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.99142599_99142603delinsATTAC | CA1867260066 | TGFBR1 | c.662_666delinsATTAC (p.Asp221=) c.674_678delinsATTAC (p.Asp225=) c.443_447delinsATTAC (p.Asp148=) c.431_435delinsATTAC (p.Asp144=) c.*665_*669delinsATTAC (n.*665_*669delinsATTAC) c.869_873delinsATTAC (p.Asp290=) c.638_642delinsATTAC (p.Asp213=) c.881_885delinsATTAC (p.Asp294=) | |
| 9 | g.99142603_99142606del | CA658797256 | TGFBR1 | c.666_669del (p.Tyr222Ter) c.678_681del (p.Tyr226Ter) c.447_450del (p.Tyr149Ter) c.435_438del (p.Tyr145Ter) c.*669_*672del (n.*669_*672del) c.873_876del (p.Tyr291Ter) c.642_645del (p.Tyr214Ter) c.885_888del (p.Tyr295Ter) | ClinVar dbSNP |
| 9 | g.99142601T>A | CA374230630 | TGFBR1 | c.664T>A (p.Tyr222Asn) c.676T>A (p.Tyr226Asn) c.445T>A (p.Tyr149Asn) c.433T>A (p.Tyr145Asn) c.*667T>A (n.*667T>A) c.871T>A (p.Tyr291Asn) c.640T>A (p.Tyr214Asn) c.883T>A (p.Tyr295Asn) | gnomAD v4 |
| 9 | g.99142601T>C | CA043255 | TGFBR1 | c.664T>C (p.Tyr222His) c.676T>C (p.Tyr226His) c.445T>C (p.Tyr149His) c.433T>C (p.Tyr145His) c.*667T>C (n.*667T>C) c.871T>C (p.Tyr291His) c.640T>C (p.Tyr214His) c.883T>C (p.Tyr295His) | dbSNP ExAC gnomAD v2 |
| 9 | g.99142601T>G | CA374230631 | TGFBR1 | c.664T>G (p.Tyr222Asp) c.676T>G (p.Tyr226Asp) c.445T>G (p.Tyr149Asp) c.433T>G (p.Tyr145Asp) c.*667T>G (n.*667T>G) c.871T>G (p.Tyr291Asp) c.640T>G (p.Tyr214Asp) c.883T>G (p.Tyr295Asp) | dbSNP |
| 9 | g.99142601T= | CA1867260071 | TGFBR1 | c.664T= (p.Tyr222=) c.676T= (p.Tyr226=) c.445T= (p.Tyr149=) c.433T= (p.Tyr145=) c.*667T= (n.*667T=) c.871T= (p.Tyr291=) c.640T= (p.Tyr214=) c.883T= (p.Tyr295=) | |
| 9 | g.99142602A= | CA1867260074 | TGFBR1 | c.665A= (p.Tyr222=) c.677A= (p.Tyr226=) c.446A= (p.Tyr149=) c.434A= (p.Tyr145=) c.*668A= (n.*668A=) c.872A= (p.Tyr291=) c.641A= (p.Tyr214=) c.884A= (p.Tyr295=) | |
| 9 | g.99142602A>C | CA374230632 | TGFBR1 | c.665A>C (p.Tyr222Ser) c.677A>C (p.Tyr226Ser) c.446A>C (p.Tyr149Ser) c.434A>C (p.Tyr145Ser) c.*668A>C (n.*668A>C) c.872A>C (p.Tyr291Ser) c.641A>C (p.Tyr214Ser) c.884A>C (p.Tyr295Ser) | |
| 9 | g.99142602A>G | CA196891562 | TGFBR1 | c.665A>G (p.Tyr222Cys) c.677A>G (p.Tyr226Cys) c.446A>G (p.Tyr149Cys) c.434A>G (p.Tyr145Cys) c.*668A>G (n.*668A>G) c.872A>G (p.Tyr291Cys) c.641A>G (p.Tyr214Cys) c.884A>G (p.Tyr295Cys) | dbSNP gnomAD v4 |
| 9 | g.99142602A>T | CA374230633 | TGFBR1 | c.665A>T (p.Tyr222Phe) c.677A>T (p.Tyr226Phe) c.446A>T (p.Tyr149Phe) c.434A>T (p.Tyr145Phe) c.*668A>T (n.*668A>T) c.872A>T (p.Tyr291Phe) c.641A>T (p.Tyr214Phe) c.884A>T (p.Tyr295Phe) | |
| 9 | g.99142603C>A | CA374230634 | TGFBR1 | c.666C>A (p.Tyr222Ter) c.678C>A (p.Tyr226Ter) c.447C>A (p.Tyr149Ter) c.435C>A (p.Tyr145Ter) c.*669C>A (n.*669C>A) c.873C>A (p.Tyr291Ter) c.642C>A (p.Tyr214Ter) c.885C>A (p.Tyr295Ter) | COSMIC |
| 9 | g.99142603C>G | CA374230635 | TGFBR1 | c.666C>G (p.Tyr222Ter) c.678C>G (p.Tyr226Ter) c.447C>G (p.Tyr149Ter) c.435C>G (p.Tyr145Ter) c.*669C>G (n.*669C>G) c.873C>G (p.Tyr291Ter) c.642C>G (p.Tyr214Ter) c.885C>G (p.Tyr295Ter) | ClinVar dbSNP |
| 9 | g.99142603C>T | CA466434458 | TGFBR1 | c.666C>T (p.Tyr222=) c.678C>T (p.Tyr226=) c.447C>T (p.Tyr149=) c.435C>T (p.Tyr145=) c.*669C>T (n.*669C>T) c.873C>T (p.Tyr291=) c.642C>T (p.Tyr214=) c.885C>T (p.Tyr295=) | gnomAD v4 |
| 9 | g.99142604T>A | CA374230636 | TGFBR1 | c.667T>A (p.Leu223Ile) c.679T>A (p.Leu227Ile) c.448T>A (p.Leu150Ile) c.436T>A (p.Leu146Ile) c.*670T>A (n.*670T>A) c.874T>A (p.Leu292Ile) c.643T>A (p.Leu215Ile) c.886T>A (p.Leu296Ile) | |
| 9 | g.99142604T>C | CA466434461 | TGFBR1 | c.667T>C (p.Leu223=) c.679T>C (p.Leu227=) c.448T>C (p.Leu150=) c.436T>C (p.Leu146=) c.*670T>C (n.*670T>C) c.874T>C (p.Leu292=) c.643T>C (p.Leu215=) c.886T>C (p.Leu296=) | |
| 9 | g.99142604T>G | CA374230637 | TGFBR1 | c.667T>G (p.Leu223Val) c.679T>G (p.Leu227Val) c.448T>G (p.Leu150Val) c.436T>G (p.Leu146Val) c.*670T>G (n.*670T>G) c.874T>G (p.Leu292Val) c.643T>G (p.Leu215Val) c.886T>G (p.Leu296Val) | |
| 9 | g.99142605T>A | CA374230640 | TGFBR1 | c.668T>A (p.Leu223Ter) c.680T>A (p.Leu227Ter) c.449T>A (p.Leu150Ter) c.437T>A (p.Leu146Ter) c.*671T>A (n.*671T>A) c.875T>A (p.Leu292Ter) c.644T>A (p.Leu215Ter) c.887T>A (p.Leu296Ter) | |
| 9 | g.99142605T>C | CA374230639 | TGFBR1 | c.668T>C (p.Leu223Ser) c.680T>C (p.Leu227Ser) c.449T>C (p.Leu150Ser) c.437T>C (p.Leu146Ser) c.*671T>C (n.*671T>C) c.875T>C (p.Leu292Ser) c.644T>C (p.Leu215Ser) c.887T>C (p.Leu296Ser) | |
| 9 | g.99142605T>G | CA374230638 | TGFBR1 | c.668T>G (p.Leu223Ter) c.680T>G (p.Leu227Ter) c.449T>G (p.Leu150Ter) c.437T>G (p.Leu146Ter) c.*671T>G (n.*671T>G) c.875T>G (p.Leu292Ter) c.644T>G (p.Leu215Ter) c.887T>G (p.Leu296Ter) | |
| 9 | g.99142606A= | CA1867260079 | TGFBR1 | c.669A= (p.Leu223=) c.681A= (p.Leu227=) c.450A= (p.Leu150=) c.438A= (p.Leu146=) c.*672A= (n.*672A=) c.876A= (p.Leu292=) c.645A= (p.Leu215=) c.888A= (p.Leu296=) | |
| 9 | g.99142606A>C | CA374230641 | TGFBR1 | c.669A>C (p.Leu223Phe) c.681A>C (p.Leu227Phe) c.450A>C (p.Leu150Phe) c.438A>C (p.Leu146Phe) c.*672A>C (n.*672A>C) c.876A>C (p.Leu292Phe) c.645A>C (p.Leu215Phe) c.888A>C (p.Leu296Phe) | |
| 9 | g.99142606A>G | CA466434465 | TGFBR1 | c.669A>G (p.Leu223=) c.681A>G (p.Leu227=) c.450A>G (p.Leu150=) c.438A>G (p.Leu146=) c.*672A>G (n.*672A>G) c.876A>G (p.Leu292=) c.645A>G (p.Leu215=) c.888A>G (p.Leu296=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99142606A>T | CA374230642 | TGFBR1 | c.669A>T (p.Leu223Phe) c.681A>T (p.Leu227Phe) c.450A>T (p.Leu150Phe) c.438A>T (p.Leu146Phe) c.*672A>T (n.*672A>T) c.876A>T (p.Leu292Phe) c.645A>T (p.Leu215Phe) c.888A>T (p.Leu296Phe) | |
| 9 | g.99142607A>C | CA374230643 | TGFBR1 | c.670A>C (p.Asn224His) c.682A>C (p.Asn228His) c.451A>C (p.Asn151His) c.439A>C (p.Asn147His) c.*673A>C (n.*673A>C) c.877A>C (p.Asn293His) c.646A>C (p.Asn216His) c.889A>C (p.Asn297His) | |
| 9 | g.99142607A>G | CA374230644 | TGFBR1 | c.670A>G (p.Asn224Asp) c.682A>G (p.Asn228Asp) c.451A>G (p.Asn151Asp) c.439A>G (p.Asn147Asp) c.*673A>G (n.*673A>G) c.877A>G (p.Asn293Asp) c.646A>G (p.Asn216Asp) c.889A>G (p.Asn297Asp) | |
| 9 | g.99142607A>T | CA374230645 | TGFBR1 | c.670A>T (p.Asn224Tyr) c.682A>T (p.Asn228Tyr) c.451A>T (p.Asn151Tyr) c.439A>T (p.Asn147Tyr) c.*673A>T (n.*673A>T) c.877A>T (p.Asn293Tyr) c.646A>T (p.Asn216Tyr) c.889A>T (p.Asn297Tyr) | |
| 9 | g.99142608A= | CA1867260082 | TGFBR1 | c.671A= (p.Asn224=) c.683A= (p.Asn228=) c.452A= (p.Asn151=) c.440A= (p.Asn147=) c.*674A= (n.*674A=) c.878A= (p.Asn293=) c.647A= (p.Asn216=) c.890A= (p.Asn297=) | |
| 9 | g.99142608A>C | CA374230646 | TGFBR1 | c.671A>C (p.Asn224Thr) c.683A>C (p.Asn228Thr) c.452A>C (p.Asn151Thr) c.440A>C (p.Asn147Thr) c.*674A>C (n.*674A>C) c.878A>C (p.Asn293Thr) c.647A>C (p.Asn216Thr) c.890A>C (p.Asn297Thr) | |
| 9 | g.99142608A>G | CA196891564 | TGFBR1 | c.671A>G (p.Asn224Ser) c.683A>G (p.Asn228Ser) c.452A>G (p.Asn151Ser) c.440A>G (p.Asn147Ser) c.*674A>G (n.*674A>G) c.878A>G (p.Asn293Ser) c.647A>G (p.Asn216Ser) c.890A>G (p.Asn297Ser) | dbSNP gnomAD v4 COSMIC |
| 9 | g.99142608A>T | CA374230647 | TGFBR1 | c.671A>T (p.Asn224Ile) c.683A>T (p.Asn228Ile) c.452A>T (p.Asn151Ile) c.440A>T (p.Asn147Ile) c.*674A>T (n.*674A>T) c.878A>T (p.Asn293Ile) c.647A>T (p.Asn216Ile) c.890A>T (p.Asn297Ile) | |
| 9 | g.99142609C>A | CA374230648 | TGFBR1 | c.672C>A (p.Asn224Lys) c.684C>A (p.Asn228Lys) c.453C>A (p.Asn151Lys) c.441C>A (p.Asn147Lys) c.*675C>A (n.*675C>A) c.879C>A (p.Asn293Lys) c.648C>A (p.Asn216Lys) c.891C>A (p.Asn297Lys) | |
| 9 | g.99142609C>G | CA374230649 | TGFBR1 | c.672C>G (p.Asn224Lys) c.684C>G (p.Asn228Lys) c.453C>G (p.Asn151Lys) c.441C>G (p.Asn147Lys) c.*675C>G (n.*675C>G) c.879C>G (p.Asn293Lys) c.648C>G (p.Asn216Lys) c.891C>G (p.Asn297Lys) | |
| 9 | g.99142609C>T | CA466434469 | TGFBR1 | c.672C>T (p.Asn224=) c.684C>T (p.Asn228=) c.453C>T (p.Asn151=) c.441C>T (p.Asn147=) c.*675C>T (n.*675C>T) c.879C>T (p.Asn293=) c.648C>T (p.Asn216=) c.891C>T (p.Asn297=) | dbSNP |
| 9 | g.99142610A>C | CA466434470 | TGFBR1 | c.673A>C (p.Arg225=) c.685A>C (p.Arg229=) c.454A>C (p.Arg152=) c.442A>C (p.Arg148=) c.*676A>C (n.*676A>C) c.880A>C (p.Arg294=) c.649A>C (p.Arg217=) c.892A>C (p.Arg298=) | |
| 9 | g.99142610A>G | CA374230650 | TGFBR1 | c.673A>G (p.Arg225Gly) c.685A>G (p.Arg229Gly) c.454A>G (p.Arg152Gly) c.442A>G (p.Arg148Gly) c.*676A>G (n.*676A>G) c.880A>G (p.Arg294Gly) c.649A>G (p.Arg217Gly) c.892A>G (p.Arg298Gly) | |
| 9 | g.99142610A>T | CA374230651 | TGFBR1 | c.673A>T (p.Arg225Ter) c.685A>T (p.Arg229Ter) c.454A>T (p.Arg152Ter) c.442A>T (p.Arg148Ter) c.*676A>T (n.*676A>T) c.880A>T (p.Arg294Ter) c.649A>T (p.Arg217Ter) c.892A>T (p.Arg298Ter) | |
| 9 | g.99142611_99142612del | CA2695210825 | TGFBR1 | c.674_675del (p.Arg225IlefsTer?) c.686_687del (p.Arg229IlefsTer?) c.455_456del (p.Arg152IlefsTer?) c.443_444del (p.Arg148IlefsTer?) c.*677_*678del (n.*677_*678del) c.881_882del (p.Arg294IlefsTer?) c.650_651del (p.Arg217IlefsTer?) c.893_894del (p.Arg298IlefsTer?) | |
| 9 | g.99142611G>A | CA374230653 | TGFBR1 | c.674G>A (p.Arg225Lys) c.686G>A (p.Arg229Lys) c.455G>A (p.Arg152Lys) c.443G>A (p.Arg148Lys) c.*677G>A (n.*677G>A) c.881G>A (p.Arg294Lys) c.650G>A (p.Arg217Lys) c.893G>A (p.Arg298Lys) | |
| 9 | g.99142611G>C | CA374230654 | TGFBR1 | c.674G>C (p.Arg225Thr) c.686G>C (p.Arg229Thr) c.455G>C (p.Arg152Thr) c.443G>C (p.Arg148Thr) c.*677G>C (n.*677G>C) c.881G>C (p.Arg294Thr) c.650G>C (p.Arg217Thr) c.893G>C (p.Arg298Thr) | |
| 9 | g.99142611G>T | CA374230652 | TGFBR1 | c.674G>T (p.Arg225Ile) c.686G>T (p.Arg229Ile) c.455G>T (p.Arg152Ile) c.443G>T (p.Arg148Ile) c.*677G>T (n.*677G>T) c.881G>T (p.Arg294Ile) c.650G>T (p.Arg217Ile) c.893G>T (p.Arg298Ile) | |
| 9 | g.99142612A= | CA1867260086 | TGFBR1 | c.675A= (p.Arg225=) c.687A= (p.Arg229=) c.456A= (p.Arg152=) c.444A= (p.Arg148=) c.*678A= (n.*678A=) c.882A= (p.Arg294=) c.651A= (p.Arg217=) c.894A= (p.Arg298=) | |
| 9 | g.99142612A>C | CA374230655 | TGFBR1 | c.675A>C (p.Arg225Ser) c.687A>C (p.Arg229Ser) c.456A>C (p.Arg152Ser) c.444A>C (p.Arg148Ser) c.*678A>C (n.*678A>C) c.882A>C (p.Arg294Ser) c.651A>C (p.Arg217Ser) c.894A>C (p.Arg298Ser) | |
| 9 | g.99142612A>G | CA466434472 | TGFBR1 | c.675A>G (p.Arg225=) c.687A>G (p.Arg229=) c.456A>G (p.Arg152=) c.444A>G (p.Arg148=) c.*678A>G (n.*678A>G) c.882A>G (p.Arg294=) c.651A>G (p.Arg217=) c.894A>G (p.Arg298=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99142612A>T | CA374230656 | TGFBR1 | c.675A>T (p.Arg225Ser) c.687A>T (p.Arg229Ser) c.456A>T (p.Arg152Ser) c.444A>T (p.Arg148Ser) c.*678A>T (n.*678A>T) c.882A>T (p.Arg294Ser) c.651A>T (p.Arg217Ser) c.894A>T (p.Arg298Ser) | |
| 9 | g.99142613T>A | CA196891567 | TGFBR1 | c.676T>A (p.Tyr226Asn) c.688T>A (p.Tyr230Asn) c.457T>A (p.Tyr153Asn) c.445T>A (p.Tyr149Asn) c.*679T>A (n.*679T>A) c.883T>A (p.Tyr295Asn) c.652T>A (p.Tyr218Asn) c.895T>A (p.Tyr299Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142613T>C | CA374230657 | TGFBR1 | c.676T>C (p.Tyr226His) c.688T>C (p.Tyr230His) c.457T>C (p.Tyr153His) c.445T>C (p.Tyr149His) c.*679T>C (n.*679T>C) c.883T>C (p.Tyr295His) c.652T>C (p.Tyr218His) c.895T>C (p.Tyr299His) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99142613T>G | CA374230658 | TGFBR1 | c.676T>G (p.Tyr226Asp) c.688T>G (p.Tyr230Asp) c.457T>G (p.Tyr153Asp) c.445T>G (p.Tyr149Asp) c.*679T>G (n.*679T>G) c.883T>G (p.Tyr295Asp) c.652T>G (p.Tyr218Asp) c.895T>G (p.Tyr299Asp) | |
| 9 | g.99142613T= | CA1867260091 | TGFBR1 | c.676T= (p.Tyr226=) c.688T= (p.Tyr230=) c.457T= (p.Tyr153=) c.445T= (p.Tyr149=) c.*679T= (n.*679T=) c.883T= (p.Tyr295=) c.652T= (p.Tyr218=) c.895T= (p.Tyr299=) | |
| 9 | g.99142614A>C | CA374230659 | TGFBR1 | c.677A>C (p.Tyr226Ser) c.689A>C (p.Tyr230Ser) c.458A>C (p.Tyr153Ser) c.446A>C (p.Tyr149Ser) c.*680A>C (n.*680A>C) c.884A>C (p.Tyr295Ser) c.653A>C (p.Tyr218Ser) c.896A>C (p.Tyr299Ser) | |
| 9 | g.99142614A>G | CA374230660 | TGFBR1 | c.677A>G (p.Tyr226Cys) c.689A>G (p.Tyr230Cys) c.458A>G (p.Tyr153Cys) c.446A>G (p.Tyr149Cys) c.*680A>G (n.*680A>G) c.884A>G (p.Tyr295Cys) c.653A>G (p.Tyr218Cys) c.896A>G (p.Tyr299Cys) | |
| 9 | g.99142614A>T | CA374230661 | TGFBR1 | c.677A>T (p.Tyr226Phe) c.689A>T (p.Tyr230Phe) c.458A>T (p.Tyr153Phe) c.446A>T (p.Tyr149Phe) c.*680A>T (n.*680A>T) c.884A>T (p.Tyr295Phe) c.653A>T (p.Tyr218Phe) c.896A>T (p.Tyr299Phe) | COSMIC |
| 9 | g.99142615C>A | CA374230662 | TGFBR1 | c.678C>A (p.Tyr226Ter) c.690C>A (p.Tyr230Ter) c.459C>A (p.Tyr153Ter) c.447C>A (p.Tyr149Ter) c.*681C>A (n.*681C>A) c.885C>A (p.Tyr295Ter) c.654C>A (p.Tyr218Ter) c.897C>A (p.Tyr299Ter) | |
| 9 | g.99142615C>G | CA374230663 | TGFBR1 | c.678C>G (p.Tyr226Ter) c.690C>G (p.Tyr230Ter) c.459C>G (p.Tyr153Ter) c.447C>G (p.Tyr149Ter) c.*681C>G (n.*681C>G) c.885C>G (p.Tyr295Ter) c.654C>G (p.Tyr218Ter) c.897C>G (p.Tyr299Ter) | gnomAD v4 |
| 9 | g.99142615C>T | CA466434474 | TGFBR1 | c.678C>T (p.Tyr226=) c.690C>T (p.Tyr230=) c.459C>T (p.Tyr153=) c.447C>T (p.Tyr149=) c.*681C>T (n.*681C>T) c.885C>T (p.Tyr295=) c.654C>T (p.Tyr218=) c.897C>T (p.Tyr299=) | gnomAD v4 |
| 9 | g.99142616A= | CA1867260098 | TGFBR1 | c.679A= (p.Thr227=) c.691A= (p.Thr231=) c.460A= (p.Thr154=) c.448A= (p.Thr150=) c.*682A= (n.*682A=) c.886A= (p.Thr296=) c.655A= (p.Thr219=) c.898A= (p.Thr300=) | |
| 9 | g.99142616A>C | CA374230664 | TGFBR1 | c.679A>C (p.Thr227Pro) c.691A>C (p.Thr231Pro) c.460A>C (p.Thr154Pro) c.448A>C (p.Thr150Pro) c.*682A>C (n.*682A>C) c.886A>C (p.Thr296Pro) c.655A>C (p.Thr219Pro) c.898A>C (p.Thr300Pro) | |
| 9 | g.99142616A>G | CA374230665 | TGFBR1 | c.679A>G (p.Thr227Ala) c.691A>G (p.Thr231Ala) c.460A>G (p.Thr154Ala) c.448A>G (p.Thr150Ala) c.*682A>G (n.*682A>G) c.886A>G (p.Thr296Ala) c.655A>G (p.Thr219Ala) c.898A>G (p.Thr300Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99142616A>T | CA374230666 | TGFBR1 | c.679A>T (p.Thr227Ser) c.691A>T (p.Thr231Ser) c.460A>T (p.Thr154Ser) c.448A>T (p.Thr150Ser) c.*682A>T (n.*682A>T) c.886A>T (p.Thr296Ser) c.655A>T (p.Thr219Ser) c.898A>T (p.Thr300Ser) | |
| 9 | g.99142617C>A | CA374230669 | TGFBR1 | c.680C>A (p.Thr227Lys) c.692C>A (p.Thr231Lys) c.461C>A (p.Thr154Lys) c.449C>A (p.Thr150Lys) c.*683C>A (n.*683C>A) c.887C>A (p.Thr296Lys) c.656C>A (p.Thr219Lys) c.899C>A (p.Thr300Lys) | |
| 9 | g.99142617C>G | CA374230668 | TGFBR1 | c.680C>G (p.Thr227Arg) c.692C>G (p.Thr231Arg) c.461C>G (p.Thr154Arg) c.449C>G (p.Thr150Arg) c.*683C>G (n.*683C>G) c.887C>G (p.Thr296Arg) c.656C>G (p.Thr219Arg) c.899C>G (p.Thr300Arg) | ClinVar |
| 9 | g.99142617C>T | CA374230667 | TGFBR1 | c.680C>T (p.Thr227Ile) c.692C>T (p.Thr231Ile) c.461C>T (p.Thr154Ile) c.449C>T (p.Thr150Ile) c.*683C>T (n.*683C>T) c.887C>T (p.Thr296Ile) c.656C>T (p.Thr219Ile) c.899C>T (p.Thr300Ile) | COSMIC |
| 9 | g.99142618A= | CA1867260103 | TGFBR1 | c.681A= (p.Thr227=) c.693A= (p.Thr231=) c.462A= (p.Thr154=) c.450A= (p.Thr150=) c.*684A= (n.*684A=) c.888A= (p.Thr296=) c.657A= (p.Thr219=) c.900A= (p.Thr300=) | |
| 9 | g.99142618A>C | CA466434476 | TGFBR1 | c.681A>C (p.Thr227=) c.693A>C (p.Thr231=) c.462A>C (p.Thr154=) c.450A>C (p.Thr150=) c.*684A>C (n.*684A>C) c.888A>C (p.Thr296=) c.657A>C (p.Thr219=) c.900A>C (p.Thr300=) | |
| 9 | g.99142618A>G | CA043269 | TGFBR1 | c.681A>G (p.Thr227=) c.693A>G (p.Thr231=) c.462A>G (p.Thr154=) c.450A>G (p.Thr150=) c.*684A>G (n.*684A>G) c.888A>G (p.Thr296=) c.657A>G (p.Thr219=) c.900A>G (p.Thr300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142618A>T | CA466434478 | TGFBR1 | c.681A>T (p.Thr227=) c.693A>T (p.Thr231=) c.462A>T (p.Thr154=) c.450A>T (p.Thr150=) c.*684A>T (n.*684A>T) c.888A>T (p.Thr296=) c.657A>T (p.Thr219=) c.900A>T (p.Thr300=) | dbSNP |
| 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 |
| 9 | g.99142633A>T | CA466434491 | TGFBR1 | c.696A>T (p.Gly232=) c.708A>T (p.Gly236=) c.477A>T (p.Gly159=) c.465A>T (p.Gly155=) c.*699A>T (n.*699A>T) c.903A>T (p.Gly301=) c.672A>T (p.Gly224=) c.915A>T (p.Gly305=) | |
| 9 | g.99142634A>C | CA374230699 | TGFBR1 | c.697A>C (p.Met233Leu) c.709A>C (p.Met237Leu) c.478A>C (p.Met160Leu) c.466A>C (p.Met156Leu) c.*700A>C (n.*700A>C) c.904A>C (p.Met302Leu) c.673A>C (p.Met225Leu) c.916A>C (p.Met306Leu) | |
| 9 | g.99142634A>G | CA374230700 | TGFBR1 | c.697A>G (p.Met233Val) c.709A>G (p.Met237Val) c.478A>G (p.Met160Val) c.466A>G (p.Met156Val) c.*700A>G (n.*700A>G) c.904A>G (p.Met302Val) c.673A>G (p.Met225Val) c.916A>G (p.Met306Val) | |
| 9 | g.99142634A>T | CA374230701 | TGFBR1 | c.697A>T (p.Met233Leu) c.709A>T (p.Met237Leu) c.478A>T (p.Met160Leu) c.466A>T (p.Met156Leu) c.*700A>T (n.*700A>T) c.904A>T (p.Met302Leu) c.673A>T (p.Met225Leu) c.916A>T (p.Met306Leu) | |
| 9 | g.99142635T>A | CA374230702 | TGFBR1 | c.698T>A (p.Met233Lys) c.710T>A (p.Met237Lys) c.479T>A (p.Met160Lys) c.467T>A (p.Met156Lys) c.*701T>A (n.*701T>A) c.905T>A (p.Met302Lys) c.674T>A (p.Met225Lys) c.917T>A (p.Met306Lys) | |
| 9 | g.99142635T>C | CA374230703 | TGFBR1 | c.698T>C (p.Met233Thr) c.710T>C (p.Met237Thr) c.479T>C (p.Met160Thr) c.467T>C (p.Met156Thr) c.*701T>C (n.*701T>C) c.905T>C (p.Met302Thr) c.674T>C (p.Met225Thr) c.917T>C (p.Met306Thr) | |
| 9 | g.99142635T>G | CA374230704 | TGFBR1 | c.698T>G (p.Met233Arg) c.710T>G (p.Met237Arg) c.479T>G (p.Met160Arg) c.467T>G (p.Met156Arg) c.*701T>G (n.*701T>G) c.905T>G (p.Met302Arg) c.674T>G (p.Met225Arg) c.917T>G (p.Met306Arg) | |
| 9 | g.99142636G>A | CA374230705 | TGFBR1 | c.699G>A (p.Met233Ile) c.711G>A (p.Met237Ile) c.480G>A (p.Met160Ile) c.468G>A (p.Met156Ile) c.*702G>A (n.*702G>A) c.906G>A (p.Met302Ile) c.675G>A (p.Met225Ile) c.918G>A (p.Met306Ile) | gnomAD v4 |
| 9 | g.99142636G>C | CA374230706 | TGFBR1 | c.699G>C (p.Met233Ile) c.711G>C (p.Met237Ile) c.480G>C (p.Met160Ile) c.468G>C (p.Met156Ile) c.*702G>C (n.*702G>C) c.906G>C (p.Met302Ile) c.675G>C (p.Met225Ile) c.918G>C (p.Met306Ile) | |
| 9 | g.99142636G>T | CA374230707 | TGFBR1 | c.699G>T (p.Met233Ile) c.711G>T (p.Met237Ile) c.480G>T (p.Met160Ile) c.468G>T (p.Met156Ile) c.*702G>T (n.*702G>T) c.906G>T (p.Met302Ile) c.675G>T (p.Met225Ile) c.918G>T (p.Met306Ile) | |
| 9 | g.99142637A>C | CA374230708 | TGFBR1 | c.700A>C (p.Ile234Leu) c.712A>C (p.Ile238Leu) c.481A>C (p.Ile161Leu) c.469A>C (p.Ile157Leu) c.*703A>C (n.*703A>C) c.907A>C (p.Ile303Leu) c.676A>C (p.Ile226Leu) c.919A>C (p.Ile307Leu) | |
| 9 | g.99142637A>G | CA374230709 | TGFBR1 | c.700A>G (p.Ile234Val) c.712A>G (p.Ile238Val) c.481A>G (p.Ile161Val) c.469A>G (p.Ile157Val) c.*703A>G (n.*703A>G) c.907A>G (p.Ile303Val) c.676A>G (p.Ile226Val) c.919A>G (p.Ile307Val) | |
| 9 | g.99142637A>T | CA374230710 | TGFBR1 | c.700A>T (p.Ile234Leu) c.712A>T (p.Ile238Leu) c.481A>T (p.Ile161Leu) c.469A>T (p.Ile157Leu) c.*703A>T (n.*703A>T) c.907A>T (p.Ile303Leu) c.676A>T (p.Ile226Leu) c.919A>T (p.Ile307Leu) | ClinVar |
| 9 | g.99142638T>A | CA374230711 | TGFBR1 | c.701T>A (p.Ile234Lys) c.713T>A (p.Ile238Lys) c.482T>A (p.Ile161Lys) c.470T>A (p.Ile157Lys) c.*704T>A (n.*704T>A) c.908T>A (p.Ile303Lys) c.677T>A (p.Ile226Lys) c.920T>A (p.Ile307Lys) | |
| 9 | g.99142638T>C | CA374230713 | TGFBR1 | c.701T>C (p.Ile234Thr) c.713T>C (p.Ile238Thr) c.482T>C (p.Ile161Thr) c.470T>C (p.Ile157Thr) c.*704T>C (n.*704T>C) c.908T>C (p.Ile303Thr) c.677T>C (p.Ile226Thr) c.920T>C (p.Ile307Thr) | |
| 9 | g.99142638T>G | CA374230712 | TGFBR1 | c.701T>G (p.Ile234Arg) c.713T>G (p.Ile238Arg) c.482T>G (p.Ile161Arg) c.470T>G (p.Ile157Arg) c.*704T>G (n.*704T>G) c.908T>G (p.Ile303Arg) c.677T>G (p.Ile226Arg) c.920T>G (p.Ile307Arg) | |
| 9 | g.99142639A>C | CA466434493 | TGFBR1 | c.702A>C (p.Ile234=) c.714A>C (p.Ile238=) c.483A>C (p.Ile161=) c.471A>C (p.Ile157=) c.*705A>C (n.*705A>C) c.909A>C (p.Ile303=) c.678A>C (p.Ile226=) c.921A>C (p.Ile307=) | |
| 9 | g.99142639A>G | CA374230714 | TGFBR1 | c.702A>G (p.Ile234Met) c.714A>G (p.Ile238Met) c.483A>G (p.Ile161Met) c.471A>G (p.Ile157Met) c.*705A>G (n.*705A>G) c.909A>G (p.Ile303Met) c.678A>G (p.Ile226Met) c.921A>G (p.Ile307Met) | |
| 9 | g.99142639A>T | CA466434494 | TGFBR1 | c.702A>T (p.Ile234=) c.714A>T (p.Ile238=) c.483A>T (p.Ile161=) c.471A>T (p.Ile157=) c.*705A>T (n.*705A>T) c.909A>T (p.Ile303=) c.678A>T (p.Ile226=) c.921A>T (p.Ile307=) | |
| 9 | g.99142640A>C | CA374230715 | TGFBR1 | c.703A>C (p.Lys235Gln) c.715A>C (p.Lys239Gln) c.484A>C (p.Lys162Gln) c.472A>C (p.Lys158Gln) c.*706A>C (n.*706A>C) c.910A>C (p.Lys304Gln) c.679A>C (p.Lys227Gln) c.922A>C (p.Lys308Gln) | |
| 9 | g.99142640A>G | CA374230716 | TGFBR1 | c.703A>G (p.Lys235Glu) c.715A>G (p.Lys239Glu) c.484A>G (p.Lys162Glu) c.472A>G (p.Lys158Glu) c.*706A>G (n.*706A>G) c.910A>G (p.Lys304Glu) c.679A>G (p.Lys227Glu) c.922A>G (p.Lys308Glu) | |
| 9 | g.99142640A>T | CA374230717 | TGFBR1 | c.703A>T (p.Lys235Ter) c.715A>T (p.Lys239Ter) c.484A>T (p.Lys162Ter) c.472A>T (p.Lys158Ter) c.*706A>T (n.*706A>T) c.910A>T (p.Lys304Ter) c.679A>T (p.Lys227Ter) c.922A>T (p.Lys308Ter) | |
| 9 | g.99142641A>C | CA374230718 | TGFBR1 | c.704A>C (p.Lys235Thr) c.716A>C (p.Lys239Thr) c.485A>C (p.Lys162Thr) c.473A>C (p.Lys158Thr) c.*707A>C (n.*707A>C) c.911A>C (p.Lys304Thr) c.680A>C (p.Lys227Thr) c.923A>C (p.Lys308Thr) | |
| 9 | g.99142641A>G | CA374230719 | TGFBR1 | c.704A>G (p.Lys235Arg) c.716A>G (p.Lys239Arg) c.485A>G (p.Lys162Arg) c.473A>G (p.Lys158Arg) c.*707A>G (n.*707A>G) c.911A>G (p.Lys304Arg) c.680A>G (p.Lys227Arg) c.923A>G (p.Lys308Arg) | |
| 9 | g.99142641A>T | CA374230720 | TGFBR1 | c.704A>T (p.Lys235Ile) c.716A>T (p.Lys239Ile) c.485A>T (p.Lys162Ile) c.473A>T (p.Lys158Ile) c.*707A>T (n.*707A>T) c.911A>T (p.Lys304Ile) c.680A>T (p.Lys227Ile) c.923A>T (p.Lys308Ile) | |
| 9 | g.99142642A>C | CA374230721 | TGFBR1 | c.705A>C (p.Lys235Asn) c.717A>C (p.Lys239Asn) c.486A>C (p.Lys162Asn) c.474A>C (p.Lys158Asn) c.*708A>C (n.*708A>C) c.912A>C (p.Lys304Asn) c.681A>C (p.Lys227Asn) c.924A>C (p.Lys308Asn) | |
| 9 | g.99142642A>G | CA466434495 | TGFBR1 | c.705A>G (p.Lys235=) c.717A>G (p.Lys239=) c.486A>G (p.Lys162=) c.474A>G (p.Lys158=) c.*708A>G (n.*708A>G) c.912A>G (p.Lys304=) c.681A>G (p.Lys227=) c.924A>G (p.Lys308=) | |
| 9 | g.99142642A>T | CA374230722 | TGFBR1 | c.705A>T (p.Lys235Asn) c.717A>T (p.Lys239Asn) c.486A>T (p.Lys162Asn) c.474A>T (p.Lys158Asn) c.*708A>T (n.*708A>T) c.912A>T (p.Lys304Asn) c.681A>T (p.Lys227Asn) c.924A>T (p.Lys308Asn) | |
| 9 | g.99142643C>A | CA374230723 | TGFBR1 | c.706C>A (p.Leu236Ile) c.718C>A (p.Leu240Ile) c.487C>A (p.Leu163Ile) c.475C>A (p.Leu159Ile) c.*709C>A (n.*709C>A) c.913C>A (p.Leu305Ile) c.682C>A (p.Leu228Ile) c.925C>A (p.Leu309Ile) | |
| 9 | g.99142643C>G | CA374230724 | TGFBR1 | c.706C>G (p.Leu236Val) c.718C>G (p.Leu240Val) c.487C>G (p.Leu163Val) c.475C>G (p.Leu159Val) c.*709C>G (n.*709C>G) c.913C>G (p.Leu305Val) c.682C>G (p.Leu228Val) c.925C>G (p.Leu309Val) | |
| 9 | g.99142643C>T | CA374230725 | TGFBR1 | c.706C>T (p.Leu236Phe) c.718C>T (p.Leu240Phe) c.487C>T (p.Leu163Phe) c.475C>T (p.Leu159Phe) c.*709C>T (n.*709C>T) c.913C>T (p.Leu305Phe) c.682C>T (p.Leu228Phe) c.925C>T (p.Leu309Phe) | gnomAD v4 |
| 9 | g.99142644T>A | CA374230728 | TGFBR1 | c.707T>A (p.Leu236His) c.719T>A (p.Leu240His) c.488T>A (p.Leu163His) c.476T>A (p.Leu159His) c.*710T>A (n.*710T>A) c.914T>A (p.Leu305His) c.683T>A (p.Leu228His) c.926T>A (p.Leu309His) | |
| 9 | g.99142644T>C | CA374230726 | TGFBR1 | c.707T>C (p.Leu236Pro) c.719T>C (p.Leu240Pro) c.488T>C (p.Leu163Pro) c.476T>C (p.Leu159Pro) c.*710T>C (n.*710T>C) c.914T>C (p.Leu305Pro) c.683T>C (p.Leu228Pro) c.926T>C (p.Leu309Pro) | |
| 9 | g.99142644T>G | CA374230727 | TGFBR1 | c.707T>G (p.Leu236Arg) c.719T>G (p.Leu240Arg) c.488T>G (p.Leu163Arg) c.476T>G (p.Leu159Arg) c.*710T>G (n.*710T>G) c.914T>G (p.Leu305Arg) c.683T>G (p.Leu228Arg) c.926T>G (p.Leu309Arg) | COSMIC |
| 9 | g.99142645T>A | CA466434496 | TGFBR1 | c.708T>A (p.Leu236=) c.720T>A (p.Leu240=) c.489T>A (p.Leu163=) c.477T>A (p.Leu159=) c.*711T>A (n.*711T>A) c.915T>A (p.Leu305=) c.684T>A (p.Leu228=) c.927T>A (p.Leu309=) | |
| 9 | g.99142645T>C | CA466434497 | TGFBR1 | c.708T>C (p.Leu236=) c.720T>C (p.Leu240=) c.489T>C (p.Leu163=) c.477T>C (p.Leu159=) c.*711T>C (n.*711T>C) c.915T>C (p.Leu305=) c.684T>C (p.Leu228=) c.927T>C (p.Leu309=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99142645T>G | CA466434498 | TGFBR1 | c.708T>G (p.Leu236=) c.720T>G (p.Leu240=) c.489T>G (p.Leu163=) c.477T>G (p.Leu159=) c.*711T>G (n.*711T>G) c.915T>G (p.Leu305=) c.684T>G (p.Leu228=) c.927T>G (p.Leu309=) | |
| 9 | g.99142645T= | CA1867260135 | TGFBR1 | c.708T= (p.Leu236=) c.720T= (p.Leu240=) c.489T= (p.Leu163=) c.477T= (p.Leu159=) c.*711T= (n.*711T=) c.915T= (p.Leu305=) c.684T= (p.Leu228=) c.927T= (p.Leu309=) | |
| 9 | g.99142646G>A | CA374230729 | TGFBR1 | c.709G>A (p.Ala237Thr) c.721G>A (p.Ala241Thr) c.490G>A (p.Ala164Thr) c.478G>A (p.Ala160Thr) c.*712G>A (n.*712G>A) c.916G>A (p.Ala306Thr) c.685G>A (p.Ala229Thr) c.928G>A (p.Ala310Thr) | |
| 9 | g.99142646G>C | CA043319 | TGFBR1 | c.709G>C (p.Ala237Pro) c.721G>C (p.Ala241Pro) c.490G>C (p.Ala164Pro) c.478G>C (p.Ala160Pro) c.*712G>C (n.*712G>C) c.916G>C (p.Ala306Pro) c.685G>C (p.Ala229Pro) c.928G>C (p.Ala310Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99142646G= | CA1867260140 | TGFBR1 | c.709G= (p.Ala237=) c.721G= (p.Ala241=) c.490G= (p.Ala164=) c.478G= (p.Ala160=) c.*712G= (n.*712G=) c.916G= (p.Ala306=) c.685G= (p.Ala229=) c.928G= (p.Ala310=) | |
| 9 | g.99142646G>T | CA043339 | TGFBR1 | c.709G>T (p.Ala237Ser) c.721G>T (p.Ala241Ser) c.490G>T (p.Ala164Ser) c.478G>T (p.Ala160Ser) c.*712G>T (n.*712G>T) c.916G>T (p.Ala306Ser) c.685G>T (p.Ala229Ser) c.928G>T (p.Ala310Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.99142647C>A | CA374230730 | TGFBR1 | c.710C>A (p.Ala237Asp) c.722C>A (p.Ala241Asp) c.491C>A (p.Ala164Asp) c.479C>A (p.Ala160Asp) c.*713C>A (n.*713C>A) c.917C>A (p.Ala306Asp) c.686C>A (p.Ala229Asp) c.929C>A (p.Ala310Asp) | dbSNP gnomAD v4 |
| 9 | g.99142647C>G | CA374230731 | TGFBR1 | c.710C>G (p.Ala237Gly) c.722C>G (p.Ala241Gly) c.491C>G (p.Ala164Gly) c.479C>G (p.Ala160Gly) c.*713C>G (n.*713C>G) c.917C>G (p.Ala306Gly) c.686C>G (p.Ala229Gly) c.929C>G (p.Ala310Gly) | |
| 9 | g.99142647C>T | CA374230732 | TGFBR1 | c.710C>T (p.Ala237Val) c.722C>T (p.Ala241Val) c.491C>T (p.Ala164Val) c.479C>T (p.Ala160Val) c.*713C>T (n.*713C>T) c.917C>T (p.Ala306Val) c.686C>T (p.Ala229Val) c.929C>T (p.Ala310Val) | |
| 9 | g.99142648T>A | CA466434499 | TGFBR1 | c.711T>A (p.Ala237=) c.723T>A (p.Ala241=) c.492T>A (p.Ala164=) c.480T>A (p.Ala160=) c.*714T>A (n.*714T>A) c.918T>A (p.Ala306=) c.687T>A (p.Ala229=) c.930T>A (p.Ala310=) | |
| 9 | g.99142648T>C | CA043354 | TGFBR1 | c.711T>C (p.Ala237=) c.723T>C (p.Ala241=) c.492T>C (p.Ala164=) c.480T>C (p.Ala160=) c.*714T>C (n.*714T>C) c.918T>C (p.Ala306=) c.687T>C (p.Ala229=) c.930T>C (p.Ala310=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99142648T>G | CA466434500 | TGFBR1 | c.711T>G (p.Ala237=) c.723T>G (p.Ala241=) c.492T>G (p.Ala164=) c.480T>G (p.Ala160=) c.*714T>G (n.*714T>G) c.918T>G (p.Ala306=) c.687T>G (p.Ala229=) c.930T>G (p.Ala310=) | |
| 9 | g.99142648T= | CA1867260145 | TGFBR1 | c.711T= (p.Ala237=) c.723T= (p.Ala241=) c.492T= (p.Ala164=) c.480T= (p.Ala160=) c.*714T= (n.*714T=) c.918T= (p.Ala306=) c.687T= (p.Ala229=) c.930T= (p.Ala310=) | |
| 9 | g.99142649C>A | CA374230733 | TGFBR1 | c.712C>A (p.Leu238Met) c.724C>A (p.Leu242Met) c.493C>A (p.Leu165Met) c.481C>A (p.Leu161Met) c.*715C>A (n.*715C>A) c.919C>A (p.Leu307Met) c.688C>A (p.Leu230Met) c.931C>A (p.Leu311Met) | dbSNP |
| 9 | g.99142649C>G | CA374230734 | TGFBR1 | c.712C>G (p.Leu238Val) c.724C>G (p.Leu242Val) c.493C>G (p.Leu165Val) c.481C>G (p.Leu161Val) c.*715C>G (n.*715C>G) c.919C>G (p.Leu307Val) c.688C>G (p.Leu230Val) c.931C>G (p.Leu311Val) | |
| 9 | g.99142649C>T | CA466434501 | TGFBR1 | c.712C>T (p.Leu238=) c.724C>T (p.Leu242=) c.493C>T (p.Leu165=) c.481C>T (p.Leu161=) c.*715C>T (n.*715C>T) c.919C>T (p.Leu307=) c.688C>T (p.Leu230=) c.931C>T (p.Leu311=) | |
| 9 | g.99142650T>A | CA374230735 | TGFBR1 | c.713T>A (p.Leu238Gln) c.725T>A (p.Leu242Gln) c.494T>A (p.Leu165Gln) c.482T>A (p.Leu161Gln) c.*716T>A (n.*716T>A) c.920T>A (p.Leu307Gln) c.689T>A (p.Leu230Gln) c.932T>A (p.Leu311Gln) | |
| 9 | g.99142650T>C | CA374230736 | TGFBR1 | c.713T>C (p.Leu238Pro) c.725T>C (p.Leu242Pro) c.494T>C (p.Leu165Pro) c.482T>C (p.Leu161Pro) c.*716T>C (n.*716T>C) c.920T>C (p.Leu307Pro) c.689T>C (p.Leu230Pro) c.932T>C (p.Leu311Pro) | |
| 9 | g.99142650T>G | CA374230737 | TGFBR1 | c.713T>G (p.Leu238Arg) c.725T>G (p.Leu242Arg) c.494T>G (p.Leu165Arg) c.482T>G (p.Leu161Arg) c.*716T>G (n.*716T>G) c.920T>G (p.Leu307Arg) c.689T>G (p.Leu230Arg) c.932T>G (p.Leu311Arg) | |
| 9 | g.99142651G>A | CA466434502 | TGFBR1 | c.714G>A (p.Leu238=) c.726G>A (p.Leu242=) c.495G>A (p.Leu165=) c.483G>A (p.Leu161=) c.*717G>A (n.*717G>A) c.921G>A (p.Leu307=) c.690G>A (p.Leu230=) c.933G>A (p.Leu311=) | ClinVar dbSNP |
| 9 | g.99142651G>C | CA466434503 | TGFBR1 | c.714G>C (p.Leu238=) c.726G>C (p.Leu242=) c.495G>C (p.Leu165=) c.483G>C (p.Leu161=) c.*717G>C (n.*717G>C) c.921G>C (p.Leu307=) c.690G>C (p.Leu230=) c.933G>C (p.Leu311=) | |
| 9 | g.99142651G>T | CA466434504 | TGFBR1 | c.714G>T (p.Leu238=) c.726G>T (p.Leu242=) c.495G>T (p.Leu165=) c.483G>T (p.Leu161=) c.*717G>T (n.*717G>T) c.921G>T (p.Leu307=) c.690G>T (p.Leu230=) c.933G>T (p.Leu311=) | |
| 9 | g.99142652T>A | CA374230739 | TGFBR1 | c.715T>A (p.Ser239Thr) c.727T>A (p.Ser243Thr) c.496T>A (p.Ser166Thr) c.484T>A (p.Ser162Thr) c.*718T>A (n.*718T>A) c.922T>A (p.Ser308Thr) c.691T>A (p.Ser231Thr) c.934T>A (p.Ser312Thr) | |
| 9 | g.99142652T>C | CA374230740 | TGFBR1 | c.715T>C (p.Ser239Pro) c.727T>C (p.Ser243Pro) c.496T>C (p.Ser166Pro) c.484T>C (p.Ser162Pro) c.*718T>C (n.*718T>C) c.922T>C (p.Ser308Pro) c.691T>C (p.Ser231Pro) c.934T>C (p.Ser312Pro) | |
| 9 | g.99142652T>G | CA374230738 | TGFBR1 | c.715T>G (p.Ser239Ala) c.727T>G (p.Ser243Ala) c.496T>G (p.Ser166Ala) c.484T>G (p.Ser162Ala) c.*718T>G (n.*718T>G) c.922T>G (p.Ser308Ala) c.691T>G (p.Ser231Ala) c.934T>G (p.Ser312Ala) | |
| 9 | g.99142653C>A | CA374230743 | TGFBR1 | c.716C>A (p.Ser239Tyr) c.728C>A (p.Ser243Tyr) c.497C>A (p.Ser166Tyr) c.485C>A (p.Ser162Tyr) c.*719C>A (n.*719C>A) c.923C>A (p.Ser308Tyr) c.692C>A (p.Ser231Tyr) c.935C>A (p.Ser312Tyr) | |
| 9 | g.99142653C= | CA1867260150 | TGFBR1 | c.716C= (p.Ser239=) c.728C= (p.Ser243=) c.497C= (p.Ser166=) c.485C= (p.Ser162=) c.*719C= (n.*719C=) c.923C= (p.Ser308=) c.692C= (p.Ser231=) c.935C= (p.Ser312=) | |
| 9 | g.99142653C>G | CA374230741 | TGFBR1 | c.716C>G (p.Ser239Cys) c.728C>G (p.Ser243Cys) c.497C>G (p.Ser166Cys) c.485C>G (p.Ser162Cys) c.*719C>G (n.*719C>G) c.923C>G (p.Ser308Cys) c.692C>G (p.Ser231Cys) c.935C>G (p.Ser312Cys) | |
| 9 | g.99142653C>T | CA374230742 | TGFBR1 | c.716C>T (p.Ser239Phe) c.728C>T (p.Ser243Phe) c.497C>T (p.Ser166Phe) c.485C>T (p.Ser162Phe) c.*719C>T (n.*719C>T) c.923C>T (p.Ser308Phe) c.692C>T (p.Ser231Phe) c.935C>T (p.Ser312Phe) | ClinVar dbSNP |
| 9 | g.99142654C>A | CA466434505 | TGFBR1 | c.717C>A (p.Ser239=) c.729C>A (p.Ser243=) c.498C>A (p.Ser166=) c.486C>A (p.Ser162=) c.*720C>A (n.*720C>A) c.924C>A (p.Ser308=) c.693C>A (p.Ser231=) c.936C>A (p.Ser312=) | |
| 9 | g.99142654C= | CA1867260153 | TGFBR1 | c.717C= (p.Ser239=) c.729C= (p.Ser243=) c.498C= (p.Ser166=) c.486C= (p.Ser162=) c.*720C= (n.*720C=) c.924C= (p.Ser308=) c.693C= (p.Ser231=) c.936C= (p.Ser312=) | |
| 9 | g.99142654C>G | CA466434506 | TGFBR1 | c.717C>G (p.Ser239=) c.729C>G (p.Ser243=) c.498C>G (p.Ser166=) c.486C>G (p.Ser162=) c.*720C>G (n.*720C>G) c.924C>G (p.Ser308=) c.693C>G (p.Ser231=) c.936C>G (p.Ser312=) | |
| 9 | g.99142654C>T | CA466434507 | TGFBR1 | c.717C>T (p.Ser239=) c.729C>T (p.Ser243=) c.498C>T (p.Ser166=) c.486C>T (p.Ser162=) c.*720C>T (n.*720C>T) c.924C>T (p.Ser308=) c.693C>T (p.Ser231=) c.936C>T (p.Ser312=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99142655A>C | CA374230744 | TGFBR1 | c.718A>C (p.Thr240Pro) c.730A>C (p.Thr244Pro) c.499A>C (p.Thr167Pro) c.487A>C (p.Thr163Pro) c.*721A>C (n.*721A>C) c.925A>C (p.Thr309Pro) c.694A>C (p.Thr232Pro) c.937A>C (p.Thr313Pro) | |
| 9 | g.99142655A>G | CA374230745 | TGFBR1 | c.718A>G (p.Thr240Ala) c.730A>G (p.Thr244Ala) c.499A>G (p.Thr167Ala) c.487A>G (p.Thr163Ala) c.*721A>G (n.*721A>G) c.925A>G (p.Thr309Ala) c.694A>G (p.Thr232Ala) c.937A>G (p.Thr313Ala) | |
| 9 | g.99142655A>T | CA374230746 | TGFBR1 | c.718A>T (p.Thr240Ser) c.730A>T (p.Thr244Ser) c.499A>T (p.Thr167Ser) c.487A>T (p.Thr163Ser) c.*721A>T (n.*721A>T) c.925A>T (p.Thr309Ser) c.694A>T (p.Thr232Ser) c.937A>T (p.Thr313Ser) | |
| 9 | g.99142656C>A | CA374230747 | TGFBR1 | c.719C>A (p.Thr240Lys) c.731C>A (p.Thr244Lys) c.500C>A (p.Thr167Lys) c.488C>A (p.Thr163Lys) c.*722C>A (n.*722C>A) c.926C>A (p.Thr309Lys) c.695C>A (p.Thr232Lys) c.938C>A (p.Thr313Lys) | |
| 9 | g.99142656C= | CA1867260157 | TGFBR1 | c.719C= (p.Thr240=) c.731C= (p.Thr244=) c.500C= (p.Thr167=) c.488C= (p.Thr163=) c.*722C= (n.*722C=) c.926C= (p.Thr309=) c.695C= (p.Thr232=) c.938C= (p.Thr313=) | |
| 9 | g.99142656C>G | CA374230748 | TGFBR1 | c.719C>G (p.Thr240Arg) c.731C>G (p.Thr244Arg) c.500C>G (p.Thr167Arg) c.488C>G (p.Thr163Arg) c.*722C>G (n.*722C>G) c.926C>G (p.Thr309Arg) c.695C>G (p.Thr232Arg) c.938C>G (p.Thr313Arg) | |
| 9 | g.99142656C>T | CA043369 | TGFBR1 | c.719C>T (p.Thr240Met) c.731C>T (p.Thr244Met) c.500C>T (p.Thr167Met) c.488C>T (p.Thr163Met) c.*722C>T (n.*722C>T) c.926C>T (p.Thr309Met) c.695C>T (p.Thr232Met) c.938C>T (p.Thr313Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142657G>A | CA043383 | TGFBR1 | c.720G>A (p.Thr240=) c.732G>A (p.Thr244=) c.501G>A (p.Thr167=) c.489G>A (p.Thr163=) c.*723G>A (n.*723G>A) c.927G>A (p.Thr309=) c.696G>A (p.Thr232=) c.939G>A (p.Thr313=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142657G>C | CA466434508 | TGFBR1 | c.720G>C (p.Thr240=) c.732G>C (p.Thr244=) c.501G>C (p.Thr167=) c.489G>C (p.Thr163=) c.*723G>C (n.*723G>C) c.927G>C (p.Thr309=) c.696G>C (p.Thr232=) c.939G>C (p.Thr313=) | ClinVar dbSNP |
| 9 | g.99142657G= | CA1867260160 | TGFBR1 | c.720G= (p.Thr240=) c.732G= (p.Thr244=) c.501G= (p.Thr167=) c.489G= (p.Thr163=) c.*723G= (n.*723G=) c.927G= (p.Thr309=) c.696G= (p.Thr232=) c.939G= (p.Thr313=) | |
| 9 | g.99142657G>T | CA466434509 | TGFBR1 | c.720G>T (p.Thr240=) c.732G>T (p.Thr244=) c.501G>T (p.Thr167=) c.489G>T (p.Thr163=) c.*723G>T (n.*723G>T) c.927G>T (p.Thr309=) c.696G>T (p.Thr232=) c.939G>T (p.Thr313=) | |
| 9 | g.99142658G>A | CA374230749 | TGFBR1 | c.721G>A (p.Ala241Thr) c.733G>A (p.Ala245Thr) c.502G>A (p.Ala168Thr) c.490G>A (p.Ala164Thr) c.*724G>A (n.*724G>A) c.928G>A (p.Ala310Thr) c.697G>A (p.Ala233Thr) c.940G>A (p.Ala314Thr) | |
| 9 | g.99142658G>C | CA374230750 | TGFBR1 | c.721G>C (p.Ala241Pro) c.733G>C (p.Ala245Pro) c.502G>C (p.Ala168Pro) c.490G>C (p.Ala164Pro) c.*724G>C (n.*724G>C) c.928G>C (p.Ala310Pro) c.697G>C (p.Ala233Pro) c.940G>C (p.Ala314Pro) | |
| 9 | g.99142658G>T | CA374230751 | TGFBR1 | c.721G>T (p.Ala241Ser) c.733G>T (p.Ala245Ser) c.502G>T (p.Ala168Ser) c.490G>T (p.Ala164Ser) c.*724G>T (n.*724G>T) c.928G>T (p.Ala310Ser) c.697G>T (p.Ala233Ser) c.940G>T (p.Ala314Ser) | |
| 9 | g.99142659C>A | CA374230752 | TGFBR1 | c.722C>A (p.Ala241Glu) c.734C>A (p.Ala245Glu) c.503C>A (p.Ala168Glu) c.491C>A (p.Ala164Glu) c.*725C>A (n.*725C>A) c.929C>A (p.Ala310Glu) c.698C>A (p.Ala233Glu) c.941C>A (p.Ala314Glu) | ClinVar dbSNP |
| 9 | g.99142659C= | CA1867260166 | TGFBR1 | c.722C= (p.Ala241=) c.734C= (p.Ala245=) c.503C= (p.Ala168=) c.491C= (p.Ala164=) c.*725C= (n.*725C=) c.929C= (p.Ala310=) c.698C= (p.Ala233=) c.941C= (p.Ala314=) | |
| 9 | g.99142659C>G | CA374230753 | TGFBR1 | c.722C>G (p.Ala241Gly) c.734C>G (p.Ala245Gly) c.503C>G (p.Ala168Gly) c.491C>G (p.Ala164Gly) c.*725C>G (n.*725C>G) c.929C>G (p.Ala310Gly) c.698C>G (p.Ala233Gly) c.941C>G (p.Ala314Gly) | |
| 9 | g.99142659C>T | CA043393 | TGFBR1 | c.722C>T (p.Ala241Val) c.734C>T (p.Ala245Val) c.503C>T (p.Ala168Val) c.491C>T (p.Ala164Val) c.*725C>T (n.*725C>T) c.929C>T (p.Ala310Val) c.698C>T (p.Ala233Val) c.941C>T (p.Ala314Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142660G>A | CA043414 | TGFBR1 | c.723G>A (p.Ala241=) c.735G>A (p.Ala245=) c.504G>A (p.Ala168=) c.492G>A (p.Ala164=) c.*726G>A (n.*726G>A) c.930G>A (p.Ala310=) c.699G>A (p.Ala233=) c.942G>A (p.Ala314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142660G>C | CA466434510 | TGFBR1 | c.723G>C (p.Ala241=) c.735G>C (p.Ala245=) c.504G>C (p.Ala168=) c.492G>C (p.Ala164=) c.*726G>C (n.*726G>C) c.930G>C (p.Ala310=) c.699G>C (p.Ala233=) c.942G>C (p.Ala314=) | |
| 9 | g.99142660G= | CA1867260169 | TGFBR1 | c.723G= (p.Ala241=) c.735G= (p.Ala245=) c.504G= (p.Ala168=) c.492G= (p.Ala164=) c.*726G= (n.*726G=) c.930G= (p.Ala310=) c.699G= (p.Ala233=) c.942G= (p.Ala314=) | |
| 9 | g.99142660G>T | CA466434511 | TGFBR1 | c.723G>T (p.Ala241=) c.735G>T (p.Ala245=) c.504G>T (p.Ala168=) c.492G>T (p.Ala164=) c.*726G>T (n.*726G>T) c.930G>T (p.Ala310=) c.699G>T (p.Ala233=) c.942G>T (p.Ala314=) | ClinVar |
| 9 | g.99142661A>C | CA374230754 | TGFBR1 | c.724A>C (p.Ser242Arg) c.736A>C (p.Ser246Arg) c.505A>C (p.Ser169Arg) c.493A>C (p.Ser165Arg) c.*727A>C (n.*727A>C) c.931A>C (p.Ser311Arg) c.700A>C (p.Ser234Arg) c.943A>C (p.Ser315Arg) | |
| 9 | g.99142661A>G | CA374230755 | TGFBR1 | c.724A>G (p.Ser242Gly) c.736A>G (p.Ser246Gly) c.505A>G (p.Ser169Gly) c.493A>G (p.Ser165Gly) c.*727A>G (n.*727A>G) c.931A>G (p.Ser311Gly) c.700A>G (p.Ser234Gly) c.943A>G (p.Ser315Gly) | |
| 9 | g.99142661A>T | CA374230756 | TGFBR1 | c.724A>T (p.Ser242Cys) c.736A>T (p.Ser246Cys) c.505A>T (p.Ser169Cys) c.493A>T (p.Ser165Cys) c.*727A>T (n.*727A>T) c.931A>T (p.Ser311Cys) c.700A>T (p.Ser234Cys) c.943A>T (p.Ser315Cys) | |
| 9 | g.99142662G>A | CA374230759 | TGFBR1 | c.725G>A (p.Ser242Asn) c.737G>A (p.Ser246Asn) c.506G>A (p.Ser169Asn) c.494G>A (p.Ser165Asn) c.*728G>A (n.*728G>A) c.932G>A (p.Ser311Asn) c.701G>A (p.Ser234Asn) c.944G>A (p.Ser315Asn) | gnomAD v4 |
| 9 | g.99142662G>C | CA374230758 | TGFBR1 | c.725G>C (p.Ser242Thr) c.737G>C (p.Ser246Thr) c.506G>C (p.Ser169Thr) c.494G>C (p.Ser165Thr) c.*728G>C (n.*728G>C) c.932G>C (p.Ser311Thr) c.701G>C (p.Ser234Thr) c.944G>C (p.Ser315Thr) | |
| 9 | g.99142662G>T | CA374230757 | TGFBR1 | c.725G>T (p.Ser242Ile) c.737G>T (p.Ser246Ile) c.506G>T (p.Ser169Ile) c.494G>T (p.Ser165Ile) c.*728G>T (n.*728G>T) c.932G>T (p.Ser311Ile) c.701G>T (p.Ser234Ile) c.944G>T (p.Ser315Ile) | |
| 9 | g.99142663C>A | CA374230760 | TGFBR1 | c.726C>A (p.Ser242Arg) c.738C>A (p.Ser246Arg) c.507C>A (p.Ser169Arg) c.495C>A (p.Ser165Arg) c.*729C>A (n.*729C>A) c.933C>A (p.Ser311Arg) c.702C>A (p.Ser234Arg) c.945C>A (p.Ser315Arg) | |
| 9 | g.99142663C= | CA1867260175 | TGFBR1 | c.726C= (p.Ser242=) c.738C= (p.Ser246=) c.507C= (p.Ser169=) c.495C= (p.Ser165=) c.*729C= (n.*729C=) c.933C= (p.Ser311=) c.702C= (p.Ser234=) c.945C= (p.Ser315=) | |
| 9 | g.99142663C>G | CA374230761 | TGFBR1 | c.726C>G (p.Ser242Arg) c.738C>G (p.Ser246Arg) c.507C>G (p.Ser169Arg) c.495C>G (p.Ser165Arg) c.*729C>G (n.*729C>G) c.933C>G (p.Ser311Arg) c.702C>G (p.Ser234Arg) c.945C>G (p.Ser315Arg) | |
| 9 | g.99142663C>T | CA043430 | TGFBR1 | c.726C>T (p.Ser242=) c.738C>T (p.Ser246=) c.507C>T (p.Ser169=) c.495C>T (p.Ser165=) c.*729C>T (n.*729C>T) c.933C>T (p.Ser311=) c.702C>T (p.Ser234=) c.945C>T (p.Ser315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142664G>A | CA043448 | TGFBR1 | c.727G>A (p.Gly243Ser) c.739G>A (p.Gly247Ser) c.508G>A (p.Gly170Ser) c.496G>A (p.Gly166Ser) c.*730G>A (n.*730G>A) c.934G>A (p.Gly312Ser) c.703G>A (p.Gly235Ser) c.946G>A (p.Gly316Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142664G>C | CA374230762 | TGFBR1 | c.727G>C (p.Gly243Arg) c.739G>C (p.Gly247Arg) c.508G>C (p.Gly170Arg) c.496G>C (p.Gly166Arg) c.*730G>C (n.*730G>C) c.934G>C (p.Gly312Arg) c.703G>C (p.Gly235Arg) c.946G>C (p.Gly316Arg) | |
| 9 | g.99142664G= | CA1867260180 | TGFBR1 | c.727G= (p.Gly243=) c.739G= (p.Gly247=) c.508G= (p.Gly170=) c.496G= (p.Gly166=) c.*730G= (n.*730G=) c.934G= (p.Gly312=) c.703G= (p.Gly235=) c.946G= (p.Gly316=) | |
| 9 | g.99142664G>T | CA374230763 | TGFBR1 | c.727G>T (p.Gly243Cys) c.739G>T (p.Gly247Cys) c.508G>T (p.Gly170Cys) c.496G>T (p.Gly166Cys) c.*730G>T (n.*730G>T) c.934G>T (p.Gly312Cys) c.703G>T (p.Gly235Cys) c.946G>T (p.Gly316Cys) | |
| 9 | g.99142665G>A | CA352067 | TGFBR1 | c.728G>A (p.Gly243Asp) c.740G>A (p.Gly247Asp) c.509G>A (p.Gly170Asp) c.497G>A (p.Gly166Asp) c.*731G>A (n.*731G>A) c.935G>A (p.Gly312Asp) c.704G>A (p.Gly235Asp) c.947G>A (p.Gly316Asp) | ClinVar dbSNP COSMIC |
| 9 | g.99142665G>C | CA374230765 | TGFBR1 | c.728G>C (p.Gly243Ala) c.740G>C (p.Gly247Ala) c.509G>C (p.Gly170Ala) c.497G>C (p.Gly166Ala) c.*731G>C (n.*731G>C) c.935G>C (p.Gly312Ala) c.704G>C (p.Gly235Ala) c.947G>C (p.Gly316Ala) | |
| 9 | g.99142665G= | CA1867260190 | TGFBR1 | c.728G= (p.Gly243=) c.740G= (p.Gly247=) c.509G= (p.Gly170=) c.497G= (p.Gly166=) c.*731G= (n.*731G=) c.935G= (p.Gly312=) c.704G= (p.Gly235=) c.947G= (p.Gly316=) | |
| 9 | g.99142665G>T | CA374230764 | TGFBR1 | c.728G>T (p.Gly243Val) c.740G>T (p.Gly247Val) c.509G>T (p.Gly170Val) c.497G>T (p.Gly166Val) c.*731G>T (n.*731G>T) c.935G>T (p.Gly312Val) c.704G>T (p.Gly235Val) c.947G>T (p.Gly316Val) | ClinVar dbSNP COSMIC |
| 9 | g.99142666T>A | CA466434512 | TGFBR1 | c.729T>A (p.Gly243=) c.741T>A (p.Gly247=) c.510T>A (p.Gly170=) c.498T>A (p.Gly166=) c.*732T>A (n.*732T>A) c.936T>A (p.Gly312=) c.705T>A (p.Gly235=) c.948T>A (p.Gly316=) | |
| 9 | g.99142666T>C | CA466434513 | TGFBR1 | c.729T>C (p.Gly243=) c.741T>C (p.Gly247=) c.510T>C (p.Gly170=) c.498T>C (p.Gly166=) c.*732T>C (n.*732T>C) c.936T>C (p.Gly312=) c.705T>C (p.Gly235=) c.948T>C (p.Gly316=) | |
| 9 | g.99142666T>G | CA466434514 | TGFBR1 | c.729T>G (p.Gly243=) c.741T>G (p.Gly247=) c.510T>G (p.Gly170=) c.498T>G (p.Gly166=) c.*732T>G (n.*732T>G) c.936T>G (p.Gly312=) c.705T>G (p.Gly235=) c.948T>G (p.Gly316=) | |
| 9 | g.99142667C>A | CA374230766 | TGFBR1 | c.730C>A (p.Leu244Ile) c.742C>A (p.Leu248Ile) c.511C>A (p.Leu171Ile) c.499C>A (p.Leu167Ile) c.*733C>A (n.*733C>A) c.937C>A (p.Leu313Ile) c.706C>A (p.Leu236Ile) c.949C>A (p.Leu317Ile) | |
| 9 | g.99142667C>G | CA374230767 | TGFBR1 | c.730C>G (p.Leu244Val) c.742C>G (p.Leu248Val) c.511C>G (p.Leu171Val) c.499C>G (p.Leu167Val) c.*733C>G (n.*733C>G) c.937C>G (p.Leu313Val) c.706C>G (p.Leu236Val) c.949C>G (p.Leu317Val) | gnomAD v4 |
| 9 | g.99142667C>T | CA374230768 | TGFBR1 | c.730C>T (p.Leu244Phe) c.742C>T (p.Leu248Phe) c.511C>T (p.Leu171Phe) c.499C>T (p.Leu167Phe) c.*733C>T (n.*733C>T) c.937C>T (p.Leu313Phe) c.706C>T (p.Leu236Phe) c.949C>T (p.Leu317Phe) | |
| 9 | g.99142668T>A | CA374230769 | TGFBR1 | c.731T>A (p.Leu244His) c.743T>A (p.Leu248His) c.512T>A (p.Leu171His) c.500T>A (p.Leu167His) c.*734T>A (n.*734T>A) c.938T>A (p.Leu313His) c.707T>A (p.Leu236His) c.950T>A (p.Leu317His) | |
| 9 | g.99142668T>C | CA374230770 | TGFBR1 | c.731T>C (p.Leu244Pro) c.743T>C (p.Leu248Pro) c.512T>C (p.Leu171Pro) c.500T>C (p.Leu167Pro) c.*734T>C (n.*734T>C) c.938T>C (p.Leu313Pro) c.707T>C (p.Leu236Pro) c.950T>C (p.Leu317Pro) | |
| 9 | g.99142668T>G | CA374230771 | TGFBR1 | c.731T>G (p.Leu244Arg) c.743T>G (p.Leu248Arg) c.512T>G (p.Leu171Arg) c.500T>G (p.Leu167Arg) c.*734T>G (n.*734T>G) c.938T>G (p.Leu313Arg) c.707T>G (p.Leu236Arg) c.950T>G (p.Leu317Arg) | |
| 9 | g.99142669T>A | CA466434516 | TGFBR1 | c.732T>A (p.Leu244=) c.744T>A (p.Leu248=) c.513T>A (p.Leu171=) c.501T>A (p.Leu167=) c.*735T>A (n.*735T>A) c.939T>A (p.Leu313=) c.708T>A (p.Leu236=) c.951T>A (p.Leu317=) | |
| 9 | g.99142669T>C | CA466434517 | TGFBR1 | c.732T>C (p.Leu244=) c.744T>C (p.Leu248=) c.513T>C (p.Leu171=) c.501T>C (p.Leu167=) c.*735T>C (n.*735T>C) c.939T>C (p.Leu313=) c.708T>C (p.Leu236=) c.951T>C (p.Leu317=) | gnomAD v4 |
| 9 | g.99142669T>G | CA466434515 | TGFBR1 | c.732T>G (p.Leu244=) c.744T>G (p.Leu248=) c.513T>G (p.Leu171=) c.501T>G (p.Leu167=) c.*735T>G (n.*735T>G) c.939T>G (p.Leu313=) c.708T>G (p.Leu236=) c.951T>G (p.Leu317=) | |
| 9 | g.99142670G>A | CA374230774 | TGFBR1 | c.733G>A (p.Ala245Thr) c.745G>A (p.Ala249Thr) c.514G>A (p.Ala172Thr) c.502G>A (p.Ala168Thr) c.*736G>A (n.*736G>A) c.940G>A (p.Ala314Thr) c.709G>A (p.Ala237Thr) c.952G>A (p.Ala318Thr) | COSMIC |
| 9 | g.99142670G>C | CA374230773 | TGFBR1 | c.733G>C (p.Ala245Pro) c.745G>C (p.Ala249Pro) c.514G>C (p.Ala172Pro) c.502G>C (p.Ala168Pro) c.*736G>C (n.*736G>C) c.940G>C (p.Ala314Pro) c.709G>C (p.Ala237Pro) c.952G>C (p.Ala318Pro) | |
| 9 | g.99142670G= | CA1867260197 | TGFBR1 | c.733G= (p.Ala245=) c.745G= (p.Ala249=) c.514G= (p.Ala172=) c.502G= (p.Ala168=) c.*736G= (n.*736G=) c.940G= (p.Ala314=) c.709G= (p.Ala237=) c.952G= (p.Ala318=) | |
| 9 | g.99142670G>T | CA374230772 | TGFBR1 | c.733G>T (p.Ala245Ser) c.745G>T (p.Ala249Ser) c.514G>T (p.Ala172Ser) c.502G>T (p.Ala168Ser) c.*736G>T (n.*736G>T) c.940G>T (p.Ala314Ser) c.709G>T (p.Ala237Ser) c.952G>T (p.Ala318Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99142671C>A | CA374230775 | TGFBR1 | c.734C>A (p.Ala245Asp) c.746C>A (p.Ala249Asp) c.515C>A (p.Ala172Asp) c.503C>A (p.Ala168Asp) c.*737C>A (n.*737C>A) c.941C>A (p.Ala314Asp) c.710C>A (p.Ala237Asp) c.953C>A (p.Ala318Asp) | |
| 9 | g.99142671C>G | CA374230776 | TGFBR1 | c.734C>G (p.Ala245Gly) c.746C>G (p.Ala249Gly) c.515C>G (p.Ala172Gly) c.503C>G (p.Ala168Gly) c.*737C>G (n.*737C>G) c.941C>G (p.Ala314Gly) c.710C>G (p.Ala237Gly) c.953C>G (p.Ala318Gly) | |
| 9 | g.99142671C>T | CA374230777 | TGFBR1 | c.734C>T (p.Ala245Val) c.746C>T (p.Ala249Val) c.515C>T (p.Ala172Val) c.503C>T (p.Ala168Val) c.*737C>T (n.*737C>T) c.941C>T (p.Ala314Val) c.710C>T (p.Ala237Val) c.953C>T (p.Ala318Val) | dbSNP |
| 9 | g.99142672C>A | CA466434520 | TGFBR1 | c.735C>A (p.Ala245=) c.747C>A (p.Ala249=) c.516C>A (p.Ala172=) c.504C>A (p.Ala168=) c.*738C>A (n.*738C>A) c.942C>A (p.Ala314=) c.711C>A (p.Ala237=) c.954C>A (p.Ala318=) | |
| 9 | g.99142672C>G | CA466434518 | TGFBR1 | c.735C>G (p.Ala245=) c.747C>G (p.Ala249=) c.516C>G (p.Ala172=) c.504C>G (p.Ala168=) c.*738C>G (n.*738C>G) c.942C>G (p.Ala314=) c.711C>G (p.Ala237=) c.954C>G (p.Ala318=) | |
| 9 | g.99142672C>T | CA466434519 | TGFBR1 | c.735C>T (p.Ala245=) c.747C>T (p.Ala249=) c.516C>T (p.Ala172=) c.504C>T (p.Ala168=) c.*738C>T (n.*738C>T) c.942C>T (p.Ala314=) c.711C>T (p.Ala237=) c.954C>T (p.Ala318=) | gnomAD v4 |
| 9 | g.99142673C>A | CA374230778 | TGFBR1 | c.736C>A (p.His246Asn) c.748C>A (p.His250Asn) c.517C>A (p.His173Asn) c.505C>A (p.His169Asn) c.*739C>A (n.*739C>A) c.943C>A (p.His315Asn) c.712C>A (p.His238Asn) c.955C>A (p.His319Asn) | dbSNP |
| 9 | g.99142673C>G | CA374230779 | TGFBR1 | c.736C>G (p.His246Asp) c.748C>G (p.His250Asp) c.517C>G (p.His173Asp) c.505C>G (p.His169Asp) c.*739C>G (n.*739C>G) c.943C>G (p.His315Asp) c.712C>G (p.His238Asp) c.955C>G (p.His319Asp) | |
| 9 | g.99142673C>T | CA374230780 | TGFBR1 | c.736C>T (p.His246Tyr) c.748C>T (p.His250Tyr) c.517C>T (p.His173Tyr) c.505C>T (p.His169Tyr) c.*739C>T (n.*739C>T) c.943C>T (p.His315Tyr) c.712C>T (p.His238Tyr) c.955C>T (p.His319Tyr) | ClinVar dbSNP |
| 9 | g.99142674A= | CA1867260202 | TGFBR1 | c.737A= (p.His246=) c.749A= (p.His250=) c.518A= (p.His173=) c.506A= (p.His169=) c.*740A= (n.*740A=) c.944A= (p.His315=) c.713A= (p.His238=) c.956A= (p.His319=) | |
| 9 | g.99142674A>C | CA374230781 | TGFBR1 | c.737A>C (p.His246Pro) c.749A>C (p.His250Pro) c.518A>C (p.His173Pro) c.506A>C (p.His169Pro) c.*740A>C (n.*740A>C) c.944A>C (p.His315Pro) c.713A>C (p.His238Pro) c.956A>C (p.His319Pro) | |
| 9 | g.99142674A>G | CA16612814 | TGFBR1 | c.737A>G (p.His246Arg) c.749A>G (p.His250Arg) c.518A>G (p.His173Arg) c.506A>G (p.His169Arg) c.*740A>G (n.*740A>G) c.944A>G (p.His315Arg) c.713A>G (p.His238Arg) c.956A>G (p.His319Arg) | ClinVar dbSNP |
| 9 | g.99142674A>T | CA374230782 | TGFBR1 | c.737A>T (p.His246Leu) c.749A>T (p.His250Leu) c.518A>T (p.His173Leu) c.506A>T (p.His169Leu) c.*740A>T (n.*740A>T) c.944A>T (p.His315Leu) c.713A>T (p.His238Leu) c.956A>T (p.His319Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99142675T>A | CA374230783 | TGFBR1 | c.738T>A (p.His246Gln) c.750T>A (p.His250Gln) c.519T>A (p.His173Gln) c.507T>A (p.His169Gln) c.*741T>A (n.*741T>A) c.945T>A (p.His315Gln) c.714T>A (p.His238Gln) c.957T>A (p.His319Gln) | |
| 9 | g.99142675T>C | CA043467 | TGFBR1 | c.738T>C (p.His246=) c.750T>C (p.His250=) c.519T>C (p.His173=) c.507T>C (p.His169=) c.*741T>C (n.*741T>C) c.945T>C (p.His315=) c.714T>C (p.His238=) c.957T>C (p.His319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99142675T>G | CA374230784 | TGFBR1 | c.738T>G (p.His246Gln) c.750T>G (p.His250Gln) c.519T>G (p.His173Gln) c.507T>G (p.His169Gln) c.*741T>G (n.*741T>G) c.945T>G (p.His315Gln) c.714T>G (p.His238Gln) c.957T>G (p.His319Gln) | |
| 9 | g.99142675T= | CA1867260205 | TGFBR1 | c.738T= (p.His246=) c.750T= (p.His250=) c.519T= (p.His173=) c.507T= (p.His169=) c.*741T= (n.*741T=) c.945T= (p.His315=) c.714T= (p.His238=) c.957T= (p.His319=) | |
| 9 | g.99142676C>A | CA374230785 | TGFBR1 | c.739C>A (p.Leu247Ile) c.751C>A (p.Leu251Ile) c.520C>A (p.Leu174Ile) c.508C>A (p.Leu170Ile) c.*742C>A (n.*742C>A) c.946C>A (p.Leu316Ile) c.715C>A (p.Leu239Ile) c.958C>A (p.Leu320Ile) | |
| 9 | g.99142676C>G | CA374230786 | TGFBR1 | c.739C>G (p.Leu247Val) c.751C>G (p.Leu251Val) c.520C>G (p.Leu174Val) c.508C>G (p.Leu170Val) c.*742C>G (n.*742C>G) c.946C>G (p.Leu316Val) c.715C>G (p.Leu239Val) c.958C>G (p.Leu320Val) | |
| 9 | g.99142676C>T | CA374230787 | TGFBR1 | c.739C>T (p.Leu247Phe) c.751C>T (p.Leu251Phe) c.520C>T (p.Leu174Phe) c.508C>T (p.Leu170Phe) c.*742C>T (n.*742C>T) c.946C>T (p.Leu316Phe) c.715C>T (p.Leu239Phe) c.958C>T (p.Leu320Phe) | |
| 9 | g.99142677T>A | CA374230788 | TGFBR1 | c.740T>A (p.Leu247His) c.752T>A (p.Leu251His) c.521T>A (p.Leu174His) c.509T>A (p.Leu170His) c.*743T>A (n.*743T>A) c.947T>A (p.Leu316His) c.716T>A (p.Leu239His) c.959T>A (p.Leu320His) | |
| 9 | g.99142677T>C | CA374230789 | TGFBR1 | c.740T>C (p.Leu247Pro) c.752T>C (p.Leu251Pro) c.521T>C (p.Leu174Pro) c.509T>C (p.Leu170Pro) c.*743T>C (n.*743T>C) c.947T>C (p.Leu316Pro) c.716T>C (p.Leu239Pro) c.959T>C (p.Leu320Pro) | |
| 9 | g.99142677T>G | CA374230790 | TGFBR1 | c.740T>G (p.Leu247Arg) c.752T>G (p.Leu251Arg) c.521T>G (p.Leu174Arg) c.509T>G (p.Leu170Arg) c.*743T>G (n.*743T>G) c.947T>G (p.Leu316Arg) c.716T>G (p.Leu239Arg) c.959T>G (p.Leu320Arg) | |
| 9 | g.99142677_99142678del | CA2690966007 | TGFBR1 | c.740_741del (p.Leu247ProfsTer16) c.752_753del (p.Leu251ProfsTer16) c.521_522del (p.Leu174ProfsTer16) c.509_510del (p.Leu170ProfsTer16) c.*743_*744del (n.*743_*744del) c.947_948del (p.Leu316ProfsTer16) c.716_717del (p.Leu239ProfsTer16) c.959_960del (p.Leu320ProfsTer16) | gnomAD v4 |
| 9 | g.99142678T>A | CA466434521 | TGFBR1 | c.741T>A (p.Leu247=) c.753T>A (p.Leu251=) c.522T>A (p.Leu174=) c.510T>A (p.Leu170=) c.*744T>A (n.*744T>A) c.948T>A (p.Leu316=) c.717T>A (p.Leu239=) c.960T>A (p.Leu320=) | |
| 9 | g.99142678T>C | CA466434522 | TGFBR1 | c.741T>C (p.Leu247=) c.753T>C (p.Leu251=) c.522T>C (p.Leu174=) c.510T>C (p.Leu170=) c.*744T>C (n.*744T>C) c.948T>C (p.Leu316=) c.717T>C (p.Leu239=) c.960T>C (p.Leu320=) | |
| 9 | g.99142678T>G | CA466434523 | TGFBR1 | c.741T>G (p.Leu247=) c.753T>G (p.Leu251=) c.522T>G (p.Leu174=) c.510T>G (p.Leu170=) c.*744T>G (n.*744T>G) c.948T>G (p.Leu316=) c.717T>G (p.Leu239=) c.960T>G (p.Leu320=) | |
| 9 | g.99142679C>A | CA374230791 | TGFBR1 | c.742C>A (p.His248Asn) c.754C>A (p.His252Asn) c.523C>A (p.His175Asn) c.511C>A (p.His171Asn) c.*745C>A (n.*745C>A) c.949C>A (p.His317Asn) c.718C>A (p.His240Asn) c.961C>A (p.His321Asn) | dbSNP |
| 9 | g.99142679C>G | CA374230792 | TGFBR1 | c.742C>G (p.His248Asp) c.754C>G (p.His252Asp) c.523C>G (p.His175Asp) c.511C>G (p.His171Asp) c.*745C>G (n.*745C>G) c.949C>G (p.His317Asp) c.718C>G (p.His240Asp) c.961C>G (p.His321Asp) | dbSNP |
| 9 | g.99142679C>T | CA374230793 | TGFBR1 | c.742C>T (p.His248Tyr) c.754C>T (p.His252Tyr) c.523C>T (p.His175Tyr) c.511C>T (p.His171Tyr) c.*745C>T (n.*745C>T) c.949C>T (p.His317Tyr) c.718C>T (p.His240Tyr) c.961C>T (p.His321Tyr) | ClinVar |
| 9 | g.99142680A>C | CA374230795 | TGFBR1 | c.743A>C (p.His248Pro) c.755A>C (p.His252Pro) c.524A>C (p.His175Pro) c.512A>C (p.His171Pro) c.*746A>C (n.*746A>C) c.950A>C (p.His317Pro) c.719A>C (p.His240Pro) c.962A>C (p.His321Pro) | |
| 9 | g.99142680A>G | CA374230796 | TGFBR1 | c.743A>G (p.His248Arg) c.755A>G (p.His252Arg) c.524A>G (p.His175Arg) c.512A>G (p.His171Arg) c.*746A>G (n.*746A>G) c.950A>G (p.His317Arg) c.719A>G (p.His240Arg) c.962A>G (p.His321Arg) | |
| 9 | g.99142680A>T | CA374230794 | TGFBR1 | c.743A>T (p.His248Leu) c.755A>T (p.His252Leu) c.524A>T (p.His175Leu) c.512A>T (p.His171Leu) c.*746A>T (n.*746A>T) c.950A>T (p.His317Leu) c.719A>T (p.His240Leu) c.962A>T (p.His321Leu) | |
| 9 | g.99142680_99142682del | CA2690966008 | TGFBR1 | c.743_745del (p.His248_Met249delinsLeu) c.755_757del (p.His252_Met253delinsLeu) c.524_526del (p.His175_Met176delinsLeu) c.512_514del (p.His171_Met172delinsLeu) c.*746_*748del (n.*746_*748del) c.950_952del (p.His317_Met318delinsLeu) c.719_721del (p.His240_Met241delinsLeu) c.962_964del (p.His321_Met322delinsLeu) | gnomAD v4 |
| 9 | g.99142681C>A | CA374230798 | TGFBR1 | c.744C>A (p.His248Gln) c.756C>A (p.His252Gln) c.525C>A (p.His175Gln) c.513C>A (p.His171Gln) c.*747C>A (n.*747C>A) c.951C>A (p.His317Gln) c.720C>A (p.His240Gln) c.963C>A (p.His321Gln) | |
| 9 | g.99142681C>G | CA374230797 | TGFBR1 | c.744C>G (p.His248Gln) c.756C>G (p.His252Gln) c.525C>G (p.His175Gln) c.513C>G (p.His171Gln) c.*747C>G (n.*747C>G) c.951C>G (p.His317Gln) c.720C>G (p.His240Gln) c.963C>G (p.His321Gln) | |
| 9 | g.99142681C>T | CA466434524 | TGFBR1 | c.744C>T (p.His248=) c.756C>T (p.His252=) c.525C>T (p.His175=) c.513C>T (p.His171=) c.*747C>T (n.*747C>T) c.951C>T (p.His317=) c.720C>T (p.His240=) c.963C>T (p.His321=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99142682A= | CA1867260213 | TGFBR1 | c.745A= (p.Met249=) c.757A= (p.Met253=) c.526A= (p.Met176=) c.514A= (p.Met172=) c.*748A= (n.*748A=) c.952A= (p.Met318=) c.721A= (p.Met241=) c.964A= (p.Met322=) | |
| 9 | g.99142682A>C | CA043482 | TGFBR1 | c.745A>C (p.Met249Leu) c.757A>C (p.Met253Leu) c.526A>C (p.Met176Leu) c.514A>C (p.Met172Leu) c.*748A>C (n.*748A>C) c.952A>C (p.Met318Leu) c.721A>C (p.Met241Leu) c.964A>C (p.Met322Leu) | dbSNP ExAC gnomAD v2 |
| 9 | g.99142682A>G | CA374230799 | TGFBR1 | c.745A>G (p.Met249Val) c.757A>G (p.Met253Val) c.526A>G (p.Met176Val) c.514A>G (p.Met172Val) c.*748A>G (n.*748A>G) c.952A>G (p.Met318Val) c.721A>G (p.Met241Val) c.964A>G (p.Met322Val) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99142682A>T | CA374230800 | TGFBR1 | c.745A>T (p.Met249Leu) c.757A>T (p.Met253Leu) c.526A>T (p.Met176Leu) c.514A>T (p.Met172Leu) c.*748A>T (n.*748A>T) c.952A>T (p.Met318Leu) c.721A>T (p.Met241Leu) c.964A>T (p.Met322Leu) | ClinVar dbSNP |
| 9 | g.99142683T>A | CA374230801 | TGFBR1 | c.746T>A (p.Met249Lys) c.758T>A (p.Met253Lys) c.527T>A (p.Met176Lys) c.515T>A (p.Met172Lys) c.*749T>A (n.*749T>A) c.953T>A (p.Met318Lys) c.722T>A (p.Met241Lys) c.965T>A (p.Met322Lys) | |
| 9 | g.99142683T>C | CA374230802 | TGFBR1 | c.746T>C (p.Met249Thr) c.758T>C (p.Met253Thr) c.527T>C (p.Met176Thr) c.515T>C (p.Met172Thr) c.*749T>C (n.*749T>C) c.953T>C (p.Met318Thr) c.722T>C (p.Met241Thr) c.965T>C (p.Met322Thr) | ClinVar |
| 9 | g.99142683T>G | CA008882 | TGFBR1 | c.746T>G (p.Met249Arg) c.758T>G (p.Met253Arg) c.527T>G (p.Met176Arg) c.515T>G (p.Met172Arg) c.*749T>G (n.*749T>G) c.953T>G (p.Met318Arg) c.722T>G (p.Met241Arg) c.965T>G (p.Met322Arg) | ClinVar dbSNP |
| 9 | g.99142683T= | CA1867260218 | TGFBR1 | c.746T= (p.Met249=) c.758T= (p.Met253=) c.527T= (p.Met176=) c.515T= (p.Met172=) c.*749T= (n.*749T=) c.953T= (p.Met318=) c.722T= (p.Met241=) c.965T= (p.Met322=) | |
| 9 | g.99142684G>A | CA374230803 | TGFBR1 | c.747G>A (p.Met249Ile) c.759G>A (p.Met253Ile) c.528G>A (p.Met176Ile) c.516G>A (p.Met172Ile) c.*750G>A (n.*750G>A) c.954G>A (p.Met318Ile) c.723G>A (p.Met241Ile) c.966G>A (p.Met322Ile) | |
| 9 | g.99142684G>C | CA374230805 | TGFBR1 | c.747G>C (p.Met249Ile) c.759G>C (p.Met253Ile) c.528G>C (p.Met176Ile) c.516G>C (p.Met172Ile) c.*750G>C (n.*750G>C) c.954G>C (p.Met318Ile) c.723G>C (p.Met241Ile) c.966G>C (p.Met322Ile) | |
| 9 | g.99142684G>T | CA374230804 | TGFBR1 | c.747G>T (p.Met249Ile) c.759G>T (p.Met253Ile) c.528G>T (p.Met176Ile) c.516G>T (p.Met172Ile) c.*750G>T (n.*750G>T) c.954G>T (p.Met318Ile) c.723G>T (p.Met241Ile) c.966G>T (p.Met322Ile) | |
| 9 | g.99142685G>A | CA374230806 | TGFBR1 | c.748G>A (p.Glu250Lys) c.760G>A (p.Glu254Lys) c.529G>A (p.Glu177Lys) c.517G>A (p.Glu173Lys) c.*751G>A (n.*751G>A) c.955G>A (p.Glu319Lys) c.724G>A (p.Glu242Lys) c.967G>A (p.Glu323Lys) | |
| 9 | g.99142685G>C | CA374230808 | TGFBR1 | c.748G>C (p.Glu250Gln) c.760G>C (p.Glu254Gln) c.529G>C (p.Glu177Gln) c.517G>C (p.Glu173Gln) c.*751G>C (n.*751G>C) c.955G>C (p.Glu319Gln) c.724G>C (p.Glu242Gln) c.967G>C (p.Glu323Gln) | dbSNP |
| 9 | g.99142685G>T | CA374230807 | TGFBR1 | c.748G>T (p.Glu250Ter) c.760G>T (p.Glu254Ter) c.529G>T (p.Glu177Ter) c.517G>T (p.Glu173Ter) c.*751G>T (n.*751G>T) c.955G>T (p.Glu319Ter) c.724G>T (p.Glu242Ter) c.967G>T (p.Glu323Ter) | |
| 9 | g.99142686A>C | CA374230809 | TGFBR1 | c.749A>C (p.Glu250Ala) c.761A>C (p.Glu254Ala) c.530A>C (p.Glu177Ala) c.518A>C (p.Glu173Ala) c.*752A>C (n.*752A>C) c.956A>C (p.Glu319Ala) c.725A>C (p.Glu242Ala) c.968A>C (p.Glu323Ala) | |
| 9 | g.99142686A>G | CA374230810 | TGFBR1 | c.749A>G (p.Glu250Gly) c.761A>G (p.Glu254Gly) c.530A>G (p.Glu177Gly) c.518A>G (p.Glu173Gly) c.*752A>G (n.*752A>G) c.956A>G (p.Glu319Gly) c.725A>G (p.Glu242Gly) c.968A>G (p.Glu323Gly) | |
| 9 | g.99142686A>T | CA374230811 | TGFBR1 | c.749A>T (p.Glu250Val) c.761A>T (p.Glu254Val) c.530A>T (p.Glu177Val) c.518A>T (p.Glu173Val) c.*752A>T (n.*752A>T) c.956A>T (p.Glu319Val) c.725A>T (p.Glu242Val) c.968A>T (p.Glu323Val) | |
| 9 | g.99142687G>A | CA466434525 | TGFBR1 | c.750G>A (p.Glu250=) c.762G>A (p.Glu254=) c.531G>A (p.Glu177=) c.519G>A (p.Glu173=) c.*753G>A (n.*753G>A) c.957G>A (p.Glu319=) c.726G>A (p.Glu242=) c.969G>A (p.Glu323=) | |
| 9 | g.99142687G>C | CA374230812 | TGFBR1 | c.750G>C (p.Glu250Asp) c.762G>C (p.Glu254Asp) c.531G>C (p.Glu177Asp) c.519G>C (p.Glu173Asp) c.*753G>C (n.*753G>C) c.957G>C (p.Glu319Asp) c.726G>C (p.Glu242Asp) c.969G>C (p.Glu323Asp) | |
| 9 | g.99142687G>T | CA374230813 | TGFBR1 | c.750G>T (p.Glu250Asp) c.762G>T (p.Glu254Asp) c.531G>T (p.Glu177Asp) c.519G>T (p.Glu173Asp) c.*753G>T (n.*753G>T) c.957G>T (p.Glu319Asp) c.726G>T (p.Glu242Asp) c.969G>T (p.Glu323Asp) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99142688A= | CA1867260222 | TGFBR1 | c.751A= (p.Ile251=) c.763A= (p.Ile255=) c.532A= (p.Ile178=) c.520A= (p.Ile174=) c.*754A= (n.*754A=) c.958A= (p.Ile320=) c.727A= (p.Ile243=) c.970A= (p.Ile324=) | |
| 9 | g.99142688A>C | CA043498 | TGFBR1 | c.751A>C (p.Ile251Leu) c.763A>C (p.Ile255Leu) c.532A>C (p.Ile178Leu) c.520A>C (p.Ile174Leu) c.*754A>C (n.*754A>C) c.958A>C (p.Ile320Leu) c.727A>C (p.Ile243Leu) c.970A>C (p.Ile324Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99142688A>G | CA374230814 | TGFBR1 | c.751A>G (p.Ile251Val) c.763A>G (p.Ile255Val) c.532A>G (p.Ile178Val) c.520A>G (p.Ile174Val) c.*754A>G (n.*754A>G) c.958A>G (p.Ile320Val) c.727A>G (p.Ile243Val) c.970A>G (p.Ile324Val) | |
| 9 | g.99142688A>T | CA374230815 | TGFBR1 | c.751A>T (p.Ile251Phe) c.763A>T (p.Ile255Phe) c.532A>T (p.Ile178Phe) c.520A>T (p.Ile174Phe) c.*754A>T (n.*754A>T) c.958A>T (p.Ile320Phe) c.727A>T (p.Ile243Phe) c.970A>T (p.Ile324Phe) | ClinVar dbSNP |
| 9 | g.99142689T>A | CA374230816 | TGFBR1 | c.752T>A (p.Ile251Asn) c.764T>A (p.Ile255Asn) c.533T>A (p.Ile178Asn) c.521T>A (p.Ile174Asn) c.*755T>A (n.*755T>A) c.959T>A (p.Ile320Asn) c.728T>A (p.Ile243Asn) c.971T>A (p.Ile324Asn) | ClinVar dbSNP |
| 9 | g.99142689T>C | CA374230817 | TGFBR1 | c.752T>C (p.Ile251Thr) c.764T>C (p.Ile255Thr) c.533T>C (p.Ile178Thr) c.521T>C (p.Ile174Thr) c.*755T>C (n.*755T>C) c.959T>C (p.Ile320Thr) c.728T>C (p.Ile243Thr) c.971T>C (p.Ile324Thr) | ClinVar dbSNP |
| 9 | g.99142689T>G | CA374230818 | TGFBR1 | c.752T>G (p.Ile251Ser) c.764T>G (p.Ile255Ser) c.533T>G (p.Ile178Ser) c.521T>G (p.Ile174Ser) c.*755T>G (n.*755T>G) c.959T>G (p.Ile320Ser) c.728T>G (p.Ile243Ser) c.971T>G (p.Ile324Ser) | |
| 9 | g.99142689T= | CA1867260226 | TGFBR1 | c.752T= (p.Ile251=) c.764T= (p.Ile255=) c.533T= (p.Ile178=) c.521T= (p.Ile174=) c.*755T= (n.*755T=) c.959T= (p.Ile320=) c.728T= (p.Ile243=) c.971T= (p.Ile324=) | |
| 9 | g.99142690T>A | CA466434526 | TGFBR1 | c.753T>A (p.Ile251=) c.765T>A (p.Ile255=) c.534T>A (p.Ile178=) c.522T>A (p.Ile174=) c.*756T>A (n.*756T>A) c.960T>A (p.Ile320=) c.729T>A (p.Ile243=) c.972T>A (p.Ile324=) | |
| 9 | g.99142690T>C | CA466434527 | TGFBR1 | c.753T>C (p.Ile251=) c.765T>C (p.Ile255=) c.534T>C (p.Ile178=) c.522T>C (p.Ile174=) c.*756T>C (n.*756T>C) c.960T>C (p.Ile320=) c.729T>C (p.Ile243=) c.972T>C (p.Ile324=) | |
| 9 | g.99142690T>G | CA374230819 | TGFBR1 | c.753T>G (p.Ile251Met) c.765T>G (p.Ile255Met) c.534T>G (p.Ile178Met) c.522T>G (p.Ile174Met) c.*756T>G (n.*756T>G) c.960T>G (p.Ile320Met) c.729T>G (p.Ile243Met) c.972T>G (p.Ile324Met) | |
| 9 | g.99142691G>A | CA374230820 | TGFBR1 | c.754G>A (p.Val252Ile) c.766G>A (p.Val256Ile) c.535G>A (p.Val179Ile) c.523G>A (p.Val175Ile) c.*757G>A (n.*757G>A) c.961G>A (p.Val321Ile) c.730G>A (p.Val244Ile) c.973G>A (p.Val325Ile) | dbSNP |
| 9 | g.99142691G>C | CA374230822 | TGFBR1 | c.754G>C (p.Val252Leu) c.766G>C (p.Val256Leu) c.535G>C (p.Val179Leu) c.523G>C (p.Val175Leu) c.*757G>C (n.*757G>C) c.961G>C (p.Val321Leu) c.730G>C (p.Val244Leu) c.973G>C (p.Val325Leu) | |
| 9 | g.99142691G= | CA1867260234 | TGFBR1 | c.754G= (p.Val252=) c.766G= (p.Val256=) c.535G= (p.Val179=) c.523G= (p.Val175=) c.*757G= (n.*757G=) c.961G= (p.Val321=) c.730G= (p.Val244=) c.973G= (p.Val325=) | |
| 9 | g.99142691G>T | CA374230821 | TGFBR1 | c.754G>T (p.Val252Phe) c.766G>T (p.Val256Phe) c.535G>T (p.Val179Phe) c.523G>T (p.Val175Phe) c.*757G>T (n.*757G>T) c.961G>T (p.Val321Phe) c.730G>T (p.Val244Phe) c.973G>T (p.Val325Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99142692T>A | CA374230823 | TGFBR1 | c.755T>A (p.Val252Asp) c.767T>A (p.Val256Asp) c.536T>A (p.Val179Asp) c.524T>A (p.Val175Asp) c.*758T>A (n.*758T>A) c.962T>A (p.Val321Asp) c.731T>A (p.Val244Asp) c.974T>A (p.Val325Asp) | |
| 9 | g.99142692T>C | CA374230824 | TGFBR1 | c.755T>C (p.Val252Ala) c.767T>C (p.Val256Ala) c.536T>C (p.Val179Ala) c.524T>C (p.Val175Ala) c.*758T>C (n.*758T>C) c.962T>C (p.Val321Ala) c.731T>C (p.Val244Ala) c.974T>C (p.Val325Ala) | |
| 9 | g.99142692T>G | CA374230825 | TGFBR1 | c.755T>G (p.Val252Gly) c.767T>G (p.Val256Gly) c.536T>G (p.Val179Gly) c.524T>G (p.Val175Gly) c.*758T>G (n.*758T>G) c.962T>G (p.Val321Gly) c.731T>G (p.Val244Gly) c.974T>G (p.Val325Gly) | ClinVar |
| 9 | g.99142693T>A | CA466434528 | TGFBR1 | c.756T>A (p.Val252=) c.768T>A (p.Val256=) c.537T>A (p.Val179=) c.525T>A (p.Val175=) c.*759T>A (n.*759T>A) c.963T>A (p.Val321=) c.732T>A (p.Val244=) c.975T>A (p.Val325=) | |
| 9 | g.99142693T>C | CA466434530 | TGFBR1 | c.756T>C (p.Val252=) c.768T>C (p.Val256=) c.537T>C (p.Val179=) c.525T>C (p.Val175=) c.*759T>C (n.*759T>C) c.963T>C (p.Val321=) c.732T>C (p.Val244=) c.975T>C (p.Val325=) | gnomAD v4 |
| 9 | g.99142693T>G | CA466434529 | TGFBR1 | c.756T>G (p.Val252=) c.768T>G (p.Val256=) c.537T>G (p.Val179=) c.525T>G (p.Val175=) c.*759T>G (n.*759T>G) c.963T>G (p.Val321=) c.732T>G (p.Val244=) c.975T>G (p.Val325=) | |
| 9 | g.99142694G>A | CA374230826 | TGFBR1 | c.757G>A (p.Gly253Ser) c.769G>A (p.Gly257Ser) c.538G>A (p.Gly180Ser) c.526G>A (p.Gly176Ser) c.*760G>A (n.*760G>A) c.964G>A (p.Gly322Ser) c.733G>A (p.Gly245Ser) c.976G>A (p.Gly326Ser) | |
| 9 | g.99142694G>C | CA374230827 | TGFBR1 | c.757G>C (p.Gly253Arg) c.769G>C (p.Gly257Arg) c.538G>C (p.Gly180Arg) c.526G>C (p.Gly176Arg) c.*760G>C (n.*760G>C) c.964G>C (p.Gly322Arg) c.733G>C (p.Gly245Arg) c.976G>C (p.Gly326Arg) | |
| 9 | g.99142694G>T | CA374230828 | TGFBR1 | c.757G>T (p.Gly253Cys) c.769G>T (p.Gly257Cys) c.538G>T (p.Gly180Cys) c.526G>T (p.Gly176Cys) c.*760G>T (n.*760G>T) c.964G>T (p.Gly322Cys) c.733G>T (p.Gly245Cys) c.976G>T (p.Gly326Cys) | |
| 9 | g.99142695G>A | CA322256 | TGFBR1 | c.758G>A (p.Gly253Asp) c.770G>A (p.Gly257Asp) c.539G>A (p.Gly180Asp) c.527G>A (p.Gly176Asp) c.*761G>A (n.*761G>A) c.965G>A (p.Gly322Asp) c.734G>A (p.Gly245Asp) c.977G>A (p.Gly326Asp) | ClinVar dbSNP COSMIC |
| 9 | g.99142695G>C | CA374230829 | TGFBR1 | c.758G>C (p.Gly253Ala) c.770G>C (p.Gly257Ala) c.539G>C (p.Gly180Ala) c.527G>C (p.Gly176Ala) c.*761G>C (n.*761G>C) c.965G>C (p.Gly322Ala) c.734G>C (p.Gly245Ala) c.977G>C (p.Gly326Ala) | |
| 9 | g.99142695G= | CA1867260239 | TGFBR1 | c.758G= (p.Gly253=) c.770G= (p.Gly257=) c.539G= (p.Gly180=) c.527G= (p.Gly176=) c.*761G= (n.*761G=) c.965G= (p.Gly322=) c.734G= (p.Gly245=) c.977G= (p.Gly326=) | |
| 9 | g.99142695G>T | CA374230831 | TGFBR1 | c.758G>T (p.Gly253Val) c.770G>T (p.Gly257Val) c.539G>T (p.Gly180Val) c.527G>T (p.Gly176Val) c.*761G>T (n.*761G>T) c.965G>T (p.Gly322Val) c.734G>T (p.Gly245Val) c.977G>T (p.Gly326Val) | |
| 9 | g.99142696T>A | CA466434531 | TGFBR1 | c.759T>A (p.Gly253=) c.771T>A (p.Gly257=) c.540T>A (p.Gly180=) c.528T>A (p.Gly176=) c.*762T>A (n.*762T>A) c.966T>A (p.Gly322=) c.735T>A (p.Gly245=) c.978T>A (p.Gly326=) | |
| 9 | g.99142696T>C | CA466434532 | TGFBR1 | c.759T>C (p.Gly253=) c.771T>C (p.Gly257=) c.540T>C (p.Gly180=) c.528T>C (p.Gly176=) c.*762T>C (n.*762T>C) c.966T>C (p.Gly322=) c.735T>C (p.Gly245=) c.978T>C (p.Gly326=) | |
| 9 | g.99142696T>G | CA466434533 | TGFBR1 | c.759T>G (p.Gly253=) c.771T>G (p.Gly257=) c.540T>G (p.Gly180=) c.528T>G (p.Gly176=) c.*762T>G (n.*762T>G) c.966T>G (p.Gly322=) c.735T>G (p.Gly245=) c.978T>G (p.Gly326=) | |
| 9 | g.99142696_99142697insTTTATACTTTTATGTACACATCCTTT | CA2560495551 | TGFBR1 | c.759_760insTTTATACTTTTATGTACACATCCTTT (p.Thr254PhefsTer21) c.771_772insTTTATACTTTTATGTACACATCCTTT (p.Thr258PhefsTer21) c.540_541insTTTATACTTTTATGTACACATCCTTT (p.Thr181PhefsTer21) c.528_529insTTTATACTTTTATGTACACATCCTTT (p.Thr177PhefsTer21) c.*762_*763insTTTATACTTTTATGTACACATCCTTT (n.*762_*763insTTTATACTTTTATGTACACATCCTTT) c.966_967insTTTATACTTTTATGTACACATCCTTT (p.Thr323PhefsTer21) c.735_736insTTTATACTTTTATGTACACATCCTTT (p.Thr246PhefsTer21) c.978_979insTTTATACTTTTATGTACACATCCTTT (p.Thr327PhefsTer21) | |
| 9 | g.99142697A>C | CA374230834 | TGFBR1 | c.760A>C (p.Thr254Pro) c.772A>C (p.Thr258Pro) c.541A>C (p.Thr181Pro) c.529A>C (p.Thr177Pro) c.*763A>C (n.*763A>C) c.967A>C (p.Thr323Pro) c.736A>C (p.Thr246Pro) c.979A>C (p.Thr327Pro) | |
| 9 | g.99142697A>G | CA374230836 | TGFBR1 | c.760A>G (p.Thr254Ala) c.772A>G (p.Thr258Ala) c.541A>G (p.Thr181Ala) c.529A>G (p.Thr177Ala) c.*763A>G (n.*763A>G) c.967A>G (p.Thr323Ala) c.736A>G (p.Thr246Ala) c.979A>G (p.Thr327Ala) | |
| 9 | g.99142697A>T | CA374230833 | TGFBR1 | c.760A>T (p.Thr254Ser) c.772A>T (p.Thr258Ser) c.541A>T (p.Thr181Ser) c.529A>T (p.Thr177Ser) c.*763A>T (n.*763A>T) c.967A>T (p.Thr323Ser) c.736A>T (p.Thr246Ser) c.979A>T (p.Thr327Ser) | |
| 9 | g.99142698C>A | CA374230838 | TGFBR1 | c.761C>A (p.Thr254Asn) c.773C>A (p.Thr258Asn) c.542C>A (p.Thr181Asn) c.530C>A (p.Thr177Asn) c.*764C>A (n.*764C>A) c.968C>A (p.Thr323Asn) c.737C>A (p.Thr246Asn) c.980C>A (p.Thr327Asn) | dbSNP |
| 9 | g.99142698C>G | CA374230839 | TGFBR1 | c.761C>G (p.Thr254Ser) c.773C>G (p.Thr258Ser) c.542C>G (p.Thr181Ser) c.530C>G (p.Thr177Ser) c.*764C>G (n.*764C>G) c.968C>G (p.Thr323Ser) c.737C>G (p.Thr246Ser) c.980C>G (p.Thr327Ser) | |
| 9 | g.99142698C>T | CA374230841 | TGFBR1 | c.761C>T (p.Thr254Ile) c.773C>T (p.Thr258Ile) c.542C>T (p.Thr181Ile) c.530C>T (p.Thr177Ile) c.*764C>T (n.*764C>T) c.968C>T (p.Thr323Ile) c.737C>T (p.Thr246Ile) c.980C>T (p.Thr327Ile) | dbSNP |
| 9 | g.99142699C>A | CA466434534 | TGFBR1 | c.762C>A (p.Thr254=) c.774C>A (p.Thr258=) c.543C>A (p.Thr181=) c.531C>A (p.Thr177=) c.*765C>A (n.*765C>A) c.969C>A (p.Thr323=) c.738C>A (p.Thr246=) c.981C>A (p.Thr327=) | gnomAD v4 |
| 9 | g.99142699C= | CA1867260242 | TGFBR1 | c.762C= (p.Thr254=) c.774C= (p.Thr258=) c.543C= (p.Thr181=) c.531C= (p.Thr177=) c.*765C= (n.*765C=) c.969C= (p.Thr323=) c.738C= (p.Thr246=) c.981C= (p.Thr327=) | |
| 9 | g.99142699C>G | CA466434536 | TGFBR1 | c.762C>G (p.Thr254=) c.774C>G (p.Thr258=) c.543C>G (p.Thr181=) c.531C>G (p.Thr177=) c.*765C>G (n.*765C>G) c.969C>G (p.Thr323=) c.738C>G (p.Thr246=) c.981C>G (p.Thr327=) | |
| 9 | g.99142699C>T | CA466434535 | TGFBR1 | c.762C>T (p.Thr254=) c.774C>T (p.Thr258=) c.543C>T (p.Thr181=) c.531C>T (p.Thr177=) c.*765C>T (n.*765C>T) c.969C>T (p.Thr323=) c.738C>T (p.Thr246=) c.981C>T (p.Thr327=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142700C>A | CA374230845 | TGFBR1 | c.763C>A (p.Gln255Lys) c.775C>A (p.Gln259Lys) c.544C>A (p.Gln182Lys) c.532C>A (p.Gln178Lys) c.*766C>A (n.*766C>A) c.970C>A (p.Gln324Lys) c.739C>A (p.Gln247Lys) c.982C>A (p.Gln328Lys) | |
| 9 | g.99142700C>G | CA374230846 | TGFBR1 | c.763C>G (p.Gln255Glu) c.775C>G (p.Gln259Glu) c.544C>G (p.Gln182Glu) c.532C>G (p.Gln178Glu) c.*766C>G (n.*766C>G) c.970C>G (p.Gln324Glu) c.739C>G (p.Gln247Glu) c.982C>G (p.Gln328Glu) | |
| 9 | g.99142700C>T | CA374230848 | TGFBR1 | c.763C>T (p.Gln255Ter) c.775C>T (p.Gln259Ter) c.544C>T (p.Gln182Ter) c.532C>T (p.Gln178Ter) c.*766C>T (n.*766C>T) c.970C>T (p.Gln324Ter) c.739C>T (p.Gln247Ter) c.982C>T (p.Gln328Ter) | |
| 9 | g.99142701A>C | CA374230849 | TGFBR1 | c.764A>C (p.Gln255Pro) c.776A>C (p.Gln259Pro) c.545A>C (p.Gln182Pro) c.533A>C (p.Gln178Pro) c.*767A>C (n.*767A>C) c.971A>C (p.Gln324Pro) c.740A>C (p.Gln247Pro) c.983A>C (p.Gln328Pro) | |
| 9 | g.99142701A>G | CA374230851 | TGFBR1 | c.764A>G (p.Gln255Arg) c.776A>G (p.Gln259Arg) c.545A>G (p.Gln182Arg) c.533A>G (p.Gln178Arg) c.*767A>G (n.*767A>G) c.971A>G (p.Gln324Arg) c.740A>G (p.Gln247Arg) c.983A>G (p.Gln328Arg) | COSMIC |
| 9 | g.99142701A>T | CA374230853 | TGFBR1 | c.764A>T (p.Gln255Leu) c.776A>T (p.Gln259Leu) c.545A>T (p.Gln182Leu) c.533A>T (p.Gln178Leu) c.*767A>T (n.*767A>T) c.971A>T (p.Gln324Leu) c.740A>T (p.Gln247Leu) c.983A>T (p.Gln328Leu) |