Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.30671995T>A | CA351807925 | TGFBR2 | c.812T>A (p.Phe271Tyr) n.2408T>A c.887T>A (p.Phe296Tyr) c.839T>A (p.Phe280Tyr) c.764T>A (p.Phe255Tyr) c.707T>A (p.Phe236Tyr) | |
3 | g.30671995T>C | CA351807924 | TGFBR2 | c.812T>C (p.Phe271Ser) n.2408T>C c.887T>C (p.Phe296Ser) c.839T>C (p.Phe280Ser) c.764T>C (p.Phe255Ser) c.707T>C (p.Phe236Ser) | |
3 | g.30671995T>G | CA351807923 | TGFBR2 | c.812T>G (p.Phe271Cys) n.2408T>G c.887T>G (p.Phe296Cys) c.839T>G (p.Phe280Cys) c.764T>G (p.Phe255Cys) c.707T>G (p.Phe236Cys) | |
3 | g.30671996T>A | CA351807926 | TGFBR2 | c.813T>A (p.Phe271Leu) n.2409T>A c.888T>A (p.Phe296Leu) c.840T>A (p.Phe280Leu) c.765T>A (p.Phe255Leu) c.708T>A (p.Phe236Leu) | |
3 | g.30671996T>C | CA433058724 | TGFBR2 | c.813T>C (p.Phe271=) n.2409T>C c.888T>C (p.Phe296=) c.840T>C (p.Phe280=) c.765T>C (p.Phe255=) c.708T>C (p.Phe236=) | dbSNP gnomAD v4 |
3 | g.30671996T>G | CA351807927 | TGFBR2 | c.813T>G (p.Phe271Leu) n.2409T>G c.888T>G (p.Phe296Leu) c.840T>G (p.Phe280Leu) c.765T>G (p.Phe255Leu) c.708T>G (p.Phe236Leu) | |
3 | g.30671997G>A | CA351807928 | TGFBR2 | c.814G>A (p.Glu272Lys) n.2410G>A c.889G>A (p.Glu297Lys) c.841G>A (p.Glu281Lys) c.766G>A (p.Glu256Lys) c.709G>A (p.Glu237Lys) | dbSNP |
3 | g.30671997G>C | CA351807929 | TGFBR2 | c.814G>C (p.Glu272Gln) n.2410G>C c.889G>C (p.Glu297Gln) c.841G>C (p.Glu281Gln) c.766G>C (p.Glu256Gln) c.709G>C (p.Glu237Gln) | dbSNP |
3 | g.30671997G>T | CA351807930 | TGFBR2 | c.814G>T (p.Glu272Ter) n.2410G>T c.889G>T (p.Glu297Ter) c.841G>T (p.Glu281Ter) c.766G>T (p.Glu256Ter) c.709G>T (p.Glu237Ter) | dbSNP |
3 | g.30671998A>C | CA351807931 | TGFBR2 | c.815A>C (p.Glu272Ala) n.2411A>C c.890A>C (p.Glu297Ala) c.842A>C (p.Glu281Ala) c.767A>C (p.Glu256Ala) c.710A>C (p.Glu237Ala) | |
3 | g.30671998A>G | CA351807932 | TGFBR2 | c.815A>G (p.Glu272Gly) n.2411A>G c.890A>G (p.Glu297Gly) c.842A>G (p.Glu281Gly) c.767A>G (p.Glu256Gly) c.710A>G (p.Glu237Gly) | dbSNP |
3 | g.30671998A>T | CA351807933 | TGFBR2 | c.815A>T (p.Glu272Val) n.2411A>T c.890A>T (p.Glu297Val) c.842A>T (p.Glu281Val) c.767A>T (p.Glu256Val) c.710A>T (p.Glu237Val) | dbSNP |
3 | g.30671999G>A | CA433058730 | TGFBR2 | c.816G>A (p.Glu272=) n.2412G>A c.891G>A (p.Glu297=) c.843G>A (p.Glu281=) c.768G>A (p.Glu256=) c.711G>A (p.Glu237=) | dbSNP |
3 | g.30671999G>C | CA351807935 | TGFBR2 | c.816G>C (p.Glu272Asp) n.2412G>C c.891G>C (p.Glu297Asp) c.843G>C (p.Glu281Asp) c.768G>C (p.Glu256Asp) c.711G>C (p.Glu237Asp) | dbSNP |
3 | g.30671999G>T | CA351807934 | TGFBR2 | c.816G>T (p.Glu272Asp) n.2412G>T c.891G>T (p.Glu297Asp) c.843G>T (p.Glu281Asp) c.768G>T (p.Glu256Asp) c.711G>T (p.Glu237Asp) | |
3 | g.30672000A>C | CA351807936 | TGFBR2 | c.817A>C (p.Thr273Pro) n.2413A>C c.892A>C (p.Thr298Pro) c.844A>C (p.Thr282Pro) c.769A>C (p.Thr257Pro) c.712A>C (p.Thr238Pro) | dbSNP |
3 | g.30672000A>G | CA351807937 | TGFBR2 | c.817A>G (p.Thr273Ala) n.2413A>G c.892A>G (p.Thr298Ala) c.844A>G (p.Thr282Ala) c.769A>G (p.Thr257Ala) c.712A>G (p.Thr238Ala) | |
3 | g.30672000A>T | CA351807938 | TGFBR2 | c.817A>T (p.Thr273Ser) n.2413A>T c.892A>T (p.Thr298Ser) c.844A>T (p.Thr282Ser) c.769A>T (p.Thr257Ser) c.712A>T (p.Thr238Ser) | |
3 | g.30672001C>A | CA351807939 | TGFBR2 | c.818C>A (p.Thr273Lys) n.2414C>A c.893C>A (p.Thr298Lys) c.845C>A (p.Thr282Lys) c.770C>A (p.Thr257Lys) c.713C>A (p.Thr238Lys) | dbSNP |
3 | g.30672001C= | CA1354873084 | TGFBR2 | c.818C= (p.Thr273=) n.2414C= c.893C= (p.Thr298=) c.845C= (p.Thr282=) c.770C= (p.Thr257=) c.713C= (p.Thr238=) | |
3 | g.30672001C>G | CA351807940 | TGFBR2 | c.818C>G (p.Thr273Arg) n.2414C>G c.893C>G (p.Thr298Arg) c.845C>G (p.Thr282Arg) c.770C>G (p.Thr257Arg) c.713C>G (p.Thr238Arg) | dbSNP |
3 | g.30672001C>T | CA351807941 | TGFBR2 | c.818C>T (p.Thr273Ile) n.2414C>T c.893C>T (p.Thr298Ile) c.845C>T (p.Thr282Ile) c.770C>T (p.Thr257Ile) c.713C>T (p.Thr238Ile) | dbSNP |
3 | g.30672002A>C | CA433058733 | TGFBR2 | c.819A>C (p.Thr273=) n.2415A>C c.894A>C (p.Thr298=) c.846A>C (p.Thr282=) c.771A>C (p.Thr257=) c.714A>C (p.Thr238=) | |
3 | g.30672002A>G | CA433058734 | TGFBR2 | c.819A>G (p.Thr273=) n.2415A>G c.894A>G (p.Thr298=) c.846A>G (p.Thr282=) c.771A>G (p.Thr257=) c.714A>G (p.Thr238=) | |
3 | g.30672002A>T | CA433058735 | TGFBR2 | c.819A>T (p.Thr273=) n.2415A>T c.894A>T (p.Thr298=) c.846A>T (p.Thr282=) c.771A>T (p.Thr257=) c.714A>T (p.Thr238=) | dbSNP |
3 | g.30672003G>A | CA351807942 | TGFBR2 | c.820G>A (p.Val274Met) n.2416G>A c.895G>A (p.Val299Met) c.847G>A (p.Val283Met) c.772G>A (p.Val258Met) c.715G>A (p.Val239Met) | dbSNP |
3 | g.30672003G>C | CA351807944 | TGFBR2 | c.820G>C (p.Val274Leu) n.2416G>C c.895G>C (p.Val299Leu) c.847G>C (p.Val283Leu) c.772G>C (p.Val258Leu) c.715G>C (p.Val239Leu) | dbSNP |
3 | g.30672003G>T | CA351807943 | TGFBR2 | c.820G>T (p.Val274Leu) n.2416G>T c.895G>T (p.Val299Leu) c.847G>T (p.Val283Leu) c.772G>T (p.Val258Leu) c.715G>T (p.Val239Leu) | |
3 | g.30672004T>A | CA351807945 | TGFBR2 | c.821T>A (p.Val274Glu) n.2417T>A c.896T>A (p.Val299Glu) c.848T>A (p.Val283Glu) c.773T>A (p.Val258Glu) c.716T>A (p.Val239Glu) | |
3 | g.30672004T>C | CA351807946 | TGFBR2 | c.821T>C (p.Val274Ala) n.2417T>C c.896T>C (p.Val299Ala) c.848T>C (p.Val283Ala) c.773T>C (p.Val258Ala) c.716T>C (p.Val239Ala) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.30672004T>G | CA351807947 | TGFBR2 | c.821T>G (p.Val274Gly) n.2417T>G c.896T>G (p.Val299Gly) c.848T>G (p.Val283Gly) c.773T>G (p.Val258Gly) c.716T>G (p.Val239Gly) | |
3 | g.30672004T= | CA1354873085 | TGFBR2 | c.821T= (p.Val274=) n.2417T= c.896T= (p.Val299=) c.848T= (p.Val283=) c.773T= (p.Val258=) c.716T= (p.Val239=) | |
3 | g.30672005G>A | CA049946 | TGFBR2 | c.822G>A (p.Val274=) n.2418G>A c.897G>A (p.Val299=) c.849G>A (p.Val283=) c.774G>A (p.Val258=) c.717G>A (p.Val239=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30672005G>C | CA433058779 | TGFBR2 | c.822G>C (p.Val274=) n.2418G>C c.897G>C (p.Val299=) c.849G>C (p.Val283=) c.774G>C (p.Val258=) c.717G>C (p.Val239=) | |
3 | g.30672005G= | CA1354873086 | TGFBR2 | c.822G= (p.Val274=) n.2418G= c.897G= (p.Val299=) c.849G= (p.Val283=) c.774G= (p.Val258=) c.717G= (p.Val239=) | |
3 | g.30672005G>T | CA433058778 | TGFBR2 | c.822G>T (p.Val274=) n.2418G>T c.897G>T (p.Val299=) c.849G>T (p.Val283=) c.774G>T (p.Val258=) c.717G>T (p.Val239=) | dbSNP |
3 | g.30672006G>A | CA351807948 | TGFBR2 | c.823G>A (p.Ala275Thr) n.2419G>A c.898G>A (p.Ala300Thr) c.850G>A (p.Ala284Thr) c.775G>A (p.Ala259Thr) c.718G>A (p.Ala240Thr) | dbSNP |
3 | g.30672006G>C | CA351807949 | TGFBR2 | c.823G>C (p.Ala275Pro) n.2419G>C c.898G>C (p.Ala300Pro) c.850G>C (p.Ala284Pro) c.775G>C (p.Ala259Pro) c.718G>C (p.Ala240Pro) | dbSNP |
3 | g.30672006G= | CA1354873087 | TGFBR2 | c.823G= (p.Ala275=) n.2419G= c.898G= (p.Ala300=) c.850G= (p.Ala284=) c.775G= (p.Ala259=) c.718G= (p.Ala240=) | |
3 | g.30672006G>T | CA049958 | TGFBR2 | c.823G>T (p.Ala275Ser) n.2419G>T c.898G>T (p.Ala300Ser) c.850G>T (p.Ala284Ser) c.775G>T (p.Ala259Ser) c.718G>T (p.Ala240Ser) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.30672007C>A | CA351807950 | TGFBR2 | c.824C>A (p.Ala275Glu) n.2420C>A c.899C>A (p.Ala300Glu) c.851C>A (p.Ala284Glu) c.776C>A (p.Ala259Glu) c.719C>A (p.Ala240Glu) | dbSNP |
3 | g.30672007C>G | CA351807951 | TGFBR2 | c.824C>G (p.Ala275Gly) n.2420C>G c.899C>G (p.Ala300Gly) c.851C>G (p.Ala284Gly) c.776C>G (p.Ala259Gly) c.719C>G (p.Ala240Gly) | dbSNP |
3 | g.30672007C>T | CA351807952 | TGFBR2 | c.824C>T (p.Ala275Val) n.2420C>T c.899C>T (p.Ala300Val) c.851C>T (p.Ala284Val) c.776C>T (p.Ala259Val) c.719C>T (p.Ala240Val) | dbSNP gnomAD v4 |
3 | g.30672008A>C | CA433058784 | TGFBR2 | c.825A>C (p.Ala275=) n.2421A>C c.900A>C (p.Ala300=) c.852A>C (p.Ala284=) c.777A>C (p.Ala259=) c.720A>C (p.Ala240=) | |
3 | g.30672008A>G | CA433058785 | TGFBR2 | c.825A>G (p.Ala275=) n.2421A>G c.900A>G (p.Ala300=) c.852A>G (p.Ala284=) c.777A>G (p.Ala259=) c.720A>G (p.Ala240=) | ClinVar dbSNP |
3 | g.30672008A>T | CA433058786 | TGFBR2 | c.825A>T (p.Ala275=) n.2421A>T c.900A>T (p.Ala300=) c.852A>T (p.Ala284=) c.777A>T (p.Ala259=) c.720A>T (p.Ala240=) | |
3 | g.30672009G>A | CA351807955 | TGFBR2 | c.826G>A (p.Val276Ile) n.2422G>A c.901G>A (p.Val301Ile) c.853G>A (p.Val285Ile) c.778G>A (p.Val260Ile) c.721G>A (p.Val241Ile) | dbSNP |
3 | g.30672009G>C | CA351807954 | TGFBR2 | c.826G>C (p.Val276Leu) n.2422G>C c.901G>C (p.Val301Leu) c.853G>C (p.Val285Leu) c.778G>C (p.Val260Leu) c.721G>C (p.Val241Leu) | dbSNP |
3 | g.30672009G= | CA1354873088 | TGFBR2 | c.826G= (p.Val276=) n.2422G= c.901G= (p.Val301=) c.853G= (p.Val285=) c.778G= (p.Val260=) c.721G= (p.Val241=) | |
3 | g.30672009G>T | CA351807953 | TGFBR2 | c.826G>T (p.Val276Phe) n.2422G>T c.901G>T (p.Val301Phe) c.853G>T (p.Val285Phe) c.778G>T (p.Val260Phe) c.721G>T (p.Val241Phe) | ClinVar dbSNP |
3 | g.30672010T>A | CA351807956 | TGFBR2 | c.827T>A (p.Val276Asp) n.2423T>A c.902T>A (p.Val301Asp) c.854T>A (p.Val285Asp) c.779T>A (p.Val260Asp) c.722T>A (p.Val241Asp) | dbSNP |
3 | g.30672010T>C | CA351807957 | TGFBR2 | c.827T>C (p.Val276Ala) n.2423T>C c.902T>C (p.Val301Ala) c.854T>C (p.Val285Ala) c.779T>C (p.Val260Ala) c.722T>C (p.Val241Ala) | |
3 | g.30672010T>G | CA71528136 | TGFBR2 | c.827T>G (p.Val276Gly) n.2423T>G c.902T>G (p.Val301Gly) c.854T>G (p.Val285Gly) c.779T>G (p.Val260Gly) c.722T>G (p.Val241Gly) | dbSNP gnomAD v2 |
3 | g.30672010T= | CA1354873089 | TGFBR2 | c.827T= (p.Val276=) n.2423T= c.902T= (p.Val301=) c.854T= (p.Val285=) c.779T= (p.Val260=) c.722T= (p.Val241=) | |
3 | g.30672011C>A | CA433058787 | TGFBR2 | c.828C>A (p.Val276=) n.2424C>A c.903C>A (p.Val301=) c.855C>A (p.Val285=) c.780C>A (p.Val260=) c.723C>A (p.Val241=) | |
3 | g.30672011C>G | CA433058789 | TGFBR2 | c.828C>G (p.Val276=) n.2424C>G c.903C>G (p.Val301=) c.855C>G (p.Val285=) c.780C>G (p.Val260=) c.723C>G (p.Val241=) | dbSNP |
3 | g.30672011C>T | CA433058788 | TGFBR2 | c.828C>T (p.Val276=) n.2424C>T c.903C>T (p.Val301=) c.855C>T (p.Val285=) c.780C>T (p.Val260=) c.723C>T (p.Val241=) | dbSNP |
3 | g.30672012A>C | CA351807958 | TGFBR2 | c.829A>C (p.Lys277Gln) n.2425A>C c.904A>C (p.Lys302Gln) c.856A>C (p.Lys286Gln) c.781A>C (p.Lys261Gln) c.724A>C (p.Lys242Gln) | |
3 | g.30672012A>G | CA351807959 | TGFBR2 | c.829A>G (p.Lys277Glu) n.2425A>G c.904A>G (p.Lys302Glu) c.856A>G (p.Lys286Glu) c.781A>G (p.Lys261Glu) c.724A>G (p.Lys242Glu) | COSMIC |
3 | g.30672012A>T | CA351807960 | TGFBR2 | c.829A>T (p.Lys277Ter) n.2425A>T c.904A>T (p.Lys302Ter) c.856A>T (p.Lys286Ter) c.781A>T (p.Lys261Ter) c.724A>T (p.Lys242Ter) | dbSNP |
3 | g.30672013A>C | CA351807963 | TGFBR2 | c.830A>C (p.Lys277Thr) n.2426A>C c.905A>C (p.Lys302Thr) c.857A>C (p.Lys286Thr) c.782A>C (p.Lys261Thr) c.725A>C (p.Lys242Thr) | |
3 | g.30672013A>G | CA351807961 | TGFBR2 | c.830A>G (p.Lys277Arg) n.2426A>G c.905A>G (p.Lys302Arg) c.857A>G (p.Lys286Arg) c.782A>G (p.Lys261Arg) c.725A>G (p.Lys242Arg) | COSMIC COSMIC |
3 | g.30672013A>T | CA351807962 | TGFBR2 | c.830A>T (p.Lys277Met) n.2426A>T c.905A>T (p.Lys302Met) c.857A>T (p.Lys286Met) c.782A>T (p.Lys261Met) c.725A>T (p.Lys242Met) | dbSNP |
3 | g.30672014G>A | CA433058790 | TGFBR2 | c.831G>A (p.Lys277=) n.2427G>A c.906G>A (p.Lys302=) c.858G>A (p.Lys286=) c.783G>A (p.Lys261=) c.726G>A (p.Lys242=) | dbSNP |
3 | g.30672014G>C | CA351807964 | TGFBR2 | c.831G>C (p.Lys277Asn) n.2427G>C c.906G>C (p.Lys302Asn) c.858G>C (p.Lys286Asn) c.783G>C (p.Lys261Asn) c.726G>C (p.Lys242Asn) | ClinVar dbSNP |
3 | g.30672014G= | CA1354873090 | TGFBR2 | c.831G= (p.Lys277=) n.2427G= c.906G= (p.Lys302=) c.858G= (p.Lys286=) c.783G= (p.Lys261=) c.726G= (p.Lys242=) | |
3 | g.30672014G>T | CA10587565 | TGFBR2 | c.831G>T (p.Lys277Asn) n.2427G>T c.906G>T (p.Lys302Asn) c.858G>T (p.Lys286Asn) c.783G>T (p.Lys261Asn) c.726G>T (p.Lys242Asn) | ClinVar dbSNP COSMIC COSMIC |
3 | g.30672015A= | CA1354873091 | TGFBR2 | c.832A= (p.Ile278=) n.2428A= c.907A= (p.Ile303=) c.859A= (p.Ile287=) c.784A= (p.Ile262=) c.727A= (p.Ile243=) | |
3 | g.30672015A>C | CA351807965 | TGFBR2 | c.832A>C (p.Ile278Leu) n.2428A>C c.907A>C (p.Ile303Leu) c.859A>C (p.Ile287Leu) c.784A>C (p.Ile262Leu) c.727A>C (p.Ile243Leu) | |
3 | g.30672015A>G | CA351807966 | TGFBR2 | c.832A>G (p.Ile278Val) n.2428A>G c.907A>G (p.Ile303Val) c.859A>G (p.Ile287Val) c.784A>G (p.Ile262Val) c.727A>G (p.Ile243Val) | |
3 | g.30672015A>T | CA351807967 | TGFBR2 | c.832A>T (p.Ile278Phe) n.2428A>T c.907A>T (p.Ile303Phe) c.859A>T (p.Ile287Phe) c.784A>T (p.Ile262Phe) c.727A>T (p.Ile243Phe) | ClinVar dbSNP |
3 | g.30672016T>A | CA351807968 | TGFBR2 | c.833T>A (p.Ile278Asn) n.2429T>A c.908T>A (p.Ile303Asn) c.860T>A (p.Ile287Asn) c.785T>A (p.Ile262Asn) c.728T>A (p.Ile243Asn) | |
3 | g.30672016T>C | CA351807970 | TGFBR2 | c.833T>C (p.Ile278Thr) n.2429T>C c.908T>C (p.Ile303Thr) c.860T>C (p.Ile287Thr) c.785T>C (p.Ile262Thr) c.728T>C (p.Ile243Thr) | |
3 | g.30672016T>G | CA351807969 | TGFBR2 | c.833T>G (p.Ile278Ser) n.2429T>G c.908T>G (p.Ile303Ser) c.860T>G (p.Ile287Ser) c.785T>G (p.Ile262Ser) c.728T>G (p.Ile243Ser) | |
3 | g.30672017C>A | CA433058797 | TGFBR2 | c.834C>A (p.Ile278=) n.2430C>A c.909C>A (p.Ile303=) c.861C>A (p.Ile287=) c.786C>A (p.Ile262=) c.729C>A (p.Ile243=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.30672017C= | CA1354873092 | TGFBR2 | c.834C= (p.Ile278=) n.2430C= c.909C= (p.Ile303=) c.861C= (p.Ile287=) c.786C= (p.Ile262=) c.729C= (p.Ile243=) | |
3 | g.30672017C>G | CA351807971 | TGFBR2 | c.834C>G (p.Ile278Met) n.2430C>G c.909C>G (p.Ile303Met) c.861C>G (p.Ile287Met) c.786C>G (p.Ile262Met) c.729C>G (p.Ile243Met) | dbSNP gnomAD v4 |
3 | g.30672017C>T | CA049968 | TGFBR2 | c.834C>T (p.Ile278=) n.2430C>T c.909C>T (p.Ile303=) c.861C>T (p.Ile287=) c.786C>T (p.Ile262=) c.729C>T (p.Ile243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30672018T>A | CA351807972 | TGFBR2 | c.835T>A (p.Phe279Ile) n.2431T>A c.910T>A (p.Phe304Ile) c.862T>A (p.Phe288Ile) c.787T>A (p.Phe263Ile) c.730T>A (p.Phe244Ile) | |
3 | g.30672018T>C | CA049980 | TGFBR2 | c.835T>C (p.Phe279Leu) n.2431T>C c.910T>C (p.Phe304Leu) c.862T>C (p.Phe288Leu) c.787T>C (p.Phe263Leu) c.730T>C (p.Phe244Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.30672018T>G | CA351807973 | TGFBR2 | c.835T>G (p.Phe279Val) n.2431T>G c.910T>G (p.Phe304Val) c.862T>G (p.Phe288Val) c.787T>G (p.Phe263Val) c.730T>G (p.Phe244Val) | |
3 | g.30672018T= | CA1354873093 | TGFBR2 | c.835T= (p.Phe279=) n.2431T= c.910T= (p.Phe304=) c.862T= (p.Phe288=) c.787T= (p.Phe263=) c.730T= (p.Phe244=) | |
3 | g.30672019T>A | CA351807974 | TGFBR2 | c.836T>A (p.Phe279Tyr) n.2432T>A c.911T>A (p.Phe304Tyr) c.863T>A (p.Phe288Tyr) c.788T>A (p.Phe263Tyr) c.731T>A (p.Phe244Tyr) | |
3 | g.30672019T>C | CA351807975 | TGFBR2 | c.836T>C (p.Phe279Ser) n.2432T>C c.911T>C (p.Phe304Ser) c.863T>C (p.Phe288Ser) c.788T>C (p.Phe263Ser) c.731T>C (p.Phe244Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.30672019T>G | CA351807976 | TGFBR2 | c.836T>G (p.Phe279Cys) n.2432T>G c.911T>G (p.Phe304Cys) c.863T>G (p.Phe288Cys) c.788T>G (p.Phe263Cys) c.731T>G (p.Phe244Cys) | |
3 | g.30672019T= | CA1354873094 | TGFBR2 | c.836T= (p.Phe279=) n.2432T= c.911T= (p.Phe304=) c.863T= (p.Phe288=) c.788T= (p.Phe263=) c.731T= (p.Phe244=) | |
3 | g.30672020T>A | CA351807977 | TGFBR2 | c.837T>A (p.Phe279Leu) n.2433T>A c.912T>A (p.Phe304Leu) c.864T>A (p.Phe288Leu) c.789T>A (p.Phe263Leu) c.732T>A (p.Phe244Leu) | |
3 | g.30672020T>C | CA433058803 | TGFBR2 | c.837T>C (p.Phe279=) n.2433T>C c.912T>C (p.Phe304=) c.864T>C (p.Phe288=) c.789T>C (p.Phe263=) c.732T>C (p.Phe244=) | ClinVar dbSNP |
3 | g.30672020T>G | CA351807978 | TGFBR2 | c.837T>G (p.Phe279Leu) n.2433T>G c.912T>G (p.Phe304Leu) c.864T>G (p.Phe288Leu) c.789T>G (p.Phe263Leu) c.732T>G (p.Phe244Leu) | |
3 | g.30672021C>A | CA351807981 | TGFBR2 | c.838C>A (p.Pro280Thr) n.2434C>A c.913C>A (p.Pro305Thr) c.865C>A (p.Pro289Thr) c.790C>A (p.Pro264Thr) c.733C>A (p.Pro245Thr) | gnomAD v4 |
3 | g.30672021C>G | CA351807980 | TGFBR2 | c.838C>G (p.Pro280Ala) n.2434C>G c.913C>G (p.Pro305Ala) c.865C>G (p.Pro289Ala) c.790C>G (p.Pro264Ala) c.733C>G (p.Pro245Ala) | ClinVar dbSNP |
3 | g.30672021C>T | CA351807979 | TGFBR2 | c.838C>T (p.Pro280Ser) n.2434C>T c.913C>T (p.Pro305Ser) c.865C>T (p.Pro289Ser) c.790C>T (p.Pro264Ser) c.733C>T (p.Pro245Ser) | dbSNP |
3 | g.30672023del | CA2573130182 | TGFBR2 | c.840del (p.Tyr281MetfsTer19) n.2436del c.915del (p.Tyr306MetfsTer19) c.867del (p.Tyr290MetfsTer19) c.792del (p.Tyr265MetfsTer19) c.735del (p.Tyr246MetfsTer19) | |
3 | g.30672022C>A | CA351807982 | TGFBR2 | c.839C>A (p.Pro280His) n.2435C>A c.914C>A (p.Pro305His) c.866C>A (p.Pro289His) c.791C>A (p.Pro264His) c.734C>A (p.Pro245His) | |
3 | g.30672022C>G | CA351807984 | TGFBR2 | c.839C>G (p.Pro280Arg) n.2435C>G c.914C>G (p.Pro305Arg) c.866C>G (p.Pro289Arg) c.791C>G (p.Pro264Arg) c.734C>G (p.Pro245Arg) | dbSNP |
3 | g.30672022C>T | CA351807983 | TGFBR2 | c.839C>T (p.Pro280Leu) n.2435C>T c.914C>T (p.Pro305Leu) c.866C>T (p.Pro289Leu) c.791C>T (p.Pro264Leu) c.734C>T (p.Pro245Leu) | dbSNP |
3 | g.30672023C>A | CA433058807 | TGFBR2 | c.840C>A (p.Pro280=) n.2436C>A c.915C>A (p.Pro305=) c.867C>A (p.Pro289=) c.792C>A (p.Pro264=) c.735C>A (p.Pro245=) | |
3 | g.30672023C= | CA1354873096 | TGFBR2 | c.840C= (p.Pro280=) n.2436C= c.915C= (p.Pro305=) c.867C= (p.Pro289=) c.792C= (p.Pro264=) c.735C= (p.Pro245=) | |
3 | g.30672023C>G | CA433058808 | TGFBR2 | c.840C>G (p.Pro280=) n.2436C>G c.915C>G (p.Pro305=) c.867C>G (p.Pro289=) c.792C>G (p.Pro264=) c.735C>G (p.Pro245=) | ClinVar dbSNP |
3 | g.30672023C>T | CA433058809 | TGFBR2 | c.840C>T (p.Pro280=) n.2436C>T c.915C>T (p.Pro305=) c.867C>T (p.Pro289=) c.792C>T (p.Pro264=) c.735C>T (p.Pro245=) | dbSNP |
3 | g.30672023_30672032delinsCTATGAGGAG | CA1354873095 | TGFBR2 | c.840_849delinsCTATGAGGAG (p.Pro280=) n.2436_2445delinsCTATGAGGAG c.915_924delinsCTATGAGGAG (p.Pro305=) c.867_876delinsCTATGAGGAG (p.Pro289=) c.792_801delinsCTATGAGGAG (p.Pro264=) c.735_744delinsCTATGAGGAG (p.Pro245=) | |
3 | g.30672024T>A | CA351807985 | TGFBR2 | c.841T>A (p.Tyr281Asn) n.2437T>A c.916T>A (p.Tyr306Asn) c.868T>A (p.Tyr290Asn) c.793T>A (p.Tyr265Asn) c.736T>A (p.Tyr246Asn) | |
3 | g.30672024T>C | CA351807987 | TGFBR2 | c.841T>C (p.Tyr281His) n.2437T>C c.916T>C (p.Tyr306His) c.868T>C (p.Tyr290His) c.793T>C (p.Tyr265His) c.736T>C (p.Tyr246His) | |
3 | g.30672024T>G | CA351807986 | TGFBR2 | c.841T>G (p.Tyr281Asp) n.2437T>G c.916T>G (p.Tyr306Asp) c.868T>G (p.Tyr290Asp) c.793T>G (p.Tyr265Asp) c.736T>G (p.Tyr246Asp) | |
3 | g.30672028_30672036del | CA645294023 | TGFBR2 | c.845_853del (p.Glu282_Tyr284del) n.2441_2449del c.920_928del (p.Glu307_Tyr309del) c.872_880del (p.Glu291_Tyr293del) c.797_805del (p.Glu266_Tyr268del) c.740_748del (p.Glu247_Tyr249del) | ClinVar dbSNP |
3 | g.30672025A= | CA1354873097 | TGFBR2 | c.842A= (p.Tyr281=) n.2438A= c.917A= (p.Tyr306=) c.869A= (p.Tyr290=) c.794A= (p.Tyr265=) c.737A= (p.Tyr246=) | |
3 | g.30672025A>C | CA351807988 | TGFBR2 | c.842A>C (p.Tyr281Ser) n.2438A>C c.917A>C (p.Tyr306Ser) c.869A>C (p.Tyr290Ser) c.794A>C (p.Tyr265Ser) c.737A>C (p.Tyr246Ser) | |
3 | g.30672025A>G | CA351807989 | TGFBR2 | c.842A>G (p.Tyr281Cys) n.2438A>G c.917A>G (p.Tyr306Cys) c.869A>G (p.Tyr290Cys) c.794A>G (p.Tyr265Cys) c.737A>G (p.Tyr246Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.30672025A>T | CA351807990 | TGFBR2 | c.842A>T (p.Tyr281Phe) n.2438A>T c.917A>T (p.Tyr306Phe) c.869A>T (p.Tyr290Phe) c.794A>T (p.Tyr265Phe) c.737A>T (p.Tyr246Phe) | ClinVar dbSNP |
3 | g.30672026T>A | CA351807991 | TGFBR2 | c.843T>A (p.Tyr281Ter) n.2439T>A c.918T>A (p.Tyr306Ter) c.870T>A (p.Tyr290Ter) c.795T>A (p.Tyr265Ter) c.738T>A (p.Tyr246Ter) | |
3 | g.30672026T>C | CA433058811 | TGFBR2 | c.843T>C (p.Tyr281=) n.2439T>C c.918T>C (p.Tyr306=) c.870T>C (p.Tyr290=) c.795T>C (p.Tyr265=) c.738T>C (p.Tyr246=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.30672026T>G | CA351807992 | TGFBR2 | c.843T>G (p.Tyr281Ter) n.2439T>G c.918T>G (p.Tyr306Ter) c.870T>G (p.Tyr290Ter) c.795T>G (p.Tyr265Ter) c.738T>G (p.Tyr246Ter) | |
3 | g.30672026T= | CA1354873098 | TGFBR2 | c.843T= (p.Tyr281=) n.2439T= c.918T= (p.Tyr306=) c.870T= (p.Tyr290=) c.795T= (p.Tyr265=) c.738T= (p.Tyr246=) | |
3 | g.30672027G>A | CA351807993 | TGFBR2 | c.844G>A (p.Glu282Lys) n.2440G>A c.919G>A (p.Glu307Lys) c.871G>A (p.Glu291Lys) c.796G>A (p.Glu266Lys) c.739G>A (p.Glu247Lys) | dbSNP |
3 | g.30672027G>C | CA351807994 | TGFBR2 | c.844G>C (p.Glu282Gln) n.2440G>C c.919G>C (p.Glu307Gln) c.871G>C (p.Glu291Gln) c.796G>C (p.Glu266Gln) c.739G>C (p.Glu247Gln) | |
3 | g.30672027G>T | CA351807995 | TGFBR2 | c.844G>T (p.Glu282Ter) n.2440G>T c.919G>T (p.Glu307Ter) c.871G>T (p.Glu291Ter) c.796G>T (p.Glu266Ter) c.739G>T (p.Glu247Ter) | |
3 | g.30672028_30672029del | CA2702364046 | TGFBR2 | c.845_846del (p.Glu282GlyfsTer20) n.2441_2442del c.920_921del (p.Glu307GlyfsTer20) c.872_873del (p.Glu291GlyfsTer20) c.797_798del (p.Glu266GlyfsTer20) c.740_741del (p.Glu247GlyfsTer20) | dbSNP |
3 | g.30672028A>C | CA351807996 | TGFBR2 | c.845A>C (p.Glu282Ala) n.2441A>C c.920A>C (p.Glu307Ala) c.872A>C (p.Glu291Ala) c.797A>C (p.Glu266Ala) c.740A>C (p.Glu247Ala) | |
3 | g.30672028A>G | CA351807997 | TGFBR2 | c.845A>G (p.Glu282Gly) n.2441A>G c.920A>G (p.Glu307Gly) c.872A>G (p.Glu291Gly) c.797A>G (p.Glu266Gly) c.740A>G (p.Glu247Gly) | |
3 | g.30672028A>T | CA351807998 | TGFBR2 | c.845A>T (p.Glu282Val) n.2441A>T c.920A>T (p.Glu307Val) c.872A>T (p.Glu291Val) c.797A>T (p.Glu266Val) c.740A>T (p.Glu247Val) | dbSNP |
3 | g.30672029G>A | CA433058815 | TGFBR2 | c.846G>A (p.Glu282=) n.2442G>A c.921G>A (p.Glu307=) c.873G>A (p.Glu291=) c.798G>A (p.Glu266=) c.741G>A (p.Glu247=) | dbSNP gnomAD v4 |
3 | g.30672029G>C | CA351808000 | TGFBR2 | c.846G>C (p.Glu282Asp) n.2442G>C c.921G>C (p.Glu307Asp) c.873G>C (p.Glu291Asp) c.798G>C (p.Glu266Asp) c.741G>C (p.Glu247Asp) | dbSNP |
3 | g.30672029G>T | CA351807999 | TGFBR2 | c.846G>T (p.Glu282Asp) n.2442G>T c.921G>T (p.Glu307Asp) c.873G>T (p.Glu291Asp) c.798G>T (p.Glu266Asp) c.741G>T (p.Glu247Asp) | dbSNP |
3 | g.30672030G>A | CA351808001 | TGFBR2 | c.847G>A (p.Glu283Lys) n.2443G>A c.922G>A (p.Glu308Lys) c.874G>A (p.Glu292Lys) c.799G>A (p.Glu267Lys) c.742G>A (p.Glu248Lys) | |
3 | g.30672030G>C | CA351808002 | TGFBR2 | c.847G>C (p.Glu283Gln) n.2443G>C c.922G>C (p.Glu308Gln) c.874G>C (p.Glu292Gln) c.799G>C (p.Glu267Gln) c.742G>C (p.Glu248Gln) | dbSNP |
3 | g.30672030G>T | CA351808003 | TGFBR2 | c.847G>T (p.Glu283Ter) n.2443G>T c.922G>T (p.Glu308Ter) c.874G>T (p.Glu292Ter) c.799G>T (p.Glu267Ter) c.742G>T (p.Glu248Ter) | |
3 | g.30672031A>C | CA351808004 | TGFBR2 | c.848A>C (p.Glu283Ala) n.2444A>C c.923A>C (p.Glu308Ala) c.875A>C (p.Glu292Ala) c.800A>C (p.Glu267Ala) c.743A>C (p.Glu248Ala) | |
3 | g.30672031A>G | CA351808005 | TGFBR2 | c.848A>G (p.Glu283Gly) n.2444A>G c.923A>G (p.Glu308Gly) c.875A>G (p.Glu292Gly) c.800A>G (p.Glu267Gly) c.743A>G (p.Glu248Gly) | COSMIC COSMIC |
3 | g.30672031A>T | CA351808006 | TGFBR2 | c.848A>T (p.Glu283Val) n.2444A>T c.923A>T (p.Glu308Val) c.875A>T (p.Glu292Val) c.800A>T (p.Glu267Val) c.743A>T (p.Glu248Val) | dbSNP |
3 | g.30672032G>A | CA433058819 | TGFBR2 | c.849G>A (p.Glu283=) n.2445G>A c.924G>A (p.Glu308=) c.876G>A (p.Glu292=) c.801G>A (p.Glu267=) c.744G>A (p.Glu248=) | ClinVar dbSNP |
3 | g.30672032G>C | CA351808007 | TGFBR2 | c.849G>C (p.Glu283Asp) n.2445G>C c.924G>C (p.Glu308Asp) c.876G>C (p.Glu292Asp) c.801G>C (p.Glu267Asp) c.744G>C (p.Glu248Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.30672032G= | CA1354873099 | TGFBR2 | c.849G= (p.Glu283=) n.2445G= c.924G= (p.Glu308=) c.876G= (p.Glu292=) c.801G= (p.Glu267=) c.744G= (p.Glu248=) | |
3 | g.30672032G>T | CA351808008 | TGFBR2 | c.849G>T (p.Glu283Asp) n.2445G>T c.924G>T (p.Glu308Asp) c.876G>T (p.Glu292Asp) c.801G>T (p.Glu267Asp) c.744G>T (p.Glu248Asp) | ClinVar |
3 | g.30672033T>A | CA351808009 | TGFBR2 | c.850T>A (p.Tyr284Asn) n.2446T>A c.925T>A (p.Tyr309Asn) c.877T>A (p.Tyr293Asn) c.802T>A (p.Tyr268Asn) c.745T>A (p.Tyr249Asn) | dbSNP |
3 | g.30672033T>C | CA351808010 | TGFBR2 | c.850T>C (p.Tyr284His) n.2446T>C c.925T>C (p.Tyr309His) c.877T>C (p.Tyr293His) c.802T>C (p.Tyr268His) c.745T>C (p.Tyr249His) | dbSNP |
3 | g.30672033T>G | CA351808011 | TGFBR2 | c.850T>G (p.Tyr284Asp) n.2446T>G c.925T>G (p.Tyr309Asp) c.877T>G (p.Tyr293Asp) c.802T>G (p.Tyr268Asp) c.745T>G (p.Tyr249Asp) | dbSNP |
3 | g.30672034A= | CA1354873100 | TGFBR2 | c.851A= (p.Tyr284=) n.2447A= c.926A= (p.Tyr309=) c.878A= (p.Tyr293=) c.803A= (p.Tyr268=) c.746A= (p.Tyr249=) | |
3 | g.30672034A>C | CA351808013 | TGFBR2 | c.851A>C (p.Tyr284Ser) n.2447A>C c.926A>C (p.Tyr309Ser) c.878A>C (p.Tyr293Ser) c.803A>C (p.Tyr268Ser) c.746A>C (p.Tyr249Ser) | gnomAD v4 |
3 | g.30672034A>G | CA049994 | TGFBR2 | c.851A>G (p.Tyr284Cys) n.2447A>G c.926A>G (p.Tyr309Cys) c.878A>G (p.Tyr293Cys) c.803A>G (p.Tyr268Cys) c.746A>G (p.Tyr249Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30672034A>T | CA351808012 | TGFBR2 | c.851A>T (p.Tyr284Phe) n.2447A>T c.926A>T (p.Tyr309Phe) c.878A>T (p.Tyr293Phe) c.803A>T (p.Tyr268Phe) c.746A>T (p.Tyr249Phe) | dbSNP |
3 | g.30672035T>A | CA351808014 | TGFBR2 | c.852T>A (p.Tyr284Ter) n.2448T>A c.927T>A (p.Tyr309Ter) c.879T>A (p.Tyr293Ter) c.804T>A (p.Tyr268Ter) c.747T>A (p.Tyr249Ter) | COSMIC COSMIC |
3 | g.30672035T>C | CA433058822 | TGFBR2 | c.852T>C (p.Tyr284=) n.2448T>C c.927T>C (p.Tyr309=) c.879T>C (p.Tyr293=) c.804T>C (p.Tyr268=) c.747T>C (p.Tyr249=) | dbSNP |
3 | g.30672035T>G | CA351808015 | TGFBR2 | c.852T>G (p.Tyr284Ter) n.2448T>G c.927T>G (p.Tyr309Ter) c.879T>G (p.Tyr293Ter) c.804T>G (p.Tyr268Ter) c.747T>G (p.Tyr249Ter) | dbSNP |
3 | g.30672035T= | CA1354873101 | TGFBR2 | c.852T= (p.Tyr284=) n.2448T= c.927T= (p.Tyr309=) c.879T= (p.Tyr293=) c.804T= (p.Tyr268=) c.747T= (p.Tyr249=) | |
3 | g.30672036G>A | CA050010 | TGFBR2 | c.853G>A (p.Ala285Thr) n.2449G>A c.928G>A (p.Ala310Thr) c.880G>A (p.Ala294Thr) c.805G>A (p.Ala269Thr) c.748G>A (p.Ala250Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30672036G>C | CA351808016 | TGFBR2 | c.853G>C (p.Ala285Pro) n.2449G>C c.928G>C (p.Ala310Pro) c.880G>C (p.Ala294Pro) c.805G>C (p.Ala269Pro) c.748G>C (p.Ala250Pro) | dbSNP |
3 | g.30672036G= | CA1354873102 | TGFBR2 | c.853G= (p.Ala285=) n.2449G= c.928G= (p.Ala310=) c.880G= (p.Ala294=) c.805G= (p.Ala269=) c.748G= (p.Ala250=) | |
3 | g.30672036G>T | CA351808017 | TGFBR2 | c.853G>T (p.Ala285Ser) n.2449G>T c.928G>T (p.Ala310Ser) c.880G>T (p.Ala294Ser) c.805G>T (p.Ala269Ser) c.748G>T (p.Ala250Ser) | dbSNP |
3 | g.30672037C>A | CA351808020 | TGFBR2 | c.854C>A (p.Ala285Asp) n.2450C>A c.929C>A (p.Ala310Asp) c.881C>A (p.Ala294Asp) c.806C>A (p.Ala269Asp) c.749C>A (p.Ala250Asp) | |
3 | g.30672037C>G | CA351808019 | TGFBR2 | c.854C>G (p.Ala285Gly) n.2450C>G c.929C>G (p.Ala310Gly) c.881C>G (p.Ala294Gly) c.806C>G (p.Ala269Gly) c.749C>G (p.Ala250Gly) | |
3 | g.30672037C>T | CA351808018 | TGFBR2 | c.854C>T (p.Ala285Val) n.2450C>T c.929C>T (p.Ala310Val) c.881C>T (p.Ala294Val) c.806C>T (p.Ala269Val) c.749C>T (p.Ala250Val) | |
3 | g.30672038C>A | CA433058827 | TGFBR2 | c.855C>A (p.Ala285=) n.2451C>A c.930C>A (p.Ala310=) c.882C>A (p.Ala294=) c.807C>A (p.Ala269=) c.750C>A (p.Ala250=) | |
3 | g.30672038C>G | CA433058828 | TGFBR2 | c.855C>G (p.Ala285=) n.2451C>G c.930C>G (p.Ala310=) c.882C>G (p.Ala294=) c.807C>G (p.Ala269=) c.750C>G (p.Ala250=) | dbSNP |
3 | g.30672038C>T | CA433058830 | TGFBR2 | c.855C>T (p.Ala285=) n.2451C>T c.930C>T (p.Ala310=) c.882C>T (p.Ala294=) c.807C>T (p.Ala269=) c.750C>T (p.Ala250=) | ClinVar dbSNP |
3 | g.30672039T>A | CA351808021 | TGFBR2 | c.856T>A (p.Ser286Thr) n.2452T>A c.931T>A (p.Ser311Thr) c.883T>A (p.Ser295Thr) c.808T>A (p.Ser270Thr) c.751T>A (p.Ser251Thr) | dbSNP |
3 | g.30672039T>C | CA351808022 | TGFBR2 | c.856T>C (p.Ser286Pro) n.2452T>C c.931T>C (p.Ser311Pro) c.883T>C (p.Ser295Pro) c.808T>C (p.Ser270Pro) c.751T>C (p.Ser251Pro) | dbSNP |
3 | g.30672039T>G | CA351808023 | TGFBR2 | c.856T>G (p.Ser286Ala) n.2452T>G c.931T>G (p.Ser311Ala) c.883T>G (p.Ser295Ala) c.808T>G (p.Ser270Ala) c.751T>G (p.Ser251Ala) | |
3 | g.30672040C>A | CA351808024 | TGFBR2 | c.857C>A (p.Ser286Tyr) n.2453C>A c.932C>A (p.Ser311Tyr) c.884C>A (p.Ser295Tyr) c.809C>A (p.Ser270Tyr) c.752C>A (p.Ser251Tyr) | dbSNP |
3 | g.30672040C>G | CA351808025 | TGFBR2 | c.857C>G (p.Ser286Cys) n.2453C>G c.932C>G (p.Ser311Cys) c.884C>G (p.Ser295Cys) c.809C>G (p.Ser270Cys) c.752C>G (p.Ser251Cys) | dbSNP |
3 | g.30672040C>T | CA351808026 | TGFBR2 | c.857C>T (p.Ser286Phe) n.2453C>T c.932C>T (p.Ser311Phe) c.884C>T (p.Ser295Phe) c.809C>T (p.Ser270Phe) c.752C>T (p.Ser251Phe) | dbSNP |
3 | g.30672041T>A | CA433058836 | TGFBR2 | c.858T>A (p.Ser286=) n.2454T>A c.933T>A (p.Ser311=) c.885T>A (p.Ser295=) c.810T>A (p.Ser270=) c.753T>A (p.Ser251=) | dbSNP |
3 | g.30672041T>C | CA433058835 | TGFBR2 | c.858T>C (p.Ser286=) n.2454T>C c.933T>C (p.Ser311=) c.885T>C (p.Ser295=) c.810T>C (p.Ser270=) c.753T>C (p.Ser251=) | dbSNP gnomAD v4 |
3 | g.30672041T>G | CA433058832 | TGFBR2 | c.858T>G (p.Ser286=) n.2454T>G c.933T>G (p.Ser311=) c.885T>G (p.Ser295=) c.810T>G (p.Ser270=) c.753T>G (p.Ser251=) | |
3 | g.30672042dup | CA2664867666 | TGFBR2 | c.859dup (p.Trp287LeufsTer16) n.2455dup c.934dup (p.Trp312LeufsTer16) c.886dup (p.Trp296LeufsTer16) c.811dup (p.Trp271LeufsTer16) c.754dup (p.Trp252LeufsTer16) | ClinVar gnomAD v4 |
3 | g.30672042T>A | CA351808027 | TGFBR2 | c.859T>A (p.Trp287Arg) n.2455T>A c.934T>A (p.Trp312Arg) c.886T>A (p.Trp296Arg) c.811T>A (p.Trp271Arg) c.754T>A (p.Trp252Arg) | |
3 | g.30672042T>C | CA020788 | TGFBR2 | c.859T>C (p.Trp287Arg) n.2455T>C c.934T>C (p.Trp312Arg) c.886T>C (p.Trp296Arg) c.811T>C (p.Trp271Arg) c.754T>C (p.Trp252Arg) | ClinVar dbSNP |
3 | g.30672042T>G | CA351808028 | TGFBR2 | c.859T>G (p.Trp287Gly) n.2455T>G c.934T>G (p.Trp312Gly) c.886T>G (p.Trp296Gly) c.811T>G (p.Trp271Gly) c.754T>G (p.Trp252Gly) | |
3 | g.30672042T= | CA1354873103 | TGFBR2 | c.859T= (p.Trp287=) n.2455T= c.934T= (p.Trp312=) c.886T= (p.Trp296=) c.811T= (p.Trp271=) c.754T= (p.Trp252=) | |
3 | g.30672043G>A | CA351808029 | TGFBR2 | c.860G>A (p.Trp287Ter) n.2456G>A c.935G>A (p.Trp312Ter) c.887G>A (p.Trp296Ter) c.812G>A (p.Trp271Ter) c.755G>A (p.Trp252Ter) | gnomAD v4 |
3 | g.30672043G>C | CA351808030 | TGFBR2 | c.860G>C (p.Trp287Ser) n.2456G>C c.935G>C (p.Trp312Ser) c.887G>C (p.Trp296Ser) c.812G>C (p.Trp271Ser) c.755G>C (p.Trp252Ser) | ClinVar dbSNP |
3 | g.30672043G>T | CA351808031 | TGFBR2 | c.860G>T (p.Trp287Leu) n.2456G>T c.935G>T (p.Trp312Leu) c.887G>T (p.Trp296Leu) c.812G>T (p.Trp271Leu) c.755G>T (p.Trp252Leu) | dbSNP |
3 | g.30672044G>A | CA351808032 | TGFBR2 | c.861G>A (p.Trp287Ter) n.2457G>A c.936G>A (p.Trp312Ter) c.888G>A (p.Trp296Ter) c.813G>A (p.Trp271Ter) c.756G>A (p.Trp252Ter) | dbSNP COSMIC COSMIC |
3 | g.30672044G>C | CA351808033 | TGFBR2 | c.861G>C (p.Trp287Cys) n.2457G>C c.936G>C (p.Trp312Cys) c.888G>C (p.Trp296Cys) c.813G>C (p.Trp271Cys) c.756G>C (p.Trp252Cys) | dbSNP |
3 | g.30672044G>T | CA351808034 | TGFBR2 | c.861G>T (p.Trp287Cys) n.2457G>T c.936G>T (p.Trp312Cys) c.888G>T (p.Trp296Cys) c.813G>T (p.Trp271Cys) c.756G>T (p.Trp252Cys) | dbSNP |
3 | g.30672048_30672056del | CA923726378 | TGFBR2 | c.865_873del (p.Thr289_Lys291del) n.2461_2469del c.940_948del (p.Thr314_Lys316del) c.892_900del (p.Thr298_Lys300del) c.817_825del (p.Thr273_Lys275del) c.760_768del (p.Thr254_Lys256del) | |
3 | g.30672045A>C | CA351808035 | TGFBR2 | c.862A>C (p.Lys288Gln) n.2458A>C c.937A>C (p.Lys313Gln) c.889A>C (p.Lys297Gln) c.814A>C (p.Lys272Gln) c.757A>C (p.Lys253Gln) | |
3 | g.30672045A>G | CA351808036 | TGFBR2 | c.862A>G (p.Lys288Glu) n.2458A>G c.937A>G (p.Lys313Glu) c.889A>G (p.Lys297Glu) c.814A>G (p.Lys272Glu) c.757A>G (p.Lys253Glu) | |
3 | g.30672045A>T | CA351808037 | TGFBR2 | c.862A>T (p.Lys288Ter) n.2458A>T c.937A>T (p.Lys313Ter) c.889A>T (p.Lys297Ter) c.814A>T (p.Lys272Ter) c.757A>T (p.Lys253Ter) | dbSNP |
3 | g.30672046A>C | CA351808038 | TGFBR2 | c.863A>C (p.Lys288Thr) n.2459A>C c.938A>C (p.Lys313Thr) c.890A>C (p.Lys297Thr) c.815A>C (p.Lys272Thr) c.758A>C (p.Lys253Thr) | |
3 | g.30672046A>G | CA351808039 | TGFBR2 | c.863A>G (p.Lys288Arg) n.2459A>G c.938A>G (p.Lys313Arg) c.890A>G (p.Lys297Arg) c.815A>G (p.Lys272Arg) c.758A>G (p.Lys253Arg) | |
3 | g.30672046A>T | CA351808040 | TGFBR2 | c.863A>T (p.Lys288Met) n.2459A>T c.938A>T (p.Lys313Met) c.890A>T (p.Lys297Met) c.815A>T (p.Lys272Met) c.758A>T (p.Lys253Met) | dbSNP |
3 | g.30672047G>A | CA433058840 | TGFBR2 | c.864G>A (p.Lys288=) n.2460G>A c.939G>A (p.Lys313=) c.891G>A (p.Lys297=) c.816G>A (p.Lys272=) c.759G>A (p.Lys253=) | dbSNP |
3 | g.30672047G>C | CA351808041 | TGFBR2 | c.864G>C (p.Lys288Asn) n.2460G>C c.939G>C (p.Lys313Asn) c.891G>C (p.Lys297Asn) c.816G>C (p.Lys272Asn) c.759G>C (p.Lys253Asn) | dbSNP |
3 | g.30672047G>T | CA351808042 | TGFBR2 | c.864G>T (p.Lys288Asn) n.2460G>T c.939G>T (p.Lys313Asn) c.891G>T (p.Lys297Asn) c.816G>T (p.Lys272Asn) c.759G>T (p.Lys253Asn) | |
3 | g.30672048A>C | CA351808043 | TGFBR2 | c.865A>C (p.Thr289Pro) n.2461A>C c.940A>C (p.Thr314Pro) c.892A>C (p.Thr298Pro) c.817A>C (p.Thr273Pro) c.760A>C (p.Thr254Pro) | |
3 | g.30672048A>G | CA351808044 | TGFBR2 | c.865A>G (p.Thr289Ala) n.2461A>G c.940A>G (p.Thr314Ala) c.892A>G (p.Thr298Ala) c.817A>G (p.Thr273Ala) c.760A>G (p.Thr254Ala) | dbSNP |
3 | g.30672048A>T | CA351808045 | TGFBR2 | c.865A>T (p.Thr289Ser) n.2461A>T c.940A>T (p.Thr314Ser) c.892A>T (p.Thr298Ser) c.817A>T (p.Thr273Ser) c.760A>T (p.Thr254Ser) | dbSNP |
3 | g.30672049C>A | CA351808046 | TGFBR2 | c.866C>A (p.Thr289Lys) n.2462C>A c.941C>A (p.Thr314Lys) c.893C>A (p.Thr298Lys) c.818C>A (p.Thr273Lys) c.761C>A (p.Thr254Lys) | |
3 | g.30672049C>G | CA351808047 | TGFBR2 | c.866C>G (p.Thr289Arg) n.2462C>G c.941C>G (p.Thr314Arg) c.893C>G (p.Thr298Arg) c.818C>G (p.Thr273Arg) c.761C>G (p.Thr254Arg) | dbSNP |
3 | g.30672049C>T | CA351808048 | TGFBR2 | c.866C>T (p.Thr289Ile) n.2462C>T c.941C>T (p.Thr314Ile) c.893C>T (p.Thr298Ile) c.818C>T (p.Thr273Ile) c.761C>T (p.Thr254Ile) | dbSNP |
3 | g.30672050A>C | CA433058841 | TGFBR2 | c.867A>C (p.Thr289=) n.2463A>C c.942A>C (p.Thr314=) c.894A>C (p.Thr298=) c.819A>C (p.Thr273=) c.762A>C (p.Thr254=) | |
3 | g.30672050A>G | CA433058842 | TGFBR2 | c.867A>G (p.Thr289=) n.2463A>G c.942A>G (p.Thr314=) c.894A>G (p.Thr298=) c.819A>G (p.Thr273=) c.762A>G (p.Thr254=) | dbSNP |
3 | g.30672050A>T | CA433058843 | TGFBR2 | c.867A>T (p.Thr289=) n.2463A>T c.942A>T (p.Thr314=) c.894A>T (p.Thr298=) c.819A>T (p.Thr273=) c.762A>T (p.Thr254=) | dbSNP |
3 | g.30672051G>A | CA351808051 | TGFBR2 | c.868G>A (p.Glu290Lys) n.2464G>A c.943G>A (p.Glu315Lys) c.895G>A (p.Glu299Lys) c.820G>A (p.Glu274Lys) c.763G>A (p.Glu255Lys) | COSMIC COSMIC |
3 | g.30672051G>C | CA351808049 | TGFBR2 | c.868G>C (p.Glu290Gln) n.2464G>C c.943G>C (p.Glu315Gln) c.895G>C (p.Glu299Gln) c.820G>C (p.Glu274Gln) c.763G>C (p.Glu255Gln) | dbSNP |
3 | g.30672051G>T | CA351808050 | TGFBR2 | c.868G>T (p.Glu290Ter) n.2464G>T c.943G>T (p.Glu315Ter) c.895G>T (p.Glu299Ter) c.820G>T (p.Glu274Ter) c.763G>T (p.Glu255Ter) | dbSNP |
3 | g.30672051_30672054delinsGAGA | CA1354873104 | TGFBR2 | c.868_871delinsGAGA (p.Glu290=) n.2464_2467delinsGAGA c.943_946delinsGAGA (p.Glu315=) c.895_898delinsGAGA (p.Glu299=) c.820_823delinsGAGA (p.Glu274=) c.763_766delinsGAGA (p.Glu255=) | |
3 | g.30672052A= | CA1354873105 | TGFBR2 | c.869A= (p.Glu290=) n.2465A= c.944A= (p.Glu315=) c.896A= (p.Glu299=) c.821A= (p.Glu274=) c.764A= (p.Glu255=) | |
3 | g.30672052A>C | CA351808052 | TGFBR2 | c.869A>C (p.Glu290Ala) n.2465A>C c.944A>C (p.Glu315Ala) c.896A>C (p.Glu299Ala) c.821A>C (p.Glu274Ala) c.764A>C (p.Glu255Ala) | |
3 | g.30672052A>G | CA351808053 | TGFBR2 | c.869A>G (p.Glu290Gly) n.2465A>G c.944A>G (p.Glu315Gly) c.896A>G (p.Glu299Gly) c.821A>G (p.Glu274Gly) c.764A>G (p.Glu255Gly) | ClinVar dbSNP |
3 | g.30672052A>T | CA351808054 | TGFBR2 | c.869A>T (p.Glu290Val) n.2465A>T c.944A>T (p.Glu315Val) c.896A>T (p.Glu299Val) c.821A>T (p.Glu274Val) c.764A>T (p.Glu255Val) | dbSNP |
3 | g.30672054_30672056del | CA645535105 | TGFBR2 | c.871_873del (p.Lys291del) n.2467_2469del c.946_948del (p.Lys316del) c.898_900del (p.Lys300del) c.823_825del (p.Lys275del) c.766_768del (p.Lys256del) | ClinVar dbSNP COSMIC COSMIC |
3 | g.30672053G>A | CA433058845 | TGFBR2 | c.870G>A (p.Glu290=) n.2466G>A c.945G>A (p.Glu315=) c.897G>A (p.Glu299=) c.822G>A (p.Glu274=) c.765G>A (p.Glu255=) | |
3 | g.30672053G>C | CA351808055 | TGFBR2 | c.870G>C (p.Glu290Asp) n.2466G>C c.945G>C (p.Glu315Asp) c.897G>C (p.Glu299Asp) c.822G>C (p.Glu274Asp) c.765G>C (p.Glu255Asp) | |
3 | g.30672053G>T | CA351808056 | TGFBR2 | c.870G>T (p.Glu290Asp) n.2466G>T c.945G>T (p.Glu315Asp) c.897G>T (p.Glu299Asp) c.822G>T (p.Glu274Asp) c.765G>T (p.Glu255Asp) | |
3 | g.30672054A>C | CA351808059 | TGFBR2 | c.871A>C (p.Lys291Gln) n.2467A>C c.946A>C (p.Lys316Gln) c.898A>C (p.Lys300Gln) c.823A>C (p.Lys275Gln) c.766A>C (p.Lys256Gln) | |
3 | g.30672054A>G | CA351808057 | TGFBR2 | c.871A>G (p.Lys291Glu) n.2467A>G c.946A>G (p.Lys316Glu) c.898A>G (p.Lys300Glu) c.823A>G (p.Lys275Glu) c.766A>G (p.Lys256Glu) | |
3 | g.30672054A>T | CA351808058 | TGFBR2 | c.871A>T (p.Lys291Ter) n.2467A>T c.946A>T (p.Lys316Ter) c.898A>T (p.Lys300Ter) c.823A>T (p.Lys275Ter) c.766A>T (p.Lys256Ter) | dbSNP |
3 | g.30672055A>C | CA351808060 | TGFBR2 | c.872A>C (p.Lys291Thr) n.2468A>C c.947A>C (p.Lys316Thr) c.899A>C (p.Lys300Thr) c.824A>C (p.Lys275Thr) c.767A>C (p.Lys256Thr) | |
3 | g.30672055A>G | CA351808061 | TGFBR2 | c.872A>G (p.Lys291Arg) n.2468A>G c.947A>G (p.Lys316Arg) c.899A>G (p.Lys300Arg) c.824A>G (p.Lys275Arg) c.767A>G (p.Lys256Arg) | |
3 | g.30672055A>T | CA351808062 | TGFBR2 | c.872A>T (p.Lys291Met) n.2468A>T c.947A>T (p.Lys316Met) c.899A>T (p.Lys300Met) c.824A>T (p.Lys275Met) c.767A>T (p.Lys256Met) | dbSNP |
3 | g.30672056G>A | CA433058851 | TGFBR2 | c.873G>A (p.Lys291=) n.2469G>A c.948G>A (p.Lys316=) c.900G>A (p.Lys300=) c.825G>A (p.Lys275=) c.768G>A (p.Lys256=) | |
3 | g.30672056G>C | CA351808063 | TGFBR2 | c.873G>C (p.Lys291Asn) n.2469G>C c.948G>C (p.Lys316Asn) c.900G>C (p.Lys300Asn) c.825G>C (p.Lys275Asn) c.768G>C (p.Lys256Asn) | |
3 | g.30672056G>T | CA351808064 | TGFBR2 | c.873G>T (p.Lys291Asn) n.2469G>T c.948G>T (p.Lys316Asn) c.900G>T (p.Lys300Asn) c.825G>T (p.Lys275Asn) c.768G>T (p.Lys256Asn) | |
3 | g.30672057del | CA2664867667 | TGFBR2 | c.874del (p.Asp292ThrfsTer8) n.2470del c.949del (p.Asp317ThrfsTer8) c.901del (p.Asp301ThrfsTer8) c.826del (p.Asp276ThrfsTer8) c.769del (p.Asp257ThrfsTer8) | gnomAD v4 |
3 | g.30672057G>A | CA351808065 | TGFBR2 | c.874G>A (p.Asp292Asn) n.2470G>A c.949G>A (p.Asp317Asn) c.901G>A (p.Asp301Asn) c.826G>A (p.Asp276Asn) c.769G>A (p.Asp257Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.30672057G>C | CA351808066 | TGFBR2 | c.874G>C (p.Asp292His) n.2470G>C c.949G>C (p.Asp317His) c.901G>C (p.Asp301His) c.826G>C (p.Asp276His) c.769G>C (p.Asp257His) | dbSNP |
3 | g.30672057G= | CA1354873106 | TGFBR2 | c.874G= (p.Asp292=) n.2470G= c.949G= (p.Asp317=) c.901G= (p.Asp301=) c.826G= (p.Asp276=) c.769G= (p.Asp257=) | |
3 | g.30672057G>T | CA351808067 | TGFBR2 | c.874G>T (p.Asp292Tyr) n.2470G>T c.949G>T (p.Asp317Tyr) c.901G>T (p.Asp301Tyr) c.826G>T (p.Asp276Tyr) c.769G>T (p.Asp257Tyr) | dbSNP |
3 | g.30672058A>C | CA351808068 | TGFBR2 | c.875A>C (p.Asp292Ala) n.2471A>C c.950A>C (p.Asp317Ala) c.902A>C (p.Asp301Ala) c.827A>C (p.Asp276Ala) c.770A>C (p.Asp257Ala) | |
3 | g.30672058A>G | CA351808069 | TGFBR2 | c.875A>G (p.Asp292Gly) n.2471A>G c.950A>G (p.Asp317Gly) c.902A>G (p.Asp301Gly) c.827A>G (p.Asp276Gly) c.770A>G (p.Asp257Gly) | dbSNP |
3 | g.30672058A>T | CA351808070 | TGFBR2 | c.875A>T (p.Asp292Val) n.2471A>T c.950A>T (p.Asp317Val) c.902A>T (p.Asp301Val) c.827A>T (p.Asp276Val) c.770A>T (p.Asp257Val) | dbSNP |
3 | g.30672059C>A | CA351808071 | TGFBR2 | c.876C>A (p.Asp292Glu) n.2472C>A c.951C>A (p.Asp317Glu) c.903C>A (p.Asp301Glu) c.828C>A (p.Asp276Glu) c.771C>A (p.Asp257Glu) | dbSNP |
3 | g.30672059C>G | CA351808072 | TGFBR2 | c.876C>G (p.Asp292Glu) n.2472C>G c.951C>G (p.Asp317Glu) c.903C>G (p.Asp301Glu) c.828C>G (p.Asp276Glu) c.771C>G (p.Asp257Glu) | dbSNP |
3 | g.30672059C>T | CA433058852 | TGFBR2 | c.876C>T (p.Asp292=) n.2472C>T c.951C>T (p.Asp317=) c.903C>T (p.Asp301=) c.828C>T (p.Asp276=) c.771C>T (p.Asp257=) | dbSNP |
3 | g.30672060A= | CA1354873107 | TGFBR2 | c.877A= (p.Ile293=) n.2473A= c.952A= (p.Ile318=) c.904A= (p.Ile302=) c.829A= (p.Ile277=) c.772A= (p.Ile258=) | |
3 | g.30672060A>C | CA351808073 | TGFBR2 | c.877A>C (p.Ile293Leu) n.2473A>C c.952A>C (p.Ile318Leu) c.904A>C (p.Ile302Leu) c.829A>C (p.Ile277Leu) c.772A>C (p.Ile258Leu) | |
3 | g.30672060A>G | CA050020 | TGFBR2 | c.877A>G (p.Ile293Val) n.2473A>G c.952A>G (p.Ile318Val) c.904A>G (p.Ile302Val) c.829A>G (p.Ile277Val) c.772A>G (p.Ile258Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30672060A>T | CA351808074 | TGFBR2 | c.877A>T (p.Ile293Phe) n.2473A>T c.952A>T (p.Ile318Phe) c.904A>T (p.Ile302Phe) c.829A>T (p.Ile277Phe) c.772A>T (p.Ile258Phe) | ClinVar |
3 | g.30672061T>A | CA351808075 | TGFBR2 | c.878T>A (p.Ile293Asn) n.2474T>A c.953T>A (p.Ile318Asn) c.905T>A (p.Ile302Asn) c.830T>A (p.Ile277Asn) c.773T>A (p.Ile258Asn) | dbSNP |
3 | g.30672061T>C | CA351808076 | TGFBR2 | c.878T>C (p.Ile293Thr) n.2474T>C c.953T>C (p.Ile318Thr) c.905T>C (p.Ile302Thr) c.830T>C (p.Ile277Thr) c.773T>C (p.Ile258Thr) | dbSNP |
3 | g.30672061T>G | CA351808077 | TGFBR2 | c.878T>G (p.Ile293Ser) n.2474T>G c.953T>G (p.Ile318Ser) c.905T>G (p.Ile302Ser) c.830T>G (p.Ile277Ser) c.773T>G (p.Ile258Ser) | |
3 | g.30672061T= | CA1354873108 | TGFBR2 | c.878T= (p.Ile293=) n.2474T= c.953T= (p.Ile318=) c.905T= (p.Ile302=) c.830T= (p.Ile277=) c.773T= (p.Ile258=) | |
3 | g.30672064_30672066del | CA2580614160 | TGFBR2 | c.881_883del (p.Phe294del) n.2477_2479del c.956_958del (p.Phe319del) c.908_910del (p.Phe303del) c.833_835del (p.Phe278del) c.776_778del (p.Phe259del) | ClinVar |
3 | g.30672062C>A | CA433058854 | TGFBR2 | c.879C>A (p.Ile293=) n.2475C>A c.954C>A (p.Ile318=) c.906C>A (p.Ile302=) c.831C>A (p.Ile277=) c.774C>A (p.Ile258=) | dbSNP |
3 | g.30672062C>G | CA351808078 | TGFBR2 | c.879C>G (p.Ile293Met) n.2475C>G c.954C>G (p.Ile318Met) c.906C>G (p.Ile302Met) c.831C>G (p.Ile277Met) c.774C>G (p.Ile258Met) | dbSNP |
3 | g.30672062C>T | CA433058855 | TGFBR2 | c.879C>T (p.Ile293=) n.2475C>T c.954C>T (p.Ile318=) c.906C>T (p.Ile302=) c.831C>T (p.Ile277=) c.774C>T (p.Ile258=) | dbSNP |
3 | g.30672063T>A | CA351808079 | TGFBR2 | c.880T>A (p.Phe294Ile) n.2476T>A c.955T>A (p.Phe319Ile) c.907T>A (p.Phe303Ile) c.832T>A (p.Phe278Ile) c.775T>A (p.Phe259Ile) | dbSNP |
3 | g.30672063T>C | CA351808080 | TGFBR2 | c.880T>C (p.Phe294Leu) n.2476T>C c.955T>C (p.Phe319Leu) c.907T>C (p.Phe303Leu) c.832T>C (p.Phe278Leu) c.775T>C (p.Phe259Leu) | gnomAD v4 |
3 | g.30672063T>G | CA351808081 | TGFBR2 | c.880T>G (p.Phe294Val) n.2476T>G c.955T>G (p.Phe319Val) c.907T>G (p.Phe303Val) c.832T>G (p.Phe278Val) c.775T>G (p.Phe259Val) | |
3 | g.30672064T>A | CA351808082 | TGFBR2 | c.881T>A (p.Phe294Tyr) n.2477T>A c.956T>A (p.Phe319Tyr) c.908T>A (p.Phe303Tyr) c.833T>A (p.Phe278Tyr) c.776T>A (p.Phe259Tyr) | |
3 | g.30672064T>C | CA351808083 | TGFBR2 | c.881T>C (p.Phe294Ser) n.2477T>C c.956T>C (p.Phe319Ser) c.908T>C (p.Phe303Ser) c.833T>C (p.Phe278Ser) c.776T>C (p.Phe259Ser) | |
3 | g.30672064T>G | CA351808084 | TGFBR2 | c.881T>G (p.Phe294Cys) n.2477T>G c.956T>G (p.Phe319Cys) c.908T>G (p.Phe303Cys) c.833T>G (p.Phe278Cys) c.776T>G (p.Phe259Cys) | |
3 | g.30672065C>A | CA351808085 | TGFBR2 | c.882C>A (p.Phe294Leu) n.2478C>A c.957C>A (p.Phe319Leu) c.909C>A (p.Phe303Leu) c.834C>A (p.Phe278Leu) c.777C>A (p.Phe259Leu) | dbSNP |
3 | g.30672065C= | CA1354873109 | TGFBR2 | c.882C= (p.Phe294=) n.2478C= c.957C= (p.Phe319=) c.909C= (p.Phe303=) c.834C= (p.Phe278=) c.777C= (p.Phe259=) | |
3 | g.30672065C>G | CA351808086 | TGFBR2 | c.882C>G (p.Phe294Leu) n.2478C>G c.957C>G (p.Phe319Leu) c.909C>G (p.Phe303Leu) c.834C>G (p.Phe278Leu) c.777C>G (p.Phe259Leu) | dbSNP |
3 | g.30672065C>T | CA050037 | TGFBR2 | c.882C>T (p.Phe294=) n.2478C>T c.957C>T (p.Phe319=) c.909C>T (p.Phe303=) c.834C>T (p.Phe278=) c.777C>T (p.Phe259=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30672066T>A | CA351808089 | TGFBR2 | c.883T>A (p.Ser295Thr) n.2479T>A c.958T>A (p.Ser320Thr) c.910T>A (p.Ser304Thr) c.835T>A (p.Ser279Thr) c.778T>A (p.Ser260Thr) | dbSNP |
3 | g.30672066T>C | CA351808087 | TGFBR2 | c.883T>C (p.Ser295Pro) n.2479T>C c.958T>C (p.Ser320Pro) c.910T>C (p.Ser304Pro) c.835T>C (p.Ser279Pro) c.778T>C (p.Ser260Pro) | dbSNP |
3 | g.30672066T>G | CA351808088 | TGFBR2 | c.883T>G (p.Ser295Ala) n.2479T>G c.958T>G (p.Ser320Ala) c.910T>G (p.Ser304Ala) c.835T>G (p.Ser279Ala) c.778T>G (p.Ser260Ala) | |
3 | g.30672067C>A | CA351808090 | TGFBR2 | c.884C>A (p.Ser295Ter) n.2480C>A c.959C>A (p.Ser320Ter) c.911C>A (p.Ser304Ter) c.836C>A (p.Ser279Ter) c.779C>A (p.Ser260Ter) | dbSNP gnomAD v4 |
3 | g.30672067C= | CA1354873110 | TGFBR2 | c.884C= (p.Ser295=) n.2480C= c.959C= (p.Ser320=) c.911C= (p.Ser304=) c.836C= (p.Ser279=) c.779C= (p.Ser260=) | |
3 | g.30672067C>G | CA351808091 | TGFBR2 | c.884C>G (p.Ser295Ter) n.2480C>G c.959C>G (p.Ser320Ter) c.911C>G (p.Ser304Ter) c.836C>G (p.Ser279Ter) c.779C>G (p.Ser260Ter) | dbSNP COSMIC |
3 | g.30672067C>T | CA351808092 | TGFBR2 | c.884C>T (p.Ser295Leu) n.2480C>T c.959C>T (p.Ser320Leu) c.911C>T (p.Ser304Leu) c.836C>T (p.Ser279Leu) c.779C>T (p.Ser260Leu) | ClinVar dbSNP gnomAD v2 |
3 | g.30672068A>C | CA433058864 | TGFBR2 | c.885A>C (p.Ser295=) n.2481A>C c.960A>C (p.Ser320=) c.912A>C (p.Ser304=) c.837A>C (p.Ser279=) c.780A>C (p.Ser260=) | |
3 | g.30672068A>G | CA433058863 | TGFBR2 | c.885A>G (p.Ser295=) n.2481A>G c.960A>G (p.Ser320=) c.912A>G (p.Ser304=) c.837A>G (p.Ser279=) c.780A>G (p.Ser260=) | dbSNP |
3 | g.30672068A>T | CA433058861 | TGFBR2 | c.885A>T (p.Ser295=) n.2481A>T c.960A>T (p.Ser320=) c.912A>T (p.Ser304=) c.837A>T (p.Ser279=) c.780A>T (p.Ser260=) | dbSNP |
3 | g.30672069G>A | CA351808093 | TGFBR2 | c.886G>A (p.Asp296Asn) n.2482G>A c.961G>A (p.Asp321Asn) c.913G>A (p.Asp305Asn) c.838G>A (p.Asp280Asn) c.781G>A (p.Asp261Asn) | dbSNP |
3 | g.30672069G>C | CA351808094 | TGFBR2 | c.886G>C (p.Asp296His) n.2482G>C c.961G>C (p.Asp321His) c.913G>C (p.Asp305His) c.838G>C (p.Asp280His) c.781G>C (p.Asp261His) | dbSNP |
3 | g.30672069G>T | CA351808095 | TGFBR2 | c.886G>T (p.Asp296Tyr) n.2482G>T c.961G>T (p.Asp321Tyr) c.913G>T (p.Asp305Tyr) c.838G>T (p.Asp280Tyr) c.781G>T (p.Asp261Tyr) | dbSNP gnomAD v4 |
3 | g.30672070A>C | CA351808096 | TGFBR2 | c.887A>C (p.Asp296Ala) n.2483A>C c.962A>C (p.Asp321Ala) c.914A>C (p.Asp305Ala) c.839A>C (p.Asp280Ala) c.782A>C (p.Asp261Ala) | |
3 | g.30672070A>G | CA351808097 | TGFBR2 | c.887A>G (p.Asp296Gly) n.2483A>G c.962A>G (p.Asp321Gly) c.914A>G (p.Asp305Gly) c.839A>G (p.Asp280Gly) c.782A>G (p.Asp261Gly) | gnomAD v4 |
3 | g.30672070A>T | CA351808098 | TGFBR2 | c.887A>T (p.Asp296Val) n.2483A>T c.962A>T (p.Asp321Val) c.914A>T (p.Asp305Val) c.839A>T (p.Asp280Val) c.782A>T (p.Asp261Val) | dbSNP |
3 | g.30672071C>A | CA351808099 | TGFBR2 | c.888C>A (p.Asp296Glu) n.2484C>A c.963C>A (p.Asp321Glu) c.915C>A (p.Asp305Glu) c.840C>A (p.Asp280Glu) c.783C>A (p.Asp261Glu) | dbSNP |
3 | g.30672071C= | CA1354873111 | TGFBR2 | c.888C= (p.Asp296=) n.2484C= c.963C= (p.Asp321=) c.915C= (p.Asp305=) c.840C= (p.Asp280=) c.783C= (p.Asp261=) | |
3 | g.30672071C>G | CA351808100 | TGFBR2 | c.888C>G (p.Asp296Glu) n.2484C>G c.963C>G (p.Asp321Glu) c.915C>G (p.Asp305Glu) c.840C>G (p.Asp280Glu) c.783C>G (p.Asp261Glu) | dbSNP |
3 | g.30672071C>T | CA433058865 | TGFBR2 | c.888C>T (p.Asp296=) n.2484C>T c.963C>T (p.Asp321=) c.915C>T (p.Asp305=) c.840C>T (p.Asp280=) c.783C>T (p.Asp261=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.30672072A= | CA1354873112 | TGFBR2 | c.889A= (p.Ile297=) n.2485A= c.964A= (p.Ile322=) c.916A= (p.Ile306=) c.841A= (p.Ile281=) c.784A= (p.Ile262=) | |
3 | g.30672072A>C | CA351808102 | TGFBR2 | c.889A>C (p.Ile297Leu) n.2485A>C c.964A>C (p.Ile322Leu) c.916A>C (p.Ile306Leu) c.841A>C (p.Ile281Leu) c.784A>C (p.Ile262Leu) | |
3 | g.30672072A>G | CA050052 | TGFBR2 | c.889A>G (p.Ile297Val) n.2485A>G c.964A>G (p.Ile322Val) c.916A>G (p.Ile306Val) c.841A>G (p.Ile281Val) c.784A>G (p.Ile262Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30672072A>T | CA351808101 | TGFBR2 | c.889A>T (p.Ile297Phe) n.2485A>T c.964A>T (p.Ile322Phe) c.916A>T (p.Ile306Phe) c.841A>T (p.Ile281Phe) c.784A>T (p.Ile262Phe) | dbSNP gnomAD v4 |
3 | g.30672073T>A | CA351808103 | TGFBR2 | c.890T>A (p.Ile297Asn) n.2486T>A c.965T>A (p.Ile322Asn) c.917T>A (p.Ile306Asn) c.842T>A (p.Ile281Asn) c.785T>A (p.Ile262Asn) | dbSNP |
3 | g.30672073T>C | CA351808105 | TGFBR2 | c.890T>C (p.Ile297Thr) n.2486T>C c.965T>C (p.Ile322Thr) c.917T>C (p.Ile306Thr) c.842T>C (p.Ile281Thr) c.785T>C (p.Ile262Thr) | dbSNP |
3 | g.30672073T>G | CA351808104 | TGFBR2 | c.890T>G (p.Ile297Ser) n.2486T>G c.965T>G (p.Ile322Ser) c.917T>G (p.Ile306Ser) c.842T>G (p.Ile281Ser) c.785T>G (p.Ile262Ser) | |
3 | g.30672074C>A | CA433058867 | TGFBR2 | c.891C>A (p.Ile297=) n.2487C>A c.966C>A (p.Ile322=) c.918C>A (p.Ile306=) c.843C>A (p.Ile281=) c.786C>A (p.Ile262=) | dbSNP |
3 | g.30672074C>G | CA351808106 | TGFBR2 | c.891C>G (p.Ile297Met) n.2487C>G c.966C>G (p.Ile322Met) c.918C>G (p.Ile306Met) c.843C>G (p.Ile281Met) c.786C>G (p.Ile262Met) | dbSNP |
3 | g.30672074C>T | CA433058868 | TGFBR2 | c.891C>T (p.Ile297=) n.2487C>T c.966C>T (p.Ile322=) c.918C>T (p.Ile306=) c.843C>T (p.Ile281=) c.786C>T (p.Ile262=) | dbSNP |
3 | g.30672075A= | CA1354873113 | TGFBR2 | c.892A= (p.Asn298=) n.2488A= c.967A= (p.Asn323=) c.919A= (p.Asn307=) c.844A= (p.Asn282=) c.787A= (p.Asn263=) | |
3 | g.30672075A>C | CA351808108 | TGFBR2 | c.892A>C (p.Asn298His) n.2488A>C c.967A>C (p.Asn323His) c.919A>C (p.Asn307His) c.844A>C (p.Asn282His) c.787A>C (p.Asn263His) | |
3 | g.30672075A>G | CA351808107 | TGFBR2 | c.892A>G (p.Asn298Asp) n.2488A>G c.967A>G (p.Asn323Asp) c.919A>G (p.Asn307Asp) c.844A>G (p.Asn282Asp) c.787A>G (p.Asn263Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.30672075A>T | CA351808109 | TGFBR2 | c.892A>T (p.Asn298Tyr) n.2488A>T c.967A>T (p.Asn323Tyr) c.919A>T (p.Asn307Tyr) c.844A>T (p.Asn282Tyr) c.787A>T (p.Asn263Tyr) | dbSNP |
3 | g.30672076A= | CA1354873114 | TGFBR2 | c.893A= (p.Asn298=) n.2489A= c.968A= (p.Asn323=) c.920A= (p.Asn307=) c.845A= (p.Asn282=) c.788A= (p.Asn263=) | |
3 | g.30672076A>C | CA351808110 | TGFBR2 | c.893A>C (p.Asn298Thr) n.2489A>C c.968A>C (p.Asn323Thr) c.920A>C (p.Asn307Thr) c.845A>C (p.Asn282Thr) c.788A>C (p.Asn263Thr) | ClinVar gnomAD v4 |
3 | g.30672076A>G | CA050066 | TGFBR2 | c.893A>G (p.Asn298Ser) n.2489A>G c.968A>G (p.Asn323Ser) c.920A>G (p.Asn307Ser) c.845A>G (p.Asn282Ser) c.788A>G (p.Asn263Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30672076A>T | CA71528229 | TGFBR2 | c.893A>T (p.Asn298Ile) n.2489A>T c.968A>T (p.Asn323Ile) c.920A>T (p.Asn307Ile) c.845A>T (p.Asn282Ile) c.788A>T (p.Asn263Ile) | dbSNP gnomAD v4 |
3 | g.30672077T>A | CA351808111 | TGFBR2 | c.894T>A (p.Asn298Lys) n.2490T>A c.969T>A (p.Asn323Lys) c.921T>A (p.Asn307Lys) c.846T>A (p.Asn282Lys) c.789T>A (p.Asn263Lys) | dbSNP |
3 | g.30672077T>C | CA433058872 | TGFBR2 | c.894T>C (p.Asn298=) n.2490T>C c.969T>C (p.Asn323=) c.921T>C (p.Asn307=) c.846T>C (p.Asn282=) c.789T>C (p.Asn263=) | COSMIC COSMIC |
3 | g.30672077T>G | CA351808112 | TGFBR2 | c.894T>G (p.Asn298Lys) n.2490T>G c.969T>G (p.Asn323Lys) c.921T>G (p.Asn307Lys) c.846T>G (p.Asn282Lys) c.789T>G (p.Asn263Lys) | dbSNP gnomAD v4 |
3 | g.30672078C>A | CA351808113 | TGFBR2 | c.895C>A (p.Leu299Met) n.2491C>A c.970C>A (p.Leu324Met) c.922C>A (p.Leu308Met) c.847C>A (p.Leu283Met) c.790C>A (p.Leu264Met) | dbSNP gnomAD v4 |
3 | g.30672078C>G | CA351808114 | TGFBR2 | c.895C>G (p.Leu299Val) n.2491C>G c.970C>G (p.Leu324Val) c.922C>G (p.Leu308Val) c.847C>G (p.Leu283Val) c.790C>G (p.Leu264Val) | dbSNP |
3 | g.30672078C>T | CA433058874 | TGFBR2 | c.895C>T (p.Leu299=) n.2491C>T c.970C>T (p.Leu324=) c.922C>T (p.Leu308=) c.847C>T (p.Leu283=) c.790C>T (p.Leu264=) | dbSNP |
3 | g.30672079T>A | CA351808115 | TGFBR2 | c.896T>A (p.Leu299Gln) n.2492T>A c.971T>A (p.Leu324Gln) c.923T>A (p.Leu308Gln) c.848T>A (p.Leu283Gln) c.791T>A (p.Leu264Gln) | dbSNP |
3 | g.30672079T>C | CA351808116 | TGFBR2 | c.896T>C (p.Leu299Pro) n.2492T>C c.971T>C (p.Leu324Pro) c.923T>C (p.Leu308Pro) c.848T>C (p.Leu283Pro) c.791T>C (p.Leu264Pro) | dbSNP |
3 | g.30672079T>G | CA351808117 | TGFBR2 | c.896T>G (p.Leu299Arg) n.2492T>G c.971T>G (p.Leu324Arg) c.923T>G (p.Leu308Arg) c.848T>G (p.Leu283Arg) c.791T>G (p.Leu264Arg) | |
3 | g.30672080G>A | CA433058875 | TGFBR2 | c.897G>A (p.Leu299=) n.2493G>A c.972G>A (p.Leu324=) c.924G>A (p.Leu308=) c.849G>A (p.Leu283=) c.792G>A (p.Leu264=) | ClinVar dbSNP gnomAD v4 |
3 | g.30672080G>C | CA433058877 | TGFBR2 | c.897G>C (p.Leu299=) n.2493G>C c.972G>C (p.Leu324=) c.924G>C (p.Leu308=) c.849G>C (p.Leu283=) c.792G>C (p.Leu264=) | dbSNP |
3 | g.30672080G= | CA1354873115 | TGFBR2 | c.897G= (p.Leu299=) n.2493G= c.972G= (p.Leu324=) c.924G= (p.Leu308=) c.849G= (p.Leu283=) c.792G= (p.Leu264=) | |
3 | g.30672080G>T | CA433058879 | TGFBR2 | c.897G>T (p.Leu299=) n.2493G>T c.972G>T (p.Leu324=) c.924G>T (p.Leu308=) c.849G>T (p.Leu283=) c.792G>T (p.Leu264=) | dbSNP |
3 | g.30672081A>C | CA351808118 | TGFBR2 | c.898A>C (p.Lys300Gln) n.2494A>C c.973A>C (p.Lys325Gln) c.925A>C (p.Lys309Gln) c.850A>C (p.Lys284Gln) c.793A>C (p.Lys265Gln) | dbSNP |
3 | g.30672081A>G | CA351808119 | TGFBR2 | c.898A>G (p.Lys300Glu) n.2494A>G c.973A>G (p.Lys325Glu) c.925A>G (p.Lys309Glu) c.850A>G (p.Lys284Glu) c.793A>G (p.Lys265Glu) | dbSNP |
3 | g.30672081A>T | CA351808120 | TGFBR2 | c.898A>T (p.Lys300Ter) n.2494A>T c.973A>T (p.Lys325Ter) c.925A>T (p.Lys309Ter) c.850A>T (p.Lys284Ter) c.793A>T (p.Lys265Ter) | dbSNP |
3 | g.30672082A>C | CA351808121 | TGFBR2 | c.899A>C (p.Lys300Thr) n.2495A>C c.974A>C (p.Lys325Thr) c.926A>C (p.Lys309Thr) c.851A>C (p.Lys284Thr) c.794A>C (p.Lys265Thr) | |
3 | g.30672082A>G | CA351808123 | TGFBR2 | c.899A>G (p.Lys300Arg) n.2495A>G c.974A>G (p.Lys325Arg) c.926A>G (p.Lys309Arg) c.851A>G (p.Lys284Arg) c.794A>G (p.Lys265Arg) | dbSNP |
3 | g.30672082A>T | CA351808122 | TGFBR2 | c.899A>T (p.Lys300Met) n.2495A>T c.974A>T (p.Lys325Met) c.926A>T (p.Lys309Met) c.851A>T (p.Lys284Met) c.794A>T (p.Lys265Met) | dbSNP |
3 | g.30672083G>A | CA433058881 | TGFBR2 | c.900G>A (p.Lys300=) n.2496G>A c.975G>A (p.Lys325=) c.927G>A (p.Lys309=) c.852G>A (p.Lys284=) c.795G>A (p.Lys265=) | dbSNP gnomAD v4 |
3 | g.30672083G>C | CA351808124 | TGFBR2 | c.900G>C (p.Lys300Asn) n.2496G>C c.975G>C (p.Lys325Asn) c.927G>C (p.Lys309Asn) c.852G>C (p.Lys284Asn) c.795G>C (p.Lys265Asn) | dbSNP |
3 | g.30672083G>T | CA351808125 | TGFBR2 | c.900G>T (p.Lys300Asn) n.2496G>T c.975G>T (p.Lys325Asn) c.927G>T (p.Lys309Asn) c.852G>T (p.Lys284Asn) c.795G>T (p.Lys265Asn) | ClinVar dbSNP |
3 | g.30672084C>A | CA351808126 | TGFBR2 | c.901C>A (p.His301Asn) n.2497C>A c.976C>A (p.His326Asn) c.928C>A (p.His310Asn) c.853C>A (p.His285Asn) c.796C>A (p.His266Asn) | |
3 | g.30672084C= | CA1354873116 | TGFBR2 | c.901C= (p.His301=) n.2497C= c.976C= (p.His326=) c.928C= (p.His310=) c.853C= (p.His285=) c.796C= (p.His266=) | |
3 | g.30672084C>G | CA351808127 | TGFBR2 | c.901C>G (p.His301Asp) n.2497C>G c.976C>G (p.His326Asp) c.928C>G (p.His310Asp) c.853C>G (p.His285Asp) c.796C>G (p.His266Asp) | dbSNP |
3 | g.30672084C>T | CA351808128 | TGFBR2 | c.901C>T (p.His301Tyr) n.2497C>T c.976C>T (p.His326Tyr) c.928C>T (p.His310Tyr) c.853C>T (p.His285Tyr) c.796C>T (p.His266Tyr) | ClinVar gnomAD v4 |
3 | g.30672085A= | CA1354873117 | TGFBR2 | c.902A= (p.His301=) n.2498A= c.977A= (p.His326=) c.929A= (p.His310=) c.854A= (p.His285=) c.797A= (p.His266=) | |
3 | g.30672085A>C | CA351808129 | TGFBR2 | c.902A>C (p.His301Pro) n.2498A>C c.977A>C (p.His326Pro) c.929A>C (p.His310Pro) c.854A>C (p.His285Pro) c.797A>C (p.His266Pro) | |
3 | g.30672085A>G | CA325027 | TGFBR2 | c.902A>G (p.His301Arg) n.2498A>G c.977A>G (p.His326Arg) c.929A>G (p.His310Arg) c.854A>G (p.His285Arg) c.797A>G (p.His266Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.30672085A>T | CA351808130 | TGFBR2 | c.902A>T (p.His301Leu) n.2498A>T c.977A>T (p.His326Leu) c.929A>T (p.His310Leu) c.854A>T (p.His285Leu) c.797A>T (p.His266Leu) | |
3 | g.30672086T>A | CA351808131 | TGFBR2 | c.903T>A (p.His301Gln) n.2499T>A c.978T>A (p.His326Gln) c.930T>A (p.His310Gln) c.855T>A (p.His285Gln) c.798T>A (p.His266Gln) | dbSNP |
3 | g.30672086T>C | CA433058883 | TGFBR2 | c.903T>C (p.His301=) n.2499T>C c.978T>C (p.His326=) c.930T>C (p.His310=) c.855T>C (p.His285=) c.798T>C (p.His266=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.30672086T>G | CA351808132 | TGFBR2 | c.903T>G (p.His301Gln) n.2499T>G c.978T>G (p.His326Gln) c.930T>G (p.His310Gln) c.855T>G (p.His285Gln) c.798T>G (p.His266Gln) | |
3 | g.30672086T= | CA1354873118 | TGFBR2 | c.903T= (p.His301=) n.2499T= c.978T= (p.His326=) c.930T= (p.His310=) c.855T= (p.His285=) c.798T= (p.His266=) | |
3 | g.30672087G>A | CA351808134 | TGFBR2 | c.904G>A (p.Glu302Lys) n.2500G>A c.979G>A (p.Glu327Lys) c.931G>A (p.Glu311Lys) c.856G>A (p.Glu286Lys) c.799G>A (p.Glu267Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.30672087G>C | CA351808135 | TGFBR2 | c.904G>C (p.Glu302Gln) n.2500G>C c.979G>C (p.Glu327Gln) c.931G>C (p.Glu311Gln) c.856G>C (p.Glu286Gln) c.799G>C (p.Glu267Gln) | dbSNP |
3 | g.30672087G>T | CA351808133 | TGFBR2 | c.904G>T (p.Glu302Ter) n.2500G>T c.979G>T (p.Glu327Ter) c.931G>T (p.Glu311Ter) c.856G>T (p.Glu286Ter) c.799G>T (p.Glu267Ter) | COSMIC COSMIC |
3 | g.30672088A= | CA1354873119 | TGFBR2 | c.905A= (p.Glu302=) n.2501A= c.980A= (p.Glu327=) c.932A= (p.Glu311=) c.857A= (p.Glu286=) c.800A= (p.Glu267=) | |
3 | g.30672088A>C | CA351808136 | TGFBR2 | c.905A>C (p.Glu302Ala) n.2501A>C c.980A>C (p.Glu327Ala) c.932A>C (p.Glu311Ala) c.857A>C (p.Glu286Ala) c.800A>C (p.Glu267Ala) | |
3 | g.30672088A>G | CA351808137 | TGFBR2 | c.905A>G (p.Glu302Gly) n.2501A>G c.980A>G (p.Glu327Gly) c.932A>G (p.Glu311Gly) c.857A>G (p.Glu286Gly) c.800A>G (p.Glu267Gly) | |
3 | g.30672088A>T | CA050112 | TGFBR2 | c.905A>T (p.Glu302Val) n.2501A>T c.980A>T (p.Glu327Val) c.932A>T (p.Glu311Val) c.857A>T (p.Glu286Val) c.800A>T (p.Glu267Val) | dbSNP ExAC gnomAD v2 |
3 | g.30672089G>A | CA71528263 | TGFBR2 | c.906G>A (p.Glu302=) n.2502G>A c.981G>A (p.Glu327=) c.933G>A (p.Glu311=) c.858G>A (p.Glu286=) c.801G>A (p.Glu267=) | ClinVar dbSNP gnomAD v4 |
3 | g.30672089G>C | CA351808138 | TGFBR2 | c.906G>C (p.Glu302Asp) n.2502G>C c.981G>C (p.Glu327Asp) c.933G>C (p.Glu311Asp) c.858G>C (p.Glu286Asp) c.801G>C (p.Glu267Asp) | dbSNP |
3 | g.30672089G= | CA1354873120 | TGFBR2 | c.906G= (p.Glu302=) n.2502G= c.981G= (p.Glu327=) c.933G= (p.Glu311=) c.858G= (p.Glu286=) c.801G= (p.Glu267=) | |
3 | g.30672089G>T | CA351808139 | TGFBR2 | c.906G>T (p.Glu302Asp) n.2502G>T c.981G>T (p.Glu327Asp) c.933G>T (p.Glu311Asp) c.858G>T (p.Glu286Asp) c.801G>T (p.Glu267Asp) | dbSNP |
3 | g.30672090A= | CA1354873121 | TGFBR2 | c.907A= (p.Asn303=) n.2503A= c.982A= (p.Asn328=) c.934A= (p.Asn312=) c.859A= (p.Asn287=) c.802A= (p.Asn268=) | |
3 | g.30672090A>C | CA050124 | TGFBR2 | c.907A>C (p.Asn303His) n.2503A>C c.982A>C (p.Asn328His) c.934A>C (p.Asn312His) c.859A>C (p.Asn287His) c.802A>C (p.Asn268His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30672090A>G | CA351808140 | TGFBR2 | c.907A>G (p.Asn303Asp) n.2503A>G c.982A>G (p.Asn328Asp) c.934A>G (p.Asn312Asp) c.859A>G (p.Asn287Asp) c.802A>G (p.Asn268Asp) | |
3 | g.30672090A>T | CA351808141 | TGFBR2 | c.907A>T (p.Asn303Tyr) n.2503A>T c.982A>T (p.Asn328Tyr) c.934A>T (p.Asn312Tyr) c.859A>T (p.Asn287Tyr) c.802A>T (p.Asn268Tyr) | dbSNP |
3 | g.30672091dup | CA2664867668 | TGFBR2 | c.908dup (p.Asn303LysfsTer9) n.2504dup c.983dup (p.Asn328LysfsTer9) c.935dup (p.Asn312LysfsTer9) c.860dup (p.Asn287LysfsTer9) c.803dup (p.Asn268LysfsTer9) | gnomAD v4 |
3 | g.30672091A>C | CA351808142 | TGFBR2 | c.908A>C (p.Asn303Thr) n.2504A>C c.983A>C (p.Asn328Thr) c.935A>C (p.Asn312Thr) c.860A>C (p.Asn287Thr) c.803A>C (p.Asn268Thr) | |
3 | g.30672091A>G | CA351808143 | TGFBR2 | c.908A>G (p.Asn303Ser) n.2504A>G c.983A>G (p.Asn328Ser) c.935A>G (p.Asn312Ser) c.860A>G (p.Asn287Ser) c.803A>G (p.Asn268Ser) | ClinVar dbSNP |
3 | g.30672091A>T | CA351808144 | TGFBR2 | c.908A>T (p.Asn303Ile) n.2504A>T c.983A>T (p.Asn328Ile) c.935A>T (p.Asn312Ile) c.860A>T (p.Asn287Ile) c.803A>T (p.Asn268Ile) | dbSNP |
3 | g.30672092C>A | CA351808145 | TGFBR2 | c.909C>A (p.Asn303Lys) n.2505C>A c.984C>A (p.Asn328Lys) c.936C>A (p.Asn312Lys) c.861C>A (p.Asn287Lys) c.804C>A (p.Asn268Lys) | dbSNP gnomAD v4 |
3 | g.30672092C>G | CA351808146 | TGFBR2 | c.909C>G (p.Asn303Lys) n.2505C>G c.984C>G (p.Asn328Lys) c.936C>G (p.Asn312Lys) c.861C>G (p.Asn287Lys) c.804C>G (p.Asn268Lys) | dbSNP |
3 | g.30672092C>T | CA433058885 | TGFBR2 | c.909C>T (p.Asn303=) n.2505C>T c.984C>T (p.Asn328=) c.936C>T (p.Asn312=) c.861C>T (p.Asn287=) c.804C>T (p.Asn268=) | dbSNP gnomAD v4 |
3 | g.30672093A= | CA1354873122 | TGFBR2 | c.910A= (p.Ile304=) n.2506A= c.985A= (p.Ile329=) c.937A= (p.Ile313=) c.862A= (p.Ile288=) c.805A= (p.Ile269=) | |
3 | g.30672093A>C | CA351808149 | TGFBR2 | c.910A>C (p.Ile304Leu) n.2506A>C c.985A>C (p.Ile329Leu) c.937A>C (p.Ile313Leu) c.862A>C (p.Ile288Leu) c.805A>C (p.Ile269Leu) | |
3 | g.30672093A>G | CA351808148 | TGFBR2 | c.910A>G (p.Ile304Val) n.2506A>G c.985A>G (p.Ile329Val) c.937A>G (p.Ile313Val) c.862A>G (p.Ile288Val) c.805A>G (p.Ile269Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.30672093A>T | CA351808147 | TGFBR2 | c.910A>T (p.Ile304Leu) n.2506A>T c.985A>T (p.Ile329Leu) c.937A>T (p.Ile313Leu) c.862A>T (p.Ile288Leu) c.805A>T (p.Ile269Leu) | dbSNP gnomAD v4 |
3 | g.30672094T>A | CA351808150 | TGFBR2 | c.911T>A (p.Ile304Lys) n.2507T>A c.986T>A (p.Ile329Lys) c.938T>A (p.Ile313Lys) c.863T>A (p.Ile288Lys) c.806T>A (p.Ile269Lys) | dbSNP |
3 | g.30672094T>C | CA351808151 | TGFBR2 | c.911T>C (p.Ile304Thr) n.2507T>C c.986T>C (p.Ile329Thr) c.938T>C (p.Ile313Thr) c.863T>C (p.Ile288Thr) c.806T>C (p.Ile269Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
3 | g.30672094T>G | CA351808152 | TGFBR2 | c.911T>G (p.Ile304Arg) n.2507T>G c.986T>G (p.Ile329Arg) c.938T>G (p.Ile313Arg) c.863T>G (p.Ile288Arg) c.806T>G (p.Ile269Arg) | dbSNP |
3 | g.30672094T= | CA1354873123 | TGFBR2 | c.911T= (p.Ile304=) n.2507T= c.986T= (p.Ile329=) c.938T= (p.Ile313=) c.863T= (p.Ile288=) c.806T= (p.Ile269=) | |
3 | g.30672095A= | CA1354873124 | TGFBR2 | c.912A= (p.Ile304=) n.2508A= c.987A= (p.Ile329=) c.939A= (p.Ile313=) c.864A= (p.Ile288=) c.807A= (p.Ile269=) | |
3 | g.30672095A>C | CA433058890 | TGFBR2 | c.912A>C (p.Ile304=) n.2508A>C c.987A>C (p.Ile329=) c.939A>C (p.Ile313=) c.864A>C (p.Ile288=) c.807A>C (p.Ile269=) | dbSNP |
3 | g.30672095A>G | CA351808153 | TGFBR2 | c.912A>G (p.Ile304Met) n.2508A>G c.987A>G (p.Ile329Met) c.939A>G (p.Ile313Met) c.864A>G (p.Ile288Met) c.807A>G (p.Ile269Met) | ClinVar dbSNP |
3 | g.30672095A>T | CA433058889 | TGFBR2 | c.912A>T (p.Ile304=) n.2508A>T c.987A>T (p.Ile329=) c.939A>T (p.Ile313=) c.864A>T (p.Ile288=) c.807A>T (p.Ile269=) | dbSNP |