| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99144749_99144755delinsCATAGAG | CA1867261970 | TGFBR1 | c.784_790delinsCATAGAG (p.His262=) c.796_802delinsCATAGAG (p.His266=) c.565_571delinsCATAGAG (p.His189=) c.553_559delinsCATAGAG (p.His185=) c.*787_*793delinsCATAGAG (n.*787_*793delinsCATAGAG) c.991_997delinsCATAGAG (p.His331=) c.760_766delinsCATAGAG (p.His254=) c.1003_1009delinsCATAGAG (p.His335=) | |
| 9 | g.99144752_99144757del | CA008887 | TGFBR1 | c.787_792del (p.Arg263_Asp264del) c.799_804del (p.Arg267_Asp268del) c.568_573del (p.Arg190_Asp191del) c.556_561del (p.Arg186_Asp187del) c.*790_*795del (n.*790_*795del) c.994_999del (p.Arg332_Asp333del) c.763_768del (p.Arg255_Asp256del) c.1006_1011del (p.Arg336_Asp337del) | ClinVar dbSNP |
| 9 | g.99144752A>C | CA466434668 | TGFBR1 | c.787A>C (p.Arg263=) c.799A>C (p.Arg267=) c.568A>C (p.Arg190=) c.556A>C (p.Arg186=) c.*790A>C (n.*790A>C) c.994A>C (p.Arg332=) c.763A>C (p.Arg255=) c.1006A>C (p.Arg336=) | |
| 9 | g.99144752A>G | CA374231263 | TGFBR1 | c.787A>G (p.Arg263Gly) c.799A>G (p.Arg267Gly) c.568A>G (p.Arg190Gly) c.556A>G (p.Arg186Gly) c.*790A>G (n.*790A>G) c.994A>G (p.Arg332Gly) c.763A>G (p.Arg255Gly) c.1006A>G (p.Arg336Gly) | ClinVar dbSNP |
| 9 | g.99144752A>T | CA374231264 | TGFBR1 | c.787A>T (p.Arg263Ter) c.799A>T (p.Arg267Ter) c.568A>T (p.Arg190Ter) c.556A>T (p.Arg186Ter) c.*790A>T (n.*790A>T) c.994A>T (p.Arg332Ter) c.763A>T (p.Arg255Ter) c.1006A>T (p.Arg336Ter) | |
| 9 | g.99144753G>A | CA374231265 | TGFBR1 | c.788G>A (p.Arg263Lys) c.800G>A (p.Arg267Lys) c.569G>A (p.Arg190Lys) c.557G>A (p.Arg186Lys) c.*791G>A (n.*791G>A) c.995G>A (p.Arg332Lys) c.764G>A (p.Arg255Lys) c.1007G>A (p.Arg336Lys) | |
| 9 | g.99144753G>C | CA374231266 | TGFBR1 | c.788G>C (p.Arg263Thr) c.800G>C (p.Arg267Thr) c.569G>C (p.Arg190Thr) c.557G>C (p.Arg186Thr) c.*791G>C (n.*791G>C) c.995G>C (p.Arg332Thr) c.764G>C (p.Arg255Thr) c.1007G>C (p.Arg336Thr) | |
| 9 | g.99144753G>T | CA374231267 | TGFBR1 | c.788G>T (p.Arg263Ile) c.800G>T (p.Arg267Ile) c.569G>T (p.Arg190Ile) c.557G>T (p.Arg186Ile) c.*791G>T (n.*791G>T) c.995G>T (p.Arg332Ile) c.764G>T (p.Arg255Ile) c.1007G>T (p.Arg336Ile) | |
| 9 | g.99144754A= | CA1867261985 | TGFBR1 | c.789A= (p.Arg263=) c.801A= (p.Arg267=) c.570A= (p.Arg190=) c.558A= (p.Arg186=) c.*792A= (n.*792A=) c.996A= (p.Arg332=) c.765A= (p.Arg255=) c.1008A= (p.Arg336=) | |
| 9 | g.99144754A>C | CA374231269 | TGFBR1 | c.789A>C (p.Arg263Ser) c.801A>C (p.Arg267Ser) c.570A>C (p.Arg190Ser) c.558A>C (p.Arg186Ser) c.*792A>C (n.*792A>C) c.996A>C (p.Arg332Ser) c.765A>C (p.Arg255Ser) c.1008A>C (p.Arg336Ser) | |
| 9 | g.99144754A>G | CA466434670 | TGFBR1 | c.789A>G (p.Arg263=) c.801A>G (p.Arg267=) c.570A>G (p.Arg190=) c.558A>G (p.Arg186=) c.*792A>G (n.*792A>G) c.996A>G (p.Arg332=) c.765A>G (p.Arg255=) c.1008A>G (p.Arg336=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99144754A>T | CA374231271 | TGFBR1 | c.789A>T (p.Arg263Ser) c.801A>T (p.Arg267Ser) c.570A>T (p.Arg190Ser) c.558A>T (p.Arg186Ser) c.*792A>T (n.*792A>T) c.996A>T (p.Arg332Ser) c.765A>T (p.Arg255Ser) c.1008A>T (p.Arg336Ser) | |
| 9 | g.99144755G>A | CA374231273 | TGFBR1 | c.790G>A (p.Asp264Asn) c.802G>A (p.Asp268Asn) c.571G>A (p.Asp191Asn) c.559G>A (p.Asp187Asn) c.*793G>A (n.*793G>A) c.997G>A (p.Asp333Asn) c.766G>A (p.Asp256Asn) c.1009G>A (p.Asp337Asn) | dbSNP COSMIC |
| 9 | g.99144755G>C | CA374231274 | TGFBR1 | c.790G>C (p.Asp264His) c.802G>C (p.Asp268His) c.571G>C (p.Asp191His) c.559G>C (p.Asp187His) c.*793G>C (n.*793G>C) c.997G>C (p.Asp333His) c.766G>C (p.Asp256His) c.1009G>C (p.Asp337His) | COSMIC |
| 9 | g.99144755G= | CA1867261989 | TGFBR1 | c.790G= (p.Asp264=) c.802G= (p.Asp268=) c.571G= (p.Asp191=) c.559G= (p.Asp187=) c.*793G= (n.*793G=) c.997G= (p.Asp333=) c.766G= (p.Asp256=) c.1009G= (p.Asp337=) | |
| 9 | g.99144755G>T | CA374231276 | TGFBR1 | c.790G>T (p.Asp264Tyr) c.802G>T (p.Asp268Tyr) c.571G>T (p.Asp191Tyr) c.559G>T (p.Asp187Tyr) c.*793G>T (n.*793G>T) c.997G>T (p.Asp333Tyr) c.766G>T (p.Asp256Tyr) c.1009G>T (p.Asp337Tyr) | |
| 9 | g.99144755_99144756insT | CA869140432 | TGFBR1 | c.790_791insT (p.Asp264ValfsTer27) c.802_803insT (p.Asp268ValfsTer27) c.571_572insT (p.Asp191ValfsTer27) c.559_560insT (p.Asp187ValfsTer27) c.*793_*794insT (n.*793_*794insT) c.997_998insT (p.Asp333ValfsTer27) c.766_767insT (p.Asp256ValfsTer27) c.1009_1010insT (p.Asp337ValfsTer27) | dbSNP |
| 9 | g.99144756A>C | CA374231277 | TGFBR1 | c.791A>C (p.Asp264Ala) c.803A>C (p.Asp268Ala) c.572A>C (p.Asp191Ala) c.560A>C (p.Asp187Ala) c.*794A>C (n.*794A>C) c.998A>C (p.Asp333Ala) c.767A>C (p.Asp256Ala) c.1010A>C (p.Asp337Ala) | |
| 9 | g.99144756A>G | CA374231279 | TGFBR1 | c.791A>G (p.Asp264Gly) c.803A>G (p.Asp268Gly) c.572A>G (p.Asp191Gly) c.560A>G (p.Asp187Gly) c.*794A>G (n.*794A>G) c.998A>G (p.Asp333Gly) c.767A>G (p.Asp256Gly) c.1010A>G (p.Asp337Gly) | |
| 9 | g.99144756A>T | CA374231280 | TGFBR1 | c.791A>T (p.Asp264Val) c.803A>T (p.Asp268Val) c.572A>T (p.Asp191Val) c.560A>T (p.Asp187Val) c.*794A>T (n.*794A>T) c.998A>T (p.Asp333Val) c.767A>T (p.Asp256Val) c.1010A>T (p.Asp337Val) | COSMIC |
| 9 | g.99144757T>A | CA374231281 | TGFBR1 | c.792T>A (p.Asp264Glu) c.804T>A (p.Asp268Glu) c.573T>A (p.Asp191Glu) c.561T>A (p.Asp187Glu) c.*795T>A (n.*795T>A) c.999T>A (p.Asp333Glu) c.768T>A (p.Asp256Glu) c.1011T>A (p.Asp337Glu) | |
| 9 | g.99144757T>C | CA466434671 | TGFBR1 | c.792T>C (p.Asp264=) c.804T>C (p.Asp268=) c.573T>C (p.Asp191=) c.561T>C (p.Asp187=) c.*795T>C (n.*795T>C) c.999T>C (p.Asp333=) c.768T>C (p.Asp256=) c.1011T>C (p.Asp337=) | |
| 9 | g.99144757T>G | CA374231283 | TGFBR1 | c.792T>G (p.Asp264Glu) c.804T>G (p.Asp268Glu) c.573T>G (p.Asp191Glu) c.561T>G (p.Asp187Glu) c.*795T>G (n.*795T>G) c.999T>G (p.Asp333Glu) c.768T>G (p.Asp256Glu) c.1011T>G (p.Asp337Glu) | |
| 9 | g.99144758T>A | CA374231284 | TGFBR1 | c.793T>A (p.Leu265Met) c.805T>A (p.Leu269Met) c.574T>A (p.Leu192Met) c.562T>A (p.Leu188Met) c.*796T>A (n.*796T>A) c.1000T>A (p.Leu334Met) c.769T>A (p.Leu257Met) c.1012T>A (p.Leu338Met) | |
| 9 | g.99144758T>C | CA466434672 | TGFBR1 | c.793T>C (p.Leu265=) c.805T>C (p.Leu269=) c.574T>C (p.Leu192=) c.562T>C (p.Leu188=) c.*796T>C (n.*796T>C) c.1000T>C (p.Leu334=) c.769T>C (p.Leu257=) c.1012T>C (p.Leu338=) | |
| 9 | g.99144758T>G | CA374231286 | TGFBR1 | c.793T>G (p.Leu265Val) c.805T>G (p.Leu269Val) c.574T>G (p.Leu192Val) c.562T>G (p.Leu188Val) c.*796T>G (n.*796T>G) c.1000T>G (p.Leu334Val) c.769T>G (p.Leu257Val) c.1012T>G (p.Leu338Val) | ClinVar gnomAD v4 |
| 9 | g.99144759T>A | CA374231287 | TGFBR1 | c.794T>A (p.Leu265Ter) c.806T>A (p.Leu269Ter) c.575T>A (p.Leu192Ter) c.563T>A (p.Leu188Ter) c.*797T>A (n.*797T>A) c.1001T>A (p.Leu334Ter) c.770T>A (p.Leu257Ter) c.1013T>A (p.Leu338Ter) | |
| 9 | g.99144759T>C | CA374231289 | TGFBR1 | c.794T>C (p.Leu265Ser) c.806T>C (p.Leu269Ser) c.575T>C (p.Leu192Ser) c.563T>C (p.Leu188Ser) c.*797T>C (n.*797T>C) c.1001T>C (p.Leu334Ser) c.770T>C (p.Leu257Ser) c.1013T>C (p.Leu338Ser) | |
| 9 | g.99144759T>G | CA374231288 | TGFBR1 | c.794T>G (p.Leu265Trp) c.806T>G (p.Leu269Trp) c.575T>G (p.Leu192Trp) c.563T>G (p.Leu188Trp) c.*797T>G (n.*797T>G) c.1001T>G (p.Leu334Trp) c.770T>G (p.Leu257Trp) c.1013T>G (p.Leu338Trp) | |
| 9 | g.99144760G>A | CA466434673 | TGFBR1 | c.795G>A (p.Leu265=) c.807G>A (p.Leu269=) c.576G>A (p.Leu192=) c.564G>A (p.Leu188=) c.*798G>A (n.*798G>A) c.1002G>A (p.Leu334=) c.771G>A (p.Leu257=) c.1014G>A (p.Leu338=) | ClinVar gnomAD v4 |
| 9 | g.99144760G>C | CA374231290 | TGFBR1 | c.795G>C (p.Leu265Phe) c.807G>C (p.Leu269Phe) c.576G>C (p.Leu192Phe) c.564G>C (p.Leu188Phe) c.*798G>C (n.*798G>C) c.1002G>C (p.Leu334Phe) c.771G>C (p.Leu257Phe) c.1014G>C (p.Leu338Phe) | |
| 9 | g.99144760G>T | CA374231292 | TGFBR1 | c.795G>T (p.Leu265Phe) c.807G>T (p.Leu269Phe) c.576G>T (p.Leu192Phe) c.564G>T (p.Leu188Phe) c.*798G>T (n.*798G>T) c.1002G>T (p.Leu334Phe) c.771G>T (p.Leu257Phe) c.1014G>T (p.Leu338Phe) | |
| 9 | g.99144761A>C | CA374231293 | TGFBR1 | c.796A>C (p.Lys266Gln) c.808A>C (p.Lys270Gln) c.577A>C (p.Lys193Gln) c.565A>C (p.Lys189Gln) c.*799A>C (n.*799A>C) c.1003A>C (p.Lys335Gln) c.772A>C (p.Lys258Gln) c.1015A>C (p.Lys339Gln) | |
| 9 | g.99144761A>G | CA374231294 | TGFBR1 | c.796A>G (p.Lys266Glu) c.808A>G (p.Lys270Glu) c.577A>G (p.Lys193Glu) c.565A>G (p.Lys189Glu) c.*799A>G (n.*799A>G) c.1003A>G (p.Lys335Glu) c.772A>G (p.Lys258Glu) c.1015A>G (p.Lys339Glu) | |
| 9 | g.99144761A>T | CA374231295 | TGFBR1 | c.796A>T (p.Lys266Ter) c.808A>T (p.Lys270Ter) c.577A>T (p.Lys193Ter) c.565A>T (p.Lys189Ter) c.*799A>T (n.*799A>T) c.1003A>T (p.Lys335Ter) c.772A>T (p.Lys258Ter) c.1015A>T (p.Lys339Ter) | |
| 9 | g.99144762A>C | CA374231296 | TGFBR1 | c.797A>C (p.Lys266Thr) c.809A>C (p.Lys270Thr) c.578A>C (p.Lys193Thr) c.566A>C (p.Lys189Thr) c.*800A>C (n.*800A>C) c.1004A>C (p.Lys335Thr) c.773A>C (p.Lys258Thr) c.1016A>C (p.Lys339Thr) | |
| 9 | g.99144762A>G | CA374231298 | TGFBR1 | c.797A>G (p.Lys266Arg) c.809A>G (p.Lys270Arg) c.578A>G (p.Lys193Arg) c.566A>G (p.Lys189Arg) c.*800A>G (n.*800A>G) c.1004A>G (p.Lys335Arg) c.773A>G (p.Lys258Arg) c.1016A>G (p.Lys339Arg) | |
| 9 | g.99144762A>T | CA374231300 | TGFBR1 | c.797A>T (p.Lys266Ile) c.809A>T (p.Lys270Ile) c.578A>T (p.Lys193Ile) c.566A>T (p.Lys189Ile) c.*800A>T (n.*800A>T) c.1004A>T (p.Lys335Ile) c.773A>T (p.Lys258Ile) c.1016A>T (p.Lys339Ile) | |
| 9 | g.99144765_99144772del | CA645563376 | TGFBR1 | c.800_807del (p.Ser267TyrfsTer21) c.812_819del (p.Ser271TyrfsTer21) c.581_588del (p.Ser194TyrfsTer21) c.569_576del (p.Ser190TyrfsTer21) c.*803_*810del (n.*803_*810del) c.1007_1014del (p.Ser336TyrfsTer21) c.776_783del (p.Ser259TyrfsTer21) c.1019_1026del (p.Ser340TyrfsTer21) | COSMIC |
| 9 | g.99144763A>C | CA374231302 | TGFBR1 | c.798A>C (p.Lys266Asn) c.810A>C (p.Lys270Asn) c.579A>C (p.Lys193Asn) c.567A>C (p.Lys189Asn) c.*801A>C (n.*801A>C) c.1005A>C (p.Lys335Asn) c.774A>C (p.Lys258Asn) c.1017A>C (p.Lys339Asn) | |
| 9 | g.99144763A>G | CA466434674 | TGFBR1 | c.798A>G (p.Lys266=) c.810A>G (p.Lys270=) c.579A>G (p.Lys193=) c.567A>G (p.Lys189=) c.*801A>G (n.*801A>G) c.1005A>G (p.Lys335=) c.774A>G (p.Lys258=) c.1017A>G (p.Lys339=) | |
| 9 | g.99144763A>T | CA374231303 | TGFBR1 | c.798A>T (p.Lys266Asn) c.810A>T (p.Lys270Asn) c.579A>T (p.Lys193Asn) c.567A>T (p.Lys189Asn) c.*801A>T (n.*801A>T) c.1005A>T (p.Lys335Asn) c.774A>T (p.Lys258Asn) c.1017A>T (p.Lys339Asn) | ClinVar dbSNP |
| 9 | g.99144764T>A | CA374231304 | TGFBR1 | c.799T>A (p.Ser267Thr) c.811T>A (p.Ser271Thr) c.580T>A (p.Ser194Thr) c.568T>A (p.Ser190Thr) c.*802T>A (n.*802T>A) c.1006T>A (p.Ser336Thr) c.775T>A (p.Ser259Thr) c.1018T>A (p.Ser340Thr) | |
| 9 | g.99144764T>C | CA374231306 | TGFBR1 | c.799T>C (p.Ser267Pro) c.811T>C (p.Ser271Pro) c.580T>C (p.Ser194Pro) c.568T>C (p.Ser190Pro) c.*802T>C (n.*802T>C) c.1006T>C (p.Ser336Pro) c.775T>C (p.Ser259Pro) c.1018T>C (p.Ser340Pro) | |
| 9 | g.99144764T>G | CA374231308 | TGFBR1 | c.799T>G (p.Ser267Ala) c.811T>G (p.Ser271Ala) c.580T>G (p.Ser194Ala) c.568T>G (p.Ser190Ala) c.*802T>G (n.*802T>G) c.1006T>G (p.Ser336Ala) c.775T>G (p.Ser259Ala) c.1018T>G (p.Ser340Ala) | |
| 9 | g.99144765C>A | CA374231312 | TGFBR1 | c.800C>A (p.Ser267Ter) c.812C>A (p.Ser271Ter) c.581C>A (p.Ser194Ter) c.569C>A (p.Ser190Ter) c.*803C>A (n.*803C>A) c.1007C>A (p.Ser336Ter) c.776C>A (p.Ser259Ter) c.1019C>A (p.Ser340Ter) | |
| 9 | g.99144765C>G | CA374231311 | TGFBR1 | c.800C>G (p.Ser267Ter) c.812C>G (p.Ser271Ter) c.581C>G (p.Ser194Ter) c.569C>G (p.Ser190Ter) c.*803C>G (n.*803C>G) c.1007C>G (p.Ser336Ter) c.776C>G (p.Ser259Ter) c.1019C>G (p.Ser340Ter) | |
| 9 | g.99144765C>T | CA374231310 | TGFBR1 | c.800C>T (p.Ser267Leu) c.812C>T (p.Ser271Leu) c.581C>T (p.Ser194Leu) c.569C>T (p.Ser190Leu) c.*803C>T (n.*803C>T) c.1007C>T (p.Ser336Leu) c.776C>T (p.Ser259Leu) c.1019C>T (p.Ser340Leu) | |
| 9 | g.99144766A= | CA1867261994 | TGFBR1 | c.801A= (p.Ser267=) c.813A= (p.Ser271=) c.582A= (p.Ser194=) c.570A= (p.Ser190=) c.*804A= (n.*804A=) c.1008A= (p.Ser336=) c.777A= (p.Ser259=) c.1020A= (p.Ser340=) | |
| 9 | g.99144766A>C | CA466434676 | TGFBR1 | c.801A>C (p.Ser267=) c.813A>C (p.Ser271=) c.582A>C (p.Ser194=) c.570A>C (p.Ser190=) c.*804A>C (n.*804A>C) c.1008A>C (p.Ser336=) c.777A>C (p.Ser259=) c.1020A>C (p.Ser340=) | |
| 9 | g.99144766A>G | CA043760 | TGFBR1 | c.801A>G (p.Ser267=) c.813A>G (p.Ser271=) c.582A>G (p.Ser194=) c.570A>G (p.Ser190=) c.*804A>G (n.*804A>G) c.1008A>G (p.Ser336=) c.777A>G (p.Ser259=) c.1020A>G (p.Ser340=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99144766A>T | CA466434675 | TGFBR1 | c.801A>T (p.Ser267=) c.813A>T (p.Ser271=) c.582A>T (p.Ser194=) c.570A>T (p.Ser190=) c.*804A>T (n.*804A>T) c.1008A>T (p.Ser336=) c.777A>T (p.Ser259=) c.1020A>T (p.Ser340=) | |
| 9 | g.99144767A= | CA1867262000 | TGFBR1 | c.802A= (p.Lys268=) c.814A= (p.Lys272=) c.583A= (p.Lys195=) c.571A= (p.Lys191=) c.*805A= (n.*805A=) c.1009A= (p.Lys337=) c.778A= (p.Lys260=) c.1021A= (p.Lys341=) | |
| 9 | g.99144767A>C | CA374231315 | TGFBR1 | c.802A>C (p.Lys268Gln) c.814A>C (p.Lys272Gln) c.583A>C (p.Lys195Gln) c.571A>C (p.Lys191Gln) c.*805A>C (n.*805A>C) c.1009A>C (p.Lys337Gln) c.778A>C (p.Lys260Gln) c.1021A>C (p.Lys341Gln) | |
| 9 | g.99144767A>G | CA196892993 | TGFBR1 | c.802A>G (p.Lys268Glu) c.814A>G (p.Lys272Glu) c.583A>G (p.Lys195Glu) c.571A>G (p.Lys191Glu) c.*805A>G (n.*805A>G) c.1009A>G (p.Lys337Glu) c.778A>G (p.Lys260Glu) c.1021A>G (p.Lys341Glu) | ClinVar dbSNP |
| 9 | g.99144767A>T | CA374231317 | TGFBR1 | c.802A>T (p.Lys268Ter) c.814A>T (p.Lys272Ter) c.583A>T (p.Lys195Ter) c.571A>T (p.Lys191Ter) c.*805A>T (n.*805A>T) c.1009A>T (p.Lys337Ter) c.778A>T (p.Lys260Ter) c.1021A>T (p.Lys341Ter) | |
| 9 | g.99144768A>C | CA374231318 | TGFBR1 | c.803A>C (p.Lys268Thr) c.815A>C (p.Lys272Thr) c.584A>C (p.Lys195Thr) c.572A>C (p.Lys191Thr) c.*806A>C (n.*806A>C) c.1010A>C (p.Lys337Thr) c.779A>C (p.Lys260Thr) c.1022A>C (p.Lys341Thr) | |
| 9 | g.99144768A>G | CA374231319 | TGFBR1 | c.803A>G (p.Lys268Arg) c.815A>G (p.Lys272Arg) c.584A>G (p.Lys195Arg) c.572A>G (p.Lys191Arg) c.*806A>G (n.*806A>G) c.1010A>G (p.Lys337Arg) c.779A>G (p.Lys260Arg) c.1022A>G (p.Lys341Arg) | |
| 9 | g.99144768A>T | CA374231320 | TGFBR1 | c.803A>T (p.Lys268Met) c.815A>T (p.Lys272Met) c.584A>T (p.Lys195Met) c.572A>T (p.Lys191Met) c.*806A>T (n.*806A>T) c.1010A>T (p.Lys337Met) c.779A>T (p.Lys260Met) c.1022A>T (p.Lys341Met) | |
| 9 | g.99144769G>A | CA466434677 | TGFBR1 | c.804G>A (p.Lys268=) c.816G>A (p.Lys272=) c.585G>A (p.Lys195=) c.573G>A (p.Lys191=) c.*807G>A (n.*807G>A) c.1011G>A (p.Lys337=) c.780G>A (p.Lys260=) c.1023G>A (p.Lys341=) | |
| 9 | g.99144769G>C | CA374231321 | TGFBR1 | c.804G>C (p.Lys268Asn) c.816G>C (p.Lys272Asn) c.585G>C (p.Lys195Asn) c.573G>C (p.Lys191Asn) c.*807G>C (n.*807G>C) c.1011G>C (p.Lys337Asn) c.780G>C (p.Lys260Asn) c.1023G>C (p.Lys341Asn) | |
| 9 | g.99144769G>T | CA374231322 | TGFBR1 | c.804G>T (p.Lys268Asn) c.816G>T (p.Lys272Asn) c.585G>T (p.Lys195Asn) c.573G>T (p.Lys191Asn) c.*807G>T (n.*807G>T) c.1011G>T (p.Lys337Asn) c.780G>T (p.Lys260Asn) c.1023G>T (p.Lys341Asn) | |
| 9 | g.99144770A>C | CA374231323 | TGFBR1 | c.805A>C (p.Asn269His) c.817A>C (p.Asn273His) c.586A>C (p.Asn196His) c.574A>C (p.Asn192His) c.*808A>C (n.*808A>C) c.1012A>C (p.Asn338His) c.781A>C (p.Asn261His) c.1024A>C (p.Asn342His) | dbSNP |
| 9 | g.99144770A>G | CA374231324 | TGFBR1 | c.805A>G (p.Asn269Asp) c.817A>G (p.Asn273Asp) c.586A>G (p.Asn196Asp) c.574A>G (p.Asn192Asp) c.*808A>G (n.*808A>G) c.1012A>G (p.Asn338Asp) c.781A>G (p.Asn261Asp) c.1024A>G (p.Asn342Asp) | |
| 9 | g.99144770A>T | CA374231325 | TGFBR1 | c.805A>T (p.Asn269Tyr) c.817A>T (p.Asn273Tyr) c.586A>T (p.Asn196Tyr) c.574A>T (p.Asn192Tyr) c.*808A>T (n.*808A>T) c.1012A>T (p.Asn338Tyr) c.781A>T (p.Asn261Tyr) c.1024A>T (p.Asn342Tyr) | |
| 9 | g.99144771A= | CA1867262005 | TGFBR1 | c.806A= (p.Asn269=) c.818A= (p.Asn273=) c.587A= (p.Asn196=) c.575A= (p.Asn192=) c.*809A= (n.*809A=) c.1013A= (p.Asn338=) c.782A= (p.Asn261=) c.1025A= (p.Asn342=) | |
| 9 | g.99144771A>C | CA320985 | TGFBR1 | c.806A>C (p.Asn269Thr) c.818A>C (p.Asn273Thr) c.587A>C (p.Asn196Thr) c.575A>C (p.Asn192Thr) c.*809A>C (n.*809A>C) c.1013A>C (p.Asn338Thr) c.782A>C (p.Asn261Thr) c.1025A>C (p.Asn342Thr) | ClinVar dbSNP |
| 9 | g.99144771A>G | CA374231329 | TGFBR1 | c.806A>G (p.Asn269Ser) c.818A>G (p.Asn273Ser) c.587A>G (p.Asn196Ser) c.575A>G (p.Asn192Ser) c.*809A>G (n.*809A>G) c.1013A>G (p.Asn338Ser) c.782A>G (p.Asn261Ser) c.1025A>G (p.Asn342Ser) | |
| 9 | g.99144771A>T | CA374231327 | TGFBR1 | c.806A>T (p.Asn269Ile) c.818A>T (p.Asn273Ile) c.587A>T (p.Asn196Ile) c.575A>T (p.Asn192Ile) c.*809A>T (n.*809A>T) c.1013A>T (p.Asn338Ile) c.782A>T (p.Asn261Ile) c.1025A>T (p.Asn342Ile) | |
| 9 | g.99144772T>A | CA374231330 | TGFBR1 | c.807T>A (p.Asn269Lys) c.819T>A (p.Asn273Lys) c.588T>A (p.Asn196Lys) c.576T>A (p.Asn192Lys) c.*810T>A (n.*810T>A) c.1014T>A (p.Asn338Lys) c.783T>A (p.Asn261Lys) c.1026T>A (p.Asn342Lys) | |
| 9 | g.99144772T>C | CA466434678 | TGFBR1 | c.807T>C (p.Asn269=) c.819T>C (p.Asn273=) c.588T>C (p.Asn196=) c.576T>C (p.Asn192=) c.*810T>C (n.*810T>C) c.1014T>C (p.Asn338=) c.783T>C (p.Asn261=) c.1026T>C (p.Asn342=) | |
| 9 | g.99144772T>G | CA374231331 | TGFBR1 | c.807T>G (p.Asn269Lys) c.819T>G (p.Asn273Lys) c.588T>G (p.Asn196Lys) c.576T>G (p.Asn192Lys) c.*810T>G (n.*810T>G) c.1014T>G (p.Asn338Lys) c.783T>G (p.Asn261Lys) c.1026T>G (p.Asn342Lys) | COSMIC |
| 9 | g.99144772_99144773insTTCAGCCCACATGACCT | CA2720310185 | TGFBR1 | c.807_808insTTCAGCCCACATGACCT (p.Ile270PhefsTer9) c.819_820insTTCAGCCCACATGACCT (p.Ile274PhefsTer9) c.588_589insTTCAGCCCACATGACCT (p.Ile197PhefsTer9) c.576_577insTTCAGCCCACATGACCT (p.Ile193PhefsTer9) c.*810_*811insTTCAGCCCACATGACCT (n.*810_*811insTTCAGCCCACATGACCT) c.1014_1015insTTCAGCCCACATGACCT (p.Ile339PhefsTer9) c.783_784insTTCAGCCCACATGACCT (p.Ile262PhefsTer9) c.1026_1027insTTCAGCCCACATGACCT (p.Ile343PhefsTer9) | dbSNP |
| 9 | g.99144773A>C | CA374231332 | TGFBR1 | c.808A>C (p.Ile270Leu) c.820A>C (p.Ile274Leu) c.589A>C (p.Ile197Leu) c.577A>C (p.Ile193Leu) c.*811A>C (n.*811A>C) c.1015A>C (p.Ile339Leu) c.784A>C (p.Ile262Leu) c.1027A>C (p.Ile343Leu) | |
| 9 | g.99144773A>G | CA374231334 | TGFBR1 | c.808A>G (p.Ile270Val) c.820A>G (p.Ile274Val) c.589A>G (p.Ile197Val) c.577A>G (p.Ile193Val) c.*811A>G (n.*811A>G) c.1015A>G (p.Ile339Val) c.784A>G (p.Ile262Val) c.1027A>G (p.Ile343Val) | |
| 9 | g.99144773A>T | CA374231335 | TGFBR1 | c.808A>T (p.Ile270Phe) c.820A>T (p.Ile274Phe) c.589A>T (p.Ile197Phe) c.577A>T (p.Ile193Phe) c.*811A>T (n.*811A>T) c.1015A>T (p.Ile339Phe) c.784A>T (p.Ile262Phe) c.1027A>T (p.Ile343Phe) | |
| 9 | g.99144774T>A | CA374231337 | TGFBR1 | c.809T>A (p.Ile270Asn) c.821T>A (p.Ile274Asn) c.590T>A (p.Ile197Asn) c.578T>A (p.Ile193Asn) c.*812T>A (n.*812T>A) c.1016T>A (p.Ile339Asn) c.785T>A (p.Ile262Asn) c.1028T>A (p.Ile343Asn) | |
| 9 | g.99144774T>C | CA374231339 | TGFBR1 | c.809T>C (p.Ile270Thr) c.821T>C (p.Ile274Thr) c.590T>C (p.Ile197Thr) c.578T>C (p.Ile193Thr) c.*812T>C (n.*812T>C) c.1016T>C (p.Ile339Thr) c.785T>C (p.Ile262Thr) c.1028T>C (p.Ile343Thr) | |
| 9 | g.99144774T>G | CA374231340 | TGFBR1 | c.809T>G (p.Ile270Ser) c.821T>G (p.Ile274Ser) c.590T>G (p.Ile197Ser) c.578T>G (p.Ile193Ser) c.*812T>G (n.*812T>G) c.1016T>G (p.Ile339Ser) c.785T>G (p.Ile262Ser) c.1028T>G (p.Ile343Ser) | |
| 9 | g.99144775C>A | CA466434679 | TGFBR1 | c.810C>A (p.Ile270=) c.822C>A (p.Ile274=) c.591C>A (p.Ile197=) c.579C>A (p.Ile193=) c.*813C>A (n.*813C>A) c.1017C>A (p.Ile339=) c.786C>A (p.Ile262=) c.1029C>A (p.Ile343=) | gnomAD v4 |
| 9 | g.99144775C= | CA1867262011 | TGFBR1 | c.810C= (p.Ile270=) c.822C= (p.Ile274=) c.591C= (p.Ile197=) c.579C= (p.Ile193=) c.*813C= (n.*813C=) c.1017C= (p.Ile339=) c.786C= (p.Ile262=) c.1029C= (p.Ile343=) | |
| 9 | g.99144775C>G | CA374231342 | TGFBR1 | c.810C>G (p.Ile270Met) c.822C>G (p.Ile274Met) c.591C>G (p.Ile197Met) c.579C>G (p.Ile193Met) c.*813C>G (n.*813C>G) c.1017C>G (p.Ile339Met) c.786C>G (p.Ile262Met) c.1029C>G (p.Ile343Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99144775C>T | CA466434680 | TGFBR1 | c.810C>T (p.Ile270=) c.822C>T (p.Ile274=) c.591C>T (p.Ile197=) c.579C>T (p.Ile193=) c.*813C>T (n.*813C>T) c.1017C>T (p.Ile339=) c.786C>T (p.Ile262=) c.1029C>T (p.Ile343=) | |
| 9 | g.99144776T>A | CA374231343 | TGFBR1 | c.811T>A (p.Leu271Met) c.823T>A (p.Leu275Met) c.592T>A (p.Leu198Met) c.580T>A (p.Leu194Met) c.*814T>A (n.*814T>A) c.1018T>A (p.Leu340Met) c.787T>A (p.Leu263Met) c.1030T>A (p.Leu344Met) | |
| 9 | g.99144776T>C | CA466434682 | TGFBR1 | c.811T>C (p.Leu271=) c.823T>C (p.Leu275=) c.592T>C (p.Leu198=) c.580T>C (p.Leu194=) c.*814T>C (n.*814T>C) c.1018T>C (p.Leu340=) c.787T>C (p.Leu263=) c.1030T>C (p.Leu344=) | |
| 9 | g.99144776T>G | CA374231345 | TGFBR1 | c.811T>G (p.Leu271Val) c.823T>G (p.Leu275Val) c.592T>G (p.Leu198Val) c.580T>G (p.Leu194Val) c.*814T>G (n.*814T>G) c.1018T>G (p.Leu340Val) c.787T>G (p.Leu263Val) c.1030T>G (p.Leu344Val) | |
| 9 | g.99144777dup | CA466434681 | TGFBR1 | c.812dup (p.Leu271PhefsTer20) c.824dup (p.Leu275PhefsTer20) c.593dup (p.Leu198PhefsTer20) c.581dup (p.Leu194PhefsTer20) c.*815dup (n.*815dup) c.1019dup (p.Leu340PhefsTer20) c.788dup (p.Leu263PhefsTer20) c.1031dup (p.Leu344PhefsTer20) | COSMIC COSMIC |
| 9 | g.99144777del | CA2825001659 | TGFBR1 | c.812del (p.Leu271TrpfsTer2) c.824del (p.Leu275TrpfsTer2) c.593del (p.Leu198TrpfsTer2) c.581del (p.Leu194TrpfsTer2) c.*815del (n.*815del) c.1019del (p.Leu340TrpfsTer2) c.788del (p.Leu263TrpfsTer2) c.1031del (p.Leu344TrpfsTer2) | ClinVar |
| 9 | g.99144777T>A | CA374231347 | TGFBR1 | c.812T>A (p.Leu271Ter) c.824T>A (p.Leu275Ter) c.593T>A (p.Leu198Ter) c.581T>A (p.Leu194Ter) c.*815T>A (n.*815T>A) c.1019T>A (p.Leu340Ter) c.788T>A (p.Leu263Ter) c.1031T>A (p.Leu344Ter) | |
| 9 | g.99144777T>C | CA374231348 | TGFBR1 | c.812T>C (p.Leu271Ser) c.824T>C (p.Leu275Ser) c.593T>C (p.Leu198Ser) c.581T>C (p.Leu194Ser) c.*815T>C (n.*815T>C) c.1019T>C (p.Leu340Ser) c.788T>C (p.Leu263Ser) c.1031T>C (p.Leu344Ser) | |
| 9 | g.99144777T>G | CA374231350 | TGFBR1 | c.812T>G (p.Leu271Trp) c.824T>G (p.Leu275Trp) c.593T>G (p.Leu198Trp) c.581T>G (p.Leu194Trp) c.*815T>G (n.*815T>G) c.1019T>G (p.Leu340Trp) c.788T>G (p.Leu263Trp) c.1031T>G (p.Leu344Trp) | |
| 9 | g.99144778G>A | CA466434683 | TGFBR1 | c.813G>A (p.Leu271=) c.825G>A (p.Leu275=) c.594G>A (p.Leu198=) c.582G>A (p.Leu194=) c.*816G>A (n.*816G>A) c.1020G>A (p.Leu340=) c.789G>A (p.Leu263=) c.1032G>A (p.Leu344=) | |
| 9 | g.99144778G>C | CA374231352 | TGFBR1 | c.813G>C (p.Leu271Phe) c.825G>C (p.Leu275Phe) c.594G>C (p.Leu198Phe) c.582G>C (p.Leu194Phe) c.*816G>C (n.*816G>C) c.1020G>C (p.Leu340Phe) c.789G>C (p.Leu263Phe) c.1032G>C (p.Leu344Phe) | |
| 9 | g.99144778G>T | CA374231353 | TGFBR1 | c.813G>T (p.Leu271Phe) c.825G>T (p.Leu275Phe) c.594G>T (p.Leu198Phe) c.582G>T (p.Leu194Phe) c.*816G>T (n.*816G>T) c.1020G>T (p.Leu340Phe) c.789G>T (p.Leu263Phe) c.1032G>T (p.Leu344Phe) | gnomAD v4 |
| 9 | g.99144779G>A | CA374231354 | TGFBR1 | c.814G>A (p.Val272Ile) c.826G>A (p.Val276Ile) c.595G>A (p.Val199Ile) c.583G>A (p.Val195Ile) c.*817G>A (n.*817G>A) c.1021G>A (p.Val341Ile) c.790G>A (p.Val264Ile) c.1033G>A (p.Val345Ile) | |
| 9 | g.99144779G>C | CA374231357 | TGFBR1 | c.814G>C (p.Val272Leu) c.826G>C (p.Val276Leu) c.595G>C (p.Val199Leu) c.583G>C (p.Val195Leu) c.*817G>C (n.*817G>C) c.1021G>C (p.Val341Leu) c.790G>C (p.Val264Leu) c.1033G>C (p.Val345Leu) | |
| 9 | g.99144779G>T | CA374231358 | TGFBR1 | c.814G>T (p.Val272Leu) c.826G>T (p.Val276Leu) c.595G>T (p.Val199Leu) c.583G>T (p.Val195Leu) c.*817G>T (n.*817G>T) c.1021G>T (p.Val341Leu) c.790G>T (p.Val264Leu) c.1033G>T (p.Val345Leu) | |
| 9 | g.99144780T>A | CA374231360 | TGFBR1 | c.815T>A (p.Val272Glu) c.827T>A (p.Val276Glu) c.596T>A (p.Val199Glu) c.584T>A (p.Val195Glu) c.*818T>A (n.*818T>A) c.1022T>A (p.Val341Glu) c.791T>A (p.Val264Glu) c.1034T>A (p.Val345Glu) | |
| 9 | g.99144780T>C | CA374231361 | TGFBR1 | c.815T>C (p.Val272Ala) c.827T>C (p.Val276Ala) c.596T>C (p.Val199Ala) c.584T>C (p.Val195Ala) c.*818T>C (n.*818T>C) c.1022T>C (p.Val341Ala) c.791T>C (p.Val264Ala) c.1034T>C (p.Val345Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99144780T>G | CA374231363 | TGFBR1 | c.815T>G (p.Val272Gly) c.827T>G (p.Val276Gly) c.596T>G (p.Val199Gly) c.584T>G (p.Val195Gly) c.*818T>G (n.*818T>G) c.1022T>G (p.Val341Gly) c.791T>G (p.Val264Gly) c.1034T>G (p.Val345Gly) | |
| 9 | g.99144780T= | CA1867262014 | TGFBR1 | c.815T= (p.Val272=) c.827T= (p.Val276=) c.596T= (p.Val199=) c.584T= (p.Val195=) c.*818T= (n.*818T=) c.1022T= (p.Val341=) c.791T= (p.Val264=) c.1034T= (p.Val345=) | |
| 9 | g.99144781A>C | CA466434686 | TGFBR1 | c.816A>C (p.Val272=) c.828A>C (p.Val276=) c.597A>C (p.Val199=) c.585A>C (p.Val195=) c.*819A>C (n.*819A>C) c.1023A>C (p.Val341=) c.792A>C (p.Val264=) c.1035A>C (p.Val345=) | |
| 9 | g.99144781A>G | CA466434685 | TGFBR1 | c.816A>G (p.Val272=) c.828A>G (p.Val276=) c.597A>G (p.Val199=) c.585A>G (p.Val195=) c.*819A>G (n.*819A>G) c.1023A>G (p.Val341=) c.792A>G (p.Val264=) c.1035A>G (p.Val345=) | |
| 9 | g.99144781A>T | CA466434684 | TGFBR1 | c.816A>T (p.Val272=) c.828A>T (p.Val276=) c.597A>T (p.Val199=) c.585A>T (p.Val195=) c.*819A>T (n.*819A>T) c.1023A>T (p.Val341=) c.792A>T (p.Val264=) c.1035A>T (p.Val345=) | |
| 9 | g.99144782A>C | CA374231365 | TGFBR1 | c.817A>C (p.Lys273Gln) c.829A>C (p.Lys277Gln) c.598A>C (p.Lys200Gln) c.586A>C (p.Lys196Gln) c.*820A>C (n.*820A>C) c.1024A>C (p.Lys342Gln) c.793A>C (p.Lys265Gln) c.1036A>C (p.Lys346Gln) | |
| 9 | g.99144782A>G | CA374231367 | TGFBR1 | c.817A>G (p.Lys273Glu) c.829A>G (p.Lys277Glu) c.598A>G (p.Lys200Glu) c.586A>G (p.Lys196Glu) c.*820A>G (n.*820A>G) c.1024A>G (p.Lys342Glu) c.793A>G (p.Lys265Glu) c.1036A>G (p.Lys346Glu) | |
| 9 | g.99144782A>T | CA374231368 | TGFBR1 | c.817A>T (p.Lys273Ter) c.829A>T (p.Lys277Ter) c.598A>T (p.Lys200Ter) c.586A>T (p.Lys196Ter) c.*820A>T (n.*820A>T) c.1024A>T (p.Lys342Ter) c.793A>T (p.Lys265Ter) c.1036A>T (p.Lys346Ter) | |
| 9 | g.99144787_99144789del | CA2580616264 | TGFBR1 | c.822_824del (p.Lys274del) c.834_836del (p.Lys278del) c.603_605del (p.Lys201del) c.591_593del (p.Lys197del) c.*825_*827del (n.*825_*827del) c.1029_1031del (p.Lys343del) c.798_800del (p.Lys266del) c.1041_1043del (p.Lys347del) | ClinVar gnomAD v4 |
| 9 | g.99144783A= | CA1867262019 | TGFBR1 | c.818A= (p.Lys273=) c.830A= (p.Lys277=) c.599A= (p.Lys200=) c.587A= (p.Lys196=) c.*821A= (n.*821A=) c.1025A= (p.Lys342=) c.794A= (p.Lys265=) c.1037A= (p.Lys346=) | |
| 9 | g.99144783A>C | CA374231370 | TGFBR1 | c.818A>C (p.Lys273Thr) c.830A>C (p.Lys277Thr) c.599A>C (p.Lys200Thr) c.587A>C (p.Lys196Thr) c.*821A>C (n.*821A>C) c.1025A>C (p.Lys342Thr) c.794A>C (p.Lys265Thr) c.1037A>C (p.Lys346Thr) | |
| 9 | g.99144783A>G | CA374231371 | TGFBR1 | c.818A>G (p.Lys273Arg) c.830A>G (p.Lys277Arg) c.599A>G (p.Lys200Arg) c.587A>G (p.Lys196Arg) c.*821A>G (n.*821A>G) c.1025A>G (p.Lys342Arg) c.794A>G (p.Lys265Arg) c.1037A>G (p.Lys346Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99144783A>T | CA374231372 | TGFBR1 | c.818A>T (p.Lys273Met) c.830A>T (p.Lys277Met) c.599A>T (p.Lys200Met) c.587A>T (p.Lys196Met) c.*821A>T (n.*821A>T) c.1025A>T (p.Lys342Met) c.794A>T (p.Lys265Met) c.1037A>T (p.Lys346Met) | |
| 9 | g.99144784G>A | CA466434687 | TGFBR1 | c.819G>A (p.Lys273=) c.831G>A (p.Lys277=) c.600G>A (p.Lys200=) c.588G>A (p.Lys196=) c.*822G>A (n.*822G>A) c.1026G>A (p.Lys342=) c.795G>A (p.Lys265=) c.1038G>A (p.Lys346=) | |
| 9 | g.99144784G>C | CA374231375 | TGFBR1 | c.819G>C (p.Lys273Asn) c.831G>C (p.Lys277Asn) c.600G>C (p.Lys200Asn) c.588G>C (p.Lys196Asn) c.*822G>C (n.*822G>C) c.1026G>C (p.Lys342Asn) c.795G>C (p.Lys265Asn) c.1038G>C (p.Lys346Asn) | dbSNP |
| 9 | g.99144784G>T | CA374231373 | TGFBR1 | c.819G>T (p.Lys273Asn) c.831G>T (p.Lys277Asn) c.600G>T (p.Lys200Asn) c.588G>T (p.Lys196Asn) c.*822G>T (n.*822G>T) c.1026G>T (p.Lys342Asn) c.795G>T (p.Lys265Asn) c.1038G>T (p.Lys346Asn) | |
| 9 | g.99144785A>C | CA374231376 | TGFBR1 | c.820A>C (p.Lys274Gln) c.832A>C (p.Lys278Gln) c.601A>C (p.Lys201Gln) c.589A>C (p.Lys197Gln) c.*823A>C (n.*823A>C) c.1027A>C (p.Lys343Gln) c.796A>C (p.Lys266Gln) c.1039A>C (p.Lys347Gln) | |
| 9 | g.99144785A>G | CA374231379 | TGFBR1 | c.820A>G (p.Lys274Glu) c.832A>G (p.Lys278Glu) c.601A>G (p.Lys201Glu) c.589A>G (p.Lys197Glu) c.*823A>G (n.*823A>G) c.1027A>G (p.Lys343Glu) c.796A>G (p.Lys266Glu) c.1039A>G (p.Lys347Glu) | |
| 9 | g.99144785A>T | CA374231377 | TGFBR1 | c.820A>T (p.Lys274Ter) c.832A>T (p.Lys278Ter) c.601A>T (p.Lys201Ter) c.589A>T (p.Lys197Ter) c.*823A>T (n.*823A>T) c.1027A>T (p.Lys343Ter) c.796A>T (p.Lys266Ter) c.1039A>T (p.Lys347Ter) | |
| 9 | g.99144786A>C | CA374231381 | TGFBR1 | c.821A>C (p.Lys274Thr) c.833A>C (p.Lys278Thr) c.602A>C (p.Lys201Thr) c.590A>C (p.Lys197Thr) c.*824A>C (n.*824A>C) c.1028A>C (p.Lys343Thr) c.797A>C (p.Lys266Thr) c.1040A>C (p.Lys347Thr) | |
| 9 | g.99144786A>G | CA374231382 | TGFBR1 | c.821A>G (p.Lys274Arg) c.833A>G (p.Lys278Arg) c.602A>G (p.Lys201Arg) c.590A>G (p.Lys197Arg) c.*824A>G (n.*824A>G) c.1028A>G (p.Lys343Arg) c.797A>G (p.Lys266Arg) c.1040A>G (p.Lys347Arg) | |
| 9 | g.99144786A>T | CA374231383 | TGFBR1 | c.821A>T (p.Lys274Met) c.833A>T (p.Lys278Met) c.602A>T (p.Lys201Met) c.590A>T (p.Lys197Met) c.*824A>T (n.*824A>T) c.1028A>T (p.Lys343Met) c.797A>T (p.Lys266Met) c.1040A>T (p.Lys347Met) | |
| 9 | g.99144787G>A | CA466434688 | TGFBR1 | c.822G>A (p.Lys274=) c.834G>A (p.Lys278=) c.603G>A (p.Lys201=) c.591G>A (p.Lys197=) c.*825G>A (n.*825G>A) c.1029G>A (p.Lys343=) c.798G>A (p.Lys266=) c.1041G>A (p.Lys347=) | gnomAD v4 COSMIC |
| 9 | g.99144787G>C | CA374231384 | TGFBR1 | c.822G>C (p.Lys274Asn) c.834G>C (p.Lys278Asn) c.603G>C (p.Lys201Asn) c.591G>C (p.Lys197Asn) c.*825G>C (n.*825G>C) c.1029G>C (p.Lys343Asn) c.798G>C (p.Lys266Asn) c.1041G>C (p.Lys347Asn) | |
| 9 | g.99144787G>T | CA374231385 | TGFBR1 | c.822G>T (p.Lys274Asn) c.834G>T (p.Lys278Asn) c.603G>T (p.Lys201Asn) c.591G>T (p.Lys197Asn) c.*825G>T (n.*825G>T) c.1029G>T (p.Lys343Asn) c.798G>T (p.Lys266Asn) c.1041G>T (p.Lys347Asn) | |
| 9 | g.99144788A>C | CA374231386 | TGFBR1 | c.823A>C (p.Asn275His) c.835A>C (p.Asn279His) c.604A>C (p.Asn202His) c.592A>C (p.Asn198His) c.*826A>C (n.*826A>C) c.1030A>C (p.Asn344His) c.799A>C (p.Asn267His) c.1042A>C (p.Asn348His) | |
| 9 | g.99144788A>G | CA374231387 | TGFBR1 | c.823A>G (p.Asn275Asp) c.835A>G (p.Asn279Asp) c.604A>G (p.Asn202Asp) c.592A>G (p.Asn198Asp) c.*826A>G (n.*826A>G) c.1030A>G (p.Asn344Asp) c.799A>G (p.Asn267Asp) c.1042A>G (p.Asn348Asp) | |
| 9 | g.99144788A>T | CA374231388 | TGFBR1 | c.823A>T (p.Asn275Tyr) c.835A>T (p.Asn279Tyr) c.604A>T (p.Asn202Tyr) c.592A>T (p.Asn198Tyr) c.*826A>T (n.*826A>T) c.1030A>T (p.Asn344Tyr) c.799A>T (p.Asn267Tyr) c.1042A>T (p.Asn348Tyr) | |
| 9 | g.99144789A= | CA1867262024 | TGFBR1 | c.824A= (p.Asn275=) c.836A= (p.Asn279=) c.605A= (p.Asn202=) c.593A= (p.Asn198=) c.*827A= (n.*827A=) c.1031A= (p.Asn344=) c.800A= (p.Asn267=) c.1043A= (p.Asn348=) | |
| 9 | g.99144789A>C | CA374231390 | TGFBR1 | c.824A>C (p.Asn275Thr) c.836A>C (p.Asn279Thr) c.605A>C (p.Asn202Thr) c.593A>C (p.Asn198Thr) c.*827A>C (n.*827A>C) c.1031A>C (p.Asn344Thr) c.800A>C (p.Asn267Thr) c.1043A>C (p.Asn348Thr) | |
| 9 | g.99144789A>G | CA374231391 | TGFBR1 | c.824A>G (p.Asn275Ser) c.836A>G (p.Asn279Ser) c.605A>G (p.Asn202Ser) c.593A>G (p.Asn198Ser) c.*827A>G (n.*827A>G) c.1031A>G (p.Asn344Ser) c.800A>G (p.Asn267Ser) c.1043A>G (p.Asn348Ser) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99144789A>T | CA374231392 | TGFBR1 | c.824A>T (p.Asn275Ile) c.836A>T (p.Asn279Ile) c.605A>T (p.Asn202Ile) c.593A>T (p.Asn198Ile) c.*827A>T (n.*827A>T) c.1031A>T (p.Asn344Ile) c.800A>T (p.Asn267Ile) c.1043A>T (p.Asn348Ile) | |
| 9 | g.99144790T>A | CA374231397 | TGFBR1 | c.825T>A (p.Asn275Lys) c.837T>A (p.Asn279Lys) c.606T>A (p.Asn202Lys) c.594T>A (p.Asn198Lys) c.*828T>A (n.*828T>A) c.1032T>A (p.Asn344Lys) c.801T>A (p.Asn267Lys) c.1044T>A (p.Asn348Lys) | |
| 9 | g.99144790T>C | CA008697 | TGFBR1 | c.825T>C (p.Asn275=) c.837T>C (p.Asn279=) c.606T>C (p.Asn202=) c.594T>C (p.Asn198=) c.*828T>C (n.*828T>C) c.1032T>C (p.Asn344=) c.801T>C (p.Asn267=) c.1044T>C (p.Asn348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99144790T>G | CA374231395 | TGFBR1 | c.825T>G (p.Asn275Lys) c.837T>G (p.Asn279Lys) c.606T>G (p.Asn202Lys) c.594T>G (p.Asn198Lys) c.*828T>G (n.*828T>G) c.1032T>G (p.Asn344Lys) c.801T>G (p.Asn267Lys) c.1044T>G (p.Asn348Lys) | |
| 9 | g.99144790T= | CA1867262030 | TGFBR1 | c.825T= (p.Asn275=) c.837T= (p.Asn279=) c.606T= (p.Asn202=) c.594T= (p.Asn198=) c.*828T= (n.*828T=) c.1032T= (p.Asn344=) c.801T= (p.Asn267=) c.1044T= (p.Asn348=) | |
| 9 | g.99144791G>A | CA374231398 | TGFBR1 | c.826G>A (p.Gly276Arg) c.838G>A (p.Gly280Arg) c.607G>A (p.Gly203Arg) c.595G>A (p.Gly199Arg) c.*829G>A (n.*829G>A) c.1033G>A (p.Gly345Arg) c.802G>A (p.Gly268Arg) c.1045G>A (p.Gly349Arg) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99144791G>C | CA374231401 | TGFBR1 | c.826G>C (p.Gly276Arg) c.838G>C (p.Gly280Arg) c.607G>C (p.Gly203Arg) c.595G>C (p.Gly199Arg) c.*829G>C (n.*829G>C) c.1033G>C (p.Gly345Arg) c.802G>C (p.Gly268Arg) c.1045G>C (p.Gly349Arg) | |
| 9 | g.99144791G= | CA1867262033 | TGFBR1 | c.826G= (p.Gly276=) c.838G= (p.Gly280=) c.607G= (p.Gly203=) c.595G= (p.Gly199=) c.*829G= (n.*829G=) c.1033G= (p.Gly345=) c.802G= (p.Gly268=) c.1045G= (p.Gly349=) | |
| 9 | g.99144791G>T | CA374231402 | TGFBR1 | c.826G>T (p.Gly276Ter) c.838G>T (p.Gly280Ter) c.607G>T (p.Gly203Ter) c.595G>T (p.Gly199Ter) c.*829G>T (n.*829G>T) c.1033G>T (p.Gly345Ter) c.802G>T (p.Gly268Ter) c.1045G>T (p.Gly349Ter) | COSMIC |
| 9 | g.99144792G>A | CA374231404 | TGFBR1 | c.827G>A (p.Gly276Glu) c.839G>A (p.Gly280Glu) c.608G>A (p.Gly203Glu) c.596G>A (p.Gly199Glu) c.*830G>A (n.*830G>A) c.1034G>A (p.Gly345Glu) c.803G>A (p.Gly268Glu) c.1046G>A (p.Gly349Glu) | dbSNP |
| 9 | g.99144792G>C | CA374231405 | TGFBR1 | c.827G>C (p.Gly276Ala) c.839G>C (p.Gly280Ala) c.608G>C (p.Gly203Ala) c.596G>C (p.Gly199Ala) c.*830G>C (n.*830G>C) c.1034G>C (p.Gly345Ala) c.803G>C (p.Gly268Ala) c.1046G>C (p.Gly349Ala) | |
| 9 | g.99144792G>T | CA374231407 | TGFBR1 | c.827G>T (p.Gly276Val) c.839G>T (p.Gly280Val) c.608G>T (p.Gly203Val) c.596G>T (p.Gly199Val) c.*830G>T (n.*830G>T) c.1034G>T (p.Gly345Val) c.803G>T (p.Gly268Val) c.1046G>T (p.Gly349Val) | |
| 9 | g.99144793A>C | CA466434689 | TGFBR1 | c.828A>C (p.Gly276=) c.840A>C (p.Gly280=) c.609A>C (p.Gly203=) c.597A>C (p.Gly199=) c.*831A>C (n.*831A>C) c.1035A>C (p.Gly345=) c.804A>C (p.Gly268=) c.1047A>C (p.Gly349=) | |
| 9 | g.99144793A>G | CA466434690 | TGFBR1 | c.828A>G (p.Gly276=) c.840A>G (p.Gly280=) c.609A>G (p.Gly203=) c.597A>G (p.Gly199=) c.*831A>G (n.*831A>G) c.1035A>G (p.Gly345=) c.804A>G (p.Gly268=) c.1047A>G (p.Gly349=) | |
| 9 | g.99144793A>T | CA466434691 | TGFBR1 | c.828A>T (p.Gly276=) c.840A>T (p.Gly280=) c.609A>T (p.Gly203=) c.597A>T (p.Gly199=) c.*831A>T (n.*831A>T) c.1035A>T (p.Gly345=) c.804A>T (p.Gly268=) c.1047A>T (p.Gly349=) | |
| 9 | g.99144794A= | CA1867262038 | TGFBR1 | c.829A= (p.Thr277=) c.841A= (p.Thr281=) c.610A= (p.Thr204=) c.598A= (p.Thr200=) c.*832A= (n.*832A=) c.1036A= (p.Thr346=) c.805A= (p.Thr269=) c.1048A= (p.Thr350=) | |
| 9 | g.99144794A>C | CA374231409 | TGFBR1 | c.829A>C (p.Thr277Pro) c.841A>C (p.Thr281Pro) c.610A>C (p.Thr204Pro) c.598A>C (p.Thr200Pro) c.*832A>C (n.*832A>C) c.1036A>C (p.Thr346Pro) c.805A>C (p.Thr269Pro) c.1048A>C (p.Thr350Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99144794A>G | CA374231410 | TGFBR1 | c.829A>G (p.Thr277Ala) c.841A>G (p.Thr281Ala) c.610A>G (p.Thr204Ala) c.598A>G (p.Thr200Ala) c.*832A>G (n.*832A>G) c.1036A>G (p.Thr346Ala) c.805A>G (p.Thr269Ala) c.1048A>G (p.Thr350Ala) | |
| 9 | g.99144794A>T | CA374231412 | TGFBR1 | c.829A>T (p.Thr277Ser) c.841A>T (p.Thr281Ser) c.610A>T (p.Thr204Ser) c.598A>T (p.Thr200Ser) c.*832A>T (n.*832A>T) c.1036A>T (p.Thr346Ser) c.805A>T (p.Thr269Ser) c.1048A>T (p.Thr350Ser) | dbSNP |
| 9 | g.99144795C>A | CA374231413 | TGFBR1 | c.830C>A (p.Thr277Asn) c.842C>A (p.Thr281Asn) c.611C>A (p.Thr204Asn) c.599C>A (p.Thr200Asn) c.*833C>A (n.*833C>A) c.1037C>A (p.Thr346Asn) c.806C>A (p.Thr269Asn) c.1049C>A (p.Thr350Asn) | gnomAD v4 |
| 9 | g.99144795C>G | CA374231415 | TGFBR1 | c.830C>G (p.Thr277Ser) c.842C>G (p.Thr281Ser) c.611C>G (p.Thr204Ser) c.599C>G (p.Thr200Ser) c.*833C>G (n.*833C>G) c.1037C>G (p.Thr346Ser) c.806C>G (p.Thr269Ser) c.1049C>G (p.Thr350Ser) | |
| 9 | g.99144795C>T | CA374231417 | TGFBR1 | c.830C>T (p.Thr277Ile) c.842C>T (p.Thr281Ile) c.611C>T (p.Thr204Ile) c.599C>T (p.Thr200Ile) c.*833C>T (n.*833C>T) c.1037C>T (p.Thr346Ile) c.806C>T (p.Thr269Ile) c.1049C>T (p.Thr350Ile) | dbSNP |
| 9 | g.99144796T>A | CA466434692 | TGFBR1 | c.831T>A (p.Thr277=) c.843T>A (p.Thr281=) c.612T>A (p.Thr204=) c.600T>A (p.Thr200=) c.*834T>A (n.*834T>A) c.1038T>A (p.Thr346=) c.807T>A (p.Thr269=) c.1050T>A (p.Thr350=) | |
| 9 | g.99144796T>C | CA466434693 | TGFBR1 | c.831T>C (p.Thr277=) c.843T>C (p.Thr281=) c.612T>C (p.Thr204=) c.600T>C (p.Thr200=) c.*834T>C (n.*834T>C) c.1038T>C (p.Thr346=) c.807T>C (p.Thr269=) c.1050T>C (p.Thr350=) | |
| 9 | g.99144796T>G | CA466434694 | TGFBR1 | c.831T>G (p.Thr277=) c.843T>G (p.Thr281=) c.612T>G (p.Thr204=) c.600T>G (p.Thr200=) c.*834T>G (n.*834T>G) c.1038T>G (p.Thr346=) c.807T>G (p.Thr269=) c.1050T>G (p.Thr350=) | ClinVar dbSNP |
| 9 | g.99144797T>A | CA374231420 | TGFBR1 | c.832T>A (p.Cys278Ser) c.844T>A (p.Cys282Ser) c.613T>A (p.Cys205Ser) c.601T>A (p.Cys201Ser) c.*835T>A (n.*835T>A) c.1039T>A (p.Cys347Ser) c.808T>A (p.Cys270Ser) c.1051T>A (p.Cys351Ser) | |
| 9 | g.99144797T>C | CA374231419 | TGFBR1 | c.832T>C (p.Cys278Arg) c.844T>C (p.Cys282Arg) c.613T>C (p.Cys205Arg) c.601T>C (p.Cys201Arg) c.*835T>C (n.*835T>C) c.1039T>C (p.Cys347Arg) c.808T>C (p.Cys270Arg) c.1051T>C (p.Cys351Arg) | |
| 9 | g.99144797T>G | CA374231418 | TGFBR1 | c.832T>G (p.Cys278Gly) c.844T>G (p.Cys282Gly) c.613T>G (p.Cys205Gly) c.601T>G (p.Cys201Gly) c.*835T>G (n.*835T>G) c.1039T>G (p.Cys347Gly) c.808T>G (p.Cys270Gly) c.1051T>G (p.Cys351Gly) | |
| 9 | g.99144798G>A | CA196893001 | TGFBR1 | c.833G>A (p.Cys278Tyr) c.845G>A (p.Cys282Tyr) c.614G>A (p.Cys205Tyr) c.602G>A (p.Cys201Tyr) c.*836G>A (n.*836G>A) c.1040G>A (p.Cys347Tyr) c.809G>A (p.Cys270Tyr) c.1052G>A (p.Cys351Tyr) | dbSNP |
| 9 | g.99144798G>C | CA043804 | TGFBR1 | c.833G>C (p.Cys278Ser) c.845G>C (p.Cys282Ser) c.614G>C (p.Cys205Ser) c.602G>C (p.Cys201Ser) c.*836G>C (n.*836G>C) c.1040G>C (p.Cys347Ser) c.809G>C (p.Cys270Ser) c.1052G>C (p.Cys351Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99144798G= | CA1867262043 | TGFBR1 | c.833G= (p.Cys278=) c.845G= (p.Cys282=) c.614G= (p.Cys205=) c.602G= (p.Cys201=) c.*836G= (n.*836G=) c.1040G= (p.Cys347=) c.809G= (p.Cys270=) c.1052G= (p.Cys351=) | |
| 9 | g.99144798G>T | CA374231422 | TGFBR1 | c.833G>T (p.Cys278Phe) c.845G>T (p.Cys282Phe) c.614G>T (p.Cys205Phe) c.602G>T (p.Cys201Phe) c.*836G>T (n.*836G>T) c.1040G>T (p.Cys347Phe) c.809G>T (p.Cys270Phe) c.1052G>T (p.Cys351Phe) | ClinVar dbSNP |
| 9 | g.99144798dup | CA2580080854 | TGFBR1 | c.833dup (p.Cys278TrpfsTer13) c.845dup (p.Cys282TrpfsTer13) c.614dup (p.Cys205TrpfsTer13) c.602dup (p.Cys201TrpfsTer13) c.*836dup (n.*836dup) c.1040dup (p.Cys347TrpfsTer13) c.809dup (p.Cys270TrpfsTer13) c.1052dup (p.Cys351TrpfsTer13) | ClinVar |
| 9 | g.99144799C>A | CA374231424 | TGFBR1 | c.834C>A (p.Cys278Ter) c.846C>A (p.Cys282Ter) c.615C>A (p.Cys205Ter) c.603C>A (p.Cys201Ter) c.*837C>A (n.*837C>A) c.1041C>A (p.Cys347Ter) c.810C>A (p.Cys270Ter) c.1053C>A (p.Cys351Ter) | dbSNP |
| 9 | g.99144799C= | CA1867262055 | TGFBR1 | c.834C= (p.Cys278=) c.846C= (p.Cys282=) c.615C= (p.Cys205=) c.603C= (p.Cys201=) c.*837C= (n.*837C=) c.1041C= (p.Cys347=) c.810C= (p.Cys270=) c.1053C= (p.Cys351=) | |
| 9 | g.99144799C>G | CA10587684 | TGFBR1 | c.834C>G (p.Cys278Trp) c.846C>G (p.Cys282Trp) c.615C>G (p.Cys205Trp) c.603C>G (p.Cys201Trp) c.*837C>G (n.*837C>G) c.1041C>G (p.Cys347Trp) c.810C>G (p.Cys270Trp) c.1053C>G (p.Cys351Trp) | ClinVar dbSNP |
| 9 | g.99144799C>T | CA466434695 | TGFBR1 | c.834C>T (p.Cys278=) c.846C>T (p.Cys282=) c.615C>T (p.Cys205=) c.603C>T (p.Cys201=) c.*837C>T (n.*837C>T) c.1041C>T (p.Cys347=) c.810C>T (p.Cys270=) c.1053C>T (p.Cys351=) | dbSNP |
| 9 | g.99144800T>A | CA374231428 | TGFBR1 | c.835T>A (p.Cys279Ser) c.847T>A (p.Cys283Ser) c.616T>A (p.Cys206Ser) c.604T>A (p.Cys202Ser) c.*838T>A (n.*838T>A) c.1042T>A (p.Cys348Ser) c.811T>A (p.Cys271Ser) c.1054T>A (p.Cys352Ser) | |
| 9 | g.99144800T>C | CA374231430 | TGFBR1 | c.835T>C (p.Cys279Arg) c.847T>C (p.Cys283Arg) c.616T>C (p.Cys206Arg) c.604T>C (p.Cys202Arg) c.*838T>C (n.*838T>C) c.1042T>C (p.Cys348Arg) c.811T>C (p.Cys271Arg) c.1054T>C (p.Cys352Arg) | |
| 9 | g.99144800T>G | CA374231432 | TGFBR1 | c.835T>G (p.Cys279Gly) c.847T>G (p.Cys283Gly) c.616T>G (p.Cys206Gly) c.604T>G (p.Cys202Gly) c.*838T>G (n.*838T>G) c.1042T>G (p.Cys348Gly) c.811T>G (p.Cys271Gly) c.1054T>G (p.Cys352Gly) | |
| 9 | g.99144801G>A | CA374231434 | TGFBR1 | c.836G>A (p.Cys279Tyr) c.848G>A (p.Cys283Tyr) c.617G>A (p.Cys206Tyr) c.605G>A (p.Cys202Tyr) c.*839G>A (n.*839G>A) c.1043G>A (p.Cys348Tyr) c.812G>A (p.Cys271Tyr) c.1055G>A (p.Cys352Tyr) | ClinVar dbSNP |
| 9 | g.99144801G>C | CA374231435 | TGFBR1 | c.836G>C (p.Cys279Ser) c.848G>C (p.Cys283Ser) c.617G>C (p.Cys206Ser) c.605G>C (p.Cys202Ser) c.*839G>C (n.*839G>C) c.1043G>C (p.Cys348Ser) c.812G>C (p.Cys271Ser) c.1055G>C (p.Cys352Ser) | |
| 9 | g.99144801G>T | CA374231437 | TGFBR1 | c.836G>T (p.Cys279Phe) c.848G>T (p.Cys283Phe) c.617G>T (p.Cys206Phe) c.605G>T (p.Cys202Phe) c.*839G>T (n.*839G>T) c.1043G>T (p.Cys348Phe) c.812G>T (p.Cys271Phe) c.1055G>T (p.Cys352Phe) | |
| 9 | g.99144802T>A | CA374231439 | TGFBR1 | c.837T>A (p.Cys279Ter) c.849T>A (p.Cys283Ter) c.618T>A (p.Cys206Ter) c.606T>A (p.Cys202Ter) c.*840T>A (n.*840T>A) c.1044T>A (p.Cys348Ter) c.813T>A (p.Cys271Ter) c.1056T>A (p.Cys352Ter) | |
| 9 | g.99144802T>C | CA466434696 | TGFBR1 | c.837T>C (p.Cys279=) c.849T>C (p.Cys283=) c.618T>C (p.Cys206=) c.606T>C (p.Cys202=) c.*840T>C (n.*840T>C) c.1044T>C (p.Cys348=) c.813T>C (p.Cys271=) c.1056T>C (p.Cys352=) | |
| 9 | g.99144802T>G | CA374231440 | TGFBR1 | c.837T>G (p.Cys279Trp) c.849T>G (p.Cys283Trp) c.618T>G (p.Cys206Trp) c.606T>G (p.Cys202Trp) c.*840T>G (n.*840T>G) c.1044T>G (p.Cys348Trp) c.813T>G (p.Cys271Trp) c.1056T>G (p.Cys352Trp) | |
| 9 | g.99144803A>C | CA374231445 | TGFBR1 | c.838A>C (p.Ile280Leu) c.850A>C (p.Ile284Leu) c.619A>C (p.Ile207Leu) c.607A>C (p.Ile203Leu) c.*841A>C (n.*841A>C) c.1045A>C (p.Ile349Leu) c.814A>C (p.Ile272Leu) c.1057A>C (p.Ile353Leu) | |
| 9 | g.99144803A>G | CA374231443 | TGFBR1 | c.838A>G (p.Ile280Val) c.850A>G (p.Ile284Val) c.619A>G (p.Ile207Val) c.607A>G (p.Ile203Val) c.*841A>G (n.*841A>G) c.1045A>G (p.Ile349Val) c.814A>G (p.Ile272Val) c.1057A>G (p.Ile353Val) | ClinVar |
| 9 | g.99144803A>T | CA374231442 | TGFBR1 | c.838A>T (p.Ile280Phe) c.850A>T (p.Ile284Phe) c.619A>T (p.Ile207Phe) c.607A>T (p.Ile203Phe) c.*841A>T (n.*841A>T) c.1045A>T (p.Ile349Phe) c.814A>T (p.Ile272Phe) c.1057A>T (p.Ile353Phe) | |
| 9 | g.99144804T>A | CA374231446 | TGFBR1 | c.839T>A (p.Ile280Asn) c.851T>A (p.Ile284Asn) c.620T>A (p.Ile207Asn) c.608T>A (p.Ile203Asn) c.*842T>A (n.*842T>A) c.1046T>A (p.Ile349Asn) c.815T>A (p.Ile272Asn) c.1058T>A (p.Ile353Asn) | |
| 9 | g.99144804T>C | CA374231448 | TGFBR1 | c.839T>C (p.Ile280Thr) c.851T>C (p.Ile284Thr) c.620T>C (p.Ile207Thr) c.608T>C (p.Ile203Thr) c.*842T>C (n.*842T>C) c.1046T>C (p.Ile349Thr) c.815T>C (p.Ile272Thr) c.1058T>C (p.Ile353Thr) | ClinVar |
| 9 | g.99144804T>G | CA374231449 | TGFBR1 | c.839T>G (p.Ile280Ser) c.851T>G (p.Ile284Ser) c.620T>G (p.Ile207Ser) c.608T>G (p.Ile203Ser) c.*842T>G (n.*842T>G) c.1046T>G (p.Ile349Ser) c.815T>G (p.Ile272Ser) c.1058T>G (p.Ile353Ser) | |
| 9 | g.99144805T>A | CA466434697 | TGFBR1 | c.840T>A (p.Ile280=) c.852T>A (p.Ile284=) c.621T>A (p.Ile207=) c.609T>A (p.Ile203=) c.*843T>A (n.*843T>A) c.1047T>A (p.Ile349=) c.816T>A (p.Ile272=) c.1059T>A (p.Ile353=) | |
| 9 | g.99144805T>C | CA466434698 | TGFBR1 | c.840T>C (p.Ile280=) c.852T>C (p.Ile284=) c.621T>C (p.Ile207=) c.609T>C (p.Ile203=) c.*843T>C (n.*843T>C) c.1047T>C (p.Ile349=) c.816T>C (p.Ile272=) c.1059T>C (p.Ile353=) | |
| 9 | g.99144805T>G | CA374231451 | TGFBR1 | c.840T>G (p.Ile280Met) c.852T>G (p.Ile284Met) c.621T>G (p.Ile207Met) c.609T>G (p.Ile203Met) c.*843T>G (n.*843T>G) c.1047T>G (p.Ile349Met) c.816T>G (p.Ile272Met) c.1059T>G (p.Ile353Met) | |
| 9 | g.99144806G>A | CA374231453 | TGFBR1 | c.841G>A (p.Ala281Thr) c.853G>A (p.Ala285Thr) c.622G>A (p.Ala208Thr) c.610G>A (p.Ala204Thr) c.*844G>A (n.*844G>A) c.1048G>A (p.Ala350Thr) c.817G>A (p.Ala273Thr) c.1060G>A (p.Ala354Thr) | dbSNP |
| 9 | g.99144806G>C | CA374231454 | TGFBR1 | c.841G>C (p.Ala281Pro) c.853G>C (p.Ala285Pro) c.622G>C (p.Ala208Pro) c.610G>C (p.Ala204Pro) c.*844G>C (n.*844G>C) c.1048G>C (p.Ala350Pro) c.817G>C (p.Ala273Pro) c.1060G>C (p.Ala354Pro) | |
| 9 | g.99144806G= | CA1867262061 | TGFBR1 | c.841G= (p.Ala281=) c.853G= (p.Ala285=) c.622G= (p.Ala208=) c.610G= (p.Ala204=) c.*844G= (n.*844G=) c.1048G= (p.Ala350=) c.817G= (p.Ala273=) c.1060G= (p.Ala354=) | |
| 9 | g.99144806G>T | CA374231456 | TGFBR1 | c.841G>T (p.Ala281Ser) c.853G>T (p.Ala285Ser) c.622G>T (p.Ala208Ser) c.610G>T (p.Ala204Ser) c.*844G>T (n.*844G>T) c.1048G>T (p.Ala350Ser) c.817G>T (p.Ala273Ser) c.1060G>T (p.Ala354Ser) | ClinVar dbSNP |
| 9 | g.99144807C>A | CA374231458 | TGFBR1 | c.842C>A (p.Ala281Glu) c.854C>A (p.Ala285Glu) c.623C>A (p.Ala208Glu) c.611C>A (p.Ala204Glu) c.*845C>A (n.*845C>A) c.1049C>A (p.Ala350Glu) c.818C>A (p.Ala273Glu) c.1061C>A (p.Ala354Glu) | |
| 9 | g.99144807C>G | CA374231459 | TGFBR1 | c.842C>G (p.Ala281Gly) c.854C>G (p.Ala285Gly) c.623C>G (p.Ala208Gly) c.611C>G (p.Ala204Gly) c.*845C>G (n.*845C>G) c.1049C>G (p.Ala350Gly) c.818C>G (p.Ala273Gly) c.1061C>G (p.Ala354Gly) | |
| 9 | g.99144807C>T | CA374231460 | TGFBR1 | c.842C>T (p.Ala281Val) c.854C>T (p.Ala285Val) c.623C>T (p.Ala208Val) c.611C>T (p.Ala204Val) c.*845C>T (n.*845C>T) c.1049C>T (p.Ala350Val) c.818C>T (p.Ala273Val) c.1061C>T (p.Ala354Val) | dbSNP gnomAD v4 |
| 9 | g.99144808A>C | CA466434699 | TGFBR1 | c.843A>C (p.Ala281=) c.855A>C (p.Ala285=) c.624A>C (p.Ala208=) c.612A>C (p.Ala204=) c.*846A>C (n.*846A>C) c.1050A>C (p.Ala350=) c.819A>C (p.Ala273=) c.1062A>C (p.Ala354=) | |
| 9 | g.99144808A>G | CA466434701 | TGFBR1 | c.843A>G (p.Ala281=) c.855A>G (p.Ala285=) c.624A>G (p.Ala208=) c.612A>G (p.Ala204=) c.*846A>G (n.*846A>G) c.1050A>G (p.Ala350=) c.819A>G (p.Ala273=) c.1062A>G (p.Ala354=) | |
| 9 | g.99144808A>T | CA466434700 | TGFBR1 | c.843A>T (p.Ala281=) c.855A>T (p.Ala285=) c.624A>T (p.Ala208=) c.612A>T (p.Ala204=) c.*846A>T (n.*846A>T) c.1050A>T (p.Ala350=) c.819A>T (p.Ala273=) c.1062A>T (p.Ala354=) | |
| 9 | g.99144809G>A | CA374231463 | TGFBR1 | c.844G>A (p.Asp282Asn) c.856G>A (p.Asp286Asn) c.625G>A (p.Asp209Asn) c.613G>A (p.Asp205Asn) c.*847G>A (n.*847G>A) c.1051G>A (p.Asp351Asn) c.820G>A (p.Asp274Asn) c.1063G>A (p.Asp355Asn) | |
| 9 | g.99144809G>C | CA374231464 | TGFBR1 | c.844G>C (p.Asp282His) c.856G>C (p.Asp286His) c.625G>C (p.Asp209His) c.613G>C (p.Asp205His) c.*847G>C (n.*847G>C) c.1051G>C (p.Asp351His) c.820G>C (p.Asp274His) c.1063G>C (p.Asp355His) | |
| 9 | g.99144809G>T | CA374231466 | TGFBR1 | c.844G>T (p.Asp282Tyr) c.856G>T (p.Asp286Tyr) c.625G>T (p.Asp209Tyr) c.613G>T (p.Asp205Tyr) c.*847G>T (n.*847G>T) c.1051G>T (p.Asp351Tyr) c.820G>T (p.Asp274Tyr) c.1063G>T (p.Asp355Tyr) | |
| 9 | g.99144810A= | CA1867262067 | TGFBR1 | c.845A= (p.Asp282=) c.857A= (p.Asp286=) c.626A= (p.Asp209=) c.614A= (p.Asp205=) c.*848A= (n.*848A=) c.1052A= (p.Asp351=) c.821A= (p.Asp274=) c.1064A= (p.Asp355=) | |
| 9 | g.99144810A>C | CA322591 | TGFBR1 | c.845A>C (p.Asp282Ala) c.857A>C (p.Asp286Ala) c.626A>C (p.Asp209Ala) c.614A>C (p.Asp205Ala) c.*848A>C (n.*848A>C) c.1052A>C (p.Asp351Ala) c.821A>C (p.Asp274Ala) c.1064A>C (p.Asp355Ala) | ClinVar dbSNP |
| 9 | g.99144810A>G | CA374231470 | TGFBR1 | c.845A>G (p.Asp282Gly) c.857A>G (p.Asp286Gly) c.626A>G (p.Asp209Gly) c.614A>G (p.Asp205Gly) c.*848A>G (n.*848A>G) c.1052A>G (p.Asp351Gly) c.821A>G (p.Asp274Gly) c.1064A>G (p.Asp355Gly) | |
| 9 | g.99144810A>T | CA374231468 | TGFBR1 | c.845A>T (p.Asp282Val) c.857A>T (p.Asp286Val) c.626A>T (p.Asp209Val) c.614A>T (p.Asp205Val) c.*848A>T (n.*848A>T) c.1052A>T (p.Asp351Val) c.821A>T (p.Asp274Val) c.1064A>T (p.Asp355Val) | |
| 9 | g.99144811C>A | CA374231471 | TGFBR1 | c.846C>A (p.Asp282Glu) c.858C>A (p.Asp286Glu) c.627C>A (p.Asp209Glu) c.615C>A (p.Asp205Glu) c.*849C>A (n.*849C>A) c.1053C>A (p.Asp351Glu) c.822C>A (p.Asp274Glu) c.1065C>A (p.Asp355Glu) | COSMIC |
| 9 | g.99144811C>G | CA374231473 | TGFBR1 | c.846C>G (p.Asp282Glu) c.858C>G (p.Asp286Glu) c.627C>G (p.Asp209Glu) c.615C>G (p.Asp205Glu) c.*849C>G (n.*849C>G) c.1053C>G (p.Asp351Glu) c.822C>G (p.Asp274Glu) c.1065C>G (p.Asp355Glu) | |
| 9 | g.99144811C>T | CA466434702 | TGFBR1 | c.846C>T (p.Asp282=) c.858C>T (p.Asp286=) c.627C>T (p.Asp209=) c.615C>T (p.Asp205=) c.*849C>T (n.*849C>T) c.1053C>T (p.Asp351=) c.822C>T (p.Asp274=) c.1065C>T (p.Asp355=) | |
| 9 | g.99144812T>A | CA374231474 | TGFBR1 | c.847T>A (p.Leu283Ile) c.859T>A (p.Leu287Ile) c.628T>A (p.Leu210Ile) c.616T>A (p.Leu206Ile) c.*850T>A (n.*850T>A) c.1054T>A (p.Leu352Ile) c.823T>A (p.Leu275Ile) c.1066T>A (p.Leu356Ile) | |
| 9 | g.99144812T>C | CA466434703 | TGFBR1 | c.847T>C (p.Leu283=) c.859T>C (p.Leu287=) c.628T>C (p.Leu210=) c.616T>C (p.Leu206=) c.*850T>C (n.*850T>C) c.1054T>C (p.Leu352=) c.823T>C (p.Leu275=) c.1066T>C (p.Leu356=) | ClinVar COSMIC |
| 9 | g.99144812T>G | CA374231476 | TGFBR1 | c.847T>G (p.Leu283Val) c.859T>G (p.Leu287Val) c.628T>G (p.Leu210Val) c.616T>G (p.Leu206Val) c.*850T>G (n.*850T>G) c.1054T>G (p.Leu352Val) c.823T>G (p.Leu275Val) c.1066T>G (p.Leu356Val) | |
| 9 | g.99144813T>A | CA374231479 | TGFBR1 | c.848T>A (p.Leu283Ter) c.860T>A (p.Leu287Ter) c.629T>A (p.Leu210Ter) c.617T>A (p.Leu206Ter) c.*851T>A (n.*851T>A) c.1055T>A (p.Leu352Ter) c.824T>A (p.Leu275Ter) c.1067T>A (p.Leu356Ter) | |
| 9 | g.99144813T>C | CA374231480 | TGFBR1 | c.848T>C (p.Leu283Ser) c.860T>C (p.Leu287Ser) c.629T>C (p.Leu210Ser) c.617T>C (p.Leu206Ser) c.*851T>C (n.*851T>C) c.1055T>C (p.Leu352Ser) c.824T>C (p.Leu275Ser) c.1067T>C (p.Leu356Ser) | |
| 9 | g.99144813T>G | CA374231481 | TGFBR1 | c.848T>G (p.Leu283Ter) c.860T>G (p.Leu287Ter) c.629T>G (p.Leu210Ter) c.617T>G (p.Leu206Ter) c.*851T>G (n.*851T>G) c.1055T>G (p.Leu352Ter) c.824T>G (p.Leu275Ter) c.1067T>G (p.Leu356Ter) | |
| 9 | g.99144814A>C | CA374231483 | TGFBR1 | c.849A>C (p.Leu283Phe) c.861A>C (p.Leu287Phe) c.630A>C (p.Leu210Phe) c.618A>C (p.Leu206Phe) c.*852A>C (n.*852A>C) c.1056A>C (p.Leu352Phe) c.825A>C (p.Leu275Phe) c.1068A>C (p.Leu356Phe) | |
| 9 | g.99144814A>G | CA466434704 | TGFBR1 | c.849A>G (p.Leu283=) c.861A>G (p.Leu287=) c.630A>G (p.Leu210=) c.618A>G (p.Leu206=) c.*852A>G (n.*852A>G) c.1056A>G (p.Leu352=) c.825A>G (p.Leu275=) c.1068A>G (p.Leu356=) | gnomAD v4 |
| 9 | g.99144814A>T | CA374231484 | TGFBR1 | c.849A>T (p.Leu283Phe) c.861A>T (p.Leu287Phe) c.630A>T (p.Leu210Phe) c.618A>T (p.Leu206Phe) c.*852A>T (n.*852A>T) c.1056A>T (p.Leu352Phe) c.825A>T (p.Leu275Phe) c.1068A>T (p.Leu356Phe) | |
| 9 | g.99144815G>A | CA374231488 | TGFBR1 | c.850G>A (p.Gly284Arg) c.862G>A (p.Gly288Arg) c.631G>A (p.Gly211Arg) c.619G>A (p.Gly207Arg) c.*853G>A (n.*853G>A) c.1057G>A (p.Gly353Arg) c.826G>A (p.Gly276Arg) c.1069G>A (p.Gly357Arg) | ClinVar |
| 9 | g.99144815G>C | CA374231485 | TGFBR1 | c.850G>C (p.Gly284Arg) c.862G>C (p.Gly288Arg) c.631G>C (p.Gly211Arg) c.619G>C (p.Gly207Arg) c.*853G>C (n.*853G>C) c.1057G>C (p.Gly353Arg) c.826G>C (p.Gly276Arg) c.1069G>C (p.Gly357Arg) | |
| 9 | g.99144815G>T | CA374231487 | TGFBR1 | c.850G>T (p.Gly284Ter) c.862G>T (p.Gly288Ter) c.631G>T (p.Gly211Ter) c.619G>T (p.Gly207Ter) c.*853G>T (n.*853G>T) c.1057G>T (p.Gly353Ter) c.826G>T (p.Gly276Ter) c.1069G>T (p.Gly357Ter) | |
| 9 | g.99144816G>A | CA374231490 | TGFBR1 | c.851G>A (p.Gly284Glu) c.863G>A (p.Gly288Glu) c.632G>A (p.Gly211Glu) c.620G>A (p.Gly207Glu) c.*854G>A (n.*854G>A) c.1058G>A (p.Gly353Glu) c.827G>A (p.Gly276Glu) c.1070G>A (p.Gly357Glu) | |
| 9 | g.99144816G>C | CA374231491 | TGFBR1 | c.851G>C (p.Gly284Ala) c.863G>C (p.Gly288Ala) c.632G>C (p.Gly211Ala) c.620G>C (p.Gly207Ala) c.*854G>C (n.*854G>C) c.1058G>C (p.Gly353Ala) c.827G>C (p.Gly276Ala) c.1070G>C (p.Gly357Ala) | |
| 9 | g.99144816G= | CA1867262072 | TGFBR1 | c.851G= (p.Gly284=) c.863G= (p.Gly288=) c.632G= (p.Gly211=) c.620G= (p.Gly207=) c.*854G= (n.*854G=) c.1058G= (p.Gly353=) c.827G= (p.Gly276=) c.1070G= (p.Gly357=) | |
| 9 | g.99144816G>T | CA374231493 | TGFBR1 | c.851G>T (p.Gly284Val) c.863G>T (p.Gly288Val) c.632G>T (p.Gly211Val) c.620G>T (p.Gly207Val) c.*854G>T (n.*854G>T) c.1058G>T (p.Gly353Val) c.827G>T (p.Gly276Val) c.1070G>T (p.Gly357Val) | ClinVar dbSNP |
| 9 | g.99144816_99144817insCAATA | CA16609746 | TGFBR1 | c.851_852insCAATA (p.Leu285AsnfsTer5) c.863_864insCAATA (p.Leu289AsnfsTer5) c.632_633insCAATA (p.Leu212AsnfsTer5) c.620_621insCAATA (p.Leu208AsnfsTer5) c.*854_*855insCAATA (n.*854_*855insCAATA) c.1058_1059insCAATA (p.Leu354AsnfsTer5) c.827_828insCAATA (p.Leu277AsnfsTer5) c.1070_1071insCAATA (p.Leu358AsnfsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99144817A= | CA1867262082 | TGFBR1 | c.852A= (p.Gly284=) c.864A= (p.Gly288=) c.633A= (p.Gly211=) c.621A= (p.Gly207=) c.*855A= (n.*855A=) c.1059A= (p.Gly353=) c.828A= (p.Gly276=) c.1071A= (p.Gly357=) | |
| 9 | g.99144817A>C | CA466434705 | TGFBR1 | c.852A>C (p.Gly284=) c.864A>C (p.Gly288=) c.633A>C (p.Gly211=) c.621A>C (p.Gly207=) c.*855A>C (n.*855A>C) c.1059A>C (p.Gly353=) c.828A>C (p.Gly276=) c.1071A>C (p.Gly357=) | |
| 9 | g.99144817A>G | CA466434706 | TGFBR1 | c.852A>G (p.Gly284=) c.864A>G (p.Gly288=) c.633A>G (p.Gly211=) c.621A>G (p.Gly207=) c.*855A>G (n.*855A>G) c.1059A>G (p.Gly353=) c.828A>G (p.Gly276=) c.1071A>G (p.Gly357=) | ClinVar dbSNP |
| 9 | g.99144817A>T | CA466434707 | TGFBR1 | c.852A>T (p.Gly284=) c.864A>T (p.Gly288=) c.633A>T (p.Gly211=) c.621A>T (p.Gly207=) c.*855A>T (n.*855A>T) c.1059A>T (p.Gly353=) c.828A>T (p.Gly276=) c.1071A>T (p.Gly357=) | |
| 9 | g.99144817_99144820delinsACTG | CA1867262080 | TGFBR1 | c.852_855delinsACTG (p.Gly284=) c.864_867delinsACTG (p.Gly288=) c.633_636delinsACTG (p.Gly211=) c.621_624delinsACTG (p.Gly207=) c.*855_*858delinsACTG (n.*855_*858delinsACTG) c.1059_1062delinsACTG (p.Gly353=) c.828_831delinsACTG (p.Gly276=) c.1071_1074delinsACTG (p.Gly357=) | |
| 9 | g.99144817_99144820delinsCAATAA | CA1139771654 | TGFBR1 | c.852_855delinsCAATAA (p.Leu285AsnfsTer4) c.864_867delinsCAATAA (p.Leu289AsnfsTer4) c.633_636delinsCAATAA (p.Leu212AsnfsTer4) c.621_624delinsCAATAA (p.Leu208AsnfsTer4) c.*855_*858delinsCAATAA (n.*855_*858delinsCAATAA) c.1059_1062delinsCAATAA (p.Leu354AsnfsTer4) c.828_831delinsCAATAA (p.Leu277AsnfsTer4) c.1071_1074delinsCAATAA (p.Leu358AsnfsTer4) | ClinVar dbSNP |
| 9 | g.99144818C>A | CA374231494 | TGFBR1 | c.853C>A (p.Leu285Met) c.865C>A (p.Leu289Met) c.634C>A (p.Leu212Met) c.622C>A (p.Leu208Met) c.*856C>A (n.*856C>A) c.1060C>A (p.Leu354Met) c.829C>A (p.Leu277Met) c.1072C>A (p.Leu358Met) | ClinVar |
| 9 | g.99144818C>G | CA374231496 | TGFBR1 | c.853C>G (p.Leu285Val) c.865C>G (p.Leu289Val) c.634C>G (p.Leu212Val) c.622C>G (p.Leu208Val) c.*856C>G (n.*856C>G) c.1060C>G (p.Leu354Val) c.829C>G (p.Leu277Val) c.1072C>G (p.Leu358Val) | |
| 9 | g.99144818C>T | CA466434708 | TGFBR1 | c.853C>T (p.Leu285=) c.865C>T (p.Leu289=) c.634C>T (p.Leu212=) c.622C>T (p.Leu208=) c.*856C>T (n.*856C>T) c.1060C>T (p.Leu354=) c.829C>T (p.Leu277=) c.1072C>T (p.Leu358=) | dbSNP |
| 9 | g.99144818_99144820del | CA589583321 | TGFBR1 | c.853_855del (p.Leu285del) c.865_867del (p.Leu289del) c.634_636del (p.Leu212del) c.622_624del (p.Leu208del) c.*856_*858del (n.*856_*858del) c.1060_1062del (p.Leu354del) c.829_831del (p.Leu277del) c.1072_1074del (p.Leu358del) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99144819T>A | CA374231498 | TGFBR1 | c.854T>A (p.Leu285Gln) c.866T>A (p.Leu289Gln) c.635T>A (p.Leu212Gln) c.623T>A (p.Leu208Gln) c.*857T>A (n.*857T>A) c.1061T>A (p.Leu354Gln) c.830T>A (p.Leu277Gln) c.1073T>A (p.Leu358Gln) | |
| 9 | g.99144819T>C | CA374231501 | TGFBR1 | c.854T>C (p.Leu285Pro) c.866T>C (p.Leu289Pro) c.635T>C (p.Leu212Pro) c.623T>C (p.Leu208Pro) c.*857T>C (n.*857T>C) c.1061T>C (p.Leu354Pro) c.830T>C (p.Leu277Pro) c.1073T>C (p.Leu358Pro) | ClinVar dbSNP COSMIC |
| 9 | g.99144819T>G | CA374231499 | TGFBR1 | c.854T>G (p.Leu285Arg) c.866T>G (p.Leu289Arg) c.635T>G (p.Leu212Arg) c.623T>G (p.Leu208Arg) c.*857T>G (n.*857T>G) c.1061T>G (p.Leu354Arg) c.830T>G (p.Leu277Arg) c.1073T>G (p.Leu358Arg) | |
| 9 | g.99144819T= | CA1867262091 | TGFBR1 | c.854T= (p.Leu285=) c.866T= (p.Leu289=) c.635T= (p.Leu212=) c.623T= (p.Leu208=) c.*857T= (n.*857T=) c.1061T= (p.Leu354=) c.830T= (p.Leu277=) c.1073T= (p.Leu358=) | |
| 9 | g.99144820G>A | CA466434709 | TGFBR1 | c.855G>A (p.Leu285=) c.867G>A (p.Leu289=) c.636G>A (p.Leu212=) c.624G>A (p.Leu208=) c.*858G>A (n.*858G>A) c.1062G>A (p.Leu354=) c.831G>A (p.Leu277=) c.1074G>A (p.Leu358=) | |
| 9 | g.99144820G>C | CA466434710 | TGFBR1 | c.855G>C (p.Leu285=) c.867G>C (p.Leu289=) c.636G>C (p.Leu212=) c.624G>C (p.Leu208=) c.*858G>C (n.*858G>C) c.1062G>C (p.Leu354=) c.831G>C (p.Leu277=) c.1074G>C (p.Leu358=) | |
| 9 | g.99144820G>T | CA466434711 | TGFBR1 | c.855G>T (p.Leu285=) c.867G>T (p.Leu289=) c.636G>T (p.Leu212=) c.624G>T (p.Leu208=) c.*858G>T (n.*858G>T) c.1062G>T (p.Leu354=) c.831G>T (p.Leu277=) c.1074G>T (p.Leu358=) | |
| 9 | g.99144821G>A | CA374231503 | TGFBR1 | c.856G>A (p.Ala286Thr) c.868G>A (p.Ala290Thr) c.637G>A (p.Ala213Thr) c.625G>A (p.Ala209Thr) c.*859G>A (n.*859G>A) c.1063G>A (p.Ala355Thr) c.832G>A (p.Ala278Thr) c.1075G>A (p.Ala359Thr) | ClinVar dbSNP |
| 9 | g.99144821G>C | CA374231504 | TGFBR1 | c.856G>C (p.Ala286Pro) c.868G>C (p.Ala290Pro) c.637G>C (p.Ala213Pro) c.625G>C (p.Ala209Pro) c.*859G>C (n.*859G>C) c.1063G>C (p.Ala355Pro) c.832G>C (p.Ala278Pro) c.1075G>C (p.Ala359Pro) | ClinVar |
| 9 | g.99144821G>T | CA374231505 | TGFBR1 | c.856G>T (p.Ala286Ser) c.868G>T (p.Ala290Ser) c.637G>T (p.Ala213Ser) c.625G>T (p.Ala209Ser) c.*859G>T (n.*859G>T) c.1063G>T (p.Ala355Ser) c.832G>T (p.Ala278Ser) c.1075G>T (p.Ala359Ser) | gnomAD v4 |
| 9 | g.99144822C>A | CA374231507 | TGFBR1 | c.857C>A (p.Ala286Glu) c.869C>A (p.Ala290Glu) c.638C>A (p.Ala213Glu) c.626C>A (p.Ala209Glu) c.*860C>A (n.*860C>A) c.1064C>A (p.Ala355Glu) c.833C>A (p.Ala278Glu) c.1076C>A (p.Ala359Glu) | ClinVar |
| 9 | g.99144822C>G | CA374231509 | TGFBR1 | c.857C>G (p.Ala286Gly) c.869C>G (p.Ala290Gly) c.638C>G (p.Ala213Gly) c.626C>G (p.Ala209Gly) c.*860C>G (n.*860C>G) c.1064C>G (p.Ala355Gly) c.833C>G (p.Ala278Gly) c.1076C>G (p.Ala359Gly) | |
| 9 | g.99144822C>T | CA374231510 | TGFBR1 | c.857C>T (p.Ala286Val) c.869C>T (p.Ala290Val) c.638C>T (p.Ala213Val) c.626C>T (p.Ala209Val) c.*860C>T (n.*860C>T) c.1064C>T (p.Ala355Val) c.833C>T (p.Ala278Val) c.1076C>T (p.Ala359Val) | |
| 9 | g.99144824_99144831del | CA2690966177 | TGFBR1 | c.859_866del (p.Val287Ter) c.871_878del (p.Val291Ter) c.640_647del (p.Val214Ter) c.628_635del (p.Val210Ter) c.*862_*869del (n.*862_*869del) c.1066_1073del (p.Val356Ter) c.835_842del (p.Val279Ter) c.1078_1085del (p.Val360Ter) | gnomAD v4 |
| 9 | g.99144823A= | CA1867262098 | TGFBR1 | c.858A= (p.Ala286=) c.870A= (p.Ala290=) c.639A= (p.Ala213=) c.627A= (p.Ala209=) c.*861A= (n.*861A=) c.1065A= (p.Ala355=) c.834A= (p.Ala278=) c.1077A= (p.Ala359=) | |
| 9 | g.99144823A>C | CA043820 | TGFBR1 | c.858A>C (p.Ala286=) c.870A>C (p.Ala290=) c.639A>C (p.Ala213=) c.627A>C (p.Ala209=) c.*861A>C (n.*861A>C) c.1065A>C (p.Ala355=) c.834A>C (p.Ala278=) c.1077A>C (p.Ala359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99144823A>G | CA043833 | TGFBR1 | c.858A>G (p.Ala286=) c.870A>G (p.Ala290=) c.639A>G (p.Ala213=) c.627A>G (p.Ala209=) c.*861A>G (n.*861A>G) c.1065A>G (p.Ala355=) c.834A>G (p.Ala278=) c.1077A>G (p.Ala359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99144823A>T | CA466434712 | TGFBR1 | c.858A>T (p.Ala286=) c.870A>T (p.Ala290=) c.639A>T (p.Ala213=) c.627A>T (p.Ala209=) c.*861A>T (n.*861A>T) c.1065A>T (p.Ala355=) c.834A>T (p.Ala278=) c.1077A>T (p.Ala359=) | |
| 9 | g.99144824G>A | CA374231512 | TGFBR1 | c.859G>A (p.Val287Ile) c.871G>A (p.Val291Ile) c.640G>A (p.Val214Ile) c.628G>A (p.Val210Ile) c.*862G>A (n.*862G>A) c.1066G>A (p.Val356Ile) c.835G>A (p.Val279Ile) c.1078G>A (p.Val360Ile) | dbSNP |
| 9 | g.99144824G>C | CA374231514 | TGFBR1 | c.859G>C (p.Val287Leu) c.871G>C (p.Val291Leu) c.640G>C (p.Val214Leu) c.628G>C (p.Val210Leu) c.*862G>C (n.*862G>C) c.1066G>C (p.Val356Leu) c.835G>C (p.Val279Leu) c.1078G>C (p.Val360Leu) | |
| 9 | g.99144824G>T | CA374231515 | TGFBR1 | c.859G>T (p.Val287Leu) c.871G>T (p.Val291Leu) c.640G>T (p.Val214Leu) c.628G>T (p.Val210Leu) c.*862G>T (n.*862G>T) c.1066G>T (p.Val356Leu) c.835G>T (p.Val279Leu) c.1078G>T (p.Val360Leu) | |
| 9 | g.99144825T>A | CA374231518 | TGFBR1 | c.860T>A (p.Val287Glu) c.872T>A (p.Val291Glu) c.641T>A (p.Val214Glu) c.629T>A (p.Val210Glu) c.*863T>A (n.*863T>A) c.1067T>A (p.Val356Glu) c.836T>A (p.Val279Glu) c.1079T>A (p.Val360Glu) | gnomAD v4 |
| 9 | g.99144825T>C | CA374231521 | TGFBR1 | c.860T>C (p.Val287Ala) c.872T>C (p.Val291Ala) c.641T>C (p.Val214Ala) c.629T>C (p.Val210Ala) c.*863T>C (n.*863T>C) c.1067T>C (p.Val356Ala) c.836T>C (p.Val279Ala) c.1079T>C (p.Val360Ala) | |
| 9 | g.99144825T>G | CA374231519 | TGFBR1 | c.860T>G (p.Val287Gly) c.872T>G (p.Val291Gly) c.641T>G (p.Val214Gly) c.629T>G (p.Val210Gly) c.*863T>G (n.*863T>G) c.1067T>G (p.Val356Gly) c.836T>G (p.Val279Gly) c.1079T>G (p.Val360Gly) | |
| 9 | g.99144826A>C | CA466434713 | TGFBR1 | c.861A>C (p.Val287=) c.873A>C (p.Val291=) c.642A>C (p.Val214=) c.630A>C (p.Val210=) c.*864A>C (n.*864A>C) c.1068A>C (p.Val356=) c.837A>C (p.Val279=) c.1080A>C (p.Val360=) | |
| 9 | g.99144826A>G | CA466434714 | TGFBR1 | c.861A>G (p.Val287=) c.873A>G (p.Val291=) c.642A>G (p.Val214=) c.630A>G (p.Val210=) c.*864A>G (n.*864A>G) c.1068A>G (p.Val356=) c.837A>G (p.Val279=) c.1080A>G (p.Val360=) | |
| 9 | g.99144826A>T | CA466434715 | TGFBR1 | c.861A>T (p.Val287=) c.873A>T (p.Val291=) c.642A>T (p.Val214=) c.630A>T (p.Val210=) c.*864A>T (n.*864A>T) c.1068A>T (p.Val356=) c.837A>T (p.Val279=) c.1080A>T (p.Val360=) | |
| 9 | g.99144827A= | CA1867262105 | TGFBR1 | c.862A= (p.Arg288=) c.874A= (p.Arg292=) c.643A= (p.Arg215=) c.631A= (p.Arg211=) c.*865A= (n.*865A=) c.1069A= (p.Arg357=) c.838A= (p.Arg280=) c.1081A= (p.Arg361=) | |
| 9 | g.99144827A>C | CA466434716 | TGFBR1 | c.862A>C (p.Arg288=) c.874A>C (p.Arg292=) c.643A>C (p.Arg215=) c.631A>C (p.Arg211=) c.*865A>C (n.*865A>C) c.1069A>C (p.Arg357=) c.838A>C (p.Arg280=) c.1081A>C (p.Arg361=) | |
| 9 | g.99144827A>G | CA196893018 | TGFBR1 | c.862A>G (p.Arg288Gly) c.874A>G (p.Arg292Gly) c.643A>G (p.Arg215Gly) c.631A>G (p.Arg211Gly) c.*865A>G (n.*865A>G) c.1069A>G (p.Arg357Gly) c.838A>G (p.Arg280Gly) c.1081A>G (p.Arg361Gly) | dbSNP |
| 9 | g.99144827A>T | CA374231522 | TGFBR1 | c.862A>T (p.Arg288Ter) c.874A>T (p.Arg292Ter) c.643A>T (p.Arg215Ter) c.631A>T (p.Arg211Ter) c.*865A>T (n.*865A>T) c.1069A>T (p.Arg357Ter) c.838A>T (p.Arg280Ter) c.1081A>T (p.Arg361Ter) | |
| 9 | g.99144828G>A | CA374231523 | TGFBR1 | c.863G>A (p.Arg288Lys) c.875G>A (p.Arg292Lys) c.644G>A (p.Arg215Lys) c.632G>A (p.Arg211Lys) c.*866G>A (n.*866G>A) c.1070G>A (p.Arg357Lys) c.839G>A (p.Arg280Lys) c.1082G>A (p.Arg361Lys) | |
| 9 | g.99144828G>C | CA374231524 | TGFBR1 | c.863G>C (p.Arg288Thr) c.875G>C (p.Arg292Thr) c.644G>C (p.Arg215Thr) c.632G>C (p.Arg211Thr) c.*866G>C (n.*866G>C) c.1070G>C (p.Arg357Thr) c.839G>C (p.Arg280Thr) c.1082G>C (p.Arg361Thr) | |
| 9 | g.99144828G>T | CA374231526 | TGFBR1 | c.863G>T (p.Arg288Ile) c.875G>T (p.Arg292Ile) c.644G>T (p.Arg215Ile) c.632G>T (p.Arg211Ile) c.*866G>T (n.*866G>T) c.1070G>T (p.Arg357Ile) c.839G>T (p.Arg280Ile) c.1082G>T (p.Arg361Ile) | |
| 9 | g.99144829A>C | CA374231528 | TGFBR1 | c.864A>C (p.Arg288Ser) c.876A>C (p.Arg292Ser) c.645A>C (p.Arg215Ser) c.633A>C (p.Arg211Ser) c.*867A>C (n.*867A>C) c.1071A>C (p.Arg357Ser) c.840A>C (p.Arg280Ser) c.1083A>C (p.Arg361Ser) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99144829A>G | CA466434717 | TGFBR1 | c.864A>G (p.Arg288=) c.876A>G (p.Arg292=) c.645A>G (p.Arg215=) c.633A>G (p.Arg211=) c.*867A>G (n.*867A>G) c.1071A>G (p.Arg357=) c.840A>G (p.Arg280=) c.1083A>G (p.Arg361=) | ClinVar dbSNP |
| 9 | g.99144829A>T | CA374231530 | TGFBR1 | c.864A>T (p.Arg288Ser) c.876A>T (p.Arg292Ser) c.645A>T (p.Arg215Ser) c.633A>T (p.Arg211Ser) c.*867A>T (n.*867A>T) c.1071A>T (p.Arg357Ser) c.840A>T (p.Arg280Ser) c.1083A>T (p.Arg361Ser) | |
| 9 | g.99144830C>A | CA374231531 | TGFBR1 | c.865C>A (p.His289Asn) c.877C>A (p.His293Asn) c.646C>A (p.His216Asn) c.634C>A (p.His212Asn) c.*868C>A (n.*868C>A) c.1072C>A (p.His358Asn) c.841C>A (p.His281Asn) c.1084C>A (p.His362Asn) | |
| 9 | g.99144830C>G | CA374231532 | TGFBR1 | c.865C>G (p.His289Asp) c.877C>G (p.His293Asp) c.646C>G (p.His216Asp) c.634C>G (p.His212Asp) c.*868C>G (n.*868C>G) c.1072C>G (p.His358Asp) c.841C>G (p.His281Asp) c.1084C>G (p.His362Asp) | |
| 9 | g.99144830C>T | CA374231534 | TGFBR1 | c.865C>T (p.His289Tyr) c.877C>T (p.His293Tyr) c.646C>T (p.His216Tyr) c.634C>T (p.His212Tyr) c.*868C>T (n.*868C>T) c.1072C>T (p.His358Tyr) c.841C>T (p.His281Tyr) c.1084C>T (p.His362Tyr) | |
| 9 | g.99144831A>C | CA374231535 | TGFBR1 | c.866A>C (p.His289Pro) c.878A>C (p.His293Pro) c.647A>C (p.His216Pro) c.635A>C (p.His212Pro) c.*869A>C (n.*869A>C) c.1073A>C (p.His358Pro) c.842A>C (p.His281Pro) c.1085A>C (p.His362Pro) | |
| 9 | g.99144831A>G | CA374231537 | TGFBR1 | c.866A>G (p.His289Arg) c.878A>G (p.His293Arg) c.647A>G (p.His216Arg) c.635A>G (p.His212Arg) c.*869A>G (n.*869A>G) c.1073A>G (p.His358Arg) c.842A>G (p.His281Arg) c.1085A>G (p.His362Arg) | ClinVar gnomAD v4 |
| 9 | g.99144831A>T | CA374231538 | TGFBR1 | c.866A>T (p.His289Leu) c.878A>T (p.His293Leu) c.647A>T (p.His216Leu) c.635A>T (p.His212Leu) c.*869A>T (n.*869A>T) c.1073A>T (p.His358Leu) c.842A>T (p.His281Leu) c.1085A>T (p.His362Leu) | |
| 9 | g.99144832T>A | CA374231540 | TGFBR1 | c.867T>A (p.His289Gln) c.879T>A (p.His293Gln) c.648T>A (p.His216Gln) c.636T>A (p.His212Gln) c.*870T>A (n.*870T>A) c.1074T>A (p.His358Gln) c.843T>A (p.His281Gln) c.1086T>A (p.His362Gln) | |
| 9 | g.99144832T>C | CA466434718 | TGFBR1 | c.867T>C (p.His289=) c.879T>C (p.His293=) c.648T>C (p.His216=) c.636T>C (p.His212=) c.*870T>C (n.*870T>C) c.1074T>C (p.His358=) c.843T>C (p.His281=) c.1086T>C (p.His362=) | gnomAD v4 |
| 9 | g.99144832T>G | CA374231542 | TGFBR1 | c.867T>G (p.His289Gln) c.879T>G (p.His293Gln) c.648T>G (p.His216Gln) c.636T>G (p.His212Gln) c.*870T>G (n.*870T>G) c.1074T>G (p.His358Gln) c.843T>G (p.His281Gln) c.1086T>G (p.His362Gln) | |
| 9 | g.99144833G>A | CA374231543 | TGFBR1 | c.868G>A (p.Asp290Asn) c.880G>A (p.Asp294Asn) c.649G>A (p.Asp217Asn) c.637G>A (p.Asp213Asn) c.*871G>A (n.*871G>A) c.1075G>A (p.Asp359Asn) c.844G>A (p.Asp282Asn) c.1087G>A (p.Asp363Asn) | dbSNP |
| 9 | g.99144833G>C | CA374231544 | TGFBR1 | c.868G>C (p.Asp290His) c.880G>C (p.Asp294His) c.649G>C (p.Asp217His) c.637G>C (p.Asp213His) c.*871G>C (n.*871G>C) c.1075G>C (p.Asp359His) c.844G>C (p.Asp282His) c.1087G>C (p.Asp363His) | |
| 9 | g.99144833G>T | CA374231545 | TGFBR1 | c.868G>T (p.Asp290Tyr) c.880G>T (p.Asp294Tyr) c.649G>T (p.Asp217Tyr) c.637G>T (p.Asp213Tyr) c.*871G>T (n.*871G>T) c.1075G>T (p.Asp359Tyr) c.844G>T (p.Asp282Tyr) c.1087G>T (p.Asp363Tyr) | |
| 9 | g.99144834A>C | CA374231548 | TGFBR1 | c.869A>C (p.Asp290Ala) c.881A>C (p.Asp294Ala) c.650A>C (p.Asp217Ala) c.638A>C (p.Asp213Ala) c.*872A>C (n.*872A>C) c.1076A>C (p.Asp359Ala) c.845A>C (p.Asp282Ala) c.1088A>C (p.Asp363Ala) | |
| 9 | g.99144834A>G | CA374231549 | TGFBR1 | c.869A>G (p.Asp290Gly) c.881A>G (p.Asp294Gly) c.650A>G (p.Asp217Gly) c.638A>G (p.Asp213Gly) c.*872A>G (n.*872A>G) c.1076A>G (p.Asp359Gly) c.845A>G (p.Asp282Gly) c.1088A>G (p.Asp363Gly) | gnomAD v4 |
| 9 | g.99144834A>T | CA374231550 | TGFBR1 | c.869A>T (p.Asp290Val) c.881A>T (p.Asp294Val) c.650A>T (p.Asp217Val) c.638A>T (p.Asp213Val) c.*872A>T (n.*872A>T) c.1076A>T (p.Asp359Val) c.845A>T (p.Asp282Val) c.1088A>T (p.Asp363Val) | |
| 9 | g.99144835T>A | CA374231551 | TGFBR1 | c.870T>A (p.Asp290Glu) c.882T>A (p.Asp294Glu) c.651T>A (p.Asp217Glu) c.639T>A (p.Asp213Glu) c.*873T>A (n.*873T>A) c.1077T>A (p.Asp359Glu) c.846T>A (p.Asp282Glu) c.1089T>A (p.Asp363Glu) | |
| 9 | g.99144835T>C | CA466434719 | TGFBR1 | c.870T>C (p.Asp290=) c.882T>C (p.Asp294=) c.651T>C (p.Asp217=) c.639T>C (p.Asp213=) c.*873T>C (n.*873T>C) c.1077T>C (p.Asp359=) c.846T>C (p.Asp282=) c.1089T>C (p.Asp363=) | |
| 9 | g.99144835T>G | CA374231553 | TGFBR1 | c.870T>G (p.Asp290Glu) c.882T>G (p.Asp294Glu) c.651T>G (p.Asp217Glu) c.639T>G (p.Asp213Glu) c.*873T>G (n.*873T>G) c.1077T>G (p.Asp359Glu) c.846T>G (p.Asp282Glu) c.1089T>G (p.Asp363Glu) | |
| 9 | g.99144836T>A | CA374231554 | TGFBR1 | c.871T>A (p.Ser291Thr) c.883T>A (p.Ser295Thr) c.652T>A (p.Ser218Thr) c.640T>A (p.Ser214Thr) c.*874T>A (n.*874T>A) c.1078T>A (p.Ser360Thr) c.847T>A (p.Ser283Thr) c.1090T>A (p.Ser364Thr) | |
| 9 | g.99144836T>C | CA374231556 | TGFBR1 | c.871T>C (p.Ser291Pro) c.883T>C (p.Ser295Pro) c.652T>C (p.Ser218Pro) c.640T>C (p.Ser214Pro) c.*874T>C (n.*874T>C) c.1078T>C (p.Ser360Pro) c.847T>C (p.Ser283Pro) c.1090T>C (p.Ser364Pro) | |
| 9 | g.99144836T>G | CA374231557 | TGFBR1 | c.871T>G (p.Ser291Ala) c.883T>G (p.Ser295Ala) c.652T>G (p.Ser218Ala) c.640T>G (p.Ser214Ala) c.*874T>G (n.*874T>G) c.1078T>G (p.Ser360Ala) c.847T>G (p.Ser283Ala) c.1090T>G (p.Ser364Ala) | |
| 9 | g.99144837C>A | CA374231562 | TGFBR1 | c.872C>A (p.Ser291Ter) c.884C>A (p.Ser295Ter) c.653C>A (p.Ser218Ter) c.641C>A (p.Ser214Ter) c.*875C>A (n.*875C>A) c.1079C>A (p.Ser360Ter) c.848C>A (p.Ser283Ter) c.1091C>A (p.Ser364Ter) | |
| 9 | g.99144837C>G | CA374231561 | TGFBR1 | c.872C>G (p.Ser291Ter) c.884C>G (p.Ser295Ter) c.653C>G (p.Ser218Ter) c.641C>G (p.Ser214Ter) c.*875C>G (n.*875C>G) c.1079C>G (p.Ser360Ter) c.848C>G (p.Ser283Ter) c.1091C>G (p.Ser364Ter) | |
| 9 | g.99144837C>T | CA374231559 | TGFBR1 | c.872C>T (p.Ser291Leu) c.884C>T (p.Ser295Leu) c.653C>T (p.Ser218Leu) c.641C>T (p.Ser214Leu) c.*875C>T (n.*875C>T) c.1079C>T (p.Ser360Leu) c.848C>T (p.Ser283Leu) c.1091C>T (p.Ser364Leu) | |
| 9 | g.99144838A>C | CA466434720 | TGFBR1 | c.873A>C (p.Ser291=) c.885A>C (p.Ser295=) c.654A>C (p.Ser218=) c.642A>C (p.Ser214=) c.*876A>C (n.*876A>C) c.1080A>C (p.Ser360=) c.849A>C (p.Ser283=) c.1092A>C (p.Ser364=) | ClinVar |
| 9 | g.99144838A>G | CA466434721 | TGFBR1 | c.873A>G (p.Ser291=) c.885A>G (p.Ser295=) c.654A>G (p.Ser218=) c.642A>G (p.Ser214=) c.*876A>G (n.*876A>G) c.1080A>G (p.Ser360=) c.849A>G (p.Ser283=) c.1092A>G (p.Ser364=) | gnomAD v4 |
| 9 | g.99144838A>T | CA466434722 | TGFBR1 | c.873A>T (p.Ser291=) c.885A>T (p.Ser295=) c.654A>T (p.Ser218=) c.642A>T (p.Ser214=) c.*876A>T (n.*876A>T) c.1080A>T (p.Ser360=) c.849A>T (p.Ser283=) c.1092A>T (p.Ser364=) | |
| 9 | g.99144839G>A | CA374231564 | TGFBR1 | c.874G>A (p.Ala292Thr) c.886G>A (p.Ala296Thr) c.655G>A (p.Ala219Thr) c.643G>A (p.Ala215Thr) c.*877G>A (n.*877G>A) c.1081G>A (p.Ala361Thr) c.850G>A (p.Ala284Thr) c.1093G>A (p.Ala365Thr) | dbSNP gnomAD v4 |
| 9 | g.99144839G>C | CA374231568 | TGFBR1 | c.874G>C (p.Ala292Pro) c.886G>C (p.Ala296Pro) c.655G>C (p.Ala219Pro) c.643G>C (p.Ala215Pro) c.*877G>C (n.*877G>C) c.1081G>C (p.Ala361Pro) c.850G>C (p.Ala284Pro) c.1093G>C (p.Ala365Pro) | |
| 9 | g.99144839G= | CA1867262108 | TGFBR1 | c.874G= (p.Ala292=) c.886G= (p.Ala296=) c.655G= (p.Ala219=) c.643G= (p.Ala215=) c.*877G= (n.*877G=) c.1081G= (p.Ala361=) c.850G= (p.Ala284=) c.1093G= (p.Ala365=) | |
| 9 | g.99144839G>T | CA374231566 | TGFBR1 | c.874G>T (p.Ala292Ser) c.886G>T (p.Ala296Ser) c.655G>T (p.Ala219Ser) c.643G>T (p.Ala215Ser) c.*877G>T (n.*877G>T) c.1081G>T (p.Ala361Ser) c.850G>T (p.Ala284Ser) c.1093G>T (p.Ala365Ser) | |
| 9 | g.99144840C>A | CA374231569 | TGFBR1 | c.875C>A (p.Ala292Asp) c.887C>A (p.Ala296Asp) c.656C>A (p.Ala219Asp) c.644C>A (p.Ala215Asp) c.*878C>A (n.*878C>A) c.1082C>A (p.Ala361Asp) c.851C>A (p.Ala284Asp) c.1094C>A (p.Ala365Asp) | |
| 9 | g.99144840C>G | CA374231570 | TGFBR1 | c.875C>G (p.Ala292Gly) c.887C>G (p.Ala296Gly) c.656C>G (p.Ala219Gly) c.644C>G (p.Ala215Gly) c.*878C>G (n.*878C>G) c.1082C>G (p.Ala361Gly) c.851C>G (p.Ala284Gly) c.1094C>G (p.Ala365Gly) | |
| 9 | g.99144840C>T | CA374231571 | TGFBR1 | c.875C>T (p.Ala292Val) c.887C>T (p.Ala296Val) c.656C>T (p.Ala219Val) c.644C>T (p.Ala215Val) c.*878C>T (n.*878C>T) c.1082C>T (p.Ala361Val) c.851C>T (p.Ala284Val) c.1094C>T (p.Ala365Val) | dbSNP gnomAD v4 |
| 9 | g.99144841del | CA2697557938 | TGFBR1 | c.876del (p.Thr293GlnfsTer27) c.888del (p.Thr297GlnfsTer27) c.657del (p.Thr220GlnfsTer?) c.645del (p.Thr216GlnfsTer27) c.*879del (n.*879del) c.1083del (p.Thr362GlnfsTer27) c.852del (p.Thr285GlnfsTer27) c.1095del (p.Thr366GlnfsTer?) c.1095del (p.Thr366GlnfsTer27) | ClinVar |
| 9 | g.99144841C>A | CA466434725 | TGFBR1 | c.876C>A (p.Ala292=) c.888C>A (p.Ala296=) c.657C>A (p.Ala219=) c.645C>A (p.Ala215=) c.*879C>A (n.*879C>A) c.1083C>A (p.Ala361=) c.852C>A (p.Ala284=) c.1095C>A (p.Ala365=) | |
| 9 | g.99144841C= | CA1867262112 | TGFBR1 | c.876C= (p.Ala292=) c.888C= (p.Ala296=) c.657C= (p.Ala219=) c.645C= (p.Ala215=) c.*879C= (n.*879C=) c.1083C= (p.Ala361=) c.852C= (p.Ala284=) c.1095C= (p.Ala365=) | |
| 9 | g.99144841C>G | CA466434724 | TGFBR1 | c.876C>G (p.Ala292=) c.888C>G (p.Ala296=) c.657C>G (p.Ala219=) c.645C>G (p.Ala215=) c.*879C>G (n.*879C>G) c.1083C>G (p.Ala361=) c.852C>G (p.Ala284=) c.1095C>G (p.Ala365=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99144841C>T | CA466434726 | TGFBR1 | c.876C>T (p.Ala292=) c.888C>T (p.Ala296=) c.657C>T (p.Ala219=) c.645C>T (p.Ala215=) c.*879C>T (n.*879C>T) c.1083C>T (p.Ala361=) c.852C>T (p.Ala284=) c.1095C>T (p.Ala365=) | |
| 9 | g.99144842A>C | CA374231573 | TGFBR1 | c.877A>C (p.Thr293Pro) c.889A>C (p.Thr297Pro) c.658A>C (p.Thr220Pro) c.646A>C (p.Thr216Pro) c.*880A>C (n.*880A>C) c.1084A>C (p.Thr362Pro) c.853A>C (p.Thr285Pro) c.1096A>C (p.Thr366Pro) | |
| 9 | g.99144842A>G | CA374231575 | TGFBR1 | c.877A>G (p.Thr293Ala) c.889A>G (p.Thr297Ala) c.658A>G (p.Thr220Ala) c.646A>G (p.Thr216Ala) c.*880A>G (n.*880A>G) c.1084A>G (p.Thr362Ala) c.853A>G (p.Thr285Ala) c.1096A>G (p.Thr366Ala) | |
| 9 | g.99144842A>T | CA374231576 | TGFBR1 | c.877A>T (p.Thr293Ser) c.889A>T (p.Thr297Ser) c.658A>T (p.Thr220Ser) c.646A>T (p.Thr216Ser) c.*880A>T (n.*880A>T) c.1084A>T (p.Thr362Ser) c.853A>T (p.Thr285Ser) c.1096A>T (p.Thr366Ser) | dbSNP |
| 9 | g.99144843C>A | CA374231578 | TGFBR1 | c.878C>A (p.Thr293Lys) c.890C>A (p.Thr297Lys) c.659C>A (p.Thr220Lys) c.647C>A (p.Thr216Lys) c.*881C>A (n.*881C>A) c.1085C>A (p.Thr362Lys) c.854C>A (p.Thr285Lys) c.1097C>A (p.Thr366Lys) | |
| 9 | g.99144843C>G | CA374231579 | TGFBR1 | c.878C>G (p.Thr293Arg) c.890C>G (p.Thr297Arg) c.659C>G (p.Thr220Arg) c.647C>G (p.Thr216Arg) c.*881C>G (n.*881C>G) c.1085C>G (p.Thr362Arg) c.854C>G (p.Thr285Arg) c.1097C>G (p.Thr366Arg) | |
| 9 | g.99144843C>T | CA374231581 | TGFBR1 | c.878C>T (p.Thr293Ile) c.890C>T (p.Thr297Ile) c.659C>T (p.Thr220Ile) c.647C>T (p.Thr216Ile) c.*881C>T (n.*881C>T) c.1085C>T (p.Thr362Ile) c.854C>T (p.Thr285Ile) c.1097C>T (p.Thr366Ile) | |
| 9 | g.99144844A>C | CA466434727 | TGFBR1 | c.879A>C (p.Thr293=) c.891A>C (p.Thr297=) c.660A>C (p.Thr220=) c.648A>C (p.Thr216=) c.*882A>C (n.*882A>C) c.1086A>C (p.Thr362=) c.855A>C (p.Thr285=) c.1098A>C (p.Thr366=) | |
| 9 | g.99144844A>G | CA466434728 | TGFBR1 | c.879A>G (p.Thr293=) c.891A>G (p.Thr297=) c.660A>G (p.Thr220=) c.648A>G (p.Thr216=) c.*882A>G (n.*882A>G) c.1086A>G (p.Thr362=) c.855A>G (p.Thr285=) c.1098A>G (p.Thr366=) | |
| 9 | g.99144844A>T | CA466434729 | TGFBR1 | c.879A>T (p.Thr293=) c.891A>T (p.Thr297=) c.660A>T (p.Thr220=) c.648A>T (p.Thr216=) c.*882A>T (n.*882A>T) c.1086A>T (p.Thr362=) c.855A>T (p.Thr285=) c.1098A>T (p.Thr366=) | |
| 9 | g.99144845G>A | CA374231583 | TGFBR1 | c.880G>A (p.Asp294Asn) c.892G>A (p.Asp298Asn) c.661G>A (p.Asp221Asn) c.649G>A (p.Asp217Asn) c.*883G>A (n.*883G>A) c.1087G>A (p.Asp363Asn) c.856G>A (p.Asp286Asn) c.1099G>A (p.Asp367Asn) | ClinVar dbSNP |
| 9 | g.99144845G>C | CA374231584 | TGFBR1 | c.880G>C (p.Asp294His) c.892G>C (p.Asp298His) c.661G>C (p.Asp221His) c.649G>C (p.Asp217His) c.*883G>C (n.*883G>C) c.1087G>C (p.Asp363His) c.856G>C (p.Asp286His) c.1099G>C (p.Asp367His) | dbSNP |
| 9 | g.99144845G>T | CA374231586 | TGFBR1 | c.880G>T (p.Asp294Tyr) c.892G>T (p.Asp298Tyr) c.661G>T (p.Asp221Tyr) c.649G>T (p.Asp217Tyr) c.*883G>T (n.*883G>T) c.1087G>T (p.Asp363Tyr) c.856G>T (p.Asp286Tyr) c.1099G>T (p.Asp367Tyr) | dbSNP |
| 9 | g.99144846A>C | CA374231593 | TGFBR1 | c.881A>C (p.Asp294Ala) c.893A>C (p.Asp298Ala) c.662A>C (p.Asp221Ala) c.650A>C (p.Asp217Ala) c.*884A>C (n.*884A>C) c.1088A>C (p.Asp363Ala) c.857A>C (p.Asp286Ala) c.1100A>C (p.Asp367Ala) | |
| 9 | g.99144846A>G | CA374231589 | TGFBR1 | c.881A>G (p.Asp294Gly) c.893A>G (p.Asp298Gly) c.662A>G (p.Asp221Gly) c.650A>G (p.Asp217Gly) c.*884A>G (n.*884A>G) c.1088A>G (p.Asp363Gly) c.857A>G (p.Asp286Gly) c.1100A>G (p.Asp367Gly) | |
| 9 | g.99144846A>T | CA374231590 | TGFBR1 | c.881A>T (p.Asp294Val) c.893A>T (p.Asp298Val) c.662A>T (p.Asp221Val) c.650A>T (p.Asp217Val) c.*884A>T (n.*884A>T) c.1088A>T (p.Asp363Val) c.857A>T (p.Asp286Val) c.1100A>T (p.Asp367Val) | |
| 9 | g.99144847T>A | CA374231594 | TGFBR1 | c.882T>A (p.Asp294Glu) c.894T>A (p.Asp298Glu) c.663T>A (p.Asp221Glu) c.651T>A (p.Asp217Glu) c.*885T>A (n.*885T>A) c.1089T>A (p.Asp363Glu) c.858T>A (p.Asp286Glu) c.1101T>A (p.Asp367Glu) | |
| 9 | g.99144847T>C | CA466434730 | TGFBR1 | c.882T>C (p.Asp294=) c.894T>C (p.Asp298=) c.663T>C (p.Asp221=) c.651T>C (p.Asp217=) c.*885T>C (n.*885T>C) c.1089T>C (p.Asp363=) c.858T>C (p.Asp286=) c.1101T>C (p.Asp367=) | |
| 9 | g.99144847T>G | CA374231597 | TGFBR1 | c.882T>G (p.Asp294Glu) c.894T>G (p.Asp298Glu) c.663T>G (p.Asp221Glu) c.651T>G (p.Asp217Glu) c.*885T>G (n.*885T>G) c.1089T>G (p.Asp363Glu) c.858T>G (p.Asp286Glu) c.1101T>G (p.Asp367Glu) | |
| 9 | g.99144848A>C | CA374231598 | TGFBR1 | c.883A>C (p.Thr295Pro) c.895A>C (p.Thr299Pro) c.664A>C (p.Thr222Pro) c.652A>C (p.Thr218Pro) c.*886A>C (n.*886A>C) c.1090A>C (p.Thr364Pro) c.859A>C (p.Thr287Pro) c.1102A>C (p.Thr368Pro) | |
| 9 | g.99144848A>G | CA374231599 | TGFBR1 | c.883A>G (p.Thr295Ala) c.895A>G (p.Thr299Ala) c.664A>G (p.Thr222Ala) c.652A>G (p.Thr218Ala) c.*886A>G (n.*886A>G) c.1090A>G (p.Thr364Ala) c.859A>G (p.Thr287Ala) c.1102A>G (p.Thr368Ala) | |
| 9 | g.99144848A>T | CA374231602 | TGFBR1 | c.883A>T (p.Thr295Ser) c.895A>T (p.Thr299Ser) c.664A>T (p.Thr222Ser) c.652A>T (p.Thr218Ser) c.*886A>T (n.*886A>T) c.1090A>T (p.Thr364Ser) c.859A>T (p.Thr287Ser) c.1102A>T (p.Thr368Ser) | |
| 9 | g.99144849C>A | CA374231603 | TGFBR1 | c.884C>A (p.Thr295Asn) c.896C>A (p.Thr299Asn) c.665C>A (p.Thr222Asn) c.653C>A (p.Thr218Asn) c.*887C>A (n.*887C>A) c.1091C>A (p.Thr364Asn) c.860C>A (p.Thr287Asn) c.1103C>A (p.Thr368Asn) | |
| 9 | g.99144849C= | CA1867262116 | TGFBR1 | c.884C= (p.Thr295=) c.896C= (p.Thr299=) c.665C= (p.Thr222=) c.653C= (p.Thr218=) c.*887C= (n.*887C=) c.1091C= (p.Thr364=) c.860C= (p.Thr287=) c.1103C= (p.Thr368=) | |
| 9 | g.99144849C>G | CA043850 | TGFBR1 | c.884C>G (p.Thr295Ser) c.896C>G (p.Thr299Ser) c.665C>G (p.Thr222Ser) c.653C>G (p.Thr218Ser) c.*887C>G (n.*887C>G) c.1091C>G (p.Thr364Ser) c.860C>G (p.Thr287Ser) c.1103C>G (p.Thr368Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99144849C>T | CA374231610 | TGFBR1 | c.884C>T (p.Thr295Ile) c.896C>T (p.Thr299Ile) c.665C>T (p.Thr222Ile) c.653C>T (p.Thr218Ile) c.*887C>T (n.*887C>T) c.1091C>T (p.Thr364Ile) c.860C>T (p.Thr287Ile) c.1103C>T (p.Thr368Ile) | ClinVar dbSNP |
| 9 | g.99144850C>A | CA466434731 | TGFBR1 | c.885C>A (p.Thr295=) c.897C>A (p.Thr299=) c.666C>A (p.Thr222=) c.654C>A (p.Thr218=) c.*888C>A (n.*888C>A) c.1092C>A (p.Thr364=) c.861C>A (p.Thr287=) c.1104C>A (p.Thr368=) | |
| 9 | g.99144850C= | CA1867262120 | TGFBR1 | c.885C= (p.Thr295=) c.897C= (p.Thr299=) c.666C= (p.Thr222=) c.654C= (p.Thr218=) c.*888C= (n.*888C=) c.1092C= (p.Thr364=) c.861C= (p.Thr287=) c.1104C= (p.Thr368=) | |
| 9 | g.99144850C>G | CA466434732 | TGFBR1 | c.885C>G (p.Thr295=) c.897C>G (p.Thr299=) c.666C>G (p.Thr222=) c.654C>G (p.Thr218=) c.*888C>G (n.*888C>G) c.1092C>G (p.Thr364=) c.861C>G (p.Thr287=) c.1104C>G (p.Thr368=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99144850C>T | CA466434733 | TGFBR1 | c.885C>T (p.Thr295=) c.897C>T (p.Thr299=) c.666C>T (p.Thr222=) c.654C>T (p.Thr218=) c.*888C>T (n.*888C>T) c.1092C>T (p.Thr364=) c.861C>T (p.Thr287=) c.1104C>T (p.Thr368=) | ClinVar |
| 9 | g.99144851A= | CA1867262123 | TGFBR1 | c.886A= (p.Ile296=) c.898A= (p.Ile300=) c.667A= (p.Ile223=) c.655A= (p.Ile219=) c.*889A= (n.*889A=) c.1093A= (p.Ile365=) c.862A= (p.Ile288=) c.1105A= (p.Ile369=) | |
| 9 | g.99144851A>C | CA374231611 | TGFBR1 | c.886A>C (p.Ile296Leu) c.898A>C (p.Ile300Leu) c.667A>C (p.Ile223Leu) c.655A>C (p.Ile219Leu) c.*889A>C (n.*889A>C) c.1093A>C (p.Ile365Leu) c.862A>C (p.Ile288Leu) c.1105A>C (p.Ile369Leu) | |
| 9 | g.99144851A>G | CA324194 | TGFBR1 | c.886A>G (p.Ile296Val) c.898A>G (p.Ile300Val) c.667A>G (p.Ile223Val) c.655A>G (p.Ile219Val) c.*889A>G (n.*889A>G) c.1093A>G (p.Ile365Val) c.862A>G (p.Ile288Val) c.1105A>G (p.Ile369Val) | ClinVar dbSNP COSMIC |
| 9 | g.99144851A>T | CA374231614 | TGFBR1 | c.886A>T (p.Ile296Phe) c.898A>T (p.Ile300Phe) c.667A>T (p.Ile223Phe) c.655A>T (p.Ile219Phe) c.*889A>T (n.*889A>T) c.1093A>T (p.Ile365Phe) c.862A>T (p.Ile288Phe) c.1105A>T (p.Ile369Phe) | |
| 9 | g.99144852T>A | CA374231622 | TGFBR1 | c.887T>A (p.Ile296Asn) c.899T>A (p.Ile300Asn) c.668T>A (p.Ile223Asn) c.656T>A (p.Ile219Asn) c.*890T>A (n.*890T>A) c.1094T>A (p.Ile365Asn) c.863T>A (p.Ile288Asn) c.1106T>A (p.Ile369Asn) | |
| 9 | g.99144852T>C | CA374231618 | TGFBR1 | c.887T>C (p.Ile296Thr) c.899T>C (p.Ile300Thr) c.668T>C (p.Ile223Thr) c.656T>C (p.Ile219Thr) c.*890T>C (n.*890T>C) c.1094T>C (p.Ile365Thr) c.863T>C (p.Ile288Thr) c.1106T>C (p.Ile369Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99144852T>G | CA374231617 | TGFBR1 | c.887T>G (p.Ile296Ser) c.899T>G (p.Ile300Ser) c.668T>G (p.Ile223Ser) c.656T>G (p.Ile219Ser) c.*890T>G (n.*890T>G) c.1094T>G (p.Ile365Ser) c.863T>G (p.Ile288Ser) c.1106T>G (p.Ile369Ser) | |
| 9 | g.99144852T= | CA1867262127 | TGFBR1 | c.887T= (p.Ile296=) c.899T= (p.Ile300=) c.668T= (p.Ile223=) c.656T= (p.Ile219=) c.*890T= (n.*890T=) c.1094T= (p.Ile365=) c.863T= (p.Ile288=) c.1106T= (p.Ile369=) |