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.99137884_99137895del | CA645563374 | TGFBR1 | c.393_404del (p.Ile132_Thr135del) c.405_416del (p.Ile136_Thr139del) c.380-4652_380-4641del (n.380-4652_380-4641del) c.162_173del (p.Ile55_Thr58del) c.*396_*407del (n.*396_*407del) c.600_611del (p.Ile201_Thr204del) c.369_380del (p.Ile124_Thr127del) c.612_623del (p.Ile205_Thr208del) | COSMIC |
| 9 | g.99137889C>A | CA374229406 | TGFBR1 | c.398C>A (p.Ala133Glu) c.410C>A (p.Ala137Glu) c.380-4647C>A (n.380-4647C>A) c.167C>A (p.Ala56Glu) c.*401C>A (n.*401C>A) c.605C>A (p.Ala202Glu) c.374C>A (p.Ala125Glu) c.617C>A (p.Ala206Glu) | dbSNP |
| 9 | g.99137889C= | CA1867255615 | TGFBR1 | c.398C= (p.Ala133=) c.410C= (p.Ala137=) c.380-4647C= (n.380-4647C=) c.167C= (p.Ala56=) c.*401C= (n.*401C=) c.605C= (p.Ala202=) c.374C= (p.Ala125=) c.617C= (p.Ala206=) | |
| 9 | g.99137889C>G | CA374229402 | TGFBR1 | c.398C>G (p.Ala133Gly) c.410C>G (p.Ala137Gly) c.380-4647C>G (n.380-4647C>G) c.167C>G (p.Ala56Gly) c.*401C>G (n.*401C>G) c.605C>G (p.Ala202Gly) c.374C>G (p.Ala125Gly) c.617C>G (p.Ala206Gly) | dbSNP gnomAD v4 |
| 9 | g.99137889C>T | CA374229405 | TGFBR1 | c.398C>T (p.Ala133Val) c.410C>T (p.Ala137Val) c.380-4647C>T (n.380-4647C>T) c.167C>T (p.Ala56Val) c.*401C>T (n.*401C>T) c.605C>T (p.Ala202Val) c.374C>T (p.Ala125Val) c.617C>T (p.Ala206Val) | ClinVar dbSNP COSMIC |
| 9 | g.99137890G>A | CA042649 | TGFBR1 | c.399G>A (p.Ala133=) c.411G>A (p.Ala137=) c.380-4646G>A (n.380-4646G>A) c.168G>A (p.Ala56=) c.*402G>A (n.*402G>A) c.606G>A (p.Ala202=) c.375G>A (p.Ala125=) c.618G>A (p.Ala206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99137890G>C | CA466434147 | TGFBR1 | c.399G>C (p.Ala133=) c.411G>C (p.Ala137=) c.380-4646G>C (n.380-4646G>C) c.168G>C (p.Ala56=) c.*402G>C (n.*402G>C) c.606G>C (p.Ala202=) c.375G>C (p.Ala125=) c.618G>C (p.Ala206=) | ClinVar dbSNP |
| 9 | g.99137890G= | CA1867255618 | TGFBR1 | c.399G= (p.Ala133=) c.411G= (p.Ala137=) c.380-4646G= (n.380-4646G=) c.168G= (p.Ala56=) c.*402G= (n.*402G=) c.606G= (p.Ala202=) c.375G= (p.Ala125=) c.618G= (p.Ala206=) | |
| 9 | g.99137890G>T | CA466434148 | TGFBR1 | c.399G>T (p.Ala133=) c.411G>T (p.Ala137=) c.380-4646G>T (n.380-4646G>T) c.168G>T (p.Ala56=) c.*402G>T (n.*402G>T) c.606G>T (p.Ala202=) c.375G>T (p.Ala125=) c.618G>T (p.Ala206=) | dbSNP gnomAD v4 |
| 9 | g.99137891_99137902dup | CA2695210823 | TGFBR1 | c.400_411dup (p.Val137_Leu138insArgThrIleVal) c.412_423dup (p.Val141_Leu142insArgThrIleVal) c.380-4645_380-4634dup (n.380-4645_380-4634dup) c.169_180dup (p.Val60_Leu61insArgThrIleVal) c.*403_*414dup (n.*403_*414dup) c.607_618dup (p.Val206_Leu207insArgThrIleVal) c.376_387dup (p.Val129_Leu130insArgThrIleVal) c.619_630dup (p.Val210_Leu211insArgThrIleVal) | |
| 9 | g.99137891A>C | CA466434149 | TGFBR1 | c.400A>C (p.Arg134=) c.412A>C (p.Arg138=) c.380-4645A>C (n.380-4645A>C) c.169A>C (p.Arg57=) c.*403A>C (n.*403A>C) c.607A>C (p.Arg203=) c.376A>C (p.Arg126=) c.619A>C (p.Arg207=) | |
| 9 | g.99137891A>G | CA374229409 | TGFBR1 | c.400A>G (p.Arg134Gly) c.412A>G (p.Arg138Gly) c.380-4645A>G (n.380-4645A>G) c.169A>G (p.Arg57Gly) c.*403A>G (n.*403A>G) c.607A>G (p.Arg203Gly) c.376A>G (p.Arg126Gly) c.619A>G (p.Arg207Gly) | ClinVar dbSNP |
| 9 | g.99137891A>T | CA374229410 | TGFBR1 | c.400A>T (p.Arg134Ter) c.412A>T (p.Arg138Ter) c.380-4645A>T (n.380-4645A>T) c.169A>T (p.Arg57Ter) c.*403A>T (n.*403A>T) c.607A>T (p.Arg203Ter) c.376A>T (p.Arg126Ter) c.619A>T (p.Arg207Ter) | dbSNP |
| 9 | g.99137892G>A | CA374229411 | TGFBR1 | c.401G>A (p.Arg134Lys) c.413G>A (p.Arg138Lys) c.380-4644G>A (n.380-4644G>A) c.170G>A (p.Arg57Lys) c.*404G>A (n.*404G>A) c.608G>A (p.Arg203Lys) c.377G>A (p.Arg126Lys) c.620G>A (p.Arg207Lys) | dbSNP |
| 9 | g.99137892G>C | CA374229412 | TGFBR1 | c.401G>C (p.Arg134Thr) c.413G>C (p.Arg138Thr) c.380-4644G>C (n.380-4644G>C) c.170G>C (p.Arg57Thr) c.*404G>C (n.*404G>C) c.608G>C (p.Arg203Thr) c.377G>C (p.Arg126Thr) c.620G>C (p.Arg207Thr) | dbSNP |
| 9 | g.99137892G>T | CA374229413 | TGFBR1 | c.401G>T (p.Arg134Ile) c.413G>T (p.Arg138Ile) c.380-4644G>T (n.380-4644G>T) c.170G>T (p.Arg57Ile) c.*404G>T (n.*404G>T) c.608G>T (p.Arg203Ile) c.377G>T (p.Arg126Ile) c.620G>T (p.Arg207Ile) | dbSNP |
| 9 | g.99137893A>C | CA374229415 | TGFBR1 | c.402A>C (p.Arg134Ser) c.414A>C (p.Arg138Ser) c.380-4643A>C (n.380-4643A>C) c.171A>C (p.Arg57Ser) c.*405A>C (n.*405A>C) c.609A>C (p.Arg203Ser) c.378A>C (p.Arg126Ser) c.621A>C (p.Arg207Ser) | dbSNP |
| 9 | g.99137893A>G | CA466434151 | TGFBR1 | c.402A>G (p.Arg134=) c.414A>G (p.Arg138=) c.380-4643A>G (n.380-4643A>G) c.171A>G (p.Arg57=) c.*405A>G (n.*405A>G) c.609A>G (p.Arg203=) c.378A>G (p.Arg126=) c.621A>G (p.Arg207=) | |
| 9 | g.99137893A>T | CA374229417 | TGFBR1 | c.402A>T (p.Arg134Ser) c.414A>T (p.Arg138Ser) c.380-4643A>T (n.380-4643A>T) c.171A>T (p.Arg57Ser) c.*405A>T (n.*405A>T) c.609A>T (p.Arg203Ser) c.378A>T (p.Arg126Ser) c.621A>T (p.Arg207Ser) | dbSNP |
| 9 | g.99137894A>C | CA374229418 | TGFBR1 | c.403A>C (p.Thr135Pro) c.415A>C (p.Thr139Pro) c.380-4642A>C (n.380-4642A>C) c.172A>C (p.Thr58Pro) c.*406A>C (n.*406A>C) c.610A>C (p.Thr204Pro) c.379A>C (p.Thr127Pro) c.622A>C (p.Thr208Pro) | |
| 9 | g.99137894A>G | CA374229420 | TGFBR1 | c.403A>G (p.Thr135Ala) c.415A>G (p.Thr139Ala) c.380-4642A>G (n.380-4642A>G) c.172A>G (p.Thr58Ala) c.*406A>G (n.*406A>G) c.610A>G (p.Thr204Ala) c.379A>G (p.Thr127Ala) c.622A>G (p.Thr208Ala) | |
| 9 | g.99137894A>T | CA374229421 | TGFBR1 | c.403A>T (p.Thr135Ser) c.415A>T (p.Thr139Ser) c.380-4642A>T (n.380-4642A>T) c.172A>T (p.Thr58Ser) c.*406A>T (n.*406A>T) c.610A>T (p.Thr204Ser) c.379A>T (p.Thr127Ser) c.622A>T (p.Thr208Ser) | dbSNP |
| 9 | g.99137895C>A | CA374229425 | TGFBR1 | c.404C>A (p.Thr135Asn) c.416C>A (p.Thr139Asn) c.380-4641C>A (n.380-4641C>A) c.173C>A (p.Thr58Asn) c.*407C>A (n.*407C>A) c.611C>A (p.Thr204Asn) c.380C>A (p.Thr127Asn) c.623C>A (p.Thr208Asn) | |
| 9 | g.99137895C= | CA1867255624 | TGFBR1 | c.404C= (p.Thr135=) c.416C= (p.Thr139=) c.380-4641C= (n.380-4641C=) c.173C= (p.Thr58=) c.*407C= (n.*407C=) c.611C= (p.Thr204=) c.380C= (p.Thr127=) c.623C= (p.Thr208=) | |
| 9 | g.99137895C>G | CA374229424 | TGFBR1 | c.404C>G (p.Thr135Ser) c.416C>G (p.Thr139Ser) c.380-4641C>G (n.380-4641C>G) c.173C>G (p.Thr58Ser) c.*407C>G (n.*407C>G) c.611C>G (p.Thr204Ser) c.380C>G (p.Thr127Ser) c.623C>G (p.Thr208Ser) | dbSNP |
| 9 | g.99137895C>T | CA10587681 | TGFBR1 | c.404C>T (p.Thr135Ile) c.416C>T (p.Thr139Ile) c.380-4641C>T (n.380-4641C>T) c.173C>T (p.Thr58Ile) c.*407C>T (n.*407C>T) c.611C>T (p.Thr204Ile) c.380C>T (p.Thr127Ile) c.623C>T (p.Thr208Ile) | ClinVar dbSNP |
| 9 | g.99137896T>A | CA466434152 | TGFBR1 | c.405T>A (p.Thr135=) c.417T>A (p.Thr139=) c.380-4640T>A (n.380-4640T>A) c.174T>A (p.Thr58=) c.*408T>A (n.*408T>A) c.612T>A (p.Thr204=) c.381T>A (p.Thr127=) c.624T>A (p.Thr208=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99137896T>C | CA466434153 | TGFBR1 | c.405T>C (p.Thr135=) c.417T>C (p.Thr139=) c.380-4640T>C (n.380-4640T>C) c.174T>C (p.Thr58=) c.*408T>C (n.*408T>C) c.612T>C (p.Thr204=) c.381T>C (p.Thr127=) c.624T>C (p.Thr208=) | |
| 9 | g.99137896T>G | CA466434154 | TGFBR1 | c.405T>G (p.Thr135=) c.417T>G (p.Thr139=) c.380-4640T>G (n.380-4640T>G) c.174T>G (p.Thr58=) c.*408T>G (n.*408T>G) c.612T>G (p.Thr204=) c.381T>G (p.Thr127=) c.624T>G (p.Thr208=) | gnomAD v4 |
| 9 | g.99137896T= | CA1867255628 | TGFBR1 | c.405T= (p.Thr135=) c.417T= (p.Thr139=) c.380-4640T= (n.380-4640T=) c.174T= (p.Thr58=) c.*408T= (n.*408T=) c.612T= (p.Thr204=) c.381T= (p.Thr127=) c.624T= (p.Thr208=) | |
| 9 | g.99137897A= | CA1867255631 | TGFBR1 | c.406A= (p.Ile136=) c.418A= (p.Ile140=) c.380-4639A= (n.380-4639A=) c.175A= (p.Ile59=) c.*409A= (n.*409A=) c.613A= (p.Ile205=) c.382A= (p.Ile128=) c.625A= (p.Ile209=) | |
| 9 | g.99137897A>C | CA374229427 | TGFBR1 | c.406A>C (p.Ile136Leu) c.418A>C (p.Ile140Leu) c.380-4639A>C (n.380-4639A>C) c.175A>C (p.Ile59Leu) c.*409A>C (n.*409A>C) c.613A>C (p.Ile205Leu) c.382A>C (p.Ile128Leu) c.625A>C (p.Ile209Leu) | |
| 9 | g.99137897A>G | CA324028 | TGFBR1 | c.406A>G (p.Ile136Val) c.418A>G (p.Ile140Val) c.380-4639A>G (n.380-4639A>G) c.175A>G (p.Ile59Val) c.*409A>G (n.*409A>G) c.613A>G (p.Ile205Val) c.382A>G (p.Ile128Val) c.625A>G (p.Ile209Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99137897A>T | CA374229429 | TGFBR1 | c.406A>T (p.Ile136Phe) c.418A>T (p.Ile140Phe) c.380-4639A>T (n.380-4639A>T) c.175A>T (p.Ile59Phe) c.*409A>T (n.*409A>T) c.613A>T (p.Ile205Phe) c.382A>T (p.Ile128Phe) c.625A>T (p.Ile209Phe) | dbSNP |
| 9 | g.99137898T>A | CA374229431 | TGFBR1 | c.407T>A (p.Ile136Asn) c.419T>A (p.Ile140Asn) c.380-4638T>A (n.380-4638T>A) c.176T>A (p.Ile59Asn) c.*410T>A (n.*410T>A) c.614T>A (p.Ile205Asn) c.383T>A (p.Ile128Asn) c.626T>A (p.Ile209Asn) | |
| 9 | g.99137898T>C | CA325251 | TGFBR1 | c.407T>C (p.Ile136Thr) c.419T>C (p.Ile140Thr) c.380-4638T>C (n.380-4638T>C) c.176T>C (p.Ile59Thr) c.*410T>C (n.*410T>C) c.614T>C (p.Ile205Thr) c.383T>C (p.Ile128Thr) c.626T>C (p.Ile209Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99137898T>G | CA374229433 | TGFBR1 | c.407T>G (p.Ile136Ser) c.419T>G (p.Ile140Ser) c.380-4638T>G (n.380-4638T>G) c.176T>G (p.Ile59Ser) c.*410T>G (n.*410T>G) c.614T>G (p.Ile205Ser) c.383T>G (p.Ile128Ser) c.626T>G (p.Ile209Ser) | |
| 9 | g.99137898T= | CA1867255639 | TGFBR1 | c.407T= (p.Ile136=) c.419T= (p.Ile140=) c.380-4638T= (n.380-4638T=) c.176T= (p.Ile59=) c.*410T= (n.*410T=) c.614T= (p.Ile205=) c.383T= (p.Ile128=) c.626T= (p.Ile209=) | |
| 9 | g.99137899T>A | CA466434155 | TGFBR1 | c.408T>A (p.Ile136=) c.420T>A (p.Ile140=) c.380-4637T>A (n.380-4637T>A) c.177T>A (p.Ile59=) c.*411T>A (n.*411T>A) c.615T>A (p.Ile205=) c.384T>A (p.Ile128=) c.627T>A (p.Ile209=) | |
| 9 | g.99137899T>C | CA466434156 | TGFBR1 | c.408T>C (p.Ile136=) c.420T>C (p.Ile140=) c.380-4637T>C (n.380-4637T>C) c.177T>C (p.Ile59=) c.*411T>C (n.*411T>C) c.615T>C (p.Ile205=) c.384T>C (p.Ile128=) c.627T>C (p.Ile209=) | dbSNP |
| 9 | g.99137899T>G | CA374229434 | TGFBR1 | c.408T>G (p.Ile136Met) c.420T>G (p.Ile140Met) c.380-4637T>G (n.380-4637T>G) c.177T>G (p.Ile59Met) c.*411T>G (n.*411T>G) c.615T>G (p.Ile205Met) c.384T>G (p.Ile128Met) c.627T>G (p.Ile209Met) | ClinVar |
| 9 | g.99137900G>A | CA374229435 | TGFBR1 | c.409G>A (p.Val137Met) c.421G>A (p.Val141Met) c.380-4636G>A (n.380-4636G>A) c.178G>A (p.Val60Met) c.*412G>A (n.*412G>A) c.616G>A (p.Val206Met) c.385G>A (p.Val129Met) c.628G>A (p.Val210Met) | dbSNP |
| 9 | g.99137900G>C | CA374229436 | TGFBR1 | c.409G>C (p.Val137Leu) c.421G>C (p.Val141Leu) c.380-4636G>C (n.380-4636G>C) c.178G>C (p.Val60Leu) c.*412G>C (n.*412G>C) c.616G>C (p.Val206Leu) c.385G>C (p.Val129Leu) c.628G>C (p.Val210Leu) | dbSNP |
| 9 | g.99137900G>T | CA374229438 | TGFBR1 | c.409G>T (p.Val137Leu) c.421G>T (p.Val141Leu) c.380-4636G>T (n.380-4636G>T) c.178G>T (p.Val60Leu) c.*412G>T (n.*412G>T) c.616G>T (p.Val206Leu) c.385G>T (p.Val129Leu) c.628G>T (p.Val210Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99137901T>A | CA374229440 | TGFBR1 | c.410T>A (p.Val137Glu) c.422T>A (p.Val141Glu) c.380-4635T>A (n.380-4635T>A) c.179T>A (p.Val60Glu) c.*413T>A (n.*413T>A) c.617T>A (p.Val206Glu) c.386T>A (p.Val129Glu) c.629T>A (p.Val210Glu) | dbSNP |
| 9 | g.99137901T>C | CA374229442 | TGFBR1 | c.410T>C (p.Val137Ala) c.422T>C (p.Val141Ala) c.380-4635T>C (n.380-4635T>C) c.179T>C (p.Val60Ala) c.*413T>C (n.*413T>C) c.617T>C (p.Val206Ala) c.386T>C (p.Val129Ala) c.629T>C (p.Val210Ala) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99137901T>G | CA374229443 | TGFBR1 | c.410T>G (p.Val137Gly) c.422T>G (p.Val141Gly) c.380-4635T>G (n.380-4635T>G) c.179T>G (p.Val60Gly) c.*413T>G (n.*413T>G) c.617T>G (p.Val206Gly) c.386T>G (p.Val129Gly) c.629T>G (p.Val210Gly) | dbSNP |
| 9 | g.99137901T= | CA1867255644 | TGFBR1 | c.410T= (p.Val137=) c.422T= (p.Val141=) c.380-4635T= (n.380-4635T=) c.179T= (p.Val60=) c.*413T= (n.*413T=) c.617T= (p.Val206=) c.386T= (p.Val129=) c.629T= (p.Val210=) | |
| 9 | g.99137902G>A | CA466434157 | TGFBR1 | c.411G>A (p.Val137=) c.423G>A (p.Val141=) c.380-4634G>A (n.380-4634G>A) c.180G>A (p.Val60=) c.*414G>A (n.*414G>A) c.618G>A (p.Val206=) c.387G>A (p.Val129=) c.630G>A (p.Val210=) | |
| 9 | g.99137902G>C | CA466434158 | TGFBR1 | c.411G>C (p.Val137=) c.423G>C (p.Val141=) c.380-4634G>C (n.380-4634G>C) c.180G>C (p.Val60=) c.*414G>C (n.*414G>C) c.618G>C (p.Val206=) c.387G>C (p.Val129=) c.630G>C (p.Val210=) | dbSNP |