| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30671873G>A | CA049703 | TGFBR2 | c.690G>A (p.Thr230=) n.2286G>A c.765G>A (p.Thr255=) c.717G>A (p.Thr239=) c.642G>A (p.Thr214=) c.585G>A (p.Thr195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671873G>C | CA433058368 | TGFBR2 | c.690G>C (p.Thr230=) n.2286G>C c.765G>C (p.Thr255=) c.717G>C (p.Thr239=) c.642G>C (p.Thr214=) c.585G>C (p.Thr195=) | gnomAD v4 |
| 3 | g.30671873G= | CA1354873040 | TGFBR2 | c.690G= (p.Thr230=) n.2286G= c.765G= (p.Thr255=) c.717G= (p.Thr239=) c.642G= (p.Thr214=) c.585G= (p.Thr195=) | |
| 3 | g.30671873G>T | CA433058369 | TGFBR2 | c.690G>T (p.Thr230=) n.2286G>T c.765G>T (p.Thr255=) c.717G>T (p.Thr239=) c.642G>T (p.Thr214=) c.585G>T (p.Thr195=) | dbSNP |
| 3 | g.30671874T>A | CA351807655 | TGFBR2 | c.691T>A (p.Cys231Ser) n.2287T>A c.766T>A (p.Cys256Ser) c.718T>A (p.Cys240Ser) c.643T>A (p.Cys215Ser) c.586T>A (p.Cys196Ser) | COSMIC COSMIC |
| 3 | g.30671874T>C | CA351807656 | TGFBR2 | c.691T>C (p.Cys231Arg) n.2287T>C c.766T>C (p.Cys256Arg) c.718T>C (p.Cys240Arg) c.643T>C (p.Cys215Arg) c.586T>C (p.Cys196Arg) | dbSNP |
| 3 | g.30671874T>G | CA351807657 | TGFBR2 | c.691T>G (p.Cys231Gly) n.2287T>G c.766T>G (p.Cys256Gly) c.718T>G (p.Cys240Gly) c.643T>G (p.Cys215Gly) c.586T>G (p.Cys196Gly) | |
| 3 | g.30671874T= | CA1354873041 | TGFBR2 | c.691T= (p.Cys231=) n.2287T= c.766T= (p.Cys256=) c.718T= (p.Cys240=) c.643T= (p.Cys215=) c.586T= (p.Cys196=) | |
| 3 | g.30671875G>A | CA351807658 | TGFBR2 | c.692G>A (p.Cys231Tyr) n.2288G>A c.767G>A (p.Cys256Tyr) c.719G>A (p.Cys240Tyr) c.644G>A (p.Cys215Tyr) c.587G>A (p.Cys196Tyr) | dbSNP |
| 3 | g.30671875G>C | CA351807659 | TGFBR2 | c.692G>C (p.Cys231Ser) n.2288G>C c.767G>C (p.Cys256Ser) c.719G>C (p.Cys240Ser) c.644G>C (p.Cys215Ser) c.587G>C (p.Cys196Ser) | |
| 3 | g.30671875G>T | CA351807660 | TGFBR2 | c.692G>T (p.Cys231Phe) n.2288G>T c.767G>T (p.Cys256Phe) c.719G>T (p.Cys240Phe) c.644G>T (p.Cys215Phe) c.587G>T (p.Cys196Phe) | COSMIC COSMIC |
| 3 | g.30671876T>A | CA351807661 | TGFBR2 | c.693T>A (p.Cys231Ter) n.2289T>A c.768T>A (p.Cys256Ter) c.720T>A (p.Cys240Ter) c.645T>A (p.Cys215Ter) c.588T>A (p.Cys196Ter) | |
| 3 | g.30671876T>C | CA433058513 | TGFBR2 | c.693T>C (p.Cys231=) n.2289T>C c.768T>C (p.Cys256=) c.720T>C (p.Cys240=) c.645T>C (p.Cys215=) c.588T>C (p.Cys196=) | ClinVar dbSNP |
| 3 | g.30671876T>G | CA351807662 | TGFBR2 | c.693T>G (p.Cys231Trp) n.2289T>G c.768T>G (p.Cys256Trp) c.720T>G (p.Cys240Trp) c.645T>G (p.Cys215Trp) c.588T>G (p.Cys196Trp) | |
| 3 | g.30671877G>A | CA351807663 | TGFBR2 | c.694G>A (p.Ala232Thr) n.2290G>A c.769G>A (p.Ala257Thr) c.721G>A (p.Ala241Thr) c.646G>A (p.Ala216Thr) c.589G>A (p.Ala197Thr) | dbSNP |
| 3 | g.30671877G>C | CA351807664 | TGFBR2 | c.694G>C (p.Ala232Pro) n.2290G>C c.769G>C (p.Ala257Pro) c.721G>C (p.Ala241Pro) c.646G>C (p.Ala216Pro) c.589G>C (p.Ala197Pro) | |
| 3 | g.30671877G>T | CA351807665 | TGFBR2 | c.694G>T (p.Ala232Ser) n.2290G>T c.769G>T (p.Ala257Ser) c.721G>T (p.Ala241Ser) c.646G>T (p.Ala216Ser) c.589G>T (p.Ala197Ser) | gnomAD v4 |
| 3 | g.30671878C>A | CA351807666 | TGFBR2 | c.695C>A (p.Ala232Asp) n.2291C>A c.770C>A (p.Ala257Asp) c.722C>A (p.Ala241Asp) c.647C>A (p.Ala216Asp) c.590C>A (p.Ala197Asp) | |
| 3 | g.30671878C>G | CA351807667 | TGFBR2 | c.695C>G (p.Ala232Gly) n.2291C>G c.770C>G (p.Ala257Gly) c.722C>G (p.Ala241Gly) c.647C>G (p.Ala216Gly) c.590C>G (p.Ala197Gly) | dbSNP |
| 3 | g.30671878C>T | CA351807668 | TGFBR2 | c.695C>T (p.Ala232Val) n.2291C>T c.770C>T (p.Ala257Val) c.722C>T (p.Ala241Val) c.647C>T (p.Ala216Val) c.590C>T (p.Ala197Val) | dbSNP gnomAD v4 |
| 3 | g.30671879C>A | CA433058517 | TGFBR2 | c.696C>A (p.Ala232=) n.2292C>A c.771C>A (p.Ala257=) c.723C>A (p.Ala241=) c.648C>A (p.Ala216=) c.591C>A (p.Ala197=) | gnomAD v4 |
| 3 | g.30671879C= | CA1354873042 | TGFBR2 | c.696C= (p.Ala232=) n.2292C= c.771C= (p.Ala257=) c.723C= (p.Ala241=) c.648C= (p.Ala216=) c.591C= (p.Ala197=) | |
| 3 | g.30671879C>G | CA433058518 | TGFBR2 | c.696C>G (p.Ala232=) n.2292C>G c.771C>G (p.Ala257=) c.723C>G (p.Ala241=) c.648C>G (p.Ala216=) c.591C>G (p.Ala197=) | dbSNP |
| 3 | g.30671879C>T | CA049716 | TGFBR2 | c.696C>T (p.Ala232=) n.2292C>T c.771C>T (p.Ala257=) c.723C>T (p.Ala241=) c.648C>T (p.Ala216=) c.591C>T (p.Ala197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671884_30671886del | CA645535104 | TGFBR2 | c.701_703del (p.Asn234del) n.2297_2299del c.776_778del (p.Asn259del) c.728_730del (p.Asn243del) c.653_655del (p.Asn218del) c.596_598del (p.Asn199del) | COSMIC COSMIC |
| 3 | g.30671880A>C | CA351807669 | TGFBR2 | c.697A>C (p.Asn233His) n.2293A>C c.772A>C (p.Asn258His) c.724A>C (p.Asn242His) c.649A>C (p.Asn217His) c.592A>C (p.Asn198His) | |
| 3 | g.30671880A>G | CA351807670 | TGFBR2 | c.697A>G (p.Asn233Asp) n.2293A>G c.772A>G (p.Asn258Asp) c.724A>G (p.Asn242Asp) c.649A>G (p.Asn217Asp) c.592A>G (p.Asn198Asp) | |
| 3 | g.30671880A>T | CA351807671 | TGFBR2 | c.697A>T (p.Asn233Tyr) n.2293A>T c.772A>T (p.Asn258Tyr) c.724A>T (p.Asn242Tyr) c.649A>T (p.Asn217Tyr) c.592A>T (p.Asn198Tyr) | |
| 3 | g.30671881A>C | CA351807672 | TGFBR2 | c.698A>C (p.Asn233Thr) n.2294A>C c.773A>C (p.Asn258Thr) c.725A>C (p.Asn242Thr) c.650A>C (p.Asn217Thr) c.593A>C (p.Asn198Thr) | |
| 3 | g.30671881A>G | CA351807673 | TGFBR2 | c.698A>G (p.Asn233Ser) n.2294A>G c.773A>G (p.Asn258Ser) c.725A>G (p.Asn242Ser) c.650A>G (p.Asn217Ser) c.593A>G (p.Asn198Ser) | |
| 3 | g.30671881A>T | CA351807674 | TGFBR2 | c.698A>T (p.Asn233Ile) n.2294A>T c.773A>T (p.Asn258Ile) c.725A>T (p.Asn242Ile) c.650A>T (p.Asn217Ile) c.593A>T (p.Asn198Ile) | |
| 3 | g.30671882C>A | CA351807675 | TGFBR2 | c.699C>A (p.Asn233Lys) n.2295C>A c.774C>A (p.Asn258Lys) c.726C>A (p.Asn242Lys) c.651C>A (p.Asn217Lys) c.594C>A (p.Asn198Lys) | ClinVar dbSNP |
| 3 | g.30671882C>G | CA351807676 | TGFBR2 | c.699C>G (p.Asn233Lys) n.2295C>G c.774C>G (p.Asn258Lys) c.726C>G (p.Asn242Lys) c.651C>G (p.Asn217Lys) c.594C>G (p.Asn198Lys) | |
| 3 | g.30671882C>T | CA433058519 | TGFBR2 | c.699C>T (p.Asn233=) n.2295C>T c.774C>T (p.Asn258=) c.726C>T (p.Asn242=) c.651C>T (p.Asn217=) c.594C>T (p.Asn198=) | gnomAD v4 |
| 3 | g.30671883A>C | CA351807677 | TGFBR2 | c.700A>C (p.Asn234His) n.2296A>C c.775A>C (p.Asn259His) c.727A>C (p.Asn243His) c.652A>C (p.Asn218His) c.595A>C (p.Asn199His) | |
| 3 | g.30671883A>G | CA351807678 | TGFBR2 | c.700A>G (p.Asn234Asp) n.2296A>G c.775A>G (p.Asn259Asp) c.727A>G (p.Asn243Asp) c.652A>G (p.Asn218Asp) c.595A>G (p.Asn199Asp) | |
| 3 | g.30671883A>T | CA351807679 | TGFBR2 | c.700A>T (p.Asn234Tyr) n.2296A>T c.775A>T (p.Asn259Tyr) c.727A>T (p.Asn243Tyr) c.652A>T (p.Asn218Tyr) c.595A>T (p.Asn199Tyr) | |
| 3 | g.30671884A= | CA1354873043 | TGFBR2 | c.701A= (p.Asn234=) n.2297A= c.776A= (p.Asn259=) c.728A= (p.Asn243=) c.653A= (p.Asn218=) c.596A= (p.Asn199=) | |
| 3 | g.30671884A>C | CA351807680 | TGFBR2 | c.701A>C (p.Asn234Thr) n.2297A>C c.776A>C (p.Asn259Thr) c.728A>C (p.Asn243Thr) c.653A>C (p.Asn218Thr) c.596A>C (p.Asn199Thr) | |
| 3 | g.30671884A>G | CA351807681 | TGFBR2 | c.701A>G (p.Asn234Ser) n.2297A>G c.776A>G (p.Asn259Ser) c.728A>G (p.Asn243Ser) c.653A>G (p.Asn218Ser) c.596A>G (p.Asn199Ser) | |
| 3 | g.30671884A>T | CA320151 | TGFBR2 | c.701A>T (p.Asn234Ile) n.2297A>T c.776A>T (p.Asn259Ile) c.728A>T (p.Asn243Ile) c.653A>T (p.Asn218Ile) c.596A>T (p.Asn199Ile) | ClinVar dbSNP |
| 3 | g.30671885C>A | CA351807682 | TGFBR2 | c.702C>A (p.Asn234Lys) n.2298C>A c.777C>A (p.Asn259Lys) c.729C>A (p.Asn243Lys) c.654C>A (p.Asn218Lys) c.597C>A (p.Asn199Lys) | |
| 3 | g.30671885C>G | CA351807683 | TGFBR2 | c.702C>G (p.Asn234Lys) n.2298C>G c.777C>G (p.Asn259Lys) c.729C>G (p.Asn243Lys) c.654C>G (p.Asn218Lys) c.597C>G (p.Asn199Lys) | |
| 3 | g.30671885C>T | CA433058523 | TGFBR2 | c.702C>T (p.Asn234=) n.2298C>T c.777C>T (p.Asn259=) c.729C>T (p.Asn243=) c.654C>T (p.Asn218=) c.597C>T (p.Asn199=) | |
| 3 | g.30671886A>C | CA351807684 | TGFBR2 | c.703A>C (p.Ile235Leu) n.2299A>C c.778A>C (p.Ile260Leu) c.730A>C (p.Ile244Leu) c.655A>C (p.Ile219Leu) c.598A>C (p.Ile200Leu) | |
| 3 | g.30671886A>G | CA351807685 | TGFBR2 | c.703A>G (p.Ile235Val) n.2299A>G c.778A>G (p.Ile260Val) c.730A>G (p.Ile244Val) c.655A>G (p.Ile219Val) c.598A>G (p.Ile200Val) | |
| 3 | g.30671886A>T | CA351807686 | TGFBR2 | c.703A>T (p.Ile235Phe) n.2299A>T c.778A>T (p.Ile260Phe) c.730A>T (p.Ile244Phe) c.655A>T (p.Ile219Phe) c.598A>T (p.Ile200Phe) | |
| 3 | g.30671887T>A | CA351807689 | TGFBR2 | c.704T>A (p.Ile235Asn) n.2300T>A c.779T>A (p.Ile260Asn) c.731T>A (p.Ile244Asn) c.656T>A (p.Ile219Asn) c.599T>A (p.Ile200Asn) | |
| 3 | g.30671887T>C | CA351807688 | TGFBR2 | c.704T>C (p.Ile235Thr) n.2300T>C c.779T>C (p.Ile260Thr) c.731T>C (p.Ile244Thr) c.656T>C (p.Ile219Thr) c.599T>C (p.Ile200Thr) | |
| 3 | g.30671887T>G | CA351807687 | TGFBR2 | c.704T>G (p.Ile235Ser) n.2300T>G c.779T>G (p.Ile260Ser) c.731T>G (p.Ile244Ser) c.656T>G (p.Ile219Ser) c.599T>G (p.Ile200Ser) | |
| 3 | g.30671888C>A | CA433058528 | TGFBR2 | c.705C>A (p.Ile235=) n.2301C>A c.780C>A (p.Ile260=) c.732C>A (p.Ile244=) c.657C>A (p.Ile219=) c.600C>A (p.Ile200=) | dbSNP |
| 3 | g.30671888C= | CA1354873044 | TGFBR2 | c.705C= (p.Ile235=) n.2301C= c.780C= (p.Ile260=) c.732C= (p.Ile244=) c.657C= (p.Ile219=) c.600C= (p.Ile200=) | |
| 3 | g.30671888C>G | CA351807690 | TGFBR2 | c.705C>G (p.Ile235Met) n.2301C>G c.780C>G (p.Ile260Met) c.732C>G (p.Ile244Met) c.657C>G (p.Ile219Met) c.600C>G (p.Ile200Met) | |
| 3 | g.30671888C>T | CA433058526 | TGFBR2 | c.705C>T (p.Ile235=) n.2301C>T c.780C>T (p.Ile260=) c.732C>T (p.Ile244=) c.657C>T (p.Ile219=) c.600C>T (p.Ile200=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30671889A>C | CA351807691 | TGFBR2 | c.706A>C (p.Asn236His) n.2302A>C c.781A>C (p.Asn261His) c.733A>C (p.Asn245His) c.658A>C (p.Asn220His) c.601A>C (p.Asn201His) | |
| 3 | g.30671889A>G | CA351807692 | TGFBR2 | c.706A>G (p.Asn236Asp) n.2302A>G c.781A>G (p.Asn261Asp) c.733A>G (p.Asn245Asp) c.658A>G (p.Asn220Asp) c.601A>G (p.Asn201Asp) | |
| 3 | g.30671889A>T | CA351807693 | TGFBR2 | c.706A>T (p.Asn236Tyr) n.2302A>T c.781A>T (p.Asn261Tyr) c.733A>T (p.Asn245Tyr) c.658A>T (p.Asn220Tyr) c.601A>T (p.Asn201Tyr) | |
| 3 | g.30671890A>C | CA351807694 | TGFBR2 | c.707A>C (p.Asn236Thr) n.2303A>C c.782A>C (p.Asn261Thr) c.734A>C (p.Asn245Thr) c.659A>C (p.Asn220Thr) c.602A>C (p.Asn201Thr) | |
| 3 | g.30671890A>G | CA351807695 | TGFBR2 | c.707A>G (p.Asn236Ser) n.2303A>G c.782A>G (p.Asn261Ser) c.734A>G (p.Asn245Ser) c.659A>G (p.Asn220Ser) c.602A>G (p.Asn201Ser) | gnomAD v4 |
| 3 | g.30671890A>T | CA351807696 | TGFBR2 | c.707A>T (p.Asn236Ile) n.2303A>T c.782A>T (p.Asn261Ile) c.734A>T (p.Asn245Ile) c.659A>T (p.Asn220Ile) c.602A>T (p.Asn201Ile) | |
| 3 | g.30671891C>A | CA351807697 | TGFBR2 | c.708C>A (p.Asn236Lys) n.2304C>A c.783C>A (p.Asn261Lys) c.735C>A (p.Asn245Lys) c.660C>A (p.Asn220Lys) c.603C>A (p.Asn201Lys) | dbSNP |
| 3 | g.30671891C= | CA1354873045 | TGFBR2 | c.708C= (p.Asn236=) n.2304C= c.783C= (p.Asn261=) c.735C= (p.Asn245=) c.660C= (p.Asn220=) c.603C= (p.Asn201=) | |
| 3 | g.30671891C>G | CA351807698 | TGFBR2 | c.708C>G (p.Asn236Lys) n.2304C>G c.783C>G (p.Asn261Lys) c.735C>G (p.Asn245Lys) c.660C>G (p.Asn220Lys) c.603C>G (p.Asn201Lys) | |
| 3 | g.30671891C>T | CA049742 | TGFBR2 | c.708C>T (p.Asn236=) n.2304C>T c.783C>T (p.Asn261=) c.735C>T (p.Asn245=) c.660C>T (p.Asn220=) c.603C>T (p.Asn201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671892C>A | CA351807699 | TGFBR2 | c.709C>A (p.His237Asn) n.2305C>A c.784C>A (p.His262Asn) c.736C>A (p.His246Asn) c.661C>A (p.His221Asn) c.604C>A (p.His202Asn) | |
| 3 | g.30671892C>G | CA351807700 | TGFBR2 | c.709C>G (p.His237Asp) n.2305C>G c.784C>G (p.His262Asp) c.736C>G (p.His246Asp) c.661C>G (p.His221Asp) c.604C>G (p.His202Asp) | |
| 3 | g.30671892C>T | CA351807701 | TGFBR2 | c.709C>T (p.His237Tyr) n.2305C>T c.784C>T (p.His262Tyr) c.736C>T (p.His246Tyr) c.661C>T (p.His221Tyr) c.604C>T (p.His202Tyr) | |
| 3 | g.30671893A>C | CA351807704 | TGFBR2 | c.710A>C (p.His237Pro) n.2306A>C c.785A>C (p.His262Pro) c.737A>C (p.His246Pro) c.662A>C (p.His221Pro) c.605A>C (p.His202Pro) | |
| 3 | g.30671893A>G | CA351807703 | TGFBR2 | c.710A>G (p.His237Arg) n.2306A>G c.785A>G (p.His262Arg) c.737A>G (p.His246Arg) c.662A>G (p.His221Arg) c.605A>G (p.His202Arg) | |
| 3 | g.30671893A>T | CA351807702 | TGFBR2 | c.710A>T (p.His237Leu) n.2306A>T c.785A>T (p.His262Leu) c.737A>T (p.His246Leu) c.662A>T (p.His221Leu) c.605A>T (p.His202Leu) | dbSNP |
| 3 | g.30671894C>A | CA351807705 | TGFBR2 | c.711C>A (p.His237Gln) n.2307C>A c.786C>A (p.His262Gln) c.738C>A (p.His246Gln) c.663C>A (p.His221Gln) c.606C>A (p.His202Gln) | |
| 3 | g.30671894C>G | CA351807706 | TGFBR2 | c.711C>G (p.His237Gln) n.2307C>G c.786C>G (p.His262Gln) c.738C>G (p.His246Gln) c.663C>G (p.His221Gln) c.606C>G (p.His202Gln) | dbSNP |
| 3 | g.30671894C>T | CA433058534 | TGFBR2 | c.711C>T (p.His237=) n.2307C>T c.786C>T (p.His262=) c.738C>T (p.His246=) c.663C>T (p.His221=) c.606C>T (p.His202=) | |
| 3 | g.30671895A>C | CA351807707 | TGFBR2 | c.712A>C (p.Asn238His) n.2308A>C c.787A>C (p.Asn263His) c.739A>C (p.Asn247His) c.664A>C (p.Asn222His) c.607A>C (p.Asn203His) | |
| 3 | g.30671895A>G | CA351807708 | TGFBR2 | c.712A>G (p.Asn238Asp) n.2308A>G c.787A>G (p.Asn263Asp) c.739A>G (p.Asn247Asp) c.664A>G (p.Asn222Asp) c.607A>G (p.Asn203Asp) | |
| 3 | g.30671895A>T | CA351807709 | TGFBR2 | c.712A>T (p.Asn238Tyr) n.2308A>T c.787A>T (p.Asn263Tyr) c.739A>T (p.Asn247Tyr) c.664A>T (p.Asn222Tyr) c.607A>T (p.Asn203Tyr) | |
| 3 | g.30671896A>C | CA351807710 | TGFBR2 | c.713A>C (p.Asn238Thr) n.2309A>C c.788A>C (p.Asn263Thr) c.740A>C (p.Asn247Thr) c.665A>C (p.Asn222Thr) c.608A>C (p.Asn203Thr) | |
| 3 | g.30671896A>G | CA351807711 | TGFBR2 | c.713A>G (p.Asn238Ser) n.2309A>G c.788A>G (p.Asn263Ser) c.740A>G (p.Asn247Ser) c.665A>G (p.Asn222Ser) c.608A>G (p.Asn203Ser) | |
| 3 | g.30671896A>T | CA351807712 | TGFBR2 | c.713A>T (p.Asn238Ile) n.2309A>T c.788A>T (p.Asn263Ile) c.740A>T (p.Asn247Ile) c.665A>T (p.Asn222Ile) c.608A>T (p.Asn203Ile) | |
| 3 | g.30671897C>A | CA351807713 | TGFBR2 | c.714C>A (p.Asn238Lys) n.2310C>A c.789C>A (p.Asn263Lys) c.741C>A (p.Asn247Lys) c.666C>A (p.Asn222Lys) c.609C>A (p.Asn203Lys) | dbSNP |
| 3 | g.30671897C>G | CA351807714 | TGFBR2 | c.714C>G (p.Asn238Lys) n.2310C>G c.789C>G (p.Asn263Lys) c.741C>G (p.Asn247Lys) c.666C>G (p.Asn222Lys) c.609C>G (p.Asn203Lys) | |
| 3 | g.30671897C>T | CA433058536 | TGFBR2 | c.714C>T (p.Asn238=) n.2310C>T c.789C>T (p.Asn263=) c.741C>T (p.Asn247=) c.666C>T (p.Asn222=) c.609C>T (p.Asn203=) | |
| 3 | g.30671898A>C | CA351807715 | TGFBR2 | c.715A>C (p.Thr239Pro) n.2311A>C c.790A>C (p.Thr264Pro) c.742A>C (p.Thr248Pro) c.667A>C (p.Thr223Pro) c.610A>C (p.Thr204Pro) | |
| 3 | g.30671898A>G | CA351807716 | TGFBR2 | c.715A>G (p.Thr239Ala) n.2311A>G c.790A>G (p.Thr264Ala) c.742A>G (p.Thr248Ala) c.667A>G (p.Thr223Ala) c.610A>G (p.Thr204Ala) | COSMIC COSMIC |
| 3 | g.30671898A>T | CA351807717 | TGFBR2 | c.715A>T (p.Thr239Ser) n.2311A>T c.790A>T (p.Thr264Ser) c.742A>T (p.Thr248Ser) c.667A>T (p.Thr223Ser) c.610A>T (p.Thr204Ser) | |
| 3 | g.30671899C>A | CA351807719 | TGFBR2 | c.716C>A (p.Thr239Lys) n.2312C>A c.791C>A (p.Thr264Lys) c.743C>A (p.Thr248Lys) c.668C>A (p.Thr223Lys) c.611C>A (p.Thr204Lys) | |
| 3 | g.30671899C>G | CA351807720 | TGFBR2 | c.716C>G (p.Thr239Arg) n.2312C>G c.791C>G (p.Thr264Arg) c.743C>G (p.Thr248Arg) c.668C>G (p.Thr223Arg) c.611C>G (p.Thr204Arg) | |
| 3 | g.30671899C>T | CA351807718 | TGFBR2 | c.716C>T (p.Thr239Ile) n.2312C>T c.791C>T (p.Thr264Ile) c.743C>T (p.Thr248Ile) c.668C>T (p.Thr223Ile) c.611C>T (p.Thr204Ile) | |
| 3 | g.30671900A>C | CA433058537 | TGFBR2 | c.717A>C (p.Thr239=) n.2313A>C c.792A>C (p.Thr264=) c.744A>C (p.Thr248=) c.669A>C (p.Thr223=) c.612A>C (p.Thr204=) | |
| 3 | g.30671900A>G | CA433058538 | TGFBR2 | c.717A>G (p.Thr239=) n.2313A>G c.792A>G (p.Thr264=) c.744A>G (p.Thr248=) c.669A>G (p.Thr223=) c.612A>G (p.Thr204=) | COSMIC |
| 3 | g.30671900A>T | CA433058539 | TGFBR2 | c.717A>T (p.Thr239=) n.2313A>T c.792A>T (p.Thr264=) c.744A>T (p.Thr248=) c.669A>T (p.Thr223=) c.612A>T (p.Thr204=) | |
| 3 | g.30671901G>A | CA351807721 | TGFBR2 | c.718G>A (p.Glu240Lys) n.2314G>A c.793G>A (p.Glu265Lys) c.745G>A (p.Glu249Lys) c.670G>A (p.Glu224Lys) c.613G>A (p.Glu205Lys) | |
| 3 | g.30671901G>C | CA351807722 | TGFBR2 | c.718G>C (p.Glu240Gln) n.2314G>C c.793G>C (p.Glu265Gln) c.745G>C (p.Glu249Gln) c.670G>C (p.Glu224Gln) c.613G>C (p.Glu205Gln) | |
| 3 | g.30671901G>T | CA351807723 | TGFBR2 | c.718G>T (p.Glu240Ter) n.2314G>T c.793G>T (p.Glu265Ter) c.745G>T (p.Glu249Ter) c.670G>T (p.Glu224Ter) c.613G>T (p.Glu205Ter) | |
| 3 | g.30671902A>C | CA351807724 | TGFBR2 | c.719A>C (p.Glu240Ala) n.2315A>C c.794A>C (p.Glu265Ala) c.746A>C (p.Glu249Ala) c.671A>C (p.Glu224Ala) c.614A>C (p.Glu205Ala) | |
| 3 | g.30671902A>G | CA351807725 | TGFBR2 | c.719A>G (p.Glu240Gly) n.2315A>G c.794A>G (p.Glu265Gly) c.746A>G (p.Glu249Gly) c.671A>G (p.Glu224Gly) c.614A>G (p.Glu205Gly) | |
| 3 | g.30671902A>T | CA351807726 | TGFBR2 | c.719A>T (p.Glu240Val) n.2315A>T c.794A>T (p.Glu265Val) c.746A>T (p.Glu249Val) c.671A>T (p.Glu224Val) c.614A>T (p.Glu205Val) | |
| 3 | g.30671903G>A | CA433058541 | TGFBR2 | c.720G>A (p.Glu240=) n.2316G>A c.795G>A (p.Glu265=) c.747G>A (p.Glu249=) c.672G>A (p.Glu224=) c.615G>A (p.Glu205=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30671903G>C | CA351807727 | TGFBR2 | c.720G>C (p.Glu240Asp) n.2316G>C c.795G>C (p.Glu265Asp) c.747G>C (p.Glu249Asp) c.672G>C (p.Glu224Asp) c.615G>C (p.Glu205Asp) | |
| 3 | g.30671903G= | CA1354873046 | TGFBR2 | c.720G= (p.Glu240=) n.2316G= c.795G= (p.Glu265=) c.747G= (p.Glu249=) c.672G= (p.Glu224=) c.615G= (p.Glu205=) | |
| 3 | g.30671903G>T | CA351807728 | TGFBR2 | c.720G>T (p.Glu240Asp) n.2316G>T c.795G>T (p.Glu265Asp) c.747G>T (p.Glu249Asp) c.672G>T (p.Glu224Asp) c.615G>T (p.Glu205Asp) | |
| 3 | g.30671904C>A | CA351807729 | TGFBR2 | c.721C>A (p.Leu241Met) n.2317C>A c.796C>A (p.Leu266Met) c.748C>A (p.Leu250Met) c.673C>A (p.Leu225Met) c.616C>A (p.Leu206Met) | |
| 3 | g.30671904C>G | CA351807730 | TGFBR2 | c.721C>G (p.Leu241Val) n.2317C>G c.796C>G (p.Leu266Val) c.748C>G (p.Leu250Val) c.673C>G (p.Leu225Val) c.616C>G (p.Leu206Val) | |
| 3 | g.30671904C>T | CA433058542 | TGFBR2 | c.721C>T (p.Leu241=) n.2317C>T c.796C>T (p.Leu266=) c.748C>T (p.Leu250=) c.673C>T (p.Leu225=) c.616C>T (p.Leu206=) | ClinVar dbSNP |
| 3 | g.30671905T>A | CA351807731 | TGFBR2 | c.722T>A (p.Leu241Gln) n.2318T>A c.797T>A (p.Leu266Gln) c.749T>A (p.Leu250Gln) c.674T>A (p.Leu225Gln) c.617T>A (p.Leu206Gln) | |
| 3 | g.30671905T>C | CA351807732 | TGFBR2 | c.722T>C (p.Leu241Pro) n.2318T>C c.797T>C (p.Leu266Pro) c.749T>C (p.Leu250Pro) c.674T>C (p.Leu225Pro) c.617T>C (p.Leu206Pro) | |
| 3 | g.30671905T>G | CA351807733 | TGFBR2 | c.722T>G (p.Leu241Arg) n.2318T>G c.797T>G (p.Leu266Arg) c.749T>G (p.Leu250Arg) c.674T>G (p.Leu225Arg) c.617T>G (p.Leu206Arg) | |
| 3 | g.30671906G>A | CA433058546 | TGFBR2 | c.723G>A (p.Leu241=) n.2319G>A c.798G>A (p.Leu266=) c.750G>A (p.Leu250=) c.675G>A (p.Leu225=) c.618G>A (p.Leu206=) | dbSNP |
| 3 | g.30671906G>C | CA433058547 | TGFBR2 | c.723G>C (p.Leu241=) n.2319G>C c.798G>C (p.Leu266=) c.750G>C (p.Leu250=) c.675G>C (p.Leu225=) c.618G>C (p.Leu206=) | ClinVar |
| 3 | g.30671906G>T | CA433058548 | TGFBR2 | c.723G>T (p.Leu241=) n.2319G>T c.798G>T (p.Leu266=) c.750G>T (p.Leu250=) c.675G>T (p.Leu225=) c.618G>T (p.Leu206=) | gnomAD v4 |
| 3 | g.30671907C>A | CA351807734 | TGFBR2 | c.724C>A (p.Leu242Met) n.2320C>A c.799C>A (p.Leu267Met) c.751C>A (p.Leu251Met) c.676C>A (p.Leu226Met) c.619C>A (p.Leu207Met) | |
| 3 | g.30671907C= | CA1354873047 | TGFBR2 | c.724C= (p.Leu242=) n.2320C= c.799C= (p.Leu267=) c.751C= (p.Leu251=) c.676C= (p.Leu226=) c.619C= (p.Leu207=) | |
| 3 | g.30671907C>G | CA351807735 | TGFBR2 | c.724C>G (p.Leu242Val) n.2320C>G c.799C>G (p.Leu267Val) c.751C>G (p.Leu251Val) c.676C>G (p.Leu226Val) c.619C>G (p.Leu207Val) | |
| 3 | g.30671907C>T | CA433058549 | TGFBR2 | c.724C>T (p.Leu242=) n.2320C>T c.799C>T (p.Leu267=) c.751C>T (p.Leu251=) c.676C>T (p.Leu226=) c.619C>T (p.Leu207=) | dbSNP |
| 3 | g.30671908T>A | CA351807736 | TGFBR2 | c.725T>A (p.Leu242Gln) n.2321T>A c.800T>A (p.Leu267Gln) c.752T>A (p.Leu251Gln) c.677T>A (p.Leu226Gln) c.620T>A (p.Leu207Gln) | |
| 3 | g.30671908T>C | CA351807737 | TGFBR2 | c.725T>C (p.Leu242Pro) n.2321T>C c.800T>C (p.Leu267Pro) c.752T>C (p.Leu251Pro) c.677T>C (p.Leu226Pro) c.620T>C (p.Leu207Pro) | |
| 3 | g.30671908T>G | CA351807738 | TGFBR2 | c.725T>G (p.Leu242Arg) n.2321T>G c.800T>G (p.Leu267Arg) c.752T>G (p.Leu251Arg) c.677T>G (p.Leu226Arg) c.620T>G (p.Leu207Arg) | |
| 3 | g.30671909G>A | CA433058550 | TGFBR2 | c.726G>A (p.Leu242=) n.2322G>A c.801G>A (p.Leu267=) c.753G>A (p.Leu251=) c.678G>A (p.Leu226=) c.621G>A (p.Leu207=) | COSMIC |
| 3 | g.30671909G>C | CA433058552 | TGFBR2 | c.726G>C (p.Leu242=) n.2322G>C c.801G>C (p.Leu267=) c.753G>C (p.Leu251=) c.678G>C (p.Leu226=) c.621G>C (p.Leu207=) | |
| 3 | g.30671909G>T | CA433058551 | TGFBR2 | c.726G>T (p.Leu242=) n.2322G>T c.801G>T (p.Leu267=) c.753G>T (p.Leu251=) c.678G>T (p.Leu226=) c.621G>T (p.Leu207=) | |
| 3 | g.30671910C>A | CA351807739 | TGFBR2 | c.727C>A (p.Pro243Thr) n.2323C>A c.802C>A (p.Pro268Thr) c.754C>A (p.Pro252Thr) c.679C>A (p.Pro227Thr) c.622C>A (p.Pro208Thr) | |
| 3 | g.30671910C>G | CA351807740 | TGFBR2 | c.727C>G (p.Pro243Ala) n.2323C>G c.802C>G (p.Pro268Ala) c.754C>G (p.Pro252Ala) c.679C>G (p.Pro227Ala) c.622C>G (p.Pro208Ala) | |
| 3 | g.30671910C>T | CA351807741 | TGFBR2 | c.727C>T (p.Pro243Ser) n.2323C>T c.802C>T (p.Pro268Ser) c.754C>T (p.Pro252Ser) c.679C>T (p.Pro227Ser) c.622C>T (p.Pro208Ser) | dbSNP |
| 3 | g.30671911C>A | CA351807742 | TGFBR2 | c.728C>A (p.Pro243His) n.2324C>A c.803C>A (p.Pro268His) c.755C>A (p.Pro252His) c.680C>A (p.Pro227His) c.623C>A (p.Pro208His) | |
| 3 | g.30671911C>G | CA351807743 | TGFBR2 | c.728C>G (p.Pro243Arg) n.2324C>G c.803C>G (p.Pro268Arg) c.755C>G (p.Pro252Arg) c.680C>G (p.Pro227Arg) c.623C>G (p.Pro208Arg) | |
| 3 | g.30671911C>T | CA351807744 | TGFBR2 | c.728C>T (p.Pro243Leu) n.2324C>T c.803C>T (p.Pro268Leu) c.755C>T (p.Pro252Leu) c.680C>T (p.Pro227Leu) c.623C>T (p.Pro208Leu) | dbSNP |
| 3 | g.30671912C>A | CA433058554 | TGFBR2 | c.729C>A (p.Pro243=) n.2325C>A c.804C>A (p.Pro268=) c.756C>A (p.Pro252=) c.681C>A (p.Pro227=) c.624C>A (p.Pro208=) | ClinVar dbSNP |
| 3 | g.30671912C= | CA1354873048 | TGFBR2 | c.729C= (p.Pro243=) n.2325C= c.804C= (p.Pro268=) c.756C= (p.Pro252=) c.681C= (p.Pro227=) c.624C= (p.Pro208=) | |
| 3 | g.30671912C>G | CA433058555 | TGFBR2 | c.729C>G (p.Pro243=) n.2325C>G c.804C>G (p.Pro268=) c.756C>G (p.Pro252=) c.681C>G (p.Pro227=) c.624C>G (p.Pro208=) | dbSNP |
| 3 | g.30671912C>T | CA433058557 | TGFBR2 | c.729C>T (p.Pro243=) n.2325C>T c.804C>T (p.Pro268=) c.756C>T (p.Pro252=) c.681C>T (p.Pro227=) c.624C>T (p.Pro208=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30671913A= | CA1354873049 | TGFBR2 | c.730A= (p.Ile244=) n.2326A= c.805A= (p.Ile269=) c.757A= (p.Ile253=) c.682A= (p.Ile228=) c.625A= (p.Ile209=) | |
| 3 | g.30671913A>C | CA351807745 | TGFBR2 | c.730A>C (p.Ile244Leu) n.2326A>C c.805A>C (p.Ile269Leu) c.757A>C (p.Ile253Leu) c.682A>C (p.Ile228Leu) c.625A>C (p.Ile209Leu) | |
| 3 | g.30671913A>G | CA351807746 | TGFBR2 | c.730A>G (p.Ile244Val) n.2326A>G c.805A>G (p.Ile269Val) c.757A>G (p.Ile253Val) c.682A>G (p.Ile228Val) c.625A>G (p.Ile209Val) | dbSNP |
| 3 | g.30671913A>T | CA351807747 | TGFBR2 | c.730A>T (p.Ile244Phe) n.2326A>T c.805A>T (p.Ile269Phe) c.757A>T (p.Ile253Phe) c.682A>T (p.Ile228Phe) c.625A>T (p.Ile209Phe) | |
| 3 | g.30671914T>A | CA351807749 | TGFBR2 | c.731T>A (p.Ile244Asn) n.2327T>A c.806T>A (p.Ile269Asn) c.758T>A (p.Ile253Asn) c.683T>A (p.Ile228Asn) c.626T>A (p.Ile209Asn) | |
| 3 | g.30671914T>C | CA351807750 | TGFBR2 | c.731T>C (p.Ile244Thr) n.2327T>C c.806T>C (p.Ile269Thr) c.758T>C (p.Ile253Thr) c.683T>C (p.Ile228Thr) c.626T>C (p.Ile209Thr) | gnomAD v4 |
| 3 | g.30671914T>G | CA351807748 | TGFBR2 | c.731T>G (p.Ile244Ser) n.2327T>G c.806T>G (p.Ile269Ser) c.758T>G (p.Ile253Ser) c.683T>G (p.Ile228Ser) c.626T>G (p.Ile209Ser) | |
| 3 | g.30671915T>A | CA433058559 | TGFBR2 | c.732T>A (p.Ile244=) n.2328T>A c.807T>A (p.Ile269=) c.759T>A (p.Ile253=) c.684T>A (p.Ile228=) c.627T>A (p.Ile209=) | |
| 3 | g.30671915T>C | CA433058561 | TGFBR2 | c.732T>C (p.Ile244=) n.2328T>C c.807T>C (p.Ile269=) c.759T>C (p.Ile253=) c.684T>C (p.Ile228=) c.627T>C (p.Ile209=) | |
| 3 | g.30671915T>G | CA351807751 | TGFBR2 | c.732T>G (p.Ile244Met) n.2328T>G c.807T>G (p.Ile269Met) c.759T>G (p.Ile253Met) c.684T>G (p.Ile228Met) c.627T>G (p.Ile209Met) | |
| 3 | g.30671916G>A | CA351807752 | TGFBR2 | c.733G>A (p.Glu245Lys) n.2329G>A c.808G>A (p.Glu270Lys) c.760G>A (p.Glu254Lys) c.685G>A (p.Glu229Lys) c.628G>A (p.Glu210Lys) | |
| 3 | g.30671916G>C | CA351807753 | TGFBR2 | c.733G>C (p.Glu245Gln) n.2329G>C c.808G>C (p.Glu270Gln) c.760G>C (p.Glu254Gln) c.685G>C (p.Glu229Gln) c.628G>C (p.Glu210Gln) | |
| 3 | g.30671916G>T | CA351807754 | TGFBR2 | c.733G>T (p.Glu245Ter) n.2329G>T c.808G>T (p.Glu270Ter) c.760G>T (p.Glu254Ter) c.685G>T (p.Glu229Ter) c.628G>T (p.Glu210Ter) | |
| 3 | g.30671917A>C | CA351807755 | TGFBR2 | c.734A>C (p.Glu245Ala) n.2330A>C c.809A>C (p.Glu270Ala) c.761A>C (p.Glu254Ala) c.686A>C (p.Glu229Ala) c.629A>C (p.Glu210Ala) | |
| 3 | g.30671917A>G | CA351807756 | TGFBR2 | c.734A>G (p.Glu245Gly) n.2330A>G c.809A>G (p.Glu270Gly) c.761A>G (p.Glu254Gly) c.686A>G (p.Glu229Gly) c.629A>G (p.Glu210Gly) | |
| 3 | g.30671917A>T | CA351807757 | TGFBR2 | c.734A>T (p.Glu245Val) n.2330A>T c.809A>T (p.Glu270Val) c.761A>T (p.Glu254Val) c.686A>T (p.Glu229Val) c.629A>T (p.Glu210Val) | dbSNP |
| 3 | g.30671918G>A | CA433058564 | TGFBR2 | c.735G>A (p.Glu245=) n.2331G>A c.810G>A (p.Glu270=) c.762G>A (p.Glu254=) c.687G>A (p.Glu229=) c.630G>A (p.Glu210=) | gnomAD v4 |
| 3 | g.30671918G>C | CA351807759 | TGFBR2 | c.735G>C (p.Glu245Asp) n.2331G>C c.810G>C (p.Glu270Asp) c.762G>C (p.Glu254Asp) c.687G>C (p.Glu229Asp) c.630G>C (p.Glu210Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30671918G= | CA1354873050 | TGFBR2 | c.735G= (p.Glu245=) n.2331G= c.810G= (p.Glu270=) c.762G= (p.Glu254=) c.687G= (p.Glu229=) c.630G= (p.Glu210=) | |
| 3 | g.30671918G>T | CA351807758 | TGFBR2 | c.735G>T (p.Glu245Asp) n.2331G>T c.810G>T (p.Glu270Asp) c.762G>T (p.Glu254Asp) c.687G>T (p.Glu229Asp) c.630G>T (p.Glu210Asp) | |
| 3 | g.30671919C>A | CA351807760 | TGFBR2 | c.736C>A (p.Leu246Met) n.2332C>A c.811C>A (p.Leu271Met) c.763C>A (p.Leu255Met) c.688C>A (p.Leu230Met) c.631C>A (p.Leu211Met) | |
| 3 | g.30671919C= | CA1354873051 | TGFBR2 | c.736C= (p.Leu246=) n.2332C= c.811C= (p.Leu271=) c.763C= (p.Leu255=) c.688C= (p.Leu230=) c.631C= (p.Leu211=) | |
| 3 | g.30671919C>G | CA351807761 | TGFBR2 | c.736C>G (p.Leu246Val) n.2332C>G c.811C>G (p.Leu271Val) c.763C>G (p.Leu255Val) c.688C>G (p.Leu230Val) c.631C>G (p.Leu211Val) | |
| 3 | g.30671919C>T | CA10618021 | TGFBR2 | c.736C>T (p.Leu246=) n.2332C>T c.811C>T (p.Leu271=) c.763C>T (p.Leu255=) c.688C>T (p.Leu230=) c.631C>T (p.Leu211=) | ClinVar dbSNP |
| 3 | g.30671920T>A | CA351807762 | TGFBR2 | c.737T>A (p.Leu246Gln) n.2333T>A c.812T>A (p.Leu271Gln) c.764T>A (p.Leu255Gln) c.689T>A (p.Leu230Gln) c.632T>A (p.Leu211Gln) | |
| 3 | g.30671920T>C | CA351807763 | TGFBR2 | c.737T>C (p.Leu246Pro) n.2333T>C c.812T>C (p.Leu271Pro) c.764T>C (p.Leu255Pro) c.689T>C (p.Leu230Pro) c.632T>C (p.Leu211Pro) | |
| 3 | g.30671920T>G | CA351807764 | TGFBR2 | c.737T>G (p.Leu246Arg) n.2333T>G c.812T>G (p.Leu271Arg) c.764T>G (p.Leu255Arg) c.689T>G (p.Leu230Arg) c.632T>G (p.Leu211Arg) | |
| 3 | g.30671921G>A | CA433058569 | TGFBR2 | c.738G>A (p.Leu246=) n.2334G>A c.813G>A (p.Leu271=) c.765G>A (p.Leu255=) c.690G>A (p.Leu230=) c.633G>A (p.Leu211=) | dbSNP |
| 3 | g.30671921G>C | CA433058572 | TGFBR2 | c.738G>C (p.Leu246=) n.2334G>C c.813G>C (p.Leu271=) c.765G>C (p.Leu255=) c.690G>C (p.Leu230=) c.633G>C (p.Leu211=) | |
| 3 | g.30671921G>T | CA433058570 | TGFBR2 | c.738G>T (p.Leu246=) n.2334G>T c.813G>T (p.Leu271=) c.765G>T (p.Leu255=) c.690G>T (p.Leu230=) c.633G>T (p.Leu211=) | dbSNP |
| 3 | g.30671922G>A | CA351807765 | TGFBR2 | c.739G>A (p.Asp247Asn) n.2335G>A c.814G>A (p.Asp272Asn) c.766G>A (p.Asp256Asn) c.691G>A (p.Asp231Asn) c.634G>A (p.Asp212Asn) | |
| 3 | g.30671922G>C | CA351807767 | TGFBR2 | c.739G>C (p.Asp247His) n.2335G>C c.814G>C (p.Asp272His) c.766G>C (p.Asp256His) c.691G>C (p.Asp231His) c.634G>C (p.Asp212His) | dbSNP gnomAD v4 |
| 3 | g.30671922G>T | CA351807766 | TGFBR2 | c.739G>T (p.Asp247Tyr) n.2335G>T c.814G>T (p.Asp272Tyr) c.766G>T (p.Asp256Tyr) c.691G>T (p.Asp231Tyr) c.634G>T (p.Asp212Tyr) | |
| 3 | g.30671923A= | CA1354873052 | TGFBR2 | c.740A= (p.Asp247=) n.2336A= c.815A= (p.Asp272=) c.767A= (p.Asp256=) c.692A= (p.Asp231=) c.635A= (p.Asp212=) | |
| 3 | g.30671923A>C | CA351807768 | TGFBR2 | c.740A>C (p.Asp247Ala) n.2336A>C c.815A>C (p.Asp272Ala) c.767A>C (p.Asp256Ala) c.692A>C (p.Asp231Ala) c.635A>C (p.Asp212Ala) | |
| 3 | g.30671923A>G | CA351807769 | TGFBR2 | c.740A>G (p.Asp247Gly) n.2336A>G c.815A>G (p.Asp272Gly) c.767A>G (p.Asp256Gly) c.692A>G (p.Asp231Gly) c.635A>G (p.Asp212Gly) | |
| 3 | g.30671923A>T | CA049770 | TGFBR2 | c.740A>T (p.Asp247Val) n.2336A>T c.815A>T (p.Asp272Val) c.767A>T (p.Asp256Val) c.692A>T (p.Asp231Val) c.635A>T (p.Asp212Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671924C>A | CA351807770 | TGFBR2 | c.741C>A (p.Asp247Glu) n.2337C>A c.816C>A (p.Asp272Glu) c.768C>A (p.Asp256Glu) c.693C>A (p.Asp231Glu) c.636C>A (p.Asp212Glu) | |
| 3 | g.30671924C= | CA1354873053 | TGFBR2 | c.741C= (p.Asp247=) n.2337C= c.816C= (p.Asp272=) c.768C= (p.Asp256=) c.693C= (p.Asp231=) c.636C= (p.Asp212=) | |
| 3 | g.30671924C>G | CA351807771 | TGFBR2 | c.741C>G (p.Asp247Glu) n.2337C>G c.816C>G (p.Asp272Glu) c.768C>G (p.Asp256Glu) c.693C>G (p.Asp231Glu) c.636C>G (p.Asp212Glu) | dbSNP |
| 3 | g.30671924C>T | CA049780 | TGFBR2 | c.741C>T (p.Asp247=) n.2337C>T c.816C>T (p.Asp272=) c.768C>T (p.Asp256=) c.693C>T (p.Asp231=) c.636C>T (p.Asp212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30671925A= | CA1354873054 | TGFBR2 | c.742A= (p.Thr248=) n.2338A= c.817A= (p.Thr273=) c.769A= (p.Thr257=) c.694A= (p.Thr232=) c.637A= (p.Thr213=) | |
| 3 | g.30671925A>C | CA351807772 | TGFBR2 | c.742A>C (p.Thr248Pro) n.2338A>C c.817A>C (p.Thr273Pro) c.769A>C (p.Thr257Pro) c.694A>C (p.Thr232Pro) c.637A>C (p.Thr213Pro) | |
| 3 | g.30671925A>G | CA351807773 | TGFBR2 | c.742A>G (p.Thr248Ala) n.2338A>G c.817A>G (p.Thr273Ala) c.769A>G (p.Thr257Ala) c.694A>G (p.Thr232Ala) c.637A>G (p.Thr213Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30671925A>T | CA351807774 | TGFBR2 | c.742A>T (p.Thr248Ser) n.2338A>T c.817A>T (p.Thr273Ser) c.769A>T (p.Thr257Ser) c.694A>T (p.Thr232Ser) c.637A>T (p.Thr213Ser) | |
| 3 | g.30671926C>A | CA351807775 | TGFBR2 | c.743C>A (p.Thr248Asn) n.2339C>A c.818C>A (p.Thr273Asn) c.770C>A (p.Thr257Asn) c.695C>A (p.Thr232Asn) c.638C>A (p.Thr213Asn) | |
| 3 | g.30671926C>G | CA351807776 | TGFBR2 | c.743C>G (p.Thr248Ser) n.2339C>G c.818C>G (p.Thr273Ser) c.770C>G (p.Thr257Ser) c.695C>G (p.Thr232Ser) c.638C>G (p.Thr213Ser) | dbSNP |
| 3 | g.30671926C>T | CA351807777 | TGFBR2 | c.743C>T (p.Thr248Ile) n.2339C>T c.818C>T (p.Thr273Ile) c.770C>T (p.Thr257Ile) c.695C>T (p.Thr232Ile) c.638C>T (p.Thr213Ile) | gnomAD v4 COSMIC COSMIC |
| 3 | g.30671927C>A | CA433058578 | TGFBR2 | c.744C>A (p.Thr248=) n.2340C>A c.819C>A (p.Thr273=) c.771C>A (p.Thr257=) c.696C>A (p.Thr232=) c.639C>A (p.Thr213=) | dbSNP |
| 3 | g.30671927C= | CA1354873055 | TGFBR2 | c.744C= (p.Thr248=) n.2340C= c.819C= (p.Thr273=) c.771C= (p.Thr257=) c.696C= (p.Thr232=) c.639C= (p.Thr213=) | |
| 3 | g.30671927C>G | CA433058579 | TGFBR2 | c.744C>G (p.Thr248=) n.2340C>G c.819C>G (p.Thr273=) c.771C>G (p.Thr257=) c.696C>G (p.Thr232=) c.639C>G (p.Thr213=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671927C>T | CA433058580 | TGFBR2 | c.744C>T (p.Thr248=) n.2340C>T c.819C>T (p.Thr273=) c.771C>T (p.Thr257=) c.696C>T (p.Thr232=) c.639C>T (p.Thr213=) | dbSNP |
| 3 | g.30671928C>A | CA351807779 | TGFBR2 | c.745C>A (p.Leu249Met) n.2341C>A c.820C>A (p.Leu274Met) c.772C>A (p.Leu258Met) c.697C>A (p.Leu233Met) c.640C>A (p.Leu214Met) | dbSNP |
| 3 | g.30671928C= | CA1354873056 | TGFBR2 | c.745C= (p.Leu249=) n.2341C= c.820C= (p.Leu274=) c.772C= (p.Leu258=) c.697C= (p.Leu233=) c.640C= (p.Leu214=) | |
| 3 | g.30671928C>G | CA351807778 | TGFBR2 | c.745C>G (p.Leu249Val) n.2341C>G c.820C>G (p.Leu274Val) c.772C>G (p.Leu258Val) c.697C>G (p.Leu233Val) c.640C>G (p.Leu214Val) | dbSNP gnomAD v4 |
| 3 | g.30671928C>T | CA433058583 | TGFBR2 | c.745C>T (p.Leu249=) n.2341C>T c.820C>T (p.Leu274=) c.772C>T (p.Leu258=) c.697C>T (p.Leu233=) c.640C>T (p.Leu214=) | |
| 3 | g.30671929T>A | CA351807780 | TGFBR2 | c.746T>A (p.Leu249Gln) n.2342T>A c.821T>A (p.Leu274Gln) c.773T>A (p.Leu258Gln) c.698T>A (p.Leu233Gln) c.641T>A (p.Leu214Gln) | |
| 3 | g.30671929T>C | CA351807781 | TGFBR2 | c.746T>C (p.Leu249Pro) n.2342T>C c.821T>C (p.Leu274Pro) c.773T>C (p.Leu258Pro) c.698T>C (p.Leu233Pro) c.641T>C (p.Leu214Pro) | |
| 3 | g.30671929T>G | CA351807782 | TGFBR2 | c.746T>G (p.Leu249Arg) n.2342T>G c.821T>G (p.Leu274Arg) c.773T>G (p.Leu258Arg) c.698T>G (p.Leu233Arg) c.641T>G (p.Leu214Arg) | |
| 3 | g.30671930G>A | CA10587566 | TGFBR2 | c.747G>A (p.Leu249=) n.2343G>A c.822G>A (p.Leu274=) c.774G>A (p.Leu258=) c.699G>A (p.Leu233=) c.642G>A (p.Leu214=) | ClinVar dbSNP |
| 3 | g.30671930G>C | CA049797 | TGFBR2 | c.747G>C (p.Leu249=) n.2343G>C c.822G>C (p.Leu274=) c.774G>C (p.Leu258=) c.699G>C (p.Leu233=) c.642G>C (p.Leu214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671930G= | CA1354873057 | TGFBR2 | c.747G= (p.Leu249=) n.2343G= c.822G= (p.Leu274=) c.774G= (p.Leu258=) c.699G= (p.Leu233=) c.642G= (p.Leu214=) | |
| 3 | g.30671930G>T | CA433058584 | TGFBR2 | c.747G>T (p.Leu249=) n.2343G>T c.822G>T (p.Leu274=) c.774G>T (p.Leu258=) c.699G>T (p.Leu233=) c.642G>T (p.Leu214=) | |
| 3 | g.30671931G>A | CA351807783 | TGFBR2 | c.748G>A (p.Val250Met) n.2344G>A c.823G>A (p.Val275Met) c.775G>A (p.Val259Met) c.700G>A (p.Val234Met) c.643G>A (p.Val215Met) | |
| 3 | g.30671931G>C | CA351807784 | TGFBR2 | c.748G>C (p.Val250Leu) n.2344G>C c.823G>C (p.Val275Leu) c.775G>C (p.Val259Leu) c.700G>C (p.Val234Leu) c.643G>C (p.Val215Leu) | dbSNP |
| 3 | g.30671931G= | CA1354873058 | TGFBR2 | c.748G= (p.Val250=) n.2344G= c.823G= (p.Val275=) c.775G= (p.Val259=) c.700G= (p.Val234=) c.643G= (p.Val215=) | |
| 3 | g.30671931G>T | CA351807785 | TGFBR2 | c.748G>T (p.Val250Leu) n.2344G>T c.823G>T (p.Val275Leu) c.775G>T (p.Val259Leu) c.700G>T (p.Val234Leu) c.643G>T (p.Val215Leu) | dbSNP |
| 3 | g.30671932T>A | CA351807786 | TGFBR2 | c.749T>A (p.Val250Glu) n.2345T>A c.824T>A (p.Val275Glu) c.776T>A (p.Val259Glu) c.701T>A (p.Val234Glu) c.644T>A (p.Val215Glu) | |
| 3 | g.30671932T>C | CA351807788 | TGFBR2 | c.749T>C (p.Val250Ala) n.2345T>C c.824T>C (p.Val275Ala) c.776T>C (p.Val259Ala) c.701T>C (p.Val234Ala) c.644T>C (p.Val215Ala) | |
| 3 | g.30671932T>G | CA351807787 | TGFBR2 | c.749T>G (p.Val250Gly) n.2345T>G c.824T>G (p.Val275Gly) c.776T>G (p.Val259Gly) c.701T>G (p.Val234Gly) c.644T>G (p.Val215Gly) | |
| 3 | g.30671933G>A | CA433058587 | TGFBR2 | c.750G>A (p.Val250=) n.2346G>A c.825G>A (p.Val275=) c.777G>A (p.Val259=) c.702G>A (p.Val234=) c.645G>A (p.Val215=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30671933G>C | CA049810 | TGFBR2 | c.750G>C (p.Val250=) n.2346G>C c.825G>C (p.Val275=) c.777G>C (p.Val259=) c.702G>C (p.Val234=) c.645G>C (p.Val215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30671933G= | CA1354873059 | TGFBR2 | c.750G= (p.Val250=) n.2346G= c.825G= (p.Val275=) c.777G= (p.Val259=) c.702G= (p.Val234=) c.645G= (p.Val215=) | |
| 3 | g.30671933G>T | CA433058591 | TGFBR2 | c.750G>T (p.Val250=) n.2346G>T c.825G>T (p.Val275=) c.777G>T (p.Val259=) c.702G>T (p.Val234=) c.645G>T (p.Val215=) | |
| 3 | g.30671936del | CA433058594 | TGFBR2 | c.753del (p.Gly253ValfsTer11) n.2349del c.828del (p.Gly278ValfsTer11) c.780del (p.Gly262ValfsTer11) c.705del (p.Gly237ValfsTer11) c.648del (p.Gly218ValfsTer11) | |
| 3 | g.30671934G>A | CA351807789 | TGFBR2 | c.751G>A (p.Gly251Arg) n.2347G>A c.826G>A (p.Gly276Arg) c.778G>A (p.Gly260Arg) c.703G>A (p.Gly235Arg) c.646G>A (p.Gly216Arg) | COSMIC COSMIC |
| 3 | g.30671934G>C | CA351807790 | TGFBR2 | c.751G>C (p.Gly251Arg) n.2347G>C c.826G>C (p.Gly276Arg) c.778G>C (p.Gly260Arg) c.703G>C (p.Gly235Arg) c.646G>C (p.Gly216Arg) | gnomAD v4 |
| 3 | g.30671934G>T | CA351807791 | TGFBR2 | c.751G>T (p.Gly251Trp) n.2347G>T c.826G>T (p.Gly276Trp) c.778G>T (p.Gly260Trp) c.703G>T (p.Gly235Trp) c.646G>T (p.Gly216Trp) | |
| 3 | g.30671935G>A | CA351807792 | TGFBR2 | c.752G>A (p.Gly251Glu) n.2348G>A c.827G>A (p.Gly276Glu) c.779G>A (p.Gly260Glu) c.704G>A (p.Gly235Glu) c.647G>A (p.Gly216Glu) | dbSNP |
| 3 | g.30671935G>C | CA351807794 | TGFBR2 | c.752G>C (p.Gly251Ala) n.2348G>C c.827G>C (p.Gly276Ala) c.779G>C (p.Gly260Ala) c.704G>C (p.Gly235Ala) c.647G>C (p.Gly216Ala) | |
| 3 | g.30671935G>T | CA351807793 | TGFBR2 | c.752G>T (p.Gly251Val) n.2348G>T c.827G>T (p.Gly276Val) c.779G>T (p.Gly260Val) c.704G>T (p.Gly235Val) c.647G>T (p.Gly216Val) | |
| 3 | g.30671936G>A | CA433058596 | TGFBR2 | c.753G>A (p.Gly251=) n.2349G>A c.828G>A (p.Gly276=) c.780G>A (p.Gly260=) c.705G>A (p.Gly235=) c.648G>A (p.Gly216=) | ClinVar dbSNP |
| 3 | g.30671936G>C | CA433058598 | TGFBR2 | c.753G>C (p.Gly251=) n.2349G>C c.828G>C (p.Gly276=) c.780G>C (p.Gly260=) c.705G>C (p.Gly235=) c.648G>C (p.Gly216=) | |
| 3 | g.30671936G= | CA1354873060 | TGFBR2 | c.753G= (p.Gly251=) n.2349G= c.828G= (p.Gly276=) c.780G= (p.Gly260=) c.705G= (p.Gly235=) c.648G= (p.Gly216=) | |
| 3 | g.30671936G>T | CA049822 | TGFBR2 | c.753G>T (p.Gly251=) n.2349G>T c.828G>T (p.Gly276=) c.780G>T (p.Gly260=) c.705G>T (p.Gly235=) c.648G>T (p.Gly216=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30671937A>C | CA351807795 | TGFBR2 | c.754A>C (p.Lys252Gln) n.2350A>C c.829A>C (p.Lys277Gln) c.781A>C (p.Lys261Gln) c.706A>C (p.Lys236Gln) c.649A>C (p.Lys217Gln) | gnomAD v4 |
| 3 | g.30671937A>G | CA351807796 | TGFBR2 | c.754A>G (p.Lys252Glu) n.2350A>G c.829A>G (p.Lys277Glu) c.781A>G (p.Lys261Glu) c.706A>G (p.Lys236Glu) c.649A>G (p.Lys217Glu) | |
| 3 | g.30671937A>T | CA351807797 | TGFBR2 | c.754A>T (p.Lys252Ter) n.2350A>T c.829A>T (p.Lys277Ter) c.781A>T (p.Lys261Ter) c.706A>T (p.Lys236Ter) c.649A>T (p.Lys217Ter) | |
| 3 | g.30671938A= | CA1354873061 | TGFBR2 | c.755A= (p.Lys252=) n.2351A= c.830A= (p.Lys277=) c.782A= (p.Lys261=) c.707A= (p.Lys236=) c.650A= (p.Lys217=) | |
| 3 | g.30671938A>C | CA351807798 | TGFBR2 | c.755A>C (p.Lys252Thr) n.2351A>C c.830A>C (p.Lys277Thr) c.782A>C (p.Lys261Thr) c.707A>C (p.Lys236Thr) c.650A>C (p.Lys217Thr) | |
| 3 | g.30671938A>G | CA351807799 | TGFBR2 | c.755A>G (p.Lys252Arg) n.2351A>G c.830A>G (p.Lys277Arg) c.782A>G (p.Lys261Arg) c.707A>G (p.Lys236Arg) c.650A>G (p.Lys217Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30671938A>T | CA351807800 | TGFBR2 | c.755A>T (p.Lys252Ile) n.2351A>T c.830A>T (p.Lys277Ile) c.782A>T (p.Lys261Ile) c.707A>T (p.Lys236Ile) c.650A>T (p.Lys217Ile) | |
| 3 | g.30671939A= | CA1354873062 | TGFBR2 | c.756A= (p.Lys252=) n.2352A= c.831A= (p.Lys277=) c.783A= (p.Lys261=) c.708A= (p.Lys236=) c.651A= (p.Lys217=) | |
| 3 | g.30671939A>C | CA351807801 | TGFBR2 | c.756A>C (p.Lys252Asn) n.2352A>C c.831A>C (p.Lys277Asn) c.783A>C (p.Lys261Asn) c.708A>C (p.Lys236Asn) c.651A>C (p.Lys217Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671939A>G | CA433058604 | TGFBR2 | c.756A>G (p.Lys252=) n.2352A>G c.831A>G (p.Lys277=) c.783A>G (p.Lys261=) c.708A>G (p.Lys236=) c.651A>G (p.Lys217=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30671939A>T | CA351807802 | TGFBR2 | c.756A>T (p.Lys252Asn) n.2352A>T c.831A>T (p.Lys277Asn) c.783A>T (p.Lys261Asn) c.708A>T (p.Lys236Asn) c.651A>T (p.Lys217Asn) | |
| 3 | g.30671940G>A | CA351807803 | TGFBR2 | c.757G>A (p.Gly253Ser) n.2353G>A c.832G>A (p.Gly278Ser) c.784G>A (p.Gly262Ser) c.709G>A (p.Gly237Ser) c.652G>A (p.Gly218Ser) | ClinVar dbSNP |
| 3 | g.30671940G>C | CA351807804 | TGFBR2 | c.757G>C (p.Gly253Arg) n.2353G>C c.832G>C (p.Gly278Arg) c.784G>C (p.Gly262Arg) c.709G>C (p.Gly237Arg) c.652G>C (p.Gly218Arg) | |
| 3 | g.30671940G= | CA1354873063 | TGFBR2 | c.757G= (p.Gly253=) n.2353G= c.832G= (p.Gly278=) c.784G= (p.Gly262=) c.709G= (p.Gly237=) c.652G= (p.Gly218=) | |
| 3 | g.30671940G>T | CA351807805 | TGFBR2 | c.757G>T (p.Gly253Cys) n.2353G>T c.832G>T (p.Gly278Cys) c.784G>T (p.Gly262Cys) c.709G>T (p.Gly237Cys) c.652G>T (p.Gly218Cys) | |
| 3 | g.30671941G>A | CA351807806 | TGFBR2 | c.758G>A (p.Gly253Asp) n.2354G>A c.833G>A (p.Gly278Asp) c.785G>A (p.Gly262Asp) c.710G>A (p.Gly237Asp) c.653G>A (p.Gly218Asp) | |
| 3 | g.30671941G>C | CA351807808 | TGFBR2 | c.758G>C (p.Gly253Ala) n.2354G>C c.833G>C (p.Gly278Ala) c.785G>C (p.Gly262Ala) c.710G>C (p.Gly237Ala) c.653G>C (p.Gly218Ala) | dbSNP |
| 3 | g.30671941G= | CA1354873064 | TGFBR2 | c.758G= (p.Gly253=) n.2354G= c.833G= (p.Gly278=) c.785G= (p.Gly262=) c.710G= (p.Gly237=) c.653G= (p.Gly218=) | |
| 3 | g.30671941G>T | CA351807807 | TGFBR2 | c.758G>T (p.Gly253Val) n.2354G>T c.833G>T (p.Gly278Val) c.785G>T (p.Gly262Val) c.710G>T (p.Gly237Val) c.653G>T (p.Gly218Val) | ClinVar dbSNP |
| 3 | g.30671942T>A | CA433058609 | TGFBR2 | c.759T>A (p.Gly253=) n.2355T>A c.834T>A (p.Gly278=) c.786T>A (p.Gly262=) c.711T>A (p.Gly237=) c.654T>A (p.Gly218=) | |
| 3 | g.30671942T>C | CA433058611 | TGFBR2 | c.759T>C (p.Gly253=) n.2355T>C c.834T>C (p.Gly278=) c.786T>C (p.Gly262=) c.711T>C (p.Gly237=) c.654T>C (p.Gly218=) | gnomAD v4 |
| 3 | g.30671942T>G | CA433058613 | TGFBR2 | c.759T>G (p.Gly253=) n.2355T>G c.834T>G (p.Gly278=) c.786T>G (p.Gly262=) c.711T>G (p.Gly237=) c.654T>G (p.Gly218=) | |
| 3 | g.30671943C>A | CA351807809 | TGFBR2 | c.760C>A (p.Arg254Ser) n.2356C>A c.835C>A (p.Arg279Ser) c.787C>A (p.Arg263Ser) c.712C>A (p.Arg238Ser) c.655C>A (p.Arg219Ser) | |
| 3 | g.30671943C= | CA1354873065 | TGFBR2 | c.760C= (p.Arg254=) n.2356C= c.835C= (p.Arg279=) c.787C= (p.Arg263=) c.712C= (p.Arg238=) c.655C= (p.Arg219=) | |
| 3 | g.30671943C>G | CA351807810 | TGFBR2 | c.760C>G (p.Arg254Gly) n.2356C>G c.835C>G (p.Arg279Gly) c.787C>G (p.Arg263Gly) c.712C>G (p.Arg238Gly) c.655C>G (p.Arg219Gly) | |
| 3 | g.30671943C>T | CA323430 | TGFBR2 | c.760C>T (p.Arg254Cys) n.2356C>T c.835C>T (p.Arg279Cys) c.787C>T (p.Arg263Cys) c.712C>T (p.Arg238Cys) c.655C>T (p.Arg219Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30671944G>A | CA049848 | TGFBR2 | c.761G>A (p.Arg254His) n.2357G>A c.836G>A (p.Arg279His) c.788G>A (p.Arg263His) c.713G>A (p.Arg238His) c.656G>A (p.Arg219His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.30671944G>C | CA351807811 | TGFBR2 | c.761G>C (p.Arg254Pro) n.2357G>C c.836G>C (p.Arg279Pro) c.788G>C (p.Arg263Pro) c.713G>C (p.Arg238Pro) c.656G>C (p.Arg219Pro) | |
| 3 | g.30671944G= | CA1354873066 | TGFBR2 | c.761G= (p.Arg254=) n.2357G= c.836G= (p.Arg279=) c.788G= (p.Arg263=) c.713G= (p.Arg238=) c.656G= (p.Arg219=) | |
| 3 | g.30671944G>T | CA351807812 | TGFBR2 | c.761G>T (p.Arg254Leu) n.2357G>T c.836G>T (p.Arg279Leu) c.788G>T (p.Arg263Leu) c.713G>T (p.Arg238Leu) c.656G>T (p.Arg219Leu) | dbSNP |
| 3 | g.30671945C>A | CA433058618 | TGFBR2 | c.762C>A (p.Arg254=) n.2358C>A c.837C>A (p.Arg279=) c.789C>A (p.Arg263=) c.714C>A (p.Arg238=) c.657C>A (p.Arg219=) | |
| 3 | g.30671945C>G | CA433058620 | TGFBR2 | c.762C>G (p.Arg254=) n.2358C>G c.837C>G (p.Arg279=) c.789C>G (p.Arg263=) c.714C>G (p.Arg238=) c.657C>G (p.Arg219=) | |
| 3 | g.30671945C>T | CA433058623 | TGFBR2 | c.762C>T (p.Arg254=) n.2358C>T c.837C>T (p.Arg279=) c.789C>T (p.Arg263=) c.714C>T (p.Arg238=) c.657C>T (p.Arg219=) | |
| 3 | g.30671946T>A | CA351807813 | TGFBR2 | c.763T>A (p.Phe255Ile) n.2359T>A c.838T>A (p.Phe280Ile) c.790T>A (p.Phe264Ile) c.715T>A (p.Phe239Ile) c.658T>A (p.Phe220Ile) | |
| 3 | g.30671946T>C | CA351807814 | TGFBR2 | c.763T>C (p.Phe255Leu) n.2359T>C c.838T>C (p.Phe280Leu) c.790T>C (p.Phe264Leu) c.715T>C (p.Phe239Leu) c.658T>C (p.Phe220Leu) | |
| 3 | g.30671946T>G | CA351807815 | TGFBR2 | c.763T>G (p.Phe255Val) n.2359T>G c.838T>G (p.Phe280Val) c.790T>G (p.Phe264Val) c.715T>G (p.Phe239Val) c.658T>G (p.Phe220Val) | |
| 3 | g.30671947T>A | CA351807816 | TGFBR2 | c.764T>A (p.Phe255Tyr) n.2360T>A c.839T>A (p.Phe280Tyr) c.791T>A (p.Phe264Tyr) c.716T>A (p.Phe239Tyr) c.659T>A (p.Phe220Tyr) | |
| 3 | g.30671947T>C | CA351807817 | TGFBR2 | c.764T>C (p.Phe255Ser) n.2360T>C c.839T>C (p.Phe280Ser) c.791T>C (p.Phe264Ser) c.716T>C (p.Phe239Ser) c.659T>C (p.Phe220Ser) | |
| 3 | g.30671947T>G | CA351807818 | TGFBR2 | c.764T>G (p.Phe255Cys) n.2360T>G c.839T>G (p.Phe280Cys) c.791T>G (p.Phe264Cys) c.716T>G (p.Phe239Cys) c.659T>G (p.Phe220Cys) | |
| 3 | g.30671948T>A | CA351807819 | TGFBR2 | c.765T>A (p.Phe255Leu) n.2361T>A c.840T>A (p.Phe280Leu) c.792T>A (p.Phe264Leu) c.717T>A (p.Phe239Leu) c.660T>A (p.Phe220Leu) | |
| 3 | g.30671948T>C | CA433058626 | TGFBR2 | c.765T>C (p.Phe255=) n.2361T>C c.840T>C (p.Phe280=) c.792T>C (p.Phe264=) c.717T>C (p.Phe239=) c.660T>C (p.Phe220=) | |
| 3 | g.30671948T>G | CA351807820 | TGFBR2 | c.765T>G (p.Phe255Leu) n.2361T>G c.840T>G (p.Phe280Leu) c.792T>G (p.Phe264Leu) c.717T>G (p.Phe239Leu) c.660T>G (p.Phe220Leu) | |
| 3 | g.30671949G>A | CA351807823 | TGFBR2 | c.766G>A (p.Ala256Thr) n.2362G>A c.841G>A (p.Ala281Thr) c.793G>A (p.Ala265Thr) c.718G>A (p.Ala240Thr) c.661G>A (p.Ala221Thr) | dbSNP |
| 3 | g.30671949G>C | CA351807821 | TGFBR2 | c.766G>C (p.Ala256Pro) n.2362G>C c.841G>C (p.Ala281Pro) c.793G>C (p.Ala265Pro) c.718G>C (p.Ala240Pro) c.661G>C (p.Ala221Pro) | ClinVar |
| 3 | g.30671949G>T | CA351807822 | TGFBR2 | c.766G>T (p.Ala256Ser) n.2362G>T c.841G>T (p.Ala281Ser) c.793G>T (p.Ala265Ser) c.718G>T (p.Ala240Ser) c.661G>T (p.Ala221Ser) | |
| 3 | g.30671950C>A | CA351807824 | TGFBR2 | c.767C>A (p.Ala256Asp) n.2363C>A c.842C>A (p.Ala281Asp) c.794C>A (p.Ala265Asp) c.719C>A (p.Ala240Asp) c.662C>A (p.Ala221Asp) | dbSNP |
| 3 | g.30671950C>G | CA351807825 | TGFBR2 | c.767C>G (p.Ala256Gly) n.2363C>G c.842C>G (p.Ala281Gly) c.794C>G (p.Ala265Gly) c.719C>G (p.Ala240Gly) c.662C>G (p.Ala221Gly) | dbSNP |
| 3 | g.30671950C>T | CA351807826 | TGFBR2 | c.767C>T (p.Ala256Val) n.2363C>T c.842C>T (p.Ala281Val) c.794C>T (p.Ala265Val) c.719C>T (p.Ala240Val) c.662C>T (p.Ala221Val) | dbSNP |
| 3 | g.30671951T>A | CA433058632 | TGFBR2 | c.768T>A (p.Ala256=) n.2364T>A c.843T>A (p.Ala281=) c.795T>A (p.Ala265=) c.720T>A (p.Ala240=) c.663T>A (p.Ala221=) | |
| 3 | g.30671951T>C | CA433058634 | TGFBR2 | c.768T>C (p.Ala256=) n.2364T>C c.843T>C (p.Ala281=) c.795T>C (p.Ala265=) c.720T>C (p.Ala240=) c.663T>C (p.Ala221=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30671951T>G | CA433058633 | TGFBR2 | c.768T>G (p.Ala256=) n.2364T>G c.843T>G (p.Ala281=) c.795T>G (p.Ala265=) c.720T>G (p.Ala240=) c.663T>G (p.Ala221=) | |
| 3 | g.30671951T= | CA1354873067 | TGFBR2 | c.768T= (p.Ala256=) n.2364T= c.843T= (p.Ala281=) c.795T= (p.Ala265=) c.720T= (p.Ala240=) c.663T= (p.Ala221=) | |
| 3 | g.30671951dup | CA2664867665 | TGFBR2 | c.768dup (p.Glu257Ter) n.2364dup c.843dup (p.Glu282Ter) c.795dup (p.Glu266Ter) c.720dup (p.Glu241Ter) c.663dup (p.Glu222Ter) | gnomAD v4 |
| 3 | g.30671952G>A | CA351807827 | TGFBR2 | c.769G>A (p.Glu257Lys) n.2365G>A c.844G>A (p.Glu282Lys) c.796G>A (p.Glu266Lys) c.721G>A (p.Glu241Lys) c.664G>A (p.Glu222Lys) | COSMIC COSMIC |
| 3 | g.30671952G>C | CA351807828 | TGFBR2 | c.769G>C (p.Glu257Gln) n.2365G>C c.844G>C (p.Glu282Gln) c.796G>C (p.Glu266Gln) c.721G>C (p.Glu241Gln) c.664G>C (p.Glu222Gln) | |
| 3 | g.30671952G>T | CA351807829 | TGFBR2 | c.769G>T (p.Glu257Ter) n.2365G>T c.844G>T (p.Glu282Ter) c.796G>T (p.Glu266Ter) c.721G>T (p.Glu241Ter) c.664G>T (p.Glu222Ter) | |
| 3 | g.30671953A>C | CA351807830 | TGFBR2 | c.770A>C (p.Glu257Ala) n.2366A>C c.845A>C (p.Glu282Ala) c.797A>C (p.Glu266Ala) c.722A>C (p.Glu241Ala) c.665A>C (p.Glu222Ala) | |
| 3 | g.30671953A>G | CA351807831 | TGFBR2 | c.770A>G (p.Glu257Gly) n.2366A>G c.845A>G (p.Glu282Gly) c.797A>G (p.Glu266Gly) c.722A>G (p.Glu241Gly) c.665A>G (p.Glu222Gly) | ClinVar dbSNP |
| 3 | g.30671953A>T | CA351807832 | TGFBR2 | c.770A>T (p.Glu257Val) n.2366A>T c.845A>T (p.Glu282Val) c.797A>T (p.Glu266Val) c.722A>T (p.Glu241Val) c.665A>T (p.Glu222Val) | |
| 3 | g.30671954G>A | CA433058636 | TGFBR2 | c.771G>A (p.Glu257=) n.2367G>A c.846G>A (p.Glu282=) c.798G>A (p.Glu266=) c.723G>A (p.Glu241=) c.666G>A (p.Glu222=) | |
| 3 | g.30671954G>C | CA351807833 | TGFBR2 | c.771G>C (p.Glu257Asp) n.2367G>C c.846G>C (p.Glu282Asp) c.798G>C (p.Glu266Asp) c.723G>C (p.Glu241Asp) c.666G>C (p.Glu222Asp) | COSMIC COSMIC |
| 3 | g.30671954G>T | CA351807834 | TGFBR2 | c.771G>T (p.Glu257Asp) n.2367G>T c.846G>T (p.Glu282Asp) c.798G>T (p.Glu266Asp) c.723G>T (p.Glu241Asp) c.666G>T (p.Glu222Asp) | |
| 3 | g.30671955G>A | CA351807836 | TGFBR2 | c.772G>A (p.Val258Ile) n.2368G>A c.847G>A (p.Val283Ile) c.799G>A (p.Val267Ile) c.724G>A (p.Val242Ile) c.667G>A (p.Val223Ile) | |
| 3 | g.30671955G>C | CA71528083 | TGFBR2 | c.772G>C (p.Val258Leu) n.2368G>C c.847G>C (p.Val283Leu) c.799G>C (p.Val267Leu) c.724G>C (p.Val242Leu) c.667G>C (p.Val223Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30671955G= | CA1354873068 | TGFBR2 | c.772G= (p.Val258=) n.2368G= c.847G= (p.Val283=) c.799G= (p.Val267=) c.724G= (p.Val242=) c.667G= (p.Val223=) | |
| 3 | g.30671955G>T | CA351807835 | TGFBR2 | c.772G>T (p.Val258Phe) n.2368G>T c.847G>T (p.Val283Phe) c.799G>T (p.Val267Phe) c.724G>T (p.Val242Phe) c.667G>T (p.Val223Phe) | |
| 3 | g.30671956T>A | CA351696 | TGFBR2 | c.773T>A (p.Val258Asp) n.2369T>A c.848T>A (p.Val283Asp) c.800T>A (p.Val267Asp) c.725T>A (p.Val242Asp) c.668T>A (p.Val223Asp) | ClinVar dbSNP |
| 3 | g.30671956T>C | CA351807837 | TGFBR2 | c.773T>C (p.Val258Ala) n.2369T>C c.848T>C (p.Val283Ala) c.800T>C (p.Val267Ala) c.725T>C (p.Val242Ala) c.668T>C (p.Val223Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30671956T>G | CA351807838 | TGFBR2 | c.773T>G (p.Val258Gly) n.2369T>G c.848T>G (p.Val283Gly) c.800T>G (p.Val267Gly) c.725T>G (p.Val242Gly) c.668T>G (p.Val223Gly) | |
| 3 | g.30671956T= | CA1354873069 | TGFBR2 | c.773T= (p.Val258=) n.2369T= c.848T= (p.Val283=) c.800T= (p.Val267=) c.725T= (p.Val242=) c.668T= (p.Val223=) | |
| 3 | g.30671957C>A | CA433058643 | TGFBR2 | c.774C>A (p.Val258=) n.2370C>A c.849C>A (p.Val283=) c.801C>A (p.Val267=) c.726C>A (p.Val242=) c.669C>A (p.Val223=) | |
| 3 | g.30671957C>G | CA433058644 | TGFBR2 | c.774C>G (p.Val258=) n.2370C>G c.849C>G (p.Val283=) c.801C>G (p.Val267=) c.726C>G (p.Val242=) c.669C>G (p.Val223=) | dbSNP |
| 3 | g.30671957C>T | CA433058645 | TGFBR2 | c.774C>T (p.Val258=) n.2370C>T c.849C>T (p.Val283=) c.801C>T (p.Val267=) c.726C>T (p.Val242=) c.669C>T (p.Val223=) | dbSNP |
| 3 | g.30671958T>A | CA351807839 | TGFBR2 | c.775T>A (p.Tyr259Asn) n.2371T>A c.850T>A (p.Tyr284Asn) c.802T>A (p.Tyr268Asn) c.727T>A (p.Tyr243Asn) c.670T>A (p.Tyr224Asn) | |
| 3 | g.30671958T>C | CA049865 | TGFBR2 | c.775T>C (p.Tyr259His) n.2371T>C c.850T>C (p.Tyr284His) c.802T>C (p.Tyr268His) c.727T>C (p.Tyr243His) c.670T>C (p.Tyr224His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30671958T>G | CA351807840 | TGFBR2 | c.775T>G (p.Tyr259Asp) n.2371T>G c.850T>G (p.Tyr284Asp) c.802T>G (p.Tyr268Asp) c.727T>G (p.Tyr243Asp) c.670T>G (p.Tyr224Asp) | COSMIC COSMIC |
| 3 | g.30671958T= | CA1354873070 | TGFBR2 | c.775T= (p.Tyr259=) n.2371T= c.850T= (p.Tyr284=) c.802T= (p.Tyr268=) c.727T= (p.Tyr243=) c.670T= (p.Tyr224=) | |
| 3 | g.30671959A= | CA1354873071 | TGFBR2 | c.776A= (p.Tyr259=) n.2372A= c.851A= (p.Tyr284=) c.803A= (p.Tyr268=) c.728A= (p.Tyr243=) c.671A= (p.Tyr224=) | |
| 3 | g.30671959A>C | CA351807842 | TGFBR2 | c.776A>C (p.Tyr259Ser) n.2372A>C c.851A>C (p.Tyr284Ser) c.803A>C (p.Tyr268Ser) c.728A>C (p.Tyr243Ser) c.671A>C (p.Tyr224Ser) | |
| 3 | g.30671959A>G | CA049882 | TGFBR2 | c.776A>G (p.Tyr259Cys) n.2372A>G c.851A>G (p.Tyr284Cys) c.803A>G (p.Tyr268Cys) c.728A>G (p.Tyr243Cys) c.671A>G (p.Tyr224Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671959A>T | CA351807841 | TGFBR2 | c.776A>T (p.Tyr259Phe) n.2372A>T c.851A>T (p.Tyr284Phe) c.803A>T (p.Tyr268Phe) c.728A>T (p.Tyr243Phe) c.671A>T (p.Tyr224Phe) | |
| 3 | g.30671960T>A | CA351807843 | TGFBR2 | c.777T>A (p.Tyr259Ter) n.2373T>A c.852T>A (p.Tyr284Ter) c.804T>A (p.Tyr268Ter) c.729T>A (p.Tyr243Ter) c.672T>A (p.Tyr224Ter) | gnomAD v4 |
| 3 | g.30671960T>C | CA433058650 | TGFBR2 | c.777T>C (p.Tyr259=) n.2373T>C c.852T>C (p.Tyr284=) c.804T>C (p.Tyr268=) c.729T>C (p.Tyr243=) c.672T>C (p.Tyr224=) | |
| 3 | g.30671960T>G | CA351807844 | TGFBR2 | c.777T>G (p.Tyr259Ter) n.2373T>G c.852T>G (p.Tyr284Ter) c.804T>G (p.Tyr268Ter) c.729T>G (p.Tyr243Ter) c.672T>G (p.Tyr224Ter) | |
| 3 | g.30671961A>C | CA351807845 | TGFBR2 | c.778A>C (p.Lys260Gln) n.2374A>C c.853A>C (p.Lys285Gln) c.805A>C (p.Lys269Gln) c.730A>C (p.Lys244Gln) c.673A>C (p.Lys225Gln) | |
| 3 | g.30671961A>G | CA351807846 | TGFBR2 | c.778A>G (p.Lys260Glu) n.2374A>G c.853A>G (p.Lys285Glu) c.805A>G (p.Lys269Glu) c.730A>G (p.Lys244Glu) c.673A>G (p.Lys225Glu) | |
| 3 | g.30671961A>T | CA351807847 | TGFBR2 | c.778A>T (p.Lys260Ter) n.2374A>T c.853A>T (p.Lys285Ter) c.805A>T (p.Lys269Ter) c.730A>T (p.Lys244Ter) c.673A>T (p.Lys225Ter) | |
| 3 | g.30671962A>C | CA351807848 | TGFBR2 | c.779A>C (p.Lys260Thr) n.2375A>C c.854A>C (p.Lys285Thr) c.806A>C (p.Lys269Thr) c.731A>C (p.Lys244Thr) c.674A>C (p.Lys225Thr) | |
| 3 | g.30671962A>G | CA351807850 | TGFBR2 | c.779A>G (p.Lys260Arg) n.2375A>G c.854A>G (p.Lys285Arg) c.806A>G (p.Lys269Arg) c.731A>G (p.Lys244Arg) c.674A>G (p.Lys225Arg) | ClinVar |
| 3 | g.30671962A>T | CA351807849 | TGFBR2 | c.779A>T (p.Lys260Met) n.2375A>T c.854A>T (p.Lys285Met) c.806A>T (p.Lys269Met) c.731A>T (p.Lys244Met) c.674A>T (p.Lys225Met) | dbSNP |
| 3 | g.30671963G>A | CA433058654 | TGFBR2 | c.780G>A (p.Lys260=) n.2376G>A c.855G>A (p.Lys285=) c.807G>A (p.Lys269=) c.732G>A (p.Lys244=) c.675G>A (p.Lys225=) | dbSNP |
| 3 | g.30671963G>C | CA351807851 | TGFBR2 | c.780G>C (p.Lys260Asn) n.2376G>C c.855G>C (p.Lys285Asn) c.807G>C (p.Lys269Asn) c.732G>C (p.Lys244Asn) c.675G>C (p.Lys225Asn) | |
| 3 | g.30671963G>T | CA351807852 | TGFBR2 | c.780G>T (p.Lys260Asn) n.2376G>T c.855G>T (p.Lys285Asn) c.807G>T (p.Lys269Asn) c.732G>T (p.Lys244Asn) c.675G>T (p.Lys225Asn) | |
| 3 | g.30671964G>A | CA351807853 | TGFBR2 | c.781G>A (p.Ala261Thr) n.2377G>A c.856G>A (p.Ala286Thr) c.808G>A (p.Ala270Thr) c.733G>A (p.Ala245Thr) c.676G>A (p.Ala226Thr) | dbSNP |
| 3 | g.30671964G>C | CA351807854 | TGFBR2 | c.781G>C (p.Ala261Pro) n.2377G>C c.856G>C (p.Ala286Pro) c.808G>C (p.Ala270Pro) c.733G>C (p.Ala245Pro) c.676G>C (p.Ala226Pro) | dbSNP |
| 3 | g.30671964G>T | CA351807855 | TGFBR2 | c.781G>T (p.Ala261Ser) n.2377G>T c.856G>T (p.Ala286Ser) c.808G>T (p.Ala270Ser) c.733G>T (p.Ala245Ser) c.676G>T (p.Ala226Ser) | |
| 3 | g.30671965C>A | CA351807856 | TGFBR2 | c.782C>A (p.Ala261Asp) n.2378C>A c.857C>A (p.Ala286Asp) c.809C>A (p.Ala270Asp) c.734C>A (p.Ala245Asp) c.677C>A (p.Ala226Asp) | dbSNP |
| 3 | g.30671965C= | CA1354873072 | TGFBR2 | c.782C= (p.Ala261=) n.2378C= c.857C= (p.Ala286=) c.809C= (p.Ala270=) c.734C= (p.Ala245=) c.677C= (p.Ala226=) | |
| 3 | g.30671965C>G | CA351807857 | TGFBR2 | c.782C>G (p.Ala261Gly) n.2378C>G c.857C>G (p.Ala286Gly) c.809C>G (p.Ala270Gly) c.734C>G (p.Ala245Gly) c.677C>G (p.Ala226Gly) | dbSNP |
| 3 | g.30671965C>T | CA351807858 | TGFBR2 | c.782C>T (p.Ala261Val) n.2378C>T c.857C>T (p.Ala286Val) c.809C>T (p.Ala270Val) c.734C>T (p.Ala245Val) c.677C>T (p.Ala226Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30671966C>A | CA433058655 | TGFBR2 | c.783C>A (p.Ala261=) n.2379C>A c.858C>A (p.Ala286=) c.810C>A (p.Ala270=) c.735C>A (p.Ala245=) c.678C>A (p.Ala226=) | dbSNP |
| 3 | g.30671966C>G | CA433058656 | TGFBR2 | c.783C>G (p.Ala261=) n.2379C>G c.858C>G (p.Ala286=) c.810C>G (p.Ala270=) c.735C>G (p.Ala245=) c.678C>G (p.Ala226=) | |
| 3 | g.30671966C>T | CA433058657 | TGFBR2 | c.783C>T (p.Ala261=) n.2379C>T c.858C>T (p.Ala286=) c.810C>T (p.Ala270=) c.735C>T (p.Ala245=) c.678C>T (p.Ala226=) | dbSNP |
| 3 | g.30671967A>C | CA351807859 | TGFBR2 | c.784A>C (p.Lys262Gln) n.2380A>C c.859A>C (p.Lys287Gln) c.811A>C (p.Lys271Gln) c.736A>C (p.Lys246Gln) c.679A>C (p.Lys227Gln) | |
| 3 | g.30671967A>G | CA351807860 | TGFBR2 | c.784A>G (p.Lys262Glu) n.2380A>G c.859A>G (p.Lys287Glu) c.811A>G (p.Lys271Glu) c.736A>G (p.Lys246Glu) c.679A>G (p.Lys227Glu) | |
| 3 | g.30671967A>T | CA351807861 | TGFBR2 | c.784A>T (p.Lys262Ter) n.2380A>T c.859A>T (p.Lys287Ter) c.811A>T (p.Lys271Ter) c.736A>T (p.Lys246Ter) c.679A>T (p.Lys227Ter) | dbSNP |
| 3 | g.30671968A>C | CA351807864 | TGFBR2 | c.785A>C (p.Lys262Thr) n.2381A>C c.860A>C (p.Lys287Thr) c.812A>C (p.Lys271Thr) c.737A>C (p.Lys246Thr) c.680A>C (p.Lys227Thr) | |
| 3 | g.30671968A>G | CA351807863 | TGFBR2 | c.785A>G (p.Lys262Arg) n.2381A>G c.860A>G (p.Lys287Arg) c.812A>G (p.Lys271Arg) c.737A>G (p.Lys246Arg) c.680A>G (p.Lys227Arg) | |
| 3 | g.30671968A>T | CA351807862 | TGFBR2 | c.785A>T (p.Lys262Met) n.2381A>T c.860A>T (p.Lys287Met) c.812A>T (p.Lys271Met) c.737A>T (p.Lys246Met) c.680A>T (p.Lys227Met) | |
| 3 | g.30671969G>A | CA433058665 | TGFBR2 | c.786G>A (p.Lys262=) n.2382G>A c.861G>A (p.Lys287=) c.813G>A (p.Lys271=) c.738G>A (p.Lys246=) c.681G>A (p.Lys227=) | ClinVar |
| 3 | g.30671969G>C | CA351807865 | TGFBR2 | c.786G>C (p.Lys262Asn) n.2382G>C c.861G>C (p.Lys287Asn) c.813G>C (p.Lys271Asn) c.738G>C (p.Lys246Asn) c.681G>C (p.Lys227Asn) | COSMIC |
| 3 | g.30671969G>T | CA351807866 | TGFBR2 | c.786G>T (p.Lys262Asn) n.2382G>T c.861G>T (p.Lys287Asn) c.813G>T (p.Lys271Asn) c.738G>T (p.Lys246Asn) c.681G>T (p.Lys227Asn) | |
| 3 | g.30671970C>A | CA351807867 | TGFBR2 | c.787C>A (p.Leu263Met) n.2383C>A c.862C>A (p.Leu288Met) c.814C>A (p.Leu272Met) c.739C>A (p.Leu247Met) c.682C>A (p.Leu228Met) | |
| 3 | g.30671970C>G | CA351807868 | TGFBR2 | c.787C>G (p.Leu263Val) n.2383C>G c.862C>G (p.Leu288Val) c.814C>G (p.Leu272Val) c.739C>G (p.Leu247Val) c.682C>G (p.Leu228Val) | gnomAD v4 |
| 3 | g.30671970C>T | CA433058670 | TGFBR2 | c.787C>T (p.Leu263=) n.2383C>T c.862C>T (p.Leu288=) c.814C>T (p.Leu272=) c.739C>T (p.Leu247=) c.682C>T (p.Leu228=) | |
| 3 | g.30671971T>A | CA351807869 | TGFBR2 | c.788T>A (p.Leu263Gln) n.2384T>A c.863T>A (p.Leu288Gln) c.815T>A (p.Leu272Gln) c.740T>A (p.Leu247Gln) c.683T>A (p.Leu228Gln) | |
| 3 | g.30671971T>C | CA351807870 | TGFBR2 | c.788T>C (p.Leu263Pro) n.2384T>C c.863T>C (p.Leu288Pro) c.815T>C (p.Leu272Pro) c.740T>C (p.Leu247Pro) c.683T>C (p.Leu228Pro) | |
| 3 | g.30671971T>G | CA351807871 | TGFBR2 | c.788T>G (p.Leu263Arg) n.2384T>G c.863T>G (p.Leu288Arg) c.815T>G (p.Leu272Arg) c.740T>G (p.Leu247Arg) c.683T>G (p.Leu228Arg) | |
| 3 | g.30671972G>A | CA433058673 | TGFBR2 | c.789G>A (p.Leu263=) n.2385G>A c.864G>A (p.Leu288=) c.816G>A (p.Leu272=) c.741G>A (p.Leu247=) c.684G>A (p.Leu228=) | dbSNP gnomAD v4 COSMIC |
| 3 | g.30671972G>C | CA433058672 | TGFBR2 | c.789G>C (p.Leu263=) n.2385G>C c.864G>C (p.Leu288=) c.816G>C (p.Leu272=) c.741G>C (p.Leu247=) c.684G>C (p.Leu228=) | |
| 3 | g.30671972G>T | CA433058671 | TGFBR2 | c.789G>T (p.Leu263=) n.2385G>T c.864G>T (p.Leu288=) c.816G>T (p.Leu272=) c.741G>T (p.Leu247=) c.684G>T (p.Leu228=) | dbSNP |
| 3 | g.30671973A>C | CA351807872 | TGFBR2 | c.790A>C (p.Lys264Gln) n.2386A>C c.865A>C (p.Lys289Gln) c.817A>C (p.Lys273Gln) c.742A>C (p.Lys248Gln) c.685A>C (p.Lys229Gln) | gnomAD v4 |
| 3 | g.30671973A>G | CA351807873 | TGFBR2 | c.790A>G (p.Lys264Glu) n.2386A>G c.865A>G (p.Lys289Glu) c.817A>G (p.Lys273Glu) c.742A>G (p.Lys248Glu) c.685A>G (p.Lys229Glu) | |
| 3 | g.30671973A>T | CA351807874 | TGFBR2 | c.790A>T (p.Lys264Ter) n.2386A>T c.865A>T (p.Lys289Ter) c.817A>T (p.Lys273Ter) c.742A>T (p.Lys248Ter) c.685A>T (p.Lys229Ter) |