WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99142694G>A | CA374230826 | TGFBR1 | c.757G>A (p.Gly253Ser) c.769G>A (p.Gly257Ser) c.538G>A (p.Gly180Ser) c.526G>A (p.Gly176Ser) c.*760G>A (n.*760G>A) c.964G>A (p.Gly322Ser) c.733G>A (p.Gly245Ser) c.976G>A (p.Gly326Ser) | |
| 9 | g.99142694G>C | CA374230827 | TGFBR1 | c.757G>C (p.Gly253Arg) c.769G>C (p.Gly257Arg) c.538G>C (p.Gly180Arg) c.526G>C (p.Gly176Arg) c.*760G>C (n.*760G>C) c.964G>C (p.Gly322Arg) c.733G>C (p.Gly245Arg) c.976G>C (p.Gly326Arg) | |
| 9 | g.99142694G>T | CA374230828 | TGFBR1 | c.757G>T (p.Gly253Cys) c.769G>T (p.Gly257Cys) c.538G>T (p.Gly180Cys) c.526G>T (p.Gly176Cys) c.*760G>T (n.*760G>T) c.964G>T (p.Gly322Cys) c.733G>T (p.Gly245Cys) c.976G>T (p.Gly326Cys) | |
| 9 | g.99142695G>A | CA322256 | TGFBR1 | c.758G>A (p.Gly253Asp) c.770G>A (p.Gly257Asp) c.539G>A (p.Gly180Asp) c.527G>A (p.Gly176Asp) c.*761G>A (n.*761G>A) c.965G>A (p.Gly322Asp) c.734G>A (p.Gly245Asp) c.977G>A (p.Gly326Asp) | ClinVar dbSNP COSMIC |
| 9 | g.99142695G>C | CA374230829 | TGFBR1 | c.758G>C (p.Gly253Ala) c.770G>C (p.Gly257Ala) c.539G>C (p.Gly180Ala) c.527G>C (p.Gly176Ala) c.*761G>C (n.*761G>C) c.965G>C (p.Gly322Ala) c.734G>C (p.Gly245Ala) c.977G>C (p.Gly326Ala) | |
| 9 | g.99142695G= | CA1867260239 | TGFBR1 | c.758G= (p.Gly253=) c.770G= (p.Gly257=) c.539G= (p.Gly180=) c.527G= (p.Gly176=) c.*761G= (n.*761G=) c.965G= (p.Gly322=) c.734G= (p.Gly245=) c.977G= (p.Gly326=) | |
| 9 | g.99142695G>T | CA374230831 | TGFBR1 | c.758G>T (p.Gly253Val) c.770G>T (p.Gly257Val) c.539G>T (p.Gly180Val) c.527G>T (p.Gly176Val) c.*761G>T (n.*761G>T) c.965G>T (p.Gly322Val) c.734G>T (p.Gly245Val) c.977G>T (p.Gly326Val) | |
| 9 | g.99142696T>A | CA466434531 | TGFBR1 | c.759T>A (p.Gly253=) c.771T>A (p.Gly257=) c.540T>A (p.Gly180=) c.528T>A (p.Gly176=) c.*762T>A (n.*762T>A) c.966T>A (p.Gly322=) c.735T>A (p.Gly245=) c.978T>A (p.Gly326=) | |
| 9 | g.99142696T>C | CA466434532 | TGFBR1 | c.759T>C (p.Gly253=) c.771T>C (p.Gly257=) c.540T>C (p.Gly180=) c.528T>C (p.Gly176=) c.*762T>C (n.*762T>C) c.966T>C (p.Gly322=) c.735T>C (p.Gly245=) c.978T>C (p.Gly326=) | |
| 9 | g.99142696T>G | CA466434533 | TGFBR1 | c.759T>G (p.Gly253=) c.771T>G (p.Gly257=) c.540T>G (p.Gly180=) c.528T>G (p.Gly176=) c.*762T>G (n.*762T>G) c.966T>G (p.Gly322=) c.735T>G (p.Gly245=) c.978T>G (p.Gly326=) | |
| 9 | g.99142696_99142697insTTTATACTTTTATGTACACATCCTTT | CA2560495551 | TGFBR1 | c.759_760insTTTATACTTTTATGTACACATCCTTT (p.Thr254PhefsTer21) c.771_772insTTTATACTTTTATGTACACATCCTTT (p.Thr258PhefsTer21) c.540_541insTTTATACTTTTATGTACACATCCTTT (p.Thr181PhefsTer21) c.528_529insTTTATACTTTTATGTACACATCCTTT (p.Thr177PhefsTer21) c.*762_*763insTTTATACTTTTATGTACACATCCTTT (n.*762_*763insTTTATACTTTTATGTACACATCCTTT) c.966_967insTTTATACTTTTATGTACACATCCTTT (p.Thr323PhefsTer21) c.735_736insTTTATACTTTTATGTACACATCCTTT (p.Thr246PhefsTer21) c.978_979insTTTATACTTTTATGTACACATCCTTT (p.Thr327PhefsTer21) | |
| 9 | g.99142697A>C | CA374230834 | TGFBR1 | c.760A>C (p.Thr254Pro) c.772A>C (p.Thr258Pro) c.541A>C (p.Thr181Pro) c.529A>C (p.Thr177Pro) c.*763A>C (n.*763A>C) c.967A>C (p.Thr323Pro) c.736A>C (p.Thr246Pro) c.979A>C (p.Thr327Pro) | |
| 9 | g.99142697A>G | CA374230836 | TGFBR1 | c.760A>G (p.Thr254Ala) c.772A>G (p.Thr258Ala) c.541A>G (p.Thr181Ala) c.529A>G (p.Thr177Ala) c.*763A>G (n.*763A>G) c.967A>G (p.Thr323Ala) c.736A>G (p.Thr246Ala) c.979A>G (p.Thr327Ala) | |
| 9 | g.99142697A>T | CA374230833 | TGFBR1 | c.760A>T (p.Thr254Ser) c.772A>T (p.Thr258Ser) c.541A>T (p.Thr181Ser) c.529A>T (p.Thr177Ser) c.*763A>T (n.*763A>T) c.967A>T (p.Thr323Ser) c.736A>T (p.Thr246Ser) c.979A>T (p.Thr327Ser) | |
| 9 | g.99142698C>A | CA374230838 | TGFBR1 | c.761C>A (p.Thr254Asn) c.773C>A (p.Thr258Asn) c.542C>A (p.Thr181Asn) c.530C>A (p.Thr177Asn) c.*764C>A (n.*764C>A) c.968C>A (p.Thr323Asn) c.737C>A (p.Thr246Asn) c.980C>A (p.Thr327Asn) | dbSNP |
| 9 | g.99142698C>G | CA374230839 | TGFBR1 | c.761C>G (p.Thr254Ser) c.773C>G (p.Thr258Ser) c.542C>G (p.Thr181Ser) c.530C>G (p.Thr177Ser) c.*764C>G (n.*764C>G) c.968C>G (p.Thr323Ser) c.737C>G (p.Thr246Ser) c.980C>G (p.Thr327Ser) | |
| 9 | g.99142698C>T | CA374230841 | TGFBR1 | c.761C>T (p.Thr254Ile) c.773C>T (p.Thr258Ile) c.542C>T (p.Thr181Ile) c.530C>T (p.Thr177Ile) c.*764C>T (n.*764C>T) c.968C>T (p.Thr323Ile) c.737C>T (p.Thr246Ile) c.980C>T (p.Thr327Ile) | dbSNP |
| 9 | g.99142699C>A | CA466434534 | TGFBR1 | c.762C>A (p.Thr254=) c.774C>A (p.Thr258=) c.543C>A (p.Thr181=) c.531C>A (p.Thr177=) c.*765C>A (n.*765C>A) c.969C>A (p.Thr323=) c.738C>A (p.Thr246=) c.981C>A (p.Thr327=) | gnomAD v4 |
| 9 | g.99142699C= | CA1867260242 | TGFBR1 | c.762C= (p.Thr254=) c.774C= (p.Thr258=) c.543C= (p.Thr181=) c.531C= (p.Thr177=) c.*765C= (n.*765C=) c.969C= (p.Thr323=) c.738C= (p.Thr246=) c.981C= (p.Thr327=) | |
| 9 | g.99142699C>G | CA466434536 | TGFBR1 | c.762C>G (p.Thr254=) c.774C>G (p.Thr258=) c.543C>G (p.Thr181=) c.531C>G (p.Thr177=) c.*765C>G (n.*765C>G) c.969C>G (p.Thr323=) c.738C>G (p.Thr246=) c.981C>G (p.Thr327=) | |
| 9 | g.99142699C>T | CA466434535 | TGFBR1 | c.762C>T (p.Thr254=) c.774C>T (p.Thr258=) c.543C>T (p.Thr181=) c.531C>T (p.Thr177=) c.*765C>T (n.*765C>T) c.969C>T (p.Thr323=) c.738C>T (p.Thr246=) c.981C>T (p.Thr327=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142700C>A | CA374230845 | TGFBR1 | c.763C>A (p.Gln255Lys) c.775C>A (p.Gln259Lys) c.544C>A (p.Gln182Lys) c.532C>A (p.Gln178Lys) c.*766C>A (n.*766C>A) c.970C>A (p.Gln324Lys) c.739C>A (p.Gln247Lys) c.982C>A (p.Gln328Lys) | |
| 9 | g.99142700C>G | CA374230846 | TGFBR1 | c.763C>G (p.Gln255Glu) c.775C>G (p.Gln259Glu) c.544C>G (p.Gln182Glu) c.532C>G (p.Gln178Glu) c.*766C>G (n.*766C>G) c.970C>G (p.Gln324Glu) c.739C>G (p.Gln247Glu) c.982C>G (p.Gln328Glu) | |
| 9 | g.99142700C>T | CA374230848 | TGFBR1 | c.763C>T (p.Gln255Ter) c.775C>T (p.Gln259Ter) c.544C>T (p.Gln182Ter) c.532C>T (p.Gln178Ter) c.*766C>T (n.*766C>T) c.970C>T (p.Gln324Ter) c.739C>T (p.Gln247Ter) c.982C>T (p.Gln328Ter) | |
| 9 | g.99142701A>C | CA374230849 | TGFBR1 | c.764A>C (p.Gln255Pro) c.776A>C (p.Gln259Pro) c.545A>C (p.Gln182Pro) c.533A>C (p.Gln178Pro) c.*767A>C (n.*767A>C) c.971A>C (p.Gln324Pro) c.740A>C (p.Gln247Pro) c.983A>C (p.Gln328Pro) | |
| 9 | g.99142701A>G | CA374230851 | TGFBR1 | c.764A>G (p.Gln255Arg) c.776A>G (p.Gln259Arg) c.545A>G (p.Gln182Arg) c.533A>G (p.Gln178Arg) c.*767A>G (n.*767A>G) c.971A>G (p.Gln324Arg) c.740A>G (p.Gln247Arg) c.983A>G (p.Gln328Arg) | COSMIC |
| 9 | g.99142701A>T | CA374230853 | TGFBR1 | c.764A>T (p.Gln255Leu) c.776A>T (p.Gln259Leu) c.545A>T (p.Gln182Leu) c.533A>T (p.Gln178Leu) c.*767A>T (n.*767A>T) c.971A>T (p.Gln324Leu) c.740A>T (p.Gln247Leu) c.983A>T (p.Gln328Leu) | |
| 9 | g.99142702A>C | CA374230854 | TGFBR1 | c.765A>C (p.Gln255His) c.777A>C (p.Gln259His) c.546A>C (p.Gln182His) c.534A>C (p.Gln178His) c.*768A>C (n.*768A>C) c.972A>C (p.Gln324His) c.741A>C (p.Gln247His) c.984A>C (p.Gln328His) | |
| 9 | g.99142702A>G | CA466434537 | TGFBR1 | c.765A>G (p.Gln255=) c.777A>G (p.Gln259=) c.546A>G (p.Gln182=) c.534A>G (p.Gln178=) c.*768A>G (n.*768A>G) c.972A>G (p.Gln324=) c.741A>G (p.Gln247=) c.984A>G (p.Gln328=) | |
| 9 | g.99142702A>T | CA374230855 | TGFBR1 | c.765A>T (p.Gln255His) c.777A>T (p.Gln259His) c.546A>T (p.Gln182His) c.534A>T (p.Gln178His) c.*768A>T (n.*768A>T) c.972A>T (p.Gln324His) c.741A>T (p.Gln247His) c.984A>T (p.Gln328His) | |
| 9 | g.99142703G>A | CA374230857 | TGFBR1 | c.766G>A (p.Gly256Arg) c.778G>A (p.Gly260Arg) c.547G>A (p.Gly183Arg) c.535G>A (p.Gly179Arg) c.*769G>A (n.*769G>A) c.973G>A (p.Gly325Arg) c.742G>A (p.Gly248Arg) c.985G>A (p.Gly329Arg) | |
| 9 | g.99142703G>C | CA374230858 | TGFBR1 | c.766G>C (p.Gly256Arg) c.778G>C (p.Gly260Arg) c.547G>C (p.Gly183Arg) c.535G>C (p.Gly179Arg) c.*769G>C (n.*769G>C) c.973G>C (p.Gly325Arg) c.742G>C (p.Gly248Arg) c.985G>C (p.Gly329Arg) | ClinVar |
| 9 | g.99142703G>T | CA374230856 | TGFBR1 | c.766G>T (p.Gly256Ter) c.778G>T (p.Gly260Ter) c.547G>T (p.Gly183Ter) c.535G>T (p.Gly179Ter) c.*769G>T (n.*769G>T) c.973G>T (p.Gly325Ter) c.742G>T (p.Gly248Ter) c.985G>T (p.Gly329Ter) | |
| 9 | g.99142704G>A | CA320416 | TGFBR1 | c.766+1G>A (n.766+1G>A) c.778+1G>A (n.778+1G>A) c.547+1G>A (n.547+1G>A) c.535+1G>A (n.535+1G>A) c.*769+1G>A (n.*769+1G>A) c.973+1G>A (n.973+1G>A) c.742+1G>A (n.742+1G>A) c.985+1G>A (n.985+1G>A) | ClinVar dbSNP |
| 9 | g.99142704G>C | CA374230860 | TGFBR1 | c.766+1G>C (n.766+1G>C) c.778+1G>C (n.778+1G>C) c.547+1G>C (n.547+1G>C) c.535+1G>C (n.535+1G>C) c.*769+1G>C (n.*769+1G>C) c.973+1G>C (n.973+1G>C) c.742+1G>C (n.742+1G>C) c.985+1G>C (n.985+1G>C) | |
| 9 | g.99142704G= | CA1867260248 | TGFBR1 | c.766+1G= (n.766+1G=) c.778+1G= (n.778+1G=) c.547+1G= (n.547+1G=) c.535+1G= (n.535+1G=) c.*769+1G= (n.*769+1G=) c.973+1G= (n.973+1G=) c.742+1G= (n.742+1G=) c.985+1G= (n.985+1G=) | |
| 9 | g.99142704G>T | CA374230861 | TGFBR1 | c.766+1G>T (n.766+1G>T) c.778+1G>T (n.778+1G>T) c.547+1G>T (n.547+1G>T) c.535+1G>T (n.535+1G>T) c.*769+1G>T (n.*769+1G>T) c.973+1G>T (n.973+1G>T) c.742+1G>T (n.742+1G>T) c.985+1G>T (n.985+1G>T) | ClinVar |
| 9 | g.99142705T>A | CA374230864 | TGFBR1 | c.766+2T>A (n.766+2T>A) c.778+2T>A (n.778+2T>A) c.547+2T>A (n.547+2T>A) c.535+2T>A (n.535+2T>A) c.*769+2T>A (n.*769+2T>A) c.973+2T>A (n.973+2T>A) c.742+2T>A (n.742+2T>A) c.985+2T>A (n.985+2T>A) | |
| 9 | g.99142705T>C | CA374230865 | TGFBR1 | c.766+2T>C (n.766+2T>C) c.778+2T>C (n.778+2T>C) c.547+2T>C (n.547+2T>C) c.535+2T>C (n.535+2T>C) c.*769+2T>C (n.*769+2T>C) c.973+2T>C (n.973+2T>C) c.742+2T>C (n.742+2T>C) c.985+2T>C (n.985+2T>C) | |
| 9 | g.99142705T>G | CA374230866 | TGFBR1 | c.766+2T>G (n.766+2T>G) c.778+2T>G (n.778+2T>G) c.547+2T>G (n.547+2T>G) c.535+2T>G (n.535+2T>G) c.*769+2T>G (n.*769+2T>G) c.973+2T>G (n.973+2T>G) c.742+2T>G (n.742+2T>G) c.985+2T>G (n.985+2T>G) | |
| 9 | g.99142706A= | CA1867260253 | TGFBR1 | c.766+3A= (n.766+3A=) c.778+3A= (n.778+3A=) c.547+3A= (n.547+3A=) c.535+3A= (n.535+3A=) c.*769+3A= (n.*769+3A=) c.973+3A= (n.973+3A=) c.742+3A= (n.742+3A=) c.985+3A= (n.985+3A=) | |
| 9 | g.99142706A>G | CA589361878 | TGFBR1 | c.766+3A>G (n.766+3A>G) c.778+3A>G (n.778+3A>G) c.547+3A>G (n.547+3A>G) c.535+3A>G (n.535+3A>G) c.*769+3A>G (n.*769+3A>G) c.973+3A>G (n.973+3A>G) c.742+3A>G (n.742+3A>G) c.985+3A>G (n.985+3A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142708T>A | CA1867260258 | TGFBR1 | c.766+5T>A (n.766+5T>A) c.778+5T>A (n.778+5T>A) c.547+5T>A (n.547+5T>A) c.535+5T>A (n.535+5T>A) c.*769+5T>A (n.*769+5T>A) c.973+5T>A (n.973+5T>A) c.742+5T>A (n.742+5T>A) c.985+5T>A (n.985+5T>A) | dbSNP |
| 9 | g.99142708T= | CA1867260257 | TGFBR1 | c.766+5T= (n.766+5T=) c.778+5T= (n.778+5T=) c.547+5T= (n.547+5T=) c.535+5T= (n.535+5T=) c.*769+5T= (n.*769+5T=) c.973+5T= (n.973+5T=) c.742+5T= (n.742+5T=) c.985+5T= (n.985+5T=) | |
| 9 | g.99142710C= | CA1867260260 | TGFBR1 | c.766+7C= (n.766+7C=) c.778+7C= (n.778+7C=) c.547+7C= (n.547+7C=) c.535+7C= (n.535+7C=) c.*769+7C= (n.*769+7C=) c.973+7C= (n.973+7C=) c.742+7C= (n.742+7C=) c.985+7C= (n.985+7C=) | |
| 9 | g.99142710C>G | CA589361879 | TGFBR1 | c.766+7C>G (n.766+7C>G) c.778+7C>G (n.778+7C>G) c.547+7C>G (n.547+7C>G) c.535+7C>G (n.535+7C>G) c.*769+7C>G (n.*769+7C>G) c.973+7C>G (n.973+7C>G) c.742+7C>G (n.742+7C>G) c.985+7C>G (n.985+7C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99142710C>T | CA2739264891 | TGFBR1 | c.766+7C>T (n.766+7C>T) c.778+7C>T (n.778+7C>T) c.547+7C>T (n.547+7C>T) c.535+7C>T (n.535+7C>T) c.*769+7C>T (n.*769+7C>T) c.973+7C>T (n.973+7C>T) c.742+7C>T (n.742+7C>T) c.985+7C>T (n.985+7C>T) | ClinVar |
| 9 | g.99142711T>C | CA2690966009 | TGFBR1 | c.766+8T>C (n.766+8T>C) c.778+8T>C (n.778+8T>C) c.547+8T>C (n.547+8T>C) c.535+8T>C (n.535+8T>C) c.*769+8T>C (n.*769+8T>C) c.973+8T>C (n.973+8T>C) c.742+8T>C (n.742+8T>C) c.985+8T>C (n.985+8T>C) | gnomAD v4 |
| 9 | g.99142712A= | CA1867260261 | TGFBR1 | c.766+9A= (n.766+9A=) c.778+9A= (n.778+9A=) c.547+9A= (n.547+9A=) c.535+9A= (n.535+9A=) c.*769+9A= (n.*769+9A=) c.973+9A= (n.973+9A=) c.742+9A= (n.742+9A=) c.985+9A= (n.985+9A=) | |
| 9 | g.99142712A>G | CA043553 | TGFBR1 | c.766+9A>G (n.766+9A>G) c.778+9A>G (n.778+9A>G) c.547+9A>G (n.547+9A>G) c.535+9A>G (n.535+9A>G) c.*769+9A>G (n.*769+9A>G) c.973+9A>G (n.973+9A>G) c.742+9A>G (n.742+9A>G) c.985+9A>G (n.985+9A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |