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.17387255_17387272del | CA2695201085 | KCNJ11 | c.564_581del (p.His189_Leu194del) c.825_842del (p.His276_Leu281del) n.983_1000del | ClinVar |
| 11 | g.17387258G>A | CA473515375 | KCNJ11 | c.573C>T (p.His191=) c.834C>T (p.His278=) n.992C>T | |
| 11 | g.17387258G>C | CA379770392 | KCNJ11 | c.573C>G (p.His191Gln) c.834C>G (p.His278Gln) n.992C>G | |
| 11 | g.17387258G>T | CA379770395 | KCNJ11 | c.573C>A (p.His191Gln) c.834C>A (p.His278Gln) n.992C>A | |
| 11 | g.17387259T>A | CA379770398 | KCNJ11 | c.572A>T (p.His191Leu) c.833A>T (p.His278Leu) n.991A>T | |
| 11 | g.17387259T>C | CA379770401 | KCNJ11 | c.572A>G (p.His191Arg) c.833A>G (p.His278Arg) n.991A>G | |
| 11 | g.17387259T>G | CA379770404 | KCNJ11 | c.572A>C (p.His191Pro) c.833A>C (p.His278Pro) n.991A>C | |
| 11 | g.17387260G>A | CA379770413 | KCNJ11 | c.571C>T (p.His191Tyr) c.832C>T (p.His278Tyr) n.990C>T | |
| 11 | g.17387260G>C | CA379770416 | KCNJ11 | c.571C>G (p.His191Asp) c.832C>G (p.His278Asp) n.990C>G | |
| 11 | g.17387260G>T | CA379770407 | KCNJ11 | c.571C>A (p.His191Asn) c.832C>A (p.His278Asn) n.990C>A | |
| 11 | g.17387261G>A | CA5902235 | KCNJ11 | c.570C>T (p.His190=) c.831C>T (p.His277=) n.989C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387261G>C | CA379770422 | KCNJ11 | c.570C>G (p.His190Gln) c.831C>G (p.His277Gln) n.989C>G | |
| 11 | g.17387261G= | CA1955119184 | KCNJ11 | c.570C= (p.His190=) c.831C= (p.His277=) n.989C= | |
| 11 | g.17387261G>T | CA379770425 | KCNJ11 | c.570C>A (p.His190Gln) c.831C>A (p.His277Gln) n.989C>A | |
| 11 | g.17387262T>A | CA379770429 | KCNJ11 | c.569A>T (p.His190Leu) c.830A>T (p.His277Leu) n.988A>T | |
| 11 | g.17387262T>C | CA379770430 | KCNJ11 | c.569A>G (p.His190Arg) c.830A>G (p.His277Arg) n.988A>G | |
| 11 | g.17387262T>G | CA379770431 | KCNJ11 | c.569A>C (p.His190Pro) c.830A>C (p.His277Pro) n.988A>C | |
| 11 | g.17387263G>A | CA379770432 | KCNJ11 | c.568C>T (p.His190Tyr) c.829C>T (p.His277Tyr) n.987C>T | |
| 11 | g.17387263G>C | CA379770434 | KCNJ11 | c.568C>G (p.His190Asp) c.829C>G (p.His277Asp) n.987C>G | |
| 11 | g.17387263G>T | CA379770437 | KCNJ11 | c.568C>A (p.His190Asn) c.829C>A (p.His277Asn) n.987C>A | |
| 11 | g.17387268_17387281del | CA2612638664 | KCNJ11 | c.555_568del (p.Ser186ProfsTer?) c.816_829del (p.Ser273ProfsTer?) n.974_987del | ClinVar gnomAD v4 |
| 11 | g.17387264G>A | CA5902236 | KCNJ11 | c.567C>T (p.His189=) c.828C>T (p.His276=) n.986C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387264G>C | CA379770442 | KCNJ11 | c.567C>G (p.His189Gln) c.828C>G (p.His276Gln) n.986C>G | |
| 11 | g.17387264G= | CA1955119185 | KCNJ11 | c.567C= (p.His189=) c.828C= (p.His276=) n.986C= | |
| 11 | g.17387264G>T | CA379770445 | KCNJ11 | c.567C>A (p.His189Gln) c.828C>A (p.His276Gln) n.986C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387265T>A | CA379770446 | KCNJ11 | c.566A>T (p.His189Leu) c.827A>T (p.His276Leu) n.985A>T | |
| 11 | g.17387265T>C | CA379770447 | KCNJ11 | c.566A>G (p.His189Arg) c.827A>G (p.His276Arg) n.985A>G | |
| 11 | g.17387265T>G | CA218399541 | KCNJ11 | c.566A>C (p.His189Pro) c.827A>C (p.His276Pro) n.985A>C | dbSNP |
| 11 | g.17387265T= | CA1955119186 | KCNJ11 | c.566A= (p.His189=) c.827A= (p.His276=) n.985A= | |
| 11 | g.17387266G>A | CA379770450 | KCNJ11 | c.565C>T (p.His189Tyr) c.826C>T (p.His276Tyr) n.984C>T | gnomAD v4 |
| 11 | g.17387266G>C | CA379770451 | KCNJ11 | c.565C>G (p.His189Asp) c.826C>G (p.His276Asp) n.984C>G | |
| 11 | g.17387266G>T | CA379770452 | KCNJ11 | c.565C>A (p.His189Asn) c.826C>A (p.His276Asn) n.984C>A | |
| 11 | g.17387267C>A | CA473515384 | KCNJ11 | c.564G>T (p.Leu188=) c.825G>T (p.Leu275=) n.983G>T | |
| 11 | g.17387267C>G | CA473515385 | KCNJ11 | c.564G>C (p.Leu188=) c.825G>C (p.Leu275=) n.983G>C | |
| 11 | g.17387267C>T | CA473515387 | KCNJ11 | c.564G>A (p.Leu188=) c.825G>A (p.Leu275=) n.983G>A | dbSNP gnomAD v4 |
| 11 | g.17387268A>C | CA379770455 | KCNJ11 | c.563T>G (p.Leu188Arg) c.824T>G (p.Leu275Arg) n.982T>G | |
| 11 | g.17387268A>G | CA379770457 | KCNJ11 | c.563T>C (p.Leu188Pro) c.824T>C (p.Leu275Pro) n.982T>C | |
| 11 | g.17387268A>T | CA379770460 | KCNJ11 | c.563T>A (p.Leu188Gln) c.824T>A (p.Leu275Gln) n.982T>A | |
| 11 | g.17387269G>A | CA473515390 | KCNJ11 | c.562C>T (p.Leu188=) c.823C>T (p.Leu275=) n.981C>T | |
| 11 | g.17387269G>C | CA379770461 | KCNJ11 | c.562C>G (p.Leu188Val) c.823C>G (p.Leu275Val) n.981C>G | |
| 11 | g.17387269G>T | CA379770462 | KCNJ11 | c.562C>A (p.Leu188Met) c.823C>A (p.Leu275Met) n.981C>A | |
| 11 | g.17387270G>A | CA473515392 | KCNJ11 | c.561C>T (p.Asp187=) c.822C>T (p.Asp274=) n.980C>T | |
| 11 | g.17387270G>C | CA379770463 | KCNJ11 | c.561C>G (p.Asp187Glu) c.822C>G (p.Asp274Glu) n.980C>G | |
| 11 | g.17387270G>T | CA379770466 | KCNJ11 | c.561C>A (p.Asp187Glu) c.822C>A (p.Asp274Glu) n.980C>A | |
| 11 | g.17387271T>A | CA379770473 | KCNJ11 | c.560A>T (p.Asp187Val) c.821A>T (p.Asp274Val) n.979A>T | |
| 11 | g.17387271T>C | CA238619 | KCNJ11 | c.560A>G (p.Asp187Gly) c.821A>G (p.Asp274Gly) n.979A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387271T>G | CA379770470 | KCNJ11 | c.560A>C (p.Asp187Ala) c.821A>C (p.Asp274Ala) n.979A>C | |
| 11 | g.17387271T= | CA1955119187 | KCNJ11 | c.560A= (p.Asp187=) c.821A= (p.Asp274=) n.979A= | |
| 11 | g.17387272C>A | CA5902238 | KCNJ11 | c.559G>T (p.Asp187Tyr) c.820G>T (p.Asp274Tyr) n.978G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387272C= | CA1955119188 | KCNJ11 | c.559G= (p.Asp187=) c.820G= (p.Asp274=) n.978G= |