| 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.17387253T>A | CA379770349 | KCNJ11 | c.578A>T (p.Asp193Val) c.839A>T (p.Asp280Val) n.997A>T | |
| 11 | g.17387253T>C | CA379770351 | KCNJ11 | c.578A>G (p.Asp193Gly) c.839A>G (p.Asp280Gly) n.997A>G | |
| 11 | g.17387253T>G | CA379770353 | KCNJ11 | c.578A>C (p.Asp193Ala) c.839A>C (p.Asp280Ala) n.997A>C | |
| 11 | g.17387254C>A | CA379770361 | KCNJ11 | c.577G>T (p.Asp193Tyr) c.838G>T (p.Asp280Tyr) n.996G>T | COSMIC |
| 11 | g.17387254C>G | CA379770359 | KCNJ11 | c.577G>C (p.Asp193His) c.838G>C (p.Asp280His) n.996G>C | |
| 11 | g.17387254C>T | CA379770357 | KCNJ11 | c.577G>A (p.Asp193Asn) c.838G>A (p.Asp280Asn) n.996G>A | |
| 11 | g.17387255dup | CA3003288743 | KCNJ11 | c.577dup (p.Asp193GlyfsTer29) c.838dup (p.Asp280GlyfsTer29) n.996dup | |
| 11 | g.17387255C>A | CA379770365 | KCNJ11 | c.576G>T (p.Gln192His) c.837G>T (p.Gln279His) n.995G>T | |
| 11 | g.17387255C>G | CA379770368 | KCNJ11 | c.576G>C (p.Gln192His) c.837G>C (p.Gln279His) n.995G>C | |
| 11 | g.17387255C>T | CA473515371 | KCNJ11 | c.576G>A (p.Gln192=) c.837G>A (p.Gln279=) n.995G>A | |
| 11 | g.17387256T>A | CA379770372 | KCNJ11 | c.575A>T (p.Gln192Leu) c.836A>T (p.Gln279Leu) n.994A>T | |
| 11 | g.17387256T>C | CA379770375 | KCNJ11 | c.575A>G (p.Gln192Arg) c.836A>G (p.Gln279Arg) n.994A>G | |
| 11 | g.17387256T>G | CA379770378 | KCNJ11 | c.575A>C (p.Gln192Pro) c.836A>C (p.Gln279Pro) n.994A>C | |
| 11 | g.17387264_17387266del | CA3003288752 | KCNJ11 | c.573_575del (p.His191del) c.834_836del (p.His278del) n.992_994del | |
| 11 | g.17387257G>A | CA379770382 | KCNJ11 | c.574C>T (p.Gln192Ter) c.835C>T (p.Gln279Ter) n.993C>T | gnomAD v4 |
| 11 | g.17387257G>C | CA379770386 | KCNJ11 | c.574C>G (p.Gln192Glu) c.835C>G (p.Gln279Glu) n.993C>G | |
| 11 | g.17387257G>T | CA379770387 | KCNJ11 | c.574C>A (p.Gln192Lys) c.835C>A (p.Gln279Lys) n.993C>A | |
| 11 | g.17387258dup | CA2840305412 | KCNJ11 | c.574dup (p.Gln192ProfsTer30) c.835dup (p.Gln279ProfsTer30) n.993dup | |
| 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 |