644A>C | CA374228171 | TGFBR1 | c.272A>C (p.Asn91Thr) c.284A>C (p.Asn95Thr) c.136+3544A>C (n.136+3544A>C) c.*275A>C (n.*275A>C) c.479A>C (p.Asn160Thr) c.343+3544A>C (n.343+3544A>C) c.491A>C (p.Asn164Thr) | |
| 9 | g.99132644A>G | CA042147 | TGFBR1 | c.272A>G (p.Asn91Ser) c.284A>G (p.Asn95Ser) c.136+3544A>G (n.136+3544A>G) c.*275A>G (n.*275A>G) c.479A>G (p.Asn160Ser) c.343+3544A>G (n.343+3544A>G) c.491A>G (p.Asn164Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99132644A>T | CA374228173 | TGFBR1 | c.272A>T (p.Asn91Ile) c.284A>T (p.Asn95Ile) c.136+3544A>T (n.136+3544A>T) c.*275A>T (n.*275A>T) c.479A>T (p.Asn160Ile) c.343+3544A>T (n.343+3544A>T) c.491A>T (p.Asn164Ile) | |
| 9 | g.99132645T>A | CA374228174 | TGFBR1 | c.273T>A (p.Asn91Lys) c.285T>A (p.Asn95Lys) c.136+3545T>A (n.136+3545T>A) c.*276T>A (n.*276T>A) c.480T>A (p.Asn160Lys) c.343+3545T>A (n.343+3545T>A) c.492T>A (p.Asn164Lys) | |
| 9 | g.99132645T>C | CA466648186 | TGFBR1 | c.273T>C (p.Asn91=) c.285T>C (p.Asn95=) c.136+3545T>C (n.136+3545T>C) c.*276T>C (n.*276T>C) c.480T>C (p.Asn160=) c.343+3545T>C (n.343+3545T>C) c.492T>C (p.Asn164=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99132645T>G | CA374228175 | TGFBR1 | c.273T>G (p.Asn91Lys) c.285T>G (p.Asn95Lys) c.136+3545T>G (n.136+3545T>G) c.*276T>G (n.*276T>G) c.480T>G (p.Asn160Lys) c.343+3545T>G (n.343+3545T>G) c.492T>G (p.Asn164Lys) | |
| 9 | g.99132645T= | CA1867274620 | TGFBR1 | c.273T= (p.Asn91=) c.285T= (p.Asn95=) c.136+3545T= (n.136+3545T=) c.*276T= (n.*276T=) c.480T= (p.Asn160=) c.343+3545T= (n.343+3545T=) c.492T= (p.Asn164=) | |
| 9 | g.99132646G>A | CA374228179 | TGFBR1 | c.274G>A (p.Glu92Lys) c.286G>A (p.Glu96Lys) c.136+3546G>A (n.136+3546G>A) c.*277G>A (n.*277G>A) c.481G>A (p.Glu161Lys) c.343+3546G>A (n.343+3546G>A) c.493G>A (p.Glu165Lys) | |
| 9 | g.99132646G>C | CA374228178 | TGFBR1 | c.274G>C (p.Glu92Gln) c.286G>C (p.Glu96Gln) c.136+3546G>C (n.136+3546G>C) c.*277G>C (n.*277G>C) c.481G>C (p.Glu161Gln) c.343+3546G>C (n.343+3546G>C) c.493G>C (p.Glu165Gln) | |
| 9 | g.99132646G>T | CA374228176 | TGFBR1 | c.274G>T (p.Glu92Ter) c.286G>T (p.Glu96Ter) c.136+3546G>T (n.136+3546G>T) c.*277G>T (n.*277G>T) c.481G>T (p.Glu161Ter) c.343+3546G>T (n.343+3546G>T) c.493G>T (p.Glu165Ter) | |
| 9 | g.99132647A>C | CA374228181 | TGFBR1 | c.275A>C (p.Glu92Ala) c.287A>C (p.Glu96Ala) c.136+3547A>C (n.136+3547A>C) c.*278A>C (n.*278A>C) c.482A>C (p.Glu161Ala) c.343+3547A>C (n.343+3547A>C) c.494A>C (p.Glu165Ala) | |
| 9 | g.99132647A>G | CA374228182 | TGFBR1 | c.275A>G (p.Glu92Gly) c.287A>G (p.Glu96Gly) c.136+3547A>G (n.136+3547A>G) c.*278A>G (n.*278A>G) c.482A>G (p.Glu161Gly) c.343+3547A>G (n.343+3547A>G) c.494A>G (p.Glu165Gly) | |
| 9 | g.99132647A>T | CA374228184 | TGFBR1 | c.275A>T (p.Glu92Val) c.287A>T (p.Glu96Val) c.136+3547A>T (n.136+3547A>T) c.*278A>T (n.*278A>T) c.482A>T (p.Glu161Val) c.343+3547A>T (n.343+3547A>T) c.494A>T (p.Glu165Val) |