| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30671829T>A | CA351807559 | TGFBR2 | c.646T>A (p.Cys216Ser) n.2242T>A c.721T>A (p.Cys241Ser) c.673T>A (p.Cys225Ser) c.598T>A (p.Cys200Ser) c.541T>A (p.Cys181Ser) | gnomAD v4 |
| 3 | g.30671829T>C | CA351807560 | TGFBR2 | c.646T>C (p.Cys216Arg) n.2242T>C c.721T>C (p.Cys241Arg) c.673T>C (p.Cys225Arg) c.598T>C (p.Cys200Arg) c.541T>C (p.Cys181Arg) | |
| 3 | g.30671829T>G | CA351807561 | TGFBR2 | c.646T>G (p.Cys216Gly) n.2242T>G c.721T>G (p.Cys241Gly) c.673T>G (p.Cys225Gly) c.598T>G (p.Cys200Gly) c.541T>G (p.Cys181Gly) | |
| 3 | g.30671830G>A | CA351807562 | TGFBR2 | c.647G>A (p.Cys216Tyr) n.2243G>A c.722G>A (p.Cys241Tyr) c.674G>A (p.Cys225Tyr) c.599G>A (p.Cys200Tyr) c.542G>A (p.Cys181Tyr) | ClinVar dbSNP |
| 3 | g.30671830G>C | CA351807563 | TGFBR2 | c.647G>C (p.Cys216Ser) n.2243G>C c.722G>C (p.Cys241Ser) c.674G>C (p.Cys225Ser) c.599G>C (p.Cys200Ser) c.542G>C (p.Cys181Ser) | |
| 3 | g.30671830G= | CA1354873022 | TGFBR2 | c.647G= (p.Cys216=) n.2243G= c.722G= (p.Cys241=) c.674G= (p.Cys225=) c.599G= (p.Cys200=) c.542G= (p.Cys181=) | |
| 3 | g.30671830G>T | CA351807564 | TGFBR2 | c.647G>T (p.Cys216Phe) n.2243G>T c.722G>T (p.Cys241Phe) c.674G>T (p.Cys225Phe) c.599G>T (p.Cys200Phe) c.542G>T (p.Cys181Phe) | |
| 3 | g.30671831T>A | CA351807565 | TGFBR2 | c.648T>A (p.Cys216Ter) n.2244T>A c.723T>A (p.Cys241Ter) c.675T>A (p.Cys225Ter) c.600T>A (p.Cys200Ter) c.543T>A (p.Cys181Ter) | gnomAD v4 |
| 3 | g.30671831T>C | CA433058252 | TGFBR2 | c.648T>C (p.Cys216=) n.2244T>C c.723T>C (p.Cys241=) c.675T>C (p.Cys225=) c.600T>C (p.Cys200=) c.543T>C (p.Cys181=) | ClinVar dbSNP |
| 3 | g.30671831T>G | CA351807566 | TGFBR2 | c.648T>G (p.Cys216Trp) n.2244T>G c.723T>G (p.Cys241Trp) c.675T>G (p.Cys225Trp) c.600T>G (p.Cys200Trp) c.543T>G (p.Cys181Trp) | |
| 3 | g.30671832G>A | CA351807567 | TGFBR2 | c.649G>A (p.Ala217Thr) n.2245G>A c.724G>A (p.Ala242Thr) c.676G>A (p.Ala226Thr) c.601G>A (p.Ala201Thr) c.544G>A (p.Ala182Thr) | dbSNP |
| 3 | g.30671832G>C | CA049532 | TGFBR2 | c.649G>C (p.Ala217Pro) n.2245G>C c.724G>C (p.Ala242Pro) c.676G>C (p.Ala226Pro) c.601G>C (p.Ala201Pro) c.544G>C (p.Ala182Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671832G= | CA1354873023 | TGFBR2 | c.649G= (p.Ala217=) n.2245G= c.724G= (p.Ala242=) c.676G= (p.Ala226=) c.601G= (p.Ala201=) c.544G= (p.Ala182=) | |
| 3 | g.30671832G>T | CA351807568 | TGFBR2 | c.649G>T (p.Ala217Ser) n.2245G>T c.724G>T (p.Ala242Ser) c.676G>T (p.Ala226Ser) c.601G>T (p.Ala201Ser) c.544G>T (p.Ala182Ser) | |
| 3 | g.30671833C>A | CA351807570 | TGFBR2 | c.650C>A (p.Ala217Asp) n.2246C>A c.725C>A (p.Ala242Asp) c.677C>A (p.Ala226Asp) c.602C>A (p.Ala201Asp) c.545C>A (p.Ala182Asp) | |
| 3 | g.30671833C>G | CA351807571 | TGFBR2 | c.650C>G (p.Ala217Gly) n.2246C>G c.725C>G (p.Ala242Gly) c.677C>G (p.Ala226Gly) c.602C>G (p.Ala201Gly) c.545C>G (p.Ala182Gly) | dbSNP |
| 3 | g.30671833C>T | CA351807569 | TGFBR2 | c.650C>T (p.Ala217Val) n.2246C>T c.725C>T (p.Ala242Val) c.677C>T (p.Ala226Val) c.602C>T (p.Ala201Val) c.545C>T (p.Ala182Val) | dbSNP |
| 3 | g.30671834C>A | CA433058262 | TGFBR2 | c.651C>A (p.Ala217=) n.2247C>A c.726C>A (p.Ala242=) c.678C>A (p.Ala226=) c.603C>A (p.Ala201=) c.546C>A (p.Ala182=) | |
| 3 | g.30671834C>G | CA433058261 | TGFBR2 | c.651C>G (p.Ala217=) n.2247C>G c.726C>G (p.Ala242=) c.678C>G (p.Ala226=) c.603C>G (p.Ala201=) c.546C>G (p.Ala182=) | gnomAD v4 |
| 3 | g.30671834C>T | CA433058259 | TGFBR2 | c.651C>T (p.Ala217=) n.2247C>T c.726C>T (p.Ala242=) c.678C>T (p.Ala226=) c.603C>T (p.Ala201=) c.546C>T (p.Ala182=) | |
| 3 | g.30671835A= | CA1354873024 | TGFBR2 | c.652A= (p.Ile218=) n.2248A= c.727A= (p.Ile243=) c.679A= (p.Ile227=) c.604A= (p.Ile202=) c.547A= (p.Ile183=) | |
| 3 | g.30671835A>C | CA351807572 | TGFBR2 | c.652A>C (p.Ile218Leu) n.2248A>C c.727A>C (p.Ile243Leu) c.679A>C (p.Ile227Leu) c.604A>C (p.Ile202Leu) c.547A>C (p.Ile183Leu) | |
| 3 | g.30671835A>G | CA049566 | TGFBR2 | c.652A>G (p.Ile218Val) n.2248A>G c.727A>G (p.Ile243Val) c.679A>G (p.Ile227Val) c.604A>G (p.Ile202Val) c.547A>G (p.Ile183Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30671835A>T | CA351807573 | TGFBR2 | c.652A>T (p.Ile218Phe) n.2248A>T c.727A>T (p.Ile243Phe) c.679A>T (p.Ile227Phe) c.604A>T (p.Ile202Phe) c.547A>T (p.Ile183Phe) | |
| 3 | g.30671836T>A | CA351807574 | TGFBR2 | c.653T>A (p.Ile218Asn) n.2249T>A c.728T>A (p.Ile243Asn) c.680T>A (p.Ile227Asn) c.605T>A (p.Ile202Asn) c.548T>A (p.Ile183Asn) | |
| 3 | g.30671836T>C | CA351807575 | TGFBR2 | c.653T>C (p.Ile218Thr) n.2249T>C c.728T>C (p.Ile243Thr) c.680T>C (p.Ile227Thr) c.605T>C (p.Ile202Thr) c.548T>C (p.Ile183Thr) | gnomAD v4 |
| 3 | g.30671836T>G | CA351807576 | TGFBR2 | c.653T>G (p.Ile218Ser) n.2249T>G c.728T>G (p.Ile243Ser) c.680T>G (p.Ile227Ser) c.605T>G (p.Ile202Ser) c.548T>G (p.Ile183Ser) | |
| 3 | g.30671837C>A | CA433058267 | TGFBR2 | c.654C>A (p.Ile218=) n.2250C>A c.729C>A (p.Ile243=) c.681C>A (p.Ile227=) c.606C>A (p.Ile202=) c.549C>A (p.Ile183=) | dbSNP |
| 3 | g.30671837C= | CA1354873025 | TGFBR2 | c.654C= (p.Ile218=) n.2250C= c.729C= (p.Ile243=) c.681C= (p.Ile227=) c.606C= (p.Ile202=) c.549C= (p.Ile183=) | |
| 3 | g.30671837C>G | CA351807577 | TGFBR2 | c.654C>G (p.Ile218Met) n.2250C>G c.729C>G (p.Ile243Met) c.681C>G (p.Ile227Met) c.606C>G (p.Ile202Met) c.549C>G (p.Ile183Met) | COSMIC COSMIC |
| 3 | g.30671837C>T | CA433058268 | TGFBR2 | c.654C>T (p.Ile218=) n.2250C>T c.729C>T (p.Ile243=) c.681C>T (p.Ile227=) c.606C>T (p.Ile202=) c.549C>T (p.Ile183=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30671838A>C | CA351807578 | TGFBR2 | c.655A>C (p.Ile219Leu) n.2251A>C c.730A>C (p.Ile244Leu) c.682A>C (p.Ile228Leu) c.607A>C (p.Ile203Leu) c.550A>C (p.Ile184Leu) | |
| 3 | g.30671838A>G | CA351807579 | TGFBR2 | c.655A>G (p.Ile219Val) n.2251A>G c.730A>G (p.Ile244Val) c.682A>G (p.Ile228Val) c.607A>G (p.Ile203Val) c.550A>G (p.Ile184Val) | gnomAD v4 |
| 3 | g.30671838A>T | CA351807580 | TGFBR2 | c.655A>T (p.Ile219Phe) n.2251A>T c.730A>T (p.Ile244Phe) c.682A>T (p.Ile228Phe) c.607A>T (p.Ile203Phe) c.550A>T (p.Ile184Phe) | |
| 3 | g.30671839T>A | CA351807581 | TGFBR2 | c.656T>A (p.Ile219Asn) n.2252T>A c.731T>A (p.Ile244Asn) c.683T>A (p.Ile228Asn) c.608T>A (p.Ile203Asn) c.551T>A (p.Ile184Asn) | ClinVar dbSNP |
| 3 | g.30671839T>C | CA351807582 | TGFBR2 | c.656T>C (p.Ile219Thr) n.2252T>C c.731T>C (p.Ile244Thr) c.683T>C (p.Ile228Thr) c.608T>C (p.Ile203Thr) c.551T>C (p.Ile184Thr) | |
| 3 | g.30671839T>G | CA351807583 | TGFBR2 | c.656T>G (p.Ile219Ser) n.2252T>G c.731T>G (p.Ile244Ser) c.683T>G (p.Ile228Ser) c.608T>G (p.Ile203Ser) c.551T>G (p.Ile184Ser) | |
| 3 | g.30671840C>A | CA433058275 | TGFBR2 | c.657C>A (p.Ile219=) n.2253C>A c.732C>A (p.Ile244=) c.684C>A (p.Ile228=) c.609C>A (p.Ile203=) c.552C>A (p.Ile184=) | |
| 3 | g.30671840C>G | CA351807584 | TGFBR2 | c.657C>G (p.Ile219Met) n.2253C>G c.732C>G (p.Ile244Met) c.684C>G (p.Ile228Met) c.609C>G (p.Ile203Met) c.552C>G (p.Ile184Met) | |
| 3 | g.30671840C>T | CA433058276 | TGFBR2 | c.657C>T (p.Ile219=) n.2253C>T c.732C>T (p.Ile244=) c.684C>T (p.Ile228=) c.609C>T (p.Ile203=) c.552C>T (p.Ile184=) | |
| 3 | g.30671841C>A | CA351807586 | TGFBR2 | c.658C>A (p.Leu220Met) n.2254C>A c.733C>A (p.Leu245Met) c.685C>A (p.Leu229Met) c.610C>A (p.Leu204Met) c.553C>A (p.Leu185Met) | |
| 3 | g.30671841C= | CA1354873026 | TGFBR2 | c.658C= (p.Leu220=) n.2254C= c.733C= (p.Leu245=) c.685C= (p.Leu229=) c.610C= (p.Leu204=) c.553C= (p.Leu185=) | |
| 3 | g.30671841C>G | CA351807585 | TGFBR2 | c.658C>G (p.Leu220Val) n.2254C>G c.733C>G (p.Leu245Val) c.685C>G (p.Leu229Val) c.610C>G (p.Leu204Val) c.553C>G (p.Leu185Val) | |
| 3 | g.30671841C>T | CA433058278 | TGFBR2 | c.658C>T (p.Leu220=) n.2254C>T c.733C>T (p.Leu245=) c.685C>T (p.Leu229=) c.610C>T (p.Leu204=) c.553C>T (p.Leu185=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671842T>A | CA351807587 | TGFBR2 | c.659T>A (p.Leu220Gln) n.2255T>A c.734T>A (p.Leu245Gln) c.686T>A (p.Leu229Gln) c.611T>A (p.Leu204Gln) c.554T>A (p.Leu185Gln) | |
| 3 | g.30671842T>C | CA351807588 | TGFBR2 | c.659T>C (p.Leu220Pro) n.2255T>C c.734T>C (p.Leu245Pro) c.686T>C (p.Leu229Pro) c.611T>C (p.Leu204Pro) c.554T>C (p.Leu185Pro) | ClinVar dbSNP |
| 3 | g.30671842T>G | CA351807589 | TGFBR2 | c.659T>G (p.Leu220Arg) n.2255T>G c.734T>G (p.Leu245Arg) c.686T>G (p.Leu229Arg) c.611T>G (p.Leu204Arg) c.554T>G (p.Leu185Arg) | |
| 3 | g.30671842T= | CA1354873027 | TGFBR2 | c.659T= (p.Leu220=) n.2255T= c.734T= (p.Leu245=) c.686T= (p.Leu229=) c.611T= (p.Leu204=) c.554T= (p.Leu185=) | |
| 3 | g.30671843G>A | CA433058283 | TGFBR2 | c.660G>A (p.Leu220=) n.2256G>A c.735G>A (p.Leu245=) c.687G>A (p.Leu229=) c.612G>A (p.Leu204=) c.555G>A (p.Leu185=) | dbSNP |
| 3 | g.30671843G>C | CA433058284 | TGFBR2 | c.660G>C (p.Leu220=) n.2256G>C c.735G>C (p.Leu245=) c.687G>C (p.Leu229=) c.612G>C (p.Leu204=) c.555G>C (p.Leu185=) | |
| 3 | g.30671843G>T | CA433058285 | TGFBR2 | c.660G>T (p.Leu220=) n.2256G>T c.735G>T (p.Leu245=) c.687G>T (p.Leu229=) c.612G>T (p.Leu204=) c.555G>T (p.Leu185=) | |
| 3 | g.30671844G>A | CA351807590 | TGFBR2 | c.661G>A (p.Glu221Lys) n.2257G>A c.736G>A (p.Glu246Lys) c.688G>A (p.Glu230Lys) c.613G>A (p.Glu205Lys) c.556G>A (p.Glu186Lys) | dbSNP |
| 3 | g.30671844G>C | CA351807591 | TGFBR2 | c.661G>C (p.Glu221Gln) n.2257G>C c.736G>C (p.Glu246Gln) c.688G>C (p.Glu230Gln) c.613G>C (p.Glu205Gln) c.556G>C (p.Glu186Gln) | dbSNP |
| 3 | g.30671844G>T | CA351807592 | TGFBR2 | c.661G>T (p.Glu221Ter) n.2257G>T c.736G>T (p.Glu246Ter) c.688G>T (p.Glu230Ter) c.613G>T (p.Glu205Ter) c.556G>T (p.Glu186Ter) | |
| 3 | g.30671845A>C | CA351807595 | TGFBR2 | c.662A>C (p.Glu221Ala) n.2258A>C c.737A>C (p.Glu246Ala) c.689A>C (p.Glu230Ala) c.614A>C (p.Glu205Ala) c.557A>C (p.Glu186Ala) | |
| 3 | g.30671845A>G | CA351807593 | TGFBR2 | c.662A>G (p.Glu221Gly) n.2258A>G c.737A>G (p.Glu246Gly) c.689A>G (p.Glu230Gly) c.614A>G (p.Glu205Gly) c.557A>G (p.Glu186Gly) | |
| 3 | g.30671845A>T | CA351807594 | TGFBR2 | c.662A>T (p.Glu221Val) n.2258A>T c.737A>T (p.Glu246Val) c.689A>T (p.Glu230Val) c.614A>T (p.Glu205Val) c.557A>T (p.Glu186Val) | |
| 3 | g.30671846A>C | CA351807596 | TGFBR2 | c.663A>C (p.Glu221Asp) n.2259A>C c.738A>C (p.Glu246Asp) c.690A>C (p.Glu230Asp) c.615A>C (p.Glu205Asp) c.558A>C (p.Glu186Asp) | |
| 3 | g.30671846A>G | CA433058291 | TGFBR2 | c.663A>G (p.Glu221=) n.2259A>G c.738A>G (p.Glu246=) c.690A>G (p.Glu230=) c.615A>G (p.Glu205=) c.558A>G (p.Glu186=) | |
| 3 | g.30671846A>T | CA351807597 | TGFBR2 | c.663A>T (p.Glu221Asp) n.2259A>T c.738A>T (p.Glu246Asp) c.690A>T (p.Glu230Asp) c.615A>T (p.Glu205Asp) c.558A>T (p.Glu186Asp) | |
| 3 | g.30671847G>A | CA351807598 | TGFBR2 | c.664G>A (p.Asp222Asn) n.2260G>A c.739G>A (p.Asp247Asn) c.691G>A (p.Asp231Asn) c.616G>A (p.Asp206Asn) c.559G>A (p.Asp187Asn) | dbSNP |
| 3 | g.30671847G>C | CA351807599 | TGFBR2 | c.664G>C (p.Asp222His) n.2260G>C c.739G>C (p.Asp247His) c.691G>C (p.Asp231His) c.616G>C (p.Asp206His) c.559G>C (p.Asp187His) | dbSNP |
| 3 | g.30671847G>T | CA351807600 | TGFBR2 | c.664G>T (p.Asp222Tyr) n.2260G>T c.739G>T (p.Asp247Tyr) c.691G>T (p.Asp231Tyr) c.616G>T (p.Asp206Tyr) c.559G>T (p.Asp187Tyr) | |
| 3 | g.30671848A>C | CA351807601 | TGFBR2 | c.665A>C (p.Asp222Ala) n.2261A>C c.740A>C (p.Asp247Ala) c.692A>C (p.Asp231Ala) c.617A>C (p.Asp206Ala) c.560A>C (p.Asp187Ala) | |
| 3 | g.30671848A>G | CA351807603 | TGFBR2 | c.665A>G (p.Asp222Gly) n.2261A>G c.740A>G (p.Asp247Gly) c.692A>G (p.Asp231Gly) c.617A>G (p.Asp206Gly) c.560A>G (p.Asp187Gly) | COSMIC COSMIC |
| 3 | g.30671848A>T | CA351807602 | TGFBR2 | c.665A>T (p.Asp222Val) n.2261A>T c.740A>T (p.Asp247Val) c.692A>T (p.Asp231Val) c.617A>T (p.Asp206Val) c.560A>T (p.Asp187Val) | |
| 3 | g.30671849T>A | CA351807604 | TGFBR2 | c.666T>A (p.Asp222Glu) n.2262T>A c.741T>A (p.Asp247Glu) c.693T>A (p.Asp231Glu) c.618T>A (p.Asp206Glu) c.561T>A (p.Asp187Glu) | |
| 3 | g.30671849T>C | CA049576 | TGFBR2 | c.666T>C (p.Asp222=) n.2262T>C c.741T>C (p.Asp247=) c.693T>C (p.Asp231=) c.618T>C (p.Asp206=) c.561T>C (p.Asp187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671849T>G | CA351807605 | TGFBR2 | c.666T>G (p.Asp222Glu) n.2262T>G c.741T>G (p.Asp247Glu) c.693T>G (p.Asp231Glu) c.618T>G (p.Asp206Glu) c.561T>G (p.Asp187Glu) | |
| 3 | g.30671849T= | CA1354873028 | TGFBR2 | c.666T= (p.Asp222=) n.2262T= c.741T= (p.Asp247=) c.693T= (p.Asp231=) c.618T= (p.Asp206=) c.561T= (p.Asp187=) | |
| 3 | g.30671850G>A | CA049589 | TGFBR2 | c.667G>A (p.Asp223Asn) n.2263G>A c.742G>A (p.Asp248Asn) c.694G>A (p.Asp232Asn) c.619G>A (p.Asp207Asn) c.562G>A (p.Asp188Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30671850G>C | CA351807606 | TGFBR2 | c.667G>C (p.Asp223His) n.2263G>C c.742G>C (p.Asp248His) c.694G>C (p.Asp232His) c.619G>C (p.Asp207His) c.562G>C (p.Asp188His) | dbSNP |
| 3 | g.30671850G= | CA1354873029 | TGFBR2 | c.667G= (p.Asp223=) n.2263G= c.742G= (p.Asp248=) c.694G= (p.Asp232=) c.619G= (p.Asp207=) c.562G= (p.Asp188=) | |
| 3 | g.30671850G>T | CA351807607 | TGFBR2 | c.667G>T (p.Asp223Tyr) n.2263G>T c.742G>T (p.Asp248Tyr) c.694G>T (p.Asp232Tyr) c.619G>T (p.Asp207Tyr) c.562G>T (p.Asp188Tyr) | gnomAD v4 |
| 3 | g.30671851A>C | CA351807608 | TGFBR2 | c.668A>C (p.Asp223Ala) n.2264A>C c.743A>C (p.Asp248Ala) c.695A>C (p.Asp232Ala) c.620A>C (p.Asp207Ala) c.563A>C (p.Asp188Ala) | |
| 3 | g.30671851A>G | CA351807609 | TGFBR2 | c.668A>G (p.Asp223Gly) n.2264A>G c.743A>G (p.Asp248Gly) c.695A>G (p.Asp232Gly) c.620A>G (p.Asp207Gly) c.563A>G (p.Asp188Gly) | gnomAD v4 |
| 3 | g.30671851A>T | CA351807610 | TGFBR2 | c.668A>T (p.Asp223Val) n.2264A>T c.743A>T (p.Asp248Val) c.695A>T (p.Asp232Val) c.620A>T (p.Asp207Val) c.563A>T (p.Asp188Val) | |
| 3 | g.30671851_30671852insTGATGACAGATATGGCAACT | CA2702373505 | TGFBR2 | c.668_669insTGATGACAGATATGGCAACT (p.Arg224AspfsTer?) n.2264_2265insTGATGACAGATATGGCAACT c.743_744insTGATGACAGATATGGCAACT (p.Arg249AspfsTer?) c.695_696insTGATGACAGATATGGCAACT (p.Arg233AspfsTer?) c.620_621insTGATGACAGATATGGCAACT (p.Arg208AspfsTer?) c.563_564insTGATGACAGATATGGCAACT (p.Arg189AspfsTer?) | dbSNP |
| 3 | g.30671852C>A | CA351807611 | TGFBR2 | c.669C>A (p.Asp223Glu) n.2265C>A c.744C>A (p.Asp248Glu) c.696C>A (p.Asp232Glu) c.621C>A (p.Asp207Glu) c.564C>A (p.Asp188Glu) | gnomAD v4 |
| 3 | g.30671852C= | CA1354873030 | TGFBR2 | c.669C= (p.Asp223=) n.2265C= c.744C= (p.Asp248=) c.696C= (p.Asp232=) c.621C= (p.Asp207=) c.564C= (p.Asp188=) | |
| 3 | g.30671852C>G | CA351807612 | TGFBR2 | c.669C>G (p.Asp223Glu) n.2265C>G c.744C>G (p.Asp248Glu) c.696C>G (p.Asp232Glu) c.621C>G (p.Asp207Glu) c.564C>G (p.Asp188Glu) | dbSNP |
| 3 | g.30671852C>T | CA71527948 | TGFBR2 | c.669C>T (p.Asp223=) n.2265C>T c.744C>T (p.Asp248=) c.696C>T (p.Asp232=) c.621C>T (p.Asp207=) c.564C>T (p.Asp188=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30671853C>A | CA351807614 | TGFBR2 | c.670C>A (p.Arg224Ser) n.2266C>A c.745C>A (p.Arg249Ser) c.697C>A (p.Arg233Ser) c.622C>A (p.Arg208Ser) c.565C>A (p.Arg189Ser) | |
| 3 | g.30671853C= | CA1354873031 | TGFBR2 | c.670C= (p.Arg224=) n.2266C= c.745C= (p.Arg249=) c.697C= (p.Arg233=) c.622C= (p.Arg208=) c.565C= (p.Arg189=) | |
| 3 | g.30671853C>G | CA351807613 | TGFBR2 | c.670C>G (p.Arg224Gly) n.2266C>G c.745C>G (p.Arg249Gly) c.697C>G (p.Arg233Gly) c.622C>G (p.Arg208Gly) c.565C>G (p.Arg189Gly) | |
| 3 | g.30671853C>T | CA049609 | TGFBR2 | c.670C>T (p.Arg224Cys) n.2266C>T c.745C>T (p.Arg249Cys) c.697C>T (p.Arg233Cys) c.622C>T (p.Arg208Cys) c.565C>T (p.Arg189Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.30671854G>A | CA049628 | TGFBR2 | c.671G>A (p.Arg224His) n.2267G>A c.746G>A (p.Arg249His) c.698G>A (p.Arg233His) c.623G>A (p.Arg208His) c.566G>A (p.Arg189His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671854G>C | CA351807615 | TGFBR2 | c.671G>C (p.Arg224Pro) n.2267G>C c.746G>C (p.Arg249Pro) c.698G>C (p.Arg233Pro) c.623G>C (p.Arg208Pro) c.566G>C (p.Arg189Pro) | dbSNP |
| 3 | g.30671854G= | CA1354873032 | TGFBR2 | c.671G= (p.Arg224=) n.2267G= c.746G= (p.Arg249=) c.698G= (p.Arg233=) c.623G= (p.Arg208=) c.566G= (p.Arg189=) | |
| 3 | g.30671854G>T | CA351807616 | TGFBR2 | c.671G>T (p.Arg224Leu) n.2267G>T c.746G>T (p.Arg249Leu) c.698G>T (p.Arg233Leu) c.623G>T (p.Arg208Leu) c.566G>T (p.Arg189Leu) | ClinVar dbSNP |
| 3 | g.30671855C>A | CA433058309 | TGFBR2 | c.672C>A (p.Arg224=) n.2268C>A c.747C>A (p.Arg249=) c.699C>A (p.Arg233=) c.624C>A (p.Arg208=) c.567C>A (p.Arg189=) | dbSNP |
| 3 | g.30671855C>G | CA433058307 | TGFBR2 | c.672C>G (p.Arg224=) n.2268C>G c.747C>G (p.Arg249=) c.699C>G (p.Arg233=) c.624C>G (p.Arg208=) c.567C>G (p.Arg189=) | |
| 3 | g.30671855C>T | CA433058306 | TGFBR2 | c.672C>T (p.Arg224=) n.2268C>T c.747C>T (p.Arg249=) c.699C>T (p.Arg233=) c.624C>T (p.Arg208=) c.567C>T (p.Arg189=) | |
| 3 | g.30671856T>A | CA351807617 | TGFBR2 | c.673T>A (p.Ser225Thr) n.2269T>A c.748T>A (p.Ser250Thr) c.700T>A (p.Ser234Thr) c.625T>A (p.Ser209Thr) c.568T>A (p.Ser190Thr) | |
| 3 | g.30671856T>C | CA351807618 | TGFBR2 | c.673T>C (p.Ser225Pro) n.2269T>C c.748T>C (p.Ser250Pro) c.700T>C (p.Ser234Pro) c.625T>C (p.Ser209Pro) c.568T>C (p.Ser190Pro) | ClinVar dbSNP |
| 3 | g.30671856T>G | CA351807619 | TGFBR2 | c.673T>G (p.Ser225Ala) n.2269T>G c.748T>G (p.Ser250Ala) c.700T>G (p.Ser234Ala) c.625T>G (p.Ser209Ala) c.568T>G (p.Ser190Ala) | |
| 3 | g.30671856T= | CA1354873033 | TGFBR2 | c.673T= (p.Ser225=) n.2269T= c.748T= (p.Ser250=) c.700T= (p.Ser234=) c.625T= (p.Ser209=) c.568T= (p.Ser190=) | |
| 3 | g.30671857C>A | CA351807620 | TGFBR2 | c.674C>A (p.Ser225Tyr) n.2270C>A c.749C>A (p.Ser250Tyr) c.701C>A (p.Ser234Tyr) c.626C>A (p.Ser209Tyr) c.569C>A (p.Ser190Tyr) | dbSNP |
| 3 | g.30671857C>G | CA351807621 | TGFBR2 | c.674C>G (p.Ser225Cys) n.2270C>G c.749C>G (p.Ser250Cys) c.701C>G (p.Ser234Cys) c.626C>G (p.Ser209Cys) c.569C>G (p.Ser190Cys) | |
| 3 | g.30671857C>T | CA351807622 | TGFBR2 | c.674C>T (p.Ser225Phe) n.2270C>T c.749C>T (p.Ser250Phe) c.701C>T (p.Ser234Phe) c.626C>T (p.Ser209Phe) c.569C>T (p.Ser190Phe) | |
| 3 | g.30671858T>A | CA433058319 | TGFBR2 | c.675T>A (p.Ser225=) n.2271T>A c.750T>A (p.Ser250=) c.702T>A (p.Ser234=) c.627T>A (p.Ser209=) c.570T>A (p.Ser190=) | |
| 3 | g.30671858T>C | CA049646 | TGFBR2 | c.675T>C (p.Ser225=) n.2271T>C c.750T>C (p.Ser250=) c.702T>C (p.Ser234=) c.627T>C (p.Ser209=) c.570T>C (p.Ser190=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30671858T>G | CA433058317 | TGFBR2 | c.675T>G (p.Ser225=) n.2271T>G c.750T>G (p.Ser250=) c.702T>G (p.Ser234=) c.627T>G (p.Ser209=) c.570T>G (p.Ser190=) | |
| 3 | g.30671858T= | CA1354873034 | TGFBR2 | c.675T= (p.Ser225=) n.2271T= c.750T= (p.Ser250=) c.702T= (p.Ser234=) c.627T= (p.Ser209=) c.570T= (p.Ser190=) | |
| 3 | g.30671859G>A | CA351807623 | TGFBR2 | c.676G>A (p.Asp226Asn) n.2272G>A c.751G>A (p.Asp251Asn) c.703G>A (p.Asp235Asn) c.628G>A (p.Asp210Asn) c.571G>A (p.Asp191Asn) | |
| 3 | g.30671859G>C | CA351807624 | TGFBR2 | c.676G>C (p.Asp226His) n.2272G>C c.751G>C (p.Asp251His) c.703G>C (p.Asp235His) c.628G>C (p.Asp210His) c.571G>C (p.Asp191His) | dbSNP |
| 3 | g.30671859G>T | CA351807625 | TGFBR2 | c.676G>T (p.Asp226Tyr) n.2272G>T c.751G>T (p.Asp251Tyr) c.703G>T (p.Asp235Tyr) c.628G>T (p.Asp210Tyr) c.571G>T (p.Asp191Tyr) | |
| 3 | g.30671860A>C | CA351807627 | TGFBR2 | c.677A>C (p.Asp226Ala) n.2273A>C c.752A>C (p.Asp251Ala) c.704A>C (p.Asp235Ala) c.629A>C (p.Asp210Ala) c.572A>C (p.Asp191Ala) | |
| 3 | g.30671860A>G | CA351807628 | TGFBR2 | c.677A>G (p.Asp226Gly) n.2273A>G c.752A>G (p.Asp251Gly) c.704A>G (p.Asp235Gly) c.629A>G (p.Asp210Gly) c.572A>G (p.Asp191Gly) | |
| 3 | g.30671860A>T | CA351807626 | TGFBR2 | c.677A>T (p.Asp226Val) n.2273A>T c.752A>T (p.Asp251Val) c.704A>T (p.Asp235Val) c.629A>T (p.Asp210Val) c.572A>T (p.Asp191Val) | dbSNP |
| 3 | g.30671861C>A | CA351807630 | TGFBR2 | c.678C>A (p.Asp226Glu) n.2274C>A c.753C>A (p.Asp251Glu) c.705C>A (p.Asp235Glu) c.630C>A (p.Asp210Glu) c.573C>A (p.Asp191Glu) | |
| 3 | g.30671861C= | CA1354873035 | TGFBR2 | c.678C= (p.Asp226=) n.2274C= c.753C= (p.Asp251=) c.705C= (p.Asp235=) c.630C= (p.Asp210=) c.573C= (p.Asp191=) | |
| 3 | g.30671861C>G | CA351807629 | TGFBR2 | c.678C>G (p.Asp226Glu) n.2274C>G c.753C>G (p.Asp251Glu) c.705C>G (p.Asp235Glu) c.630C>G (p.Asp210Glu) c.573C>G (p.Asp191Glu) | |
| 3 | g.30671861C>T | CA049663 | TGFBR2 | c.678C>T (p.Asp226=) n.2274C>T c.753C>T (p.Asp251=) c.705C>T (p.Asp235=) c.630C>T (p.Asp210=) c.573C>T (p.Asp191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671862A= | CA1354873036 | TGFBR2 | c.679A= (p.Ile227=) n.2275A= c.754A= (p.Ile252=) c.706A= (p.Ile236=) c.631A= (p.Ile211=) c.574A= (p.Ile192=) | |
| 3 | g.30671862A>C | CA351807631 | TGFBR2 | c.679A>C (p.Ile227Leu) n.2275A>C c.754A>C (p.Ile252Leu) c.706A>C (p.Ile236Leu) c.631A>C (p.Ile211Leu) c.574A>C (p.Ile192Leu) | |
| 3 | g.30671862A>G | CA71527972 | TGFBR2 | c.679A>G (p.Ile227Val) n.2275A>G c.754A>G (p.Ile252Val) c.706A>G (p.Ile236Val) c.631A>G (p.Ile211Val) c.574A>G (p.Ile192Val) | dbSNP gnomAD v4 |
| 3 | g.30671862A>T | CA351807632 | TGFBR2 | c.679A>T (p.Ile227Phe) n.2275A>T c.754A>T (p.Ile252Phe) c.706A>T (p.Ile236Phe) c.631A>T (p.Ile211Phe) c.574A>T (p.Ile192Phe) | |
| 3 | g.30671863T>A | CA351807633 | TGFBR2 | c.680T>A (p.Ile227Asn) n.2276T>A c.755T>A (p.Ile252Asn) c.707T>A (p.Ile236Asn) c.632T>A (p.Ile211Asn) c.575T>A (p.Ile192Asn) | |
| 3 | g.30671863T>C | CA351807635 | TGFBR2 | c.680T>C (p.Ile227Thr) n.2276T>C c.755T>C (p.Ile252Thr) c.707T>C (p.Ile236Thr) c.632T>C (p.Ile211Thr) c.575T>C (p.Ile192Thr) | |
| 3 | g.30671863T>G | CA351807634 | TGFBR2 | c.680T>G (p.Ile227Ser) n.2276T>G c.755T>G (p.Ile252Ser) c.707T>G (p.Ile236Ser) c.632T>G (p.Ile211Ser) c.575T>G (p.Ile192Ser) | |
| 3 | g.30671864C>A | CA433058330 | TGFBR2 | c.681C>A (p.Ile227=) n.2277C>A c.756C>A (p.Ile252=) c.708C>A (p.Ile236=) c.633C>A (p.Ile211=) c.576C>A (p.Ile192=) | |
| 3 | g.30671864C>G | CA351807636 | TGFBR2 | c.681C>G (p.Ile227Met) n.2277C>G c.756C>G (p.Ile252Met) c.708C>G (p.Ile236Met) c.633C>G (p.Ile211Met) c.576C>G (p.Ile192Met) | |
| 3 | g.30671864C>T | CA433058341 | TGFBR2 | c.681C>T (p.Ile227=) n.2277C>T c.756C>T (p.Ile252=) c.708C>T (p.Ile236=) c.633C>T (p.Ile211=) c.576C>T (p.Ile192=) | dbSNP |
| 3 | g.30671865A>C | CA351807639 | TGFBR2 | c.682A>C (p.Ser228Arg) n.2278A>C c.757A>C (p.Ser253Arg) c.709A>C (p.Ser237Arg) c.634A>C (p.Ser212Arg) c.577A>C (p.Ser193Arg) | |
| 3 | g.30671865A>G | CA351807637 | TGFBR2 | c.682A>G (p.Ser228Gly) n.2278A>G c.757A>G (p.Ser253Gly) c.709A>G (p.Ser237Gly) c.634A>G (p.Ser212Gly) c.577A>G (p.Ser193Gly) | |
| 3 | g.30671865A>T | CA351807638 | TGFBR2 | c.682A>T (p.Ser228Cys) n.2278A>T c.757A>T (p.Ser253Cys) c.709A>T (p.Ser237Cys) c.634A>T (p.Ser212Cys) c.577A>T (p.Ser193Cys) | |
| 3 | g.30671866G>A | CA351807640 | TGFBR2 | c.683G>A (p.Ser228Asn) n.2279G>A c.758G>A (p.Ser253Asn) c.710G>A (p.Ser237Asn) c.635G>A (p.Ser212Asn) c.578G>A (p.Ser193Asn) | dbSNP |
| 3 | g.30671866G>C | CA351807641 | TGFBR2 | c.683G>C (p.Ser228Thr) n.2279G>C c.758G>C (p.Ser253Thr) c.710G>C (p.Ser237Thr) c.635G>C (p.Ser212Thr) c.578G>C (p.Ser193Thr) | dbSNP |
| 3 | g.30671866G= | CA1354873037 | TGFBR2 | c.683G= (p.Ser228=) n.2279G= c.758G= (p.Ser253=) c.710G= (p.Ser237=) c.635G= (p.Ser212=) c.578G= (p.Ser193=) | |
| 3 | g.30671866G>T | CA351807642 | TGFBR2 | c.683G>T (p.Ser228Ile) n.2279G>T c.758G>T (p.Ser253Ile) c.710G>T (p.Ser237Ile) c.635G>T (p.Ser212Ile) c.578G>T (p.Ser193Ile) | ClinVar dbSNP |
| 3 | g.30671867C>A | CA351807643 | TGFBR2 | c.684C>A (p.Ser228Arg) n.2280C>A c.759C>A (p.Ser253Arg) c.711C>A (p.Ser237Arg) c.636C>A (p.Ser212Arg) c.579C>A (p.Ser193Arg) | |
| 3 | g.30671867C>G | CA351807644 | TGFBR2 | c.684C>G (p.Ser228Arg) n.2280C>G c.759C>G (p.Ser253Arg) c.711C>G (p.Ser237Arg) c.636C>G (p.Ser212Arg) c.579C>G (p.Ser193Arg) | dbSNP |
| 3 | g.30671867C>T | CA433058349 | TGFBR2 | c.684C>T (p.Ser228=) n.2280C>T c.759C>T (p.Ser253=) c.711C>T (p.Ser237=) c.636C>T (p.Ser212=) c.579C>T (p.Ser193=) | |
| 3 | g.30671868T>A | CA049673 | TGFBR2 | c.685T>A (p.Ser229Thr) n.2281T>A c.760T>A (p.Ser254Thr) c.712T>A (p.Ser238Thr) c.637T>A (p.Ser213Thr) c.580T>A (p.Ser194Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30671868T>C | CA351807645 | TGFBR2 | c.685T>C (p.Ser229Pro) n.2281T>C c.760T>C (p.Ser254Pro) c.712T>C (p.Ser238Pro) c.637T>C (p.Ser213Pro) c.580T>C (p.Ser194Pro) | |
| 3 | g.30671868T>G | CA351807646 | TGFBR2 | c.685T>G (p.Ser229Ala) n.2281T>G c.760T>G (p.Ser254Ala) c.712T>G (p.Ser238Ala) c.637T>G (p.Ser213Ala) c.580T>G (p.Ser194Ala) | |
| 3 | g.30671868T= | CA1354873038 | TGFBR2 | c.685T= (p.Ser229=) n.2281T= c.760T= (p.Ser254=) c.712T= (p.Ser238=) c.637T= (p.Ser213=) c.580T= (p.Ser194=) | |
| 3 | g.30671869C>A | CA351807647 | TGFBR2 | c.686C>A (p.Ser229Tyr) n.2282C>A c.761C>A (p.Ser254Tyr) c.713C>A (p.Ser238Tyr) c.638C>A (p.Ser213Tyr) c.581C>A (p.Ser194Tyr) | |
| 3 | g.30671869C>G | CA351807648 | TGFBR2 | c.686C>G (p.Ser229Cys) n.2282C>G c.761C>G (p.Ser254Cys) c.713C>G (p.Ser238Cys) c.638C>G (p.Ser213Cys) c.581C>G (p.Ser194Cys) | gnomAD v4 |
| 3 | g.30671869C>T | CA351807649 | TGFBR2 | c.686C>T (p.Ser229Phe) n.2282C>T c.761C>T (p.Ser254Phe) c.713C>T (p.Ser238Phe) c.638C>T (p.Ser213Phe) c.581C>T (p.Ser194Phe) | ClinVar |
| 3 | g.30671870C>A | CA433058357 | TGFBR2 | c.687C>A (p.Ser229=) n.2283C>A c.762C>A (p.Ser254=) c.714C>A (p.Ser238=) c.639C>A (p.Ser213=) c.582C>A (p.Ser194=) | |
| 3 | g.30671870C>G | CA433058358 | TGFBR2 | c.687C>G (p.Ser229=) n.2283C>G c.762C>G (p.Ser254=) c.714C>G (p.Ser238=) c.639C>G (p.Ser213=) c.582C>G (p.Ser194=) | |
| 3 | g.30671870C>T | CA433058359 | TGFBR2 | c.687C>T (p.Ser229=) n.2283C>T c.762C>T (p.Ser254=) c.714C>T (p.Ser238=) c.639C>T (p.Ser213=) c.582C>T (p.Ser194=) | |
| 3 | g.30671871A>C | CA351807650 | TGFBR2 | c.688A>C (p.Thr230Pro) n.2284A>C c.763A>C (p.Thr255Pro) c.715A>C (p.Thr239Pro) c.640A>C (p.Thr214Pro) c.583A>C (p.Thr195Pro) | |
| 3 | g.30671871A>G | CA351807652 | TGFBR2 | c.688A>G (p.Thr230Ala) n.2284A>G c.763A>G (p.Thr255Ala) c.715A>G (p.Thr239Ala) c.640A>G (p.Thr214Ala) c.583A>G (p.Thr195Ala) | |
| 3 | g.30671871A>T | CA351807651 | TGFBR2 | c.688A>T (p.Thr230Ser) n.2284A>T c.763A>T (p.Thr255Ser) c.715A>T (p.Thr239Ser) c.640A>T (p.Thr214Ser) c.583A>T (p.Thr195Ser) | dbSNP |
| 3 | g.30671872C>A | CA351807653 | TGFBR2 | c.689C>A (p.Thr230Lys) n.2285C>A c.764C>A (p.Thr255Lys) c.716C>A (p.Thr239Lys) c.641C>A (p.Thr214Lys) c.584C>A (p.Thr195Lys) | |
| 3 | g.30671872C= | CA1354873039 | TGFBR2 | c.689C= (p.Thr230=) n.2285C= c.764C= (p.Thr255=) c.716C= (p.Thr239=) c.641C= (p.Thr214=) c.584C= (p.Thr195=) | |
| 3 | g.30671872C>G | CA351807654 | TGFBR2 | c.689C>G (p.Thr230Arg) n.2285C>G c.764C>G (p.Thr255Arg) c.716C>G (p.Thr239Arg) c.641C>G (p.Thr214Arg) c.584C>G (p.Thr195Arg) | |
| 3 | g.30671872C>T | CA049688 | TGFBR2 | c.689C>T (p.Thr230Met) n.2285C>T c.764C>T (p.Thr255Met) c.716C>T (p.Thr239Met) c.641C>T (p.Thr214Met) c.584C>T (p.Thr195Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671873G>A | CA049703 | TGFBR2 | c.690G>A (p.Thr230=) n.2286G>A c.765G>A (p.Thr255=) c.717G>A (p.Thr239=) c.642G>A (p.Thr214=) c.585G>A (p.Thr195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671873G>C | CA433058368 | TGFBR2 | c.690G>C (p.Thr230=) n.2286G>C c.765G>C (p.Thr255=) c.717G>C (p.Thr239=) c.642G>C (p.Thr214=) c.585G>C (p.Thr195=) | gnomAD v4 |
| 3 | g.30671873G= | CA1354873040 | TGFBR2 | c.690G= (p.Thr230=) n.2286G= c.765G= (p.Thr255=) c.717G= (p.Thr239=) c.642G= (p.Thr214=) c.585G= (p.Thr195=) | |
| 3 | g.30671873G>T | CA433058369 | TGFBR2 | c.690G>T (p.Thr230=) n.2286G>T c.765G>T (p.Thr255=) c.717G>T (p.Thr239=) c.642G>T (p.Thr214=) c.585G>T (p.Thr195=) | dbSNP |
| 3 | g.30671874T>A | CA351807655 | TGFBR2 | c.691T>A (p.Cys231Ser) n.2287T>A c.766T>A (p.Cys256Ser) c.718T>A (p.Cys240Ser) c.643T>A (p.Cys215Ser) c.586T>A (p.Cys196Ser) | COSMIC COSMIC |
| 3 | g.30671874T>C | CA351807656 | TGFBR2 | c.691T>C (p.Cys231Arg) n.2287T>C c.766T>C (p.Cys256Arg) c.718T>C (p.Cys240Arg) c.643T>C (p.Cys215Arg) c.586T>C (p.Cys196Arg) | dbSNP |
| 3 | g.30671874T>G | CA351807657 | TGFBR2 | c.691T>G (p.Cys231Gly) n.2287T>G c.766T>G (p.Cys256Gly) c.718T>G (p.Cys240Gly) c.643T>G (p.Cys215Gly) c.586T>G (p.Cys196Gly) | |
| 3 | g.30671874T= | CA1354873041 | TGFBR2 | c.691T= (p.Cys231=) n.2287T= c.766T= (p.Cys256=) c.718T= (p.Cys240=) c.643T= (p.Cys215=) c.586T= (p.Cys196=) | |
| 3 | g.30671875G>A | CA351807658 | TGFBR2 | c.692G>A (p.Cys231Tyr) n.2288G>A c.767G>A (p.Cys256Tyr) c.719G>A (p.Cys240Tyr) c.644G>A (p.Cys215Tyr) c.587G>A (p.Cys196Tyr) | dbSNP |
| 3 | g.30671875G>C | CA351807659 | TGFBR2 | c.692G>C (p.Cys231Ser) n.2288G>C c.767G>C (p.Cys256Ser) c.719G>C (p.Cys240Ser) c.644G>C (p.Cys215Ser) c.587G>C (p.Cys196Ser) | |
| 3 | g.30671875G>T | CA351807660 | TGFBR2 | c.692G>T (p.Cys231Phe) n.2288G>T c.767G>T (p.Cys256Phe) c.719G>T (p.Cys240Phe) c.644G>T (p.Cys215Phe) c.587G>T (p.Cys196Phe) | COSMIC COSMIC |
| 3 | g.30671876T>A | CA351807661 | TGFBR2 | c.693T>A (p.Cys231Ter) n.2289T>A c.768T>A (p.Cys256Ter) c.720T>A (p.Cys240Ter) c.645T>A (p.Cys215Ter) c.588T>A (p.Cys196Ter) | |
| 3 | g.30671876T>C | CA433058513 | TGFBR2 | c.693T>C (p.Cys231=) n.2289T>C c.768T>C (p.Cys256=) c.720T>C (p.Cys240=) c.645T>C (p.Cys215=) c.588T>C (p.Cys196=) | ClinVar dbSNP |
| 3 | g.30671876T>G | CA351807662 | TGFBR2 | c.693T>G (p.Cys231Trp) n.2289T>G c.768T>G (p.Cys256Trp) c.720T>G (p.Cys240Trp) c.645T>G (p.Cys215Trp) c.588T>G (p.Cys196Trp) | |
| 3 | g.30671877G>A | CA351807663 | TGFBR2 | c.694G>A (p.Ala232Thr) n.2290G>A c.769G>A (p.Ala257Thr) c.721G>A (p.Ala241Thr) c.646G>A (p.Ala216Thr) c.589G>A (p.Ala197Thr) | dbSNP |
| 3 | g.30671877G>C | CA351807664 | TGFBR2 | c.694G>C (p.Ala232Pro) n.2290G>C c.769G>C (p.Ala257Pro) c.721G>C (p.Ala241Pro) c.646G>C (p.Ala216Pro) c.589G>C (p.Ala197Pro) | |
| 3 | g.30671877G>T | CA351807665 | TGFBR2 | c.694G>T (p.Ala232Ser) n.2290G>T c.769G>T (p.Ala257Ser) c.721G>T (p.Ala241Ser) c.646G>T (p.Ala216Ser) c.589G>T (p.Ala197Ser) | gnomAD v4 |
| 3 | g.30671878C>A | CA351807666 | TGFBR2 | c.695C>A (p.Ala232Asp) n.2291C>A c.770C>A (p.Ala257Asp) c.722C>A (p.Ala241Asp) c.647C>A (p.Ala216Asp) c.590C>A (p.Ala197Asp) | |
| 3 | g.30671878C>G | CA351807667 | TGFBR2 | c.695C>G (p.Ala232Gly) n.2291C>G c.770C>G (p.Ala257Gly) c.722C>G (p.Ala241Gly) c.647C>G (p.Ala216Gly) c.590C>G (p.Ala197Gly) | dbSNP |
| 3 | g.30671878C>T | CA351807668 | TGFBR2 | c.695C>T (p.Ala232Val) n.2291C>T c.770C>T (p.Ala257Val) c.722C>T (p.Ala241Val) c.647C>T (p.Ala216Val) c.590C>T (p.Ala197Val) | dbSNP gnomAD v4 |
| 3 | g.30671879C>A | CA433058517 | TGFBR2 | c.696C>A (p.Ala232=) n.2292C>A c.771C>A (p.Ala257=) c.723C>A (p.Ala241=) c.648C>A (p.Ala216=) c.591C>A (p.Ala197=) | gnomAD v4 |
| 3 | g.30671879C= | CA1354873042 | TGFBR2 | c.696C= (p.Ala232=) n.2292C= c.771C= (p.Ala257=) c.723C= (p.Ala241=) c.648C= (p.Ala216=) c.591C= (p.Ala197=) | |
| 3 | g.30671879C>G | CA433058518 | TGFBR2 | c.696C>G (p.Ala232=) n.2292C>G c.771C>G (p.Ala257=) c.723C>G (p.Ala241=) c.648C>G (p.Ala216=) c.591C>G (p.Ala197=) | dbSNP |
| 3 | g.30671879C>T | CA049716 | TGFBR2 | c.696C>T (p.Ala232=) n.2292C>T c.771C>T (p.Ala257=) c.723C>T (p.Ala241=) c.648C>T (p.Ala216=) c.591C>T (p.Ala197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671884_30671886del | CA645535104 | TGFBR2 | c.701_703del (p.Asn234del) n.2297_2299del c.776_778del (p.Asn259del) c.728_730del (p.Asn243del) c.653_655del (p.Asn218del) c.596_598del (p.Asn199del) | COSMIC COSMIC |
| 3 | g.30671880A>C | CA351807669 | TGFBR2 | c.697A>C (p.Asn233His) n.2293A>C c.772A>C (p.Asn258His) c.724A>C (p.Asn242His) c.649A>C (p.Asn217His) c.592A>C (p.Asn198His) | |
| 3 | g.30671880A>G | CA351807670 | TGFBR2 | c.697A>G (p.Asn233Asp) n.2293A>G c.772A>G (p.Asn258Asp) c.724A>G (p.Asn242Asp) c.649A>G (p.Asn217Asp) c.592A>G (p.Asn198Asp) | |
| 3 | g.30671880A>T | CA351807671 | TGFBR2 | c.697A>T (p.Asn233Tyr) n.2293A>T c.772A>T (p.Asn258Tyr) c.724A>T (p.Asn242Tyr) c.649A>T (p.Asn217Tyr) c.592A>T (p.Asn198Tyr) | |
| 3 | g.30671881A>C | CA351807672 | TGFBR2 | c.698A>C (p.Asn233Thr) n.2294A>C c.773A>C (p.Asn258Thr) c.725A>C (p.Asn242Thr) c.650A>C (p.Asn217Thr) c.593A>C (p.Asn198Thr) | |
| 3 | g.30671881A>G | CA351807673 | TGFBR2 | c.698A>G (p.Asn233Ser) n.2294A>G c.773A>G (p.Asn258Ser) c.725A>G (p.Asn242Ser) c.650A>G (p.Asn217Ser) c.593A>G (p.Asn198Ser) | |
| 3 | g.30671881A>T | CA351807674 | TGFBR2 | c.698A>T (p.Asn233Ile) n.2294A>T c.773A>T (p.Asn258Ile) c.725A>T (p.Asn242Ile) c.650A>T (p.Asn217Ile) c.593A>T (p.Asn198Ile) | |
| 3 | g.30671882C>A | CA351807675 | TGFBR2 | c.699C>A (p.Asn233Lys) n.2295C>A c.774C>A (p.Asn258Lys) c.726C>A (p.Asn242Lys) c.651C>A (p.Asn217Lys) c.594C>A (p.Asn198Lys) | ClinVar dbSNP |
| 3 | g.30671882C>G | CA351807676 | TGFBR2 | c.699C>G (p.Asn233Lys) n.2295C>G c.774C>G (p.Asn258Lys) c.726C>G (p.Asn242Lys) c.651C>G (p.Asn217Lys) c.594C>G (p.Asn198Lys) | |
| 3 | g.30671882C>T | CA433058519 | TGFBR2 | c.699C>T (p.Asn233=) n.2295C>T c.774C>T (p.Asn258=) c.726C>T (p.Asn242=) c.651C>T (p.Asn217=) c.594C>T (p.Asn198=) | gnomAD v4 |
| 3 | g.30671883A>C | CA351807677 | TGFBR2 | c.700A>C (p.Asn234His) n.2296A>C c.775A>C (p.Asn259His) c.727A>C (p.Asn243His) c.652A>C (p.Asn218His) c.595A>C (p.Asn199His) | |
| 3 | g.30671883A>G | CA351807678 | TGFBR2 | c.700A>G (p.Asn234Asp) n.2296A>G c.775A>G (p.Asn259Asp) c.727A>G (p.Asn243Asp) c.652A>G (p.Asn218Asp) c.595A>G (p.Asn199Asp) | |
| 3 | g.30671883A>T | CA351807679 | TGFBR2 | c.700A>T (p.Asn234Tyr) n.2296A>T c.775A>T (p.Asn259Tyr) c.727A>T (p.Asn243Tyr) c.652A>T (p.Asn218Tyr) c.595A>T (p.Asn199Tyr) | |
| 3 | g.30671884A= | CA1354873043 | TGFBR2 | c.701A= (p.Asn234=) n.2297A= c.776A= (p.Asn259=) c.728A= (p.Asn243=) c.653A= (p.Asn218=) c.596A= (p.Asn199=) | |
| 3 | g.30671884A>C | CA351807680 | TGFBR2 | c.701A>C (p.Asn234Thr) n.2297A>C c.776A>C (p.Asn259Thr) c.728A>C (p.Asn243Thr) c.653A>C (p.Asn218Thr) c.596A>C (p.Asn199Thr) | |
| 3 | g.30671884A>G | CA351807681 | TGFBR2 | c.701A>G (p.Asn234Ser) n.2297A>G c.776A>G (p.Asn259Ser) c.728A>G (p.Asn243Ser) c.653A>G (p.Asn218Ser) c.596A>G (p.Asn199Ser) | |
| 3 | g.30671884A>T | CA320151 | TGFBR2 | c.701A>T (p.Asn234Ile) n.2297A>T c.776A>T (p.Asn259Ile) c.728A>T (p.Asn243Ile) c.653A>T (p.Asn218Ile) c.596A>T (p.Asn199Ile) | ClinVar dbSNP |
| 3 | g.30671885C>A | CA351807682 | TGFBR2 | c.702C>A (p.Asn234Lys) n.2298C>A c.777C>A (p.Asn259Lys) c.729C>A (p.Asn243Lys) c.654C>A (p.Asn218Lys) c.597C>A (p.Asn199Lys) | |
| 3 | g.30671885C>G | CA351807683 | TGFBR2 | c.702C>G (p.Asn234Lys) n.2298C>G c.777C>G (p.Asn259Lys) c.729C>G (p.Asn243Lys) c.654C>G (p.Asn218Lys) c.597C>G (p.Asn199Lys) | |
| 3 | g.30671885C>T | CA433058523 | TGFBR2 | c.702C>T (p.Asn234=) n.2298C>T c.777C>T (p.Asn259=) c.729C>T (p.Asn243=) c.654C>T (p.Asn218=) c.597C>T (p.Asn199=) | |
| 3 | g.30671886A>C | CA351807684 | TGFBR2 | c.703A>C (p.Ile235Leu) n.2299A>C c.778A>C (p.Ile260Leu) c.730A>C (p.Ile244Leu) c.655A>C (p.Ile219Leu) c.598A>C (p.Ile200Leu) | |
| 3 | g.30671886A>G | CA351807685 | TGFBR2 | c.703A>G (p.Ile235Val) n.2299A>G c.778A>G (p.Ile260Val) c.730A>G (p.Ile244Val) c.655A>G (p.Ile219Val) c.598A>G (p.Ile200Val) | |
| 3 | g.30671886A>T | CA351807686 | TGFBR2 | c.703A>T (p.Ile235Phe) n.2299A>T c.778A>T (p.Ile260Phe) c.730A>T (p.Ile244Phe) c.655A>T (p.Ile219Phe) c.598A>T (p.Ile200Phe) | |
| 3 | g.30671887T>A | CA351807689 | TGFBR2 | c.704T>A (p.Ile235Asn) n.2300T>A c.779T>A (p.Ile260Asn) c.731T>A (p.Ile244Asn) c.656T>A (p.Ile219Asn) c.599T>A (p.Ile200Asn) | |
| 3 | g.30671887T>C | CA351807688 | TGFBR2 | c.704T>C (p.Ile235Thr) n.2300T>C c.779T>C (p.Ile260Thr) c.731T>C (p.Ile244Thr) c.656T>C (p.Ile219Thr) c.599T>C (p.Ile200Thr) | |
| 3 | g.30671887T>G | CA351807687 | TGFBR2 | c.704T>G (p.Ile235Ser) n.2300T>G c.779T>G (p.Ile260Ser) c.731T>G (p.Ile244Ser) c.656T>G (p.Ile219Ser) c.599T>G (p.Ile200Ser) | |
| 3 | g.30671888C>A | CA433058528 | TGFBR2 | c.705C>A (p.Ile235=) n.2301C>A c.780C>A (p.Ile260=) c.732C>A (p.Ile244=) c.657C>A (p.Ile219=) c.600C>A (p.Ile200=) | dbSNP |
| 3 | g.30671888C= | CA1354873044 | TGFBR2 | c.705C= (p.Ile235=) n.2301C= c.780C= (p.Ile260=) c.732C= (p.Ile244=) c.657C= (p.Ile219=) c.600C= (p.Ile200=) | |
| 3 | g.30671888C>G | CA351807690 | TGFBR2 | c.705C>G (p.Ile235Met) n.2301C>G c.780C>G (p.Ile260Met) c.732C>G (p.Ile244Met) c.657C>G (p.Ile219Met) c.600C>G (p.Ile200Met) | |
| 3 | g.30671888C>T | CA433058526 | TGFBR2 | c.705C>T (p.Ile235=) n.2301C>T c.780C>T (p.Ile260=) c.732C>T (p.Ile244=) c.657C>T (p.Ile219=) c.600C>T (p.Ile200=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30671889A>C | CA351807691 | TGFBR2 | c.706A>C (p.Asn236His) n.2302A>C c.781A>C (p.Asn261His) c.733A>C (p.Asn245His) c.658A>C (p.Asn220His) c.601A>C (p.Asn201His) | |
| 3 | g.30671889A>G | CA351807692 | TGFBR2 | c.706A>G (p.Asn236Asp) n.2302A>G c.781A>G (p.Asn261Asp) c.733A>G (p.Asn245Asp) c.658A>G (p.Asn220Asp) c.601A>G (p.Asn201Asp) | |
| 3 | g.30671889A>T | CA351807693 | TGFBR2 | c.706A>T (p.Asn236Tyr) n.2302A>T c.781A>T (p.Asn261Tyr) c.733A>T (p.Asn245Tyr) c.658A>T (p.Asn220Tyr) c.601A>T (p.Asn201Tyr) | |
| 3 | g.30671890A>C | CA351807694 | TGFBR2 | c.707A>C (p.Asn236Thr) n.2303A>C c.782A>C (p.Asn261Thr) c.734A>C (p.Asn245Thr) c.659A>C (p.Asn220Thr) c.602A>C (p.Asn201Thr) | |
| 3 | g.30671890A>G | CA351807695 | TGFBR2 | c.707A>G (p.Asn236Ser) n.2303A>G c.782A>G (p.Asn261Ser) c.734A>G (p.Asn245Ser) c.659A>G (p.Asn220Ser) c.602A>G (p.Asn201Ser) | gnomAD v4 |
| 3 | g.30671890A>T | CA351807696 | TGFBR2 | c.707A>T (p.Asn236Ile) n.2303A>T c.782A>T (p.Asn261Ile) c.734A>T (p.Asn245Ile) c.659A>T (p.Asn220Ile) c.602A>T (p.Asn201Ile) | |
| 3 | g.30671891C>A | CA351807697 | TGFBR2 | c.708C>A (p.Asn236Lys) n.2304C>A c.783C>A (p.Asn261Lys) c.735C>A (p.Asn245Lys) c.660C>A (p.Asn220Lys) c.603C>A (p.Asn201Lys) | dbSNP |
| 3 | g.30671891C= | CA1354873045 | TGFBR2 | c.708C= (p.Asn236=) n.2304C= c.783C= (p.Asn261=) c.735C= (p.Asn245=) c.660C= (p.Asn220=) c.603C= (p.Asn201=) | |
| 3 | g.30671891C>G | CA351807698 | TGFBR2 | c.708C>G (p.Asn236Lys) n.2304C>G c.783C>G (p.Asn261Lys) c.735C>G (p.Asn245Lys) c.660C>G (p.Asn220Lys) c.603C>G (p.Asn201Lys) | |
| 3 | g.30671891C>T | CA049742 | TGFBR2 | c.708C>T (p.Asn236=) n.2304C>T c.783C>T (p.Asn261=) c.735C>T (p.Asn245=) c.660C>T (p.Asn220=) c.603C>T (p.Asn201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671892C>A | CA351807699 | TGFBR2 | c.709C>A (p.His237Asn) n.2305C>A c.784C>A (p.His262Asn) c.736C>A (p.His246Asn) c.661C>A (p.His221Asn) c.604C>A (p.His202Asn) | |
| 3 | g.30671892C>G | CA351807700 | TGFBR2 | c.709C>G (p.His237Asp) n.2305C>G c.784C>G (p.His262Asp) c.736C>G (p.His246Asp) c.661C>G (p.His221Asp) c.604C>G (p.His202Asp) | |
| 3 | g.30671892C>T | CA351807701 | TGFBR2 | c.709C>T (p.His237Tyr) n.2305C>T c.784C>T (p.His262Tyr) c.736C>T (p.His246Tyr) c.661C>T (p.His221Tyr) c.604C>T (p.His202Tyr) | |
| 3 | g.30671893A>C | CA351807704 | TGFBR2 | c.710A>C (p.His237Pro) n.2306A>C c.785A>C (p.His262Pro) c.737A>C (p.His246Pro) c.662A>C (p.His221Pro) c.605A>C (p.His202Pro) | |
| 3 | g.30671893A>G | CA351807703 | TGFBR2 | c.710A>G (p.His237Arg) n.2306A>G c.785A>G (p.His262Arg) c.737A>G (p.His246Arg) c.662A>G (p.His221Arg) c.605A>G (p.His202Arg) | |
| 3 | g.30671893A>T | CA351807702 | TGFBR2 | c.710A>T (p.His237Leu) n.2306A>T c.785A>T (p.His262Leu) c.737A>T (p.His246Leu) c.662A>T (p.His221Leu) c.605A>T (p.His202Leu) | dbSNP |
| 3 | g.30671894C>A | CA351807705 | TGFBR2 | c.711C>A (p.His237Gln) n.2307C>A c.786C>A (p.His262Gln) c.738C>A (p.His246Gln) c.663C>A (p.His221Gln) c.606C>A (p.His202Gln) | |
| 3 | g.30671894C>G | CA351807706 | TGFBR2 | c.711C>G (p.His237Gln) n.2307C>G c.786C>G (p.His262Gln) c.738C>G (p.His246Gln) c.663C>G (p.His221Gln) c.606C>G (p.His202Gln) | dbSNP |
| 3 | g.30671894C>T | CA433058534 | TGFBR2 | c.711C>T (p.His237=) n.2307C>T c.786C>T (p.His262=) c.738C>T (p.His246=) c.663C>T (p.His221=) c.606C>T (p.His202=) | |
| 3 | g.30671895A>C | CA351807707 | TGFBR2 | c.712A>C (p.Asn238His) n.2308A>C c.787A>C (p.Asn263His) c.739A>C (p.Asn247His) c.664A>C (p.Asn222His) c.607A>C (p.Asn203His) | |
| 3 | g.30671895A>G | CA351807708 | TGFBR2 | c.712A>G (p.Asn238Asp) n.2308A>G c.787A>G (p.Asn263Asp) c.739A>G (p.Asn247Asp) c.664A>G (p.Asn222Asp) c.607A>G (p.Asn203Asp) | |
| 3 | g.30671895A>T | CA351807709 | TGFBR2 | c.712A>T (p.Asn238Tyr) n.2308A>T c.787A>T (p.Asn263Tyr) c.739A>T (p.Asn247Tyr) c.664A>T (p.Asn222Tyr) c.607A>T (p.Asn203Tyr) | |
| 3 | g.30671896A>C | CA351807710 | TGFBR2 | c.713A>C (p.Asn238Thr) n.2309A>C c.788A>C (p.Asn263Thr) c.740A>C (p.Asn247Thr) c.665A>C (p.Asn222Thr) c.608A>C (p.Asn203Thr) | |
| 3 | g.30671896A>G | CA351807711 | TGFBR2 | c.713A>G (p.Asn238Ser) n.2309A>G c.788A>G (p.Asn263Ser) c.740A>G (p.Asn247Ser) c.665A>G (p.Asn222Ser) c.608A>G (p.Asn203Ser) | |
| 3 | g.30671896A>T | CA351807712 | TGFBR2 | c.713A>T (p.Asn238Ile) n.2309A>T c.788A>T (p.Asn263Ile) c.740A>T (p.Asn247Ile) c.665A>T (p.Asn222Ile) c.608A>T (p.Asn203Ile) | |
| 3 | g.30671897C>A | CA351807713 | TGFBR2 | c.714C>A (p.Asn238Lys) n.2310C>A c.789C>A (p.Asn263Lys) c.741C>A (p.Asn247Lys) c.666C>A (p.Asn222Lys) c.609C>A (p.Asn203Lys) | dbSNP |
| 3 | g.30671897C>G | CA351807714 | TGFBR2 | c.714C>G (p.Asn238Lys) n.2310C>G c.789C>G (p.Asn263Lys) c.741C>G (p.Asn247Lys) c.666C>G (p.Asn222Lys) c.609C>G (p.Asn203Lys) | |
| 3 | g.30671897C>T | CA433058536 | TGFBR2 | c.714C>T (p.Asn238=) n.2310C>T c.789C>T (p.Asn263=) c.741C>T (p.Asn247=) c.666C>T (p.Asn222=) c.609C>T (p.Asn203=) | |
| 3 | g.30671898A>C | CA351807715 | TGFBR2 | c.715A>C (p.Thr239Pro) n.2311A>C c.790A>C (p.Thr264Pro) c.742A>C (p.Thr248Pro) c.667A>C (p.Thr223Pro) c.610A>C (p.Thr204Pro) | |
| 3 | g.30671898A>G | CA351807716 | TGFBR2 | c.715A>G (p.Thr239Ala) n.2311A>G c.790A>G (p.Thr264Ala) c.742A>G (p.Thr248Ala) c.667A>G (p.Thr223Ala) c.610A>G (p.Thr204Ala) | COSMIC COSMIC |
| 3 | g.30671898A>T | CA351807717 | TGFBR2 | c.715A>T (p.Thr239Ser) n.2311A>T c.790A>T (p.Thr264Ser) c.742A>T (p.Thr248Ser) c.667A>T (p.Thr223Ser) c.610A>T (p.Thr204Ser) | |
| 3 | g.30671899C>A | CA351807719 | TGFBR2 | c.716C>A (p.Thr239Lys) n.2312C>A c.791C>A (p.Thr264Lys) c.743C>A (p.Thr248Lys) c.668C>A (p.Thr223Lys) c.611C>A (p.Thr204Lys) | |
| 3 | g.30671899C>G | CA351807720 | TGFBR2 | c.716C>G (p.Thr239Arg) n.2312C>G c.791C>G (p.Thr264Arg) c.743C>G (p.Thr248Arg) c.668C>G (p.Thr223Arg) c.611C>G (p.Thr204Arg) | |
| 3 | g.30671899C>T | CA351807718 | TGFBR2 | c.716C>T (p.Thr239Ile) n.2312C>T c.791C>T (p.Thr264Ile) c.743C>T (p.Thr248Ile) c.668C>T (p.Thr223Ile) c.611C>T (p.Thr204Ile) | |
| 3 | g.30671900A>C | CA433058537 | TGFBR2 | c.717A>C (p.Thr239=) n.2313A>C c.792A>C (p.Thr264=) c.744A>C (p.Thr248=) c.669A>C (p.Thr223=) c.612A>C (p.Thr204=) | |
| 3 | g.30671900A>G | CA433058538 | TGFBR2 | c.717A>G (p.Thr239=) n.2313A>G c.792A>G (p.Thr264=) c.744A>G (p.Thr248=) c.669A>G (p.Thr223=) c.612A>G (p.Thr204=) | COSMIC |
| 3 | g.30671900A>T | CA433058539 | TGFBR2 | c.717A>T (p.Thr239=) n.2313A>T c.792A>T (p.Thr264=) c.744A>T (p.Thr248=) c.669A>T (p.Thr223=) c.612A>T (p.Thr204=) | |
| 3 | g.30671901G>A | CA351807721 | TGFBR2 | c.718G>A (p.Glu240Lys) n.2314G>A c.793G>A (p.Glu265Lys) c.745G>A (p.Glu249Lys) c.670G>A (p.Glu224Lys) c.613G>A (p.Glu205Lys) | |
| 3 | g.30671901G>C | CA351807722 | TGFBR2 | c.718G>C (p.Glu240Gln) n.2314G>C c.793G>C (p.Glu265Gln) c.745G>C (p.Glu249Gln) c.670G>C (p.Glu224Gln) c.613G>C (p.Glu205Gln) | |
| 3 | g.30671901G>T | CA351807723 | TGFBR2 | c.718G>T (p.Glu240Ter) n.2314G>T c.793G>T (p.Glu265Ter) c.745G>T (p.Glu249Ter) c.670G>T (p.Glu224Ter) c.613G>T (p.Glu205Ter) | |
| 3 | g.30671902A>C | CA351807724 | TGFBR2 | c.719A>C (p.Glu240Ala) n.2315A>C c.794A>C (p.Glu265Ala) c.746A>C (p.Glu249Ala) c.671A>C (p.Glu224Ala) c.614A>C (p.Glu205Ala) | |
| 3 | g.30671902A>G | CA351807725 | TGFBR2 | c.719A>G (p.Glu240Gly) n.2315A>G c.794A>G (p.Glu265Gly) c.746A>G (p.Glu249Gly) c.671A>G (p.Glu224Gly) c.614A>G (p.Glu205Gly) | |
| 3 | g.30671902A>T | CA351807726 | TGFBR2 | c.719A>T (p.Glu240Val) n.2315A>T c.794A>T (p.Glu265Val) c.746A>T (p.Glu249Val) c.671A>T (p.Glu224Val) c.614A>T (p.Glu205Val) | |
| 3 | g.30671903G>A | CA433058541 | TGFBR2 | c.720G>A (p.Glu240=) n.2316G>A c.795G>A (p.Glu265=) c.747G>A (p.Glu249=) c.672G>A (p.Glu224=) c.615G>A (p.Glu205=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30671903G>C | CA351807727 | TGFBR2 | c.720G>C (p.Glu240Asp) n.2316G>C c.795G>C (p.Glu265Asp) c.747G>C (p.Glu249Asp) c.672G>C (p.Glu224Asp) c.615G>C (p.Glu205Asp) | |
| 3 | g.30671903G= | CA1354873046 | TGFBR2 | c.720G= (p.Glu240=) n.2316G= c.795G= (p.Glu265=) c.747G= (p.Glu249=) c.672G= (p.Glu224=) c.615G= (p.Glu205=) | |
| 3 | g.30671903G>T | CA351807728 | TGFBR2 | c.720G>T (p.Glu240Asp) n.2316G>T c.795G>T (p.Glu265Asp) c.747G>T (p.Glu249Asp) c.672G>T (p.Glu224Asp) c.615G>T (p.Glu205Asp) | |
| 3 | g.30671904C>A | CA351807729 | TGFBR2 | c.721C>A (p.Leu241Met) n.2317C>A c.796C>A (p.Leu266Met) c.748C>A (p.Leu250Met) c.673C>A (p.Leu225Met) c.616C>A (p.Leu206Met) | |
| 3 | g.30671904C>G | CA351807730 | TGFBR2 | c.721C>G (p.Leu241Val) n.2317C>G c.796C>G (p.Leu266Val) c.748C>G (p.Leu250Val) c.673C>G (p.Leu225Val) c.616C>G (p.Leu206Val) | |
| 3 | g.30671904C>T | CA433058542 | TGFBR2 | c.721C>T (p.Leu241=) n.2317C>T c.796C>T (p.Leu266=) c.748C>T (p.Leu250=) c.673C>T (p.Leu225=) c.616C>T (p.Leu206=) | ClinVar dbSNP |
| 3 | g.30671905T>A | CA351807731 | TGFBR2 | c.722T>A (p.Leu241Gln) n.2318T>A c.797T>A (p.Leu266Gln) c.749T>A (p.Leu250Gln) c.674T>A (p.Leu225Gln) c.617T>A (p.Leu206Gln) | |
| 3 | g.30671905T>C | CA351807732 | TGFBR2 | c.722T>C (p.Leu241Pro) n.2318T>C c.797T>C (p.Leu266Pro) c.749T>C (p.Leu250Pro) c.674T>C (p.Leu225Pro) c.617T>C (p.Leu206Pro) | |
| 3 | g.30671905T>G | CA351807733 | TGFBR2 | c.722T>G (p.Leu241Arg) n.2318T>G c.797T>G (p.Leu266Arg) c.749T>G (p.Leu250Arg) c.674T>G (p.Leu225Arg) c.617T>G (p.Leu206Arg) | |
| 3 | g.30671906G>A | CA433058546 | TGFBR2 | c.723G>A (p.Leu241=) n.2319G>A c.798G>A (p.Leu266=) c.750G>A (p.Leu250=) c.675G>A (p.Leu225=) c.618G>A (p.Leu206=) | dbSNP |
| 3 | g.30671906G>C | CA433058547 | TGFBR2 | c.723G>C (p.Leu241=) n.2319G>C c.798G>C (p.Leu266=) c.750G>C (p.Leu250=) c.675G>C (p.Leu225=) c.618G>C (p.Leu206=) | ClinVar |
| 3 | g.30671906G>T | CA433058548 | TGFBR2 | c.723G>T (p.Leu241=) n.2319G>T c.798G>T (p.Leu266=) c.750G>T (p.Leu250=) c.675G>T (p.Leu225=) c.618G>T (p.Leu206=) | gnomAD v4 |
| 3 | g.30671907C>A | CA351807734 | TGFBR2 | c.724C>A (p.Leu242Met) n.2320C>A c.799C>A (p.Leu267Met) c.751C>A (p.Leu251Met) c.676C>A (p.Leu226Met) c.619C>A (p.Leu207Met) | |
| 3 | g.30671907C= | CA1354873047 | TGFBR2 | c.724C= (p.Leu242=) n.2320C= c.799C= (p.Leu267=) c.751C= (p.Leu251=) c.676C= (p.Leu226=) c.619C= (p.Leu207=) | |
| 3 | g.30671907C>G | CA351807735 | TGFBR2 | c.724C>G (p.Leu242Val) n.2320C>G c.799C>G (p.Leu267Val) c.751C>G (p.Leu251Val) c.676C>G (p.Leu226Val) c.619C>G (p.Leu207Val) | |
| 3 | g.30671907C>T | CA433058549 | TGFBR2 | c.724C>T (p.Leu242=) n.2320C>T c.799C>T (p.Leu267=) c.751C>T (p.Leu251=) c.676C>T (p.Leu226=) c.619C>T (p.Leu207=) | dbSNP |
| 3 | g.30671908T>A | CA351807736 | TGFBR2 | c.725T>A (p.Leu242Gln) n.2321T>A c.800T>A (p.Leu267Gln) c.752T>A (p.Leu251Gln) c.677T>A (p.Leu226Gln) c.620T>A (p.Leu207Gln) | |
| 3 | g.30671908T>C | CA351807737 | TGFBR2 | c.725T>C (p.Leu242Pro) n.2321T>C c.800T>C (p.Leu267Pro) c.752T>C (p.Leu251Pro) c.677T>C (p.Leu226Pro) c.620T>C (p.Leu207Pro) | |
| 3 | g.30671908T>G | CA351807738 | TGFBR2 | c.725T>G (p.Leu242Arg) n.2321T>G c.800T>G (p.Leu267Arg) c.752T>G (p.Leu251Arg) c.677T>G (p.Leu226Arg) c.620T>G (p.Leu207Arg) | |
| 3 | g.30671909G>A | CA433058550 | TGFBR2 | c.726G>A (p.Leu242=) n.2322G>A c.801G>A (p.Leu267=) c.753G>A (p.Leu251=) c.678G>A (p.Leu226=) c.621G>A (p.Leu207=) | COSMIC |
| 3 | g.30671909G>C | CA433058552 | TGFBR2 | c.726G>C (p.Leu242=) n.2322G>C c.801G>C (p.Leu267=) c.753G>C (p.Leu251=) c.678G>C (p.Leu226=) c.621G>C (p.Leu207=) | |
| 3 | g.30671909G>T | CA433058551 | TGFBR2 | c.726G>T (p.Leu242=) n.2322G>T c.801G>T (p.Leu267=) c.753G>T (p.Leu251=) c.678G>T (p.Leu226=) c.621G>T (p.Leu207=) | |
| 3 | g.30671910C>A | CA351807739 | TGFBR2 | c.727C>A (p.Pro243Thr) n.2323C>A c.802C>A (p.Pro268Thr) c.754C>A (p.Pro252Thr) c.679C>A (p.Pro227Thr) c.622C>A (p.Pro208Thr) | |
| 3 | g.30671910C>G | CA351807740 | TGFBR2 | c.727C>G (p.Pro243Ala) n.2323C>G c.802C>G (p.Pro268Ala) c.754C>G (p.Pro252Ala) c.679C>G (p.Pro227Ala) c.622C>G (p.Pro208Ala) | |
| 3 | g.30671910C>T | CA351807741 | TGFBR2 | c.727C>T (p.Pro243Ser) n.2323C>T c.802C>T (p.Pro268Ser) c.754C>T (p.Pro252Ser) c.679C>T (p.Pro227Ser) c.622C>T (p.Pro208Ser) | dbSNP |
| 3 | g.30671911C>A | CA351807742 | TGFBR2 | c.728C>A (p.Pro243His) n.2324C>A c.803C>A (p.Pro268His) c.755C>A (p.Pro252His) c.680C>A (p.Pro227His) c.623C>A (p.Pro208His) | |
| 3 | g.30671911C>G | CA351807743 | TGFBR2 | c.728C>G (p.Pro243Arg) n.2324C>G c.803C>G (p.Pro268Arg) c.755C>G (p.Pro252Arg) c.680C>G (p.Pro227Arg) c.623C>G (p.Pro208Arg) | |
| 3 | g.30671911C>T | CA351807744 | TGFBR2 | c.728C>T (p.Pro243Leu) n.2324C>T c.803C>T (p.Pro268Leu) c.755C>T (p.Pro252Leu) c.680C>T (p.Pro227Leu) c.623C>T (p.Pro208Leu) | dbSNP |
| 3 | g.30671912C>A | CA433058554 | TGFBR2 | c.729C>A (p.Pro243=) n.2325C>A c.804C>A (p.Pro268=) c.756C>A (p.Pro252=) c.681C>A (p.Pro227=) c.624C>A (p.Pro208=) | ClinVar dbSNP |
| 3 | g.30671912C= | CA1354873048 | TGFBR2 | c.729C= (p.Pro243=) n.2325C= c.804C= (p.Pro268=) c.756C= (p.Pro252=) c.681C= (p.Pro227=) c.624C= (p.Pro208=) | |
| 3 | g.30671912C>G | CA433058555 | TGFBR2 | c.729C>G (p.Pro243=) n.2325C>G c.804C>G (p.Pro268=) c.756C>G (p.Pro252=) c.681C>G (p.Pro227=) c.624C>G (p.Pro208=) | dbSNP |
| 3 | g.30671912C>T | CA433058557 | TGFBR2 | c.729C>T (p.Pro243=) n.2325C>T c.804C>T (p.Pro268=) c.756C>T (p.Pro252=) c.681C>T (p.Pro227=) c.624C>T (p.Pro208=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30671913A= | CA1354873049 | TGFBR2 | c.730A= (p.Ile244=) n.2326A= c.805A= (p.Ile269=) c.757A= (p.Ile253=) c.682A= (p.Ile228=) c.625A= (p.Ile209=) | |
| 3 | g.30671913A>C | CA351807745 | TGFBR2 | c.730A>C (p.Ile244Leu) n.2326A>C c.805A>C (p.Ile269Leu) c.757A>C (p.Ile253Leu) c.682A>C (p.Ile228Leu) c.625A>C (p.Ile209Leu) | |
| 3 | g.30671913A>G | CA351807746 | TGFBR2 | c.730A>G (p.Ile244Val) n.2326A>G c.805A>G (p.Ile269Val) c.757A>G (p.Ile253Val) c.682A>G (p.Ile228Val) c.625A>G (p.Ile209Val) | dbSNP |
| 3 | g.30671913A>T | CA351807747 | TGFBR2 | c.730A>T (p.Ile244Phe) n.2326A>T c.805A>T (p.Ile269Phe) c.757A>T (p.Ile253Phe) c.682A>T (p.Ile228Phe) c.625A>T (p.Ile209Phe) | |
| 3 | g.30671914T>A | CA351807749 | TGFBR2 | c.731T>A (p.Ile244Asn) n.2327T>A c.806T>A (p.Ile269Asn) c.758T>A (p.Ile253Asn) c.683T>A (p.Ile228Asn) c.626T>A (p.Ile209Asn) | |
| 3 | g.30671914T>C | CA351807750 | TGFBR2 | c.731T>C (p.Ile244Thr) n.2327T>C c.806T>C (p.Ile269Thr) c.758T>C (p.Ile253Thr) c.683T>C (p.Ile228Thr) c.626T>C (p.Ile209Thr) | gnomAD v4 |
| 3 | g.30671914T>G | CA351807748 | TGFBR2 | c.731T>G (p.Ile244Ser) n.2327T>G c.806T>G (p.Ile269Ser) c.758T>G (p.Ile253Ser) c.683T>G (p.Ile228Ser) c.626T>G (p.Ile209Ser) | |
| 3 | g.30671915T>A | CA433058559 | TGFBR2 | c.732T>A (p.Ile244=) n.2328T>A c.807T>A (p.Ile269=) c.759T>A (p.Ile253=) c.684T>A (p.Ile228=) c.627T>A (p.Ile209=) | |
| 3 | g.30671915T>C | CA433058561 | TGFBR2 | c.732T>C (p.Ile244=) n.2328T>C c.807T>C (p.Ile269=) c.759T>C (p.Ile253=) c.684T>C (p.Ile228=) c.627T>C (p.Ile209=) | |
| 3 | g.30671915T>G | CA351807751 | TGFBR2 | c.732T>G (p.Ile244Met) n.2328T>G c.807T>G (p.Ile269Met) c.759T>G (p.Ile253Met) c.684T>G (p.Ile228Met) c.627T>G (p.Ile209Met) | |
| 3 | g.30671916G>A | CA351807752 | TGFBR2 | c.733G>A (p.Glu245Lys) n.2329G>A c.808G>A (p.Glu270Lys) c.760G>A (p.Glu254Lys) c.685G>A (p.Glu229Lys) c.628G>A (p.Glu210Lys) | |
| 3 | g.30671916G>C | CA351807753 | TGFBR2 | c.733G>C (p.Glu245Gln) n.2329G>C c.808G>C (p.Glu270Gln) c.760G>C (p.Glu254Gln) c.685G>C (p.Glu229Gln) c.628G>C (p.Glu210Gln) | |
| 3 | g.30671916G>T | CA351807754 | TGFBR2 | c.733G>T (p.Glu245Ter) n.2329G>T c.808G>T (p.Glu270Ter) c.760G>T (p.Glu254Ter) c.685G>T (p.Glu229Ter) c.628G>T (p.Glu210Ter) | |
| 3 | g.30671917A>C | CA351807755 | TGFBR2 | c.734A>C (p.Glu245Ala) n.2330A>C c.809A>C (p.Glu270Ala) c.761A>C (p.Glu254Ala) c.686A>C (p.Glu229Ala) c.629A>C (p.Glu210Ala) | |
| 3 | g.30671917A>G | CA351807756 | TGFBR2 | c.734A>G (p.Glu245Gly) n.2330A>G c.809A>G (p.Glu270Gly) c.761A>G (p.Glu254Gly) c.686A>G (p.Glu229Gly) c.629A>G (p.Glu210Gly) | |
| 3 | g.30671917A>T | CA351807757 | TGFBR2 | c.734A>T (p.Glu245Val) n.2330A>T c.809A>T (p.Glu270Val) c.761A>T (p.Glu254Val) c.686A>T (p.Glu229Val) c.629A>T (p.Glu210Val) | dbSNP |
| 3 | g.30671918G>A | CA433058564 | TGFBR2 | c.735G>A (p.Glu245=) n.2331G>A c.810G>A (p.Glu270=) c.762G>A (p.Glu254=) c.687G>A (p.Glu229=) c.630G>A (p.Glu210=) | gnomAD v4 |
| 3 | g.30671918G>C | CA351807759 | TGFBR2 | c.735G>C (p.Glu245Asp) n.2331G>C c.810G>C (p.Glu270Asp) c.762G>C (p.Glu254Asp) c.687G>C (p.Glu229Asp) c.630G>C (p.Glu210Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30671918G= | CA1354873050 | TGFBR2 | c.735G= (p.Glu245=) n.2331G= c.810G= (p.Glu270=) c.762G= (p.Glu254=) c.687G= (p.Glu229=) c.630G= (p.Glu210=) | |
| 3 | g.30671918G>T | CA351807758 | TGFBR2 | c.735G>T (p.Glu245Asp) n.2331G>T c.810G>T (p.Glu270Asp) c.762G>T (p.Glu254Asp) c.687G>T (p.Glu229Asp) c.630G>T (p.Glu210Asp) | |
| 3 | g.30671919C>A | CA351807760 | TGFBR2 | c.736C>A (p.Leu246Met) n.2332C>A c.811C>A (p.Leu271Met) c.763C>A (p.Leu255Met) c.688C>A (p.Leu230Met) c.631C>A (p.Leu211Met) | |
| 3 | g.30671919C= | CA1354873051 | TGFBR2 | c.736C= (p.Leu246=) n.2332C= c.811C= (p.Leu271=) c.763C= (p.Leu255=) c.688C= (p.Leu230=) c.631C= (p.Leu211=) | |
| 3 | g.30671919C>G | CA351807761 | TGFBR2 | c.736C>G (p.Leu246Val) n.2332C>G c.811C>G (p.Leu271Val) c.763C>G (p.Leu255Val) c.688C>G (p.Leu230Val) c.631C>G (p.Leu211Val) | |
| 3 | g.30671919C>T | CA10618021 | TGFBR2 | c.736C>T (p.Leu246=) n.2332C>T c.811C>T (p.Leu271=) c.763C>T (p.Leu255=) c.688C>T (p.Leu230=) c.631C>T (p.Leu211=) | ClinVar dbSNP |
| 3 | g.30671920T>A | CA351807762 | TGFBR2 | c.737T>A (p.Leu246Gln) n.2333T>A c.812T>A (p.Leu271Gln) c.764T>A (p.Leu255Gln) c.689T>A (p.Leu230Gln) c.632T>A (p.Leu211Gln) | |
| 3 | g.30671920T>C | CA351807763 | TGFBR2 | c.737T>C (p.Leu246Pro) n.2333T>C c.812T>C (p.Leu271Pro) c.764T>C (p.Leu255Pro) c.689T>C (p.Leu230Pro) c.632T>C (p.Leu211Pro) | |
| 3 | g.30671920T>G | CA351807764 | TGFBR2 | c.737T>G (p.Leu246Arg) n.2333T>G c.812T>G (p.Leu271Arg) c.764T>G (p.Leu255Arg) c.689T>G (p.Leu230Arg) c.632T>G (p.Leu211Arg) | |
| 3 | g.30671921G>A | CA433058569 | TGFBR2 | c.738G>A (p.Leu246=) n.2334G>A c.813G>A (p.Leu271=) c.765G>A (p.Leu255=) c.690G>A (p.Leu230=) c.633G>A (p.Leu211=) | dbSNP |
| 3 | g.30671921G>C | CA433058572 | TGFBR2 | c.738G>C (p.Leu246=) n.2334G>C c.813G>C (p.Leu271=) c.765G>C (p.Leu255=) c.690G>C (p.Leu230=) c.633G>C (p.Leu211=) | |
| 3 | g.30671921G>T | CA433058570 | TGFBR2 | c.738G>T (p.Leu246=) n.2334G>T c.813G>T (p.Leu271=) c.765G>T (p.Leu255=) c.690G>T (p.Leu230=) c.633G>T (p.Leu211=) | dbSNP |
| 3 | g.30671922G>A | CA351807765 | TGFBR2 | c.739G>A (p.Asp247Asn) n.2335G>A c.814G>A (p.Asp272Asn) c.766G>A (p.Asp256Asn) c.691G>A (p.Asp231Asn) c.634G>A (p.Asp212Asn) | |
| 3 | g.30671922G>C | CA351807767 | TGFBR2 | c.739G>C (p.Asp247His) n.2335G>C c.814G>C (p.Asp272His) c.766G>C (p.Asp256His) c.691G>C (p.Asp231His) c.634G>C (p.Asp212His) | dbSNP gnomAD v4 |
| 3 | g.30671922G>T | CA351807766 | TGFBR2 | c.739G>T (p.Asp247Tyr) n.2335G>T c.814G>T (p.Asp272Tyr) c.766G>T (p.Asp256Tyr) c.691G>T (p.Asp231Tyr) c.634G>T (p.Asp212Tyr) | |
| 3 | g.30671923A= | CA1354873052 | TGFBR2 | c.740A= (p.Asp247=) n.2336A= c.815A= (p.Asp272=) c.767A= (p.Asp256=) c.692A= (p.Asp231=) c.635A= (p.Asp212=) | |
| 3 | g.30671923A>C | CA351807768 | TGFBR2 | c.740A>C (p.Asp247Ala) n.2336A>C c.815A>C (p.Asp272Ala) c.767A>C (p.Asp256Ala) c.692A>C (p.Asp231Ala) c.635A>C (p.Asp212Ala) | |
| 3 | g.30671923A>G | CA351807769 | TGFBR2 | c.740A>G (p.Asp247Gly) n.2336A>G c.815A>G (p.Asp272Gly) c.767A>G (p.Asp256Gly) c.692A>G (p.Asp231Gly) c.635A>G (p.Asp212Gly) | |
| 3 | g.30671923A>T | CA049770 | TGFBR2 | c.740A>T (p.Asp247Val) n.2336A>T c.815A>T (p.Asp272Val) c.767A>T (p.Asp256Val) c.692A>T (p.Asp231Val) c.635A>T (p.Asp212Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671924C>A | CA351807770 | TGFBR2 | c.741C>A (p.Asp247Glu) n.2337C>A c.816C>A (p.Asp272Glu) c.768C>A (p.Asp256Glu) c.693C>A (p.Asp231Glu) c.636C>A (p.Asp212Glu) | |
| 3 | g.30671924C= | CA1354873053 | TGFBR2 | c.741C= (p.Asp247=) n.2337C= c.816C= (p.Asp272=) c.768C= (p.Asp256=) c.693C= (p.Asp231=) c.636C= (p.Asp212=) | |
| 3 | g.30671924C>G | CA351807771 | TGFBR2 | c.741C>G (p.Asp247Glu) n.2337C>G c.816C>G (p.Asp272Glu) c.768C>G (p.Asp256Glu) c.693C>G (p.Asp231Glu) c.636C>G (p.Asp212Glu) | dbSNP |
| 3 | g.30671924C>T | CA049780 | TGFBR2 | c.741C>T (p.Asp247=) n.2337C>T c.816C>T (p.Asp272=) c.768C>T (p.Asp256=) c.693C>T (p.Asp231=) c.636C>T (p.Asp212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30671925A= | CA1354873054 | TGFBR2 | c.742A= (p.Thr248=) n.2338A= c.817A= (p.Thr273=) c.769A= (p.Thr257=) c.694A= (p.Thr232=) c.637A= (p.Thr213=) | |
| 3 | g.30671925A>C | CA351807772 | TGFBR2 | c.742A>C (p.Thr248Pro) n.2338A>C c.817A>C (p.Thr273Pro) c.769A>C (p.Thr257Pro) c.694A>C (p.Thr232Pro) c.637A>C (p.Thr213Pro) | |
| 3 | g.30671925A>G | CA351807773 | TGFBR2 | c.742A>G (p.Thr248Ala) n.2338A>G c.817A>G (p.Thr273Ala) c.769A>G (p.Thr257Ala) c.694A>G (p.Thr232Ala) c.637A>G (p.Thr213Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30671925A>T | CA351807774 | TGFBR2 | c.742A>T (p.Thr248Ser) n.2338A>T c.817A>T (p.Thr273Ser) c.769A>T (p.Thr257Ser) c.694A>T (p.Thr232Ser) c.637A>T (p.Thr213Ser) | |
| 3 | g.30671926C>A | CA351807775 | TGFBR2 | c.743C>A (p.Thr248Asn) n.2339C>A c.818C>A (p.Thr273Asn) c.770C>A (p.Thr257Asn) c.695C>A (p.Thr232Asn) c.638C>A (p.Thr213Asn) | |
| 3 | g.30671926C>G | CA351807776 | TGFBR2 | c.743C>G (p.Thr248Ser) n.2339C>G c.818C>G (p.Thr273Ser) c.770C>G (p.Thr257Ser) c.695C>G (p.Thr232Ser) c.638C>G (p.Thr213Ser) | dbSNP |
| 3 | g.30671926C>T | CA351807777 | TGFBR2 | c.743C>T (p.Thr248Ile) n.2339C>T c.818C>T (p.Thr273Ile) c.770C>T (p.Thr257Ile) c.695C>T (p.Thr232Ile) c.638C>T (p.Thr213Ile) | gnomAD v4 COSMIC COSMIC |
| 3 | g.30671927C>A | CA433058578 | TGFBR2 | c.744C>A (p.Thr248=) n.2340C>A c.819C>A (p.Thr273=) c.771C>A (p.Thr257=) c.696C>A (p.Thr232=) c.639C>A (p.Thr213=) | dbSNP |
| 3 | g.30671927C= | CA1354873055 | TGFBR2 | c.744C= (p.Thr248=) n.2340C= c.819C= (p.Thr273=) c.771C= (p.Thr257=) c.696C= (p.Thr232=) c.639C= (p.Thr213=) | |
| 3 | g.30671927C>G | CA433058579 | TGFBR2 | c.744C>G (p.Thr248=) n.2340C>G c.819C>G (p.Thr273=) c.771C>G (p.Thr257=) c.696C>G (p.Thr232=) c.639C>G (p.Thr213=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671927C>T | CA433058580 | TGFBR2 | c.744C>T (p.Thr248=) n.2340C>T c.819C>T (p.Thr273=) c.771C>T (p.Thr257=) c.696C>T (p.Thr232=) c.639C>T (p.Thr213=) | dbSNP |
| 3 | g.30671928C>A | CA351807779 | TGFBR2 | c.745C>A (p.Leu249Met) n.2341C>A c.820C>A (p.Leu274Met) c.772C>A (p.Leu258Met) c.697C>A (p.Leu233Met) c.640C>A (p.Leu214Met) | dbSNP |
| 3 | g.30671928C= | CA1354873056 | TGFBR2 | c.745C= (p.Leu249=) n.2341C= c.820C= (p.Leu274=) c.772C= (p.Leu258=) c.697C= (p.Leu233=) c.640C= (p.Leu214=) | |
| 3 | g.30671928C>G | CA351807778 | TGFBR2 | c.745C>G (p.Leu249Val) n.2341C>G c.820C>G (p.Leu274Val) c.772C>G (p.Leu258Val) c.697C>G (p.Leu233Val) c.640C>G (p.Leu214Val) | dbSNP gnomAD v4 |
| 3 | g.30671928C>T | CA433058583 | TGFBR2 | c.745C>T (p.Leu249=) n.2341C>T c.820C>T (p.Leu274=) c.772C>T (p.Leu258=) c.697C>T (p.Leu233=) c.640C>T (p.Leu214=) | |
| 3 | g.30671929T>A | CA351807780 | TGFBR2 | c.746T>A (p.Leu249Gln) n.2342T>A c.821T>A (p.Leu274Gln) c.773T>A (p.Leu258Gln) c.698T>A (p.Leu233Gln) c.641T>A (p.Leu214Gln) | |
| 3 | g.30671929T>C | CA351807781 | TGFBR2 | c.746T>C (p.Leu249Pro) n.2342T>C c.821T>C (p.Leu274Pro) c.773T>C (p.Leu258Pro) c.698T>C (p.Leu233Pro) c.641T>C (p.Leu214Pro) | |
| 3 | g.30671929T>G | CA351807782 | TGFBR2 | c.746T>G (p.Leu249Arg) n.2342T>G c.821T>G (p.Leu274Arg) c.773T>G (p.Leu258Arg) c.698T>G (p.Leu233Arg) c.641T>G (p.Leu214Arg) |