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.13125989C>A | CA376029649 | OPTN | c.1192C>A (p.Gln398Lys) c.1174C>A (p.Gln392Lys) c.1021C>A (p.Gln341Lys) | |
| 10 | g.13125989C= | CA1891470835 | OPTN | c.1192C= (p.Gln398=) c.1174C= (p.Gln392=) c.1021C= (p.Gln341=) | |
| 10 | g.13125989C>G | CA5410896 | OPTN | c.1192C>G (p.Gln398Glu) c.1174C>G (p.Gln392Glu) c.1021C>G (p.Gln341Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13125989C>T | CA254103 | OPTN | c.1192C>T (p.Gln398Ter) c.1174C>T (p.Gln392Ter) c.1021C>T (p.Gln341Ter) | ClinVar dbSNP |
| 10 | g.13125990A>C | CA376029650 | OPTN | c.1193A>C (p.Gln398Pro) c.1175A>C (p.Gln392Pro) c.1022A>C (p.Gln341Pro) | COSMIC |
| 10 | g.13125990A>G | CA376029651 | OPTN | c.1193A>G (p.Gln398Arg) c.1175A>G (p.Gln392Arg) c.1022A>G (p.Gln341Arg) | |
| 10 | g.13125990A>T | CA376029652 | OPTN | c.1193A>T (p.Gln398Leu) c.1175A>T (p.Gln392Leu) c.1022A>T (p.Gln341Leu) | |
| 10 | g.13125991A>C | CA376029653 | OPTN | c.1194A>C (p.Gln398His) c.1176A>C (p.Gln392His) c.1023A>C (p.Gln341His) | |
| 10 | g.13125991A>G | CA468240666 | OPTN | c.1194A>G (p.Gln398=) c.1176A>G (p.Gln392=) c.1023A>G (p.Gln341=) | gnomAD v4 |
| 10 | g.13125991A>T | CA376029654 | OPTN | c.1194A>T (p.Gln398His) c.1176A>T (p.Gln392His) c.1023A>T (p.Gln341His) | |
| 10 | g.13125992G>A | CA376029655 | OPTN | c.1195G>A (p.Glu399Lys) c.1177G>A (p.Glu393Lys) c.1024G>A (p.Glu342Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13125992G>C | CA376029656 | OPTN | c.1195G>C (p.Glu399Gln) c.1177G>C (p.Glu393Gln) c.1024G>C (p.Glu342Gln) | |
| 10 | g.13125992G= | CA1891470844 | OPTN | c.1195G= (p.Glu399=) c.1177G= (p.Glu393=) c.1024G= (p.Glu342=) | |
| 10 | g.13125992G>T | CA376029657 | OPTN | c.1195G>T (p.Glu399Ter) c.1177G>T (p.Glu393Ter) c.1024G>T (p.Glu342Ter) | ClinVar |
| 10 | g.13125993A>C | CA376029658 | OPTN | c.1196A>C (p.Glu399Ala) c.1178A>C (p.Glu393Ala) c.1025A>C (p.Glu342Ala) | |
| 10 | g.13125993A>G | CA376029659 | OPTN | c.1196A>G (p.Glu399Gly) c.1178A>G (p.Glu393Gly) c.1025A>G (p.Glu342Gly) | |
| 10 | g.13125993A>T | CA376029660 | OPTN | c.1196A>T (p.Glu399Val) c.1178A>T (p.Glu393Val) c.1025A>T (p.Glu342Val) | |
| 10 | g.13125994A= | CA1891470861 | OPTN | c.1197A= (p.Glu399=) c.1179A= (p.Glu393=) c.1026A= (p.Glu342=) | |
| 10 | g.13125994A>C | CA376029662 | OPTN | c.1197A>C (p.Glu399Asp) c.1179A>C (p.Glu393Asp) c.1026A>C (p.Glu342Asp) | |
| 10 | g.13125994A>G | CA5410897 | OPTN | c.1197A>G (p.Glu399=) c.1179A>G (p.Glu393=) c.1026A>G (p.Glu342=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13125994A>T | CA376029661 | OPTN | c.1197A>T (p.Glu399Asp) c.1179A>T (p.Glu393Asp) c.1026A>T (p.Glu342Asp) | |
| 10 | g.13125994_13125995delinsGT | CA2580081341 | OPTN | c.1197_1198delinsGT (p.His400Tyr) c.1179_1180delinsGT (p.His394Tyr) c.1026_1027delinsGT (p.His343Tyr) | ClinVar |
| 10 | g.13125995C>A | CA376029663 | OPTN | c.1198C>A (p.His400Asn) c.1180C>A (p.His394Asn) c.1027C>A (p.His343Asn) | |
| 10 | g.13125995C= | CA1891470866 | OPTN | c.1198C= (p.His400=) c.1180C= (p.His394=) c.1027C= (p.His343=) | |
| 10 | g.13125995C>G | CA376029664 | OPTN | c.1198C>G (p.His400Asp) c.1180C>G (p.His394Asp) c.1027C>G (p.His343Asp) | |
| 10 | g.13125995C>T | CA5410898 | OPTN | c.1198C>T (p.His400Tyr) c.1180C>T (p.His394Tyr) c.1027C>T (p.His343Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13125996A>C | CA376029665 | OPTN | c.1199A>C (p.His400Pro) c.1181A>C (p.His394Pro) c.1028A>C (p.His343Pro) | |
| 10 | g.13125996A>G | CA376029666 | OPTN | c.1199A>G (p.His400Arg) c.1181A>G (p.His394Arg) c.1028A>G (p.His343Arg) | gnomAD v4 |
| 10 | g.13125996A>T | CA376029667 | OPTN | c.1199A>T (p.His400Leu) c.1181A>T (p.His394Leu) c.1028A>T (p.His343Leu) | |
| 10 | g.13125997T>A | CA376029668 | OPTN | c.1200T>A (p.His400Gln) c.1182T>A (p.His394Gln) c.1029T>A (p.His343Gln) | |
| 10 | g.13125997T>C | CA468240667 | OPTN | c.1200T>C (p.His400=) c.1182T>C (p.His394=) c.1029T>C (p.His343=) | |
| 10 | g.13125997T>G | CA376029669 | OPTN | c.1200T>G (p.His400Gln) c.1182T>G (p.His394Gln) c.1029T>G (p.His343Gln) | |
| 10 | g.13125998A= | CA1891470871 | OPTN | c.1201A= (p.Asn401=) c.1183A= (p.Asn395=) c.1030A= (p.Asn344=) | |
| 10 | g.13125998A>C | CA376029670 | OPTN | c.1201A>C (p.Asn401His) c.1183A>C (p.Asn395His) c.1030A>C (p.Asn344His) | |
| 10 | g.13125998A>G | CA376029671 | OPTN | c.1201A>G (p.Asn401Asp) c.1183A>G (p.Asn395Asp) c.1030A>G (p.Asn344Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13125998A>T | CA376029672 | OPTN | c.1201A>T (p.Asn401Tyr) c.1183A>T (p.Asn395Tyr) c.1030A>T (p.Asn344Tyr) | |
| 10 | g.13125998_13126005delinsAATAATGC | CA1891470873 | OPTN | c.1201_1208delinsAATAATGC (p.Asn401=) c.1183_1190delinsAATAATGC (p.Asn395=) c.1030_1037delinsAATAATGC (p.Asn344=) | |
| 10 | g.13125999A>C | CA376029674 | OPTN | c.1202A>C (p.Asn401Thr) c.1184A>C (p.Asn395Thr) c.1031A>C (p.Asn344Thr) | |
| 10 | g.13125999A>G | CA376029675 | OPTN | c.1202A>G (p.Asn401Ser) c.1184A>G (p.Asn395Ser) c.1031A>G (p.Asn344Ser) | gnomAD v4 |
| 10 | g.13125999A>T | CA376029673 | OPTN | c.1202A>T (p.Asn401Ile) c.1184A>T (p.Asn395Ile) c.1031A>T (p.Asn344Ile) | |
| 10 | g.13126001_13126007del | CA5410899 | OPTN | c.1204_1210del (p.Asn402Ter) c.1186_1192del (p.Asn396Ter) c.1033_1039del (p.Asn345Ter) | ClinVar dbSNP ExAC gnomAD v2 |
| 10 | g.13126000T>A | CA376029676 | OPTN | c.1203T>A (p.Asn401Lys) c.1185T>A (p.Asn395Lys) c.1032T>A (p.Asn344Lys) | |
| 10 | g.13126000T>C | CA468240668 | OPTN | c.1203T>C (p.Asn401=) c.1185T>C (p.Asn395=) c.1032T>C (p.Asn344=) | |
| 10 | g.13126000T>G | CA376029677 | OPTN | c.1203T>G (p.Asn401Lys) c.1185T>G (p.Asn395Lys) c.1032T>G (p.Asn344Lys) | dbSNP |
| 10 | g.13126000T= | CA1891470878 | OPTN | c.1203T= (p.Asn401=) c.1185T= (p.Asn395=) c.1032T= (p.Asn344=) | |
| 10 | g.13126001A>C | CA376029678 | OPTN | c.1204A>C (p.Asn402His) c.1186A>C (p.Asn396His) c.1033A>C (p.Asn345His) | |
| 10 | g.13126001A>G | CA376029679 | OPTN | c.1204A>G (p.Asn402Asp) c.1186A>G (p.Asn396Asp) c.1033A>G (p.Asn345Asp) | |
| 10 | g.13126001A>T | CA376029680 | OPTN | c.1204A>T (p.Asn402Tyr) c.1186A>T (p.Asn396Tyr) c.1033A>T (p.Asn345Tyr) | |
| 10 | g.13126002A>C | CA376029683 | OPTN | c.1205A>C (p.Asn402Thr) c.1187A>C (p.Asn396Thr) c.1034A>C (p.Asn345Thr) | COSMIC |
| 10 | g.13126002A>G | CA376029681 | OPTN | c.1205A>G (p.Asn402Ser) c.1187A>G (p.Asn396Ser) c.1034A>G (p.Asn345Ser) |