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 |
|---|---|---|---|---|---|
| 11 | g.113412747_113412750delinsTGGA | CA2001167995 | DRD2 | c.944_947delinsTCCA (p.Leu315=) c.857_860delinsTCCA (p.Leu286=) c.950_953delinsTCCA (p.Leu317=) c.941_944delinsTCCA (p.Leu314=) | |
| 11 | g.113412749_113412751del | CA6281221 | DRD2 | c.944_946del (p.Leu315del) c.857_859del (p.Leu286del) c.950_952del (p.Leu317del) c.941_943del (p.Leu314del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113412749G>A | CA477043191 | DRD2 | c.945C>T (p.Leu315=) c.858C>T (p.Leu286=) c.951C>T (p.Leu317=) c.942C>T (p.Leu314=) | COSMIC COSMIC |
| 11 | g.113412749G>C | CA477043193 | DRD2 | c.945C>G (p.Leu315=) c.858C>G (p.Leu286=) c.951C>G (p.Leu317=) c.942C>G (p.Leu314=) | |
| 11 | g.113412749G>T | CA477043195 | DRD2 | c.945C>A (p.Leu315=) c.858C>A (p.Leu286=) c.951C>A (p.Leu317=) c.942C>A (p.Leu314=) | gnomAD v3 gnomAD v4 |
| 11 | g.113412750A>C | CA382650233 | DRD2 | c.944T>G (p.Leu315Arg) c.857T>G (p.Leu286Arg) c.950T>G (p.Leu317Arg) c.941T>G (p.Leu314Arg) | |
| 11 | g.113412750A>G | CA382650235 | DRD2 | c.944T>C (p.Leu315Pro) c.857T>C (p.Leu286Pro) c.950T>C (p.Leu317Pro) c.941T>C (p.Leu314Pro) | |
| 11 | g.113412750A>T | CA382650238 | DRD2 | c.944T>A (p.Leu315His) c.857T>A (p.Leu286His) c.950T>A (p.Leu317His) c.941T>A (p.Leu314His) | |
| 11 | g.113412751G>A | CA382650239 | DRD2 | c.943C>T (p.Leu315Phe) c.856C>T (p.Leu286Phe) c.949C>T (p.Leu317Phe) c.940C>T (p.Leu314Phe) | gnomAD v4 |
| 11 | g.113412751G>C | CA382650241 | DRD2 | c.943C>G (p.Leu315Val) c.856C>G (p.Leu286Val) c.949C>G (p.Leu317Val) c.940C>G (p.Leu314Val) | |
| 11 | g.113412751G= | CA2001167997 | DRD2 | c.943C= (p.Leu315=) c.856C= (p.Leu286=) c.949C= (p.Leu317=) c.940C= (p.Leu314=) | |
| 11 | g.113412751G>T | CA382650243 | DRD2 | c.943C>A (p.Leu315Ile) c.856C>A (p.Leu286Ile) c.949C>A (p.Leu317Ile) c.940C>A (p.Leu314Ile) | dbSNP gnomAD v2 |
| 11 | g.113412752A= | CA2001167998 | DRD2 | c.942T= (p.Gly314=) c.855T= (p.Gly285=) c.948T= (p.Gly316=) c.939T= (p.Gly313=) | |
| 11 | g.113412752A>C | CA228625664 | DRD2 | c.942T>G (p.Gly314=) c.855T>G (p.Gly285=) c.948T>G (p.Gly316=) c.939T>G (p.Gly313=) | dbSNP |
| 11 | g.113412752A>G | CA477043197 | DRD2 | c.942T>C (p.Gly314=) c.855T>C (p.Gly285=) c.948T>C (p.Gly316=) c.939T>C (p.Gly313=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113412752A>T | CA477043198 | DRD2 | c.942T>A (p.Gly314=) c.855T>A (p.Gly285=) c.948T>A (p.Gly316=) c.939T>A (p.Gly313=) | |
| 11 | g.113412753C>A | CA382650245 | DRD2 | c.941G>T (p.Gly314Val) c.854G>T (p.Gly285Val) c.947G>T (p.Gly316Val) c.938G>T (p.Gly313Val) | |
| 11 | g.113412753C= | CA2001167999 | DRD2 | c.941G= (p.Gly314=) c.854G= (p.Gly285=) c.947G= (p.Gly316=) c.938G= (p.Gly313=) | |
| 11 | g.113412753C>G | CA382650247 | DRD2 | c.941G>C (p.Gly314Ala) c.854G>C (p.Gly285Ala) c.947G>C (p.Gly316Ala) c.938G>C (p.Gly313Ala) | |
| 11 | g.113412753C>T | CA6281222 | DRD2 | c.941G>A (p.Gly314Asp) c.854G>A (p.Gly285Asp) c.947G>A (p.Gly316Asp) c.938G>A (p.Gly313Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113412754C>A | CA382650250 | DRD2 | c.940G>T (p.Gly314Cys) c.853G>T (p.Gly285Cys) c.946G>T (p.Gly316Cys) c.937G>T (p.Gly313Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113412754C= | CA2001168000 | DRD2 | c.940G= (p.Gly314=) c.853G= (p.Gly285=) c.946G= (p.Gly316=) c.937G= (p.Gly313=) | |
| 11 | g.113412754C>G | CA382650252 | DRD2 | c.940G>C (p.Gly314Arg) c.853G>C (p.Gly285Arg) c.946G>C (p.Gly316Arg) c.937G>C (p.Gly313Arg) | |
| 11 | g.113412754C>T | CA6281223 | DRD2 | c.940G>A (p.Gly314Ser) c.853G>A (p.Gly285Ser) c.946G>A (p.Gly316Ser) c.937G>A (p.Gly313Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.113412755A= | CA2001168001 | DRD2 | c.939T= (p.His313=) c.852T= (p.His284=) c.945T= (p.His315=) c.936T= (p.His312=) | |
| 11 | g.113412755A>C | CA382650257 | DRD2 | c.939T>G (p.His313Gln) c.852T>G (p.His284Gln) c.945T>G (p.His315Gln) c.936T>G (p.His312Gln) | |
| 11 | g.113412755A>G | CA6281224 | DRD2 | c.939T>C (p.His313=) c.852T>C (p.His284=) c.945T>C (p.His315=) c.936T>C (p.His312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113412755A>T | CA382650255 | DRD2 | c.939T>A (p.His313Gln) c.852T>A (p.His284Gln) c.945T>A (p.His315Gln) c.936T>A (p.His312Gln) | gnomAD v3 gnomAD v4 |
| 11 | g.113412756T>A | CA382650258 | DRD2 | c.938A>T (p.His313Leu) c.851A>T (p.His284Leu) c.944A>T (p.His315Leu) c.935A>T (p.His312Leu) | |
| 11 | g.113412756T>C | CA228625670 | DRD2 | c.938A>G (p.His313Arg) c.851A>G (p.His284Arg) c.944A>G (p.His315Arg) c.935A>G (p.His312Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113412756T>G | CA382650261 | DRD2 | c.938A>C (p.His313Pro) c.851A>C (p.His284Pro) c.944A>C (p.His315Pro) c.935A>C (p.His312Pro) | |
| 11 | g.113412756T= | CA2001168002 | DRD2 | c.938A= (p.His313=) c.851A= (p.His284=) c.944A= (p.His315=) c.935A= (p.His312=) | |
| 11 | g.113412757G>A | CA382650263 | DRD2 | c.937C>T (p.His313Tyr) c.850C>T (p.His284Tyr) c.943C>T (p.His315Tyr) c.934C>T (p.His312Tyr) | |
| 11 | g.113412757G>C | CA382650265 | DRD2 | c.937C>G (p.His313Asp) c.850C>G (p.His284Asp) c.943C>G (p.His315Asp) c.934C>G (p.His312Asp) | |
| 11 | g.113412757G>T | CA382650267 | DRD2 | c.937C>A (p.His313Asn) c.850C>A (p.His284Asn) c.943C>A (p.His315Asn) c.934C>A (p.His312Asn) | |
| 11 | g.113412758G>A | CA6281225 | DRD2 | c.936C>T (p.His312=) c.849C>T (p.His283=) c.942C>T (p.His314=) c.933C>T (p.His311=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113412758G>C | CA382650270 | DRD2 | c.936C>G (p.His312Gln) c.849C>G (p.His283Gln) c.942C>G (p.His314Gln) c.933C>G (p.His311Gln) | |
| 11 | g.113412758G= | CA2001168003 | DRD2 | c.936C= (p.His312=) c.849C= (p.His283=) c.942C= (p.His314=) c.933C= (p.His311=) | |
| 11 | g.113412758G>T | CA382650272 | DRD2 | c.936C>A (p.His312Gln) c.849C>A (p.His283Gln) c.942C>A (p.His314Gln) c.933C>A (p.His311Gln) | |
| 11 | g.113412759T>A | CA382650276 | DRD2 | c.935A>T (p.His312Leu) c.848A>T (p.His283Leu) c.941A>T (p.His314Leu) c.932A>T (p.His311Leu) | |
| 11 | g.113412759T>C | CA382650275 | DRD2 | c.935A>G (p.His312Arg) c.848A>G (p.His283Arg) c.941A>G (p.His314Arg) c.932A>G (p.His311Arg) | |
| 11 | g.113412759T>G | CA382650274 | DRD2 | c.935A>C (p.His312Pro) c.848A>C (p.His283Pro) c.941A>C (p.His314Pro) c.932A>C (p.His311Pro) | |
| 11 | g.113412760G>A | CA382650277 | DRD2 | c.934C>T (p.His312Tyr) c.847C>T (p.His283Tyr) c.940C>T (p.His314Tyr) c.931C>T (p.His311Tyr) | dbSNP gnomAD v4 |
| 11 | g.113412760G>C | CA382650279 | DRD2 | c.934C>G (p.His312Asp) c.847C>G (p.His283Asp) c.940C>G (p.His314Asp) c.931C>G (p.His311Asp) | |
| 11 | g.113412760G= | CA2001168004 | DRD2 | c.934C= (p.His312=) c.847C= (p.His283=) c.940C= (p.His314=) c.931C= (p.His311=) | |
| 11 | g.113412760G>T | CA382650281 | DRD2 | c.934C>A (p.His312Asn) c.847C>A (p.His283Asn) c.940C>A (p.His314Asn) c.931C>A (p.His311Asn) | |
| 11 | g.113412761G>A | CA477043209 | DRD2 | c.933C>T (p.Ser311=) c.846C>T (p.Ser282=) c.939C>T (p.Ser313=) c.930C>T (p.Ser310=) | gnomAD v4 |
| 11 | g.113412761G>C | CA477043210 | DRD2 | c.933C>G (p.Ser311=) c.846C>G (p.Ser282=) c.939C>G (p.Ser313=) c.930C>G (p.Ser310=) | |
| 11 | g.113412761G>T | CA477043211 | DRD2 | c.933C>A (p.Ser311=) c.846C>A (p.Ser282=) c.939C>A (p.Ser313=) c.930C>A (p.Ser310=) | |
| 11 | g.113412762G>A | CA382650282 | DRD2 | c.932C>T (p.Ser311Phe) c.845C>T (p.Ser282Phe) c.938C>T (p.Ser313Phe) c.929C>T (p.Ser310Phe) |