Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70177197_70177205delinsCTCACCGAG | CA2272997250 | KCNJ2 | c.*874_*882delinsCTCACCGAG (n.*874_*882delinsCTCACCGAG) | |
17 | g.70177200_70177207del | CA2272997251 | KCNJ2 | c.*877_*884del (n.*877_*884del) | dbSNP |
17 | g.70177199C>A | CA2639594415 | KCNJ2 | c.*876C>A (n.*876C>A) | gnomAD v4 |
17 | g.70177199C= | CA2272997252 | KCNJ2 | c.*876C= (n.*876C=) | |
17 | g.70177199C>T | CA774607412 | KCNJ2 | c.*876C>T (n.*876C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177200A>G | CA2639594416 | KCNJ2 | c.*877A>G (n.*877A>G) | gnomAD v4 |
17 | g.70177202C= | CA2272997253 | KCNJ2 | c.*879C= (n.*879C=) | |
17 | g.70177202C>T | CA293703021 | KCNJ2 | c.*879C>T (n.*879C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70177203G>A | CA293703022 | KCNJ2 | c.*880G>A (n.*880G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70177203G= | CA2272997254 | KCNJ2 | c.*880G= (n.*880G=) | |
17 | g.70177203G>T | CA2810293702 | KCNJ2 | c.*880G>T (n.*880G>T) | |
17 | g.70177204A= | CA2272997255 | KCNJ2 | c.*881A= (n.*881A=) | |
17 | g.70177204A>G | CA2639594417 | KCNJ2 | c.*881A>G (n.*881A>G) | gnomAD v4 |
17 | g.70177204A>T | CA293703023 | KCNJ2 | c.*881A>T (n.*881A>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177205G>A | CA985918777 | KCNJ2 | c.*882G>A (n.*882G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177205G= | CA2272997256 | KCNJ2 | c.*882G= (n.*882G=) | |
17 | g.70177207C>T | CA2639594418 | KCNJ2 | c.*884C>T (n.*884C>T) | gnomAD v4 |
17 | g.70177208T>C | CA293703024 | KCNJ2 | c.*885T>C (n.*885T>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177208T= | CA2272997257 | KCNJ2 | c.*885T= (n.*885T=) | |
17 | g.70177209A= | CA2272997258 | KCNJ2 | c.*886A= (n.*886A=) | |
17 | g.70177209_70177210insTTTTCAGT | CA2272997259 | KCNJ2 | c.*886_*887insTTTTCAGT (n.*886_*887insTTTTCAGT) | dbSNP |
17 | g.70177210G>T | CA2639594419 | KCNJ2 | c.*887G>T (n.*887G>T) | gnomAD v4 |
17 | g.70177211_70177212delinsTC | CA2272997260 | KCNJ2 | c.*888_*889delinsTC (n.*888_*889delinsTC) | |
17 | g.70177212del | CA2272997261 | KCNJ2 | c.*889del (n.*889del) | dbSNP |
17 | g.70177212C>A | CA2639594420 | KCNJ2 | c.*889C>A (n.*889C>A) | gnomAD v4 |
17 | g.70177215T>C | CA2272997263 | KCNJ2 | c.*892T>C (n.*892T>C) | dbSNP |
17 | g.70177215T= | CA2272997262 | KCNJ2 | c.*892T= (n.*892T=) | |
17 | g.70177216G>A | CA293703025 | KCNJ2 | c.*893G>A (n.*893G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177216G>C | CA2733934196 | KCNJ2 | c.*893G>C (n.*893G>C) | dbSNP |
17 | g.70177216G= | CA2272997264 | KCNJ2 | c.*893G= (n.*893G=) | |
17 | g.70177216G>T | CA2639594421 | KCNJ2 | c.*893G>T (n.*893G>T) | gnomAD v4 |
17 | g.70177217T>A | CA2639594422 | KCNJ2 | c.*894T>A (n.*894T>A) | gnomAD v4 |
17 | g.70177221G>C | CA774607429 | KCNJ2 | c.*898G>C (n.*898G>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177221G= | CA2272997265 | KCNJ2 | c.*898G= (n.*898G=) | |
17 | g.70177222C>T | CA2639594423 | KCNJ2 | c.*899C>T (n.*899C>T) | gnomAD v4 |
17 | g.70177222_70177223delinsCT | CA2272997266 | KCNJ2 | c.*899_*900delinsCT (n.*899_*900delinsCT) | |
17 | g.70177223T>C | CA2639594424 | KCNJ2 | c.*900T>C (n.*900T>C) | gnomAD v4 |
17 | g.70177226del | CA774607436 | KCNJ2 | c.*903del (n.*903del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177226T>C | CA985918784 | KCNJ2 | c.*903T>C (n.*903T>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177226T= | CA2272997267 | KCNJ2 | c.*903T= (n.*903T=) | |
17 | g.70177231A= | CA2272997268 | KCNJ2 | c.*908A= (n.*908A=) | |
17 | g.70177231A>T | CA293703026 | KCNJ2 | c.*908A>T (n.*908A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70177233T>G | CA774607439 | KCNJ2 | c.*910T>G (n.*910T>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177233T= | CA2272997269 | KCNJ2 | c.*910T= (n.*910T=) | |
17 | g.70177235T>C | CA2639594425 | KCNJ2 | c.*912T>C (n.*912T>C) | gnomAD v4 |
17 | g.70177236G>A | CA774607450 | KCNJ2 | c.*913G>A (n.*913G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177236G= | CA2272997270 | KCNJ2 | c.*913G= (n.*913G=) | |
17 | g.70177238C>A | CA2639594426 | KCNJ2 | c.*915C>A (n.*915C>A) | gnomAD v4 |
17 | g.70177239C>G | CA2639594427 | KCNJ2 | c.*916C>G (n.*916C>G) | gnomAD v4 |
17 | g.70177240T>C | CA2272997272 | KCNJ2 | c.*917T>C (n.*917T>C) | dbSNP gnomAD v4 |