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 |
|---|---|---|---|---|---|
| 10 | g.124398061C>A | CA113990 | OAT | c.1201G>T (p.Gly401Ter) n.711G>T c.787G>T (p.Gly263Ter) c.880G>T (p.Gly294Ter) c.601G>T (p.Gly201Ter) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124398061C= | CA1942335684 | OAT | c.1201G= (p.Gly401=) n.711G= c.787G= (p.Gly263=) c.880G= (p.Gly294=) c.601G= (p.Gly201=) | |
| 10 | g.124398061C>G | CA378633195 | OAT | c.1201G>C (p.Gly401Arg) n.711G>C c.787G>C (p.Gly263Arg) c.880G>C (p.Gly294Arg) c.601G>C (p.Gly201Arg) | |
| 10 | g.124398061C>T | CA378633196 | OAT | c.1201G>A (p.Gly401Arg) n.711G>A c.787G>A (p.Gly263Arg) c.880G>A (p.Gly294Arg) c.601G>A (p.Gly201Arg) | |
| 10 | g.124398062A>C | CA378633197 | OAT | c.1200T>G (p.Asn400Lys) n.710T>G c.786T>G (p.Asn262Lys) c.879T>G (p.Asn293Lys) c.600T>G (p.Asn200Lys) | |
| 10 | g.124398062A>G | CA471762556 | OAT | c.1200T>C (p.Asn400=) n.710T>C c.786T>C (p.Asn262=) c.879T>C (p.Asn293=) c.600T>C (p.Asn200=) | gnomAD v4 |
| 10 | g.124398062A>T | CA378633198 | OAT | c.1200T>A (p.Asn400Lys) n.710T>A c.786T>A (p.Asn262Lys) c.879T>A (p.Asn293Lys) c.600T>A (p.Asn200Lys) | |
| 10 | g.124398063T>A | CA378633199 | OAT | c.1199A>T (p.Asn400Ile) n.709A>T c.785A>T (p.Asn262Ile) c.878A>T (p.Asn293Ile) c.599A>T (p.Asn200Ile) | |
| 10 | g.124398063T>C | CA378633200 | OAT | c.1199A>G (p.Asn400Ser) n.709A>G c.785A>G (p.Asn262Ser) c.878A>G (p.Asn293Ser) c.599A>G (p.Asn200Ser) | |
| 10 | g.124398063T>G | CA378633201 | OAT | c.1199A>C (p.Asn400Thr) n.709A>C c.785A>C (p.Asn262Thr) c.878A>C (p.Asn293Thr) c.599A>C (p.Asn200Thr) | |
| 10 | g.124398064del | CA2611307204 | OAT | c.1199del (p.Asn400MetfsTer20) n.709del c.785del (p.Asn262MetfsTer20) c.878del (p.Asn293MetfsTer20) c.599del (p.Asn200MetfsTer20) | gnomAD v4 |
| 10 | g.124398064T>A | CA378633202 | OAT | c.1198A>T (p.Asn400Tyr) n.708A>T c.784A>T (p.Asn262Tyr) c.877A>T (p.Asn293Tyr) c.598A>T (p.Asn200Tyr) | ClinVar dbSNP |
| 10 | g.124398064T>C | CA378633204 | OAT | c.1198A>G (p.Asn400Asp) n.708A>G c.784A>G (p.Asn262Asp) c.877A>G (p.Asn293Asp) c.598A>G (p.Asn200Asp) | |
| 10 | g.124398064T>G | CA378633203 | OAT | c.1198A>C (p.Asn400His) n.708A>C c.784A>C (p.Asn262His) c.877A>C (p.Asn293His) c.598A>C (p.Asn200His) | |
| 10 | g.124398065A>C | CA378633205 | OAT | c.1197T>G (p.Asp399Glu) n.707T>G c.783T>G (p.Asp261Glu) c.876T>G (p.Asp292Glu) c.597T>G (p.Asp199Glu) | |
| 10 | g.124398065A>G | CA471762558 | OAT | c.1197T>C (p.Asp399=) n.707T>C c.783T>C (p.Asp261=) c.876T>C (p.Asp292=) c.597T>C (p.Asp199=) | |
| 10 | g.124398065A>T | CA378633206 | OAT | c.1197T>A (p.Asp399Glu) n.707T>A c.783T>A (p.Asp261Glu) c.876T>A (p.Asp292Glu) c.597T>A (p.Asp199Glu) | |
| 10 | g.124398066T>A | CA378633207 | OAT | c.1196A>T (p.Asp399Val) n.706A>T c.782A>T (p.Asp261Val) c.875A>T (p.Asp292Val) c.596A>T (p.Asp199Val) | |
| 10 | g.124398066T>C | CA378633208 | OAT | c.1196A>G (p.Asp399Gly) n.706A>G c.782A>G (p.Asp261Gly) c.875A>G (p.Asp292Gly) c.596A>G (p.Asp199Gly) | gnomAD v4 |
| 10 | g.124398066T>G | CA378633209 | OAT | c.1196A>C (p.Asp399Ala) n.706A>C c.782A>C (p.Asp261Ala) c.875A>C (p.Asp292Ala) c.596A>C (p.Asp199Ala) | |
| 10 | g.124398067C>A | CA378633210 | OAT | c.1195G>T (p.Asp399Tyr) n.705G>T c.781G>T (p.Asp261Tyr) c.874G>T (p.Asp292Tyr) c.595G>T (p.Asp199Tyr) | |
| 10 | g.124398067C>G | CA378633211 | OAT | c.1195G>C (p.Asp399His) n.705G>C c.781G>C (p.Asp261His) c.874G>C (p.Asp292His) c.595G>C (p.Asp199His) | gnomAD v4 |
| 10 | g.124398067C>T | CA378633212 | OAT | c.1195G>A (p.Asp399Asn) n.705G>A c.781G>A (p.Asp261Asn) c.874G>A (p.Asp292Asn) c.595G>A (p.Asp199Asn) | |
| 10 | g.124398068T>A | CA471762559 | OAT | c.1194A>T (p.Arg398=) n.704A>T c.780A>T (p.Arg260=) c.873A>T (p.Arg291=) c.594A>T (p.Arg198=) | |
| 10 | g.124398068T>C | CA471762560 | OAT | c.1194A>G (p.Arg398=) n.704A>G c.780A>G (p.Arg260=) c.873A>G (p.Arg291=) c.594A>G (p.Arg198=) | |
| 10 | g.124398068T>G | CA471762561 | OAT | c.1194A>C (p.Arg398=) n.704A>C c.780A>C (p.Arg260=) c.873A>C (p.Arg291=) c.594A>C (p.Arg198=) | gnomAD v4 |
| 10 | g.124398069C>A | CA378633213 | OAT | c.1193G>T (p.Arg398Leu) n.703G>T c.779G>T (p.Arg260Leu) c.872G>T (p.Arg291Leu) c.593G>T (p.Arg198Leu) | |
| 10 | g.124398069C= | CA1942335685 | OAT | c.1193G= (p.Arg398=) n.703G= c.779G= (p.Arg260=) c.872G= (p.Arg291=) c.593G= (p.Arg198=) | |
| 10 | g.124398069C>G | CA378633214 | OAT | c.1193G>C (p.Arg398Pro) n.703G>C c.779G>C (p.Arg260Pro) c.872G>C (p.Arg291Pro) c.593G>C (p.Arg198Pro) | gnomAD v4 |
| 10 | g.124398069C>T | CA378633215 | OAT | c.1193G>A (p.Arg398Gln) n.703G>A c.779G>A (p.Arg260Gln) c.872G>A (p.Arg291Gln) c.593G>A (p.Arg198Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.124398070G>A | CA5733296 | OAT | c.1192C>T (p.Arg398Ter) n.702C>T c.778C>T (p.Arg260Ter) c.871C>T (p.Arg291Ter) c.592C>T (p.Arg198Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398070G>C | CA378633216 | OAT | c.1192C>G (p.Arg398Gly) n.702C>G c.778C>G (p.Arg260Gly) c.871C>G (p.Arg291Gly) c.592C>G (p.Arg198Gly) | dbSNP gnomAD v4 |
| 10 | g.124398070G= | CA1942335686 | OAT | c.1192C= (p.Arg398=) n.702C= c.778C= (p.Arg260=) c.871C= (p.Arg291=) c.592C= (p.Arg198=) | |
| 10 | g.124398070G>T | CA471762563 | OAT | c.1192C>A (p.Arg398=) n.702C>A c.778C>A (p.Arg260=) c.871C>A (p.Arg291=) c.592C>A (p.Arg198=) | |
| 10 | g.124398071A>C | CA471762564 | OAT | c.1191T>G (p.Leu397=) n.701T>G c.777T>G (p.Leu259=) c.870T>G (p.Leu290=) c.591T>G (p.Leu197=) | |
| 10 | g.124398071A>G | CA471762565 | OAT | c.1191T>C (p.Leu397=) n.701T>C c.777T>C (p.Leu259=) c.870T>C (p.Leu290=) c.591T>C (p.Leu197=) | |
| 10 | g.124398071A>T | CA471762566 | OAT | c.1191T>A (p.Leu397=) n.701T>A c.777T>A (p.Leu259=) c.870T>A (p.Leu290=) c.591T>A (p.Leu197=) | |
| 10 | g.124398072A>C | CA378633219 | OAT | c.1190T>G (p.Leu397Arg) n.700T>G c.776T>G (p.Leu259Arg) c.869T>G (p.Leu290Arg) c.590T>G (p.Leu197Arg) | dbSNP |
| 10 | g.124398072A>G | CA378633218 | OAT | c.1190T>C (p.Leu397Pro) n.700T>C c.776T>C (p.Leu259Pro) c.869T>C (p.Leu290Pro) c.590T>C (p.Leu197Pro) | |
| 10 | g.124398072A>T | CA378633217 | OAT | c.1190T>A (p.Leu397His) n.700T>A c.776T>A (p.Leu259His) c.869T>A (p.Leu290His) c.590T>A (p.Leu197His) | |
| 10 | g.124398073G>A | CA378633220 | OAT | c.1189C>T (p.Leu397Phe) n.699C>T c.775C>T (p.Leu259Phe) c.868C>T (p.Leu290Phe) c.589C>T (p.Leu197Phe) | |
| 10 | g.124398073G>C | CA378633221 | OAT | c.1189C>G (p.Leu397Val) n.699C>G c.775C>G (p.Leu259Val) c.868C>G (p.Leu290Val) c.589C>G (p.Leu197Val) | |
| 10 | g.124398073G>T | CA378633222 | OAT | c.1189C>A (p.Leu397Ile) n.699C>A c.775C>A (p.Leu259Ile) c.868C>A (p.Leu290Ile) c.589C>A (p.Leu197Ile) | |
| 10 | g.124398074T>A | CA471762567 | OAT | c.1188A>T (p.Arg396=) n.698A>T c.774A>T (p.Arg258=) c.867A>T (p.Arg289=) c.588A>T (p.Arg196=) | |
| 10 | g.124398074T>C | CA471762568 | OAT | c.1188A>G (p.Arg396=) n.698A>G c.774A>G (p.Arg258=) c.867A>G (p.Arg289=) c.588A>G (p.Arg196=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 10 | g.124398074T>G | CA471762569 | OAT | c.1188A>C (p.Arg396=) n.698A>C c.774A>C (p.Arg258=) c.867A>C (p.Arg289=) c.588A>C (p.Arg196=) | |
| 10 | g.124398075C>A | CA378633223 | OAT | c.1187G>T (p.Arg396Leu) n.697G>T c.773G>T (p.Arg258Leu) c.866G>T (p.Arg289Leu) c.587G>T (p.Arg196Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124398075C= | CA1942335687 | OAT | c.1187G= (p.Arg396=) n.697G= c.773G= (p.Arg258=) c.866G= (p.Arg289=) c.587G= (p.Arg196=) | |
| 10 | g.124398075C>G | CA378633224 | OAT | c.1187G>C (p.Arg396Pro) n.697G>C c.773G>C (p.Arg258Pro) c.866G>C (p.Arg289Pro) c.587G>C (p.Arg196Pro) | |
| 10 | g.124398075C>T | CA5733297 | OAT | c.1187G>A (p.Arg396Gln) n.697G>A c.773G>A (p.Arg258Gln) c.866G>A (p.Arg289Gln) c.587G>A (p.Arg196Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |