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.94478792C>A | CA382377455 | MRE11 | c.487G>T (p.Asp163Tyr) c.496G>T (p.Asp166Tyr) n.563G>T c.19G>T (p.Asp7Tyr) n.783G>T | |
| 11 | g.94478792C>G | CA382377457 | MRE11 | c.487G>C (p.Asp163His) c.496G>C (p.Asp166His) n.563G>C c.19G>C (p.Asp7His) n.783G>C | |
| 11 | g.94478792C>T | CA382377458 | MRE11 | c.487G>A (p.Asp163Asn) c.496G>A (p.Asp166Asn) n.563G>A c.19G>A (p.Asp7Asn) n.783G>A | |
| 11 | g.94478793T>A | CA476286870 | MRE11 | c.486A>T (p.Ile162=) c.495A>T (p.Ile165=) n.562A>T c.18A>T (p.Ile6=) n.782A>T | |
| 11 | g.94478793T>C | CA382377459 | MRE11 | c.486A>G (p.Ile162Met) c.495A>G (p.Ile165Met) n.562A>G c.18A>G (p.Ile6Met) n.782A>G | ClinVar |
| 11 | g.94478793T>G | CA476286871 | MRE11 | c.486A>C (p.Ile162=) c.495A>C (p.Ile165=) n.562A>C c.18A>C (p.Ile6=) n.782A>C | |
| 11 | g.94478794A= | CA1992436741 | MRE11 | c.485T= (p.Ile162=) c.494T= (p.Ile165=) n.561T= c.17T= (p.Ile6=) n.781T= | |
| 11 | g.94478794A>C | CA382377462 | MRE11 | c.485T>G (p.Ile162Arg) c.494T>G (p.Ile165Arg) n.561T>G c.17T>G (p.Ile6Arg) n.781T>G | |
| 11 | g.94478794A>G | CA197993 | MRE11 | c.485T>C (p.Ile162Thr) c.494T>C (p.Ile165Thr) n.561T>C c.17T>C (p.Ile6Thr) n.781T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.94478794A>T | CA382377465 | MRE11 | c.485T>A (p.Ile162Lys) c.494T>A (p.Ile165Lys) n.561T>A c.17T>A (p.Ile6Lys) n.781T>A | |
| 11 | g.94478795T>A | CA382377467 | MRE11 | c.484A>T (p.Ile162Leu) c.493A>T (p.Ile165Leu) n.560A>T c.16A>T (p.Ile6Leu) n.780A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.94478795T>C | CA382377471 | MRE11 | c.484A>G (p.Ile162Val) c.493A>G (p.Ile165Val) n.560A>G c.16A>G (p.Ile6Val) n.780A>G | |
| 11 | g.94478795T>G | CA382377469 | MRE11 | c.484A>C (p.Ile162Leu) c.493A>C (p.Ile165Leu) n.560A>C c.16A>C (p.Ile6Leu) n.780A>C | |
| 11 | g.94478795T= | CA1992436765 | MRE11 | c.484A= (p.Ile162=) c.493A= (p.Ile165=) n.560A= c.16A= (p.Ile6=) n.780A= | |
| 11 | g.94478796C>A | CA382377473 | MRE11 | c.483G>T (p.Lys161Asn) c.492G>T (p.Lys164Asn) n.559G>T c.15G>T (p.Lys5Asn) n.779G>T | gnomAD v4 |
| 11 | g.94478796C>G | CA382377475 | MRE11 | c.483G>C (p.Lys161Asn) c.492G>C (p.Lys164Asn) n.559G>C c.15G>C (p.Lys5Asn) n.779G>C | |
| 11 | g.94478796C>T | CA476286872 | MRE11 | c.483G>A (p.Lys161=) c.492G>A (p.Lys164=) n.559G>A c.15G>A (p.Lys5=) n.779G>A | |
| 11 | g.94478797T>A | CA382377478 | MRE11 | c.482A>T (p.Lys161Met) c.491A>T (p.Lys164Met) n.558A>T c.14A>T (p.Lys5Met) n.778A>T | |
| 11 | g.94478797T>C | CA294309 | MRE11 | c.482A>G (p.Lys161Arg) c.491A>G (p.Lys164Arg) n.558A>G c.14A>G (p.Lys5Arg) n.778A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.94478797T>G | CA382377480 | MRE11 | c.482A>C (p.Lys161Thr) c.491A>C (p.Lys164Thr) n.558A>C c.14A>C (p.Lys5Thr) n.778A>C | |
| 11 | g.94478797T= | CA1992436780 | MRE11 | c.482A= (p.Lys161=) c.491A= (p.Lys164=) n.558A= c.14A= (p.Lys5=) n.778A= | |
| 11 | g.94478798T>A | CA382377482 | MRE11 | c.481A>T (p.Lys161Ter) c.490A>T (p.Lys164Ter) n.557A>T c.13A>T (p.Lys5Ter) n.777A>T | |
| 11 | g.94478798T>C | CA382377486 | MRE11 | c.481A>G (p.Lys161Glu) c.490A>G (p.Lys164Glu) n.557A>G c.13A>G (p.Lys5Glu) n.777A>G | ClinVar |
| 11 | g.94478798T>G | CA382377484 | MRE11 | c.481A>C (p.Lys161Gln) c.490A>C (p.Lys164Gln) n.557A>C c.13A>C (p.Lys5Gln) n.777A>C | |
| 11 | g.94478799C>A | CA382377488 | MRE11 | c.480G>T (p.Glu160Asp) c.489G>T (p.Glu163Asp) n.556G>T c.12G>T (p.Glu4Asp) n.776G>T | ClinVar |
| 11 | g.94478799C>G | CA382377490 | MRE11 | c.480G>C (p.Glu160Asp) c.489G>C (p.Glu163Asp) n.556G>C c.12G>C (p.Glu4Asp) n.776G>C | |
| 11 | g.94478799C>T | CA476286873 | MRE11 | c.480G>A (p.Glu160=) c.489G>A (p.Glu163=) n.556G>A c.12G>A (p.Glu4=) n.776G>A | |
| 11 | g.94478800T>A | CA382377492 | MRE11 | c.479A>T (p.Glu160Val) c.488A>T (p.Glu163Val) n.555A>T c.11A>T (p.Glu4Val) n.775A>T | |
| 11 | g.94478800T>C | CA382377494 | MRE11 | c.479A>G (p.Glu160Gly) c.488A>G (p.Glu163Gly) n.555A>G c.11A>G (p.Glu4Gly) n.775A>G | |
| 11 | g.94478800T>G | CA382377496 | MRE11 | c.479A>C (p.Glu160Ala) c.488A>C (p.Glu163Ala) n.555A>C c.11A>C (p.Glu4Ala) n.775A>C | |
| 11 | g.94478801C>A | CA382377498 | MRE11 | c.478G>T (p.Glu160Ter) c.487G>T (p.Glu163Ter) n.554G>T c.10G>T (p.Glu4Ter) n.774G>T | dbSNP |
| 11 | g.94478801C>G | CA382377500 | MRE11 | c.478G>C (p.Glu160Gln) c.487G>C (p.Glu163Gln) n.554G>C c.10G>C (p.Glu4Gln) n.774G>C | |
| 11 | g.94478801C>T | CA382377502 | MRE11 | c.478G>A (p.Glu160Lys) c.487G>A (p.Glu163Lys) n.554G>A c.10G>A (p.Glu4Lys) n.774G>A | ClinVar |
| 11 | g.94478802C>A | CA476286874 | MRE11 | c.477G>T (p.Val159=) c.486G>T (p.Val162=) n.553G>T c.9G>T (p.Val3=) n.773G>T | |
| 11 | g.94478802C>G | CA476286875 | MRE11 | c.477G>C (p.Val159=) c.486G>C (p.Val162=) n.553G>C c.9G>C (p.Val3=) n.773G>C | |
| 11 | g.94478802C>T | CA476286876 | MRE11 | c.477G>A (p.Val159=) c.486G>A (p.Val162=) n.553G>A c.9G>A (p.Val3=) n.773G>A | |
| 11 | g.94478803A= | CA1992436807 | MRE11 | c.476T= (p.Val159=) c.485T= (p.Val162=) n.552T= c.8T= (p.Val3=) n.772T= | |
| 11 | g.94478803A>C | CA382377505 | MRE11 | c.476T>G (p.Val159Gly) c.485T>G (p.Val162Gly) n.552T>G c.8T>G (p.Val3Gly) n.772T>G | |
| 11 | g.94478803A>G | CA339288 | MRE11 | c.476T>C (p.Val159Ala) c.485T>C (p.Val162Ala) n.552T>C c.8T>C (p.Val3Ala) n.772T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.94478803A>T | CA382377508 | MRE11 | c.476T>A (p.Val159Glu) c.485T>A (p.Val162Glu) n.552T>A c.8T>A (p.Val3Glu) n.772T>A | |
| 11 | g.94478806_94478809del | CA2793218255 | MRE11 | c.473_476del (p.Ser158TrpfsTer4) c.482_485del (p.Ser161TrpfsTer4) n.549_552del c.5_8del (p.Ser2TrpfsTer4) n.769_772del | |
| 11 | g.94478804C>A | CA382377513 | MRE11 | c.475G>T (p.Val159Leu) c.484G>T (p.Val162Leu) n.551G>T c.7G>T (p.Val3Leu) n.771G>T | |
| 11 | g.94478804C= | CA1992436828 | MRE11 | c.475G= (p.Val159=) c.484G= (p.Val162=) n.551G= c.7G= (p.Val3=) n.771G= | |
| 11 | g.94478804C>G | CA382377511 | MRE11 | c.475G>C (p.Val159Leu) c.484G>C (p.Val162Leu) n.551G>C c.7G>C (p.Val3Leu) n.771G>C | |
| 11 | g.94478804C>T | CA349075 | MRE11 | c.475G>A (p.Val159Met) c.484G>A (p.Val162Met) n.551G>A c.7G>A (p.Val3Met) n.771G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.94478805A= | CA1992436839 | MRE11 | c.474T= (p.Ser158=) c.483T= (p.Ser161=) n.550T= c.6T= (p.Ser2=) n.770T= | |
| 11 | g.94478805A>C | CA476286877 | MRE11 | c.474T>G (p.Ser158=) c.483T>G (p.Ser161=) n.550T>G c.6T>G (p.Ser2=) n.770T>G | |
| 11 | g.94478805A>G | CA476286878 | MRE11 | c.474T>C (p.Ser158=) c.483T>C (p.Ser161=) n.550T>C c.6T>C (p.Ser2=) n.770T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.94478805A>T | CA476286879 | MRE11 | c.474T>A (p.Ser158=) c.483T>A (p.Ser161=) n.550T>A c.6T>A (p.Ser2=) n.770T>A | |
| 11 | g.94478806G>A | CA382377515 | MRE11 | c.473C>T (p.Ser158Phe) c.482C>T (p.Ser161Phe) n.549C>T c.5C>T (p.Ser2Phe) n.769C>T | dbSNP |