| 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.17387264_17387266del | CA3003288752 | KCNJ11 | c.573_575del (p.His191del) c.834_836del (p.His278del) n.992_994del | |
| 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.17387270dup | CA3003288760 | KCNJ11 | c.562dup (p.Leu188ProfsTer?) c.823dup (p.Leu275ProfsTer?) n.981dup | |
| 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= | |
| 11 | g.17387272C>G | CA379770478 | KCNJ11 | c.559G>C (p.Asp187His) c.820G>C (p.Asp274His) n.978G>C | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387272C>T | CA5902237 | KCNJ11 | c.559G>A (p.Asp187Asn) c.820G>A (p.Asp274Asn) n.978G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.17387272dup | CA3003288764 | KCNJ11 | c.559dup (p.Asp187GlyfsTer?) c.820dup (p.Asp274GlyfsTer?) n.978dup | |
| 11 | g.17387273G>A | CA5902239 | KCNJ11 | c.558C>T (p.Ser186=) c.819C>T (p.Ser273=) n.977C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387273G>C | CA379770494 | KCNJ11 | c.558C>G (p.Ser186Arg) c.819C>G (p.Ser273Arg) n.977C>G | |
| 11 | g.17387273G= | CA1955119189 | KCNJ11 | c.558C= (p.Ser186=) c.819C= (p.Ser273=) n.977C= | |
| 11 | g.17387273G>T | CA379770495 | KCNJ11 | c.558C>A (p.Ser186Arg) c.819C>A (p.Ser273Arg) n.977C>A | gnomAD v4 |
| 11 | g.17387274C>A | CA379770499 | KCNJ11 | c.557G>T (p.Ser186Ile) c.818G>T (p.Ser273Ile) n.976G>T | |
| 11 | g.17387274C>G | CA379770497 | KCNJ11 | c.557G>C (p.Ser186Thr) c.818G>C (p.Ser273Thr) n.976G>C | |
| 11 | g.17387274C>T | CA379770496 | KCNJ11 | c.557G>A (p.Ser186Asn) c.818G>A (p.Ser273Asn) n.976G>A | |
| 11 | g.17387275T>A | CA379770505 | KCNJ11 | c.556A>T (p.Ser186Cys) c.817A>T (p.Ser273Cys) n.975A>T | |
| 11 | g.17387275T>C | CA5902240 | KCNJ11 | c.556A>G (p.Ser186Gly) c.817A>G (p.Ser273Gly) n.975A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387275T>G | CA379770508 | KCNJ11 | c.556A>C (p.Ser186Arg) c.817A>C (p.Ser273Arg) n.975A>C | |
| 11 | g.17387275T= | CA1955119190 | KCNJ11 | c.556A= (p.Ser186=) c.817A= (p.Ser273=) n.975A= | |
| 11 | g.17387276G>A | CA473515399 | KCNJ11 | c.555C>T (p.Pro185=) c.816C>T (p.Pro272=) n.974C>T | gnomAD v4 |
| 11 | g.17387276G>C | CA473515400 | KCNJ11 | c.555C>G (p.Pro185=) c.816C>G (p.Pro272=) n.974C>G | |
| 11 | g.17387276G>T | CA473515401 | KCNJ11 | c.555C>A (p.Pro185=) c.816C>A (p.Pro272=) n.974C>A |