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.99132586C>A | CA374227981 | TGFBR1 | c.214C>A (p.Leu72Ile) c.226C>A (p.Leu76Ile) c.136+3486C>A (n.136+3486C>A) c.*217C>A (n.*217C>A) c.421C>A (p.Leu141Ile) c.343+3486C>A (n.343+3486C>A) c.433C>A (p.Leu145Ile) | |
| 9 | g.99132586C= | CA1867274400 | TGFBR1 | c.214C= (p.Leu72=) c.226C= (p.Leu76=) c.136+3486C= (n.136+3486C=) c.*217C= (n.*217C=) c.421C= (p.Leu141=) c.343+3486C= (n.343+3486C=) c.433C= (p.Leu145=) | |
| 9 | g.99132586C>G | CA374227982 | TGFBR1 | c.214C>G (p.Leu72Val) c.226C>G (p.Leu76Val) c.136+3486C>G (n.136+3486C>G) c.*217C>G (n.*217C>G) c.421C>G (p.Leu141Val) c.343+3486C>G (n.343+3486C>G) c.433C>G (p.Leu145Val) | |
| 9 | g.99132586C>T | CA196885557 | TGFBR1 | c.214C>T (p.Leu72Phe) c.226C>T (p.Leu76Phe) c.136+3486C>T (n.136+3486C>T) c.*217C>T (n.*217C>T) c.421C>T (p.Leu141Phe) c.343+3486C>T (n.343+3486C>T) c.433C>T (p.Leu145Phe) | dbSNP gnomAD v4 |
| 9 | g.99132587T>A | CA374227984 | TGFBR1 | c.215T>A (p.Leu72His) c.227T>A (p.Leu76His) c.136+3487T>A (n.136+3487T>A) c.*218T>A (n.*218T>A) c.422T>A (p.Leu141His) c.343+3487T>A (n.343+3487T>A) c.434T>A (p.Leu145His) | |
| 9 | g.99132587T>C | CA374227987 | TGFBR1 | c.215T>C (p.Leu72Pro) c.227T>C (p.Leu76Pro) c.136+3487T>C (n.136+3487T>C) c.*218T>C (n.*218T>C) c.422T>C (p.Leu141Pro) c.343+3487T>C (n.343+3487T>C) c.434T>C (p.Leu145Pro) | |
| 9 | g.99132587T>G | CA374227986 | TGFBR1 | c.215T>G (p.Leu72Arg) c.227T>G (p.Leu76Arg) c.136+3487T>G (n.136+3487T>G) c.*218T>G (n.*218T>G) c.422T>G (p.Leu141Arg) c.343+3487T>G (n.343+3487T>G) c.434T>G (p.Leu145Arg) | |
| 9 | g.99132588C>A | CA466648106 | TGFBR1 | c.216C>A (p.Leu72=) c.228C>A (p.Leu76=) c.136+3488C>A (n.136+3488C>A) c.*219C>A (n.*219C>A) c.423C>A (p.Leu141=) c.343+3488C>A (n.343+3488C>A) c.435C>A (p.Leu145=) | |
| 9 | g.99132588C= | CA1867274408 | TGFBR1 | c.216C= (p.Leu72=) c.228C= (p.Leu76=) c.136+3488C= (n.136+3488C=) c.*219C= (n.*219C=) c.423C= (p.Leu141=) c.343+3488C= (n.343+3488C=) c.435C= (p.Leu145=) | |
| 9 | g.99132588C>G | CA466648104 | TGFBR1 | c.216C>G (p.Leu72=) c.228C>G (p.Leu76=) c.136+3488C>G (n.136+3488C>G) c.*219C>G (n.*219C>G) c.423C>G (p.Leu141=) c.343+3488C>G (n.343+3488C>G) c.435C>G (p.Leu145=) | ClinVar dbSNP |
| 9 | g.99132588C>T | CA466648105 | TGFBR1 | c.216C>T (p.Leu72=) c.228C>T (p.Leu76=) c.136+3488C>T (n.136+3488C>T) c.*219C>T (n.*219C>T) c.423C>T (p.Leu141=) c.343+3488C>T (n.343+3488C>T) c.435C>T (p.Leu145=) | gnomAD v4 |
| 9 | g.99132589A= | CA1867274415 | TGFBR1 | c.217A= (p.Met73=) c.229A= (p.Met77=) c.136+3489A= (n.136+3489A=) c.*220A= (n.*220A=) c.424A= (p.Met142=) c.343+3489A= (n.343+3489A=) c.436A= (p.Met146=) | |
| 9 | g.99132589A>C | CA374227989 | TGFBR1 | c.217A>C (p.Met73Leu) c.229A>C (p.Met77Leu) c.136+3489A>C (n.136+3489A>C) c.*220A>C (n.*220A>C) c.424A>C (p.Met142Leu) c.343+3489A>C (n.343+3489A>C) c.436A>C (p.Met146Leu) | |
| 9 | g.99132589A>G | CA374227991 | TGFBR1 | c.217A>G (p.Met73Val) c.229A>G (p.Met77Val) c.136+3489A>G (n.136+3489A>G) c.*220A>G (n.*220A>G) c.424A>G (p.Met142Val) c.343+3489A>G (n.343+3489A>G) c.436A>G (p.Met146Val) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99132589A>T | CA196885561 | TGFBR1 | c.217A>T (p.Met73Leu) c.229A>T (p.Met77Leu) c.136+3489A>T (n.136+3489A>T) c.*220A>T (n.*220A>T) c.424A>T (p.Met142Leu) c.343+3489A>T (n.343+3489A>T) c.436A>T (p.Met146Leu) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99132590T>A | CA374227993 | TGFBR1 | c.218T>A (p.Met73Lys) c.230T>A (p.Met77Lys) c.136+3490T>A (n.136+3490T>A) c.*221T>A (n.*221T>A) c.425T>A (p.Met142Lys) c.343+3490T>A (n.343+3490T>A) c.437T>A (p.Met146Lys) | |
| 9 | g.99132590T>C | CA374227994 | TGFBR1 | c.218T>C (p.Met73Thr) c.230T>C (p.Met77Thr) c.136+3490T>C (n.136+3490T>C) c.*221T>C (n.*221T>C) c.425T>C (p.Met142Thr) c.343+3490T>C (n.343+3490T>C) c.437T>C (p.Met146Thr) | |
| 9 | g.99132590T>G | CA374227996 | TGFBR1 | c.218T>G (p.Met73Arg) c.230T>G (p.Met77Arg) c.136+3490T>G (n.136+3490T>G) c.*221T>G (n.*221T>G) c.425T>G (p.Met142Arg) c.343+3490T>G (n.343+3490T>G) c.437T>G (p.Met146Arg) | gnomAD v4 |
| 9 | g.99132591G>A | CA374227998 | TGFBR1 | c.219G>A (p.Met73Ile) c.231G>A (p.Met77Ile) c.136+3491G>A (n.136+3491G>A) c.*222G>A (n.*222G>A) c.426G>A (p.Met142Ile) c.343+3491G>A (n.343+3491G>A) c.438G>A (p.Met146Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99132591G>C | CA374228000 | TGFBR1 | c.219G>C (p.Met73Ile) c.231G>C (p.Met77Ile) c.136+3491G>C (n.136+3491G>C) c.*222G>C (n.*222G>C) c.426G>C (p.Met142Ile) c.343+3491G>C (n.343+3491G>C) c.438G>C (p.Met146Ile) | |
| 9 | g.99132591G= | CA1867274423 | TGFBR1 | c.219G= (p.Met73=) c.231G= (p.Met77=) c.136+3491G= (n.136+3491G=) c.*222G= (n.*222G=) c.426G= (p.Met142=) c.343+3491G= (n.343+3491G=) c.438G= (p.Met146=) | |
| 9 | g.99132591G>T | CA374228001 | TGFBR1 | c.219G>T (p.Met73Ile) c.231G>T (p.Met77Ile) c.136+3491G>T (n.136+3491G>T) c.*222G>T (n.*222G>T) c.426G>T (p.Met142Ile) c.343+3491G>T (n.343+3491G>T) c.438G>T (p.Met146Ile) | |
| 9 | g.99132592T>A | CA374228003 | TGFBR1 | c.220T>A (p.Leu74Met) c.232T>A (p.Leu78Met) c.136+3492T>A (n.136+3492T>A) c.*223T>A (n.*223T>A) c.427T>A (p.Leu143Met) c.343+3492T>A (n.343+3492T>A) c.439T>A (p.Leu147Met) | |
| 9 | g.99132592T>C | CA466648109 | TGFBR1 | c.220T>C (p.Leu74=) c.232T>C (p.Leu78=) c.136+3492T>C (n.136+3492T>C) c.*223T>C (n.*223T>C) c.427T>C (p.Leu143=) c.343+3492T>C (n.343+3492T>C) c.439T>C (p.Leu147=) | gnomAD v4 |
| 9 | g.99132592T>G | CA063538 | TGFBR1 | c.220T>G (p.Leu74Val) c.232T>G (p.Leu78Val) c.136+3492T>G (n.136+3492T>G) c.*223T>G (n.*223T>G) c.427T>G (p.Leu143Val) c.343+3492T>G (n.343+3492T>G) c.439T>G (p.Leu147Val) | |
| 9 | g.99132593T>A | CA322389 | TGFBR1 | c.221T>A (p.Leu74Ter) c.233T>A (p.Leu78Ter) c.136+3493T>A (n.136+3493T>A) c.*224T>A (n.*224T>A) c.428T>A (p.Leu143Ter) c.343+3493T>A (n.343+3493T>A) c.440T>A (p.Leu147Ter) | ClinVar dbSNP |
| 9 | g.99132593T>C | CA374228005 | TGFBR1 | c.221T>C (p.Leu74Ser) c.233T>C (p.Leu78Ser) c.136+3493T>C (n.136+3493T>C) c.*224T>C (n.*224T>C) c.428T>C (p.Leu143Ser) c.343+3493T>C (n.343+3493T>C) c.440T>C (p.Leu147Ser) | |
| 9 | g.99132593T>G | CA374228006 | TGFBR1 | c.221T>G (p.Leu74Trp) c.233T>G (p.Leu78Trp) c.136+3493T>G (n.136+3493T>G) c.*224T>G (n.*224T>G) c.428T>G (p.Leu143Trp) c.343+3493T>G (n.343+3493T>G) c.440T>G (p.Leu147Trp) | |
| 9 | g.99132593T= | CA1867274429 | TGFBR1 | c.221T= (p.Leu74=) c.233T= (p.Leu78=) c.136+3493T= (n.136+3493T=) c.*224T= (n.*224T=) c.428T= (p.Leu143=) c.343+3493T= (n.343+3493T=) c.440T= (p.Leu147=) | |
| 9 | g.99132594G>A | CA466648113 | TGFBR1 | c.222G>A (p.Leu74=) c.234G>A (p.Leu78=) c.136+3494G>A (n.136+3494G>A) c.*225G>A (n.*225G>A) c.429G>A (p.Leu143=) c.343+3494G>A (n.343+3494G>A) c.441G>A (p.Leu147=) | dbSNP gnomAD v4 |
| 9 | g.99132594G>C | CA374228009 | TGFBR1 | c.222G>C (p.Leu74Phe) c.234G>C (p.Leu78Phe) c.136+3494G>C (n.136+3494G>C) c.*225G>C (n.*225G>C) c.429G>C (p.Leu143Phe) c.343+3494G>C (n.343+3494G>C) c.441G>C (p.Leu147Phe) | gnomAD v4 |
| 9 | g.99132594G= | CA1867274431 | TGFBR1 | c.222G= (p.Leu74=) c.234G= (p.Leu78=) c.136+3494G= (n.136+3494G=) c.*225G= (n.*225G=) c.429G= (p.Leu143=) c.343+3494G= (n.343+3494G=) c.441G= (p.Leu147=) | |
| 9 | g.99132594G>T | CA374228010 | TGFBR1 | c.222G>T (p.Leu74Phe) c.234G>T (p.Leu78Phe) c.136+3494G>T (n.136+3494G>T) c.*225G>T (n.*225G>T) c.429G>T (p.Leu143Phe) c.343+3494G>T (n.343+3494G>T) c.441G>T (p.Leu147Phe) | |
| 9 | g.99132595A= | CA1867274437 | TGFBR1 | c.223A= (p.Met75=) c.235A= (p.Met79=) c.136+3495A= (n.136+3495A=) c.*226A= (n.*226A=) c.430A= (p.Met144=) c.343+3495A= (n.343+3495A=) c.442A= (p.Met148=) | |
| 9 | g.99132595A>C | CA374228011 | TGFBR1 | c.223A>C (p.Met75Leu) c.235A>C (p.Met79Leu) c.136+3495A>C (n.136+3495A>C) c.*226A>C (n.*226A>C) c.430A>C (p.Met144Leu) c.343+3495A>C (n.343+3495A>C) c.442A>C (p.Met148Leu) | |
| 9 | g.99132595A>G | CA374228013 | TGFBR1 | c.223A>G (p.Met75Val) c.235A>G (p.Met79Val) c.136+3495A>G (n.136+3495A>G) c.*226A>G (n.*226A>G) c.430A>G (p.Met144Val) c.343+3495A>G (n.343+3495A>G) c.442A>G (p.Met148Val) | ClinVar dbSNP |
| 9 | g.99132595A>T | CA374228015 | TGFBR1 | c.223A>T (p.Met75Leu) c.235A>T (p.Met79Leu) c.136+3495A>T (n.136+3495A>T) c.*226A>T (n.*226A>T) c.430A>T (p.Met144Leu) c.343+3495A>T (n.343+3495A>T) c.442A>T (p.Met148Leu) | gnomAD v4 |
| 9 | g.99132596T>A | CA374228016 | TGFBR1 | c.224T>A (p.Met75Lys) c.236T>A (p.Met79Lys) c.136+3496T>A (n.136+3496T>A) c.*227T>A (n.*227T>A) c.431T>A (p.Met144Lys) c.343+3496T>A (n.343+3496T>A) c.443T>A (p.Met148Lys) | |
| 9 | g.99132596T>C | CA374228018 | TGFBR1 | c.224T>C (p.Met75Thr) c.236T>C (p.Met79Thr) c.136+3496T>C (n.136+3496T>C) c.*227T>C (n.*227T>C) c.431T>C (p.Met144Thr) c.343+3496T>C (n.343+3496T>C) c.443T>C (p.Met148Thr) | |
| 9 | g.99132596T>G | CA374228019 | TGFBR1 | c.224T>G (p.Met75Arg) c.236T>G (p.Met79Arg) c.136+3496T>G (n.136+3496T>G) c.*227T>G (n.*227T>G) c.431T>G (p.Met144Arg) c.343+3496T>G (n.343+3496T>G) c.443T>G (p.Met148Arg) | |
| 9 | g.99132597G>A | CA374228022 | TGFBR1 | c.225G>A (p.Met75Ile) c.237G>A (p.Met79Ile) c.136+3497G>A (n.136+3497G>A) c.*228G>A (n.*228G>A) c.432G>A (p.Met144Ile) c.343+3497G>A (n.343+3497G>A) c.444G>A (p.Met148Ile) | |
| 9 | g.99132597G>C | CA374228023 | TGFBR1 | c.225G>C (p.Met75Ile) c.237G>C (p.Met79Ile) c.136+3497G>C (n.136+3497G>C) c.*228G>C (n.*228G>C) c.432G>C (p.Met144Ile) c.343+3497G>C (n.343+3497G>C) c.444G>C (p.Met148Ile) | |
| 9 | g.99132597G>T | CA374228025 | TGFBR1 | c.225G>T (p.Met75Ile) c.237G>T (p.Met79Ile) c.136+3497G>T (n.136+3497G>T) c.*228G>T (n.*228G>T) c.432G>T (p.Met144Ile) c.343+3497G>T (n.343+3497G>T) c.444G>T (p.Met148Ile) | |
| 9 | g.99132598G>A | CA374228028 | TGFBR1 | c.226G>A (p.Val76Ile) c.238G>A (p.Val80Ile) c.136+3498G>A (n.136+3498G>A) c.*229G>A (n.*229G>A) c.433G>A (p.Val145Ile) c.343+3498G>A (n.343+3498G>A) c.445G>A (p.Val149Ile) | |
| 9 | g.99132598G>C | CA374228030 | TGFBR1 | c.226G>C (p.Val76Leu) c.238G>C (p.Val80Leu) c.136+3498G>C (n.136+3498G>C) c.*229G>C (n.*229G>C) c.433G>C (p.Val145Leu) c.343+3498G>C (n.343+3498G>C) c.445G>C (p.Val149Leu) | |
| 9 | g.99132598G>T | CA374228027 | TGFBR1 | c.226G>T (p.Val76Phe) c.238G>T (p.Val80Phe) c.136+3498G>T (n.136+3498G>T) c.*229G>T (n.*229G>T) c.433G>T (p.Val145Phe) c.343+3498G>T (n.343+3498G>T) c.445G>T (p.Val149Phe) | gnomAD v4 |
| 9 | g.99132599T>A | CA374228031 | TGFBR1 | c.227T>A (p.Val76Asp) c.239T>A (p.Val80Asp) c.136+3499T>A (n.136+3499T>A) c.*230T>A (n.*230T>A) c.434T>A (p.Val145Asp) c.343+3499T>A (n.343+3499T>A) c.446T>A (p.Val149Asp) | |
| 9 | g.99132599T>C | CA374228033 | TGFBR1 | c.227T>C (p.Val76Ala) c.239T>C (p.Val80Ala) c.136+3499T>C (n.136+3499T>C) c.*230T>C (n.*230T>C) c.434T>C (p.Val145Ala) c.343+3499T>C (n.343+3499T>C) c.446T>C (p.Val149Ala) | |
| 9 | g.99132599T>G | CA042043 | TGFBR1 | c.227T>G (p.Val76Gly) c.239T>G (p.Val80Gly) c.136+3499T>G (n.136+3499T>G) c.*230T>G (n.*230T>G) c.434T>G (p.Val145Gly) c.343+3499T>G (n.343+3499T>G) c.446T>G (p.Val149Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99132599T= | CA1867274449 | TGFBR1 | c.227T= (p.Val76=) c.239T= (p.Val80=) c.136+3499T= (n.136+3499T=) c.*230T= (n.*230T=) c.434T= (p.Val145=) c.343+3499T= (n.343+3499T=) c.446T= (p.Val149=) |