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 |
|---|---|---|---|---|---|
| 6 | g.24204860_24205385delinsGTTTTTAAGGTTGATCAGCCACATAGTACCTTAGAGGGTTTAATTCATACAGGTATAGGAACAATTTGTAGGAGATAACACAAAACTTGGAAAAAAAACACTATAATTGTCTTACACATATTTTTTAAGGCATGGAGATTACCTGATCGACTGGAACCTCAACCTGAGTATCTTCATCTTCTTGGACTTCTGCTGCCCCCCGTGTTTCAGACCTCTCTGCTCCAGCTTTGAAAATGCCTTCATCTATTGAGACAAACACACAGTGAAAATCAAAATCCAATTGTGACATCGTGTGGCTGAATGCTGGAATTACAATCAAATGCTTATTTTTAATAGACATTTGGATTCCCTTTTTAGTTGATAGTATTTTTGTGCACCCCCTCCTCCGACCACCACACCACCCCCAGTTGTTCCACATTTTCATTGAGAAAACATTCAGTGGTCAAAACAAGGCTGACCCAGCAGGGTAAAGTTCTGTCGAAGCTCCTGTTCACCCTTTGGCTACTGATTTACTAACATAGCCCTT | CA1616385196 | DCDC2 | c.923-283_1023+142delinsAAGGGCTATGTTAGTAAATCAGTAGCCAAAGGGTGAACAGGAGCTTCGACAGAACTTTACCCTGCTGGGTCAGCCTTGTTTTGACCACTGAATGTTTTCTCAATGAAAATGTGGAACAACTGGGGGTGGTGTGGTGGTCGGAGGAGGGGGTGCACAAAAATACTATCAACTAAAAAGGGAATCCAAATGTCTATTAAAAATAAGCATTTGATTGTAATTCCAGCATTCAGCCACACGATGTCACAATTGGATTTTGATTTTCACTGTGTGTTTGTCTCAATAGATGAAGGCATTTTCAAAGCTGGAGCAGAGAGGTCTGAAACACGGGGGGCAGCAGAAGTCCAAGAAGATGAAGATACTCAGGTTGAGGTTCCAGTCGATCAGGTAATCTCCATGCCTTAAAAAATATGTGTAAGACAATTATAGTGTTTTTTTTCCAAGTTTTGTGTTATCTCCTACAAATTGTTCCTATACCTGTATGAATTAAACCCTCTAAGGTACTATGTGGCTGATCAACCTTAAAAAC | |
| 6 | g.24204862_24205386del | CA1139659452 | DCDC2 | c.923-283_1023+141del | ClinVar dbSNP |
| 6 | g.24205019C>A | CA363277418 | DCDC2 | c.1006G>T (p.Glu336Ter) c.265G>T (p.Glu89Ter) | |
| 6 | g.24205019C>G | CA363277419 | DCDC2 | c.1006G>C (p.Glu336Gln) c.265G>C (p.Glu89Gln) | |
| 6 | g.24205019C>T | CA363277417 | DCDC2 | c.1006G>A (p.Glu336Lys) c.265G>A (p.Glu89Lys) | |
| 6 | g.24205020A>C | CA448963301 | DCDC2 | c.1005T>G (p.Val335=) c.264T>G (p.Val88=) | |
| 6 | g.24205020A>G | CA448963303 | DCDC2 | c.1005T>C (p.Val335=) c.264T>C (p.Val88=) | |
| 6 | g.24205020A>T | CA448963304 | DCDC2 | c.1005T>A (p.Val335=) c.264T>A (p.Val88=) | |
| 6 | g.24205021A>C | CA363277420 | DCDC2 | c.1004T>G (p.Val335Gly) c.263T>G (p.Val88Gly) | |
| 6 | g.24205021A>G | CA363277421 | DCDC2 | c.1004T>C (p.Val335Ala) c.263T>C (p.Val88Ala) | |
| 6 | g.24205021A>T | CA363277422 | DCDC2 | c.1004T>A (p.Val335Asp) c.263T>A (p.Val88Asp) | |
| 6 | g.24205022C>A | CA363277423 | DCDC2 | c.1003G>T (p.Val335Phe) c.262G>T (p.Val88Phe) | gnomAD v4 |
| 6 | g.24205022C= | CA1616385259 | DCDC2 | c.1003G= (p.Val335=) c.262G= (p.Val88=) | |
| 6 | g.24205022C>G | CA363277424 | DCDC2 | c.1003G>C (p.Val335Leu) c.262G>C (p.Val88Leu) | gnomAD v4 |
| 6 | g.24205022C>T | CA363277425 | DCDC2 | c.1003G>A (p.Val335Ile) c.262G>A (p.Val88Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24205023C>A | CA363277427 | DCDC2 | c.1002G>T (p.Gln334His) c.261G>T (p.Gln87His) | |
| 6 | g.24205023C>G | CA363277426 | DCDC2 | c.1002G>C (p.Gln334His) c.261G>C (p.Gln87His) | |
| 6 | g.24205023C>T | CA448963305 | DCDC2 | c.1002G>A (p.Gln334=) c.261G>A (p.Gln87=) | |
| 6 | g.24205024T>A | CA363277428 | DCDC2 | c.1001A>T (p.Gln334Leu) c.260A>T (p.Gln87Leu) | |
| 6 | g.24205024T>C | CA363277429 | DCDC2 | c.1001A>G (p.Gln334Arg) c.260A>G (p.Gln87Arg) | gnomAD v4 |
| 6 | g.24205024T>G | CA363277430 | DCDC2 | c.1001A>C (p.Gln334Pro) c.260A>C (p.Gln87Pro) | gnomAD v4 |
| 6 | g.24205025G>A | CA363277431 | DCDC2 | c.1000C>T (p.Gln334Ter) c.259C>T (p.Gln87Ter) | |
| 6 | g.24205025G>C | CA363277432 | DCDC2 | c.1000C>G (p.Gln334Glu) c.259C>G (p.Gln87Glu) | |
| 6 | g.24205025G>T | CA363277433 | DCDC2 | c.1000C>A (p.Gln334Lys) c.259C>A (p.Gln87Lys) | |
| 6 | g.24205026A= | CA1616385260 | DCDC2 | c.999T= (p.Thr333=) c.258T= (p.Thr86=) | |
| 6 | g.24205026A>C | CA448963308 | DCDC2 | c.999T>G (p.Thr333=) c.258T>G (p.Thr86=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.24205026A>G | CA448963309 | DCDC2 | c.999T>C (p.Thr333=) c.258T>C (p.Thr86=) | |
| 6 | g.24205026A>T | CA448963307 | DCDC2 | c.999T>A (p.Thr333=) c.258T>A (p.Thr86=) | |
| 6 | g.24205027G>A | CA363277434 | DCDC2 | c.998C>T (p.Thr333Ile) c.257C>T (p.Thr86Ile) | |
| 6 | g.24205027G>C | CA363277436 | DCDC2 | c.998C>G (p.Thr333Ser) c.257C>G (p.Thr86Ser) | |
| 6 | g.24205027G= | CA1616385261 | DCDC2 | c.998C= (p.Thr333=) c.257C= (p.Thr86=) | |
| 6 | g.24205027G>T | CA363277435 | DCDC2 | c.998C>A (p.Thr333Asn) c.257C>A (p.Thr86Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.24205028T>A | CA363277437 | DCDC2 | c.997A>T (p.Thr333Ser) c.256A>T (p.Thr86Ser) | |
| 6 | g.24205028T>C | CA363277438 | DCDC2 | c.997A>G (p.Thr333Ala) c.256A>G (p.Thr86Ala) | dbSNP |
| 6 | g.24205028T>G | CA363277439 | DCDC2 | c.997A>C (p.Thr333Pro) c.256A>C (p.Thr86Pro) | |
| 6 | g.24205028T= | CA1616385262 | DCDC2 | c.997A= (p.Thr333=) c.256A= (p.Thr86=) | |
| 6 | g.24205029A= | CA1616385263 | DCDC2 | c.996T= (p.Asp332=) c.255T= (p.Asp85=) | |
| 6 | g.24205029A>C | CA363277440 | DCDC2 | c.996T>G (p.Asp332Glu) c.255T>G (p.Asp85Glu) | |
| 6 | g.24205029A>G | CA448963313 | DCDC2 | c.996T>C (p.Asp332=) c.255T>C (p.Asp85=) | dbSNP |
| 6 | g.24205029A>T | CA363277441 | DCDC2 | c.996T>A (p.Asp332Glu) c.255T>A (p.Asp85Glu) | |
| 6 | g.24205030T>A | CA363277442 | DCDC2 | c.995A>T (p.Asp332Val) c.254A>T (p.Asp85Val) | COSMIC COSMIC |
| 6 | g.24205030T>C | CA3654544 | DCDC2 | c.995A>G (p.Asp332Gly) c.254A>G (p.Asp85Gly) | dbSNP ExAC gnomAD v4 |
| 6 | g.24205030T>G | CA363277443 | DCDC2 | c.995A>C (p.Asp332Ala) c.254A>C (p.Asp85Ala) | |
| 6 | g.24205030T= | CA1616385264 | DCDC2 | c.995A= (p.Asp332=) c.254A= (p.Asp85=) | |
| 6 | g.24205031C>A | CA363277444 | DCDC2 | c.994G>T (p.Asp332Tyr) c.253G>T (p.Asp85Tyr) | COSMIC |
| 6 | g.24205031C>G | CA363277445 | DCDC2 | c.994G>C (p.Asp332His) c.253G>C (p.Asp85His) | |
| 6 | g.24205031C>T | CA363277446 | DCDC2 | c.994G>A (p.Asp332Asn) c.253G>A (p.Asp85Asn) | |
| 6 | g.24205032T>A | CA363277448 | DCDC2 | c.993A>T (p.Glu331Asp) c.252A>T (p.Glu84Asp) | |
| 6 | g.24205032T>C | CA448963317 | DCDC2 | c.993A>G (p.Glu331=) c.252A>G (p.Glu84=) | |
| 6 | g.24205032T>G | CA363277447 | DCDC2 | c.993A>C (p.Glu331Asp) c.252A>C (p.Glu84Asp) |