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 |
|---|---|---|---|---|---|
| 15 | g.38349482C>A | CA391932900 | SPRED1 | c.643C>A (p.Gln215Lys) c.679C>A (p.Gln227Lys) c.421C>A (p.Gln141Lys) c.580C>A (p.Gln194Lys) | |
| 15 | g.38349482C= | CA2170811836 | SPRED1 | c.643C= (p.Gln215=) c.679C= (p.Gln227=) c.421C= (p.Gln141=) c.580C= (p.Gln194=) | |
| 15 | g.38349482C>G | CA7470145 | SPRED1 | c.643C>G (p.Gln215Glu) c.679C>G (p.Gln227Glu) c.421C>G (p.Gln141Glu) c.580C>G (p.Gln194Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38349482C>T | CA251953 | SPRED1 | c.643C>T (p.Gln215Ter) c.679C>T (p.Gln227Ter) c.421C>T (p.Gln141Ter) c.580C>T (p.Gln194Ter) | ClinVar dbSNP |
| 15 | g.38349483A>C | CA391932901 | SPRED1 | c.644A>C (p.Gln215Pro) c.680A>C (p.Gln227Pro) c.422A>C (p.Gln141Pro) c.581A>C (p.Gln194Pro) | gnomAD v4 |
| 15 | g.38349483A>G | CA391932902 | SPRED1 | c.644A>G (p.Gln215Arg) c.680A>G (p.Gln227Arg) c.422A>G (p.Gln141Arg) c.581A>G (p.Gln194Arg) | |
| 15 | g.38349483A>T | CA391932903 | SPRED1 | c.644A>T (p.Gln215Leu) c.680A>T (p.Gln227Leu) c.422A>T (p.Gln141Leu) c.581A>T (p.Gln194Leu) | |
| 15 | g.38349484A= | CA2170811837 | SPRED1 | c.645A= (p.Gln215=) c.681A= (p.Gln227=) c.423A= (p.Gln141=) c.582A= (p.Gln194=) | |
| 15 | g.38349484A>C | CA269293278 | SPRED1 | c.645A>C (p.Gln215His) c.681A>C (p.Gln227His) c.423A>C (p.Gln141His) c.582A>C (p.Gln194His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38349484A>G | CA489922853 | SPRED1 | c.645A>G (p.Gln215=) c.681A>G (p.Gln227=) c.423A>G (p.Gln141=) c.582A>G (p.Gln194=) | |
| 15 | g.38349484A>T | CA391932904 | SPRED1 | c.645A>T (p.Gln215His) c.681A>T (p.Gln227His) c.423A>T (p.Gln141His) c.582A>T (p.Gln194His) | |
| 15 | g.38349485A>C | CA391932905 | SPRED1 | c.646A>C (p.Ile216Leu) c.682A>C (p.Ile228Leu) c.424A>C (p.Ile142Leu) c.583A>C (p.Ile195Leu) | |
| 15 | g.38349485A>G | CA391932906 | SPRED1 | c.646A>G (p.Ile216Val) c.682A>G (p.Ile228Val) c.424A>G (p.Ile142Val) c.583A>G (p.Ile195Val) | |
| 15 | g.38349485A>T | CA391932907 | SPRED1 | c.646A>T (p.Ile216Leu) c.682A>T (p.Ile228Leu) c.424A>T (p.Ile142Leu) c.583A>T (p.Ile195Leu) | |
| 15 | g.38349486T>A | CA391932910 | SPRED1 | c.647T>A (p.Ile216Lys) c.683T>A (p.Ile228Lys) c.425T>A (p.Ile142Lys) c.584T>A (p.Ile195Lys) | |
| 15 | g.38349486T>C | CA391932908 | SPRED1 | c.647T>C (p.Ile216Thr) c.683T>C (p.Ile228Thr) c.425T>C (p.Ile142Thr) c.584T>C (p.Ile195Thr) | gnomAD v4 |
| 15 | g.38349486T>G | CA391932909 | SPRED1 | c.647T>G (p.Ile216Arg) c.683T>G (p.Ile228Arg) c.425T>G (p.Ile142Arg) c.584T>G (p.Ile195Arg) | |
| 15 | g.38349487A>C | CA489922855 | SPRED1 | c.648A>C (p.Ile216=) c.684A>C (p.Ile228=) c.426A>C (p.Ile142=) c.585A>C (p.Ile195=) | |
| 15 | g.38349487A>G | CA391932911 | SPRED1 | c.648A>G (p.Ile216Met) c.684A>G (p.Ile228Met) c.426A>G (p.Ile142Met) c.585A>G (p.Ile195Met) | |
| 15 | g.38349487A>T | CA489922854 | SPRED1 | c.648A>T (p.Ile216=) c.684A>T (p.Ile228=) c.426A>T (p.Ile142=) c.585A>T (p.Ile195=) | |
| 15 | g.38349488T>A | CA391932912 | SPRED1 | c.649T>A (p.Ser217Thr) c.685T>A (p.Ser229Thr) c.427T>A (p.Ser143Thr) c.586T>A (p.Ser196Thr) | |
| 15 | g.38349488T>C | CA391932913 | SPRED1 | c.649T>C (p.Ser217Pro) c.685T>C (p.Ser229Pro) c.427T>C (p.Ser143Pro) c.586T>C (p.Ser196Pro) | gnomAD v4 |
| 15 | g.38349488T>G | CA391932914 | SPRED1 | c.649T>G (p.Ser217Ala) c.685T>G (p.Ser229Ala) c.427T>G (p.Ser143Ala) c.586T>G (p.Ser196Ala) | ClinVar gnomAD v4 |
| 15 | g.38349489C>A | CA391932915 | SPRED1 | c.650C>A (p.Ser217Tyr) c.686C>A (p.Ser229Tyr) c.428C>A (p.Ser143Tyr) c.587C>A (p.Ser196Tyr) | |
| 15 | g.38349489C= | CA2170811838 | SPRED1 | c.650C= (p.Ser217=) c.686C= (p.Ser229=) c.428C= (p.Ser143=) c.587C= (p.Ser196=) | |
| 15 | g.38349489C>G | CA391932916 | SPRED1 | c.650C>G (p.Ser217Cys) c.686C>G (p.Ser229Cys) c.428C>G (p.Ser143Cys) c.587C>G (p.Ser196Cys) | |
| 15 | g.38349489C>T | CA391932917 | SPRED1 | c.650C>T (p.Ser217Phe) c.686C>T (p.Ser229Phe) c.428C>T (p.Ser143Phe) c.587C>T (p.Ser196Phe) | dbSNP |
| 15 | g.38349490C>A | CA489922856 | SPRED1 | c.651C>A (p.Ser217=) c.687C>A (p.Ser229=) c.429C>A (p.Ser143=) c.588C>A (p.Ser196=) | |
| 15 | g.38349490C>G | CA489922857 | SPRED1 | c.651C>G (p.Ser217=) c.687C>G (p.Ser229=) c.429C>G (p.Ser143=) c.588C>G (p.Ser196=) | |
| 15 | g.38349490C>T | CA489922858 | SPRED1 | c.651C>T (p.Ser217=) c.687C>T (p.Ser229=) c.429C>T (p.Ser143=) c.588C>T (p.Ser196=) | |
| 15 | g.38349491A= | CA2170811839 | SPRED1 | c.652A= (p.Lys218=) c.688A= (p.Lys230=) c.430A= (p.Lys144=) c.589A= (p.Lys197=) | |
| 15 | g.38349491A>C | CA391932918 | SPRED1 | c.652A>C (p.Lys218Gln) c.688A>C (p.Lys230Gln) c.430A>C (p.Lys144Gln) c.589A>C (p.Lys197Gln) | |
| 15 | g.38349491A>G | CA391932919 | SPRED1 | c.652A>G (p.Lys218Glu) c.688A>G (p.Lys230Glu) c.430A>G (p.Lys144Glu) c.589A>G (p.Lys197Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38349491A>T | CA391932920 | SPRED1 | c.652A>T (p.Lys218Ter) c.688A>T (p.Lys230Ter) c.430A>T (p.Lys144Ter) c.589A>T (p.Lys197Ter) | |
| 15 | g.38349492A>C | CA391932922 | SPRED1 | c.653A>C (p.Lys218Thr) c.689A>C (p.Lys230Thr) c.431A>C (p.Lys144Thr) c.590A>C (p.Lys197Thr) | |
| 15 | g.38349492A>G | CA391932923 | SPRED1 | c.653A>G (p.Lys218Arg) c.689A>G (p.Lys230Arg) c.431A>G (p.Lys144Arg) c.590A>G (p.Lys197Arg) | |
| 15 | g.38349492A>T | CA391932921 | SPRED1 | c.653A>T (p.Lys218Met) c.689A>T (p.Lys230Met) c.431A>T (p.Lys144Met) c.590A>T (p.Lys197Met) | |
| 15 | g.38349493G>A | CA489922859 | SPRED1 | c.654G>A (p.Lys218=) c.690G>A (p.Lys230=) c.432G>A (p.Lys144=) c.591G>A (p.Lys197=) | |
| 15 | g.38349493G>C | CA391932924 | SPRED1 | c.654G>C (p.Lys218Asn) c.690G>C (p.Lys230Asn) c.432G>C (p.Lys144Asn) c.591G>C (p.Lys197Asn) | |
| 15 | g.38349493G>T | CA391932925 | SPRED1 | c.654G>T (p.Lys218Asn) c.690G>T (p.Lys230Asn) c.432G>T (p.Lys144Asn) c.591G>T (p.Lys197Asn) | gnomAD v4 |
| 15 | g.38349494G>A | CA391932926 | SPRED1 | c.655G>A (p.Glu219Lys) c.691G>A (p.Glu231Lys) c.433G>A (p.Glu145Lys) c.592G>A (p.Glu198Lys) | |
| 15 | g.38349494G>C | CA391932927 | SPRED1 | c.655G>C (p.Glu219Gln) c.691G>C (p.Glu231Gln) c.433G>C (p.Glu145Gln) c.592G>C (p.Glu198Gln) | |
| 15 | g.38349494G>T | CA391932928 | SPRED1 | c.655G>T (p.Glu219Ter) c.691G>T (p.Glu231Ter) c.433G>T (p.Glu145Ter) c.592G>T (p.Glu198Ter) | |
| 15 | g.38349495A>C | CA391932931 | SPRED1 | c.656A>C (p.Glu219Ala) c.692A>C (p.Glu231Ala) c.434A>C (p.Glu145Ala) c.593A>C (p.Glu198Ala) | |
| 15 | g.38349495A>G | CA391932929 | SPRED1 | c.656A>G (p.Glu219Gly) c.692A>G (p.Glu231Gly) c.434A>G (p.Glu145Gly) c.593A>G (p.Glu198Gly) | |
| 15 | g.38349495A>T | CA391932930 | SPRED1 | c.656A>T (p.Glu219Val) c.692A>T (p.Glu231Val) c.434A>T (p.Glu145Val) c.593A>T (p.Glu198Val) | |
| 15 | g.38349496A>C | CA391932932 | SPRED1 | c.657A>C (p.Glu219Asp) c.693A>C (p.Glu231Asp) c.435A>C (p.Glu145Asp) c.594A>C (p.Glu198Asp) | COSMIC |
| 15 | g.38349496A>G | CA489922861 | SPRED1 | c.657A>G (p.Glu219=) c.693A>G (p.Glu231=) c.435A>G (p.Glu145=) c.594A>G (p.Glu198=) | |
| 15 | g.38349496A>T | CA391932933 | SPRED1 | c.657A>T (p.Glu219Asp) c.693A>T (p.Glu231Asp) c.435A>T (p.Glu145Asp) c.594A>T (p.Glu198Asp) | |
| 15 | g.38349497T>A | CA391932934 | SPRED1 | c.658T>A (p.Cys220Ser) c.694T>A (p.Cys232Ser) c.436T>A (p.Cys146Ser) c.595T>A (p.Cys199Ser) |