UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.98577946T>A | CA374349980 | GABBR2 | c.448A>T (p.Asn150Tyr) n.226A>T c.64A>T (p.Asn22Tyr) n.222A>T | |
| 9 | g.98577946T>C | CA197080737 | GABBR2 | c.448A>G (p.Asn150Asp) n.226A>G c.64A>G (p.Asn22Asp) n.222A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.98577946T>G | CA374349981 | GABBR2 | c.448A>C (p.Asn150His) n.226A>C c.64A>C (p.Asn22His) n.222A>C | |
| 9 | g.98577946T= | CA1867025092 | GABBR2 | c.448A= (p.Asn150=) n.226A= c.64A= (p.Asn22=) n.222A= | |
| 9 | g.98577947C>A | CA374349984 | GABBR2 | c.447G>T (p.Trp149Cys) n.225G>T c.63G>T (p.Trp21Cys) n.221G>T | |
| 9 | g.98577947C>G | CA374349983 | GABBR2 | c.447G>C (p.Trp149Cys) n.225G>C c.63G>C (p.Trp21Cys) n.221G>C | |
| 9 | g.98577947C>T | CA374349982 | GABBR2 | c.447G>A (p.Trp149Ter) n.225G>A c.63G>A (p.Trp21Ter) n.221G>A | |
| 9 | g.98577948C>A | CA374349987 | GABBR2 | c.446G>T (p.Trp149Leu) n.224G>T c.62G>T (p.Trp21Leu) n.220G>T | |
| 9 | g.98577948C>G | CA374349985 | GABBR2 | c.446G>C (p.Trp149Ser) n.224G>C c.62G>C (p.Trp21Ser) n.220G>C | |
| 9 | g.98577948C>T | CA374349986 | GABBR2 | c.446G>A (p.Trp149Ter) n.224G>A c.62G>A (p.Trp21Ter) n.220G>A | |
| 9 | g.98577949A>C | CA374349988 | GABBR2 | c.445T>G (p.Trp149Gly) n.223T>G c.61T>G (p.Trp21Gly) n.219T>G | |
| 9 | g.98577949A>G | CA374349989 | GABBR2 | c.445T>C (p.Trp149Arg) n.223T>C c.61T>C (p.Trp21Arg) n.219T>C | |
| 9 | g.98577949A>T | CA374349990 | GABBR2 | c.445T>A (p.Trp149Arg) n.223T>A c.61T>A (p.Trp21Arg) n.219T>A | |
| 9 | g.98577950G>A | CA466527212 | GABBR2 | c.444C>T (p.Gly148=) n.222C>T c.60C>T (p.Gly20=) n.218C>T | |
| 9 | g.98577950G>C | CA466527213 | GABBR2 | c.444C>G (p.Gly148=) n.222C>G c.60C>G (p.Gly20=) n.218C>G | |
| 9 | g.98577950G>T | CA466527214 | GABBR2 | c.444C>A (p.Gly148=) n.222C>A c.60C>A (p.Gly20=) n.218C>A | |
| 9 | g.98577951C>A | CA374349991 | GABBR2 | c.443G>T (p.Gly148Val) n.221G>T c.59G>T (p.Gly20Val) n.217G>T | |
| 9 | g.98577951C>G | CA374349992 | GABBR2 | c.443G>C (p.Gly148Ala) n.221G>C c.59G>C (p.Gly20Ala) n.217G>C | |
| 9 | g.98577951C>T | CA374349993 | GABBR2 | c.443G>A (p.Gly148Asp) n.221G>A c.59G>A (p.Gly20Asp) n.217G>A | |
| 9 | g.98577952C>A | CA374349994 | GABBR2 | c.442G>T (p.Gly148Cys) n.220G>T c.58G>T (p.Gly20Cys) n.216G>T | |
| 9 | g.98577952C>G | CA374349995 | GABBR2 | c.442G>C (p.Gly148Arg) n.220G>C c.58G>C (p.Gly20Arg) n.216G>C | |
| 9 | g.98577952C>T | CA374349996 | GABBR2 | c.442G>A (p.Gly148Ser) n.220G>A c.58G>A (p.Gly20Ser) n.216G>A | |
| 9 | g.98577953T>A | CA374349997 | GABBR2 | c.441A>T (p.Gln147His) n.219A>T c.57A>T (p.Gln19His) n.215A>T | |
| 9 | g.98577953T>C | CA466527215 | GABBR2 | c.441A>G (p.Gln147=) n.219A>G c.57A>G (p.Gln19=) n.215A>G | |
| 9 | g.98577953T>G | CA5152997 | GABBR2 | c.441A>C (p.Gln147His) n.219A>C c.57A>C (p.Gln19His) n.215A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.98577953T= | CA1867025093 | GABBR2 | c.441A= (p.Gln147=) n.219A= c.57A= (p.Gln19=) n.215A= | |
| 9 | g.98577954T>A | CA374350000 | GABBR2 | c.440A>T (p.Gln147Leu) n.218A>T c.56A>T (p.Gln19Leu) n.214A>T | |
| 9 | g.98577954T>C | CA374349998 | GABBR2 | c.440A>G (p.Gln147Arg) n.218A>G c.56A>G (p.Gln19Arg) n.214A>G | ClinVar dbSNP gnomAD v4 |
| 9 | g.98577954T>G | CA374349999 | GABBR2 | c.440A>C (p.Gln147Pro) n.218A>C c.56A>C (p.Gln19Pro) n.214A>C | |
| 9 | g.98577954T= | CA1867025094 | GABBR2 | c.440A= (p.Gln147=) n.218A= c.56A= (p.Gln19=) n.214A= | |
| 9 | g.98577955G>A | CA374350001 | GABBR2 | c.439C>T (p.Gln147Ter) n.217C>T c.55C>T (p.Gln19Ter) n.213C>T | |
| 9 | g.98577955G>C | CA374350002 | GABBR2 | c.439C>G (p.Gln147Glu) n.217C>G c.55C>G (p.Gln19Glu) n.213C>G | |
| 9 | g.98577955G>T | CA374350003 | GABBR2 | c.439C>A (p.Gln147Lys) n.217C>A c.55C>A (p.Gln19Lys) n.213C>A | |
| 9 | g.98577956G>A | CA5152998 | GABBR2 | c.438C>T (p.Leu146=) n.216C>T c.54C>T (p.Leu18=) n.212C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.98577956G>C | CA466527216 | GABBR2 | c.438C>G (p.Leu146=) n.216C>G c.54C>G (p.Leu18=) n.212C>G | |
| 9 | g.98577956G= | CA1867025095 | GABBR2 | c.438C= (p.Leu146=) n.216C= c.54C= (p.Leu18=) n.212C= | |
| 9 | g.98577956G>T | CA466527217 | GABBR2 | c.438C>A (p.Leu146=) n.216C>A c.54C>A (p.Leu18=) n.212C>A | |
| 9 | g.98577957A>C | CA374350004 | GABBR2 | c.437T>G (p.Leu146Arg) n.215T>G c.53T>G (p.Leu18Arg) n.211T>G | |
| 9 | g.98577957A>G | CA374350005 | GABBR2 | c.437T>C (p.Leu146Pro) n.215T>C c.53T>C (p.Leu18Pro) n.211T>C | |
| 9 | g.98577957A>T | CA374350006 | GABBR2 | c.437T>A (p.Leu146His) n.215T>A c.53T>A (p.Leu18His) n.211T>A | |
| 9 | g.98577958G>A | CA374350007 | GABBR2 | c.436C>T (p.Leu146Phe) n.214C>T c.52C>T (p.Leu18Phe) n.210C>T | |
| 9 | g.98577958G>C | CA374350008 | GABBR2 | c.436C>G (p.Leu146Val) n.214C>G c.52C>G (p.Leu18Val) n.210C>G | |
| 9 | g.98577958G>T | CA374350009 | GABBR2 | c.436C>A (p.Leu146Ile) n.214C>A c.52C>A (p.Leu18Ile) n.210C>A | |
| 9 | g.98577959G>A | CA466527218 | GABBR2 | c.435C>T (p.Ser145=) n.213C>T c.51C>T (p.Ser17=) n.209C>T | gnomAD v4 |
| 9 | g.98577959G>C | CA466527219 | GABBR2 | c.435C>G (p.Ser145=) n.213C>G c.51C>G (p.Ser17=) n.209C>G | gnomAD v4 |
| 9 | g.98577959G>T | CA466527220 | GABBR2 | c.435C>A (p.Ser145=) n.213C>A c.51C>A (p.Ser17=) n.209C>A | |
| 9 | g.98577960G>A | CA374350010 | GABBR2 | c.434C>T (p.Ser145Phe) n.212C>T c.50C>T (p.Ser17Phe) n.208C>T | |
| 9 | g.98577960G>C | CA374350011 | GABBR2 | c.434C>G (p.Ser145Cys) n.212C>G c.50C>G (p.Ser17Cys) n.208C>G | |
| 9 | g.98577960G>T | CA374350012 | GABBR2 | c.434C>A (p.Ser145Tyr) n.212C>A c.50C>A (p.Ser17Tyr) n.208C>A | |
| 9 | g.98577961A>C | CA374350014 | GABBR2 | c.433T>G (p.Ser145Ala) n.211T>G c.49T>G (p.Ser17Ala) n.207T>G |