Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17387240G>A | CA5902233 | KCNJ11 | c.591C>T (p.Ile197=) c.852C>T (p.Ile284=) n.1010C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387240G>C | CA379770287 | KCNJ11 | c.591C>G (p.Ile197Met) c.852C>G (p.Ile284Met) n.1010C>G | |
11 | g.17387240G= | CA1955119177 | KCNJ11 | c.591C= (p.Ile197=) c.852C= (p.Ile284=) n.1010C= | |
11 | g.17387240G>T | CA172348 | KCNJ11 | c.591C>A (p.Ile197=) c.852C>A (p.Ile284=) n.1010C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387243_17387245dup | CA674172893 | KCNJ11 | c.589_591dup (p.Ile197_Val198insIle) c.850_852dup (p.Ile284_Val285insIle) n.1008_1010dup | dbSNP gnomAD v4 |
11 | g.17387243_17387245del | CA2580615636 | KCNJ11 | c.589_591del (p.Ile197del) c.850_852del (p.Ile284del) n.1008_1010del | ClinVar gnomAD v4 |
11 | g.17387241A>C | CA379770291 | KCNJ11 | c.590T>G (p.Ile197Ser) c.851T>G (p.Ile284Ser) n.1009T>G | |
11 | g.17387241A>G | CA379770293 | KCNJ11 | c.590T>C (p.Ile197Thr) c.851T>C (p.Ile284Thr) n.1009T>C | gnomAD v4 |
11 | g.17387241A>T | CA379770294 | KCNJ11 | c.590T>A (p.Ile197Asn) c.851T>A (p.Ile284Asn) n.1009T>A | |
11 | g.17387242T>A | CA379770295 | KCNJ11 | c.589A>T (p.Ile197Phe) c.850A>T (p.Ile284Phe) n.1008A>T | |
11 | g.17387242T>C | CA379770297 | KCNJ11 | c.589A>G (p.Ile197Val) c.850A>G (p.Ile284Val) n.1008A>G | |
11 | g.17387242T>G | CA379770299 | KCNJ11 | c.589A>C (p.Ile197Leu) c.850A>C (p.Ile284Leu) n.1008A>C | |
11 | g.17387243G>A | CA5902234 | KCNJ11 | c.588C>T (p.Ile196=) c.849C>T (p.Ile283=) n.1007C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387243G>C | CA379770302 | KCNJ11 | c.588C>G (p.Ile196Met) c.849C>G (p.Ile283Met) n.1007C>G | |
11 | g.17387243G= | CA1955119178 | KCNJ11 | c.588C= (p.Ile196=) c.849C= (p.Ile283=) n.1007C= | |
11 | g.17387243G>T | CA473515354 | KCNJ11 | c.588C>A (p.Ile196=) c.849C>A (p.Ile283=) n.1007C>A | gnomAD v4 COSMIC |
11 | g.17387244A= | CA1955119179 | KCNJ11 | c.587T= (p.Ile196=) c.848T= (p.Ile283=) n.1006T= | |
11 | g.17387244A>C | CA379770303 | KCNJ11 | c.587T>G (p.Ile196Ser) c.848T>G (p.Ile283Ser) n.1006T>G | gnomAD v4 |
11 | g.17387244A>G | CA379770305 | KCNJ11 | c.587T>C (p.Ile196Thr) c.848T>C (p.Ile283Thr) n.1006T>C | gnomAD v4 |
11 | g.17387244A>T | CA379770307 | KCNJ11 | c.587T>A (p.Ile196Asn) c.848T>A (p.Ile283Asn) n.1006T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387245T>A | CA379770309 | KCNJ11 | c.586A>T (p.Ile196Phe) c.847A>T (p.Ile283Phe) n.1005A>T | |
11 | g.17387245T>C | CA379770311 | KCNJ11 | c.586A>G (p.Ile196Val) c.847A>G (p.Ile283Val) n.1005A>G | |
11 | g.17387245T>G | CA379770308 | KCNJ11 | c.586A>C (p.Ile196Leu) c.847A>C (p.Ile283Leu) n.1005A>C | |
11 | g.17387246C>A | CA379770313 | KCNJ11 | c.585G>T (p.Glu195Asp) c.846G>T (p.Glu282Asp) n.1004G>T | |
11 | g.17387246C>G | CA379770314 | KCNJ11 | c.585G>C (p.Glu195Asp) c.846G>C (p.Glu282Asp) n.1004G>C | |
11 | g.17387246C>T | CA473515358 | KCNJ11 | c.585G>A (p.Glu195=) c.846G>A (p.Glu282=) n.1004G>A | gnomAD v4 |
11 | g.17387247T>A | CA379770316 | KCNJ11 | c.584A>T (p.Glu195Val) c.845A>T (p.Glu282Val) n.1003A>T | |
11 | g.17387247T>C | CA379770321 | KCNJ11 | c.584A>G (p.Glu195Gly) c.845A>G (p.Glu282Gly) n.1003A>G | |
11 | g.17387247T>G | CA379770318 | KCNJ11 | c.584A>C (p.Glu195Ala) c.845A>C (p.Glu282Ala) n.1003A>C | |
11 | g.17387248C>A | CA379770326 | KCNJ11 | c.583G>T (p.Glu195Ter) c.844G>T (p.Glu282Ter) n.1002G>T | ClinVar |
11 | g.17387248C= | CA1955119180 | KCNJ11 | c.583G= (p.Glu195=) c.844G= (p.Glu282=) n.1002G= | |
11 | g.17387248C>G | CA379770329 | KCNJ11 | c.583G>C (p.Glu195Gln) c.844G>C (p.Glu282Gln) n.1002G>C | ClinVar |
11 | g.17387248C>T | CA254526 | KCNJ11 | c.583G>A (p.Glu195Lys) c.844G>A (p.Glu282Lys) n.1002G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17387248_17387251del | CA912971886 | KCNJ11 | c.580_583del (p.Leu194ArgfsTer?) c.841_844del (p.Leu281ArgfsTer?) n.999_1002del | |
11 | g.17387248_17387251delinsCGAG | CA1955119181 | KCNJ11 | c.580_583delinsCTCG (p.Leu194=) c.841_844delinsCTCG (p.Leu281=) n.999_1002delinsCTCG | |
11 | g.17387249G>A | CA208185 | KCNJ11 | c.582C>T (p.Leu194=) c.843C>T (p.Leu281=) n.1001C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387249G>C | CA473515361 | KCNJ11 | c.582C>G (p.Leu194=) c.843C>G (p.Leu281=) n.1001C>G | |
11 | g.17387249G= | CA1955119182 | KCNJ11 | c.582C= (p.Leu194=) c.843C= (p.Leu281=) n.1001C= | |
11 | g.17387249G>T | CA473515362 | KCNJ11 | c.582C>A (p.Leu194=) c.843C>A (p.Leu281=) n.1001C>A | |
11 | g.17387250_17387252del | CA658822452 | KCNJ11 | c.580_582del (p.Leu194del) c.841_843del (p.Leu281del) n.999_1001del | ClinVar dbSNP |
11 | g.17387250A>C | CA379770334 | KCNJ11 | c.581T>G (p.Leu194Arg) c.842T>G (p.Leu281Arg) n.1000T>G | |
11 | g.17387250A>G | CA379770335 | KCNJ11 | c.581T>C (p.Leu194Pro) c.842T>C (p.Leu281Pro) n.1000T>C | |
11 | g.17387250A>T | CA379770337 | KCNJ11 | c.581T>A (p.Leu194His) c.842T>A (p.Leu281His) n.1000T>A | |
11 | g.17387255_17387272del | CA2695201085 | KCNJ11 | c.564_581del (p.His189_Leu194del) c.825_842del (p.His276_Leu281del) n.983_1000del | ClinVar |
11 | g.17387251G>A | CA379770339 | KCNJ11 | c.580C>T (p.Leu194Phe) c.841C>T (p.Leu281Phe) n.999C>T | |
11 | g.17387251G>C | CA379770341 | KCNJ11 | c.580C>G (p.Leu194Val) c.841C>G (p.Leu281Val) n.999C>G | gnomAD v4 |
11 | g.17387251G>T | CA379770343 | KCNJ11 | c.580C>A (p.Leu194Ile) c.841C>A (p.Leu281Ile) n.999C>A | |
11 | g.17387252G>A | CA473515367 | KCNJ11 | c.579C>T (p.Asp193=) c.840C>T (p.Asp280=) n.998C>T | |
11 | g.17387252G>C | CA379770344 | KCNJ11 | c.579C>G (p.Asp193Glu) c.840C>G (p.Asp280Glu) n.998C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387252G= | CA1955119183 | KCNJ11 | c.579C= (p.Asp193=) c.840C= (p.Asp280=) n.998C= | |
11 | g.17387252G>T | CA379770346 | KCNJ11 | c.579C>A (p.Asp193Glu) c.840C>A (p.Asp280Glu) n.998C>A | |
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.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.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.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= | |
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.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 | |
11 | g.17387277G>A | CA379770510 | KCNJ11 | c.554C>T (p.Pro185Leu) c.815C>T (p.Pro272Leu) n.973C>T | |
11 | g.17387277G>C | CA379770511 | KCNJ11 | c.554C>G (p.Pro185Arg) c.815C>G (p.Pro272Arg) n.973C>G | |
11 | g.17387277G>T | CA379770512 | KCNJ11 | c.554C>A (p.Pro185His) c.815C>A (p.Pro272His) n.973C>A | |
11 | g.17387277_17387278insA | CA2695213384 | KCNJ11 | c.553_554insT (p.Pro185LeufsTer?) c.814_815insT (p.Pro272LeufsTer?) n.972_973insT | |
11 | g.17387278G>A | CA379770514 | KCNJ11 | c.553C>T (p.Pro185Ser) c.814C>T (p.Pro272Ser) n.972C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387278G>C | CA379770519 | KCNJ11 | c.553C>G (p.Pro185Ala) c.814C>G (p.Pro272Ala) n.972C>G | |
11 | g.17387278G= | CA1955119191 | KCNJ11 | c.553C= (p.Pro185=) c.814C= (p.Pro272=) n.972C= | |
11 | g.17387278G>T | CA379770516 | KCNJ11 | c.553C>A (p.Pro185Thr) c.814C>A (p.Pro272Thr) n.972C>A | |
11 | g.17387278_17387279insA | CA5902241 | KCNJ11 | c.552_553insT (p.Pro185SerfsTer?) c.813_814insT (p.Pro272SerfsTer?) n.971_972insT | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387279T>A | CA5902242 | KCNJ11 | c.552A>T (p.Ala184=) c.813A>T (p.Ala271=) n.971A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387279T>C | CA473515402 | KCNJ11 | c.552A>G (p.Ala184=) c.813A>G (p.Ala271=) n.971A>G | |
11 | g.17387279T>G | CA473515403 | KCNJ11 | c.552A>C (p.Ala184=) c.813A>C (p.Ala271=) n.971A>C | |
11 | g.17387279T= | CA1955119192 | KCNJ11 | c.552A= (p.Ala184=) c.813A= (p.Ala271=) n.971A= | |
11 | g.17387279delinsAA | CA2695213386 | KCNJ11 | c.552delinsTT (p.Pro185SerfsTer?) c.813delinsTT (p.Pro272SerfsTer?) n.971delinsTT | |
11 | g.17387279delinsAGA | CA2695213385 | KCNJ11 | c.552delinsTCT (p.Pro185LeufsTer?) c.813delinsTCT (p.Pro272LeufsTer?) n.971delinsTCT | |
11 | g.17387280G>A | CA379770532 | KCNJ11 | c.551C>T (p.Ala184Val) c.812C>T (p.Ala271Val) n.970C>T | |
11 | g.17387280G>C | CA379770534 | KCNJ11 | c.551C>G (p.Ala184Gly) c.812C>G (p.Ala271Gly) n.970C>G | |
11 | g.17387280G>T | CA379770538 | KCNJ11 | c.551C>A (p.Ala184Glu) c.812C>A (p.Ala271Glu) n.970C>A | |
11 | g.17387281C>A | CA379770542 | KCNJ11 | c.550G>T (p.Ala184Ser) c.811G>T (p.Ala271Ser) n.969G>T | |
11 | g.17387281C>G | CA379770545 | KCNJ11 | c.550G>C (p.Ala184Pro) c.811G>C (p.Ala271Pro) n.969G>C | |
11 | g.17387281C>T | CA379770546 | KCNJ11 | c.550G>A (p.Ala184Thr) c.811G>A (p.Ala271Thr) n.969G>A | ClinVar gnomAD v4 |
11 | g.17387282C>A | CA473515404 | KCNJ11 | c.549G>T (p.Leu183=) c.810G>T (p.Leu270=) n.968G>T | |
11 | g.17387282C= | CA1955119193 | KCNJ11 | c.549G= (p.Leu183=) c.810G= (p.Leu270=) n.968G= | |
11 | g.17387282C>G | CA473515405 | KCNJ11 | c.549G>C (p.Leu183=) c.810G>C (p.Leu270=) n.968G>C | |
11 | g.17387282C>T | CA473515406 | KCNJ11 | c.549G>A (p.Leu183=) c.810G>A (p.Leu270=) n.968G>A | dbSNP gnomAD v4 |
11 | g.17387283A>C | CA379770547 | KCNJ11 | c.548T>G (p.Leu183Arg) c.809T>G (p.Leu270Arg) n.967T>G | |
11 | g.17387283A>G | CA379770548 | KCNJ11 | c.548T>C (p.Leu183Pro) c.809T>C (p.Leu270Pro) n.967T>C | |
11 | g.17387283A>T | CA379770550 | KCNJ11 | c.548T>A (p.Leu183Gln) c.809T>A (p.Leu270Gln) n.967T>A | |
11 | g.17387284G>A | CA473515407 | KCNJ11 | c.547C>T (p.Leu183=) c.808C>T (p.Leu270=) n.966C>T | |
11 | g.17387284G>C | CA172346 | KCNJ11 | c.547C>G (p.Leu183Val) c.808C>G (p.Leu270Val) n.966C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387284G= | CA1955119194 | KCNJ11 | c.547C= (p.Leu183=) c.808C= (p.Leu270=) n.966C= | |
11 | g.17387284G>T | CA5902243 | KCNJ11 | c.547C>A (p.Leu183Met) c.808C>A (p.Leu270Met) n.966C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387285G>A | CA473515408 | KCNJ11 | c.546C>T (p.Asp182=) c.807C>T (p.Asp269=) n.965C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387285G>C | CA379770561 | KCNJ11 | c.546C>G (p.Asp182Glu) c.807C>G (p.Asp269Glu) n.965C>G | |
11 | g.17387285G= | CA1955119195 | KCNJ11 | c.546C= (p.Asp182=) c.807C= (p.Asp269=) n.965C= | |
11 | g.17387285G>T | CA379770563 | KCNJ11 | c.546C>A (p.Asp182Glu) c.807C>A (p.Asp269Glu) n.965C>A | COSMIC |
11 | g.17387286T>A | CA379770567 | KCNJ11 | c.545A>T (p.Asp182Val) c.806A>T (p.Asp269Val) n.964A>T | |
11 | g.17387286T>C | CA379770570 | KCNJ11 | c.545A>G (p.Asp182Gly) c.806A>G (p.Asp269Gly) n.964A>G | |
11 | g.17387286T>G | CA379770573 | KCNJ11 | c.545A>C (p.Asp182Ala) c.806A>C (p.Asp269Ala) n.964A>C | |
11 | g.17387287C>A | CA379770587 | KCNJ11 | c.544G>T (p.Asp182Tyr) c.805G>T (p.Asp269Tyr) n.963G>T | |
11 | g.17387287C= | CA1955119196 | KCNJ11 | c.544G= (p.Asp182=) c.805G= (p.Asp269=) n.963G= | |
11 | g.17387287C>G | CA379770583 | KCNJ11 | c.544G>C (p.Asp182His) c.805G>C (p.Asp269His) n.963G>C | |
11 | g.17387287C>T | CA5902244 | KCNJ11 | c.544G>A (p.Asp182Asn) c.805G>A (p.Asp269Asn) n.963G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387288G>A | CA5902245 | KCNJ11 | c.543C>T (p.Tyr181=) c.804C>T (p.Tyr268=) n.962C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387288G>C | CA379770593 | KCNJ11 | c.543C>G (p.Tyr181Ter) c.804C>G (p.Tyr268Ter) n.962C>G | |
11 | g.17387288G= | CA1955119197 | KCNJ11 | c.543C= (p.Tyr181=) c.804C= (p.Tyr268=) n.962C= | |
11 | g.17387288G>T | CA379770596 | KCNJ11 | c.543C>A (p.Tyr181Ter) c.804C>A (p.Tyr268Ter) n.962C>A | |
11 | g.17387289T>A | CA379770599 | KCNJ11 | c.542A>T (p.Tyr181Phe) c.803A>T (p.Tyr268Phe) n.961A>T | ClinVar dbSNP |
11 | g.17387289T>C | CA379770603 | KCNJ11 | c.542A>G (p.Tyr181Cys) c.803A>G (p.Tyr268Cys) n.961A>G | |
11 | g.17387289T>G | CA379770606 | KCNJ11 | c.542A>C (p.Tyr181Ser) c.803A>C (p.Tyr268Ser) n.961A>C | |
11 | g.17387289T= | CA1955119198 | KCNJ11 | c.542A= (p.Tyr181=) c.803A= (p.Tyr268=) n.961A= | |
11 | g.17387290A>C | CA379770610 | KCNJ11 | c.541T>G (p.Tyr181Asp) c.802T>G (p.Tyr268Asp) n.960T>G | |
11 | g.17387290A>G | CA379770615 | KCNJ11 | c.541T>C (p.Tyr181His) c.802T>C (p.Tyr268His) n.960T>C | |
11 | g.17387290A>T | CA379770612 | KCNJ11 | c.541T>A (p.Tyr181Asn) c.802T>A (p.Tyr268Asn) n.960T>A | |
11 | g.17387291G>A | CA473515409 | KCNJ11 | c.540C>T (p.Leu180=) c.801C>T (p.Leu267=) n.959C>T | dbSNP |
11 | g.17387291G>C | CA172344 | KCNJ11 | c.540C>G (p.Leu180=) c.801C>G (p.Leu267=) n.959C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387291G= | CA1630848603 | KCNJ11 | c.540C= (p.Leu180=) c.801C= (p.Leu267=) n.959C= | |
11 | g.17387291G>T | CA473515410 | KCNJ11 | c.540C>A (p.Leu180=) c.801C>A (p.Leu267=) n.959C>A | |
11 | g.17387292A>C | CA379770621 | KCNJ11 | c.539T>G (p.Leu180Arg) c.800T>G (p.Leu267Arg) n.958T>G | |
11 | g.17387292A>G | CA379770624 | KCNJ11 | c.539T>C (p.Leu180Pro) c.800T>C (p.Leu267Pro) n.958T>C | |
11 | g.17387292A>T | CA379770627 | KCNJ11 | c.539T>A (p.Leu180His) c.800T>A (p.Leu267His) n.958T>A | |
11 | g.17387293G>A | CA379770629 | KCNJ11 | c.538C>T (p.Leu180Phe) c.799C>T (p.Leu267Phe) n.957C>T | |
11 | g.17387293G>C | CA379770635 | KCNJ11 | c.538C>G (p.Leu180Val) c.799C>G (p.Leu267Val) n.957C>G | |
11 | g.17387293G>T | CA379770640 | KCNJ11 | c.538C>A (p.Leu180Ile) c.799C>A (p.Leu267Ile) n.957C>A | |
11 | g.17387294T>A | CA473515411 | KCNJ11 | c.537A>T (p.Pro179=) c.798A>T (p.Pro266=) n.956A>T | |
11 | g.17387294T>C | CA5902246 | KCNJ11 | c.537A>G (p.Pro179=) c.798A>G (p.Pro266=) n.956A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387294T>G | CA473515412 | KCNJ11 | c.537A>C (p.Pro179=) c.798A>C (p.Pro266=) n.956A>C | |
11 | g.17387294T= | CA1955119199 | KCNJ11 | c.537A= (p.Pro179=) c.798A= (p.Pro266=) n.956A= | |
11 | g.17387295G>A | CA379770647 | KCNJ11 | c.536C>T (p.Pro179Leu) c.797C>T (p.Pro266Leu) n.955C>T | ClinVar dbSNP COSMIC |
11 | g.17387295G>C | CA379770649 | KCNJ11 | c.536C>G (p.Pro179Arg) c.797C>G (p.Pro266Arg) n.955C>G | |
11 | g.17387295G= | CA1955119200 | KCNJ11 | c.536C= (p.Pro179=) c.797C= (p.Pro266=) n.955C= | |
11 | g.17387295G>T | CA379770652 | KCNJ11 | c.536C>A (p.Pro179Gln) c.797C>A (p.Pro266Gln) n.955C>A | |
11 | g.17387296G>A | CA379770658 | KCNJ11 | c.535C>T (p.Pro179Ser) c.796C>T (p.Pro266Ser) n.954C>T | COSMIC |
11 | g.17387296G>C | CA379770657 | KCNJ11 | c.535C>G (p.Pro179Ala) c.796C>G (p.Pro266Ala) n.954C>G | |
11 | g.17387296G= | CA1955119201 | KCNJ11 | c.535C= (p.Pro179=) c.796C= (p.Pro266=) n.954C= | |
11 | g.17387296G>T | CA379770656 | KCNJ11 | c.535C>A (p.Pro179Thr) c.796C>A (p.Pro266Thr) n.954C>A | dbSNP |
11 | g.17387297G>A | CA473515413 | KCNJ11 | c.534C>T (p.Ser178=) c.795C>T (p.Ser265=) n.953C>T | ClinVar dbSNP gnomAD v4 |
11 | g.17387297G>C | CA379770659 | KCNJ11 | c.534C>G (p.Ser178Arg) c.795C>G (p.Ser265Arg) n.953C>G | |
11 | g.17387297G>T | CA379770662 | KCNJ11 | c.534C>A (p.Ser178Arg) c.795C>A (p.Ser265Arg) n.953C>A | gnomAD v4 |
11 | g.17387298C>A | CA379770671 | KCNJ11 | c.533G>T (p.Ser178Ile) c.794G>T (p.Ser265Ile) n.952G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387298C= | CA1955119202 | KCNJ11 | c.533G= (p.Ser178=) c.794G= (p.Ser265=) n.952G= | |
11 | g.17387298C>G | CA379770674 | KCNJ11 | c.533G>C (p.Ser178Thr) c.794G>C (p.Ser265Thr) n.952G>C | |
11 | g.17387298C>T | CA379770678 | KCNJ11 | c.533G>A (p.Ser178Asn) c.794G>A (p.Ser265Asn) n.952G>A | |
11 | g.17387299T>A | CA379770686 | KCNJ11 | c.532A>T (p.Ser178Cys) c.793A>T (p.Ser265Cys) n.951A>T | |
11 | g.17387299T>C | CA379770689 | KCNJ11 | c.532A>G (p.Ser178Gly) c.793A>G (p.Ser265Gly) n.951A>G | |
11 | g.17387299T>G | CA379770695 | KCNJ11 | c.532A>C (p.Ser178Arg) c.793A>C (p.Ser265Arg) n.951A>C | |
11 | g.17387300G>A | CA473515414 | KCNJ11 | c.531C>T (p.Asn177=) c.792C>T (p.Asn264=) n.950C>T | ClinVar dbSNP gnomAD v4 |
11 | g.17387300G>C | CA379770704 | KCNJ11 | c.531C>G (p.Asn177Lys) c.792C>G (p.Asn264Lys) n.950C>G | gnomAD v4 |
11 | g.17387300G= | CA1955119203 | KCNJ11 | c.531C= (p.Asn177=) c.792C= (p.Asn264=) n.950C= | |
11 | g.17387300G>T | CA379770713 | KCNJ11 | c.531C>A (p.Asn177Lys) c.792C>A (p.Asn264Lys) n.950C>A | |
11 | g.17387301T>A | CA379770716 | KCNJ11 | c.530A>T (p.Asn177Ile) c.791A>T (p.Asn264Ile) n.949A>T | |
11 | g.17387301T>C | CA379770717 | KCNJ11 | c.530A>G (p.Asn177Ser) c.791A>G (p.Asn264Ser) n.949A>G | |
11 | g.17387301T>G | CA379770718 | KCNJ11 | c.530A>C (p.Asn177Thr) c.791A>C (p.Asn264Thr) n.949A>C | |
11 | g.17387302T>A | CA379770721 | KCNJ11 | c.529A>T (p.Asn177Tyr) c.790A>T (p.Asn264Tyr) n.948A>T | |
11 | g.17387302T>C | CA379770723 | KCNJ11 | c.529A>G (p.Asn177Asp) c.790A>G (p.Asn264Asp) n.948A>G | |
11 | g.17387302T>G | CA379770726 | KCNJ11 | c.529A>C (p.Asn177His) c.790A>C (p.Asn264His) n.948A>C | |
11 | g.17387303G>A | CA473515415 | KCNJ11 | c.528C>T (p.Ala176=) c.789C>T (p.Ala263=) n.947C>T | ClinVar dbSNP gnomAD v4 |
11 | g.17387303G>C | CA473515416 | KCNJ11 | c.528C>G (p.Ala176=) c.789C>G (p.Ala263=) n.947C>G | |
11 | g.17387303G>T | CA473515417 | KCNJ11 | c.528C>A (p.Ala176=) c.789C>A (p.Ala263=) n.947C>A | |
11 | g.17387304G>A | CA379770731 | KCNJ11 | c.527C>T (p.Ala176Val) c.788C>T (p.Ala263Val) n.946C>T | |
11 | g.17387304G>C | CA379770732 | KCNJ11 | c.527C>G (p.Ala176Gly) c.788C>G (p.Ala263Gly) n.946C>G | |
11 | g.17387304G= | CA1955119204 | KCNJ11 | c.527C= (p.Ala176=) c.788C= (p.Ala263=) n.946C= | |
11 | g.17387304G>T | CA5902247 | KCNJ11 | c.527C>A (p.Ala176Asp) c.788C>A (p.Ala263Asp) n.946C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387305C>A | CA379770734 | KCNJ11 | c.526G>T (p.Ala176Ser) c.787G>T (p.Ala263Ser) n.945G>T | |
11 | g.17387305C>G | CA379770736 | KCNJ11 | c.526G>C (p.Ala176Pro) c.787G>C (p.Ala263Pro) n.945G>C | |
11 | g.17387305C>T | CA379770738 | KCNJ11 | c.526G>A (p.Ala176Thr) c.787G>A (p.Ala263Thr) n.945G>A | |
11 | g.17387306A>C | CA379770746 | KCNJ11 | c.525T>G (p.Asp175Glu) c.786T>G (p.Asp262Glu) n.944T>G | |
11 | g.17387306A>G | CA473515418 | KCNJ11 | c.525T>C (p.Asp175=) c.786T>C (p.Asp262=) n.944T>C | |
11 | g.17387306A>T | CA379770749 | KCNJ11 | c.525T>A (p.Asp175Glu) c.786T>A (p.Asp262Glu) n.944T>A | |
11 | g.17387307T>A | CA379770753 | KCNJ11 | c.524A>T (p.Asp175Val) c.785A>T (p.Asp262Val) n.943A>T | |
11 | g.17387307T>C | CA379770758 | KCNJ11 | c.524A>G (p.Asp175Gly) c.785A>G (p.Asp262Gly) n.943A>G | |
11 | g.17387307T>G | CA379770760 | KCNJ11 | c.524A>C (p.Asp175Ala) c.785A>C (p.Asp262Ala) n.943A>C | |
11 | g.17387308C>A | CA379770762 | KCNJ11 | c.523G>T (p.Asp175Tyr) c.784G>T (p.Asp262Tyr) n.942G>T | |
11 | g.17387308C= | CA1955119205 | KCNJ11 | c.523G= (p.Asp175=) c.784G= (p.Asp262=) n.942G= | |
11 | g.17387308C>G | CA379770764 | KCNJ11 | c.523G>C (p.Asp175His) c.784G>C (p.Asp262His) n.942G>C | |
11 | g.17387308C>T | CA379770767 | KCNJ11 | c.523G>A (p.Asp175Asn) c.784G>A (p.Asp262Asn) n.942G>A | ClinVar dbSNP gnomAD v4 |
11 | g.17387309A>C | CA379770770 | KCNJ11 | c.522T>G (p.Ile174Met) c.783T>G (p.Ile261Met) n.941T>G | |
11 | g.17387309A>G | CA473515420 | KCNJ11 | c.522T>C (p.Ile174=) c.783T>C (p.Ile261=) n.941T>C | dbSNP |
11 | g.17387309A>T | CA473515419 | KCNJ11 | c.522T>A (p.Ile174=) c.783T>A (p.Ile261=) n.941T>A | |
11 | g.17387310A= | CA1955119206 | KCNJ11 | c.521T= (p.Ile174=) c.782T= (p.Ile261=) n.940T= | |
11 | g.17387310A>C | CA379770775 | KCNJ11 | c.521T>G (p.Ile174Ser) c.782T>G (p.Ile261Ser) n.940T>G | |
11 | g.17387310A>G | CA379770793 | KCNJ11 | c.521T>C (p.Ile174Thr) c.782T>C (p.Ile261Thr) n.940T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387310A>T | CA379770779 | KCNJ11 | c.521T>A (p.Ile174Asn) c.782T>A (p.Ile261Asn) n.940T>A | |
11 | g.17387311T>A | CA379770795 | KCNJ11 | c.520A>T (p.Ile174Phe) c.781A>T (p.Ile261Phe) n.939A>T | |
11 | g.17387311T>C | CA379770797 | KCNJ11 | c.520A>G (p.Ile174Val) c.781A>G (p.Ile261Val) n.939A>G | |
11 | g.17387311T>G | CA379770800 | KCNJ11 | c.520A>C (p.Ile174Leu) c.781A>C (p.Ile261Leu) n.939A>C | |
11 | g.17387312G>A | CA5902248 | KCNJ11 | c.519C>T (p.Val173=) c.780C>T (p.Val260=) n.938C>T | dbSNP ExAC gnomAD v2 |
11 | g.17387312G>C | CA473515423 | KCNJ11 | c.519C>G (p.Val173=) c.780C>G (p.Val260=) n.938C>G | |
11 | g.17387312G= | CA1955119207 | KCNJ11 | c.519C= (p.Val173=) c.780C= (p.Val260=) n.938C= | |
11 | g.17387312G>T | CA473515422 | KCNJ11 | c.519C>A (p.Val173=) c.780C>A (p.Val260=) n.938C>A | |
11 | g.17387313A>C | CA379770807 | KCNJ11 | c.518T>G (p.Val173Gly) c.779T>G (p.Val260Gly) n.937T>G | |
11 | g.17387313A>G | CA379770810 | KCNJ11 | c.518T>C (p.Val173Ala) c.779T>C (p.Val260Ala) n.937T>C | |
11 | g.17387313A>T | CA379770813 | KCNJ11 | c.518T>A (p.Val173Asp) c.779T>A (p.Val260Asp) n.937T>A | |
11 | g.17387314C>A | CA379770815 | KCNJ11 | c.517G>T (p.Val173Phe) c.778G>T (p.Val260Phe) n.936G>T | |
11 | g.17387314C= | CA1955119208 | KCNJ11 | c.517G= (p.Val173=) c.778G= (p.Val260=) n.936G= | |
11 | g.17387314C>G | CA379770818 | KCNJ11 | c.517G>C (p.Val173Leu) c.778G>C (p.Val260Leu) n.936G>C | |
11 | g.17387314C>T | CA218399602 | KCNJ11 | c.517G>A (p.Val173Ile) c.778G>A (p.Val260Ile) n.936G>A | ClinVar dbSNP |
11 | g.17387315A>C | CA379770824 | KCNJ11 | c.516T>G (p.His172Gln) c.777T>G (p.His259Gln) n.935T>G | |
11 | g.17387315A>G | CA473515425 | KCNJ11 | c.516T>C (p.His172=) c.777T>C (p.His259=) n.935T>C | gnomAD v4 |
11 | g.17387315A>T | CA379770825 | KCNJ11 | c.516T>A (p.His172Gln) c.777T>A (p.His259Gln) n.935T>A | |
11 | g.17387316T>A | CA379770834 | KCNJ11 | c.515A>T (p.His172Leu) c.776A>T (p.His259Leu) n.934A>T | |
11 | g.17387316T>C | CA254522 | KCNJ11 | c.515A>G (p.His172Arg) c.776A>G (p.His259Arg) n.934A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387316T>G | CA379770830 | KCNJ11 | c.515A>C (p.His172Pro) c.776A>C (p.His259Pro) n.934A>C | |
11 | g.17387316T= | CA1955119209 | KCNJ11 | c.515A= (p.His172=) c.776A= (p.His259=) n.934A= | |
11 | g.17387317G>A | CA379770836 | KCNJ11 | c.514C>T (p.His172Tyr) c.775C>T (p.His259Tyr) n.933C>T | gnomAD v4 |
11 | g.17387317G>C | CA379770839 | KCNJ11 | c.514C>G (p.His172Asp) c.775C>G (p.His259Asp) n.933C>G | |
11 | g.17387317G>T | CA379770842 | KCNJ11 | c.514C>A (p.His172Asn) c.775C>A (p.His259Asn) n.933C>A | |
11 | g.17387318del | CA2695213387 | KCNJ11 | c.514del (p.His172MetfsTer?) c.775del (p.His259MetfsTer?) n.933del | |
11 | g.17387318G>A | CA473515429 | KCNJ11 | c.513C>T (p.Tyr171=) c.774C>T (p.Tyr258=) n.932C>T | |
11 | g.17387318G>C | CA379770845 | KCNJ11 | c.513C>G (p.Tyr171Ter) c.774C>G (p.Tyr258Ter) n.932C>G | |
11 | g.17387318G= | CA1955119210 | KCNJ11 | c.513C= (p.Tyr171=) c.774C= (p.Tyr258=) n.932C= | |
11 | g.17387318G>T | CA379770847 | KCNJ11 | c.513C>A (p.Tyr171Ter) c.774C>A (p.Tyr258Ter) n.932C>A | ClinVar dbSNP |
11 | g.17387319T>A | CA379770851 | KCNJ11 | c.512A>T (p.Tyr171Phe) c.773A>T (p.Tyr258Phe) n.931A>T | |
11 | g.17387319T>C | CA5902249 | KCNJ11 | c.512A>G (p.Tyr171Cys) c.773A>G (p.Tyr258Cys) n.931A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387319T>G | CA379770855 | KCNJ11 | c.512A>C (p.Tyr171Ser) c.773A>C (p.Tyr258Ser) n.931A>C | |
11 | g.17387319T= | CA1955119211 | KCNJ11 | c.512A= (p.Tyr171=) c.773A= (p.Tyr258=) n.931A= | |
11 | g.17387320A= | CA1955119212 | KCNJ11 | c.511T= (p.Tyr171=) c.772T= (p.Tyr258=) n.930T= | |
11 | g.17387320A>C | CA379770859 | KCNJ11 | c.511T>G (p.Tyr171Asp) c.772T>G (p.Tyr258Asp) n.930T>G | |
11 | g.17387320A>G | CA5902250 | KCNJ11 | c.511T>C (p.Tyr171His) c.772T>C (p.Tyr258His) n.930T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387320A>T | CA379770868 | KCNJ11 | c.511T>A (p.Tyr171Asn) c.772T>A (p.Tyr258Asn) n.930T>A | |
11 | g.17387320dup | CA912971887 | KCNJ11 | c.511dup (p.Tyr171LeufsTer5) c.772dup (p.Tyr258LeufsTer5) n.930dup | |
11 | g.17387321G>A | CA473515431 | KCNJ11 | c.510C>T (p.Ile170=) c.771C>T (p.Ile257=) n.929C>T | |
11 | g.17387321G>C | CA379770871 | KCNJ11 | c.510C>G (p.Ile170Met) c.771C>G (p.Ile257Met) n.929C>G | gnomAD v4 |
11 | g.17387321G>T | CA473515434 | KCNJ11 | c.510C>A (p.Ile170=) c.771C>A (p.Ile257=) n.929C>A | |
11 | g.17387321_17387327dup | CA658822453 | KCNJ11 | c.504_510dup (p.Tyr171AspfsTer7) c.765_771dup (p.Tyr258AspfsTer7) n.923_929dup | ClinVar dbSNP |
11 | g.17387322A>C | CA379770877 | KCNJ11 | c.509T>G (p.Ile170Ser) c.770T>G (p.Ile257Ser) n.928T>G | |
11 | g.17387322A>G | CA379770882 | KCNJ11 | c.509T>C (p.Ile170Thr) c.770T>C (p.Ile257Thr) n.928T>C | |
11 | g.17387322A>T | CA379770881 | KCNJ11 | c.509T>A (p.Ile170Asn) c.770T>A (p.Ile257Asn) n.928T>A | |
11 | g.17387323T>A | CA379770887 | KCNJ11 | c.508A>T (p.Ile170Phe) c.769A>T (p.Ile257Phe) n.927A>T | |
11 | g.17387323T>C | CA379770893 | KCNJ11 | c.508A>G (p.Ile170Val) c.769A>G (p.Ile257Val) n.927A>G | gnomAD v4 |
11 | g.17387323T>G | CA379770889 | KCNJ11 | c.508A>C (p.Ile170Leu) c.769A>C (p.Ile257Leu) n.927A>C | |
11 | g.17387324G>A | CA473515435 | KCNJ11 | c.507C>T (p.Ile169=) c.768C>T (p.Ile256=) n.926C>T | dbSNP |
11 | g.17387324G>C | CA379770896 | KCNJ11 | c.507C>G (p.Ile169Met) c.768C>G (p.Ile256Met) n.926C>G | |
11 | g.17387324G= | CA1955119213 | KCNJ11 | c.507C= (p.Ile169=) c.768C= (p.Ile256=) n.926C= | |
11 | g.17387324G>T | CA473515438 | KCNJ11 | c.507C>A (p.Ile169=) c.768C>A (p.Ile256=) n.926C>A | |
11 | g.17387325A>C | CA379770900 | KCNJ11 | c.506T>G (p.Ile169Ser) c.767T>G (p.Ile256Ser) n.925T>G | |
11 | g.17387325A>G | CA379770902 | KCNJ11 | c.506T>C (p.Ile169Thr) c.767T>C (p.Ile256Thr) n.925T>C | |
11 | g.17387325A>T | CA379770904 | KCNJ11 | c.506T>A (p.Ile169Asn) c.767T>A (p.Ile256Asn) n.925T>A | |
11 | g.17387326T>A | CA379770909 | KCNJ11 | c.505A>T (p.Ile169Phe) c.766A>T (p.Ile256Phe) n.924A>T | |
11 | g.17387326T>C | CA379770911 | KCNJ11 | c.505A>G (p.Ile169Val) c.766A>G (p.Ile256Val) n.924A>G | |
11 | g.17387326T>G | CA379770914 | KCNJ11 | c.505A>C (p.Ile169Leu) c.766A>C (p.Ile256Leu) n.924A>C | |
11 | g.17387327C>A | CA473515440 | KCNJ11 | c.504G>T (p.Leu168=) c.765G>T (p.Leu255=) n.923G>T | dbSNP |
11 | g.17387327C= | CA1955119214 | KCNJ11 | c.504G= (p.Leu168=) c.765G= (p.Leu255=) n.923G= | |
11 | g.17387327C>G | CA473515441 | KCNJ11 | c.504G>C (p.Leu168=) c.765G>C (p.Leu255=) n.923G>C | |
11 | g.17387327C>T | CA473515442 | KCNJ11 | c.504G>A (p.Leu168=) c.765G>A (p.Leu255=) n.923G>A | dbSNP gnomAD v2 |
11 | g.17387328A>C | CA379770917 | KCNJ11 | c.503T>G (p.Leu168Arg) c.764T>G (p.Leu255Arg) n.922T>G | |
11 | g.17387328A>G | CA379770920 | KCNJ11 | c.503T>C (p.Leu168Pro) c.764T>C (p.Leu255Pro) n.922T>C | |
11 | g.17387328A>T | CA379770923 | KCNJ11 | c.503T>A (p.Leu168Gln) c.764T>A (p.Leu255Gln) n.922T>A | |
11 | g.17387329G>A | CA473515443 | KCNJ11 | c.502C>T (p.Leu168=) c.763C>T (p.Leu255=) n.921C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387329G>C | CA379770924 | KCNJ11 | c.502C>G (p.Leu168Val) c.763C>G (p.Leu255Val) n.921C>G | |
11 | g.17387329G= | CA1955119215 | KCNJ11 | c.502C= (p.Leu168=) c.763C= (p.Leu255=) n.921C= | |
11 | g.17387329G>T | CA379770927 | KCNJ11 | c.502C>A (p.Leu168Met) c.763C>A (p.Leu255Met) n.921C>A | |
11 | g.17387330C>A | CA473515444 | KCNJ11 | c.501G>T (p.Pro167=) c.762G>T (p.Pro254=) n.920G>T | |
11 | g.17387330C= | CA1955119216 | KCNJ11 | c.501G= (p.Pro167=) c.762G= (p.Pro254=) n.920G= | |
11 | g.17387330C>G | CA473515445 | KCNJ11 | c.501G>C (p.Pro167=) c.762G>C (p.Pro254=) n.920G>C | |
11 | g.17387330C>T | CA5902251 | KCNJ11 | c.501G>A (p.Pro167=) c.762G>A (p.Pro254=) n.920G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17387331G>A | CA254520 | KCNJ11 | c.500C>T (p.Pro167Leu) c.761C>T (p.Pro254Leu) n.919C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387331G>C | CA379770937 | KCNJ11 | c.500C>G (p.Pro167Arg) c.761C>G (p.Pro254Arg) n.919C>G | |
11 | g.17387331G= | CA1955119217 | KCNJ11 | c.500C= (p.Pro167=) c.761C= (p.Pro254=) n.919C= | |
11 | g.17387331G>T | CA379770938 | KCNJ11 | c.500C>A (p.Pro167Gln) c.761C>A (p.Pro254Gln) n.919C>A | |
11 | g.17387332G>A | CA379770942 | KCNJ11 | c.499C>T (p.Pro167Ser) c.760C>T (p.Pro254Ser) n.918C>T | gnomAD v4 |
11 | g.17387332G>C | CA379770944 | KCNJ11 | c.499C>G (p.Pro167Ala) c.760C>G (p.Pro254Ala) n.918C>G | |
11 | g.17387332G>T | CA379770946 | KCNJ11 | c.499C>A (p.Pro167Thr) c.760C>A (p.Pro254Thr) n.918C>A | |
11 | g.17387333G>A | CA5902252 | KCNJ11 | c.498C>T (p.Ala166=) c.759C>T (p.Ala253=) n.917C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387333G>C | CA5902253 | KCNJ11 | c.498C>G (p.Ala166=) c.759C>G (p.Ala253=) n.917C>G | dbSNP ExAC gnomAD v2 |
11 | g.17387333G= | CA1955119218 | KCNJ11 | c.498C= (p.Ala166=) c.759C= (p.Ala253=) n.917C= | |
11 | g.17387333G>T | CA473515449 | KCNJ11 | c.498C>A (p.Ala166=) c.759C>A (p.Ala253=) n.917C>A | |
11 | g.17387334G>A | CA379770953 | KCNJ11 | c.497C>T (p.Ala166Val) c.758C>T (p.Ala253Val) n.916C>T | dbSNP gnomAD v4 |
11 | g.17387334G>C | CA379770955 | KCNJ11 | c.497C>G (p.Ala166Gly) c.758C>G (p.Ala253Gly) n.916C>G | |
11 | g.17387334G= | CA1955119219 | KCNJ11 | c.497C= (p.Ala166=) c.758C= (p.Ala253=) n.916C= | |
11 | g.17387334G>T | CA379770969 | KCNJ11 | c.497C>A (p.Ala166Asp) c.758C>A (p.Ala253Asp) n.916C>A | gnomAD v4 |
11 | g.17387335C>A | CA379770976 | KCNJ11 | c.496G>T (p.Ala166Ser) c.757G>T (p.Ala253Ser) n.915G>T | gnomAD v4 |
11 | g.17387335C>G | CA379770979 | KCNJ11 | c.496G>C (p.Ala166Pro) c.757G>C (p.Ala253Pro) n.915G>C | |
11 | g.17387335C>T | CA379770974 | KCNJ11 | c.496G>A (p.Ala166Thr) c.757G>A (p.Ala253Thr) n.915G>A | gnomAD v4 |
11 | g.17387336C>A | CA473515454 | KCNJ11 | c.495G>T (p.Val165=) c.756G>T (p.Val252=) n.914G>T | |
11 | g.17387336C>G | CA473515455 | KCNJ11 | c.495G>C (p.Val165=) c.756G>C (p.Val252=) n.914G>C | |
11 | g.17387336C>T | CA473515456 | KCNJ11 | c.495G>A (p.Val165=) c.756G>A (p.Val252=) n.914G>A | |
11 | g.17387337del | CA2612638705 | KCNJ11 | c.494del (p.Val165GlyfsTer4) c.755del (p.Val252GlyfsTer4) n.913del | gnomAD v4 |
11 | g.17387337A= | CA1955119220 | KCNJ11 | c.494T= (p.Val165=) c.755T= (p.Val252=) n.913T= | |
11 | g.17387337A>C | CA379770983 | KCNJ11 | c.494T>G (p.Val165Gly) c.755T>G (p.Val252Gly) n.913T>G | |
11 | g.17387337A>G | CA341726 | KCNJ11 | c.494T>C (p.Val165Ala) c.755T>C (p.Val252Ala) n.913T>C | ClinVar dbSNP |
11 | g.17387337A>T | CA379770987 | KCNJ11 | c.494T>A (p.Val165Glu) c.755T>A (p.Val252Glu) n.913T>A | |
11 | g.17387338C>A | CA379770990 | KCNJ11 | c.493G>T (p.Val165Leu) c.754G>T (p.Val252Leu) n.912G>T | ClinVar dbSNP |
11 | g.17387338C>G | CA379770993 | KCNJ11 | c.493G>C (p.Val165Leu) c.754G>C (p.Val252Leu) n.912G>C | |
11 | g.17387338C>T | CA379770996 | KCNJ11 | c.493G>A (p.Val165Met) c.754G>A (p.Val252Met) n.912G>A | |
11 | g.17387339C>A | CA473515458 | KCNJ11 | c.492G>T (p.Leu164=) c.753G>T (p.Leu251=) n.911G>T | |
11 | g.17387339C= | CA1955119221 | KCNJ11 | c.492G= (p.Leu164=) c.753G= (p.Leu251=) n.911G= | |
11 | g.17387339C>G | CA5902254 | KCNJ11 | c.492G>C (p.Leu164=) c.753G>C (p.Leu251=) n.911G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387339C>T | CA473515459 | KCNJ11 | c.492G>A (p.Leu164=) c.753G>A (p.Leu251=) n.911G>A | |
11 | g.17387340A>C | CA379771004 | KCNJ11 | c.491T>G (p.Leu164Arg) c.752T>G (p.Leu251Arg) n.910T>G | |
11 | g.17387340A>G | CA379771008 | KCNJ11 | c.491T>C (p.Leu164Pro) c.752T>C (p.Leu251Pro) n.910T>C | |
11 | g.17387340A>T | CA379771005 | KCNJ11 | c.491T>A (p.Leu164Gln) c.752T>A (p.Leu251Gln) n.910T>A |